Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	Maybe_Pathogenic	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score	SIFT_converted_rankscore	SIFT_pred	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred	LRT_score	LRT_converted_rankscore	LRT_pred	LRT_Omega	MutationTaster_score	MutationTaster_converted_rankscore	MutationTaster_pred	MutationAssessor_score	MutationAssessor_rankscore	MutationAssessor_pred	FATHMM_score	FATHMM_converted_rankscore	FATHMM_pred	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw	CADD_raw_rankscore	CADD_phred	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS	GERP++_RS_rankscore	phyloP100way_vertebrate	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	GME_AF	GME_NWA	GME_NEA	GME_AP	GME_Israel	GME_SD	GME_TP	GME_CA	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES984	WT	HH	HZ	NC
chr1	930204	930204	G	A	exonic	SAMD11	.	nonsynonymous SNV	SAMD11:NM_001385640:exon3:c.G659A:p.R220Q,SAMD11:NM_001385641:exon3:c.G659A:p.R220Q,SAMD11:NM_152486:exon3:c.G122A:p.R41Q	.	391	1129	2	0	0	2	0.000884956	.	.	.	1153702	not_provided|SAMD11-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.208	.	0.0108	0.0109824	0.0059	0.0453	0.0045	0	0	0.0005	0	0.0002	0.0020957	324	154602	rs148711625	0.0009	0.0009	0.0011	0.0008	0.0334	0.0009	0.0009	0.0317	0.0311	0.0334	0.0021	0	2.666e-05	0	0.0014	4.308e-05	0.0019	8.633e-05	0.0085	0.0085	0.0085	0.0085	0.0294	0.0081	0.0080	0.0281	0.0275	0.0294	0	0.0037	0	0	0	0.0034	8.82e-05	0.0052	0	0.017	0.72154	D	0.099	0.57104	T	1.0	0.90584	D	0.886	0.62898	P	0.000048	0.53742	D	0.000000	0.999822	0.49512	D	2.25	0.63811	M	.	.	.	-2.83	0.59710	D	0.26	0.44761	-0.7940	0.55496	T	0.058	0.24167	T	9	0.003879249	0.00073	T	.	.	.	0.208	0.49714	.	.	0.349647731962	0.34572	0.3724016433471182	0.37154	0.00802304616737	0.00722	0.393659859896	0.24184	T	0.059902	0.36206	T	-0.340465	0.05356	T	-0.238834	0.50911	T	0.0250921310217131	0.01285	T	0.791921	0.44873	T	0.27602103	0.50664	0.29151028	0.55176	0.27602103	0.50664	0.29151028	0.55175	-5.529	0.42139	T	.	.	0.088	0.36254	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.912965	0.38644	20.8	0.98824809938331715	0.46852	0.91968	0.54654	D	AEFBI	0.399575	0.47480	N	0.159841103611831	0.49277	3.130056	0.0633569309348948	0.42721	2.589041	0.999999729198067	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.562822	0.20929	0	.	.	4.66	4.66	0.57857	3.430000	0.52575	.	.	0.652000	0.53365	1.000000	0.71638	0.001000	0.17328	0.025000	0.12405	0.0:0.0:1.0:0.0	16.912	0.86010	940	0.13648	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005112	0.000000	0.008197	0.002976	0.000000	0.008621	0.006211	0.003817	0.07143	394.44	34	chr1	930204	.	G	A	394.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.124;DP=219;ExcessHet=0;FS=1.236;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=-2.491;SOR=0.758	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1175	6	0	1	0
chr1	942945	942945	C	T	exonic	SAMD11	.	nonsynonymous SNV	SAMD11:NM_001385640:exon11:c.C1943T:p.P648L,SAMD11:NM_001385641:exon11:c.C1940T:p.P647L,SAMD11:NM_152486:exon11:c.C1451T:p.P484L	.	414	1105	3	0	0	3	0.00135563	.	.	.	1153732	not_provided|SAMD11-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.045	.	0.0083	0.0109824	0.0062	0.0698	0.0054	0	0	0.0002	0	0.0004	0.0018046	279	154602	rs114478480	0.0009	0.0009	0.0010	0.0008	0.0333	0.0009	0.0009	0.0316	0.0310	0.0333	0.0022	0	0	0	0.0012	2.501e-05	0.0019	6.332e-05	0.0085	0.0086	0.0084	0.0086	0.0296	0.0082	0.0080	0.0282	0.0276	0.0296	0	0.0035	0	0	0	0.0034	8.831e-05	0.0057	0	0.007	0.59928	D	0.06	0.45744	T	0.001	0.07471	B	0.001	0.04355	B	0.000325	0.45700	D	0.150730	0.999998	0.08975	N	0.345	0.11182	N	.	.	.	-3.48	0.67941	D	0.085	0.12198	-1.0391	0.17587	T	0.008	0.02801	T	9	0.0030383766	0.00050	T	.	.	.	0.089	0.25827	.	.	0.177238962908	0.17366	0.20706782920270694	0.20622	0.00714376160923	0.00627	0.675765156746	0.63662	T	0.047531	0.36790	T	-0.600932	0.00144	T	-0.612289	0.11800	T	0.0263448655032246	0.01452	T	0.747125	0.36767	T	0.09336694	0.21927	0.11394595	0.27503	0.09336694	0.21927	0.11394595	0.27502	-4.383	0.29326	T	.	.	0.073	0.09723	B	.;.;.;.;.;.	.;.;.;.;.;.	0.757324	0.11270	7.897	0.60977837046637418	0.06595	0.05200	0.11024	N	AEFDGBCI	0.133863	0.25367	N	-0.885954403701618	0.11176	0.5379339	-1.03498590992202	0.09021	0.4466185	0.999999095782753	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.608004	0.38603	0	0.620976	0.48614	0	.	.	4.37	-2.71	0.05633	-0.755000	0.04887	.	.	-0.342000	0.05666	0.000000	0.06391	0.002000	0.18203	0.013000	0.09966	0.1407:0.3922:0.2762:0.1908	1.825	0.02930	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.004107	0.000000	0.005464	0.003012	0.000000	0.018182	0.003145	0.000000	0.07143	538.63	35	chr1	942945	.	C	T	538.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.388;DP=219;ExcessHet=0;FS=4.666;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-0.661;SOR=0.426	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,955	6	0	1	0
chr1	944101	944101	G	T	exonic	SAMD11	.	nonsynonymous SNV	SAMD11:NM_001385640:exon14:c.G2486T:p.G829V,SAMD11:NM_001385641:exon14:c.G2483T:p.G828V,SAMD11:NM_152486:exon14:c.G1994T:p.G665V	.	.	.	.	.	.	.	.	.	.	.	824546	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.294	0.114630951344	.	.	.	.	.	.	.	.	.	.	.	.	.	rs113383096	1.098e-05	1.094e-05	1.092e-05	1.104e-05	0.0002	6.5e-06	5.26e-06	8.12e-06	6.43e-06	0	0	0	0	0	0.0002	1.352e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	0.993	0.65571	D	0.738	0.55619	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.255	0.64187	M	.	.	.	-4.52	0.78302	D	0.628	0.72299	-0.5465	0.66919	T	0.274	0.64525	T	9	0.63167953	0.68552	D	0.114631	0.79355	D	0.294	0.61388	0.321	0.30064	0.502379540653	0.49875	0.5567467974701948	0.55601	0.0379485493856	0.04033	0.55874812603	0.47091	T	0.131626	0.50909	T	0.156336	0.69860	D	-0.0132104	0.69475	D	0.989577651023865	0.79803	D	0.919408	0.70943	D	0.5913204	0.72223	0.41016474	0.65284	0.5913204	0.72224	0.41016474	0.65285	-7.298	0.56181	T	.	.	0.262	0.54696	B	.;.;.;.;.;.	.;.;.;.;.;.	3.590423	0.50659	23.0	0.99014690007378392	0.50441	0.87256	0.46740	D	AEFDBCI	0.499290	0.53304	N	0.0821086849339968	0.45629	2.816246	0.037923345461408	0.41492	2.49365	0.999999982437542	0.74766	0.498214	0.20090	0	0.572659	0.20510	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.05	4.13	0.47661	2.811000	0.47685	.	.	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.278000	0.23967	0.0779:0.1358:0.7863:0.0	10.196	0.42232	934	0.15400	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	714.27	34	chr1	944101	.	G	T	714.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.89;DP=243;ExcessHet=0;FS=1.989;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=0.048;SOR=0.587	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	5	0	1	1
chr1	951153	951153	T	C	exonic	NOC2L	.	nonsynonymous SNV	NOC2L:NM_015658:exon12:c.A1417G:p.I473V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.014283643875	.	.	0.0002	0.0003	0.0005	0	0	0	0	0.0007	6.47e-05	10	154602	rs749112228	4.518e-05	4.652e-05	2.206e-05	6.871e-05	0.0008	3.633e-05	3.31e-05	0.0006	0.0006	0	2.383e-05	0	0	0	0	0	1.682e-05	0.0008	3.942e-05	3.937e-05	0	8.063e-05	0.0012	1.715e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.462	0.08685	T	0.27	0.22359	T	0.178	0.28960	B	0.078	0.28627	B	0.000471	0.44119	D	0.155671	0.997646	0.44063	D	1.89	0.50145	L	0.3	0.58755	T	-0.67	0.19297	N	0.171	0.18239	-1.0593	0.11931	T	0.129	0.43767	T	10	0.21554106	0.38109	T	0.014284	0.34290	T	0.067	0.19503	0.793	0.91438	0.409937222855	0.40610	0.39722226667206123	0.39637	.	.	0.453954160213	0.32485	T	0.080303	0.36332	T	-0.372072	0.03491	T	-0.43384	0.29499	T	0.0226354392429315	0.00980	T	0.79622	0.43953	T	0.022937384	0.00993	0.038632374	0.03776	0.022937384	0.00993	0.038632374	0.03776	-5.199	0.38931	T	.	.	0.120	0.24934	B	.	.	1.561344	0.19999	14.54	0.77518940445423035	0.11910	0.85979	0.45178	D	AEFBCI	0.170903	0.29784	N	-0.481178079148138	0.22698	1.213828	-0.432157635811197	0.24059	1.315418	0.234813262985706	0.18506	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.91	1.45	0.21708	2.212000	0.42474	.	.	-0.120000	0.14102	1.000000	0.71638	0.985000	0.30750	0.169000	0.20946	0.0:0.1796:0.0:0.8204	7.876	0.28755	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	631.63	42	chr1	951153	.	T	C	631.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.264;DP=256;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=-0.606;SOR=0.638	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,988	6	0	1	0
chr1	964368	964368	T	A	exonic	KLHL17	.	nonsynonymous SNV	KLHL17:NM_198317:exon11:c.T1538A:p.V513E	.	427	1094	1	0	0	1	0.00045683	.	.	.	3976737	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.778	0.369458579851	8e-05	.	5.706e-05	0	0	0	0	0.0001	0	0	1.29e-05	2	154602	rs372591096	9.26e-06	9.577e-06	7.04e-06	1.153e-05	0.0007	5.17e-06	3.98e-06	0.0003	0.0002	0	0	0	0	0	0.0007	8.305e-06	0	0	1.974e-05	1.97e-05	1.286e-05	2.696e-05	4.415e-05	5.25e-06	2.46e-06	1.172e-05	6.25e-06	0	0	0	0	0	0	0	4.415e-05	0	0	0.0	0.91255	D	0.003	0.76473	D	0.948	0.53620	P	0.697	0.54061	P	0.006616	0.31916	N	0.338999	0.999995	0.58761	D	1.54	0.38927	L	-1.28	0.79376	T	-5.32	0.84525	D	0.697	0.70175	0.331	0.88048	D	0.593	0.85443	D	10	0.8952285	0.88875	D	0.369459	0.92710	D	0.778	0.92583	.	.	0.955750653757	0.95527	0.6102936196621508	0.60961	.	.	0.70863366127	0.68396	T	0.629064	0.88480	D	0.035459	0.56447	T	-0.0862121	0.64446	T	0.940078496932983	0.61209	D	0.668433	0.27736	T	0.89938223	0.91328	0.8895149	0.94232	0.89938223	0.91329	0.8895149	0.94233	-10.585	0.77334	D	0.5814695986804941	0.64831	0.729	0.74169	P	.	.	4.485193	0.70018	25.5	0.98671480554765323	0.44484	0.99722	0.98964	D	AEFBI	0.880597	0.80735	D	0.527773121858574	0.68737	5.258732	0.457996018804856	0.65231	4.797851	0.999999932994574	0.74766	0.732398	0.92422	0	0.643519	0.57511	0	0.570548	0.19454	0	0.727631	0.95156	0	.	.	4.83	4.83	0.61880	4.994000	0.63640	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.593000	0.31214	0.0:0.0:0.0:1.0	14.694	0.68719	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001038	0.000000	0.001397	0.002994	0.000000	0.000000	0.000000	0.000000	0.07143	896.44	37	chr1	964368	.	T	A	896.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.172;DP=269;ExcessHet=0;FS=3.087;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-1.195;SOR=1.168	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr1	970894	970894	C	T	exonic	PLEKHN1	.	nonsynonymous SNV	PLEKHN1:NM_001160184:exon6:c.C500T:p.P167L,PLEKHN1:NM_001367552:exon6:c.C500T:p.P167L,PLEKHN1:NM_032129:exon6:c.C500T:p.P167L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.142107906474	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1199820849	1.508e-05	1.505e-05	1.501e-05	1.515e-05	1.979e-05	9.87e-06	8.43e-06	1.295e-05	1.106e-05	0	0	0	0	0	0	1.979e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.72154	D	0.004	0.74150	D	0.998	0.73220	D	0.974	0.73157	D	0.000457	0.44317	D	0.151332	0.636829	0.32840	D	2.39	0.68882	M	1.01	0.57729	T	-6.12	0.90060	D	0.6	0.65758	-0.2799	0.75543	T	0.296	0.66773	T	10	0.5313421	0.63201	D	0.142108	0.82450	D	0.217	0.51112	0.5	0.59147	0.827656281967	0.82602	0.35963055123825977	0.35877	0.0583781422182	0.06466	0.583729088306	0.50611	T	.	.	.	0.000696309	0.51749	T	-0.216505	0.53073	T	0.956456243991852	0.64761	D	0.90401	0.68205	D	0.2506851	0.48072	0.27209303	0.53116	0.2506851	0.48072	0.27209303	0.53115	-12.89	0.88904	D	.	.	0.526	0.73198	A	.;.;.	.;.;.	4.513702	0.70713	25.6	0.99866499176576928	0.94457	0.15329	0.18858	N	AEFBI	0.121747	0.23656	N	0.22548525307837	0.52437	3.417851	0.112528311988089	0.45187	2.786464	0.998412967099199	0.36924	0.652421	0.48094	0	0.588066	0.40923	0	0.64067	0.45733	0	0.616125	0.45549	0	.	.	4.74	4.74	0.59717	3.346000	0.51907	.	.	0.589000	0.31548	0.312000	0.25432	1.000000	0.68203	0.355000	0.25773	0.0:1.0:0.0:0.0	14.567	0.67777	906	0.23090	Pleckstrin homology domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	434.53	34	chr1	970894	.	C	T	434.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.207;DP=201;ExcessHet=0;FS=1.226;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=1.59;SOR=0.489	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1098	6	0	1	0
chr1	980234	980234	T	A	exonic	PERM1	.	nonsynonymous SNV	PERM1:NM_001369898:exon1:c.A796T:p.T266S,PERM1:NM_001291366:exon2:c.A796T:p.T266S,PERM1:NM_001369897:exon2:c.A796T:p.T266S,PERM1:NM_001291367:exon3:c.A454T:p.T152S	.	423	1090	9	0	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00579008305942	.	0.00179712	0.0008	0	0	0	0	0.0015	0	0.0007	0.0004398	68	154602	rs186435690	0.0019	0.0018	0.0019	0.0019	0.0032	0.0018	0.0018	0.0022	0.0021	0.0005	0.0008	7.942e-05	0	8.337e-05	0.0032	0.0023	0.0022	0.0003	0.0016	0.0016	0.0017	0.0015	0.0027	0.0014	0.0014	0.0024	0.0023	0.0006	0.0066	0.0014	0	0	0.0002	0.0034	0.0027	0.0019	0.0008	0.279	0.15561	T	0.659	0.08839	T	.	.	.	.	.	.	0.551365	0.05372	N	1.263340	1	0.08975	N	.	.	.	.	.	.	-1.06	0.27669	N	0.05	0.02179	-1.0642	0.10736	T	0.053	0.22655	T	9	0.004563421	0.00095	T	0.00579	0.15042	T	0.015	0.02232	.	.	0.0297737177859	0.01360	0.051393872434996796	0.05081	.	.	.	.	.	0.028445	0.20604	T	-0.636245	0.00088	T	-0.689119	0.06440	T	0.00182761711972238	0.00019	T	0.342666	0.10263	T	0.028213155	0.02124	0.03697222	0.03251	0.028213155	0.02124	0.03697222	0.03250	-3.26	0.13227	T	.	.	0.142	0.31228	B	.;.	.;.	-0.556608	0.01695	0.123	0.6366384684374824	0.07284	0.05448	0.11325	N	AEFDGBCI	0.108101	0.21516	N	-1.33006194469544	0.03336	0.1488563	-1.4808714068551	0.02501	0.1151442	0.999919450837561	0.45857	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.79	-7.54	0.01189	-2.041000	0.01503	.	.	-0.229000	0.07765	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1119:0.179:0.2216:0.4876	2.197	0.03674	855	0.34697	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2466.53	40	chr1	980234	.	T	A	2466.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.43;DP=413;ExcessHet=0;FS=2.658;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=0.097;SOR=0.906	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	6	0	1	0
chr1	1041648	1041648	G	T	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon6:c.G1123T:p.A375S	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	0	1494	27	1	0	29	0.0096122	.	.	.	249308	Congenital_myasthenic_syndrome_8|not_specified|not_provided	MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.268	.	0.0050	0.00239617	0.0049	0.0012	0.0041	0	0.0040	0.0071	0.0025	0.0019	0.0045407	702	154602	rs138031468	0.0067	0.0067	0.0068	0.0067	0.0106	0.0066	0.0066	0.0085	0.0077	0.0015	0.0041	0.0129	2.522e-05	0.0031	0.0106	0.0075	0.0071	0.0025	0.0052	0.0052	0.0057	0.0046	0.0069	0.0049	0.0048	0.0064	0.0062	0.0015	0.0802	0.0062	0.0089	0	0.0023	0.0238	0.0069	0.0076	0.0019	0.022	0.48642	D	0.418	0.14241	T	.	.	.	.	.	.	0.034188	0.24801	N	0.330580	1	0.08975	N	1.58	0.39772	L	-0.89	0.74793	T	-1.15	0.29525	N	0.455	0.49965	-0.5829	0.65502	T	0.324	0.69298	T	10	0.0054303408	0.00120	T	.	.	.	0.268	0.58254	.	.	0.710180199758	0.70765	0.22814125765294255	0.22729	0.942051258392	0.72247	0.591584920883	0.51718	T	.	.	.	-0.408268	0.02041	T	-0.355499	0.38573	T	0.0232572930509463	0.01053	T	0.888711	0.62748	D	.	.	.	.	.	.	.	.	-5.076	0.37653	T	.	.	0.119	0.30739	B	.;.	.;.	2.839796	0.37459	20.5	0.98786712603817572	0.46222	0.22406	0.21735	N	AEFBI	0.131215	0.25007	N	-0.062004523584795	0.39068	2.298016	-0.207548251615355	0.31264	1.767697	0.988163787873818	0.31434	0.72623	0.87236	0	0.724815	0.89359	0	0.594344	0.31042	0	0.562822	0.20929	0	.	.	4.66	4.66	0.57857	1.487000	0.35149	9.713000	0.81340	0.648000	0.52827	0.021000	0.19753	1.000000	0.68203	0.018000	0.11154	0.0:0.0:0.8362:0.1638	12.783	0.56866	940	0.13648	.;Kazal domain|Kazal domain|Kazal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011100	0.000000	0.016304	0.017544	0.000000	0.000000	0.012195	0.007576	0.07143	1176.49	119	chr1	1041648	.	G	T	1176.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.214;DP=310;ExcessHet=0;FS=2.39;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-1.828;SOR=0.47	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1093	6	0	1	0
chr1	1045172	1045172	G	A	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon13:c.G2266A:p.A756T	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	2	1501	19	0	0	19	0.00628931	.	.	.	249318	not_provided|Congenital_myasthenic_syndrome_8|not_specified	MedGen:C3661900|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.123	0.0970151777479	0.0005	0.000599042	0.0013	0.0001	8.784e-05	0.0046	0.0042	0.0012	0.0012	0.0007	0.0011255	174	154602	rs140764403	0.0009	0.0009	0.0009	0.0010	0.0131	0.0009	0.0009	0.0107	0.0098	0.0001	0.0004	0.0025	0.0078	0.0037	0.0131	0.0005	0.0014	0.0009	0.0009	0.0009	0.0007	0.0011	0.0054	0.0008	0.0007	0.0038	0.0033	0.0001	0	0.0004	0.0014	0.0054	0.0027	0.0034	0.0007	0.0024	0.0019	0.527	0.07093	T	0.513	0.10714	T	.	.	.	.	.	.	0.097503	0.20024	N	0.407810	0.99948	0.21117	N	1.155	0.29575	L	-0.96	0.75553	T	-0.45	0.14782	N	0.189	0.20660	-0.9896	0.32702	T	0.159	0.49329	T	10	0.012999803	0.00277	T	0.097015	0.76702	D	0.123	0.34020	.	.	0.730723476741	0.72833	0.07224684039450929	0.07161	0.11738018142	0.13225	0.478209018707	0.35809	T	.	.	.	-0.459926	0.00984	T	-0.432613	0.29638	T	0.000873139681683351	0.00008	T	0.588541	0.21576	T	.	.	.	.	.	.	.	.	-3.395	0.14990	T	.	.	0.077	0.06387	B	.;.	.;.	1.179532	0.15696	12.04	0.86146716162700376	0.16343	0.24624	0.22451	N	AEFBI	0.115884	0.22766	N	-0.88422585267322	0.11217	0.5401324	-0.938262077458966	0.11196	0.568915	0.249722612897697	0.18667	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.5	2.48	0.29194	-0.007000	0.12747	4.219000	0.42581	-0.679000	0.04243	0.000000	0.06391	1.000000	0.68203	0.002000	0.04165	0.21:0.3267:0.4632:0.0	4.532	0.11414	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011122	0.005051	0.012262	0.026471	0.000000	0.017241	0.003067	0.003788	0.07143	1405.63	40	chr1	1045172	.	G	A	1405.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.3;DP=304;ExcessHet=0;FS=2.564;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=1.02;SOR=0.525	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr1	1047342	1047342	A	G	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon20:c.A3404G:p.Q1135R	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	0	1406	106	10	0	126	0.0428863	.	.	.	133748	not_specified|not_provided|Congenital_myasthenic_syndrome_8	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.192	.	0.0054	0.0139776	0.0143	0.0024	0.0027	0.0030	0.0046	0.0098	0.0141	0.0640	0.0127295	1968	154602	rs142416636	0.0098	0.0098	0.0081	0.0115	0.0567	0.0096	0.0096	0.0554	0.0548	0.0013	0.0030	0.0299	0.0018	0.0044	0.0307	0.0065	0.0129	0.0567	0.0077	0.0077	0.0071	0.0084	0.0574	0.0074	0.0072	0.0518	0.0497	0.0013	0	0.0042	0.0288	0.0046	0.0037	0.0238	0.0087	0.0118	0.0574	0.012	0.54683	D	0.007	0.69154	D	.	.	.	.	.	.	0.003679	0.34636	N	0.202957	0.921028	0.36678	D	2.135	0.59519	M	1.16	0.38073	T	-1.59	0.38345	N	0.519	0.54932	-1.0091	0.27198	T	0.074	0.29960	T	10	0.007086724	0.00161	T	.	.	.	0.192	0.47115	.	.	.	.	0.6762159472269722	0.67559	0.592570687533	0.54640	0.507688999176	0.39899	T	.	.	.	-0.44873	0.01149	T	-0.376367	0.36146	T	0.013385198865462	0.00242	T	0.836816	0.50885	T	.	.	.	.	.	.	.	.	-7.347	0.56529	T	.	.	0.109	0.38587	B	.;.	.;.	3.504255	0.49039	22.7	0.99389829152015619	0.62292	0.86197	0.45432	D	AEFBI	0.265116	0.38231	N	0.244303167897421	0.53358	3.504996	0.252757546594491	0.52807	3.453025	0.919847161373162	0.26614	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.16	4.16	0.48138	2.004000	0.40474	6.613000	0.56094	0.749000	0.86810	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	1.0:0.0:0.0:0.0	13.671	0.61899	940	0.13648	.;SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.029204	0.005051	0.024523	0.038012	0.000000	0.051724	0.018293	0.041667	0.07143	664.63	37	chr1	1047342	.	A	G	664.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.628;DP=234;ExcessHet=0;FS=1.064;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=-1.77;SOR=0.452	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr1	1049280	1049280	C	T	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon25:c.C4343T:p.P1448L	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	1	1511	10	0	0	10	0.00329815	.	.	.	514957	Congenital_myasthenic_syndrome_8|not_provided	MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.155	0.333334619255	0.0012	0.000998403	0.0011	0.0007	0.0020	0	0	0.0013	0	0.0008	0.0007309	113	154602	rs200232485	0.0010	0.0010	0.0011	0.0010	0.0024	0.0010	0.0010	0.0015	0.0012	0.0004	0.0010	7.706e-05	0	5.077e-05	0.0024	0.0012	0.0012	0.0004	0.0011	0.0011	0.0012	0.0010	0.0016	0.0009	0.0009	0.0013	0.0012	0.0006	0	0.0016	0	0	0	0.0068	0.0015	0.0014	0.0006	0.243	0.17526	T	0.376	0.16865	T	.	.	.	.	.	.	0.011579	0.29481	U	0.225469	0.996379	0.43168	D	1.49	0.37298	L	-0.93	0.75215	T	-2.75	0.58407	D	0.251	0.28498	-0.7763	0.56509	T	0.252	0.62178	T	10	0.019664317	0.00442	T	0.333335	0.91813	D	0.155	0.40530	.	.	0.737702582196	0.73536	0.5664000447503535	0.56568	0.133641560879	0.15049	0.684308111668	0.64888	T	.	.	.	-0.45854	0.01004	T	-0.481878	0.24246	T	0.00429805636149428	0.00046	T	0.670133	0.28201	T	.	.	.	.	.	.	.	.	-8.217	0.62539	D	.	.	0.084	0.09530	B	.;.	.;.	0.980890	0.13585	10.11	0.96303639421162202	0.29357	0.25897	0.22835	N	AEFBI	0.140284	0.26214	N	-0.917378409764807	0.10436	0.4986686	-0.909985172697628	0.11858	0.6066828	0.476908182742424	0.20753	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.37	3.45	0.38602	0.526000	0.22680	0.757000	0.21283	-1.090000	0.01539	0.017000	0.19353	0.004000	0.18990	0.000000	0.00833	0.0:0.7711:0.1448:0.0841	9.310	0.37062	940	0.13648	.;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003052	0.000000	0.002747	0.000000	0.000000	0.000000	0.009202	0.000000	0.07143	736.83	24	chr1	1049280	.	C	T	736.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.44;DP=209;ExcessHet=0;FS=5.356;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-0.783;SOR=1.839	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1131	6	0	1	0
chr1	1072179	1072179	G	C	exonic	RNF223	.	nonsynonymous SNV	RNF223:NM_001205252:exon2:c.C388G:p.R130G	.	412	1098	12	0	0	12	0.00543478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.556466431103	.	.	0.0013	0	0	0	.	0.0044	0	0.0003	0.0001229	19	154602	rs762881797	0.0003	0.0003	0.0003	0.0004	0.0122	0.0003	0.0003	0.0098	0.0089	7.201e-05	0.0004	0.0026	0	0	0.0122	0.0002	0.0007	0.0004	0.0003	0.0003	0.0003	0.0003	0.0014	0.0002	0.0002	0.0007	0.0005	4.814e-05	0	0.0003	0.0014	0	0	0.0034	0.0004	0.0009	0.0014	0.011	0.55530	D	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	0.998754	0.21933	N	1.79	0.46772	L	-1.83	0.84122	D	-2.39	0.52612	N	0.165	0.17416	-0.4418	0.70670	T	0.479	0.80083	T	7	0.009845018	0.00221	T	0.556466	0.95933	D	0.296	0.61616	.	.	0.569101917167	0.56574	0.2616413233270059	0.26077	.	.	0.701153516769	0.67310	T	0.009512	0.08653	T	-0.271752	0.11562	T	-0.310057	0.43653	T	0.0542068476359941	0.06223	T	0.746125	0.36682	T	0.11427351	0.26979	0.17014867	0.39103	0.11427351	0.26979	0.17014867	0.39102	-5.58	0.42610	T	.	.	0.201	0.42433	B	.	.	2.263322	0.28925	17.96	0.89982587219036936	0.19275	0.96348	0.68700	D	AEFDBI	0.518378	0.54410	D	-0.428625069645717	0.24471	1.321504	-0.481904859065645	0.22652	1.231428	0.965907127948371	0.28864	0.517182	0.21443	0	0.578056	0.33634	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	4.22	2.09	0.26154	3.147000	0.50335	5.421000	0.48566	-0.258000	0.06954	0.998000	0.41325	1.000000	0.68203	0.003000	0.05239	0.0:0.0:0.674:0.326	11.435	0.49310	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012158	0.007042	0.022727	0.025641	0.000000	0.000000	0.000000	0.000000	0.07143	1100.46	43	chr1	1072179	.	G	C	1100.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.705;DP=286;ExcessHet=0;FS=3.195;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-0.83;SOR=0.378	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,101,1275	6	0	1	0
chr1	1179704	1179704	G	A	exonic	TTLL10	.	nonsynonymous SNV	TTLL10:NM_001130045:exon5:c.G166A:p.G56S,TTLL10:NM_001371649:exon5:c.G166A:p.G56S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00397820462067	0.0011	0.000199681	0.0002	0.0016	0	0	0	0	0	0.0001	3.88e-05	6	154602	rs369896253	7.581e-05	7.32e-05	9.597e-05	5.509e-05	0.0026	6.392e-05	5.958e-05	0.0021	0.0020	0.0026	2.803e-05	0	0	0	0	1.02e-05	0.0001	7.574e-05	0.0004	0.0004	0.0003	0.0005	0.0015	0.0003	0.0003	0.0012	0.0011	0.0015	0	0	0.0009	0	0	0	0	0.0005	0	0.538	0.06847	T	0.583	0.08419	T	0.0	0.02946	B	0.0	0.01387	B	0.000055	0.00387	N	12.716500	1	0.08975	N	-0.895	0.01383	N	3.36	0.05918	T	0.15	0.05310	N	0.101	0.08366	-0.9638	0.38448	T	0.007	0.02360	T	10	0.0051733553	0.00112	T	0.003978	0.09431	T	0.010	0.01040	.	.	0.0297737177859	0.01360	0.130174628009243	0.12942	0.0271233603935	0.02770	0.36552080512	0.20187	T	0.002424	0.01816	T	-0.737891	0.00021	T	-0.839182	0.01111	T	0.00753282480113474	0.00087	T	0.321768	0.06536	T	0.031469267	0.02992	0.039788425	0.04154	0.031469267	0.02992	0.039788425	0.04154	-3.548	0.17110	T	.	.	0.082	0.10111	B	.;.	.;.	0.364494	0.07370	3.992	0.47886091647084794	0.03951	0.00253	0.01392	N	AEFDBCI	0.017451	0.00458	N	-1.97271994884126	0.00242	0.0103694	-2.00130673950801	0.00304	0.01343975	0.999933654158922	0.46732	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.37	-3.77	0.04062	-1.459000	0.02476	-1.383000	0.05568	-1.505000	0.01024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5477:0.1835:0.2688:0.0	4.040	0.09228	789	0.46346	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	551.63	33	chr1	1179704	.	G	A	551.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.45;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.49;ReadPosRankSum=0.453;SOR=0.575	GT:AD:DP:GQ:PL	0/1:42,23:65:99:562,0,969	6	0	1	0
chr1	1214100	1214100	G	A	exonic	TNFRSF4	.	nonsynonymous SNV	TNFRSF4:NM_003327:exon1:c.C28T:p.R10C	.	377	1075	66	4	0	74	0.0332734	.	.	.	447262	Combined_immunodeficiency_due_to_OX40_deficiency|TNFRSF4-related_disorder|not_provided	MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593,Orphanet:431149|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.118	.	0.0053	0.00519169	0.0151	0.0038	0.0060	0	0.0120	0.0141	0.0087	0.0318	0.0070504	1090	154602	rs35304565	0.0080	0.0080	0.0075	0.0085	0.0244	0.0079	0.0078	0.0235	0.0231	0.0015	0.0033	0.0093	5.145e-05	0.0058	0.0213	0.0074	0.0088	0.0244	0.0053	0.0053	0.0053	0.0052	0.0193	0.0050	0.0048	0.0161	0.0149	0.0018	0.0011	0.0056	0.0078	0	0.0040	0.0034	0.0068	0.0080	0.0193	0.007	0.59928	D	0.011	0.64786	D	0.981	0.59675	D	0.265	0.39681	B	0.001714	0.00817	N	4.085850	1	0.08975	N	0.895	0.22405	L	-0.02	0.62918	T	-2.58	0.55662	D	0.164	0.17278	-0.9026	0.47717	T	0.129	0.43848	T	10	0.0057964325	0.00129	T	.	.	.	0.118	0.32913	.	.	0.623996689363	0.62094	0.8368611785807644	0.83646	0.200386560108	0.22444	0.452319145203	0.32260	T	0.385507	0.74689	T	-0.476144	0.00779	T	-0.4378	0.29056	T	0.016484515701066	0.00413	T	0.526647	0.17353	T	0.17434712	0.38234	0.07939246	0.17868	0.1872518	0.40170	0.064411104	0.12905	-4.77	0.34240	T	.	.	0.341	0.56005	A	.	.	2.123526	0.27030	17.32	0.98421705000658088	0.41288	0.04202	0.09711	N	AEFDBCI	0.094465	0.19100	N	-0.538297404145678	0.20852	1.10236	-0.713258259078068	0.16631	0.8807004	0.999652904049022	0.41424	0.495158	0.18159	0	0.616935	0.53198	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.14	2.21	0.27042	-0.340000	0.07868	-5.498000	0.01697	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1456:0.0:0.8544:0.0	6.235	0.19967	789	0.46346	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016871	0.010638	0.015068	0.026316	0.000000	0.034483	0.018868	0.019084	0.07143	809.49	15	chr1	1214100	.	G	A	809.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.451;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.118;SOR=0.625	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1135	6	0	1	0
chr1	1471970	1471970	C	T	exonic	ATAD3B	.	nonsynonymous SNV	ATAD3B:NM_031921:exon1:c.C86T:p.A29V	.	436	1076	10	0	0	10	0.00462535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.968090006135	.	0.000599042	0	0	0	0	0	0	0	0	0.0002305	6	26028	rs533360758	0.0002	0.0002	0.0002	0.0002	0.0056	0.0002	0.0002	0.0047	0.0044	0	0.0002	0.0013	7.928e-05	5.944e-05	0.0017	3.906e-05	0.0007	0.0056	0.0004	0.0004	0.0003	0.0004	0.0059	0.0003	0.0003	0.0042	0.0036	2.428e-05	0	0.0001	0.0012	0.0014	0.0003	0	0.0001	0.0005	0.0059	0.16	0.23721	T	0.22	0.25907	T	0.011	0.15914	B	0.006	0.12133	B	0.363350	0.13636	N	0.714308	1	0.81001	D	1.5	0.37844	L	-2.26	0.87352	D	-1.21	0.30762	N	0.037	0.01135	-0.4664	0.69851	T	0.487	0.80446	T	10	0.053041577	0.05431	T	0.96809	0.99802	D	0.196	0.47777	0.137	0.04097	0.447803500395	0.44404	0.05428869536056328	0.05370	1.29910713327	0.82968	0.839954972267	0.88088	D	0.011854	0.10516	T	-0.0992011	0.36555	T	-0.380272	0.35689	T	0.100716508924961	0.12435	T	0.783822	0.42110	T	0.0576177	0.11489	0.045056257	0.05978	0.0576177	0.11488	0.045056257	0.05978	-4.758	0.34098	T	.	.	0.1	0.17146	B	.	.	1.809160	0.22993	15.84	0.99266306770050239	0.57390	0.71212	0.34916	D	AEFDGBCI	0.114216	0.22505	N	-0.550149059053511	0.20479	1.079861	-0.522708495877164	0.21537	1.165564	0.999999596573388	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.581474	0.35302	0	.	.	2.65	0.338	0.15214	0.020000	0.13359	0.677000	0.20646	0.441000	0.21086	0.001000	0.13787	0.116000	0.22850	0.008000	0.08271	0.0:0.5727:0.4273:0.0	9.830	0.40103	862	0.33134	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001718	0.000000	0.002732	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	412.64	12	chr1	1471970	.	C	T	412.64	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.411;DP=128;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=55.11;MQRankSum=-5.029;QD=12.89;ReadPosRankSum=-0.331;SOR=0.937	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:21,0:21:57:.:.:0,57,855:.	6	0	1	0
chr1	1520272	1520272	G	T	exonic	ATAD3A	.	nonsynonymous SNV	ATAD3A:NM_001170535:exon6:c.G646T:p.A216S,ATAD3A:NM_001170536:exon6:c.G409T:p.A137S,ATAD3A:NM_018188:exon6:c.G790T:p.A264S	Harel-Yoon syndrome, Autosomal recessive, Autosomal dominant	419	1077	26	0	0	26	0.0119266	.	.	.	1686913	not_provided|Harel-Yoon_syndrome|Pontocerebellar_hypoplasia,_hypotonia,_and_respiratory_insufficiency_syndrome,_neonatal_lethal	MedGen:C3661900|MONDO:MONDO:0014958,MedGen:C4310677,OMIM:617183,Orphanet:496790|MONDO:MONDO:0032931,MedGen:C5394137,OMIM:618810,Orphanet:615954	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.292	0.0955978924748	.	.	0.0018	0.0007	0.0025	0.0010	0.0005	0.0014	0	0.0044	0.0014215	37	26028	rs2767471	0.0021	0.0043	0.0020	0.0022	0.0075	0.0021	0.0020	0.0057	0.0055	0.0009	0.0026	0.0027	0.0008	0.0007	0.0075	0.0019	0.0026	0.0061	0.0023	0.0033	0.0022	0.0024	0.0092	0.0021	0.0020	0.0070	0.0062	0.0013	0.0034	0.0038	0.0038	0.0008	0.0005	0	0.0023	0.0053	0.0092	0.675	0.05341	T	0.781	0.04754	T	0.011	0.15914	B	0.021	0.19346	B	0.000001	0.84330	D	0.054326	0.999869	0.52396	D	1.015	0.25427	L	-2.51	0.94388	D	-0.1	0.08495	N	0.538	0.58543	-0.9533	0.40398	T	0.149	0.47628	T	10	0.015180975	0.00319	T	0.095598	0.76457	D	0.292	0.61157	.	.	0.932167581305	0.93147	0.687842377180206	0.68724	0.31987693866	0.34186	0.610906600952	0.54443	T	0.008686	0.07960	T	0.127993	0.67165	D	-0.0539229	0.66754	D	0.0335206877635964	0.02558	T	0.766023	0.39401	T	0.11585989	0.27334	0.111079946	0.26792	0.10818954	0.25581	0.13856177	0.33086	-7.469	0.60462	T	0.11934370030895095	0.11107	0.081	0.16800	B	.;.;.	.;.;.	2.800539	0.36834	20.3	0.79650746184235233	0.12838	0.98794	0.86939	D	AEFDGBI	0.838092	0.75565	D	0.0322615848157824	0.43327	2.627806	0.0445102551942682	0.41807	2.517902	0.99960244628919	0.40866	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.43	3.44	0.38486	7.393000	0.79126	8.274000	0.76893	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.104000	0.18471	0.0:0.0:0.8418:0.1582	13.273	0.59605	846	0.36215	.;ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020256	0.036458	0.004076	0.008264	0.050000	0.025862	0.034161	0.015267	0.07143	63.44	40	chr1	1520272	.	G	T	63.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.524;DP=321;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=53.07;MQRankSum=-1.036;QD=12.69;ReadPosRankSum=-1.645;SOR=1.179	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1354	6	0	1	0
chr1	1615612	1615612	C	A	exonic	MIB2	.	stopgain	MIB2:NM_001170688:exon1:c.C153A:p.C51X	.	405	1108	9	0	0	9	0.00404494	.	.	.	215186	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0011	.	0.0042	0.0005	0.0031	0.0007	0	0.0078	0	0.0007	0.0009379	145	154602	rs199741261	0.0012	0.0012	0.0011	0.0012	0.0083	0.0011	0.0011	0.0064	0.0057	0.0002	0.0013	0.0298	0	0	0.0083	0.0005	0.0035	0.0005	0.0014	0.0014	0.0013	0.0014	0.0010	0.0012	0.0012	0.0007	0.0007	7.216e-05	0	0.0010	0.0343	0	0	0.0137	0.0009	0.0038	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.102	0.13055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.352183	0.04590	T	-0.308742	0.43794	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Recessive	.;.;.;High	0.172966	0.05618	2.069	0.97635255178158264	0.35046	0.01743	0.05498	N	AEFGBHCIJ	0.031329	0.03323	N	-0.439352867474657	0.24103	1.299078	-0.853123424869877	0.13212	0.6841909	0.999999999604182	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	1.43	0.434	0.15752	-0.758000	0.04872	-2.227000	0.04029	-1.132000	0.01454	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7509:0.0:0.2491	3.998	0.09056	804	0.43891	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008172	0.005376	0.008197	0.011765	0.000000	0.025862	0.003145	0.003788	0.07143	436.83	24	chr1	1615612	.	C	A	436.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.26;DP=193;ExcessHet=0;FS=2.742;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-1.675;SOR=1.005	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	6	0	1	0
chr1	1756523	1756523	T	C	exonic	NADK	.	nonsynonymous SNV	NADK:NM_001198995:exon3:c.A383G:p.K128R,NADK:NM_001198993:exon5:c.A479G:p.K160R,NADK:NM_001353641:exon5:c.A479G:p.K160R,NADK:NM_001353642:exon5:c.A218G:p.K73R,NADK:NM_023018:exon5:c.A479G:p.K160R,NADK:NM_001198994:exon7:c.A914G:p.K305R	.	420	1100	2	0	0	2	0.000908265	.	.	.	3987127	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.093	0.0131533746627	.	.	4.135e-05	0	0.0004	0	0	0	0	0	3.23e-05	5	154602	rs771146301	6.157e-06	6.156e-06	6.807e-06	5.501e-06	0.0002	2.9e-06	2.1e-06	8.861e-05	6.427e-05	0	0.0002	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.278	0.28300	T	0.029	0.19866	B	0.053	0.25678	B	0.000069	0.52346	D	0.196102	0.999107	0.46078	D	0.535	0.13693	N	0.97	0.42502	T	-1.52	0.37955	N	0.187	0.20528	-1.0835	0.06683	T	0.081	0.32119	T	10	0.14025855	0.26662	T	0.013153	0.32325	T	0.093	0.26882	0.523	0.62668	0.537681692007	0.53419	0.4373522316360708	0.43652	.	.	0.511760115623	0.40468	T	0.094833	0.39497	T	-0.353137	0.04533	T	-0.475733	0.24901	T	0.155024364590645	0.17496	T	0.839116	0.51273	T	0.16593684	0.36898	0.11401806	0.27520	0.16593684	0.36897	0.11401806	0.27519	-5.959	0.45935	T	.	.	0.067	0.06159	B	.;.;.;.	.;.;.;.	2.692555	0.35150	19.82	0.99711876357030016	0.81423	0.97474	0.74982	D	AEFDBI	0.489545	0.52740	N	-0.0457154019592584	0.39793	2.352513	0.0947659351191909	0.44286	2.71323	0.992884816123516	0.33004	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.77	4.65	0.57626	3.928000	0.56220	1.949000	0.29874	0.665000	0.62972	1.000000	0.71638	0.998000	0.33993	0.607000	0.31564	0.0:0.0757:0.0:0.9243	10.658	0.44877	692	0.58729	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	818.53	77	chr1	1756523	.	T	C	818.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.632;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=0.693;SOR=0.787	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	6	0	1	0
chr1	2030055	2030055	C	G	exonic	GABRD	.	nonsynonymous SNV	GABRD:NM_000815:exon9:c.C1132G:p.R378G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.0844335498492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382	0.11120	T	0.386	0.15698	T	0.11	0.26188	B	0.069	0.27757	B	0.860429	0.07113	N	1.062530	0.580907	0.31100	N	-0.345	0.03330	N	-1.7	0.83072	D	-0.81	0.22294	N	0.145	0.14622	-0.6843	0.61173	T	0.296	0.66792	T	10	0.14054975	0.26714	T	0.084434	0.74324	D	0.188	0.46444	0.517	0.61763	0.563816864172	0.56044	0.6253666365787925	0.62469	0.963082485993	0.73071	0.349019825459	0.17777	T	0.161079	0.50518	T	-0.0853696	0.38839	T	-0.360404	0.38006	T	0.152740423142939	0.17320	T	0.906209	0.66975	D	0.074366726	0.16684	0.09556733	0.22673	0.074366726	0.16684	0.09556733	0.22672	-3.222	0.12751	T	.	.	0.076	0.14062	B	.;.;.;.	.;.;.;.	2.598231	0.33719	19.42	0.88593904453094197	0.18100	0.76783	0.37686	D	AEFDBI	0.431620	0.49383	N	-0.502670221273255	0.21994	1.171253	-0.375319464228222	0.25735	1.417086	0.372325521909137	0.19882	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.82	2.86	0.32427	2.089000	0.41297	3.912000	0.40415	0.549000	0.26987	0.958000	0.33488	1.000000	0.68203	0.876000	0.41813	0.4749:0.5251:0.0:0.0	9.072	0.35661	934	0.15400	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1040.53	40	chr1	2030055	.	C	G	1040.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.352;DP=269;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-1.859;SOR=0.788	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1230	6	0	1	0
chr1	2800593	2800593	C	A	exonic	TTC34	.	nonsynonymous SNV	TTC34:NM_001242672:exon1:c.G235T:p.G79C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.952e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.30820864	0.48318	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525947	0.17303	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.473	0.63348	A	.	.	4.640932	0.73888	26.1	0.75360822946684525	0.11045	0.90541	0.51802	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.0116002463434557	0.12208	0.056701	0.00814	0	0.063388	0.01293	0	0.074216	0.02223	0	0.062806	0.01542	0	0.900214	0.56720	4.6	4.6	0.56512	2.008000	0.40513	3.814000	0.39922	0.597000	0.34315	0.958000	0.33488	0.999000	0.35428	0.967000	0.53440	0.0:0.8964:0.0:0.1036	10.000	0.41094	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	30.01	1	chr1	2800593	.	C	A	30.01	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0;DP=10;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=7.5;ReadPosRankSum=-0.431;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:37:37,0,37	4	0	1	2
chr1	3186136	3186136	G	A	exonic	PRDM16	.	nonsynonymous SNV	PRDM16:NM_022114:exon2:c.G49A:p.V17I,PRDM16:NM_199454:exon2:c.G49A:p.V17I	Cardiomyopathy, dilated, 1LL, Autosomal dominant;Left ventricular noncompaction 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	448102	not_specified|PRDM16-related_disorder|not_provided|Left_ventricular_noncompaction_8	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0014152,MedGen:C3809288,OMIM:615373,Orphanet:154,Orphanet:54260	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.052	0.00863666447326	0.0010	0.00119808	0.0004	0.0043	0	0.0002	0	0	0	0	0.0003428	53	154602	rs183153140	0.0002	0.0002	0.0002	0.0002	0.0053	0.0001	0.0001	0.0047	0.0044	0.0053	0.0001	0	7.557e-05	1.917e-05	0.0003	3.148e-05	0.0002	2.319e-05	0.0013	0.0013	0.0014	0.0013	0.0048	0.0012	0.0011	0.0042	0.0040	0.0048	0	0	0	0	0	0	2.94e-05	0	0	1.0	0.02079	T	0.491	0.11515	T	0.001	0.07471	B	0.001	0.04355	B	0.772636	0.09535	N	0.839624	0.999867	0.19989	N	-0.29	0.03673	N	1.55	0.29866	T	0.09	0.05917	N	0.199	0.21969	-0.9665	0.37914	T	0.021	0.08824	T	10	0.003747195	0.00070	T	0.008637	0.22829	T	0.052	0.14661	.	.	0.161926535498	0.15789	0.09466399130353666	0.09398	0.286599048066	0.31053	0.401314437389	0.25252	T	0.003814	0.29325	T	-0.751556	0.00017	T	-0.851244	0.00944	T	0.00393074013857857	0.00042	T	0.445855	0.12478	T	0.021009019	0.00683	0.034126043	0.02423	0.017489644	0.00277	0.034485813	0.02524	-3.973	0.23398	T	.	.	0.067	0.05491	B	.;.;.;.	.;.;.;.	-1.632252	0.00225	0.003	0.8876347192275662	0.18236	0.04420	0.10012	N	AEFBI	0.042006	0.06462	N	-1.4464236670906	0.02245	0.09892897	-1.364206608079	0.03641	0.170275	0.842003394551785	0.24884	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	5.1	-4.66	0.03090	-0.571000	0.05979	-7.105000	0.01230	-2.829000	0.00178	0.141000	0.23520	0.000000	0.08366	0.874000	0.41677	0.6627:0.0999:0.2374:0.0	9.236	0.36627	983	0.02875	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.010101	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	678.44	34	chr1	3186136	.	G	A	678.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.636;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.665;SOR=0.743	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	6	0	1	0
chr1	3514627	3514627	C	T	exonic	MEGF6	.	nonsynonymous SNV	MEGF6:NM_001409:exon7:c.G776A:p.C259Y	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.942	0.374844724407	0.0007	.	0.0010	0	0.0015	0	0	0.0016	0.0037	0.0001	0.0004657	72	154602	rs61746170	0.0006	0.0006	0.0006	0.0006	0.0025	0.0005	0.0005	0.0015	0.0012	6.067e-05	0.0008	0.0066	0	0	0.0025	0.0005	0.0008	0.0002	0.0004	0.0004	0.0004	0.0004	0.0006	0.0003	0.0003	0.0004	0.0004	2.405e-05	0	0.0002	0.0043	0	0	0	0.0006	0.0005	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999624	0.47904	D	4.535	0.99082	H	-3.96	0.96208	D	-10.15	0.98897	D	0.957	0.96644	1.074	0.98695	D	0.966	0.98907	D	10	0.63522446	0.68743	D	0.374845	0.92833	D	0.942	0.98780	.	.	0.943591150741	0.94300	0.9764335598677684	0.97633	0.682638554122	0.60123	0.659506201744	0.61338	T	0.257311	0.62833	T	0.260558	0.79580	D	0.536742	0.95380	D	0.968768715858459	0.68355	D	0.824517	0.49813	T	0.96382153	0.97662	0.8992199	0.94920	0.96382153	0.97662	0.8992199	0.94921	-10.107	0.80615	D	.	.	0.917	0.86793	P	.;.	.;.	4.526193	0.71015	25.6	0.97465231372864414	0.34105	0.95458	0.64801	D	AEFDBI	0.792390	0.72070	D	0.680934272292089	0.78383	6.86059	0.475667940971909	0.66381	4.944723	0.999903842972298	0.45458	0.706298	0.61202	0	0.588066	0.40923	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.47	3.54	0.39650	5.575000	0.67129	5.712000	0.49429	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.678000	0.33484	0.0:0.8499:0.1501:0.0	14.260	0.65624	982	0.03397	.;EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002543	0.005319	0.000000	0.000000	0.000000	0.000000	0.012346	0.000000	0.07143	310.46	30	chr1	3514627	.	C	T	310.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.972;DP=202;ExcessHet=0;FS=4.815;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.57;ReadPosRankSum=-0.447;SOR=1.414	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,961	6	0	1	0
chr1	3752792	3752792	G	A	exonic	CCDC27	.	nonsynonymous SNV	CCDC27:NM_152492:exon1:c.G311A:p.R104K	.	426	1088	8	0	0	8	0.003663	.	.	.	707393	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.018	.	0.0073	0.00259585	0.0073	0.0016	0.0026	0	0.0055	0.0111	0.0037	0.0036	0.0069921	1081	154602	rs76597070	0.0098	0.0098	0.0100	0.0097	0.0118	0.0097	0.0096	0.0116	0.0115	0.0012	0.0033	0.0018	2.523e-05	0.0041	0.0026	0.0118	0.0074	0.0039	0.0063	0.0064	0.0067	0.0060	0.0111	0.0060	0.0059	0.0104	0.0102	0.0017	0.0033	0.0050	0.0009	0	0.0031	0	0.0111	0.0076	0.0023	0.383	0.11085	T	0.421	0.14075	T	0.007	0.14184	B	0.012	0.16012	B	0.033410	0.01770	N	2.401620	1	0.08975	N	0.625	0.15840	N	2.22	0.18248	T	-0.46	0.14978	N	0.076	0.05037	-1.0139	0.25688	T	0.018	0.07329	T	10	0.003395021	0.00059	T	.	.	.	0.018	0.03083	.	.	0.0716867268079	0.06686	0.05270353912556079	0.05212	0.346303647029	0.36533	0.228208944201	0.01838	T	0.005128	0.04570	T	-0.700079	0.00036	T	-0.768003	0.02834	T	0.00132913653060194	0.00013	T	0.289471	0.05256	T	0.04159904	0.06155	0.033386953	0.02226	0.04159904	0.06155	0.033386953	0.02226	-3.844	0.21463	T	.	.	0.106	0.19598	B	.	.	0.229510	0.06111	2.554	0.65504760637627757	0.07791	0.01382	0.04705	N	AEFGBI	0.039052	0.05616	N	-1.13407768304089	0.06046	0.277277	-1.16414888391226	0.06517	0.3139665	0.92124792655433	0.26665	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.95	-0.267	0.12298	-0.145000	0.10248	-0.137000	0.11557	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.4716:0.0:0.5284:0.0	6.504	0.21381	792	0.45996	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002525	0.005102	0.000000	0.000000	0.000000	0.000000	0.000000	0.011450	0.07143	893.83	37	chr1	3752792	.	G	A	893.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.844;DP=266;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-0.574;SOR=0.765	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr1	3781222	3781222	C	A	exonic	LRRC47	.	nonsynonymous SNV	LRRC47:NM_020710:exon7:c.G1618T:p.A540S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0203837692952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	0.02544	T	0.347	0.17640	T	0.008	0.14655	B	0.002	0.06944	B	0.012064	0.29301	N	0.373633	1	0.08975	N	0.805	0.20218	L	1.05	0.39990	T	-0.1	0.08495	N	0.07	0.04307	-0.9963	0.30946	T	0.035	0.14987	T	10	0.04924488	0.04487	T	0.020384	0.42963	T	0.019	0.03383	0.351	0.34922	0.316310170894	0.31242	0.05289342791977535	0.05231	0.264680432319	0.29017	0.346359610558	0.17385	T	0.01315	0.11424	T	-0.280739	0.10589	T	-0.641039	0.09593	T	0.108374528586864	0.13254	T	0.420658	0.11177	T	0.01713376	0.00249	0.028697094	0.01131	0.01713376	0.00249	0.028697094	0.01130	-3.23	0.12851	T	.	.	0.077	0.06295	B	.	.	0.297128	0.06730	3.241	0.8542549720414937	0.15885	0.29807	0.23918	N	AEFDBCI	0.129630	0.24788	N	-1.22417043914999	0.04652	0.2103883	-1.18584729089897	0.06145	0.2949057	0.975097573071527	0.29602	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.96	0.353	0.15294	-0.053000	0.11802	-0.302000	0.10107	0.549000	0.26987	0.001000	0.13787	0.000000	0.08366	0.024000	0.12247	0.2328:0.3914:0.3757:0.0	9.561	0.38536	851	0.35303	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	807.44	46	chr1	3781222	.	C	A	807.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.167;DP=249;ExcessHet=0;FS=2.303;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-0.38;SOR=0.922	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1031	6	0	1	0
chr1	3836493	3836493	A	C	splicing	CEP104	NM_014704:exon10:c.1317+2T>G	.	.	Joubert syndrome 25, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.96	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.735e-05	6.102e-05	3.846e-05	3.617e-05	0.0004	2.688e-05	2.371e-05	0.0002	0.0002	7.327e-05	7.78e-05	0.0003	0	0	0	1.969e-05	5.547e-05	0.0004	5.197e-05	0.0006	0.0001	0	0.0002	0	0	.	.	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.591722	0.72633	25.9	0.99213772171432246	0.55685	0.99525	0.97065	D	AEFDBI	.	.	.	1.04252772716544	0.96910	15.31459	0.857870838013166	0.93466	12.06219	0.999999134379761	0.74766	0.163922	0.03765	0	0.156668	0.03792	0	0.060301	0.00762	0	0.117559	0.03655	0	0.948117	0.61440	5.68	5.68	0.88021	8.725000	0.91200	10.879000	0.84044	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.393000	0.26625	1.0:0.0:0.0:0.0	15.110	0.72020	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	102.52	23	chr1	3836493	.	A	C	102.52	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.415;DP=175;ExcessHet=0.3476;FS=8.097;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1.31;ReadPosRankSum=1.76;SOR=2.165	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:23,0:23:26:.:.:0,26,566:.	3	0	2	2
chr1	5874527	5874527	C	T	exonic	NPHP4	.	nonsynonymous SNV	NPHP4:NM_001291594:exon18:c.G1639A:p.A547T,NPHP4:NM_001291593:exon19:c.G1636A:p.A546T,NPHP4:NM_015102:exon22:c.G3175A:p.A1059T	Nephronophthisis 4, Autosomal recessive;Senior-Loken syndrome 4, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	493743	Nephronophthisis|not_provided|NPHP4-related_disorder|Nephronophthisis_4|Senior-Loken_syndrome_4	Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MedGen:C3661900|MedGen:CN239384|MONDO:MONDO:0011752,MedGen:C1847013,OMIM:606966,Orphanet:655|MONDO:MONDO:0011756,MedGen:C1846979,OMIM:606996,Orphanet:3156	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.054	0.0337703547956	7.9e-05	0.000199681	0.0009	0	0.0013	0	0	0.0013	0	0.0007	0.000304	47	154602	rs202004152	0.0005	0.0005	0.0004	0.0005	0.0009	0.0004	0.0004	0.0008	0.0007	0.0001	0.0002	0	2.6e-05	3.901e-05	0	0.0005	0.0004	0.0009	0.0003	0.0003	0.0002	0.0003	0.0023	0.0002	0.0002	0.0013	0.0010	7.218e-05	0	0.0001	0	0.0002	0	0	0.0004	0.0005	0.0023	0.105	0.29823	T	0.086	0.40909	T	0.067	0.23653	B	0.016	0.17743	B	0.039270	0.24189	N	0.385420	0.908755	0.27552	N	1.2	0.30300	L	-0.56	0.71187	T	-0.64	0.18670	N	0.178	0.19190	-0.7399	0.58457	T	0.236	0.60270	T	10	0.01597032	0.00336	T	0.03377	0.55213	D	0.054	0.15330	.	.	0.692139028704	0.68949	0.5422276102465641	0.54147	0.0648658095776	0.07242	0.267917722464	0.05871	T	0.137384	0.47029	T	-0.451848	0.01102	T	-0.472265	0.25272	T	0.0133811253446443	0.00242	T	0.709329	0.31993	T	0.02718052	0.01873	0.05809837	0.10678	0.02718052	0.01873	0.05809837	0.10677	-8.116	0.61859	D	0.3363155950039433	0.43422	0.086	0.10642	B	.	.	1.663524	0.21216	15.10	0.99640598785102441	0.76633	0.35509	0.25318	N	AEFDBI	0.100713	0.20244	N	-0.363390326333374	0.26783	1.464387	-0.296045332797433	0.28228	1.572258	0.863116193904333	0.25265	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.491896	0.07777	0	.	.	5.38	2.47	0.29113	0.501000	0.22286	-0.274000	0.10324	-0.171000	0.11205	0.057000	0.21666	0.000000	0.08366	0.957000	0.51019	0.0:0.7833:0.0:0.2167	9.953	0.40817	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1002.27	37	chr1	5874527	.	C	T	1002.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.76;DP=258;ExcessHet=0;FS=2.968;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-0.644;SOR=1.01	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1252	5	0	1	1
chr1	5874879	5874879	C	G	exonic	NPHP4	.	nonsynonymous SNV	NPHP4:NM_001291594:exon17:c.G1503C:p.E501D,NPHP4:NM_001291593:exon18:c.G1500C:p.E500D,NPHP4:NM_015102:exon21:c.G3039C:p.E1013D	Nephronophthisis 4, Autosomal recessive;Senior-Loken syndrome 4, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	824267	Nephronophthisis_4|Senior-Loken_syndrome_4|Nephronophthisis	MONDO:MONDO:0011752,MedGen:C1847013,OMIM:606966,Orphanet:655|MONDO:MONDO:0011756,MedGen:C1846979,OMIM:606996,Orphanet:3156|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.308	0.059211062367	.	.	4.172e-05	0	0	0	0	1.511e-05	0.0011	0.0002	3.23e-05	5	154602	rs747091960	4.653e-05	4.652e-05	1.906e-05	7.428e-05	0.0009	3.729e-05	3.413e-05	0.0004	0.0004	0	2.236e-05	0	0	0	0.0009	1.799e-06	0.0002	0.0005	3.287e-05	3.284e-05	0	6.729e-05	0.0008	1.261e-05	7.98e-06	0.0003	0.0002	0	0	6.544e-05	0	0	0	0	0	0	0.0008	0.1	0.30515	T	0.291	0.20944	T	0.999	0.77913	D	0.957	0.69900	D	0.000002	0.62929	D	0.000000	0.986612	0.40459	D	2.26	0.64354	M	-0.9	0.74896	T	-1.6	0.38540	N	0.327	0.36779	-0.2887	0.75301	T	0.425	0.76863	T	10	0.22529969	0.39355	T	0.059211	0.67586	D	0.308	0.62947	0.345	0.33950	0.805776217543	0.80396	0.7124220349441102	0.71184	0.288680927645	0.31276	0.518929004669	0.41476	T	0.220112	0.58331	T	-0.286859	0.09953	T	-0.321869	0.42369	T	0.225108474493027	0.21716	T	0.766023	0.39401	T	0.22301376	0.44913	0.11327788	0.27337	0.22301376	0.44913	0.11327788	0.27336	-8.64	0.65352	D	0.6204327482001281	0.68876	0.243	0.47708	B	.	.	2.644294	0.34418	19.62	0.99663434606880952	0.78074	0.93257	0.57736	D	AEFDBI	0.496326	0.53132	N	0.282345499253141	0.55252	3.68952	0.222826941195298	0.51117	3.297005	0.996837048628025	0.35047	0.695654	0.57023	0	0.546412	0.12157	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.95	4.04	0.46262	1.546000	0.35787	1.654000	0.27862	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.857000	0.40602	0.1641:0.7517:0.0:0.0843	7.495	0.26654	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	849.53	34	chr1	5874879	.	C	G	849.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.262;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=1.65;SOR=0.756	GT:AD:DP:GQ:PL	0/1:49,37:86:99:860,0,1205	6	0	1	0
chr1	5874979	5874979	G	A	exonic	NPHP4	.	nonsynonymous SNV	NPHP4:NM_001291594:exon17:c.C1403T:p.T468M,NPHP4:NM_001291593:exon18:c.C1400T:p.T467M,NPHP4:NM_015102:exon21:c.C2939T:p.T980M	Nephronophthisis 4, Autosomal recessive;Senior-Loken syndrome 4, Autosomal recessive	0	1517	3	2	0	7	0.00230187	.	.	.	273272	Inborn_genetic_diseases|Nephronophthisis_4|Senior-Loken_syndrome_4|not_specified|Nephronophthisis|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011752,MedGen:C1847013,OMIM:606966,Orphanet:655|MONDO:MONDO:0011756,MedGen:C1846979,OMIM:606996,Orphanet:3156|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.486	0.204354671233	.	.	5.829e-05	0	0	0	0.0002	3.019e-05	0	0.0002	4.53e-05	7	154602	rs199645515	6.095e-05	6.156e-05	6.132e-05	6.056e-05	0.0002	5.033e-05	4.676e-05	0.0001	9.45e-05	0	8.944e-05	0	0	0.0003	0.0002	4.407e-05	6.628e-05	0.0002	6.57e-05	6.566e-05	5.138e-05	8.07e-05	0.0004	3.516e-05	2.616e-05	7.287e-05	3.028e-05	2.412e-05	0	6.542e-05	0	0	9.414e-05	0	5.88e-05	0.0005	0.0004	0.006	0.61437	D	0.007	0.69154	D	1.0	0.90584	D	0.999	0.92359	D	0.000554	0.43413	D	0.159288	0.997489	0.43926	D	2.83	0.82355	M	-2.43	0.88689	D	-3.42	0.67241	D	0.545	0.57177	0.815	0.94600	D	0.818	0.93862	D	10	0.6148647	0.67649	D	0.204355	0.86926	D	0.486	0.77464	0.313	0.28774	0.943893243587	0.94330	0.7264677464608235	0.72590	0.39982671401	0.40996	0.451912611723	0.32205	T	0.548963	0.84692	D	-0.0636963	0.42327	T	-0.0695927	0.65654	T	0.546569466590881	0.34349	D	0.90041	0.65400	D	0.14619029	0.33477	0.1680415	0.38733	0.14619029	0.33476	0.1680415	0.38732	-7.088	0.54674	T	0.8315262866048567	0.90223	0.097	0.16010	B	.	.	3.746340	0.53679	23.4	0.99872735043617289	0.94989	0.94234	0.60522	D	AEFDBI	0.415320	0.48423	N	0.591119029757443	0.72620	5.834467	0.497041157499361	0.67793	5.131906	0.999955318458322	0.48110	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	5.275000	0.65386	6.406000	0.55586	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.353000	0.25727	0.0:0.0:1.0:0.0	17.064	0.86427	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.000000	0.07143	888.44	34	chr1	5874979	.	G	A	888.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.837;DP=309;ExcessHet=0;FS=1.008;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-0.339;SOR=0.65	GT:AD:DP:GQ:PL	0/0:89,0:89:99:0,120,1800	6	0	1	0
chr1	5947199	5947199	G	A	exonic	NPHP4	.	nonsynonymous SNV	NPHP4:NM_015102:exon9:c.C1024T:p.R342C	Nephronophthisis 4, Autosomal recessive;Senior-Loken syndrome 4, Autosomal recessive	0	1475	45	2	0	49	0.0163388	.	.	.	265418	Kidney_disorder|Nephronophthisis|not_specified|not_provided|Nephronophthisis_4|Senior-Loken_syndrome_4	Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011752,MedGen:C1847013,OMIM:606966,Orphanet:655|MONDO:MONDO:0011756,MedGen:C1846979,OMIM:606996,Orphanet:3156	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.765	0.0964403851515	0.0007	0.00199681	0.0014	0.0002	0.0008	0	0	0.0010	0.0011	0.0052	0.0013583	210	154602	rs190940697	0.0012	0.0012	0.0009	0.0014	0.0151	0.0011	0.0011	0.0126	0.0116	0.0003	0.0020	0.0015	0.0001	3.746e-05	0.0151	0.0008	0.0018	0.0058	0.0013	0.0013	0.0010	0.0017	0.0059	0.0012	0.0011	0.0049	0.0045	0.0002	0	0.0059	0.0006	0	9.43e-05	0.0205	0.0011	0.0009	0.0052	0.003	0.68238	D	0.003	0.76473	D	0.998	0.73220	D	0.804	0.58350	P	0.007431	0.31401	N	0.257748	0.998941	0.45735	D	2.395	0.69210	M	-2.46	0.88924	D	-4.06	0.74582	D	0.435	0.47395	0.586	0.91707	D	0.734	0.90909	D	10	0.013156593	0.00280	T	0.09644	0.76602	D	0.765	0.92046	.	.	0.976226049668	0.97597	0.5212246757217461	0.52045	0.0998960403143	0.11286	0.439795911312	0.30549	T	0.561929	0.85350	D	-0.059776	0.42943	T	0.143002	0.79739	D	0.0586649188702594	0.06956	T	0.872813	0.58483	D	0.19836012	0.41736	0.19956864	0.43846	0.19706526	0.41557	0.21434619	0.45980	-7.055	0.54435	T	0.6801097756995307	0.75638	0.108	0.20586	B	.;.	.;.	4.764337	0.77065	26.6	0.99940997024722089	0.99797	0.86448	0.45730	D	AEFDBI	0.486785	0.52581	N	0.577825742241334	0.71791	5.705099	0.571575723889554	0.72910	5.884972	0.994230220112496	0.33546	0.706548	0.73137	0	0.724815	0.89359	0	0.786243	0.99158	0	0.699875	0.68795	0	.	.	5.26	5.26	0.73479	2.983000	0.49035	7.261000	0.57960	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	14.381	0.66476	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012109	0.005051	0.013587	0.017647	0.000000	0.008621	0.003067	0.018939	0.08333	585.27	33	chr1	5947199	.	G	A	585.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.37;DP=216;ExcessHet=0;FS=6.396;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-1.184;SOR=1.806	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1028	5	0	1	1
chr1	6051658	6051658	G	A	exonic	KCNAB2	.	nonsynonymous SNV	KCNAB2:NM_001199862:exon2:c.G122A:p.R41Q	.	414	1081	26	1	0	28	0.0127854	.	.	.	3206907	KCNAB2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.206	0.22873351886	.	0.000599042	0.0028	0	0.0083	0	.	0.0020	0	0.0032	0.0003428	53	154602	rs530635823	0.0008	0.0008	0.0007	0.0010	0.0104	0.0008	0.0008	0.0080	0.0072	0.0003	0.0019	3.974e-05	0	5.938e-05	0.0104	0.0006	0.0014	0.0033	0.0010	0.0010	0.0008	0.0012	0.0046	0.0009	0.0008	0.0037	0.0034	9.619e-05	0	0.0046	0	0	9.409e-05	0.0136	0.0008	0.0019	0.0031	0.008	0.58626	D	0.431	0.13673	T	0.837	0.46346	P	0.107	0.31211	B	0.000133	0.49741	D	0.129397	0.999469	0.81001	D	.	.	.	3.44	0.05375	T	-0.69	0.19720	N	0.479	0.51405	-0.9852	0.33784	T	0.016	0.06569	T	9	0.005346626	0.00117	T	0.228734	0.88151	D	0.206	0.49396	0.341	0.33302	0.342376198884	0.33841	0.6154562840852038	0.61477	1.57708980324	0.88325	0.570121884346	0.48695	T	.	.	.	-0.38435	0.02924	T	-0.326974	0.41806	T	0.102805372171688	0.12663	T	0.867113	0.56785	D	.	.	.	.	.	.	.	.	-3.656	0.18671	T	.	.	0.107	0.19958	B	.	.	4.584108	0.72443	25.8	0.99902879658461696	0.97426	0.93198	0.57581	D	AEFDBHCI	0.936377	0.93260	D	0.423690409344679	0.62727	4.493526	0.516051138107036	0.69067	5.308078	0.999999997791724	0.74766	0.428477	0.06694	0	0.379588	0.06130	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.26	5.26	0.73479	9.256000	0.94719	11.547000	0.93161	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	17.864	0.88704	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005525	0.006494	0.000000	0.018987	0.000000	0.000000	0.000000	0.000000	0.07143	485.53	34	chr1	6051658	.	G	A	485.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.5;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=0.636;SOR=0.765	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,103,1119	6	0	1	0
chr1	6146240	6146240	T	A	exonic	CHD5	.	nonsynonymous SNV	CHD5:NM_015557:exon11:c.A1774T:p.M592L	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.00670068053859	.	.	2.473e-05	0	0	0	0	1.5e-05	0	0.0001	1.94e-05	3	154602	rs760587600	8.893e-06	8.893e-06	5.445e-06	1.238e-05	0.0002	4.96e-06	3.82e-06	8.886e-05	7.054e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.754	0.03544	T	0.901	0.03039	T	0.001	0.07471	B	0.002	0.06944	B	0.000002	0.62929	D	0.055727	0.999885	0.81001	D	0.055	0.08163	N	-0.49	0.70365	T	-1.24	0.31375	N	0.432	0.47115	-0.9420	0.42298	T	0.155	0.48687	T	10	0.15288624	0.28869	T	0.006701	0.17699	T	0.140	0.37593	0.572	0.69564	0.379559396232	0.37572	0.6884269438221391	0.68782	0.417224693402	0.42347	0.681634664536	0.64504	T	0.056186	0.30216	T	-0.196557	0.21303	T	-0.283448	0.46450	T	0.125032240497914	0.14915	T	0.947205	0.79675	D	0.44296312	0.63593	0.18470508	0.41539	0.44296312	0.63594	0.18470508	0.41538	-4.417	0.29786	T	.	.	0.160	0.35331	B	.	.	3.506508	0.49089	22.7	0.9150130679260019	0.20775	0.97683	0.76388	D	AEFDGBIJ	0.731842	0.67879	D	-0.422579949557253	0.24680	1.334311	-0.235092807736645	0.30287	1.704062	0.999999899823363	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.85	3.85	0.43556	3.968000	0.56516	5.001000	0.46597	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.098	0.58618	845	0.36510	Chromo/chromo shadow domain|Chromo/chromo shadow domain|Chromo/chromo shadow domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1216.53	33	chr1	6146240	.	T	A	1216.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.154;DP=283;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=0.795;SOR=0.643	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1193	6	0	1	0
chr1	6149250	6149250	T	C	exonic	CHD5	.	nonsynonymous SNV	CHD5:NM_015557:exon8:c.A1157G:p.H386R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595	0.0481213798274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.895e-07	2.052e-06	0	1.389e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.30800	T	0.008	0.67890	D	0.77	0.43887	P	0.404	0.44625	B	0.000001	0.84330	U	0.000000	0.999995	0.81001	D	-0.255	0.03828	N	-1.77	0.83660	D	-6.58	0.91956	D	0.548	0.57433	-0.2356	0.76740	T	0.356	0.71842	T	10	0.57245314	0.65394	D	0.048121	0.63233	D	0.595	0.83911	0.426	0.47185	0.803554204583	0.80171	0.5609846680738644	0.56025	1.02953252697	0.75381	0.817249715328	0.84606	D	0.297108	0.66972	T	0.111244	0.65481	D	-0.0779825	0.65051	T	0.967318713665009	0.67868	D	0.930707	0.74322	D	0.6162882	0.73564	0.69097966	0.81815	0.6162882	0.73565	0.69097966	0.81816	-12.538	0.87372	D	.	.	0.993	0.94496	P	.	.	4.520596	0.70871	25.6	0.99214106223145915	0.55685	0.93169	0.57505	D	AEFDBCI	0.954488	0.97162	D	0.092770990523195	0.46126	2.857865	0.134018516515997	0.46299	2.878286	0.999999999938095	0.74766	0.403107	0.06075	0	0.578056	0.33634	0	0.608004	0.38603	0	0.562822	0.20929	0	.	.	4.03	4.03	0.46115	7.965000	0.87496	7.615000	0.62066	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.688000	0.33778	0.0:0.0:0.0:1.0	13.272	0.59600	824	0.40336	Zinc finger, PHD-finger|Zinc finger, PHD-type, conserved site|Zinc finger, PHD-finger|Zinc finger, PHD-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	167.83	28	chr1	6149250	.	T	C	167.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.91;DP=194;ExcessHet=0;FS=8.86;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.99;ReadPosRankSum=-0.769;SOR=3.126	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1353	6	0	1	0
chr1	6448885	6448885	C	T	exonic	ESPN	.	nonsynonymous SNV	ESPN:NM_031475:exon8:c.C1709T:p.P570L	Deafness, autosomal recessive 36, Autosomal recessive;Deafness, neurosensory, without vestibular involvement, autosomal dominant (3)	5	1468	48	1	0	50	0.0167448	.	.	.	439091	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.036	.	.	0.0103834	0.0717	0.0556	0.0556	0.05	.	0.05	0.0556	0.0770	0.0021539	333	154602	rs527968078	0.0057	0.0055	0.0052	0.0062	0.0271	0.0056	0.0055	0.0254	0.0247	0.0016	0.0153	0.0166	0.0271	0.0096	0.0206	0.0040	0.0065	0.0214	0.0060	0.0061	0.0055	0.0065	0.0174	0.0057	0.0056	0.0144	0.0133	0.0010	0	0.0122	0.0150	0.0150	0.0118	0.0240	0.0048	0.0071	0.0174	0.002	0.72154	D	0.003	0.76473	D	0.0	0.02946	B	0.001	0.04355	B	0.682431	0.10247	N	0.819423	0.866195	0.81001	D	0	0.06538	N	-0.11	0.64445	T	-0.31	0.12099	N	0.023	0.00407	-0.9755	0.36015	T	0.084	0.32843	T	10	0.002673477	0.00041	T	.	.	.	0.036	0.09122	.	.	.	.	0.1366551528883657	0.13589	0.14692160482	0.16579	0.814818620682	0.84232	D	0.050058	0.28486	T	-0.584215	0.00182	T	-0.592364	0.13461	T	0.0235663459691323	0.01091	T	0.731327	0.34690	T	0.09153358	0.21449	0.13736086	0.32835	0.08325275	0.19218	0.10993142	0.26499	-4.304	0.28232	T	.	.	0.080	0.22171	B	.;.;.;.	.;.;.;.	2.423806	0.31168	18.66	0.98997328779848048	0.50065	0.01974	0.05975	N	AEFDBHCIJ	0.081452	0.16482	N	-0.986560555147902	0.08889	0.4185977	-0.86336138322725	0.12966	0.6700624	0.999999999374865	0.74766	0.59774	0.34471	0	0.541168	0.11318	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.0	0.938	0.18625	-0.552000	0.06110	2.361000	0.32372	0.446000	0.21189	0.000000	0.06391	0.937000	0.28687	0.512000	0.29290	0.0:0.5768:0.1312:0.292	6.157	0.19558	833	0.38804	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.008681	0.000000	0.000000	0.026667	0.000000	0.000000	0.007937	0.000000	0.07143	244.63	18	chr1	6448885	.	C	T	244.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.042;DP=140;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=2.11;SOR=0.693	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,904	6	0	1	0
chr1	6471505	6471505	G	A	exonic	PLEKHG5	.	nonsynonymous SNV	PLEKHG5:NM_001042664:exon12:c.C1264T:p.L422F,PLEKHG5:NM_001042665:exon12:c.C1264T:p.L422F,PLEKHG5:NM_001265593:exon12:c.C1471T:p.L491F,PLEKHG5:NM_001265594:exon12:c.C1264T:p.L422F,PLEKHG5:NM_020631:exon12:c.C1264T:p.L422F,PLEKHG5:NM_001042663:exon13:c.C1375T:p.L459F,PLEKHG5:NM_001265592:exon13:c.C1375T:p.L459F,PLEKHG5:NM_198681:exon13:c.C1264T:p.L422F	Charcot-Marie-Tooth disease, recessive intermediate C, Autosomal recessive;Spinal muscular atrophy, distal, autosomal recessive, 4, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	557417	Inborn_genetic_diseases|Charcot-Marie-Tooth_disease_recessive_intermediate_C|Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_4	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014154,MedGen:C3809309,OMIM:615376,Orphanet:369867|MONDO:MONDO:0012608,MedGen:C1970211,OMIM:611067,Orphanet:206580	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.0777517441959	.	.	8.065e-05	0	0	0	0	0	0.0015	0.0005	5.17e-05	8	154602	rs779799130	4.183e-05	4.173e-05	2.456e-05	5.927e-05	0.0004	3.318e-05	3.008e-05	0.0003	0.0002	0	0	0	0	0	0	2.43e-05	3.324e-05	0.0004	2.626e-05	2.625e-05	0	5.371e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.416	0.09958	T	0.172	0.30241	T	0.009	0.15093	B	0.009	0.16460	B	0.001457	0.38980	N	0.277748	0.869665	0.30471	N	2.23	0.63091	M	0.49	0.55775	T	-1.68	0.40082	N	0.334	0.39153	-0.9990	0.30199	T	0.114	0.40536	T	10	0.096847	0.17399	T	0.077752	0.72844	D	0.053	0.14996	.	.	0.339074221408	0.33521	0.46468038131333417	0.46387	0.281092337101	0.30582	0.49745631218	0.38474	T	0.151105	0.49089	T	-0.31159	0.07608	T	-0.374836	0.36325	T	0.0998476181162367	0.12341	T	0.760024	0.38453	T	0.10692921	0.25284	0.11818776	0.28530	0.10692921	0.25284	0.11818776	0.28529	-8.728	0.66810	D	0.5702488985923231	0.63746	0.167	0.36850	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.992076	0.39950	21.1	0.97091630110879024	0.32328	0.90362	0.51477	D	AEFDBHCI	0.493877	0.52991	N	-0.33493887278869	0.27829	1.53004	-0.200638339402338	0.31514	1.784195	0.999999999990335	0.74766	0.72623	0.87236	0	0.610034	0.51514	0	0.594344	0.31042	0	0.711	0.71501	0	.	.	5.1	2.96	0.33383	3.636000	0.54058	5.519000	0.48817	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0882:0.0:0.7663:0.1456	8.693	0.33439	835	0.38313	.;.;.;.;.;.;.;.;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	2934.63	35	chr1	6471505	.	G	A	2934.63	.	AC=2;AF=0.143;AN=14;DP=274;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=29.95;SOR=0.82	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	1	0	0
chr1	6574913	6574913	C	T	exonic	TAS1R1	.	nonsynonymous SNV	TAS1R1:NM_138697:exon3:c.C781T:p.R261C	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464	0.118733845383	0.0002	.	0.0003	9.688e-05	0.0003	0.0002	0	0.0004	0.0011	0.0001	0.0002781	43	154602	rs149223608	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0009	0.0001	0.0002	0	5.039e-05	3.75e-05	0.0021	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	2.411e-05	0	0.0002	0.0003	0	0	0	0.0002	0.0005	0.0008	0.055	0.38407	T	0.077	0.42436	T	0.952	0.54136	P	0.657	0.52725	P	0.000759	0.00682	N	3.967890	0.999981	0.20048	N	2.05	0.56469	M	-1.77	0.83660	D	-1.85	0.43334	N	0.273	0.30914	-0.3752	0.72802	T	0.438	0.77727	T	10	0.1572245	0.29593	T	0.118734	0.79885	D	0.464	0.76023	.	.	0.615802107288	0.61270	0.21364724388031064	0.21280	0.643618189447	0.57884	0.25493657589	0.04306	T	0.377899	0.74098	T	-0.233682	0.16164	T	-0.255371	0.49285	T	0.0979910973529394	0.12135	T	0.754725	0.37732	T	0.1437332	0.33022	0.14100137	0.33591	0.1437332	0.33022	0.14100137	0.33591	-8.254	0.62788	D	.	.	0.146	0.32153	B	.	.	1.571685	0.20120	14.60	0.98854425506763832	0.47356	0.05780	0.11713	N	AEFBI	0.108367	0.21561	N	-0.883303962365444	0.11240	0.5413256	-1.17186497347375	0.06383	0.3071024	0.999515872561479	0.40117	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.87	-7.91	0.01031	-1.048000	0.03628	-5.727000	0.01616	-0.952000	0.02027	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1924:0.2527:0.3079:0.247	1.056	0.01491	813	0.42397	Receptor, ligand binding region	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	1118.45	82	chr1	6574913	.	C	T	1118.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.19;DP=263;ExcessHet=0;FS=1.847;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-0.879;SOR=0.952	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1156	6	0	1	0
chr1	6630303	6630303	A	G	exonic	THAP3	.	nonsynonymous SNV	THAP3:NM_001195752:exon3:c.A280G:p.T94A,THAP3:NM_138350:exon3:c.A283G:p.T95A,THAP3:NM_001195753:exon4:c.A283G:p.T95A	.	425	1090	7	0	0	7	0.00320073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.270	0.0613799549596	0.0002	0.000199681	0.0006	0	0	0	0	0.0001	0	0.0037	0.0004786	74	154602	rs148747343	0.0003	0.0003	0.0002	0.0005	0.0042	0.0003	0.0003	0.0038	0.0037	0	2.236e-05	0	2.519e-05	0	0.0010	6.205e-05	0.0003	0.0042	0.0002	0.0002	0.0001	0.0003	0.0044	0.0001	0.0001	0.0029	0.0024	2.405e-05	0	6.536e-05	0.0003	0	0	0	8.82e-05	0	0.0044	0.177	0.22224	T	1.0	0.03569	T	0.004	0.18235	B	0.005	0.15521	B	0.994509	0.08008	N	0.996963	1	0.81001	D	1.1	0.28011	L	-3.42	0.96402	D	-1.12	0.28906	N	0.049	0.06720	-0.2432	0.76543	T	0.674	0.88729	D	10	0.0040020645	0.00077	T	0.06138	0.68313	D	0.270	0.58507	.	.	0.553267683787	0.54984	0.4349880892945823	0.43415	0.332213599554	0.35278	0.331973135471	0.15233	T	0.012417	0.10917	T	-0.364904	0.03860	T	-0.297456	0.44992	T	0.0077044751579635	0.00090	T	0.526647	0.17353	T	0.053934474	0.10277	0.047416437	0.06826	0.053934474	0.10276	0.047416437	0.06826	-2.969	0.12117	T	.	.	0.067	0.02702	B	.;.;.	.;.;.	0.901047	0.12752	9.269	0.93570141926002548	0.23412	0.05144	0.10955	N	AEFGBI	0.065149	0.12691	N	-0.859857137320304	0.11808	0.5719111	-0.763990370126673	0.15380	0.8085368	0.87874791393147	0.25572	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.25	0.673	0.17109	-0.067000	0.11538	0.124000	0.14956	0.733000	0.85838	0.064000	0.21895	0.000000	0.08366	0.997000	0.79791	0.6517:0.0:0.3483:0.0	5.804	0.17693	759	0.50631	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	449.63	24	chr1	6630303	.	A	G	449.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.987;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=-1.78;SOR=0.757	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	6	0	1	0
chr1	7933279	7933279	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A562G:p.I188V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00322881089952	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1422125870	4.106e-06	4.104e-06	1.362e-06	6.879e-06	6.963e-05	1.48e-06	9.7e-07	2.997e-05	2.039e-05	0	0	0	0	0	0	0	0	6.963e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.766	0.03421	T	0.615	0.27855	T	0.001	0.07471	B	0.001	0.04355	B	0.001980	0.00848	N	2.877280	1	0.08975	N	2.225	0.63025	M	3.26	0.46028	T	-0.29	0.11728	N	0.07	0.04307	-0.9800	0.35002	T	0.013	0.05081	T	10	0.06785095	0.09512	T	0.003229	0.07117	T	0.019	0.03383	0.337	0.32654	0.130388298395	0.12655	0.14598170991795134	0.14520	0.0757698424566	0.08505	0.269181847572	0.06035	T	0.148063	0.48644	T	-0.462213	0.00952	T	-0.801083	0.01875	T	0.0571555953774738	0.06713	T	0.263374	0.04839	T	0.01753673	0.00281	0.024458949	0.00466	0.01753673	0.00281	0.024458949	0.00466	-3.348	0.14364	T	.	.	0.079	0.16143	B	.;.;.	.;.;.	-1.269141	0.00465	0.010	0.25531466869519609	0.01181	0.01024	0.03847	N	AEFBI	0.062436	0.12001	N	-1.37358184774086	0.02887	0.1281695	-1.47322740192701	0.02566	0.1182411	0.177775733794763	0.17828	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.42	-6.64	0.01635	-1.766000	0.01895	-2.713000	0.03439	-0.762000	0.03503	0.000000	0.06391	0.000000	0.08366	0.105000	0.18517	0.2248:0.1766:0.4202:0.1784	1.801	0.02886	804	0.43891	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	61.54	27	chr1	7933279	.	T	C	61.54	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.945;DP=161;ExcessHet=0;FS=6.767;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.24;ReadPosRankSum=0.448;SOR=2.812	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:43:.:.:0,43,738:.	6	0	1	0
chr1	7933282	7933282	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A559G:p.I187V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00270495129526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06147	T	0.002	0.09854	B	0.001	0.04355	B	0.030551	0.01722	N	2.226600	1	0.08975	N	0.22	0.09567	N	3.34	0.38883	T	-0.08	0.08187	N	0.064	0.03613	-0.9649	0.38230	T	0.008	0.02926	T	10	0.039113462	0.02377	T	0.002705	0.05550	T	0.009	0.00846	0.276	0.22845	0.0954503805726	0.09146	0.14244755294639133	0.14167	0.0755766024316	0.08479	0.303215026855	0.10881	T	0.091535	0.38816	T	-0.396887	0.02426	T	-0.807877	0.01713	T	0.0528059709509316	0.05985	T	0.343166	0.08297	T	0.014398486	0.00092	0.024658427	0.00489	0.014398486	0.00092	0.024658427	0.00489	-3.107	0.11376	T	.	.	0.082	0.20117	B	.;.;.	.;.;.	-2.656894	0.00022	0.001	0.31864493878579497	0.01817	0.00640	0.02800	N	AEFBI	0.053752	0.09712	N	-1.55403076293908	0.01511	0.06599016	-1.62642963533454	0.01502	0.06801238	0.1723792661722	0.17755	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	-6.6	0.01657	-4.246000	0.00304	-7.248000	0.01198	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.131000	0.19607	0.269:0.3775:0.1367:0.2167	1.562	0.02441	804	0.43891	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	78.9	22	chr1	7933282	.	T	C	78.9	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.728;DP=153;ExcessHet=0.3476;FS=37.363;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.46;ReadPosRankSum=1.9;SOR=5.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:25,10:35:19:.:.:19,0,395:.	4	0	2	1
chr1	7938763	7938763	C	T	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon3:c.G166A:p.A56T	.	431	1047	43	1	0	45	0.0210379	.	.	YES	246892	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.070	0.00393022335699	0.0030	0.00159744	0.0036	0.0005	0.0032	0	0.0008	0.0048	0.0044	0.0039	0.0035316	546	154602	rs9657963	0.0037	0.0038	0.0036	0.0039	0.0248	0.0036	0.0036	0.0215	0.0203	0.0007	0.0043	0.0115	2.519e-05	0.0011	0.0248	0.0037	0.0049	0.0042	0.0033	0.0033	0.0033	0.0033	0.0074	0.0031	0.0030	0.0063	0.0059	0.0006	0	0.0074	0.0130	0.0002	0.0005	0.0204	0.0040	0.0071	0.0035	1.0	0.00964	T	0.941	0.02685	T	0.001	0.07471	B	0.001	0.04355	B	0.320357	0.04070	N	1.492440	1	0.08975	N	-1.08	0.01032	N	3.34	0.06063	T	1.3	0.00948	N	0.032	0.00825	-0.9451	0.41797	T	0.009	0.03096	T	10	0.0033856928	0.00059	T	0.00393	0.09274	T	0.070	0.20419	.	.	0.12205267543	0.11705	0.49123176202066027	0.49044	0.0877038788788	0.09897	0.234466671944	0.02315	T	0.238459	0.60636	T	-0.763029	0.00014	T	-0.866481	0.00776	T	0.00133808490448402	0.00013	T	0.410359	0.10588	T	0.084032446	0.19431	0.08841771	0.20615	0.084032446	0.19431	0.08841771	0.20615	-2.519	0.05912	T	.	.	0.058	0.00705	B	.;.	.;.	0.541472	0.09098	5.884	0.1384294636572114	0.00286	0.00405	0.02019	N	AEFBI	0.033166	0.03882	N	-1.18175397809927	0.05276	0.2401307	-1.07042647388821	0.08287	0.4067902	0.631043940166331	0.21968	0.549168	0.22868	0	0.588066	0.40923	0	0.59043	0.30614	0	0.616125	0.45549	0	.	.	5.39	3.06	0.34374	1.348000	0.33592	-0.949000	0.06820	-0.835000	0.02838	0.445000	0.26527	0.000000	0.08366	0.005000	0.06747	0.0:0.2271:0.0:0.7729	6.163	0.19590	809	0.43032	TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|Tumour necrosis factor receptor 9, N-terminal;TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|Tumour necrosis factor receptor 9, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016113	0.005051	0.019022	0.032164	0.000000	0.017241	0.021341	0.003788	0.08333	709.27	26	chr1	7938763	.	C	T	709.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.189;DP=235;ExcessHet=0;FS=2.045;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.954;SOR=1.041	GT:AD:DP:GQ:PL	0/1:35,32:67:99:719,0,768	5	0	1	1
chr1	7970934	7970934	G	A	exonic	PARK7	.	nonsynonymous SNV	PARK7:NM_001123377:exon5:c.G293A:p.R98Q,PARK7:NM_007262:exon5:c.G293A:p.R98Q	Parkinson disease 7, autosomal recessive early-onset, Autosomal recessive	0	1458	62	2	0	66	0.0221328	.	.	.	448380	Autosomal_recessive_early-onset_Parkinson_disease_7|Renal_cysts_and_diabetes_syndrome|not_provided|PARK7-related_disorder|not_specified	MONDO:MONDO:0011658,MedGen:C1853445,OMIM:606324,Orphanet:2828|MONDO:MONDO:0007669,MedGen:C0431693,OMIM:137920,Orphanet:93111|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.202	.	0.0081	0.0061901	0.0081	0.0014	0.0058	0	0.0014	0.0105	0.0077	0.0114	0.0084216	1302	154602	rs71653619	0.0095	0.0095	0.0094	0.0097	0.0189	0.0094	0.0094	0.0160	0.0149	0.0016	0.0061	0.0111	0.0001	0.0013	0.0189	0.0104	0.0094	0.0122	0.0071	0.0071	0.0078	0.0065	0.0114	0.0068	0.0067	0.0107	0.0104	0.0019	0.0208	0.0066	0.0089	0	0.0008	0.0204	0.0114	0.0085	0.0108	0.509	0.07521	T	0.617	0.08594	T	0.005	0.12996	B	0.005	0.11217	B	0.000229	0.47286	N	0.235976	0.983594	0.26640	N	0.56	0.15190	N	-2.07	0.85943	D	-0.23	0.10656	N	0.4	0.44090	-0.8486	0.52065	T	0.232	0.59855	T	10	0.007415384	0.00169	T	.	.	.	0.202	0.48754	.	.	0.595664802742	0.59245	0.6617246050350262	0.66109	0.145711389982	0.16455	0.418447196484	0.27624	T	0.213762	0.57516	T	-0.348376	0.04830	T	-0.258914	0.48934	T	0.00210440679837054	0.00022	T	0.787021	0.44511	T	0.3051896	0.53366	0.11414655	0.27552	0.2824717	0.51284	0.118711516	0.28654	-6.663	0.51531	T	0.10339772836481027	0.07969	0.132	0.30739	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.429467	0.47660	22.5	0.71239704748064825	0.09562	0.94024	0.59884	D	AEFDBI	0.881393	0.80872	D	-0.622150246714128	0.18280	0.9477725	-0.4842833585006	0.22586	1.227488	0.99927417882496	0.38974	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.11	3.22	0.36041	5.372000	0.65909	8.567000	0.77590	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.222000	0.22517	0.1872:0.0:0.8128:0.0	8.669	0.33303	803	0.44167	DJ-1/PfpI;DJ-1/PfpI;DJ-1/PfpI;DJ-1/PfpI;DJ-1/PfpI;DJ-1/PfpI;DJ-1/PfpI	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015609	0.015152	0.013587	0.011696	0.050000	0.008621	0.018293	0.018939	0.07143	364.53	37	chr1	7970934	.	G	A	364.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.885;DP=204;ExcessHet=0;FS=3.949;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=-1.231;SOR=1.765	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1033	6	0	1	0
chr1	9040060	9040082	TTACCTTTCTTGGCGGCCGCTTC	-	exonic	SLC2A5	.	frameshift deletion	SLC2A5:NM_001328621:exon3:c.238_256del:p.E80Pfs*34,SLC2A5:NM_001328620:exon6:c.547_565del:p.E183Pfs*34,SLC2A5:NM_003039:exon6:c.679_697del:p.E227Pfs*34,SLC2A5:NM_001328619:exon7:c.679_697del:p.E227Pfs*34	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	74.18	25	chr1	9040059	.	GTTACCTTTCTTGGCGGCCGCTTC	G	74.18	.	AC=2;AF=0.143;AN=14;DP=190;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=24.88;SOR=0.693	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1082	6	1	0	0
chr1	9773313	9773313	G	C	exonic	CLSTN1	.	nonsynonymous SNV	CLSTN1:NM_001009566:exon2:c.C173G:p.P58R,CLSTN1:NM_001302883:exon2:c.C173G:p.P58R,CLSTN1:NM_014944:exon2:c.C173G:p.P58R	.	432	1085	3	2	0	7	0.00321543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.435	0.0834448211146	.	.	.	.	.	.	.	.	.	.	.	.	.	rs757749011	8.894e-06	8.893e-06	5.446e-06	1.238e-05	0.0001	4.96e-06	3.82e-06	6.247e-05	4.758e-05	0	0	0	0	0	0	1.799e-06	1.656e-05	0.0001	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.115	0.28702	L	0.76	0.49919	T	-5.06	0.82764	D	0.91	0.92317	-0.7597	0.57422	T	0.186	0.53586	T	10	0.8711057	0.86377	D	0.083445	0.74118	D	0.435	0.74022	0.486	0.56939	0.711621314016	0.70910	0.6264576467841481	0.62578	0.983164493924	0.73813	0.701933562756	0.67423	T	0.269585	0.64180	T	0.0727142	0.61178	D	0.103341	0.77129	D	0.891268730163574	0.54219	D	0.987451	0.95727	D	0.5231232	0.68439	0.42596167	0.66388	0.5231232	0.68440	0.42596167	0.66388	-9.527	0.73726	D	.	.	0.354	0.56825	A	.;.	.;.	4.668098	0.74577	26.2	0.99764958223972211	0.85417	0.98986	0.89571	D	AEFBI	0.896714	0.83807	D	0.433396756146388	0.63268	4.557317	0.407074471281462	0.62004	4.40893	0.999999999989681	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.59	5.59	0.84677	9.483000	0.96898	11.446000	0.92782	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.0:0.0:1.0:0.0	18.730	0.91695	635	0.64580	Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	36	chr1	9773313	.	G	C	33.22	.	AC=2;AF=0.143;AN=14;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1227	6	1	0	0
chr1	10105713	10105713	G	A	exonic	UBE4B	.	nonsynonymous SNV	UBE4B:NM_001105562:exon6:c.G778A:p.V260M,UBE4B:NM_006048:exon6:c.G778A:p.V260M	.	428	1068	26	0	0	26	0.0120259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0003	0.00459265	0.0026	0	0.0005	0	0.0002	0.0007	0.0022	0.0158	0.002348	363	154602	rs150442851	0.0013	0.0013	0.0008	0.0018	0.0156	0.0012	0.0012	0.0149	0.0146	0.0001	0.0002	0	5.038e-05	0.0009	0.0038	0.0003	0.0013	0.0156	0.0009	0.0009	0.0007	0.0012	0.0137	0.0008	0.0008	0.0110	0.0101	2.406e-05	0	0.0009	0.0003	0	0.0007	0	0.0008	0.0005	0.0137	0.217	0.21550	T	0.169	0.35330	T	0.396	0.34753	B	0.036	0.22909	B	0.577531	0.05516	N	1.238790	1	0.08975	N	0.695	0.17993	N	0.82	0.49358	T	-0.55	0.16799	N	0.125	0.11769	-1.0289	0.20811	T	0.046	0.19919	T	10	0.0032159984	0.00055	T	.	.	.	0.042	0.11227	.	.	0.364535869594	0.36064	0.270214646084552	0.26934	0.699871661359	0.61068	0.33072835207	0.15045	T	0.07218	0.34391	T	-0.600273	0.00145	T	-0.621402	0.11076	T	0.0335537133524029	0.02563	T	0.890711	0.62461	D	0.014283485	0.00087	0.036919747	0.03236	0.014283485	0.00087	0.036919747	0.03235	-3.19	0.17010	T	.	.	0.080	0.11558	B	.;.	.;.	0.715731	0.10848	7.525	0.90934577686081774	0.20183	0.18528	0.20297	N	AEFDBIJ	0.090501	0.18338	N	-1.4641409876063	0.02108	0.09273791	-1.53757122747371	0.02062	0.09431241	0.999999033061105	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	-9.99	0.00358	0.184000	0.16748	-1.783000	0.04734	-0.684000	0.04190	0.016000	0.19238	0.000000	0.08366	0.231000	0.22761	0.053:0.1543:0.1417:0.6511	9.457	0.37929	545	0.72614	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.007576	0.07143	941.44	33	chr1	10105713	.	G	A	941.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.52;DP=273;ExcessHet=0;FS=1.785;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=0.085;SOR=0.936	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1277	6	0	1	0
chr1	10326244	10326244	G	C	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671C:p.E891Q,KIF1B:NM_001365951:exon27:c.G2809C:p.E937Q,KIF1B:NM_001365952:exon27:c.G2809C:p.E937Q	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0482880192528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.37326	T	0.212	0.26549	T	0.989	0.62824	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-0.82	0.75001	T	-1.39	0.36787	N	0.734	0.75009	-0.1696	0.78438	T	0.498	0.81014	T	10	0.6018709	0.66958	D	0.048288	0.63305	D	0.290	0.60924	0.219	0.14078	0.749556767029	0.74729	0.6982153262634863	0.69762	1.23630627734	0.81476	0.814065039158	0.84115	D	0.345935	0.71426	T	0.119299	0.66301	D	-0.0664114	0.65882	T	0.84802782535553	0.49996	D	0.984102	0.94582	D	0.2858203	0.51601	0.27822828	0.53781	0.2858203	0.51601	0.27822828	0.53780	-10.724	0.78968	D	.	.	0.374	0.62311	A	.;.;.;.;.	.;.;.;.;.	5.279577	0.88650	29.7	0.99699751426161221	0.80522	0.99370	0.95141	D	AEFGBI	0.891753	0.82802	D	0.588017507858634	0.72425	5.803883	0.669916851634812	0.80102	7.224664	0.999999999999494	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.6	5.6	0.84997	9.602000	0.97623	11.794000	0.96459	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.620	0.95646	229	0.91079	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	4345.04	146	chr1	10326244	.	G	C	4345.04	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-6.673;DP=888;ExcessHet=2.5225;FS=260.179;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=6.37;ReadPosRankSum=1.09;SOR=10.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:145,49:212:99:.:.:1809,0,5088:.	3	0	4	0
chr1	10461512	10461512	C	T	exonic	DFFA	.	nonsynonymous SNV	DFFA:NM_004401:exon6:c.G974A:p.R325Q	.	430	1090	2	0	0	2	0.00091659	.	.	.	706524	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.178	.	0.0003	0.00559105	0.0028	0.0004	0.0015	0.0335	0	6.247e-05	0.0035	0.0010	0.0025549	395	154602	rs140269107	0.0014	0.0014	0.0014	0.0015	0.0426	0.0014	0.0014	0.0409	0.0403	0.0007	0.0014	0	0.0426	0	0.0005	5.486e-05	0.0029	0.0011	0.0017	0.0017	0.0016	0.0018	0.0320	0.0015	0.0014	0.0281	0.0265	0.0008	0	0.0019	0	0.0320	0	0	8.822e-05	0.0057	0.0019	0.0	0.91255	D	0.0	0.92824	D	0.206	0.29860	B	0.022	0.19653	B	0.031240	0.01733	N	2.302060	1	0.08975	N	2.395	0.69210	M	.	.	.	-1.19	0.30346	N	0.096	0.07673	-0.9838	0.34116	T	0.067	0.27640	T	9	0.0036945045	0.00068	T	.	.	.	0.178	0.44724	.	.	0.272639205421	0.26888	0.2001635971352172	0.19933	0.399156638136	0.40951	0.250007003546	0.03768	T	0.051237	0.28823	T	-0.446513	0.01184	T	-0.37014	0.36871	T	0.0793014743208084	0.09897	T	0.649735	0.26051	T	0.10762776	0.25449	0.12082042	0.29156	0.10762776	0.25449	0.12082042	0.29155	-5.444	0.41340	T	.	.	0.103	0.18580	B	.	.	2.769186	0.36341	20.2	0.99585259835191531	0.73277	0.79534	0.39430	D	AEFBI	0.099339	0.19998	N	-0.574104841890009	0.19733	1.035144	-0.598164920486375	0.19541	1.048877	0.111165312747871	0.16652	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.28	2.42	0.28720	2.316000	0.43421	1.428000	0.26422	-0.237000	0.07570	0.996000	0.39380	0.656000	0.25990	0.496000	0.28927	0.0:0.7712:0.0:0.2288	9.322	0.37130	344	0.85734	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	445.63	36	chr1	10461512	.	C	T	445.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.388;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-2.013;SOR=0.813	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	6	0	1	0
chr1	10463569	10463569	A	G	exonic	DFFA	.	nonsynonymous SNV	DFFA:NM_004401:exon4:c.T493C:p.C165R,DFFA:NM_213566:exon4:c.T493C:p.C165R	.	431	1073	18	0	0	18	0.00831793	.	.	.	695933	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.099	.	0.0090	0.00678914	0.0032	0.0241	0.0012	0	0	0.0018	0.0066	0.0001	0.0032535	503	154602	rs78046004	0.0018	0.0018	0.0019	0.0018	0.0268	0.0018	0.0018	0.0253	0.0248	0.0268	0.0023	0.0214	0	0	0.0203	0.0006	0.0048	0.0005	0.0082	0.0082	0.0083	0.0081	0.0246	0.0078	0.0076	0.0234	0.0229	0.0246	0	0.0050	0.0222	0	0	0.0238	0.0006	0.0076	0.0006	0.656	0.04757	T	0.449	0.13140	T	0.642	0.40549	P	0.185	0.36047	B	0.124039	0.18896	N	0.617378	0.99979	0.20372	N	2.19	0.61577	M	.	.	.	0.73	0.02195	N	0.154	0.19055	-1.0234	0.22606	T	0.020	0.08360	T	9	0.002888918	0.00046	T	.	.	.	0.099	0.28413	.	.	0.437850553699	0.43404	0.14632145510919561	0.14554	0.453488044029	0.45036	0.316828966141	0.12940	T	0.033314	0.22860	T	-0.547037	0.00304	T	-0.537608	0.18531	T	0.0197872182571099	0.00680	T	0.456654	0.13107	T	0.15799332	0.35569	0.1378226	0.32933	0.15799332	0.35569	0.1378226	0.32932	-0.217	0.00457	T	.	.	0.070	0.03625	B	.;.	.;.	0.531999	0.09008	5.789	0.68014326941382819	0.08528	0.04908	0.10658	N	AEFGBI	0.044949	0.07294	N	-0.727211795916347	0.15259	0.7674743	-0.82573053905089	0.13872	0.7219601	0.592141819624075	0.21655	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.09	-0.38	0.11868	0.656000	0.24632	-0.030000	0.12807	0.751000	0.87719	0.023000	0.19925	0.000000	0.08366	0.524000	0.29567	0.3656:0.1456:0.4888:0.0	6.631	0.22049	355	0.85216	DNA fragmentation factor 45kDa, middle domain|DNA fragmentation factor 45kDa, middle domain;DNA fragmentation factor 45kDa, middle domain|DNA fragmentation factor 45kDa, middle domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.025732	0.015152	0.028533	0.047059	0.000000	0.051724	0.009146	0.003788	0.08333	409.27	36	chr1	10463569	.	A	G	409.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.433;DP=199;ExcessHet=0;FS=1.204;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=2.2;SOR=0.484	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1174	5	0	1	1
chr1	10660197	10660197	G	A	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon6:c.C845T:p.T282M,CASZ1:NM_017766:exon6:c.C845T:p.T282M	.	422	1056	40	4	0	48	0.0222222	.	.	.	718055	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.058	.	0.0059	0.00519169	0.0082	0.0015	0.0026	0.0004	0.0067	0.0100	0.0056	0.0135	0.0074837	1157	154602	rs61736951	0.0072	0.0072	0.0068	0.0076	0.0191	0.0071	0.0071	0.0162	0.0151	0.0019	0.0034	0.0160	0.0007	0.0055	0.0191	0.0069	0.0080	0.0150	0.0056	0.0056	0.0051	0.0061	0.0129	0.0053	0.0051	0.0103	0.0094	0.0012	0.0022	0.0059	0.0159	0.0006	0.0047	0.0136	0.0075	0.0090	0.0129	0.189	0.21224	T	0.107	0.37730	T	0.994	0.66517	D	0.669	0.53077	P	0.190046	0.16871	N	0.601187	0.996524	0.22987	N	0.345	0.11182	N	.	.	.	-0.63	0.19720	N	0.255	0.38129	-1.0558	0.12829	T	0.073	0.29675	T	9	0.004262656	0.00085	T	.	.	.	0.058	0.16647	.	.	0.117191471859	0.11215	0.11922760581229094	0.11849	.	.	0.504599630833	0.39469	T	0.201332	0.55919	T	-0.471224	0.00835	T	-0.43798	0.29036	T	0.0267151649434157	0.01504	T	0.822018	0.48145	T	0.041268017	0.06047	0.05852582	0.10829	0.043633867	0.06834	0.05852582	0.10828	-4.584	0.32184	T	.	.	0.086	0.15475	B	.;.	.;.	3.062232	0.41128	21.3	0.99763478845760645	0.85254	0.87686	0.47309	D	AEFBI	0.337971	0.43559	N	0.187735215576894	0.50610	3.249349	0.183295668271457	0.48932	3.102669	0.999283082583387	0.39007	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.38	4.38	0.52019	4.139000	0.57788	6.578000	0.55988	0.618000	0.50648	0.976000	0.34826	1.000000	0.68203	0.214000	0.22296	0.0:0.161:0.839:0.0	13.121	0.58746	777	0.48198	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014602	0.010101	0.009511	0.011765	0.050000	0.017241	0.024390	0.018939	0.07143	545.53	43	chr1	10660197	.	G	A	545.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.11;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-0.512;SOR=0.616	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	6	0	1	0
chr1	11099794	11099794	G	A	exonic	EXOSC10	.	nonsynonymous SNV	EXOSC10:NM_001001998:exon1:c.C38T:p.S13L,EXOSC10:NM_002685:exon1:c.C38T:p.S13L	.	431	1085	6	0	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0119335358143	0.0016	0.000599042	0.0017	0.0006	0.0007	0	0.0002	0.0025	0	0.0017	0.0016041	248	154602	rs146839323	0.0019	0.0019	0.0019	0.0019	0.0022	0.0018	0.0018	0.0021	0.0021	9.027e-05	0.0008	0.0015	2.547e-05	0.0002	0.0017	0.0022	0.0017	0.0016	0.0015	0.0015	0.0016	0.0013	0.0025	0.0013	0.0012	0.0022	0.0021	0.0005	0	0.0006	0.0032	0.0002	9.418e-05	0	0.0025	0.0014	0.0008	0.12	0.27904	T	0.21	0.26714	T	0.001	0.07471	B	0.001	0.04355	B	0.219625	0.03444	N	1.493920	1	0.08975	N	1.59	0.40313	L	.	.	.	-1.47	0.35991	N	0.096	0.07673	-1.0225	0.22899	T	0.097	0.36367	T	9	0.0065403283	0.00148	T	0.011934	0.30037	T	0.091	0.26358	.	.	0.356281029322	0.35234	0.3942566468583189	0.39340	0.193807588903	0.21713	0.395592451096	0.24454	T	0.224022	0.58833	T	-0.58886	0.00170	T	-0.624181	0.10859	T	0.0158166298844185	0.00369	T	0.761124	0.38584	T	0.1003188	0.23686	0.12535316	0.30204	0.1003188	0.23685	0.12535316	0.30203	-4.688	0.33295	T	.	.	0.072	0.04080	B	.;.	.;.	2.410278	0.30976	18.60	0.98119365805184344	0.38424	0.04646	0.10316	N	ALL	0.065038	0.12662	N	-0.760321750476459	0.14354	0.7143493	-0.754411525755553	0.15614	0.822065	0.999999999996827	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.09	4.17	0.48303	1.457000	0.34822	2.794000	0.34813	0.597000	0.34315	0.053000	0.21524	0.166000	0.23302	0.001000	0.02609	0.0915:0.1662:0.7423:0.0	7.526	0.26822	502	0.75873	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	253.27	33	chr1	11099794	.	G	A	253.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.53;DP=196;ExcessHet=0;FS=1.58;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-0.682;SOR=0.625	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1134	5	0	1	1
chr1	11519395	11519395	C	T	exonic	DISP3	.	nonsynonymous SNV	DISP3:NM_020780:exon8:c.C1930T:p.P644S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.0567120109418	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1311858743	6.842e-07	6.84e-07	1.362e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	1.314e-05	1.313e-05	0	2.69e-05	4.826e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	0	0	0	0.368	0.11623	T	1.0	0.01155	T	0.002	0.09854	B	0.007	0.12992	B	0.790838	0.06711	N	1.085490	0.996539	0.22984	N	.	.	.	-2.46	0.88924	D	-0.73	0.20576	N	0.098	0.07949	-0.6242	0.63814	T	0.485	0.80350	T	10	0.09923577	0.17995	T	0.056712	0.66705	D	0.198	0.48105	0.464	0.53404	0.568643509186	0.56530	0.33847422116055503	0.33760	0.378204969424	0.39240	0.33758097887	0.16075	T	0.004639	0.04050	T	-0.109541	0.34844	T	-0.395125	0.33953	T	0.0333108817039525	0.02523	T	0.671533	0.28021	T	0.027146135	0.01866	0.0366615	0.03158	0.027146135	0.01866	0.0366615	0.03157	-4.655	0.32855	T	.	.	0.075	0.05404	B	.	.	1.700426	0.21659	15.29	0.98182418971041674	0.38958	0.58172	0.30571	D	AEFDBI	0.094285	0.19066	N	-0.383500522658516	0.26057	1.419167	-0.249503658525977	0.29789	1.671809	0.495878583240165	0.20902	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.52	2.25	0.27340	1.169000	0.31480	2.701000	0.34161	0.597000	0.34315	0.839000	0.30269	0.969000	0.29651	0.652000	0.32748	0.0:0.5148:0.2795:0.2057	4.838	0.12838	834	0.38640	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	917.44	33	chr1	11519395	.	C	T	917.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.049;DP=274;ExcessHet=0;FS=5.637;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-1.283;SOR=0.993	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	6	0	1	0
chr1	11655965	11655965	G	A	exonic	FBXO44	.	nonsynonymous SNV	FBXO44:NM_001304791:exon2:c.G130A:p.V44M,FBXO44:NM_001330355:exon2:c.G130A:p.V44M,FBXO44:NM_033182:exon2:c.G130A:p.V44M,FBXO44:NM_183412:exon2:c.G130A:p.V44M,FBXO44:NM_183413:exon2:c.G130A:p.V44M,FBXO44:NM_001014765:exon3:c.G130A:p.V44M,FBXO44:NM_001304790:exon3:c.G130A:p.V44M	.	427	1093	2	0	0	2	0.000914077	.	.	.	2726499	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.0220635085226	7.7e-05	0.000199681	0.0001	0	0	0	0	3.006e-05	0	0.0007	3.84e-05	1	26028	rs144060084	5.609e-05	5.678e-05	3.948e-05	7.288e-05	0.0007	4.61e-05	4.236e-05	0.0006	0.0005	0	0	0	0	0	0.0002	1.259e-05	6.623e-05	0.0007	4.597e-05	5.25e-05	5.14e-05	4.03e-05	0.0008	2.108e-05	1.526e-05	0.0003	0.0002	0	0	0	0	0	0	0	4.41e-05	0	0.0008	0.06	0.38407	T	0.083	0.44501	T	0.74	0.44271	P	0.142	0.37929	B	0.702830	0.10079	N	0.867347	1	0.08975	N	0.865	0.21413	L	1.98	0.21865	T	-1.25	0.31576	N	0.333	0.38541	-1.0467	0.15332	T	0.037	0.15813	T	10	0.02905795	0.01034	T	0.022064	0.44919	T	0.059	0.16972	.	.	0.224531998449	0.22054	0.35749166170748764	0.35663	0.999068856706	0.74351	0.476750552654	0.35610	T	0.023509	0.26287	T	-0.417895	0.01765	T	-0.473891	0.25098	T	0.088455264403639	0.11032	T	0.217978	0.03193	T	0.0924503	0.21689	0.12007287	0.28979	0.0924503	0.21689	0.12007287	0.28978	-8.901	0.67323	D	.	.	0.123	0.55250	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.718414	0.35549	19.93	0.99435184183904435	0.64472	0.08584	0.14493	N	AEFDGBI	0.088176	0.17876	N	-0.365322575505716	0.26714	1.460005	-0.375275248054592	0.25737	1.417164	0.999994255241562	0.74766	0.766844	0.99359	0	0.662677	0.63036	0	0.851219	0.99655	0	0.635551	0.53088	0	.	.	5.44	2.39	0.28492	0.254000	0.18084	3.924000	0.40490	0.654000	0.53741	0.001000	0.13787	0.998000	0.33993	0.995000	0.73285	0.1637:0.2699:0.5664:0.0	6.280	0.20209	878	0.29785	F-box domain|F-box domain|F-box domain;F-box domain|F-box domain|F-box domain;F-box domain|F-box domain|F-box domain;F-box domain|F-box domain|F-box domain;F-box domain|F-box domain|F-box domain;F-box domain|F-box domain|F-box domain;F-box domain|F-box domain|F-box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1108.49	34	chr1	11655965	.	G	A	1108.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.655;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.12;MQRankSum=-1.792;QD=16.54;ReadPosRankSum=-0.514;SOR=0.61	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1070	6	0	1	0
chr1	11655993	11655993	G	A	exonic	FBXO44	.	nonsynonymous SNV	FBXO44:NM_001304791:exon2:c.G158A:p.R53Q,FBXO44:NM_001330355:exon2:c.G158A:p.R53Q,FBXO44:NM_033182:exon2:c.G158A:p.R53Q,FBXO44:NM_183412:exon2:c.G158A:p.R53Q,FBXO44:NM_183413:exon2:c.G158A:p.R53Q,FBXO44:NM_001014765:exon3:c.G158A:p.R53Q,FBXO44:NM_001304790:exon3:c.G158A:p.R53Q	.	425	1095	2	0	0	2	0.000912409	.	.	.	2711830	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.154	0.0400570266362	7.7e-05	0.000199681	0.0001	0	0	0	0	3.002e-05	0	0.0007	9.7e-05	15	154602	rs140874551	5.746e-05	5.814e-05	3.948e-05	7.563e-05	0.0008	4.743e-05	4.366e-05	0.0006	0.0006	0	0	0	0	0	0.0002	1.259e-05	6.623e-05	0.0008	3.283e-05	3.281e-05	2.57e-05	4.028e-05	0.0008	1.26e-05	7.97e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	0.369	0.11586	T	0.243	0.28575	T	0.103	0.33059	B	0.01	0.23986	B	0.000012	0.62929	N	0.111045	0.667446	0.30394	N	1.615	0.41426	L	0.79	0.49068	T	-1.56	0.40468	N	0.343	0.50778	-0.9908	0.32398	T	0.087	0.33802	T	10	0.031497747	0.01285	T	0.040057	0.59162	D	0.154	0.40340	.	.	0.420939154896	0.41709	0.32883424915761894	0.32796	0.37739256135	0.39174	0.370560050011	0.20912	T	0.044817	0.31607	T	-0.384175	0.02931	T	-0.422024	0.30842	T	0.0693139058332282	0.08554	T	0.878912	0.59457	D	0.13540116	0.31426	0.10224877	0.24501	0.13540116	0.31426	0.10224877	0.24501	-5.95	0.45859	T	.	.	0.074	0.10545	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.575425	0.33383	19.32	0.97789911054043566	0.35989	0.84353	0.43435	D	AEFDGBI	0.165314	0.29180	N	-0.610389902058304	0.18632	0.9688509	-0.514090465673906	0.21770	1.179284	0.999992329906474	0.74766	0.766844	0.99359	0	0.662677	0.63036	0	0.851219	0.99655	0	0.714379	0.83352	0	.	.	5.45	3.53	0.39533	2.599000	0.45895	0.900000	0.22542	-0.173000	0.11020	0.998000	0.41325	0.035000	0.21413	0.889000	0.42754	0.1551:0.0:0.705:0.1399	7.127	0.24654	878	0.29785	F-box domain;F-box domain;F-box domain;F-box domain;F-box domain;F-box domain;F-box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	922.83	34	chr1	11655993	.	G	A	922.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.082;DP=236;ExcessHet=0;FS=2.127;MLEAC=1;MLEAF=0.071;MQ=57.68;MQRankSum=-2.371;QD=14.88;ReadPosRankSum=2.26;SOR=0.558	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1070	6	0	1	0
chr1	11706436	11706436	C	T	exonic	DRAXIN	.	nonsynonymous SNV	DRAXIN:NM_198545:exon2:c.C178T:p.R60W	.	409	1100	12	1	0	14	0.0063234	.	.	.	2805715	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.095	0.0534251646526	0.0034	0.00139776	0.0041	0.0010	0.0017	0	0.0011	0.0058	0.0077	0.0040	0.0037645	582	154602	rs202026446	0.0048	0.0048	0.0047	0.0050	0.0055	0.0048	0.0047	0.0054	0.0053	0.0009	0.0023	0.0069	5.042e-05	0.0010	0.0044	0.0055	0.0039	0.0041	0.0045	0.0045	0.0046	0.0044	0.0056	0.0042	0.0041	0.0051	0.0049	0.0011	0.1872	0.0017	0.0066	0	0.0011	0.0034	0.0056	0.0019	0.0054	0.007	0.59928	D	0.011	0.64786	D	1.0	0.90584	D	0.996	0.84481	D	0.011499	0.29512	N	0.286982	0.605701	0.32577	D	2.28	0.64929	M	0.86	0.46777	T	-3.5	0.68178	D	0.293	0.33140	-0.3685	0.73007	T	0.253	0.62337	T	10	0.0045908093	0.00096	T	0.053425	0.65463	D	0.095	0.27398	.	.	0.494098832713	0.49043	0.3163542767173148	0.31548	0.819352312627	0.67090	0.350747287273	0.18032	T	0.321407	0.69251	T	-0.408736	0.02027	T	-0.357979	0.38285	T	0.0251006353209914	0.01286	T	0.855914	0.54393	D	0.15999727	0.35911	0.110200934	0.26570	0.15999727	0.35911	0.110200934	0.26569	-5.73	0.43959	T	.	.	0.107	0.20038	B	.	.	3.521114	0.49360	22.8	0.99902437920298948	0.97426	0.86999	0.46410	D	AEFDBI	0.299693	0.40868	N	0.269223694020598	0.54597	3.624792	0.164051533808	0.47890	3.012659	0.998897943115593	0.37915	0.643511	0.44296	0	0.59043	0.45803	0	0.688494	0.62686	0	0.542086	0.14980	0	.	.	4.75	3.82	0.43153	2.003000	0.40464	0.750000	0.21229	0.549000	0.26987	0.995000	0.38783	0.053000	0.21875	0.073000	0.16832	0.1781:0.8218:0.0:0.0	11.595	0.50224	874	0.30607	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004036	0.005155	0.002717	0.002941	0.050000	0.000000	0.012195	0.003788	0.07143	323.63	12	chr1	11706436	.	C	T	323.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.966;DP=174;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.89;ReadPosRankSum=-0.401;SOR=0.853	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1105	6	0	1	0
chr1	11858322	11858322	C	A	exonic	NPPB	.	nonsynonymous SNV	NPPB:NM_002521:exon2:c.G280T:p.V94F	.	400	1113	9	0	0	9	0.00402685	.	.	.	706622	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.118	.	0.0022	0.00239617	0.0028	0.0007	0.0012	0	0.0112	0.0033	0.0056	0.0013	0.002652	410	154602	rs35640285	0.0029	0.0029	0.0029	0.0028	0.0033	0.0028	0.0028	0.0025	0.0024	0.0004	0.0022	0.0072	0.0003	0.0127	0.0033	0.0026	0.0031	0.0016	0.0032	0.0032	0.0026	0.0039	0.0033	0.0030	0.0029	0.0026	0.0025	0.0007	0.0011	0.0033	0.0084	0.0004	0.0158	0	0.0029	0.0024	0.0015	0.248	0.17239	T	0.376	0.16182	T	0.868	0.47740	P	0.325	0.41883	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	2.02	0.21119	T	-0.92	0.24676	N	0.229	0.25745	-1.1390	0.01396	T	0.002	0.00738	T	9	0.0061655045	0.00139	T	.	.	.	0.118	0.32913	.	.	0.168933306366	0.16529	0.12861812929695868	0.12786	0.687711552837	0.60394	0.324313998222	0.14075	T	0.110788	0.42575	T	-0.596953	0.00152	T	-0.63268	0.10213	T	0.0108581134624478	0.00155	T	0.336666	0.07200	T	0.05751787	0.11456	0.09384534	0.22185	0.05751787	0.11456	0.09384534	0.22185	-3.528	0.16826	T	.	.	0.105	0.19073	B	.	.	-0.169070	0.03252	0.551	0.97715508139197937	0.35525	0.02593	0.07155	N	AEFBCI	0.278746	0.39296	N	-1.38753890119288	0.02754	0.1220611	-1.63603470162765	0.01450	0.0655785	0.999898732684697	0.45129	0.764865	0.99124	0	0.563428	0.19063	0	0.731555	0.93304	0	0.530356	0.10902	0	.	.	3.85	-7.14	0.01374	-4.279000	0.00297	-2.623000	0.03537	-1.800000	0.00625	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2898:0.1154:0.5948	8.255	0.30912	574	0.70151	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.005051	0.002717	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	361.45	34	chr1	11858322	.	C	A	361.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.003;DP=219;ExcessHet=0;FS=4.803;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=-2.409;SOR=0.681	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1194	6	0	1	0
chr1	11922898	11922898	G	A	exonic	KIAA2013	.	nonsynonymous SNV	KIAA2013:NM_138346:exon2:c.C1625T:p.T542I	.	426	1088	8	0	0	8	0.003663	.	.	.	2805719	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.070	0.00285916216767	0.0042	0.00179712	0.0041	0.0019	0.0035	0	0.0005	0.0055	0.0014	0.0033	0.0006274	97	154602	rs35073764	0.0062	0.0062	0.0063	0.0061	0.0073	0.0061	0.0060	0.0072	0.0071	0.0010	0.0024	0.0032	2.522e-05	0.0014	0.0016	0.0073	0.0052	0.0033	0.0041	0.0041	0.0042	0.0039	0.0068	0.0038	0.0037	0.0063	0.0061	0.0017	0	0.0033	0.0020	0	0.0008	0	0.0068	0.0038	0.0027	0.348	0.13971	T	0.121	0.36901	T	0.195	0.29512	B	0.065	0.27321	B	0.001268	0.39594	N	0.249272	0.992258	0.41596	D	1.67	0.42885	L	.	.	.	-2.32	0.51478	N	0.182	0.19728	-1.0817	0.07022	T	0.066	0.27364	T	9	0.010512382	0.00233	T	0.002859	0.06015	T	0.070	0.20419	.	.	0.110078149338	0.10416	0.7210633728408705	0.72049	.	.	0.547558784485	0.45513	T	0.010214	0.09245	T	-0.500474	0.00568	T	-0.479996	0.24445	T	0.00781692220711704	0.00092	T	0.863014	0.55864	D	0.04122817	0.06034	0.07634458	0.16900	0.04122817	0.06033	0.07634458	0.16900	-5.409	0.41006	T	.	.	0.075	0.07793	B	.;.;.	.;.;.	2.009693	0.25536	16.80	0.98284403757157512	0.39889	0.94406	0.61064	D	AEFDGBI	0.308772	0.41526	N	-0.245005774461428	0.31302	1.753889	-0.0923052406574394	0.35707	2.069022	0.999998753566587	0.74766	0.706548	0.73137	0	0.685571	0.66316	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	2.94	0.33188	2.892000	0.48323	2.544000	0.33230	0.676000	0.76740	0.999000	0.42656	0.999000	0.35428	0.974000	0.55675	0.2907:0.0:0.7093:0.0	8.609	0.32955	764	0.49969	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001656	0.000000	0.001366	0.000000	0.000000	0.000000	0.003268	0.003968	0.07143	908.63	23	chr1	11922898	.	G	A	908.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.225;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=38.86;MQRankSum=-1.887;QD=11.65;ReadPosRankSum=-0.315;SOR=0.61	GT:AD:DP:GQ:PL	0/1:40,38:78:99:919,0,1118	6	0	1	0
chr1	12063648	12063648	G	A	exonic	TNFRSF8	.	nonsynonymous SNV	TNFRSF8:NM_001243:exon1:c.G50A:p.R17Q	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00426251772585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.772	0.03363	T	0.505	0.11004	T	0.012	0.16265	B	0.002	0.06944	B	0.025751	0.01636	N	2.494840	1	0.20609	N	-1.245	0.00777	N	1.8	0.25344	T	0.13	0.05503	N	0.031	0.00770	-1.0228	0.22802	T	0.024	0.10058	T	10	0.028710008	0.01001	T	0.004263	0.10310	T	0.024	0.04979	0.399	0.42753	0.102598925029	0.09809	0.24661527940891856	0.24575	0.235134821444	0.26041	0.435458242893	0.29956	T	0.128451	0.45611	T	-0.369009	0.03645	T	-0.767832	0.02840	T	0.333319544792175	0.26358	T	0.436356	0.11970	T	0.030014744	0.02593	0.069466	0.14641	0.030014744	0.02593	0.069466	0.14641	-3.73	0.19761	T	.	.	0.109	0.20972	B	.	.	0.537364	0.09061	5.843	0.93833585977029044	0.23823	0.02051	0.06129	N	AEFDGBHCI	0.036245	0.04799	N	-1.45405952172746	0.02185	0.09620422	-1.43616055646306	0.02897	0.1341662	0.999999999995715	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.530356	0.10902	0	.	.	3.03	-1.07	0.09459	-0.436000	0.06992	-0.227000	0.10711	-0.992000	0.01845	0.004000	0.16614	0.000000	0.08366	0.133000	0.19684	0.5421:0.0:0.4579:0.0	6.218	0.19875	656	0.62345	Tumour necrosis factor receptor 8, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	24	chr1	12063648	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1105	6	1	0	0
chr1	12261930	12261930	G	T	exonic	VPS13D	.	nonsynonymous SNV	VPS13D:NM_015378:exon13:c.G1444T:p.D482Y,VPS13D:NM_018156:exon13:c.G1444T:p.D482Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.512	0.00362683110702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.998	0.92359	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.36	0.67893	M	.	.	.	.	.	.	0.805	0.82257	-0.5244	0.67752	T	0.281	0.65250	T	10	0.77721727	0.77557	D	0.003627	0.08340	T	.	.	0.458	0.52427	0.158540857583	0.15491	0.8051392701897068	0.80468	.	.	0.569984793663	0.48675	T	0.653828	0.89528	D	0.263212	0.79825	D	0.14031	0.79564	D	0.988545256578095	0.78862	D	0.927007	0.73102	D	0.9274849	0.93985	0.8237988	0.89783	0.9274849	0.93985	0.8237988	0.89783	-5.742	0.44066	T	0.8031614704474634	0.87950	0.301	0.53032	B	.;.	.;.	4.719171	0.75895	26.4	0.99513019279412096	0.68739	0.99589	0.97750	D	AEFBI	0.844195	0.76117	D	0.894273664347723	0.91475	10.90315	0.873349369367309	0.94303	12.657	0.999999999977384	0.74766	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.49	5.49	0.81022	9.116000	0.93665	10.000000	0.83036	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	18.364	0.90327	851	0.35303	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr1	12261930	.	G	T	33.22	.	AC=2;AF=0.143;AN=14;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1333	6	1	0	0
chr1	12277610	12277610	C	T	exonic	VPS13D	.	nonsynonymous SNV	VPS13D:NM_015378:exon19:c.C4022T:p.S1341L,VPS13D:NM_018156:exon19:c.C4022T:p.S1341L	.	436	1073	13	0	0	13	0.00602131	.	.	.	984048	VPS13D-related_disorder|not_provided|Autosomal_recessive_cerebellar_ataxia-saccadic_intrusion_syndrome	.|MedGen:C3661900|MONDO:MONDO:0011811,MedGen:C1846492,OMIM:607317,Orphanet:95434	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.169	0.00288129989674	0.0039	0.00119808	0.0027	0.0008	0.0006	0	0	0.0043	0.0033	0.0014	0.0027361	423	154602	rs12407578	0.0040	0.0040	0.0039	0.0041	0.0055	0.0039	0.0039	0.0047	0.0046	0.0006	0.0016	0.0009	0	9.403e-05	0.0055	0.0048	0.0037	0.0017	0.0027	0.0027	0.0031	0.0023	0.0048	0.0025	0.0024	0.0043	0.0042	0.0010	0	0.0021	0.0009	0	0.0002	0.0034	0.0048	0.0028	0.0015	.	.	.	0.014	0.62352	D	0.964	0.90584	D	0.306	0.84481	B	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	1.79	0.46772	L	.	.	.	.	.	.	0.827	0.82257	-0.7437	0.58262	T	0.207	0.56567	T	10	0.011992276	0.00260	T	0.002881	0.06074	T	.	.	.	.	0.117191471859	0.11215	0.6071695365548392	0.60648	.	.	0.706907629967	0.68145	T	0.584668	0.86453	D	-0.0181384	0.49119	T	0.20226	0.83253	D	0.0223151866866301	0.00944	T	0.944006	0.80662	D	0.43740696	0.63234	0.34600848	0.60275	0.475272	0.65613	0.49095947	0.70552	-6.199	0.47915	T	0.2813359230021587	0.37670	0.183	0.39731	B	.;.	.;.	4.567031	0.72027	25.8	0.99906592428517771	0.97726	0.98747	0.86334	D	AEFBI	0.623041	0.60713	D	0.534153202795129	0.69124	5.312616	0.59383377871949	0.74495	6.147002	0.999999999989951	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.91	5.91	0.95240	5.787000	0.68662	6.020000	0.52779	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.846000	0.39970	0.0:1.0:0.0:0.0	20.299	0.98594	697	0.58201	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.002717	0.014620	0.000000	0.000000	0.012195	0.000000	0.07143	1709.44	39	chr1	12277610	.	C	T	1709.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.75;DP=327;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-1.243;SOR=0.665	GT:AD:DP:GQ:PL	0/1:77,65:142:99:1720,0,1838	6	0	1	0
chr1	12794855	12794855	C	T	exonic	PRAMEF1	.	nonsynonymous SNV	PRAMEF1:NM_001294139:exon1:c.C17T:p.A6V	.	583	936	3	0	0	3	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000192598857912	.	.	0.0008	0	0	0	0	0.0009	0	0.0027	0.0009989	26	26028	rs200225858	0.0004	0.0012	0.0004	0.0005	0.0032	0.0004	0.0004	0.0025	0.0022	7.644e-05	0.0008	0.0001	0.0032	0.0005	0.0020	0.0003	0.0007	0.0010	0.0004	0.0007	0.0004	0.0004	0.0015	0.0003	0.0003	0.0007	0.0005	0.0001	0	0.0007	0	0.0006	0.0004	0.0069	0.0004	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	99.53	27	chr1	12794855	.	C	T	99.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.11;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=42.06;MQRankSum=-0.926;QD=2.76;ReadPosRankSum=0.234;SOR=0.833	GT:AD:DP:GQ:PL	0/1:30,6:36:99:110,0,842	6	0	1	0
chr1	12795956	12795956	C	G	exonic	PRAMEF1	.	stopgain	PRAMEF1:NM_001294139:exon2:c.C650G:p.S217X,PRAMEF1:NM_023013:exon4:c.C1385G:p.S462X	.	498	1004	20	0	0	20	0.00986193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0741	0.1441	0.0446	0.0608	0.0460	0.0744	0.0531	0.0748	0.0596887	9228	154602	rs146835774	9.623e-06	0.0009	1.094e-05	8.291e-06	0.0001	5.58e-06	4.37e-06	4.132e-05	2.406e-05	0.0001	0	3.866e-05	5.083e-05	0	0	2.704e-06	0	4.68e-05	2.678e-05	0.0006	3.924e-05	1.371e-05	9.956e-05	8.26e-06	5.22e-06	3.32e-05	1.962e-05	9.956e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.00162	N	24.303600	0.999992	0.18878	N	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210551	0.74881	D	0.0646661	0.74555	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	5.501798	0.91592	32	0.73367442354752288	0.10302	0.00217	0.01229	N	AEFBI	0.023606	0.01340	N	-0.126384344249431	0.36245	2.092528	-0.597625226207845	0.19555	1.049693	8.12789459538178E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.682	-0.482	0.11476	-0.019000	0.12487	-3.480000	0.02754	-1.024000	0.01719	0.077000	0.22263	0.000000	0.08366	0.000000	0.00833	.	.	.	888	0.27761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.134703	0.180000	0.168033	0.118644	0.125000	0.129310	0.087413	0.088000	0.07143	30.44	44	chr1	12795956	.	C	G	30.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.745;DP=340;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=42.1;MQRankSum=-4.023;QD=0.35;ReadPosRankSum=-2.035;SOR=0.676	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,8:87:41:0|1:12795956_C_G:41,0,3180:12795956	6	0	1	0
chr1	12879689	12879689	C	T	exonic	PRAMEF4	.	nonsynonymous SNV	PRAMEF4:NM_001009611:exon4:c.G1292A:p.S431N	.	.	.	.	.	.	.	.	.	.	.	2356868	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.000862340327512	.	.	9.409e-05	0.0001	0.0003	0.0001	0	7.771e-05	0	6.109e-05	0.0008452	22	26028	rs76993476	2.889e-05	6.717e-05	3.148e-05	2.627e-05	0.0003	2.163e-05	1.918e-05	0.0001	0.0001	0	0.0003	0.0003	7.589e-05	0	0	1.444e-05	5.004e-05	0	6.087e-05	0.0001	5.27e-05	6.95e-05	0.0002	3.159e-05	2.369e-05	4.95e-06	1.85e-06	0	0	0	0.0012	0	0	0	2.982e-05	0.0010	0.0002	0.188	0.21304	T	0.364	0.16766	T	0.554	0.38213	P	0.234	0.38393	B	0.052209	0.02034	N	2.012350	1	0.08975	N	1.85	0.49092	L	2.68	0.12371	T	-0.72	0.20358	N	0.056	0.02759	-1.0344	0.19046	T	0.026	0.11131	T	10	0.08628282	0.14650	T	8.62E-4	0.00755	T	0.027	0.05988	.	.	0.0611884634855	0.05136	0.08928834406147412	0.08861	1.49514861928	0.86947	0.665681421757	0.62221	T	0.00364	0.03050	T	-0.317267	0.07125	T	-0.693508	0.06189	T	0.00827460199046886	0.00099	T	.	.	.	0.0330104	0.03435	0.07514117	0.16512	0.0330104	0.03435	0.07514117	0.16511	-2.083	0.03512	T	.	.	0.081	0.08272	B	.	.	1.093112	0.14769	11.31	0.83550136710279943	0.14787	0.00164	0.00976	N	AEFI	0.018662	0.00583	N	-1.09459554305759	0.06742	0.3112346	-1.2632279311592	0.04937	0.234126	1.18647913859287E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.48	-0.645	0.10899	0.291000	0.18748	-20.000000	0.00162	-0.395000	0.05324	0.007000	0.17678	0.000000	0.08366	0.001000	0.02609	0.0:0.4932:0.0:0.5068	3.917	0.08726	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001174	0.000000	0.002747	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	248.44	34	chr1	12879689	.	C	T	248.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.534;DP=509;ExcessHet=0;FS=40.181;MLEAC=1;MLEAF=0.071;MQ=51.34;MQRankSum=-8.641;QD=0.78;ReadPosRankSum=2.98;SOR=1.808	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1505	6	0	1	0
chr1	12893382	12893382	C	T	exonic	PRAMEF10	.	nonsynonymous SNV	PRAMEF10:NM_001039361:exon4:c.G959A:p.S320N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00097296239023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.855e-07	6.841e-07	1.364e-06	0	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.303	0.20164	T	0.404	0.34945	B	0.268	0.39801	B	0.404322	0.13082	N	0.740466	1	0.08975	N	2.43	0.70455	M	2.94	0.09728	T	-1.85	0.43334	N	0.11	0.09631	-1.0131	0.25943	T	0.030	0.13067	T	10	0.09677926	0.17384	T	9.73E-4	0.01003	T	0.024	0.04979	0.379	0.39482	0.043077524339	0.03247	0.1385837449518486	0.13781	.	.	0.547900915146	0.45561	T	0.013209	0.11466	T	-0.401472	0.02265	T	-0.814463	0.01567	T	0.316760897636414	0.25690	T	.	.	.	0.02063687	0.00629	0.04760471	0.06894	0.02063687	0.00629	0.04760471	0.06894	-4.383	0.29326	T	.	.	0.145	0.31882	B	.	.	0.539908	0.09088	5.868	0.92602036304499291	0.22065	0.00100	0.00648	N	AEFI	0.018087	0.00522	N	-0.799898519085951	0.13313	0.654942	-0.991859272730351	0.09967	0.4990798	1.55201295648864E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.92	-1.5	0.08233	-1.383000	0.02650	-14.808000	0.00386	0.235000	0.18186	0.000000	0.06391	0.000000	0.08366	0.211000	0.22211	0.0:0.3492:0.2776:0.3731	2.507	0.04364	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1814.44	81	chr1	12893382	.	C	T	1814.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.41;DP=676;ExcessHet=0;FS=0.484;MLEAC=1;MLEAF=0.071;MQ=54.66;MQRankSum=0.748;QD=6.75;ReadPosRankSum=-0.692;SOR=0.762	GT:AD:DP:GQ:PL	0/0:81,0:81:99:0,120,1800	6	0	1	0
chr1	12894881	12894881	G	T	exonic	PRAMEF10	.	nonsynonymous SNV	PRAMEF10:NM_001039361:exon3:c.C571A:p.P191T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.000967886536308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.854e-07	4.144e-06	1.793e-06	0	2.634e-05	0	0	.	.	0	0	0	2.634e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.009	0.66756	D	0.878	0.48285	P	0.546	0.49068	P	0.564230	0.11305	N	0.794271	1	0.08975	N	2.03	0.55503	M	5.54	0.00885	T	-4.46	0.77798	D	0.204	0.22614	-0.9189	0.45702	T	0.005	0.01761	T	10	0.18503779	0.33907	T	9.68E-4	0.01003	T	0.031	0.07369	0.503	0.59615	0.043077524339	0.03247	0.17729716622682443	0.17648	.	.	0.630800366402	0.57258	T	0.107474	0.41971	T	-0.239668	0.15392	T	-0.582043	0.14363	T	0.775861978530884	0.44795	D	.	.	.	0.027398432	0.01926	0.03103668	0.01638	0.027398432	0.01925	0.03103668	0.01638	-4.606	0.32247	T	.	.	0.147	0.32469	B	.	.	1.074782	0.14573	11.14	0.92999796800243373	0.22589	0.00777	0.03195	N	AEFI	0.020692	0.00842	N	-0.832687795582111	0.12480	0.6085982	-1.06909324971105	0.08314	0.4082409	1.0969610631889E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.07	0.122	0.14005	-0.179000	0.09761	-20.000000	0.00162	0.322000	0.19397	0.000000	0.06391	0.000000	0.08366	0.035000	0.13729	0.357:0.0:0.643:0.0	4.422	0.10912	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	634.53	37	chr1	12894881	.	G	T	634.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.482;DP=203;ExcessHet=0;FS=3.074;MLEAC=1;MLEAF=0.071;MQ=29.46;MQRankSum=-0.835;QD=13.79;ReadPosRankSum=-0.949;SOR=0.124	GT:AD:DP:GQ:PL	0/1:21,25:46:99:645,0,551	6	0	1	0
chr1	13049870	13049870	T	A	exonic	PRAMEF27	.	nonsynonymous SNV	PRAMEF27:NM_001300891:exon4:c.A1375T:p.N459Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	.	4.964e-05	9.692e-05	0	0	0	0	0	0.0003	0.0002305	6	26028	.	3.592e-05	0.0001	2.736e-05	4.458e-05	0.0003	2.768e-05	2.481e-05	0.0002	0.0001	0.0001	0	4.166e-05	5.868e-05	0	0	2.156e-05	3.75e-05	0.0003	9.291e-06	5.01e-05	1.805e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.095	0.07535	-1.0527	0.13655	T	0.064	0.26527	T	6	0.04685524	0.03928	T	.	.	.	0.014	0.01968	.	.	0.176091768786	0.17195	0.1967050569138952	0.19587	.	.	.	.	.	0.001229	0.00717	T	-0.350458	0.04699	T	-0.741185	0.03841	T	0.0456390774424677	0.04719	T	.	.	.	0.019250799	0.00453	0.040164918	0.04279	0.019250799	0.00453	0.040164918	0.04279	-3.243	0.13013	T	.	.	0.043	0.00027	B	.	.	0.242944	0.06227	2.682	0.41728806564319604	0.03029	0.00057	0.00426	N	AEFI	0.012691	0.00145	N	-1.5239705724697	0.01693	0.07409056	-1.75963068880506	0.00897	0.04012837	8.07842788249064E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-0.220000	0.09220	-15.477000	0.00355	-0.600000	0.04616	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.4341:0.1749:0.2152:0.1758	0.722	0.00882	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	792.84	33	chr1	13049870	.	T	A	792.84	.	AC=2;AF=0.2;AN=10;DP=130;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=32.83;QD=33.24;SOR=4.407	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	4	1	0	2
chr1	13049875	13049875	A	G	exonic	PRAMEF27	.	nonsynonymous SNV	PRAMEF27:NM_001300891:exon4:c.T1370C:p.I457T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	.	.	4.962e-05	9.682e-05	0	0	0	0	0	0.0003	3.84e-05	1	26028	.	6.803e-05	0.0001	4.56e-05	9.071e-05	0.0006	5.618e-05	5.219e-05	0.0004	0.0004	0.0002	5.074e-05	4.167e-05	0.0001	0	0	3.529e-05	3.751e-05	0.0006	9.238e-06	6.68e-05	1.797e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	0.981	0.02417	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.07	0.04307	-1.0055	0.28307	T	0.032	0.13767	T	6	0.060101748	0.07328	T	.	.	.	0.060	0.17295	.	.	0.0297737177859	0.01360	0.32314729391047886	0.32227	.	.	.	.	.	0.004221	0.03630	T	-0.393477	0.02554	T	-0.802979	0.01829	T	0.0513792235589206	0.05741	T	.	.	.	0.022960458	0.00997	0.046127893	0.06359	0.022960458	0.00996	0.046127893	0.06359	-1.411	0.01591	T	.	.	0.044	0.00040	B	.	.	-0.439474	0.02069	0.191	0.50756652927482537	0.04440	0.00004	0.00092	N	AEFI	0.010657	0.00080	N	-1.12740195868905	0.06160	0.2828157	-1.31428877448842	0.04245	0.1998044	1.1618920056864E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	0.388	0.15489	-0.927000	0.04092	-11.787000	0.00575	-0.638000	0.04459	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2075:0.0:0.4897:0.3028	2.141	0.03545	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	1124.84	33	chr1	13049875	.	A	G	1124.84	.	AC=2;AF=0.2;AN=10;DP=139;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=32.42;QD=33.86;SOR=4.332	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	4	1	0	2
chr1	13049883	13049883	A	C	exonic	PRAMEF27	.	nonsynonymous SNV	PRAMEF27:NM_001300891:exon4:c.T1362G:p.F454L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	.	0.00119808	0.0006	0.0033	0.0004	0.0022	0.0002	0.0002	0	0.0003	0.000461	12	26028	rs1394611558	0.0001	0.0002	0.0001	0.0002	0.0008	0.0001	0.0001	0.0006	0.0005	0.0005	7.611e-05	0	8.804e-05	1.989e-05	0	9.902e-05	3.752e-05	0.0008	0.0001	0.0002	0.0001	7.555e-05	0.0003	6.263e-05	4.927e-05	9.396e-05	5.601e-05	0.0003	0	8.26e-05	0	0	0	0	0.0001	0	0	.	.	.	0.362	0.16865	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.049	0.02088	-1.0511	0.14092	T	0.037	0.15770	T	6	0.007304162	0.00166	T	.	.	.	0.026	0.05648	.	.	0.0138822411134	0.00435	0.3071909890723261	0.30632	.	.	.	.	.	0.032979	0.22720	T	-0.411575	0.01940	T	-0.828975	0.01280	T	0.00439892827759842	0.00047	T	.	.	.	0.038286895	0.05073	0.049255114	0.07489	0.038286895	0.05073	0.049255114	0.07489	-3.673	0.18920	T	.	.	0.267	0.50157	B	.	.	0.277747	0.06548	3.034	0.59263002692154654	0.06183	0.00004	0.00092	N	AEFI	0.014546	0.00236	N	-1.68379074353803	0.00901	0.03898476	-1.90980006477675	0.00468	0.02073268	0.0019344774255762	0.09019	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-0.914000	0.04146	-12.701000	0.00506	-0.755000	0.03551	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.5082:0.2068:0.0:0.2851	3.178	0.06181	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	1443.84	33	chr1	13049883	.	A	C	1443.84	.	AC=2;AF=0.2;AN=10;DP=156;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=33.9;QD=28.28;SOR=3.855	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	4	1	0	2
chr1	13176617	13176617	A	G	exonic	PRAMEF27;PRAMEF9	.	nonsynonymous SNV	PRAMEF9:NM_001010890:exon2:c.A670G:p.T224A,PRAMEF27:NM_001300891:exon3:c.A670G:p.T224A	.	924	594	0	4	0	8	0.00668896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1266159912	0.0003	0.0003	0.0004	0.0003	0.0018	0.0003	0.0003	0.0005	0.0003	8.008e-05	0.0005	0	0	0	0.0018	0.0004	0.0008	0.0002	8.698e-05	0.0002	0	0.0002	0.0002	1.539e-05	6.38e-06	4.125e-05	1.627e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00339	.	.	.	.	.	.	.	0.05650094	0.06342	T	.	.	.	.	.	.	.	.	.	0.1880957504432965	0.18727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04847	B	.	.	-0.762055	0.01184	0.057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.247000	0.08884	-4.025000	0.02386	-1.541000	0.00979	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	119.5	4	chr1	13176617	.	A	G	119.5	.	AC=2;AF=0.167;AN=12;DP=54;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=22.8;QD=23.9;SOR=3.611	GT:AD:DP:GQ:PL	0/0:19,0:19:57:0,57,765	5	1	0	1
chr1	13176756	13176756	A	G	exonic	PRAMEF27;PRAMEF9	.	nonsynonymous SNV	PRAMEF9:NM_001010890:exon2:c.A809G:p.H270R,PRAMEF27:NM_001300891:exon3:c.A809G:p.H270R	.	913	604	3	2	0	7	0.00576132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368890214	0.0042	0.0086	0.0039	0.0044	0.0196	0.0040	0.0039	0.0143	0.0125	0.0035	0.0012	0.0092	0.0020	0.0027	0.0196	0.0039	0.0043	0.0074	0.0043	0.0057	0.0045	0.0041	0.0074	0.0038	0.0036	0.0038	0.0035	0.0046	0	0.0009	0.0066	0.0009	0	0.0169	0.0047	0.0071	0.0074	.	.	.	0.57	0.08808	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00882	.	.	.	.	.	.	.	0.011972338	0.00259	T	.	.	.	.	.	.	.	.	.	0.09978324942596131	0.09909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.02313	B	.	.	-1.947450	0.00114	0.002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.165000	0.03242	-10.558000	0.00689	-4.735000	0.00021	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	130.53	9	chr1	13176756	.	A	G	130.53	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.202;DP=71;ExcessHet=0;FS=12.175;MLEAC=1;MLEAF=0.083;MQ=25.03;MQRankSum=1.85;QD=11.87;ReadPosRankSum=-0.087;SOR=1.032	GT:AD:DP:GQ:PL	0/0:22,0:22:57:0,57,855	5	0	1	1
chr1	13178969	13178969	A	T	exonic	PRAMEF27;PRAMEF9	.	nonsynonymous SNV	PRAMEF9:NM_001010890:exon3:c.A1274T:p.D425V,PRAMEF27:NM_001300891:exon4:c.A1274T:p.D425V	.	477	1037	8	0	0	8	0.00384246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs192695001	0.0019	0.0021	0.0021	0.0018	0.0024	0.0019	0.0019	0.0023	0.0023	0.0004	0.0009	4.014e-05	0	9.763e-05	0.0016	0.0024	0.0021	0.0003	0.0013	0.0013	0.0015	0.0010	0.0024	0.0011	0.0011	0.0021	0.0020	0.0004	0	0.0007	0.0003	0	0.0001	0.0038	0.0024	0	0	.	.	.	0.519	0.10501	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.15046	.	.	.	.	.	.	.	0.048883855	0.04401	T	.	.	.	.	.	.	.	.	.	0.2976366178196139	0.29676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35951	B	.	.	-0.399091	0.02216	0.223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.954000	0.03983	-20.000000	0.00162	-0.497000	0.05030	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	2300.27	40	chr1	13178969	.	A	T	2300.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.759;DP=768;ExcessHet=0;FS=0.602;MLEAC=1;MLEAF=0.083;MQ=48.87;MQRankSum=-0.18;QD=4.15;ReadPosRankSum=1.39;SOR=0.636	GT:AD:DP:GQ:PL	0/1:412,142:554:99:2310,0,10233	5	0	1	1
chr1	13223384	13223384	G	A	exonic	PRAMEF18;PRAMEF22	.	nonsynonymous SNV	PRAMEF18:NM_001099850:exon3:c.C1388T:p.S463L,PRAMEF22:NM_001100631:exon3:c.C1388T:p.S463L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1490707968	7.289e-06	1.219e-05	6.446e-06	8.14e-06	0.0001	3.43e-06	2.48e-06	3.668e-05	1.888e-05	0	0	0	0.0001	0	0	4.173e-06	4.172e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.00162	N	15.784200	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0850	0.06407	T	0.087	0.33690	T	10	0.10855663	0.20212	T	0.041831	0.60142	D	.	.	0.459	0.52590	0.1749357433	0.17121	0.15138908562341735	0.15060	.	.	0.436713755131	0.30128	T	0.008064	0.07418	T	-0.346644	0.04941	T	-0.735706	0.04073	T	0.0810552388429642	0.10121	T	.	.	.	0.14747946	0.33712	0.08924451	0.20859	0.14747946	0.33712	0.08924451	0.20859	-3.748	0.20029	T	.	.	0.109	0.20741	B	.	.	-1.094615	0.00646	0.018	0.73993275299745076	0.10530	0.00084	0.00566	N	AEFI	.	.	.	-1.38381965232659	0.02789	0.1236714	-1.51480657881038	0.02230	0.1022405	2.64420154390851E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.23	-2.2	0.06601	-4.621000	0.00239	-9.213000	0.00851	-3.363000	0.00092	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6162:0.0:0.3838:0.0	4.650	0.11976	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	45.27	48	chr1	13223384	.	G	A	45.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.645;DP=226;ExcessHet=0;FS=3.979;MLEAC=1;MLEAF=0.083;MQ=26.22;MQRankSum=1.04;QD=9.05;ReadPosRankSum=1.04;SOR=0.061	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,105,986:.	5	0	1	1
chr1	13281633	13281633	A	G	exonic	PRAMEF8	.	nonsynonymous SNV	PRAMEF8:NM_001012276:exon4:c.T1163C:p.I388T	.	447	1068	7	0	0	7	0.00326645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.0392094899584	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1261687327	0.0006	0.0006	0.0006	0.0007	0.0024	0.0006	0.0006	0.0022	0.0021	5.989e-05	8.956e-05	0	0	0	0.0017	0.0006	0.0006	0.0024	0.0004	0.0004	0.0004	0.0004	0.0021	0.0003	0.0003	0.0011	0.0008	7.507e-05	0	7.264e-05	0	0	0	0	0.0006	0.0026	0.0021	0.262	0.16466	T	0.205	0.27145	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.11	0.01224	T	-3.38	0.66780	D	0.289	0.34336	.	.	.	.	.	.	.	0.29297444	0.46873	T	.	.	.	.	.	.	.	0.186928172975	0.18263	0.36682660529706146	0.36596	.	.	0.565986931324	0.48111	T	0.100821	0.40699	T	0.0184342	0.54170	T	-0.211297	0.53571	T	.	.	.	.	.	.	0.0498263	0.08909	0.12004041	0.28972	0.0498263	0.08908	0.12004041	0.28971	-6.743	0.52133	T	.	.	0.537	0.66914	A	.;.;.	.;.;.	2.431563	0.31284	18.69	0.63082009607711964	0.07130	0.49232	0.28386	N	AEFI	0.058508	0.10982	N	.	.	.	.	.	.	6.82775468482763E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.56	1.56	0.22423	3.606000	0.53846	3.706000	0.39541	0.359000	0.20063	0.858000	0.30578	0.186000	0.23459	0.052000	0.15357	1.0:0.0:0.0:0.0	7.169	0.24883	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1686.63	134	chr1	13281633	.	A	G	1686.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.171;DP=318;ExcessHet=0;FS=33.886;MLEAC=1;MLEAF=0.071;MQ=34.99;MQRankSum=1.04;QD=12.59;ReadPosRankSum=0.004;SOR=0.471	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1403	6	0	1	0
chr1	13318598	13318598	G	A	exonic	PRAMEF15	.	nonsynonymous SNV	PRAMEF15:NM_001098376:exon2:c.G191A:p.R64H	.	405	1091	26	0	0	26	0.0117754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0369774697323	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1472959485	0.0003	0.0067	0.0003	0.0003	0.0013	0.0003	0.0003	0.0007	0.0006	0.0005	0.0002	0.0002	0.0009	9.573e-05	0.0013	0.0003	0.0003	0.0005	0.0003	0.0025	0.0002	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	0.0004	0.0035	6.657e-05	0	0.0006	0.0002	0	0.0002	0.0005	0.0004	0.525	0.07140	T	0.575	0.08654	T	.	.	.	.	.	.	0.074092	0.02283	N	1.881130	1	0.08975	N	.	.	.	2.79	0.11189	T	-0.55	0.16799	N	0.044	0.01658	-1.0293	0.20681	T	0.015	0.05946	T	8	0.023069829	0.00593	T	0.001222	0.01608	T	.	.	.	.	0.0297737177859	0.01360	0.23243132047722803	0.23158	.	.	0.456076145172	0.32774	T	.	.	.	-0.42041	0.01700	T	-0.841667	0.01074	T	0.0221624638565028	0.00927	T	0.152485	0.01303	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.16973	B	.	.	-0.306877	0.02587	0.318	0.3247514774469345	0.01884	0.00112	0.00708	N	AEFI	0.021848	0.01021	N	-1.54749839839041	0.01549	0.06767291	-1.73690248014379	0.00983	0.04406507	1.1847666085279E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.15	-2.29	0.06419	-0.600000	0.05789	-8.133000	0.01022	-3.802000	0.00059	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.2401:0.3173:0.2441:0.1984	0.434	0.00444	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	327.63	38	chr1	13318598	.	G	A	327.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.38;DP=717;ExcessHet=0;FS=14.84;MLEAC=1;MLEAF=0.071;MQ=37.98;MQRankSum=-3.539;QD=1.26;ReadPosRankSum=-0.818;SOR=2.031	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:234,25:259:99:0|1:13318598_G_A:338,0,9513:13318598	6	0	1	0
chr1	13318601	13318601	G	A	exonic	PRAMEF15	.	nonsynonymous SNV	PRAMEF15:NM_001098376:exon2:c.G194A:p.R65H	.	406	1103	13	0	0	13	0.00585849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0336539354214	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416469108	5.572e-05	0.0019	5.475e-05	5.67e-05	0.0009	4.569e-05	4.179e-05	0.0003	0.0002	8.969e-05	2.244e-05	0.0004	2.52e-05	1.877e-05	0.0009	3.437e-05	8.326e-05	0.0002	0.0001	0.0007	0.0002	0.0001	0.0006	9.796e-05	8.303e-05	0.0002	9.119e-05	9.639e-05	0	6.588e-05	0.0003	0	9.445e-05	0	0.0002	0.0005	0.0006	0.204	0.20078	T	0.542	0.09690	T	.	.	.	.	.	.	0.212854	0.03399	N	1.582610	1	0.08975	N	.	.	.	2.79	0.11189	T	-2.67	0.57110	D	0.089	0.06720	-0.9832	0.34258	T	0.043	0.18576	T	8	0.088977695	0.15370	T	0.001103	0.01312	T	.	.	.	.	0.0297737177859	0.01360	0.23248738235852817	0.23163	.	.	0.376942545176	0.21821	T	.	.	.	-0.398143	0.02381	T	-0.809682	0.01672	T	0.115081892617503	0.13942	T	0.555844	0.19272	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.16973	B	.	.	0.481113	0.08503	5.267	0.62407952715295867	0.06955	0.00427	0.02100	N	AEFI	0.022775	0.01181	N	-1.00019295008573	0.08600	0.4038423	-1.23786836837196	0.05313	0.2528468	1.09865888659562E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.15	0.144	0.14120	-0.846000	0.04444	-10.921000	0.00652	-0.668000	0.04312	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2396:0.0:0.7604:0.0	4.502	0.11278	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	327.63	38	chr1	13318601	.	G	A	327.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.61;DP=525;ExcessHet=0;FS=14.84;MLEAC=1;MLEAF=0.071;MQ=37.93;MQRankSum=-3.539;QD=1.26;ReadPosRankSum=-1.426;SOR=2.031	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:234,25:259:99:0|1:13318598_G_A:338,0,9513:13318598	6	0	1	0
chr1	13342607	13342607	C	T	exonic	PRAMEF14	.	nonsynonymous SNV	PRAMEF14:NM_001024661:exon4:c.G1346A:p.R449K	.	503	1001	17	1	0	19	0.00940129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00109974540678	.	.	0.0019	0	0.0011	0	0	0.0009	0	0.0085	3.84e-05	1	26028	rs1324541849	0.0003	0.0003	0.0002	0.0004	0.0053	0.0003	0.0003	0.0036	0.0030	2.995e-05	0.0002	0	0	0	0.0053	0.0001	0.0006	0.0029	0.0003	0.0003	0.0002	0.0004	0.0021	0.0002	0.0002	0.0012	0.0009	0	0	0.0009	0	0	0	0	0.0003	0.0010	0.0021	0.626	0.05214	T	0.71	0.05525	T	.	.	.	.	.	.	0.111987	0.02648	N	1.865810	1	0.08975	N	.	.	.	0.99	0.41750	T	-0.73	0.20576	N	0.136	0.13341	-0.9325	0.43770	T	0.079	0.31375	T	10	0.009587437	0.00216	T	0.004777	0.11941	T	0.134	0.36365	.	.	0.262679179196	0.25893	0.2802771960510292	0.27940	2.37714289507	0.96994	.	.	.	.	.	.	-0.351935	0.04606	T	-0.743307	0.03752	T	0.0367927106218515	0.03119	T	0.49835	0.15517	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.33868	B	.	.	0.099966	0.05017	1.569	0.83514178786859039	0.14768	0.00111	0.00708	N	AEFI	0.023594	0.01336	N	-1.22802562129505	0.04598	0.2078294	-1.48912795905479	0.02433	0.1118918	3.51584852855449E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.69	-3.38	0.04577	-1.397000	0.02617	-20.000000	0.00162	0.295000	0.18837	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.3219:0.2422:0.1618:0.2741	0.115	0.00055	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005784	0.000000	0.002770	0.004587	0.000000	0.018182	0.004274	0.008929	0.07143	1348.44	37	chr1	13342607	.	C	T	1348.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.25;DP=313;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.05;MQRankSum=2.23;QD=12.37;ReadPosRankSum=1.83;SOR=0.752	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	6	0	1	0
chr1	15251806	15251806	G	A	exonic	FHAD1	.	nonsynonymous SNV	FHAD1:NM_052929:exon2:c.G22A:p.A8T	.	411	1106	4	1	0	6	0.00270514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.0155139114201	.	0.00239617	0.0012	0.0092	0.0025	0	0	0.0001	0.0041	0.0004	0.0002717	42	154602	rs115891318	0.0003	0.0003	0.0004	0.0003	0.0090	0.0003	0.0003	0.0081	0.0078	0.0090	0.0007	0	5.597e-05	0	0.0014	6.95e-05	0.0005	0.0003	0.0026	0.0026	0.0027	0.0024	0.0088	0.0023	0.0023	0.0081	0.0078	0.0088	0	0.0009	0	0	0	0.0034	2.94e-05	0.0024	0.0002	0.127	0.27080	T	0.031	0.53788	D	0.897	0.49385	P	0.252	0.39069	B	0.178608	0.17166	U	0.493257	0.996333	0.23046	N	0.345	0.11182	N	0.92	0.44461	T	-0.93	0.24898	N	0.072	0.10340	-1.0995	0.04152	T	0.057	0.23980	T	10	0.004728228	0.00100	T	0.015514	0.36282	T	0.068	0.19811	.	.	0.0551355673512	0.04727	0.21655970750102463	0.21571	.	.	0.51753115654	0.41278	T	0.003448	0.02859	T	-0.471915	0.00827	T	-0.4434	0.28429	T	0.033531106774574	0.02559	T	0.658834	0.26791	T	0.08021534	0.18369	0.11904798	0.28735	0.08021534	0.18369	0.11904798	0.28734	-3.615	0.18074	T	.	.	0.103	0.20078	B	.;.	.;.	2.474005	0.31895	18.88	0.90243967727024876	0.19515	0.47032	0.27892	N	AEFBI	0.116384	0.22845	N	-0.190958187335377	0.33509	1.901933	-0.136758645122829	0.33922	1.945615	0.00210776275383699	0.09158	0.446893	0.09132	0	0.573078	0.20572	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.96	2.91	0.32903	0.872000	0.27688	3.474000	0.38602	0.674000	0.70861	0.972000	0.34453	0.998000	0.33993	0.743000	0.35541	0.0:0.1736:0.6218:0.2046	7.339	0.25801	963	0.08280	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006565	0.021277	0.005882	0.004065	0.000000	0.000000	0.000000	0.000000	0.07143	1268.49	37	chr1	15251806	.	G	A	1268.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.105;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.14;ReadPosRankSum=1.46;SOR=0.633	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1199	6	0	1	0
chr1	15467497	15467497	G	A	exonic	CELA2A	.	nonsynonymous SNV	CELA2A:NM_033440:exon7:c.G751A:p.V251I	.	.	.	.	.	.	.	.	.	.	.	3303800	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.525	0.0177263533856	0.0002	.	0.0001	0	0.0003	0.0001	0	0.0001	0	6.058e-05	8.41e-05	13	154602	rs376888050	0.0001	0.0001	0.0001	9.901e-05	0.0003	9.115e-05	8.645e-05	0.0002	0.0001	8.961e-05	0.0003	0	7.557e-05	0	0	0.0001	0.0002	3.478e-05	5.257e-05	5.253e-05	1.285e-05	9.416e-05	0.0002	2.557e-05	1.83e-05	5.285e-05	2.835e-05	0	0	0.0002	0	0	0	0	7.35e-05	0	0	0.046	0.40573	D	0.047	0.48855	D	0.578	0.38765	P	0.226	0.38054	B	0.000106	0.50451	U	0.000000	0.993682	0.42019	D	1.565	0.39561	L	-2.72	0.90622	D	-0.81	0.22294	N	0.647	0.65844	0.203	0.85954	D	0.589	0.85285	D	10	0.6296252	0.68441	D	0.017726	0.39542	T	0.525	0.79886	.	.	0.675404156814	0.67265	0.5120069098644205	0.51122	0.334029153294	0.35426	0.51552438736	0.40996	T	0.269022	0.64119	T	-0.0967974	0.36955	T	-0.0750978	0.65261	T	0.203400717516798	0.20602	T	0.636336	0.25008	T	0.17164148	0.37809	0.18535025	0.41642	0.17164148	0.37809	0.18535025	0.41641	-6.099	0.47100	T	0.3416487187396274	0.43937	0.191	0.41047	B	.	.	4.160095	0.62465	24.5	0.99269603870068224	0.57491	0.99027	0.90159	D	AEFDGI	0.909447	0.86609	D	0.0270020980629302	0.43085	2.60845	0.0220085936265131	0.40738	2.436101	0.999991417898029	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.08	3.08	0.34576	9.662000	0.97877	7.253000	0.57936	0.509000	0.23192	1.000000	0.71638	1.000000	0.68203	0.022000	0.11911	0.0:0.0:1.0:0.0	12.796	0.56940	917	0.20147	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2750.46	33	chr1	15467497	.	G	A	2750.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.845;DP=425;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.017;SOR=0.725	GT:AD:DP:GQ:PL	0/1:117,119:236:99:2761,0,2571	6	0	1	0
chr1	15487436	15487436	C	A	exonic	CELA2B	.	stopgain	CELA2B:NM_015849:exon7:c.C791A:p.S264X	.	429	1092	1	0	0	1	0.000457666	0.0002	0.178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs765578060	3.42e-06	4.104e-06	5.445e-06	1.375e-06	2.236e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	0	2.236e-05	0	0	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174730	0.03138	U	1.940610	0.954796	0.26357	N	.	.	.	.	.	.	.	.	.	0.158	0.16447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342697	0.86016	D	0.254484	0.85832	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.588115	0.96667	36	0.93141077115308324	0.22785	0.03149	0.08110	N	AEFDBI	0.193057	0.32019	N	-0.0349845572781547	0.40275	2.389076	-0.4105780063068	0.24687	1.353257	7.11402723864534E-4	0.07685	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.62	-0.878	0.10079	0.024000	0.13447	-4.361000	0.02197	0.578000	0.29377	0.000000	0.06391	0.000000	0.08366	0.071000	0.16709	0.6004:0.3996:0.0:0.0	12.537	0.55491	922	0.19044	Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1795.44	52	chr1	15487436	.	C	A	1795.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.053;DP=456;ExcessHet=0;FS=5.033;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=-0.064;SOR=0.428	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	6	0	1	0
chr1	15524188	15524188	C	A	exonic	CASP9	.	nonsynonymous SNV	CASP9:NM_001229:exon1:c.G13T:p.D5Y,CASP9:NM_001278054:exon1:c.G13T:p.D5Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.674574502148	8.2e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374378619	0	6.156e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.571e-06	6.567e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.212	0.26300	T	0.294	0.22761	T	0.985	0.61118	D	0.668	0.53048	P	0.000521	0.43753	D	0.234076	0.999988	0.54805	D	2.285	0.65182	M	0.84	0.47477	T	-1.97	0.47344	N	0.325	0.44666	-1.0450	0.15825	T	0.120	0.41886	T	10	0.33323383	0.50516	T	0.674575	0.97292	D	0.135	0.36572	.	.	0.686876278679	0.68419	0.5169459326877894	0.51617	0.400734935992	0.41073	0.794383049011	0.81109	T	0.135127	0.46676	T	-0.0172473	0.49246	T	-0.262551	0.48569	T	0.779464781284332	0.45017	D	0.790321	0.56401	T	0.4772923	0.65736	0.2806192	0.54038	0.4772923	0.65737	0.2806192	0.54037	-10.416	0.76363	D	.	.	0.369	0.70101	A	.;.;.;.	.;.;.;.	2.748246	0.36012	20.1	0.67110577752041423	0.08257	0.24552	0.22429	N	ALL	0.133610	0.25334	N	-0.0504100051158599	0.39583	2.336673	-0.0914738979893278	0.35740	2.071428	0.999999999981901	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.59	3.64	0.40864	0.417000	0.20934	3.266000	0.37125	0.542000	0.25261	0.002000	0.15269	0.997000	0.33255	0.035000	0.13729	0.0:0.7251:0.2749:0.0	10.215	0.42339	911	0.21964	CARD domain|CARD domain;CARD domain|CARD domain;.;CARD domain|CARD domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	49.49	20	chr1	15524188	.	C	A	49.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=130;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.95;ReadPosRankSum=0.493;SOR=0.169	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:21,0:21:63:.:.:0,63,561:.	6	0	1	0
chr1	15524198	15524198	C	A	exonic	CASP9	.	startloss	CASP9:NM_001229:exon1:c.G3T:p.M1?,CASP9:NM_001278054:exon1:c.G3T:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.421	0.988033777838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.68	0.51952	T	-2.8	0.59226	D	0.671	0.68863	-0.4020	0.71963	T	0.301	0.67251	T	9	0.79959565	0.79381	D	0.988034	0.99950	D	0.421	0.73005	0.976	0.99776	0.74168729342	0.73937	0.5932857724034143	0.59258	.	.	.	.	.	0.297735	0.67033	T	0.361276	0.87354	D	0.281172	0.87191	D	0.993541717529297	0.84384	D	0.9	0.65058	D	0.9840481	0.99402	0.98460937	0.99917	0.9840481	0.99403	0.98460937	0.99918	-11.019	0.79762	D	.	.	.	.	.	.;.;.;.	.;.;.;.	3.969763	0.58280	24.0	0.9798948839099626	0.37393	0.77136	0.37894	D	ALL	0.053010	0.09514	N	0.388161447376785	0.60779	4.270784	0.318622085584759	0.56633	3.82705	0.999999999999989	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.59	4.59	0.56297	2.856000	0.48040	7.403000	0.58588	0.462000	0.21616	0.998000	0.41325	1.000000	0.68203	0.017000	0.10941	0.0:1.0:0.0:0.0	14.232	0.65446	911	0.21964	CARD domain|CARD domain;CARD domain|CARD domain;.;CARD domain|CARD domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	52.49	20	chr1	15524198	.	C	A	52.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.242;DP=122;ExcessHet=0;FS=3.802;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.83;ReadPosRankSum=0.921;SOR=0.078	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:21,0:21:63:.:.:0,63,598:.	6	0	1	0
chr1	15559540	15559540	G	C	exonic	DNAJC16	.	nonsynonymous SNV	DNAJC16:NM_001287811:exon7:c.G102C:p.K34N,DNAJC16:NM_015291:exon8:c.G1038C:p.K346N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0328347890655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0033	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	9.11e-05	2.242e-05	0.0002	0.0002	0.0002	0	0.0003	0.0002	6.995e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.40832	T	0.002	0.83351	D	0.998	0.73220	D	0.852	0.60758	P	0.000001	0.84330	D	0.092863	0.978976	0.25213	N	2.62	0.76659	M	2.29	0.17113	T	-1.14	0.29323	N	0.808	0.81658	-1.0776	0.07821	T	0.076	0.30492	T	10	0.615474	0.67681	D	0.032835	0.54554	D	0.109	0.30843	0.288	0.24761	0.361160317528	0.35726	0.7971393182230749	0.79666	0.675634459511	0.59719	0.593763709068	0.52025	T	0.024746	0.32281	T	-0.129001	0.31658	T	-0.423077	0.30724	T	0.763135969638824	0.44033	D	0.957038	0.84692	D	0.17311552	0.38042	0.10023495	0.23959	0.17311552	0.38041	0.10023495	0.23958	-3.109	0.43915	T	.	.	0.535	0.66159	A	.;.;.;.	.;.;.;.	4.221675	0.63864	24.6	0.99651966654979685	0.77380	0.89772	0.50455	D	AEFDGBCI	0.332943	0.43219	N	0.165367727067141	0.49541	3.153414	0.114872783977894	0.45307	2.796318	0.999975053923645	0.50053	0.722319	0.85440	0	0.653731	0.59785	0	0.698795	0.65105	0	0.674467	0.66132	0	.	.	5.95	4.1	0.47196	2.185000	0.42215	3.965000	0.40779	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.796000	0.37562	0.2241:0.0:0.7759:0.0	9.034	0.35440	906	0.23090	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	241.94	90	chr1	15559540	.	G	C	241.94	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.795;DP=601;ExcessHet=0.4139;FS=225.808;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.2;ReadPosRankSum=1.12;SOR=7.903	GT:AD:DP:GQ:PL	0/0:120,0:120:20:0,20,2642	4	0	2	1
chr1	15929647	15929647	T	C	exonic	SPEN	.	nonsynonymous SNV	SPEN:NM_015001:exon11:c.T3407C:p.L1136P	.	432	1087	2	1	0	4	0.00183655	.	.	.	3608280	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.00391718341094	.	0.000399361	3.338e-05	0	0.0002	0	0	3.034e-05	0	0	4.53e-05	7	154602	rs184914524	1.642e-05	1.642e-05	1.906e-05	1.375e-05	0.0007	1.111e-05	9.33e-06	0.0002	0.0001	5.974e-05	4.472e-05	0	0	0	0.0007	1.439e-05	0	0	1.313e-05	1.312e-05	2.569e-05	0	0.0001	2.18e-06	8.2e-07	2.258e-05	9.06e-06	0	0	0.0001	0	0	0	0	0	0	0	0.118	0.28148	T	0.18	0.29442	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	0.999637	0.47961	D	1.085	0.27262	L	2.95	0.09635	T	-0.48	0.15379	N	0.341	0.38232	-1.0030	0.29050	T	0.018	0.07565	T	9	0.033000946	0.01465	T	0.003917	0.09242	T	0.045	0.12272	0.132	0.03662	0.143184338766	0.13958	0.28231343629091177	0.28144	0.379407620271	0.39337	0.463182151318	0.33747	T	0.127581	0.45469	T	-0.331871	0.05971	T	-0.538639	0.18431	T	0.0173935108977619	0.00477	T	0.571043	0.20346	T	0.051895842	0.09598	0.11825039	0.28544	0.051895842	0.09598	0.11825039	0.28543	-3.451	0.15752	T	.	.	0.088	0.11749	B	.	.	2.587087	0.33551	19.37	0.85670407498742951	0.16038	0.90811	0.52305	D	AEFBCIJ	0.222492	0.34698	N	-0.283903112528454	0.29769	1.653862	-0.0988968439032653	0.35436	2.050131	0.0295253882444391	0.13891	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.2	4.03	0.46115	2.766000	0.47312	5.050000	0.46989	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.0:0.15:0.0:0.85	8.621	0.33021	419	0.81524	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	5744.44	136	chr1	15929647	.	T	C	5744.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.031;DP=1050;ExcessHet=0;FS=2.457;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=-1.493;SOR=0.877	GT:AD:DP:GQ:PL	0/0:290,0:290:99:0,120,1800	6	0	1	0
chr1	16023870	16023945	GGTGCTCATGGCCCTGGTCAGCTATGCCATGAACTTTGCCATCGGGTGTGTGGTCCGAGGTAACTCTTCCCTGGCA	-	exonic	CLCNKA	.	frameshift deletion	CLCNKA:NM_001042704:exon3:c.171_229del:p.V58Tfs*115,CLCNKA:NM_001257139:exon3:c.171_229del:p.V58Ffs*72,CLCNKA:NM_004070:exon3:c.171_229del:p.V58Tfs*115	Bartter syndrome, type 4b, digenic, Digenic recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	67.4	33	chr1	16023869	.	GGGTGCTCATGGCCCTGGTCAGCTATGCCATGAACTTTGCCATCGGGTGTGTGGTCCGAGGTAACTCTTCCCTGGCA	G	67.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.38;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.85;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1295	6	0	1	0
chr1	16410043	16410043	C	T	exonic	SPATA21	.	nonsynonymous SNV	SPATA21:NM_001353349:exon4:c.G76A:p.E26K,SPATA21:NM_198546:exon6:c.G145A:p.E49K	.	399	1109	14	0	0	14	0.0062724	0.0682	0.342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	.	0.0004	0.000599042	0.0010	0.0002	0.0011	0	0	0.0014	0.0026	0.0008	0.0009702	150	154602	rs201182640	0.0008	0.0008	0.0008	0.0008	0.0106	0.0008	0.0008	0.0083	0.0076	0.0004	0.0010	0.0049	0	1.96e-05	0.0106	0.0007	0.0017	0.0007	0.0007	0.0007	0.0008	0.0007	0.0012	0.0006	0.0006	0.0008	0.0007	0.0002	0	0.0012	0.0043	0	0	0.0136	0.0009	0.0019	0.0002	0.009	0.91255	D	0.036	0.62352	D	0.793	0.44725	P	0.196	0.36635	B	0.170082	0.17400	N	0.481200	0.708219	0.30039	N	2.255	0.64187	M	-0.86	0.74477	T	-1.73	0.41046	N	0.309	0.34874	-0.5983	0.64887	T	0.253	0.62258	T	10	0.0063958764	0.00146	T	0.02057	0.43191	T	0.221	0.51721	.	.	0.409124616982	0.40530	0.2156261966168259	0.21478	0.207277676253	0.23183	0.401835441589	0.25325	T	0.004957	0.04384	T	-0.379487	0.03139	T	-0.363435	0.37655	T	0.029477732060472	0.01909	T	0.591441	0.21800	T	0.08622826	0.20034	0.113605924	0.27418	0.08622826	0.20033	0.113605924	0.27417	-3.981	0.29216	T	.	.	0.104	0.32922	B	.;.	.;.	3.894111	0.56683	23.8	0.99815731946285613	0.89885	0.17090	0.19685	N	AEFDBI	0.117871	0.23073	N	-0.364218364561367	0.26753	1.462499	-0.432620193178793	0.24046	1.31461	0.999546033684751	0.40300	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.94	0.615	0.16784	-0.163000	0.09986	0.415000	0.18155	0.534000	0.24903	0.079000	0.22314	0.986000	0.30841	0.499000	0.28994	0.0:0.3971:0.6029:0.0	11.609	0.50307	784	0.47045	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004601	0.010309	0.009511	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	281.49	35	chr1	16410043	.	C	T	281.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.988;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=1.2;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:49,0:49:99:.:.:0,116,1644:.	6	0	1	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.336496	0.271084	0.351499	0.376068	0.277778	0.344828	0.297297	0.384000	0.4286	16269.5	430	chr1	16563946	.	C	T	16269.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=2.38;DP=3010;ExcessHet=8.2628;FS=0.606;MLEAC=6;MLEAF=0.429;MQ=58.73;MQRankSum=-7.271;QD=6.67;ReadPosRankSum=-0.073;SOR=0.812	GT:AD:DP:GQ:PL	0/1:397,206:603:99:4847,0,11104	1	0	6	0
chr1	16563989	16563989	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	391	314	816	1	0	818	0.565698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3891	0.2879	0.4120	0.2492	0.4146	0.4143	0.3885	0.3951	0.0044437	687	154602	rs12117084	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0.0016	0.0027	0.0029	0	0.0030	0	0	.	.	0	.	0	0	.	0	0	0.0030	0	0	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.0024681687	0.00037	T	.	.	.	.	.	.	.	.	.	0.02352237282194909	0.02304	.	.	0.575379014015	0.49435	T	.	.	.	-0.455599	0.01046	T	-0.892213	0.00559	T	.	.	.	0.687031	0.29593	T	.	.	.	.	.	.	.	.	-3.451	0.15752	T	.	.	0.172	0.37820	B	.	.	0.069283	0.04780	1.396	0.1972110124842818	0.00678	0.00975	0.03723	N	AEFDBCIJ	0.029075	0.02679	N	.	.	.	.	.	.	7.36511087105358E-4	0.07723	0.383005	0.05895	0	0.332388	0.05802	1	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	-0.694000	0.05217	-10.261000	0.00721	-1.511000	0.01016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.358989	0.280488	0.387978	0.366379	0.277778	0.379310	0.324138	0.412000	0.4286	18013.5	619	chr1	16563989	.	G	C	18013.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.809;DP=4019;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=59.42;MQRankSum=-0.593;QD=5.25;ReadPosRankSum=0.556;SOR=0.723	GT:AD:DP:GQ:PL	0/1:625,259:884:99:5186,0,17272	1	0	6	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.364819	0.306250	0.372283	0.388889	0.187500	0.405172	0.335714	0.360000	0.4286	15251.5	646	chr1	16564107	.	T	G	15251.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.876;DP=3869;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=55.69;MQRankSum=3.18;QD=4.75;ReadPosRankSum=1.46;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:616,0:616:99:.:.:0,120,1800:.	1	0	6	0
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.428814	0.400000	0.425272	0.420168	0.375000	0.439655	0.440559	0.455645	0.5	26158.1	476	chr1	16564144	.	C	T	26158.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.919;DP=3008;ExcessHet=14.2834;FS=3.476;MLEAC=7;MLEAF=0.5;MQ=52.79;MQRankSum=-17.02;QD=8.98;ReadPosRankSum=0.726;SOR=0.923	GT:AD:DP:GQ:PL	0/1:316,301:617:99:7546,0,9294	0	0	7	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.483089	0.444444	0.491848	0.487395	0.375000	0.500000	0.478873	0.492000	0.5	19289.1	458	chr1	16564149	.	C	T	19289.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.453;DP=2860;ExcessHet=14.2834;FS=1.998;MLEAC=7;MLEAF=0.5;MQ=52.6;MQRankSum=6.43;QD=6.88;ReadPosRankSum=-0.812;SOR=0.526	GT:AD:DP:GQ:PL	0/1:488,99:587:99:1345,0,17221	0	0	7	0
chr1	16564186	16564186	C	G	exonic	NBPF1	.	unknown	UNKNOWN	.	373	1100	49	0	0	49	0.0217875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0087	0.0025	0.0043	0	0.0106	0.0127	0.01	0.0034	0.0072444	1120	154602	rs200760413	0	2.379e-05	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.37509	.	.	.	.	.	.	.	0.007929355	0.00180	T	.	.	.	.	.	.	.	0.0884992946249	0.08302	0.07312084663879208	0.07249	.	.	0.449560642242	0.31884	T	.	.	.	-0.456395	0.01035	T	-0.535872	0.18705	T	.	.	.	0.973753	0.92190	D	.	.	.	.	.	.	.	.	-6.486	0.50178	T	.	.	0.619	0.69641	P	.;.	.;.	1.785020	0.22693	15.72	0.44714069370902609	0.03458	0.00541	0.02492	N	AEFBCI	0.039570	0.05765	N	.	.	.	.	.	.	2.85478778828593E-4	0.06355	0.071217	0.01513	1	0.046471	0.00084	3	0.066767	0.01867	0	0.123	0.03924	1	.	.	0.566	-1.13	0.09274	-0.422000	0.07110	-7.525000	0.01138	0.312000	0.19173	0.005000	0.17040	0.000000	0.08366	0.015000	0.10482	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.036976	0.054945	0.042120	0.024793	0.000000	0.025862	0.026846	0.015873	0.1429	757.24	189	chr1	16564186	.	C	G	757.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.05;DP=1221;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=52.46;MQRankSum=2.65;QD=1;ReadPosRankSum=-0.236;SOR=0.674	GT:AD:DP:GQ:PL	0/1:323,35:358:99:147,0,10618	5	0	2	0
chr1	16567226	16567226	A	C	exonic	NBPF1	.	unknown	UNKNOWN	.	324	803	395	0	0	395	0.197401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0195	.	0.1438	0.0722	0.1053	0.1226	0.1691	0.1504	0.1502	0.1896	0.10516	16258	154602	rs201533998	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.594e-05	0.0001	8.876e-05	0	5.065e-05	0.0007	0.0001	0	0	0.0001	0.0001	0.0001	3.682e-05	0.0001	7.054e-05	0	0.0002	1.377e-05	8.82e-06	1.31e-05	6.63e-06	0	0	0	0.0003	0.0002	0	0	4.936e-05	0	0	.	.	.	0.023	0.61642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.37093	.	.	.	.	.	.	.	0.0041511655	0.00082	T	.	.	.	.	.	.	.	.	.	0.023240658769933194	0.02276	.	.	0.600396811962	0.52961	T	.	.	.	-0.583903	0.00182	T	-0.597232	0.13045	T	.	.	.	0.937806	0.76632	D	.	.	.	.	.	.	.	.	-6.372	0.49291	T	.	.	0.237	0.50016	B	.;.	.;.	1.595410	0.20400	14.73	0.33525994525903774	0.02002	0.02869	0.07640	N	AEFDBHCIJ	0.038534	0.05466	N	.	.	.	.	.	.	0.473035393726149	0.20723	0.383005	0.05895	0	0.152768	0.03566	2	0.457825	0.06646	0	0.393	0.06807	0	.	.	0.39	0.39	0.15500	-0.142000	0.10293	-1.937000	0.04467	0.256000	0.18359	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.146872	0.116162	0.129076	0.131148	0.100000	0.155172	0.179878	0.175573	0.2143	2131.72	101	chr1	16567226	.	A	C	2131.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.974;DP=2770;ExcessHet=1.1394;FS=0.773;MLEAC=3;MLEAF=0.214;MQ=58.09;MQRankSum=-2.042;QD=1.23;ReadPosRankSum=0.017;SOR=0.653	GT:AD:DP:GQ:PL	0/0:363,0:363:99:0,105,1800	4	0	3	0
chr1	16569074	16569074	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	0.0002	0.0005	0	0.0001	0	0.0001	0	0.0004	0.0001294	20	154602	rs374641830	0.0003	0.0003	0.0003	0.0002	0.0004	0.0003	0.0003	0.0003	0.0003	4.924e-05	0	0	4.52e-05	0	0	0.0004	6.549e-05	2.734e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	0.0003	0	0	0	0	0	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	131.44	417	chr1	16569074	.	G	A	131.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.098;DP=800;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=45.48;MQRankSum=-3.122;QD=0.32;ReadPosRankSum=1.28;SOR=0.651	GT:AD:DP:GQ:PL	0/0:71,0:71:99:0,120,1800	6	0	1	0
chr1	16569091	16569091	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	375	889	257	1	0	259	0.127148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0326	.	0.0814	0.0173	0.0368	0.1017	0.0981	0.0848	0.0959	0.1219	0.0584727	9040	154602	rs78194517	0.0008	0.0021	0.0007	0.0008	0.0027	0.0007	0.0007	0.0022	0.0020	0.0002	0.0004	0.0007	0.0027	0.0010	0.0006	0.0007	0.0008	0.0018	0.0002	0.0012	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	8.673e-05	0.0001	0.0016	0	0	0.0006	0.0003	0	0.0002	0.0008	0.0004	.	.	.	0.292	0.31225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.0032458305	0.00055	T	.	.	.	.	.	.	.	.	.	0.019830771613370057	0.01936	.	.	0.407212525606	0.26071	T	.	.	.	-0.874566	0.00001	T	-1.00257	0.00134	T	.	.	.	0.680232	0.28883	T	.	.	.	.	.	.	.	.	-1.717	0.02274	T	.	.	0.125	0.26263	B	.;.	.;.	-0.319513	0.02533	0.303	0.58567040118532776	0.06022	0.00752	0.03125	N	AEFBCI	0.024799	0.01593	N	.	.	.	.	.	.	6.95502039275146E-5	0.04366	0.256867	0.04430	0	0.067947	0.01809	2	0.155693	0.03940	1	0.375513	0.06772	0	.	.	0.575	0.575	0.16558	-0.193000	0.09572	-0.014000	0.13018	-0.478000	0.05075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	467	0.78285	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.067524	0.046392	0.069482	0.067227	0.100000	0.068966	0.081761	0.073643	0.2857	4008.13	353	chr1	16569091	.	T	C	4008.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.173;DP=1782;ExcessHet=2.5225;FS=0;MLEAC=4;MLEAF=0.286;MQ=43.63;MQRankSum=-1.456;QD=3.26;ReadPosRankSum=0.533;SOR=0.69	GT:AD:DP:GQ:PL	0/0:71,0:71:99:0,120,1800	3	0	4	0
chr1	16577387	16577387	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	356	799	367	0	0	367	0.186768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434	.	0.2397	0.1662	0.2034	0.4259	0.2658	0.2330	0.2715	0.2199	0.0002523	39	154602	rs672812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.0049095154	0.00105	T	.	.	.	.	.	.	.	.	.	0.02503941752049605	0.02454	.	.	0.530892848969	0.43161	T	.	.	.	-0.607731	0.00131	T	-1.11074	0.00022	T	.	.	.	0.820118	0.47860	T	.	.	.	.	.	.	.	.	-10.2	0.75100	D	.	.	0.175	0.38263	B	.;.	.;.	-0.632514	0.01485	0.092	0.32524367853212488	0.01889	0.00033	0.00296	N	AEFI	0.015988	0.00334	N	.	.	.	.	.	.	7.48439775225963E-5	0.04552	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.192000	0.09585	-8.658000	0.00933	-0.551000	0.04898	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	444	0.79803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.224339	0.196970	0.248641	0.200820	0.150000	0.232759	0.243902	0.206107	0.1429	197.24	155	chr1	16577387	.	T	C	197.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.51;DP=1504;ExcessHet=0.3476;FS=3.264;MLEAC=2;MLEAF=0.143;MQ=44.03;MQRankSum=-3.813;QD=0.25;ReadPosRankSum=-1.508;SOR=1.225	GT:AD:DP:GQ:PL	0/1:383,45:428:99:164,0,10428	5	0	2	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.201754	0.190909	0.213499	0.135000	0.071429	0.254386	0.230469	0.197479	0.3571	627.36	36	chr1	16579293	.	A	G	627.36	.	AC=5;AF=0.357;AN=14;BaseQRankSum=0.692;DP=253;ExcessHet=4.7409;FS=122.377;MLEAC=5;MLEAF=0.357;MQ=35.32;MQRankSum=0.416;QD=3.18;ReadPosRankSum=-1.736;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,9:64:99:0|1:16579293_A_G:212,0,2279:16579293	2	0	5	0
chr1	16579294	16579294	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	528	581	397	16	0	429	0.269642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4727	0.4891	0.4739	0.4729	0.4642	0.4729	0.4624	0.4674	0.0008837	23	26028	rs4127115	2.497e-05	6.823e-05	2.58e-05	2.42e-05	0.0003	1.689e-05	1.419e-05	0.0001	0.0001	0.0002	0	8.871e-05	0.0003	0	0	8.967e-06	2.286e-05	0	0.0002	0.0010	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0001	0	0.0004	0.0002	0	0.0001	0	0.0002	.	.	.	0.626	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00407	.	.	.	.	.	.	.	0.0016256273	0.00019	T	.	.	.	.	.	.	.	.	.	0.015250635719149447	0.01481	.	.	0.530770659447	0.43143	T	.	.	.	-0.622413	0.00106	T	-1.13183	0.00013	T	.	.	.	0.49745	0.15470	T	.	.	.	.	.	.	.	.	-6.053	0.46720	T	.	.	0.064	0.01738	B	.;.	.;.	-0.476506	0.01943	0.166	0.24072861881687246	0.01047	0.00011	0.00159	N	AEFI	0.015935	0.00328	N	.	.	.	.	.	.	6.49849957978273E-4	0.07527	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.898000	0.04213	-20.000000	0.00162	-1.466000	0.01076	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.180503	0.190909	0.186464	0.120000	0.071429	0.254386	0.206349	0.176471	0.3571	627.36	36	chr1	16579294	.	T	C	627.36	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-3.374;DP=253;ExcessHet=4.7409;FS=122.377;MLEAC=5;MLEAF=0.357;MQ=35.27;MQRankSum=0.416;QD=3.18;ReadPosRankSum=-1.762;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,9:64:99:0|1:16579293_A_G:212,0,2279:16579293	2	0	5	0
chr1	16579305	16579305	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	547	597	363	15	0	393	0.247637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4396	0.4635	0.4334	0.4429	0.4244	0.4403	0.4359	0.4340	0.0011142	29	26028	rs10907245	0.0016	0.0023	0.0015	0.0017	0.0061	0.0015	0.0015	0.0053	0.0050	0.0061	0.0009	0.0028	0.0005	0.0002	0.0027	0.0016	0.0013	0.0019	0.0040	0.0094	0.0041	0.0039	0.0113	0.0037	0.0036	0.0105	0.0101	0.0113	0	0.0013	0.0026	0.0004	9.697e-05	0	0.0016	0.0049	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.062183	0.039216	0.051247	0.070000	0.000000	0.098214	0.070866	0.060345	0.1429	239.07	36	chr1	16579305	.	G	A	239.07	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.98;DP=250;ExcessHet=0.3476;FS=77.097;MLEAC=2;MLEAF=0.143;MQ=35.88;MQRankSum=-0.133;QD=2.28;ReadPosRankSum=-0.772;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,8:69:99:0|1:16579305_G_A:152,0,2512:16579305	5	0	2	0
chr1	16579308	16579308	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	536	678	298	10	0	318	0.189964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4169	0.4635	0.4098	0.4442	0.3977	0.4141	0.4226	0.4033	0.0009605	25	26028	rs10796417	2.988e-06	0.0001	2.05e-06	3.875e-06	1.313e-05	8e-07	2.2e-07	.	.	0	0	4.366e-05	0	0	0	1.416e-06	0	1.313e-05	4.685e-05	0.0005	7.844e-05	1.371e-05	7.453e-05	2.144e-05	1.549e-05	2.876e-05	1.88e-05	0	0	6.652e-05	0.0003	0	0	0	7.453e-05	0	0	.	.	.	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0018868446	0.00026	T	.	.	.	.	.	.	.	.	.	0.03536828552245914	0.03483	.	.	0.579951882362	0.50079	T	.	.	.	-0.382433	0.03007	T	-0.787115	0.02245	T	.	.	.	0.920308	0.71149	D	.	.	.	.	.	.	.	.	-9.586	0.71394	D	.	.	0.175	0.38372	B	.;.	.;.	1.521589	0.19533	14.31	0.3543343570932736	0.02223	0.00520	0.02423	N	AEFI	0.030698	0.03141	N	.	.	.	.	.	.	6.38433801032419E-4	0.07505	0.183328	0.03972	0	0.096583	0.02683	0	0.083675	0.02720	0	0.185264	0.04187	1	.	.	.	.	.	0.649000	0.24529	-0.171000	0.11226	0.423000	0.20817	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.063613	0.029412	0.062500	0.055000	0.000000	0.098214	0.070866	0.068376	0.1429	239.07	36	chr1	16579308	.	G	C	239.07	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.425;DP=252;ExcessHet=0.3476;FS=77.097;MLEAC=2;MLEAF=0.143;MQ=35.98;MQRankSum=-0.133;QD=2.28;ReadPosRankSum=-0.438;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,8:69:99:0|1:16579305_G_A:152,0,2518:16579305	5	0	2	0
chr1	16585502	16585502	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.341e-05	0	0.0011	0	0	0	0	0	3.84e-05	1	26028	rs754793179	1.045e-06	3.595e-05	0	2.022e-06	1.527e-06	0	0	.	.	0	0	0	0	0	0	1.527e-06	0	0	1.313e-05	0.0002	1.284e-05	1.342e-05	0.0001	2.18e-06	8.2e-07	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	74.27	32	chr1	16585502	.	C	T	74.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.149;DP=216;ExcessHet=0;FS=8.939;MLEAC=1;MLEAF=0.083;MQ=35.61;MQRankSum=-1.684;QD=2.32;ReadPosRankSum=1.51;SOR=3.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:52,0:52:99:.:.:0,120,1800:.	5	0	1	1
chr1	16585503	16585503	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00191162162936	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1355447859	0	1.83e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.313e-05	0.0002	1.284e-05	1.342e-05	0.0001	2.18e-06	8.2e-07	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	.	.	.	0.319	0.20100	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.01577	.	.	.	.	.	.	.	0.08576754	0.14513	T	0.001912	0.03377	T	.	.	.	.	0.267299060538	0.26338	0.02248142032686762	0.02200	.	.	0.530114293098	0.43050	T	.	.	.	-0.439623	0.01300	T	-0.869265	0.00749	T	.	.	.	0.485151	0.14792	T	.	.	.	.	.	.	.	.	-5.967	0.46003	T	.	.	0.103	0.18456	B	.;.	.;.	-0.016046	0.04173	1.007	0.53083506645787271	0.04871	0.00098	0.00638	N	AEFI	0.032574	0.03706	N	.	.	.	.	.	.	1.01336842137827E-4	0.05123	0.322412	0.05557	0	0.244055	0.04846	0	0.175069	0.04249	0	0.370666	0.05837	0	.	.	.	.	.	-2.038000	0.01506	-0.902000	0.06987	-2.431000	0.00286	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	450	0.79359	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	74.27	32	chr1	16585503	.	T	C	74.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.45;DP=216;ExcessHet=0;FS=8.939;MLEAC=1;MLEAF=0.083;MQ=35.61;MQRankSum=-1.684;QD=2.32;ReadPosRankSum=1.51;SOR=3.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:52,0:52:99:.:.:0,120,1800:.	5	0	1	1
chr1	16591991	16591991	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	383	1060	79	0	0	79	0.0359254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0129792	0.0297	0.0079	0.0171	0.0005	0.0368	0.0429	0.0268	0.0118	0.0239389	3701	154602	rs199564458	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	2.238e-05	3.831e-05	0	0	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.197	0.27855	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.29197	.	.	.	.	.	.	.	0.003590405	0.00065	T	.	.	.	.	.	.	.	.	.	0.05074882340970097	0.05016	.	.	0.617227673531	0.55337	T	.	.	.	-0.342333	0.05228	T	-0.729514	0.04349	T	.	.	.	0.806819	0.45619	T	.	.	.	.	.	.	.	.	-7.512	0.57695	D	.	.	0.081	0.08465	B	.;.	.;.	-0.110497	0.03581	0.696	0.68576904222900414	0.08701	0.00301	0.01603	N	AEFDBHCIJ	0.037390	0.05136	N	.	.	.	.	.	.	0.99999989870109	0.74766	0.205481	0.04072	1	0.188433	0.04229	0	0.216804	0.04610	0	0.364879	0.05822	1	.	.	0.566	-1.13	0.09274	-3.599000	0.00468	-6.832000	0.01295	-4.637000	0.00024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	452	0.79239	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.044824	0.040816	0.053134	0.066116	0.050000	0.051724	0.040625	0.027344	0.07143	1476.44	35	chr1	16591991	.	C	T	1476.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.44;DP=2812;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.21;MQRankSum=-1.792;QD=1.83;ReadPosRankSum=2.79;SOR=0.636	GT:AD:DP:GQ:PL	0/1:674,132:806:99:1487,0,17095	6	0	1	0
chr1	16757526	16757526	C	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon14:c.G1900C:p.A634P	.	384	766	370	1	1	373	0.195378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	.	.	.	0.1053	0.0655	0.1365	0.0133	0.1064	0.1147	0.0930	0.1251	0.0830326	12837	154602	rs2446543	6.846e-06	7.593e-05	8.174e-06	5.505e-06	3.482e-05	3.46e-06	2.52e-06	9.25e-06	4.56e-06	2.99e-05	0	0	0	0	0	5.4e-06	0	3.482e-05	2.629e-05	0.0002	3.858e-05	1.344e-05	6.547e-05	8.14e-06	5.14e-06	1.172e-05	6.25e-06	0	0	6.547e-05	0	0	0	0	4.416e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	2417.24	171	chr1	16757526	.	C	G	2417.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.181;DP=1351;ExcessHet=0.3476;FS=0.68;MLEAC=2;MLEAF=0.143;MQ=41.34;MQRankSum=-0.211;QD=3.78;ReadPosRankSum=1.08;SOR=0.596	GT:AD:DP:GQ:PL	0/1:222,87:309:99:1771,0,5937	5	0	2	0
chr1	16758952	16758952	G	A	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon10:c.C1244T:p.P415L	.	333	1136	53	0	0	53	0.0227957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	.	.	0.0252	0.0141	0.0169	0	0.0352	0.0336	0.0278	0.0134	0.0211511	3270	154602	rs202225848	0.0008	0.0071	0.0008	0.0008	0.0009	0.0008	0.0007	0.0009	0.0009	0.0003	0.0003	0.0004	0	0.0003	0.0005	0.0009	0.0006	0.0007	0.0021	0.0095	0.0020	0.0022	0.0031	0.0019	0.0018	0.0024	0.0021	0.0006	0.0023	0.0031	0.0024	0	0.0047	0	0.0025	0.0025	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	625.24	272	chr1	16758952	.	G	A	625.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.862;DP=2162;ExcessHet=0.3476;FS=4.016;MLEAC=2;MLEAF=0.143;MQ=50.19;MQRankSum=-3.129;QD=0.62;ReadPosRankSum=1.02;SOR=1.162	GT:AD:DP:GQ:PL	0/1:538,71:609:99:104,0,17360	5	0	2	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	2070.98	13	chr1	16759590	.	G	GC	2070.98	.	AC=8;AF=0.571;AN=14;BaseQRankSum=5.81;DP=263;ExcessHet=0.0509;FS=7.311;MLEAC=8;MLEAF=0.571;MQ=43.96;MQRankSum=-0.716;QD=10.57;ReadPosRankSum=-3.26;SOR=0.626	GT:AD:DP:GQ:PL	0/1:65,25:90:99:612,0,2037	2	3	2	0
chr1	16760442	16760442	G	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.C387A:p.N129K	.	382	1064	76	0	0	76	0.0344828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	.	.	.	0.0106	0.0089	0.0060	0	0.0183	0.0138	0.0126	0.0040	3.84e-05	1	26028	rs772310681	0.0016	0.0086	0.0017	0.0015	0.0027	0.0015	0.0015	0.0017	0.0017	0.0004	0.0002	0.0007	0	0.0028	0.0027	0.0018	0.0011	0.0005	0.0009	0.0060	0.0009	0.0009	0.0012	0.0008	0.0007	0.0010	0.0009	0.0003	0	0.0008	0.0009	0	0.0017	0	0.0012	0.0020	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	336.44	119	chr1	16760442	.	G	T	336.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.34;DP=604;ExcessHet=0;FS=4.615;MLEAC=1;MLEAF=0.071;MQ=39.98;MQRankSum=0.705;QD=3.09;ReadPosRankSum=0.825;SOR=1.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:180,0:180:99:.:.:0,120,1800:.	6	0	1	0
chr1	16760445	16760446	AC	-	exonic	MST1L	.	frameshift deletion	MST1L:NM_001271733:exon4:c.383_384del:p.R128Qfs*3	.	382	1066	74	0	0	74	0.0335449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0107	0.0089	0.0060	0	0.0183	0.0139	0.0127	0.0041	0.001191	31	26028	rs748266310	0.0014	0.0085	0.0015	0.0013	0.0023	0.0013	0.0013	0.0015	0.0015	0.0003	0.0002	0.0007	0	0.0027	0.0023	0.0016	0.0010	0.0005	0.0008	0.0060	0.0008	0.0009	0.0011	0.0007	0.0007	0.0009	0.0008	0.0003	0	0.0009	0.0009	0	0.0015	0	0.0011	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	333.4	119	chr1	16760444	.	TAC	T	333.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.1;DP=604;ExcessHet=0;FS=4.615;MLEAC=1;MLEAF=0.071;MQ=40.55;MQRankSum=0.648;QD=3.03;ReadPosRankSum=1.06;SOR=1.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:180,0:180:99:.:.:0,120,1800:.	6	0	1	0
chr1	16760446	16760446	C	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.G383A:p.R128H	.	392	526	598	0	6	604	0.362424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	.	.	0.181909	0.2202	0.1841	0.2823	0.2424	0.2980	0.2226	0.2165	0.1673	0.0075808	1172	154602	rs28462251	1.288e-05	8.414e-05	1.139e-05	1.438e-05	8.359e-05	8.05e-06	6.64e-06	3.866e-05	2.726e-05	0	0	0	2.565e-05	9.971e-05	0	3.769e-06	1.724e-05	8.359e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0001	0.0001	9.611e-05	7.423e-05	0.0002	0	0	0	0	0.0009	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	2844.02	141	chr1	16760446	.	C	T	2844.02	.	AC=6;AF=0.429;AN=14;BaseQRankSum=2.82;DP=799;ExcessHet=8.2628;FS=21.558;MLEAC=6;MLEAF=0.429;MQ=46.08;MQRankSum=-0.253;QD=4.21;ReadPosRankSum=1.1;SOR=2.08	GT:AD:DP:GQ:PL	0/1:181,65:246:99:1238,0,4733	1	0	6	0
chr1	16760785	16760785	G	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon3:c.C304A:p.R102S	.	351	1167	1	0	3	4	0.000428266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs750286755	1.027e-05	3.352e-05	5.448e-06	1.513e-05	1.349e-05	6.17e-06	4.89e-06	8.1e-06	6.42e-06	0	0	0	0	0	0	1.349e-05	0	0	1.32e-05	1.315e-05	0	2.703e-05	2.455e-05	2.19e-06	8.2e-07	.	.	2.455e-05	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1035.44	219	chr1	16760785	.	G	T	1035.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.44;DP=1635;ExcessHet=0;FS=3.678;MLEAC=1;MLEAF=0.071;MQ=56.14;MQRankSum=0.253;QD=4.71;ReadPosRankSum=-0.173;SOR=0.466	GT:AD:DP:GQ:PL	0/0:451,0:451:99:0,120,1800	6	0	1	0
chr1	16760848	16760848	G	C	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon3:c.C241G:p.H81D	.	321	1179	22	0	0	22	0.0092437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	.	.	0.0022	0.0031	0.0012	0	0.0029	0.0027	0.0011	0.0013	0.0023609	365	154602	rs186420363	6.955e-05	0.0005	6.712e-05	7.2e-05	0.0007	5.818e-05	5.427e-05	0.0005	0.0004	0.0007	2.291e-05	0	0	1.894e-05	0	4.791e-05	5.004e-05	0.0002	0.0002	0.0014	0.0002	0.0002	0.0006	0.0002	0.0001	0.0004	0.0004	0.0006	0	6.575e-05	0.0006	0	0.0002	0	2.955e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	937.24	262	chr1	16760848	.	G	C	937.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.747;DP=1967;ExcessHet=0.3476;FS=4.031;MLEAC=2;MLEAF=0.143;MQ=57.75;MQRankSum=-6.867;QD=1.11;ReadPosRankSum=2.16;SOR=1.132	GT:AD:DP:GQ:PL	0/1:494,70:564:99:445,0,14634	5	0	2	0
chr1	16954753	16954753	C	A	exonic	CROCC	.	nonsynonymous SNV	CROCC:NM_014675:exon23:c.C3341A:p.T1114K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0294068339509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.30800	T	0.758	0.04669	T	.	.	.	.	.	.	.	.	.	.	0.999402	0.21245	N	.	.	.	0.75	0.50192	T	-1.85	0.43334	N	0.561	0.58543	-1.0231	0.22704	T	0.108	0.39123	T	9	0.22316289	0.39087	T	0.029407	0.51922	D	0.074	0.21613	0.178	0.08503	0.448300063881	0.44449	0.4451101163589065	0.44429	0.56611518488	0.52918	0.58948802948	0.51422	T	.	.	.	-0.158687	0.26963	T	-0.465719	0.25978	T	0.345044641998152	0.26823	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.47027	B	.	.	1.032934	0.14128	10.70	0.94932878457541037	0.25820	0.21952	0.21581	N	AEFBI	0.067587	0.13294	N	-0.708768819774528	0.15775	0.7979465	-0.750998616940875	0.15698	0.8268888	0.00628692253234047	0.11177	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	4.4	2.52	0.29514	-0.245000	0.08908	-0.235000	0.10642	-0.205000	0.08568	0.000000	0.06391	0.000000	0.08366	0.086000	0.17578	0.0:0.7036:0.0:0.2964	7.072	0.24360	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	37	chr1	16954753	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=193;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1129	6	1	0	0
chr1	17044783	17044783	T	C	exonic	SDHB	.	nonsynonymous SNV	SDHB:NM_003000:exon2:c.A178G:p.T60A	Cowden syndrome 2, Autosomal dominant;Gastrointestinal stromal tumor, Autosomal dominant, Isolated cases;Paraganglioma and gastric stromal sarcoma;Paragangliomas 4, Autosomal dominant;Pheochromocytoma, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	238187	Gastrointestinal_stromal_tumor|not_provided|Paragangliomas_4|Pheochromocytoma|SDHB-related_disorder|Carney-Stratakis_syndrome|Cowden_syndrome|Hereditary_cancer-predisposing_syndrome|not_specified|Hereditary_pheochromocytoma-paraganglioma	Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890|MedGen:C3661900|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310,Orphanet:29072|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|MedGen:CN239418|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864,Orphanet:97286|MONDO:MONDO:0016063,MedGen:C0018553,OMIM:PS158350,Orphanet:201|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0017366,MedGen:C1708353,Orphanet:29072	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.845	0.342984829718	0.0002	.	7.414e-05	0	0	0	0	0.0001	0	0	6.47e-05	10	154602	rs34599281	9.988e-05	9.987e-05	9.938e-05	0.0001	0.0001	8.646e-05	8.134e-05	0.0001	9.768e-05	5.974e-05	0	0	0	0	0	0.0001	4.968e-05	6.956e-05	6.57e-05	6.567e-05	3.854e-05	9.412e-05	0.0003	3.516e-05	2.616e-05	0.0001	8.291e-05	0	0	0.0003	0	0	0	0	7.35e-05	0	0	0.023	0.48186	D	0.122	0.47581	T	0.001	0.07471	B	0.005	0.11217	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.685	0.78553	M	-5.16	0.98796	D	-2.12	0.48184	N	0.862	0.85872	0.936	0.96183	D	0.934	0.97826	D	10	0.67948496	0.71193	D	0.342985	0.92065	D	0.845	0.95175	.	.	0.983091551675	0.98290	0.6323818218709532	0.63172	0.173623914911	0.19547	0.53711026907	0.44037	T	0.784768	0.94350	D	0.222567	0.76019	D	0.307627	0.88546	D	0.233980460552231	0.22140	T	0.974802	0.91047	D	0.43043634	0.62780	0.33751005	0.59540	0.42033783	0.62115	0.3684294	0.62133	-9.051	0.68025	D	0.2740677902587844	0.36822	0.114	0.24733	B	.;.;.	.;.;.	3.784237	0.54430	23.5	0.99376413964294741	0.61671	0.97498	0.75138	D	AEFDBI	0.876760	0.80096	D	0.240035330793247	0.53149	3.485047	0.373105705437549	0.59912	4.173247	0.999999999991865	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	7.242000	0.77660	7.833000	0.70197	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:0.0:1.0	14.843	0.69869	835	0.38313	Succinate dehydogenase/fumarate reductase N-terminal|2Fe-2S ferredoxin-type iron-sulfur binding domain|2Fe-2S ferredoxin-type iron-sulfur binding domain;Succinate dehydogenase/fumarate reductase N-terminal|2Fe-2S ferredoxin-type iron-sulfur binding domain|2Fe-2S ferredoxin-type iron-sulfur binding domain;Succinate dehydogenase/fumarate reductase N-terminal|2Fe-2S ferredoxin-type iron-sulfur binding domain|2Fe-2S ferredoxin-type iron-sulfur binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.1429	4693.26	34	chr1	17044783	.	T	C	4693.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.49;DP=577;ExcessHet=0.3476;FS=3.214;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=1.2;SOR=0.791	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	5	0	2	0
chr1	17228690	17228690	C	T	exonic	PADI1	.	stopgain	PADI1:NM_013358:exon7:c.C718T:p.R240X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0001	0.0004	0	0.0001	0	0.0001	0	0.0001	0.0001164	18	154602	rs199756034	9.714e-05	9.713e-05	9.121e-05	0.0001	0.0003	8.377e-05	7.916e-05	0.0002	0.0001	0.0003	0	0.0001	2.519e-05	0	0	9.353e-05	9.935e-05	0.0002	0.0001	0.0001	0.0001	9.415e-05	0.0001	6.511e-05	5.322e-05	4.764e-05	3.338e-05	0.0001	0	0.0001	0	0	9.418e-05	0	0.0001	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000371	0.45194	D	0.156539	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.111	0.09772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143248	0.68632	D	0.284145	0.87348	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.361045	0.96436	36	0.99687657107176353	0.79708	0.15835	0.19104	N	AEFDBI	0.044872	0.07272	N	0.272268073945642	0.54747	3.639645	-0.0461669625019176	0.37656	2.207791	0.185735816255245	0.17934	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.83	3.88	0.43959	0.507000	0.22383	0.347000	0.17439	0.596000	0.33519	0.026000	0.20160	0.020000	0.20764	0.143000	0.20056	0.1998:0.7:0.0:0.1002	5.894	0.18171	754	0.51307	Protein-arginine deiminase (PAD), central domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	705.44	76	chr1	17228690	.	C	T	705.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.39;DP=274;ExcessHet=0;FS=3.097;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.28;ReadPosRankSum=0.083;SOR=0.699	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,108,1620	6	0	1	0
chr1	17363711	17363711	C	A	exonic	PADI4	.	nonsynonymous SNV	PADI4:NM_012387:exon16:c.C1948A:p.R650S	.	397	1116	8	1	0	10	0.0044603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.0641725735064	0.0011	0.000998403	0.0009	0.0002	0.0002	0	0	0.0014	0.0011	0.0005	0.0008667	134	154602	rs147723249	0.0011	0.0011	0.0011	0.0011	0.0071	0.0010	0.0010	0.0054	0.0048	0.0003	0.0004	0.0058	0	1.872e-05	0.0071	0.0011	0.0020	0.0005	0.0009	0.0009	0.0009	0.0009	0.0014	0.0008	0.0007	0.0009	0.0008	0.0003	0	0.0014	0.0066	0	0	0.0034	0.0011	0.0038	0.0002	0.003	0.68238	D	0.005	0.72224	D	0.911	0.50336	P	0.488	0.47288	P	0.000086	0.51296	D	0.135856	0.71375	0.33545	D	3.35	0.91085	M	1.39	0.33842	T	-5.07	0.82830	D	0.664	0.67304	-0.6742	0.61638	T	0.117	0.41320	T	10	0.030071408	0.01133	T	0.064173	0.69195	D	0.186	0.46104	.	.	0.475034548194	0.47131	0.790082007336491	0.78960	0.544487186864	0.51500	0.446297347546	0.31439	T	0.266909	0.63889	T	-0.346734	0.04935	T	-0.311369	0.43511	T	0.117445082606305	0.14177	T	.	.	.	0.8206069	0.85261	0.58577144	0.75978	0.8206069	0.85262	0.58577144	0.75978	-9.608	0.71529	D	.	.	0.540	0.66364	A	.	.	4.455739	0.69304	25.4	0.99623209956037773	0.75533	0.95497	0.64956	D	AEFGBI	0.711918	0.66521	D	0.388192528819323	0.60782	4.270988	0.299905922207495	0.55533	3.716378	0.998152924204491	0.36500	0.549168	0.22868	0	0.627178	0.54094	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	4.68	2.8	0.31881	3.842000	0.55567	2.673000	0.33962	0.599000	0.40250	1.000000	0.71638	0.994000	0.32194	0.895000	0.43227	0.1505:0.7432:0.0:0.1063	7.274	0.25449	668	0.61153	Protein-arginine deiminase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.005051	0.010870	0.005848	0.000000	0.034483	0.000000	0.000000	0.07143	1449.44	34	chr1	17363711	.	C	A	1449.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.23;DP=314;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-0.736;SOR=0.648	GT:AD:DP:GQ:PL	0/1:72,58:130:99:1460,0,1641	6	0	1	0
chr1	17438267	17438267	A	G	exonic	RCC2	.	nonsynonymous SNV	RCC2:NM_001136204:exon1:c.T248C:p.V83A,RCC2:NM_018715:exon2:c.T248C:p.V83A	.	359	1149	14	0	0	14	0.00605536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0013	0.00219649	0.0045	0.0006	0.0016	0.0002	0.0047	0.0041	0	0.0126	0.0022057	341	154602	rs200660338	0.0028	0.0027	0.0027	0.0030	0.0087	0.0027	0.0027	0.0080	0.0078	0.0005	0.0007	0	5.18e-05	0.0033	0.0051	0.0027	0.0019	0.0087	0.0023	0.0023	0.0021	0.0026	0.0107	0.0021	0.0020	0.0083	0.0075	0.0005	0	0.0007	0	0	0.0033	0	0.0034	0.0024	0.0107	0.369	0.11586	T	0.806	0.03993	T	0.0	0.02946	B	0.0	0.01387	B	0.774214	0.09523	N	0.852017	0.99918	0.21543	N	1.085	0.27262	L	1.33	0.35031	T	0.39	0.03521	N	0.1	0.09207	-0.9890	0.32853	T	0.048	0.20395	T	10	0.0034547746	0.00061	T	.	.	.	0.014	0.01968	.	.	0.043077524339	0.03247	0.19436126816134353	0.19354	1.63069660363	0.89218	0.824599742889	0.85735	D	0.032243	0.22400	T	-0.593608	0.00159	T	-0.619762	0.11204	T	0.00438792510085257	0.00047	T	.	.	.	0.03901998	0.05308	0.058205187	0.10716	0.03901998	0.05307	0.058205187	0.10716	-4.199	0.26737	T	.	.	0.183	0.39630	B	.;.	.;.	1.998206	0.25390	16.74	0.90359611567091214	0.19623	0.01159	0.04181	N	AEFDBHCIJ	0.040281	0.05971	N	-1.05091254641253	0.07569	0.3520919	-1.017522591387	0.09400	0.4674583	0.999999990127784	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	2.93	1.77	0.23848	-0.224000	0.09169	3.445000	0.38408	0.441000	0.21086	0.000000	0.06391	0.990000	0.31317	0.530000	0.29707	0.8561:0.0:0.1439:0.0	5.965	0.18553	850	0.35610	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	614.27	33	chr1	17438267	.	A	G	614.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.465;DP=215;ExcessHet=0;FS=1.021;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=0.392;SOR=0.551	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1028	5	0	1	1
chr1	18227930	18227930	C	T	exonic	IGSF21	.	nonsynonymous SNV	IGSF21:NM_032880:exon2:c.C103T:p.P35S	.	.	.	.	.	.	.	.	.	.	.	2385366	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.284	0.0379712958007	.	.	5.766e-05	0	8.637e-05	0	0	7.492e-05	0	6.056e-05	5.17e-05	8	154602	rs150336992	6.43e-05	6.43e-05	6.671e-05	6.188e-05	0.0002	5.361e-05	4.976e-05	6.234e-05	5.739e-05	2.987e-05	6.708e-05	0	0	0	0.0002	7.554e-05	6.624e-05	1.16e-05	3.286e-05	3.283e-05	1.285e-05	5.382e-05	5.879e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	2.413e-05	0	0	0	0	0	0	5.879e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.62929	D	0.000000	0.999999	0.58761	D	2.365	0.68172	M	0.49	0.55775	T	-1.05	0.27463	N	0.748	0.74735	-0.6637	0.62113	T	0.289	0.66084	T	10	0.82294214	0.81488	D	0.037971	0.57939	D	0.284	0.60219	0.512	0.61000	0.694970612564	0.69234	0.6783252565757172	0.67771	0.884775936026	0.69930	0.671310186386	0.63025	T	0.038423	0.24835	T	-0.0447645	0.45241	T	-0.0763758	0.65167	T	0.330641955137253	0.26250	T	0.912209	0.68770	D	0.320655	0.54696	0.29962823	0.55997	0.320655	0.54696	0.29962823	0.55996	-6.873	0.53100	T	.	.	0.228	0.46013	B	.	.	4.752699	0.76759	26.6	0.99926133650025362	0.99103	0.95659	0.65613	D	AEFDBI	0.684789	0.64702	D	0.480470928606266	0.65951	4.887501	0.430495518153291	0.63474	4.581775	0.999999963337661	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.28	5.28	0.74118	7.025000	0.76187	7.630000	0.62690	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.092000	0.17891	0.0:1.0:0.0:0.0	14.452	0.66969	973	0.05605	Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2679.44	50	chr1	18227930	.	C	T	2679.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.83;DP=427;ExcessHet=0;FS=0.493;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-0.417;SOR=0.641	GT:AD:DP:GQ:PL	0/1:109,110:219:99:2690,0,2461	6	0	1	0
chr1	18877457	18877457	C	T	exonic	ALDH4A1	.	nonsynonymous SNV	ALDH4A1:NM_001161504:exon10:c.G916A:p.G306R,ALDH4A1:NM_001319218:exon10:c.G1096A:p.G366R,ALDH4A1:NM_003748:exon10:c.G1096A:p.G366R,ALDH4A1:NM_170726:exon10:c.G1096A:p.G366R	Hyperprolinemia, type II, Autosomal recessive	0	1453	65	4	0	73	0.0245049	.	.	.	690430	not_provided|Hyperprolinemia_type_2	MedGen:C3661900|MONDO:MONDO:0009401,MedGen:C2931835,OMIM:239510,Orphanet:79101	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.038	.	0.001	0.00179712	0.0075	0.0005	0.0055	0	0.0012	0.0062	0.0065	0.0170	0.0027813	430	154602	rs41306567	0.0022	0.0022	0.0018	0.0026	0.0133	0.0021	0.0021	0.0127	0.0124	0.0004	0.0016	0.0032	2.573e-05	0.0001	0.0094	0.0015	0.0027	0.0133	0.0017	0.0017	0.0014	0.0020	0.0110	0.0015	0.0015	0.0086	0.0078	0.0004	0	0.0029	0.0014	0	0	0.0102	0.0020	0.0028	0.0110	0.133	0.26409	T	0.135	0.36901	T	0.001	0.07471	B	0.009	0.14300	B	0.663870	0.10403	N	0.849423	0.791045	0.34620	D	0.155	0.08919	N	1.59	0.28836	T	0.42	0.05503	N	0.32	0.38027	-1.0269	0.21462	T	0.044	0.18742	T	10	0.007830828	0.00178	T	.	.	.	0.038	0.09825	0.412	0.44887	0.262662153117	0.25859	0.688120731099813	0.68752	0.164871079818	0.18598	0.291973412037	0.09209	T	0.055247	0.29952	T	-0.505176	0.00534	T	-0.487396	0.23664	T	0.0081906171203606	0.00098	T	0.831217	0.49813	T	0.22828704	0.45545	0.15461615	0.36279	0.23813418	0.46687	0.12986113	0.31215	-3.624	0.35202	T	.	.	0.141	0.30971	B	.;.;.;.	.;.;.;.	2.596631	0.33695	19.42	0.98291500001102539	0.39954	0.80761	0.40317	D	AEFBI	0.355282	0.44707	N	-0.584069613298834	0.19427	1.016747	-0.409398648436248	0.24722	1.355339	0.17949397804824	0.17851	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.52	2.65	0.30588	1.723000	0.37675	2.747000	0.34506	-0.193000	0.09282	0.999000	0.42656	0.998000	0.33993	0.915000	0.45038	0.0:0.8248:0.0:0.1752	9.567	0.38570	952	0.10565	Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014691	0.010417	0.010899	0.020468	0.000000	0.008621	0.012270	0.026515	0.07143	2332.44	35	chr1	18877457	.	C	T	2332.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.868;DP=405;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=2.47;SOR=0.708	GT:AD:DP:GQ:PL	0/1:98,101:199:99:2343,0,2221	6	0	1	0
chr1	19105073	19105073	G	A	exonic	UBR4	.	nonsynonymous SNV	UBR4:NM_020765:exon85:c.C12620T:p.P4207L	.	431	1085	6	0	0	6	0.00275735	.	.	.	2355704	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.335	0.0240312273225	0.0002	.	0.0002	0	8.642e-05	0	0	0.0003	0.0011	0.0006	0.000194	30	154602	rs148444542	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	0.0001	0.0007	0.0006	0	4.473e-05	0	0	0	0.0010	0.0001	0.0003	0.0008	0.0001	0.0001	0.0001	0.0001	0.0002	7.098e-05	5.753e-05	0.0001	9.902e-05	2.416e-05	0	6.549e-05	0	0	0	0	0.0002	0	0.0002	0.202	0.20230	T	.	.	.	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.285	0.32305	L	-0.05	0.63403	T	-2.35	0.51968	N	0.947	0.95491	-0.7310	0.58913	T	0.295	0.66650	T	10	0.71352094	0.73197	D	0.024031	0.47011	T	0.335	0.65718	.	.	0.253981072376	0.25009	0.724843149983118	0.72428	1.81973249962	0.91917	0.883346557617	0.94407	D	0.497407	0.81929	T	0.0471585	0.57975	T	0.201049	0.83184	D	0.230331629514694	0.21967	T	0.965203	0.87125	D	0.15293342	0.34691	0.2481625	0.50361	0.15293342	0.34690	0.2481625	0.50360	-4.21	0.26896	T	.	.	0.266	0.49997	B	.	.	4.445480	0.69058	25.3	0.99830323202053506	0.91198	0.99347	0.94827	D	AEFDBI	0.898847	0.84258	D	0.683604945614512	0.78559	6.895954	0.764090145960858	0.87208	9.142811	0.999999999977927	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	9.602000	0.97623	11.851000	0.98077	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.443	0.94824	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	782.44	73	chr1	19105073	.	G	A	782.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.796;DP=254;ExcessHet=0;FS=4.744;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=1.85;SOR=1.329	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr1	19164314	19164314	C	T	exonic	UBR4	.	nonsynonymous SNV	UBR4:NM_020765:exon33:c.G4639A:p.A1547T	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.0253352765496	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	.	.	.	0.993	0.65571	D	0.971	0.72444	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.935	0.51832	L	-0.3	0.67874	T	-2.79	0.65397	D	0.665	0.67391	-0.3281	0.74188	T	0.414	0.76157	T	10	0.48969483	0.60918	T	0.025335	0.48313	D	0.325	0.64725	0.336	0.32491	0.110392049598	0.10638	0.47334405582799405	0.47253	0.561454484372	0.52650	0.787430286407	0.80051	T	0.564212	0.85463	D	0.165022	0.70665	D	-0.000734061	0.70288	D	0.90873357406089	0.56341	D	0.974303	0.90829	D	0.31055447	0.53834	0.3525155	0.60828	0.31055447	0.53834	0.3525155	0.60827	-4.089	0.25128	T	.	.	0.469	0.63114	A	.;.	.;.	4.223573	0.63901	24.6	0.99911974898241873	0.98095	0.98702	0.85770	D	AEFBI	0.772165	0.70657	D	0.748542258922318	0.82808	7.855539	0.780987847867347	0.88440	9.583402	0.999999999999966	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	7.288000	0.78051	7.632000	0.62779	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.818	0.96574	846	0.36215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	993.63	93	chr1	19164314	.	C	T	993.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.447;DP=279;ExcessHet=0;FS=6.692;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=0.823;SOR=1.345	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr1	19328604	19328604	C	A	exonic	SLC66A1	.	nonsynonymous SNV	SLC66A1:NM_001040125:exon8:c.C837A:p.S279R,SLC66A1:NM_001040126:exon8:c.C642A:p.S214R,SLC66A1:NM_001287531:exon8:c.C504A:p.S168R,SLC66A1:NM_017765:exon9:c.C837A:p.S279R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0115647526479	.	.	.	.	.	.	.	.	.	.	.	.	.	rs369719745	4.106e-06	4.104e-06	2.723e-06	5.502e-06	0.0007	1.48e-06	9.7e-07	0.0002	0.0001	0	0	0	0	0	0.0007	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.671	0.04972	T	0.577	0.08594	T	0.001	0.07471	B	0.002	0.06944	B	0.001838	0.00831	N	3.569320	1	0.08975	N	-0.165	0.04321	N	0.95	0.43279	T	0.86	0.01712	N	0.07	0.04668	-1.0365	0.18388	T	0.041	0.17827	T	10	0.047382593	0.04049	T	0.011565	0.29307	T	0.034	0.08419	0.285	0.24280	0.0401082797425	0.02173	0.1925835515514406	0.19176	0.370308150462	0.38557	0.323748767376	0.13988	T	5.48E-4	0.00213	T	-0.325336	0.06471	T	-0.705099	0.05551	T	0.0232902018690882	0.01058	T	0.309069	0.05976	T	0.034885142	0.04001	0.04276932	0.05169	0.034885142	0.04001	0.04276932	0.05168	-1.586	0.02175	T	.	.	0.102	0.19398	B	.;.;.	.;.;.	-0.907850	0.00913	0.034	0.45049599839420429	0.03508	0.13210	0.17726	N	AEFDBHCI	0.110047	0.21836	N	-1.4607744730251	0.02133	0.09388027	-1.48206724774874	0.02491	0.1146667	0.999378985087686	0.39355	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.02	-2.83	0.05425	-3.150000	0.00643	-4.193000	0.02289	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2225:0.3899:0.3875	5.066	0.13919	602	0.67834	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	527.49	34	chr1	19328604	.	C	A	527.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.672;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-0.248;SOR=0.665	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1291	6	0	1	0
chr1	20323486	20323486	T	C	exonic	VWA5B1	.	nonsynonymous SNV	VWA5B1:NM_001039500:exon8:c.T1097C:p.I366T,VWA5B1:NM_001377531:exon8:c.T782C:p.I261T	.	426	1058	38	0	0	38	0.0176416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	.	0.0007	0.00299521	0.0070	0	0.0054	0	0	0.0015	0.0045	0.0195	0.0011319	175	154602	rs201370343	0.0013	0.0013	0.0009	0.0018	0.0155	0.0013	0.0013	0.0147	0.0144	0.0002	0.0006	0.0018	2.981e-05	2.044e-05	0.0092	0.0004	0.0019	0.0155	0.0009	0.0009	0.0004	0.0013	0.0162	0.0008	0.0007	0.0133	0.0122	4.813e-05	0	0.0012	0.0020	0	9.413e-05	0.0102	0.0004	0	0.0162	0.004	0.65419	D	0.003	0.76473	D	0.998	0.73220	D	0.983	0.75793	D	0.136158	0.18456	N	0.577246	0.977751	0.39397	D	3.495	0.92709	M	2.27	0.17431	T	-3.65	0.69950	D	0.831	0.83371	-0.7681	0.56962	T	0.151	0.47909	T	10	0.017407864	0.00371	T	.	.	.	0.279	0.59619	.	.	0.194818534648	0.19098	0.6890989978460175	0.68849	.	.	0.417895138264	0.27547	T	0.207884	0.56765	T	-0.243124	0.14954	T	-0.109033	0.62689	T	0.119954450924033	0.14425	T	0.884312	0.60710	D	0.43381843	0.63001	0.47718886	0.69710	0.43381843	0.63002	0.47718886	0.69711	-10.769	0.78471	D	.	.	0.221	0.48664	B	.;.	.;.	4.562828	0.71921	25.7	0.99806278955853256	0.89085	0.96560	0.69751	D	AEFDBHCIJ	0.834283	0.75235	D	0.596985983387991	0.72985	5.892872	0.541148797261749	0.70784	5.556301	0.999999999999452	0.74766	0.608966	0.35542	0	0.681609	0.65952	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.44	5.44	0.79348	7.273000	0.77921	7.906000	0.73790	0.665000	0.62972	0.972000	0.34453	0.994000	0.32194	0.983000	0.59808	0.0:0.0:0.0:1.0	14.306	0.65941	917	0.20147	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005995	0.000000	0.000000	0.004310	0.000000	0.000000	0.011111	0.012500	0.07143	1235.83	34	chr1	20323486	.	T	C	1235.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.461;DP=286;ExcessHet=0;FS=0.798;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=0.579;SOR=0.559	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1350	6	0	1	0
chr1	20744913	20744913	T	G	exonic	HP1BP3	.	nonsynonymous SNV	HP1BP3:NM_001376792:exon12:c.A1432C:p.I478L,HP1BP3:NM_001376793:exon12:c.A1432C:p.I478L,HP1BP3:NM_001376794:exon12:c.A1432C:p.I478L,HP1BP3:NM_001372052:exon13:c.A1546C:p.I516L,HP1BP3:NM_001376787:exon13:c.A1546C:p.I516L,HP1BP3:NM_001376788:exon13:c.A1546C:p.I516L,HP1BP3:NM_001376789:exon13:c.A1546C:p.I516L,HP1BP3:NM_001376790:exon13:c.A1546C:p.I516L,HP1BP3:NM_001376791:exon13:c.A1432C:p.I478L,HP1BP3:NM_016287:exon13:c.A1546C:p.I516L	.	432	1039	48	3	0	54	0.0253283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	0.0062	0.0061901	0.0088	0.0006	0.0046	0	0.0080	0.0092	0.0143	0.0203	0.0082276	1272	154602	rs143662289	0.0073	0.0073	0.0066	0.0080	0.0376	0.0072	0.0072	0.0335	0.0319	0.0008	0.0043	0.0202	5.038e-05	0.0072	0.0376	0.0063	0.0082	0.0211	0.0062	0.0062	0.0058	0.0065	0.0199	0.0058	0.0057	0.0167	0.0155	0.0007	0	0.0077	0.0207	0.0002	0.0066	0.0238	0.0079	0.0061	0.0199	0.032	0.50132	D	0.275	0.26549	T	0.009	0.15093	B	0.004	0.10090	B	0.069032	0.21632	N	0.564340	0.687198	0.37141	D	1.445	0.36358	L	0.94	0.43672	T	-0.12	0.08809	N	0.325	0.36569	-1.0901	0.05515	T	0.052	0.22192	T	10	0.0046370924	0.00097	T	.	.	.	0.084	0.24469	.	.	0.374666004776	0.37081	0.10056419101934105	0.09987	0.412663807226	0.42000	0.467990338802	0.34404	T	0.110325	0.42492	T	-0.493097	0.00625	T	-0.46482	0.26076	T	0.0173872481172747	0.00476	T	0.848015	0.52922	T	0.07862429	0.17917	0.06862366	0.14354	0.07862429	0.17916	0.06862366	0.14353	-2.562	0.06220	T	.	.	0.074	0.08417	B	.;.	.;.	2.015459	0.25613	16.82	0.97495809088178342	0.34267	0.93837	0.59334	D	AEFBI	0.271324	0.38720	N	-0.220604252172807	0.32289	1.819389	-0.0400367515107408	0.37925	2.227194	0.99949691020627	0.40007	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	4.37	0.51830	2.547000	0.45446	3.359000	0.37844	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1515:0.0:0.8485	8.529	0.32485	861	0.33516	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020141	0.010101	0.014946	0.035088	0.000000	0.025862	0.024390	0.011364	0.07143	1154.53	33	chr1	20744913	.	T	G	1154.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.54;DP=293;ExcessHet=0;FS=1.559;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=1.59;SOR=0.507	GT:AD:DP:GQ:PL	0/1:60,49:109:99:1165,0,1399	6	0	1	0
chr1	20840925	20840925	T	C	exonic	EIF4G3	.	nonsynonymous SNV	EIF4G3:NM_003760:exon25:c.A3824G:p.D1275G,EIF4G3:NM_001198801:exon28:c.A3932G:p.D1311G,EIF4G3:NM_001198802:exon28:c.A3842G:p.D1281G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.553	0.0492069888906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.014	0.69154	D	0.987	0.61912	D	0.872	0.61918	P	0.000034	0.55875	D	0.156120	1	0.81001	D	2.14	0.59869	M	0.88	0.46028	T	-4.23	0.75935	D	0.811	0.80669	-0.7467	0.58107	T	0.198	0.55372	T	10	0.7871782	0.78347	D	0.049207	0.63711	D	0.553	0.81544	0.648	0.78542	0.652031612068	0.64913	0.9120386741325136	0.91177	1.59795291068	0.88644	0.750259697437	0.74485	T	0.26307	0.63472	T	0.175369	0.71617	D	0.0141294	0.71249	D	0.990575015544891	0.80798	D	0.89741	0.64114	D	0.5529422	0.70119	0.46978855	0.69251	0.5529422	0.70120	0.46978855	0.69252	-10.443	0.76525	D	.	.	0.588	0.71156	P	.;.;.;.;.	.;.;.;.;.	4.902795	0.80603	27.4	0.9986596622725421	0.94366	0.96700	0.70473	D	ALL	0.909450	0.86609	D	0.55507393994833	0.70392	5.494729	0.585448722942904	0.73896	6.04603	0.999999999999955	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.48	5.48	0.80675	7.585000	0.81876	7.819000	0.69683	0.502000	0.22824	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	15.558	0.75953	757	0.50970	.;Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3;.;Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3;Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3|Initiation factor eIF-4 gamma, MA3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	36	chr1	20840925	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	6	1	0	0
chr1	21823354	21823354	C	T	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon97:c.G13141A:p.A4381T,HSPG2:NM_005529:exon97:c.G13138A:p.A4380T	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1388111	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.338	0.0645309682787	.	.	.	.	.	.	.	.	.	.	.	.	.	rs779453903	2.299e-05	2.463e-05	2.981e-05	1.6e-05	0.0018	1.664e-05	1.424e-05	0.0010	0.0007	3.144e-05	0	0	0	0	0.0018	1.851e-05	0	1.255e-05	1.971e-05	1.97e-05	3.853e-05	0	6.54e-05	5.24e-06	2.45e-06	7.99e-06	2.99e-06	4.823e-05	0	6.54e-05	0	0	0	0	0	0	0	0.01	0.56456	D	0.004	0.74150	D	0.872	0.47902	P	0.131	0.32951	B	0.044685	0.23612	N	0.210372	0.999162	0.81001	D	3.1	0.87590	M	-1.07	0.76948	T	-2.3	0.51157	N	0.091	0.06990	0.118	0.84500	D	0.451	0.78544	T	10	0.33827764	0.50936	T	0.064531	0.69306	D	0.338	0.66010	0.239	0.17065	0.765113227815	0.76296	0.532719165393787	0.53196	0.2272339627	0.25277	0.590712726116	0.51595	T	0.697616	0.91264	D	0.0223543	0.54700	T	-0.205666	0.54109	T	0.83736127614975	0.49113	D	0.743326	0.36245	T	0.26864013	0.49936	0.18401366	0.41427	0.26864013	0.49936	0.18401366	0.41426	-4.628	0.32521	T	.	.	0.102	0.18037	B	.	.	3.323046	0.45711	22.2	0.99808780497836147	0.89264	0.93528	0.58462	D	AEFDBCI	0.572878	0.57628	D	0.477745354572165	0.65793	4.867377	0.487605171154779	0.67169	5.047997	0.999999999998529	0.74766	0.67177	0.52595	0	0.633656	0.55848	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.21	5.21	0.72005	4.185000	0.58128	1.271000	0.25291	0.599000	0.40250	0.999000	0.42656	0.703000	0.26245	0.836000	0.39433	0.0:1.0:0.0:0.0	16.261	0.82373	861	0.33516	Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	802.27	30	chr1	21823354	.	C	T	802.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.922;DP=206;ExcessHet=0;FS=2.387;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=1.25;SOR=0.399	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1026	5	0	1	1
chr1	21875656	21875656	G	A	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon25:c.C3278T:p.S1093F,HSPG2:NM_005529:exon25:c.C3275T:p.S1092F	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	4007259	Schwartz-Jampel_syndrome_type_1|Lethal_Kniest-like_syndrome	MONDO:MONDO:0100435,MedGen:C4551479,OMIM:255800|MONDO:MONDO:0009140,MedGen:C1857100,OMIM:224410,Orphanet:1865	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.482	0.0341689414806	.	.	8.257e-05	0	0	0	0	3.005e-05	0	0.0005	6.47e-05	10	154602	rs766686915	4.964e-05	4.994e-05	1.373e-05	8.587e-05	0.0008	4.024e-05	3.698e-05	0.0006	0.0006	0	0	0	0	0	0.0005	1.799e-06	3.315e-05	0.0008	3.282e-05	3.281e-05	0	6.713e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.002	0.72154	D	0.001	0.83351	D	0.999	0.77913	D	0.985	0.76457	D	0.001347	0.39310	N	0.000000	0.999843	0.49770	D	2.99	0.85699	M	1.11	0.38883	T	-3.7	0.70553	D	0.649	0.66016	-0.5657	0.66185	T	0.260	0.63055	T	10	0.82765937	0.81939	D	0.034169	0.55491	D	0.482	0.77206	0.76	0.88892	0.646850752827	0.64392	0.4483332132040094	0.44751	0.715118187512	0.61921	0.399305522442	0.24972	T	0.388358	0.74905	T	-0.193893	0.21688	T	-0.18833	0.55746	T	0.741529941558838	0.42819	D	0.793521	0.43550	T	0.35993147	0.57831	0.41163176	0.65389	0.35993147	0.57831	0.41163176	0.65389	-9.225	0.69134	D	.	.	0.620	0.69706	P	.	.	3.956886	0.58003	23.9	0.99767927926167632	0.85666	0.96637	0.70145	D	AEFDBCI	0.808694	0.73240	D	0.590210551267447	0.72562	5.825491	0.506976572858834	0.68460	5.222877	0.999999255203973	0.74766	0.67177	0.52595	0	0.610034	0.51514	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.44	5.44	0.79348	6.064000	0.70804	9.924000	0.82528	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.129000	0.19529	0.0:0.0:1.0:0.0	16.748	0.85340	800	0.44535	Laminin IV|Laminin IV|Laminin IV	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	963.46	35	chr1	21875656	.	G	A	963.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.728;DP=265;ExcessHet=0;FS=2.036;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.499;SOR=0.96	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485:.	6	0	1	0
chr1	22600995	22600995	G	A	exonic	EPHA8	.	nonsynonymous SNV	EPHA8:NM_020526:exon15:c.G2636A:p.R879Q	.	197	1307	16	2	0	20	0.00759301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.521	.	7.7e-05	0.00199681	0.0016	0.0002	0	0	0	9.17e-05	0.0011	0.0109	0.0013001	201	154602	rs146856523	0.0008	0.0008	0.0005	0.0011	0.0110	0.0008	0.0008	0.0104	0.0101	0.0002	2.237e-05	0	2.519e-05	0	0.0017	0.0001	0.0009	0.0110	0.0004	0.0004	0.0003	0.0005	0.0077	0.0003	0.0003	0.0057	0.0050	0.0001	0	0.0001	0	0	0	0	0.0002	0.0005	0.0077	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.84	0.60170	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.93	0.23535	L	0.05	0.61923	T	-3.46	0.67705	D	0.708	0.71143	-0.5120	0.68214	T	0.254	0.62405	T	10	0.010058045	0.00225	T	.	.	.	0.521	0.79643	.	.	0.760757338396	0.75857	0.7071151327060884	0.70653	0.781716362587	0.65334	0.516299307346	0.41105	T	0.427694	0.77708	T	-0.142486	0.29495	T	0.0319476	0.72404	D	0.103891183652948	0.12779	T	0.935906	0.76011	D	0.9257334	0.93811	0.84035295	0.90861	0.9257334	0.93812	0.84035295	0.90862	-9.541	0.71114	D	.	.	0.127	0.27131	B	.	.	5.829453	0.93732	33	0.99942727056674263	0.99848	0.99171	0.92276	D	AEFDBI	0.890407	0.82541	D	0.640841446732757	0.75777	6.366346	0.681327850170004	0.80961	7.417076	0.999999990208952	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	4.93	4.93	0.64394	10.003000	0.99689	8.670000	0.78005	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:0.0:1.0:0.0	16.866	0.85895	888	0.27761	Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.1429	119.55	36	chr1	22600995	.	G	A	119.55	.	AC=2;AF=0.143;AN=14;DP=220;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=23.91;SOR=1.022	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,113,1408	6	1	0	0
chr1	23429924	23429924	T	C	exonic	ASAP3	.	nonsynonymous SNV	ASAP3:NM_001143778:exon24:c.A2617G:p.I873V,ASAP3:NM_017707:exon25:c.A2644G:p.I882V	.	429	1082	10	1	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00360599328291	0.0003	0.000599042	0.0007	0	0.0002	0	0	0.0007	0.0012	0.0020	0.0006274	97	154602	rs200298634	0.0006	0.0006	0.0006	0.0007	0.0017	0.0006	0.0006	0.0015	0.0014	5.976e-05	0.0001	0	0	3.747e-05	0.0005	0.0007	0.0006	0.0017	0.0004	0.0004	0.0004	0.0004	0.0017	0.0003	0.0003	0.0008	0.0006	0.0001	0	0.0003	0	0	0	0.0034	0.0007	0	0.0017	0.323	0.13436	T	0.682	0.11004	T	0.0	0.02946	B	0.0	0.04355	B	0.058456	0.22401	N	0.432130	1	0.08975	N	-0.345	0.03330	N	2.2	0.50192	T	-0.09	0.12472	N	0.015	0.00372	-1.0530	0.13574	T	0.038	0.16290	T	10	0.0033171177	0.00057	T	0.003606	0.08247	T	0.021	0.04004	.	.	0.0666544352282	0.05500	0.05752855155460795	0.05693	0.185131698341	0.20815	0.285421729088	0.08260	T	0.003864	0.10257	T	-0.697368	0.00038	T	-0.781761	0.02400	T	0.0245197020729528	0.01211	T	.	.	.	0.016973324	0.00236	0.0239171	0.00405	0.016973324	0.00235	0.0239171	0.00405	-2.048	0.04254	T	.	.	0.076	0.10256	B	.;.;.;.	.;.;.;.	0.070159	0.04788	1.401	0.25102162823959401	0.01141	0.09895	0.15545	N	AEFDBI	0.058194	0.10901	N	-1.52000102078979	0.01718	0.07520685	-1.47473900628457	0.02553	0.1176181	0.673488405399345	0.22400	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.63	-4.73	0.03022	-0.177000	0.09789	-0.061000	0.12424	-0.627000	0.04526	0.720000	0.28821	0.030000	0.21233	0.858000	0.40661	0.3155:0.2432:0.0807:0.3606	1.397	0.02126	354	0.85282	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001014	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.1429	71.0	33	chr1	23429924	.	T	C	71.0	.	AC=2;AF=0.143;AN=14;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=23.67;SOR=1.179	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	6	1	0	0
chr1	23433520	23433520	G	T	exonic	ASAP3	.	nonsynonymous SNV	ASAP3:NM_001143778:exon20:c.C2005A:p.Q669K,ASAP3:NM_017707:exon21:c.C2032A:p.Q678K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00985848883655	0.0005	0.00119808	0.0001	0.0017	0	0	0	0	0	0	0.0001617	25	154602	rs146824903	5.609e-05	5.609e-05	7.078e-05	4.125e-05	0.0015	4.61e-05	4.236e-05	0.0011	0.0010	0.0015	0.0001	0	0	0	0.0002	0	0.0003	8.115e-05	0.0004	0.0004	0.0004	0.0003	0.0014	0.0003	0.0003	0.0011	0.0010	0.0014	0	6.535e-05	0	0	0	0	1.47e-05	0.0005	0	0.152	0.91255	T	0.113	0.92824	T	0.012	0.16265	B	0.005	0.11217	B	0.000185	0.48115	D	0.139269	0.944465	0.27774	N	0.235	0.09667	N	2.07	0.51952	T	-2.13	0.73893	N	0.274	0.39153	-1.0661	0.10293	T	0.042	0.18035	T	10	0.011561334	0.00252	T	0.009858	0.25698	T	0.143	0.38195	.	.	0.327419511103	0.32360	0.7436182616365998	0.74307	0.305292617041	0.32830	0.445156365633	0.31282	T	0.028518	0.52294	T	-0.382039	0.03025	T	-0.346176	0.39643	T	0.0322954799500465	0.02354	T	.	.	.	0.3538234	0.57363	0.19510314	0.43170	0.3538234	0.57363	0.19510314	0.43169	-8.104	0.61778	D	.	.	0.086	0.26886	B	.;.;.;.	.;.;.;.	3.773548	0.54214	23.5	0.98973296322248494	0.49580	0.97830	0.77447	D	AEFDBI	0.744362	0.68737	D	-0.264718569742509	0.30519	1.702552	-0.0275083392927854	0.38477	2.267497	0.969788785490945	0.29156	0.732398	0.92422	0	0.563428	0.19063	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.69	4.69	0.58546	5.321000	0.65627	8.292000	0.76919	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.8255:0.1745	11.895	0.51932	355	0.85216	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	875.46	33	chr1	23433520	.	G	T	875.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.471;DP=242;ExcessHet=0;FS=3.295;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.117;SOR=0.387	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1136	6	0	1	0
chr1	23437002	23437002	A	C	exonic	ASAP3	.	nonsynonymous SNV	ASAP3:NM_001143778:exon14:c.T1358G:p.I453S,ASAP3:NM_017707:exon15:c.T1385G:p.I462S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.611	0.178035052677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	2.052e-06	0	4.131e-06	0.0003	5.5e-07	1.5e-07	6.101e-05	2.525e-05	0	0	0	0	0	0.0003	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000211	0.47681	D	0.130163	1	0.81001	D	3.645	0.94141	H	0.79	0.49068	T	-5.4	0.85103	D	0.961	0.97095	-0.0568	0.81061	T	0.381	0.73759	T	10	0.9026201	0.89624	D	0.178035	0.85329	D	0.611	0.84773	0.685	0.82271	0.776415827642	0.77435	0.9545462357386822	0.95439	1.02274740666	0.75168	0.727809429169	0.71186	T	0.343619	0.71224	T	0.337735	0.85682	D	0.247357	0.85494	D	0.998827874660492	0.95280	D	.	.	.	0.9657808	0.97856	0.8644426	0.92483	0.9657808	0.97856	0.8644426	0.92484	-13.363	0.90803	D	.	.	0.938	0.85713	P	.;.	.;.	5.457753	0.91125	32	0.99482568035756247	0.66959	0.98757	0.86462	D	AEFDGBHCI	0.921087	0.89402	D	0.884282215831229	0.90969	10.652	0.789835465636361	0.89078	9.829544	0.999999999999327	0.74766	0.72623	0.87236	0	0.573888	0.26702	0	0.594344	0.31042	0	0.683762	0.67416	0	.	.	4.54	4.54	0.55220	9.317000	0.95419	10.826000	0.83861	0.573000	0.29008	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	13.131	0.58797	356	0.85138	Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.07143	441.44	45	chr1	23437002	.	A	C	441.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.026;DP=235;ExcessHet=0;FS=1.207;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=0.356;SOR=0.437	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1308	6	0	1	0
chr1	23874911	23874911	C	T	exonic	CNR2	.	nonsynonymous SNV	CNR2:NM_001841:exon2:c.G707A:p.R236Q	.	.	.	.	.	.	.	.	.	.	.	4121019	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.189	0.0243815532145	.	.	4.141e-05	0	0	0	0	7.519e-05	0	0	4.53e-05	7	154602	rs567833720	3.284e-05	3.283e-05	3.268e-05	3.301e-05	4.048e-05	2.544e-05	2.249e-05	3.085e-05	2.754e-05	0	0	0	2.519e-05	0	0	4.048e-05	1.657e-05	1.16e-05	2.628e-05	2.627e-05	1.284e-05	4.034e-05	4.825e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	1.47e-05	0.0005	0	0.524	0.07163	T	0.197	0.27855	T	0.58	0.38813	P	0.441	0.45749	B	0.002702	0.36068	N	0.272597	0.97282	0.38976	D	1.27	0.32069	L	-0.6	0.71662	T	-1.15	0.29525	N	0.168	0.17828	-0.6768	0.61520	T	0.297	0.66849	T	10	0.3781267	0.53988	T	0.024382	0.47367	T	0.189	0.46613	0.808	0.92512	0.749819313313	0.74755	0.6149671369410671	0.61428	.	.	0.322503864765	0.13800	T	0.11464	0.43262	T	-0.195716	0.21425	T	-0.388458	0.34731	T	0.213347882168529	0.21127	T	0.750425	0.37198	T	0.47634566	0.65678	0.31348586	0.57345	0.47634566	0.65678	0.31348586	0.57344	-5.142	0.38346	T	.	.	0.095	0.14842	B	.	.	3.188242	0.43307	21.7	0.98874955762860262	0.47719	0.68721	0.33909	D	AEFBHCI	0.265867	0.38290	N	0.132917192869045	0.48004	3.018324	0.250893601122229	0.52702	3.44313	0.999761040491546	0.42728	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.89	5.89	0.94758	1.495000	0.35236	3.967000	0.40794	0.599000	0.40250	0.785000	0.29533	1.000000	0.68203	0.992000	0.67800	0.0:0.9299:0.0:0.0701	14.419	0.66740	643	0.63827	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1772.44	71	chr1	23874911	.	C	T	1772.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.26;DP=610;ExcessHet=0;FS=0.604;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=-0.668;SOR=0.598	GT:AD:DP:GQ:PL	0/0:135,0:135:99:0,120,1800	6	0	1	0
chr1	24128186	24128186	C	A	exonic	IL22RA1	.	nonsynonymous SNV	IL22RA1:NM_021258:exon5:c.G625T:p.A209S	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	0.0097	0.0103834	0.0030	0.0302	0.0011	0	0	0.0002	0	0.0003	0.0027231	421	154602	rs34379702	0.0010	0.0010	0.0011	0.0009	0.0326	0.0009	0.0009	0.0309	0.0303	0.0326	0.0017	0	0	0	0.0016	8.969e-05	0.0026	0.0002	0.0088	0.0088	0.0092	0.0085	0.0303	0.0084	0.0083	0.0289	0.0284	0.0303	0	0.0035	0	0	0	0	0.0002	0.0080	0	1.0	0.00964	T	0.636	0.07059	T	0.0	0.02946	B	0.0	0.01387	B	0.724578	0.06333	N	1.148620	1	0.08975	N	-2.32	0.00092	N	3.26	0.06681	T	0.91	0.01595	N	0.042	0.01498	-0.9877	0.33175	T	0.003	0.00864	T	10	0.0032376647	0.00055	T	.	.	.	0.050	0.13987	.	.	0.130388298395	0.12655	0.3810081129846175	0.38015	0.101196432864	0.11446	0.378151714802	0.21993	T	0.016428	0.13584	T	-0.755356	0.00016	T	-0.835481	0.01169	T	0.00415863761613529	0.00044	T	0.162984	0.01479	T	0.12718405	0.29768	0.13873257	0.33124	0.12718405	0.29768	0.13873257	0.33123	-2.658	0.06957	T	.	.	0.067	0.02342	B	.	.	-0.061661	0.03875	0.843	0.56177987548287278	0.05497	0.00310	0.01640	N	AEFDBHCI	0.026703	0.02051	N	-1.37493766698932	0.02874	0.1275671	-1.28464682679407	0.04637	0.2192043	0.997433903868532	0.35614	0.624846	0.39970	0	0.627178	0.54094	0	0.650271	0.49498	0	0.530356	0.10902	0	.	.	4.91	2.38	0.28415	0.703000	0.25321	3.807000	0.39893	-0.052000	0.16994	0.076000	0.22236	0.995000	0.32472	0.042000	0.14466	0.4798:0.5202:0.0:0.0	10.198	0.42245	440	0.80101	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.025253	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	1591.45	34	chr1	24128186	.	C	A	1591.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.937;DP=287;ExcessHet=0;FS=6.047;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=-0.362;SOR=1.249	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1056	6	0	1	0
chr1	24605622	24605622	C	T	exonic	NCMAP	.	nonsynonymous SNV	NCMAP:NM_001010980:exon4:c.C184T:p.R62W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.0396422574951	.	.	2.479e-05	0	0	0	0	1.504e-05	0	0.0001	1.94e-05	3	154602	rs763527893	1.231e-05	1.231e-05	8.167e-06	1.65e-05	5.797e-05	7.7e-06	6.35e-06	2.194e-05	1.43e-05	0	2.236e-05	0	0	0	0	8.093e-06	4.967e-05	5.797e-05	2.629e-05	2.627e-05	1.285e-05	4.035e-05	0.0002	8.14e-06	5.14e-06	.	.	2.414e-05	0	0	0	0.0002	0	0	1.47e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.96	0.70309	D	0.000000	0.84330	D	0.000000	0.939888	0.37277	D	2.42	0.70002	M	.	.	.	-7.89	0.96166	D	0.892	0.89131	-0.4754	0.69534	T	0.265	0.63577	T	9	0.70283616	0.72552	D	0.039642	0.58928	D	0.267	0.58126	0.499	0.58991	0.184867976434	0.18130	0.38543112137561175	0.38458	1.10029828392	0.77706	0.623813390732	0.56267	T	0.31848	0.68985	T	0.181298	0.72161	D	0.204174	0.83357	D	0.997920334339142	0.92772	D	0.925407	0.72589	D	0.8730168	0.89102	0.69332236	0.81948	0.8730168	0.89104	0.69332236	0.81949	-6.711	0.51893	T	.	.	0.406	0.59931	A	.	.	4.467060	0.69576	25.4	0.99903172937617346	0.97426	0.65805	0.32861	D	AEFDBHCI	0.355681	0.44733	N	0.398744597995159	0.61355	4.335353	0.396150784899807	0.61329	4.331282	0.999979695083638	0.50053	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.71	4.77	0.60425	0.506000	0.22367	0.307000	0.17042	0.599000	0.40250	0.953000	0.33222	0.291000	0.24165	0.934000	0.47231	0.3181:0.6819:0.0:0.0	11.799	0.51386	825	0.40060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1533.27	34	chr1	24605622	.	C	T	1533.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.238;DP=340;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=1.37;SOR=0.658	GT:AD:DP:GQ:PL	0/1:79,67:146:99:1543,0,1952	5	0	1	1
chr1	25392026	25392026	C	G	exonic	RHCE	.	nonsynonymous SNV	RHCE:NM_001330430:exon4:c.G602C:p.R201T,RHCE:NM_020485:exon4:c.G602C:p.R201T,RHCE:NM_138618:exon4:c.G602C:p.R201T	Rh-null disease, amorph type (3)	422	1071	27	2	0	31	0.014266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00149342305908	0.0003	0.000599042	0.0002	0.0003	0	0	0	0.0002	0.0011	0.0003	0.000194	30	154602	rs141398055	0.0001	0.0002	0.0001	0.0002	0.0038	0.0001	0.0001	0.0026	0.0022	0.0005	8.945e-05	3.826e-05	2.519e-05	1.872e-05	0.0038	6.925e-05	0.0004	0.0008	0.0004	0.0006	0.0004	0.0003	0.0010	0.0003	0.0003	0.0008	0.0007	0.0010	0	0.0001	0	0.0002	0	0	0.0001	0.0005	0.0004	1.0	0.09236	T	0.511	0.11479	T	0.0	0.02946	B	0.002	0.06944	B	0.355312	0.04271	N	1.419120	1	0.08975	N	.	.	.	2.01	0.21291	T	1.28	0.01064	N	0.09	0.08366	-0.9463	0.41599	T	0.009	0.03403	T	10	0.011372298	0.00249	T	0.001493	0.02292	T	0.017	0.02790	.	.	0.0675242888579	0.06100	0.16438441148644187	0.16358	0.435991438937	0.43702	0.259397000074	0.04819	T	.	.	.	-0.53759	0.00346	T	-0.693831	0.06170	T	0.00728348726458671	0.00083	T	0.625137	0.24143	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.01367	B	.;.;.;.	.;.;.;.	-0.997177	0.00775	0.025	0.14596752121476211	0.00327	0.00226	0.01270	N	AEFBI	0.059444	0.11227	N	-1.99068234749651	0.00221	0.009494172	-1.98396137076601	0.00331	0.01461554	0.00356972976400403	0.10179	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	3.99	-7.76	0.01094	-0.843000	0.04457	-0.427000	0.09246	-0.729000	0.03740	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5986:0.2519:0.1494:0.0	6.936	0.23646	881	0.29269	Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.005035	0.000000	0.002717	0.008772	0.000000	0.000000	0.006098	0.011364	0.2143	7063.72	197	chr1	25392026	.	C	G	7063.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.824;DP=657;ExcessHet=1.1394;FS=1.116;MLEAC=3;MLEAF=0.214;MQ=59.54;MQRankSum=-1.64;QD=14.1;ReadPosRankSum=0.75;SOR=0.772	GT:AD:DP:GQ:PL	0/1:132,158:290:99:4066,0,3365	4	0	3	0
chr1	26067352	26067352	G	A	exonic	TRIM63	.	nonsynonymous SNV	TRIM63:NM_032588:exon1:c.C143T:p.A48V	.	437	1083	2	0	0	2	0.000922509	.	.	.	178468	Primary_familial_hypertrophic_cardiomyopathy|TRIM63-related_disorder|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155|.|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.557	0.020277507675	0.0014	0.000399361	0.0013	0.0004	0.0010	0	0.0002	0.0018	0.0011	0.0009	0.0013325	206	154602	rs140523053	0.0023	0.0023	0.0023	0.0023	0.0028	0.0022	0.0022	0.0027	0.0027	0.0004	0.0012	7.653e-05	0	0.0002	0.0009	0.0028	0.0014	0.0009	0.0013	0.0013	0.0012	0.0013	0.0021	0.0011	0.0011	0.0019	0.0018	0.0004	0	0.0016	0	0	0	0	0.0021	0.0014	0.0010	0.0	0.91255	D	0.055	0.46862	T	0.998	0.73220	D	0.971	0.72444	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.175	0.09039	N	2.4	0.15608	T	-3.9	0.72932	D	0.919	0.92200	-0.9396	0.42679	T	0.057	0.23828	T	10	0.29423878	0.46996	T	0.020278	0.42842	T	0.557	0.81774	.	.	0.748536116192	0.74626	0.6174915328106051	0.61681	0.688503199129	0.60440	0.758670628071	0.75732	T	0.344248	0.71279	T	-0.116384	0.33718	T	0.0592072	0.74192	D	0.071366982965435	0.08841	T	0.956054	0.83312	D	0.85715234	0.87870	0.83525866	0.90527	0.85715234	0.87871	0.83525866	0.90528	-11.749	0.83607	D	.	.	0.865	0.80602	P	.	.	5.400007	0.90430	31	0.99928911392718311	0.99279	0.99748	0.99172	D	AEFDBIJ	0.971041	0.99319	D	0.650068620593564	0.76371	6.474459	0.735087393430099	0.85041	8.463268	1.0	0.98316	0.549168	0.22868	0	0.563428	0.19063	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.67	5.67	0.87673	9.994000	0.99266	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.371	0.94478	731	0.54177	RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type, conserved site|Zinc finger, RING-type|Zinc finger, RING-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1429	2583.23	38	chr1	26067352	.	G	A	2583.23	.	AC=2;AF=0.143;AN=14;DP=266;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.04;SOR=1.192	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1285	6	1	0	0
chr1	26170141	26170141	C	T	exonic	ZNF593	.	nonsynonymous SNV	ZNF593:NM_015871:exon1:c.C158T:p.P53L	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	.	0.0082	0.0123802	0.0053	0.0484	0.0130	0	0	0.0013	0	0.0002	0.0023803	368	154602	rs76775439	0.0014	0.0014	0.0015	0.0013	0.0334	0.0014	0.0013	0.0317	0.0310	0.0334	0.0040	0.0017	0	0	0.0047	0.0004	0.0037	0.0002	0.0094	0.0094	0.0097	0.0091	0.0304	0.0090	0.0088	0.0290	0.0285	0.0304	0	0.0059	0.0017	0	0	0.0034	0.0006	0.0095	0.0002	0.669	0.05076	T	0.648	0.06788	T	0.027	0.19556	B	0.012	0.16012	B	0.001154	0.40056	N	0.261875	0.717837	0.33585	D	0.785	0.19527	N	0.96	0.44461	T	0.87	0.29114	N	0.255	0.28849	-1.0452	0.15767	T	0.011	0.03949	T	10	0.006397307	0.00145	T	.	.	.	0.193	0.47281	.	.	0.272205846399	0.26826	0.586562092368773	0.58586	0.619716322566	0.56308	0.61102449894	0.54461	T	0.008809	0.08886	T	-0.469678	0.00854	T	-0.423751	0.30645	T	0.0137491613762883	0.00258	T	0.794521	0.43681	T	0.039990753	0.05625	0.05376432	0.09118	0.039990753	0.05624	0.05376432	0.09118	-3.536	0.16940	T	.	.	0.118	0.39528	B	.;.	.;.	1.903334	0.24177	16.30	0.87975301653202231	0.17622	0.34110	0.24989	N	ALL	0.154546	0.27959	N	-0.502822710899171	0.21988	1.170947	-0.346871005546974	0.26606	1.470699	0.999999999999984	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.63	4.71	0.59010	1.227000	0.32179	3.977000	0.40873	-0.177000	0.10537	0.831000	0.30147	0.999000	0.35428	0.017000	0.10941	0.1654:0.7512:0.0:0.0834	7.557	0.26996	411	0.82069	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004073	0.021505	0.004098	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	808.63	38	chr1	26170141	.	C	T	808.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.74;DP=272;ExcessHet=0;FS=2.904;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=-1.777;SOR=0.404	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1098	6	0	1	0
chr1	26188770	26188770	A	G	splicing	CNKSR1	NM_001297648:exon20:c.917-2A>G;NM_006314:exon20:c.1691-2A>G;NM_001297647:exon20:c.1712-2A>G	.	.	.	0	1476	43	3	0	49	0.0163279	0.9999	0.93	.	2812492	not_provided|CNKSR1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0002	0.00439297	0.0029	0	0.0009	0	0	0.0006	0.0045	0.0180	0.0025032	387	154602	rs144821580	0.0013	0.0013	0.0008	0.0018	0.0165	0.0013	0.0013	0.0158	0.0155	8.982e-05	0.0011	0	0	0	0.0066	0.0003	0.0018	0.0165	0.0010	0.0010	0.0008	0.0012	0.0163	0.0009	0.0008	0.0133	0.0123	0.0002	0	0.0016	0	0	0	0.0068	0.0005	0.0033	0.0163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.270484	0.11703	T	-0.147682	0.59448	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.435240	0.90871	32	0.98233952903132682	0.39414	0.89400	0.49842	D	AEFDBI	.	.	.	0.850288485271206	0.89123	9.844409	0.636255273005477	0.77591	6.708883	0.312018463574793	0.19296	0.078448	0.01964	0	0.097471	0.02872	0	0.072005	0.02045	0	0.058706	0.01089	0	0.958536	0.64633	4.77	4.77	0.60425	4.272000	0.58705	7.992000	0.76116	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.155000	0.20479	1.0:0.0:0.0:0.0	10.84	0.45913	413	0.81939	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	717.53	35	chr1	26188770	.	A	G	717.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.176;DP=243;ExcessHet=0;FS=0.954;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.681;SOR=0.536	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,981	6	0	1	0
chr1	26188925	26188925	G	A	exonic	CNKSR1	.	nonsynonymous SNV	CNKSR1:NM_001297647:exon20:c.G1865A:p.R622H,CNKSR1:NM_001297648:exon20:c.G1070A:p.R357H,CNKSR1:NM_006314:exon20:c.G1844A:p.R615H	.	0	1516	6	0	0	6	0.00197498	.	.	.	718874	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.037	.	0.0085	0.00898562	0.0027	0.0226	0.0044	0	0	0.0005	0.0022	0.0001	0.0026067	403	154602	rs61762998	0.0012	0.0012	0.0013	0.0011	0.0242	0.0012	0.0011	0.0228	0.0222	0.0242	0.0036	0.0016	0	0	0.0045	0.0005	0.0031	0.0002	0.0067	0.0067	0.0069	0.0064	0.0209	0.0063	0.0062	0.0197	0.0193	0.0209	0	0.0051	0.0017	0	0	0.0034	0.0007	0.0071	0.0002	0.107	0.29823	T	0.358	0.17064	T	0.086	0.24919	B	0.005	0.11217	B	0.055934	0.22601	N	0.495802	0.999997	0.08975	N	2.01	0.54746	M	2.4	0.15843	T	-1.3	0.42957	N	0.197	0.21710	-1.0164	0.24884	T	0.006	0.02055	T	10	0.003865391	0.00073	T	.	.	.	0.037	0.09474	.	.	0.177238962908	0.17366	0.1476650536286772	0.14688	0.271329387605	0.29656	0.355691462755	0.18757	T	0.007992	0.07355	T	-0.602239	0.00141	T	-0.620931	0.11113	T	0.00744029707040835	0.00086	T	0.849215	0.53152	T	0.034272753	0.03813	0.031375095	0.01718	0.034272753	0.03812	0.031375095	0.01717	-7.114	0.56771	T	.	.	0.082	0.11220	B	.;.;.	.;.;.	2.894708	0.38345	20.7	0.9986539473907623	0.94366	0.24268	0.22340	N	AEFDBI	0.116125	0.22804	N	-0.45577811563148	0.23545	1.265122	-0.347935149040524	0.26572	1.468653	1.76468148043862E-4	0.05786	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.542086	0.14980	0	.	.	5.74	2.41	0.28644	0.748000	0.25970	1.808000	0.28938	0.676000	0.76740	0.324000	0.25538	0.948000	0.28948	0.987000	0.62547	0.2402:0.1166:0.461:0.1822	1.911	0.03086	413	0.81939	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005556	0.025253	0.004087	0.000000	0.000000	0.008621	0.003086	0.000000	0.07143	1048.49	36	chr1	26188925	.	G	A	1048.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.991;DP=262;ExcessHet=0;FS=3.334;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-1.626;SOR=1.179	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,981	6	0	1	0
chr1	26200834	26200834	G	A	exonic	CATSPER4	.	nonsynonymous SNV	CATSPER4:NM_198137:exon8:c.G992A:p.G331D	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	.	0.0083	0.00858626	0.0026	0.0216	0.0044	0	0	0.0005	0.0022	0.0001	0.0025549	395	154602	rs80228909	0.0012	0.0012	0.0013	0.0011	0.0240	0.0011	0.0011	0.0226	0.0221	0.0240	0.0035	0.0016	0	0	0.0045	0.0004	0.0030	0.0002	0.0066	0.0066	0.0068	0.0063	0.0208	0.0062	0.0061	0.0196	0.0192	0.0208	0	0.0048	0.0017	0	0	0.0034	0.0006	0.0066	0.0002	0.213	0.19430	T	0.306	0.19972	T	0.012	0.16265	B	0.006	0.12133	B	0.679539	0.06084	N	1.206920	1	0.08975	N	0.695	0.17993	N	-4.37	0.97343	D	-0.04	0.07590	N	0.173	0.18512	-0.2187	0.77185	T	0.466	0.79383	T	10	0.0032977164	0.00057	T	.	.	.	0.136	0.36778	.	.	0.45470266194	0.45092	0.5923645865950602	0.59166	0.231487563342	0.25701	0.294064283371	0.09518	T	0.022173	0.17138	T	-0.403609	0.02192	T	-0.335613	0.40841	T	0.000436859698701168	0.00003	T	0.470053	0.13899	T	0.036906425	0.04632	0.063858695	0.12712	0.036906425	0.04631	0.063858695	0.12712	-2.577	0.06330	T	.	.	0.070	0.06433	B	.;.	.;.	-0.208363	0.03048	0.471	0.78245153556603186	0.12217	0.03672	0.08936	N	AEFDBCI	0.042926	0.06722	N	-1.22054054243808	0.04703	0.2128111	-1.24542602851954	0.05198	0.2471426	0.999970743878914	0.50053	0.455138	0.09556	0	0.59043	0.45803	0	0.606884	0.38211	0	0.542086	0.14980	0	.	.	4.21	-0.0823	0.13033	-0.715000	0.05099	-0.315000	0.10009	-0.272000	0.06708	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3447:0.0:0.4617:0.1935	2.996	0.05632	412	0.82007	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.030303	0.004076	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	638.53	16	chr1	26200834	.	G	A	638.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.143;DP=187;ExcessHet=0;FS=3.584;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.26;ReadPosRankSum=-1.285;SOR=1.667	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr1	26272022	26272022	T	C	exonic	CEP85	.	nonsynonymous SNV	CEP85:NM_001281518:exon4:c.T41C:p.I14T,CEP85:NM_001281517:exon10:c.T1592C:p.I531T,CEP85:NM_001319944:exon11:c.T1745C:p.I582T,CEP85:NM_022778:exon11:c.T1745C:p.I582T	.	.	.	.	.	.	.	.	0.0069	0.096	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00634142751333	.	.	8.488e-06	0	0	0	0	1.531e-05	0	0	6.5e-06	1	154602	rs780464226	3.421e-06	3.42e-06	4.084e-06	2.75e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	6.57e-06	6.567e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.007	0.69154	D	0.554	0.38213	P	0.218	0.37679	B	0.008182	0.30970	N	0.370114	0.684114	0.33262	D	2.295	0.65404	M	2.85	0.10578	T	-2.6	0.55983	D	0.579	0.60071	-1.0350	0.18857	T	0.027	0.11529	T	10	0.17525887	0.32448	T	0.006341	0.16668	T	0.049	0.13647	0.198	0.11110	0.284150004643	0.28039	0.12920489930440576	0.12845	0.241069569524	0.26640	0.417306423187	0.27466	T	0.07027	0.33919	T	-0.136054	0.30521	T	-0.433209	0.29570	T	0.928797245025635	0.59246	D	0.756024	0.39305	T	0.3743597	0.58905	0.25009215	0.50594	0.3743597	0.58906	0.25009215	0.50593	-0.701	0.00877	T	.	.	0.089	0.13969	B	.;.;.	.;.;.	3.939161	0.57625	23.9	0.99408098540331591	0.63122	0.97556	0.75524	D	AEFGBI	0.473171	0.51798	N	0.0166890683227944	0.42615	2.570976	0.118246061413308	0.45481	2.811	0.999999937815084	0.74766	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.47	4.33	0.51083	3.842000	0.55567	3.544000	0.39017	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.998000	0.85391	0.0:0.0736:0.0:0.9264	11.105	0.47416	446	0.79659	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	496.53	53	chr1	26272022	.	T	C	496.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.859;DP=230;ExcessHet=0;FS=1.047;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=0.802;SOR=0.518	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1075	6	0	1	0
chr1	26282323	26282323	A	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	6180.35	20	chr1	26282323	.	A	*	6180.35	.	AC=2;AF=0.167;AN=12;DP=158;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=37.15;SOR=1.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:26:78:1|1:26282270_C_T:1131,1131,1131:26282270	4	0	2	1
chr1	26282334	26282341	TGGGGCCG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2483.77	23	chr1	26282334	.	TGGGGCCG	*	2483.77	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.18;DP=171;ExcessHet=0.7136;FS=10.12;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=18.26;ReadPosRankSum=0.472;SOR=1.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:19,0:30:99:0|1:26282270_C_T:372,429,1179:26282270	4	0	2	1
chr1	26282344	26282361	ACCGGGACCGGGACTGGG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2463.77	24	chr1	26282344	.	ACCGGGACCGGGACTGGG	*	2463.77	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.08;DP=190;ExcessHet=0.7136;FS=9.185;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.32;ReadPosRankSum=-0.221;SOR=1.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:22,0:34:99:0|1:26282270_C_T:385,451,1347:26282270	4	0	2	1
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	1231.95	21	chr1	26282357	.	CTGGGGCCGGG	*	1231.95	.	AC=7;AF=0.583;AN=12;DP=190;ExcessHet=0;FS=3.622;MLEAC=8;MLEAF=0.667;MQ=60;QD=8.99;SOR=1.052	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,11:30:99:0|1:26282270_C_T:1213,795,762:26282270	1	2	3	1
chr1	26282374	26282376	ACC	0	exonic	UBXN11	.	.	.	.	400	608	276	45	193	559	0.231353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	3694.53	26	chr1	26282374	.	ACC	*	3694.53	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.23;DP=209;ExcessHet=0.7136;FS=6.668;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=21.23;ReadPosRankSum=0.296;SOR=0.34	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,19:33:99:0|1:26282270_C_T:756,0,528:26282270	3	0	2	2
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	1271.16	30	chr1	26282386	.	GCCGGGA	*	1271.16	.	AC=3;AF=0.3;AN=10;BaseQRankSum=0.017;DP=230;ExcessHet=0.7136;FS=7.058;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=6.91;ReadPosRankSum=0.706;SOR=0.339	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:17,0:38:99:0|1:26282270_C_T:831,882,1558:26282270	3	1	1	2
chr1	26301709	26301709	G	A	exonic	UBXN11	.	nonsynonymous SNV	UBXN11:NM_001077262:exon3:c.C85T:p.R29C,UBXN11:NM_145345:exon4:c.C85T:p.R29C,UBXN11:NM_183008:exon4:c.C85T:p.R29C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.018849692101	.	.	8.467e-06	0	0	0	0	1.526e-05	0	0	6.5e-06	1	154602	rs762543495	4.036e-05	4.104e-05	4.629e-05	3.438e-05	8.961e-05	3.179e-05	2.911e-05	3.545e-05	3.205e-05	8.961e-05	0	0	0	1.872e-05	0	4.587e-05	4.969e-05	1.16e-05	2.629e-05	2.627e-05	2.57e-05	2.691e-05	7.242e-05	8.14e-06	5.14e-06	1.92e-05	1.032e-05	7.242e-05	0	0	0	0	0	0	1.47e-05	0	0	0.01	0.68238	D	0.001	0.83351	D	0.998	0.77913	D	0.736	0.58350	P	0.119350	0.19077	N	0.393532	0.999958	0.24763	N	1.95	0.52479	M	0.47	0.56114	T	-2.33	0.67241	N	0.267	0.33796	-0.9453	0.41764	T	0.182	0.53011	T	10	0.17514771	0.32431	T	0.01885	0.41045	T	0.171	0.43483	0.447	0.50629	0.626149575078	0.62310	0.26166867260145005	0.26079	0.585960603407	0.54216	0.355258882046	0.18694	T	0.084226	0.41493	T	-0.11111	0.34585	T	-0.289721	0.45801	T	0.76398903131485	0.44083	D	0.906909	0.68653	D	0.11186075	0.26430	0.08295126	0.18974	0.11186075	0.26430	0.08295126	0.18974	-5.314	0.43658	T	.	.	0.193	0.45641	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.463728	0.48288	22.6	0.99552363488810158	0.71211	0.30336	0.24056	N	AEFGBI	0.185948	0.31327	N	0.0147110890921664	0.42525	2.563802	-0.0641120694126213	0.36885	2.152415	0.997439328354303	0.35614	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.35	2.0	0.25495	1.702000	0.37455	2.720000	0.34304	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	0.876000	0.41813	0.0:0.0:0.4963:0.5037	9.058	0.35580	394	0.83065	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	621.83	52	chr1	26301709	.	G	A	621.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.944;DP=234;ExcessHet=0;FS=2.304;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.055;SOR=0.433	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1067	6	0	1	0
chr1	26328837	26328837	C	T	exonic	CRYBG2	.	nonsynonymous SNV	CRYBG2:NM_001039775:exon16:c.G4351A:p.E1451K	.	424	1094	3	1	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.528	0.124672393099	.	.	4.119e-05	0	8.64e-05	0.0005	0	0	0	0	3.23e-05	5	154602	rs758928498	4.241e-05	4.241e-05	4.084e-05	4.4e-05	0.0003	3.376e-05	3.065e-05	0.0001	0.0001	0	2.237e-05	0	0.0003	0	0	4.586e-05	0	0	1.973e-05	1.97e-05	1.285e-05	2.693e-05	0.0002	5.25e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.94e-05	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000004	0.62929	D	0.104471	0.999869	0.81001	D	.	.	.	.	.	.	.	.	.	0.709	0.71232	-0.0681	0.80821	T	0.542	0.83137	D	10	0.23047704	0.39999	T	0.124672	0.80607	D	0.528	0.80067	.	.	0.739935291395	0.73760	0.6497384068064385	0.64909	0.369375503011	0.38465	0.488458484411	0.37225	T	.	.	.	-0.0916083	0.37811	T	-0.0393641	0.67744	D	0.327776074409485	0.26136	T	0.909809	0.68205	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.80085	P	.;.;.	.;.;.	3.050602	0.40936	21.3	0.98256215517398382	0.39621	0.94129	0.60200	D	AEFBI	0.650073	0.62431	D	-0.418173159114811	0.24833	1.343638	-0.473232883521117	0.22894	1.245795	0.99407586973144	0.33476	0.661447	0.50134	0	0.547309	0.14657	0	0.644132	0.48003	0	0.564101	0.26826	0	.	.	5.03	3.15	0.35301	4.208000	0.58284	4.927000	0.46095	-0.896000	0.02358	1.000000	0.71638	1.000000	0.68203	0.577000	0.30821	0.0:0.7722:0.2278:0.0	17.736	0.88300	400	0.82730	Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin;.;Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	73.44	43	chr1	26328837	.	C	T	73.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.282;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=-0.524;SOR=0.223	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1620	6	0	1	0
chr1	26344556	26344556	T	C	exonic	CRYBG2	.	nonsynonymous SNV	CRYBG2:NM_001039775:exon2:c.A2102G:p.D701G	.	426	1083	13	0	0	13	0.00596604	.	.	.	3239258	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0030	0.0017	0	0	0	0.0057	0	0.0023	0.0009638	149	154602	rs199647245	0.0035	0.0033	0.0035	0.0034	0.0060	0.0034	0.0034	0.0044	0.0038	0.0006	0.0028	0.0020	0	0.0005	0.0060	0.0040	0.0034	0.0018	0.0030	0.0030	0.0029	0.0031	0.0058	0.0028	0.0027	0.0048	0.0045	0.0007	0	0.0058	0.0017	0	0.0005	0.0034	0.0045	0.0057	0.0021	.	.	.	0.26	0.23029	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.051	0.02272	.	.	.	.	.	.	.	0.005120486	0.00111	T	.	.	.	.	.	.	.	0.563948154196	0.56057	0.09080917579449849	0.09013	.	.	0.261729449034	0.05099	T	.	.	.	-0.575919	0.00204	T	-0.598953	0.12899	T	.	.	.	0.424958	0.11391	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.12084	B	.;.;.	.;.;.	-0.246383	0.02861	0.404	0.77606991183132512	0.11946	0.00651	0.02833	N	AEFBI	.	.	.	.	.	.	.	.	.	0.69739734522868	0.22657	0.162113	0.03585	0	0.059962	0.00310	0	0.175069	0.04249	0	0.062806	0.01542	0	0.0755104	0.17533	4.79	-6.05	0.01988	-1.143000	0.03311	-2.148000	0.04142	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.372000	0.26156	0.0:0.1275:0.1045:0.768	9.985	0.41008	358	0.85037	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007797	0.015789	0.000000	0.000000	0.000000	0.000000	0.013761	0.008772	0.1429	2952.23	36	chr1	26344556	.	T	C	2952.23	.	AC=2;AF=0.143;AN=14;DP=465;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=33.55;SOR=0.836	GT:AD:DP:GQ:PL	0/0:105,0:105:99:0,120,1800	6	1	0	0
chr1	26773690	26773690	-	GCA	exonic	ARID1A	.	nonframeshift insertion	ARID1A:NM_006015:exon16:c.3977_3978insGCA:p.Q1334_R1335insQ,ARID1A:NM_139135:exon16:c.3977_3978insGCA:p.Q1334_R1335insQ	Coffin-Siris syndrome 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	237025	not_provided|Intellectual_disability,_autosomal_dominant_14|not_specified	MedGen:C3661900|MONDO:MONDO:0013819,MedGen:C3553247,OMIM:614607,Orphanet:1465|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0024	0.0017	0.0039	0.0002	0.0015	0.0056	0.0183	0.0006531	17	26028	rs570962335	0.0028	0.0028	0.0023	0.0033	0.0181	0.0027	0.0027	0.0174	0.0171	0.0026	0.0014	0	0.0023	0.0004	0.0023	0.0018	0.0039	0.0181	0.0025	0.0026	0.0023	0.0028	0.0181	0.0023	0.0023	0.0150	0.0139	0.0033	0	0.0012	0	0.0044	0	0	0.0017	0.0029	0.0181	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	178.4	34	chr1	26773690	.	C	CGCA	178.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.054;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=0.549;SOR=0.883	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr1	27409716	27409716	C	T	exonic	WASF2	.	nonsynonymous SNV	WASF2:NM_006990:exon8:c.G1315A:p.D439N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.00864683857434	.	.	9.039e-06	0	0	0	0	1.562e-05	0	0	6.5e-06	1	154602	rs775041444	4.291e-05	4.104e-05	3.907e-05	4.693e-05	5.385e-05	3.366e-05	3.078e-05	4.208e-05	3.842e-05	0	0	0	0	0	0	5.385e-05	1.799e-05	0	1.972e-05	1.97e-05	3.855e-05	0	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	.	.	.	0.129	0.34837	T	1.0	0.90584	D	0.999	0.92359	D	0.002780	0.35968	N	0.263778	1	0.81001	D	2.07	0.56829	M	.	.	.	.	.	.	0.884	0.88246	-0.6072	0.64519	T	0.269	0.64013	T	10	0.7871884	0.78347	D	0.008647	0.22854	T	.	.	0.521	0.62368	0.433221091474	0.42940	0.4065402994313141	0.40570	.	.	0.825614154339	0.85890	D	0.450762	0.79175	T	-0.0274893	0.47780	T	-0.277263	0.47083	T	0.961611449718475	0.66132	D	0.909409	0.67928	D	0.5014895	0.67182	0.45176658	0.68104	0.5014895	0.67183	0.45176658	0.68105	-4.709	0.33513	T	.	.	0.534	0.66081	A	.	.	4.912321	0.80831	27.4	0.99926266896984273	0.99103	0.98183	0.80324	D	AEFBHCI	0.907320	0.86120	D	0.740149728398348	0.82261	7.719419	0.691905335396001	0.81764	7.603533	0.999999999612894	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.69	4.69	0.58546	5.830000	0.69016	5.960000	0.51806	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.223	0.86845	560	0.71333	WH2 domain|WH2 domain|WH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	850.44	37	chr1	27409716	.	C	T	850.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.96;DP=266;ExcessHet=0;FS=0.884;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.557;SOR=0.866	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr1	27551847	27551847	C	T	exonic	AHDC1	.	nonsynonymous SNV	AHDC1:NM_001029882:exon6:c.G269A:p.R90H,AHDC1:NM_001371928:exon8:c.G269A:p.R90H	Xia-Gibbs syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2340322	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.123	0.376318604723	.	.	8.639e-06	0	0	0	0	1.579e-05	0	0	6.5e-06	1	154602	rs768575414	2.194e-05	2.394e-05	2.183e-05	2.206e-05	5.041e-05	1.588e-05	1.359e-05	1.831e-05	1.583e-05	0	0	0	5.041e-05	0	0	2.61e-05	0	1.16e-05	2.634e-05	2.627e-05	3.862e-05	1.349e-05	5.889e-05	8.16e-06	5.15e-06	1.974e-05	1.126e-05	0	0	0	0	0	0	0	5.889e-05	0	0	0.0	0.91255	D	0.145	0.33000	T	0.004	0.12183	B	0.0	0.01387	B	.	.	.	.	0.982092	0.24989	N	0	0.06538	N	0.62	0.53302	T	0.0	0.07008	N	0.159	0.16864	-1.0581	0.12235	T	0.067	0.27502	T	9	0.11903581	0.22517	T	0.376319	0.92866	D	0.123	0.34020	0.231	0.15855	0.138757226776	0.13463	0.20415672891440484	0.20332	1.4481646538	0.86087	0.879624307156	0.93910	D	0.011728	0.10420	T	-0.0913729	0.37848	T	-0.348756	0.39346	T	0.459392848042637	0.31143	T	0.70113	0.31087	T	0.122998476	0.28891	0.12514088	0.30156	0.122998476	0.28891	0.12514088	0.30155	-5.002	0.36861	T	.	.	0.121	0.25034	B	.;.;.;.;.	.;.;.;.;.	3.483783	0.48658	22.7	0.99726665043142348	0.82477	0.71730	0.35140	D	AEFBI	0.108072	0.21511	N	-0.336315342768982	0.27778	1.526809	-0.16386320848405	0.32878	1.874941	0.999975559235712	0.50053	0.646311	0.45356	0	0.546412	0.12157	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	3.5	3.5	0.39181	2.225000	0.42597	4.593000	0.43966	0.544000	0.25403	0.033000	0.20612	1.000000	0.68203	0.998000	0.85391	0.0:0.8853:0.0:0.1147	8.377	0.31608	410	0.82135	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	2370.63	34	chr1	27551847	.	C	T	2370.63	.	AC=2;AF=0.143;AN=14;DP=269;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=29.27;SOR=1.339	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1071	6	1	0	0
chr1	28683635	28683635	T	G	exonic	GMEB1	.	nonsynonymous SNV	GMEB1:NM_001319674:exon2:c.T23G:p.V8G,GMEB1:NM_006582:exon2:c.T23G:p.V8G,GMEB1:NM_024482:exon2:c.T23G:p.V8G	.	433	1070	19	0	0	19	0.00880037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.469	0.0464093728242	0.0035	0.00159744	0.0033	0.0015	0.0011	0	0.0008	0.0047	0.0011	0.0034	0.0033247	514	154602	rs150937827	0.0048	0.0048	0.0048	0.0048	0.0116	0.0047	0.0047	0.0094	0.0086	0.0008	0.0018	0.0041	7.632e-05	0.0010	0.0116	0.0054	0.0066	0.0032	0.0034	0.0034	0.0034	0.0035	0.0053	0.0032	0.0031	0.0049	0.0047	0.0008	0.0110	0.0031	0.0069	0.0004	0.0008	0.0136	0.0053	0.0052	0.0043	0.0	0.91255	D	0.001	0.83351	D	0.995	0.67487	D	0.763	0.56556	P	0.000000	0.84330	D	0.000000	0.999608	0.47795	D	2.08	0.57402	M	0.21	0.59983	T	-3.38	0.66780	D	0.693	0.70088	-0.6276	0.63672	T	0.227	0.59208	T	10	0.007672459	0.00174	T	0.046409	0.62442	D	0.469	0.76355	.	.	0.35421846163	0.35036	0.8535117501213848	0.85313	0.699425841073	0.61035	0.69174271822	0.65957	T	0.299017	0.67156	T	-0.0343945	0.46777	T	0.18043	0.82020	D	0.0123958758475786	0.00203	T	0.792821	0.44691	T	0.80626404	0.84309	0.7908531	0.87698	0.80626404	0.84310	0.7908531	0.87699	-4.747	0.33968	T	.	.	0.828	0.78812	P	.;.;.	.;.;.	4.837298	0.78940	27.0	0.99668854406951313	0.78458	0.97085	0.72601	D	AEFDBI	0.761073	0.69890	D	0.498298936187844	0.66989	5.02233	0.564276210496479	0.72397	5.803303	0.99999912600913	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.55	5.55	0.83298	6.982000	0.75948	7.816000	0.69589	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.667	0.68520	457	0.78953	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008569	0.000000	0.013587	0.000000	0.000000	0.000000	0.021341	0.000000	0.1429	1926.23	40	chr1	28683635	.	T	G	1926.23	.	AC=2;AF=0.143;AN=14;DP=254;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=28.33;SOR=0.949	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1397	6	1	0	0
chr1	29275715	29275715	G	T	exonic	PTPRU	.	nonsynonymous SNV	PTPRU:NM_001195001:exon8:c.G1412T:p.R471L,PTPRU:NM_005704:exon8:c.G1412T:p.R471L,PTPRU:NM_133177:exon8:c.G1412T:p.R471L,PTPRU:NM_133178:exon8:c.G1412T:p.R471L	.	433	1052	36	1	0	38	0.0177404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	.	0.0052	0.00638978	0.0095	0.0008	0.0170	0.0013	0.0120	0.0086	0.0067	0.0172	0.0086092	1331	154602	rs35745442	0.0071	0.0071	0.0067	0.0074	0.0244	0.0069	0.0069	0.0212	0.0199	0.0010	0.0165	0.0105	0.0012	0.0125	0.0244	0.0057	0.0092	0.0177	0.0061	0.0061	0.0056	0.0067	0.0176	0.0058	0.0057	0.0146	0.0135	0.0009	0	0.0110	0.0098	0.0015	0.0133	0.0068	0.0065	0.0066	0.0176	0.166	0.24564	T	0.009	0.67890	D	0.912	0.53479	P	0.219	0.44178	B	0.000031	0.55875	D	0.069695	0.999525	0.47407	D	2.275	0.64647	M	0.64	0.52867	T	-4.39	0.77225	D	0.647	0.65844	-0.8413	0.52560	T	0.127	0.43380	T	9	0.009268105	0.00209	T	.	.	.	0.192	0.47115	.	.	0.24933006939	0.24537	0.6364288534790301	0.63576	0.72036751428	0.62177	0.577766299248	0.49771	T	0.327914	0.69838	T	-0.369222	0.03633	T	-0.289512	0.45823	T	0.0330116464804545	0.02473	T	0.987868	0.95886	D	0.38455072	0.59643	0.32482594	0.58403	0.38998896	0.60031	0.32482594	0.58402	-8.927	0.67704	D	.	.	0.231	0.46779	B	.;.;.;.	.;.;.;.	4.957788	0.81954	27.7	0.99732887324895736	0.82904	0.97459	0.74885	D	AEFBI	0.933729	0.92606	D	0.571116940105998	0.71377	5.641609	0.620875087269441	0.76457	6.494692	0.999927777652176	0.46280	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.4	5.4	0.77957	7.238000	0.77628	7.637000	0.63009	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	18.531	0.90944	371	0.84287	Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.015152	0.006793	0.023392	0.050000	0.008621	0.018293	0.015152	0.07143	771.63	47	chr1	29275715	.	G	T	771.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.247;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.42;ReadPosRankSum=-0.412;SOR=0.859	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1358	6	0	1	0
chr1	30733872	30733872	T	C	exonic	LAPTM5	.	nonsynonymous SNV	LAPTM5:NM_006762:exon8:c.A745G:p.T249A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00232793636584	0.0032	0.00259585	0.0008	0.0085	0.0005	0	0	1.554e-05	0	0	0.0007827	121	154602	rs113336710	0.0003	0.0003	0.0003	0.0002	0.0095	0.0002	0.0002	0.0086	0.0083	0.0095	0.0005	0	0	0	0.0010	9e-07	0.0008	8.14e-05	0.0026	0.0026	0.0025	0.0027	0.0091	0.0024	0.0023	0.0084	0.0081	0.0091	0	0.0009	0	0	0	0	1.471e-05	0.0024	0	0.657	0.04742	T	0.753	0.04754	T	0.0	0.02946	B	0.0	0.01387	B	0.947481	0.07634	N	1.027570	1	0.08975	N	0.29	0.10111	N	0.85	0.47130	T	-0.25	0.11008	N	0.022	0.00372	-1.0084	0.27416	T	0.054	0.22921	T	10	0.0037142038	0.00069	T	0.002328	0.04507	T	0.058	0.16647	.	.	0.198222871337	0.19423	0.20747620922971635	0.20663	0.173280383078	0.19520	0.302117168903	0.10716	T	0.053741	0.29529	T	-0.690146	0.00042	T	-0.758292	0.03174	T	0.00354871554168793	0.00038	T	0.359464	0.08250	T	0.016092815	0.00176	0.013581876	0.00001	0.016092815	0.00176	0.013581876	0.00001	-3.063	0.10876	T	.	.	0.067	0.02488	B	.	.	0.191514	0.05775	2.218	0.46874395511112049	0.03788	0.09792	0.15467	N	AEFBCI	0.079450	0.16047	N	-1.3384633290641	0.03246	0.1446731	-1.47238531701556	0.02573	0.1185793	0.999999991817387	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	4.8	-9.28	0.00557	-0.381000	0.07475	0.013000	0.13471	-0.218000	0.08083	0.224000	0.24579	0.001000	0.17328	0.225000	0.22599	0.1387:0.2627:0.1127:0.4859	2.047	0.03347	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002016	0.000000	0.004076	0.000000	0.000000	0.000000	0.003067	0.000000	0.07143	1003.53	33	chr1	30733872	.	T	C	1003.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.11;DP=301;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-0.149;SOR=0.658	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1183	6	0	1	0
chr1	31698526	31698526	G	A	exonic	COL16A1	.	nonsynonymous SNV	COL16A1:NM_001856:exon5:c.C347T:p.T116M	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	0.0081	0.00559105	0.0020	0.0216	0.0007	0.0015	0	2.997e-05	0.0022	6.056e-05	0.0018176	281	154602	rs34091659	0.0006	0.0006	0.0007	0.0005	0.0201	0.0006	0.0006	0.0188	0.0183	0.0201	0.0011	0	0.0009	0	0.0005	2.428e-05	0.0014	3.478e-05	0.0058	0.0058	0.0062	0.0054	0.0202	0.0055	0.0054	0.0191	0.0186	0.0202	0	0.0016	0	0.0004	0	0	0.0001	0.0043	0	0.002	0.72154	D	0.008	0.67890	D	0.015	0.90584	B	0.01	0.68939	B	0.000000	0.84330	D	0.000000	0.999993	0.08975	N	2.57	0.75187	M	0.96	0.42888	T	-0.76	0.29525	N	0.389	0.43029	-1.0290	0.20778	T	0.087	0.33830	T	10	0.008547276	0.00194	T	.	.	.	0.089	0.25827	.	.	0.648984209542	0.64607	0.6001986664515815	0.59950	0.162573078674	0.18344	0.432507961988	0.29552	T	0.01081	0.23302	T	-0.480565	0.00734	T	-0.446818	0.28048	T	0.0526035891095489	0.05951	T	0.808019	0.54891	T	0.1456603	0.33380	0.15333287	0.36037	0.1456603	0.33379	0.15333287	0.36036	-8.507	0.64475	D	.	.	0.098	0.26138	B	.;.	.;.	3.887393	0.56536	23.7	0.99078342288948051	0.51906	0.75717	0.37087	D	AEFBI	0.213103	0.33872	N	0.0639899905704139	0.44788	2.746571	0.0812534707470698	0.43605	2.658924	0.998921980984922	0.37985	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.7	3.78	0.42629	1.981000	0.40250	6.754000	0.56518	0.676000	0.76740	0.822000	0.30018	1.000000	0.68203	0.987000	0.62547	0.0917:0.0:0.6207:0.2875	6.008	0.18785	717	0.55835	Laminin G domain;Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	1368.46	33	chr1	31698526	.	G	A	1368.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.379;DP=307;ExcessHet=0;FS=2.213;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=-0.587;SOR=0.906	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1212	6	0	1	0
chr1	32771244	32771244	G	A	exonic	KIAA1522	.	nonsynonymous SNV	KIAA1522:NM_001198972:exon6:c.G1888A:p.A630T,KIAA1522:NM_001369553:exon6:c.G1921A:p.A641T,KIAA1522:NM_020888:exon6:c.G2065A:p.A689T	.	406	1101	15	0	0	15	0.0067659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0019	0.0157748	0.0086	0.0076	0.0002	0.0932	0.0012	0.0011	0.0056	0.0038	0.0075355	1165	154602	rs117872916	0.0032	0.0032	0.0031	0.0033	0.0792	0.0031	0.0031	0.0769	0.0759	0.0067	0.0003	0.0024	0.0792	0.0021	0.0030	0.0004	0.0045	0.0048	0.0053	0.0054	0.0047	0.0059	0.0908	0.0050	0.0049	0.0839	0.0811	0.0053	0	0.0012	0.0026	0.0908	0.0012	0	0.0007	0.0058	0.0057	0.422	0.09776	T	0.237	0.24621	T	0.0	0.02946	B	0.0	0.01387	B	0.274896	0.15056	N	0.492187	1	0.19781	N	0.345	0.11182	N	2.71	0.12055	T	-0.2	0.11008	N	0.062	0.05414	-0.9860	0.33590	T	0.001	0.00287	T	10	0.0017859936	0.00023	T	.	.	.	0.009	0.00846	.	.	0.196089822672	0.19227	0.1885308462771647	0.18771	0.113547634044	0.12816	0.317226052284	0.13000	T	0.002445	0.01836	T	-0.766764	0.00014	T	-0.796702	0.01986	T	3.34079086314887e-05	0.00000	T	0.535046	0.17917	T	0.026457611	0.01705	0.039930258	0.04200	0.026457611	0.01704	0.039930258	0.04200	-4.141	0.26577	T	.	.	0.064	0.01960	B	.;.;.	.;.;.	-1.056966	0.00693	0.020	0.55504421104957669	0.05356	0.03974	0.09385	N	AEFDBCI	0.062961	0.12137	N	-1.47517868184309	0.02026	0.08905271	-1.57036657309363	0.01839	0.08379932	0.999992884666669	0.74766	0.651	0.46895	0	0.588066	0.40923	0	0.26897	0.05253	2	0.683762	0.67416	0	.	.	3.64	-3.87	0.03939	-1.747000	0.01926	-1.928000	0.04482	-1.556000	0.00955	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4567:0.1257:0.2903:0.1273	2.183	0.03643	308	0.87611	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008560	0.000000	0.008152	0.008772	0.000000	0.000000	0.012195	0.018939	0.07143	631.45	55	chr1	32771244	.	G	A	631.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.657;DP=254;ExcessHet=0;FS=7.423;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-0.059;SOR=0.897	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr1	33010830	33010830	-	AGGATGTGGCTTTGGAGA	exonic	AK2	.	stoploss	AK2:NM_001319142:exon6:c.571_572insTCTCCAAAGCCACATCCT:p.*191delinsFSKATS*,AK2:NM_001199199:exon7:c.673_674insTCTCCAAAGCCACATCCT:p.*225delinsFSKATS*,AK2:NM_013411:exon7:c.697_698insTCTCCAAAGCCACATCCT:p.*233delinsFSKATS*,AK2:NM_001319139:exon8:c.553_554insTCTCCAAAGCCACATCCT:p.*185delinsFSKATS*	Reticular dysgenesis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0023	0.0011	0.0012	0.0011	0.0020	0.0033	0.0007	0.0010373	27	26028	rs767742838	2.737e-06	0.0001	1.362e-06	4.126e-06	.	6.4e-07	4.3e-07	.	.	0	0	0	0	7.514e-05	0	0	0	0	0.0003	0.0037	0.0003	0.0004	0.0006	0.0002	0.0002	0.0002	0.0002	0.0002	0.0022	0.0004	0.0015	0.0002	0.0005	0	0.0003	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	93.45	26	chr1	33010830	.	T	TAGGATGTGGCTTTGGAGA	93.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.38;DP=214;ExcessHet=0;FS=3.751;MLEAC=1;MLEAF=0.071;MQ=58.26;MQRankSum=-6.606;QD=1.7;ReadPosRankSum=-2.783;SOR=1.272	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	6	0	1	0
chr1	33013400	33013400	-	ATGTC	exonic	AK2	.	frameshift insertion	AK2:NM_001319142:exon5:c.374_375insGACAT:p.I125Mfs*8,AK2:NM_001199199:exon6:c.476_477insGACAT:p.I159Mfs*8,AK2:NM_001319141:exon6:c.500_501insGACAT:p.I167Mfs*8,AK2:NM_001625:exon6:c.500_501insGACAT:p.I167Mfs*8,AK2:NM_013411:exon6:c.500_501insGACAT:p.I167Mfs*8,AK2:NM_001319139:exon7:c.356_357insGACAT:p.I119Mfs*8,AK2:NM_001319140:exon7:c.356_357insGACAT:p.I119Mfs*8	Reticular dysgenesis, Autosomal recessive	0	1503	14	0	5	19	0.00463576	.	.	.	1330892	Severe_combined_immunodeficiency_disease	Human_Phenotype_Ontology:HP:0004430,MONDO:MONDO:0015974,MeSH:D016511,MedGen:C0085110,Orphanet:183660	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.568e-05	0.0008	2.866e-05	4.277e-05	0.0003	2.771e-05	2.509e-05	0.0002	0.0001	0	0.0003	3.835e-05	0.0002	1.885e-05	0	1.983e-05	3.322e-05	5.817e-05	0	1.313e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	45.42	56	chr1	33013400	.	G	GATGTC	45.42	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.859;DP=247;ExcessHet=0;FS=1.905;MLEAC=1;MLEAF=0.071;MQ=59.9;MQRankSum=-4.513;QD=0.81;ReadPosRankSum=-3.479;SOR=1.193	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1150	6	0	1	0
chr1	33021406	33021406	C	T	exonic	AK2	.	nonsynonymous SNV	AK2:NM_001319142:exon3:c.G260A:p.S87N,AK2:NM_001199199:exon4:c.G386A:p.S129N,AK2:NM_001319141:exon4:c.G386A:p.S129N,AK2:NM_001625:exon4:c.G386A:p.S129N,AK2:NM_013411:exon4:c.G386A:p.S129N,AK2:NM_001319139:exon5:c.G242A:p.S81N,AK2:NM_001319140:exon5:c.G242A:p.S81N	Reticular dysgenesis, Autosomal recessive	0	1493	28	1	0	30	0.00994695	.	.	.	498579	not_provided|Reticular_dysgenesis|not_specified|AK2-related_disorder	MedGen:C3661900|MONDO:MONDO:0009973,MedGen:C0272167,OMIM:267500,Orphanet:33355|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.128	0.0168867353057	0.0041	0.00219649	0.0042	0.0012	0.0006	0.0001	0.0006	0.0055	0.0011	0.0073	0.0043402	671	154602	rs61750965	0.0058	0.0058	0.0058	0.0058	0.0066	0.0057	0.0056	0.0065	0.0065	0.0010	0.0008	0.0062	2.519e-05	0.0004	0.0054	0.0066	0.0052	0.0056	0.0037	0.0037	0.0039	0.0036	0.0065	0.0035	0.0034	0.0060	0.0058	0.0014	0	0.0011	0.0081	0	0.0005	0	0.0065	0.0005	0.0035	0.464	0.09776	T	0.511	0.13832	T	0.0	0.33195	B	0.0	0.33146	B	0.063043	0.22053	N	0.591019	0.903657	0.81001	D	-0.69	0.01958	N	-0.99	0.76300	T	-0.2	0.13226	N	0.491	0.55886	-0.7014	0.60371	T	0.151	0.47962	T	10	0.013360918	0.00284	T	0.016887	0.38356	T	0.128	0.35103	.	.	0.648273525633	0.64535	0.4614190285344923	0.46059	0.175094801446	0.19712	0.410182654858	0.26482	T	0.162272	0.55157	T	-0.41274	0.01907	T	-0.360522	0.37994	T	0.0178057090999815	0.00509	T	0.940106	0.77361	D	0.11311202	0.26716	0.08396349	0.19281	0.12688412	0.29707	0.080425434	0.18192	-2.657	0.07379	T	.	.	0.151	0.39339	B	.;.;.;.;.	.;.;.;.;.	2.348688	0.30108	18.33	0.91303506057907224	0.20564	0.90869	0.52415	D	AEFGBI	0.216083	0.34136	N	-0.229406234226005	0.31931	1.795564	-0.0138875495912115	0.39088	2.312276	0.922964593518304	0.26726	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.35	4.43	0.52967	2.399000	0.44148	1.764000	0.28577	0.599000	0.40250	1.000000	0.71638	0.990000	0.31317	1.000000	0.97212	0.0:0.8531:0.0:0.1469	10.866	0.46063	542	0.72843	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005045	0.000000	0.001362	0.000000	0.000000	0.000000	0.006135	0.022727	0.08333	568.27	19	chr1	33021406	.	C	T	568.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.098;DP=205;ExcessHet=0;FS=1.143;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-0.781;SOR=0.992	GT:AD:DP:GQ:PL	0/1:28,24:52:99:578,0,675	5	0	1	1
chr1	33494592	33494592	C	T	exonic	ZSCAN20	.	nonsynonymous SNV	ZSCAN20:NM_001377378:exon6:c.C2086T:p.R696C,ZSCAN20:NM_001377379:exon7:c.C1294T:p.R432C,ZSCAN20:NM_001377376:exon8:c.C2248T:p.R750C,ZSCAN20:NM_001377377:exon8:c.C2245T:p.R749C,ZSCAN20:NM_145238:exon8:c.C2248T:p.R750C	.	403	1115	3	1	0	5	0.00223714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	.	0.00279553	0.0017	0.0001	0.0003	0	0	1.501e-05	0.0044	0.0121	0.0014683	227	154602	rs567502794	0.0008	0.0008	0.0004	0.0012	0.0115	0.0007	0.0007	0.0110	0.0107	8.963e-05	0.0001	0	7.557e-05	1.872e-05	0.0005	7.915e-05	0.0006	0.0115	0.0003	0.0003	0.0002	0.0004	0.0095	0.0002	0.0002	0.0074	0.0066	0	0	0	0	0	9.427e-05	0	1.471e-05	0	0.0095	.	.	.	0.017	0.60337	D	0.996	0.68779	D	0.448	0.46037	P	0.003334	0.35096	N	0.203527	0.999999	0.08975	N	1.935	0.51832	L	1.27	0.36146	T	.	.	.	0.173	0.18512	-1.0352	0.18794	T	0.069	0.28213	T	9	0.00564903	0.00125	T	.	.	.	0.048	0.13305	0.279	0.23323	0.535820281431	0.53231	0.20596124395737336	0.20513	0.287643818142	0.31166	0.368987321854	0.20687	T	0.130445	0.45935	T	-0.504278	0.00541	T	-0.486106	0.23801	T	0.0181920519851429	0.00540	T	0.833117	0.50161	T	0.15619588	0.35262	0.10741188	0.25857	0.15619588	0.35261	0.10741188	0.25856	-7.111	0.54839	T	.	.	0.181	0.39442	B	.	.	3.605357	0.50945	23.0	0.99750566825909226	0.84228	0.01301	0.04519	N	AEFBCI	0.204191	0.33065	N	-0.253781593839179	0.30952	1.730852	-0.239587034177638	0.30132	1.693935	0.104221874283708	0.16469	0.562547	0.31514	0	0.653731	0.59785	0	0.385369	0.06276	2	0.635551	0.53088	0	.	.	5.9	1.75	0.23707	0.331000	0.19477	0.617000	0.20091	-0.196000	0.09079	0.000000	0.06391	0.079000	0.22353	0.983000	0.59808	0.263:0.5385:0.1271:0.0714	5.182	0.14491	398	0.82839	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	1383.63	42	chr1	33494592	.	C	T	1383.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.35;DP=319;ExcessHet=0;FS=7.32;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=-0.133;SOR=0.812	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1387	6	0	1	0
chr1	33864375	33864375	G	C	exonic	HMGB4	.	nonsynonymous SNV	HMGB4:NM_001379301:exon1:c.G184C:p.A62P,HMGB4:NM_145205:exon2:c.G184C:p.A62P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.0172210765845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-05	0.0001	1.365e-05	1.378e-05	1.713e-05	8.95e-06	7.28e-06	1.095e-05	8.83e-06	0	0	0	0	0	0	1.713e-05	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.261	0.22962	T	.	.	.	.	.	.	0.002268	0.36887	N	0.232725	1	0.81001	D	2.925	0.84406	M	2.53	0.14038	T	-0.41	0.14000	N	0.298	0.33796	-0.9447	0.41863	T	0.096	0.36133	T	10	0.31336057	0.48787	T	0.017221	0.38829	T	0.280	0.59740	0.541	0.65304	0.665216195492	0.66240	0.5095415917327302	0.50876	0.0542822596113	0.05997	0.469324588776	0.34587	T	0.075125	0.35104	T	-0.0955755	0.37154	T	-0.375064	0.36297	T	0.896214962005615	0.54790	D	0.717028	0.32946	T	0.66919404	0.76389	0.69928217	0.82285	0.66919404	0.76391	0.69928217	0.82286	-9.75	0.72402	D	.	.	0.907	0.85273	P	.;.	.;.	3.846529	0.55689	23.6	0.99787954193147543	0.87396	0.97583	0.75704	D	AEFBI	0.698134	0.65591	D	0.515974743748389	0.68034	5.161935	0.389533307943009	0.60919	4.285059	0.975632487977862	0.29651	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.58	3.69	0.41483	3.461000	0.52800	7.273000	0.57997	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0875:0.1685:0.744:0.0	7.420	0.26238	334	0.86273	High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	36.12	61	chr1	33864375	.	G	C	36.12	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-3.091;DP=554;ExcessHet=0;FS=514.635;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.39;ReadPosRankSum=0.118;SOR=9.455	GT:AD:DP:GQ:PL	./.:102,0:102:0:0,0,2156	4	0	1	2
chr1	33864536	33864536	C	A	exonic	HMGB4	.	nonsynonymous SNV	HMGB4:NM_001379301:exon1:c.C345A:p.N115K,HMGB4:NM_001352984:exon2:c.C123A:p.N41K,HMGB4:NM_145205:exon2:c.C345A:p.N115K	.	427	1076	19	0	0	19	0.00875173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.621	.	0.0078	0.00698882	0.0094	0.0023	0.0032	0	0.0127	0.0119	0.0044	0.0122	0.0091137	1409	154602	rs61769874	0.0098	0.0098	0.0096	0.0099	0.0106	0.0096	0.0096	0.0104	0.0103	0.0015	0.0046	0.0092	2.519e-05	0.0093	0.0097	0.0105	0.0097	0.0106	0.0079	0.0079	0.0079	0.0080	0.0117	0.0076	0.0074	0.0110	0.0108	0.0020	0.0011	0.0071	0.0092	0	0.0116	0.0170	0.0117	0.0090	0.0087	0.027	0.46513	D	0.029	0.54541	D	.	.	.	.	.	.	0.000049	0.53742	D	0.118681	1	0.81001	D	3.01	0.86067	M	-4.9	0.98333	D	-3.41	0.67129	D	0.392	0.43320	0.818	0.94637	D	0.915	0.97197	D	10	0.0122460425	0.00264	T	.	.	.	0.621	0.85301	0.651	0.78858	0.909459114912	0.90855	0.22794373970563533	0.22709	0.0582104493871	0.06448	0.61914151907	0.55608	T	0.625388	0.88318	D	-0.302978	0.08382	T	-0.19566	0.55057	T	0.0551873799059558	0.06388	T	0.546045	0.18695	T	0.32978013	0.55453	0.29031798	0.55054	0.32978013	0.55453	0.29031798	0.55053	-4.847	0.35134	T	.	.	0.513	0.65167	A	.;.	.;.	1.936107	0.24588	16.45	0.99433507769984386	0.64374	0.30851	0.24188	N	AEFBI	0.152684	0.27740	N	-0.164568584820478	0.34616	1.978042	-0.339843534843139	0.26825	1.484254	0.304339413000223	0.19222	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.43	-1.44	0.08391	-1.080000	0.03517	-2.560000	0.03608	-0.204000	0.08590	0.013000	0.18845	0.000000	0.08366	0.904000	0.43992	0.0:0.481:0.0:0.519	9.033	0.35431	334	0.86273	High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.005051	0.014946	0.000000	0.000000	0.017241	0.009146	0.015152	0.07143	1977.44	46	chr1	33864536	.	C	A	1977.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.102;DP=397;ExcessHet=0;FS=4.513;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-0.706;SOR=0.837	GT:AD:DP:GQ:PL	0/1:84,80:164:99:1988,0,2087	6	0	1	0
chr1	34794607	34794607	C	T	exonic	GJA4	.	nonsynonymous SNV	GJA4:NM_002060:exon2:c.C394T:p.R132C	.	171	1306	40	5	0	50	0.0187829	.	.	.	707363	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.405	.	0.0068	0.00419329	0.0095	0.0017	0.0062	0	0.0081	0.0116	0.0146	0.0134	0.0089003	1376	154602	rs61777220	0.0098	0.0098	0.0096	0.0100	0.0200	0.0097	0.0096	0.0170	0.0159	0.0013	0.0053	0.0206	2.519e-05	0.0098	0.0200	0.0099	0.0103	0.0140	0.0079	0.0079	0.0080	0.0077	0.0143	0.0075	0.0073	0.0116	0.0106	0.0018	0	0.0076	0.0248	0	0.0082	0.0238	0.0108	0.0114	0.0143	0.046	0.40832	D	0.035	0.56640	D	0.946	0.53363	P	0.333	0.42166	B	0.484983	0.12122	N	0.687923	0.769098	0.34129	D	1.39	0.34934	L	-4.47	0.97713	D	-2.02	0.46503	N	0.226	0.25377	0.695	0.93112	D	0.764	0.91963	D	10	0.007856071	0.00178	T	.	.	.	0.405	0.71791	.	.	0.970688122384	0.97037	0.5812088919128856	0.58049	0.819732499615	0.67100	0.345710337162	0.17288	T	0.728999	0.92399	D	-0.201871	0.20535	T	-0.0510736	0.66950	D	0.0201127774959818	0.00712	T	0.857914	0.57225	D	0.15551671	0.35143	0.09299633	0.21943	0.15551671	0.35143	0.09299633	0.21943	-8.933	0.67264	D	.	.	0.124	0.26607	B	.;.	.;.	3.433884	0.47740	22.5	0.99798233082737386	0.88283	0.71097	0.34867	D	AEFDBCI	0.438362	0.49778	N	0.0598603509916537	0.44597	2.730857	0.0723636387507308	0.43165	2.62392	0.907594485952564	0.26263	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.620976	0.48614	0	.	.	5.11	4.13	0.47661	3.749000	0.54867	2.695000	0.34117	0.599000	0.40250	1.000000	0.71638	0.992000	0.31684	0.659000	0.32940	0.377:0.623:0.0:0.0	11.059	0.47153	918	0.19598	Connexin, N-terminal;Connexin, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017120	0.000000	0.019022	0.029240	0.050000	0.017241	0.018293	0.007576	0.07143	1527.46	52	chr1	34794607	.	C	T	1527.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.967;DP=337;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.346;SOR=0.667	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr1	35479104	35479104	C	T	exonic	KIAA0319L	.	nonsynonymous SNV	KIAA0319L:NM_024874:exon4:c.G775A:p.A259T	.	421	1099	2	0	0	2	0.000909091	.	.	.	746449	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.012	0.00508870956234	.	0.00159744	0.0006	0	0	0	0	0	0.0011	0.0044	0.0005369	83	154602	rs376586052	0.0003	0.0003	0.0002	0.0004	0.0043	0.0002	0.0002	0.0040	0.0038	0	0	0	0	0	0.0002	8.993e-07	0.0003	0.0043	0.0002	0.0002	0.0001	0.0003	0.0064	0.0001	0.0001	0.0047	0.0041	0	0	0	0	0	0	0	0	0	0.0064	0.787	0.03441	T	0.588	0.15890	T	0.0	0.02946	B	0.0	0.01387	B	0.937420	0.08378	N	0.969776	1	0.08975	N	-0.345	0.03330	N	3.32	0.41058	T	0.26	0.12099	N	0.021	0.00339	-0.9888	0.32903	T	0.024	0.10329	T	10	0.0045935214	0.00096	T	0.005089	0.12908	T	0.015	0.02232	0.121	0.02793	0.251639045875	0.24756	0.14410201879784762	0.14333	0.262950019928	0.28855	0.250341773033	0.03803	T	0.014645	0.12428	T	-0.614797	0.00118	T	-0.65576	0.08555	T	0.00955122509668605	0.00124	T	0.476352	0.15685	T	0.023614781	0.01116	0.04100996	0.04563	0.023614781	0.01116	0.04100996	0.04563	-2.871	0.08857	T	.	.	0.064	0.04002	B	.;.;.;.	.;.;.;.	-0.129654	0.03469	0.645	0.18728187106851796	0.00601	0.00935	0.03619	N	AEFBI	0.031905	0.03505	N	-0.937968959717558	0.09965	0.4739812	-0.987844184255813	0.10058	0.5041932	0.00172798370414775	0.08818	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.37	0.798	0.17803	-0.160000	0.10029	-0.347000	0.09772	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4562:0.0:0.5438	6.108	0.19305	347	0.85595	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1282.63	33	chr1	35479104	.	C	T	1282.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.382;DP=282;ExcessHet=0;FS=0.726;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.05;SOR=0.574	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	6	0	1	0
chr1	35764667	35764667	C	A	exonic	CLSPN	.	nonsynonymous SNV	CLSPN:NM_001190481:exon3:c.G181T:p.V61F,CLSPN:NM_001330490:exon3:c.G181T:p.V61F,CLSPN:NM_022111:exon3:c.G181T:p.V61F	.	431	1089	2	0	0	2	0.000917431	.	.	.	2371948	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.0087830815466	.	.	0.0002	0	0	0.0001	0	4.632e-05	0	0.0013	0.0001617	25	154602	rs148367321	0.0002	0.0002	0.0002	0.0002	0.0011	0.0002	0.0002	0.0009	0.0009	3.142e-05	0	0	5.069e-05	1.888e-05	0	0.0002	0.0003	0.0011	3.94e-05	3.937e-05	2.57e-05	5.371e-05	0.0006	1.714e-05	1.129e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	4.41e-05	0	0.0006	0.002	0.72154	D	0.12	0.51421	T	0.785	0.44430	P	0.258	0.39350	B	0.057353	0.22488	N	0.459798	0.971642	0.25642	N	2.42	0.70002	M	1.48	0.32958	T	-1.61	0.39119	N	0.251	0.28732	-1.0678	0.09903	T	0.056	0.23450	T	10	0.028873593	0.01016	T	0.008783	0.23172	T	0.018	0.03083	0.248	0.18447	0.0934897674506	0.08844	0.09250382552451873	0.09182	0.118575790678	0.13351	0.334983289242	0.15685	T	0.019693	0.15640	T	-0.451502	0.01107	T	-0.471768	0.25325	T	0.0988848583967573	0.12234	T	0.487551	0.16094	T	0.21532752	0.43962	0.13369219	0.32054	0.21532752	0.43962	0.13369219	0.32053	-5.025	0.39013	T	.	.	0.126	0.27523	B	.;.;.;.	.;.;.;.	1.326192	0.17311	13.09	0.99425898533871593	0.64032	0.76507	0.37528	D	AEFBI	0.083537	0.16925	N	-0.272023749363429	0.30233	1.683833	-0.160429118526701	0.33009	1.883757	0.999788028467876	0.43007	0.706298	0.61202	0	0.662677	0.63036	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	6.03	2.84	0.32241	0.861000	0.27540	0.869000	0.22297	-1.705000	0.00752	0.980000	0.35271	0.719000	0.26340	0.580000	0.30894	0.1273:0.6525:0.2201:0.0	12.396	0.54718	197	0.92378	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	813.44	33	chr1	35764667	.	C	A	813.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.636;DP=239;ExcessHet=0;FS=2.11;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=1.46;SOR=0.446	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr1	35893699	35893699	T	C	exonic	AGO1	.	nonsynonymous SNV	AGO1:NM_001317123:exon5:c.T313C:p.F105L,AGO1:NM_012199:exon5:c.T538C:p.F180L	.	.	.	.	.	.	.	.	.	.	.	3410830	Neurodevelopmental_disorder_with_language_delay_and_behavioral_abnormalities,_with_or_without_seizures	MONDO:MONDO:0859531,MedGen:C5830365,OMIM:620292	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.568	0.0229606487875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.034	0.52727	D	1.0	0.90584	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.915	0.96218	H	2.46	0.14907	T	-5.06	0.84035	D	0.768	0.78262	-0.7202	0.59453	T	0.162	0.49847	T	10	0.89623165	0.88977	D	0.022961	0.45892	T	0.568	0.82403	0.779	0.90388	0.802232369921	0.80038	0.993201515706154	0.99316	3.04366087562	0.99282	0.878757357597	0.93792	D	0.62429	0.88270	D	0.185229	0.72523	D	0.0282919	0.72166	D	0.996070146560669	0.88617	D	0.987451	0.95727	D	0.9089342	0.92195	0.8528399	0.91695	0.9089342	0.92196	0.8528399	0.91695	-11.044	0.79899	D	.	.	1.000	0.99795	P	.;.	.;.	4.964515	0.82109	27.7	0.99864336740853044	0.94276	0.95648	0.65567	D	AEFBCI	0.891088	0.82672	D	0.912615693883797	0.92363	11.38088	0.873545015308619	0.94315	12.66482	0.999999999999918	0.74766	0.706548	0.73137	0	0.71359	0.82159	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.93	5.93	0.95888	7.822000	0.84804	7.856000	0.71202	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.374	0.83208	146	0.94180	Argonaute, linker 1 domain|Argonaute, linker 1 domain;Argonaute, linker 1 domain|Argonaute, linker 1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr1	35893699	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=198;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,979	6	1	0	0
chr1	36086965	36086965	C	T	exonic	TEKT2	.	nonsynonymous SNV	TEKT2:NM_014466:exon6:c.C667T:p.R223W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.0155162695842	.	.	2.476e-05	0	0	0	0	4.505e-05	0	0	1.94e-05	3	154602	rs764463439	4.789e-06	4.788e-06	8.169e-06	1.375e-06	6.708e-05	1.99e-06	1.28e-06	1.779e-05	8.93e-06	2.987e-05	6.708e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.009	0.66756	D	0.992	0.64738	D	0.638	0.52030	P	0.435866	0.12690	N	0.785106	0.788281	0.34353	D	2.05	0.56469	M	4.19	0.02716	T	-4.32	0.76655	D	0.388	0.42931	-1.0209	0.23421	T	0.021	0.09009	T	10	0.32329768	0.49669	T	0.015516	0.36297	T	0.131	0.35738	0.476	0.55342	0.202086224978	0.19791	0.48500456909152456	0.48420	0.388996708406	0.40150	0.20515230298	0.00622	T	0.324381	0.69520	T	-0.260128	0.12884	T	-0.435586	0.29302	T	0.873127996921539	0.52299	D	0.712229	0.32360	T	0.38991186	0.60026	0.43112573	0.66740	0.38991186	0.60026	0.43112573	0.66741	-8.462	0.64177	D	.	.	0.104	0.18828	B	.	.	4.228053	0.63999	24.6	0.99915931618305298	0.98379	0.96311	0.68520	D	AEFDBCIJ	0.732012	0.67891	D	0.436844451611095	0.63460	4.580217	0.436260715485473	0.63840	4.625868	0.999999895200266	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.64	4.71	0.59010	2.360000	0.43805	1.882000	0.29459	0.599000	0.40250	0.226000	0.24601	0.910000	0.28117	0.972000	0.54974	0.1372:0.8628:0.0:0.0	15.788	0.78090	176	0.93188	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	950.44	79	chr1	36086965	.	C	T	950.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.55;DP=266;ExcessHet=0;FS=4.519;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-0.193;SOR=1.272	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1340	6	0	1	0
chr1	36456246	36456246	G	C	exonic	MRPS15	.	nonsynonymous SNV	MRPS15:NM_031280:exon7:c.C577G:p.P193A	.	431	1084	6	0	1	7	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	.	.	0.0103834	0.0060	0.0002	0.0003	0	0	6.008e-05	0.0022	0.0436	0.0052522	812	154602	rs201522148	0.0028	0.0028	0.0016	0.0040	0.0439	0.0027	0.0027	0.0427	0.0422	0.0001	0.0002	0	0.0002	0	0.0010	7.284e-05	0.0026	0.0439	0.0015	0.0015	0.0008	0.0023	0.0449	0.0014	0.0013	0.0400	0.0381	9.624e-05	0	0.0002	0	0.0004	0	0	8.835e-05	0.0005	0.0449	0.023	0.48186	D	0.029	0.54541	D	0.908	0.50127	P	0.527	0.48453	P	0.000006	0.62929	D	0.146573	0.999996	0.58761	D	2.14	0.59869	M	.	.	.	-5.4	0.85103	D	0.406	0.44666	-0.3091	0.74730	T	0.320	0.68882	T	9	0.004027784	0.00078	T	.	.	.	0.402	0.71558	.	.	0.637113853397	0.63413	0.43436745631338997	0.43353	0.597807685971	0.54967	0.380589306355	0.22339	T	0.388229	0.74896	T	-0.303701	0.08315	T	-0.177605	0.56744	T	0.0898948957610165	0.11206	T	0.713029	0.32487	T	0.22880065	0.45606	0.24839096	0.50388	0.22880065	0.45606	0.24839096	0.50387	-9.134	0.68555	D	.	.	0.200	0.42302	B	.	.	2.808836	0.36971	20.4	0.9930085584776398	0.58613	0.98848	0.87654	D	AEFBI	0.644050	0.62044	D	0.53193251129426	0.68988	5.293776	0.53074201271359	0.70068	5.451288	0.999995593311148	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	5.26	0.73479	6.279000	0.72647	1.902000	0.29588	-0.107000	0.15377	1.000000	0.71638	0.979000	0.30280	0.935000	0.47363	0.0:0.0:0.8634:0.1366	15.845	0.78661	126	0.94940	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.026515	0.08333	539.27	33	chr1	36456246	.	G	C	539.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.968;DP=219;ExcessHet=0;FS=1.097;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=1.33;SOR=0.518	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1096	5	0	1	1
chr1	37481735	37481735	G	A	exonic	ZC3H12A	.	nonsynonymous SNV	ZC3H12A:NM_001323550:exon4:c.G718A:p.V240M,ZC3H12A:NM_025079:exon4:c.G718A:p.V240M	.	431	1089	2	0	0	2	0.000917431	.	.	.	718953	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.212	.	0.0033	0.00459265	0.0015	0.0101	0.0028	0	0	0.0005	0.0033	0.0002	0.0015006	232	154602	rs16824179	0.0007	0.0007	0.0007	0.0007	0.0093	0.0007	0.0007	0.0085	0.0082	0.0093	0.0028	0.0017	0	1.872e-05	0.0029	0.0004	0.0018	3.478e-05	0.0034	0.0034	0.0037	0.0030	0.0090	0.0032	0.0031	0.0083	0.0080	0.0090	0	0.0061	0.0014	0	0	0.0136	0.0004	0.0066	0	0.001	0.78490	D	0.003	0.76473	D	0.996	0.68779	D	0.951	0.68939	D	0.000261	0.46924	D	0.194778	0.999632	0.47961	D	1.32	0.33002	L	0.36	0.57880	T	-2.17	0.49018	N	0.465	0.50146	-0.5758	0.65784	T	0.228	0.59334	T	10	0.010192007	0.00228	T	.	.	.	0.212	0.50341	.	.	0.441718965978	0.43790	0.7387463863772741	0.73819	1.24570123189	0.81673	0.590616583824	0.51581	T	0.244948	0.61416	T	-0.122497	0.32716	T	0.0592264	0.74193	D	0.0312080055479436	0.02180	T	0.890711	0.62701	D	0.43634623	0.63166	0.31879312	0.57844	0.43634623	0.63167	0.31879312	0.57843	-9.174	0.68810	D	.	.	0.742	0.82086	P	.;.	.;.	4.449030	0.69149	25.3	0.99849068241283045	0.92838	0.86028	0.45235	D	ALL	0.112916	0.22301	N	0.594488125031861	0.72831	5.867849	0.532305901987915	0.70176	5.466868	0.999999999879028	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.606735	0.37207	0	0.635551	0.53088	0	.	.	5.8	4.7	0.58776	4.380000	0.59348	7.338000	0.58235	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.466000	0.28252	0.1887:0.0:0.8113:0.0	11.727	0.50979	882	0.29131	Ribonuclease Zc3h12a-like, NYN domain;Ribonuclease Zc3h12a-like, NYN domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.020202	0.014946	0.005848	0.000000	0.000000	0.000000	0.003788	0.07143	2239.46	34	chr1	37481735	.	G	A	2239.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.731;DP=393;ExcessHet=0;FS=1.744;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-3.151;SOR=0.836	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1214	6	0	1	0
chr1	37567690	37567690	C	T	exonic	GNL2	.	nonsynonymous SNV	GNL2:NM_001323624:exon14:c.G1477A:p.A493T,GNL2:NM_013285:exon15:c.G2026A:p.A676T,GNL2:NM_001323623:exon16:c.G2230A:p.A744T	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00365839866809	0.0013	0.00139776	0.0013	0.0018	0.0015	0	0	0.0015	0.0011	0.0015	0.0013001	201	154602	rs34593152	0.0009	0.0009	0.0009	0.0010	0.0099	0.0009	0.0009	0.0078	0.0071	0.0027	0.0020	0.0154	0	0	0.0099	0.0004	0.0024	0.0014	0.0019	0.0019	0.0019	0.0019	0.0031	0.0017	0.0017	0.0024	0.0022	0.0022	0	0.0031	0.0199	0	0	0.0272	0.0009	0.0052	0.0017	0.609	0.05485	T	0.477	0.12002	T	0.0	0.02946	B	0.0	0.01387	B	0.427818	0.12787	N	0.748396	1	0.08975	N	-1.79	0.00298	N	1.97	0.22067	T	0.06	0.06253	N	0.04	0.01347	-0.9685	0.37510	T	0.013	0.05273	T	10	0.0041558146	0.00082	T	0.003658	0.08433	T	0.050	0.13987	.	.	0.257292322809	0.25322	0.05750927210635932	0.05691	0.104674418021	0.11842	0.263011455536	0.05253	T	0.014382	0.12256	T	-0.690041	0.00042	T	-0.770449	0.02753	T	0.00183060770153295	0.00019	T	0.280872	0.04893	T	0.017562546	0.00283	0.03358186	0.02276	0.017562546	0.00283	0.03358186	0.02276	-3.822	0.21134	T	.	.	0.062	0.01348	B	.	.	0.973245	0.13505	10.03	0.70732174364302325	0.09392	0.01319	0.04561	N	AEFBI	0.038830	0.05552	N	-1.06880963311266	0.07224	0.3349233	-0.946974641750875	0.10993	0.5573292	0.446568036870341	0.20501	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.45	3.33	0.37245	1.996000	0.40396	1.177000	0.24667	-0.341000	0.05685	0.948000	0.32982	0.893000	0.27858	0.008000	0.08271	0.0:0.1011:0.0:0.8989	7.796	0.28314	912	0.21483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008073	0.020408	0.010870	0.008772	0.000000	0.000000	0.006135	0.000000	0.07143	1245.49	35	chr1	37567690	.	C	T	1245.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.179;DP=269;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-1.044;SOR=0.679	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1108	6	0	1	0
chr1	37689816	37689816	T	C	exonic	C1orf109	.	nonsynonymous SNV	C1orf109:NM_001303030:exon2:c.A251G:p.E84G,C1orf109:NM_001303031:exon2:c.A254G:p.E85G,C1orf109:NM_001350755:exon2:c.A254G:p.E85G,C1orf109:NM_001350756:exon2:c.A251G:p.E84G,C1orf109:NM_001350760:exon2:c.A65G:p.E22G,C1orf109:NM_001350761:exon2:c.A65G:p.E22G,C1orf109:NM_001350764:exon2:c.A65G:p.E22G,C1orf109:NM_001350769:exon2:c.A65G:p.E22G,C1orf109:NM_001350770:exon2:c.A65G:p.E22G,C1orf109:NM_001350771:exon2:c.A65G:p.E22G,C1orf109:NM_017850:exon2:c.A65G:p.E22G,C1orf109:NM_001350757:exon3:c.A254G:p.E85G,C1orf109:NM_001350759:exon3:c.A251G:p.E84G,C1orf109:NM_001350766:exon3:c.A65G:p.E22G,C1orf109:NM_001350768:exon3:c.A65G:p.E22G,C1orf109:NM_001350758:exon4:c.A251G:p.E84G,C1orf109:NM_001350762:exon4:c.A65G:p.E22G,C1orf109:NM_001350763:exon4:c.A65G:p.E22G,C1orf109:NM_001350765:exon4:c.A65G:p.E22G,C1orf109:NM_001350767:exon4:c.A65G:p.E22G	.	426	1085	11	0	0	11	0.00504356	.	.	.	2251460	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.065	0.00375101218661	0.0005	0.000599042	0.0006	0.0014	0.0011	0	0	0.0004	0.0012	0.0010	0.0005498	85	154602	rs148859861	0.0005	0.0005	0.0004	0.0005	0.0017	0.0004	0.0004	0.0013	0.0012	0.0017	0.0008	3.837e-05	0	0.0002	0.0005	0.0004	0.0005	0.0010	0.0006	0.0006	0.0006	0.0006	0.0012	0.0005	0.0005	0.0009	0.0008	0.0012	0	0.0003	0	0	0.0006	0.0068	0.0004	0.0005	0.0008	0.005	0.63226	D	0.008	0.69154	D	0.51	0.37313	P	0.295	0.40843	B	0.079175	0.21000	N	0.534882	0.994911	0.23414	N	2.62	0.76659	M	.	.	.	-4.02	0.74269	D	0.246	0.27792	-0.9949	0.31326	T	0.112	0.40122	T	9	0.019885123	0.00450	T	0.003751	0.08713	T	0.065	0.18881	.	.	0.482357354261	0.47867	0.24656529055381673	0.24570	0.446814636077	0.44548	.	.	.	0.249044	0.61893	T	-0.389662	0.02704	T	-0.373032	0.36533	T	0.0370971271246813	0.03172	T	0.705629	0.33902	T	0.2671308	0.49784	0.33372772	0.59206	0.2671308	0.49784	0.33372772	0.59206	-5.023	0.37089	T	.	.	0.091	0.18372	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.055667	0.41018	21.3	0.99824226208270916	0.90677	0.55033	0.29763	D	ALL	0.176235	0.30344	N	-0.0177359974260688	0.41053	2.448763	-0.025940280019742	0.38547	2.273	1.0	0.98316	0.627647	0.40530	0	0.52208	0.09955	0	0.672317	0.60874	0	0.241949	0.04745	2	.	.	5.34	2.92	0.32998	0.488000	0.22080	1.543000	0.27241	0.665000	0.62972	0.099000	0.22773	0.967000	0.29559	0.930000	0.46718	0.0:0.0:0.2904:0.7096	11.314	0.48617	880	0.29376	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	166.46	35	chr1	37689816	.	T	C	166.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.292;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-0.168;SOR=1.022	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr1	37761552	37761552	C	G	exonic	EPHA10	.	nonsynonymous SNV	EPHA10:NM_001099439:exon3:c.G703C:p.E235Q,EPHA10:NM_173641:exon3:c.G703C:p.E235Q	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.0597257414608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1192027150	2.074e-06	2.052e-06	0	4.169e-06	3.5e-05	5.5e-07	1.5e-07	9.3e-06	4.58e-06	0	0	0	0	0	0	0	0	3.5e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.55530	D	0.041	0.50514	D	0.994	0.70673	D	0.829	0.70027	P	0.000672	0.42516	D	0.000000	0.619927	0.30789	N	1.945	0.52268	M	-1.13	0.77719	T	-2.08	0.60827	N	0.514	0.54496	0.022	0.82690	D	0.523	0.82206	D	10	0.4555661	0.58967	T	0.059726	0.67761	D	0.183	0.45592	0.374	0.38667	0.933137806945	0.93245	0.6850399854379573	0.68442	1.69600566787	0.90213	0.86739897728	0.92194	D	0.040687	0.25608	T	-0.00895452	0.50413	T	-0.150009	0.59242	T	0.828084707260132	0.48382	D	0.939106	0.77081	D	0.13828273	0.31987	0.10990055	0.26492	0.13828273	0.31987	0.10990055	0.26491	-7.197	0.55460	T	.	.	0.263	0.53253	B	.;.;.	.;.;.	3.940185	0.57647	23.9	0.99815691061547007	0.89885	0.89171	0.49477	D	AEFDBHCI	0.751055	0.69198	D	0.630321125973971	0.75101	6.246835	0.601654722495762	0.75060	6.244166	0.125467408239722	0.16979	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.542086	0.14980	0	.	.	4.4	4.4	0.52402	4.036000	0.57015	7.663000	0.64347	0.585000	0.30472	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.9074:0.0:0.0926	10.172	0.42089	850	0.35610	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	772.63	33	chr1	37761552	.	C	G	772.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.19;DP=242;ExcessHet=0;FS=1.098;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.1;ReadPosRankSum=1.36;SOR=0.527	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr1	37865831	37865831	T	C	exonic	INPP5B	.	nonsynonymous SNV	INPP5B:NM_001297434:exon16:c.A1952G:p.E651G,INPP5B:NM_001350227:exon16:c.A1784G:p.E595G,INPP5B:NM_001350228:exon19:c.A1784G:p.E595G,INPP5B:NM_001365822:exon21:c.A2378G:p.E793G,INPP5B:NM_001365825:exon21:c.A2087G:p.E696G,INPP5B:NM_001365820:exon22:c.A2444G:p.E815G,INPP5B:NM_001365821:exon22:c.A2438G:p.E813G,INPP5B:NM_005540:exon22:c.A2444G:p.E815G,INPP5B:NM_001365823:exon23:c.A2249G:p.E750G,INPP5B:NM_001365824:exon23:c.A2249G:p.E750G	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	0.0860939280911	.	0.000199681	0.0003	0	0	0	0	1.498e-05	0	0.0019	0.0002135	33	154602	rs535289020	0.0001	0.0001	6.672e-05	0.0002	0.0021	0.0001	0.0001	0.0018	0.0017	0	0	0	0	7.495e-05	0.0002	8.994e-07	4.969e-05	0.0021	5.912e-05	5.906e-05	5.141e-05	6.717e-05	0.0017	3.076e-05	2.209e-05	0.0008	0.0006	0	0	0	0	0	0	0	1.47e-05	0	0.0017	0.001	0.78490	D	0.005	0.76473	D	0.993	0.65571	D	0.919	0.65474	D	0.000001	0.84330	D	0.053624	1	0.81001	D	3.465	0.92394	M	0.75	0.50192	T	-5.68	0.87223	D	0.9	0.90025	-0.2176	0.77215	T	0.335	0.70199	T	10	0.3181802	0.49220	T	0.086094	0.74666	D	0.619	0.85196	0.656	0.79379	0.833641578027	0.83205	0.7346717438450981	0.73412	0.825756001422	0.67397	0.566909253597	0.48241	T	0.264936	0.63676	T	-0.0176621	0.49184	T	0.195686	0.82890	D	0.439970338708937	0.30428	T	0.938606	0.76932	D	0.90743226	0.92057	0.90131605	0.95070	0.90743226	0.92058	0.90131605	0.95070	-13.016	0.92351	D	.	.	0.488	0.69464	A	.;.;.;.	.;.;.;.	4.830322	0.78760	27.0	0.99927521291000754	0.99163	0.95569	0.65245	D	ALL	0.896087	0.83680	D	0.815440498131776	0.87063	9.090245	0.758835634297325	0.86815	9.012008	0.999999999999999	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.09	5.09	0.68647	7.269000	0.77878	7.922000	0.74576	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.050	0.71527	815	0.41851	.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1112.46	37	chr1	37865831	.	T	C	1112.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.804;DP=268;ExcessHet=0;FS=0.839;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=0.78;SOR=0.823	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr1	37969440	37969440	G	C	exonic	SF3A3	.	nonsynonymous SNV	SF3A3:NM_001320830:exon12:c.C1036G:p.L346V,SF3A3:NM_006802:exon14:c.C1195G:p.L399V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.695	0.0404402354651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.005	0.72224	D	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.48	0.92553	M	.	.	.	-2.62	0.56301	D	0.735	0.73555	0.330	0.88030	D	0.601	0.85821	D	9	0.8010634	0.79507	D	0.04044	0.59376	D	0.695	0.88960	0.666	0.80401	0.502157479645	0.49853	0.9475430450175392	0.94737	2.2311931778	0.95933	0.866872191429	0.92117	D	0.474386	0.80585	T	0.382666	0.88879	D	0.311897	0.88739	D	0.968859957868249	0.68386	D	0.985781	0.95172	D	0.83350277	0.86148	0.68840945	0.81671	0.83350277	0.86150	0.68840945	0.81671	-10.738	0.78201	D	.	.	0.999	0.98631	P	.	.	5.166724	0.86585	29.0	0.99865253356157146	0.94366	0.98916	0.88583	D	AEFBI	0.696538	0.65485	D	0.88846885093404	0.91182	10.756	0.81904994074954	0.91085	10.71129	0.999999998534391	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	4.656000	0.61178	11.718000	0.94767	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	19.786	0.96436	458	0.78890	Domain of unknown function DUF3449	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	31.25	53	chr1	37969440	.	G	C	31.25	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.381;DP=401;ExcessHet=0;FS=413.658;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=-1.129;SOR=9.269	GT:AD:DP:GQ:PL	0/1:41,19:73:41:41,0,670	5	0	1	1
chr1	38018559	38018559	G	C	exonic	UTP11	.	nonsynonymous SNV	UTP11:NM_016037:exon4:c.G324C:p.K108N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.490	0.0167503973626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0022	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0006	4.502e-05	0.0002	5.069e-05	0	0.0002	0.0007	0.0005	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.011	0.64786	D	0.999	0.77913	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	3.19	0.88972	M	.	.	.	-4.29	0.76414	D	0.835	0.83066	-0.2270	0.76966	T	0.449	0.78378	T	9	0.83418137	0.82576	D	0.01675	0.38152	T	0.490	0.77720	0.658	0.79585	0.617871938043	0.61477	0.7476237047205977	0.74708	0.921248380214	0.71459	0.757096290588	0.75498	T	0.412309	0.76651	T	0.0450001	0.57697	T	-0.173137	0.57156	T	0.995210707187653	0.87030	D	0.915408	0.69775	D	0.9537454	0.96647	0.87148213	0.92969	0.9537454	0.96648	0.87148213	0.92969	-9.692	0.72047	D	.	.	0.956	0.87520	P	.	.	3.385722	0.46848	22.4	0.99798773293668863	0.88372	0.86532	0.45832	D	AEFBI	0.315619	0.42014	N	0.307375534586297	0.56526	3.817	0.217027884145324	0.50791	3.267573	0.186501081710576	0.17944	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.07	2.22	0.27116	0.341000	0.19652	2.649000	0.33803	-0.102000	0.15922	0.995000	0.38783	1.000000	0.68203	0.994000	0.71098	0.729:0.0:0.271:0.0	9.297	0.36983	409	0.82198	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	124.49	35	chr1	38018559	.	G	C	124.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.868;DP=258;ExcessHet=0;FS=45.619;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.98;ReadPosRankSum=0.682;SOR=5.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1081:.	6	0	1	0
chr1	38018561	38018564	GGGT	-	exonic	UTP11	.	frameshift deletion	UTP11:NM_016037:exon4:c.326_329del:p.R109Mfs*10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.578e-05	6.777e-05	2.184e-05	9.651e-06	3e-05	1.051e-05	8.78e-06	1.217e-05	1.033e-05	3e-05	0	0	0	0	0	1.894e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	124.42	35	chr1	38018560	.	AGGGT	A	124.42	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.468;DP=256;ExcessHet=0;FS=22.825;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.98;ReadPosRankSum=0.061;SOR=4.163	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1081:.	6	0	1	0
chr1	38018564	38018564	-	CCCC	exonic	UTP11	.	frameshift insertion	UTP11:NM_016037:exon4:c.329_330insCCCC:p.A111Pfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	125.18	33	chr1	38018564	.	T	TCCCC	125.18	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.446;DP=221;ExcessHet=0;FS=22.825;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.01;ReadPosRankSum=-0.394;SOR=4.163	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,102,1476:.	5	0	1	1
chr1	39413312	39413312	C	T	exonic	KIAA0754	.	nonsynonymous SNV	KIAA0754:NM_015038:exon1:c.C3047T:p.P1016L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0104463683657	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1488582385	7.128e-07	6.841e-07	1.409e-06	0	9.234e-07	0	0	.	.	0	0	0	0	0	0	9.234e-07	0	0	1.372e-05	1.982e-05	2.673e-05	0	3.036e-05	2.28e-06	8.5e-07	5.04e-06	1.89e-06	0	0	0	0	0	0	0	3.036e-05	0	0	.	.	.	0.024	0.56640	D	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.116	0.10483	-1.0157	0.25110	T	0.047	0.20156	T	9	0.085321724	0.14392	T	0.010446	0.27001	T	0.012	0.01476	.	.	0.082315109003	0.07666	.	.	0.124617667741	0.14036	0.400497734547	0.25138	T	0.15428	0.49550	T	-0.215794	0.18571	T	-0.547749	0.17543	T	0.139229617109495	0.16209	T	0.607039	0.22875	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.26325	B	.;.	.;.	0.491678	0.08608	5.377	0.93923174758695671	0.23967	0.05872	0.11819	N	AEFDBI	0.052740	0.09441	N	-0.838064484052613	0.12346	0.601202	-0.880272394537612	0.12561	0.6468877	0.999692310363087	0.41870	0.722319	0.85440	0	0.379588	0.06130	0	0.696353	0.63694	0	0.735409	0.98432	0	.	.	4.25	2.35	0.28166	-1.327000	0.02789	-2.055000	0.04281	0.452000	0.21348	0.000000	0.06391	0.000000	0.08366	0.061000	0.16044	0.0:0.6787:0.0:0.3213	6.125	0.19391	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	25	chr1	39413312	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=140;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:31,0:31:81:0,81,1215	6	1	0	0
chr1	40060154	40060154	G	A	exonic	CAP1	.	nonsynonymous SNV	CAP1:NM_001105530:exon3:c.G200A:p.G67E,CAP1:NM_001330502:exon3:c.G197A:p.G66E,CAP1:NM_001350476:exon3:c.G200A:p.G67E,CAP1:NM_001350477:exon3:c.G200A:p.G67E,CAP1:NM_001350479:exon3:c.G200A:p.G67E,CAP1:NM_001350480:exon3:c.G200A:p.G67E,CAP1:NM_001350481:exon3:c.G200A:p.G67E,CAP1:NM_001350482:exon3:c.G197A:p.G66E,CAP1:NM_001350483:exon3:c.G197A:p.G66E,CAP1:NM_001350485:exon3:c.G197A:p.G66E,CAP1:NM_006367:exon3:c.G200A:p.G67E,CAP1:NM_001350475:exon4:c.G200A:p.G67E,CAP1:NM_001350478:exon4:c.G200A:p.G67E,CAP1:NM_001350484:exon4:c.G197A:p.G66E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	0.0373370373379	8.1e-05	.	1.66e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs376589224	2.396e-05	2.463e-05	1.771e-05	3.027e-05	0.0002	1.74e-05	1.54e-05	9.25e-06	4.56e-06	2.989e-05	0	0	0	0.0005	0.0002	3.599e-06	0	3.481e-05	2.628e-05	2.627e-05	1.285e-05	4.035e-05	0.0002	8.14e-06	5.14e-06	.	.	0	0	0	0	0	0.0003	0	0	0	0.0002	0.001	0.91255	D	0.054	0.76473	T	0.992	0.64738	D	0.958	0.70027	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.545	0.74286	M	2.46	0.14907	T	-6.5	0.94196	D	0.792	0.84817	-1.0089	0.27261	T	0.123	0.42631	T	10	0.57711035	0.65642	D	0.037337	0.57553	D	0.425	0.73299	.	.	0.528830345288	0.52531	0.7501960788742058	0.74966	1.17654709579	0.79884	0.712272524834	0.68923	T	0.188494	0.54243	T	-0.018045	0.49132	T	-0.082169	0.64744	T	0.768926739692688	0.44374	D	0.745725	0.40735	T	0.9308595	0.94322	0.9476217	0.98254	0.9308595	0.94323	0.9476217	0.98254	-4.794	0.35328	T	.	.	0.221	0.55264	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.455580	0.69304	25.4	0.99800227409320841	0.88550	0.92216	0.55205	D	AEFDGBCI	0.942564	0.94731	D	0.826759716214696	0.87750	9.326812	0.811330728933706	0.90570	10.46773	0.999999999997821	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.698795	0.65105	0	0.648885	0.59868	0	.	.	5.47	5.47	0.80345	7.479000	0.80115	10.017000	0.83119	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	18.670	0.91465	286	0.88678	Adenylate cyclase-associated CAP, N-terminal;.;Adenylate cyclase-associated CAP, N-terminal;Adenylate cyclase-associated CAP, N-terminal;Adenylate cyclase-associated CAP, N-terminal;Adenylate cyclase-associated CAP, N-terminal;Adenylate cyclase-associated CAP, N-terminal;.;.;Adenylate cyclase-associated CAP, N-terminal;Adenylate cyclase-associated CAP, N-terminal;Adenylate cyclase-associated CAP, N-terminal;Adenylate cyclase-associated CAP, N-terminal;Adenylate cyclase-associated CAP, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	431.27	33	chr1	40060154	.	G	A	431.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.678;DP=201;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.75;ReadPosRankSum=-0.549;SOR=0.722	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	5	0	1	1
chr1	40237683	40237683	T	C	exonic	RLF	.	nonsynonymous SNV	RLF:NM_012421:exon8:c.T2981C:p.F994S	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00664735501012	0.0005	0.000199681	0.0004	0.0003	0	0	0.0003	0.0006	0	0.0002	0.0003816	59	154602	rs147019277	0.0006	0.0006	0.0006	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	5.974e-05	8.944e-05	0	0	0.0004	0.0005	0.0007	0.0008	0.0003	0.0004	0.0004	0.0004	0.0003	0.0008	0.0003	0.0003	0.0005	0.0004	4.81e-05	0	0.0003	0	0	0.0004	0	0.0006	0.0005	0.0008	0.226	0.18562	T	0.507	0.10930	T	0.006	0.13644	B	0.01	0.14941	B	0.041599	0.23933	N	0.472859	1	0.08975	N	1.1	0.28011	L	2.59	0.13317	T	-1.3	0.32590	N	0.167	0.17691	-1.0193	0.23943	T	0.027	0.11707	T	10	0.023788124	0.00633	T	0.006647	0.17557	T	0.084	0.24469	.	.	0.231005064126	0.22704	0.3144841013820252	0.31361	0.758103566617	0.64108	0.436444729567	0.30092	T	0.013034	0.11349	T	-0.462222	0.00952	T	-0.477259	0.24738	T	0.0100472527472527	0.00134	T	0.528347	0.17454	T	0.12935859	0.30215	0.12099004	0.29195	0.12935859	0.30215	0.12099004	0.29195	-2.147	0.03791	T	.	.	0.093	0.13969	B	.	.	1.314946	0.17185	13.01	0.80573174261084302	0.13267	0.47710	0.28044	N	AEFGBI	0.097100	0.19591	N	-0.444119267222908	0.23940	1.289148	-0.332319207715271	0.27061	1.499013	0.999913276624352	0.45857	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.43	5.43	0.79006	1.926000	0.39715	4.083000	0.41752	0.665000	0.62972	0.154000	0.23713	1.000000	0.68203	0.589000	0.31115	0.0:0.0734:0.0:0.9266	10.766	0.45494	764	0.49969	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1750.44	37	chr1	40237683	.	T	C	1750.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.812;DP=348;ExcessHet=0;FS=5.887;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-1.023;SOR=0.678	GT:AD:DP:GQ:PL	0/1:86,67:153:99:1761,0,2393	6	0	1	0
chr1	40546752	40546752	T	-	exonic	ZNF684	.	stopgain	ZNF684:NM_152373:exon5:c.429delT:p.L144*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	42.4	34	chr1	40546751	.	AT	A	42.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=198;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.07;ReadPosRankSum=-1.834;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1014	6	0	1	0
chr1	41382209	41382209	-	GGGACGCCCGCCTACTT	exonic	FOXO6	.	frameshift insertion	FOXO6:NM_001291281:exon3:c.1008_1009insGGGACGCCCGCCTACTT:p.Q337Gfs*163	.	632	828	31	5	26	67	0.0241603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.473e-06	2.806e-05	6.751e-06	1.048e-05	9.272e-06	3.52e-06	2.27e-06	3.86e-06	2.48e-06	0	0	0	0	0	0	9.272e-06	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	176.55	8	chr1	41382209	.	C	CGGGACGCCCGCCTACTT	176.55	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.15;DP=66;ExcessHet=0.4139;FS=2.671;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=-0.189;SOR=2.11	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:8,2:10:60:.:.:60,0,310:.	5	0	1	1
chr1	41382210	41382211	CA	-	exonic	FOXO6	.	frameshift deletion	FOXO6:NM_001291281:exon3:c.1009_1010del:p.Q337Gfs*39	.	632	828	31	5	26	67	0.0241603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	.	0.00073	19	26028	rs373524987	0.0043	0.0026	0.0045	0.0042	0.0067	0.0042	0.0042	0.0046	0.0041	0.0037	0.0031	0.0057	0.0067	0	0.0037	0.0043	0.0050	0.0039	4.089e-05	0.0013	5.307e-05	2.803e-05	4.548e-05	1.768e-05	1.164e-05	1.207e-05	6.35e-06	0	0	0	0	0	0.0004	0	4.548e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	176.55	8	chr1	41382209	.	CCA	C	176.55	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.15;DP=66;ExcessHet=0.4139;FS=2.671;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=-0.189;SOR=2.11	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:8,0:10:60:.:.:60,84,400:.	5	0	1	1
chr1	41382212	41382212	-	GGAC	exonic	FOXO6	.	frameshift insertion	FOXO6:NM_001291281:exon3:c.1011_1012insGGAC:p.A338Gfs*40	.	580	911	21	4	6	35	0.0156672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00073	19	26028	.	0.0043	0.0026	0.0045	0.0042	0.0068	0.0042	0.0042	0.0048	0.0041	0.0038	0.0030	0.0057	0.0068	0	0.0037	0.0043	0.0048	0.0039	4.088e-05	0.0009	5.306e-05	2.803e-05	4.548e-05	1.768e-05	1.164e-05	1.207e-05	6.35e-06	0	0	0	0	0	0.0004	0	4.548e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	101.34	8	chr1	41382212	.	G	GGGAC	101.34	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.53;DP=86;ExcessHet=0;FS=3.332;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.566;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:25,0:25:72:.:.:0,72,1080:.	5	0	1	1
chr1	41510704	41510704	C	T	exonic	HIVEP3	.	nonsynonymous SNV	HIVEP3:NM_001127714:exon8:c.G6965A:p.R2322Q,HIVEP3:NM_024503:exon9:c.G6968A:p.R2323Q	.	441	1015	63	3	0	69	0.0328728	.	.	.	3210888	HIVEP3-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.034	.	0.0033	0.0117812	0.0356	0.0037	0.0047	0	0.0112	0.0201	0.04	0.0835	0.0068046	1052	154602	rs200138511	0.0077	0.0077	0.0066	0.0088	0.0436	0.0076	0.0075	0.0424	0.0419	0.0010	0.0022	0.0082	8.225e-05	0.0020	0.0284	0.0059	0.0077	0.0436	0.0056	0.0056	0.0049	0.0064	0.0464	0.0053	0.0052	0.0414	0.0395	0.0016	0.0044	0.0052	0.0052	0.0004	0.0011	0.0442	0.0063	0.0038	0.0464	0.416	0.09958	T	0.538	0.09829	T	0.003	0.11197	B	0.001	0.04355	B	0.525819	0.05228	N	1.391920	1	0.08975	N	0	0.06538	N	3.39	0.05710	T	0.64	0.02442	N	0.08	0.05542	-0.9292	0.44256	T	0.009	0.03227	T	10	0.0020682514	0.00029	T	.	.	.	0.034	0.08419	.	.	.	.	0.03731201195281724	0.03678	0.214794834796	0.24017	0.266823649406	0.05730	T	0.046228	0.27362	T	-0.750832	0.00017	T	-0.81916	0.01470	T	0.00646410931088923	0.00072	T	0.60194	0.22516	T	0.027802156	0.02024	0.022926616	0.00310	0.027802156	0.02024	0.022926616	0.00310	-3.947	0.23143	T	.	.	0.069	0.03231	B	.;.;.	.;.;.	0.081924	0.04879	1.465	0.97642700603971289	0.35091	0.08842	0.14710	N	AEFBHI	0.070481	0.13993	N	-1.0625697389421	0.07343	0.3407994	-1.03510641758133	0.09019	0.4464783	0.987168077761876	0.31199	0.615465	0.37627	0	0.633656	0.55848	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.9	0.154	0.14196	0.004000	0.13007	-2.331000	0.03890	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.915000	0.45038	0.1449:0.3654:0.2839:0.2058	1.573	0.02460	455	0.79073	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013875	0.005319	0.002770	0.005917	0.000000	0.026316	0.028662	0.034091	0.2143	1812.95	22	chr1	41510704	.	C	T	1812.95	.	AC=3;AF=0.214;AN=14;BaseQRankSum=3.6;DP=201;ExcessHet=0;FS=3.655;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=23.24;ReadPosRankSum=-0.333;SOR=1.222	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1182	5	1	1	0
chr1	42735803	42735803	G	C	exonic	CLDN19	.	nonsynonymous SNV	CLDN19:NM_001185117:exon3:c.C616G:p.Q206E	Hypomagnesemia 5, renal, with ocular involvement, Autosomal recessive	1	1499	22	0	0	22	0.00728477	.	.	.	1274749	Renal_hypomagnesemia_5_with_ocular_involvement|not_provided	MONDO:MONDO:0009548,MedGen:C4721891,OMIM:248190,Orphanet:2196|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.118	0.0151173911199	.	0.000798722	0.0039	0.0021	0	0	0	0.0052	0.0062	0.0036	0.0012678	196	154602	rs199656937	0.0031	0.0030	0.0030	0.0032	0.0106	0.0030	0.0030	0.0085	0.0077	0.0008	0.0014	0.0071	2.794e-05	0.0005	0.0106	0.0033	0.0035	0.0034	0.0017	0.0017	0.0017	0.0018	0.0026	0.0016	0.0015	0.0023	0.0022	0.0006	0	0.0012	0.0040	0	0.0008	0.0103	0.0026	0.0028	0.0017	0.0	0.91255	D	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.06	0.85875	D	0.34	0.03824	N	0.159	0.16586	-0.8451	0.52304	T	0.243	0.61095	T	9	0.0043708086	0.00089	T	0.015117	0.35666	T	0.118	0.32913	.	.	0.471132149292	0.46741	.	.	.	.	.	.	.	.	.	.	-0.439585	0.01300	T	-0.404081	0.32910	T	0.00960231344622355	0.00125	T	0.382862	0.09330	T	.	.	.	.	.	.	.	.	-4.102	0.25320	T	.	.	0.085	0.10256	B	.	.	0.188582	0.05752	2.194	0.50048909106492712	0.04316	0.12048	0.17027	N	AEFBI	0.116089	0.22798	N	-1.18940987684387	0.05160	0.2345465	-1.17931876156142	0.06256	0.300566	0.945552775036207	0.27666	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.17	0.923	0.18539	-0.409000	0.07223	0.808000	0.21724	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1925:0.0:0.649:0.1585	5.542	0.16333	507	0.75469	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.011076	0.016667	0.009915	0.020833	0.000000	0.009615	0.003145	0.007752	0.07143	483.45	36	chr1	42735803	.	G	C	483.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.514;DP=227;ExcessHet=0;FS=4.057;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=0.811;SOR=1.191	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1330	6	0	1	0
chr1	43222837	43222837	-	CAC	exonic	CFAP57	.	nonframeshift insertion	CFAP57:NM_001195831:exon16:c.2546_2547insCAC:p.V849_R850insT,CFAP57:NM_001378189:exon16:c.2546_2547insCAC:p.V849_R850insT	.	2	1507	12	1	0	14	0.00462351	.	.	.	3197253	CFAP57-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00638978	0.0160	0.0016	0.0055	0.0047	0	0	0	0.0431	0.0003842	10	26028	rs549638533	0.0022	0.0021	0.0015	0.0028	0.0248	0.0021	0.0021	0.0239	0.0235	0.0002	0.0005	0	0.0030	2.084e-05	0.0039	0.0007	0.0029	0.0248	0.0013	0.0013	0.0008	0.0019	0.0237	0.0012	0.0011	0.0202	0.0189	0.0003	0	0.0003	0	0.0056	0	0.0102	0.0006	0.0005	0.0237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1150.79	19	chr1	43222837	.	T	TCAC	1150.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.994;DP=197;ExcessHet=0;FS=4.314;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=23.97;ReadPosRankSum=0.359;SOR=0.25	GT:AD:DP:GQ:PL	0/1:19,29:48:99:1161,0,705	6	0	1	0
chr1	43317671	43317671	C	G	exonic	TIE1	.	nonsynonymous SNV	TIE1:NM_001253357:exon16:c.C2593G:p.R865G,TIE1:NM_005424:exon16:c.C2728G:p.R910G	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0226794295719	.	.	8.885e-06	0	0	0	0	1.55e-05	0	0	6.5e-06	1	154602	rs767096356	1.336e-05	1.3e-05	1.111e-05	1.565e-05	1.467e-05	8.54e-06	6.88e-06	8.68e-06	7.03e-06	0	0	0	0	0	0	1.467e-05	5.125e-05	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.075	0.34444	T	0.086	0.40909	T	0.311	0.32818	B	0.079	0.28749	B	0.005451	0.32788	N	0.000000	1	0.81001	D	0.055	0.08163	N	-0.31	0.68030	T	-3.9	0.72932	D	0.628	0.64223	-0.9391	0.42759	T	0.130	0.43927	T	10	0.42453164	0.57085	T	0.022679	0.45590	T	0.252	0.56159	0.518	0.61915	0.797057192974	0.79517	0.6472616862582125	0.64661	1.01917520793	0.75045	0.787860453129	0.80117	T	0.587789	0.86600	D	0.0673356	0.60524	T	-0.115873	0.62140	T	0.644649353959447	0.38234	D	0.831217	0.49813	T	0.40080827	0.60788	0.34614545	0.60287	0.40080827	0.60789	0.34614545	0.60286	-7.872	0.60194	D	.	.	0.155	0.34383	B	.	.	4.024626	0.59468	24.1	0.99587081787087228	0.73395	0.96599	0.69949	D	AEFDBI	0.901801	0.84892	D	-0.0927595659874389	0.37709	2.197827	0.12497176450314	0.45830	2.839252	0.999932457783152	0.46732	0.706298	0.61202	0	0.709663	0.81188	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	5.66	5.66	0.87293	2.306000	0.43333	1.730000	0.28322	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2731:0.7269:0.0:0.0	12.777	0.56834	640	0.64132	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	965.49	33	chr1	43317671	.	C	G	965.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.06;DP=279;ExcessHet=0;FS=2.78;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-0.298;SOR=0.454	GT:AD:DP:GQ:PL	0/1:50,42:92:99:976,0,1162	6	0	1	0
chr1	43387571	43387571	T	C	exonic	MED8	.	nonsynonymous SNV	MED8:NM_052877:exon3:c.A202G:p.T68A,MED8:NM_201542:exon3:c.A202G:p.T68A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.00932019996095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.638	0.05031	T	0.134	0.34241	T	0.998	0.73220	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.74	0.45129	L	.	.	.	-1.48	0.36189	N	0.697	0.71232	-0.6666	0.61982	T	0.302	0.67288	T	9	0.5785539	0.65719	D	0.00932	0.24459	T	0.385	0.70194	0.319	0.29741	0.551838628669	0.54841	0.6455052596675898	0.64485	0.835255353543	0.67791	0.776168107986	0.78349	T	0.067247	0.33153	T	0.246625	0.78284	D	0.116483	0.78001	D	0.830420255661011	0.48563	D	0.856214	0.54490	D	0.1317913	0.30707	0.1989864	0.43759	0.1317913	0.30707	0.1989864	0.43758	-3.25	0.13101	T	.	.	0.326	0.54904	B	.;.	.;.	3.618880	0.51202	23.1	0.9902883095220999	0.50742	0.98916	0.88583	D	AEFBI	0.910174	0.86774	D	0.599756197714147	0.73160	5.920928	0.645977514883001	0.78313	6.850909	0.999999999999876	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.83	5.83	0.93059	7.967000	0.87519	7.876000	0.72232	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.201	0.81895	744	0.52588	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1516.44	35	chr1	43387571	.	T	C	1516.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.31;DP=332;ExcessHet=0;FS=3.027;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=0.115;SOR=0.841	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1266	6	0	1	0
chr1	43404501	43404501	A	T	exonic	SZT2	.	nonsynonymous SNV	SZT2:NM_001365999:exon4:c.A449T:p.Y150F,SZT2:NM_015284:exon4:c.A449T:p.Y150F	Epileptic encephalopathy, early infantile, 18, Autosomal recessive	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.00216105318515	.	.	8.242e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs780984579	4.105e-06	4.104e-06	2.723e-06	5.501e-06	0.0007	1.48e-06	9.7e-07	0.0002	0.0001	0	0	0	0	0	0.0007	0	1.656e-05	1.159e-05	1.315e-05	1.314e-05	1.285e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.214	0.30943	T	0.406	0.28860	T	0.004	0.12183	B	0.004	0.10090	B	.	.	.	.	0.904285	0.27639	N	-0.435	0.02851	N	2.25	0.17761	T	-2.21	0.49684	N	0.343	0.50598	-1.1053	0.03507	T	0.038	0.16290	T	9	0.20520261	0.36738	T	0.002161	0.04043	T	0.124	0.34239	0.583	0.70990	0.18274738541	0.17906	0.2001998975820625	0.19936	1.04755800621	0.76010	0.521323204041	0.41813	T	0.143438	0.47955	T	-0.145717	0.28983	T	-0.447089	0.28019	T	0.440175589795465	0.30436	T	0.907509	0.68535	D	0.080000766	0.18307	0.14035058	0.33457	0.080000766	0.18307	0.14035058	0.33456	-5.012	0.36970	T	0.0961516864033424	0.06622	0.095	0.19276	B	.;.;.	.;.;.	2.427128	0.31222	18.68	0.97275464218713525	0.33158	0.81882	0.41199	D	AEFBHCI	0.119880	0.23378	N	0.0721670592179741	0.45168	2.777869	0.261011721153027	0.53276	3.497521	0.998796026328999	0.37689	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.8	5.8	0.92081	6.360000	0.73005	11.182000	0.88348	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.7408:0.0:0.0:0.2592	9.686	0.39263	758	0.50837	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	708.46	34	chr1	43404501	.	A	T	708.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.724;DP=215;ExcessHet=0;FS=6.793;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.68;ReadPosRankSum=-1.66;SOR=0.114	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	6	0	1	0
chr1	43432374	43432374	G	A	exonic	SZT2	.	nonsynonymous SNV	SZT2:NM_015284:exon36:c.G5206A:p.E1736K,SZT2:NM_001365999:exon37:c.G5377A:p.E1793K	Epileptic encephalopathy, early infantile, 18, Autosomal recessive	421	1098	3	0	0	3	0.00136426	.	.	.	391229	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.269	0.00295310743834	0.0002	0.000199681	0.0003	0.0001	0.0003	0	0	0.0002	0.0036	0.0007	0.0002393	37	154602	rs143185010	0.0001	0.0001	0.0001	0.0002	0.0046	0.0001	0.0001	0.0032	0.0027	0.0002	0.0002	3.936e-05	0	0	0.0046	0.0001	0.0003	0.0003	9.85e-05	9.843e-05	0.0001	6.715e-05	0.0002	6.003e-05	4.877e-05	6.804e-05	5.088e-05	2.407e-05	0	0.0002	0	0	0	0.0068	0.0001	0	0	0.011	0.55530	D	0.463	0.12957	T	0.232	0.30664	B	0.192	0.36449	B	0.375072	0.13470	N	0.730141	0.999695	0.20667	N	0.69	0.16971	N	.	.	.	-1.4	0.34596	N	0.275	0.31140	-0.9691	0.37386	T	0.088	0.34050	T	9	0.07878429	0.12596	T	0.002953	0.06280	T	.	.	.	.	0.298403945805	0.29456	0.3392097734243437	0.33833	0.306330383536	0.32929	0.410071462393	0.26466	T	0.059905	0.31241	T	-0.300855	0.08579	T	-0.335784	0.40821	T	0.0463018208227961	0.04839	T	0.79972	0.44511	T	0.111914635	0.26444	0.18193497	0.41089	0.111914635	0.26444	0.18193497	0.41088	-4.604	0.32410	T	0.3257442783579565	0.42389	0.071	0.03698	B	.;.	.;.	3.928869	0.57408	23.9	0.94586854955445421	0.25134	0.93584	0.58617	D	AEFDBI	0.291440	0.40256	N	-0.118482295199528	0.36589	2.116908	-0.00634253699976972	0.39427	2.337606	0.993324632538448	0.33171	0.562547	0.31514	0	0.653731	0.59785	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	5.79	5.79	0.91751	4.755000	0.61895	11.778000	0.96035	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.434000	0.27538	0.0:0.0:1.0:0.0	15.542	0.75795	771	0.49057	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003021	0.010101	0.002717	0.002924	0.000000	0.000000	0.003049	0.000000	0.07143	879.44	37	chr1	43432374	.	G	A	879.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.12;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.24;ReadPosRankSum=-0.107;SOR=0.844	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1177	6	0	1	0
chr1	44704096	44704096	T	C	exonic	ARMH1	.	nonsynonymous SNV	ARMH1:NM_001145636:exon6:c.T647C:p.I216T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.0148597894399	0.0007	.	0.0005	0.0005	0	0	0	0.0012	0	0	9.7e-05	15	154602	rs372170670	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	6.165e-05	4.501e-05	6.334e-05	8.405e-05	0.0054	0	0	0.0004	6.12e-05	0.0006	1.262e-05	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	7.923e-05	6.004e-05	4.856e-05	0	0	0.0061	0	0	0	0.0001	0	0	0.015	0.61437	D	0.018	0.66756	D	0.302	0.32608	B	0.085	0.29395	B	0.156354	0.17802	N	0.602490	0.999932	0.19363	N	.	.	.	0.85	0.47130	T	-1.68	0.40082	N	0.175	0.18784	-0.9703	0.37136	T	0.095	0.35924	T	10	0.009207785	0.00208	T	0.01486	0.35248	T	0.100	0.28662	.	.	0.110078149338	0.10416	0.19456755825760388	0.19374	.	.	.	.	.	0.043217	0.26430	T	-0.274224	0.11291	T	-0.395011	0.33966	T	0.049828688566822	0.05471	T	0.732227	0.34774	T	0.13492648	0.31332	0.13655627	0.32664	0.13492648	0.31331	0.13655627	0.32663	-7.129	0.54970	T	.	.	0.120	0.24901	B	.;.;.	.;.;.	2.861504	0.37813	20.6	0.98826753471081563	0.46886	0.97266	0.73678	D	AEFBI	0.631944	0.61274	D	-0.153631679218391	0.35080	2.010456	-0.057324448522878	0.37174	2.173098	0.999902894585159	0.45458	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.24	5.24	0.72863	6.269000	0.72536	4.130000	0.42025	0.660000	0.55035	0.940000	0.32642	0.778000	0.26755	0.004000	0.06068	0.0:0.0:0.0:1.0	14.169	0.65037	0	0.99858	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	634.53	39	chr1	44704096	.	T	C	634.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.559;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=1.54;SOR=0.593	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	6	0	1	0
chr1	44800838	44800838	-	G	splicing	PLK3	NM_004073:exon2:c.211-2->G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.375e-06	2.052e-06	2.735e-06	0	1.802e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.802e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	512.59	27	chr1	44800838	.	A	AG	512.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.721;DP=194;ExcessHet=0;FS=3.005;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-1.445;SOR=0.303	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1007	6	0	1	0
chr1	44841862	44841862	G	C	exonic	PTCH2	.	nonsynonymous SNV	PTCH2:NM_001166292:exon2:c.C250G:p.Q84E,PTCH2:NM_003738:exon2:c.C250G:p.Q84E	Basal cell carcinoma, somatic;Basal cell nevus syndrome, Autosomal dominant;Medulloblastoma, somatic	0	1521	1	0	0	1	0.000328623	.	.	.	1896829	not_specified|Gorlin_syndrome	MedGen:CN169374|MONDO:MONDO:0007187,MedGen:C0004779,OMIM:PS109400,Orphanet:377	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.253	0.0200718075518	.	.	.	.	.	.	.	.	.	.	.	.	.	rs755258246	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.295	0.15823	T	0.543	0.09655	T	0.001	0.07471	B	0.004	0.10090	B	0.011470	0.29519	N	0.169130	0.719074	0.29940	N	0.49	0.13296	N	-2.99	0.92108	D	-0.89	0.24026	N	0.274	0.31702	-0.3514	0.73512	T	0.494	0.80825	T	10	0.23823902	0.40941	T	0.020072	0.42586	T	0.253	0.56294	0.505	0.59924	0.826632325508	0.82499	0.45902413547304727	0.45820	0.185083578846	0.20806	0.391493290663	0.23880	T	0.14519	0.48218	T	0.0285252	0.55527	T	-0.196802	0.54949	T	0.220275532988107	0.21478	T	0.79622	0.43953	T	0.2205228	0.44609	0.18793741	0.42054	0.2205228	0.44609	0.18793741	0.42053	-5.397	0.40891	T	.	.	0.074	0.05317	B	.;.	.;.	3.302271	0.45341	22.1	0.93283712708143607	0.22988	0.88123	0.47914	D	AEFGBI	0.375993	0.46031	N	-0.286276220733483	0.29678	1.64792	-0.0722516227453863	0.36543	2.127947	0.999999625828242	0.74766	0.582742	0.33608	0	0.588066	0.40923	0	0.61531	0.40942	0	0.567892	0.33627	0	.	.	4.63	4.63	0.57175	1.422000	0.34434	7.400000	0.58569	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.8219:0.1781	11.616	0.50346	582	0.69555	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	814.46	34	chr1	44841862	.	G	C	814.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.18;DP=287;ExcessHet=0;FS=0.821;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=-1.529;SOR=0.796	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr1	45509069	45509069	G	A	exonic	MMACHC	.	nonsynonymous SNV	MMACHC:NM_001330540:exon4:c.G532A:p.G178S,MMACHC:NM_015506:exon4:c.G703A:p.G235S	Methylmalonic aciduria and homocystinuria, cblC type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	0.121800147059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.308	0.21880	T	0.739	0.42933	P	0.47	0.46768	P	0.000089	0.51296	D	0.206205	0.986991	0.40519	D	2.855	0.82945	M	-3.66	0.95212	D	-0.77	0.21429	N	0.375	0.52208	0.367	0.88595	D	0.717	0.90283	D	10	0.3572835	0.52447	T	0.122	0.80265	D	0.425	0.73299	0.324	0.30549	0.935716424596	0.93505	0.47131092784190015	0.47050	0.0406659084861	0.04362	0.426593840122	0.28743	T	0.382611	0.74466	T	0.16518	0.70680	D	-0.000507257	0.70303	D	0.922482132911682	0.58265	D	0.815218	0.46991	T	0.19315028	0.41013	0.12929885	0.31092	0.19315028	0.41013	0.12929885	0.31091	-4.3	0.28177	T	0.19503247361642087	0.25717	0.166	0.41016	B	.;.	.;.	3.973080	0.58349	24.0	0.99044445896163591	0.51095	0.89359	0.49776	D	AEFDBHCI	0.451805	0.50562	N	0.153652738246412	0.48984	3.104105	0.178759240937498	0.48685	3.081072	0.999968790626996	0.48965	0.631515	0.41029	0	0.697927	0.68747	0	0.606735	0.37207	0	0.636168	0.56350	0	.	.	4.98	4.06	0.46572	3.461000	0.52800	9.751000	0.81472	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.105000	0.18517	0.1526:0.0:0.8474:0.0	9.236	0.36625	205	0.92010	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	4108.25	34	chr1	45509069	.	G	A	4108.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.87;DP=530;ExcessHet=0.3476;FS=0.825;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.854;SOR=0.639	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	5	0	2	0
chr1	45509129	45509134	CCCGCC	-	exonic	MMACHC	.	nonframeshift deletion	MMACHC:NM_001330540:exon4:c.592_597del:p.A199_P200del,MMACHC:NM_015506:exon4:c.763_768del:p.A256_P257del	Methylmalonic aciduria and homocystinuria, cblC type, Autosomal recessive	1	1508	13	0	0	13	0.00429185	.	.	.	204443	Cobalamin_C_disease|MMACHC-related_disorder|Disorders_of_Intracellular_Cobalamin_Metabolism|not_provided	MONDO:MONDO:0010184,MedGen:C1848561,OMIM:277400,Orphanet:26,Orphanet:79282|.|MedGen:CN043592|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0079	.	0.0005	0.0001	0	0	0	0.0001	0	0.0033	0.0003946	61	154602	rs1182154648	0.0003	0.0003	0.0002	0.0004	0.0031	0.0003	0.0003	0.0028	0.0027	5.987e-05	0.0003	0	0	0	0.0016	9.988e-05	0.0005	0.0031	0.0003	0.0003	0.0002	0.0003	0.0030	0.0002	0.0002	0.0018	0.0014	4.895e-05	0	0.0012	0	0	0	0	0.0001	0.0005	0.0030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1904.45	34	chr1	45509128	.	ACCCGCC	A	1904.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.069;DP=313;ExcessHet=0;FS=6.874;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.14;ReadPosRankSum=1.13;SOR=1.402	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	6	0	1	0
chr1	45654718	45654718	C	T	exonic	GPBP1L1	.	nonsynonymous SNV	GPBP1L1:NM_021639:exon6:c.G302A:p.R101Q	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.0198970327611	7.7e-05	.	8.241e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs375143538	5.472e-06	5.472e-06	5.445e-06	5.5e-06	1.159e-05	2.35e-06	1.7e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.295e-06	0	1.159e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.047	0.40319	D	0.073	0.43159	T	0.948	0.53620	P	0.24	0.38599	B	0.000001	0.84330	N	0.057315	0.818876	0.34746	D	1.555	0.39373	L	0.81	0.48460	T	-2.07	0.47344	N	0.802	0.80572	-0.9090	0.46977	T	0.097	0.36367	T	10	0.55694276	0.64570	D	0.019897	0.42377	T	0.209	0.49871	.	.	0.247322355667	0.24350	0.29186886791327765	0.29099	0.421861651622	0.42694	0.559733510017	0.47231	T	0.080284	0.36327	T	-0.107981	0.35101	T	-0.29603	0.45141	T	0.764898180961609	0.44136	D	0.914409	0.69449	D	0.18706131	0.40143	0.14322308	0.34045	0.18706131	0.40143	0.14322308	0.34044	-4.454	0.30283	T	.	.	0.136	0.29588	B	.;.	.;.	4.288006	0.65375	24.8	0.99890963468671801	0.96513	0.98112	0.79700	D	AEFGBI	0.631781	0.61263	D	0.168458292903732	0.49689	3.166461	0.158262377557187	0.47582	2.986243	0.569994898969934	0.21484	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.95	0.97	0.18811	7.300000	0.78169	4.730000	0.44549	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.6906:0.0:0.3094	10.472	0.43826	205	0.92010	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	2589.03	88	chr1	45654718	.	C	T	2589.03	.	AC=2;AF=0.143;AN=14;DP=262;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=29.42;SOR=0.941	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	6	1	0	0
chr1	46031409	46031409	G	A	exonic	MAST2	.	nonsynonymous SNV	MAST2:NM_001319245:exon24:c.G3011A:p.R1004H,MAST2:NM_001324321:exon24:c.G2549A:p.R850H,MAST2:NM_015112:exon24:c.G3011A:p.R1004H,MAST2:NM_001324320:exon25:c.G3032A:p.R1011H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0151992205262	.	.	2.544e-05	0	0	0	0	4.585e-05	0	0	2.59e-05	4	154602	rs543929859	3.696e-05	3.694e-05	3.405e-05	3.991e-05	0.0002	2.896e-05	2.594e-05	3.345e-05	2.957e-05	5.977e-05	0	0	2.52e-05	0	0.0002	4.319e-05	3.315e-05	0	3.285e-05	3.283e-05	2.569e-05	4.034e-05	5.879e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	2.412e-05	0	0	0	0	0	0	5.879e-05	0	0	0.056	0.38185	T	0.093	0.39799	T	0.003	0.11197	B	0.001	0.04355	B	0.264829	0.15242	N	0.692471	0.999878	0.25352	N	0.77	0.19370	N	-0.13	0.64818	T	-0.72	0.20358	N	0.217	0.24260	-0.9265	0.44645	T	0.158	0.49027	T	10	0.06449178	0.08560	T	0.015199	0.35793	T	0.063	0.18251	0.229	0.15556	0.569173210356	0.56582	0.19241628856684928	0.19159	0.235098826708	0.26036	0.327547669411	0.14564	T	0.01074	0.09664	T	-0.349063	0.04786	T	-0.557034	0.16657	T	0.00995015986192231	0.00132	T	0.741926	0.37414	T	0.02243358	0.00906	0.025329934	0.00574	0.02243358	0.00906	0.025329934	0.00574	-5.277	0.39714	T	.	.	0.066	0.03479	B	.;.	.;.	0.716938	0.10859	7.535	0.97896396632691052	0.36710	0.18051	0.20099	N	AEFDBCI	0.083370	0.16889	N	-1.00055890669155	0.08593	0.4034619	-1.06223194273679	0.08454	0.4157331	0.263659095804781	0.18817	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.85	-1.55	0.08105	-0.398000	0.07320	-1.332000	0.05694	-0.119000	0.14319	0.000000	0.06391	0.000000	0.08366	0.260000	0.23518	0.5882:0.1584:0.2534:0.0	5.829	0.17826	89	0.96298	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	2446.04	35	chr1	46031409	.	G	A	2446.04	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.83;DP=312;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=0.702;SOR=0.703	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1279	5	0	2	0
chr1	46285538	46285538	A	G	exonic	LRRC41	.	nonsynonymous SNV	LRRC41:NM_006369:exon4:c.T1319C:p.L440S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0123077673918	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1412277909	6.842e-07	6.84e-07	1.361e-06	0	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	0.07259	T	0.73	0.07468	T	0.962	0.55554	D	0.528	0.48482	P	0.197068	0.16696	N	0.537266	0.972336	0.25606	N	0	0.06538	N	0.89	0.45636	T	0.49	0.02993	N	0.325	0.59648	-1.0929	0.05066	T	0.082	0.32382	T	10	0.15626138	0.29432	T	0.012308	0.30768	T	0.059	0.16972	0.384	0.40298	0.239312915715	0.23560	0.3347807057781856	0.33391	1.63047291344	0.89215	0.537700176239	0.44120	T	0.00131	0.01528	T	-0.180267	0.23697	T	-0.496718	0.22688	T	0.321783341970189	0.25894	T	0.756924	0.38041	T	0.051166013	0.09357	0.05172133	0.08379	0.051166013	0.09357	0.05172133	0.08378	-2.855	0.08701	T	.	.	0.112	0.36275	B	.;.;.;.	.;.;.;.	2.669429	0.34795	19.73	0.83858660867530666	0.14959	0.77123	0.37886	D	AEFDBCI	0.140376	0.26226	N	-0.0121775801791171	0.41305	2.468189	0.00515322625413577	0.39955	2.376857	0.999993516551014	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	4.86	2.44	0.28875	0.948000	0.28694	6.007000	0.52582	0.756000	0.94297	0.974000	0.34632	1.000000	0.68203	0.997000	0.79791	0.6544:0.2626:0.083:0.0	6.744	0.22638	101	0.95833	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2324.44	33	chr1	46285538	.	A	G	2324.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.728;DP=414;ExcessHet=0;FS=1.025;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=-1.151;SOR=0.615	GT:AD:DP:GQ:PL	0/1:121,105:226:99:2335,0,2923	6	0	1	0
chr1	46286105	46286105	G	C	exonic	LRRC41	.	nonsynonymous SNV	LRRC41:NM_006369:exon4:c.C752G:p.A251G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.529	0.0502187236679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.992	0.80445	D	0.000001	0.62929	D	0.000000	0.994772	0.42411	D	0.975	0.24501	L	-2.29	0.87591	D	-1.3	0.32590	N	0.484	0.69649	0.536	0.91051	D	0.684	0.89073	D	10	0.32958585	0.50209	T	0.050219	0.64147	D	0.529	0.80128	0.336	0.32491	0.450867454232	0.44710	0.34557122016846215	0.34471	1.58467069867	0.88449	0.727339863777	0.71118	T	0.021497	0.22303	T	0.188674	0.72841	D	0.03324	0.72488	D	0.811592184595306	0.47161	D	0.871313	0.60617	D	0.4854459	0.66229	0.5018189	0.71200	0.4854459	0.66230	0.5018189	0.71201	-3.715	0.19540	T	.	.	0.702	0.74875	P	.;.;.;.	.;.;.;.	4.783938	0.77568	26.7	0.99716558432494762	0.81703	0.99303	0.94210	D	AEFDBHCIJ	0.793704	0.72163	D	0.594256688373689	0.72814	5.865534	0.6166461280718	0.76146	6.437944	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.696144	0.63334	0	0.714379	0.83352	0	.	.	5.11	5.11	0.69188	6.894000	0.75474	11.796000	0.96513	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.624	0.91287	101	0.95833	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr1	46286105	.	G	C	33.22	.	AC=2;AF=0.143;AN=14;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	6	1	0	0
chr1	46568486	46568486	C	T	exonic	MKNK1	.	nonsynonymous SNV	MKNK1:NM_001377343:exon7:c.G341A:p.R114H,MKNK1:NM_001135553:exon8:c.G470A:p.R157H,MKNK1:NM_001377373:exon8:c.G470A:p.R157H,MKNK1:NM_001377374:exon8:c.G470A:p.R157H,MKNK1:NM_001377375:exon8:c.G470A:p.R157H,MKNK1:NM_198973:exon8:c.G470A:p.R157H,MKNK1:NM_001377337:exon9:c.G488A:p.R163H,MKNK1:NM_001377338:exon9:c.G488A:p.R163H,MKNK1:NM_001377341:exon9:c.G488A:p.R163H,MKNK1:NM_001377342:exon9:c.G488A:p.R163H,MKNK1:NM_003684:exon9:c.G593A:p.R198H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.148458487313	.	.	1.651e-05	0	8.663e-05	0	0	0	0	6.066e-05	1.29e-05	2	154602	rs771500308	5.473e-06	5.472e-06	2.723e-06	8.251e-06	4.473e-05	2.35e-06	1.7e-06	7.41e-06	2.77e-06	2.987e-05	4.473e-05	0	0	0	0	3.597e-06	0	1.16e-05	6.573e-06	6.568e-06	0	1.346e-05	6.548e-05	0	0	.	.	0	0	6.548e-05	0	0	0	0	0	0	0	.	.	.	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.545	0.74286	M	.	.	.	.	.	.	0.975	0.98563	0.299	0.87544	D	0.558	0.83873	D	10	0.97530854	0.97275	D	0.148458	0.83038	D	0.538	0.80664	0.959	0.99568	0.880332836429	0.87915	0.5300985237643849	0.52933	1.0531444316	0.76231	0.905078530312	0.96984	D	0.59722	0.87038	D	0.116785	0.66048	D	0.0306069	0.72317	D	0.99152946472168	0.81831	D	0.994161	0.99003	D	0.9130752	0.92583	0.87043995	0.92896	0.9130752	0.92584	0.87043995	0.92896	-10.881	0.81658	D	.	.	0.977	0.93663	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.767762	0.93463	33	0.99926602018630173	0.99103	0.99703	0.98807	D	AEFDBIJ	0.931076	0.91935	D	1.08640517986412	0.97873	16.93911	1.02585705407354	0.99067	20.51844	0.999999999999997	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	7.514000	0.80644	7.658000	0.64072	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.868	0.96822	106	0.95650	Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1658.45	34	chr1	46568486	.	C	T	1658.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.18;DP=291;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=0.017;SOR=0.676	GT:AD:DP:GQ:PL	0/1:45,69:114:99:1669,0,874	6	0	1	0
chr1	46613215	46613215	G	C	exonic	MOB3C	.	nonsynonymous SNV	MOB3C:NM_145279:exon2:c.C107G:p.A36G,MOB3C:NM_201403:exon2:c.C107G:p.A36G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.0139583808919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.01	0.76473	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	.	.	.	-3.89	0.72820	D	0.774	0.77132	0.264	0.86973	D	0.557	0.83845	D	9	0.6686675	0.70580	D	0.013958	0.33748	T	0.582	0.83193	0.642	0.77903	0.707347941332	0.70479	0.38905998175117595	0.38820	0.572858510513	0.53358	0.764638364315	0.76621	T	0.131582	0.46340	T	0.285581	0.81788	D	0.172441	0.81555	D	0.994002064544445	0.85055	D	0.990601	0.97065	D	0.75960207	0.81429	0.73670983	0.84438	0.75960207	0.81431	0.73670983	0.84440	-7.806	0.59740	D	.	.	0.649	0.77163	P	.;.;.	.;.;.	4.951349	0.81797	27.6	0.99793096647677015	0.87839	0.96467	0.69283	D	AEFDBHCI	0.898988	0.84287	D	0.950088505148483	0.93988	12.421	0.892121511922027	0.95220	13.41926	1.0	0.98316	0.660085	0.49399	0	0.662677	0.63036	0	0.735289	0.94003	0	0.683762	0.67416	0	.	.	5.31	5.31	0.75063	9.951000	0.98966	11.917000	0.99728	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	17.964	0.89013	173	0.93306	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	297.96	71	chr1	46613215	.	G	C	297.96	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-2.807;DP=807;ExcessHet=3.1439;FS=124.913;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=1.38;SOR=9.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,32:159:18:0|1:46613214_G_C:18,0,3057:46613214	0	0	4	3
chr1	46673263	46673263	C	T	exonic	TEX38	.	nonsynonymous SNV	TEX38:NM_001145474:exon2:c.C428T:p.S143F,TEX38:NM_001300863:exon2:c.C266T:p.S89F,TEX38:NM_001300864:exon2:c.C200T:p.S67F	.	428	1023	66	5	0	76	0.0358153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0050	0.00798722	0.0150	0.0014	0.0130	0	0.0185	0.0115	0.0122	0.0235	0.0030271	468	154602	rs139847766	0.0068	0.0065	0.0061	0.0074	0.0228	0.0066	0.0066	0.0219	0.0215	0.0009	0.0025	0.0170	8.394e-05	0.0214	0.0183	0.0051	0.0075	0.0228	0.0069	0.0069	0.0058	0.0081	0.0251	0.0065	0.0064	0.0214	0.0201	0.0010	0	0.0025	0.0159	0	0.0263	0.0204	0.0073	0.0052	0.0251	0.002	0.91255	D	0.004	0.74150	D	0.019	0.17989	B	0.022	0.19653	B	.	.	.	.	0.999999	0.08975	N	1.7	0.43825	L	-1.05	0.76690	T	-3.38	0.78135	D	0.059	0.08646	.	.	.	.	.	.	.	0.003181696	0.00053	T	.	.	.	.	.	.	.	.	.	0.3266098415028297	0.32573	.	.	0.371366500854	0.21029	T	0.049521	0.32485	T	-0.408703	0.02028	T	-0.341597	0.40164	T	.	.	.	0.553645	0.19140	T	0.24107373	0.47018	0.2824542	0.54233	0.24107373	0.47018	0.2824542	0.54232	-4.009	0.23938	T	.	.	0.137	0.30211	B	.;.;.	.;.;.	2.704225	0.35333	19.87	0.99672898469081317	0.78717	0.08995	0.14837	N	AEFDBCI	0.084133	0.17050	N	.	.	.	.	.	.	0.984711121805387	0.30763	0.498214	0.20090	0	0.379588	0.06130	0	0.514364	0.09456	0	0.711	0.71501	0	.	.	4.87	2.91	0.32903	0.783000	0.26463	1.811000	0.28962	0.524000	0.24156	0.003000	0.16062	0.092000	0.22550	0.618000	0.31844	0.1893:0.7116:0.0:0.0992	5.869	0.18039	186	0.92733	.;.;.	.	.	.	.	rs139847766	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017717	0.005263	0.021552	0.028689	0.000000	0.000000	0.010101	0.028302	0.07143	2664.44	34	chr1	46673263	.	C	T	2664.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.273;DP=427;ExcessHet=0;FS=3.939;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.408;SOR=0.982	GT:AD:DP:GQ:PL	0/1:103,107:210:99:2675,0,2702	6	0	1	0
chr1	50419106	50419106	G	0	exonic	DMRTA2	.	.	.	.	453	9	255	719	86	1779	0.98948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2462.79	11	chr1	50419106	.	G	*	2462.79	.	AC=2;AF=0.143;AN=14;DP=111;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=24.63;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:23:69:.:.:682,682,682:.	5	0	2	0
chr1	51402479	51402479	G	C	exonic	EPS15	.	nonsynonymous SNV	EPS15:NM_001159969:exon6:c.C896G:p.A299G,EPS15:NM_001981:exon18:c.C1838G:p.A613G	.	475	1043	3	1	0	5	0.0023912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00435812345159	7.7e-05	0.000399361	0.0005	9.754e-05	0	0	0	7.535e-05	0	0.0035	0.0004398	68	154602	rs143123544	0.0003	0.0003	0.0002	0.0004	0.0033	0.0003	0.0003	0.0030	0.0029	0	2.292e-05	0	0	0	0.0011	0.0001	0.0002	0.0033	0.0001	0.0001	0.0001	0.0002	0.0027	9.742e-05	8.257e-05	0.0016	0.0013	0	0	6.542e-05	0	0	0	0	0.0001	0	0.0027	0.502	0.10482	T	0.285	0.21343	T	0.9	0.49598	P	0.275	0.40079	B	.	.	.	.	0.779498	0.34249	D	0.69	0.16971	N	2.23	0.18083	T	-1.26	0.31778	N	0.199	0.21969	-1.0779	0.07761	T	0.024	0.10374	T	9	0.005326152	0.00117	T	0.004358	0.10624	T	0.064	0.18567	.	.	0.572208630285	0.56887	0.10539253603872833	0.10469	0.12926129739	0.14574	0.317541390657	0.13048	T	0.022236	0.21818	T	-0.618603	0.00112	T	-0.663463	0.08035	T	0.0370637527841134	0.03167	T	0.839416	0.51368	T	0.04121575	0.06030	0.08135075	0.18479	0.04121575	0.06030	0.08135075	0.18478	-5.015	0.37002	T	.	.	0.104	0.18663	B	.;.	.;.	3.446934	0.47979	22.5	0.984444930500466	0.41553	0.88262	0.48111	D	AEFBI	0.307541	0.41439	N	0.0440756141906166	0.43871	2.671619	0.199251227161225	0.49805	3.179518	9.3868446090772E-4	0.08027	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.714379	0.83352	0	.	.	5.96	4.0	0.45673	1.865000	0.39117	5.654000	0.49193	0.618000	0.50648	0.997000	0.40164	1.000000	0.68203	0.985000	0.61073	0.0672:0.1218:0.685:0.126	7.498	0.26670	386	0.83455	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	338.27	29	chr1	51402479	.	G	C	338.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.145;DP=167;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-1.215;SOR=0.665	GT:AD:DP:GQ:PL	0/0:23,0:23:69:0,69,607	5	0	1	1
chr1	52237776	52237776	A	G	exonic	ZFYVE9	.	nonsynonymous SNV	ZFYVE9:NM_004799:exon4:c.A359G:p.Y120C,ZFYVE9:NM_007324:exon4:c.A359G:p.Y120C	.	435	1062	24	1	0	26	0.012093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0034	0.00419329	0.0054	0.0011	0.0026	0	0.0107	0.0061	0.0022	0.0084	0.0050776	785	154602	rs61753387	0.0052	0.0052	0.0050	0.0053	0.0113	0.0051	0.0050	0.0091	0.0083	0.0007	0.0035	0.0026	5.038e-05	0.0090	0.0113	0.0052	0.0047	0.0087	0.0047	0.0047	0.0041	0.0053	0.0078	0.0044	0.0043	0.0067	0.0063	0.0008	0	0.0078	0.0023	0.0002	0.0107	0.0136	0.0058	0.0043	0.0060	0.116	0.28395	T	0.178	0.29639	T	0.0	0.07471	B	0.0	0.04355	B	0.041672	0.23924	N	0.388583	0.914131	0.27442	N	0.345	0.11182	N	1.19	0.37910	T	-0.83	0.25551	N	0.081	0.13484	-1.0726	0.08851	T	0.044	0.18948	T	10	0.002798617	0.00044	T	.	.	.	0.034	0.08419	.	.	0.043077524339	0.03247	0.1217509137701063	0.12102	0.130914650976	0.14767	0.244946539402	0.03254	T	0.004385	0.03788	T	-0.650764	0.00072	T	-0.702708	0.05679	T	0.00546131305428539	0.00059	T	0.758824	0.38273	T	0.07316915	0.16330	0.036688607	0.03167	0.07316915	0.16330	0.036688607	0.03166	-2.519	0.05919	T	.	.	0.059	0.01534	B	.;.;.	.;.;.	1.296858	0.16982	12.89	0.96653184260730485	0.30596	0.17813	0.19998	N	ALL	0.065334	0.12738	N	-0.364802047348325	0.26731	1.461174	-0.148266243651583	0.33474	1.915228	0.999999999999999	0.74766	0.75658	0.98901	0	0.624146	0.53433	0	0.709663	0.75317	0	0.656636	0.63459	0	.	.	5.77	4.79	0.60909	0.764000	0.26197	2.426000	0.32709	-0.041000	0.17446	0.992000	0.37556	1.000000	0.68203	0.911000	0.44643	0.1689:0.0:0.8311:0.0	6.756	0.22703	335	0.86220	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.000000	0.013587	0.008772	0.000000	0.008621	0.030488	0.011364	0.1429	2843.27	90	chr1	52237776	.	A	G	2843.27	.	AC=2;AF=0.143;AN=14;DP=276;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=31.59;SOR=0.99	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1348	6	1	0	0
chr1	52359041	52359041	C	A	exonic	CC2D1B	.	stopgain	CC2D1B:NM_001330585:exon11:c.G1243T:p.E415X,CC2D1B:NM_032449:exon11:c.G1243T:p.E415X	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5e-06	6.156e-06	9.581e-06	1.381e-06	7.195e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.195e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011228	0.29610	N	0.342571	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.084	0.08227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518762	0.94859	D	0.507389	0.94782	D	0.99469405412674	0.86141	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.586824	0.97753	38	0.99408674424010046	0.63169	0.96247	0.68213	D	AEFDBCI	0.056507	0.10453	N	0.949392333479898	0.93961	12.400	0.760621015944731	0.86949	9.056041	0.810274790696877	0.24342	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.56	4.56	0.55644	4.284000	0.58776	5.959000	0.51789	0.587000	0.30956	0.999000	0.42656	1.000000	0.68203	0.908000	0.44358	0.0:1.0:0.0:0.0	16.256	0.82344	355	0.85216	Domain of unknown function DM14;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	550.53	19	chr1	52359041	.	C	A	550.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.805;DP=202;ExcessHet=0;FS=1.109;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-0.261;SOR=0.527	GT:AD:DP:GQ:PL	0/1:26,23:49:99:561,0,728	6	0	1	0
chr1	52361541	52361546	TCCTCC	-	exonic	CC2D1B	.	nonframeshift deletion	CC2D1B:NM_001330585:exon4:c.285_290del:p.E96_E97del,CC2D1B:NM_032449:exon4:c.285_290del:p.E96_E97del	.	395	1107	16	4	0	24	0.0107239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0777	0.00698882	0.0068	0.0008	0.0058	0	0.0011	0.0074	0.0094	0.0146	0.0047641	124	26028	rs530661837	0.0077	0.0077	0.0075	0.0079	0.0137	0.0076	0.0075	0.0124	0.0121	0.0010	0.0064	0.0041	0	0.0011	0.0137	0.0082	0.0078	0.0130	0.0058	0.0058	0.0064	0.0051	0.0128	0.0055	0.0053	0.0102	0.0093	0.0015	0	0.0071	0.0064	0	0.0010	0	0.0089	0.0057	0.0128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1504.42	34	chr1	52361540	.	TTCCTCC	T	1504.42	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.792;DP=265;ExcessHet=0;FS=1.891;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.54;ReadPosRankSum=0.324;SOR=0.467	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr1	52857042	52857042	A	G	exonic	ZYG11A	.	nonsynonymous SNV	ZYG11A:NM_001004339:exon3:c.A301G:p.M101V	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.00274250974343	.	.	0.0003	0	0.0026	0	0	0	0	0.0007	3.88e-05	6	154602	rs760205371	3.368e-05	3.283e-05	1.271e-05	5.527e-05	0.0006	2.595e-05	2.326e-05	0.0004	0.0004	0	0	0	0	0	0	9.291e-07	1.728e-05	0.0006	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	7.282e-05	3.026e-05	0	0	0	0	0	0	0	0	0	0.0004	0.221	0.18889	T	0.31	0.19721	T	0.004	0.12183	B	0.012	0.16012	B	0.005643	0.32621	N	0.345810	1	0.81001	D	1.935	0.51832	L	5.59	0.00834	T	-0.56	0.17003	N	0.143	0.14338	-1.0216	0.23195	T	0.003	0.01026	T	10	0.0105982125	0.00235	T	0.002743	0.05665	T	0.130	0.35528	0.431	0.48007	0.0401082797425	0.02173	0.31582300397875485	0.31495	.	.	0.356344997883	0.18853	T	0.001462	0.00916	T	-0.430276	0.01477	T	-0.489396	0.23455	T	0.0531764782079432	0.06049	T	0.810219	0.46129	T	0.10190322	0.24075	0.10066526	0.24077	0.10190322	0.24075	0.10066526	0.24077	-2.426	0.05295	T	.	.	0.129	0.27702	B	.	.	2.439176	0.31391	18.73	0.97484661893540103	0.34209	0.88382	0.48284	D	AEFDGBI	0.232357	0.35544	N	-0.310175849460254	0.28760	1.589074	-0.13855671851698	0.33852	1.94082	0.611822986660184	0.21811	0.638212	0.43195	0	0.546412	0.12157	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	5.32	4.16	0.48138	2.293000	0.43219	6.002000	0.52504	0.756000	0.94297	0.989000	0.36753	1.000000	0.68203	1.000000	0.97212	0.7921:0.0:0.0725:0.1354	6.678	0.22292	153	0.93993	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	708.53	33	chr1	52857042	.	A	G	708.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.459;DP=228;ExcessHet=0;FS=1.181;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=0.828;SOR=0.445	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1196	6	0	1	0
chr1	53089882	53089882	G	C	exonic	SLC1A7	.	nonsynonymous SNV	SLC1A7:NM_001287597:exon8:c.C1063G:p.L355V,SLC1A7:NM_001287595:exon9:c.C1456G:p.L486V,SLC1A7:NM_006671:exon9:c.C1279G:p.L427V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.479	0.0921706380511	.	.	8.276e-06	0	0	0	0	0	0	6.069e-05	3.84e-05	1	26028	rs778135532	6.842e-06	6.84e-06	8.169e-06	5.501e-06	1.159e-05	3.46e-06	2.52e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.094e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.016	0.60972	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.415	0.69758	M	0.19	0.60236	T	-2.82	0.59545	D	0.565	0.63374	-0.2542	0.76246	T	0.394	0.74706	T	10	0.56004685	0.64736	D	0.092171	0.75842	D	0.479	0.77012	0.699	0.83592	0.617599811619	0.61451	0.9337017231943302	0.93349	0.430072730439	0.43270	0.836962997913	0.87631	D	0.094037	0.56081	T	0.108267	0.65172	D	0.0145962	0.71280	D	0.971038818359375	0.69167	D	0.962304	0.85970	D	0.76028454	0.81470	0.64594424	0.79299	0.76028454	0.81471	0.64594424	0.79300	-10.385	0.76184	D	.	.	0.697	0.72848	P	.;.;.	.;.;.	4.973658	0.82330	27.8	0.99851272648956002	0.93013	0.95714	0.65843	D	ALL	0.954223	0.97115	D	0.773848338759953	0.84445	8.290251	0.755359931779595	0.86555	8.927467	1.0	0.98316	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.62	5.62	0.85714	7.926000	0.87003	11.707000	0.94592	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.443000	0.27738	0.0:0.0:1.0:0.0	19.651	0.95811	506	0.75555	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	982.49	33	chr1	53089882	.	G	C	982.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.121;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=-0.329;SOR=0.724	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1189	6	0	1	0
chr1	53289629	53289629	C	T	exonic	LRP8	.	nonsynonymous SNV	LRP8:NM_001018054:exon3:c.G305A:p.R102Q,LRP8:NM_004631:exon3:c.G305A:p.R102Q,LRP8:NM_017522:exon3:c.G305A:p.R102Q,LRP8:NM_033300:exon3:c.G305A:p.R102Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.698	0.123783924933	.	.	2.975e-05	0	0	0.0001	0	1.76e-05	0	7.437e-05	1.94e-05	3	154602	rs373226230	5.476e-06	5.472e-06	5.447e-06	5.505e-06	5.977e-05	2.36e-06	1.7e-06	9.9e-06	3.7e-06	5.977e-05	2.242e-05	0	2.522e-05	0	0	1.799e-06	0	2.326e-05	2.627e-05	2.625e-05	1.285e-05	4.029e-05	0.0002	8.14e-06	5.14e-06	1.914e-05	1.03e-05	7.217e-05	0	0	0	0.0002	0	0	0	0	0	0.014	0.57480	D	0.015	0.61642	D	0.987	0.67487	D	0.919	0.65474	D	.	.	.	.	0.999965	0.81001	D	1.605	0.40863	L	-3.65	0.95179	D	-2.67	0.57110	D	0.29	0.35832	0.278	0.87200	D	0.835	0.94489	D	9	0.27644324	0.45206	T	0.123784	0.80501	D	0.698	0.89099	0.394	0.41935	0.987854130062	0.98772	0.9151332734550394	0.91488	1.46387727901	0.86409	0.37051576376	0.20906	T	0.454	0.79366	T	0.162287	0.70413	D	0.177484	0.81850	D	0.77294510602951	0.44617	D	0.889011	0.61998	D	0.3789174	0.59239	0.3516301	0.60753	0.3789174	0.59239	0.3516301	0.60753	-7.776	0.63712	D	.	.	0.093	0.28261	B	.;.;.;.	.;.;.;.	4.418794	0.68417	25.2	0.9991281696251364	0.98167	0.94325	0.60806	D	AEFBI	0.561196	0.56929	D	-0.029233496727432	0.40535	2.408883	-0.0487003349020735	0.37548	2.199874	0.999995420754041	0.74766	0.631515	0.41029	0	0.577304	0.33150	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.18	3.32	0.37134	3.982000	0.56618	3.300000	0.37375	-0.202000	0.08738	0.183000	0.24101	0.998000	0.33993	0.086000	0.17578	0.0:0.8443:0.0:0.1557	10.862	0.46038	401	0.82673	EGF-like domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	928.27	39	chr1	53289629	.	C	T	928.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.371;DP=251;ExcessHet=0;FS=1.912;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=0.275;SOR=0.994	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1263	5	0	1	1
chr1	53327839	53327839	T	0	exonic	LRP8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2609.59	12	chr1	53327839	.	T	*	2609.59	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1;DP=148;ExcessHet=0.4139;FS=3.485;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=21.22;ReadPosRankSum=-0.091;SOR=1.168	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,2:25:9:1|0:53327838_CTG_C:933,699,951:53327838	4	0	2	1
chr1	53940072	53940072	A	G	exonic	HSPB11	.	nonsynonymous SNV	HSPB11:NM_001316935:exon2:c.T11C:p.I4T,HSPB11:NM_001382249:exon2:c.T11C:p.I4T,HSPB11:NM_001382250:exon2:c.T11C:p.I4T,HSPB11:NM_001382253:exon2:c.T11C:p.I4T,HSPB11:NM_001382261:exon2:c.T11C:p.I4T,HSPB11:NM_016126:exon2:c.T11C:p.I4T	.	432	1085	5	0	0	5	0.00229885	.	.	.	3263828	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.013	0.001580277501	0.0012	0.000399361	0.0008	0.0006	0	0	0.0003	0.0011	0	0.0004	0.0007115	110	154602	rs200095391	0.0012	0.0013	0.0013	0.0012	0.0015	0.0012	0.0012	0.0014	0.0014	0.0001	0.0005	0	0	0.0002	0.0002	0.0015	0.0011	0.0005	0.0009	0.0009	0.0009	0.0009	0.0018	0.0008	0.0007	0.0015	0.0014	0.0002	0	0.0003	0	0	9.422e-05	0	0.0018	0	0.0002	0.154	0.24661	T	0.412	0.28958	T	0.0	0.02946	B	0.0	0.01387	B	0.408628	0.04578	N	1.338320	0.999857	0.20048	N	-0.895	0.01383	N	.	.	.	-0.42	0.16187	N	0.172	0.18376	-1.0253	0.21985	T	0.045	0.19194	T	9	0.008911669	0.00202	T	0.00158	0.02523	T	0.013	0.01715	.	.	0.143124449307	0.13826	0.13337022409852262	0.13261	0.0715197750357	0.08007	0.386494904757	0.23174	T	0.008626	0.07910	T	-0.63983	0.00083	T	-0.695212	0.06091	T	0.00177072030582214	0.00018	T	0.524448	0.17180	T	0.07821712	0.17800	0.04340756	0.05394	0.07821712	0.17800	0.04340756	0.05393	-4.862	0.35305	T	.	.	0.055	0.00368	B	.;.;.;.	.;.;.;.	0.677079	0.10455	7.174	0.79439799897338259	0.12742	0.06694	0.12714	N	AEFDGBI	0.049539	0.08569	N	-1.04993176685931	0.07589	0.3530396	-0.951339451729112	0.10891	0.5515178	0.999656051964068	0.41424	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.633917	0.49826	0	.	.	5.25	1.72	0.23498	0.232000	0.17670	0.988000	0.23172	-0.161000	0.11593	0.001000	0.13787	0.117000	0.22861	0.939000	0.47918	0.7282:0.0:0.2718:0.0	6.754	0.22689	807	0.43470	.;.;.;APC10/DOC domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	717.49	32	chr1	53940072	.	A	G	717.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.93;DP=225;ExcessHet=0;FS=2.244;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.139;SOR=1.035	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1165	6	0	1	0
chr1	54609332	54609332	C	T	exonic	FAM151A	.	nonsynonymous SNV	FAM151A:NM_176782:exon8:c.G1694A:p.R565Q	.	425	1096	1	0	0	1	0.000455996	.	.	.	2378473	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.295	0.0163408133462	0.0002	0.000199681	0.0002	9.63e-05	0	0	0	0.0003	0.0011	0	0.0001746	27	154602	rs200747808	0.0004	0.0004	0.0004	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	5.975e-05	2.237e-05	7.657e-05	2.519e-05	0.0007	0.0003	0.0004	0.0003	4.638e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	4.814e-05	0	0.0003	0	0	0.0004	0	0.0003	0	0	0.599	0.05652	T	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000015	0.62929	D	0.000000	1	0.81001	D	2.505	0.72935	M	2.35	0.16217	T	-1.21	0.30762	N	0.639	0.65159	-0.9748	0.36170	T	0.119	0.41604	T	10	0.2404049	0.41199	T	0.016341	0.37549	T	0.295	0.61502	.	.	0.391930172978	0.38808	0.4869946763659551	0.48619	0.412894105162	0.42014	0.536222100258	0.43912	T	9.27E-4	0.00478	T	-0.106141	0.35407	T	-0.0408087	0.67647	D	0.115826743105536	0.14016	T	0.758824	0.38273	T	0.099069744	0.23375	0.10928704	0.26337	0.099069744	0.23375	0.10928704	0.26336	-4.699	0.33392	T	.	.	0.124	0.31658	B	.;.	.;.	3.830430	0.55368	23.6	0.99933321402007769	0.99488	0.93274	0.57780	D	AEFDBI	0.553381	0.56465	D	0.680310990764199	0.78343	6.852258	0.605124722240671	0.75312	6.288197	0.999999670821347	0.74766	0.538715	0.22204	0	0.588066	0.40923	0	0.78367	0.99111	0	0.567892	0.33627	0	.	.	4.28	4.28	0.50183	3.268000	0.51287	4.416000	0.43298	0.599000	0.40250	0.962000	0.33725	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	15.034	0.71390	778	0.48011	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002073	0.005051	0.000000	0.003497	0.000000	0.000000	0.006098	0.000000	0.07143	1337.44	34	chr1	54609332	.	C	T	1337.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.88;DP=334;ExcessHet=0;FS=1.471;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=0.535;SOR=0.68	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	6	0	1	0
chr1	54700343	54700343	G	A	exonic	MROH7	.	nonsynonymous SNV	MROH7:NM_001291332:exon16:c.G1541A:p.R514H,MROH7:NM_001039464:exon18:c.G2987A:p.R996H	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0044816654894	0.0015	0.00139776	0.0007	0.0059	0.0008	0	0	0.0002	0.0023	0	0.0006015	93	154602	rs145665162	0.0002	0.0002	0.0002	0.0002	0.0041	0.0002	0.0002	0.0035	0.0033	0.0041	0.0004	0	0	0	0.0017	6.925e-05	0.0005	2.319e-05	0.0015	0.0015	0.0016	0.0014	0.0052	0.0014	0.0013	0.0046	0.0044	0.0052	0	0.0005	0	0	0	0	0.0001	0.0009	0.0002	0.035	0.45039	D	0.006	0.70582	D	0.999	0.77913	D	0.917	0.65306	D	0.303897	0.14550	N	0.610623	0.623011	0.32722	D	2.16	0.60381	M	4.77	0.02032	T	-2.5	0.54382	D	0.512	0.54322	-0.9872	0.33298	T	0.059	0.24797	T	10	0.01233986	0.00266	T	0.004482	0.11000	T	0.193	0.47281	.	.	0.221734844693	0.21761	0.15244645319157907	0.15166	0.3120935974	0.33510	0.533724427223	0.43560	T	0.009426	0.08585	T	-0.465327	0.00910	T	-0.439544	0.28859	T	0.026480839954679	0.01472	T	0.840516	0.51562	T	0.09089579	0.21283	0.08511104	0.19628	0.09089579	0.21282	0.08511104	0.19627	-6.109	0.47182	T	.	.	0.211	0.43909	B	.;.	.;.	4.253005	0.64575	24.7	0.99948469476679902	0.99923	0.47158	0.27920	N	AEFBI	0.165880	0.29241	N	0.525232541553584	0.68586	5.237694	0.460447340503259	0.65389	4.817791	9.78423266194482E-4	0.08079	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	5.5	4.52	0.54797	1.607000	0.36447	3.890000	0.40289	0.676000	0.76740	0.957000	0.33433	0.769000	0.26685	0.989000	0.64315	0.1058:0.0:0.8942:0.0	8.359	0.31508	802	0.44336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.005051	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.1429	1773.29	34	chr1	54700343	.	G	A	1773.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.308;DP=306;ExcessHet=0.3476;FS=2.006;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-1.25;SOR=0.512	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,106,1356	5	0	2	0
chr1	56912580	56912580	C	T	exonic	C8A	.	nonsynonymous SNV	C8A:NM_000562:exon10:c.C1558T:p.R520C	C8 deficiency, type I, Autosomal recessive	2	1517	3	0	0	3	0.000987817	.	.	.	1040231	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.292	0.0918032573933	0.0002	.	0.0003	0.0002	0	0.0001	0	0.0003	0	0.0007	0.0003169	49	154602	rs202001060	0.0004	0.0004	0.0004	0.0004	0.0014	0.0003	0.0003	0.0007	0.0007	2.987e-05	0.0002	0.0001	0.0001	0	0.0014	0.0004	0.0005	0.0009	0.0002	0.0002	0.0003	0.0002	0.0006	0.0002	0.0001	0.0003	0.0002	0.0001	0	0	0.0003	0	0	0	0.0004	0.0005	0.0006	0.032	0.44694	D	0.028	0.54934	D	0.959	0.55135	D	0.443	0.45803	B	0.028892	0.25534	N	0.468807	0.999012	0.21709	N	1.65	0.42232	L	-2.28	0.87512	D	-2.17	0.49018	N	0.304	0.34336	-0.4635	0.69951	T	0.430	0.77225	T	10	0.14361897	0.27265	T	0.091803	0.75773	D	0.292	0.61157	.	.	0.852914925006	0.85150	0.637094173467056	0.63643	0.141135838757	0.15921	0.2456253618	0.03321	T	0.230048	0.59602	T	-0.323334	0.06629	T	-0.319007	0.42685	T	0.0860010012984276	0.10736	T	0.858314	0.54891	D	0.13217187	0.30785	0.06880824	0.14417	0.13217187	0.30785	0.06880824	0.14417	-10.871	0.78945	D	.	.	0.281	0.51385	B	.	.	2.378760	0.30534	18.47	0.99751133009494886	0.84305	0.10569	0.16039	N	AEFBI	0.748261	0.69007	D	-0.376941126084998	0.26292	1.433857	-0.484835093812651	0.22571	1.226573	0.991454394231716	0.32494	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.51	1.19	0.20120	1.332000	0.33410	0.894000	0.22496	0.599000	0.40250	0.011000	0.18532	0.016000	0.20520	0.605000	0.31514	0.4286:0.4186:0.1528:0.0	8.641	0.33138	880	0.29376	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1125.45	33	chr1	56912580	.	C	T	1125.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.28;DP=300;ExcessHet=0;FS=4.685;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=-2.526;SOR=1.149	GT:AD:DP:GQ:PL	0/1:70,48:118:99:1136,0,1558	6	0	1	0
chr1	59904999	59904999	C	T	exonic	CYP2J2	.	nonsynonymous SNV	CYP2J2:NM_000775:exon7:c.G1063A:p.A355T	.	420	1045	55	2	0	59	0.0274546	.	.	.	2808929	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.102	0.015105775827	0.0011	0.000998403	0.0018	0.0006	0.0007	0	0.0002	0.0011	0.0055	0.0078	0.0015524	240	154602	rs144856672	0.0012	0.0012	0.0009	0.0014	0.0184	0.0011	0.0011	0.0155	0.0145	0.0007	0.0011	3.827e-05	7.56e-05	0	0.0184	0.0006	0.0017	0.0085	0.0010	0.0010	0.0009	0.0011	0.0085	0.0009	0.0008	0.0065	0.0057	0.0006	0	0.0012	0	0	0	0.0102	0.0008	0.0043	0.0085	0.024	0.47745	D	0.006	0.70582	D	0.002	0.09854	B	0.015	0.17295	B	0.395206	0.13200	N	0.748294	0.999761	0.20447	N	1.79	0.46772	L	-0.34	0.68474	T	0.11	0.05706	N	0.035	0.01004	-0.9203	0.45513	T	0.166	0.50356	T	10	0.0077751577	0.00177	T	0.015106	0.35650	T	0.102	0.29158	.	.	0.519783508757	0.51621	0.3072233096902115	0.30635	0.121399189347	0.13675	0.226801514626	0.01740	T	0.113322	0.43027	T	-0.579393	0.00194	T	-0.599907	0.12819	T	0.023003499802571	0.01024	T	0.765923	0.39354	T	0.063747086	0.13454	0.08463631	0.19484	0.063747086	0.13453	0.08463631	0.19483	-4.378	0.29257	T	.	.	0.078	0.06990	B	.	.	0.592324	0.09609	6.382	0.99512910124413778	0.68739	0.25292	0.22655	N	AEFI	0.434115	0.49529	N	-0.680728933999535	0.16572	0.8454822	-0.632723241483656	0.18655	0.9974999	0.00716124955779844	0.11400	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.95	2.94	0.33188	0.084000	0.14738	-9.174000	0.00857	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.336000	0.25340	0.1638:0.6205:0.1376:0.0781	5.067	0.13926	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.000000	0.009511	0.017544	0.000000	0.025862	0.003049	0.011364	0.07143	1146.45	35	chr1	59904999	.	C	T	1146.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.297;DP=290;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=1.03;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1347	6	0	1	0
chr1	64267089	64267089	G	A	exonic	UBE2U	.	nonsynonymous SNV	UBE2U:NM_001366234:exon8:c.G697A:p.E233K,UBE2U:NM_001366232:exon10:c.G835A:p.E279K,UBE2U:NM_001366233:exon10:c.G832A:p.E278K	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	.	.	.	6.016e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs758699141	4.935e-05	4.72e-05	4.516e-05	5.366e-05	0.0003	3.966e-05	3.634e-05	0.0002	0.0001	0	0	0.0011	0	0	0	1.483e-05	0.0001	0.0003	5.26e-05	5.254e-05	1.285e-05	9.422e-05	0.0002	2.558e-05	1.831e-05	.	.	0	0	0	0.0012	0.0002	0	0.0032	1.47e-05	0	0.0002	.	.	.	0.344	0.18903	T	.	.	.	.	.	.	0.696775	0.06179	U	1.243120	1	0.08975	N	0.805	0.20218	L	.	.	.	.	.	.	0.128	0.12198	-0.8548	0.51634	T	0.172	0.51405	T	7	0.053989112	0.05677	T	.	.	.	.	.	.	.	0.486209434461	0.48252	.	.	.	.	.	.	.	0.023067	0.17673	T	-0.418801	0.01741	T	-0.570056	0.15444	T	0.0341078842913104	0.02657	T	0.579642	0.20943	T	0.040731356	0.05870	0.04677277	0.06594	0.040731356	0.05869	0.04677277	0.06594	-5.97	0.46028	T	.	.	0.074	0.11317	B	.;.	.;.	0.958007	0.13342	9.848	0.11503673480002354	0.00175	0.11122	0.16422	N	AEFBHCI	0.101821	0.20440	N	-0.379073118717719	0.26215	1.42908	-0.505210659665269	0.22010	1.193483	1.93766004231453E-4	0.05898	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.52	3.58	0.40133	1.529000	0.35602	-0.200000	0.10954	0.676000	0.76740	0.038000	0.20882	0.000000	0.08366	0.004000	0.06068	0.1218:0.0:0.8782:0.0	7.950	0.29172	951	0.11083	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	477.27	20	chr1	64267089	.	G	A	477.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.47;DP=182;ExcessHet=0;FS=1.061;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.68;ReadPosRankSum=-1.904;SOR=0.454	GT:AD:DP:GQ:PL	0/1:32,23:55:99:487,0,765	5	0	1	1
chr1	68438977	68438977	A	C	exonic	RPE65	.	nonsynonymous SNV	RPE65:NM_000329:exon9:c.T963G:p.N321K	Leber congenital amaurosis 2, Autosomal recessive;Retinitis pigmentosa 20, Autosomal recessive	0	1482	40	0	0	40	0.0133156	.	.	YES	98767	Leber_congenital_amaurosis|Retinitis_pigmentosa|Joubert_syndrome_9|not_provided|Retinitis_pigmentosa_20|Leber_congenital_amaurosis_2|RPE65-related_recessive_retinopathy|not_specified	MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0012849,MedGen:C2676788,OMIM:612285,Orphanet:2318|MedGen:C3661900|MONDO:MONDO:0013425,MedGen:C3151086,OMIM:613794,Orphanet:791|MONDO:MONDO:0008765,MedGen:C1859844,OMIM:204100,Orphanet:65|MONDO:MONDO:0100368,MedGen:CN305526|MedGen:CN169374	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.215	.	0.0008	0.00499201	0.0054	0.0003	0.0013	0.0001	0	0.0012	0.0088	0.0328	0.0045278	700	154602	rs149916178	0.0028	0.0028	0.0016	0.0039	0.0357	0.0027	0.0027	0.0346	0.0342	0.0001	0.0011	0.0043	2.52e-05	1.872e-05	0.0090	0.0005	0.0026	0.0357	0.0014	0.0014	0.0008	0.0021	0.0280	0.0013	0.0012	0.0242	0.0227	9.628e-05	0	0.0008	0.0060	0.0004	0	0	0.0006	0.0019	0.0280	0.075	0.34444	T	0.146	0.32891	T	0.013	0.16609	B	0.027	0.21085	B	0.000617	0.42945	D	0.265288	0.999999	0.08975	N	1.575	0.39704	L	-3.49	0.94621	D	-1.32	0.32991	N	0.416	0.45615	-0.3705	0.72946	T	0.503	0.81256	D	10	0.011144489	0.00245	T	.	.	.	0.215	0.50805	0.835	0.94294	0.775488474258	0.77342	0.5935617026209556	0.59286	0.0643189233085	0.07168	0.274915516376	0.06793	T	0.72609	0.92296	D	-0.37845	0.03186	T	-0.290632	0.45707	T	0.00814690459576519	0.00097	T	0.927007	0.73102	D	0.18744066	0.40198	0.21505415	0.46079	0.18744066	0.40198	0.21505415	0.46079	-5.8	0.44574	T	0.21033390043485128	0.28177	0.121	0.25166	B	.	.	1.060416	0.14419	11.00	0.94426477776346773	0.24837	0.45798	0.27618	N	AEFBI	0.139898	0.26164	N	-0.9372702875546	0.09980	0.4748083	-0.892985305148867	0.12260	0.629581	0.607420407576686	0.21776	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.87	-0.301	0.12165	0.135000	0.15775	0.067000	0.14209	-0.562000	0.04833	0.889000	0.31176	0.000000	0.08366	0.953000	0.50222	0.4224:0.0:0.5776:0.0	9.370	0.37408	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.000000	0.004076	0.000000	0.050000	0.008621	0.012195	0.018939	0.07143	1145.46	40	chr1	68438977	.	A	C	1145.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.789;DP=282;ExcessHet=0;FS=0.736;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=-0.449;SOR=0.555	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1199	6	0	1	0
chr1	69994621	69994621	A	G	exonic	LRRC7	.	nonsynonymous SNV	LRRC7:NM_001350216:exon11:c.A995G:p.N332S,LRRC7:NM_001366838:exon11:c.A992G:p.N331S,LRRC7:NM_001370785:exon11:c.A992G:p.N331S,LRRC7:NM_001330635:exon12:c.A893G:p.N298S,LRRC7:NM_001366839:exon12:c.A893G:p.N298S,LRRC7:NM_001366841:exon12:c.A893G:p.N298S	.	450	1034	35	3	0	41	0.0194405	.	.	.	3886586	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.125	.	0.0087	0.00698882	0.0068	0.0152	0.0101	0	0.0009	0.0076	0.0144	0.0012	0.0067399	1042	154602	rs72676879	0.0053	0.0054	0.0053	0.0054	0.0790	0.0052	0.0052	0.0730	0.0706	0.0133	0.0112	0.0253	0	0.0010	0.0790	0.0044	0.0114	0.0013	0.0087	0.0087	0.0087	0.0086	0.0139	0.0083	0.0081	0.0130	0.0126	0.0139	0	0.0122	0.0199	0.0002	0.0005	0.1130	0.0058	0.0213	0.0004	0.073	0.36113	T	0.045	0.49390	D	0.367	0.34030	B	0.263	0.39594	B	0.000003	0.62929	D	0.100641	0.999829	0.81001	D	-0.31	0.03598	N	2.03	0.23884	T	-2.15	0.48687	N	0.396	0.43706	-1.0139	0.25688	T	0.021	0.08639	T	10	0.0067400336	0.00153	T	.	.	.	0.125	0.34456	.	.	0.559688537222	0.55629	0.5185816699323756	0.51781	2.17053411201	0.95497	0.640680670738	0.58661	T	0.028058	0.58333	T	-0.624144	0.00104	T	-0.657639	0.08426	T	0.0289290178431819	0.01827	T	0.936906	0.76326	D	0.15675013	0.35358	0.25773692	0.51495	0.15675013	0.35357	0.25773692	0.51494	-6.629	0.51274	T	.	.	0.065	0.01884	B	.;.	.;.	3.026350	0.40527	21.2	0.99803771616151216	0.88817	0.85774	0.44944	D	AEFBHCI	0.900326	0.84573	D	0.0587109992476847	0.44544	2.726515	0.226869211476675	0.51344	3.31772	0.999999973006373	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.662026	0.63922	0	.	.	5.4	5.4	0.77957	8.358000	0.89989	6.174000	0.54533	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.872000	0.41544	1.0:0.0:0.0:0.0	14.894	0.70271	913	0.21160	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.072077	0.158163	0.082880	0.099415	0.100000	0.068966	0.009146	0.007576	0.07143	895.44	35	chr1	69994621	.	A	G	895.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.615;DP=257;ExcessHet=0;FS=2.04;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-0.425;SOR=1.075	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1224	6	0	1	0
chr1	77632391	77632393	CCA	-	exonic	ZZZ3	.	nonframeshift deletion	ZZZ3:NM_001376151:exon3:c.962_964del:p.V321del,ZZZ3:NM_001376147:exon4:c.962_964del:p.V321del,ZZZ3:NM_001376149:exon4:c.962_964del:p.V321del,ZZZ3:NM_001376153:exon4:c.962_964del:p.V321del,ZZZ3:NM_001376146:exon5:c.962_964del:p.V321del,ZZZ3:NM_001376148:exon5:c.962_964del:p.V321del,ZZZ3:NM_001376154:exon5:c.962_964del:p.V321del,ZZZ3:NM_015534:exon5:c.962_964del:p.V321del	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	8.238e-06	0	0	0	0	1.499e-05	0	0	2.59e-05	4	154602	rs757957314	3.831e-05	3.831e-05	3.675e-05	3.988e-05	0.0007	3.025e-05	2.719e-05	0.0002	0.0001	0	0	0	0	0	0.0007	3.687e-05	4.967e-05	9.275e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-05	0.0004	5.24e-06	2.45e-06	7.282e-05	3.026e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	112.4	34	chr1	77632390	.	CCCA	C	112.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.15;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=28.1;ReadPosRankSum=0.319;SOR=0.916	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1235	6	0	1	0
chr1	77935995	77935995	G	A	exonic	NEXN	.	nonsynonymous SNV	NEXN:NM_001172309:exon10:c.G1232A:p.R411K,NEXN:NM_144573:exon11:c.G1424A:p.R475K	Cardiomyopathy, dilated, 1CC, Autosomal dominant;Cardiomyopathy, hypertrophic, 20, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00665660799398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.06847	T	0.764	0.04571	T	0.091	0.25247	B	0.016	0.17743	B	0.000023	0.55875	D	0.000000	0.606987	0.32587	D	0.975	0.24501	L	0.33	0.58323	T	0.77	0.02558	N	0.142	0.18103	-1.0525	0.13709	T	0.041	0.17488	T	10	0.12635311	0.24020	T	0.006657	0.17585	T	0.094	0.27141	0.272	0.22210	0.520586239559	0.51704	0.08362847643912337	0.08296	0.0483182337376	0.05281	0.503688514233	0.39341	T	0.007706	0.07099	T	-0.128727	0.31703	T	-0.422684	0.30769	T	0.675288915634155	0.39574	D	0.80142	0.44736	T	0.070407756	0.15505	0.08730277	0.20284	0.070407756	0.15505	0.08730277	0.20284	-3.317	0.14523	T	0.06871425045942398	0.02517	0.166	0.36554	B	.;.	.;.	2.462804	0.31732	18.83	0.92583887767275952	0.22042	0.94464	0.61249	D	AEFBI	0.704557	0.66024	D	-0.142333935333806	0.35562	2.044219	0.133413881396926	0.46268	2.875634	0.998533369466999	0.37148	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	6.03	6.03	0.97798	6.641000	0.74179	8.621000	0.77811	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0699:0.0:0.9301:0.0	13.716	0.62178	725	0.54935	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	55.48	11	chr1	77935995	.	G	A	55.48	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.368;DP=108;ExcessHet=0;FS=22.368;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.05;ReadPosRankSum=0;SOR=4.164	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,7:27:65:0|1:77935995_G_A:65,0,638:77935995	5	0	1	1
chr1	84479292	84479292	C	T	exonic	RPF1	.	nonsynonymous SNV	RPF1:NM_025065:exon1:c.C11T:p.A4V	.	420	1058	43	1	0	45	0.0208237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	.	0.0032	0.00938498	0.0077	0.0012	0.0048	0.0002	0.0090	0.0052	0.0093	0.0290	0.0062742	970	154602	rs145776320	0.0050	0.0050	0.0044	0.0056	0.0233	0.0049	0.0049	0.0224	0.0221	0.0006	0.0030	0.0019	2.534e-05	0.0087	0.0092	0.0038	0.0051	0.0233	0.0047	0.0047	0.0041	0.0053	0.0236	0.0044	0.0043	0.0201	0.0188	0.0006	0.0504	0.0048	0.0023	0	0.0094	0.0238	0.0048	0.0066	0.0236	0.033	0.44358	D	0.166	0.30828	T	0.0	0.02946	B	0.0	0.01387	B	0.250852	0.15513	N	0.659654	1	0.08975	N	0	0.06538	N	0.76	0.49919	T	-0.57	0.17210	N	0.162	0.19055	-1.0719	0.09001	T	0.025	0.10821	T	10	0.003259182	0.00056	T	.	.	.	0.096	0.27654	.	.	0.680047386688	0.67732	0.22224660766402687	0.22139	0.12998121625	0.14663	0.343664884567	0.16985	T	0.009167	0.08364	T	-0.532343	0.00372	T	-0.521194	0.20173	T	0.00951397986744732	0.00123	T	0.462454	0.13627	T	0.043112393	0.06663	0.059958003	0.11339	0.043112393	0.06662	0.059958003	0.11338	-4.719	0.33634	T	.	.	0.111	0.22391	B	.;.	.;.	1.868132	0.23728	16.13	0.99085465745944101	0.52075	0.18007	0.20080	N	ALL	0.089110	0.18063	N	-0.735227874754794	0.15036	0.7543253	-0.652024510879595	0.18165	0.9692089	0.999999999999662	0.74766	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	6.08	4.17	0.48303	-0.126000	0.10539	0.504000	0.19021	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.1265:0.5625:0.2247:0.0863	4.393	0.10780	636	0.64483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010081	0.000000	0.010870	0.002924	0.000000	0.000000	0.021472	0.018939	0.07143	143.53	16	chr1	84479292	.	C	T	143.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.408;DP=180;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=-1.634;SOR=0.527	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,103,1040	6	0	1	0
chr1	84520657	84520657	G	A	exonic	SPATA1	.	nonsynonymous SNV	SPATA1:NM_001310156:exon3:c.G109A:p.V37I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1370809242	4.921e-06	5.472e-06	2.787e-06	7.095e-06	0.0002	2.05e-06	1.32e-06	1.34e-06	9.7e-07	3.135e-05	0	0	0	0	0.0002	4.571e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29456955	0.47028	T	.	.	.	.	.	.	.	.	.	0.04230899706024219	0.04175	.	.	0.488867014647	0.37281	T	.	.	.	.	.	.	.	.	.	.	.	.	0.670533	0.27914	T	0.09606745	0.22621	0.33015117	0.58887	0.09606745	0.22621	0.33015117	0.58887	-4.984	0.36666	T	.	.	0.126	0.26700	B	.	.	3.029277	0.40572	21.2	0.78751429399539785	0.12437	0.85366	0.44492	D	AEFGI	.	.	.	.	.	.	.	.	.	0.00285520026888768	0.09753	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.062806	0.01542	0	0.350147	0.36219	5.35	4.45	0.53365	3.803000	0.55264	4.452000	0.43426	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0737:0.1403:0.7859:0.0	10.815	0.45776	683	0.59664	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	67.44	33	chr1	84520657	.	G	A	67.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.792;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=2.19;SOR=0.368	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1193	6	0	1	0
chr1	85158755	85158755	A	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.T3580C:p.F1194L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00654077122755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.23905	T	0.034	0.52727	D	0.0	0.02946	B	0.0	0.01387	B	0.089341	0.20432	N	0.527396	0.998858	0.21853	N	0	0.06538	N	3.28	0.06523	T	1.02	0.01369	N	0.042	0.01498	-0.9316	0.43903	T	0.002	0.00615	T	10	0.023369968	0.00610	T	0.006541	0.17243	T	0.020	0.03691	0.21	0.12781	0.0551355673512	0.04727	0.06610387111215123	0.06549	0.14237696093	0.16047	0.397826164961	0.24766	T	0.004802	0.04217	T	-0.355873	0.04369	T	-0.748963	0.03526	T	0.219421803951263	0.21435	T	0.513449	0.16474	T	0.053474132	0.10124	0.045122	0.05999	0.053474132	0.10124	0.045122	0.05999	-2.743	0.07671	T	.	.	0.392	0.59120	A	.	.	2.506013	0.32358	19.02	0.99124857947199441	0.53089	0.82995	0.42152	D	AEFGBI	0.191288	0.31849	N	-0.773932366158561	0.13992	0.6934386	-0.537640718649593	0.21134	1.141888	0.0731348463355377	0.15624	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	2.91	0.32903	2.498000	0.45023	3.315000	0.37496	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.3343:0.3872:0.1116:0.1669	1.797	0.02879	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	111.07	31	chr1	85158755	.	A	G	111.07	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.821;DP=278;ExcessHet=1.1394;FS=58.704;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=0.66;SOR=6.264	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:47,8:55:14:.:.:0,14,1376:.	4	0	3	0
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00707251258688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.132	0.27209	B	0.031	0.21939	B	0.000003	0.62929	D	0.141141	0.856995	0.28413	N	2.89	0.83701	M	3.03	0.08898	T	-1.07	0.27876	N	0.197	0.21710	-1.0013	0.29545	T	0.008	0.02926	T	10	0.10845104	0.20189	T	0.007073	0.18731	T	0.060	0.17295	0.133	0.03747	0.115124310173	0.11017	0.1666088604543345	0.16580	0.261245587848	0.28675	0.516227483749	0.41095	T	0.015102	0.12732	T	-0.18471	0.23038	T	-0.503099	0.22027	T	0.930839061737061	0.59580	D	0.288071	0.05188	T	0.4173487	0.61915	0.2945027	0.55481	0.4173487	0.61916	0.2945027	0.55480	-4.469	0.30481	T	.	.	0.083	0.09094	B	.	.	1.981754	0.25175	16.67	0.98157459387076473	0.38747	0.94396	0.61032	D	AEFGBI	0.405519	0.47837	N	-0.0772867669948402	0.38391	2.247741	0.106188889006462	0.44865	2.760029	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	580.22	31	chr1	85158757	.	C	G	580.22	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.575;DP=313;ExcessHet=11.5949;FS=185.984;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=0.994;SOR=8.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,11:50:99:.:.:132,0,1066:.	1	0	5	1
chr1	85158757	85158757	C	T	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578A:p.S1193N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0109281839246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.081	0.41742	T	0.958	0.54977	D	0.477	0.46994	P	0.000003	0.62929	D	0.141141	0.841424	0.28625	N	2.89	0.83701	M	3.01	0.09075	T	-1.36	0.33798	N	0.206	0.22870	-1.0896	0.05599	T	0.013	0.05273	T	10	0.1897026	0.34581	T	0.010928	0.28020	T	0.125	0.34456	0.093	0.01151	0.236890367714	0.23314	0.17515521952640145	0.17434	0.264699697906	0.29017	0.548633217812	0.45665	T	0.019491	0.15519	T	-0.177965	0.24039	T	-0.493411	0.23033	T	0.97476464509964	0.70646	D	0.379762	0.09155	T	0.4281341	0.62630	0.3544614	0.60990	0.4281341	0.62630	0.3544614	0.60990	-4.729	0.33754	T	.	.	0.092	0.13783	B	.	.	2.612422	0.33929	19.48	0.99246127042489396	0.56727	0.95586	0.65314	D	AEFGBI	0.675178	0.64065	D	0.296660874281403	0.55980	3.76211	0.369003311841199	0.59662	4.145805	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	580.22	31	chr1	85158757	.	C	T	580.22	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.575;DP=313;ExcessHet=11.5949;FS=185.984;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=0.994;SOR=8.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,2:50:99:.:.:132,175,1581:.	5	0	1	1
chr1	85182942	85182942	C	T	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon3:c.G1700A:p.R567Q	.	433	1080	8	1	0	10	0.00460829	.	.	.	3482129	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.016	0.00686139050758	0.0003	0.000199681	0.0004	0	0.0004	0	0.0002	0.0006	0.0011	0	0.0003169	49	154602	rs202166039	0.0003	0.0003	0.0003	0.0004	0.0014	0.0003	0.0003	0.0007	0.0007	2.987e-05	0.0010	0.0001	0	9.364e-05	0.0014	0.0004	0.0004	0.0002	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	2.409e-05	0	0.0004	0	0	0	0	0.0005	0.0009	0	0.636	0.05061	T	0.866	0.03352	T	0.003	0.11197	B	0.001	0.04355	B	0.389669	0.13273	N	0.720031	0.999974	0.18612	N	-0.315	0.03579	N	3.26	0.06681	T	0.21	0.04776	N	0.052	0.02366	-0.9202	0.45527	T	0.002	0.00707	T	10	0.0062747896	0.00142	T	0.006861	0.18149	T	0.016	0.02506	.	.	0.184867976434	0.18130	0.0960667226450037	0.09538	0.126926261757	0.14302	0.171866059303	0.00040	T	0.003877	0.03282	T	-0.645809	0.00077	T	-0.77585	0.02581	T	0.00334170502551714	0.00035	T	0.726327	0.34071	T	0.03275352	0.03360	0.036428217	0.03086	0.03275352	0.03359	0.036428217	0.03086	-2.887	0.09014	T	.	.	0.067	0.02458	B	.	.	0.398265	0.07698	4.371	0.76309711180950457	0.11416	0.04594	0.10247	N	AEFDBIJ	0.039952	0.05876	N	-1.48530915202629	0.01953	0.08575755	-1.39053105196033	0.03352	0.1561867	0.98848881228145	0.31531	0.554377	0.28877	0	0.588066	0.40923	0	0.566861	0.19136	0	0.421255	0.06892	1	.	.	5.41	-3.66	0.04200	0.275000	0.18461	0.025000	0.13648	-1.042000	0.01662	0.120000	0.23175	0.004000	0.18990	0.940000	0.48062	0.0:0.3536:0.3307:0.3158	6.864	0.23264	725	0.54935	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.005102	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1324.46	40	chr1	85182942	.	C	T	1324.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.68;DP=303;ExcessHet=0;FS=0.774;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=0.8;SOR=0.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,99,1485:.	6	0	1	0
chr1	86473447	86473447	C	A	exonic	CLCA1	.	nonsynonymous SNV	CLCA1:NM_001285:exon2:c.C193A:p.L65I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.00992971698464	.	.	8.244e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs2145412	5.499e-06	6.157e-06	4.105e-06	6.905e-06	5.423e-06	2.37e-06	1.71e-06	1.95e-06	1.28e-06	0	0	0	0	0	0	5.423e-06	3.327e-05	0	6.576e-06	6.566e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	0.001	0.07471	B	0.016	0.17743	B	0.000002	0.62929	D	0.059611	0.999998	0.08975	P	0	0.06538	N	2.67	0.12473	T	0.0	0.07008	N	0.121	0.11197	-1.0388	0.17678	T	0.012	0.04700	T	9	0.17780328	0.32833	T	0.00993	0.25856	T	0.137	0.36984	0.714	0.84962	0.30212335484	0.29822	0.5148361964369762	0.51406	0.0902555916639	0.10180	0.53259986639	0.43401	T	0.046075	0.27314	T	-0.206906	0.19818	T	-0.534982	0.18792	T	0.41324719786644	0.29439	T	0.868713	0.57175	D	0.19434205	0.41180	0.16100185	0.37472	0.19434205	0.41180	0.16100185	0.37471	-5.436	0.41265	T	.	.	0.089	0.12323	B	.;.	.;.	2.665797	0.34737	19.71	0.98911680532946056	0.48381	0.47859	0.28077	N	AEFBI	0.108291	0.21547	N	-0.326527775749523	0.28144	1.549911	-0.158318572335012	0.33090	1.889193	0.00755488696918852	0.11493	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.56	5.56	0.83678	2.518000	0.45198	6.223000	0.55146	-0.108000	0.15293	0.999000	0.42656	1.000000	0.68203	0.778000	0.36829	0.134:0.072:0.0:0.7941	6.799	0.22927	781	0.47532	Calcium-activated chloride channel, N-terminal;Calcium-activated chloride channel, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	8949.6	44	chr1	86473447	.	C	A	8949.6	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.205;DP=350;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=26.09;ReadPosRankSum=-0.044;SOR=0.68	GT:AD:DP:GQ:PL	0/0:0,0:62:99:1719,1719,1719	5	0	1	1
chr1	86499854	86499854	C	A	exonic	CLCA1	.	nonsynonymous SNV	CLCA1:NM_001285:exon14:c.C2554A:p.L852M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00747187765073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.11	0.37310	T	1.0	0.90584	D	0.99	0.78936	D	0.002639	0.36208	N	0.185634	1	0.08975	N	3.515	0.92918	H	3.98	0.03297	T	-0.94	0.25118	N	0.363	0.40963	-1.0309	0.20163	T	0.019	0.07800	T	10	0.25041306	0.42367	T	0.007472	0.19819	T	0.094	0.27141	0.535	0.64439	0.536381233585	0.53288	0.39654868406335747	0.39569	0.408995552673	0.41722	0.44312992692	0.31005	T	0.056566	0.30323	T	-0.168517	0.25460	T	-0.47984	0.24464	T	0.951861381530762	0.63658	D	0.60344	0.22635	T	0.15509796	0.35070	0.11052708	0.26652	0.15509796	0.35070	0.11052708	0.26651	-8.282	0.62975	D	.	.	0.124	0.26138	B	.;.	.;.	3.489487	0.48768	22.7	0.99539975284751558	0.70461	0.14153	0.18251	N	AEFBHCI	0.122472	0.23763	N	0.179827169834364	0.50230	3.215141	0.0177155044843654	0.40537	2.420877	0.826810633989645	0.24621	0.525926	0.21836	0	0.615948	0.52940	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	5.59	3.73	0.41982	0.503000	0.22318	0.644000	0.20348	0.599000	0.40250	0.162000	0.23825	0.110000	0.22784	0.956000	0.50813	0.1442:0.7034:0.0:0.1523	6.506	0.21391	751	0.51694	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2503.63	40	chr1	86499854	.	C	A	2503.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.238;DP=402;ExcessHet=0;FS=0.51;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.485;SOR=0.746	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,104,1389	6	0	1	0
chr1	86560319	86560319	C	T	exonic	CLCA4	.	nonsynonymous SNV	CLCA4:NM_012128:exon3:c.C409T:p.L137F	.	427	1070	24	1	0	26	0.0120037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00244206833483	0.0008	0.000199681	0.0011	0.0002	0.0008	0	0	0.0016	0.0056	0.0010	0.0011125	172	154602	rs55712824	0.0010	0.0010	0.0010	0.0011	0.0322	0.0010	0.0010	0.0285	0.0270	0.0013	0.0018	0.0004	2.519e-05	3.744e-05	0.0322	0.0008	0.0023	0.0013	0.0011	0.0011	0.0012	0.0011	0.0024	0.0010	0.0009	0.0018	0.0016	0.0005	0.0044	0.0024	0.0009	0	9.425e-05	0.0238	0.0012	0.0038	0.0015	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000135	0.49741	N	0.175187	1	0.81001	D	-3.32	0.00005	N	3.15	0.07820	T	4.44	0.00038	N	0.113	0.10056	-0.9399	0.42632	T	0.001	0.00348	T	10	0.004258901	0.00085	T	0.002442	0.04813	T	0.048	0.13305	.	.	0.0297737177859	0.01360	0.38250703500181077	0.38165	0.0722242068583	0.08101	0.392732053995	0.24053	T	0.045084	0.27013	T	-0.646459	0.00076	T	-0.725997	0.04511	T	0.0125906612122404	0.00210	T	0.456654	0.13107	T	0.036146015	0.04390	0.04545757	0.06119	0.036146015	0.04390	0.04545757	0.06119	2.739	0.00027	T	.	.	0.057	0.00533	B	.	.	-0.329020	0.02492	0.292	0.13663901923835356	0.00276	0.07556	0.13568	N	AEFGBI	0.031100	0.03257	N	-1.18467785776454	0.05232	0.2380014	-0.903761612092136	0.12006	0.6150653	7.15270857349529E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.74	-0.186	0.12620	0.913000	0.28233	-0.401000	0.09410	-0.732000	0.03721	1.000000	0.71638	0.000000	0.08366	0.850000	0.40195	0.1139:0.0658:0.2095:0.6108	4.55	0.11507	808	0.43318	Calcium-activated chloride channel, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.037261	0.050505	0.025815	0.087719	0.050000	0.077586	0.000000	0.018939	0.07143	508.63	36	chr1	86560319	.	C	T	508.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.067;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=-0.175;SOR=0.776	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	6	0	1	0
chr1	88828501	88828501	A	G	exonic	PKN2	.	nonsynonymous SNV	PKN2:NM_001320707:exon18:c.A2296G:p.T766A,PKN2:NM_001320708:exon18:c.A1969G:p.T657A,PKN2:NM_001320709:exon19:c.A2392G:p.T798A,PKN2:NM_006256:exon19:c.A2440G:p.T814A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.0237290668082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.003	0.76473	D	0.105	0.25993	B	0.064	0.27215	B	0.061010	0.22205	U	0.257134	1	0.81001	D	0.74	0.18910	N	1.85	0.24472	T	-4.45	0.77881	D	0.693	0.87808	-1.0497	0.14481	T	0.038	0.16548	T	10	0.6690128	0.70599	D	0.023729	0.46702	T	0.339	0.66106	0.562	0.68229	0.816907722137	0.81518	0.6019331007001663	0.60124	1.13339230401	0.78694	0.823017835617	0.85490	D	0.285593	0.65838	T	0.103359	0.64653	D	-0.0893077	0.64214	T	0.96938419342041	0.68571	D	0.689231	0.29860	T	0.5339224	0.69053	0.50177974	0.71198	0.5339224	0.69054	0.50177974	0.71199	-11.145	0.83043	D	.	.	0.995	0.95627	P	.;.	.;.	4.289838	0.65412	24.8	0.99199525904477559	0.55231	0.98985	0.89557	D	AEFDBI	0.865335	0.78439	D	0.230177400171361	0.52667	3.439384	0.37420527466999	0.59978	4.180648	0.99996702178357	0.48965	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.94	4.94	0.64645	8.947000	0.92735	11.163000	0.87713	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.755	0.69171	885	0.28214	Protein kinase domain|Protein kinase domain|Protein kinase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	69.44	33	chr1	88828501	.	A	G	69.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.319;DP=190;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.36;ReadPosRankSum=1.15;SOR=0.446	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1110	6	0	1	0
chr1	89120195	89120195	C	T	exonic	GBP2	.	nonsynonymous SNV	GBP2:NM_004120:exon4:c.G412A:p.A138T	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.472	.	0.0012	0.000998403	0.0018	0.0003	0.0003	0	0.0138	0.0015	0.0011	0.0012	0.0015977	247	154602	rs138509928	0.0015	0.0015	0.0015	0.0016	0.0016	0.0015	0.0015	0.0012	0.0012	0.0002	0.0007	0.0001	0	0.0111	0.0016	0.0013	0.0013	0.0010	0.0016	0.0016	0.0012	0.0021	0.0014	0.0014	0.0014	0.0012	0.0011	0.0001	0	0.0003	0.0003	0.0002	0.0121	0	0.0014	0.0014	0.0012	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000700	0.42383	U	0.091160	0.776409	0.34213	D	3.96	0.96509	H	-1.09	0.77206	T	-3.71	0.70674	D	0.558	0.58287	0.471	0.90140	D	0.635	0.87207	D	10	0.0233365	0.00608	T	.	.	.	0.472	0.76554	.	.	0.945805394361	0.94524	0.5026369878473099	0.50185	0.488276187908	0.47633	0.480822861195	0.36170	T	0.702388	0.91442	D	-0.272142	0.11518	T	-0.169856	0.57457	T	0.140860816109978	0.16350	T	0.989768	0.96706	D	0.70123845	0.78124	0.8065988	0.88684	0.70123845	0.78126	0.8065988	0.88685	-9.419	0.70354	D	.	.	0.361	0.57286	A	.	.	4.398329	0.67932	25.2	0.99889628639260231	0.96436	0.89626	0.50211	D	AEFBI	0.542977	0.55849	D	0.771508424856484	0.84298	8.248556	0.64569111548822	0.78289	6.846605	0.995990020862223	0.34457	0.706548	0.73137	0	0.659464	0.62310	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.62	3.62	0.40616	5.827000	0.68989	1.611000	0.27635	-0.185000	0.09859	1.000000	0.71638	0.838000	0.27274	0.269000	0.23743	0.0:1.0:0.0:0.0	13.227	0.59349	708	0.56926	Guanylate-binding protein, N-terminal|GB1/RHD3-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	811.44	86	chr1	89120195	.	C	T	811.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.043;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=0.337;SOR=0.752	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1321	6	0	1	0
chr1	89150350	89150350	C	A	exonic	GBP7	.	nonsynonymous SNV	GBP7:NM_207398:exon6:c.G851T:p.G284V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.531	0.291519780895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.994	0.82059	D	0.000109	0.50451	D	0.129946	0.999994	0.58761	D	4.085	0.97236	H	-1.27	0.79277	T	-8.69	0.97617	D	0.537	0.56489	0.584	0.91693	D	0.680	0.88929	D	10	0.95483285	0.94838	D	0.29152	0.90580	D	0.531	0.80247	0.859	0.95718	0.757999785277	0.75580	0.5559184559761924	0.55518	0.272749980587	0.29779	0.386921703815	0.23235	T	0.085685	0.37556	T	0.110339	0.65388	D	-0.0792819	0.64957	T	0.961020061099325	0.65964	D	0.927507	0.96889	D	0.8986516	0.91263	0.8950689	0.94626	0.8986516	0.91264	0.8950689	0.94626	-10.97	0.79494	D	.	.	0.311	0.53861	B	.;.	.;.	3.874325	0.56268	23.7	0.99466552095215188	0.66102	0.66382	0.33059	D	AEFI	0.373130	0.45851	N	0.3033270486675	0.56318	3.796442	0.032562507085557	0.41236	2.474085	0.999996147569146	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.4	3.4	0.38031	1.916000	0.39617	-2.504000	0.03674	0.599000	0.40250	0.152000	0.23684	0.000000	0.08366	0.692000	0.33898	0.0:1.0:0.0:0.0	12.324	0.54327	598	0.68232	Guanylate-binding protein/Atlastin, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1261.44	33	chr1	89150350	.	C	A	1261.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.12;DP=332;ExcessHet=0;FS=0.678;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=-0.606;SOR=0.776	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	6	0	1	0
chr1	89191383	89191383	T	C	exonic	GBP4	.	nonsynonymous SNV	GBP4:NM_052941:exon6:c.A794G:p.D265G	.	426	1081	15	0	0	15	0.00689022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.0432146992987	0.0003	0.000399361	0.0006	0.0002	8.637e-05	0	0	0.0005	0	0.0021	0.0004981	77	154602	rs201411513	0.0002	0.0002	0.0002	0.0003	0.0025	0.0002	0.0002	0.0023	0.0021	2.987e-05	0	0.0023	0	0	0.0007	4.406e-05	0.0003	0.0025	0.0001	0.0001	6.424e-05	0.0002	0.0029	9.736e-05	8.252e-05	0.0018	0.0014	0	0	0	0.0023	0	0	0	0	0	0.0029	0.011	0.55530	D	0.001	0.83351	D	0.02	0.18235	B	0.022	0.19653	B	0.291093	0.14767	N	0.663946	1	0.08975	N	2.205	0.62170	M	-1.12	0.77593	T	-3.51	0.68298	D	0.401	0.44187	-0.6891	0.60950	T	0.234	0.60099	T	10	0.017451495	0.00373	T	0.043215	0.60869	D	0.283	0.60100	.	.	0.814452550499	0.81271	0.5009065058856161	0.50012	0.162938723387	0.18388	0.349341213703	0.17825	T	0.34834	0.71634	T	-0.403078	0.02210	T	-0.357318	0.38363	T	0.0709536894361799	0.08784	T	0.336266	0.07184	T	0.23761347	0.46627	0.20071071	0.44015	0.23761347	0.46627	0.20071071	0.44014	-4.947	0.36259	T	.	.	0.075	0.05711	B	.	.	3.002746	0.40130	21.1	0.97972601104124046	0.37261	0.84173	0.43256	D	AEFHCI	0.376549	0.46065	N	-0.348469870573523	0.27328	1.498502	-0.337186150245	0.26909	1.489528	0.924106724571239	0.26767	0.615465	0.37627	0	0.633656	0.55848	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.28	4.14	0.47821	5.781000	0.68615	2.886000	0.35360	0.650000	0.52971	0.994000	0.38300	0.268000	0.24029	0.001000	0.02609	0.1517:0.0:0.0:0.8483	9.980	0.40980	480	0.77422	Guanylate-binding protein, N-terminal|GB1/RHD3-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.007576	0.07143	2126.45	35	chr1	89191383	.	T	C	2126.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.03;DP=387;ExcessHet=0;FS=6.019;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=1.23;SOR=0.82	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1204	6	0	1	0
chr1	89384167	89384167	C	T	exonic	GBP6	.	stopgain	GBP6:NM_001320257:exon8:c.C1153T:p.Q385X,GBP6:NM_198460:exon10:c.C1543T:p.Q515X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.278e-06	0	0	0	0	1.504e-05	0	0	6.5e-06	1	154602	rs758923564	6.841e-07	6.841e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008936	0.01224	N	2.991740	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.065	0.03726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0806481	0.62116	D	-0.106445	0.62893	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.435583	0.68827	25.3	0.92633165792846084	0.22105	0.00976	0.03727	N	AEFBI	0.026896	0.02103	N	-0.710951026115001	0.15713	0.7943107	-1.16613655634035	0.06483	0.3122076	0.999774283534833	0.42865	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.19	-10.4	0.00257	-2.125000	0.01404	-20.000000	0.00162	-0.947000	0.02050	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4041:0.2379:0.358:0.0	10.245	0.42512	669	0.61081	Guanylate-binding protein/Atlastin, C-terminal|Guanylate-binding protein, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1433.45	35	chr1	89384167	.	C	T	1433.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.72;DP=325;ExcessHet=0;FS=1.567;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=0.144;SOR=0.883	GT:AD:DP:GQ:PL	0/1:51,54:105:99:1444,0,1143	6	0	1	0
chr1	91273768	91273768	T	C	exonic	HFM1	.	nonsynonymous SNV	HFM1:NM_001017975:exon34:c.A3716G:p.D1239G	Premature ovarian failure 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.0129675626511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.17126	T	0.276	0.21947	T	0.001	0.07471	B	0.002	0.06944	B	0.995385	0.08002	N	0.997803	1	0.08975	N	1.01	0.25309	L	0.2	0.60111	T	-1.68	0.40082	N	0.194	0.21319	-0.9741	0.36323	T	0.022	0.09421	T	10	0.07139704	0.10519	T	0.012968	0.31999	T	0.060	0.17295	0.317	0.29419	0.195762928549	0.19159	0.13600838248376196	0.13524	0.0614077385657	0.06845	0.3179076612	0.13104	T	0.025247	0.18916	T	-0.0963176	0.37035	T	-0.37613	0.36174	T	0.0387190841138363	0.03461	T	0.566943	0.20077	T	0.097478	0.22978	0.099358685	0.23720	0.097478	0.22978	0.099358685	0.23719	-3.804	0.20864	T	.	.	0.074	0.05017	B	.	.	1.668697	0.21274	15.13	0.94057467928017013	0.24191	0.06785	0.12808	N	AEFBI	0.126535	0.24351	N	-0.508327220555235	0.21809	1.160179	-0.568825000469618	0.20308	1.093551	5.74634128277571E-4	0.07363	0.616025	0.39624	0	0.573888	0.26702	0	0.573888	0.23631	0	0.677038	0.66255	0	.	.	5.75	0.634	0.16889	-0.012000	0.12637	0.673000	0.20610	0.663000	0.56723	0.124000	0.23245	0.470000	0.25048	0.911000	0.44643	0.0:0.1606:0.2981:0.5413	4.951	0.13363	648	0.63242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr1	91273768	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,107,1131	6	1	0	0
chr1	92289136	92289136	T	C	exonic	GLMN	.	nonsynonymous SNV	GLMN:NM_001319683:exon6:c.A410G:p.H137R,GLMN:NM_053274:exon6:c.A410G:p.H137R	Glomuvenous malformations, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00707986389504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.06204	T	0.796	0.04117	T	0.0	0.02946	B	0.0	0.01387	B	0.196278	0.16716	N	0.640866	1	0.08975	N	0	0.06538	N	0.94	0.43672	T	0.19	0.04947	N	0.149	0.15187	-0.9463	0.41599	T	0.013	0.05177	T	10	0.042115748	0.02930	T	0.00708	0.18759	T	0.025	0.05312	0.431	0.48007	0.365317461125	0.36143	0.13815583759797023	0.13739	0.168159749984	0.18958	0.28011405468	0.07508	T	0.005857	0.05306	T	-0.368954	0.03648	T	-0.767753	0.02842	T	0.0218109226788054	0.00888	T	0.692631	0.30204	T	0.070115834	0.15418	0.03543028	0.02792	0.070115834	0.15418	0.03543028	0.02792	-2.634	0.06766	T	0.1431295557594327	0.16244	0.059	0.00793	B	.	.	0.428178	0.07985	4.701	0.63619871912086623	0.07272	0.04442	0.10042	N	AEFDGBI	0.036325	0.04822	N	-1.09143719812292	0.06800	0.3140706	-1.00913059335626	0.09584	0.4776357	0.897278748322942	0.25998	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.51	-3.98	0.03810	-0.624000	0.05637	1.067000	0.23771	0.609000	0.47794	0.024000	0.20007	1.000000	0.68203	0.993000	0.69303	0.0:0.4768:0.2495:0.2737	9.344	0.37262	593	0.68665	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	570.63	35	chr1	92289136	.	T	C	570.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.853;DP=253;ExcessHet=0;FS=1;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.61;ReadPosRankSum=0.427;SOR=0.495	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr1	92291432	92291432	C	T	exonic	GLMN	.	nonsynonymous SNV	GLMN:NM_001319683:exon4:c.G271A:p.D91N,GLMN:NM_053274:exon4:c.G271A:p.D91N	Glomuvenous malformations, Autosomal dominant	2	1456	62	2	0	66	0.0221625	.	.	.	281879	GLMN-related_disorder|not_specified|not_provided|Glomuvenous_malformation	.|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007672,MedGen:C1841984,OMIM:138000,Orphanet:83454	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.107	.	0.0014	0.00399361	0.0043	0.0007	0.0023	0	0.0006	0.0026	0.01	0.0185	0.0037645	582	154602	rs144577963	0.0024	0.0025	0.0018	0.0031	0.0196	0.0024	0.0023	0.0188	0.0185	0.0008	0.0016	0.0115	5.062e-05	0.0003	0.0167	0.0010	0.0041	0.0196	0.0017	0.0017	0.0016	0.0018	0.0180	0.0015	0.0015	0.0150	0.0138	0.0007	0	0.0016	0.0112	0	9.439e-05	0.0136	0.0010	0.0033	0.0180	0.59	0.05808	T	0.626	0.07292	T	0.92	0.51019	P	0.652	0.52532	P	0.004104	0.34102	N	0.361905	0.995118	0.42550	D	1.27	0.32069	L	0.99	0.41750	T	0.1	0.05810	N	0.206	0.22870	-1.0460	0.15534	T	0.071	0.28969	T	10	0.007840723	0.00178	T	.	.	.	0.107	0.30369	.	.	0.741568591866	0.73925	0.12471307705419836	0.12397	0.140332092331	0.15827	0.491998851299	0.37715	T	0.006118	0.05559	T	-0.573299	0.00211	T	-0.580685	0.14484	T	0.0164571894811833	0.00411	T	0.782822	0.41925	T	0.08475475	0.19631	0.06132504	0.11821	0.08909026	0.20803	0.059703197	0.11248	-4.169	0.26301	T	0.16518105712076733	0.20460	0.099	0.16670	B	.	.	3.129037	0.42274	21.5	0.9978606915748448	0.87219	0.61917	0.31625	D	AEFDGBHCI	0.140246	0.26209	N	0.126214685035754	0.47687	2.991044	0.138291058977657	0.46526	2.89707	0.999371870790072	0.39355	0.656854	0.48797	0	0.382747	0.06278	2	0.67347	0.61138	0	0.636	0.56748	0	.	.	5.86	4.93	0.64394	1.528000	0.35592	4.928000	0.46104	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.7861:0.138:0.0759	9.76	0.39694	590	0.68897	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.009567	0.010101	0.002717	0.000000	0.000000	0.008621	0.009146	0.026515	0.07143	345.49	40	chr1	92291432	.	C	T	345.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.908;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=1.06;SOR=0.675	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1289	6	0	1	0
chr1	94008251	94008251	C	T	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon42:c.G5882A:p.G1961E	Cone-rod dystrophy 3;Fundus flavimaculatus, Autosomal recessive;Retinal dystrophy, early-onset severe, Autosomal recessive;Retinitis pigmentosa 19;Stargardt disease 1, Autosomal recessive	0	1444	76	2	0	80	0.0269542	.	.	YES	22927	Macular_dystrophy|Severe_early-childhood-onset_retinal_dystrophy|Inborn_genetic_diseases|Retinitis_pigmentosa_19|Age_related_macular_degeneration_2|Cone-rod_dystrophy_3|Retinal_dystrophy|See_cases|Retinitis_pigmentosa|not_specified|Cone_dystrophy|ABCA4-related_retinopathy|Syndromic_retinitis_pigmentosa|not_provided|ABCA4-related_disorder|Stargardt_disease|MACULAR_DEGENERATION,_AGE-RELATED,_2,_SUSCEPTIBILITY_TO	Human_Phenotype_Ontology:HP:0007638,Human_Phenotype_Ontology:HP:0007754,Human_Phenotype_Ontology:HP:0007798,Human_Phenotype_Ontology:HP:0007914,Human_Phenotype_Ontology:HP:0007919,Human_Phenotype_Ontology:HP:0007999,MedGen:C0730292|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011137,MedGen:C1866422,OMIM:601718,Orphanet:791|MONDO:MONDO:0007932,MedGen:C3495438,OMIM:153800|MONDO:MONDO:0011395,MedGen:C1858806,OMIM:604116,Orphanet:1872|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|.|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN169374|MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871|MONDO:MONDO:0800406,MedGen:CN322612|MedGen:C5680332,Orphanet:98661|MedGen:C3661900|MedGen:CN239167|MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic/Pathogenic,_low_penetrance	.	.	.	.	.	.	.	.	0.760	.	0.0032	0.00319489	0.0051	0.0009	0.0022	0.0003	0.0008	0.0047	0.0099	0.0150	0.0046054	712	154602	rs1800553	0.0034	0.0035	0.0030	0.0038	0.0205	0.0034	0.0033	0.0175	0.0163	0.0011	0.0018	0.0222	0.0005	0.0012	0.0205	0.0024	0.0055	0.0131	0.0031	0.0031	0.0030	0.0032	0.0127	0.0029	0.0028	0.0101	0.0092	0.0006	0	0.0038	0.0239	0	0.0009	0.0238	0.0032	0.0047	0.0127	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.115	0.04602	N	-3.22	0.93352	D	-6.59	0.91998	D	0.958	0.96758	0.718	0.93404	D	0.700	0.89672	D	10	0.013598174	0.00288	T	.	.	.	0.760	0.91837	.	.	0.95236220007	0.95186	0.9507908195564003	0.95063	0.525691241502	0.50218	0.808941185474	0.83330	D	0.735078	0.96525	D	0.104235	0.64747	D	0.388626	0.91732	D	0.0712524204673148	0.08825	T	0.987126	0.95588	D	0.9324829	0.94486	0.8545386	0.91810	0.84769195	0.87167	0.8462905	0.91256	-11.219	0.80845	D	.	.	0.798	0.79927	P	.;.	.;.	4.838295	0.78968	27.0	0.99769034245070287	0.85750	0.99004	0.89829	D	AEFGBI	0.838463	0.75598	D	0.346386318059294	0.58550	4.028	0.449684121595667	0.64697	4.730842	0.999999999850586	0.74766	0.549168	0.22868	0	0.563428	0.19063	0	0.59043	0.30614	0	0.616125	0.45549	0	.	.	5.35	5.35	0.76297	5.885000	0.69480	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.698000	0.34080	0.0:1.0:0.0:0.0	19.614	0.95621	400	0.82730	ABC transporter-like|ABC transporter-like;ABC transporter-like|ABC transporter-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.021148	0.005051	0.020380	0.023392	0.000000	0.043103	0.015244	0.030303	0.07143	1300.63	33	chr1	94008251	.	C	T	1300.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.339;DP=271;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=2.04;SOR=0.76	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1131	6	0	1	0
chr1	94077833	94077833	C	T	exonic	ABCA4	.	nonsynonymous SNV	ABCA4:NM_000350:exon11:c.G1411A:p.E471K	Cone-rod dystrophy 3;Fundus flavimaculatus, Autosomal recessive;Retinal dystrophy, early-onset severe, Autosomal recessive;Retinitis pigmentosa 19;Stargardt disease 1, Autosomal recessive	1	1517	4	0	0	4	0.00131666	.	.	YES	104942	not_provided|not_specified|Stargardt_disease|Age_related_macular_degeneration_2|Retinal_dystrophy|Inborn_genetic_diseases|ABCA4-related_disorder|Severe_early-childhood-onset_retinal_dystrophy	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019353,MedGen:C0271093,Orphanet:827|MONDO:MONDO:0007932,MedGen:C3495438,OMIM:153800|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MeSH:D030342,MedGen:C0950123|MedGen:CN239167|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.491	0.217220130875	0.0008	.	0.0009	0	0	0	0.0006	0.0015	0	0.0006	0.000815	126	154602	rs1800548	0.0007	0.0007	0.0007	0.0007	0.0009	0.0007	0.0007	0.0007	0.0006	8.961e-05	6.708e-05	0.0060	0	0.0007	0.0003	0.0006	0.0010	0.0009	0.0009	0.0009	0.0010	0.0008	0.0014	0.0008	0.0007	0.0011	0.0011	2.412e-05	0	0.0003	0.0084	0	0.0003	0	0.0014	0.0005	0.0006	0.917	0.02327	T	0.761	0.04619	T	0.004	0.12183	B	0.007	0.12992	B	0.001067	0.40389	N	0.252125	0.999798	0.49177	D	2.08	0.57402	M	-1.96	0.85091	D	-0.58	0.17417	N	0.796	0.79214	-0.4371	0.70827	T	0.340	0.70592	T	10	0.008672595	0.00196	T	0.21722	0.87598	D	0.491	0.77783	.	.	0.856801206669	0.85542	0.8102918542155326	0.80984	0.104981071389	0.11866	0.287962198257	0.08626	T	0.316653	0.68817	T	-0.127296	0.31933	T	0.0403804	0.72953	D	0.0361554449678289	0.03007	T	0.835916	0.50694	T	0.23064275	0.45823	0.15203673	0.35788	0.2182309	0.44326	0.14346135	0.34092	-5.969	0.46019	T	.	.	0.082	0.08560	B	.;.	.;.	2.746163	0.35986	20.1	0.88396806040854004	0.17944	0.94064	0.60003	D	AEFBI	0.419695	0.48682	N	-0.158588918330669	0.34870	1.995898	0.00268211559618181	0.39840	2.36836	0.999999277561146	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.94	4.94	0.64645	0.741000	0.25870	3.842000	0.40046	0.599000	0.40250	0.026000	0.20160	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.716	0.91639	684	0.59539	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	3353.44	34	chr1	94077833	.	C	T	3353.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.852;DP=428;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=-0.385;SOR=0.714	GT:AD:DP:GQ:PL	0/1:93,135:228:99:3364,0,2176	6	0	1	0
chr1	94857391	94857391	C	T	exonic	SLC44A3	.	nonsynonymous SNV	SLC44A3:NM_001258342:exon9:c.C1021T:p.R341W,SLC44A3:NM_001258343:exon9:c.C925T:p.R309W,SLC44A3:NM_001301079:exon9:c.C889T:p.R297W,SLC44A3:NM_001350223:exon9:c.C838T:p.R280W,SLC44A3:NM_152369:exon9:c.C985T:p.R329W,SLC44A3:NM_001114106:exon10:c.C1129T:p.R377W,SLC44A3:NM_001258340:exon10:c.C1129T:p.R377W,SLC44A3:NM_001258341:exon10:c.C1033T:p.R345W	.	427	1092	3	0	0	3	0.00137174	.	.	.	2335109	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.281	0.0260845265698	.	0.000199681	8.243e-05	0	0.0006	0	0	1.5e-05	0	0.0001	7.12e-05	11	154602	rs142721068	6.432e-05	6.43e-05	6.127e-05	6.74e-05	0.0005	5.363e-05	4.978e-05	0.0003	0.0003	0	0.0005	0	0	0	0	5.486e-05	3.312e-05	0.0001	5.253e-05	5.249e-05	5.139e-05	5.372e-05	0.0001	2.556e-05	1.829e-05	2.846e-05	1.858e-05	0	0	0.0001	0	0	0	0	7.349e-05	0.0005	0	0.003	0.68238	D	0.01	0.66756	D	0.928	0.90584	P	0.631	0.72444	P	0.029176	0.25493	N	0.289069	0.999879	0.50225	D	2.255	0.64187	M	1.93	0.22881	T	-4.5	0.78135	D	0.69	0.69562	-1.0231	0.22704	T	0.114	0.40605	T	10	0.4808336	0.60420	T	0.026085	0.49023	D	0.281	0.59861	.	.	0.382925413656	0.37900	0.3919339828726339	0.39108	0.601515710117	0.55188	0.287037789822	0.08493	T	0.064336	0.32408	T	-0.298199	0.08829	T	-0.307537	0.43924	T	0.688658177852631	0.40186	D	0.943406	0.78638	D	0.5347732	0.69102	0.4752286	0.69590	0.5347732	0.69103	0.4752286	0.69590	-6.405	0.49782	T	.	.	0.095	0.16187	B	.;.;.;.;.;.	.;.;.;.;.;.	4.656088	0.74273	26.1	0.99921024608541942	0.98721	0.96082	0.67451	D	AEFBI	0.863371	0.78189	D	0.604937583160892	0.73485	5.974019	0.538926801532796	0.70631	5.533605	0.999999999588032	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.584449	0.35598	0	.	.	4.8	4.8	0.61157	4.561000	0.60519	3.230000	0.36903	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.731000	0.35132	0.0:0.9088:0.0:0.0912	11.941	0.52186	660	0.61921	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	592.27	34	chr1	94857391	.	C	T	592.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.5;DP=232;ExcessHet=0;FS=2.09;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=-1.523;SOR=1.022	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1171	5	0	1	1
chr1	97699474	97699474	T	C	exonic	DPYD	.	nonsynonymous SNV	DPYD:NM_000110:exon6:c.A557G:p.Y186C	Dihydropyrimidine dehydrogenase deficiency, Autosomal recessive;5-fluorouracil toxicity, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	105990	DPYD-related_disorder|fluorouracil_response_-_Other|fluorouracil_response_-_Toxicity|Dihydropyrimidine_dehydrogenase_deficiency|not_specified|not_provided	.|.|.|MONDO:MONDO:0010130,MedGen:C1959620,OMIM:274270,Orphanet:1675|MedGen:CN169374|MedGen:C3661900	reviewed_by_expert_panel	drug_response	.	.	.	.	.	.	.	.	0.581	.	0.0075	0.00638978	0.0023	0.0254	0.0010	0	0	0.0001	0.0011	0	0.0021539	333	154602	rs115232898	0.0006	0.0006	0.0007	0.0005	0.0210	0.0006	0.0005	0.0197	0.0192	0.0210	0.0008	0	0	0	0.0010	1.709e-05	0.0014	3.479e-05	0.0058	0.0058	0.0062	0.0054	0.0202	0.0055	0.0054	0.0191	0.0186	0.0202	0	0.0020	0	0	0	0	4.413e-05	0.0052	0	0.021	0.49117	D	0.008	0.67890	D	0.999	0.77913	D	0.925	0.65999	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	0.97	0.24054	L	-1.53	0.81559	D	-5.73	0.87611	D	0.909	0.91047	0.009	0.82431	D	0.527	0.82394	D	10	0.010817081	0.00239	T	.	.	.	0.581	0.83137	.	.	0.944856243566	0.94427	0.7632409529192293	0.76272	0.383972811341	0.39712	0.612043678761	0.54606	T	0.461096	0.79801	T	-0.328698	0.06211	T	-0.226675	0.52092	T	0.0439466619637672	0.04410	T	0.90351	0.66162	D	0.3875599	0.59858	0.26694965	0.52547	0.45106363	0.64109	0.2732069	0.53237	-9.527	0.71026	D	0.6176486508555453	0.68574	0.153	0.33891	B	.	.	4.494550	0.70240	25.5	0.99838968288282215	0.91972	0.94025	0.59887	D	AEFBI	0.689626	0.65023	D	0.584083522095836	0.72183	5.765459	0.538578614473462	0.70608	5.530068	0.00317002073316046	0.09966	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.5	2.94	0.33188	3.679000	0.54368	2.816000	0.34935	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2249:0.0:0.0:0.7751	10.818	0.45791	878	0.29785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	947.63	33	chr1	97699474	.	T	C	947.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.058;DP=255;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=0.349;SOR=0.791	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1126	6	0	1	0
chr1	99881109	99881109	A	G	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon15:c.A1933G:p.T645A,AGL:NM_000642:exon15:c.A1933G:p.T645A,AGL:NM_000643:exon15:c.A1933G:p.T645A,AGL:NM_000644:exon15:c.A1933G:p.T645A,AGL:NM_000646:exon15:c.A1885G:p.T629A	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	.	516123	Glycogen_storage_disease_type_III|not_provided	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.222	0.0158302128751	.	.	4.947e-05	0	8.687e-05	0	0	7.497e-05	0	0	7.12e-05	11	154602	rs576969969	5.063e-05	5.062e-05	4.357e-05	5.776e-05	0.0004	4.126e-05	3.779e-05	0.0002	0.0002	0	0.0004	0.0002	0	0	0.0003	2.968e-05	0.0001	0.0001	5.258e-05	5.254e-05	3.855e-05	6.726e-05	0.0002	2.558e-05	1.83e-05	5.287e-05	2.835e-05	0	0	0.0002	0.0003	0	0	0	4.41e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.04355	B	0.000001	0.62929	D	0.098546	0.928607	0.27116	N	-2.735	0.00029	N	-1.69	0.82985	D	3.15	0.00121	N	0.406	0.44952	-0.9495	0.41058	T	0.045	0.19437	T	10	0.06758392	0.09438	T	0.01583	0.36777	T	0.222	0.51872	0.602	0.73346	0.717622369731	0.71514	0.41927865779125334	0.41843	0.0405049159976	0.04339	0.355544745922	0.18736	T	0.085475	0.37509	T	-0.298889	0.08764	T	-0.350954	0.39097	T	0.0457085811075749	0.04731	T	0.80112	0.46793	T	0.05034634	0.09082	0.05491873	0.09536	0.05034634	0.09081	0.05491873	0.09536	2.418	0.00035	T	0.06861885834221801	0.02506	0.056	0.00470	B	.;.;.;.;.	.;.;.;.;.	1.372198	0.17825	13.39	0.13762743206219819	0.00282	0.52448	0.29134	D	AEFBI	0.065726	0.12835	N	-0.838138258941096	0.12343	0.6010989	-0.569308984161782	0.20295	1.092799	4.63100418470655E-4	0.07066	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	5.9	4.77	0.60425	4.555000	0.60477	4.634000	0.44128	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.220000	0.22462	0.7363:0.0:0.1366:0.1271	5.560	0.16421	856	0.34373	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.025862	0.000000	0.000000	0.08333	863.27	34	chr1	99881109	.	A	G	863.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.337;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.62;ReadPosRankSum=-0.389;SOR=0.54	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1496	5	0	1	1
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H,AGL:NM_000642:exon19:c.T2491C:p.Y831H,AGL:NM_000643:exon19:c.T2491C:p.Y831H,AGL:NM_000644:exon19:c.T2491C:p.Y831H,AGL:NM_000646:exon19:c.T2443C:p.Y815H	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1488844	Glycogen_storage_disease_type_III	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.00911862377621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.401e-06	7.43e-05	1.397e-06	1.405e-06	1.848e-06	2.3e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.848e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.473	0.12142	T	0.517	0.50474	P	0.109	0.47728	B	0.002293	0.36846	N	0.305907	0.99907	0.46009	D	2.045	0.56016	M	1.57	0.29342	T	-0.65	0.18877	N	0.272	0.33250	-1.1132	0.02809	T	0.049	0.20711	T	10	0.27782464	0.45351	T	0.009119	0.23988	T	0.081	0.23632	0.336	0.32491	0.479744053436	0.47606	0.606268470227836	0.60557	0.11555191635	0.13036	0.707347929478	0.68209	T	0.099441	0.40426	T	-0.125642	0.32204	T	-0.418252	0.31276	T	0.677078485488892	0.39656	D	0.937306	0.76420	D	0.20774648	0.42990	0.14135508	0.33665	0.20774648	0.42990	0.14135508	0.33664	-6.617	0.51183	T	0.20745740101029875	0.27728	0.195	0.49038	B	.;.;.;.;.	.;.;.;.;.	3.365396	0.46485	22.3	0.99621718597315734	0.75473	0.99680	0.98609	D	AEBI	0.860591	0.77848	D	0.379094507883598	0.60291	4.216405	0.481746564574198	0.66782	4.996979	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	7.619000	0.82253	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	146.48	25	chr1	99884396	.	T	C	146.48	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.272;DP=248;ExcessHet=0;FS=52.935;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.98;ReadPosRankSum=1.45;SOR=5.417	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1234:.	6	0	1	0
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T,AGL:NM_000642:exon19:c.T2495C:p.I832T,AGL:NM_000643:exon19:c.T2495C:p.I832T,AGL:NM_000644:exon19:c.T2495C:p.I832T,AGL:NM_000646:exon19:c.T2447C:p.I816T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0122640309764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	6.716e-05	1.374e-06	1.386e-06	9.081e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.026	0.56640	D	0.0	0.21573	B	0.001	0.24526	B	0.000055	0.53742	D	0.164392	0.996604	0.43303	D	0.75	0.19020	N	1.65	0.27650	T	-0.36	0.13035	N	0.436	0.50327	-1.0535	0.13440	T	0.016	0.06711	T	10	0.188252	0.34372	T	0.012264	0.30673	T	0.153	0.40148	0.481	0.56142	0.347438807231	0.34349	0.6957915828848406	0.69520	0.0479730424621	0.05229	0.57926928997	0.49983	T	0.024605	0.18561	T	-0.114689	0.33995	T	-0.402519	0.33091	T	0.689807772636414	0.40239	D	0.921208	0.71446	D	0.15030582	0.34224	0.15235546	0.35850	0.15030582	0.34224	0.15235546	0.35849	-7.468	0.57385	T	0.12742211284755814	0.13043	0.196	0.46493	B	.;.;.;.;.	.;.;.;.;.	3.585879	0.50577	23.0	0.98956683015017666	0.49246	0.98949	0.89045	D	AEFBI	0.617707	0.60379	D	-0.259290584713923	0.30734	1.716485	0.0117534508968653	0.40260	2.399848	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.882000	0.69458	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	287.47	26	chr1	99884400	.	T	C	287.47	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.099;DP=282;ExcessHet=0;FS=96.765;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.83;ReadPosRankSum=1.19;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:57:.:.:0,57,1229:.	6	0	1	0
chr1	100168491	100168491	C	T	exonic	LRRC39	.	nonsynonymous SNV	LRRC39:NM_001256387:exon2:c.G26A:p.G9E,LRRC39:NM_001256385:exon3:c.G26A:p.G9E,LRRC39:NM_001256386:exon3:c.G26A:p.G9E,LRRC39:NM_144620:exon3:c.G26A:p.G9E	.	441	1080	1	0	0	1	0.000462749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.0195110341708	.	.	3.3e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs762205610	1.235e-05	1.231e-05	8.187e-06	1.655e-05	0.0002	7.72e-06	6.37e-06	0.0001	8.759e-05	0	0	0	0	0	0.0002	0	3.318e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.51248	D	0.0	0.92824	D	0.994	0.90584	D	0.817	0.92359	P	0.003355	0.35069	N	0.131286	0.999996	0.58761	D	2.455	0.71248	M	8.17	0.00282	T	-1.62	0.41618	N	0.586	0.64223	0.794	0.94341	D	0.001	0.00287	T	10	0.68269247	0.71375	D	0.019511	0.41891	T	0.198	0.48105	0.577	0.70217	0.675998447366	0.67325	0.6097565768601507	0.60907	0.343176379673	0.36250	0.704313158989	0.67767	T	0.131997	0.46182	T	-0.233907	0.16135	T	-0.294333	0.45320	T	0.609702527523041	0.36788	D	0.80142	0.44736	T	0.23111828	0.45878	0.29924244	0.55958	0.23111828	0.45878	0.29924244	0.55957	-2.261	0.04522	T	.	.	0.307	0.54754	B	.;.;.;.	.;.;.;.	4.279300	0.65178	24.8	0.99774086589227418	0.86174	0.93594	0.58645	D	AEFI	0.637603	0.61632	D	0.589100506216965	0.72493	5.814574	0.622652228840572	0.76589	6.518853	0.995733115446836	0.34294	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.74	5.74	0.90070	5.351000	0.65790	5.948000	0.51598	0.599000	0.40250	0.983000	0.35670	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.707	0.88217	582	0.69555	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1129.44	33	chr1	100168491	.	C	T	1129.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.692;DP=288;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=1.34;SOR=0.693	GT:AD:DP:GQ:PL	0/1:50,56:106:99:1140,0,1074	6	0	1	0
chr1	103620666	103620666	A	C	exonic	AMY2A	.	nonsynonymous SNV	AMY2A:NM_000699:exon5:c.A860C:p.E287A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	0.0050	.	0.0046	0.0492	0.0027	0	0	2.557e-05	0	0.0001	0.0001153	3	26028	rs367982311	0.0008	0.0010	0.0009	0.0008	0.0301	0.0008	0.0008	0.0285	0.0279	0.0301	0.0019	0	0	0	0.0002	1.056e-05	0.0018	2.36e-05	0.0077	0.0087	0.0077	0.0076	0.0276	0.0073	0.0071	0.0261	0.0255	0.0276	0	0.0019	0	0	0	0	3.452e-05	0.0048	0	0.131	0.26629	T	0.243	0.24193	T	0.954	0.54400	P	0.771	0.56890	P	0.000000	0.84330	D	0.052416	0.999996	0.58761	D	2.53	0.73802	M	-4.82	0.98198	D	-2.33	0.51646	N	0.612	0.62950	-1.0823	0.06908	T	0.061	0.25346	T	10	0.01501146	0.00315	T	.	.	.	0.758	0.91753	.	.	0.949881530269	0.94935	0.39167391688679437	0.39082	3.3389385424	0.99635	0.54751855135	0.45507	T	0.591705	0.86784	D	0.193603	0.73296	D	0.040321	0.72949	D	0.0555522793102986	0.06450	T	0.963104	0.86259	D	0.48283094	0.66071	0.2510233	0.50705	0.48283094	0.66072	0.2510233	0.50704	-9.964	0.73696	D	.	.	0.432	0.61295	A	.;.	.;.	4.813635	0.78331	26.9	0.99376054518943591	0.61671	0.99144	0.91875	D	AEFI	0.926179	0.90688	D	0.0837762757036789	0.45708	2.822737	0.141518503851585	0.46695	2.911305	0.1658437066339	0.17663	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.13	3.13	0.35090	8.779000	0.91433	8.918000	0.78391	0.353000	0.19991	1.000000	0.71638	1.000000	0.68203	0.583000	0.30967	1.0:0.0:0.0:0.0	11.464	0.49473	796	0.45353	Glycosyl hydrolase, family 13, catalytic domain|Glycosyl hydrolase, family 13, catalytic domain;Glycosyl hydrolase, family 13, catalytic domain|Glycosyl hydrolase, family 13, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001923	0.000000	0.001381	0.009091	0.000000	0.000000	0.000000	0.000000	0.08333	55.27	11	chr1	103620666	.	A	C	55.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.892;DP=191;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=26.84;MQRankSum=0.578;QD=0.88;ReadPosRankSum=0.238;SOR=0.026	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	5	0	1	1
chr1	103624107	103624107	T	A	exonic	AMY2A	.	nonsynonymous SNV	AMY2A:NM_000699:exon9:c.T1232A:p.I411N	.	586	933	3	0	0	3	0.00160514	.	.	.	2733128	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.003	0.0112264755656	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1306702529	2.087e-05	5.679e-05	9.69e-06	3.217e-05	0.0002	1.481e-05	1.285e-05	0.0001	0.0001	3.017e-05	0	0	7.585e-05	0	0	8.195e-06	0	0.0002	6.722e-05	7.965e-05	7.204e-05	6.203e-05	0.0005	3.456e-05	2.584e-05	9.202e-05	3.764e-05	7.921e-05	0	0.0002	0	0	0	0	1.639e-05	0	0.0005	0.251	0.17069	T	0.475	0.12072	T	0.003	0.11197	B	0.006	0.12133	B	0.879549	0.07226	N	1.071200	1	0.08975	N	2.325	0.66631	M	.	.	.	-0.14	0.09135	N	0.226	0.26111	-1.0031	0.29021	T	0.030	0.13023	T	9	0.09776527	0.17631	T	0.011226	0.28641	T	0.003	0.00094	0.348	0.34436	0.259761712551	0.25597	0.25861674971472615	0.25775	2.68319369211	0.98530	0.538962006569	0.44298	T	0.064785	0.32523	T	-0.266242	0.12179	T	-0.620215	0.11168	T	0.0811656042076549	0.10136	T	0.49835	0.15517	T	0.06437519	0.13653	0.06055695	0.11552	0.06437519	0.13652	0.06055695	0.11552	-4.64	0.32670	T	.	.	0.105	0.19154	B	.;.	.;.	-0.403829	0.02198	0.218	0.35220081207938325	0.02198	0.04428	0.10023	N	AEI	0.144583	0.26758	N	-1.95303701263518	0.00266	0.01143036	-2.04804867769204	0.00241	0.01064786	7.2517517030974E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.94	-4.08	0.03696	-0.184000	0.09693	-4.700000	0.02027	-4.627000	0.00024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1238:0.2919:0.0:0.5843	6.019	0.18847	796	0.45353	Glycosyl hydrolase, family 13, catalytic domain;Glycosyl hydrolase, family 13, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	144.53	39	chr1	103624107	.	T	A	144.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.089;DP=352;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=26.65;MQRankSum=-7.791;QD=0.98;ReadPosRankSum=0.118;SOR=0.026	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1420	6	0	1	0
chr1	108699670	108699670	A	G	exonic	PRPF38B	.	nonsynonymous SNV	PRPF38B:NM_001349762:exon6:c.A856G:p.R286G,PRPF38B:NM_001349764:exon6:c.A745G:p.R249G,PRPF38B:NM_001349765:exon6:c.A745G:p.R249G,PRPF38B:NM_018061:exon6:c.A1291G:p.R431G,PRPF38B:NM_001349757:exon7:c.A958G:p.R320G,PRPF38B:NM_001349759:exon7:c.A739G:p.R247G,PRPF38B:NM_001349761:exon7:c.A856G:p.R286G,PRPF38B:NM_001349763:exon7:c.A745G:p.R249G,PRPF38B:NM_001349766:exon7:c.A700G:p.R234G,PRPF38B:NM_001349768:exon7:c.A700G:p.R234G,PRPF38B:NM_001349771:exon7:c.A700G:p.R234G,PRPF38B:NM_001349758:exon8:c.A739G:p.R247G,PRPF38B:NM_001349767:exon8:c.A700G:p.R234G,PRPF38B:NM_001349769:exon8:c.A700G:p.R234G,PRPF38B:NM_001349770:exon8:c.A700G:p.R234G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.0094976611034	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1333090797	2.789e-06	2.736e-06	2.766e-06	2.812e-06	3.643e-06	6.5e-07	4.4e-07	8.5e-07	5.8e-07	0	0	0	0	0	0	3.643e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.012	0.63918	D	0.608	0.39540	P	0.109	0.31370	B	0.000000	0.84330	D	0.047799	0.999546	0.47497	D	1.445	0.36358	L	1.54	0.30133	T	-1.19	0.30964	N	0.465	0.50146	-1.0824	0.06890	T	0.025	0.10509	T	10	0.18542674	0.33963	T	0.009498	0.24878	T	0.126	0.34673	0.233	0.16155	0.102598925029	0.09809	0.13584877619433222	0.13508	0.324506436646	0.34611	0.773700296879	0.77978	T	0.027396	0.20072	T	-0.0897604	0.38117	T	-0.366711	0.37273	T	0.471783941756418	0.31596	T	0.893911	0.63238	D	0.29834154	0.52756	0.25666067	0.51369	0.29834154	0.52756	0.25666067	0.51368	-5.989	0.46188	T	.	.	0.376	0.67727	A	.;.	.;.	3.697066	0.52706	23.3	0.9890052504588045	0.48181	0.96070	0.67396	D	AEFDBCI	0.837058	0.75474	D	0.124879219480205	0.47625	2.985627	0.27487959654311	0.54075	3.573829	0.999999418026947	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	4.702000	0.61504	5.331000	0.48318	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8636:0.1363:0.0:0.0	12.778	0.56838	800	0.44535	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	426.53	31	chr1	108699670	.	A	G	426.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.63;DP=191;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=-1.132;SOR=0.558	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1132	6	0	1	0
chr1	108830631	108830631	G	A	exonic	AKNAD1	.	nonsynonymous SNV	AKNAD1:NM_152763:exon10:c.C1766T:p.P589L	.	432	1084	6	0	0	6	0.00275989	.	.	.	3270529	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.038	0.00281259760208	.	0.000199681	2.473e-05	0	0	0	0	4.498e-05	0	0	2.59e-05	4	154602	rs544090925	6.157e-05	6.156e-05	6.534e-05	5.776e-05	0.0097	5.095e-05	4.715e-05	0.0077	0.0069	2.987e-05	4.472e-05	0	0	0	0.0097	1.079e-05	0.0002	5.797e-05	9.192e-05	9.186e-05	7.709e-05	0.0001	0.0005	5.524e-05	4.361e-05	0.0002	0.0002	0	0	0.0005	0	0	0	0.0068	4.409e-05	0.0005	0.0002	0.098	0.51248	T	0.135	0.39645	T	0.0	0.02946	B	0.001	0.04355	B	0.261313	0.03711	N	1.576760	1	0.08975	N	0	0.06538	N	3.13	0.09356	T	-0.62	0.38540	N	0.105	0.17691	-0.9662	0.37974	T	0.011	0.04181	T	10	0.03834945	0.02247	T	0.002813	0.05869	T	0.038	0.09825	0.098	0.01383	0.0611884634855	0.05136	0.0987826598328918	0.09809	0.0271512324795	0.02775	0.256449729204	0.04477	T	0.003107	0.02504	T	-0.449691	0.01134	T	-0.776069	0.02574	T	0.0148241505744961	0.00312	T	0.649435	0.26018	T	0.023517301	0.01098	0.032161623	0.01911	0.023517301	0.01097	0.032161623	0.01911	-3.28	0.14378	T	.	.	0.076	0.12844	B	.;.;.	.;.;.	0.709971	0.10788	7.473	0.97043330843470144	0.32121	0.00946	0.03649	N	ALL	0.051654	0.09146	N	-1.13319259960056	0.06061	0.2780069	-1.16249738013427	0.06546	0.3154459	1.0	0.98316	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.273489	0.05413	2	.	.	4.05	0.975	0.18841	0.376000	0.20265	-0.548000	0.08544	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1048:0.3376:0.5576:0.0	6.165	0.19600	858	0.34001	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.000000	0.020468	0.000000	0.017241	0.000000	0.000000	0.07143	105.44	36	chr1	108830631	.	G	A	105.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.803;DP=213;ExcessHet=0;FS=7.068;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=0.992;SOR=0.61	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1055	6	0	1	0
chr1	108929705	108929705	C	T	exonic	GPSM2	.	nonsynonymous SNV	GPSM2:NM_001321038:exon15:c.C1820T:p.S607F,GPSM2:NM_001321039:exon15:c.C1820T:p.S607F,GPSM2:NM_013296:exon15:c.C1820T:p.S607F	Chudley-McCullough syndrome, Autosomal recessive	10	1509	2	1	0	4	0.00132363	.	.	.	172329	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.836	.	0.0087	0.0071885	0.0023	0.0268	0.0007	0	0	1.515e-05	0	6.095e-05	0.0022833	353	154602	rs35322815	0.0008	0.0008	0.0009	0.0006	0.0261	0.0007	0.0007	0.0246	0.0241	0.0261	0.0012	0	0	0	0.0009	3.15e-05	0.0020	0.0001	0.0072	0.0073	0.0079	0.0066	0.0252	0.0069	0.0067	0.0239	0.0234	0.0252	0	0.0024	0	0	0	0	4.41e-05	0.0085	0	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.983	0.75793	D	0.000000	0.84330	D	0.053767	1	0.81001	D	3.175	0.88760	M	-3.52	0.94729	D	-4.72	0.79998	D	0.812	0.80767	1.014	0.97432	D	0.917	0.97240	D	10	0.018236428	0.00395	T	.	.	.	0.836	0.94840	.	.	0.993241518062	0.99316	0.3861258562932512	0.38527	0.924097085248	0.71571	0.616739332676	0.55268	T	0.624171	0.88264	D	-0.112055	0.34428	T	0.0858606	0.75969	D	0.0278651169423726	0.01668	T	0.987501	0.95747	D	0.8415192	0.86717	0.8512265	0.91585	0.88296306	0.89914	0.82289207	0.89725	-11.767	0.83697	D	0.4525350452496373	0.53610	0.350	0.57486	A	.;.;.	.;.;.	4.760525	0.76968	26.6	0.9978482479902383	0.87131	0.99057	0.90596	D	AEFBI	0.871912	0.79352	D	0.928112828802992	0.93067	11.80099	0.896342888548824	0.95412	13.59639	0.99999999812227	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.79	5.79	0.91751	7.568000	0.81546	7.664000	0.64404	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	19.637	0.95731	861	0.33516	GoLoco motif|GoLoco motif|GoLoco motif;GoLoco motif|GoLoco motif|GoLoco motif;GoLoco motif|GoLoco motif|GoLoco motif	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003027	0.000000	0.006793	0.000000	0.000000	0.000000	0.003086	0.000000	0.07143	858.83	34	chr1	108929705	.	C	T	858.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.091;DP=230;ExcessHet=0;FS=5.528;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.84;ReadPosRankSum=3.12;SOR=0.163	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	6	0	1	0
chr1	109002314	109002314	T	C	exonic	WDR47	.	nonsynonymous SNV	WDR47:NM_001142550:exon7:c.A1367G:p.Q456R,WDR47:NM_001142551:exon7:c.A1343G:p.Q448R,WDR47:NM_014969:exon7:c.A1346G:p.Q449R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.0167785656538	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400118891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.038	0.51421	D	0.651	0.40707	P	0.084	0.35248	B	0.000004	0.62929	D	0.062472	0.995762	0.45735	D	2.045	0.56016	M	0.39	0.57419	T	-0.91	0.24898	N	0.584	0.60495	-1.1052	0.03517	T	0.047	0.20116	T	10	0.30706525	0.48212	T	0.016779	0.38196	T	0.178	0.44724	0.307	0.27806	0.204265027416	0.20035	0.4340355192986864	0.43320	0.95220496257	0.72685	0.78901553154	0.80292	T	0.044472	0.26826	T	0.0105779	0.53103	T	-0.222582	0.52488	T	0.932683229446411	0.59891	D	0.960504	0.85148	D	0.25288716	0.48307	0.30775508	0.56796	0.25288716	0.48307	0.30775508	0.56795	-3.198	0.12456	T	.	.	0.199	0.59584	B	.;.;.;.;.	.;.;.;.;.	4.049741	0.60023	24.2	0.99673062148681291	0.78717	0.97342	0.74144	D	AEFDBI	0.814251	0.73652	D	0.0167267406948553	0.42615	2.571109	0.128922204859954	0.46036	2.856217	0.0819860699239755	0.15888	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.99	3.83	0.43287	7.149000	0.76985	7.894000	0.73204	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1405:0.0:0.0:0.8595	10.950	0.46538	861	0.33516	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr1	109002314	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=195;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,995	6	1	0	0
chr1	109194458	109194458	G	A	exonic	ELAPOR1	.	nonsynonymous SNV	ELAPOR1:NM_001284353:exon8:c.G971A:p.R324H,ELAPOR1:NM_001267048:exon13:c.G1724A:p.R575H,ELAPOR1:NM_001284352:exon14:c.G1679A:p.R560H,ELAPOR1:NM_020775:exon15:c.G1985A:p.R662H	.	408	1111	3	0	0	3	0.00134831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0102094717447	.	.	2.471e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs768245171	5.474e-05	5.473e-05	3.676e-05	7.289e-05	0.0004	4.478e-05	4.148e-05	0.0003	0.0002	0	8.944e-05	0	0	1.873e-05	0	3.688e-05	4.968e-05	0.0004	6.575e-05	6.568e-05	6.426e-05	6.731e-05	0.0006	3.519e-05	2.618e-05	0.0002	8.985e-05	2.415e-05	0	6.547e-05	0	0	0	0	7.351e-05	0	0.0006	0.58	0.06223	T	0.59	0.08217	T	0.584	0.45366	P	0.241	0.41006	B	0.022178	0.26687	N	0.403992	1	0.08975	N	0.06	0.08197	N	2.77	0.13795	T	1.03	0.01350	N	0.1	0.08227	-0.9997	0.30002	T	0.004	0.01159	T	10	0.03201759	0.01346	T	0.010209	0.26478	T	0.061	0.17616	0.438	0.49157	0.173771789658	0.16945	0.3252068622827423	0.32433	0.361551916718	0.37809	0.212208271027	0.00909	T	0.009828	0.08919	T	-0.491432	0.00638	T	-0.627529	0.10602	T	0.0377370507034824	0.03285	T	0.738026	0.36682	T	0.02104744	0.00688	0.028921967	0.01176	0.02104744	0.00688	0.028921967	0.01176	-2.979	0.09956	T	.	.	0.073	0.06341	B	.;.;.	.;.;.	0.992446	0.13703	10.25	0.61125385923847242	0.06631	0.14425	0.18396	N	AEFDGBIJ	0.278885	0.39306	N	-0.698663239571345	0.16059	0.8149162	-0.650058393326532	0.18215	0.9720795	0.999999168739863	0.74766	0.656854	0.48797	0	0.547309	0.14657	0	0.67347	0.61138	0	0.600164	0.37192	1	.	.	5.68	3.58	0.40133	0.805000	0.26772	1.331000	0.25669	0.618000	0.50648	0.000000	0.06391	0.002000	0.18203	0.699000	0.34110	0.0:0.108:0.3138:0.5782	6.194	0.19752	673	0.60677	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1356.44	82	chr1	109194458	.	G	A	1356.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.06;DP=680;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.87;ReadPosRankSum=0.063;SOR=0.703	GT:AD:DP:GQ:PL	0/1:92,61:153:99:1367,0,2036	6	0	1	0
chr1	109266137	109266137	G	A	exonic	CELSR2	.	nonsynonymous SNV	CELSR2:NM_001408:exon15:c.G5944A:p.A1982T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.0520591968808	.	.	8.257e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs752119946	4.789e-06	4.788e-06	4.084e-06	5.501e-06	4.472e-05	1.99e-06	1.28e-06	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	2.698e-06	3.311e-05	0	1.971e-05	1.97e-05	1.285e-05	2.69e-05	0.0002	5.24e-06	2.45e-06	5.285e-05	2.835e-05	0	0	0.0002	0	0	0	0	0	0	0	0.023	0.48186	D	0.008	0.67890	D	0.98	0.59353	D	0.851	0.60700	P	.	.	.	.	1	0.81001	D	2.64	0.77224	M	-0.35	0.68616	T	-2.19	0.49352	N	0.758	0.75650	-0.2194	0.77167	T	0.395	0.74793	T	9	0.6759528	0.70992	D	0.052059	0.64915	D	0.387	0.70358	0.562	0.68229	0.683234361809	0.68053	0.5218924882670097	0.52112	1.07742525153	0.77023	0.741327047348	0.73168	T	0.249503	0.61947	T	0.0777749	0.61778	D	-0.0431929	0.67486	D	0.765989863585337	0.44201	D	0.89791	0.64303	D	0.13508305	0.31363	0.21084028	0.45487	0.13508305	0.31363	0.21084028	0.45486	-8.16	0.62155	D	0.3822524979993107	0.47652	0.188	0.40586	B	.	.	4.684015	0.74992	26.3	0.99927267662097252	0.99163	0.99044	0.90407	D	AEFBI	0.713356	0.66619	D	0.651685800930348	0.76479	6.493932	0.594758322497304	0.74561	6.158366	0.999999999999994	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.562822	0.20929	0	.	.	4.6	4.6	0.56512	6.588000	0.73964	9.870000	0.82121	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	17.607	0.87943	792	0.45996	GPCR, family 2, extracellular hormone receptor domain|GPCR, family 2, extracellular hormone receptor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	463.44	38	chr1	109266137	.	G	A	463.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.189;DP=229;ExcessHet=0;FS=2.873;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.614;SOR=1.014	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1243	6	0	1	0
chr1	109508616	109508616	G	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.C297G:p.N99K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00471979587979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.402e-05	0.0008	2.459e-05	2.345e-05	0.0002	1.744e-05	1.544e-05	2.006e-05	1.747e-05	5.989e-05	0	0	0	0	0.0002	2.799e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.096	0.39340	T	0.375	0.34209	B	0.25	0.39011	B	0.023848	0.26367	N	0.283710	0.989351	0.40936	D	-0.805	0.01590	N	4.38	0.02255	T	-0.42	0.14193	N	0.251	0.32481	-0.9074	0.47168	T	0.002	0.00526	T	10	0.13895068	0.26423	T	0.00472	0.11753	T	0.048	0.13305	0.424	0.46857	0.303871581278	0.30001	0.3848348631254194	0.38398	1.20472787136	0.80666	0.608450233936	0.54097	T	0.010575	0.09538	T	-0.290714	0.09565	T	-0.655367	0.08582	T	0.544324159622192	0.34265	D	0.79742	0.44137	T	0.08433104	0.19514	0.09508742	0.22536	0.08433104	0.19513	0.09508742	0.22536	-4.691	0.33295	T	.	.	0.266	0.50527	B	.;.	.;.	1.875938	0.23830	16.17	0.98865697297219557	0.47545	0.82763	0.41947	D	AEFBCI	0.391245	0.46976	N	-0.506877925592794	0.21857	1.163021	-0.39326206815582	0.25196	1.384239	0.905472008325259	0.26205	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	1.09	0.19517	1.118000	0.30860	3.404000	0.38147	0.676000	0.76740	0.809000	0.29839	1.000000	0.68203	1.000000	0.97212	0.304:0.0:0.696:0.0	9.065	0.35621	615	0.66512	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	930.75	58	chr1	109508616	.	G	C	930.75	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.655;DP=441;ExcessHet=1.383;FS=300.261;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=3.62;ReadPosRankSum=-0.012;SOR=8.497	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,48:116:99:0|1:109508616_G_C:652,0,1525:109508616	2	0	3	2
chr1	109508617	109508617	T	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.A296G:p.N99S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.00377047473703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	0.0002	2.726e-06	1.377e-06	2.702e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.798	0.03134	T	1.0	0.01155	T	0.001	0.07471	B	0.005	0.11217	B	0.023848	0.26367	N	0.283710	0.744098	0.29705	N	-1.225	0.00812	N	4.52	0.01997	T	0.92	0.01573	N	0.044	0.04072	-0.9142	0.46325	T	0.001	0.00318	T	10	0.027937263	0.00931	T	0.00377	0.08775	T	0.152	0.39956	0.237	0.16760	0.21174354426	0.20776	0.18114392568070153	0.18033	0.765883629124	0.64500	0.483428955078	0.36529	T	0.005866	0.05316	T	-0.395562	0.02475	T	-0.805974	0.01758	T	0.0602567331267085	0.07209	T	0.826617	0.49005	T	0.038544018	0.05153	0.047732275	0.06941	0.038544018	0.05153	0.047732275	0.06940	-0.373	0.00511	T	.	.	0.064	0.01884	B	.;.	.;.	1.840698	0.23383	16.00	0.57174240635056761	0.05711	0.18455	0.20267	N	AEFBCI	0.212306	0.33801	N	-0.740697034335553	0.14888	0.7454824	-0.519573181039383	0.21622	1.170563	0.989457814758624	0.31831	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	4.99	0.65942	-0.133000	0.10430	2.868000	0.35247	0.665000	0.62972	0.001000	0.13787	1.000000	0.68203	1.000000	0.97212	0.0:0.0899:0.1832:0.7269	5.179	0.14477	615	0.66512	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	284.78	59	chr1	109508617	.	T	C	284.78	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.04;DP=370;ExcessHet=1.383;FS=185.939;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=0.414;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,28:122:12:0|1:109508616_G_C:12,0,2535:109508616	3	0	3	1
chr1	109508618	109508618	T	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.A295G:p.N99D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00431994233541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.43e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.098	0.39040	T	0.046	0.21875	B	0.204	0.37039	B	0.023848	0.26367	N	0.283710	0.837229	0.28680	N	-0.135	0.04517	N	4.32	0.02387	T	-0.65	0.18877	N	0.264	0.35301	-0.9012	0.47868	T	0.003	0.00832	T	10	0.09139174	0.16007	T	0.00432	0.10498	T	0.050	0.13987	0.302	0.27003	0.35421846163	0.35036	0.42623265837729346	0.42540	1.16636633486	0.79636	0.593713998795	0.52018	T	0.016495	0.13623	T	-0.33	0.06112	T	-0.711798	0.05203	T	0.54811829328537	0.34407	D	0.660634	0.26999	T	0.10292237	0.24323	0.1119965	0.27018	0.10292237	0.24322	0.1119965	0.27018	-2.193	0.04007	T	.	.	0.145	0.32079	B	.;.	.;.	1.909142	0.24245	16.33	0.98833880806686136	0.47002	0.33936	0.24948	N	AEFBCI	0.215332	0.34070	N	-0.58773012198282	0.19317	1.009999	-0.480569429772215	0.22688	1.233631	0.896117992834435	0.25970	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	2.58	0.30011	-0.458000	0.06813	0.851000	0.22138	0.665000	0.62972	0.000000	0.06391	1.000000	0.68203	1.000000	0.97212	0.1294:0.0:0.2917:0.5789	6.884	0.23373	615	0.66512	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	271.9	60	chr1	109508618	.	T	C	271.9	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.733;DP=288;ExcessHet=0.4139;FS=84.419;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.9;ReadPosRankSum=0.787;SOR=6.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,99,1485:.	4	0	2	1
chr1	109717382	109717382	C	T	exonic	GSTM5	.	stopgain	GSTM5:NM_000851:exon8:c.C613T:p.R205X	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000798722	0.0004	0	0.0004	0.0015	0	0.0003	0.0011	6.056e-05	0.0003428	53	154602	rs181150599	0.0001	0.0001	0.0002	0.0001	0.0013	0.0001	0.0001	0.0010	0.0009	2.987e-05	0.0003	0.0012	0.0013	0	0.0010	6.925e-05	0.0004	8.116e-05	0.0002	0.0002	0.0002	0.0003	0.0017	0.0002	0.0002	0.0009	0.0007	0.0002	0	0.0001	0.0009	0.0017	0	0.0102	0.0002	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.018214	0.27535	U	0.269330	0.865653	0.38394	D	.	.	.	.	.	.	.	.	.	0.371	0.43126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0499129	0.58332	T	0.268841	0.86509	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	6.054662	0.94449	34	0.73518488235504231	0.10357	0.12005	0.17000	N	AEFDBI	0.094279	0.19065	N	-0.0578755537773104	0.39250	2.311686	-0.470276596555243	0.22978	1.250726	0.999937884493131	0.46732	0.516011	0.20929	0	0.588066	0.40923	0	0.577349	0.28860	0	0.613276	0.41899	0	.	.	5.42	-3.8	0.04025	0.069000	0.14419	-1.599000	0.05088	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4561:0.2822:0.1123:0.1494	2.460	0.04262	629	0.65079	Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.009511	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	141.44	34	chr1	109717382	.	C	T	141.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.15;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.68;ReadPosRankSum=0.566;SOR=0.799	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1338	6	0	1	0
chr1	110222977	110222977	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C692G:p.A231G,KCNC4:NM_001377330:exon2:c.C692G:p.A231G,KCNC4:NM_004978:exon2:c.C692G:p.A231G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.0722916072849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0034	0.0008	0.0006	0.0008	0.0007	0.0006	0.0008	0.0008	0.0008	0	0.0003	0.0002	1.877e-05	0.0002	0.0008	0.0008	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.315	0.21144	T	0.051	0.42493	B	0.157	0.41053	B	0.000921	0.41028	D	0.275191	0.99437	0.42258	D	2.415	0.69758	M	-4.19	0.96908	D	-2.8	0.59226	D	0.438	0.47672	0.589	0.91750	D	0.723	0.90514	D	10	0.35339242	0.52146	T	0.072292	0.71493	D	0.456	0.75483	0.363	0.36874	0.993177892102	0.99310	0.7526387987383419	0.75210	1.08132311467	0.77145	0.672360956669	0.63174	T	0.667086	0.90076	D	0.175355	0.71615	D	0.0141088	0.71248	D	0.842766284942627	0.49555	D	0.923008	0.74652	D	0.2548791	0.48519	0.22605044	0.47570	0.2548791	0.48519	0.22605044	0.47569	-8.263	0.63102	D	.	.	0.237	0.47944	B	.;.;.	.;.;.	3.598856	0.50823	23.0	0.99047415397653182	0.51162	0.96210	0.68040	D	AEFDGBI	0.477094	0.52023	N	0.0886515093145786	0.45935	2.841749	0.218624017239798	0.50879	3.275622	0.993656479131254	0.33302	0.651	0.46895	0	0.588066	0.40923	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.88	4.88	0.63131	2.965000	0.48892	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9187:0.0:0.0813	11.857	0.51719	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	191.13	70	chr1	110222977	.	C	G	191.13	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.354;DP=601;ExcessHet=0.4139;FS=121.961;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.21;ReadPosRankSum=2.62;SOR=7.512	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:115,12:127:9:0|1:110222977_C_G:0,9,4631:110222977	2	0	2	3
chr1	110222980	110222980	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C695G:p.S232C,KCNC4:NM_001377330:exon2:c.C695G:p.S232C,KCNC4:NM_004978:exon2:c.C695G:p.S232C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.929	0.40933610176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.636e-05	0.0009	7.295e-05	5.971e-05	8.013e-05	5.553e-05	5.161e-05	6.603e-05	6.157e-05	3.015e-05	0	0	2.525e-05	0	0	8.013e-05	6.68e-05	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.992	0.90584	D	0.945	0.73362	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.905	0.96153	H	-4.48	0.97606	D	-4.53	0.78388	D	0.831	0.82660	1.099	0.99607	D	0.949	0.98331	D	10	0.8837731	0.87697	D	0.409336	0.93564	D	0.929	0.98304	0.653	0.79068	0.998239969463	0.99822	0.9428938060723817	0.94271	2.16590570783	0.95413	0.900061309338	0.96447	D	0.865354	0.97046	D	0.507574	0.94527	D	0.491319	0.94446	D	0.996615469455719	0.89714	D	0.968103	0.88413	D	0.81521255	0.84899	0.67973554	0.81184	0.81521255	0.84900	0.67973554	0.81185	-14.23	0.93792	D	.	.	0.990	0.93569	P	.;.;.	.;.;.	5.345809	0.89688	31	0.99023122748486747	0.50634	0.99055	0.90567	D	AEFDGBI	0.873031	0.79518	D	0.820546623686913	0.87372	9.195578	0.766985295263051	0.87421	9.215925	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	7.905000	0.86479	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	149.26	91	chr1	110222980	.	C	G	149.26	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.516;DP=553;ExcessHet=0;FS=78.615;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.76;ReadPosRankSum=2.78;SOR=6.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:120,11:132:43:.:.:0,43,4815:.	5	0	1	1
chr1	110222982	110222982	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C697G:p.L233V,KCNC4:NM_001377330:exon2:c.C697G:p.L233V,KCNC4:NM_004978:exon2:c.C697G:p.L233V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597	0.146920177704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	0.11919	T	0.578	0.10643	T	0.008	0.27402	B	0.057	0.26280	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.105	0.28596	L	-4.42	0.97469	D	-1.47	0.35991	N	0.715	0.71765	0.475	0.90190	D	0.781	0.92551	D	10	0.67977595	0.71209	D	0.14692	0.82899	D	0.597	0.84019	0.507	0.60232	0.970349058238	0.97003	0.7767111040505488	0.77621	2.1969115238	0.95663	0.860170543194	0.91136	D	0.382192	0.74433	T	0.19509	0.73434	D	0.0424575	0.73088	D	0.898567736148834	0.55069	D	0.959204	0.87416	D	0.3946045	0.60357	0.26400998	0.52214	0.3946045	0.60357	0.26400998	0.52213	-7.933	0.60613	D	.	.	0.865	0.82233	P	.;.;.	.;.;.	3.881184	0.56413	23.7	0.97300471871801075	0.33275	0.99055	0.90567	D	AEFDGBI	0.882603	0.81085	D	-0.0424401364828146	0.39940	2.363618	0.150967903423767	0.47194	2.953265	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	6.148000	0.71557	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	133.22	78	chr1	110222982	.	C	G	133.22	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.234;DP=557;ExcessHet=0;FS=76.089;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.56;ReadPosRankSum=2.72;SOR=6.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:120,0:132:99:0|1:110222977_C_G:0,361,5150:110222977	5	0	1	1
chr1	110341408	110341408	C	T	exonic	RBM15	.	nonsynonymous SNV	RBM15:NM_001201545:exon1:c.C2003T:p.A668V,RBM15:NM_022768:exon1:c.C2003T:p.A668V	Megakaryoblastic leukemia, acute	422	1039	57	4	0	65	0.0303313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0048	0.00559105	0.0061	0.0010	0.0040	0	0.0030	0.0067	0.0077	0.0129	0.0059572	921	154602	rs150900331	0.0060	0.0060	0.0056	0.0064	0.0229	0.0059	0.0058	0.0197	0.0185	0.0011	0.0042	0.0147	0	0.0034	0.0229	0.0056	0.0073	0.0127	0.0051	0.0051	0.0049	0.0052	0.0137	0.0048	0.0046	0.0110	0.0101	0.0009	0.0033	0.0054	0.0124	0.0002	0.0031	0.0238	0.0071	0.0076	0.0137	0.117	0.28271	T	0.312	0.19599	T	0.0	0.02946	B	0.0	0.01387	B	0.494839	0.12016	N	0.710757	1	0.08975	N	0.345	0.11182	N	2.2	0.18570	T	-1.7	0.40468	N	0.055	0.03175	-0.9287	0.44328	T	0.009	0.03227	T	10	0.0030899048	0.00051	T	.	.	.	0.027	0.05988	.	.	0.117191471859	0.11215	0.2182879860972043	0.21744	0.713490700197	0.61819	0.405892670155	0.25888	T	0.297953	0.67053	T	-0.665341	0.00058	T	-0.717462	0.04919	T	0.00200101687308719	0.00021	T	0.679332	0.28809	T	0.04694136	0.07941	0.08194425	0.18665	0.04694136	0.07941	0.08194425	0.18664	-4.584	0.32322	T	.	.	0.073	0.08272	B	.;.;.;.;.	.;.;.;.;.	1.796698	0.22840	15.78	0.95988238114539981	0.28380	0.33658	0.24881	N	ALL	0.181846	0.30916	N	-1.0320615013265	0.07945	0.3707962	-0.968512324056755	0.10497	0.529055	0.999999987827702	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.662433	0.64102	0	.	.	4.87	0.956	0.18731	0.682000	0.25015	0.428000	0.18294	-0.182000	0.10109	0.001000	0.13787	0.031000	0.21272	0.986000	0.61781	0.0:0.6211:0.0:0.3789	8.347	0.31441	872	0.31118	.;.;.;.;.	LAMTOR5	Skin_Not_Sun_Exposed_Suprapubic	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.022155	0.015152	0.021739	0.008772	0.150000	0.025862	0.024390	0.026515	0.2143	4546.05	106	chr1	110341408	.	C	T	4546.05	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.583;DP=526;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-0.839;SOR=0.704	GT:AD:DP:GQ:PL	0/1:65,62:127:99:1655,0,1703	4	0	3	0
chr1	110451232	110451232	C	T	exonic	PROK1	.	stopgain	PROK1:NM_032414:exon1:c.C16T:p.R6X	.	412	1108	2	0	0	2	0.000901713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000199681	8.238e-05	0.0004	0.0003	0	0	4.495e-05	0	0	7.76e-05	12	154602	rs187548600	5.609e-05	5.678e-05	6.126e-05	5.088e-05	0.0003	4.61e-05	4.236e-05	0.0002	0.0002	0.0002	0.0003	0	0	0	0.0002	3.957e-05	0.0002	0	0.0002	0.0002	0.0001	0.0003	0.0010	0.0001	0.0001	0.0007	0.0005	0.0002	0	0.0010	0	0	0	0	4.411e-05	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	0.600221	0.05642	N	1.205260	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.273	0.30914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166258	0.70779	D	0.280476	0.87149	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	6.178003	0.94733	34	0.99531691924212806	0.69901	0.07013	0.13040	N	AEFDGBI	0.051670	0.09152	N	0.171931065197097	0.49854	3.181335	-0.140985303755173	0.33756	1.934366	0.991178699986803	0.32398	0.446893	0.09132	0	0.563428	0.19063	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	5.67	3.74	0.42108	0.581000	0.23520	0.117000	0.14863	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.174000	0.21107	0.3189:0.6811:0.0:0.0	11.329	0.48703	860	0.33753	Prokineticin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	175.44	34	chr1	110451232	.	C	T	175.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.15;DP=229;ExcessHet=0;FS=2.276;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.564;SOR=0.959	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	6	0	1	0
chr1	110949885	110949885	G	C	exonic	LRIF1	.	nonsynonymous SNV	LRIF1:NM_001006945:exon2:c.C227G:p.T76R,LRIF1:NM_018372:exon3:c.C1835G:p.T612R	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0209892720318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.447	0.36101	T	0.078	0.37927	B	0.118	0.41660	B	0.325441	0.14201	N	0.673920	1	0.08975	N	2.08	0.57402	M	1.91	0.31470	T	-1.22	0.41618	N	0.194	0.29081	-1.0451	0.15796	T	0.034	0.14813	T	10	0.08899155	0.15375	T	0.020989	0.43686	T	0.042	0.11227	0.147	0.05039	0.510758216515	0.50715	0.18596798790837074	0.18514	0.392744924576	0.40454	0.373809695244	0.21377	T	0.047302	0.27682	T	-0.186225	0.22814	T	-0.505276	0.21801	T	0.296376117410699	0.24854	T	0.735226	0.35154	T	0.07448203	0.16716	0.09102388	0.21379	0.07448203	0.16716	0.09102388	0.21379	-4.48	0.30626	T	0.21689145730599693	0.29182	0.106	0.24934	B	.;.;.	.;.;.	2.084065	0.26508	17.14	0.97828875922411263	0.36246	0.29413	0.23815	N	AEFGBI	0.119995	0.23396	N	-0.387048147501053	0.25930	1.411299	-0.408242646252422	0.24755	1.357	0.177658675517435	0.17826	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.69	3.77	0.42499	2.389000	0.44060	6.609000	0.56081	0.656000	0.54149	0.073000	0.22155	0.999000	0.35428	0.980000	0.58198	0.086:0.0:0.7477:0.1664	7.287	0.25520	625	0.65529	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1316.44	33	chr1	110949885	.	G	C	1316.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.298;DP=305;ExcessHet=0;FS=4.66;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-0.917;SOR=0.389	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1257	6	0	1	0
chr1	111477654	111477654	G	A	exonic	C1orf162	.	nonsynonymous SNV	C1orf162:NM_001300835:exon4:c.G119A:p.R40Q,C1orf162:NM_174896:exon5:c.G206A:p.R69Q	.	423	1095	4	0	0	4	0.00182315	.	.	.	2375485	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.00653380084581	0.0002	.	0.0005	0	0.0006	0	0	0.0005	0.0022	0.0007	0.0003881	60	154602	rs371937009	0.0003	0.0003	0.0002	0.0003	0.0070	0.0002	0.0002	0.0053	0.0047	6.156e-05	0.0005	0.0015	2.695e-05	0	0.0070	0.0002	0.0005	0.0005	0.0003	0.0003	0.0002	0.0004	0.0011	0.0002	0.0002	0.0007	0.0005	5.461e-05	0	0.0011	0.0012	0	0	0	0.0003	0.0021	0.0002	0.038	0.42783	D	0.387	0.15650	T	0.005	0.12996	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.5	0.55608	T	-1.03	0.27052	N	0.104	0.08786	-1.0124	0.26165	T	0.026	0.11176	T	9	0.008251041	0.00187	T	0.006534	0.17215	T	0.019	0.03383	.	.	0.0482279557977	0.04254	0.059782277741769585	0.05918	0.21243972254	0.23743	.	.	.	0.005925	0.05364	T	-0.539092	0.00339	T	-0.644552	0.09340	T	0.00706290577497173	0.00080	T	0.389261	0.09643	T	0.03938431	0.05427	0.048426673	0.07190	0.03938431	0.05427	0.048426673	0.07190	-3.658	0.18700	T	.	.	0.100	0.16973	B	.	.	0.162320	0.05527	1.988	0.93298694333692944	0.23009	0.01699	0.05405	N	AEFDBI	0.058359	0.10943	N	-1.11786240616527	0.06325	0.2908614	-1.14919607702632	0.06782	0.3276431	0.999627337288244	0.41093	0.600919	0.35232	0	0.596877	0.49441	0	0.624306	0.44879	0	0.613276	0.41899	0	.	.	4.27	-0.936	0.09889	-0.328000	0.07988	1.466000	0.26718	-0.104000	0.15758	0.000000	0.06391	0.007000	0.19602	0.038000	0.14061	0.4141:0.1742:0.4116:0.0	4.097	0.09470	651	0.62880	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.010101	0.006793	0.011696	0.000000	0.008621	0.003049	0.000000	0.07143	59.44	35	chr1	111477654	.	G	A	59.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.38;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=0.674;SOR=0.105	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,115,1470	6	0	1	0
chr1	111760793	111760793	G	C	exonic	DDX20	.	nonsynonymous SNV	DDX20:NM_007204:exon5:c.G768C:p.K256N	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00670196620199	0.0016	0.00119808	0.0006	0.0046	0.0006	0	0	0.0002	0.0044	0	0.0006209	96	154602	rs139212011	0.0004	0.0004	0.0004	0.0004	0.0039	0.0003	0.0003	0.0034	0.0032	0.0039	0.0015	0	0	0	0.0024	0.0002	0.0010	5.8e-05	0.0013	0.0013	0.0013	0.0012	0.0037	0.0011	0.0011	0.0032	0.0030	0.0037	0	0.0013	0	0	0	0.0068	0.0002	0.0014	0	0.073	0.34800	T	0.208	0.26883	T	0.007	0.14184	B	0.011	0.15521	B	0.000721	0.42129	D	0.220615	1	0.81001	D	1.27	0.32069	L	3.54	0.04799	T	-1.6	0.38540	N	0.233	0.26233	-0.9434	0.42073	T	0.005	0.01725	T	10	0.01062417	0.00236	T	0.006702	0.17699	T	0.032	0.07718	0.513	0.61153	0.436455679973	0.43264	0.4109204385920241	0.41008	0.115387954298	0.13013	0.43442684412	0.29814	T	0.151682	0.49174	T	-0.637526	0.00086	T	-0.689058	0.06444	T	0.0139311103568036	0.00266	T	0.869313	0.57326	D	0.30608582	0.53445	0.22908743	0.47969	0.30608582	0.53445	0.22908743	0.47968	-10.23	0.75277	D	.	.	0.286	0.51798	B	.	.	2.874624	0.38022	20.6	0.99449309306103828	0.65172	0.87094	0.46531	D	AEFBI	0.138873	0.26029	N	-0.378168532474755	0.26248	1.431103	-0.224436870475136	0.30662	1.728398	0.999790076765231	0.43153	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.26	2.37	0.28337	0.892000	0.27957	3.130000	0.36437	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.385:0.0:0.615:0.0	8.306	0.31205	885	0.28214	Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.025253	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1570.53	39	chr1	111760793	.	G	C	1570.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.07;DP=367;ExcessHet=0;FS=0.726;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=-0.2;SOR=0.572	GT:AD:DP:GQ:PL	0/0:113,0:113:99:0,120,1800	6	0	1	0
chr1	112712015	112712015	G	A	exonic	PPM1J	.	nonsynonymous SNV	PPM1J:NM_005167:exon5:c.C883T:p.R295W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.0200678011105	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1428637882	6.856e-06	7.525e-06	6.815e-06	6.897e-06	0.0001	3.47e-06	2.53e-06	3.354e-05	1.985e-05	0	0	0	0.0001	0	0	3.604e-06	0	2.329e-05	1.315e-05	1.314e-05	2.57e-05	0	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.471e-05	0	0	0.054	0.38633	T	0.032	0.59732	D	0.999	0.77913	D	0.877	0.64886	P	0.002564	0.36316	N	0.302755	0.982171	0.39861	D	2.27	0.64531	M	2.24	0.17923	T	-3.36	0.66549	D	0.333	0.38027	-1.0828	0.06814	T	0.060	0.25127	T	10	0.42089292	0.56856	T	0.020068	0.42586	T	0.139	0.37390	0.385	0.40460	0.507510703362	0.50389	0.7335583557087396	0.73300	0.373526394389	0.38820	0.460586249828	0.33390	T	0.25357	0.62410	T	-0.195747	0.21420	T	-0.418324	0.31268	T	0.959035098552704	0.65428	D	0.765923	0.89615	T	0.27419984	0.50486	0.16901821	0.38905	0.27419984	0.50486	0.16901821	0.38904	-8.465	0.64197	D	.	.	0.114	0.26294	B	.;.	.;.	4.505017	0.70489	25.5	0.99897964174082776	0.97048	0.74437	0.36415	D	AEFBI	0.811859	0.73473	D	0.332258639264669	0.57812	3.950041	0.259260591791884	0.53176	3.488038	0.884062035725623	0.25687	0.643511	0.44296	0	0.588066	0.40923	0	0.688494	0.62686	0	0.655142	0.61905	0	.	.	5.49	2.42	0.28720	1.286000	0.32877	3.923000	0.40484	0.676000	0.76740	0.882000	0.31029	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.505:0.495	14.628	0.68238	884	0.28482	PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	203.19	35	chr1	112712015	.	G	A	203.19	.	AC=2;AF=0.143;AN=14;DP=220;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=29.03;SOR=0.941	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	6	1	0	0
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T,SLC16A1:NM_003051:exon5:c.G1493C:p.S498T	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00694427549183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.514e-05	0.0014	1.781e-05	1.244e-05	1.721e-05	9.91e-06	8.47e-06	1.101e-05	8.87e-06	0	0	0	0	0	0	1.721e-05	3.328e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.345	0.17750	T	0.019	0.17989	B	0.006	0.12133	B	0.000194	0.00507	N	3.613670	0.514651	0.31619	N	0.55	0.14455	N	1.89	0.23688	T	0.05	0.06369	N	0.31	0.34981	-0.9605	0.39087	T	0.016	0.06377	T	10	0.06500685	0.08706	T	0.006944	0.18374	T	0.050	0.13987	0.136	0.04008	0.206203607746	0.20212	0.25754088764728017	0.25668	0.358157990037	0.37530	0.395360171795	0.24422	T	0.083635	0.37098	T	-0.185342	0.22944	T	-0.504008	0.21933	T	0.148207157850266	0.16960	T	.	.	.	0.09177888	0.21514	0.055201277	0.09640	0.09177888	0.21514	0.055201277	0.09639	-2.577	0.06330	T	.	.	0.073	0.04558	B	.;.	.;.	1.617359	0.20662	14.85	0.80462772014093309	0.13214	0.95587	0.65318	D	AEFBI	0.400058	0.47510	N	-0.522399086346691	0.21356	1.132814	-0.357056128764837	0.26292	1.451256	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	365.04	53	chr1	112913901	.	C	G	365.04	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.662;DP=436;ExcessHet=1.383;FS=118.285;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.47;ReadPosRankSum=1.47;SOR=7.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,16:94:99:0|1:112913900_A_G:161,0,2765:112913900	3	0	3	1
chr1	113590583	113590583	G	A	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G863A:p.R288K,MAGI3:NM_152900:exon5:c.G863A:p.R288K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.00896097887866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.723	0.10412	T	0.809	0.03956	T	0.575	0.42036	P	0.312	0.41466	B	0.000000	0.84330	D	0.000000	0.971329	0.38862	D	1.39	0.34934	L	2.59	0.15492	T	-0.14	0.09135	N	0.259	0.29313	-1.1527	0.00947	T	0.041	0.17827	T	10	0.1921995	0.34939	T	0.008961	0.23607	T	0.179	0.44899	0.507	0.60232	0.2338531098	0.23012	0.34597555151133935	0.34511	0.270303575424	0.29553	0.593499541283	0.51988	T	0.117585	0.43778	T	-0.114767	0.33982	T	-0.402632	0.33078	T	0.348236995317005	0.26950	T	0.841416	0.51702	T	0.26901373	0.49973	0.24551496	0.50041	0.26901373	0.49973	0.24551496	0.50039	-1.841	0.02634	T	.	.	0.122	0.25560	B	.;.;.;.	.;.;.;.	3.790096	0.54550	23.5	0.91455565075952261	0.20725	0.95188	0.63763	D	AEFDI	0.493025	0.52941	N	0.282292615830775	0.55249	3.689253	0.339121418160715	0.57854	3.952976	0.239802614676756	0.18558	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	5.9	0.94952	4.523000	0.60261	8.628000	0.77841	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	20.256	0.98419	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	203.49	50	chr1	113590583	.	G	A	203.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.265;DP=297;ExcessHet=0;FS=71.696;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.16;ReadPosRankSum=1.86;SOR=5.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1107:.	6	0	1	0
chr1	113590585	113590585	G	A	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G865A:p.D289N,MAGI3:NM_152900:exon5:c.G865A:p.D289N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0151603214366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.27783	T	0.104	0.41573	T	0.002	0.60036	B	0.011	0.54779	B	0.000000	0.84330	N	0.090924	0.999986	0.54805	D	1.9	0.50570	L	2.56	0.15261	T	-1.32	0.32991	N	0.181	0.20262	-1.1289	0.01836	T	0.030	0.13111	T	10	0.22006467	0.38693	T	0.01516	0.35730	T	0.118	0.32913	0.223	0.14665	0.263709349026	0.25991	0.43561538745645495	0.43478	0.210437242792	0.23534	0.577588796616	0.49746	T	0.099054	0.40348	T	-0.310918	0.07667	T	-0.684388	0.06720	T	0.807889938354492	0.46898	D	0.831217	0.49813	T	0.20614052	0.42778	0.11951168	0.28846	0.20614052	0.42778	0.11951168	0.28845	-8.674	0.69551	D	.	.	0.190	0.40794	B	.;.;.;.	.;.;.;.	4.061134	0.60272	24.2	0.95624117114733098	0.27396	0.98484	0.83265	D	AEFDI	0.878165	0.80325	D	0.0130293127792656	0.42447	2.55771	0.0819163579536462	0.43640	2.661558	0.788624192413497	0.23975	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	4.04	0.46262	6.343000	0.72935	9.883000	0.82214	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.1354:0.0:0.8646:0.0	12.408	0.54785	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	1267.28	37	chr1	113590585	.	G	A	1267.28	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-3.549;DP=415;ExcessHet=1.1394;FS=333.805;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=4.14;ReadPosRankSum=2.06;SOR=8.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,29:103:99:0|1:113590585_G_A:765,0,2935:113590585	3	0	2	2
chr1	113590585	113590585	G	C	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G865C:p.D289H,MAGI3:NM_152900:exon5:c.G865C:p.D289H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0204542414694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0063	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0003	0	0.0001	2.554e-05	1.873e-05	0.0002	0.0003	0.0002	9.501e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.72154	D	0.016	0.64786	D	0.682	0.73220	P	0.771	0.64423	P	0.000000	0.84330	D	0.090924	0.999997	0.58761	D	2.25	0.63811	M	2.45	0.16640	T	-2.31	0.51319	N	0.323	0.38746	-1.1300	0.01782	T	0.055	0.23110	T	10	0.28733623	0.46316	T	0.020454	0.43047	T	0.206	0.49396	0.246	0.18139	0.110392049598	0.10638	0.5781545728661651	0.57744	0.684559319626	0.60227	0.599302053452	0.52805	T	0.432916	0.78052	T	-0.107333	0.35209	T	-0.391953	0.34322	T	0.965076804161072	0.67154	D	0.90371	0.66210	D	0.4653931	0.65007	0.40592608	0.64980	0.4653931	0.65008	0.40592608	0.64980	-10.751	0.83431	D	.	.	0.556	0.67064	A	.;.;.;.	.;.;.;.	4.085831	0.60819	24.3	0.99181362579056509	0.54701	0.99025	0.90130	D	AEFDI	0.863854	0.78249	D	0.432571078238433	0.63221	4.551813	0.37549369735247	0.60058	4.189281	0.788624192413497	0.23975	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	4.04	0.46262	6.343000	0.72935	9.883000	0.82214	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.1354:0.0:0.8646:0.0	12.408	0.54785	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1267.28	37	chr1	113590585	.	G	C	1267.28	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-3.549;DP=415;ExcessHet=1.1394;FS=333.805;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=4.14;ReadPosRankSum=2.06;SOR=8.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:74,0:103:99:0|1:113590585_G_A:765,988,4009:113590585	4	0	1	2
chr1	113590588	113590588	G	A	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G868A:p.E290K,MAGI3:NM_152900:exon5:c.G868A:p.E290K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.00846044021037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.40319	T	0.293	0.43721	T	0.982	0.60036	D	0.918	0.65394	D	0.000007	0.62929	N	0.142947	0.999997	0.58761	D	2.51	0.73131	M	2.51	0.16794	T	-2.65	0.56787	D	0.433	0.47208	-1.0942	0.04869	T	0.064	0.26597	T	10	0.22067726	0.38771	T	0.00846	0.22382	T	0.413	0.72404	0.48	0.55983	0.244449712813	0.24043	0.47696213348357347	0.47616	0.638098247504	0.57551	0.653341531754	0.60460	T	0.133462	0.46416	T	0.0773476	0.61730	D	-0.126672	0.61251	T	0.983229577541351	0.74971	D	0.952605	0.81930	D	0.3622676	0.58009	0.24027264	0.49397	0.3622676	0.58009	0.24027264	0.49396	-10.586	0.77340	D	.	.	0.310	0.53747	B	.;.;.;.	.;.;.;.	4.747328	0.76619	26.5	0.99690218298802658	0.79909	0.99231	0.93164	D	AEFDI	0.898106	0.84102	D	0.382962876515898	0.60497	4.239429	0.358229968975361	0.59003	4.074818	0.999345317012579	0.39222	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	4.98	0.65679	9.560000	0.97249	11.799000	0.96598	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.8675:0.1325	16.441	0.83741	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	1264.88	35	chr1	113590588	.	G	A	1264.88	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-3.679;DP=424;ExcessHet=1.1394;FS=333.935;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=4.24;ReadPosRankSum=2.07;SOR=8.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,29:109:99:0|1:113590585_G_A:747,0,3187:113590585	2	0	3	2
chr1	113590590	113590590	G	C	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G870C:p.E290D,MAGI3:NM_152900:exon5:c.G870C:p.E290D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.00487564636394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0045	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	2.242e-05	0	5.08e-05	0	0	0.0002	0.0002	7.081e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.03085	T	1.0	0.04079	T	0.069	0.23796	B	0.051	0.25434	B	0.000007	0.62929	D	0.142947	0.643051	0.32894	D	1.54	0.38927	L	2.69	0.14783	T	1.32	0.01107	N	0.162	0.19995	-1.0079	0.27572	T	0.007	0.02399	T	10	0.03753224	0.02113	T	0.004876	0.12224	T	0.122	0.33800	0.268	0.21576	0.143184338766	0.13958	0.2702843826030742	0.26941	0.165123761365	0.18624	0.563049614429	0.47698	T	0.039485	0.25206	T	-0.238336	0.15562	T	-0.580129	0.14534	T	0.164513646206508	0.18199	T	0.848015	0.52922	T	0.07584618	0.17116	0.059709318	0.11252	0.07584618	0.17115	0.059709318	0.11251	-8.114	0.61845	D	.	.	0.077	0.06205	B	.;.;.;.	.;.;.;.	2.279428	0.29141	18.03	0.061631012715648595	0.00020	0.49120	0.28361	N	AEFDI	0.108624	0.21602	N	-0.944723580309123	0.09811	0.4660299	-0.857016727595564	0.13119	0.6788146	4.96757964133831E-4	0.07150	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	-0.268	0.12295	-0.048000	0.11898	1.843000	0.29202	-0.796000	0.03208	0.834000	0.30193	1.000000	0.68203	0.976000	0.56436	0.5848:0.0:0.4152:0.0	11.346	0.48798	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	1784.33	27	chr1	113590590	.	G	C	1784.33	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-1.12;DP=426;ExcessHet=3.1439;FS=635.154;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.83;ReadPosRankSum=1.19;SOR=9.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,29:109:99:0|1:113590585_G_A:747,0,3187:113590585	1	0	4	2
chr1	113590597	113590597	G	A	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G877A:p.E293K,MAGI3:NM_152900:exon5:c.G877A:p.E293K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344	0.00424447028335	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.44358	T	0.033	0.53072	D	0.936	0.55554	P	0.81	0.58608	P	0.000001	0.84330	D	0.098174	0.999979	0.53665	D	1.225	0.30651	L	2.54	0.15843	T	-0.98	0.25986	N	0.582	0.63713	-1.0871	0.06030	T	0.041	0.17615	T	10	0.34597075	0.51560	T	0.004244	0.10247	T	0.344	0.66582	0.499	0.58991	0.0934897674506	0.08844	0.7044464026243406	0.70386	0.614339336528	0.55958	0.594983875751	0.52196	T	0.117834	0.43822	T	-0.074423	0.40618	T	-0.34468	0.39814	T	0.936187207698822	0.60499	D	0.942906	0.81072	D	0.28822857	0.51827	0.23320168	0.48503	0.28822857	0.51827	0.23320168	0.48502	-14.977	0.95798	D	.	.	0.708	0.73276	P	.;.;.;.	.;.;.;.	4.472077	0.69692	25.4	0.9981885909623377	0.90150	0.99231	0.93164	D	AEFDI	0.898106	0.84102	D	0.2454207515239	0.53412	3.510231	0.265188684991688	0.53517	3.520339	0.999345317012579	0.39222	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	4.98	0.65679	9.560000	0.97249	11.799000	0.96598	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8675:0.1325	16.441	0.83741	538	0.73119	.;WW domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	960.06	35	chr1	113590597	.	G	A	960.06	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-3.176;DP=426;ExcessHet=1.1394;FS=288.527;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=3.1;ReadPosRankSum=1.67;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,29:107:99:0|1:113590585_G_A:753,0,3066:113590585	4	0	3	0
chr1	114139664	114139664	G	A	exonic	SYT6	.	nonsynonymous SNV	SYT6:NM_001253772:exon2:c.C463T:p.R155C,SYT6:NM_001270805:exon2:c.C208T:p.R70C,SYT6:NM_001366223:exon2:c.C208T:p.R70C,SYT6:NM_001366224:exon2:c.C463T:p.R155C,SYT6:NM_001366225:exon2:c.C463T:p.R155C,SYT6:NM_001366226:exon2:c.C208T:p.R70C,SYT6:NM_205848:exon2:c.C208T:p.R70C	.	434	1053	34	1	0	36	0.0168067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	.	0.0008	0.00359425	0.0038	0	0.0025	0.0008	0	0.0014	0.0055	0.0202	0.0033441	517	154602	rs144510124	0.0022	0.0022	0.0016	0.0028	0.0210	0.0021	0.0021	0.0202	0.0198	0.0002	0.0016	0.0011	0.0001	7.488e-05	0.0087	0.0010	0.0024	0.0210	0.0014	0.0014	0.0012	0.0017	0.0191	0.0013	0.0012	0.0160	0.0148	0.0002	0	0.0013	0.0017	0.0002	0	0.0034	0.0012	0.0043	0.0191	0.029	0.45756	D	0.048	0.79402	D	0.998	0.73220	D	0.786	0.57542	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.44	0.70756	M	0.27	0.59176	T	-2.81	0.59389	D	0.674	0.70615	-0.5722	0.65927	T	0.243	0.61166	T	10	0.0058371425	0.00130	T	.	.	.	0.315	0.63694	.	.	0.863481631396	0.86215	0.6045719063240254	0.60388	0.585778978891	0.54207	0.660595178604	0.61495	T	0.055268	0.29957	T	-0.0418585	0.45672	T	0.182692	0.82151	D	0.0655522304578806	0.08013	T	0.978302	0.92553	D	0.3139685	0.54127	0.169706	0.39025	0.3139685	0.54127	0.169706	0.39024	-7.384	0.65962	T	.	.	0.167	0.67128	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.202704	0.87283	29.2	0.99915425814779713	0.98379	0.91563	0.53791	D	AEFDBCI	0.824681	0.74453	D	0.661367253560518	0.77107	6.61134	0.66266922490195	0.79555	7.107713	0.99999152714281	0.74766	0.719381	0.83141	0	0.59043	0.45803	0	0.723133	0.82415	0	0.542086	0.14980	0	.	.	5.49	5.49	0.81022	3.918000	0.56144	11.927000	0.99878	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8574:0.1426	15.046	0.71491	205	0.92010	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.006793	0.002924	0.000000	0.000000	0.003049	0.015152	0.07143	702.45	33	chr1	114139664	.	G	A	702.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.493;DP=252;ExcessHet=0;FS=0.855;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=-1.179;SOR=0.818	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1123	6	0	1	0
chr1	114600348	114600348	A	G	exonic	DENND2C	.	nonsynonymous SNV	DENND2C:NM_198459:exon12:c.T1790C:p.I597T,DENND2C:NM_001256404:exon15:c.T1961C:p.I654T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.0161000532973	7.7e-05	.	2.474e-05	0.0003	0	0	0	0	0	0	1.94e-05	3	154602	rs372506444	9.578e-06	9.577e-06	9.53e-06	9.627e-06	0.0003	5.56e-06	4.35e-06	0.0002	0.0001	0.0003	0	0	0	0	0	0	3.312e-05	1.16e-05	4.6e-05	4.596e-05	2.57e-05	6.726e-05	0.0002	2.109e-05	1.527e-05	7.892e-05	5.588e-05	0.0002	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.002	0.79402	D	0.051	0.45105	B	0.13	0.51027	B	0.000150	0.49130	D	0.136431	0.99995	0.81001	D	2.365	0.68172	M	2.66	0.12575	T	-3.9	0.72932	D	0.574	0.66272	-1.1731	0.00482	T	0.047	0.19958	T	10	0.38153833	0.54231	T	0.016	0.37187	T	0.262	0.57482	.	.	0.335910606209	0.33200	0.6821492249675575	0.68153	0.333024586191	0.35342	0.427179783583	0.28823	T	0.022533	0.17353	T	-0.160159	0.26735	T	-0.171641	0.57293	T	0.623746871948242	0.37360	D	0.963804	0.86607	D	0.66635686	0.76238	0.63209933	0.78534	0.66635686	0.76239	0.63209933	0.78535	-9.191	0.69682	D	.	.	0.145	0.44345	B	.;.;.	.;.;.	4.681268	0.74909	26.2	0.99664871227396656	0.78202	0.98565	0.84156	D	AEFDBI	0.672734	0.63903	D	0.382510104620311	0.60474	4.236729	0.470930588484467	0.66072	4.904681	0.999994013955403	0.74766	0.554377	0.28877	0	0.486142	0.07564	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.88	5.88	0.94564	5.012000	0.63775	11.270000	0.91373	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	16.336	0.82894	737	0.53483	.;cDENN domain|Tripartite DENN domain|cDENN domain;cDENN domain|Tripartite DENN domain|cDENN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1422.44	34	chr1	114600348	.	A	G	1422.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.347;DP=296;ExcessHet=0;FS=2.414;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-0.411;SOR=0.486	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1099	6	0	1	0
chr1	114625318	114625318	A	G	exonic	DENND2C	.	nonsynonymous SNV	DENND2C:NM_198459:exon2:c.T667C:p.S223P,DENND2C:NM_001256404:exon4:c.T667C:p.S223P	.	428	1012	81	1	0	83	0.0393925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0069	0.0127796	0.0083	0.0164	0.0035	0.0003	0.0009	0.0033	0.0121	0.0336	0.0076325	1180	154602	rs61481107	0.0050	0.0050	0.0041	0.0058	0.0322	0.0049	0.0048	0.0312	0.0308	0.0174	0.0040	0.0058	0.0004	0.0008	0.0192	0.0027	0.0065	0.0322	0.0074	0.0074	0.0066	0.0082	0.0267	0.0071	0.0069	0.0230	0.0216	0.0157	0	0.0059	0.0035	0.0004	0.0008	0.0068	0.0032	0.0090	0.0267	0.041	0.41915	D	0.27	0.22359	T	0.71	0.50838	P	0.43	0.46123	B	0.946909	0.08314	N	0.974000	1	0.08975	N	1.23	0.30720	L	3.7	0.08547	T	-0.11	0.09627	N	0.298	0.33687	-0.9632	0.38567	T	0.009	0.03183	T	10	0.0032031536	0.00054	T	.	.	.	0.054	0.15330	.	.	0.43965937752	0.43585	0.3305454103579607	0.32967	0.219717392512	0.24512	0.45200419426	0.32217	T	0.001868	0.01280	T	-0.522665	0.00424	T	-0.499174	0.22434	T	0.0252535699938177	0.01306	T	0.692631	0.30204	T	0.08959558	0.20938	0.11387794	0.27486	0.08959558	0.20938	0.11387794	0.27485	-1.336	0.03392	T	.	.	0.151	0.33296	B	.;.;.	.;.;.	2.615992	0.33986	19.50	0.98189797006152302	0.39018	0.41650	0.26704	N	AEFI	0.132841	0.25230	N	0.0123055205367606	0.42415	2.555	0.00698991770262013	0.40038	2.383225	0.00520476885531698	0.10862	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.2	1.08	0.19456	1.001000	0.29384	4.435000	0.43365	0.691000	0.84096	0.969000	0.34210	1.000000	0.68203	0.591000	0.31164	0.5201:0.114:0.0888:0.2771	1.844	0.02964	728	0.54609	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020141	0.005051	0.016304	0.023392	0.000000	0.017241	0.036585	0.041667	0.1429	2449.24	33	chr1	114625318	.	A	G	2449.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.1;DP=385;ExcessHet=0.3476;FS=2.235;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=2.31;SOR=0.542	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,944	5	0	2	0
chr1	114677399	114677399	C	T	exonic	AMPD1	.	nonsynonymous SNV	AMPD1:NM_001172626:exon9:c.G1427A:p.R476H,AMPD1:NM_000036:exon10:c.G1340A:p.R447H	Myopathy due to myoadenylate deaminase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	0.0971491806995	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1273170766	5.472e-06	5.472e-06	2.722e-06	8.25e-06	2.987e-05	2.35e-06	1.7e-06	3.85e-06	1.44e-06	2.987e-05	2.236e-05	0	0	0	0	3.597e-06	0	2.319e-05	6.715e-06	6.58e-06	0	1.38e-05	6.765e-05	0	0	.	.	0	0	6.765e-05	0	0	0	0	0	0	0	0.022	0.48642	D	0.039	0.54159	D	.	.	.	.	.	.	0.000000	0.84330	D	0.088776	0.999926	0.51308	D	1.185	0.30054	L	-1.75	0.83495	D	-1.9	0.44284	N	0.378	0.41952	0.033	0.82914	D	0.495	0.80873	T	10	0.45506963	0.58938	T	0.097149	0.76724	D	0.397	0.71163	.	.	0.929092460382	0.92836	0.8024237461328525	0.80196	0.127740691403	0.14408	0.395071923733	0.24381	T	0.664465	0.89969	D	-0.0555236	0.43605	T	-0.234667	0.51317	T	0.912144303321838	0.56794	D	0.768523	0.39806	T	0.106768556	0.25247	0.097097024	0.23096	0.106768556	0.25247	0.097097024	0.23096	-4.304	0.28316	T	0.27063402388320684	0.36414	0.086	0.12132	B	.;.	.;.	3.404123	0.47195	22.4	0.99940741288163693	0.99797	0.90197	0.51185	D	AEFBI	0.472835	0.51778	N	0.320366040679015	0.57193	3.885949	0.290980423330624	0.55010	3.664751	0.527213356379127	0.21146	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.85	4.95	0.64894	1.830000	0.38770	0.263000	0.16568	0.599000	0.40250	0.794000	0.29644	0.010000	0.20010	0.762000	0.36218	0.0:0.8609:0.0:0.1391	11.301	0.48538	821	0.40814	Adenosine/AMP deaminase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1113.63	34	chr1	114677399	.	C	T	1113.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.758;DP=256;ExcessHet=0;FS=1.771;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=0.781;SOR=0.705	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L,CSDE1:NM_001242892:exon9:c.G1006C:p.V336L,CSDE1:NM_007158:exon9:c.G913C:p.V305L,CSDE1:NM_001007553:exon10:c.G1006C:p.V336L,CSDE1:NM_001130523:exon10:c.G1051C:p.V351L,CSDE1:NM_001242891:exon11:c.G1144C:p.V382L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	1393.41	90	chr1	114732648	.	C	G	1393.41	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.763;DP=766;ExcessHet=4.7409;FS=287.227;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=2.53;ReadPosRankSum=1.54;SOR=11.262	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:108,45:180:99:.:.:289,0,1319:.	2	0	5	0
chr1	115286582	115286582	C	T	exonic	NGF	.	nonsynonymous SNV	NGF:NM_002506:exon3:c.G214A:p.V72M	Neuropathy, hereditary sensory and autonomic, type V, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	447175	not_provided|not_specified|NGF-related_disorder|Congenital_sensory_neuropathy_with_selective_loss_of_small_myelinated_fibers	MedGen:C3661900|MedGen:CN169374|.|MONDO:MONDO:0012092,MedGen:C0020075,OMIM:608654,Orphanet:64752	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.197	.	0.0062	0.00678914	0.0020	0.0222	0.0010	0	0	7.503e-05	0.0011	0	0.0019922	308	154602	rs11466110	0.0007	0.0007	0.0008	0.0006	0.0222	0.0006	0.0006	0.0208	0.0203	0.0222	0.0012	0	0	0	0.0021	6.205e-05	0.0018	4.637e-05	0.0067	0.0067	0.0069	0.0065	0.0237	0.0064	0.0062	0.0225	0.0220	0.0237	0	0.0015	0	0	0	0	0.0001	0.0043	0.0002	0.38	0.11191	T	0.191	0.28391	T	1.0	0.90584	D	0.98	0.74843	D	0.000001	0.62929	D	0.055974	0.999997	0.58761	D	1.925	0.51371	L	-0.32	0.68181	T	-1.48	0.36189	N	0.227	0.25499	-0.6417	0.63073	T	0.316	0.68602	T	10	0.008228123	0.00187	T	.	.	.	0.197	0.47942	.	.	0.67929933533	0.67657	0.5717152784642255	0.57099	1.1107814178	0.78050	0.738262176514	0.72716	T	0.259782	0.63109	T	-0.439316	0.01305	T	-0.386238	0.34992	T	0.0128651752257827	0.00220	T	0.964603	0.86885	D	0.18758969	0.40220	0.18838458	0.42125	0.18758969	0.40219	0.18838458	0.42124	-5.576	0.42573	T	0.293219383976122	0.38998	0.398	0.59460	A	.	.	2.612455	0.33929	19.48	0.99768900788741099	0.85750	0.98177	0.80270	D	AEFBI	0.695359	0.65405	D	0.473625243197483	0.65556	4.83727	0.471733607816886	0.66124	4.911385	0.999999999996955	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.06	5.06	0.67838	2.609000	0.45981	4.892000	0.45774	0.549000	0.26987	0.997000	0.40164	1.000000	0.68203	0.861000	0.40843	0.0:1.0:0.0:0.0	17.567	0.87821	186	0.92733	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006048	0.010101	0.012228	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	1910.46	36	chr1	115286582	.	C	T	1910.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.662;DP=352;ExcessHet=0;FS=2.759;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=0.037;SOR=0.509	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1351	6	0	1	0
chr1	115768369	115768369	T	A	exonic	CASQ2	.	nonsynonymous SNV	CASQ2:NM_001232:exon1:c.A173T:p.E58V	Ventricular tachycardia, catecholaminergic polymorphic, 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	228265	not_specified|Catecholaminergic_polymorphic_ventricular_tachycardia_2|Catecholaminergic_polymorphic_ventricular_tachycardia_1|Cardiovascular_phenotype|not_provided	MedGen:CN169374|MONDO:MONDO:0012762,MedGen:C2677794,OMIM:611938,Orphanet:3286|MONDO:MONDO:0011484,MedGen:C1631597,OMIM:604772,Orphanet:3286|MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.199	0.0358256075734	.	.	4.942e-05	0	0	0	0	8.99e-05	0	0	3.88e-05	6	154602	rs764732977	3.557e-05	3.557e-05	3.131e-05	3.988e-05	4.407e-05	2.762e-05	2.501e-05	3.373e-05	3.038e-05	0	0	0	0	0	0	4.407e-05	4.967e-05	0	5.257e-05	5.253e-05	7.707e-05	2.691e-05	0.0001	2.557e-05	1.83e-05	5.841e-05	4.239e-05	0	0	0	0	0	0	0	0.0001	0	0	0.167	0.23095	T	0.182	0.29249	T	0.108	0.26116	B	0.099	0.30579	B	0.000224	0.47286	D	0.219975	0.999301	0.46608	D	2.42	0.70002	M	0.99	0.41750	T	-2.63	0.56466	D	0.82	0.81559	-0.9962	0.30974	T	0.078	0.31163	T	10	0.82724094	0.81899	D	0.035826	0.56599	D	0.199	0.48268	0.7	0.83684	0.540472623666	0.53699	0.7886618005522901	0.78818	0.158420309708	0.17889	0.575785577297	0.49493	T	0.503384	0.82290	D	-0.112472	0.34361	T	-0.201691	0.54486	T	0.399961560964584	0.28940	T	0.849815	0.53298	T	0.2800987	0.51058	0.14308502	0.34017	0.2800987	0.51058	0.14308502	0.34016	-11.344	0.81511	D	0.14648610587816374	0.16900	0.152	0.33619	B	.	.	3.542988	0.49765	22.8	0.99030495757180248	0.50786	0.93699	0.58939	D	AEFDBI	0.841321	0.75852	D	-0.0415932933442127	0.39977	2.366469	0.0243622644384042	0.40849	2.444457	0.999889439555789	0.44867	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.49	4.36	0.51643	4.762000	0.61946	2.919000	0.35553	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.682000	0.33600	0.0:0.0:0.3149:0.6851	11.434	0.49301	783	0.47268	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1113.44	33	chr1	115768369	.	T	A	1113.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.205;DP=295;ExcessHet=0;FS=1.701;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.112;SOR=0.946	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	6	0	1	0
chr1	116393708	116393708	G	A	exonic	ATP1A1	.	nonsynonymous SNV	ATP1A1:NM_000701:exon12:c.G1645A:p.G549R,ATP1A1:NM_001160233:exon12:c.G1645A:p.G549R,ATP1A1:NM_001160234:exon12:c.G1552A:p.G518R	.	.	.	.	.	.	.	.	.	.	YES	1289744	Charcot-Marie-tooth_disease,_axonal,_type_2DD|not_provided	MONDO:MONDO:0054833,MedGen:C4747974,OMIM:618036,Orphanet:521414|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.947	0.388793938573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.775	0.95212	H	-2.18	0.86722	D	-6.56	0.91998	D	0.971	0.98167	1.024	0.97604	D	0.877	0.95918	D	10	0.964036	0.95854	D	0.388794	0.93140	D	0.947	0.98955	0.83	0.93978	0.989019659197	0.98889	0.9898287690295384	0.98977	2.79814820781	0.98885	0.896514296532	0.96044	D	0.904717	0.98158	D	0.473999	0.93487	D	0.44309	0.93406	D	0.998376488685608	0.93972	D	0.968703	0.88660	D	0.84082335	0.86667	0.7746958	0.86705	0.84082335	0.86669	0.7746958	0.86706	-14.756	0.95254	D	.	.	1.000	0.99395	P	.;.;.	.;.;.	5.594136	0.92403	32	0.99921363009044462	0.98787	0.99493	0.96700	D	AEFBI	0.967156	0.98963	D	1.07578549194751	0.97660	16.522	0.947442180229328	0.97327	15.94415	0.999999999263411	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.63	4.63	0.57175	9.893000	0.98592	11.750000	0.95386	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.834000	0.39329	0.0:0.0:1.0:0.0	18.038	0.89233	731	0.54177	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	175.83	40	chr1	116393708	.	G	A	175.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.33;ReadPosRankSum=-0.49;SOR=0.368	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1253	6	0	1	0
chr1	116579647	116579647	-	GTC	exonic	IGSF3	.	nonframeshift insertion	IGSF3:NM_001007237:exon10:c.3078_3079insGAC:p.D1026_P1027insD,IGSF3:NM_001542:exon11:c.3138_3139insGAC:p.D1046_P1047insD	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0006	0.0023	0.0010	0.0008	0	0.0002	0	0.0006	0.0003074	8	26028	rs531457319	0.0004	0.0004	0.0004	0.0003	0.0027	0.0003	0.0003	0.0022	0.0021	0.0027	0.0010	0	0.0004	3.834e-05	0.0014	0.0002	0.0011	0.0008	0.0012	0.0012	0.0012	0.0012	0.0031	0.0011	0.0010	0.0027	0.0025	0.0031	0	0.0015	0	0.0004	0	0	0.0002	0.0014	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1933.41	34	chr1	116579647	.	G	GGTC	1933.41	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.688;DP=309;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.72;ReadPosRankSum=0.264;SOR=0.722	GT:AD:DP:GQ:PL	0/1:39,50:89:99:1944,0,1582	6	0	1	0
chr1	116614170	116614170	G	C	exonic	IGSF3	.	nonsynonymous SNV	IGSF3:NM_001007237:exon4:c.C427G:p.P143A,IGSF3:NM_001542:exon4:c.C427G:p.P143A	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	.	.	0.00379393	0.0018	0	8.703e-05	0.0001	0	0	0	0.0128	0.0015006	232	154602	rs372542197	0.0006	0.0006	0.0004	0.0008	0.0098	0.0006	0.0006	0.0093	0.0090	8.991e-05	0	0	5.055e-05	0	0	3.611e-06	0.0007	0.0098	0.0003	0.0003	0.0002	0.0005	0.0106	0.0003	0.0002	0.0083	0.0074	0	0	0	0	0	0	0	0	0	0.0106	0.116	0.28395	T	0.478	0.12491	T	0.986	0.61523	D	0.9	0.63913	P	0.000001	0.62929	D	0.059305	0.99999	0.58761	D	1.46	0.36832	L	3.76	0.03892	T	-5.62	0.86758	D	0.25	0.30574	-1.0588	0.12058	T	0.021	0.09056	T	10	0.009071648	0.00205	T	.	.	.	0.239	0.54358	0.368	0.37687	0.352477664867	0.34857	0.547030175889436	0.54629	1.348062469	0.84020	0.440452218056	0.30638	T	0.268884	0.64104	T	-0.552092	0.00283	T	-0.556423	0.16714	T	0.174338019675252	0.18871	T	0.805419	0.45334	T	0.3576347	0.57655	0.41813827	0.65846	0.3444815	0.56634	0.33704388	0.59498	-8.618	0.65424	D	.	.	0.088	0.16319	B	.;.;.	.;.;.	3.718070	0.53115	23.3	0.98206151113706341	0.39167	0.93816	0.59273	D	AEFDBI	0.515452	0.54240	D	0.634878993814392	0.75392	6.297982	0.643186806162706	0.78103	6.809661	0.999996076868944	0.74766	0.706298	0.61202	0	0.546412	0.12157	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.02	5.02	0.66742	4.981000	0.63540	8.578000	0.77634	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	15.870	0.78889	652	0.62785	.;Immunoglobulin-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001009	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	219.53	15	chr1	116614170	.	G	C	219.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.694;DP=181;ExcessHet=0;FS=2.114;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=-1.641;SOR=0.193	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	6	0	1	0
chr1	117010183	117010183	C	A	exonic	CD101	.	nonsynonymous SNV	CD101:NM_001256106:exon2:c.C377A:p.T126N,CD101:NM_001256109:exon2:c.C377A:p.T126N,CD101:NM_001256111:exon2:c.C377A:p.T126N,CD101:NM_004258:exon2:c.C377A:p.T126N	.	.	.	.	.	.	.	.	.	.	.	2374940	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.420	0.0752162709359	0.0003	0.000399361	0.0001	0.0013	0	0	0	1.503e-05	0	0	0.00011	17	154602	rs150988152	5.609e-05	5.609e-05	6.806e-05	4.4e-05	0.0019	4.61e-05	4.236e-05	0.0016	0.0014	0.0019	0	0	0	0	0.0002	5.396e-06	0.0002	0	0.0004	0.0004	0.0004	0.0005	0.0015	0.0004	0.0003	0.0012	0.0011	0.0015	0	0.0003	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999969	0.52935	D	3.16	0.88528	M	-0.17	0.65563	T	-4.74	0.80172	D	0.652	0.66272	-0.0276	0.81681	T	0.463	0.79184	T	10	0.23334405	0.40350	T	0.075216	0.72233	D	0.420	0.72930	.	.	0.896604443087	0.89557	0.6822968779990731	0.68168	0.526042768885	0.50237	0.56297492981	0.47688	T	0.450246	0.79143	T	-0.274149	0.11299	T	-0.1912	0.55478	T	0.311407119773488	0.25472	T	0.763424	0.38984	T	0.58300877	0.71772	0.524675	0.72538	0.58300877	0.71773	0.524675	0.72538	-9.806	0.72742	D	.	.	0.401	0.59650	A	.;.	.;.	4.324033	0.66207	24.9	0.99116826926065682	0.52880	0.98831	0.87428	D	AEFDBI	0.862415	0.78069	D	0.750162770132426	0.82915	7.882385	0.639156967135007	0.77805	6.750777	0.999999999999884	0.74766	0.516011	0.20929	0	0.588066	0.40923	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.79	5.79	0.91751	4.673000	0.61297	7.620000	0.62269	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.221000	0.22489	0.0:1.0:0.0:0.0	17.534	0.87719	883	0.28872	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	915.45	72	chr1	117010183	.	C	A	915.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.158;DP=250;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-0.721;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1135	6	0	1	0
chr1	117076755	117076755	C	G	exonic	TTF2	.	nonsynonymous SNV	TTF2:NM_003594:exon7:c.C1505G:p.P502R	.	423	1087	9	3	0	15	0.00685244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.0546821588281	0.0008	0.000798722	0.0006	9.61e-05	0.0004	0	0.0002	0.0009	0.0022	6.089e-05	0.0005563	86	154602	rs142460316	0.0009	0.0009	0.0009	0.0009	0.0017	0.0009	0.0009	0.0010	0.0010	0.0003	0.0007	0.0007	0	0.0001	0.0017	0.0011	0.0012	0.0002	0.0007	0.0007	0.0007	0.0006	0.0011	0.0006	0.0005	0.0009	0.0008	0.0001	0	0.0009	0	0	0.0002	0	0.0011	0.0019	0.0004	0.026	0.46910	D	0.032	0.53426	D	0.684	0.41517	P	0.209	0.37260	B	0.048019	0.23291	N	0.219801	1	0.08975	N	2.05	0.56469	M	-2.22	0.87038	D	-2.38	0.52451	N	0.368	0.40963	-0.3139	0.74595	T	0.531	0.82583	D	10	0.018920392	0.00416	T	0.054682	0.65950	D	0.247	0.55478	.	.	0.820817334265	0.81912	0.41558741462957033	0.41474	0.199913314117	0.22393	0.28744751215	0.08552	T	0.029907	0.21320	T	-0.28428	0.10218	T	-0.231566	0.51621	T	0.00934911947987783	0.00119	T	0.329867	0.06895	T	0.09596712	0.22596	0.06615327	0.13510	0.09596712	0.22596	0.06615327	0.13510	-6.046	0.46662	T	.	.	0.085	0.10256	B	.	.	1.364117	0.17734	13.34	0.9849430273230676	0.42132	0.19087	0.20522	N	AEFBI	0.051833	0.09196	N	-0.289949994759726	0.29536	1.638753	-0.443235559324899	0.23742	1.296302	0.913130403057434	0.26414	0.722319	0.85440	0	0.702456	0.74545	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.93	3.01	0.33872	1.252000	0.32476	0.114000	0.14823	-0.176000	0.10722	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.1584:0.6772:0.0:0.1644	5.531	0.16273	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.000000	0.005848	0.000000	0.000000	0.006098	0.000000	0.07143	903.63	57	chr1	117076755	.	C	G	903.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.288;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.85;ReadPosRankSum=1.39;SOR=0.741	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr1	117984742	117984742	T	G	exonic	SPAG17	.	nonsynonymous SNV	SPAG17:NM_206996:exon41:c.A5710C:p.K1904Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0122374072761	.	.	.	.	.	.	.	.	.	.	.	.	.	rs950491933	2.056e-06	2.052e-06	1.364e-06	2.754e-06	5.983e-05	5.5e-07	1.5e-07	9.91e-06	3.71e-06	5.983e-05	0	0	0	0	0	9.008e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.008	0.67890	D	0.493	0.37004	P	0.155	0.34417	B	0.012698	0.29088	N	0.376195	1	0.08975	N	1.245	0.31408	L	2.06	0.20523	T	-1.82	0.47008	N	0.186	0.20262	-1.0480	0.14960	T	0.016	0.06425	T	10	0.092344046	0.16253	T	0.012237	0.30635	T	0.021	0.04004	0.333	0.32005	0.295623431141	0.29171	0.38269660706223263	0.38184	0.0721561855387	0.08090	0.37390729785	0.21391	T	0.011415	0.10189	T	-0.251471	0.13919	T	-0.598997	0.12895	T	0.203695101384294	0.20618	T	0.428957	0.12198	T	0.17158386	0.37800	0.093175344	0.21994	0.17158386	0.37799	0.093175344	0.21993	-4.005	0.23878	T	0.2552983870255792	0.34520	0.126	0.27463	B	.;.	.;.	1.483728	0.19096	14.09	0.90140675703210604	0.19420	0.11212	0.16483	N	AEFBI	0.065180	0.12699	N	-0.547319808157966	0.20566	1.085199	-0.577686645103664	0.20075	1.079991	8.53896272504599E-5	0.04703	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.02	3.53	0.39533	0.905000	0.28127	2.782000	0.34741	0.665000	0.62972	0.040000	0.20979	0.214000	0.23665	0.009000	0.08673	0.0:0.0:0.3047:0.6953	10.733	0.45308	642	0.63909	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	557.63	33	chr1	117984742	.	T	G	557.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.93;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.71;ReadPosRankSum=0.944;SOR=0.602	GT:AD:DP:GQ:PL	0/1:40,24:64:99:568,0,927	6	0	1	0
chr1	119743997	119743997	C	A	exonic	PHGDH	.	nonsynonymous SNV	PHGDH:NM_006623:exon12:c.C1559A:p.A520E	Neu-Laxova syndrome 1, Autosomal recessive;Phosphoglycerate dehydrogenase deficiency, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	718144	Inborn_genetic_diseases|PHGDH_deficiency|not_specified|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011152,MedGen:C1866174,OMIM:601815,Orphanet:79351|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.379	0.0486002953822	0.0012	0.000399361	0.0009	0.0013	0.0010	0	0	0.0011	0.0011	0.0007	0.0008861	137	154602	rs151275800	0.0007	0.0007	0.0007	0.0007	0.0125	0.0007	0.0006	0.0102	0.0093	0.0011	0.0016	0.0069	0	0	0.0125	0.0004	0.0015	0.0011	0.0010	0.0010	0.0008	0.0012	0.0031	0.0009	0.0008	0.0024	0.0022	0.0008	0	0.0031	0.0075	0	0	0.0204	0.0004	0.0028	0.0006	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	0.566532	0.11282	N	0.828739	1	0.08975	N	1.04	0.26193	L	.	.	.	.	.	.	.	.	-0.8318	0.53185	T	0.234	0.60026	T	10	0.006540984	0.00148	T	0.049	0.63443	D	.	.	.	.	.	.	0.6366318522980537	0.63597	.	.	0.245699360967	0.03328	T	0.349448	0.71730	T	-0.269329	0.11832	T	-0.184276	0.56125	T	0.00205499541875495	0.00021	T	0.606339	0.22935	T	0.10596267	0.25054	0.12344998	0.29768	0.08888882	0.20750	0.12371422	0.29829	-3.725	0.19688	T	0.15874933436553146	0.19257	0.11	0.21201	B	.;.;.;.	.;.;.;.	1.436049	0.18546	13.80	0.92638486417996646	0.22111	0.16378	0.19361	N	AEFDGBHCI	0.393475	0.47110	N	-0.986973232252806	0.08881	0.4181502	-0.933380390494312	0.11309	0.5753723	0.999999769944465	0.74766	0.712529	0.81865	0	0.635938	0.57008	0	0.67197	0.60751	0	0.691587	0.68394	0	.	.	5.81	2.93	0.33092	0.593000	0.23700	1.025000	0.23435	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.851000	0.40252	0.1652:0.6653:0.0:0.1696	5.167	0.14419	755	0.51144	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.005051	0.016304	0.014620	0.000000	0.008621	0.000000	0.011364	0.07143	534.45	26	chr1	119743997	.	C	A	534.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.684;DP=207;ExcessHet=0;FS=4.388;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=1.03;SOR=0.593	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1153	6	0	1	0
chr1	119755490	119755490	G	C	exonic	HMGCS2	.	nonsynonymous SNV	HMGCS2:NM_001166107:exon5:c.C998G:p.S333C,HMGCS2:NM_005518:exon6:c.C1124G:p.S375C	HMG-CoA synthase-2 deficiency, Autosomal recessive	0	1504	18	0	0	18	0.00594845	.	.	.	276465	not_provided|3-hydroxy-3-methylglutaryl-CoA_synthase_deficiency|not_specified	MedGen:C3661900|MONDO:MONDO:0011614,MedGen:C2751532,OMIM:605911,Orphanet:35701|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.578	.	0.0004	0.00399361	0.0019	0.0002	0.0003	0	0	0.0002	0.0011	0.0127	0.0016753	259	154602	rs151328418	0.0010	0.0010	0.0006	0.0013	0.0128	0.0009	0.0009	0.0122	0.0120	0.0002	8.944e-05	7.652e-05	2.519e-05	0	0.0026	0.0002	0.0010	0.0128	0.0006	0.0006	0.0004	0.0009	0.0141	0.0005	0.0005	0.0114	0.0104	7.219e-05	0	0.0002	0	0	9.42e-05	0	0.0003	0.0009	0.0141	0.011	0.55530	D	0.017	0.60337	D	1.0	0.90584	D	0.998	0.88582	D	0.001595	0.38554	N	0.185657	0.999968	0.52935	D	2.23	0.63091	M	-1.17	0.78199	T	-2.28	0.50830	N	0.864	0.86404	0.076	0.83737	D	0.542	0.83122	D	10	0.013461292	0.00285	T	.	.	.	0.578	0.82968	.	.	0.914753015564	0.91389	0.47170183242617564	0.47089	0.509296270345	0.49072	0.528510212898	0.42824	T	0.541205	0.84295	D	-0.137979	0.30211	T	0.0400577	0.72932	D	0.0623311034081158	0.07531	T	0.854615	0.54143	D	0.6254988	0.74057	0.3769495	0.62805	0.57394576	0.71278	0.4756891	0.69618	-9.718	0.72699	D	0.24168275128639305	0.32738	0.171	0.38080	B	.;.	.;.	4.130297	0.61802	24.4	0.98637468825228192	0.44001	0.99315	0.94380	D	AEFGBI	0.972460	0.99427	D	0.730189148890773	0.81611	7.563106	0.679394563703988	0.80818	7.383954	0.999999999996283	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.57	5.57	0.84021	9.401000	0.96640	8.246000	0.76856	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.030000	0.13115	0.0:0.0:1.0:0.0	17.401	0.87350	786	0.46839	Hydroxymethylglutaryl-coenzyme A synthase C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	98.44	36	chr1	119755490	.	G	C	98.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.24;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-0.816;SOR=1.609	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1320	6	0	1	0
chr1	119926524	119926524	T	C	exonic	NOTCH2	.	nonsynonymous SNV	NOTCH2:NM_024408:exon24:c.A3980G:p.D1327G	Alagille syndrome 2, Autosomal dominant;Hajdu-Cheney syndrome, Autosomal dominant	5	1401	110	6	0	122	0.0417237	.	.	.	138711	Hajdu-Cheney_syndrome|not_specified|not_provided	MONDO:MONDO:0007057,MedGen:C0917715,OMIM:102500,Orphanet:955|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.401	.	0.0050	0.0109824	0.0169	0.0015	0.0056	0.0004	0.0039	0.0109	0.0240	0.0642	0.0107825	1667	154602	rs61752484	0.0090	0.0091	0.0077	0.0104	0.0522	0.0089	0.0088	0.0509	0.0504	0.0012	0.0043	0.0051	0.0001	0.0027	0.0266	0.0068	0.0090	0.0522	0.0061	0.0061	0.0059	0.0062	0.0440	0.0057	0.0056	0.0392	0.0373	0.0016	0.0066	0.0040	0.0081	0	0.0027	0.0136	0.0074	0.0071	0.0440	0.411	0.10115	T	0.407	0.14679	T	0.101	0.25775	B	0.061	0.26820	B	0.028087	0.25656	U	0.187689	0.63999	0.32867	D	0.36	0.11994	N	-2.83	0.91249	D	-0.83	0.22727	N	0.233	0.26233	-0.7823	0.56172	T	0.259	0.62955	T	10	0.005875975	0.00132	T	.	.	.	0.401	0.71479	.	.	.	.	0.5572658966142893	0.55653	0.902817761121	0.70701	0.378910720348	0.22102	T	0.340968	0.70992	T	-0.255136	0.13476	T	-0.102017	0.63241	T	0.0107099988816602	0.00151	T	0.783822	0.42110	T	0.15419918	0.34914	0.12176654	0.29377	0.15419918	0.34914	0.12176654	0.29376	-4.607	0.32260	T	0.08702335474015384	0.05070	0.108	0.20391	B	.	.	3.766816	0.54085	23.4	0.96812852524452542	0.31195	0.90332	0.51424	D	AEFBI	0.296564	0.40637	N	-0.406180722580298	0.25253	1.369426	-0.157145179363137	0.33134	1.892235	0.999933978369673	0.46732	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	2.183000	0.42195	4.071000	0.41665	0.665000	0.62972	0.647000	0.28146	1.000000	0.68203	0.976000	0.56436	0.0:0.0:0.0:1.0	15.329	0.73896	825	0.40060	EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019348	0.005155	0.009511	0.011834	0.000000	0.034483	0.050314	0.026718	0.07143	353.63	48	chr1	119926524	.	T	C	353.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.322;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.37;ReadPosRankSum=-0.213;SOR=0.576	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1158	6	0	1	0
chr1	120005380	120005380	G	A	exonic	NOTCH2	.	nonsynonymous SNV	NOTCH2:NM_001200001:exon3:c.C364T:p.H122Y,NOTCH2:NM_024408:exon3:c.C364T:p.H122Y	Alagille syndrome 2, Autosomal dominant;Hajdu-Cheney syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.012667475546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.12	0.52389	T	0.86	0.47373	P	0.89	0.63157	P	0.170097	0.17400	U	0.419676	0.850072	0.28509	N	0.7	0.18542	N	0.14	0.60854	T	-1.68	0.40082	N	0.274	0.38335	-0.9200	0.45554	T	0.137	0.45413	T	10	0.27765077	0.45332	T	0.012667	0.31446	T	0.081	0.23632	0.439	0.49321	0.621472958635	0.61840	0.5770514854635852	0.57634	0.943520176759	0.72310	0.398763120174	0.24896	T	0.628008	0.88434	D	-0.0656917	0.42013	T	-0.332138	0.41232	T	0.525653302669525	0.33573	D	0.70223	0.33447	T	0.11151486	0.26353	0.14777727	0.34958	0.11151486	0.26353	0.14777727	0.34957	-7.441	0.57194	T	.	.	0.098	0.38569	B	.;.;.	.;.;.	4.166407	0.62610	24.5	0.99397679118447824	0.62656	0.83165	0.42306	D	AEFBI	0.162128	0.28826	N	0.189161300505492	0.50679	3.25563	0.282105661419061	0.54494	3.614282	0.00134608013175856	0.08462	0.706298	0.61202	0	0.60822	0.50512	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.25	4.3	0.50540	1.307000	0.33121	8.639000	0.77885	0.485000	0.22221	0.945000	0.32849	1.000000	0.68203	0.795000	0.37519	0.0:0.0:0.8362:0.1638	12.710	0.56451	889	0.27310	EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1771.44	33	chr1	120005380	.	G	A	1771.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.646;DP=346;ExcessHet=0;FS=1.24;MLEAC=1;MLEAF=0.071;MQ=57.68;MQRankSum=-0.679;QD=11.14;ReadPosRankSum=-1.255;SOR=0.596	GT:AD:DP:GQ:PL	0/1:83,76:159:99:1782,0,2238	6	0	1	0
chr1	121177294	121177294	C	T	exonic	FAM72B	.	nonsynonymous SNV	FAM72B:NM_001100910:exon3:c.G269A:p.S90N,FAM72B:NM_001320149:exon3:c.G149A:p.S50N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0103264092017	.	.	.	.	.	.	.	.	.	.	.	.	.	rs79611030	0.0004	0.0004	0.0005	0.0004	0.0142	0.0004	0.0004	0.0131	0.0127	0.0142	0.0010	0	0	0	0.0012	1.259e-05	0.0013	0.0001	0.0041	0.0042	0.0043	0.0040	0.0143	0.0039	0.0038	0.0133	0.0130	0.0143	0	0.0018	0	0	0	0	2.94e-05	0.0028	0.0002	0.258	0.16683	T	0.47	0.12740	T	.	.	.	.	.	.	.	.	.	.	0.996827	0.22889	N	.	.	.	1.54	0.30133	T	-1.17	0.29933	N	0.298	0.35408	-1.0000	0.29917	T	0.019	0.08126	T	9	0.015550405	0.00326	T	0.005973	0.15579	T	.	.	0.313	0.28774	0.0482279557977	0.04254	0.17474805135042482	0.17393	.	.	0.358421742916	0.19156	T	0.008802	0.08052	T	-0.279455	0.10726	T	-0.639194	0.09727	T	0.221975878508017	0.21562	T	0.716728	0.35462	T	0.08351049	0.19289	0.08373792	0.19212	0.08351049	0.19289	0.08373792	0.19212	-4.204	0.26809	T	.	.	0.068	0.13503	B	.;.;.;.	.;.;.;.	1.876901	0.23844	16.17	0.84875182636939805	0.15550	0.55184	0.29801	D	AEFI	0.221560	0.34618	N	-0.545882316672471	0.20613	1.087907	-0.408243798328286	0.24755	1.357398	1.863547980584E-5	0.02871	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	4.57	2.33	0.27981	3.081000	0.49818	1.468000	0.26732	0.284000	0.18682	1.000000	0.71638	0.998000	0.33993	0.956000	0.50813	0.0:0.461:0.2806:0.2584	2.743	0.04936	970	0.06235	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1607.44	33	chr1	121177294	.	C	T	1607.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.686;DP=340;ExcessHet=0;FS=2.772;MLEAC=1;MLEAF=0.071;MQ=43.18;MQRankSum=-5.378;QD=9.92;ReadPosRankSum=0.302;SOR=0.96	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr1	121324614	121324614	G	A	exonic	SRGAP2C	.	nonsynonymous SNV	SRGAP2C:NM_001271872:exon4:c.G397A:p.E133K,SRGAP2C:NM_001329984:exon4:c.G397A:p.E133K	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782752093	1.949e-05	2.06e-05	2.244e-05	1.664e-05	0.0006	1.298e-05	1.084e-05	0.0002	8.314e-05	0	0.0001	0	0	0	0.0006	1.168e-05	3.921e-05	3.731e-05	1.981e-05	1.971e-05	3.867e-05	0	0.0001	5.27e-06	2.46e-06	2.275e-05	9.13e-06	0	0	0.0001	0	0	0	0	1.473e-05	0	0	.	.	.	0.033	0.53072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.729	0.73015	.	.	.	.	.	.	.	0.547195	0.64051	D	.	.	.	.	.	.	.	0.146414634003	0.14194	0.5318273945150466	0.53107	.	.	.	.	.	0.132189	0.46212	T	0.0234947	0.54853	T	-0.204028	0.54265	T	.	.	.	0.972603	0.90144	D	0.24644366	0.47614	0.5388122	0.73347	0.24644366	0.47613	0.5388122	0.73348	-13.823	0.92468	D	.	.	0.337	0.55685	B	.	.	5.471586	0.91279	32	0.91252197132773705	0.20510	0.97662	0.76241	D	AEFI	.	.	.	.	.	.	.	.	.	0.955427931843806	0.28188	0.322412	0.05557	0	0.195528	0.04277	0	0.292756	0.05521	0	0.370666	0.05837	0	0.860829	0.52804	3.59	3.59	0.40253	9.699000	0.97950	11.762000	0.95653	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	13.051	0.58364	970	0.06235	F-BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	583.46	71	chr1	121324614	.	G	A	583.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.824;DP=245;ExcessHet=0;FS=1.011;MLEAC=1;MLEAF=0.071;MQ=40.84;MQRankSum=-0.302;QD=8.22;ReadPosRankSum=-1.271;SOR=0.507	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1193	6	0	1	0
chr1	121373974	121373974	A	G	exonic	SRGAP2C	.	nonsynonymous SNV	SRGAP2C:NM_001271872:exon6:c.A490G:p.M164V,SRGAP2C:NM_001329984:exon6:c.A490G:p.M164V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0	0	0.0008	.	.	.	.	7.666e-05	8.747e-05	4.074e-05	0.0001	0.0006	5.799e-05	5.129e-05	0.0005	0.0004	0	0	0	0	0	0	3.294e-06	3.433e-05	0.0006	0	6.621e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.011	0.70582	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.543	0.63713	.	.	.	.	.	.	.	0.24727044	0.42005	T	.	.	.	.	.	.	.	0.137902524267	0.13322	0.5598167328699968	0.55908	.	.	.	.	.	0.213159	0.57440	T	0.00809938	0.52766	T	0.0532928	0.73801	D	.	.	.	0.987268	0.95662	D	0.29551363	0.52500	0.7119626	0.83006	0.29551363	0.52500	0.7119626	0.83007	-10.106	0.74544	D	.	.	0.294	0.55089	B	.;.	.;.	4.576315	0.72255	25.8	0.90638981758437165	0.19891	0.95904	0.66656	D	AEFBIJ	.	.	.	.	.	.	.	.	.	0.0413265680525959	0.14479	0.139865	0.03177	0	0.097471	0.02872	0	0.175069	0.04249	0	0.344016	0.05766	0	0.757117	0.44945	2.35	2.35	0.28166	9.122000	0.93691	11.282000	0.91772	0.359000	0.20063	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	8.251	0.30884	976	0.04745	F-BAR domain;F-BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	491.91	8	chr1	121373974	.	A	G	491.91	.	AC=2;AF=0.167;AN=12;DP=102;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=28.9;QD=24.6;SOR=1.127	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1466	5	1	0	1
chr1	144423045	144423045	C	T	exonic	NBPF15	.	nonsynonymous SNV	NBPF15:NM_001385447:exon16:c.G1756A:p.V586M,NBPF15:NM_001385417:exon17:c.G1981A:p.V661M,NBPF15:NM_001385446:exon17:c.G1756A:p.V586M,NBPF15:NM_001385405:exon18:c.G1981A:p.V661M,NBPF15:NM_001385448:exon18:c.G2065A:p.V689M,NBPF15:NM_001385410:exon19:c.G1981A:p.V661M,NBPF15:NM_001385413:exon19:c.G1981A:p.V661M,NBPF15:NM_001385416:exon19:c.G1981A:p.V661M,NBPF15:NM_001385432:exon19:c.G1981A:p.V661M,NBPF15:NM_001385438:exon19:c.G1981A:p.V661M,NBPF15:NM_001385407:exon20:c.G1981A:p.V661M,NBPF15:NM_001385418:exon20:c.G1981A:p.V661M,NBPF15:NM_001385424:exon20:c.G1981A:p.V661M,NBPF15:NM_001385427:exon20:c.G1981A:p.V661M,NBPF15:NM_001385439:exon20:c.G1981A:p.V661M,NBPF15:NM_001385440:exon20:c.G1981A:p.V661M,NBPF15:NM_001385443:exon20:c.G1870A:p.V624M,NBPF15:NM_001385445:exon20:c.G1870A:p.V624M,NBPF15:NM_001385376:exon21:c.G1981A:p.V661M,NBPF15:NM_001385377:exon21:c.G1981A:p.V661M,NBPF15:NM_001385403:exon21:c.G1981A:p.V661M,NBPF15:NM_001385404:exon21:c.G1981A:p.V661M,NBPF15:NM_001385409:exon21:c.G1981A:p.V661M,NBPF15:NM_001385411:exon21:c.G1981A:p.V661M,NBPF15:NM_001385414:exon21:c.G1981A:p.V661M,NBPF15:NM_001385441:exon21:c.G1981A:p.V661M,NBPF15:NM_173638:exon21:c.G1981A:p.V661M,NBPF15:NM_001385373:exon22:c.G1981A:p.V661M,NBPF15:NM_001385374:exon22:c.G1981A:p.V661M,NBPF15:NM_001385375:exon22:c.G1981A:p.V661M,NBPF15:NM_001385408:exon22:c.G1981A:p.V661M,NBPF15:NM_001385412:exon22:c.G1981A:p.V661M,NBPF15:NM_001385415:exon22:c.G1981A:p.V661M,NBPF15:NM_001385420:exon22:c.G1981A:p.V661M,NBPF15:NM_001385423:exon22:c.G1981A:p.V661M,NBPF15:NM_001385430:exon22:c.G1981A:p.V661M,NBPF15:NM_001385431:exon22:c.G1981A:p.V661M,NBPF15:NM_001385433:exon22:c.G1981A:p.V661M,NBPF15:NM_001385434:exon22:c.G1981A:p.V661M,NBPF15:NM_001385436:exon22:c.G1981A:p.V661M,NBPF15:NM_001385442:exon22:c.G1870A:p.V624M,NBPF15:NM_001385444:exon22:c.G1870A:p.V624M,NBPF15:NM_001385378:exon23:c.G1981A:p.V661M,NBPF15:NM_001385406:exon23:c.G1981A:p.V661M,NBPF15:NM_001385419:exon23:c.G1981A:p.V661M,NBPF15:NM_001385421:exon23:c.G1981A:p.V661M,NBPF15:NM_001385422:exon23:c.G1981A:p.V661M,NBPF15:NM_001385425:exon23:c.G1981A:p.V661M,NBPF15:NM_001385428:exon23:c.G1981A:p.V661M,NBPF15:NM_001385429:exon23:c.G1981A:p.V661M,NBPF15:NM_001385435:exon23:c.G1981A:p.V661M,NBPF15:NM_001385437:exon23:c.G1981A:p.V661M,NBPF15:NM_001170755:exon24:c.G1981A:p.V661M,NBPF15:NM_001385426:exon24:c.G1981A:p.V661M	.	483	1034	5	0	0	5	0.00241196	.	.	.	2678386	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.000298833114301	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782739043	9.592e-05	9.578e-05	8.317e-05	0.0001	0.0012	8.255e-05	7.795e-05	0.0005	0.0003	8.981e-05	2.237e-05	0	0	0	0.0012	7.287e-05	0.0001	0.0005	8.554e-05	8.539e-05	2.572e-05	0.0001	0.0004	4.964e-05	3.968e-05	7.293e-05	3.057e-05	0.0001	0	0	0	0	0	0	8.826e-05	0	0.0004	.	.	.	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.83	0.03702	T	.	.	.	0.277	0.31365	.	.	.	.	.	.	.	0.14481494	0.27478	T	.	.	.	.	.	.	.	.	.	0.018304748200353018	0.01784	.	.	.	.	.	0.027936	0.20347	T	.	.	.	.	.	.	.	.	.	0.828817	0.49341	T	.	.	.	.	.	.	.	.	-4.447	0.30189	T	.	.	0.328	0.55096	B	.;.;.	.;.;.	1.741536	0.22157	15.51	.	.	.	.	.	.	0.019378	0.00667	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.925000	0.28392	-1.890000	0.04545	0.281000	0.18624	0.016000	0.19238	0.000000	0.08366	0.003000	0.05239	.	.	.	.	.	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2576.46	40	chr1	144423045	.	C	T	2576.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.05;DP=401;ExcessHet=0;FS=3.161;MLEAC=1;MLEAF=0.071;MQ=53.28;MQRankSum=-0.478;QD=12.45;ReadPosRankSum=-0.796;SOR=0.504	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	6	0	1	0
chr1	144423956	144423956	C	A	exonic	NBPF15	.	nonsynonymous SNV	NBPF15:NM_001385447:exon15:c.G1458T:p.K486N,NBPF15:NM_001385417:exon16:c.G1683T:p.K561N,NBPF15:NM_001385446:exon16:c.G1458T:p.K486N,NBPF15:NM_001385405:exon17:c.G1683T:p.K561N,NBPF15:NM_001385448:exon17:c.G1767T:p.K589N,NBPF15:NM_001385410:exon18:c.G1683T:p.K561N,NBPF15:NM_001385413:exon18:c.G1683T:p.K561N,NBPF15:NM_001385416:exon18:c.G1683T:p.K561N,NBPF15:NM_001385432:exon18:c.G1683T:p.K561N,NBPF15:NM_001385438:exon18:c.G1683T:p.K561N,NBPF15:NM_001385407:exon19:c.G1683T:p.K561N,NBPF15:NM_001385418:exon19:c.G1683T:p.K561N,NBPF15:NM_001385424:exon19:c.G1683T:p.K561N,NBPF15:NM_001385427:exon19:c.G1683T:p.K561N,NBPF15:NM_001385439:exon19:c.G1683T:p.K561N,NBPF15:NM_001385440:exon19:c.G1683T:p.K561N,NBPF15:NM_001385443:exon19:c.G1572T:p.K524N,NBPF15:NM_001385445:exon19:c.G1572T:p.K524N,NBPF15:NM_001385376:exon20:c.G1683T:p.K561N,NBPF15:NM_001385377:exon20:c.G1683T:p.K561N,NBPF15:NM_001385403:exon20:c.G1683T:p.K561N,NBPF15:NM_001385404:exon20:c.G1683T:p.K561N,NBPF15:NM_001385409:exon20:c.G1683T:p.K561N,NBPF15:NM_001385411:exon20:c.G1683T:p.K561N,NBPF15:NM_001385414:exon20:c.G1683T:p.K561N,NBPF15:NM_001385441:exon20:c.G1683T:p.K561N,NBPF15:NM_173638:exon20:c.G1683T:p.K561N,NBPF15:NM_001385373:exon21:c.G1683T:p.K561N,NBPF15:NM_001385374:exon21:c.G1683T:p.K561N,NBPF15:NM_001385375:exon21:c.G1683T:p.K561N,NBPF15:NM_001385408:exon21:c.G1683T:p.K561N,NBPF15:NM_001385412:exon21:c.G1683T:p.K561N,NBPF15:NM_001385415:exon21:c.G1683T:p.K561N,NBPF15:NM_001385420:exon21:c.G1683T:p.K561N,NBPF15:NM_001385423:exon21:c.G1683T:p.K561N,NBPF15:NM_001385430:exon21:c.G1683T:p.K561N,NBPF15:NM_001385431:exon21:c.G1683T:p.K561N,NBPF15:NM_001385433:exon21:c.G1683T:p.K561N,NBPF15:NM_001385434:exon21:c.G1683T:p.K561N,NBPF15:NM_001385436:exon21:c.G1683T:p.K561N,NBPF15:NM_001385442:exon21:c.G1572T:p.K524N,NBPF15:NM_001385444:exon21:c.G1572T:p.K524N,NBPF15:NM_001385378:exon22:c.G1683T:p.K561N,NBPF15:NM_001385406:exon22:c.G1683T:p.K561N,NBPF15:NM_001385419:exon22:c.G1683T:p.K561N,NBPF15:NM_001385421:exon22:c.G1683T:p.K561N,NBPF15:NM_001385422:exon22:c.G1683T:p.K561N,NBPF15:NM_001385425:exon22:c.G1683T:p.K561N,NBPF15:NM_001385428:exon22:c.G1683T:p.K561N,NBPF15:NM_001385429:exon22:c.G1683T:p.K561N,NBPF15:NM_001385435:exon22:c.G1683T:p.K561N,NBPF15:NM_001385437:exon22:c.G1683T:p.K561N,NBPF15:NM_001170755:exon23:c.G1683T:p.K561N,NBPF15:NM_001385426:exon23:c.G1683T:p.K561N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00141525601356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.21e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84	0.03675	T	.	.	.	0.108	0.10056	.	.	.	.	.	.	.	0.1027112	0.18840	T	.	.	.	.	.	.	.	.	.	0.002413483957970472	0.00224	.	.	.	.	.	0.022522	0.17347	T	.	.	.	.	.	.	.	.	.	0.886611	0.61335	D	.	.	.	.	.	.	.	.	-7.022	0.54194	T	.	.	0.376	0.58191	A	.;.;.	.;.;.	1.044668	0.14254	10.83	.	.	.	.	.	.	0.028810	0.02606	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382000	0.20364	-1.061000	0.06451	0.084000	0.17577	0.002000	0.15269	0.000000	0.08366	0.189000	0.21571	.	.	.	.	.	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	768.49	39	chr1	144423956	.	C	A	768.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.425;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=54.7;MQRankSum=-0.39;QD=14.5;ReadPosRankSum=-0.018;SOR=0.732	GT:AD:DP:GQ:PL	0/0:29,0:29:81:0,81,1052	6	0	1	0
chr1	144436988	144436988	C	A	exonic	NBPF15	.	nonsynonymous SNV	NBPF15:NM_001385417:exon5:c.G400T:p.D134Y,NBPF15:NM_001385448:exon5:c.G400T:p.D134Y,NBPF15:NM_001385405:exon6:c.G400T:p.D134Y,NBPF15:NM_001385447:exon6:c.G400T:p.D134Y,NBPF15:NM_001385410:exon7:c.G400T:p.D134Y,NBPF15:NM_001385413:exon7:c.G400T:p.D134Y,NBPF15:NM_001385416:exon7:c.G400T:p.D134Y,NBPF15:NM_001385432:exon7:c.G400T:p.D134Y,NBPF15:NM_001385438:exon7:c.G400T:p.D134Y,NBPF15:NM_001385446:exon7:c.G400T:p.D134Y,NBPF15:NM_001385407:exon8:c.G400T:p.D134Y,NBPF15:NM_001385418:exon8:c.G400T:p.D134Y,NBPF15:NM_001385424:exon8:c.G400T:p.D134Y,NBPF15:NM_001385427:exon8:c.G400T:p.D134Y,NBPF15:NM_001385439:exon8:c.G400T:p.D134Y,NBPF15:NM_001385440:exon8:c.G400T:p.D134Y,NBPF15:NM_001385443:exon8:c.G400T:p.D134Y,NBPF15:NM_001385445:exon8:c.G400T:p.D134Y,NBPF15:NM_001385376:exon9:c.G400T:p.D134Y,NBPF15:NM_001385377:exon9:c.G400T:p.D134Y,NBPF15:NM_001385403:exon9:c.G400T:p.D134Y,NBPF15:NM_001385404:exon9:c.G400T:p.D134Y,NBPF15:NM_001385409:exon9:c.G400T:p.D134Y,NBPF15:NM_001385411:exon9:c.G400T:p.D134Y,NBPF15:NM_001385414:exon9:c.G400T:p.D134Y,NBPF15:NM_001385441:exon9:c.G400T:p.D134Y,NBPF15:NM_173638:exon9:c.G400T:p.D134Y,NBPF15:NM_001385373:exon10:c.G400T:p.D134Y,NBPF15:NM_001385374:exon10:c.G400T:p.D134Y,NBPF15:NM_001385375:exon10:c.G400T:p.D134Y,NBPF15:NM_001385408:exon10:c.G400T:p.D134Y,NBPF15:NM_001385412:exon10:c.G400T:p.D134Y,NBPF15:NM_001385415:exon10:c.G400T:p.D134Y,NBPF15:NM_001385420:exon10:c.G400T:p.D134Y,NBPF15:NM_001385423:exon10:c.G400T:p.D134Y,NBPF15:NM_001385430:exon10:c.G400T:p.D134Y,NBPF15:NM_001385431:exon10:c.G400T:p.D134Y,NBPF15:NM_001385433:exon10:c.G400T:p.D134Y,NBPF15:NM_001385434:exon10:c.G400T:p.D134Y,NBPF15:NM_001385436:exon10:c.G400T:p.D134Y,NBPF15:NM_001385442:exon10:c.G400T:p.D134Y,NBPF15:NM_001385444:exon10:c.G400T:p.D134Y,NBPF15:NM_001385378:exon11:c.G400T:p.D134Y,NBPF15:NM_001385406:exon11:c.G400T:p.D134Y,NBPF15:NM_001385419:exon11:c.G400T:p.D134Y,NBPF15:NM_001385421:exon11:c.G400T:p.D134Y,NBPF15:NM_001385422:exon11:c.G400T:p.D134Y,NBPF15:NM_001385425:exon11:c.G400T:p.D134Y,NBPF15:NM_001385428:exon11:c.G400T:p.D134Y,NBPF15:NM_001385429:exon11:c.G400T:p.D134Y,NBPF15:NM_001385435:exon11:c.G400T:p.D134Y,NBPF15:NM_001385437:exon11:c.G400T:p.D134Y,NBPF15:NM_001170755:exon12:c.G400T:p.D134Y,NBPF15:NM_001385426:exon12:c.G400T:p.D134Y	.	421	1019	82	0	0	82	0.0386792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.00173396275964	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380003639	6.67e-05	0.0008	3.836e-05	9.469e-05	0.0002	5.505e-05	5.067e-05	5.739e-05	5.275e-05	6.954e-05	2.266e-05	0	7.861e-05	9.577e-05	0.0002	7.186e-05	1.878e-05	4.901e-05	8.14e-05	0.0010	7.933e-05	8.359e-05	0.0004	4.632e-05	3.619e-05	7.758e-05	3.166e-05	0.0001	0	6.769e-05	0	0	0	0	7.498e-05	0	0.0004	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.05	0.03092	T	.	.	.	0.247	0.27910	.	.	.	.	.	.	.	0.16393486	0.30683	T	.	.	.	.	.	.	.	.	.	0.03106088496578435	0.03055	.	.	.	.	.	0.233658	0.60051	T	.	.	.	.	.	.	.	.	.	0.712529	0.32403	T	.	.	.	.	.	.	.	.	-10.07	0.74330	D	.	.	0.173	0.40618	B	.;.;.	.;.;.	0.956282	0.13325	9.829	.	.	.	.	.	.	0.027387	0.02229	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.053000	0.11802	-20.000000	0.00162	0.201000	0.17923	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	59.24	34	chr1	144436988	.	C	A	59.24	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.97;DP=506;ExcessHet=0;FS=29.026;MLEAC=1;MLEAF=0.083;MQ=37.26;MQRankSum=-4.608;QD=0.42;ReadPosRankSum=-2.15;SOR=3.952	GT:AD:DP:GQ:PL	./.:177,0:177:0:0,0,4501	5	0	1	1
chr1	144437999	144437999	C	T	exonic	NBPF15	.	nonsynonymous SNV	NBPF15:NM_001385417:exon4:c.G224A:p.R75Q,NBPF15:NM_001385448:exon4:c.G224A:p.R75Q,NBPF15:NM_001385405:exon5:c.G224A:p.R75Q,NBPF15:NM_001385447:exon5:c.G224A:p.R75Q,NBPF15:NM_001385410:exon6:c.G224A:p.R75Q,NBPF15:NM_001385413:exon6:c.G224A:p.R75Q,NBPF15:NM_001385416:exon6:c.G224A:p.R75Q,NBPF15:NM_001385432:exon6:c.G224A:p.R75Q,NBPF15:NM_001385438:exon6:c.G224A:p.R75Q,NBPF15:NM_001385446:exon6:c.G224A:p.R75Q,NBPF15:NM_001385407:exon7:c.G224A:p.R75Q,NBPF15:NM_001385418:exon7:c.G224A:p.R75Q,NBPF15:NM_001385424:exon7:c.G224A:p.R75Q,NBPF15:NM_001385427:exon7:c.G224A:p.R75Q,NBPF15:NM_001385439:exon7:c.G224A:p.R75Q,NBPF15:NM_001385440:exon7:c.G224A:p.R75Q,NBPF15:NM_001385443:exon7:c.G224A:p.R75Q,NBPF15:NM_001385445:exon7:c.G224A:p.R75Q,NBPF15:NM_001385376:exon8:c.G224A:p.R75Q,NBPF15:NM_001385377:exon8:c.G224A:p.R75Q,NBPF15:NM_001385403:exon8:c.G224A:p.R75Q,NBPF15:NM_001385404:exon8:c.G224A:p.R75Q,NBPF15:NM_001385409:exon8:c.G224A:p.R75Q,NBPF15:NM_001385411:exon8:c.G224A:p.R75Q,NBPF15:NM_001385414:exon8:c.G224A:p.R75Q,NBPF15:NM_001385441:exon8:c.G224A:p.R75Q,NBPF15:NM_173638:exon8:c.G224A:p.R75Q,NBPF15:NM_001385373:exon9:c.G224A:p.R75Q,NBPF15:NM_001385374:exon9:c.G224A:p.R75Q,NBPF15:NM_001385375:exon9:c.G224A:p.R75Q,NBPF15:NM_001385408:exon9:c.G224A:p.R75Q,NBPF15:NM_001385412:exon9:c.G224A:p.R75Q,NBPF15:NM_001385415:exon9:c.G224A:p.R75Q,NBPF15:NM_001385420:exon9:c.G224A:p.R75Q,NBPF15:NM_001385423:exon9:c.G224A:p.R75Q,NBPF15:NM_001385430:exon9:c.G224A:p.R75Q,NBPF15:NM_001385431:exon9:c.G224A:p.R75Q,NBPF15:NM_001385433:exon9:c.G224A:p.R75Q,NBPF15:NM_001385434:exon9:c.G224A:p.R75Q,NBPF15:NM_001385436:exon9:c.G224A:p.R75Q,NBPF15:NM_001385442:exon9:c.G224A:p.R75Q,NBPF15:NM_001385444:exon9:c.G224A:p.R75Q,NBPF15:NM_001385378:exon10:c.G224A:p.R75Q,NBPF15:NM_001385406:exon10:c.G224A:p.R75Q,NBPF15:NM_001385419:exon10:c.G224A:p.R75Q,NBPF15:NM_001385421:exon10:c.G224A:p.R75Q,NBPF15:NM_001385422:exon10:c.G224A:p.R75Q,NBPF15:NM_001385425:exon10:c.G224A:p.R75Q,NBPF15:NM_001385428:exon10:c.G224A:p.R75Q,NBPF15:NM_001385429:exon10:c.G224A:p.R75Q,NBPF15:NM_001385435:exon10:c.G224A:p.R75Q,NBPF15:NM_001385437:exon10:c.G224A:p.R75Q,NBPF15:NM_001170755:exon11:c.G224A:p.R75Q,NBPF15:NM_001385426:exon11:c.G224A:p.R75Q	.	386	1112	21	0	3	24	0.00935412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200795677	0.0042	0.0042	0.0040	0.0044	0.0120	0.0041	0.0041	0.0114	0.0112	0.0006	0.0020	0.0041	7.557e-05	0.0006	0.0076	0.0041	0.0047	0.0120	0.0030	0.0031	0.0031	0.0030	0.0131	0.0028	0.0027	0.0105	0.0096	0.0010	0	0.0023	0.0023	0.0004	0.0006	0.0136	0.0043	0.0057	0.0131	.	.	.	0.432	0.13634	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.15	0.02815	T	.	.	.	0.164	0.17278	.	.	.	.	.	.	.	0.007454425	0.00169	T	.	.	.	.	.	.	.	.	.	0.00852235615899739	0.00816	.	.	.	.	.	0.025104	0.18839	T	.	.	.	.	.	.	.	.	.	0.649135	0.25986	T	.	.	.	.	.	.	.	.	-3.62	0.18147	T	.	.	0.116	0.26576	B	.;.;.	.;.;.	0.374033	0.07463	4.099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361000	0.07664	-4.080000	0.02354	-0.973000	0.01932	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2905.44	41	chr1	144437999	.	C	T	2905.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.894;DP=466;ExcessHet=0;FS=0.459;MLEAC=1;MLEAF=0.071;MQ=43.42;MQRankSum=-0.602;QD=11.53;ReadPosRankSum=1.54;SOR=0.751	GT:AD:DP:GQ:PL	0/1:121,131:252:99:2916,0,2586	6	0	1	0
chr1	145673685	145673685	C	T	exonic	PDZK1	.	nonsynonymous SNV	PDZK1:NM_001201326:exon5:c.G854A:p.R285Q,PDZK1:NM_001371361:exon6:c.G566A:p.R189Q,PDZK1:NM_001201325:exon7:c.G1187A:p.R396Q,PDZK1:NM_001371359:exon7:c.G1187A:p.R396Q,PDZK1:NM_002614:exon8:c.G1187A:p.R396Q	.	.	.	.	.	.	.	.	.	.	.	3579315	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.030	0.00386346435616	.	.	.	.	.	.	.	.	.	.	.	.	.	rs587733119	2.406e-05	2.394e-05	2.326e-05	2.487e-05	0.0004	1.747e-05	1.546e-05	0.0003	0.0002	0.0004	0	0	0	0	0	1.354e-05	3.333e-05	4.672e-05	0.0001	0.0001	0.0001	8.305e-05	0.0003	6.659e-05	5.442e-05	0.0002	0.0002	0.0003	0	0	0	0	0	0	2.976e-05	0	0	0.352	0.12226	T	0.276	0.21947	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.76	0.25996	T	-0.1	0.08495	N	0.078	0.05287	.	.	.	.	.	.	.	0.04596281	0.03730	T	.	.	.	.	.	.	.	.	.	0.2650578343511459	0.26418	.	.	.	.	.	0.053473	0.29454	T	.	.	.	.	.	.	.	.	.	0.720928	0.33404	T	.	.	.	.	.	.	.	.	-4.261	0.27627	T	.	.	0.066	0.02458	B	.;.;.	.;.;.	0.861451	0.12337	8.878	.	.	.	.	.	.	0.097336	0.19635	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.124000	0.10571	-7.907000	0.01064	0.304000	0.19002	0.814000	0.29906	0.000000	0.08366	0.989000	0.64315	.	.	.	272	0.89337	.;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	310.53	20	chr1	145673685	.	C	T	310.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.12;DP=177;ExcessHet=0;FS=1.346;MLEAC=1;MLEAF=0.071;MQ=40.2;MQRankSum=-1.182;QD=7.96;ReadPosRankSum=0.601;SOR=0.984	GT:AD:DP:GQ:PL	0/1:25,14:39:99:321,0,607	6	0	1	0
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P,ANKRD35:NM_144698:exon10:c.G2056C:p.A686P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.635e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.59037	T	-1.95	0.45222	N	0.526	0.55540	.	.	.	.	.	.	.	0.42498738	0.57114	T	.	.	.	.	.	.	.	.	.	0.8187195895967326	0.81828	.	.	.	.	.	0.082225	0.36779	T	.	.	.	.	.	.	.	.	.	0.812719	0.46458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.77826	P	.;.	.;.	3.961182	0.58095	23.9	.	.	.	.	.	.	0.492730	0.52925	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132000	0.41706	4.040000	0.41416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	176.91	63	chr1	145872713	.	C	G	176.91	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.334;DP=628;ExcessHet=1.383;FS=138.631;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=0.289;SOR=9.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:128,24:152:58:0|1:145872713_C_G:0,58,3791:145872713	3	0	3	1
chr1	145872714	145872714	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1785C:p.E595D,ANKRD35:NM_144698:exon10:c.G2055C:p.E685D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.069	0.43913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.57419	T	-1.48	0.36189	N	0.138	0.13626	.	.	.	.	.	.	.	0.13870499	0.26377	T	.	.	.	.	.	.	.	.	.	0.4799690801717402	0.47916	.	.	.	.	.	0.054385	0.29709	T	.	.	.	.	.	.	.	.	.	0.768923	0.39853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.42763	B	.;.	.;.	3.406129	0.47225	22.4	.	.	.	.	.	.	0.196541	0.32351	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344000	0.19703	1.359000	0.25866	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.977000	0.56843	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	245.64	63	chr1	145872714	.	C	G	245.64	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-4.041;DP=635;ExcessHet=2.5225;FS=134.218;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=0.65;ReadPosRankSum=-0.141;SOR=9.17	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:128,24:152:58:0|1:145872713_C_G:0,58,3791:145872713	3	0	4	0
chr1	146083817	146083817	A	C	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon68:c.T8534G:p.L2845R,NBPF10:NM_001302371:exon68:c.T8534G:p.L2845R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000230756643374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.245e-05	2.862e-05	0	2.619e-05	3.268e-05	0	0	.	.	3.268e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.31590	.	.	.	.	.	.	.	0.14583984	0.27659	T	.	.	.	.	.	.	.	.	.	0.008892907154336088	0.00852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.694431	0.35069	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.78576	P	.;.	.;.	0.917127	0.12921	9.427	.	.	.	.	.	.	0.035294	0.04519	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.970000	0.03919	-0.417000	0.09309	0.179000	0.17797	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	.	.	.	958	0.09170	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	65.35	1	chr1	146083817	.	A	C	65.35	.	AC=1;AF=0.125;AN=8;BaseQRankSum=2.14;DP=23;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=34.19;MQRankSum=0.893;QD=4.08;ReadPosRankSum=1.96;SOR=0.078	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,33	3	0	1	3
chr1	147276111	147276111	-	AAGTTATT	exonic	CHD1L	.	frameshift insertion	CHD1L:NM_001256338:exon8:c.781_782insAAGTTATT:p.R264Kfs*5,CHD1L:NM_001256337:exon9:c.550_551insAAGTTATT:p.R187Kfs*5,CHD1L:NM_001348454:exon9:c.937_938insAAGTTATT:p.R316Kfs*5,CHD1L:NM_001348456:exon9:c.550_551insAAGTTATT:p.R187Kfs*5,CHD1L:NM_001348463:exon10:c.550_551insAAGTTATT:p.R187Kfs*5,CHD1L:NM_001348466:exon10:c.550_551insAAGTTATT:p.R187Kfs*5,CHD1L:NM_001348459:exon12:c.550_551insAAGTTATT:p.R187Kfs*5,CHD1L:NM_001348461:exon12:c.550_551insAAGTTATT:p.R187Kfs*5,CHD1L:NM_001348464:exon12:c.550_551insAAGTTATT:p.R187Kfs*5,CHD1L:NM_001256336:exon13:c.1093_1094insAAGTTATT:p.R368Kfs*5,CHD1L:NM_001348453:exon13:c.1054_1055insAAGTTATT:p.R355Kfs*5,CHD1L:NM_001348455:exon13:c.904_905insAAGTTATT:p.R305Kfs*5,CHD1L:NM_001348457:exon13:c.550_551insAAGTTATT:p.R187Kfs*5,CHD1L:NM_001348458:exon13:c.550_551insAAGTTATT:p.R187Kfs*5,CHD1L:NM_001348460:exon13:c.550_551insAAGTTATT:p.R187Kfs*5,CHD1L:NM_001348465:exon13:c.550_551insAAGTTATT:p.R187Kfs*5,CHD1L:NM_001348452:exon14:c.1177_1178insAAGTTATT:p.R396Kfs*5,CHD1L:NM_001348462:exon14:c.550_551insAAGTTATT:p.R187Kfs*5,CHD1L:NM_004284:exon14:c.1393_1394insAAGTTATT:p.R468Kfs*5,CHD1L:NM_024568:exon14:c.1054_1055insAAGTTATT:p.R355Kfs*5,CHD1L:NM_001348451:exon15:c.1177_1178insAAGTTATT:p.R396Kfs*5	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.605e-05	0	0	0	0	3.002e-05	0	0.0004	5.17e-05	8	154602	rs782715316	6.567e-05	6.704e-05	5.717e-05	7.426e-05	0.0003	5.495e-05	5.107e-05	0.0002	0.0002	2.987e-05	0	0	0	0	0.0002	5.846e-05	6.623e-05	0.0003	5.256e-05	5.253e-05	6.422e-05	4.035e-05	0.0004	2.557e-05	1.83e-05	7.293e-05	3.03e-05	2.413e-05	0	0	0	0	0	0	7.349e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1878.59	33	chr1	147276111	.	A	AAAGTTATT	1878.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.462;DP=257;ExcessHet=0;FS=1.798;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=22.63;ReadPosRankSum=1.79;SOR=0.822	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1164	6	0	1	0
chr1	148105418	148105418	G	A	exonic	NBPF11	.	nonsynonymous SNV	NBPF11:NM_001385468:exon21:c.C2414T:p.T805M,NBPF11:NM_001385470:exon21:c.C2414T:p.T805M,NBPF11:NM_001385477:exon21:c.C2189T:p.T730M,NBPF11:NM_001385480:exon21:c.C2189T:p.T730M,NBPF11:NM_001101663:exon22:c.C2414T:p.T805M,NBPF11:NM_001385469:exon22:c.C2414T:p.T805M,NBPF11:NM_001385475:exon22:c.C2414T:p.T805M,NBPF11:NM_001385479:exon22:c.C2189T:p.T730M,NBPF11:NM_183372:exon22:c.C2414T:p.T805M,NBPF11:NM_001385471:exon23:c.C2414T:p.T805M,NBPF11:NM_001385474:exon23:c.C2414T:p.T805M,NBPF11:NM_001385478:exon23:c.C2189T:p.T730M,NBPF11:NM_001385472:exon24:c.C2414T:p.T805M,NBPF11:NM_001385473:exon24:c.C2414T:p.T805M,NBPF11:NM_001385476:exon24:c.C2414T:p.T805M	.	437	1075	10	0	0	10	0.00462963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0016884778934	.	.	0	0	.	0	.	0	.	.	.	.	.	rs782314753	0.0028	0.0024	0.0028	0.0028	0.0033	0.0027	0.0027	0.0029	0.0027	0.0005	0.0033	0.0168	0.0012	0.0013	0.0024	0.0025	0.0047	0.0019	0.0049	0.0048	0.0050	0.0047	0.0081	0.0046	0.0044	0.0070	0.0065	0.0013	0.0338	0.0081	0.0258	0.0024	0.0012	0.0035	0.0055	0.0076	0.0015	.	.	.	0.052	0.49120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	.	.	.	0.092	0.07125	-0.9294	0.44227	T	0.002	0.00707	T	8	0.004490465	0.00092	T	0.001688	0.02805	T	.	.	.	.	.	.	0.01701020210562973	0.01656	.	.	.	.	.	0.002227	0.01623	T	-0.61302	0.00121	T	-0.645375	0.09281	T	0.00205499412097249	0.00021	T	0.30177	0.05696	T	0.026424073	0.01698	0.084121	0.19328	0.026424073	0.01698	0.084121	0.19328	-4.559	0.31652	T	.	.	0.121	0.31683	B	.;.;.;.	.;.;.;.	1.414491	0.18301	13.66	0.15723905153775802	0.00395	0.00016	0.00195	N	AEFI	0.015982	0.00332	N	-2.0209091678213	0.00191	0.008172268	-2.13315060730951	0.00158	0.006936364	1.85407519951099E-4	0.05844	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.118	-0.237	0.12417	-2.765000	0.00853	-20.000000	0.00162	-2.236000	0.00342	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	256.44	18	chr1	148105418	.	G	A	256.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.325;DP=194;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=48.73;MQRankSum=-4.064;QD=8.01;ReadPosRankSum=0.361;SOR=0.512	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,970:.	6	0	1	0
chr1	148533164	148533164	G	C	exonic	NBPF14	.	stopgain	NBPF14:NM_015383:exon66:c.C8301G:p.Y2767X	.	792	726	4	0	0	4	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.307e-05	0	0	0	0	4.497e-05	0	6.056e-05	.	.	.	rs1461452258	0.0016	0.0012	0.0015	0.0016	0.0194	0.0015	0.0015	0.0149	0.0133	0.0014	0.0036	0.0072	0	3.319e-05	0.0194	0.0013	0.0031	0.0013	0.0017	0.0016	0.0015	0.0019	0.0027	0.0015	0.0014	0.0017	0.0014	0.0008	0	0.0027	0.0052	0	0	0.0282	0.0017	0.0118	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999925	0.54805	D	.	.	.	.	.	.	.	.	.	0.193	0.34228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203067	0.74179	D	0.117561	0.78073	D	0.748487114906311	0.43201	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	5.803417	0.93624	33	0.90715762551554557	0.19965	0.00100	0.00648	N	AEFI	0.021612	0.00982	N	-0.37309071805878	0.26432	1.442484	-0.82933629948695	0.13786	0.7170012	4.46773967751996E-5	0.03989	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	0.445	-0.891	0.10038	0.914000	0.28246	-12.751000	0.00503	0.222000	0.18087	0.004000	0.16614	0.000000	0.08366	0.013000	0.09966	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	35.1	5	chr1	148533164	.	G	C	35.1	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.674;DP=38;ExcessHet=0;FS=3.332;MLEAC=1;MLEAF=0.071;MQ=28.09;MQRankSum=0.319;QD=4.39;ReadPosRankSum=0;SOR=0.105	GT:AD:DP:GQ:PL	0/0:6,0:6:18:0,18,206	6	0	1	0
chr1	148536236	148536236	C	G	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon62:c.G7870C:p.V2624L	.	768	752	2	0	0	2	0.00132802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.000202918164534	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1326015124	7.289e-06	5.884e-05	0	1.39e-05	8.832e-05	1.94e-06	5.4e-07	1.35e-06	5e-07	8.832e-05	0	0	0	0	0	8.091e-06	0	0	5.839e-05	0.0007	6.364e-05	5.26e-05	8.593e-05	2.723e-05	1.857e-05	1.422e-05	6.94e-06	6.14e-05	0	8.593e-05	0.0004	0	0	0	5.359e-05	0	0	.	.	.	0.145	0.33000	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.06454	.	.	.	.	.	.	.	0.07608476	0.11842	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.665133	0.27420	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.56038	A	.;.	.;.	-0.083278	0.03741	0.775	.	.	.	.	.	.	0.020561	0.00824	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.445000	0.06918	-11.249000	0.00621	0.078000	0.17572	0.982000	0.35529	0.000000	0.08366	0.462000	0.28163	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	54.16	10	chr1	148536236	.	C	G	54.16	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-2.2;DP=77;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=24;MQRankSum=0.862;QD=6.02;ReadPosRankSum=-2.2;SOR=0.132	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,2:9:63:0|1:148536236_C_G:63,0,288:148536236	4	0	1	2
chr1	148536239	148536239	C	T	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon62:c.G7867A:p.A2623T	.	766	754	2	0	0	2	0.0013245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.000115807786078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.089e-06	6.839e-05	0	1.352e-05	8.483e-05	1.89e-06	5.2e-07	1.32e-06	5e-07	8.483e-05	0	0	0	0	0	7.945e-06	0	0	4.78e-05	0.0007	4.566e-05	5.014e-05	8.065e-05	2.016e-05	1.326e-05	1.388e-05	6.85e-06	5.788e-05	0	8.065e-05	0	0	0	0	5.228e-05	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.20395	.	.	.	.	.	.	.	0.1079652	0.20077	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524848	0.17228	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.686	0.72392	P	.;.	.;.	2.158191	0.27497	17.48	.	.	.	.	.	.	0.021844	0.01021	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.524000	0.06309	-5.185000	0.01815	0.078000	0.17572	0.977000	0.34929	0.000000	0.08366	0.451000	0.27917	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	54.16	10	chr1	148536239	.	C	T	54.16	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-2.2;DP=76;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=24;MQRankSum=0.862;QD=6.02;ReadPosRankSum=-2.2;SOR=0.132	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,2:9:63:0|1:148536236_C_G:63,0,288:148536236	4	0	1	2
chr1	148559889	148559889	A	G	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon32:c.T4126C:p.S1376P	.	464	1036	17	5	0	27	0.0128633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00123649756997	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1174000010	0.0046	0.0047	0.0046	0.0047	0.0168	0.0045	0.0045	0.0134	0.0121	0.0014	0.0043	0.0105	2.864e-05	0.0004	0.0168	0.0052	0.0057	0.0010	0.0039	0.0041	0.0041	0.0037	0.0055	0.0036	0.0035	0.0051	0.0049	0.0013	0.0044	0.0045	0.0111	0	0	0.0211	0.0055	0.0060	0.0007	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	0.22098	.	.	.	.	.	.	.	0.01586628	0.00333	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.615438	0.23533	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.559	0.67187	A	.;.	.;.	1.206891	0.15994	12.25	.	.	.	.	.	.	0.051782	0.09182	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.954000	0.28772	0.364000	0.17606	0.177000	0.17786	0.009000	0.18154	0.000000	0.08366	0.003000	0.05239	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1291.32	49	chr1	148559889	.	A	G	1291.32	.	AC=2;AF=0.143;AN=14;DP=226;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=59.44;QD=26.35;SOR=0.909	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1196	6	1	0	0
chr1	148559936	148559936	C	A	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon32:c.G4079T:p.G1360V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1198993033	7.255e-06	2.03e-05	6.512e-06	7.984e-06	1.315e-05	3.41e-06	2.47e-06	3.68e-06	2.66e-06	0	0	0	0	0	0	8.555e-06	0	1.315e-05	7.279e-06	1.374e-05	1.422e-05	0	1.484e-05	0	0	.	.	0	0	0	0	0	0	0	1.484e-05	0	0	.	.	.	0.121	0.58089	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.11340	.	.	.	.	.	.	.	0.080146044	0.12975	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.950005	0.81652	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.514	0.65207	A	.;.	.;.	-0.176812	0.03212	0.534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.744000	0.01931	-1.884000	0.04555	-1.283000	0.01266	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1135.83	32	chr1	148559936	.	C	A	1135.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.981;DP=287;ExcessHet=0;FS=0.714;MLEAC=1;MLEAF=0.071;MQ=59.17;MQRankSum=0.172;QD=10.42;ReadPosRankSum=-0.238;SOR=0.779	GT:AD:DP:GQ:PL	0/1:60,49:109:99:1146,0,1358	6	0	1	0
chr1	148953687	148953687	A	C	exonic	PDE4DIP	.	nonsynonymous SNV	PDE4DIP:NM_001002811:exon1:c.A907C:p.I303L,PDE4DIP:NM_001350520:exon1:c.A907C:p.I303L	.	439	1059	23	0	1	24	0.0107426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0017778262587	.	.	8.237e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs146001390	0.0078	0.0080	0.0080	0.0077	0.0086	0.0077	0.0077	0.0084	0.0083	0.0012	0.0029	0.0231	2.587e-05	0.0095	0.0085	0.0086	0.0085	0.0022	0.0065	0.0066	0.0068	0.0063	0.0093	0.0062	0.0061	0.0087	0.0084	0.0016	0.0208	0.0038	0.0262	0	0.0106	0.0102	0.0093	0.0071	0.0004	0.53	0.07025	T	0.334	0.18340	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.75	0.11730	T	-0.53	0.16393	N	0.14	0.15609	.	.	.	.	.	.	.	0.008189917	0.00186	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.70293	0.31835	T	.	.	.	.	.	.	.	.	-2.368	0.04940	T	.	.	0.110	0.21877	B	.;.	.;.	1.611311	0.20591	14.82	.	.	.	.	.	.	0.093440	0.18906	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.856000	0.27473	1.536000	0.27193	-0.222000	0.07959	0.482000	0.26816	0.763000	0.26639	0.974000	0.55675	.	.	.	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	375.53	21	chr1	148953687	.	A	C	375.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.85;DP=210;ExcessHet=0;FS=3.1;MLEAC=1;MLEAF=0.071;MQ=32.48;MQRankSum=-0.205;QD=9.39;ReadPosRankSum=-0.525;SOR=0.289	GT:AD:DP:GQ:PL	0/1:24,16:40:99:386,0,681	6	0	1	0
chr1	149063792	149063792	G	C	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon15:c.C1867G:p.L623V,NBPF9:NM_001277444:exon15:c.C1867G:p.L623V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1249652356	0.0001	0.0003	0.0001	8.612e-05	0.0019	8.653e-05	7.845e-05	0.0013	0.0011	0.0019	0.0002	0	0.0001	0.0002	0.0005	3.504e-06	0.0001	0.0002	0.0005	0.0012	0.0005	0.0006	0.0019	0.0004	0.0004	0.0015	0.0014	0.0019	0	7.37e-05	0	0.0007	0.0001	0	4.605e-05	0	0	.	.	.	0.274	0.23914	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.17416	.	.	.	.	.	.	.	0.061448842	0.07705	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.959304	0.88511	D	.	.	.	.	.	.	.	.	-7.279	0.57017	T	.	.	0.147	0.36033	B	.;.;.;.;.;.	.;.;.;.;.;.	1.315989	0.17197	13.02	.	.	.	.	.	.	0.043962	0.07015	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.733000	0.37779	0.117000	0.14863	0.168000	0.17747	0.014000	0.18986	0.000000	0.08366	0.092000	0.17891	.	.	.	889	0.27310	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	35.27	17	chr1	149063792	.	G	C	35.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.823;DP=135;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=37.79;MQRankSum=2.17;QD=1.96;ReadPosRankSum=-1.222;SOR=0.473	GT:AD:DP:GQ:PL	0/0:33,0:33:84:0,84,1260	5	0	1	1
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C,NBPF9:NM_001277444:exon7:c.G958T:p.G320C	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	.	.	5.909e-05	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs1385733241	9.61e-06	5.749e-05	1.23e-05	6.897e-06	2.519e-05	5.58e-06	4.36e-06	4.56e-06	3.33e-06	0	0	3.836e-05	2.519e-05	0	0	9.021e-06	3.323e-05	0	1.317e-05	3.942e-05	2.575e-05	0	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	.	.	.	0.365	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.12383446	0.23512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-4.7	0.44930	T	.	.	0.071	0.39220	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.560151	0.09286	6.069	.	.	.	.	.	.	0.017031	0.00420	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.056000	0.11744	0.032000	0.13746	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	3098.05	225	chr1	149075685	.	C	A	3098.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=2.32;DP=2080;ExcessHet=1.1394;FS=6.999;MLEAC=3;MLEAF=0.25;MQ=47.18;MQRankSum=-6.663;QD=2.54;ReadPosRankSum=-2.949;SOR=1.315	GT:AD:DP:GQ:PL	0/1:380,88:468:99:1159,0,9653	3	0	3	1
chr1	149079127	149079127	C	G	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon4:c.G373C:p.E125Q,NBPF9:NM_001277444:exon4:c.G373C:p.E125Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	.	.	0.0644	0.0770	0.0487	0.0410	0.0303	0.0633	0.0866	0.0969	0.0106808	278	26028	.	8.799e-07	7.127e-05	1.795e-06	0	1.217e-06	0	0	.	.	0	0	0	0	0	0	1.217e-06	0	0	6.917e-05	0.0006	9.41e-05	4.275e-05	0.0002	3.691e-05	2.843e-05	6.773e-05	4.555e-05	0.0002	0	0	0	0.0002	9.903e-05	0	1.515e-05	0	0.0002	.	.	.	0.199	0.27679	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.05414	-0.9539	0.40292	T	0.001	0.00318	T	6	0.0030939877	0.00051	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.547456741333	0.45498	T	.	.	.	-0.147531	0.28698	T	-0.449695	0.27730	T	0.00119219371206561	0.00012	T	0.891311	0.66975	D	0.099779524	0.23552	0.08344974	0.19124	0.099779524	0.23552	0.08344974	0.19124	-9.559	0.71226	D	.	.	0.079	0.36869	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.030248	0.04496	1.203	0.057885152920866254	0.00015	0.00003	0.00079	N	AEFI	0.013383	0.00176	N	-1.68197913367445	0.00907	0.03928493	-1.79824352941992	0.00765	0.03410724	1.92802502388975E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	0.521	-1.04	0.09555	-0.551000	0.06117	-1.586000	0.05115	-1.150000	0.01427	0.000000	0.06391	0.000000	0.08366	0.056000	0.15673	.	.	.	889	0.27310	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	37.29	10	chr1	149079127	.	C	G	37.29	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.804;DP=114;ExcessHet=0;FS=12.856;MLEAC=1;MLEAF=0.083;MQ=35.12;MQRankSum=-0.542;QD=2.33;ReadPosRankSum=0;SOR=3.606	GT:AD:DP:GQ:PL	0/0:29,2:31:25:0,25,1005	5	0	1	1
chr1	149476000	149476000	C	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon1:c.C68A:p.T23K	.	439	1070	13	0	0	13	0.00603809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.914e-06	0.0001	6.637e-06	3.234e-06	3.197e-05	1.77e-06	1.16e-06	1.05e-06	7.1e-07	3.197e-05	2.263e-05	0	0	0	0	4.47e-06	0	0	0.0002	0.0020	0.0001	0.0002	0.0005	0.0001	0.0001	0.0001	9.567e-05	4.942e-05	0	6.976e-05	0.0012	0.0004	0.0001	0	0.0002	0	0.0005	.	.	.	0.238	0.24549	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.136	0.15046	-0.9732	0.36518	T	0.000	0.00152	T	7	0.041458398	0.02803	T	2.1E-4	0.00005	T	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.001534	0.00977	T	-0.258436	0.13083	T	-0.609002	0.12066	T	0.0377450288243948	0.03287	T	0.49745	0.15470	T	0.038046084	0.04993	0.06475348	0.13026	0.038046084	0.04992	0.06475348	0.13026	-1.143	0.01172	T	.	.	0.050	0.00130	B	.;.;.	.;.;.	-0.436196	0.02080	0.193	0.30157414338663457	0.01635	0.00027	0.00265	N	AEFDBHCIJ	.	.	.	-1.71877720489443	0.00777	0.03357492	-1.76073307947	0.00893	0.03994536	0.999999413893899	0.74766	0.675202	0.55065	0	0.008208	0.00037	3	0.691665	0.62940	0	0.756233	0.99697	0	.	.	1.21	-0.139	0.12803	-0.024000	0.12382	-0.148000	0.11448	-0.613000	0.04580	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.416:0.2945:0.0:0.2895	2.171	0.03615	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	308.37	34	chr1	149476000	.	C	A	308.37	.	AC=3;AF=0.214;AN=14;BaseQRankSum=4.59;DP=571;ExcessHet=1.1394;FS=27.558;MLEAC=3;MLEAF=0.214;MQ=33.26;MQRankSum=-4.196;QD=0.67;ReadPosRankSum=-3.548;SOR=3.886	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	4	0	3	0
chr1	149476006	149476006	G	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon1:c.G74A:p.R25H	.	440	1066	16	0	0	16	0.00744879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450463980	0.0016	0.0064	0.0017	0.0015	0.0019	0.0016	0.0016	0.0018	0.0018	0.0005	0.0005	0.0016	0.0009	0.0014	0.0015	0.0019	0.0015	0.0006	0.0005	0.0024	0.0004	0.0005	0.0004	0.0004	0.0003	0.0003	0.0003	0.0004	0	0.0003	0.0009	0.0002	0.0014	0	0.0004	0	0.0002	.	.	.	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.126	0.11912	-0.9534	0.40380	T	0.005	0.01578	T	9	0.034075946	0.01603	T	5.6E-4	0.00221	T	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.015807	0.13185	T	-0.346532	0.04948	T	-0.735546	0.04081	T	0.0515061975916717	0.05762	T	0.772023	0.40277	T	0.024656914	0.01319	0.043804567	0.05533	0.024656914	0.01319	0.043804567	0.05532	-6.957	0.53720	T	.	.	0.096	0.15160	B	.;.;.	.;.;.	0.628899	0.09975	6.729	0.91245755014531849	0.20504	0.00546	0.02508	N	AEFDBHCIJ	.	.	.	-1.10416153052003	0.06569	0.3027576	-1.28977332957077	0.04568	0.2157507	0.999999577828503	0.74766	0.675202	0.55065	0	0.67197	0.64623	0	0.691665	0.62940	0	0.756233	0.99697	0	.	.	1.06	-1.67	0.07798	-1.475000	0.02441	-15.955000	0.00333	-0.714000	0.03913	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.413:0.0:0.587:0.0	4.485	0.11196	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	462.89	34	chr1	149476006	.	G	A	462.89	.	AC=3;AF=0.214;AN=14;BaseQRankSum=4.28;DP=629;ExcessHet=1.1394;FS=21.18;MLEAC=3;MLEAF=0.214;MQ=34.08;MQRankSum=-3.792;QD=0.95;ReadPosRankSum=-3.431;SOR=3.262	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	4	0	3	0
chr1	149584007	149584007	G	A	exonic	PPIAL4C	.	nonsynonymous SNV	PPIAL4C:NM_001135789:exon1:c.G110A:p.R37H	.	488	1001	29	4	0	37	0.0181462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1209392785	0.0086	0.0090	0.0085	0.0087	0.0145	0.0084	0.0083	0.0106	0.0099	0.0018	0.0070	0.0169	9.422e-05	0.0039	0.0145	0.0103	0.0087	0.0070	0.0070	0.0071	0.0073	0.0067	0.0107	0.0066	0.0065	0.0100	0.0097	0.0014	0.0024	0.0074	0.0143	0.0002	0.0018	0.0231	0.0107	0.0120	0.0050	.	.	.	0.354	0.17268	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.9	0.23486	T	.	.	.	0.218	0.24385	.	.	.	.	.	.	.	0.018166542	0.00393	T	.	.	.	.	.	.	.	0.219573609325	0.21563	0.32605712726361036	0.32518	.	.	0.53084218502	0.43153	T	0.092793	0.39078	T	0.0686114	0.60679	T	-0.139221	0.60185	T	.	.	.	0.234777	0.03226	T	0.046832833	0.07904	0.11937177	0.28813	0.046832833	0.07904	0.11937177	0.28812	-5.919	0.45596	T	.	.	0.111	0.21466	B	.	.	1.028578	0.14083	10.66	0.67423224367540469	0.08350	0.67005	0.33277	D	AEFI	.	.	.	.	.	.	.	.	.	0.00176460587516392	0.08861	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.619667	0.41142	0.386	0.386	0.15477	4.040000	0.57044	-2.912000	0.03237	0.408000	0.20627	1.000000	0.71638	0.000000	0.08366	0.839000	0.39591	2.0E-4:0.0:0.9998:0.0	6.584	0.21804	784	0.47045	Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	839.27	20	chr1	149584007	.	G	A	839.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.63;DP=188;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=26.01;MQRankSum=-2.058;QD=15.84;ReadPosRankSum=1.42;SOR=0.808	GT:AD:DP:GQ:PL	0/1:16,37:53:99:849,0,292	5	0	1	1
chr1	150471550	150471550	G	A	exonic	RPRD2	.	nonsynonymous SNV	RPRD2:NM_001297673:exon10:c.G2524A:p.E842K,RPRD2:NM_001297674:exon10:c.G2524A:p.E842K,RPRD2:NM_015203:exon11:c.G2602A:p.E868K	.	434	1068	20	0	0	20	0.00927644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	0.0005	0.029353	0.0140	0.0006	0.0271	0.0282	0.0006	0.0007	0.0078	0.0648	0.0126712	1959	154602	rs117341696	0.0060	0.0060	0.0045	0.0076	0.0633	0.0059	0.0059	0.0619	0.0613	0.0005	0.0256	0.0001	0.0341	0.0006	0.0019	0.0003	0.0065	0.0633	0.0057	0.0057	0.0044	0.0070	0.0740	0.0054	0.0052	0.0676	0.0651	0.0013	0	0.0189	0	0.0254	0.0003	0	0.0004	0.0028	0.0740	0.002	0.72154	D	0.116	0.36497	T	0.89	0.48942	P	0.288	0.40614	B	0.001443	0.38980	N	0.222920	0.998188	0.44603	D	0.805	0.20218	L	0.57	0.54347	T	-1.0	0.27052	N	0.236	0.26596	-0.9750	0.36125	T	0.076	0.30397	T	10	0.0025286674	0.00038	T	.	.	.	0.197	0.47942	.	.	.	.	0.48136191013942814	0.48056	0.328683231813	0.34977	0.547893047333	0.45560	T	0.025186	0.18883	T	-0.352343	0.04581	T	-0.231779	0.51600	T	0.0163060505370103	0.00401	T	0.931607	0.74605	D	0.21636108	0.44092	0.1879626	0.42059	0.21636108	0.44092	0.1879626	0.42058	-4.72	0.33645	T	.	.	0.329	0.55131	B	.;.	.;.	4.006442	0.59070	24.1	0.99628278899891676	0.75898	0.98280	0.81214	D	AEFBI	0.622922	0.60706	D	0.378744496772732	0.60271	4.214338	0.487693414964798	0.67173	5.048747	0.999997305226402	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	6.621000	0.74096	9.986000	0.82954	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.202	0.93699	98	0.95963	.;.	.	.	.	.	rs117341696	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.000000	0.008772	0.000000	0.000000	0.003049	0.037879	0.07143	218.44	33	chr1	150471550	.	G	A	218.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.15;DP=222;ExcessHet=0;FS=2.363;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=0.129;SOR=1.288	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1272	6	0	1	0
chr1	150557014	150557014	C	T	exonic	ADAMTSL4	.	nonsynonymous SNV	ADAMTSL4:NM_001378596:exon11:c.C1825T:p.P609S,ADAMTSL4:NM_019032:exon11:c.C1825T:p.P609S,ADAMTSL4:NM_025008:exon11:c.C1825T:p.P609S,ADAMTSL4:NM_001288608:exon12:c.C1894T:p.P632S	Ectopia lentis et pupillae, Autosomal recessive;Ectopia lentis, isolated, autosomal recessive, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	2003772	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.014	0.0127074327568	.	.	8.309e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs766204338	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	0.05584	T	0.503	0.28032	T	0.22	0.39849	B	0.039	0.35748	B	.	.	.	.	0.782983	0.34290	D	2.52	0.73523	M	0.12	0.61089	T	-1.09	0.28290	N	0.267	0.38232	-1.0963	0.04569	T	0.054	0.22770	T	9	0.096479505	0.17309	T	0.012707	0.31519	T	0.014	0.01968	0.249	0.18602	0.667668966213	0.66487	0.3686724747565233	0.36781	0.327345842699	0.34869	0.294766128063	0.09623	T	0.014772	0.12515	T	-0.158514	0.26989	T	-0.465471	0.26006	T	0.0847300551072728	0.10581	T	0.791221	0.43226	T	0.025130497	0.01417	0.03477175	0.02605	0.025130497	0.01417	0.03477175	0.02604	-5.439	0.41293	T	0.4089193663638698	0.49954	0.076	0.09385	B	.;.;.;.	.;.;.;.	0.854158	0.12265	8.806	0.76070624548109789	0.11322	0.16776	0.19544	N	AEFDBCI	0.049013	0.08423	N	-0.626190272624711	0.18160	0.9406188	-0.653064122168886	0.18139	0.9676866	0.999999590664772	0.74766	0.651	0.46895	0	0.588066	0.40923	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	5.05	3.16	0.35406	-0.028000	0.12299	0.497000	0.18957	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.085000	0.17524	0.1924:0.6253:0.0:0.1823	4.368	0.10668	114	0.95383	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1083.27	32	chr1	150557014	.	C	T	1083.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.142;DP=234;ExcessHet=0;FS=0.939;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=1.09;SOR=0.541	GT:AD:DP:GQ:PL	0/1:27,42:69:99:1093,0,643	5	0	1	1
chr1	150557228	150557228	G	A	exonic	ADAMTSL4	.	nonsynonymous SNV	ADAMTSL4:NM_001378596:exon12:c.G1940A:p.R647Q,ADAMTSL4:NM_019032:exon12:c.G1940A:p.R647Q,ADAMTSL4:NM_025008:exon12:c.G1940A:p.R647Q,ADAMTSL4:NM_001288608:exon13:c.G2009A:p.R670Q	Ectopia lentis et pupillae, Autosomal recessive;Ectopia lentis, isolated, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0476038583393	.	.	1.866e-05	0	0	0	0	1.7e-05	0	6.406e-05	1.29e-05	2	154602	rs766707868	6.853e-06	6.841e-06	2.727e-06	1.102e-05	5.807e-05	3.47e-06	2.53e-06	2.197e-05	1.432e-05	0	0	0	0	0	0	4.498e-06	0	5.807e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.41096	T	0.362	0.30045	T	1.0	0.90584	D	0.974	0.86255	D	.	.	.	.	0.999514	0.50225	D	2.54	0.74080	M	0.01	0.62459	T	-1.68	0.40082	N	0.466	0.50237	-0.3856	0.72478	T	0.365	0.72590	T	9	0.32089195	0.49459	T	0.047604	0.62997	D	0.130	0.35528	0.296	0.26041	0.882619457088	0.88146	0.4163530703746958	0.41551	0.61309136302	0.55890	0.62737262249	0.56772	T	0.008	0.07627	T	-0.00464383	0.51011	T	-0.143817	0.59785	T	0.839370131492615	0.49276	D	0.922308	0.71908	D	0.19749382	0.41615	0.17985229	0.40747	0.19749382	0.41615	0.17985229	0.40746	-2.954	0.09746	T	0.6796381021623671	0.75586	0.215	0.44410	B	.;.;.;.	.;.;.;.	6.121279	0.94609	34	0.99949335393749672	0.99931	0.92970	0.56998	D	AEFBCI	0.645996	0.62169	D	0.692494896879913	0.79140	7.015354	0.698001680628614	0.82227	7.715109	0.999999999999914	0.74766	0.646311	0.45356	0	0.550933	0.16991	0	0.645312	0.48771	0	0.727631	0.95156	0	.	.	5.76	5.76	0.90726	3.333000	0.51806	11.815000	0.97057	0.676000	0.76740	0.935000	0.32453	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	17.468	0.87531	114	0.95383	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	344.63	33	chr1	150557228	.	G	A	344.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.378;DP=216;ExcessHet=0;FS=1.574;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-0.807;SOR=0.33	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	6	0	1	0
chr1	151006130	151006130	T	-	exonic	MINDY1	.	frameshift deletion	MINDY1:NM_001163258:exon2:c.26delA:p.N9Mfs*39	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.146e-07	6.84e-07	1.41e-06	0	3.165e-05	0	0	.	.	3.165e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	236.45	24	chr1	151006129	.	AT	A	236.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.658;DP=186;ExcessHet=0;FS=2.158;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=0.719;SOR=0.169	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1176	6	0	1	0
chr1	151138034	151138034	G	A	exonic	SEMA6C	.	nonsynonymous SNV	SEMA6C:NM_001178061:exon9:c.C619T:p.P207S,SEMA6C:NM_030913:exon9:c.C619T:p.P207S	.	375	1140	7	0	0	7	0.00306078	.	.	.	2809246	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.041	0.0054655425135	0.0052	0.00279553	0.0045	0.0010	0.0008	0	0.0040	0.0070	0.0033	0.0021	0.0043919	679	154602	rs139583127	0.0061	0.0061	0.0062	0.0060	0.0072	0.0060	0.0059	0.0071	0.0071	0.0006	0.0008	0.0026	0	0.0032	0.0023	0.0072	0.0053	0.0022	0.0045	0.0045	0.0048	0.0042	0.0074	0.0042	0.0041	0.0069	0.0067	0.0013	0.0351	0.0015	0.0026	0.0004	0.0038	0.0034	0.0074	0.0038	0.0025	0.052	0.39097	T	0.016	0.61642	D	0.001	0.11197	B	0.003	0.15521	B	0.002416	0.36612	N	0.259535	0.902996	0.36217	D	-0.43	0.02865	N	3.07	0.08547	T	-0.73	0.20576	N	0.175	0.18784	-0.9187	0.45729	T	0.004	0.01226	T	10	0.0053745806	0.00118	T	0.005466	0.14045	T	0.041	0.10877	.	.	0.366848117066	0.36290	0.29716454675821175	0.29629	1.08119682957	0.77139	0.388885736465	0.23513	T	0.023824	0.18118	T	-0.659255	0.00063	T	-0.711931	0.05197	T	0.0184003743977874	0.00557	T	0.838016	0.51077	T	0.054427583	0.10441	0.0538941	0.09165	0.054427583	0.10440	0.0538941	0.09164	-6.709	0.52708	T	.	.	0.083	0.09239	B	.;.;.;.;.	.;.;.;.;.	2.086328	0.26537	17.15	0.96280672423546265	0.29279	0.66429	0.33075	D	AEFDBHCI	0.179194	0.30647	N	-0.666186170515467	0.16990	0.8704987	-0.524035943949895	0.21501	1.163441	0.3305929840632	0.19481	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.85	1.86	0.24489	3.132000	0.50218	2.114000	0.30678	-0.135000	0.12811	0.996000	0.39380	0.999000	0.35428	0.993000	0.69303	0.3058:0.1713:0.5229:0.0	4.105	0.09505	164	0.93620	.;Sema domain|Sema domain|Sema domain;Sema domain|Sema domain|Sema domain;Sema domain|Sema domain|Sema domain;Sema domain|Sema domain|Sema domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	648.44	34	chr1	151138034	.	G	A	648.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.04;DP=230;ExcessHet=0;FS=4.211;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=0.954;SOR=1.168	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1085	6	0	1	0
chr1	151316496	151316496	T	C	exonic	PI4KB	.	nonsynonymous SNV	PI4KB:NM_001369625:exon3:c.A22G:p.S8G,PI4KB:NM_001369628:exon3:c.A22G:p.S8G,PI4KB:NM_002651:exon3:c.A22G:p.S8G	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00867379601379	.	.	3.826e-05	0.0001	0	0	0	0	0	0.0003	5.82e-05	9	154602	rs758672973	5.522e-05	6.43e-05	3.46e-05	7.676e-05	0.0010	4.512e-05	4.115e-05	0.0008	0.0008	0	0	0	0	0	0	9.42e-07	3.579e-05	0.0010	2.627e-05	2.625e-05	0	5.371e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.185	0.21550	T	0.238	0.24549	T	.	.	.	.	.	.	0.932798	0.08409	N	0.967795	1	0.81001	D	.	.	.	-0.28	0.67543	T	-0.86	0.23372	N	0.106	0.09066	-1.0120	0.26291	T	0.073	0.29483	T	7	0.08272007	0.13683	T	0.008674	0.22903	T	0.038	0.09825	0.255	0.19533	0.606024743591	0.60286	0.18531146761136696	0.18449	0.380714261292	0.39437	.	.	.	.	.	.	-0.416429	0.01803	T	-0.481914	0.24244	T	0.0289847086867817	0.01834	T	0.626337	0.24237	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.15921	B	.	.	1.629416	0.20803	14.92	0.98294787732694133	0.39983	0.78630	0.38822	D	AEFDBI	0.077373	0.15588	N	0.0167163536604621	0.42615	2.57107	0.0557859306936801	0.42351	2.560169	0.81580708143979	0.24436	0.732398	0.92422	0	0.697927	0.68747	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.31	2.77	0.31614	0.197000	0.16999	1.471000	0.26753	0.665000	0.62972	0.795000	0.29657	0.939000	0.28734	0.980000	0.58198	0.153:0.084:0.1403:0.6227	2.796	0.05069	102	0.95784	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	310.83	41	chr1	151316496	.	T	C	310.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.99;DP=218;ExcessHet=0;FS=4.419;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.558;SOR=2.215	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr1	151529432	151529432	G	A	exonic	CGN	.	nonsynonymous SNV	CGN:NM_020770:exon11:c.G1979A:p.R660Q	.	414	1106	1	1	0	3	0.0013544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0054	0.0061901	0.0018	0.0191	0.0006	0	0	0.0001	0.0022	0.0001	0.0017076	264	154602	rs116788396	0.0006	0.0006	0.0006	0.0005	0.0170	0.0005	0.0005	0.0159	0.0154	0.0170	0.0008	0	0.0002	1.873e-05	0.0023	8.184e-05	0.0012	0.0002	0.0043	0.0043	0.0045	0.0040	0.0149	0.0040	0.0039	0.0140	0.0136	0.0149	0	0.0012	0	0.0002	0	0.0034	0.0001	0.0014	0	0.136	0.26085	T	0.725	0.05256	T	.	.	.	.	.	.	0.073741	0.21326	N	0.472504	0.999652	0.20771	N	.	.	.	-0.03	0.63077	T	-0.5	0.15782	N	0.144	0.14480	-1.0213	0.23292	T	0.039	0.16892	T	10	0.0054581463	0.00120	T	.	.	.	0.064	0.18567	.	.	0.388812400583	0.38497	0.07684217951077739	0.07620	0.175032108942	0.19705	0.276989340782	0.07077	T	.	.	.	-0.590765	0.00166	T	-0.606433	0.12277	T	0.00941095471321685	0.00121	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.03773	B	.	.	2.330201	0.29851	18.25	0.99771765911826049	0.86003	0.44845	0.27408	N	AEFDGBI	0.148719	0.27267	N	-0.57008348474938	0.19858	1.042612	-0.4216367093487	0.24364	1.333726	0.26517012316576	0.18833	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.43	2.53	0.29594	0.582000	0.23535	2.780000	0.34729	0.676000	0.76740	0.737000	0.28995	0.994000	0.32194	0.990000	0.65344	0.3254:0.0:0.6746:0.0	6.082	0.19171	431	0.80762	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007599	0.020202	0.014946	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1486.53	45	chr1	151529432	.	G	A	1486.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.434;DP=291;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.7;ReadPosRankSum=0.761;SOR=0.606	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1229	6	0	1	0
chr1	151770213	151770213	T	C	exonic	OAZ3	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	.	0.0050	0.00559105	0.0017	0.0198	0.0010	0	0	0	0.0022	6.074e-05	0.0016688	258	154602	rs115069090	0.0005	0.0005	0.0006	0.0005	0.0182	0.0005	0.0005	0.0170	0.0165	0.0182	0.0011	0	0	0	0.0016	1.709e-05	0.0013	6.956e-05	0.0044	0.0044	0.0048	0.0040	0.0153	0.0041	0.0040	0.0143	0.0139	0.0153	0	0.0021	0	0	0	0.0034	1.47e-05	0.0009	0	.	.	.	0.235	0.33109	T	.	.	.	.	.	.	0.000069	0.52346	D	0.000000	0.903057	0.81001	D	.	.	.	1.43	0.32958	T	.	.	.	0.806	0.82559	-1.1085	0.03201	T	0.044	0.18989	T	10	0.005957186	0.00134	T	.	.	.	0.106	0.30130	.	.	0.27855597813	0.27464	0.5639549011841519	0.56322	0.317390200861	0.33983	0.590671658516	0.51588	T	0.019198	0.43192	T	-0.430565	0.01470	T	-0.375658	0.36230	T	0.0172107703270242	0.00464	T	0.659134	0.26825	T	0.0891908	0.20832	0.20722903	0.44973	0.0891908	0.20832	0.20722903	0.44972	-5.691	0.43614	T	.	.	0.218	0.48705	B	.;.;.;.;.	.;.;.;.;.	2.857845	0.37752	20.6	0.9917956224035912	0.54643	0.89410	0.49858	D	AEFDBI	0.544752	0.55955	D	0.224260323232122	0.52378	3.412259	0.331448693107141	0.57395	3.905205	0.999987602623142	0.51787	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.43	5.43	0.79006	3.815000	0.55355	6.239000	0.55277	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	11.791	0.51339	292	0.88363	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.005051	0.009511	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1737.44	44	chr1	151770213	.	T	C	1737.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.18;DP=455;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=-0.656;SOR=0.718	GT:AD:DP:GQ:PL	0/0:78,0:78:99:0,120,1800	6	0	1	0
chr1	151814975	151814975	C	T	exonic	RORC	.	nonsynonymous SNV	RORC:NM_001001523:exon4:c.G686A:p.S229N,RORC:NM_005060:exon5:c.G749A:p.S250N	Immunodeficiency 42, Autosomal recessive	416	1101	5	0	0	5	0.00226552	.	.	.	447201	Autosomal_recessive_mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_RORgamma_receptor_deficiency|not_provided	MONDO:MONDO:0014710,MedGen:C5567647,OMIM:616622,Orphanet:477857|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.178	0.035382658425	0.0034	0.00239617	0.0035	0.0008	0.0042	0	0.0009	0.0052	0.0011	0.0010	0.0035769	553	154602	rs41263732	0.0045	0.0045	0.0046	0.0044	0.0062	0.0044	0.0044	0.0053	0.0052	0.0011	0.0050	0.0010	0	0.0009	0.0062	0.0054	0.0035	0.0007	0.0036	0.0036	0.0037	0.0035	0.0077	0.0034	0.0033	0.0066	0.0062	0.0008	0	0.0077	0.0009	0	0.0005	0	0.0056	0.0043	0.0010	0.319	0.13610	T	0.562	0.09052	T	0.0	0.02946	B	0.002	0.06944	B	0.491828	0.12048	U	0.708276	0.985251	0.27394	N	0.4	0.12274	N	-3.44	0.94469	D	-0.55	0.16799	N	0.107	0.12770	-0.6230	0.63864	T	0.463	0.79229	T	10	0.006422162	0.00145	T	0.035383	0.56311	D	0.178	0.44724	.	.	0.0675242888579	0.06100	0.2991254456685456	0.29825	0.502364597642	0.48596	0.319736391306	0.13381	T	0.046419	0.27419	T	-0.406512	0.02097	T	-0.352698	0.38896	T	0.00503885002551602	0.00054	T	0.593441	0.21910	T	0.050329994	0.09075	0.043403666	0.05390	0.043574948	0.06814	0.05565613	0.09803	-5.559	0.42847	T	.	.	0.086	0.10497	B	.;.	.;.	1.781456	0.22647	15.71	0.91852323807667569	0.21165	0.47943	0.28096	N	AEFGBI	0.331338	0.43109	N	-0.612297205863135	0.18573	0.9653918	-0.569535625930826	0.20289	1.092451	0.999905428536492	0.45458	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.35	-0.194	0.12590	0.329000	0.19442	0.591000	0.19822	0.599000	0.40250	0.960000	0.33603	0.178000	0.23398	0.923000	0.45890	0.1583:0.5105:0.1396:0.1916	2.431	0.04199	580	0.69689	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009567	0.000000	0.009511	0.011696	0.000000	0.025862	0.006098	0.007576	0.07143	1135.44	65	chr1	151814975	.	C	T	1135.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.184;DP=270;ExcessHet=0;FS=0.983;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.47;ReadPosRankSum=0.548;SOR=0.85	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1173	6	0	1	0
chr1	152109804	152109804	C	T	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.G3413A:p.R1138K	.	424	1089	9	0	0	9	0.00411523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	.	0.00758786	0.0048	0.0001	0.0003	0	0	2.999e-05	0	0.0348	0.0040491	626	154602	rs533992300	0.0021	0.0021	0.0011	0.0032	0.0339	0.0021	0.0020	0.0329	0.0325	9.158e-05	0	0	0	0	0.0025	2.364e-05	0.0021	0.0339	0.0011	0.0011	0.0005	0.0016	0.0346	0.0009	0.0009	0.0302	0.0286	0	0	0	0	0	0	0	0	0.0005	0.0346	0.0	0.91255	D	0.339	0.18071	T	0.141	0.27581	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	1.87	0.49600	L	3.58	0.04594	T	-0.36	0.13035	N	0.215	0.24135	-0.9188	0.45716	T	0.003	0.00832	T	9	0.0022397041	0.00033	T	.	.	.	0.015	0.02232	0.292	0.25400	0.39798585902	0.39410	0.020110557720561088	0.01964	0.269095252176	0.29422	0.304328262806	0.11049	T	0.002148	0.01547	T	-0.575642	0.00205	T	-0.573884	0.15095	T	0.110068335798985	0.13431	T	0.153785	0.01329	T	0.16616009	0.36933	0.2301852	0.48113	0.17152028	0.37790	0.27158147	0.53059	-6.744	0.52141	T	.	.	0.192	0.44986	B	.;.	.;.	1.747150	0.22230	15.53	0.51538923033367567	0.04581	0.04943	0.10703	N	AEFDBHCI	0.076084	0.15298	N	-1.1373360611999	0.05990	0.2746135	-1.17216560275044	0.06378	0.3068309	0.999861090633338	0.44398	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.554799	0.18163	0	.	.	3.01	2.08	0.26079	1.223000	0.32131	.	.	0.440000	0.21072	0.005000	0.17040	0.000000	0.08366	0.001000	0.02609	0.0:0.8634:0.0:0.1366	7.490	0.26625	479	0.77495	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004228	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.026515	0.07143	1395.44	125	chr1	152109804	.	C	T	1395.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.521;DP=432;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.74;MQRankSum=-1.467;QD=11.16;ReadPosRankSum=-2.059;SOR=0.673	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,115,1800	6	0	1	0
chr1	152111136	152111136	C	G	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.G2081C:p.R694P	.	.	.	.	.	.	.	.	.	.	.	3485889	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	0.010275121378	0.0003	0.000199681	9.992e-05	0.0011	0	0	0	0	0	6.056e-05	8.41e-05	13	154602	rs199667222	2.805e-05	2.805e-05	2.723e-05	2.888e-05	0.0009	2.087e-05	1.879e-05	0.0006	0.0006	0.0009	2.236e-05	0	0	0	0	0	0.0001	3.478e-05	0.0003	0.0003	0.0003	0.0002	0.0009	0.0002	0.0002	0.0006	0.0006	0.0009	0	0.0002	0	0	0	0	0	0	0	0.0	0.91255	D	0.102	0.38450	T	0.924	0.51285	P	0.415	0.44933	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.24	0.06845	T	-1.29	0.32387	N	0.343	0.38438	-0.9366	0.43149	T	0.006	0.01981	T	9	0.022737473	0.00576	T	0.010275	0.26610	T	0.050	0.13987	.	.	0.394990421082	0.39112	0.04057643567234445	0.04003	0.380035322412	0.39378	0.399327278137	0.24975	T	0.001966	0.01375	T	-0.515675	0.00466	T	-0.563949	0.16008	T	0.0473421474603687	0.05026	T	0.223678	0.02905	T	0.2540414	0.48430	0.22055812	0.46835	0.2540414	0.48430	0.22055812	0.46834	-5.415	0.41063	T	.	.	0.818	0.79552	P	.;.	.;.	1.372372	0.17825	13.39	0.63076596857843936	0.07128	0.03630	0.08873	N	AEFDBHCIJ	0.133834	0.25363	N	-0.689346018665143	0.16323	0.8306686	-0.855036738758771	0.13167	0.6815633	0.990141528035263	0.32054	0.582742	0.33608	0	0.541168	0.11318	0	0.378051	0.06126	2	0.603991	0.37454	0	.	.	3.24	1.25	0.20475	-3.682000	0.00442	.	.	0.585000	0.30472	0.000000	0.06391	0.314000	0.24288	0.001000	0.02609	0.0:0.6473:0.2247:0.128	4.650	0.11975	480	0.77422	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1529.45	36	chr1	152111136	.	C	G	1529.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.276;DP=378;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=1.46;SOR=0.739	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,115,1800	6	0	1	0
chr1	152155538	152155573	AACTCTGGCCTTGTCTGTCTGTCTGACCATAGTGGG	-	exonic	RPTN	.	nonframeshift deletion	RPTN:NM_001122965:exon3:c.1526_1561del:p.S509_S520del	.	1	224	1	0	0	1	0.00222717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.315e-06	0	0	0	0	1.508e-05	0	0	3.84e-05	1	26028	rs749387317	1.41e-06	1.368e-06	1.404e-06	1.416e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.498e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	518.4	159	chr1	152155537	.	AAACTCTGGCCTTGTCTGTCTGTCTGACCATAGTGGG	A	518.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.405;DP=1316;ExcessHet=0;FS=2.736;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.041;SOR=0.764	GT:AD:DP:GQ:PL	0/0:273,0:273:99:0,120,1800	6	0	1	0
chr1	152220343	152220343	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G1286A:p.R429H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00122739519306	0.0005	0.000199681	0.0003	0.0002	0.0002	0.0002	0	0.0004	0	0.0004	0.0002846	44	154602	rs141454792	0.0004	0.0004	0.0003	0.0004	0.0029	0.0003	0.0003	0.0025	0.0023	2.988e-05	0.0002	7.656e-05	0.0029	0.0001	0.0007	0.0003	0.0003	0.0007	0.0002	0.0002	0.0003	0.0002	0.0006	0.0002	0.0001	0.0002	0.0002	4.827e-05	0	0.0001	0.0003	0.0006	0	0.0068	0.0004	0	0.0002	0.626	0.05214	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.485	0.00059	N	3.76	0.03892	T	2.92	0.00152	N	0.052	0.02366	-0.9431	0.42121	T	0.002	0.00556	T	9	0.01396364	0.00294	T	0.001227	0.01633	T	0.009	0.00846	.	.	0.154104182512	0.14974	0.03022943121799319	0.02971	.	.	0.609022140503	0.54177	T	0.013645	0.11764	T	-0.673235	0.00053	T	-0.868573	0.00756	T	0.0955496728420258	0.11861	T	0.315568	0.06252	T	0.016984226	0.00236	0.033731356	0.02316	0.016984226	0.00236	0.033731356	0.02315	-5.165	0.38584	T	.	.	0.076	0.06024	B	.	.	-0.954714	0.00838	0.029	0.6986725522075582	0.09110	0.00030	0.00276	N	AEFBI	0.014312	0.00223	N	-1.65380542561	0.01019	0.0441823	-1.63359155828989	0.01463	0.06617795	1.17050691770943E-5	0.02871	0.553676	0.25195	0	0.588066	0.40923	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.48	-0.354	0.11965	-0.434000	0.07009	.	.	-2.263000	0.00333	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2174:0.0:0.7826	7.947	0.29157	570	0.70478	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	226.44	151	chr1	152220343	.	C	T	226.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.89;DP=1356;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.59;ReadPosRankSum=-0.702;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:310,0:310:99:.:.:0,120,1800:.	6	0	1	0
chr1	152221104	152221104	C	G	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G525C:p.Q175H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00309534671196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.131	0.34596	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	2.165	0.60562	M	4.62	0.01834	T	0.41	0.03407	N	0.098	0.07949	-0.9346	0.43455	T	0.002	0.00497	T	9	0.05947599	0.07156	T	0.003095	0.06696	T	0.083	0.24192	0.271	0.22052	0.203808441222	0.19973	0.050862021312989364	0.05028	.	.	0.385734915733	0.23066	T	0.012941	0.11287	T	-0.383995	0.02939	T	-0.789358	0.02182	T	0.104226213195958	0.12815	T	0.243776	0.03556	T	0.048060205	0.08317	0.07811758	0.17466	0.048060205	0.08317	0.07811758	0.17466	-5.014	0.36992	T	.	.	0.181	0.39391	B	.	.	-0.989858	0.00786	0.025	0.60748097816726221	0.06539	0.00194	0.01121	N	AEFDBI	0.017337	0.00448	N	-1.60927514468013	0.01219	0.05300084	-1.72870184902784	0.01016	0.04556057	0.33400486024781	0.19515	0.553676	0.25195	0	0.547309	0.14657	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.85	-7.69	0.01124	-6.411000	0.00083	.	.	-0.418000	0.05239	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.7176:0.1703:0.1121	14.646	0.68363	570	0.70478	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2280.44	42	chr1	152221104	.	C	G	2280.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.954;DP=562;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-1.139;SOR=0.679	GT:AD:DP:GQ:PL	0/1:105,90:195:99:2291,0,2833	6	0	1	0
chr1	152221346	152221346	G	A	exonic	HRNR	.	stopgain	HRNR:NM_001009931:exon3:c.C283T:p.Q95X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1312893145	2.737e-06	2.736e-06	0	5.501e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	1.315e-05	1.314e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.046	0.01825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.509519	0.94562	D	0.509598	0.94832	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.081245	0.96118	35	0.99625037712986786	0.75655	0.69152	0.34075	D	AEFBI	0.158643	0.28433	N	0.344080271227703	0.58426	4.014952	0.150557455992175	0.47170	2.951391	6.62764350173963E-5	0.04366	0.594549	0.33734	0	0.547309	0.14657	0	0.573888	0.23631	0	0.836244	0.99985	0	.	.	5.11	3.19	0.35720	1.430000	0.34522	.	.	-0.136000	0.12710	1.000000	0.71638	1.000000	0.68203	0.717000	0.34675	0.0:0.0:0.6555:0.3445	10.746	0.45378	570	0.70478	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1344.46	42	chr1	152221346	.	G	A	1344.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.298;DP=446;ExcessHet=0;FS=0.69;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=1.97;SOR=0.572	GT:AD:DP:GQ:PL	0/1:64,55:119:99:1355,0,1787	6	0	1	0
chr1	152302787	152302787	A	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T12099A:p.N4033K	Ichthyosis vulgaris, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3666480	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.0029564501868	.	.	2.472e-05	0	0	0	0	2.998e-05	0	6.057e-05	1.94e-05	3	154602	rs747657151	1.368e-05	1.368e-05	1.089e-05	1.65e-05	0.0003	8.94e-06	7.26e-06	6.246e-05	4.757e-05	0	0	0	0	0	0.0003	4.496e-06	4.967e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	.	.	.	0.275	0.31898	B	0.031	0.21939	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	5.7	0.00742	T	-0.47	0.15178	N	0.303	0.34228	-0.9411	0.42442	T	0.001	0.00255	T	9	0.090332806	0.15726	T	0.002956	0.06280	T	0.041	0.10877	0.363	0.36874	0.188950314367	0.18478	0.006856570517212237	0.00652	.	.	0.39984369278	0.25047	T	0.030984	0.21832	T	-0.3903	0.02678	T	-0.595762	0.13170	T	0.249219000339508	0.22838	T	0.329867	0.06895	T	0.045831554	0.07568	0.04355594	0.05446	0.045831554	0.07567	0.04355594	0.05445	-3.636	0.18379	T	.	.	0.703	0.73083	P	.	.	0.277242	0.06543	3.029	0.65004788508008349	0.07651	0.05648	0.11560	N	AEBI	0.038465	0.05449	N	-0.928320532449086	0.10184	0.4854479	-1.03452661311166	0.09032	0.4471464	1.40997501529345E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.28	-1.26	0.08892	-0.523000	0.06316	.	.	-0.053000	0.16966	0.000000	0.06391	.	.	0.004000	0.06068	0.4808:0.1671:0.1907:0.1614	0.746	0.00920	556	0.71678	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2228.44	34	chr1	152302787	.	A	T	2228.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.49;DP=340;ExcessHet=0;FS=2.866;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=0.995;SOR=0.938	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1291	6	0	1	0
chr1	152303392	152303392	C	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G11494A:p.E3832K	Ichthyosis vulgaris, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	2809300	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.050	0.00118239604572	0.0005	.	0.0002	9.61e-05	0	0	0	0.0003	0	0	0.0001488	23	154602	rs139279364	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0	0	3.826e-05	0	0.0001	0	0.0002	0.0002	0	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.707e-05	0.0002	0.0002	2.415e-05	0	0	0.0003	0	0	0	0.0003	0	0	0.099	0.30656	T	.	.	.	0.979	0.59044	D	0.973	0.72923	D	.	.	.	.	1	0.08975	N	2.635	0.77114	M	3.78	0.03836	T	-0.46	0.14978	N	0.196	0.21580	-1.0046	0.28577	T	0.014	0.05513	T	9	0.11571953	0.21810	T	0.001182	0.01509	T	0.050	0.13987	.	.	0.264081493735	0.26024	0.04359030919084624	0.04304	.	.	0.277258872986	0.07113	T	0.011617	0.10339	T	-0.538192	0.00343	T	-0.700334	0.05808	T	0.08465226739645	0.10571	T	0.60194	0.22516	T	0.03995303	0.05612	0.052166972	0.08543	0.03995303	0.05611	0.052166972	0.08542	-7.901	0.60393	D	.	.	0.152	0.33619	B	.	.	0.901834	0.12757	9.276	0.96572681099660185	0.30304	0.00282	0.01521	N	AEFBI	0.026542	0.02011	N	-0.563095498906896	0.20074	1.05561	-0.901427149553324	0.12060	0.6182043	6.4730963016291E-5	0.04366	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.52	-3.49	0.04424	-1.171000	0.03223	.	.	0.544000	0.25403	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2478:0.6076:0.1446	6.583	0.21802	557	0.71576	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000529	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	99.44	34	chr1	152303392	.	C	T	99.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.44;DP=343;ExcessHet=0;FS=2.452;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.52;ReadPosRankSum=0.266;SOR=0.188	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1291	6	0	1	0
chr1	152306286	152306286	A	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T8600G:p.I2867S	Ichthyosis vulgaris, Autosomal dominant	1	1398	122	1	0	124	0.0424658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	0.0139776	1.664e-05	0	0.0002	0	0	0	0	0	0.0026894	70	26028	rs562496957	0.0004	0.0017	0.0004	0.0004	0.0182	0.0004	0.0004	0.0169	0.0164	0.0182	0.0001	0	5.157e-05	0	0	4.499e-06	0.0002	4.649e-05	0.0001	0.0087	0.0001	0.0001	0.0007	8.399e-05	6.959e-05	0.0002	0.0001	0.0003	0	0.0003	0	0.0007	9.781e-05	0	1.508e-05	0	0	1.0	0.00964	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.695	0.00033	N	4.44	0.02139	T	1.22	0.01051	N	0.108	0.09349	-0.9320	0.43844	T	0.000	0.00114	T	9	0.005701959	0.00127	T	.	.	.	0.028	0.06331	.	.	0.0666544352282	0.05500	0.03254880392644141	0.03202	.	.	0.232478544116	0.02157	T	0.011277	0.10082	T	-0.338118	0.05519	T	-0.72346	0.04630	T	0.0612642933428966	0.07366	T	0.29767	0.05533	T	0.03513105	0.04077	0.070264496	0.14906	0.03513105	0.04077	0.070264496	0.14905	0.608	0.00192	T	.	.	0.072	0.04316	B	.	.	-0.356046	0.02382	0.263	0.50286818611689099	0.04358	0.00033	0.00296	N	AEFI	0.012106	0.00124	N	-1.93142500550348	0.00296	0.01268816	-1.86376335753537	0.00576	0.0255669	2.65845221984093E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.09	-2.54	0.05941	-0.796000	0.04680	.	.	-0.434000	0.05191	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3682:0.2705:0.3613:0.0	5.099	0.14083	561	0.71236	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	2784.24	1120	chr1	152306286	.	A	C	2784.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.362;DP=6170;ExcessHet=0.3476;FS=0.964;MLEAC=2;MLEAF=0.143;MQ=53.01;MQRankSum=-7.782;QD=1.05;ReadPosRankSum=7.35;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1416,125:1541:99:0|1:152306286_A_C:851,0,58257:152306286	5	0	2	0
chr1	152306292	152306292	-	CC	exonic	FLG	.	frameshift insertion	FLG:NM_002016:exon3:c.8593_8594insGG:p.A2865Gfs*28	Ichthyosis vulgaris, Autosomal dominant	0	1397	124	1	0	126	0.0431507	.	.	.	1019162	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1205280854	0.0003	0.0016	0.0004	0.0003	0.0150	0.0003	0.0003	0.0139	0.0134	0.0150	8.971e-05	0	5.141e-05	0	0	0	0.0001	3.488e-05	9.776e-05	0.0079	0.0001	8.565e-05	0.0006	5.861e-05	4.725e-05	0.0002	8.916e-05	0.0002	0	0.0002	0	0.0006	9.509e-05	0	1.482e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2514.2	1145	chr1	152306292	.	G	GCC	2514.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-3.079;DP=6199;ExcessHet=0.3476;FS=0.966;MLEAC=2;MLEAF=0.143;MQ=53.41;MQRankSum=-7.949;QD=0.93;ReadPosRankSum=7.51;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1440,124:1564:99:0|1:152306286_A_C:756,0,59666:152306286	5	0	2	0
chr1	152306295	152306296	TG	-	exonic	FLG	.	frameshift deletion	FLG:NM_002016:exon3:c.8590_8591del:p.H2864Cfs*5	Ichthyosis vulgaris, Autosomal dominant	1	1401	119	1	0	121	0.0413958	.	.	.	1019163	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1407703398	0.0003	0.0015	0.0003	0.0002	0.0132	0.0003	0.0003	0.0121	0.0117	0.0132	8.971e-05	0	2.574e-05	0	0	0	8.32e-05	3.487e-05	7.227e-05	0.0080	7.064e-05	7.397e-05	0.0005	3.847e-05	2.957e-05	8.069e-05	3.381e-05	0.0001	0	0.0001	0	0.0005	9.714e-05	0	1.499e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2326.2	1170	chr1	152306294	.	ATG	A	2326.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.943;DP=6237;ExcessHet=0.3476;FS=0.964;MLEAC=2;MLEAF=0.143;MQ=53.66;MQRankSum=-8.345;QD=0.85;ReadPosRankSum=6.52;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1456,121:1577:99:0|1:152306286_A_C:643,0,60626:152306286	5	0	2	0
chr1	152306299	152306299	T	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A8587T:p.T2863S	Ichthyosis vulgaris, Autosomal dominant	1	1406	114	1	0	116	0.0396175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00815051428836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1271569013	0.0003	0.0015	0.0003	0.0002	0.0126	0.0003	0.0002	0.0116	0.0112	0.0126	8.971e-05	0	2.571e-05	0	0	4.498e-06	9.984e-05	1.162e-05	0.0002	0.0082	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0001	0	0.0005	9.694e-05	0	4.498e-05	0.0005	0	0.75	0.03587	T	.	.	.	0.477	0.36687	P	0.241	0.38645	B	.	.	.	.	1	0.08975	N	1.105	0.28596	L	4.7	0.01673	T	0.28	0.04233	N	0.048	0.01999	-0.9323	0.43799	T	0.002	0.00526	T	9	0.06755382	0.09427	T	0.008151	0.21598	T	0.011	0.01250	0.317	0.29419	0.162503812791	0.15892	0.035396750250694796	0.03486	.	.	0.270178943872	0.06164	T	0.009579	0.08713	T	-0.5121	0.00488	T	-0.68323	0.06789	T	0.0273883762299825	0.01600	T	0.216078	0.02692	T	0.025629967	0.01522	0.028810205	0.01152	0.025629967	0.01522	0.028810205	0.01152	-3.074	0.11000	T	.	.	0.090	0.12655	B	.	.	-0.112232	0.03568	0.691	0.56914044250386053	0.05655	0.01371	0.04680	N	AEFI	0.036336	0.04825	N	-0.963681291731912	0.09387	0.4441023	-1.1154303731441	0.07405	0.3600705	1.18193506777854E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.59	0.398	0.15542	-0.081000	0.11285	.	.	-1.396000	0.01145	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2327:0.0:0.7673	3.431	0.06999	561	0.71236	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	2180.24	1175	chr1	152306299	.	T	A	2180.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.617;DP=6229;ExcessHet=0.3476;FS=2.188;MLEAC=2;MLEAF=0.143;MQ=53.99;MQRankSum=-8.701;QD=0.8;ReadPosRankSum=5.97;SOR=0.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1447,117:1564:99:0|1:152306286_A_C:557,0,60407:152306286	5	0	2	0
chr1	152307499	152307499	G	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.C7387G:p.H2463D	Ichthyosis vulgaris, Autosomal dominant	0	1494	28	0	0	28	0.00928382	.	.	.	1182784	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.030	.	0.0064	0.00399361	0.0085	0.0013	0.0031	0	0.0080	0.0113	0.0088	0.0099	0.0079559	1230	154602	rs113188294	0.0088	0.0088	0.0086	0.0090	0.0106	0.0087	0.0086	0.0101	0.0098	0.0012	0.0035	0.0090	2.52e-05	0.0099	0.0087	0.0094	0.0074	0.0106	0.0065	0.0065	0.0067	0.0062	0.0112	0.0061	0.0060	0.0094	0.0091	0.0011	0	0.0039	0.0084	0.0002	0.0088	0.0068	0.0100	0.0086	0.0112	0.04	0.42199	D	.	.	.	0.047	0.21998	B	0.023	0.19966	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	3.74	0.03951	T	-0.83	0.22727	N	0.136	0.13341	-0.9070	0.47215	T	0.003	0.00994	T	9	0.0056994855	0.00127	T	.	.	.	0.030	0.07022	.	.	0.0920862733494	0.08535	0.12276210705971255	0.12202	.	.	0.219760090113	0.01296	T	0.038544	0.24878	T	-0.627004	0.00100	T	-0.6611	0.08192	T	0.000184961975245628	0.00001	T	0.368563	0.08641	T	0.056045715	0.10974	0.06929913	0.14584	0.056045715	0.10974	0.06929913	0.14584	-8.594	0.65049	D	.	.	0.149	0.32922	B	.	.	0.177181	0.05651	2.102	0.59006915097301893	0.06123	0.01522	0.05020	N	AEFBI	0.026568	0.02019	N	-1.36666663012012	0.02956	0.1313167	-1.41553963925011	0.03096	0.1437654	1.25906150936836E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.85	0.755	0.17563	-1.078000	0.03524	.	.	-1.024000	0.01719	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2201:0.5539:0.226	5.540	0.16319	562	0.71143	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.007962	0.005102	0.000000	0.000000	0.000000	0.017241	0.021472	0.011364	0.07143	6214.44	317	chr1	152307499	.	G	C	6214.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.276;DP=2290;ExcessHet=0;FS=1.741;MLEAC=1;MLEAF=0.071;MQ=59.86;MQRankSum=2.22;QD=13.9;ReadPosRankSum=-1.428;SOR=0.766	GT:AD:DP:GQ:PL	0/1:226,221:447:99:6225,0,6362	6	0	1	0
chr1	152307612	152307612	T	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A7274C:p.E2425A	Ichthyosis vulgaris, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	2809348	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.058	0.00386313804632	0.0005	.	0.0002	9.61e-05	0	0	0	0.0003	0	0	0.0001423	22	154602	rs148955202	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0	0	3.826e-05	0	0.0001	0	0.0002	0.0002	0	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.261e-05	0.0002	0.0002	0	0	0	0.0003	0	0	0	0.0003	0	0	0.062	0.36912	T	.	.	.	0.779	0.44223	P	0.191	0.36391	B	.	.	.	.	1	0.08975	N	2.96	0.85114	M	4.69	0.01694	T	-0.23	0.10656	N	0.198	0.21839	-0.9320	0.43844	T	0.002	0.00769	T	9	0.066376776	0.09093	T	0.003863	0.09055	T	0.058	0.16647	.	.	0.356281029322	0.35234	0.09024846058425597	0.08957	.	.	0.232913732529	0.02190	T	0.014972	0.12647	T	-0.444747	0.01213	T	-0.567757	0.15655	T	0.0615408699773032	0.07409	T	0.446155	0.12501	T	0.075586475	0.17040	0.048691697	0.07286	0.075586475	0.17040	0.048691697	0.07286	-8.073	0.61567	D	.	.	0.186	0.40246	B	.	.	0.927955	0.13033	9.535	0.90344943556703805	0.19609	0.02639	0.07237	N	AEFBI	0.034189	0.04193	N	-0.589207196957557	0.19272	1.007291	-0.757147918437598	0.15546	0.8181796	1.25916639349012E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.55	0.823	0.17950	-1.437000	0.02525	.	.	0.560000	0.28382	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.2016:0.2218:0.0:0.5766	2.507	0.04364	562	0.71143	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001063	0.000000	0.000000	0.000000	0.000000	0.000000	0.006173	0.000000	0.07143	245.44	231	chr1	152307612	.	T	G	245.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.917;DP=2051;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=55.67;MQRankSum=1.85;QD=10.23;ReadPosRankSum=-0.527;SOR=0.473	GT:AD:DP:GQ:PL	0/0:426,0:426:99:0,120,1800	6	0	1	0
chr1	152309431	152309431	A	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T5455C:p.S1819P	Ichthyosis vulgaris, Autosomal dominant	0	1507	15	0	0	15	0.00495213	.	.	.	1164060	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.022	0.0042655887967	.	.	1.648e-05	0	0	0	0	1.498e-05	0	6.064e-05	3.84e-05	1	26028	rs754699295	5.971e-05	0.0028	5.519e-05	6.428e-05	0.0008	4.949e-05	4.563e-05	0.0006	0.0005	2.999e-05	2.261e-05	0.0001	0.0008	3.784e-05	0	3.365e-05	3.364e-05	0.0001	0.0008	0.0057	0.0007	0.0009	0.0035	0.0007	0.0006	0.0021	0.0017	0.0002	0.0012	0.0018	0.0003	0.0029	0.0002	0	0.0008	0.0005	0.0035	0.035	0.43708	D	.	.	.	0.963	0.55692	D	0.702	0.54226	P	.	.	.	.	1	0.08975	N	1.83	0.48079	L	3.81	0.03754	T	-2.99	0.62151	D	0.181	0.19593	-0.9475	0.41397	T	0.009	0.03315	T	9	0.09409812	0.16705	T	0.004266	0.10310	T	0.022	0.04323	.	.	0.333906830038	0.33007	0.0059005026785626	0.00559	.	.	0.276070654392	0.06950	T	0.08566	0.37551	T	-0.258639	0.13059	T	-0.609294	0.12041	T	0.335630357265472	0.26450	T	0.347365	0.07649	T	0.37962916	0.59289	0.29499885	0.55531	0.37962916	0.59290	0.29499885	0.55530	-6.129	0.47346	T	.	.	0.227	0.45942	B	.	.	2.071872	0.26345	17.09	0.94045235846636877	0.24169	0.02034	0.06095	N	AEFBI	0.054419	0.09892	N	-0.360126105977561	0.26901	1.471835	-0.544381783131769	0.20954	1.131363	4.64081277013022E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.0	2.82	0.32061	0.771000	0.26294	.	.	0.361000	0.20101	0.005000	0.17040	0.000000	0.08366	0.018000	0.11154	0.8853:0.0:0.1147:0.0	6.509	0.21409	565	0.70868	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003719	0.020408	0.000000	0.004132	0.000000	0.000000	0.000000	0.000000	0.07143	471.44	285	chr1	152309431	.	A	G	471.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=5.76;DP=2196;ExcessHet=0;FS=16.957;MLEAC=1;MLEAF=0.071;MQ=59.13;MQRankSum=-10.66;QD=2.1;ReadPosRankSum=-1.232;SOR=2.178	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:454,0:454:99:.:.:0,120,1800:.	6	0	1	0
chr1	152309635	152309635	T	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A5251G:p.T1751A	Ichthyosis vulgaris, Autosomal dominant	0	1484	38	0	0	38	0.0126414	.	.	.	2758319	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.022	0.00137596557186	.	0.000199681	0.0002	9.61e-05	8.637e-05	0.0003	0	0.0002	0	6.056e-05	0.0001423	22	154602	rs577966299	0.0001	0.0073	0.0001	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0002	2.264e-05	0.0001	0.0005	1.894e-05	0.0002	0.0001	3.364e-05	0.0002	0.0006	0.0096	0.0007	0.0006	0.0022	0.0005	0.0005	0.0012	0.0009	0.0001	0.0012	0.0010	0	0.0010	0.0004	0.0035	0.0008	0.0010	0.0022	0.61	0.05468	T	.	.	.	0.003	0.11197	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-0.255	0.03828	N	4.4	0.02215	T	-0.24	0.10833	N	0.043	0.01577	-0.9024	0.47739	T	0.001	0.00222	T	9	0.015293419	0.00321	T	0.001376	0.01986	T	0.022	0.04323	0.063	0.00257	0.0666544352282	0.05500	0.010453316840408004	0.01006	.	.	0.21237513423	0.00916	T	0.01836	0.14816	T	-0.437997	0.01329	T	-0.866929	0.00772	T	0.0157041039026333	0.00362	T	0.221078	0.02846	T	0.019434154	0.00474	0.02615014	0.00689	0.019434154	0.00473	0.02615014	0.00689	-1.595	0.01970	T	.	.	0.069	0.03093	B	.	.	-1.585595	0.00247	0.004	0.3324786050692059	0.01970	0.00143	0.00871	N	AEFBI	0.017329	0.00447	N	-2.16345743713501	0.00092	0.003956945	-2.24016011655303	0.00091	0.003993062	0.149966739545292	0.17423	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.93	-7.86	0.01052	-4.573000	0.00246	.	.	-0.693000	0.04107	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3589:0.1539:0.1205:0.3667	0.643	0.00761	565	0.70868	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	892.44	265	chr1	152309635	.	T	C	892.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.9;DP=2238;ExcessHet=0;FS=3.148;MLEAC=1;MLEAF=0.071;MQ=59.02;MQRankSum=-10.78;QD=3.33;ReadPosRankSum=-3.883;SOR=0.467	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:455,0:455:99:.:.:0,120,1800:.	6	0	1	0
chr1	152310577	152310577	G	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.C4309T:p.R1437C	Ichthyosis vulgaris, Autosomal dominant	0	1487	32	2	1	37	0.0119601	.	.	.	904369	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.040	.	0.0043	0.00479233	0.0050	0.0008	0.0055	0.0001	0.0014	0.0062	0.0044	0.0061	0.0049353	763	154602	rs12750571	0.0060	0.0060	0.0058	0.0061	0.0248	0.0058	0.0058	0.0215	0.0202	0.0012	0.0051	0.0034	0.0001	0.0014	0.0248	0.0064	0.0063	0.0068	0.0048	0.0048	0.0049	0.0046	0.0070	0.0045	0.0044	0.0065	0.0063	0.0012	0.0264	0.0061	0.0046	0.0002	0.0014	0.0306	0.0070	0.0048	0.0064	0.014	0.53172	D	.	.	.	0.999	0.77913	D	0.635	0.51908	P	.	.	.	.	1	0.08975	N	2.86	0.83026	M	4.65	0.01779	T	-1.23	0.31170	N	0.266	0.30118	-0.9528	0.40485	T	0.005	0.01578	T	9	0.008905023	0.00202	T	.	.	.	0.040	0.10527	.	.	0.278968121808	0.27521	0.015595421109007294	0.01515	.	.	0.213625520468	0.00975	T	0.089724	0.38434	T	-0.578702	0.00196	T	-0.598915	0.12902	T	0.0278192646706579	0.01662	T	0.649435	0.26018	T	0.08136459	0.18690	0.043253686	0.05338	0.08136459	0.18690	0.043253686	0.05338	-10.485	0.76761	D	.	.	0.129	0.27553	B	.	.	1.880204	0.23884	16.19	0.97162728186922065	0.32638	0.01478	0.04921	N	AEFDBI	0.040004	0.05890	N	-0.569226267034253	0.19884	1.044184	-0.851837246202194	0.13244	0.6859478	1.30223998648331E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.84	-0.934	0.09897	0.417000	0.20934	.	.	-0.310000	0.06091	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1466:0.0:0.399:0.4544	3.196	0.06240	586	0.69252	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	2608.44	232	chr1	152310577	.	G	A	2608.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.55;DP=2035;ExcessHet=0;FS=1.077;MLEAC=1;MLEAF=0.071;MQ=59.91;MQRankSum=-0.586;QD=12.66;ReadPosRankSum=-0.001;SOR=0.814	GT:AD:DP:GQ:PL	0/0:435,0:435:99:0,120,1800	6	0	1	0
chr1	152310950	152310950	A	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T3936A:p.H1312Q	Ichthyosis vulgaris, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1175753	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.035	.	0.0058	0.00658946	0.0018	0.0194	0.0011	0	0	2.997e-05	0	6.056e-05	0.0017335	268	154602	rs115324644	0.0006	0.0006	0.0007	0.0005	0.0192	0.0005	0.0005	0.0179	0.0175	0.0192	0.0012	0	0	0	0.0003	5.216e-05	0.0013	0.0001	0.0052	0.0052	0.0054	0.0050	0.0181	0.0049	0.0048	0.0170	0.0166	0.0181	0	0.0018	0	0	0	0	1.472e-05	0.0038	0	0.016	0.51853	D	.	.	.	0.064	0.23455	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	1.995	0.54099	M	4.48	0.02067	T	-1.52	0.36980	N	0.156	0.16168	-0.9117	0.46645	T	0.002	0.00585	T	9	0.0034829676	0.00062	T	.	.	.	0.035	0.08770	0.183	0.09131	0.0551355673512	0.04727	0.004276470813270199	0.00401	.	.	0.314964830875	0.12658	T	0.02445	0.18471	T	-0.751191	0.00017	T	-0.836215	0.01157	T	0.00641396402820345	0.00071	T	0.314169	0.06189	T	0.057711255	0.11521	0.067429624	0.13947	0.057711255	0.11520	0.067429624	0.13946	-7.372	0.56707	T	.	.	0.164	0.36174	B	.	.	-1.012167	0.00754	0.023	0.64466170480773366	0.07501	0.00125	0.00780	N	AEFBI	0.027289	0.02204	N	-1.80689990925158	0.00528	0.02275175	-1.99204984947487	0.00318	0.01405679	0.847016255503387	0.24972	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.82	-5.64	0.02269	-3.306000	0.00574	.	.	-0.495000	0.05035	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1665:0.2403:0.4741:0.1191	4.018	0.09140	589	0.68969	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.002643	0.005051	0.004076	0.004098	0.000000	0.000000	0.000000	0.000000	0.07143	4737.44	242	chr1	152310950	.	A	T	4737.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.722;DP=2009;ExcessHet=0;FS=7.38;MLEAC=1;MLEAF=0.071;MQ=59.96;MQRankSum=0;QD=12.31;ReadPosRankSum=1.14;SOR=0.445	GT:AD:DP:GQ:PL	0/0:418,0:418:99:0,120,1800	6	0	1	0
chr1	152311534	152311534	T	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A3352C:p.I1118L	Ichthyosis vulgaris, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00231703527819	.	0.000798722	0.0009	0.0006	8.637e-05	0.0015	0.0047	0.0007	0.0011	0.0005	9.06e-05	14	154602	rs151140943	0.0006	0.0006	0.0006	0.0006	0.0010	0.0006	0.0005	0.0007	0.0006	0.0001	0.0003	3.826e-05	0.0010	0.0048	0.0002	0.0004	0.0008	0.0003	0.0010	0.0010	0.0007	0.0013	0.0031	0.0009	0.0008	0.0020	0.0016	0.0002	0	0.0002	0.0003	0.0031	0.0066	0	0.0007	0.0005	0.0006	0.71	0.04044	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.35	0.00085	N	4.74	0.01604	T	0.14	0.05405	N	0.067	0.03956	-0.9595	0.39274	T	0.000	0.00075	T	9	0.00555408	0.00123	T	0.002317	0.04479	T	0.006	0.00375	.	.	0.0666544352282	0.05500	0.0074878760501136754	0.00714	.	.	0.26697999239	0.05751	T	0.024666	0.18594	T	-0.726574	0.00025	T	-0.822617	0.01400	T	0.00718962237721429	0.00082	T	0.220878	0.02837	T	0.03923099	0.05378	0.033710513	0.02311	0.03923099	0.05378	0.033710513	0.02310	1.39	0.00091	T	.	.	0.079	0.07460	B	.	.	-0.767701	0.01172	0.056	0.5643010792063935	0.05550	0.00076	0.00525	N	AEFGBI	0.019781	0.00719	N	-2.92711555578255	0.00001	6.96606e-05	-2.91823907035089	0.00002	0.0001058525	0.999995189276895	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.46	-4.91	0.02857	-4.317000	0.00290	.	.	-3.686000	0.00066	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1011:0.4441:0.135:0.3198	3.371	0.06799	590	0.68897	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001589	0.000000	0.000000	0.000000	0.000000	0.000000	0.012270	0.000000	0.07143	359.44	231	chr1	152311534	.	T	G	359.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.205;DP=2065;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=52.55;MQRankSum=-2.856;QD=12.39;ReadPosRankSum=1.08;SOR=0.569	GT:AD:DP:GQ:PL	0/0:435,0:435:99:0,120,1800	6	0	1	0
chr1	152314011	152314011	C	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G875A:p.R292H	Ichthyosis vulgaris, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0018094517613	7.7e-05	0.000199681	0.0001	0	0	0.0002	0	0.0001	0	0.0002	0.0001035	16	154602	rs200504242	0.0001	0.0001	0.0001	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	2.987e-05	0.0002	0	5.038e-05	0	0.0009	0.0001	8.279e-05	0.0002	5.909e-05	5.906e-05	6.423e-05	5.37e-05	0.0002	3.075e-05	2.208e-05	3.243e-05	1.91e-05	9.623e-05	0	6.535e-05	0	0.0002	0	0	4.409e-05	0	0	0.104	0.29959	T	.	.	.	0.685	0.41537	P	0.084	0.29270	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	5.0	0.01319	T	-0.07	0.08033	N	0.091	0.06990	-0.8932	0.48650	T	0.001	0.00287	T	9	0.030632883	0.01191	T	0.001809	0.03115	T	0.066	0.19193	.	.	0.107399877778	0.10242	0.014747042759860728	0.01431	.	.	0.206758081913	0.00681	T	0.00954	0.08679	T	-0.603975	0.00138	T	-0.811857	0.01624	T	0.0170514483235193	0.00453	T	0.419858	0.11135	T	0.020021552	0.00547	0.032129373	0.01901	0.020021552	0.00546	0.032129373	0.01901	-2.986	0.10031	T	.	.	0.107	0.19958	B	.	.	-0.261949	0.02790	0.380	0.43654348169950119	0.03301	0.00013	0.00170	N	AEFBI	0.015484	0.00297	N	-1.25920684573531	0.04179	0.1881492	-1.40850801187193	0.03167	0.1471621	8.25397902592121E-5	0.04703	0.553676	0.25195	0	0.624306	0.53593	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.56	-3.55	0.04343	-1.006000	0.03781	.	.	-1.127000	0.01463	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5946:0.0:0.4054	8.024	0.29586	584	0.69381	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	4586.44	38	chr1	152314011	.	C	T	4586.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.44;DP=673;ExcessHet=0;FS=4.629;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=-0.066;SOR=0.513	GT:AD:DP:GQ:PL	0/1:179,181:360:99:4597,0,4073	6	0	1	0
chr1	152314270	152314270	C	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G616C:p.E206Q	Ichthyosis vulgaris, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00695857441232	.	.	1.65e-05	0	0	0.0001	0	1.5e-05	0	0	1.29e-05	2	154602	rs755239247	3.421e-06	3.42e-06	2.723e-06	4.126e-06	2.519e-05	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	2.519e-05	0	0	2.698e-06	0	1.159e-05	3.948e-05	3.942e-05	2.572e-05	5.39e-05	8.825e-05	1.717e-05	1.131e-05	3.763e-05	2.576e-05	0	0	0	0	0	0	0	8.825e-05	0	0	0.052	0.39097	T	.	.	.	0.826	0.45919	P	0.34	0.42389	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	5.9	0.00626	T	-0.15	0.09297	N	0.076	0.05037	-0.8895	0.48978	T	0.001	0.00188	T	9	0.061300904	0.07666	T	0.006959	0.18430	T	0.064	0.18567	0.257	0.19845	0.209622950755	0.20551	0.01772124192807372	0.01727	.	.	0.221751913428	0.01414	T	0.015868	0.13224	T	-0.433271	0.01417	T	-0.691012	0.06330	T	0.108493445086646	0.13266	T	0.441056	0.12198	T	0.042819764	0.06563	0.029437916	0.01282	0.042819764	0.06563	0.029437916	0.01282	-4.822	0.34847	T	.	.	0.135	0.29422	B	.	.	-0.618748	0.01521	0.097	0.46806367894881418	0.03777	0.04151	0.09639	N	AEFDBHCI	0.024599	0.01548	N	-1.28945240228502	0.03801	0.1704631	-1.51213083864641	0.02251	0.1032141	0.999972476149992	0.50053	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.33	-8.66	0.00751	-0.582000	0.05907	.	.	-2.283000	0.00327	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.22:0.2401:0.3314:0.2086	0.980	0.01344	584	0.69381	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1752.44	38	chr1	152314270	.	C	G	1752.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.56;DP=345;ExcessHet=0;FS=0.628;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-0.48;SOR=0.608	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr1	152351526	152351526	T	C	exonic	FLG2	.	nonsynonymous SNV	FLG2:NM_001014342:exon3:c.A6260G:p.H2087R	.	434	1048	40	0	0	40	0.0187266	.	.	.	2805939	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.024	.	0.0038	0.00479233	0.0068	0.0012	0.0097	0	0.0008	0.0057	0.0121	0.0187	0.0062677	969	154602	rs141384852	0.0066	0.0066	0.0059	0.0073	0.0319	0.0065	0.0065	0.0281	0.0267	0.0014	0.0071	0.0051	5.05e-05	0.0005	0.0319	0.0063	0.0071	0.0182	0.0043	0.0043	0.0047	0.0039	0.0132	0.0040	0.0039	0.0106	0.0096	0.0016	0.0011	0.0051	0.0029	0.0002	0.0009	0.0104	0.0059	0.0091	0.0132	0.064	0.36509	T	0.246	0.23984	T	0.015	0.17086	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	0.99	0.25021	L	1.18	0.37746	T	-1.78	0.42001	N	0.2	0.22098	-0.9826	0.34398	T	0.025	0.10777	T	9	0.00496462	0.00106	T	.	.	.	0.024	0.04979	.	.	0.132336055621	0.12781	0.05537557425557988	0.05478	0.212961028099	0.23803	0.307520180941	0.11533	T	0.006229	0.05666	T	-0.556913	0.00265	T	-0.558464	0.16521	T	0.00240712079536758	0.00025	T	0.310869	0.06046	T	0.049321175	0.08740	0.052928723	0.08818	0.049321175	0.08740	0.052928723	0.08818	-8.854	0.66752	D	.	.	0.131	0.28261	B	.	.	1.380453	0.17916	13.44	0.79875974500555302	0.12941	0.06125	0.12103	N	AEFBCI	0.036976	0.05012	N	-1.05045716834564	0.07579	0.3525285	-1.07817471328921	0.08131	0.398442	2.41949346052646E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.69	2.29	0.27658	0.107000	0.15212	.	.	-0.668000	0.04312	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.1717:0.0939:0.0:0.7344	4.430	0.10947	565	0.70868	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.027551	0.045455	0.019022	0.037975	0.100000	0.025862	0.018293	0.018939	0.07143	381.44	145	chr1	152351526	.	T	C	381.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.33;DP=1048;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.703;SOR=0.804	GT:AD:DP:GQ:PL	0/0:214,0:214:99:0,120,1800	6	0	1	0
chr1	152354961	152355191	GAACTTGACCCATGTTGACCATAGCCAGATGACTGACTTGAGCCAGAACCATGTTGGCCATAGCTAGACTGATGTGATCTAGACTCATGTTGTCCAAAACCAGAGTATTGTCCTGAGCCAGTCCCATGTTGTCCAAAGCCACTGGACTGACCTGAGCCTGATCCATGTTGTCCAAAGCCAGAGTATTGACCTGAGCTTGACCTGTGTTGTCCAAAGCCAGATGTCTGTCCC	-	exonic	FLG2	.	nonframeshift deletion	FLG2:NM_001014342:exon3:c.2595_2825del:p.S869_T945del	.	431	1042	9	40	0	89	0.0409572	.	.	.	970660	Peeling_skin_syndrome_6	MONDO:MONDO:0054852,MedGen:C4748093,OMIM:618084	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0191	0.0006	0.0400	0.0837	0.0047	0.0089	0.0187	0.0291	.	.	.	.	0.0081	0.0082	0.0075	0.0087	0.0761	0.0080	0.0079	0.0738	0.0729	0.0005	0.0381	0.0193	0.0761	0.0037	0.0142	0.0032	0.0101	0.0253	0.0039	0.0046	0.0039	0.0039	0.0185	0.0037	0.0035	0.0154	0.0143	0.0005	0.0011	0.0088	0.0145	0.0185	0.0033	0.0076	0.0033	0.0015	0.0063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	19774.2	217	chr1	152354960	.	TGAACTTGACCCATGTTGACCATAGCCAGATGACTGACTTGAGCCAGAACCATGTTGGCCATAGCTAGACTGATGTGATCTAGACTCATGTTGTCCAAAACCAGAGTATTGTCCTGAGCCAGTCCCATGTTGTCCAAAGCCACTGGACTGACCTGAGCCTGATCCATGTTGTCCAAAGCCAGAGTATTGACCTGAGCTTGACCTGTGTTGTCCAAAGCCAGATGTCTGTCCC	T	19774.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.5;DP=2197;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=57.48;MQRankSum=2.64;QD=33.63;ReadPosRankSum=1.26;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:392,0:392:99:.:.:0,120,1800:.	6	1	0	0
chr1	152354993	152354993	C	0	exonic	FLG2	.	.	.	.	444	778	241	13	46	313	0.146462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	11219.2	382	chr1	152354993	.	C	*	11219.2	.	AC=2;AF=0.2;AN=10;BaseQRankSum=4.32;DP=2929;ExcessHet=0.0921;FS=0.532;MLEAC=2;MLEAF=0.2;MQ=59;MQRankSum=-4.624;QD=7.12;ReadPosRankSum=-0.344;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:391,0:609:99:0|1:152354993_C_T:6698,7873,22876:152354993	4	1	0	2
chr1	152355026	152355026	A	0	exonic	FLG2	.	.	.	.	449	805	212	10	46	278	0.12595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	6069.23	319	chr1	152355026	.	A	*	6069.23	.	AC=2;AF=0.2;AN=10;BaseQRankSum=4.84;DP=2866;ExcessHet=0.0921;FS=0.537;MLEAC=2;MLEAF=0.2;MQ=58.97;MQRankSum=-6.447;QD=3.76;ReadPosRankSum=-5.382;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:371,0:485:99:0|1:152354993_C_T:3609,4726,20214:152354993	4	1	0	2
chr1	152355050	152355050	T	0	exonic	FLG2	.	.	.	.	451	858	159	8	46	221	0.0925436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1060.23	299	chr1	152355050	.	T	*	1060.23	.	AC=2;AF=0.2;AN=10;BaseQRankSum=6.17;DP=2674;ExcessHet=0.0921;FS=0;MLEAC=2;MLEAF=0.2;MQ=59.06;MQRankSum=-9.543;QD=0.69;ReadPosRankSum=-6.237;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:382,0:418:99:0|1:152354993_C_T:362,1512,17552:152354993	4	1	0	2
chr1	152358862	152358862	A	C	exonic	FLG2	.	nonsynonymous SNV	FLG2:NM_001014342:exon2:c.T23G:p.V8G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.0209128610664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.986	0.76916	D	.	.	.	.	0.999941	0.51968	D	2.645	0.77386	M	2.82	0.10871	T	-6.57	0.91912	D	0.581	0.60241	-1.1642	0.00659	T	0.047	0.20275	T	9	0.75173163	0.75687	D	0.020913	0.43593	T	0.274	0.59007	0.741	0.87317	0.361958692863	0.35806	0.42381781108691113	0.42298	0.029538132252	0.03033	0.397414088249	0.24709	T	0.013707	0.11803	T	0.0347009	0.56349	T	-0.187931	0.55784	T	0.978758931159973	0.72484	D	0.544146	0.18565	T	0.9109156	0.92380	0.8573952	0.92002	0.9109156	0.92381	0.8573952	0.92003	-9.55	0.71170	D	.	.	0.909	0.83374	P	.	.	3.758648	0.53913	23.4	0.99007570366533371	0.50293	0.92898	0.56818	D	AEFBI	0.614017	0.60149	D	0.636802482619251	0.75517	6.320027	0.607298814103239	0.75470	6.315981	0.608422360232043	0.21784	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.26	5.26	0.73479	3.134000	0.50233	.	.	0.756000	0.94297	0.575000	0.27546	0.909000	0.28100	0.979000	0.57723	1.0:0.0:0.0:0.0	11.859	0.51732	561	0.71236	S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain|S-100	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1219.53	37	chr1	152358862	.	A	C	1219.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.43;DP=315;ExcessHet=0;FS=0.688;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=-0.69;SOR=0.827	GT:AD:DP:GQ:PL	0/1:70,53:123:99:1230,0,1610	6	0	1	0
chr1	152511721	152511721	G	A	exonic	LCE5A	.	nonsynonymous SNV	LCE5A:NM_178438:exon2:c.G187A:p.E63K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0052	0.00638978	0.0018	0.0196	0.0008	0	0	1.501e-05	0	0.0001	0.00174	269	154602	rs144519020	0.0006	0.0006	0.0007	0.0005	0.0211	0.0006	0.0005	0.0198	0.0193	0.0211	0.0011	0	0	0	0.0002	2.518e-05	0.0013	9.275e-05	0.0054	0.0055	0.0056	0.0052	0.0191	0.0051	0.0050	0.0180	0.0176	0.0191	0	0.0016	0	0	0	0	2.941e-05	0.0043	0	0.541	0.06779	T	0.785	0.04260	T	0.015	0.17086	B	0.016	0.17743	B	.	.	.	.	0.999976	0.18612	N	0.345	0.11182	N	3.88	0.03570	T	-0.4	0.13805	N	0.261	0.29544	-0.9059	0.47343	T	0.003	0.00929	T	9	0.0039749146	0.00077	T	.	.	.	0.035	0.08770	.	.	0.233785782151	0.22967	0.05617611203100091	0.05558	0.187262311553	0.21039	.	.	.	0.004792	0.04206	T	-0.66705	0.00057	T	-0.714691	0.05056	T	0.0158639320604737	0.00372	T	0.39556	0.09932	T	0.09297168	0.21824	0.13636254	0.32624	0.09297168	0.21824	0.13636254	0.32623	-4.108	0.25408	T	.	.	0.171	0.37520	B	.	.	2.062979	0.26232	17.04	0.9718162617310756	0.32722	0.81389	0.40803	D	AEFBI	0.095653	0.19323	N	-0.429903297385496	0.24426	1.31883	-0.269855116199645	0.29097	1.627461	6.48631545004086E-4	0.07527	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.22	4.31	0.50718	3.343000	0.51884	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.181000	0.21328	0.0945:0.0:0.9055:0.0	9.572	0.38596	711	0.56613	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	1825.45	39	chr1	152511721	.	G	A	1825.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.615;DP=328;ExcessHet=0;FS=2.285;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-0.819;SOR=0.518	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	6	0	1	0
chr1	152515515	152515515	-	GGCTGCTGCGGCGACTCA	exonic	CRCT1	.	nonframeshift insertion	CRCT1:NM_019060:exon2:c.132_133insGGCTGCTGCGGCGACTCA:p.G54_S55insDSGCCG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0155751	0.0009	0.0065	0.0002	0.0055	0	0	0.0034	0.0005	0.0001537	4	26028	rs564362000	0.0011	0.0011	0.0012	0.0009	0.0206	0.0010	0.0010	0.0193	0.0188	0.0206	0.0012	0	0.0090	0	0.0002	4.147e-05	0.0040	0.0017	0.0067	0.0068	0.0066	0.0067	0.0253	0.0063	0.0062	0.0217	0.0204	0.0196	0	0.0020	0	0.0253	0	0	1.47e-05	0.0047	0.0068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	314.59	22	chr1	152515515	.	G	GGGCTGCTGCGGCGACTCA	314.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.415;DP=187;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-0.108;SOR=0.773	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1259	6	0	1	0
chr1	152664386	152664387	GT	-	exonic	LCE2D	.	frameshift deletion	LCE2D:NM_178430:exon2:c.281_282del:p.S94Rfs*27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	49.4	34	chr1	152664385	.	AGT	A	49.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.83;MQRankSum=0.253;QD=4.94;ReadPosRankSum=-1.593;SOR=0.169	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr1	152719934	152719934	C	T	exonic	C1orf68	.	nonsynonymous SNV	C1orf68:NM_001024679:exon1:c.C413T:p.S138F	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00263165170528	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1214888888	3.572e-06	3.42e-06	2.819e-06	4.345e-06	1.262e-05	1.05e-06	7.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.853e-06	3.441e-05	1.262e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.058	0.46182	T	.	.	.	.	.	.	0.479973	0.12177	N	0.706830	1	0.08975	N	.	.	.	1.86	0.24285	T	-1.96	0.45404	N	0.256	0.28965	-1.0561	0.12750	T	0.026	0.11087	T	10	0.14039296	0.26685	T	0.002632	0.05349	T	0.025	0.05312	0.173	0.07894	0.184867976434	0.18130	0.20818544504664566	0.20734	.	.	.	.	.	.	.	.	-0.289205	0.09716	T	-0.525421	0.19746	T	0.354126900434494	0.27180	T	0.506149	0.16021	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.32780	B	.	.	1.606671	0.20534	14.79	0.98721424156705473	0.45215	0.03809	0.09143	N	AEFBI	0.034486	0.04281	N	-0.458957804591828	0.23438	1.258614	-0.571456930458873	0.20239	1.089484	0.00583874782836862	0.11056	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.22	3.29	0.36801	0.596000	0.23744	.	.	0.599000	0.40250	0.003000	0.16062	0.027000	0.21108	0.030000	0.13115	0.0:0.8939:0.0:0.1061	8.553	0.32624	702	0.57624	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	140.44	34	chr1	152719934	.	C	T	140.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.016;DP=739;ExcessHet=0;FS=2.808;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-2.823;SOR=1.108	GT:AD:DP:GQ:PL	0/0:187,0:187:99:0,120,1800	6	0	1	0
chr1	152798136	152798136	C	A	exonic	LCE1D	.	stopgain	LCE1D:NM_178352:exon2:c.C342A:p.C114X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.467e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001619	0.38497	N	0.000000	0.740141	0.33813	D	.	.	.	.	.	.	.	.	.	0.079	0.05414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.522349	0.94964	D	0.512542	0.94890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	5.985224	0.94262	34	0.98553007601441389	0.42871	0.61641	0.31544	D	AEFBI	0.084009	0.17023	N	0.588151230559307	0.72435	5.805238	0.338073403859829	0.57792	3.946395	1.9169900890813E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.93	1.98	0.25351	-0.378000	0.07503	.	.	0.580000	0.29708	0.887000	0.31133	0.040000	0.21562	0.040000	0.14268	0.0:0.6951:0.0:0.3049	7.209	0.25097	783	0.47268	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	35.34	34	chr1	152798136	.	C	A	35.34	.	AC=2;AF=0.2;AN=10;DP=149;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=53.03;QD=17.67;SOR=0.693	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	4	1	0	2
chr1	152910506	152910506	C	0	exonic	IVL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	49.09	13	chr1	152910506	.	C	*	49.09	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-0.038;DP=182;ExcessHet=1.383;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=-1.413;SOR=0.611	GT:AD:DP:GQ:PL	0/1:27,16:43:99:406,0,867	3	0	2	2
chr1	152972074	152972074	C	A	exonic	SPRR4	.	nonsynonymous SNV	SPRR4:NM_173080:exon2:c.C184A:p.P62T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.00421036522444	.	.	.	.	.	.	.	.	.	.	.	.	.	rs201775282	1.368e-06	1.368e-06	0	2.75e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	0.997	0.70673	D	0.939	0.67449	D	0.929157	0.08433	N	0.954858	0.985934	0.24664	N	.	.	.	2.86	0.10482	T	-7.0	0.93697	D	0.191	0.20925	-1.0830	0.06776	T	0.041	0.17700	T	9	0.21751636	0.38366	T	0.00421	0.10153	T	0.097	0.27909	0.149	0.05238	0.110392049598	0.10638	0.009713096195936261	0.00933	0.00368128596525	0.00316	.	.	.	0.070377	0.33944	T	-0.248055	0.14339	T	-0.497236	0.22634	T	0.591302096843719	0.36057	D	0.512749	0.16428	T	0.46061102	0.64709	0.4637216	0.68869	0.46061102	0.64709	0.4637216	0.68869	-4.546	0.31486	T	.	.	0.072	0.04356	B	.	.	0.889697	0.12634	9.157	0.74436478686872409	0.10695	0.11528	0.16693	N	AEFBI	0.039802	0.05833	N	0.0332130897786088	0.43370	2.631346	-0.133746130419857	0.34039	1.953654	0.999258945674156	0.38906	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.52	3.52	0.39415	0.250000	0.18007	.	.	0.549000	0.26987	0.000000	0.06391	0.001000	0.17328	0.688000	0.33778	0.0:1.0:0.0:0.0	10.873	0.46104	795	0.45444	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	5493.22	33	chr1	152972074	.	C	A	5493.22	.	AC=2;AF=0.143;AN=14;DP=372;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.02;SOR=0.947	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1164	6	1	0	0
chr1	152985421	152985421	C	T	exonic	SPRR1A	.	nonsynonymous SNV	SPRR1A:NM_001199828:exon2:c.C191T:p.P64L,SPRR1A:NM_005987:exon2:c.C191T:p.P64L	.	425	1091	6	0	0	6	0.00274223	.	.	.	4079312	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.207	0.0169719140992	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1377042480	8.392e-06	8.343e-06	1.392e-06	1.546e-05	0.0002	4.48e-06	3.54e-06	3.834e-05	2.705e-05	0	0	0	0	0	0.0002	9.205e-07	5.07e-05	8.28e-05	1.318e-05	1.314e-05	2.575e-05	0	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0	0.0002	0.002	0.72154	D	0.004	0.74150	D	0.999	0.77913	D	0.971	0.72444	D	0.211542	0.16353	N	0.451634	0.948109	0.37596	D	.	.	.	1.68	0.27184	T	-8.26	0.96915	D	0.565	0.58883	-0.9979	0.30507	T	0.113	0.40307	T	9	0.73632383	0.74645	D	0.016972	0.38471	T	0.207	0.49555	0.647	0.78436	0.580347915982	0.57706	0.08803059417083679	0.08736	.	.	0.334099113941	0.15552	T	0.145141	0.48211	T	-0.229198	0.16755	T	-0.397876	0.33631	T	0.918399810791016	0.57664	D	0.959904	0.84889	D	0.5358461	0.69163	0.5459986	0.73756	0.5358461	0.69164	0.5459986	0.73757	-9.974	0.73756	D	.	.	0.154	0.34071	B	.	.	3.678079	0.52339	23.2	0.99840278532893179	0.92057	0.64603	0.32461	D	AEFBI	0.121569	0.23629	N	0.401473922566382	0.61503	4.352364	0.34189914791065	0.58020	3.970401	0.00114548582671437	0.08272	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.64	4.67	0.58089	2.100000	0.41402	.	.	0.599000	0.40250	0.526000	0.27158	1.000000	0.68203	0.205000	0.22041	0.0:0.8221:0.1779:0.0	11.708	0.50874	796	0.45353	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1532.44	86	chr1	152985421	.	C	T	1532.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.443;DP=276;ExcessHet=0;FS=1.734;MLEAC=1;MLEAF=0.071;MQ=59.79;MQRankSum=-1.024;QD=17.82;ReadPosRankSum=-0.255;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1246:.	6	0	1	0
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E,INTS3:NM_001324475:exon13:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	414.4	91	chr1	153760378	.	C	G	414.4	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.605;DP=558;ExcessHet=1.383;FS=257.17;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.34;ReadPosRankSum=0.128;SOR=8.608	GT:AD:DP:GQ:PL	0/1:101,62:163:99:352,0,1251	3	0	3	1
chr1	153777862	153777862	C	T	exonic	SLC27A3	.	stopgain	SLC27A3:NM_001317929:exon4:c.C1138T:p.R380X,SLC27A3:NM_024330:exon4:c.C1138T:p.R380X	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0003	0	0.0009	0	0	0.0003	0	0.0002	0.0002652	41	154602	rs201878467	0.0002	0.0002	0.0001	0.0002	0.0047	0.0001	0.0001	0.0033	0.0028	0.0001	0.0011	0	0	0	0.0047	9.353e-05	0.0003	0.0002	0.0001	0.0001	0.0001	0.0001	0.0003	8.656e-05	7.25e-05	0.0001	7.893e-05	2.405e-05	0	0.0003	0	0.0002	0	0	0.0002	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.000006	0.62929	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.392	0.43514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25466	0.79036	D	0.536677	0.95345	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	9.119912	0.98492	39	0.99731512155226676	0.82833	0.91720	0.54120	D	ALL	0.223770	0.34808	N	0.57537452116366	0.71641	5.681696	0.395492462740748	0.61285	4.326667	0.999999999753528	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.77	4.77	0.60425	3.191000	0.50682	4.820000	0.45111	0.549000	0.26987	0.994000	0.38300	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	15.311	0.73735	75	0.96833	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.004076	0.002924	0.000000	0.000000	0.003049	0.000000	0.07143	710.53	35	chr1	153777862	.	C	T	710.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.755;DP=259;ExcessHet=0;FS=1.891;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=-0.817;SOR=0.948	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1458	6	0	1	0
chr1	154205607	154205607	G	A	exonic	C1orf189	.	nonsynonymous SNV	C1orf189:NM_001010979:exon2:c.C65T:p.T22M	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.000918581790089	0.0002	.	0.0002	9.61e-05	0	0	0	0.0002	0.0011	0.0003	0.0001358	21	154602	rs144170950	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0003	0.0002	8.963e-05	0.0001	0	0.0001	0	0.0009	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	0	0	0.0002	0	0.0002	0	0	0.0003	0.0005	0.0002	0.485	0.08115	T	0.487	0.11656	T	0.0	0.02946	B	0.001	0.04355	B	0.010309	0.29978	N	0.407810	0.997257	0.22732	N	-1.295	0.00719	N	.	.	.	-0.51	0.15986	N	0.274	0.31027	-0.9531	0.40433	T	0.012	0.04795	T	9	0.038104624	0.02207	T	9.19E-4	0.00889	T	0.027	0.05988	.	.	0.0666544352282	0.05500	0.054117604028391136	0.05353	0.150691142447	0.16997	.	.	.	0.030752	0.21724	T	-0.491154	0.00640	T	-0.642961	0.09455	T	0.00678274225774226	0.00076	T	0.39556	0.09932	T	0.018467091	0.00368	0.04256301	0.05096	0.018467091	0.00368	0.04256301	0.05096	-4.303	0.28219	T	.	.	0.052	0.00220	B	.	.	0.529706	0.08986	5.766	0.58337301567450206	0.05970	0.05047	0.10834	N	AEFBCI	0.031132	0.03265	N	-0.911661378043011	0.10568	0.5056464	-0.770439398036013	0.15221	0.7994258	0.0978337971246768	0.16290	0.578255	0.32838	2	0.379588	0.06130	0	0.536957	0.11973	0	0.741806	0.99463	0	.	.	5.25	1.66	0.23081	0.729000	0.25696	2.113000	0.30672	-0.592000	0.04645	0.703000	0.28654	1.000000	0.68203	0.008000	0.08271	0.6519:0.0:0.3481:0.0	5.853	0.17954	73	0.96914	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.050000	0.000000	0.003049	0.000000	0.07143	1109.46	33	chr1	154205607	.	G	A	1109.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.042;DP=255;ExcessHet=0;FS=1.905;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=0.72;SOR=0.872	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1187	6	0	1	0
chr1	154273885	154273885	G	C	exonic	HAX1	.	nonsynonymous SNV	HAX1:NM_001018837:exon3:c.G284C:p.G95A,HAX1:NM_006118:exon3:c.G428C:p.G143A	Neutropenia, severe congenital 3, autosomal recessive, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	556933	Inborn_genetic_diseases|not_provided|Kostmann_syndrome	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0012548,MedGen:C5235141,OMIM:610738,Orphanet:99749	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.103	0.0325241095012	.	.	0.0002	0	0.0004	0	0	0.0002	0.0022	0.0003	0.0002005	31	154602	rs755031266	0.0001	0.0001	9.256e-05	0.0001	0.0054	0.0001	9.833e-05	0.0039	0.0034	0.0001	0.0007	0	0	0	0.0054	6.205e-05	0.0002	0.0003	0.0001	0.0001	8.997e-05	0.0002	0.0002	9.742e-05	8.256e-05	0.0001	8.879e-05	2.407e-05	0	0.0002	0	0	0	0.0102	0.0002	0.0005	0.0002	0.045	0.45393	D	0.037	0.53426	D	0.204	0.47667	B	0.107	0.45477	B	0.003638	0.34687	N	0.289185	0.990635	0.24145	N	2.155	0.60227	M	-0.1	0.64264	T	-0.39	0.25770	N	0.265	0.31590	-0.9720	0.36776	T	0.092	0.34983	T	10	0.11071029	0.20702	T	0.032524	0.54329	D	0.103	0.29403	.	.	0.867300734482	0.86601	0.4214572079012798	0.42061	0.658459894302	0.58751	0.477099329233	0.35657	T	0.364216	0.72984	T	-0.327449	0.06306	T	-0.340541	0.40284	T	0.0440886818830096	0.04437	T	0.864413	0.56163	D	0.12044953	0.28342	0.11409873	0.27539	0.13181397	0.30713	0.089028284	0.20795	-4.605	0.32234	T	0.18247092490097	0.23577	0.098	0.19276	B	.;.;.;.	.;.;.;.	2.340020	0.29987	18.30	0.99858889322311228	0.93729	0.84284	0.43366	D	AEFDBI	0.586554	0.58455	D	0.100307710544865	0.46475	2.887445	0.142323270608374	0.46737	2.914839	0.999996405743336	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.662677	0.59975	0	0.735409	0.98432	0	.	.	5.85	3.99	0.45527	0.688000	0.25103	7.503000	0.59513	0.596000	0.33519	0.178000	0.24038	1.000000	0.68203	0.996000	0.76049	0.1628:0.0:0.8372:0.0	9.531	0.38361	338	0.86082	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004532	0.000000	0.006793	0.008772	0.000000	0.000000	0.003049	0.000000	0.07143	669.46	35	chr1	154273885	.	G	C	669.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.303;DP=232;ExcessHet=0;FS=2.175;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=1.81;SOR=0.906	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1242	6	0	1	0
chr1	154337411	154337411	G	A	exonic	ATP8B2	.	nonsynonymous SNV	ATP8B2:NM_001367934:exon11:c.G958A:p.E320K,ATP8B2:NM_001005855:exon12:c.G901A:p.E301K,ATP8B2:NM_001370596:exon12:c.G901A:p.E301K,ATP8B2:NM_001370597:exon12:c.G901A:p.E301K,ATP8B2:NM_001372009:exon12:c.G901A:p.E301K	.	410	1078	33	1	0	35	0.0159744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.355	0.0169390783709	0.0031	0.00179712	0.0037	0.0007	0.0026	0.0002	0.0014	0.0049	0.0099	0.0042	0.0034152	528	154602	rs41304564	0.0027	0.0027	0.0026	0.0028	0.0113	0.0026	0.0026	0.0091	0.0083	0.0002	0.0019	0.0104	0.0002	0.0016	0.0113	0.0025	0.0035	0.0047	0.0024	0.0024	0.0025	0.0023	0.0046	0.0022	0.0021	0.0031	0.0030	0.0003	0.0033	0.0016	0.0112	0.0002	0.0020	0.0102	0.0035	0.0033	0.0046	0.64	0.05002	T	0.877	0.03250	T	0.04	0.21357	B	0.013	0.16460	B	0.000000	0.84330	D	0.000000	0.999707	0.48408	D	.	.	.	-2.37	0.88220	D	-0.58	0.19720	N	0.306	0.34552	-0.7169	0.59615	T	0.223	0.58742	T	10	0.0077991486	0.00177	T	0.016939	0.38428	T	0.355	0.67600	.	.	0.781140881159	0.77911	0.635693494009724	0.63503	0.628108854042	0.56883	0.59986948967	0.52886	T	.	.	.	-0.141578	0.29639	T	0.0237126	0.71870	D	0.0124413987690525	0.00204	T	0.853215	0.53849	D	.	.	.	.	.	.	.	.	-7.122	0.59161	T	.	.	0.113	0.22428	B	.;.	.;.	3.212134	0.43726	21.8	0.98843403016275333	0.47169	0.94733	0.62143	D	AEFBI	0.486704	0.52576	N	-0.302990982930507	0.29035	1.606549	-0.0620030983154683	0.36975	2.158833	0.999999712195385	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.17	5.17	0.70848	1.795000	0.38418	4.976000	0.46431	0.596000	0.33519	0.979000	0.35152	1.000000	0.68203	0.749000	0.35751	0.0855:0.0:0.9145:0.0	10.905	0.46283	359	0.84979	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.006793	0.002924	0.000000	0.008621	0.009146	0.007576	0.07143	1565.49	33	chr1	154337411	.	G	A	1565.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.83;DP=305;ExcessHet=0;FS=1.432;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=0.772;SOR=0.543	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1321	6	0	1	0
chr1	154558298	154558298	C	A	exonic	UBE2Q1	.	nonsynonymous SNV	UBE2Q1:NM_017582:exon1:c.G256T:p.A86S	.	325	1180	16	1	0	18	0.00756939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0022	0.00119808	0.0039	0.0004	0.0036	0	0.0020	0.0053	0.0140	0.0027	0.0022898	354	154602	rs202059318	0.0022	0.0022	0.0021	0.0023	0.0088	0.0021	0.0021	0.0067	0.0059	0.0003	0.0015	0.0057	0	0.0017	0.0088	0.0022	0.0026	0.0032	0.0019	0.0019	0.0020	0.0017	0.0037	0.0017	0.0016	0.0027	0.0025	0.0002	0.0033	0.0008	0.0046	0	0.0016	0.0034	0.0030	0.0024	0.0037	0.253	0.16958	T	0.363	0.16815	T	0.001	0.07471	B	0.001	0.04355	B	0.065141	0.21903	N	0.234110	0.955766	0.26322	N	0	0.06538	N	1.08	0.39401	T	0.19	0.04947	N	0.105	0.08925	-0.9951	0.31272	T	0.013	0.05321	T	10	0.005991876	0.00134	T	.	.	.	0.016	0.02506	.	.	0.182106788282	0.17826	0.21996386590725103	0.21912	1.05001893674	0.76114	0.756650805473	0.75431	T	0.018887	0.15149	T	-0.590259	0.00167	T	-0.622433	0.10995	T	0.0133708668250187	0.00241	T	0.444256	0.12390	T	0.08793063	0.20495	0.051356357	0.08247	0.08793063	0.20495	0.051356357	0.08246	-4.8	0.34591	T	.	.	0.079	0.07412	B	.	.	2.896957	0.38380	20.7	0.93188905231359431	0.22853	0.78922	0.39015	D	AEFDGBHCI	0.189454	0.31670	N	-0.670891570278855	0.16854	0.8623621	-0.536259242295464	0.21172	1.144064	0.999999756380639	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	4.4	-1.21	0.09033	-0.095000	0.11043	5.397000	0.48500	0.549000	0.26987	0.978000	0.35038	1.000000	0.68203	0.994000	0.71098	0.1578:0.4014:0.1543:0.2865	1.030	0.01439	459	0.78817	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004578	0.000000	0.002732	0.002941	0.000000	0.008621	0.009146	0.000000	0.08333	906.27	29	chr1	154558298	.	C	A	906.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.104;DP=221;ExcessHet=0;FS=0.968;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=1.05;SOR=0.85	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1025	5	0	1	1
chr1	155041461	155041461	C	T	exonic	DCST1	.	nonsynonymous SNV	DCST1:NM_001143687:exon6:c.C521T:p.A174V,DCST1:NM_152494:exon7:c.C596T:p.A199V	.	.	.	.	.	.	.	.	.	.	.	706710	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.020	.	0.0107	0.00838658	0.0027	0.0296	0.0010	0	0	0.0002	0.0033	0	0.0024773	383	154602	rs115086285	0.0009	0.0009	0.0010	0.0008	0.0307	0.0008	0.0008	0.0291	0.0285	0.0307	0.0011	0	0	0	0.0016	0.0001	0.0014	4.637e-05	0.0088	0.0087	0.0091	0.0084	0.0307	0.0084	0.0082	0.0293	0.0287	0.0307	0	0.0021	0	0	0	0	0.0002	0.0047	0	0.131	0.26629	T	0.283	0.21478	T	0.002	0.09854	B	0.003	0.08700	B	0.019015	0.01501	N	2.398010	0.999495	0.21100	N	2.215	0.62545	M	0.24	0.59583	T	-1.35	0.33598	N	0.324	0.41952	-1.0871	0.06030	T	0.032	0.13811	T	10	0.003309667	0.00057	T	.	.	.	0.020	0.03691	.	.	0.350524144436	0.34660	0.24516359203993446	0.24430	0.116420580842	0.13130	0.274921417236	0.06794	T	0.022563	0.17371	T	-0.58768	0.00173	T	-0.595308	0.13209	T	0.0125295325662199	0.00208	T	0.776822	0.40920	T	0.038873777	0.05263	0.054420587	0.09358	0.038873777	0.05263	0.054420587	0.09357	-4.725	0.34475	T	.	.	0.085	0.13032	B	.;.;.	.;.;.	1.277292	0.16768	12.75	0.97618111548930875	0.34949	0.10537	0.16016	N	AEFDBI	0.096378	0.19458	N	-1.28650158768749	0.03837	0.1721278	-1.26790921542626	0.04871	0.2308212	0.992246431279772	0.32771	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.27	-1.64	0.07874	0.298000	0.18874	-0.229000	0.10694	-0.990000	0.01853	0.431000	0.26416	0.000000	0.08366	0.705000	0.34296	0.384:0.4077:0.1257:0.0826	3.913	0.08710	234	0.90879	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	603.45	33	chr1	155041461	.	C	T	603.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.057;DP=224;ExcessHet=0;FS=1.187;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-1.542;SOR=1.011	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1048	6	0	1	0
chr1	155250323	155250323	A	G	exonic	FAM189B	.	nonsynonymous SNV	FAM189B:NM_198264:exon6:c.T1175C:p.L392P,FAM189B:NM_001267608:exon8:c.T1409C:p.L470P,FAM189B:NM_006589:exon9:c.T1463C:p.L488P	.	423	1059	38	2	0	42	0.0194444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	.	0.0018	0.00658946	0.0203	0.0005	0.0063	0	0	0.0110	0	0.0350	0.0029819	461	154602	rs142630415	0.0050	0.0048	0.0040	0.0060	0.0323	0.0049	0.0048	0.0313	0.0309	0.0007	0.0017	0.0243	2.824e-05	0.0010	0.0130	0.0030	0.0057	0.0323	0.0037	0.0037	0.0033	0.0041	0.0326	0.0034	0.0033	0.0285	0.0269	0.0007	0.0275	0.0020	0.0261	0	0.0009	0	0.0031	0.0043	0.0326	0.027	0.46513	D	0.014	0.63918	D	0.997	0.70673	D	0.991	0.79672	D	0.000286	0.46274	D	0.000000	0.999995	0.58761	D	0.975	0.24501	L	3.82	0.03728	T	-0.11	0.15178	N	0.488	0.57433	-0.7789	0.56364	T	0.009	0.03448	T	10	0.0054880977	0.00121	T	.	.	.	0.146	0.38789	.	.	0.242244723065	0.23846	0.7644931943960813	0.76397	3.96447962958	0.99874	0.803799211979	0.82543	D	0.015217	0.12804	T	-0.380399	0.03098	T	-0.294818	0.45268	T	0.0244990517566369	0.01208	T	.	.	.	0.17293428	0.38012	0.25629476	0.51326	0.17293428	0.38011	0.25629476	0.51325	-3.986	0.24802	T	.	.	0.217	0.44643	B	.;.;.	.;.;.	4.672397	0.74688	26.2	0.99891294729488611	0.96513	0.76327	0.37426	D	AEFDBCI	0.499244	0.53301	N	0.323016245965236	0.57332	3.900123	0.341837613117233	0.58017	3.970009	0.999999994130709	0.74766	0.706548	0.73137	0	0.52208	0.09955	0	0.581341	0.30212	0	0.714379	0.83352	0	.	.	4.21	4.21	0.48984	2.412000	0.44263	8.974000	0.78479	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	11.607	0.50292	41	0.97903	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013333	0.000000	0.002924	0.011811	0.000000	0.000000	0.009174	0.034483	0.08333	160.27	25	chr1	155250323	.	A	G	160.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.268;DP=165;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.72;ReadPosRankSum=0.127;SOR=0.551	GT:AD:DP:GQ:PL	0/0:32,0:32:90:0,90,1350	5	0	1	1
chr1	155288248	155288248	C	T	exonic	HCN3	.	nonsynonymous SNV	HCN3:NM_020897:exon8:c.C2110T:p.R704W	.	402	1119	1	0	0	1	0.000446628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.0422139682867	.	.	6.023e-05	0	0	0	0	7.564e-05	0	8.646e-05	2.59e-05	4	154602	rs753181610	5.495e-05	5.541e-05	5.807e-05	5.179e-05	0.0003	4.485e-05	4.151e-05	6.339e-05	4.336e-05	0	0.0001	0	5.167e-05	0	0.0003	5.074e-05	6.706e-05	0.0001	5.918e-05	5.911e-05	6.427e-05	5.385e-05	0.0003	3.079e-05	2.211e-05	8.88e-05	5.388e-05	4.829e-05	0	0.0003	0	0	0	0	4.412e-05	0	0	0.034	0.44029	D	0.017	0.60337	D	0.035	0.20614	B	0.004	0.10090	B	0.000349	0.45440	D	0.000000	0.999825	0.20203	N	1.65	0.42232	L	-4.74	0.98081	D	-1.83	0.42957	N	0.142	0.14196	-0.0456	0.81299	T	0.615	0.86401	D	10	0.09215662	0.16204	T	0.042214	0.60346	D	0.293	0.61272	.	.	0.757921988993	0.75572	0.5067270263960159	0.50594	0.851800166923	0.68574	0.718704998493	0.69858	T	0.069731	0.33783	T	-0.0927845	0.37617	T	-0.165549	0.57849	T	0.06868476364411	0.08465	T	.	.	.	0.0698521	0.15337	0.071309045	0.15254	0.0698521	0.15337	0.071309045	0.15254	-4.785	0.34416	T	.	.	0.154	0.34004	B	.	.	2.557227	0.33111	19.24	0.9983555610134609	0.91628	0.29961	0.23959	N	AEFDGBCI	0.137176	0.25807	N	-0.876128527510028	0.11413	0.5505942	-0.868624009131649	0.12840	0.6628578	0.994463035258766	0.33649	0.646311	0.45356	0	0.670034	0.63936	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	4.91	-0.938	0.09882	-1.899000	0.01691	-0.062000	0.12412	-0.182000	0.10109	0.000000	0.06391	0.004000	0.18990	0.988000	0.63387	0.5253:0.3978:0.0:0.0769	8.176	0.30444	42	0.97857	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	458.27	33	chr1	155288248	.	C	T	458.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.968;DP=223;ExcessHet=0;FS=0.981;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.27;ReadPosRankSum=0.281;SOR=0.563	GT:AD:DP:GQ:PL	0/1:41,22:63:99:468,0,953	5	0	1	1
chr1	155776454	155776454	G	C	exonic	GON4L	.	nonsynonymous SNV	GON4L:NM_001282856:exon16:c.C2119G:p.L707V,GON4L:NM_001282858:exon16:c.C2119G:p.L707V,GON4L:NM_001282860:exon16:c.C2119G:p.L707V,GON4L:NM_001282861:exon16:c.C2119G:p.L707V,GON4L:NM_032292:exon16:c.C2119G:p.L707V	.	0	1510	10	2	0	14	0.00461437	.	.	.	2806045	GON4L-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.244	0.0100874149664	0.0028	0.00119808	0.0040	9.612e-05	0.0027	0.0001	0.0039	0.0058	0.0055	0.0021	0.0037839	585	154602	rs146504521	0.0034	0.0035	0.0033	0.0034	0.0035	0.0033	0.0033	0.0032	0.0032	0.0006	0.0034	0.0158	2.519e-05	0.0040	0.0035	0.0033	0.0045	0.0020	0.0028	0.0028	0.0027	0.0028	0.0037	0.0026	0.0025	0.0033	0.0032	0.0004	0	0.0036	0.0107	0	0.0035	0.0102	0.0037	0.0052	0.0017	0.115	0.29688	T	0.002	0.79402	D	0.998	0.77913	D	0.996	0.88582	D	0.000031	0.55875	D	0.074299	0.999017	0.45878	D	2.32	0.66415	M	2.15	0.21666	T	-1.82	0.42763	N	0.606	0.70351	-1.1423	0.01275	T	0.070	0.28740	T	10	0.008015126	0.00182	T	0.010087	0.26213	T	0.244	0.55061	.	.	0.443848435703	0.44006	0.7792985712579287	0.77880	1.72089044569	0.90581	0.521779358387	0.41876	T	0.155469	0.49722	T	-0.383467	0.02962	T	-0.323197	0.42224	T	0.00843386213030176	0.00102	T	0.943306	0.79528	D	0.22679141	0.45367	0.1800077	0.40773	0.22679141	0.45367	0.1800077	0.40772	-10.733	0.78173	D	.	.	0.230	0.50054	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.615462	0.73231	26.0	0.99792468392683908	0.87839	0.97131	0.72871	D	AEFDBHCI	0.520786	0.54550	D	0.581408086996683	0.72016	5.739631	0.581827532717415	0.73636	6.003262	0.999999839549231	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.82	4.82	0.61641	6.534000	0.73741	9.722000	0.81369	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	17.772	0.88404	67	0.97183	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003528	0.005051	0.004076	0.005848	0.000000	0.000000	0.003049	0.000000	0.2143	1584.97	43	chr1	155776454	.	G	C	1584.97	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.512;DP=275;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=0.649;SOR=0.695	GT:AD:DP:GQ:PL	0/1:38,45:83:99:990,0,843	4	0	3	0
chr1	156266023	156266023	G	A	exonic	SMG5	.	nonsynonymous SNV	SMG5:NM_001323615:exon11:c.C1475T:p.T492I,SMG5:NM_001323614:exon12:c.C1613T:p.T538I,SMG5:NM_015327:exon12:c.C1613T:p.T538I,SMG5:NM_001323616:exon13:c.C1415T:p.T472I,SMG5:NM_001323617:exon13:c.C1415T:p.T472I	.	426	1082	13	1	0	15	0.00688389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.00448310815964	.	0.000798722	0.0007	9.621e-05	0.0002	0.0001	0	0.0001	0.0011	0.0041	0.0005821	90	154602	rs199926708	0.0004	0.0004	0.0002	0.0006	0.0046	0.0004	0.0004	0.0042	0.0041	0	2.236e-05	0	0	0	0.0021	0.0001	0.0004	0.0046	0.0003	0.0003	0.0002	0.0003	0.0052	0.0002	0.0002	0.0036	0.0031	0	0	0	0	0.0004	0	0	0.0002	0	0.0052	0.11	0.29158	T	0.152	0.32249	T	0.0	0.02946	B	0.0	0.01387	B	0.024058	0.26331	N	0.412877	1	0.81001	D	0	0.06538	N	1.51	0.30937	T	-0.55	0.16799	N	0.132	0.12770	-1.0878	0.05908	T	0.024	0.10148	T	10	0.002447158	0.00037	T	0.004483	0.11000	T	0.100	0.28662	.	.	0.24933006939	0.24537	0.13302939099555572	0.13226	0.30959749131	0.33265	0.335560500622	0.15773	T	0.019821	0.15719	T	-0.604954	0.00136	T	-0.641347	0.09571	T	0.025584432604545	0.01350	T	0.642936	0.25461	T	0.06652615	0.14321	0.06867833	0.14374	0.06652615	0.14321	0.06867833	0.14374	-5.204	0.38982	T	.	.	0.080	0.07602	B	.	.	1.122900	0.15086	11.58	0.95060026002545306	0.26087	0.58794	0.30738	D	AEFGBCI	0.345821	0.44084	N	-0.501987002992586	0.22015	1.172604	-0.365006010001851	0.26050	1.436355	0.999999922507454	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.99	4.99	0.65942	2.628000	0.46143	2.551000	0.33264	0.676000	0.76740	0.112000	0.23030	0.090000	0.22521	0.951000	0.49849	0.0:0.0:1.0:0.0	17.010	0.86277	290	0.88477	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.2857	8841.84	33	chr1	156266023	.	G	A	8841.84	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.592;DP=575;ExcessHet=0.0921;FS=1.195;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=19.01;ReadPosRankSum=-0.785;SOR=0.583	GT:AD:DP:GQ:PL	0/1:84,93:177:99:2285,0,2191	4	1	2	0
chr1	156293371	156293371	G	A	exonic	GLMP	.	nonsynonymous SNV	GLMP:NM_001256605:exon4:c.C746T:p.T249M,GLMP:NM_001256604:exon5:c.C857T:p.T286M,GLMP:NM_001256609:exon5:c.C761T:p.T254M,GLMP:NM_144580:exon5:c.C1004T:p.T335M	.	.	.	.	.	.	.	.	.	.	.	3251844	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.221	0.0217710338677	.	.	3.297e-05	0	0	0.0002	0.0002	1.499e-05	0	0	2.59e-05	4	154602	rs765364245	4.104e-06	4.104e-06	2.722e-06	5.5e-06	7.557e-05	1.48e-06	9.7e-07	2.003e-05	1.055e-05	0	2.236e-05	0	7.557e-05	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.003	0.92824	D	0.976	0.58310	D	0.375	0.43710	B	0.000001	0.84330	D	0.055782	0.92785	0.36877	D	.	.	.	1.77	0.25841	T	-2.67	0.57110	D	0.695	0.71765	-1.0957	0.04653	T	0.044	0.19070	T	10	0.5827205	0.65939	D	0.021771	0.44583	T	0.221	0.51721	0.508	0.60386	0.0666544352282	0.05500	0.818606088730686	0.81817	0.642352258747	0.57803	.	.	.	0.177312	0.52757	T	-0.0699709	0.41331	T	-0.112583	0.62404	T	0.682302176952362	0.39893	D	0.880112	0.59716	D	0.21273269	0.43633	0.23093547	0.48210	0.21273269	0.43633	0.23093547	0.48209	-9.759	0.72456	D	.	.	0.228	0.46037	B	.;.;.	.;.;.	5.046844	0.84037	28.2	0.99890218077172988	0.96436	0.71878	0.35205	D	AEFDBCI	0.758234	0.69694	D	0.313976230626149	0.56866	3.852045	0.306387079035156	0.55916	3.754333	0.999949192803912	0.47345	0.706548	0.73137	0	0.643519	0.57511	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.29	4.35	0.51454	3.652000	0.54179	8.612000	0.77773	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.705000	0.34296	0.0933:0.0:0.9067:0.0	10.074	0.41524	301	0.87912	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1879.53	34	chr1	156293371	.	G	A	1879.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.992;DP=310;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=0;SOR=0.708	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1067	6	0	1	0
chr1	156530193	156530193	C	T	exonic	IQGAP3	.	nonsynonymous SNV	IQGAP3:NM_178229:exon34:c.G4316A:p.R1439H	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.0396552663372	.	0.000199681	5.493e-05	0	0	0	0	3.282e-05	0	0.0003	4.53e-05	7	154602	rs201439773	6.847e-05	6.977e-05	4.768e-05	8.948e-05	0.0005	5.718e-05	5.331e-05	0.0004	0.0003	0	0	0	2.521e-05	0	0.0002	4.228e-05	0.0001	0.0005	5.909e-05	5.905e-05	3.855e-05	8.055e-05	0.0004	3.075e-05	2.208e-05	7.29e-05	3.029e-05	2.405e-05	0	0	0	0.0004	0	0	5.88e-05	0	0.0004	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.986	0.76916	D	0.000506	0.43753	D	0.180937	0.929592	0.36931	D	2.65	0.77586	M	0.89	0.45636	T	-2.94	0.61435	D	0.357	0.39861	-0.7712	0.56792	T	0.172	0.51325	T	10	0.2638523	0.43867	T	0.039655	0.58934	D	0.291	0.61040	.	.	0.735594876934	0.73323	0.3049500561761809	0.30408	0.690861133062	0.60560	0.496938049793	0.38401	T	0.23355	0.60038	T	-0.343355	0.05159	T	-0.407039	0.32567	T	0.610886752605438	0.36836	D	0.914708	0.69569	D	0.20485762	0.42609	0.1754461	0.40011	0.20485762	0.42609	0.1754461	0.40010	-5.467	0.41559	T	.	.	0.098	0.16099	B	.	.	3.871675	0.56212	23.7	0.99935227491344891	0.99579	0.74768	0.36584	D	AEFDGBI	0.127245	0.24453	N	0.386034027732741	0.60663	4.257906	0.246918450097902	0.52473	3.422021	0.999947808557936	0.47345	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.5	4.5	0.54382	2.977000	0.48988	3.215000	0.36822	0.581000	0.30040	0.997000	0.40164	0.997000	0.33255	0.789000	0.37270	0.0:0.9049:0.0:0.0951	10.471	0.43822	567	0.70732	RasGAP protein, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.2143	11280.7	76	chr1	156530193	.	C	T	11280.7	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.856;DP=630;ExcessHet=0;FS=0.456;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=31.51;ReadPosRankSum=-0.891;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,75:159:99:0|1:156530177_T_C:2757,0,3117:156530177	5	1	1	0
chr1	156581456	156581456	G	A	exonic	TTC24	.	nonsynonymous SNV	TTC24:NM_001105669:exon2:c.G92A:p.R31Q	.	431	1063	27	1	0	29	0.0134571	.	.	.	4020733	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.066	.	.	0.00519169	0.0086	0.0028	0.01	0	0.0130	0.0157	0.0044	0.0024	0.0026196	405	154602	rs192869620	0.0078	0.0074	0.0078	0.0077	0.0348	0.0076	0.0076	0.0309	0.0293	0.0020	0.0085	0.0317	0	0.0091	0.0348	0.0077	0.0100	0.0019	0.0076	0.0076	0.0076	0.0075	0.0144	0.0072	0.0071	0.0129	0.0123	0.0019	0	0.0144	0.0349	0	0.0088	0.0408	0.0087	0.0123	0.0019	0.798	0.03134	T	1.0	0.01155	T	.	.	.	.	.	.	0.694981	0.10143	N	0.820698	1	0.08975	N	-1.295	0.00719	N	-1.06	0.76819	T	0.51	0.02898	N	0.031	0.00770	-1.0441	0.16089	T	0.048	0.20355	T	8	0.003119409	0.00052	T	.	.	.	0.066	0.19193	.	.	0.0846915920261	0.08053	0.046677210505106946	0.04610	0.108947013883	0.12287	0.207851052284	0.00723	T	2.54E-4	0.00056	T	-0.62291	0.00106	T	-0.657156	0.08460	T	0.00621195902304562	0.00069	T	0.359064	0.08235	T	0.026803896	0.01785	0.025499392	0.00596	0.026803896	0.01784	0.025499392	0.00596	-4.317	0.28414	T	.	.	0.059	0.00820	B	.;.	.;.	-0.712542	0.01291	0.069	0.33188039571582323	0.01964	0.00266	0.01451	N	AEFGBI	0.032074	0.03554	N	-1.19098200561426	0.05136	0.2334128	-1.26074243739387	0.04974	0.2359242	0.999930896805824	0.46732	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.23	-1.72	0.07671	-0.333000	0.07938	0.016000	0.13516	-0.659000	0.04360	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3363:0.1592:0.3497:0.1549	1.432	0.02194	693	0.58582	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.030374	0.026596	0.040698	0.048387	0.083333	0.062500	0.026882	0.032609	0.08333	638.27	27	chr1	156581456	.	G	A	638.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.12;DP=195;ExcessHet=0;FS=11.577;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-1.368;SOR=2.426	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1124	5	0	1	1
chr1	156583821	156583821	C	T	exonic	TTC24	.	nonsynonymous SNV	TTC24:NM_001105669:exon6:c.C1177T:p.R393W	.	.	.	.	.	.	.	.	.	.	.	2251581	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.252	0.0186372279276	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1319836093	4.886e-06	8.893e-06	5.533e-06	4.227e-06	3.68e-05	2.03e-06	1.31e-06	9.77e-06	4.71e-06	0	0	0	0	0	0	3.64e-06	0	3.68e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000800	0.41772	D	0.000000	0.525561	0.31933	D	2.14	0.59869	M	1.57	0.29342	T	-4.82	0.80851	D	0.794	0.79022	-1.0781	0.07721	T	0.080	0.31675	T	10	0.86861646	0.86117	D	0.018637	0.40769	T	0.252	0.56159	0.676	0.81398	0.346544149963	0.34258	0.44647383435973903	0.44565	0.507220280877	0.48905	0.504885196686	0.39509	T	0.164488	0.50996	T	0.0466089	0.57905	T	-0.170826	0.57368	T	0.997280836105347	0.91194	D	0.885311	0.61048	D	0.32510102	0.55066	0.3270407	0.58605	0.32510102	0.55066	0.3270407	0.58604	-8.611	0.65162	D	.	.	0.310	0.53755	B	.;.	.;.	5.135608	0.85965	28.8	0.99062626838265466	0.51528	0.77826	0.38312	D	AEFDGBHCI	0.339872	0.43688	N	0.507670990090365	0.67541	5.095566	0.503361320275552	0.68216	5.189547	0.999999955066643	0.74766	0.62174	0.39705	0	0.858003	0.99906	0	0.687007	0.62461	0	0.584449	0.35598	0	.	.	5.15	4.17	0.48303	1.848000	0.38949	1.573000	0.27428	0.599000	0.40250	0.980000	0.35271	0.870000	0.27582	0.998000	0.85391	0.2162:0.7838:0.0:0.0	9.966	0.40892	697	0.58201	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1160.49	35	chr1	156583821	.	C	T	1160.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.736;DP=282;ExcessHet=0;FS=1.735;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=2.22;SOR=0.526	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	6	0	1	0
chr1	156743839	156743839	C	T	exonic	HDGF	.	nonsynonymous SNV	HDGF:NM_001126050:exon5:c.G577A:p.G193R,HDGF:NM_001126051:exon5:c.G508A:p.G170R,HDGF:NM_001319186:exon5:c.G598A:p.G200R,HDGF:NM_001319187:exon5:c.G433A:p.G145R,HDGF:NM_004494:exon5:c.G529A:p.G177R,HDGF:NM_001319188:exon6:c.G433A:p.G145R	.	399	1109	13	1	0	15	0.00671742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0004	0.00938498	0.0060	0.0017	0.0005	0.0012	0	3.014e-05	0.0034	0.0423	0.0051616	798	154602	rs73002716	0.0027	0.0027	0.0014	0.0039	0.0418	0.0026	0.0026	0.0407	0.0402	0.0015	0.0001	0	0.0011	0	0.0028	2.069e-05	0.0025	0.0418	0.0018	0.0018	0.0010	0.0027	0.0433	0.0016	0.0016	0.0385	0.0367	0.0014	0	0.0001	0	0.0006	0	0	2.94e-05	0.0005	0.0433	0.484	0.20154	T	0.152	0.40110	T	0.0	0.02946	B	0.001	0.04355	B	0.183759	0.17032	U	0.488989	0.994512	0.24711	N	0.755	0.19153	N	1.92	0.32722	T	-0.15	0.15578	N	0.143	0.15609	-1.0353	0.18762	T	0.018	0.07612	T	10	0.0023260415	0.00034	T	.	.	.	0.024	0.04979	0.186	0.09517	0.376570364461	0.37271	0.15704871913818222	0.15625	1.07742525153	0.77023	0.39216697216	0.23974	T	0.080118	0.36288	T	-0.599948	0.00146	T	-0.604573	0.12429	T	0.0205574199020793	0.00755	T	0.727127	0.34152	T	0.020746972	0.00644	0.03842232	0.03707	0.020746972	0.00644	0.03842232	0.03706	-4.71	0.33525	T	.	.	0.112	0.29670	B	.;.;.;.	.;.;.;.	3.304976	0.45390	22.1	0.85570904600086095	0.15976	0.87681	0.47302	D	AEFDBCI	0.333795	0.43277	N	-0.355671148130692	0.27065	1.481947	-0.231264511611906	0.30423	1.712775	0.999998540497223	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.48	3.56	0.39892	2.510000	0.45129	4.755000	0.44682	0.596000	0.33519	0.902000	0.31475	1.000000	0.68203	0.991000	0.66497	0.0:0.8919:0.0:0.1081	8.405	0.31773	511	0.75131	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.018939	0.08333	577.27	34	chr1	156743839	.	C	T	577.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.56;DP=202;ExcessHet=0;FS=2.709;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-0.654;SOR=1.182	GT:AD:DP:GQ:PL	0/1:21,21:42:99:587,0,525	5	0	1	1
chr1	156807225	156807225	G	T	exonic	SH2D2A	.	nonsynonymous SNV	SH2D2A:NM_001161443:exon7:c.C1039A:p.L347I,SH2D2A:NM_001161441:exon8:c.C1153A:p.L385I,SH2D2A:NM_001161442:exon8:c.C1069A:p.L357I,SH2D2A:NM_001161444:exon8:c.C1123A:p.L375I,SH2D2A:NM_003975:exon8:c.C1123A:p.L375I	.	425	1087	9	1	0	11	0.00503432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00530180888616	.	0.000199681	0.0003	0	0.0002	0	0	6.096e-05	0.0034	0.0019	0.0002717	42	154602	rs200276932	0.0003	0.0002	0.0002	0.0004	0.0024	0.0002	0.0002	0.0022	0.0021	0	0.0002	5.584e-05	5.115e-05	3.07e-05	0.0018	7.405e-05	0.0004	0.0024	0.0001	0.0001	0.0001	0.0001	0.0025	7.026e-05	5.658e-05	0.0013	0.0010	0	0	0	0.0003	0	0	0	7.64e-05	0	0.0025	0.013	0.53900	D	0.459	0.12632	T	0.267	0.34500	B	0.086	0.35748	B	0.955763	0.07685	U	1.029950	0.999849	0.20103	N	1.39	0.34934	L	0.27	0.59176	T	-0.44	0.14588	N	0.284	0.38027	-0.9837	0.34140	T	0.067	0.27434	T	10	0.013887078	0.00293	T	0.005302	0.13556	T	0.070	0.20419	0.15	0.05339	0.805283226746	0.80346	0.02649781138326378	0.02599	0.558242330845	0.52408	0.392729759216	0.24053	T	0.331055	0.70117	T	-0.498757	0.00581	T	-0.495374	0.22827	T	0.0290585482397297	0.01847	T	0.689231	0.29860	T	0.064302005	0.13628	0.054849472	0.09511	0.064302005	0.13628	0.054849472	0.09511	-5.457	0.41596	T	.	.	0.105	0.24599	B	.;.;.	.;.;.	1.633908	0.20861	14.94	0.97159772861086946	0.32625	0.25761	0.22795	N	AEFBCI	0.129270	0.24738	N	-0.314305197414442	0.28604	1.579084	-0.235455491484538	0.30276	1.70326	0.635621410917293	0.22007	0.706298	0.61202	0	0.585951	0.33947	0	0.709663	0.75317	0	0.550183	0.17644	0	.	.	4.5	3.57	0.40014	1.231000	0.32226	2.153000	0.30925	0.676000	0.76740	0.308000	0.25396	0.869000	0.27571	0.982000	0.59238	0.0:0.0:0.778:0.222	9.765	0.39724	707	0.57054	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1027.49	33	chr1	156807225	.	G	T	1027.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.015;DP=263;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=1.24;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1142	6	0	1	0
chr1	156912949	156912949	G	A	exonic	PEAR1	.	nonsynonymous SNV	PEAR1:NM_001080471:exon18:c.G2389A:p.G797R,PEAR1:NM_001353682:exon18:c.G2197A:p.G733R,PEAR1:NM_001353683:exon19:c.G2197A:p.G733R	.	409	1109	4	0	0	4	0.00180018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.310	0.0293202151521	0.0003	.	0.0002	9.647e-05	8.642e-05	0	0	0.0003	0	0.0001	0.0002329	36	154602	rs139657197	0.0003	0.0003	0.0003	0.0003	0.0007	0.0003	0.0003	0.0004	0.0004	0.0001	0.0001	3.826e-05	0	0	0.0007	0.0004	8.279e-05	0.0003	0.0001	0.0001	0.0002	0.0001	0.0003	9.744e-05	8.258e-05	0.0001	9.897e-05	9.655e-05	0	0.0003	0	0	0	0	0.0002	0	0	0.484	0.08140	T	0.157	0.31730	T	0.01	0.15535	B	0.003	0.08700	B	0.004304	0.33881	N	0.134369	0.822504	0.28864	N	1.59	0.40313	L	-2.43	0.88689	D	-1.65	0.39503	N	0.511	0.54234	-0.9279	0.44444	T	0.206	0.56512	T	10	0.16530746	0.30901	T	0.02932	0.51849	D	0.310	0.63162	0.419	0.46036	0.527958119908	0.52444	0.6244612048338645	0.62379	0.206308165025	0.23055	0.500867009163	0.38949	T	0.00713	0.06547	T	-0.160829	0.26632	T	-0.16138	0.58228	T	0.032410915941	0.02374	T	0.731327	0.34690	T	0.09026464	0.21117	0.07353862	0.15992	0.09026464	0.21117	0.07353862	0.15991	-7.283	0.56074	T	.	.	0.113	0.22391	B	.;.	.;.	3.087737	0.41560	21.4	0.98273714925570888	0.39786	0.76638	0.37603	D	AEFDBHCI	0.163940	0.29028	N	-0.537949618883284	0.20864	1.103026	-0.390143032365924	0.25288	1.389865	0.999999952777013	0.74766	0.722319	0.85440	0	0.563428	0.19063	0	0.596491	0.31596	0	0.735409	0.98432	0	.	.	5.23	4.32	0.50899	4.154000	0.57902	6.635000	0.56164	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.041000	0.14368	0.0894:0.1705:0.7402:0.0	7.274	0.25445	401	0.82673	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	801.83	36	chr1	156912949	.	G	A	801.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.58;DP=233;ExcessHet=0;FS=1.006;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-1.491;SOR=0.892	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr1	156930615	156930615	G	A	exonic	LRRC71	.	nonsynonymous SNV	LRRC71:NM_144702:exon12:c.G1327A:p.E443K	.	417	1104	1	0	0	1	0.000452694	0.9596	0.744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.026708126564	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs568071610	2.132e-05	2.531e-05	2.106e-05	2.159e-05	0.0005	1.512e-05	1.313e-05	0.0001	7.62e-05	0	0	0	0	0	0.0005	2.307e-05	3.422e-05	0	1.315e-05	1.313e-05	0	2.692e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.019	0.50132	D	0.039	0.51112	D	0.999	0.77913	D	0.98	0.74843	D	0.000021	0.55875	D	0.000000	0.655707	0.33005	D	1.905	0.50856	L	1.58	0.29085	T	-1.51	0.36787	N	0.646	0.65758	-1.0586	0.12108	T	0.089	0.34381	T	10	0.76309526	0.76496	D	0.026708	0.49594	D	0.204	0.49076	0.44	0.49484	0.434160288164	0.43035	0.2269477358670421	0.22609	0.734598784777	0.62906	0.579318881035	0.49990	T	0.003212	0.02616	T	0.00615934	0.52501	T	-0.228929	0.51875	T	0.946554243564606	0.62494	D	0.659134	0.26825	T	0.22955866	0.45695	0.21319571	0.45820	0.22955866	0.45695	0.21319571	0.45819	-1.954	0.03012	T	.	.	0.497	0.64468	A	.	.	4.987204	0.82651	27.8	0.99898111782852084	0.97048	0.84495	0.43577	D	AEFDBCI	0.647167	0.62244	D	0.490219712305439	0.66517	4.96041	0.471052297713157	0.66079	4.905704	0.999999999590148	0.74766	0.679555	0.55442	0	0.563428	0.19063	0	0.600882	0.32295	2	0.586402	0.36253	0	.	.	5.43	5.43	0.79006	5.113000	0.64480	11.691000	0.94356	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.103000	0.18424	0.0:0.0:1.0:0.0	16.274	0.82461	435	0.80441	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1130.63	36	chr1	156930615	.	G	A	1130.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.187;DP=237;ExcessHet=0;FS=2.191;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.88;ReadPosRankSum=-0.528;SOR=0.428	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1125	6	0	1	0
chr1	157125106	157125106	C	T	exonic	ETV3	.	nonsynonymous SNV	ETV3:NM_001145312:exon5:c.G1274A:p.R425H	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.0037100597417	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs540027756	9.335e-06	8.893e-06	8.492e-06	1.02e-05	0.0002	5.21e-06	4.01e-06	1.056e-05	3.95e-06	6.376e-05	0	0	0	0	0.0002	7.439e-06	0	2.565e-05	1.972e-05	1.97e-05	2.57e-05	1.345e-05	6.545e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.545e-05	0	0	0	0	2.94e-05	0	0	0.173	0.22573	T	0.164	0.31026	T	0.004	0.12183	B	0.001	0.04355	B	0.331982	0.14098	N	0.654779	0.615452	0.30824	N	0.55	0.14455	N	2.49	0.14531	T	-0.76	0.21215	N	0.068	0.04072	-0.9794	0.35139	T	0.006	0.01981	T	10	0.04370433	0.03248	T	0.00371	0.08589	T	0.053	0.14996	0.089	0.00982	0.147330786459	0.14319	0.21531655490691842	0.21447	1.39536593236	0.85076	0.233375579119	0.02227	T	0.111998	0.42793	T	-0.439392	0.01304	T	-0.632264	0.10244	T	0.100771493155598	0.12442	T	0.759724	0.38410	T	0.028028874	0.02081	0.027796576	0.00961	0.028028874	0.02080	0.027796576	0.00961	-4.455	0.30296	T	.	.	0.101	0.17700	B	.	.	2.977820	0.39707	21.0	0.98290937661168543	0.39945	0.75389	0.36909	D	AEFDGBHCI	0.105397	0.21061	N	-0.436101415053912	0.24213	1.305872	-0.231144603160781	0.30426	1.713053	0.999998402067022	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.24	3.32	0.37134	1.637000	0.36769	3.953000	0.40689	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.8931:0.0:0.1069	9.194	0.36379	781	0.47532	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	898.46	33	chr1	157125106	.	C	T	898.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.279;DP=255;ExcessHet=0;FS=0.912;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.712;SOR=0.556	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1123	6	0	1	0
chr1	158652571	158652571	C	G	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon23:c.G3271C:p.A1091P	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.543	0.189188174775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.01	0.65728	D	1.0	0.90584	D	0.999	0.92359	D	0.006559	0.31955	N	0.000000	1	0.81001	D	3.005	0.85968	M	0.21	0.59983	T	-4.21	0.75776	D	0.867	0.86404	-0.3168	0.74511	T	0.356	0.71881	T	10	0.9235935	0.91710	D	0.189188	0.86047	D	0.543	0.80960	0.752	0.88237	0.847815033353	0.84635	0.8614089977129892	0.86104	0.243668225337	0.26869	0.683357298374	0.64751	T	0.692392	0.91068	D	0.299143	0.82899	D	0.191922	0.82678	D	0.995458364486694	0.87455	D	0.752925	0.37500	T	0.9427935	0.95532	0.9255177	0.96783	0.9427935	0.95532	0.9255177	0.96784	-11.24	0.80958	D	0.7227345628681306	0.80392	0.977	0.90609	P	.;.	.;.	4.288278	0.65375	24.8	0.99780095318702455	0.86693	0.98107	0.79657	D	AEFGBI	0.853602	0.77057	D	0.775340336010476	0.84542	8.31683	0.739224692975231	0.85351	8.554286	0.999999987283579	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.21	5.21	0.72005	5.242000	0.65211	4.861000	0.45471	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	17.501	0.87628	602	0.67834	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	43.78	34	chr1	158652571	.	C	G	43.78	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.135;DP=432;ExcessHet=0;FS=219.121;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.27;ReadPosRankSum=0.805;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,36:164:53:0|1:158652571_C_G:53,0,3672:158652571	5	0	1	1
chr1	159782256	159782256	A	T	exonic	DUSP23	.	nonsynonymous SNV	DUSP23:NM_001319658:exon2:c.A371T:p.E124V,DUSP23:NM_001319659:exon3:c.A371T:p.E124V,DUSP23:NM_017823:exon3:c.A371T:p.E124V	.	421	1086	14	1	0	16	0.00731261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.541	0.140856028591	0.0050	0.00219649	0.0052	0.0005	0.0012	0	0.0020	0.0079	0.0044	0.0041	0.0052069	805	154602	rs11544443	0.0061	0.0061	0.0062	0.0061	0.0070	0.0060	0.0060	0.0068	0.0068	0.0009	0.0018	0.0075	2.519e-05	0.0021	0.0023	0.0070	0.0060	0.0049	0.0040	0.0040	0.0043	0.0036	0.0066	0.0037	0.0036	0.0061	0.0059	0.0009	0	0.0018	0.0081	0	0.0014	0	0.0066	0.0052	0.0065	0.148	0.24857	T	0.056	0.46632	T	0.964	0.55854	D	0.756	0.56253	P	0.000113	0.50451	D	0.139150	0.99992	0.51308	D	2.565	0.75005	M	-1.89	0.84557	D	-4.86	0.81187	D	0.66	0.67564	-0.1009	0.80078	T	0.518	0.81966	D	10	0.015188992	0.00319	T	0.140856	0.82329	D	0.541	0.80842	.	.	0.925407252809	0.92464	0.7996346021257574	0.79917	0.491495775432	0.47841	0.668933808804	0.62685	T	0.428778	0.77780	T	-0.212748	0.18994	T	-0.0718355	0.65496	T	0.0297476654947831	0.01950	T	0.945705	0.79334	D	0.67713505	0.76815	0.49208406	0.70619	0.67713505	0.76816	0.49208406	0.70620	-8.526	0.64601	D	.	.	0.385	0.58697	A	.;.;.	.;.;.	4.859542	0.79503	27.1	0.98633325170900865	0.43947	0.92422	0.55675	D	AEFDGBCI	0.921554	0.89521	D	0.464628535523727	0.65036	4.772421	0.441524274570444	0.64176	4.666679	0.999999982191653	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.638787	0.57140	0	.	.	4.32	4.32	0.50899	6.992000	0.76004	8.004000	0.76162	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	11.502	0.49693	929	0.16858	Dual specificity phosphatase, catalytic domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Protein-tyrosine phosphatase, catalytic;Dual specificity phosphatase, catalytic domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Protein-tyrosine phosphatase, catalytic;Dual specificity phosphatase, catalytic domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Protein-tyrosine phosphatase, catalytic	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.017241	0.006098	0.000000	0.2143	5473.72	35	chr1	159782256	.	A	T	5473.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.219;DP=436;ExcessHet=0;FS=1.021;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=19.62;ReadPosRankSum=-0.795;SOR=0.769	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1336	5	1	1	0
chr1	160357099	160357099	C	G	exonic	NCSTN	.	nonsynonymous SNV	NCSTN:NM_001290186:exon13:c.C1439G:p.P480R,NCSTN:NM_015331:exon16:c.C1853G:p.P618R,NCSTN:NM_001290184:exon17:c.C1793G:p.P598R	Acne inversa, familial, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.0576689649956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.115	0.36630	T	0.788	0.44546	P	0.291	0.40706	B	0.000155	0.49130	D	0.219840	0.999843	0.49770	D	2.35	0.67516	M	-1.0	0.76037	T	-1.86	0.43524	N	0.7	0.70439	-0.1422	0.79111	T	0.451	0.78526	T	10	0.6695975	0.70632	D	0.057669	0.67049	D	0.292	0.61157	0.316	0.29258	0.654205460657	0.65131	0.9332265674212082	0.93301	0.371353621194	0.38636	0.430800437927	0.29318	T	0.389617	0.75000	T	0.164177	0.70587	D	-0.00194783	0.70209	D	0.849040687084198	0.50082	D	0.90061	0.65471	D	0.14509284	0.33275	0.1041981	0.25019	0.14509284	0.33275	0.1041981	0.25019	-8.78	0.66270	D	0.6906319644848096	0.76829	0.298	0.52809	B	.	.	3.995584	0.58836	24.0	0.99356296992499116	0.60820	0.91362	0.53381	D	AEFDBI	0.679657	0.64361	D	0.47659074319693	0.65726	4.858862	0.514044553791494	0.68935	5.289106	0.999999966706643	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	4.348000	0.59158	7.661000	0.64234	0.599000	0.40250	0.823000	0.30032	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.058	0.89294	698	0.58074	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	808.44	33	chr1	160357099	.	C	G	808.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.953;DP=291;ExcessHet=0;FS=1.58;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.28;ReadPosRankSum=0.301;SOR=0.722	GT:AD:DP:GQ:PL	0/1:71,40:111:99:819,0,1858	6	0	1	0
chr1	160824180	160824180	G	A	splicing	LY9	NM_002348:exon9:c.1831-1G>A;NM_001261457:exon8:c.1561-1G>A;NM_001261456:exon9:c.1789-1G>A	.	.	.	.	.	.	.	.	.	.	0.9999	0.884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999993	0.23214	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.278787	0.10797	T	-0.638235	0.09799	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.217191	0.43821	21.8	0.95079811824871407	0.26130	0.04676	0.10356	N	AEFDBI	.	.	.	0.341381910044106	0.58285	3.999959	-0.0154552960697631	0.39017	2.307079	0.0101780682389024	0.11979	0.201396	0.04071	1	0.150672	0.03543	2	0.060301	0.00762	0	0.058706	0.01089	0	0.132529	0.26021	3.57	2.63	0.30420	1.059000	0.30127	3.296000	0.37344	0.575000	0.29119	0.216000	0.24491	0.999000	0.35428	0.744000	0.35576	0.0:0.0:0.7637:0.2363	8.258	0.30925	789	0.46346	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1248.63	41	chr1	160824180	.	G	A	1248.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.49;DP=318;ExcessHet=0;FS=6.002;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-0.959;SOR=1.294	GT:AD:DP:GQ:PL	0/1:65,50:115:99:1259,0,1516	6	0	1	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N,ARHGAP30:NM_001287600:exon11:c.G1713C:p.K571N,ARHGAP30:NM_001025598:exon12:c.G2157C:p.K719N	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00594878585391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0009	1.505e-05	9.664e-06	2.999e-05	7.73e-06	6.38e-06	9.36e-06	7.65e-06	2.999e-05	0	0	0	0	0	1.537e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.06691	T	0.539	0.12037	T	0.0	0.02946	B	0.001	0.04355	B	0.167583	0.17472	N	0.469196	1	0.19238	N	0.55	0.14455	N	3.07	0.30133	T	0.59	0.02558	N	0.032	0.00825	-0.9399	0.42632	T	0.010	0.03673	T	10	0.032844096	0.01445	T	0.005949	0.15520	T	0.026	0.05648	0.085	0.00830	0.082315109003	0.07666	0.020223521516263606	0.01975	0.0321919343221	0.03346	0.227677255869	0.01800	T	0.007284	0.06695	T	-0.397532	0.02403	T	-0.808803	0.01692	T	0.0349868424236774	0.02805	T	0.608539	0.22995	T	0.041750744	0.06205	0.033273403	0.02195	0.041750744	0.06205	0.033273403	0.02195	-4.588	0.32020	T	.	.	0.104	0.29560	B	.;.	.;.	0.272084	0.06499	2.975	0.87093396735068451	0.16984	0.17351	0.19799	N	AEFDBCI	0.077101	0.15528	N	-1.02014869570935	0.08186	0.382952	-0.959379613406779	0.10706	0.5409345	0.999970802198825	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	4.64	2.21	0.27042	0.214000	0.17331	0.493000	0.18920	0.587000	0.30956	0.000000	0.06391	0.004000	0.18990	0.038000	0.14061	0.2667:0.4814:0.1544:0.0974	2.806	0.05095	531	0.73574	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	988.67	156	chr1	161048864	.	C	G	988.67	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-5.131;DP=1126;ExcessHet=1.1394;FS=231.764;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.68;ReadPosRankSum=1.96;SOR=9.18	GT:AD:DP:GQ:PL	0/1:159,69:241:99:531,0,3099	2	0	3	2
chr1	161158460	161158460	G	A	exonic	UFC1	.	nonsynonymous SNV	UFC1:NM_016406:exon6:c.G472A:p.V158I	.	429	1091	2	0	0	2	0.000915751	.	.	.	2434019	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.064	0.00514771931186	.	.	4.119e-05	0	8.639e-05	0	0	0	0.0011	0.0002	3.23e-05	5	154602	rs772312889	4.925e-05	4.925e-05	3.403e-05	6.463e-05	0.0007	3.992e-05	3.669e-05	0.0002	0.0001	0	0.0001	0	0	0	0.0007	3.507e-05	6.623e-05	0.0002	4.6e-05	4.597e-05	5.139e-05	4.036e-05	0.0001	2.11e-05	1.527e-05	2.261e-05	9.07e-06	4.828e-05	0	0.0001	0	0	0	0	4.41e-05	0	0	0.51	0.07497	T	0.499	0.11227	T	0.0	0.02946	B	0.001	0.04355	B	0.171837	0.17352	N	0.502377	0.988537	0.24399	N	1.24	0.30952	L	0.92	0.44461	T	-0.15	0.09297	N	0.054	0.02559	-0.9674	0.37733	T	0.015	0.06138	T	10	0.050819278	0.04872	T	0.005148	0.13094	T	0.064	0.18567	0.544	0.65731	0.286081765059	0.28222	0.2995151108597193	0.29864	0.242357803687	0.26745	0.400341570377	0.25116	T	0.037564	0.24522	T	-0.487929	0.00667	T	-0.664353	0.07975	T	0.0231671333312988	0.01043	T	0.842916	0.51943	T	0.11564455	0.27285	0.045510508	0.06140	0.11564455	0.27285	0.045510508	0.06140	-4.477	0.30586	T	0.12982902589927592	0.13598	0.057	0.00553	B	.	.	1.929016	0.24498	16.42	0.82693167709186977	0.14325	0.18225	0.20172	N	AEFDBCI	0.343467	0.43927	N	-0.695511988420684	0.16150	0.8202279	-0.545538195947103	0.20923	1.129553	0.999999079326733	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	4.42	2.5	0.29355	0.502000	0.22302	4.178000	0.42318	0.671000	0.69459	0.183000	0.24101	1.000000	0.68203	0.962000	0.52141	0.1914:0.2765:0.5321:0.0	5.240	0.14784	310	0.87484	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	923.53	36	chr1	161158460	.	G	A	923.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.011;DP=284;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=0.375;SOR=0.68	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	6	0	1	0
chr1	161525664	161525664	G	T	exonic	HSPA6	.	nonsynonymous SNV	HSPA6:NM_002155:exon1:c.G1006T:p.V336F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00188071660749	0.0002	0.000399361	0.0002	0.0004	0.0010	0	0	0.0002	0.0023	0	0.000194	30	154602	rs417707	0.0001	0.0001	0.0001	0.0001	0.0008	0.0001	0.0001	0.0006	0.0005	8.962e-05	0.0008	3.826e-05	2.519e-05	1.873e-05	0.0002	0.0001	0.0002	5.799e-05	0.0003	0.0003	0.0003	0.0003	0.0007	0.0002	0.0002	0.0004	0.0003	0.0004	0	0.0007	0	0	0	0	0.0003	0.0005	0	0.0	0.91255	D	0.001	0.83351	D	0.798	0.44840	P	0.477	0.46994	P	0.064806	0.21926	U	0.220760	1	0.08975	N	4.08	0.97210	H	2.36	0.16089	T	-3.34	0.66325	D	0.486	0.52029	-1.0067	0.27943	T	0.059	0.24760	T	10	0.030601382	0.01188	T	0.001881	0.03299	T	0.116	0.32463	.	.	0.298403945805	0.29456	0.44376738541459615	0.44294	.	.	0.454389870167	0.32544	T	0.092176	0.38950	T	-0.377254	0.03242	T	-0.414377	0.31721	T	0.150707036509307	0.17160	T	0.30037	0.05618	T	0.6783182	0.76879	0.7197446	0.83454	0.6783182	0.76880	0.7197446	0.83455	-10.947	0.79367	D	.	.	0.833	0.78903	P	.	.	1.091388	0.14752	11.30	0.9902332680942435	0.50634	0.03290	0.08340	N	AEFBI	0.087080	0.17656	N	-0.326811390215654	0.28134	1.549242	-0.651519772175005	0.18178	0.9699505	0.998162078887007	0.36515	0.59774	0.34471	0	0.550933	0.16991	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	3.23	-1.77	0.07551	-0.093000	0.11077	-20.000000	0.00162	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.690000	0.33838	0.3694:0.1726:0.2834:0.1746	0.585	0.00671	884	0.28482	Heat shock protein 70, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	112.44	37	chr1	161525664	.	G	T	112.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.508;DP=267;ExcessHet=0;FS=2.808;MLEAC=1;MLEAF=0.071;MQ=53.05;MQRankSum=-1.025;QD=11.24;ReadPosRankSum=0.7;SOR=0.662	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1189	6	0	1	0
chr1	162020019	162020019	G	A	exonic	OLFML2B	.	nonsynonymous SNV	OLFML2B:NM_001297713:exon2:c.C338T:p.S113L,OLFML2B:NM_001347700:exon2:c.C338T:p.S113L,OLFML2B:NM_015441:exon2:c.C338T:p.S113L	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00980654753903	0.0002	0.000399361	0.0001	9.612e-05	0	0	0	0.0001	0	0.0004	0.0001294	20	154602	rs142774017	6.909e-05	6.909e-05	5.581e-05	8.25e-05	0.0004	5.779e-05	5.391e-05	0.0003	0.0003	0	2.236e-05	0	0	0	0.0002	5.665e-05	3.311e-05	0.0004	8.536e-05	8.53e-05	8.994e-05	8.057e-05	0.0008	4.954e-05	3.96e-05	0.0003	0.0002	9.621e-05	0	0.0001	0	0	0	0	4.411e-05	0	0.0008	0.001	0.78490	D	0.011	0.65728	D	0.867	0.47667	P	0.122	0.32387	B	.	.	.	.	0.974445	0.25491	N	1.5	0.37844	L	1.13	0.38556	T	-3.35	0.66436	D	0.447	0.50688	-1.0395	0.17465	T	0.037	0.15899	T	8	0.07872623	0.12583	T	0.009807	0.25586	T	0.033	0.08068	.	.	0.523806315272	0.52025	0.11773384793302144	0.11700	0.146180406376	0.16504	0.536189436913	0.43908	T	0.027123	0.34671	T	-0.377367	0.03236	T	-0.46932	0.25590	T	0.105599096562683	0.12962	T	0.889011	0.62120	D	0.18813284	0.40299	0.30978888	0.56992	0.18813284	0.40298	0.30978888	0.56991	-9.292	0.69557	D	.	.	0.122	0.30450	B	.;.	.;.	3.599088	0.50823	23.0	0.99822196071868152	0.90502	0.82207	0.41470	D	AEFGBI	0.407981	0.47984	N	0.0638791616716387	0.44782	2.746145	0.112114260497695	0.45168	2.784751	0.999999925935882	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.64	4.64	0.57399	1.842000	0.38891	8.238000	0.76846	0.676000	0.76740	0.931000	0.32310	1.000000	0.68203	0.149000	0.20271	0.0:0.0:0.8058:0.1942	10.450	0.43706	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	45.44	33	chr1	162020019	.	G	A	45.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.674;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.57;ReadPosRankSum=-0.385;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1166	6	0	1	0
chr1	162300634	162300634	T	C	exonic	NOS1AP	.	nonsynonymous SNV	NOS1AP:NM_014697:exon4:c.T272C:p.L91P	.	.	.	.	.	.	.	.	0.0299	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.0116747726771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.12961	T	0.187	0.28764	T	0.956	0.54666	P	0.708	0.54437	P	0.034227	0.24796	N	0.359281	0.999998	0.81001	D	-0.345	0.03330	N	2.13	0.19588	T	-0.03	0.07444	N	0.432	0.47115	-1.0549	0.13066	T	0.023	0.09923	T	9	0.30358782	0.47890	T	0.011675	0.29526	T	0.164	0.42212	0.54	0.65161	0.533227312814	0.52972	0.6608802891410464	0.66025	2.0530260791	0.94348	0.63033926487	0.57193	T	0.109572	0.42356	T	-0.0525187	0.44063	T	-0.313216	0.43313	T	0.872241318225861	0.52212	D	0.435556	0.11926	T	0.3121336	0.53970	0.33423737	0.59252	0.3121336	0.53970	0.33423737	0.59251	-4.264	0.27669	T	.	.	0.125	0.26514	B	.	.	4.068433	0.60425	24.2	0.99188387962243507	0.54906	0.92884	0.56783	D	ALL	0.826827	0.74624	D	0.324342231323959	0.57400	3.907224	0.406097093718417	0.61942	4.401872	0.99999999819693	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.459711	0.06710	0	0.567892	0.33627	0	.	.	5.18	5.18	0.71140	5.183000	0.64902	2.731000	0.34388	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	11.419	0.49214	917	0.20147	PTB/PI domain|PTB/PI domain|PTB/PI domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	24	chr1	162300634	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1356	6	1	0	0
chr1	162590487	162590487	G	A	exonic	UAP1	.	nonsynonymous SNV	UAP1:NM_001324114:exon8:c.G1334A:p.G445D,UAP1:NM_001324116:exon8:c.G1334A:p.G445D,UAP1:NM_001324117:exon8:c.G1334A:p.G445D,UAP1:NM_003115:exon8:c.G1334A:p.G445D,UAP1:NM_001324113:exon9:c.G1334A:p.G445D,UAP1:NM_001324115:exon9:c.G1334A:p.G445D	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	0.00920384562214	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1266774736	2.074e-06	2.736e-06	2.749e-06	1.39e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	1.88e-05	0.0002	9.048e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.36509	T	0.109	0.41405	T	0.807	0.45251	P	0.309	0.41361	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.575	0.75298	M	2.28	0.17271	T	-4.85	0.81269	D	0.783	0.81559	-1.0912	0.05335	T	0.022	0.09513	T	9	0.69574285	0.72132	D	0.009204	0.24177	T	0.347	0.66863	0.541	0.65304	0.174091166621	0.17034	0.7374328362549915	0.73688	1.27784336031	0.82451	0.758064389229	0.75642	T	0.315107	0.68673	T	0.163405	0.70517	D	-0.00305717	0.70138	D	0.984004080295563	0.75465	D	0.867113	0.57861	D	0.8102477	0.84570	0.7022881	0.82455	0.8102477	0.84571	0.7022881	0.82456	-9.942	0.73564	D	.	.	0.283	0.52833	B	.;.;.;.	.;.;.;.	4.701379	0.75437	26.3	0.99848909297241106	0.92838	0.99555	0.97394	D	AEFGBI	0.896864	0.83839	D	0.424197096565172	0.62755	4.496837	0.509394178442256	0.68620	5.245364	0.999999912134821	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.711	0.71501	0	.	.	4.93	4.93	0.64394	7.530000	0.80856	9.863000	0.82071	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	16.890	0.85953	810	0.42761	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	442.53	34	chr1	162590487	.	G	A	442.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.291;DP=215;ExcessHet=0;FS=3.331;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-0.893;SOR=1.508	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1191	6	0	1	0
chr1	165743215	165743215	G	C	exonic	TMCO1	.	nonsynonymous SNV	TMCO1:NM_001256164:exon6:c.C471G:p.D157E,TMCO1:NM_001256165:exon6:c.C384G:p.D128E,TMCO1:NM_019026:exon6:c.C420G:p.D140E	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.00561825470216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.32355	T	0.36	0.33860	B	0.366	0.43381	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.23	0.30720	L	.	.	.	.	.	.	0.873	0.94550	-0.9809	0.34794	T	0.105	0.38513	T	8	0.7058418	0.72732	D	0.005618	0.14530	T	0.283	0.60100	0.787	0.90993	0.162503812791	0.15892	0.8982099665768731	0.89791	0.898319418033	0.70545	0.813728034496	0.84064	D	0.273669	0.64613	T	0.317	0.84250	D	0.217429	0.84044	D	0.938554227352142	0.60927	D	0.90061	0.74830	D	0.30915323	0.53713	0.28407496	0.54403	0.30915323	0.53713	0.28407496	0.54403	.	.	.	.	.	0.877	0.81325	P	.;.;.;.;.;.	.;.;.;.;.;.	3.073706	0.41320	21.3	0.99659428855862664	0.77820	0.98300	0.81404	D	AEFGBI	0.671349	0.63812	D	-0.0328772314455231	0.40371	2.396296	0.0994292813719545	0.44519	2.732209	0.972625305894158	0.29387	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	6.17	4.33	0.51083	5.433000	0.66269	5.507000	0.48788	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1486:0.0:0.8514:0.0	11.107	0.47427	893	0.26510	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	87.83	40	chr1	165743215	.	G	C	87.83	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.222;DP=328;ExcessHet=0.4139;FS=330.863;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=0.628;SOR=8.764	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1122	4	0	2	1
chr1	167438643	167438643	T	C	exonic	CD247	.	nonsynonymous SNV	CD247:NM_000734:exon4:c.A227G:p.N76S,CD247:NM_198053:exon4:c.A227G:p.N76S,CD247:NM_001378515:exon5:c.A320G:p.N107S,CD247:NM_001378516:exon5:c.A320G:p.N107S	.	0	1521	1	0	0	1	0.000328623	.	.	.	1039589	Immunodeficiency_25|not_specified	MONDO:MONDO:0012426,MedGen:C1857798,OMIM:610163|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.112	0.00449724863141	.	.	.	.	.	.	.	.	.	.	.	.	.	rs943679483	3.011e-05	3.01e-05	3.541e-05	2.476e-05	3.689e-05	2.282e-05	2.033e-05	2.744e-05	2.47e-05	0	0	0	0	0	0	3.689e-05	4.968e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.11957	T	0.547	0.09621	T	0.032	0.20242	B	0.036	0.22909	B	0.585635	0.11100	U	0.739987	0.994086	0.23590	N	1.445	0.36358	L	0.82	0.48142	T	-2.24	0.50175	N	0.199	0.21969	-1.0315	0.19970	T	0.041	0.17785	T	9	0.16297442	0.30529	T	0.004497	0.11063	T	0.112	0.31546	0.739	0.87147	0.43528964386	0.43150	0.12390193558224058	0.12316	0.145740688672	0.16458	0.431688040495	0.29440	T	0.192972	0.54829	T	-0.324622	0.06526	T	-0.704073	0.05606	T	0.142567962408066	0.16494	T	0.713829	0.34191	T	0.1761152	0.38507	0.10494455	0.25217	0.1761152	0.38507	0.10494455	0.25217	-5.601	0.44154	T	0.09241084381842628	0.05970	0.077	0.07554	B	.;.	.;.	1.107248	0.14919	11.44	0.93353122832408564	0.23089	0.09971	0.15603	N	AEFDBI	0.073766	0.14764	N	-0.549274531750015	0.20507	1.081526	-0.481261807888518	0.22671	1.232499	0.999811696065105	0.43459	0.676563	0.55306	0	0.563428	0.19063	0	0.673471	0.61138	0	0.530356	0.10902	0	.	.	4.52	2.14	0.26518	0.316000	0.19217	1.115000	0.24192	0.665000	0.62972	0.285000	0.25187	0.904000	0.28019	0.975000	0.56047	0.0:0.1116:0.275:0.6134	4.628	0.11873	905	0.23532	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1528.44	33	chr1	167438643	.	T	C	1528.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.93;DP=327;ExcessHet=0;FS=3.13;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.291;SOR=0.974	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1200	6	0	1	0
chr1	167974997	167974997	T	-	exonic	DCAF6	.	frameshift deletion	DCAF6:NM_001198957:exon3:c.327delT:p.Y110Mfs*8,DCAF6:NM_001017977:exon4:c.420delT:p.Y141Mfs*8,DCAF6:NM_001198956:exon4:c.420delT:p.Y141Mfs*8,DCAF6:NM_001349773:exon4:c.420delT:p.Y141Mfs*8,DCAF6:NM_018442:exon4:c.420delT:p.Y141Mfs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	46.4	33	chr1	167974996	.	AT	A	46.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.834;DP=195;ExcessHet=0;FS=4.771;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.73;ReadPosRankSum=-1.111;SOR=0.039	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1070	6	0	1	0
chr1	168045049	168045049	G	C	exonic	DCAF6	.	nonsynonymous SNV	DCAF6:NM_001349780:exon13:c.G1408C:p.E470Q,DCAF6:NM_001017977:exon14:c.G1849C:p.E617Q,DCAF6:NM_001349777:exon14:c.G1468C:p.E490Q,DCAF6:NM_001349778:exon14:c.G1408C:p.E470Q,DCAF6:NM_001349779:exon14:c.G1408C:p.E470Q,DCAF6:NM_001198957:exon15:c.G1987C:p.E663Q,DCAF6:NM_001349774:exon15:c.G1468C:p.E490Q,DCAF6:NM_001349775:exon15:c.G1468C:p.E490Q,DCAF6:NM_001349776:exon15:c.G1468C:p.E490Q,DCAF6:NM_018442:exon15:c.G1909C:p.E637Q,DCAF6:NM_001198956:exon16:c.G2080C:p.E694Q,DCAF6:NM_001349773:exon16:c.G2080C:p.E694Q	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00323947396023	7.7e-05	.	0.0003	0	0	0	0	0.0001	0.0011	0.0018	0.0002781	43	154602	rs147907503	0.0003	0.0003	0.0002	0.0003	0.0021	0.0002	0.0002	0.0018	0.0017	2.987e-05	4.475e-05	0	0	3.744e-05	0.0007	0.0001	0.0003	0.0021	0.0002	0.0002	0.0002	0.0002	0.0019	0.0001	0.0001	0.0010	0.0007	0	0	0.0003	0	0	0	0	0.0002	0	0.0019	0.06	0.39097	T	0.553	0.09931	T	0.321	0.53183	B	0.334	0.44752	B	0.053270	0.22822	N	0.440276	1	0.08975	N	1.905	0.50856	L	1.58	0.29085	T	-0.75	0.22944	N	0.113	0.10769	-1.0741	0.08535	T	0.023	0.09741	T	9	0.010872841	0.00240	T	0.003239	0.07147	T	0.050	0.13987	.	.	0.282416095408	0.27849	0.1277394271299239	0.12699	0.402464485075	0.41201	0.270843923092	0.06251	T	0.029898	0.21320	T	-0.566031	0.00234	T	-0.593105	0.13398	T	0.0276251095796761	0.01633	T	0.768023	0.39669	T	0.0970485	0.22870	0.06738257	0.13933	0.113138095	0.26722	0.07012239	0.14860	-3.936	0.25995	T	0.1954546748012736	0.25786	0.090	0.12891	B	.;.;.;.	.;.;.;.	2.029792	0.25795	16.89	0.97351872574069476	0.33529	0.70758	0.34724	D	AEFGBI	0.237327	0.35962	N	-0.396958512177019	0.25577	1.389465	-0.354555808344517	0.26369	1.456023	0.999990418588841	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	3.38	0.37806	2.173000	0.42099	3.797000	0.39853	0.618000	0.50648	0.729000	0.28913	0.766000	0.26662	0.989000	0.64315	0.0:0.2862:0.7138:0.0	14.113	0.64666	555	0.71762	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	5996.44	35	chr1	168045049	.	G	C	5996.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.276;DP=537;ExcessHet=0;FS=0.413;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.47;ReadPosRankSum=0.253;SOR=0.745	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,99,1485:.	6	0	1	0
chr1	169169493	169169493	T	C	exonic	NME7	.	nonsynonymous SNV	NME7:NM_013330:exon11:c.A1052G:p.Q351R,NME7:NM_197972:exon11:c.A944G:p.Q315R	.	.	.	.	.	.	.	.	.	.	.	2695832	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.00415405226665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	1.159e-05	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.15984	T	0.682	0.06090	T	0.002	0.09854	B	0.007	0.12992	B	0.001418	0.39109	N	0.288766	0.783001	0.34291	D	-0.005	0.05143	N	0.66	0.52416	T	-0.53	0.17417	N	0.502	0.53445	-0.9996	0.30030	T	0.019	0.07753	T	9	0.27536908	0.45094	T	0.004154	0.09963	T	0.041	0.10877	0.339	0.32979	0.499218193508	0.49558	0.5400535357227382	0.53930	0.0950001848615	0.10726	0.657689929008	0.61079	T	0.089741	0.38436	T	-0.167406	0.25627	T	-0.478243	0.24634	T	0.333209447615301	0.26353	T	0.833717	0.50261	T	0.065556	0.14023	0.097577974	0.23231	0.065556	0.14023	0.097577974	0.23231	-6.707	0.59574	T	.	.	0.097	0.18456	B	.;.	.;.	2.646220	0.34442	19.63	0.91554699657638794	0.20833	0.83412	0.42531	D	AEFI	0.486901	0.52587	N	-0.66823313931019	0.16931	0.8669404	-0.432380388497019	0.24053	1.31503	0.264624508514836	0.18827	0.706298	0.61202	0	0.670034	0.63936	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.48	3.14	0.35196	4.424000	0.59617	5.005000	0.46626	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0754:0.1436:0.781	7.468	0.26500	624	0.65661	Nucleoside diphosphate kinase-like domain|Nucleoside diphosphate kinase-like domain|NDPK7, second NDPk domain;Nucleoside diphosphate kinase-like domain|Nucleoside diphosphate kinase-like domain|NDPK7, second NDPk domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	491.63	33	chr1	169169493	.	T	C	491.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.723;DP=259;ExcessHet=0;FS=3.089;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.65;ReadPosRankSum=-1.632;SOR=1.134	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1199	6	0	1	0
chr1	169380585	169380585	G	A	exonic	BLZF1	.	nonsynonymous SNV	BLZF1:NM_001320973:exon5:c.G773A:p.R258H,BLZF1:NM_003666:exon5:c.G773A:p.R258H	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	0.0093	0.00678914	0.0033	0.0199	0.0019	0.0003	0	0.0024	0.0044	0.0002	0.0031047	480	154602	rs113548186	0.0015	0.0015	0.0015	0.0015	0.0197	0.0014	0.0014	0.0185	0.0180	0.0197	0.0023	0.0277	0.0002	0	0.0056	0.0004	0.0038	0.0004	0.0068	0.0068	0.0069	0.0067	0.0194	0.0064	0.0063	0.0183	0.0179	0.0194	0	0.0026	0.0346	0.0004	0	0.0068	0.0007	0.0047	0.0004	0.008	0.58626	D	0.018	0.59732	D	0.998	0.73220	D	0.855	0.60933	P	0.001317	0.39449	N	0.291232	0.999937	0.51612	D	2.33	0.66821	M	1.24	0.36691	T	-3.16	0.64246	D	0.646	0.65758	-0.9289	0.44299	T	0.142	0.46257	T	9	0.007812947	0.00177	T	.	.	.	0.172	0.43662	.	.	0.427829143865	0.42401	0.3679452539685849	0.36708	0.150431908582	0.16971	0.410969048738	0.26591	T	0.082363	0.36811	T	-0.458671	0.01002	T	-0.41603	0.31532	T	0.0249614407608216	0.01268	T	0.955004	0.82846	D	0.16455896	0.36671	0.13339183	0.31987	0.16455896	0.36671	0.13339183	0.31986	-5.885	0.45307	T	.	.	0.126	0.27252	B	.;.	.;.	4.965712	0.82135	27.7	0.99954727912073627	0.99969	0.96326	0.68592	D	AEFGBI	0.643305	0.61996	D	0.701982641441777	0.79761	7.146722	0.707025302671433	0.82914	7.886153	0.999898639773671	0.45129	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	5.356000	0.65817	8.176000	0.76768	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.437	0.94791	492	0.76569	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.000000	0.014946	0.008772	0.000000	0.008621	0.012195	0.000000	0.07143	1029.44	34	chr1	169380585	.	G	A	1029.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.584;DP=275;ExcessHet=0;FS=0.769;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=0.14;SOR=0.566	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1142	6	0	1	0
chr1	169593677	169593677	C	T	exonic	SELP	.	nonsynonymous SNV	SELP:NM_003005:exon14:c.G2335A:p.V779M	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00900363455571	7.7e-05	0.000599042	0.0003	0	0	0	0	0	0.0011	0.0022	0.0002587	40	154602	rs377161237	0.0002	0.0002	0.0001	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	2.99e-05	0	0	0	0	0.0002	2.699e-06	0.0003	0.0024	0.0001	0.0001	6.424e-05	0.0002	0.0031	8.659e-05	7.252e-05	0.0019	0.0015	9.626e-05	0	0	0	0.0002	0	0	0	0	0.0031	0.064	0.38407	T	0.04	0.54541	D	.	.	.	.	.	.	0.018760	0.27412	N	0.255316	0.999547	0.27999	N	.	.	.	2.06	0.28189	T	-1.29	0.32387	N	0.376	0.46555	-1.0947	0.04795	T	0.033	0.14073	T	10	0.012323827	0.00265	T	0.009004	0.23702	T	0.082	0.23913	.	.	0.314417295294	0.31040	0.48607025436450213	0.48527	0.126491588652	0.14259	0.370307326317	0.20875	T	0.059	0.30887	T	-0.432395	0.01434	T	-0.400358	0.33342	T	0.0384888360256053	0.03420	T	0.832017	0.49964	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.16626	B	.;.;.;.	.;.;.;.	2.345666	0.30063	18.32	0.99341554214217942	0.60210	0.39133	0.26144	N	AEFBI	0.203934	0.33041	N	-0.0663899021762433	0.38874	2.283547	-0.0467434511143918	0.37632	2.205989	0.999362969463397	0.39301	0.623552	0.39893	0	0.491513	0.07743	0	0.547309	0.15389	0	0.579976	0.35079	0	.	.	5.62	4.7	0.58776	1.005000	0.29436	3.944000	0.40624	0.599000	0.40250	0.727000	0.28892	0.999000	0.35428	0.153000	0.20410	0.171:0.829:0.0:0.0	12.099	0.53070	743	0.52768	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1214.45	34	chr1	169593677	.	C	T	1214.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.092;DP=307;ExcessHet=0;FS=0.664;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=1.05;SOR=0.587	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1284	6	0	1	0
chr1	169612376	169612376	G	A	exonic	SELP	.	nonsynonymous SNV	SELP:NM_003005:exon6:c.C802T:p.P268S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285	0.0358733429647	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1262285313	6.841e-07	6.84e-07	1.361e-06	0	2.237e-05	0	0	.	.	0	2.237e-05	0	0	0	0	0	0	0	6.572e-06	6.567e-06	0	1.345e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.02	0.65419	D	0.04	0.70582	D	.	.	.	.	.	.	0.025565	0.26066	N	0.195103	0.995654	0.81001	D	.	.	.	-0.13	0.64818	T	-4.96	0.94073	D	0.178	0.37923	0.414	0.89315	D	0.580	0.84880	D	10	0.9586885	0.95254	D	0.035873	0.56631	D	0.427	0.73445	0.808	0.92512	0.833602840456	0.83202	0.6118694253647528	0.61118	0.335818286482	0.35586	0.319587647915	0.13358	T	0.114258	0.57692	T	0.0281254	0.55474	T	-0.114511	0.62250	T	0.924415051937103	0.58558	D	0.860114	0.55285	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.54175	B	.;.;.;.;.	.;.;.;.;.	3.586463	0.50588	23.0	0.99818919324574362	0.90238	0.95125	0.63529	D	AEFBI	0.449841	0.50449	N	0.253865896875593	0.53829	3.550362	0.146407382324725	0.46952	2.932902	0.999994691240137	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.39	5.39	0.77615	1.755000	0.38008	6.433000	0.55637	0.676000	0.76740	0.951000	0.33123	1.000000	0.68203	0.029000	0.12982	0.0:0.0:1.0:0.0	15.879	0.78971	775	0.48401	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1582.44	40	chr1	169612376	.	G	A	1582.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.206;DP=336;ExcessHet=0;FS=6.716;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.85;SOR=0.336	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1386	6	0	1	0
chr1	169851821	169851821	G	A	exonic	C1orf112	.	nonsynonymous SNV	C1orf112:NM_001366773:exon21:c.G1280A:p.G427E,C1orf112:NM_001320048:exon22:c.G1844A:p.G615E,C1orf112:NM_001366768:exon22:c.G2162A:p.G721E,C1orf112:NM_001366772:exon22:c.G1280A:p.G427E,C1orf112:NM_001363739:exon23:c.G1280A:p.G427E,C1orf112:NM_001366769:exon23:c.G2423A:p.G808E,C1orf112:NM_001366770:exon23:c.G2423A:p.G808E,C1orf112:NM_001320047:exon24:c.G2249A:p.G750E,C1orf112:NM_001366771:exon24:c.G1280A:p.G427E	.	431	1081	10	0	0	10	0.00460405	.	.	.	2806150	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.020	0.00551394939243	0.0035	0.00119808	0.0032	0.0005	0.0010	0	0.0041	0.0043	0.0055	0.0029	0.0030789	476	154602	rs74523449	0.0038	0.0038	0.0038	0.0039	0.0043	0.0038	0.0037	0.0042	0.0041	0.0004	0.0007	0.0014	2.52e-05	0.0049	0.0017	0.0043	0.0027	0.0038	0.0027	0.0027	0.0029	0.0025	0.0047	0.0025	0.0024	0.0042	0.0041	0.0007	0	0.0007	0.0012	0	0.0034	0	0.0047	0.0024	0.0033	0.434	0.09430	T	1.0	0.06576	T	0.006	0.13644	B	0.016	0.17743	B	0.003131	0.35389	N	0.313387	0.999969	0.18878	N	1.59	0.40313	L	1.04	0.40218	T	0.04	0.06488	N	0.225	0.25253	-1.0564	0.12672	T	0.024	0.10284	T	10	0.004492849	0.00092	T	0.005514	0.14197	T	0.020	0.03691	.	.	0.396794106654	0.39292	0.2651336989800043	0.26426	0.0809065131019	0.09109	.	.	.	0.007202	0.06615	T	-0.573593	0.00211	T	-0.59671	0.13089	T	0.00480137679770692	0.00052	T	0.643636	0.25592	T	0.026224706	0.01653	0.04886347	0.07347	0.026224706	0.01653	0.04886347	0.07346	-3.752	0.22077	T	.	.	0.123	0.35247	B	.;.;.	.;.;.	1.788939	0.22740	15.74	0.87281711957695274	0.17116	0.53669	0.29428	D	AEFGBI	0.084856	0.17200	N	-0.513183891308574	0.21653	1.150718	-0.355549339792196	0.26337	1.454112	0.701617323053937	0.22707	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.57	3.67	0.41236	2.017000	0.40600	2.122000	0.30726	-0.103000	0.15852	0.738000	0.29006	0.939000	0.28734	0.944000	0.48669	0.0863:0.0:0.7481:0.1656	7.432	0.26307	490	0.76723	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	604.53	38	chr1	169851821	.	G	A	604.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.676;DP=213;ExcessHet=0;FS=8.324;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=2.09;SOR=0.094	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1155	6	0	1	0
chr1	171110797	171110797	G	A	splicing	FMO3	NM_001319173:exon7:c.568-1G>A;NM_001002294:exon6:c.628-1G>A;NM_006894:exon6:c.628-1G>A;NM_001319174:exon5:c.439-1G>A	.	.	Trimethylaminuria, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.946	YES	2923944	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	8.245e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs779056077	4.105e-06	4.104e-06	4.084e-06	4.126e-06	5.397e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.397e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248309	0.78443	D	0.134388	0.79178	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.873963	0.93905	33	0.99311456576689727	0.59017	0.95531	0.65092	D	AEFBI	.	.	.	0.942690804425647	0.93687	12.20858	0.737585071532207	0.85225	8.518031	0.999999794574893	0.74766	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.87932	0.54673	4.99	4.08	0.46880	8.821000	0.91637	11.534000	0.93101	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.824000	0.38829	0.0785:0.0:0.9215:0.0	12.979	0.57957	713	0.56348	.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	790.45	35	chr1	171110797	.	G	A	790.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.63;DP=240;ExcessHet=0;FS=2.254;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-1.051;SOR=1.013	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1317	6	0	1	0
chr1	171205623	171205623	G	C	exonic	FMO2	.	nonsynonymous SNV	FMO2:NM_001301347:exon5:c.G512C:p.R171T,FMO2:NM_001365900:exon6:c.G977C:p.R326T,FMO2:NM_001460:exon7:c.G1172C:p.R391T	.	431	1064	26	1	0	28	0.012987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.473	.	0.0049	0.0115815	0.0040	0.0172	0.0047	0	0	0.0006	0.0036	0.0150	0.0035834	554	154602	rs28369899	0.0016	0.0016	0.0012	0.0019	0.0175	0.0015	0.0015	0.0163	0.0158	0.0175	0.0032	3.911e-05	2.525e-05	0	0.0135	0.0003	0.0032	0.0107	0.0055	0.0055	0.0053	0.0057	0.0154	0.0052	0.0050	0.0144	0.0140	0.0154	0	0.0062	0	0	0	0.0102	0.0005	0.0047	0.0112	0.001	0.78490	D	0.002	0.79402	D	.	.	.	.	.	.	0.000002	0.62929	D	0.094778	0.999957	0.52396	D	.	.	.	0.41	0.57100	T	-4.86	0.81187	D	0.716	0.71854	-0.0738	0.80691	T	0.401	0.75195	T	10	0.012713671	0.00272	T	.	.	.	0.473	0.76619	.	.	0.927178182052	0.92643	0.769924132341514	0.76941	.	.	0.644250631332	0.59169	T	.	.	.	-0.329994	0.06112	T	-0.233164	0.51465	T	0.0435719167914988	0.04342	T	0.950005	0.80823	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.390	0.59016	A	.	.	5.146066	0.86174	28.8	0.98568330491178069	0.43076	0.99608	0.97942	D	AEFBI	0.871379	0.79274	D	0.950511489294664	0.94005	12.43282	0.863264346806545	0.93768	12.26565	0.999999999830897	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.55	5.55	0.83298	9.984000	0.99176	7.393000	0.58525	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.0:1.0:0.0	18.647	0.91371	739	0.53257	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016327	0.010101	0.023098	0.018987	0.000000	0.017241	0.006098	0.018939	0.07143	555.49	33	chr1	171205623	.	G	C	555.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.868;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=2.08;SOR=0.512	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1093	6	0	1	0
chr1	173207098	173207098	C	T	exonic	TNFSF4	.	nonsynonymous SNV	TNFSF4:NM_003326:exon1:c.G79A:p.V27M	.	426	1070	24	2	0	28	0.0129151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	.	0.0002	0.00199681	0.0024	9.612e-05	0.0006	0	0	0.0004	0.0033	0.0153	0.0020181	312	154602	rs199835957	0.0012	0.0012	0.0007	0.0016	0.0149	0.0011	0.0011	0.0142	0.0140	0	0.0009	0.0012	5.039e-05	0	0.0030	0.0002	0.0015	0.0149	0.0007	0.0007	0.0004	0.0010	0.0139	0.0006	0.0006	0.0112	0.0103	4.813e-05	0	0.0011	0.0006	0.0002	0	0	0.0002	0.0009	0.0139	0.004	0.65419	D	0.008	0.67890	D	0.999	0.77913	D	0.927	0.66185	D	0.056225	0.22577	N	0.379769	0.762336	0.34053	D	1.955	0.52871	M	.	.	.	-2.73	0.58085	D	0.508	0.53972	-0.5031	0.68538	T	0.261	0.63230	T	9	0.009205133	0.00208	T	.	.	.	0.192	0.47115	.	.	0.347659731818	0.34379	0.6909411628972086	0.69034	0.837915334682	0.67891	0.408709019423	0.26278	T	0.819008	0.95554	D	-0.315653	0.07260	T	-0.213866	0.53325	T	0.0776720288139792	0.09686	T	0.761924	0.38711	T	0.15038362	0.34238	0.21194471	0.45643	0.15038362	0.34238	0.21194471	0.45642	-5.079	0.37685	T	.	.	0.333	0.55452	B	.	.	3.436727	0.47789	22.5	0.9987778635413902	0.95410	0.76223	0.37367	D	AEFDGBCIJ	0.238707	0.36079	N	0.545485646877872	0.69808	5.409865	0.48935201874849	0.67284	5.063272	0.999999999772002	0.74766	0.516011	0.20929	0	0.52208	0.09955	0	0.577349	0.28860	0	0.56214	0.19341	0	.	.	5.67	4.75	0.59954	1.821000	0.38680	2.123000	0.30732	0.599000	0.40250	1.000000	0.71638	0.994000	0.32194	0.341000	0.25455	0.0:0.9119:0.0:0.0881	10.932	0.46434	834	0.38640	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.007576	0.07143	2002.49	37	chr1	173207098	.	C	T	2002.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.455;DP=340;ExcessHet=0;FS=2.001;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=0.73;SOR=0.544	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr1	175080252	175080252	C	T	exonic	TNN	.	nonsynonymous SNV	TNN:NM_022093:exon4:c.C874T:p.L292F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0169774678587	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs753816847	6.84e-06	6.84e-06	2.722e-06	1.1e-05	0.0001	3.46e-06	2.52e-06	5.395e-05	4.042e-05	0	0	0	0	0	0	0	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	0.27904	T	0.041	0.50514	D	0.73	0.42641	P	0.728	0.55195	P	0.006017	0.32339	N	0.331465	0.505994	0.31686	N	2.135	0.59519	M	0.39	0.57419	T	-3.01	0.62518	D	0.072	0.11340	-0.7218	0.59374	T	0.206	0.56512	T	10	0.21596736	0.38165	T	0.016977	0.38486	T	0.179	0.44899	0.474	0.55020	0.740784487212	0.73845	0.49222371717512126	0.49143	0.129734050754	0.14629	0.39754897356	0.24728	T	0.034629	0.23397	T	-0.343228	0.05168	T	-0.528146	0.19471	T	0.573994696140289	0.35388	D	0.644436	0.26150	T	0.19847086	0.41751	0.24750939	0.50282	0.19847086	0.41751	0.24750939	0.50281	-6.983	0.53909	T	.	.	0.107	0.20508	B	.;.;.	.;.;.	2.841675	0.37494	20.5	0.98882583090296816	0.47859	0.81873	0.41192	D	AEFDBI	0.167508	0.29419	N	-0.214885555519962	0.32522	1.835048	-0.223174366546575	0.30708	1.731301	0.0107553025494294	0.12076	0.580535	0.33130	0	0.563428	0.19063	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.69	3.8	0.42887	0.308000	0.19071	0.579000	0.19686	-0.172000	0.11096	0.994000	0.38300	0.929000	0.28499	0.963000	0.52385	0.2324:0.6355:0.0:0.1322	7.905	0.28919	556	0.71678	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1036.49	38	chr1	175080252	.	C	T	1036.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.697;DP=248;ExcessHet=0;FS=0.976;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=0.493;SOR=0.857	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1162:.	6	0	1	0
chr1	175097446	175097446	G	A	exonic	TNN	.	nonsynonymous SNV	TNN:NM_022093:exon8:c.G1618A:p.D540N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00722726408197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	0.09346	T	0.478	0.21411	T	0.007	0.14184	B	0.05	0.25278	B	0.044195	0.23663	N	0.426155	1	0.08975	N	1.7	0.43825	L	0.41	0.57100	T	-1.17	0.29933	N	0.116	0.28028	-1.0122	0.26228	T	0.109	0.39415	T	10	0.057217658	0.06537	T	0.007227	0.19171	T	0.074	0.21613	0.36	0.36385	0.589254406313	0.58601	0.36356376524649753	0.36270	0.101460948195	0.11481	0.257430016994	0.04590	T	8.89E-4	0.00449	T	-0.293613	0.09277	T	-0.659531	0.08299	T	0.136263146996498	0.15949	T	0.678632	0.36245	T	0.03948883	0.05463	0.04373248	0.05508	0.03948883	0.05462	0.04373248	0.05508	-6.52	0.50441	T	.	.	0.087	0.10979	B	.;.	.;.	1.347555	0.17547	13.23	0.97139515987951708	0.32534	0.06659	0.12677	N	AEFDBI	0.060206	0.11427	N	-0.718599909100715	0.15500	0.7816406	-0.673177559965175	0.17633	0.9384645	0.00559338190027076	0.10987	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.63	2.77	0.31614	0.294000	0.18803	-0.351000	0.09744	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.830000	0.39126	0.3633:0.0:0.6367:0.0	8.674	0.33332	659	0.61982	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	54.44	33	chr1	175097446	.	G	A	54.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.369;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.8;ReadPosRankSum=-2.1;SOR=0.307	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1282	6	0	1	0
chr1	175098538	175098538	G	T	exonic	TNN	.	nonsynonymous SNV	TNN:NM_022093:exon9:c.G2062T:p.V688L	.	409	1099	11	3	0	17	0.00767494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.330	.	0.0002	0.0129792	0.0069	9.612e-05	0.0003	0.0013	0	0.0002	0.0022	0.0487	0.0060478	935	154602	rs149504279	0.0029	0.0029	0.0016	0.0042	0.0452	0.0028	0.0028	0.0441	0.0436	0.0001	8.944e-05	0	0.0014	0	0.0024	7.824e-05	0.0033	0.0452	0.0017	0.0017	0.0011	0.0024	0.0508	0.0016	0.0015	0.0456	0.0436	7.219e-05	0	0	0	0.0015	0	0	0.0001	0	0.0508	0.175	0.22400	T	0.207	0.26969	T	0.975	0.58077	D	0.942	0.67772	D	0.000327	0.45700	D	0.199290	0.990747	0.41226	D	1.41	0.35535	L	-0.64	0.72125	T	-0.54	0.16598	N	0.537	0.56489	-0.5629	0.66293	T	0.357	0.71975	T	10	0.008049369	0.00183	T	.	.	.	0.330	0.65226	0.743	0.87486	0.862604737212	0.86127	0.31124368057556756	0.31037	0.260701197531	0.28632	0.43714928627	0.30187	T	0.003354	0.02758	T	-0.385104	0.02892	T	-0.291644	0.45600	T	0.0292466898942131	0.01874	T	0.845715	0.52486	T	0.07294253	0.16263	0.102985725	0.24697	0.07294253	0.16263	0.102985725	0.24697	-8.221	0.62566	D	.	.	0.382	0.58540	A	.	.	3.700298	0.52769	23.3	0.99735804925074412	0.83119	0.58488	0.30655	D	AEFDBI	0.187410	0.31470	N	0.0911687269453933	0.46052	2.851595	0.0926605778240921	0.44179	2.704688	0.0327117578301848	0.14068	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.15	4.17	0.48303	1.006000	0.29449	11.688000	0.94314	0.618000	0.50648	0.672000	0.28366	1.000000	0.68203	0.914000	0.44937	0.0:0.2162:0.6316:0.1522	8.431	0.31919	665	0.61472	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005814	0.000000	0.002717	0.004098	0.000000	0.000000	0.000000	0.015152	0.07143	3676.44	33	chr1	175098538	.	G	T	3676.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.8;DP=501;ExcessHet=0;FS=5.262;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=0.5;SOR=0.829	GT:AD:DP:GQ:PL	0/1:156,143:299:99:3687,0,3543	6	0	1	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	4024.52	38	chr1	175160810	.	C	*	4024.52	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.5;DP=319;ExcessHet=0.0509;FS=3.523;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=15.66;ReadPosRankSum=2.04;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,43:73:99:1|0:175160788_C_CCTT:1482,0,1064:175160788	4	0	3	0
chr1	175403418	175403418	A	C	exonic	TNR	.	nonsynonymous SNV	TNR:NM_003285:exon4:c.T698G:p.L233R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00639544191413	.	.	8.241e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs747554074	6.156e-06	6.156e-06	2.722e-06	9.625e-06	0.0002	2.9e-06	2.1e-06	8.4e-07	5.7e-07	2.987e-05	0	0	0	0	0.0002	3.597e-06	3.311e-05	1.159e-05	6.572e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.022	0.48642	D	0.314	0.19480	T	0.863	0.47474	P	0.372	0.43610	B	0.001729	0.38161	N	0.264206	0.954434	0.37877	D	0.325	0.10370	N	2.9	0.10101	T	-1.25	0.31576	N	0.291	0.34874	-0.9198	0.45581	T	0.018	0.07706	T	10	0.13104439	0.24939	T	0.006395	0.16812	T	0.080	0.23350	0.198	0.11110	0.123314135267	0.11883	0.5671765796127051	0.56645	0.414904228319	0.42158	0.546670198441	0.45387	T	0.208309	0.56821	T	-0.22805	0.16908	T	-0.4685	0.25678	T	0.307477533817291	0.25310	T	0.70423	0.31438	T	0.15723999	0.35441	0.14202955	0.33802	0.15723999	0.35441	0.14202955	0.33801	-4.627	0.32509	T	0.2341751342426329	0.31702	0.078	0.08802	B	.;.	.;.	2.262067	0.28903	17.95	0.98179892216454212	0.38933	0.89411	0.49859	D	AEFDBI	0.472404	0.51753	N	-0.0879739280874074	0.37920	2.213145	-0.0291399122031359	0.38404	2.262181	1.55810628535521E-5	0.02871	0.500041	0.20204	0	0.59043	0.45803	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	6.17	1.11	0.19640	2.473000	0.44803	3.066000	0.36180	0.756000	0.94297	0.998000	0.41325	0.994000	0.32194	0.985000	0.61073	0.6156:0.0:0.2661:0.1183	5.379	0.15483	873	0.30802	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	662.44	33	chr1	175403418	.	A	C	662.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.634;DP=256;ExcessHet=0;FS=3.284;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.6;ReadPosRankSum=0.206;SOR=1.122	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1364	6	0	1	0
chr1	177276287	177276287	G	C	exonic	BRINP2	.	nonsynonymous SNV	BRINP2:NM_021165:exon6:c.G865C:p.V289L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00705353670763	.	.	.	.	.	.	.	.	.	.	.	.	.	rs142708611	1.3e-05	1.3e-05	1.361e-05	1.238e-05	4.472e-05	8.31e-06	6.7e-06	8.52e-06	6.89e-06	0	4.472e-05	0	0	0	0	1.439e-05	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.18122	T	0.344	0.17804	T	0.0	0.02946	B	0.001	0.04355	B	0.187348	0.16940	N	0.620699	0.999892	0.19781	N	1.18	0.29980	L	2.49	0.14531	T	-1.85	0.43334	N	0.323	0.36359	-1.0019	0.29372	T	0.019	0.08173	T	10	0.12766472	0.24279	T	0.007054	0.18676	T	0.030	0.07022	0.331	0.31681	0.161926535498	0.15789	0.3235388457333741	0.32266	0.247725272145	0.27330	0.366266191006	0.20295	T	0.052985	0.29316	T	-0.38049	0.03094	T	-0.608477	0.12108	T	0.0617195777595043	0.07437	T	0.424058	0.11326	T	0.11275018	0.26634	0.13927878	0.33237	0.11275018	0.26634	0.13927878	0.33236	-3.92	0.22602	T	.	.	0.080	0.07841	B	.	.	0.955285	0.13314	9.818	0.87396275523796185	0.17197	0.18951	0.20468	N	AEFI	0.279334	0.39341	N	-0.990188874032692	0.08812	0.4146416	-0.9202569537169	0.11617	0.592903	0.0430242832197016	0.14552	0.581397	0.33459	0	0.59043	0.45803	0	0.565031	0.19037	0	0.564101	0.26826	0	.	.	6.07	-3.15	0.04912	0.136000	0.15794	0.235000	0.16237	-0.106000	0.15538	0.007000	0.17678	0.001000	0.17328	0.968000	0.53726	0.6782:0.0:0.3218:0.0	13.809	0.62743	732	0.54084	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2097.44	33	chr1	177276287	.	G	C	2097.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.023;DP=371;ExcessHet=0;FS=1.818;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-1.572;SOR=0.54	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	6	0	1	0
chr1	178458392	178458392	T	G	exonic	RASAL2	.	nonsynonymous SNV	RASAL2:NM_004841:exon12:c.T2677G:p.S893A,RASAL2:NM_170692:exon14:c.T3100G:p.S1034A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.0114216049172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29158	T	0.278	0.21812	T	0.043	0.21573	B	0.037	0.23121	B	0.002621	0.36243	N	0.257319	0.999848	0.49770	D	1.76	0.45711	L	2.66	0.12575	T	-0.99	0.26200	N	0.567	0.59053	-1.1656	0.00629	T	0.063	0.26172	T	10	0.3042617	0.47952	T	0.011422	0.29027	T	0.153	0.40148	.	.	0.264547087235	0.26054	0.3287832274749324	0.32791	0.760933052735	0.64261	0.763590931892	0.76465	T	0.257658	0.62871	T	-0.0878313	0.38434	T	-0.36394	0.37595	T	0.910913228988647	0.56630	D	0.775922	0.40781	T	0.13848169	0.32025	0.1060774	0.25511	0.13848169	0.32025	0.1060774	0.25511	-6.069	0.47084	T	.	.	0.082	0.10691	B	.;.	.;.	4.549906	0.71601	25.7	0.99662464669221174	0.78011	0.99526	0.97076	D	AEFGBI	0.782047	0.71345	D	0.360545952751108	0.59298	4.108128	0.433310668764328	0.63654	4.603303	0.995768156983183	0.34312	0.631981	0.41245	0	0.588015	0.36545	0	0.779548	0.98927	0	0.635551	0.53088	0	.	.	5.46	5.46	0.80021	7.340000	0.78530	7.800000	0.69123	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:0.0:1.0	15.547	0.75846	574	0.70151	.;Domain of unknown function DUF3498	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1564.49	34	chr1	178458392	.	T	G	1564.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.128;DP=271;ExcessHet=0;FS=5.482;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=-0.734;SOR=0.322	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr1	178521252	178521252	A	G	exonic	TEX35	.	nonsynonymous SNV	TEX35:NM_001170722:exon8:c.A598G:p.N200D,TEX35:NM_001170723:exon8:c.A574G:p.N192D,TEX35:NM_001170724:exon8:c.A574G:p.N192D,TEX35:NM_032126:exon8:c.A574G:p.N192D	.	424	1087	10	1	0	12	0.00548948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0350489334889	0.0019	0.000998403	0.0029	0.0002	0.0052	0.0001	0.0003	0.0036	0.0099	0.0023	0.0027231	421	154602	rs35619308	0.0025	0.0025	0.0024	0.0025	0.0054	0.0024	0.0024	0.0039	0.0034	0.0002	0.0037	0.0170	2.519e-05	0.0011	0.0054	0.0022	0.0034	0.0023	0.0024	0.0024	0.0025	0.0023	0.0024	0.0022	0.0021	0.0021	0.0019	0.0004	0.0626	0.0024	0.0196	0.0002	0.0010	0	0.0024	0.0038	0.0017	0.014	0.53172	D	0.049	0.48336	D	0.557	0.38282	P	0.117	0.35118	B	0.019846	0.27167	N	0.264306	1	0.08975	N	0.895	0.22405	L	2.16	0.19166	T	-3.27	0.65512	D	0.484	0.67736	-0.9711	0.36967	T	0.106	0.38709	T	10	0.0051191747	0.00111	T	0.035049	0.56085	D	0.041	0.10877	.	.	0.328222422547	0.32431	0.05186873901639505	0.05128	0.45569561793	0.45240	0.376475811005	0.21756	T	0.018851	0.15125	T	-0.591496	0.00164	T	-0.624525	0.10833	T	0.0479193392864445	0.05130	T	0.686431	0.29515	T	0.20776632	0.42993	0.17991318	0.40757	0.20776632	0.42992	0.17991318	0.40756	-3.75	0.21674	T	.	.	0.159	0.39999	B	.;.;.	.;.;.	3.830527	0.55368	23.6	0.88047011661222241	0.17676	0.32484	0.24597	N	AEFBI	0.095661	0.19325	N	-0.0685080950234173	0.38780	2.276583	-0.0925411970727767	0.35698	2.068348	0.139201849582681	0.17241	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.96	1.13	0.19758	1.595000	0.36318	7.553000	0.60314	0.691000	0.84096	0.975000	0.34726	1.000000	0.68203	0.951000	0.49849	0.4768:0.3528:0.0:0.1703	5.301	0.15087	804	0.43891	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.005051	0.004076	0.002924	0.000000	0.000000	0.006098	0.003788	0.07143	1996.44	33	chr1	178521252	.	A	G	1996.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.579;DP=339;ExcessHet=0;FS=1.978;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.104;SOR=0.547	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1250	6	0	1	0
chr1	178521265	178521265	G	A	splicing	TEX35	NM_001170722:exon8:c.610+1G>A;NM_032126:exon8:c.586+1G>A;NM_001170723:exon8:c.586+1G>A;NM_001170724:exon8:c.586+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs533799319	3.42e-06	3.42e-06	2.722e-06	4.125e-06	8.961e-05	1e-06	7.3e-07	2.375e-05	1.258e-05	8.961e-05	0	0	0	0	0	0	3.311e-05	0	6.564e-06	6.561e-06	0	1.342e-05	2.405e-05	0	0	.	.	2.405e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.368171	0.87893	D	0.291076	0.87740	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.848008	0.79215	27.1	0.99471350042777529	0.66365	0.87774	0.47429	D	AEFBI	.	.	.	1.02602728374149	0.96490	14.75904	0.859809733137606	0.93576	12.13504	0.999345708181151	0.39222	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.057018	0.00518	0	0.970465	0.72717	5.06	5.06	0.67838	4.266000	0.58669	9.085000	0.78728	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.807000	0.38039	0.0:0.0:1.0:0.0	14.293	0.65842	804	0.43891	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1561.44	112	chr1	178521265	.	G	A	1561.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.413;DP=302;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=-0.009;SOR=0.661	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1250	6	0	1	0
chr1	179445193	179445193	A	G	exonic	AXDND1	.	nonsynonymous SNV	AXDND1:NM_144696:exon16:c.A1787G:p.N596S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0039	0.00399361	0.0014	0.0149	0.0010	0	0	8.139e-05	0	7.914e-05	0.0009961	154	154602	rs143178688	0.0004	0.0004	0.0004	0.0004	0.0120	0.0004	0.0004	0.0110	0.0106	0.0120	0.0008	0	0	0	0.0021	8.613e-05	0.0009	2.545e-05	0.0032	0.0032	0.0034	0.0031	0.0113	0.0030	0.0029	0.0104	0.0101	0.0113	0	0.0011	0	0	0	0.0034	5.888e-05	0.0014	0	0.224	0.18691	T	0.283	0.21478	T	0.096	0.25489	B	0.023	0.19966	B	0.002673	0.36137	N	0.348367	0.984697	0.24777	N	1.545	0.39105	L	2.38	0.15843	T	-1.73	0.41046	N	0.112	0.09914	-1.0564	0.12672	T	0.048	0.20672	T	10	0.009131581	0.00206	T	.	.	.	0.048	0.13305	.	.	0.143124449307	0.13826	0.04672097485263134	0.04615	0.0245501264506	0.02494	0.510898172855	0.40348	T	0.003937	0.03343	T	-0.670054	0.00055	T	-0.724874	0.04564	T	0.00657107953106405	0.00073	T	0.710029	0.32075	T	0.045215562	0.07362	0.05250762	0.08664	0.045215562	0.07362	0.05250762	0.08664	-3.613	0.18045	T	.	.	0.092	0.13503	B	.;.	.;.	1.521301	0.19533	14.31	0.92168722658500912	0.21532	0.57108	0.30290	D	AEFI	0.105212	0.21028	N	-0.487633309516873	0.22485	1.200964	-0.400818502397279	0.24973	1.370644	2.0302683553703E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.65	-1.32	0.08721	0.498000	0.22238	0.181000	0.15632	-0.106000	0.15538	1.000000	0.71638	0.000000	0.08366	0.625000	0.32026	0.3911:0.4447:0.1641:0.0	5.732	0.17316	557	0.71576	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002018	0.010101	0.002725	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	153.83	18	chr1	179445193	.	A	G	153.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.15;DP=124;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.55;ReadPosRankSum=-0.363;SOR=0.765	GT:AD:DP:GQ:PL	0/0:18,0:18:51:0,51,765	6	0	1	0
chr1	179996909	179996909	C	T	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon6:c.C752T:p.A251V	.	430	1091	0	1	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00630035234136	0.0002	0.000199681	0.0001	0	0	0	0	0.0001	0.0022	0.0004	0.0001164	18	154602	rs149644649	9.373e-05	9.44e-05	0.0001	8.664e-05	0.0003	8.093e-05	7.585e-05	0.0002	0.0002	2.987e-05	2.236e-05	0	0	3.746e-05	0.0002	8.904e-05	0.0001	0.0003	5.91e-05	5.906e-05	5.141e-05	6.713e-05	0.0002	3.075e-05	2.209e-05	5.842e-05	4.239e-05	0	0	0	0	0	0	0	0.0001	0	0.0002	1.0	0.11550	T	0.557	0.09205	T	0.0	0.02946	B	0.0	0.01387	B	0.077739	0.21086	N	0.335465	1	0.08975	N	-1.87	0.00254	N	2.14	0.19450	T	0.67	0.02263	N	0.093	0.07262	-0.9859	0.33615	T	0.015	0.06138	T	9	0.0075332224	0.00171	T	0.006	0.16551	T	0.027	0.05988	.	.	0.0675242888579	0.06100	0.050824412617870074	0.05024	0.0675433162862	0.07553	0.321871310472	0.13705	T	0.003862	0.03272	T	-0.546902	0.00304	T	-0.712845	0.05149	T	0.0247158167057292	0.01235	T	0.410359	0.14930	T	0.02306487	0.01016	0.033250574	0.02190	0.02306487	0.01016	0.033250574	0.02189	-3.115	0.11469	T	.	.	0.051	0.00183	B	.;.	.;.	0.426718	0.07970	4.685	0.6903592203035307	0.08844	0.01923	0.05872	N	AEFBI	0.026207	0.01926	N	-1.05339858936749	0.07521	0.3496577	-0.889446620208868	0.12343	0.6343766	0.998633968388086	0.37351	0.489673	0.17934	0	0.71359	0.82159	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	5.47	2.93	0.33092	-0.182000	0.09720	0.940000	0.22845	-1.687000	0.00777	0.088000	0.22533	1.000000	0.68203	0.415000	0.27117	0.1469:0.0844:0.3038:0.4649	2.242	0.03777	185	0.92771	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	1986.44	34	chr1	179996909	.	C	T	1986.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.248;DP=345;ExcessHet=0;FS=0.597;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-1.045;SOR=0.779	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1195	6	0	1	0
chr1	180014239	180014239	G	C	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon10:c.G1786C:p.V596L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.565	0.138735317183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.131	0.34596	T	0.997	0.70673	D	0.933	0.66815	D	0.000494	0.43931	D	0.000000	1	0.81001	D	2.515	0.73286	M	-2.57	0.89692	D	-1.93	0.44852	N	0.804	0.79986	0.672	0.92822	D	0.818	0.93855	D	9	0.7784072	0.77650	D	0.138735	0.82122	D	0.565	0.82232	0.251	0.18912	0.933423527662	0.93273	0.2305698346646848	0.22971	0.406491481352	0.41524	0.817128300667	0.84587	D	0.124088	0.44888	T	0.411747	0.90578	D	0.353669	0.90461	D	0.993486225605011	0.84301	D	0.907609	0.67324	D	0.52510554	0.68551	0.5940318	0.76435	0.52510554	0.68552	0.5940318	0.76436	-8.814	0.66492	D	.	.	0.957	0.87648	P	.	.	4.238175	0.64232	24.7	0.99861407413495462	0.94002	0.99292	0.94053	D	AEFGBI	0.815095	0.73715	D	0.861085333927434	0.89729	10.09338	0.856523218067628	0.93392	12.01194	0.999999999986871	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.6	5.6	0.84997	9.516000	0.97042	11.877000	0.98731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.577	0.95445	185	0.92771	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	75.24	29	chr1	180014239	.	G	C	75.24	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.859;DP=394;ExcessHet=0;FS=284.634;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1;ReadPosRankSum=1.31;SOR=7.195	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:48,12:63:49:.:.:0,49,983:.	4	0	1	2
chr1	180154946	180154948	GCT	-	exonic	QSOX1	.	nonframeshift deletion	QSOX1:NM_001004128:exon1:c.39_41del:p.L19del,QSOX1:NM_002826:exon1:c.39_41del:p.L19del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0127	.	0.0347	0.0556	0.0217	0.0286	0	0.0343	0	0.0351	3.84e-05	1	26028	rs775285773	0.0004	0.0061	0.0004	0.0005	0.0031	0.0004	0.0004	0.0026	0.0024	0.0004	0.0031	0.0011	0.0010	0.0004	0.0003	0.0003	0.0006	0.0010	6.583e-06	0.0001	0	1.347e-05	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	47.23	11	chr1	180154945	.	CGCT	C	47.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0;DP=104;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.29;ReadPosRankSum=-0.66;SOR=0.527	GT:AD:DP:GQ:PL	0/0:19,0:19:54:0,54,810	5	0	1	1
chr1	180928498	180928498	G	A	exonic	KIAA1614	.	nonsynonymous SNV	KIAA1614:NM_020950:exon4:c.G1130A:p.R377H	.	8	1483	31	0	0	31	0.0103437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00478836373479	0.0047	0.00279553	0.0056	0.0010	0.0028	0.0002	0.0023	0.0072	0.0069	0.0078	0.0050776	785	154602	rs140222211	0.0055	0.0055	0.0052	0.0058	0.0128	0.0054	0.0053	0.0105	0.0096	0.0013	0.0029	0.0205	0.0001	0.0027	0.0128	0.0054	0.0060	0.0089	0.0041	0.0041	0.0041	0.0042	0.0077	0.0039	0.0037	0.0057	0.0050	0.0007	0.0219	0.0037	0.0202	0.0006	0.0026	0.0136	0.0053	0.0071	0.0077	0.093	0.31532	T	0.034	0.52727	D	0.007	0.14184	B	0.005	0.11217	B	0.180243	0.17122	N	0.498887	0.995655	0.42792	D	0.695	0.17993	N	1.96	0.22270	T	-2.42	0.53096	N	0.193	0.21188	-1.0493	0.14593	T	0.036	0.15465	T	9	0.005491942	0.00121	T	0.004788	0.11973	T	0.058	0.16647	.	.	0.0716867268079	0.06686	0.12543642818145254	0.12469	0.263862433895	0.28942	0.263838291168	0.05356	T	0.033932	0.23116	T	-0.553531	0.00278	T	-0.561205	0.16264	T	0.0225973046598565	0.00976	T	0.622938	0.26859	T	0.055256985	0.10713	0.07319048	0.15878	0.055256985	0.10712	0.07319048	0.15878	-9.619	0.71597	D	.	.	0.073	0.55876	B	.;.	.;.	2.295517	0.29365	18.10	0.99605620748217916	0.74456	0.68140	0.33690	D	AEFDBI	0.080954	0.16375	N	-0.210494210837487	0.32704	1.847188	-0.11038660286288	0.34971	2.018	0.999948513371837	0.47345	0.615465	0.37627	0	0.588066	0.40923	0	0.535252	0.11790	0	0.655142	0.61905	0	.	.	5.56	1.09	0.19517	2.464000	0.44724	0.088000	0.14478	-0.108000	0.15293	0.995000	0.38783	0.000000	0.08366	0.993000	0.69303	0.2886:0.0:0.7114:0.0	9.816	0.40021	865	0.32612	Domain of unknown function DUF4685;Domain of unknown function DUF4685	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011628	0.000000	0.014946	0.008824	0.000000	0.017241	0.015432	0.007576	0.07143	889.45	31	chr1	180928498	.	G	A	889.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.54;DP=262;ExcessHet=0;FS=0.802;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.651;SOR=0.858	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr1	181733553	181733553	C	T	exonic	CACNA1E	.	nonsynonymous SNV	CACNA1E:NM_001205294:exon20:c.C3008T:p.T1003M,CACNA1E:NM_000721:exon21:c.C3065T:p.T1022M,CACNA1E:NM_001205293:exon21:c.C3065T:p.T1022M	.	.	.	.	.	.	.	.	.	.	.	1153373	not_provided|CACNA1E-related_disorder|Developmental_and_epileptic_encephalopathy,_69	MedGen:C3661900|.|MONDO:MONDO:0032657,MedGen:C4748988,OMIM:618285	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.286	.	0.0059	0.00499201	0.0032	0.0163	0.0026	0	0.0117	0.0015	0.0035	0.0004	0.0027231	421	154602	rs74127835	0.0014	0.0014	0.0014	0.0013	0.0183	0.0013	0.0013	0.0171	0.0166	0.0183	0.0017	0.0023	2.522e-05	0.0111	0.0026	0.0004	0.0026	0.0005	0.0060	0.0060	0.0060	0.0060	0.0164	0.0057	0.0055	0.0154	0.0150	0.0164	0	0.0015	0.0032	0.0002	0.0118	0.0034	0.0008	0.0043	0.0004	0.097	0.31987	T	0.176	0.35582	T	0.265	0.48047	B	0.063	0.34351	B	0.001996	0.00848	N	2.914480	1	0.08975	N	0.55	0.14455	N	-3.89	0.96078	D	-1.84	0.44471	N	0.191	0.22098	0.015	0.82550	D	0.493	0.80772	T	10	0.012004048	0.00260	T	.	.	.	0.286	0.60456	.	.	0.392130519673	0.38828	0.2722063094858769	0.27133	1.13581973304	0.78781	0.40963357687	0.26406	T	0.238618	0.60656	T	-0.413898	0.01873	T	-0.353686	0.38782	T	0.00980372103968054	0.00129	T	0.769523	0.39899	T	0.024607198	0.01309	0.040046204	0.04240	0.024598308	0.01307	0.05158579	0.08332	-4.374	0.29202	T	.	.	0.077	0.09868	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.988968	0.13669	10.20	0.93931453795875242	0.23980	0.06677	0.12696	N	AEFDBI	0.084610	0.17149	N	-0.921406538343395	0.10342	0.4937596	-0.951607909724804	0.10885	0.551174	0.00185944341837866	0.08948	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.86	2.99	0.33673	0.013000	0.13206	0.186000	0.15687	-0.173000	0.11020	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5755:0.1586:0.2659	4.716	0.12276	642	0.63909	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.009511	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	861.49	75	chr1	181733553	.	C	T	861.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.468;DP=255;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.896;SOR=0.643	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1220	6	0	1	0
chr1	182385520	182385520	T	G	exonic	GLUL	.	nonsynonymous SNV	GLUL:NM_001033044:exon6:c.A640C:p.M214L,GLUL:NM_001033056:exon6:c.A640C:p.M214L,GLUL:NM_002065:exon7:c.A640C:p.M214L	Glutamine deficiency, congenital, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.572	0.0525278862311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.31532	T	0.305	0.20037	T	0.018	0.17786	B	0.047	0.24832	B	0.000000	0.84330	D	0.037178	1	0.81001	D	2.12	0.58754	M	-1.98	0.85247	D	-1.45	0.35597	N	0.822	0.81857	-0.0439	0.81335	T	0.552	0.83611	D	10	0.59105885	0.66383	D	0.052528	0.65105	D	0.572	0.82629	0.578	0.70347	0.954907343674	0.95443	0.9299415835472273	0.92973	0.831366708963	0.67633	0.646636843681	0.59508	T	0.511304	0.82728	D	0.237617	0.77434	D	0.103544	0.77142	D	0.900239288806915	0.55271	D	0.939106	0.77081	D	0.5239121	0.68483	0.21265063	0.45744	0.5239121	0.68484	0.21265063	0.45743	-5.862	0.45110	T	0.2287642540445813	0.30941	0.336	0.55631	B	.;.;.;.;.	.;.;.;.;.	3.412309	0.47344	22.4	0.97392828754827865	0.33731	0.97100	0.72689	D	AEFBHCI	0.913258	0.87499	D	0.198842284450625	0.51144	3.297976	0.323333280848735	0.56914	3.85556	0.999999950272754	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.44	4.3	0.50540	7.554000	0.81159	4.126000	0.42002	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.079:0.0:0.921	10.582	0.44453	797	0.45241	Glutamine synthetase, catalytic domain|Glutamine synthetase, catalytic domain;Glutamine synthetase, catalytic domain|Glutamine synthetase, catalytic domain;Glutamine synthetase, catalytic domain|Glutamine synthetase, catalytic domain;Glutamine synthetase, catalytic domain|Glutamine synthetase, catalytic domain;Glutamine synthetase, catalytic domain|Glutamine synthetase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	67.22	33	chr1	182385520	.	T	G	67.22	.	AC=2;AF=0.143;AN=14;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=33.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1312	6	1	0	0
chr1	183140465	183140465	G	A	exonic	LAMC1	.	nonsynonymous SNV	LAMC1:NM_002293:exon27:c.G4535A:p.S1512N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.0167955934698	7.7e-05	0.000399361	0.0001	0	0.0006	0	0	0.0001	0	0	0.0001164	18	154602	rs183296150	9.58e-05	9.577e-05	9.532e-05	9.628e-05	0.0003	8.245e-05	7.785e-05	0.0002	0.0002	0	0.0003	0.0009	0	0	0.0003	8.095e-05	0.0002	0	9.858e-05	9.844e-05	7.715e-05	0.0001	0.0006	6.007e-05	4.88e-05	0.0003	0.0002	0	0	0.0006	0.0006	0	0	0	4.412e-05	0.0005	0	0.219	0.19023	T	0.428	0.13792	T	0.0	0.02946	B	0.002	0.06944	B	0.017271	0.27766	N	0.465046	0.887761	0.35885	D	0.975	0.24501	L	-1.21	0.78645	T	-0.7	0.19933	N	0.173	0.18512	-0.9477	0.41364	T	0.146	0.46950	T	10	0.02104652	0.00496	T	0.016796	0.38225	T	0.135	0.36572	.	.	0.472905930708	0.46918	0.43176696170740775	0.43093	0.0806794442068	0.09078	0.488483279943	0.37227	T	0.100596	0.40655	T	-0.407571	0.02063	T	-0.501257	0.22217	T	0.0127350104957643	0.00215	T	0.665033	0.27384	T	0.04686587	0.07914	0.06238948	0.12198	0.04686587	0.07914	0.06238948	0.12198	-2.991	0.10084	T	.	.	0.122	0.25592	B	.	.	1.412010	0.18276	13.65	0.9162189663490039	0.20907	0.78597	0.38801	D	AEFGBI	0.183304	0.31064	N	-0.548842707322533	0.20520	1.082323	-0.403983991095605	0.24880	1.364961	0.999901620843363	0.45458	0.730579	0.87903	0	0.743671	0.97443	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.31	0.225	0.14598	0.340000	0.19634	1.283000	0.25364	0.676000	0.76740	0.974000	0.34632	1.000000	0.68203	0.909000	0.44452	0.3743:0.0:0.6257:0.0	8.749	0.33765	584	0.69381	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	118.55	33	chr1	183140465	.	G	A	118.55	.	AC=2;AF=0.143;AN=14;DP=212;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=23.71;SOR=1.022	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1050	6	1	0	0
chr1	183225694	183225694	G	A	exonic	LAMC2	.	nonsynonymous SNV	LAMC2:NM_005562:exon8:c.G1040A:p.R347H,LAMC2:NM_018891:exon8:c.G1040A:p.R347H	Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	2297526	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.057	0.00723572306207	0.0002	0.000399361	0.0001	0.0011	0.0002	0	0.0002	1.499e-05	0	0	0.0001294	20	154602	rs143483548	7.192e-05	7.388e-05	8.044e-05	6.332e-05	0.0014	6.055e-05	5.602e-05	0.0011	0.0009	0.0014	6.709e-05	0.0002	0	1.873e-05	0.0003	2.522e-05	0.0003	1.16e-05	0.0003	0.0003	0.0004	0.0003	0.0010	0.0003	0.0002	0.0008	0.0007	0.0010	0	0.0003	0.0003	0	0	0	4.412e-05	0	0.0002	0.147	0.26085	T	0.312	0.19599	T	0.0	0.07471	B	0.0	0.06944	B	0.386533	0.13315	N	0.707307	0.964855	0.25963	N	1.055	0.26876	L	1.26	0.36330	T	-2.31	0.51319	N	0.132	0.14622	-1.0215	0.23227	T	0.056	0.23602	T	10	0.03255081	0.01409	T	0.007236	0.19198	T	0.057	0.16321	.	.	0.330069100803	0.32608	0.45451531976631215	0.45369	0.141338820758	0.15935	0.232521057129	0.02160	T	0.153856	0.49488	T	-0.528302	0.00393	T	-0.587994	0.13841	T	0.0230747157129978	0.01032	T	0.757724	0.38135	T	0.044849973	0.07239	0.05125034	0.08211	0.044849973	0.07239	0.05125034	0.08210	-6.105	0.47150	T	0.1916498134020015	0.25154	0.071	0.05800	B	.;.	.;.	2.074689	0.26388	17.10	0.98505140508597511	0.42264	0.48616	0.28247	N	AEFBI	0.143955	0.26679	N	-0.629141959588588	0.18072	0.9353636	-0.499211061031234	0.22176	1.203195	0.999780344384589	0.43007	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.06	2.08	0.26079	0.912000	0.28220	1.905000	0.29608	-0.127000	0.13314	0.589000	0.27658	0.982000	0.30508	0.960000	0.51673	0.2327:0.0:0.6111:0.1562	4.823	0.12766	494	0.76445	.;Laminin IV|Laminin IV|Laminin IV	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	553.63	39	chr1	183225694	.	G	A	553.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.034;DP=214;ExcessHet=0;FS=2.814;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=-0.314;SOR=0.815	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1380	6	0	1	0
chr1	185206757	185206757	C	T	exonic	SWT1	.	nonsynonymous SNV	SWT1:NM_001105518:exon13:c.C1966T:p.R656C,SWT1:NM_017673:exon13:c.C1966T:p.R656C	.	.	.	.	.	.	.	.	.	.	.	2341135	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.028	0.0047451824497	0.0002	0.000199681	0.0003	0.0007	0.0005	0.0001	0	7.707e-05	0.0012	0.0012	0.0002846	44	154602	rs145355483	0.0001	0.0001	8.857e-05	0.0001	0.0010	9.195e-05	8.669e-05	0.0008	0.0007	0.0005	0.0003	0	0.0001	0	0.0004	2.177e-05	0.0002	0.0010	0.0003	0.0003	0.0002	0.0003	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	0	0	0.0002	0	0	2.941e-05	0	0.0006	0.232	0.18184	T	1.0	0.01155	T	0.001	0.07471	B	0.0	0.01387	B	0.094255	0.20182	N	0.581390	1	0.08975	N	-1.725	0.00339	N	2.34	0.16351	T	1.98	0.00416	N	0.058	0.03392	-0.9811	0.34748	T	0.012	0.04416	T	10	0.011425197	0.00250	T	0.004745	0.11816	T	0.028	0.06331	.	.	0.0716867268079	0.06686	0.12666276634247908	0.12592	0.191156484107	0.21440	0.24292704463	0.03060	T	0.004624	0.04028	T	-0.619146	0.00111	T	-0.718484	0.04869	T	0.00616188943567177	0.00068	T	0.458954	0.13262	T	0.055429235	0.10772	0.038324337	0.03675	0.055429235	0.10771	0.038324337	0.03675	1.178	0.00111	T	.	.	0.050	0.00191	B	.;.	.;.	0.439639	0.08096	4.826	0.17381338018492751	0.00504	0.01353	0.04639	N	AEFI	0.023627	0.01344	N	-1.56596780837077	0.01443	0.06296861	-1.44958210837581	0.02774	0.1281959	1.20373508974331E-6	0.01202	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.62	-0.928	0.09916	1.178000	0.31590	1.233000	0.25056	-1.723000	0.00726	0.882000	0.31029	0.017000	0.20586	0.455000	0.28006	0.0:0.2746:0.1262:0.5992	5.904	0.18227	486	0.77016	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	465.27	34	chr1	185206757	.	C	T	465.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.401;DP=195;ExcessHet=0;FS=1.445;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-0.578;SOR=0.358	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	1
chr1	185922482	185922482	T	A	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon7:c.T1004A:p.V335D	.	.	.	.	.	.	.	.	.	.	.	2133747	Age_related_macular_degeneration_1|not_specified|not_provided	MONDO:MONDO:0011285,MedGen:C1864205,OMIM:603075|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.126	0.0267798649146	.	.	2.003e-05	0	0.0001	0	0	0	0	6.824e-05	1.29e-05	2	154602	rs138572318	1.095e-05	1.094e-05	9.534e-06	1.238e-05	0.0002	6.48e-06	5.25e-06	9.758e-05	6.956e-05	0.0002	4.479e-05	0	0	0	0	0	9.939e-05	1.161e-05	1.315e-05	1.313e-05	0	2.691e-05	4.827e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	0	0	0	0.028	0.46129	D	0.019	0.59159	D	0.201	0.29693	B	0.034	0.22546	B	0.004927	0.33255	N	0.321529	0.98514	0.40242	D	0	0.06538	N	0.03	0.62183	T	-2.04	0.46842	N	0.556	0.58117	-1.0868	0.06084	T	0.086	0.33578	T	10	0.22020298	0.38710	T	0.02678	0.49657	D	0.126	0.34673	.	.	0.559961094632	0.55658	0.5822849330037796	0.58157	0.479184190851	0.46961	0.398599088192	0.24873	T	.	.	.	-0.179233	0.23849	T	-0.319386	0.42642	T	0.175730042426554	0.18962	T	0.880312	0.59828	D	0.409432	0.61380	0.33321977	0.59162	0.409432	0.61380	0.33321977	0.59161	-3.755	0.20134	T	.	.	0.124	0.25946	B	.	.	2.384432	0.30609	18.49	0.9763681464064019	0.35057	0.93741	0.59059	D	AEFI	0.513866	0.54148	D	-0.510430166677664	0.21742	1.15607	-0.353935941962926	0.26387	1.457193	0.206654256384164	0.18189	0.615465	0.37627	0	0.573888	0.26702	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.35	0.501	0.16130	1.817000	0.38640	0.991000	0.23192	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.6348:0.0:0.3652	9.400	0.37591	516	0.74704	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	525.44	37	chr1	185922482	.	T	A	525.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.516;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=-0.674;SOR=0.859	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1075	6	0	1	0
chr1	185990420	185990420	G	T	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon22:c.G3354T:p.Q1118H	.	.	.	.	.	.	.	.	.	.	.	1352655	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.086	0.034208695151	0.0002	0.000199681	0.0001	0.0002	8.661e-05	0	0	0.0001	0	6.064e-05	9.7e-05	15	154602	rs141081235	4.173e-05	4.173e-05	4.084e-05	4.263e-05	0.0008	3.311e-05	3.001e-05	0.0006	0.0005	0.0008	4.472e-05	0	0	0	0	1.619e-05	0.0002	1.159e-05	0.0001	0.0001	8.996e-05	0.0001	0.0004	7.088e-05	5.745e-05	0.0003	0.0002	0.0004	0	0	0	0	0	0	0	0	0	0.027	0.46513	D	0.105	0.38016	T	0.82	0.45712	P	0.699	0.54128	P	0.000000	0.84330	D	0.053623	0.999453	0.47118	D	1.285	0.32305	L	-0.37	0.68892	T	-1.12	0.28906	N	0.398	0.43899	-0.7086	0.60021	T	0.204	0.56114	T	10	0.17706579	0.32722	T	0.034209	0.55518	D	0.086	0.25016	0.504	0.59770	0.731689507483	0.72930	0.6527997766228042	0.65215	0.446448507405	0.44516	0.55565404892	0.46654	T	.	.	.	-0.268554	0.11918	T	-0.344101	0.39880	T	0.0869511216878891	0.10852	T	0.790821	0.43180	T	0.16112903	0.36102	0.14937745	0.35272	0.16112903	0.36101	0.14937745	0.35271	-5.052	0.37399	T	.	.	0.210	0.43828	B	.	.	2.339250	0.29972	18.29	0.99719040457567776	0.81914	0.89279	0.49648	D	AEFGI	0.291298	0.40246	N	-0.0211301501278655	0.40900	2.436953	0.0278478436853132	0.41013	2.456937	6.02708284464162E-4	0.07437	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.79	1.32	0.20897	0.908000	0.28167	-0.250000	0.10515	0.676000	0.76740	1.000000	0.71638	0.008000	0.19753	0.998000	0.85391	0.3209:0.0:0.6791:0.0	11.131	0.47570	408	0.82256	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	400.83	30	chr1	185990420	.	G	T	400.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.081;DP=200;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=1.15;SOR=0.61	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1100	6	0	1	0
chr1	186007199	186007199	G	A	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon30:c.G4547A:p.R1516Q	.	.	.	.	.	.	.	.	.	.	.	3077744	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.210	0.0491735708116	.	.	0.0001	0	0.0002	0.0015	0	2.999e-05	0	0	0.00011	17	154602	rs751511835	4.244e-05	4.31e-05	4.631e-05	3.852e-05	0.0006	3.378e-05	3.066e-05	0.0004	0.0004	2.989e-05	0.0002	0	0.0006	1.872e-05	0	1.53e-05	9.94e-05	5.798e-05	7.891e-05	7.881e-05	3.857e-05	0.0001	0.0012	4.5e-05	3.515e-05	0.0005	0.0003	9.657e-05	0	0	0	0.0012	0	0	2.941e-05	0	0	0.324	0.13392	T	0.005	0.72224	D	0.999	0.77913	D	0.99	0.78936	D	0.000001	0.84330	D	0.055755	0.999999	0.58761	D	0.01	0.07948	N	-0.15	0.65192	T	-1.49	0.36385	N	0.68	0.68690	-0.8090	0.54611	T	0.266	0.63695	T	10	0.26088798	0.43542	T	0.049174	0.63698	D	0.210	0.50028	0.427	0.47350	0.820976921018	0.81928	0.638999643963675	0.63833	0.488082802852	0.47620	0.353346645832	0.18414	T	.	.	.	-0.332176	0.05948	T	-0.295476	0.45200	T	0.484624892473221	0.32067	T	0.882612	0.60317	D	0.2358766	0.46430	0.17832144	0.40493	0.2358766	0.46430	0.17832144	0.40493	-1.628	0.02048	T	.	.	0.088	0.11461	B	.	.	4.439852	0.68930	25.3	0.99953465610547543	0.99957	0.98559	0.84088	D	AEFI	0.894647	0.83384	D	0.570212585134092	0.71320	5.633155	0.625717882828513	0.76812	6.561	0.999997875884548	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.76	4.84	0.62125	7.455000	0.79783	8.668000	0.77998	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.07:0.0:0.93:0.0	14.584	0.67906	407	0.82314	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	394.63	47	chr1	186007199	.	G	A	394.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.14;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.4;ReadPosRankSum=0.756;SOR=0.839	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1090	6	0	1	0
chr1	186061865	186061865	C	T	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon47:c.C7327T:p.R2443W	.	.	.	.	.	.	.	.	.	.	.	279062	Age_related_macular_degeneration_1|not_specified|not_provided	MONDO:MONDO:0011285,MedGen:C1864205,OMIM:603075|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.312	0.0390784659256	7.7e-05	0.000399361	5.803e-05	0	0	0	0	4.517e-05	0	0.0002	8.41e-05	13	154602	rs376132541	0.0001	0.0001	0.0001	0.0001	0.0001	9.289e-05	8.752e-05	0.0001	0.0001	0	2.239e-05	0	0	1.875e-05	0	0.0001	4.981e-05	4.644e-05	7.226e-05	7.219e-05	0.0001	4.032e-05	0.0004	3.97e-05	3.127e-05	7.296e-05	3.339e-05	4.814e-05	0	0	0	0	0	0	0.0001	0	0.0004	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.975	0.53506	M	1.25	0.36512	T	-5.16	0.83422	D	0.835	0.83066	-0.8372	0.52832	T	0.199	0.55485	T	10	0.74958885	0.75538	D	0.039078	0.58599	D	0.312	0.63375	.	.	0.711129350553	0.70860	0.7469365163298441	0.74639	0.46716595594	0.46101	0.544728696346	0.45114	T	.	.	.	-0.0441591	0.45330	T	-0.0645394	0.66013	T	0.838781476020813	0.49228	D	0.938506	0.76886	D	0.6898728	0.77504	0.66459495	0.80337	0.6898728	0.77506	0.66459495	0.80338	-8.544	0.64720	D	.	.	0.129	0.27613	B	.	.	3.955448	0.57980	23.9	0.99915206761381592	0.98379	0.97008	0.72158	D	AEFI	0.705014	0.66054	D	0.535462196352206	0.69203	5.323665	0.463527250697063	0.65590	4.843044	0.994352093039195	0.33600	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.39	4.42	0.52775	4.512000	0.60187	1.358000	0.25859	0.549000	0.26987	1.000000	0.71638	0.890000	0.27818	0.883000	0.42306	0.1471:0.8529:0.0:0.0	14.533	0.67527	402	0.82617	Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	240.44	24	chr1	186061865	.	C	T	240.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.251;DP=186;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-1.25;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1033	6	0	1	0
chr1	186086300	186086300	A	C	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon58:c.A8939C:p.N2980T	.	424	1093	5	0	0	5	0.00228206	.	.	.	277974	not_provided|Age_related_macular_degeneration_1	MedGen:C3661900|MONDO:MONDO:0011285,MedGen:C1864205,OMIM:603075	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.063	0.0215151167359	0.0002	0.000399361	0.0005	0	8.738e-05	0	0	0.0006	0.0011	0.0012	0.0004786	74	154602	rs150226500	0.0006	0.0006	0.0005	0.0007	0.0052	0.0006	0.0005	0.0037	0.0033	0.0004	0.0003	0.0017	0	1.873e-05	0.0052	0.0006	0.0008	0.0012	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0005	0.0005	0.0001	0	0.0006	0.0014	0	0	0.0068	0.0007	0.0014	0.0008	0.339	0.12754	T	0.004	0.74150	D	0.216	0.30161	B	0.111	0.31539	B	0.000007	0.62929	D	0.170420	0.992104	0.41556	D	1.07	0.27075	L	1.57	0.29342	T	-1.84	0.43149	N	0.527	0.55626	-1.0624	0.11166	T	0.035	0.14987	T	10	0.030536562	0.01181	T	0.021515	0.44299	T	0.063	0.18251	.	.	0.423954403188	0.42011	0.3888674076052411	0.38801	0.110052123789	0.12417	0.424490302801	0.28455	T	.	.	.	-0.549597	0.00293	T	-0.607786	0.12165	T	0.0225958708324112	0.00976	T	0.742826	0.36203	T	0.11005176	0.26015	0.11134614	0.26859	0.11005176	0.26015	0.11134614	0.26858	-6.299	0.48714	T	.	.	0.211	0.43882	B	.	.	2.055297	0.26134	17.01	0.96909664493093983	0.31573	0.96378	0.68846	D	AEBI	0.657838	0.62932	D	-0.502294225831082	0.22006	1.171992	-0.306816040386672	0.27878	1.550106	0.0415693851513424	0.14489	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.59	3.28	0.36691	4.956000	0.63350	4.713000	0.44466	-0.051000	0.17024	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.8632:0.0:0.1368:0.0	10.096	0.41646	439	0.80177	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.007553	0.010101	0.009511	0.005848	0.000000	0.017241	0.000000	0.007576	0.07143	187.49	27	chr1	186086300	.	A	C	187.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.46;DP=194;ExcessHet=0;FS=1.697;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.5;ReadPosRankSum=1.22;SOR=1.402	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr1	186187987	186187987	T	C	exonic	HMCN1	.	nonsynonymous SNV	HMCN1:NM_031935:exon106:c.T16519C:p.Y5507H	.	.	.	.	.	.	.	.	.	.	.	2016482	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.931	0.113573423808	.	.	8.241e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs775142563	5.474e-06	5.472e-06	4.085e-06	6.877e-06	4.474e-05	2.36e-06	1.7e-06	7.42e-06	2.77e-06	0	4.474e-05	0	0	0	0	5.397e-06	0	0	1.972e-05	1.97e-05	1.285e-05	2.691e-05	0.0001	5.24e-06	2.45e-06	2.263e-05	9.08e-06	2.412e-05	0	0.0001	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.645	0.77386	M	-2.63	0.90083	D	-4.09	0.82063	D	0.725	0.72656	0.950	0.96393	D	0.861	0.95356	D	10	0.94705117	0.94032	D	0.113573	0.79213	D	0.931	0.98378	0.811	0.92719	0.879703561635	0.87853	0.734861701494485	0.73431	0.507776280329	0.48956	0.729985952377	0.71504	T	0.178025	0.52853	T	0.393063	0.89508	D	0.409697	0.92423	D	0.991478383541107	0.81774	D	0.869813	0.61653	D	0.80005485	0.83908	0.7584826	0.85729	0.80005485	0.83910	0.7584826	0.85730	-8.625	0.65254	D	.	.	0.598	0.78641	P	.;.	.;.	3.830207	0.55357	23.6	0.99749113406752321	0.84152	0.92559	0.55996	D	AEFDGBCIJ	0.926105	0.90668	D	0.833701771542533	0.88160	9.475725	0.779629713546459	0.88341	9.546684	0.999999999999999	0.74766	0.661447	0.50134	0	0.48864	0.07623	0	0.644132	0.48003	0	0.654926	0.60358	0	.	.	5.71	5.71	0.89031	7.969000	0.87564	7.896000	0.73301	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.730000	0.35099	0.0:0.0:0.0:1.0	16.004	0.80145	666	0.61362	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	847.44	34	chr1	186187987	.	T	C	847.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.23;DP=268;ExcessHet=0;FS=4.281;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=1.3;SOR=1.251	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1335	6	0	1	0
chr1	186301654	186301654	G	A	exonic	PRG4	.	nonsynonymous SNV	PRG4:NM_001127708:exon3:c.G139A:p.A47T,PRG4:NM_001127710:exon3:c.G139A:p.A47T,PRG4:NM_001127709:exon4:c.G262A:p.A88T,PRG4:NM_001303232:exon4:c.G262A:p.A88T,PRG4:NM_005807:exon4:c.G262A:p.A88T	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0136168470131	.	.	7.415e-05	0	8.654e-05	0	0	1.498e-05	0	0.0004	5.82e-05	9	154602	rs369769286	3.9e-05	3.967e-05	3.268e-05	4.538e-05	0.0003	3.048e-05	2.783e-05	0.0002	0.0002	0.0003	2.236e-05	0	2.519e-05	0	0.0003	9.894e-06	0.0001	0.0003	1.316e-05	1.97e-05	1.286e-05	1.347e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0	0.0002	0.299	0.45756	T	0.174	0.41913	T	0.919	0.50927	P	0.202	0.36942	B	0.435940	0.04732	N	1.458610	1	0.08975	N	1.205	0.30389	L	0.95	0.43279	T	-1.89	0.44094	N	0.233	0.31253	-1.0466	0.15361	T	0.056	0.23753	T	10	0.05454105	0.05823	T	0.013617	0.33161	T	0.087	0.25287	0.186	0.09517	0.104622674875	0.10061	0.32078947247380907	0.31991	0.0860791266611	0.09724	0.281373649836	0.07684	T	0.023984	0.34066	T	-0.533179	0.00368	T	-0.687495	0.06535	T	0.0744477678979147	0.09262	T	0.049495	0.21745	T	0.016110234	0.00176	0.036907043	0.03233	0.016110234	0.00176	0.036907043	0.03232	-5.244	0.40987	T	.	.	0.152	0.44082	B	.;.;.;.;.;.	.;.;.;.;.;.	0.942165	0.13179	9.680	0.6192354401547514	0.06831	0.03862	0.09223	N	AEFDBI	0.148630	0.27256	N	-1.18980420115225	0.05153	0.2342593	-1.40246452942456	0.03227	0.1501136	0.999930535626016	0.46732	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.62	-11.2	0.00099	-0.944000	0.04022	-1.894000	0.04538	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.120000	0.19168	0.0548:0.1984:0.1268:0.62	7.906	0.28925	259	0.89842	Somatomedin B domain|Somatomedin B, chordata|Somatomedin B domain|Somatomedin B domain|Somatomedin B domain;Somatomedin B domain|Somatomedin B, chordata|Somatomedin B domain|Somatomedin B domain|Somatomedin B domain;Somatomedin B domain|Somatomedin B, chordata|Somatomedin B domain|Somatomedin B domain|Somatomedin B domain;Somatomedin B domain|Somatomedin B, chordata|Somatomedin B domain|Somatomedin B domain|Somatomedin B domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	261.44	46	chr1	186301654	.	G	A	261.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.573;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.68;ReadPosRankSum=0.645;SOR=0.582	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1135	6	0	1	0
chr1	186676889	186676889	T	C	exonic	PTGS2	.	nonsynonymous SNV	PTGS2:NM_000963:exon6:c.A667G:p.T223A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00756017199274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.33091	T	0.075	0.42794	T	0.043	0.21573	B	0.03	0.21741	B	0.001035	0.40562	N	0.294107	0.617849	0.32678	D	2.75	0.80375	M	2.2	0.18570	T	-2.44	0.53420	N	0.128	0.12198	-0.9610	0.38993	T	0.078	0.30982	T	10	0.25429118	0.42807	T	0.00756	0.20060	T	0.089	0.25827	0.403	0.43408	0.630427430629	0.62740	0.475510225778038	0.47470	0.643019289568	0.57855	0.328764468431	0.14747	T	0.63286	0.88643	D	-0.155349	0.27479	T	-0.460924	0.26497	T	0.820370733737946	0.47800	D	0.954105	0.82551	D	0.22272857	0.44879	0.18982522	0.42350	0.22272857	0.44879	0.18982522	0.42349	-7.846	0.60016	D	.	.	0.164	0.36275	B	.	.	3.089235	0.41587	21.4	0.98611104408691308	0.43638	0.92232	0.55241	D	AEFBCI	0.382354	0.46427	N	0.0121921679277485	0.42410	2.554697	0.106862571276269	0.44898	2.762805	0.999720376767586	0.42220	0.722319	0.85440	0	0.573888	0.26702	0	0.618467	0.43123	0	0.735409	0.98432	0	.	.	5.51	4.38	0.52019	2.029000	0.40718	5.452000	0.48648	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.1417:0.0:0.0:0.8583	11.518	0.49783	536	0.73233	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	11	chr1	186676889	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=130;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,1215	6	1	0	0
chr1	193075828	193075828	A	G	exonic	RO60	.	nonsynonymous SNV	RO60:NM_001042369:exon3:c.A589G:p.I197V,RO60:NM_001042370:exon3:c.A589G:p.I197V,RO60:NM_001173524:exon3:c.A589G:p.I197V,RO60:NM_001173525:exon3:c.A589G:p.I197V,RO60:NM_004600:exon3:c.A589G:p.I197V	.	432	1082	8	0	0	8	0.00368324	.	.	.	2758848	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.015	0.00398259057835	0.0004	0.000199681	0.0002	0.0001	8.744e-05	0.0003	0	0.0002	0	0.0001	0.0001358	21	154602	rs200525528	0.0001	0.0001	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0	4.766e-05	0	0.0002	1.878e-05	0.0004	0.0002	0.0002	0.0001	0.0001	0.0001	0.0002	0.0001	0.0004	9.74e-05	8.255e-05	9.051e-05	7.015e-05	0.0001	0	0.0002	0	0	0	0	0.0002	0	0.0004	0.398	0.91255	T	0.453	0.15650	T	0.0	0.02946	B	0.0	0.01387	B	0.006185	0.32207	N	0.356558	1	0.81001	D	0.49	0.13296	N	2.57	0.13552	T	0.06	0.10833	N	0.124	0.12913	-0.9972	0.30701	T	0.017	0.07092	T	10	0.021449089	0.00513	T	0.003983	0.09431	T	0.015	0.02232	.	.	0.143124449307	0.13826	0.07912533439858711	0.07847	0.116420580842	0.13130	0.31076964736	0.12023	T	0.076413	0.35411	T	-0.462164	0.00953	T	-0.569579	0.15488	T	0.0182165447622538	0.00542	T	0.752425	0.37950	T	0.013319344	0.00055	0.024440479	0.00464	0.013319344	0.00055	0.024440479	0.00464	-3.207	0.14193	T	.	.	0.053	0.06710	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.195518	0.15871	12.16	0.77813698264211828	0.12033	0.25768	0.22797	N	AEFBI	0.094360	0.19079	N	-0.888513881011583	0.11116	0.5346699	-0.780562743261856	0.14971	0.7850816	0.999427491371472	0.39630	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.77	-0.903	0.09999	0.057000	0.14157	-0.101000	0.11941	-0.065000	0.16512	0.020000	0.19661	0.000000	0.08366	0.997000	0.79791	0.6271:0.1154:0.2575:0.0	6.556	0.21658	324	0.86790	TROVE domain|TROVE domain;.;TROVE domain|TROVE domain;.;.;.;TROVE domain|TROVE domain;TROVE domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.1429	421.69	5	chr1	193075828	.	A	G	421.69	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.65;DP=68;ExcessHet=0.3476;FS=4.374;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=16.22;ReadPosRankSum=0.524;SOR=1.916	GT:AD:DP:GQ:PL	0/0:7,0:7:21:0,21,250	5	0	2	0
chr1	196745966	196745966	A	G	exonic	CFH	.	nonsynonymous SNV	CFH:NM_000186:exon21:c.A3460G:p.N1154D	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0468563940927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.35349	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999992	0.08975	N	.	.	.	-0.09	0.64086	T	-4.19	0.75615	D	0.225	0.25253	-0.9980	0.30479	T	0.141	0.46128	T	9	0.40126646	0.55584	T	0.046856	0.62653	D	0.142	0.37995	0.718	0.85319	0.883643174789	0.88250	0.8738693464291831	0.87352	2.10248083902	0.94861	0.441660583019	0.30804	T	.	.	.	-0.110221	0.34730	T	-0.396102	0.33837	T	0.489118246152688	0.32232	T	0.666133	0.27528	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	1.299189	0.17006	12.90	0.993687937241446	0.61326	0.06424	0.12429	N	AEFGI	0.527457	0.54939	D	-0.723644635361548	0.15358	0.7733086	-0.759120574233883	0.15498	0.815391	4.83533103475109E-5	0.03989	0.693126	0.56070	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.97	1.26	0.20534	0.056000	0.14136	0.079000	0.14366	0.748000	0.86766	0.001000	0.13787	0.000000	0.08366	0.985000	0.61073	0.6781:0.0:0.1701:0.1518	4.041	0.09234	534	0.73357	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	3900.44	34	chr1	196745966	.	A	G	3900.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.261;DP=551;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=52.21;MQRankSum=-0.846;QD=11.11;ReadPosRankSum=-0.563;SOR=0.691	GT:AD:DP:GQ:PL	0/1:187,164:351:99:3911,0,4849	6	0	1	0
chr1	196950923	196950923	A	G	exonic	CFHR2	.	nonsynonymous SNV	CFHR2:NM_005666:exon3:c.A325G:p.T109A	.	14	1507	1	0	0	1	0.000331675	.	.	.	718475	not_provided|Kidney_disorder	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.152	.	0.0053	0.00319489	0.0059	0.0015	0.0020	0	0.0132	0.0083	0.0055	0.0020	0.0057179	884	154602	rs145405649	0.0070	0.0070	0.0070	0.0069	0.0079	0.0069	0.0068	0.0077	0.0077	0.0011	0.0028	0.0040	0	0.0126	0.0005	0.0079	0.0063	0.0016	0.0056	0.0056	0.0054	0.0057	0.0083	0.0053	0.0051	0.0078	0.0075	0.0011	0	0.0060	0.0037	0	0.0104	0	0.0083	0.0043	0.0023	0.082	0.33254	T	0.292	0.20877	T	0.992	0.64738	D	0.887	0.62952	P	0.602829	0.10941	N	0.739627	1	0.08975	N	2.125	0.59049	M	-0.18	0.65747	T	-1.37	0.33998	N	0.047	0.08786	-0.8608	0.51205	T	0.212	0.57201	T	10	0.013218045	0.00281	T	.	.	.	0.152	0.39956	.	.	0.540107908424	0.53663	0.24254632431397596	0.24168	0.0260599837841	0.02663	0.307044804096	0.11460	T	0.007104	0.18336	T	-0.589152	0.00170	T	-0.611518	0.11863	T	0.0175501946756762	0.00489	T	0.441756	0.12777	T	0.05150302	0.09466	0.038709678	0.03798	0.05150302	0.09466	0.038709678	0.03798	-6.759	0.52253	T	.	.	0.096	0.17742	B	.;.;.;.;.	.;.;.;.;.	0.764500	0.11341	7.961	0.94384830372468398	0.24761	0.00638	0.02794	N	AEFBI	0.201121	0.32780	N	-0.697818587383109	0.16084	0.81634	-0.980466073493892	0.10225	0.51359	2.01612459352381E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.77	-1.19	0.09091	-0.161000	0.10014	-2.524000	0.03650	-0.236000	0.07595	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4392:0.0:0.3141:0.2467	2.088	0.03430	329	0.86514	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001020	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1239.44	33	chr1	196950923	.	A	G	1239.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.79;DP=320;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.01;MQRankSum=-0.371;QD=8.92;ReadPosRankSum=1.13;SOR=0.68	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	6	0	1	0
chr1	196959027	196959027	C	T	exonic	CFHR2	.	stopgain	CFHR2:NM_001312672:exon3:c.C388T:p.R130X,CFHR2:NM_005666:exon5:c.C760T:p.R254X	.	436	1076	9	1	0	11	0.00508553	.	.	.	731966	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0002	0.000199681	0.0008	0.0002	0.0012	0.0012	0	0.0009	0.0022	6.091e-05	0.0006986	108	154602	rs41313888	0.0006	0.0006	0.0005	0.0006	0.0075	0.0005	0.0005	0.0057	0.0051	0.0005	0.0013	0.0058	0.0005	0	0.0075	0.0004	0.0011	8.132e-05	0.0006	0.0006	0.0007	0.0006	0.0020	0.0005	0.0005	0.0015	0.0013	0.0003	0	0.0020	0.0029	0.0002	0	0.0068	0.0005	0.0033	0	.	.	.	.	.	.	.	.	.	.	.	.	0.186673	0.16957	N	0.329287	0.999367	0.46798	D	.	.	.	.	.	.	.	.	.	0.1	0.08227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399508	0.52205	T	0.192429	0.82707	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant;.;.;.;.	High;High;.;.;.;.	6.333531	0.95033	34	0.71930951763337325	0.09797	0.00991	0.03763	N	AEFI	0.106710	0.21282	N	-0.418099539914448	0.24835	1.344	-0.830307543108602	0.13762	0.7156698	7.12562145627768E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.52	-3.3	0.04692	0.190000	0.16864	-3.605000	0.02663	0.304000	0.19002	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.5086:0.2577:0.0:0.2337	3.518	0.07289	322	0.86904	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	335.27	39	chr1	196959027	.	C	T	335.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.579;DP=198;ExcessHet=0;FS=2.774;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=-0.733;SOR=0.346	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,993	5	0	1	1
chr1	197090947	197090947	T	G	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_001206846:exon22:c.A4784C:p.Q1595P,ASPM:NM_018136:exon23:c.A9539C:p.Q3180P	Microcephaly 5, primary, autosomal recessive, Autosomal recessive	1	1509	11	1	0	13	0.00428901	.	.	.	34480	Microcephaly_5,_primary,_autosomal_recessive|not_provided|not_specified	MONDO:MONDO:0012106,MedGen:C1837501,OMIM:608716,Orphanet:2512|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.282	.	7.7e-05	0.0113818	0.0050	0	0.0005	0	0	1.502e-05	0.0011	0.0365	0.0044501	688	154602	rs193251130	0.0023	0.0023	0.0013	0.0033	0.0359	0.0022	0.0022	0.0348	0.0344	0.0001	0.0004	3.829e-05	0.0001	0	0.0017	5.218e-05	0.0024	0.0359	0.0013	0.0013	0.0007	0.0019	0.0377	0.0011	0.0011	0.0333	0.0315	0.0001	0	0.0001	0	0	0	0	7.353e-05	0.0009	0.0377	0.065	0.50132	T	0.032	0.72224	D	0.989	0.62824	D	0.885	0.62825	P	0.013255	0.28902	N	0.266702	1.20995e-10	0.08975	A	2.52	0.73523	M	0.26	0.59314	T	-2.98	0.71276	D	0.494	0.57263	-0.4301	0.71064	T	0.288	0.65958	T	9	0.032000035	0.01343	T	.	.	.	0.282	0.59981	.	.	0.477917065107	0.47419	0.366185907918656	0.36532	.	.	0.23918569088	0.02718	T	0.413237	0.76716	T	-0.184656	0.23047	T	-0.0108623	0.69627	D	0.0414177480070669	0.03949	T	0.792521	0.45757	T	0.3373604	0.56069	0.37748984	0.62848	0.34863216	0.56960	0.4231333	0.66193	-8.767	0.66185	D	.	.	0.241	0.47513	B	.;.;.	.;.;.	2.732123	0.35768	19.98	0.99407790188364209	0.63122	0.34432	0.25066	N	AEFBI	0.323304	0.42553	N	-0.180647961897867	0.33940	1.931432	-0.352870896266355	0.26421	1.459215	0.00454900683188445	0.10609	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.93	2.61	0.30255	0.150000	0.16082	-2.409000	0.03790	0.609000	0.47794	0.003000	0.16062	0.000000	0.08366	0.954000	0.50415	0.0:0.2438:0.0:0.7562	8.105	0.30042	184	0.92813	IQ motif, EF-hand binding site;.;IQ motif, EF-hand binding site	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.022727	0.07143	746.44	36	chr1	197090947	.	T	G	746.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.342;DP=305;ExcessHet=0;FS=0.722;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.43;ReadPosRankSum=0.76;SOR=0.603	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr1	197104066	197104066	G	A	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_018136:exon18:c.C5185T:p.R1729W	Microcephaly 5, primary, autosomal recessive, Autosomal recessive	4	1426	86	6	0	98	0.0332203	.	.	.	101785	ASPM-related_disorder|not_provided|not_specified|Microcephaly_5,_primary,_autosomal_recessive	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012106,MedGen:C1837501,OMIM:608716,Orphanet:2512	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.279	.	0.0094	0.00539137	0.0096	0.0018	0.0087	0.0006	0.0018	0.0124	0.0177	0.0113	0.0092366	1428	154602	rs41299623	0.0098	0.0098	0.0095	0.0101	0.0224	0.0097	0.0096	0.0192	0.0181	0.0013	0.0109	0.0190	0.0005	0.0027	0.0224	0.0102	0.0102	0.0125	0.0083	0.0083	0.0084	0.0082	0.0148	0.0079	0.0077	0.0132	0.0126	0.0016	0.0022	0.0148	0.0165	0.0002	0.0024	0.0204	0.0117	0.0171	0.0091	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.978	0.74104	D	0.039326	0.24182	N	0.428411	1	0.81001	D	3.72	0.94773	H	1.53	0.30401	T	-3.96	0.73579	D	0.393	0.43417	-0.5736	0.65871	T	0.193	0.54652	T	10	0.004125327	0.00081	T	.	.	.	0.279	0.59619	.	.	0.3349148499	0.33108	0.08892445824681566	0.08825	.	.	0.236045047641	0.02445	T	0.339384	0.70854	T	-0.425924	0.01569	T	-0.37291	0.36548	T	0.0830932680580513	0.10378	T	0.905509	0.66687	D	0.4028834	0.60932	0.50360066	0.71306	0.4028834	0.60932	0.50360066	0.71306	-8.839	0.66655	D	0.566896680356971	0.63430	0.140	0.30608	B	.	.	4.136525	0.61946	24.4	0.99919287988164351	0.98654	0.85522	0.44663	D	AEFBCI	0.422085	0.48823	N	0.632367860663397	0.75231	6.269803	0.526582881682223	0.69785	5.410109	0.991712705357451	0.32584	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.98	5.98	0.97147	2.847000	0.47970	1.577000	0.27452	0.618000	0.50648	0.647000	0.28146	0.003000	0.18671	0.988000	0.63387	0.0:0.0:0.858:0.142	16.062	0.80647	177	0.93145	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.021148	0.010101	0.020380	0.014620	0.100000	0.051724	0.033537	0.015152	0.07143	1144.44	38	chr1	197104066	.	G	A	1144.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.679;DP=323;ExcessHet=0;FS=2.936;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=0.156;SOR=0.659	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	6	0	1	0
chr1	201209798	201209798	-	GCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA	exonic	IGFN1	.	nonframeshift insertion	IGFN1:NM_001164586:exon12:c.4905_4906insGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA:p.G1647_I1648insMGSGSKASFRDGLGGSGEMGSVNEAGYRKDLGAPKG	.	682	662	104	2	72	180	0.075419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0	0	0	0	0.0021	0	0	.	.	.	.	0.0018	0.0016	0.0018	0.0018	0.0119	0.0017	0.0016	0.0084	0.0073	0.0119	0.0021	0.0016	0.0109	0.0043	0	0.0013	0.0023	0.0021	0.0006	0.0094	0.0010	0.0002	0.0037	0.0003	0.0002	0.0001	7.467e-05	0.0004	0	0.0007	0	0.0037	0.0015	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8971.27	183	chr1	201209798	.	G	GGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA	8971.27	.	AC=2;AF=0.5;AN=4;BaseQRankSum=1.38;DP=1569;ExcessHet=0;FS=1.947;MLEAC=3;MLEAF=0.75;MQ=51.25;MQRankSum=-9.053;QD=26.16;ReadPosRankSum=-9.008;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:94,227:321:99:.:.:8981,430,0:.	1	1	0	5
chr1	201209798	201209798	G	0	exonic	IGFN1	.	.	.	.	682	662	104	2	72	180	0.075419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	8971.27	183	chr1	201209798	.	G	*	8971.27	.	AC=1;AF=0.25;AN=4;BaseQRankSum=1.38;DP=1569;ExcessHet=0;FS=1.947;MLEAC=2;MLEAF=0.5;MQ=51.25;MQRankSum=-9.053;QD=26.16;ReadPosRankSum=-9.008;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:94,0:321:99:.:.:8981,9085,9336:.	1	0	1	5
chr1	201216520	201216520	G	C	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon16:c.G9362C:p.R3121P,IGFN1:NM_001367841:exon17:c.G1991C:p.R664P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.153402400799	.	.	6.272e-05	0	0	0	0	0	0	0.0005	4.53e-05	7	154602	rs761437522	2.333e-05	2.326e-05	5.457e-06	4.142e-05	0.0003	1.679e-05	1.482e-05	0.0003	0.0002	0	0	0	0	0	0.0002	9.015e-07	3.325e-05	0.0003	1.314e-05	1.313e-05	0	2.69e-05	0.0004	2.18e-06	8.2e-07	7.282e-05	3.026e-05	0	0	0	0	0	0	0	0	0	0.0004	0.004	0.65419	D	0.006	0.70582	D	.	.	.	.	.	.	0.018612	0.27444	N	0.335977	0.999916	0.19599	N	2.16	0.60381	M	0.32	0.58468	T	-3.08	0.63323	D	0.392	0.43320	-0.7730	0.56692	T	0.281	0.65329	T	10	0.5460235	0.63988	D	0.153402	0.83467	D	0.304	0.62510	0.679	0.81691	0.533614126537	0.53011	0.7073640992381506	0.70678	.	.	0.239515602589	0.02747	T	0.042746	0.26280	T	-0.179842	0.23758	T	-0.203958	0.54271	T	0.505417316505681	0.32828	D	0.564644	0.19916	T	0.71787167	0.79043	0.6992201	0.82281	0.71787167	0.79045	0.6992201	0.82282	-12.688	0.88037	D	.	.	0.939	0.85786	P	.;.	.;.	0.666567	0.10352	7.078	0.991316593504872	0.53275	0.11409	0.16615	N	AEFDGBI	0.342298	0.43850	N	0.00711342846805874	0.42179	2.536493	-0.184838440179113	0.32092	1.822479	0.00897090803998913	0.11772	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.06	0.809	0.17866	-0.419000	0.07136	-3.291000	0.02902	-0.136000	0.12710	0.000000	0.06391	0.000000	0.08366	0.283000	0.24091	0.2838:0.3581:0.3581:0.0	3.887	0.08606	917	0.20147	.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1395.49	34	chr1	201216520	.	G	C	1395.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.357;DP=282;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.387;SOR=0.663	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1067	6	0	1	0
chr1	201387170	201387170	C	T	exonic	LAD1	.	nonsynonymous SNV	LAD1:NM_005558:exon3:c.G191A:p.S64N	.	416	1094	12	0	0	12	0.00545455	.	.	.	696381	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.126	0.010655477065	0.0011	0.00199681	0.0019	0	0.0013	0	0.0002	0.0024	0.0013	0.0042	0.0018111	280	154602	rs143280381	0.0013	0.0013	0.0012	0.0014	0.0095	0.0012	0.0012	0.0074	0.0066	0.0002	0.0016	0.0135	0	0.0002	0.0095	0.0009	0.0022	0.0030	0.0012	0.0012	0.0012	0.0013	0.0033	0.0011	0.0010	0.0021	0.0017	0.0002	0	0.0005	0.0153	0	0.0002	0	0.0015	0.0009	0.0033	0.0	0.91255	D	0.031	0.70582	D	0.999	0.77913	D	0.982	0.84481	D	0.001107	0.40219	N	0.235599	0.908114	0.36340	D	2.54	0.74080	M	2.33	0.16794	T	-2.2	0.50337	N	0.325	0.36569	-0.8954	0.48446	T	0.106	0.38587	T	10	0.006062001	0.00136	T	0.010655	0.27430	T	0.126	0.34673	.	.	0.104622674875	0.10061	0.039214810868750394	0.03867	0.497447347806	0.48245	0.466643422842	0.34221	T	0.208963	0.56904	T	-0.527928	0.00395	T	-0.531389	0.19147	T	0.135137468576431	0.15849	T	0.740126	0.37414	T	0.27455127	0.50520	0.28137487	0.54119	0.27455127	0.50520	0.28137487	0.54118	-6.291	0.48650	T	.	.	0.273	0.63329	B	.;.;.;.;.	.;.;.;.;.	2.640700	0.34361	19.61	0.99229407829368932	0.56183	0.34538	0.25091	N	AEFDBI	0.158150	0.28376	N	0.171522803344348	0.49836	3.179601	0.00945469408973119	0.40153	2.391793	0.999999912274535	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.91	4.91	0.63897	3.074000	0.49763	2.128000	0.30762	0.545000	0.25583	0.417000	0.26305	0.944000	0.28851	0.031000	0.13245	0.0:1.0:0.0:0.0	13.593	0.61435	934	0.15400	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.010101	0.006812	0.005848	0.000000	0.008621	0.015244	0.000000	0.07143	304.83	37	chr1	201387170	.	C	T	304.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.235;DP=220;ExcessHet=0;FS=3.251;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=-1.033;SOR=1.278	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1620	6	0	1	0
chr1	202729148	202729148	C	T	exonic	KDM5B	.	nonsynonymous SNV	KDM5B:NM_001347591:exon26:c.G4388A:p.S1463N,KDM5B:NM_006618:exon27:c.G4523A:p.S1508N,KDM5B:NM_001314042:exon28:c.G4631A:p.S1544N	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.0139327758051	.	.	0.0003	0	0	0	0	0	0	0.0023	0.0002458	38	154602	rs759557715	0.0001	0.0001	6.534e-05	0.0002	0.0023	0.0001	0.0001	0.0021	0.0020	0	2.237e-05	0	2.519e-05	0	0.0002	0	6.623e-05	0.0023	7.22e-05	7.217e-05	2.569e-05	0.0001	0.0023	3.967e-05	3.124e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.107	0.29823	T	0.072	0.45110	T	0.007	0.16609	B	0.007	0.14941	B	0.000000	0.84330	D	0.035208	0.999945	0.53665	D	0.59	0.15444	N	-1.88	0.84487	D	-0.52	0.16187	N	0.45	0.48780	-0.4937	0.68876	T	0.393	0.74677	T	10	0.043435127	0.03192	T	0.013933	0.33698	T	0.305	0.62620	0.399	0.42753	0.412064437402	0.40821	0.2708919055594575	0.27002	0.221580012741	0.24695	0.721313118935	0.70239	T	0.027294	0.20020	T	-0.37356	0.03418	T	-0.315227	0.43097	T	0.0716355487032685	0.08878	T	0.806319	0.45525	T	0.15349941	0.34790	0.1494118	0.35280	0.17509925	0.38349	0.15987884	0.37264	-5.152	0.38450	T	.	.	0.112	0.33800	B	.;.;.;.;.	.;.;.;.;.	3.657736	0.51945	23.2	0.98757090067667086	0.45755	0.98432	0.82716	D	AEFDBI	0.658708	0.62988	D	0.049252744456416	0.44107	2.69092	0.284670802803803	0.54643	3.628791	0.999999881313519	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.95	5.95	0.96415	5.739000	0.68261	7.632000	0.62779	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9294:0.0:0.0706	13.569	0.61302	411	0.82069	Zinc finger, PHD-finger|Zinc finger, PHD-finger|Zinc finger, PHD-type;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2179.92	34	chr1	202729148	.	C	T	2179.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.9;DP=359;ExcessHet=0.4139;FS=6.795;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=0.73;SOR=1.117	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1210	4	0	2	1
chr1	203007553	203007553	C	T	exonic	TMEM183A	.	nonsynonymous SNV	TMEM183A:NM_001322955:exon1:c.C88T:p.H30Y,TMEM183A:NM_001322956:exon1:c.C88T:p.H30Y,TMEM183A:NM_001322957:exon1:c.C88T:p.H30Y,TMEM183A:NM_001322958:exon1:c.C88T:p.H30Y,TMEM183A:NM_001322959:exon1:c.C88T:p.H30Y,TMEM183A:NM_138391:exon1:c.C88T:p.H30Y	.	370	1146	6	0	0	6	0.00261097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.0276143502092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.30235	T	0.137	0.33894	T	0.65	0.40644	P	0.134	0.33146	B	0.000393	0.44960	D	0.224693	0.74323	0.29713	N	1.61	0.41143	L	1.94	0.22678	T	-0.83	0.22727	N	0.348	0.38950	-1.0630	0.11021	T	0.042	0.18160	T	10	0.15943912	0.29957	T	0.027614	0.50408	D	0.039	0.10176	0.232	0.16005	0.043077524339	0.03247	0.13915312214276856	0.13838	0.827125518207	0.67455	0.792491734028	0.80822	T	0.007053	0.06470	T	-0.1577	0.27116	T	-0.464302	0.26132	T	0.917970359325409	0.57603	D	0.931307	0.74459	D	0.19378039	0.41102	0.25867394	0.51603	0.19378039	0.41102	0.25867394	0.51602	-3.997	0.23759	T	.	.	0.118	0.24192	B	.	.	3.288117	0.45079	22.1	0.98620983885288216	0.43771	0.77233	0.37951	D	ALL	0.354613	0.44663	N	0.175044126822749	0.50003	3.194633	0.289311736656459	0.54915	3.655199	0.999999999979867	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.34	5.34	0.75982	1.845000	0.38920	3.859000	0.40127	0.525000	0.24333	1.000000	0.71638	1.000000	0.68203	0.526000	0.29613	0.0:0.786:0.214:0.0	12.807	0.57003	753	0.51500	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	390.27	45	chr1	203007553	.	C	T	390.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.517;DP=222;ExcessHet=0;FS=1.197;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=0.141;SOR=0.491	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,925	5	0	1	1
chr1	203765382	203765382	A	G	exonic	LAX1	.	nonsynonymous SNV	LAX1:NM_001136190:exon1:c.A40G:p.R14G	.	.	.	.	.	.	.	.	0.0002	0.16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00562705068173	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs751028544	0.0001	0.0001	0.0001	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	3.165e-05	0.0003	0	0	0	0.0002	0.0002	0.0001	2.524e-05	7.227e-05	7.223e-05	3.854e-05	0.0001	0.0002	3.971e-05	3.127e-05	6.803e-05	5.087e-05	0	0	0	0	0	0	0	0.0001	0.0005	0.0002	0.005	0.63226	D	0.207	0.26969	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	-1.17	0.29933	N	0.238	0.26837	-0.8682	0.50664	T	0.179	0.52443	T	8	0.14333978	0.27216	T	0.005627	0.14560	T	0.083	0.24192	.	.	0.61513531927	0.61202	.	.	.	.	.	.	.	.	.	.	-0.204328	0.20184	T	-0.235087	0.51278	T	0.401154667139053	0.28985	T	0.317868	0.06361	T	.	.	.	.	.	.	.	.	-2.722	0.07489	T	.	.	0.123	0.25753	B	.	.	2.546502	0.32951	19.20	0.99735085337332496	0.83047	0.62245	0.31723	D	ALL	0.234495	0.35725	N	0.180277857048358	0.50254	3.217096	0.122648378074755	0.45709	2.829351	0.999992812382726	0.74766	0.446893	0.09132	0	0.52208	0.09955	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.78	2.39	0.28492	2.134000	0.41725	3.669000	0.39431	0.756000	0.94297	0.988000	0.36536	1.000000	0.68203	0.855000	0.40485	0.6319:0.1952:0.0:0.1729	5.194	0.14552	537	0.73184	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1489.44	33	chr1	203765382	.	A	G	1489.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.519;DP=324;ExcessHet=0;FS=0.61;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-1.487;SOR=0.614	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	6	0	1	0
chr1	203798246	203798246	G	C	exonic	ZBED6	.	nonsynonymous SNV	ZBED6:NM_001174108:exon1:c.G724C:p.A242P	.	427	1091	4	0	0	4	0.00182983	.	.	.	2352686	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.186	0.0139777819891	.	0.000199681	0.0002	0	0	0	0	0	0	0.0004	5.82e-05	9	154602	rs571802658	0.0003	0.0003	0.0003	0.0003	0.0068	0.0003	0.0003	0.0051	0.0046	0.0002	8.405e-05	0	0	0	0.0068	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	2.406e-05	0	0.0002	0	0	0	0.0102	0.0003	0.0005	0	0.032	0.44694	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	0	0.06538	N	.	.	.	0.2	0.04861	N	0.256	0.28965	-0.8831	0.49513	T	0.111	0.39794	T	6	0.05215606	0.05207	T	0.013978	0.33782	T	0.186	0.46104	.	.	0.151104730317	0.14643	0.4101160173848844	0.40927	.	.	0.56683409214	0.48231	T	0.001793	0.01214	T	-0.107753	0.35141	T	-0.0744826	0.65305	T	0.0439972758264554	0.04419	T	0.561544	0.19673	T	0.30434647	0.53292	0.42488033	0.66314	0.30434647	0.53292	0.42488033	0.66314	-4.155	0.26097	T	.	.	0.429	0.61130	A	.	.	4.575094	0.72214	25.8	0.99547663534067765	0.70898	0.89114	0.49387	D	AEFDBHCIJ	0.533171	0.55273	D	0.136272020587185	0.48162	3.032083	0.254130782732214	0.52884	3.460368	0.999999999999878	0.74766	0.645754	0.44609	0	0.685571	0.66316	0	0.575934	0.27490	0	0.723	0.93126	0	.	.	4.56	4.56	0.55644	1.970000	0.40144	8.109000	0.76585	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	13.148	0.58891	460	0.78750	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001634	0.000000	0.000000	0.012987	0.000000	0.000000	0.000000	0.000000	0.07143	1480.44	106	chr1	203798246	.	G	C	1480.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1;DP=365;ExcessHet=0;FS=4.704;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-0.003;SOR=0.6	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	6	0	1	0
chr1	204444146	204444146	C	T	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.G2789A:p.C930Y,PIK3C2B:NM_002646:exon20:c.G2789A:p.C930Y,PIK3C2B:NM_001377335:exon21:c.G2705A:p.C902Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.0395205411741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.368e-06	1.362e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.051	0.49390	T	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.997849	0.44246	D	2.33	0.66821	M	0.01	0.62459	T	-4.37	0.77061	D	0.851	0.84817	-0.6521	0.62622	T	0.334	0.70101	T	10	0.7551726	0.75928	D	0.039521	0.58854	D	0.336	0.65816	0.312	0.28612	0.731197027204	0.72880	0.44362017305618334	0.44280	1.35405607476	0.84143	0.879551887512	0.93900	D	0.617515	0.87964	D	0.289904	0.82147	D	0.17865	0.81918	D	0.956505954265594	0.64774	D	0.920508	0.71260	D	0.453303	0.64250	0.49103993	0.70556	0.453303	0.64251	0.49103993	0.70557	-10.862	0.78895	D	.	.	0.601	0.79505	P	.;.	.;.	4.755519	0.76829	26.6	0.9976745670120315	0.85583	0.90357	0.51468	D	ALL	0.660412	0.63099	D	0.458512160282776	0.64688	4.728999	0.511871425671665	0.68789	5.26863	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	2.703000	0.46778	7.616000	0.62106	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.144:0.856:0.0:0.0	14.830	0.69772	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	776.49	69	chr1	204444146	.	C	T	776.49	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-3.669;DP=644;ExcessHet=2.5225;FS=250.412;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.58;ReadPosRankSum=1.17;SOR=9.926	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:131,42:173:99:.:.:173,0,2889:.	3	0	4	0
chr1	204444147	204444147	A	G	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.T2788C:p.C930R,PIK3C2B:NM_002646:exon20:c.T2788C:p.C930R,PIK3C2B:NM_001377335:exon21:c.T2704C:p.C902R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.0699442069728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.034	0.53788	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.83	0.20963	L	0.14	0.60854	T	-5.22	0.83830	D	0.861	0.86191	-0.7225	0.59339	T	0.246	0.61530	T	10	0.6625425	0.70238	D	0.069944	0.70868	D	0.372	0.69102	0.335	0.32329	0.796189045978	0.79428	0.5671153260514122	0.56639	1.38482303822	0.84866	0.874912202358	0.93263	D	0.60522	0.87406	D	0.279203	0.81249	D	0.163279	0.81006	D	0.975287973880768	0.70867	D	0.739426	0.52772	T	0.74623775	0.80650	0.7226829	0.83623	0.74623775	0.80652	0.7226829	0.83624	-7.62	0.58450	D	.	.	0.819	0.87226	P	.;.	.;.	4.639661	0.73847	26.1	0.99796849897327999	0.88194	0.90532	0.51786	D	ALL	0.673803	0.63974	D	0.263763222116594	0.54323	3.598145	0.384514743775906	0.60611	4.250483	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	3.831000	0.55477	11.132000	0.86827	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9272:0.0:0.0728:0.0	10.472	0.43830	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	333.34	69	chr1	204444147	.	A	G	333.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-4.307;DP=565;ExcessHet=0.3476;FS=324.178;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.78;ReadPosRankSum=1.51;SOR=8.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:129,0:129:99:.:.:0,120,1800:.	5	0	2	0
chr1	204954892	204954892	C	T	exonic	NFASC	.	nonsynonymous SNV	NFASC:NM_001160331:exon4:c.C458T:p.T153M,NFASC:NM_001160332:exon6:c.C458T:p.T153M,NFASC:NM_001160333:exon6:c.C458T:p.T153M,NFASC:NM_001365986:exon6:c.C458T:p.T153M,NFASC:NM_001378330:exon6:c.C458T:p.T153M,NFASC:NM_001378331:exon6:c.C458T:p.T153M,NFASC:NM_015090:exon6:c.C458T:p.T153M,NFASC:NM_001005388:exon7:c.C476T:p.T159M,NFASC:NM_001005389:exon7:c.C476T:p.T159M,NFASC:NM_001378329:exon7:c.C476T:p.T159M	.	429	1073	20	0	0	20	0.00923361	.	.	.	718558	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.080	.	0.0052	0.0061901	0.0094	0.0020	0.0029	0.0052	0.0520	0.0079	0.0166	0.0094	0.0087838	1358	154602	rs3795564	0.0085	0.0085	0.0085	0.0085	0.0185	0.0084	0.0083	0.0174	0.0169	0.0013	0.0027	0.0035	0.0185	0.0470	0.0066	0.0070	0.0064	0.0093	0.0091	0.0091	0.0070	0.0112	0.0104	0.0087	0.0085	0.0081	0.0073	0.0015	0	0.0035	0.0020	0.0100	0.0560	0.0068	0.0081	0.0071	0.0104	0.005	0.72154	D	0.002	0.79402	D	0.995	0.67487	D	0.56	0.49558	P	0.001966	0.37549	N	0.118237	0.837036	0.35007	D	1.15	0.29295	L	2.28	0.17271	T	-0.21	0.16799	N	0.425	0.46462	-1.0784	0.07661	T	0.029	0.12541	T	10	0.005971402	0.00134	T	.	.	.	0.080	0.23350	.	.	.	.	0.1970622500058045	0.19623	1.14478949155	0.79045	0.51631295681	0.41107	T	0.124911	0.45026	T	-0.454693	0.01060	T	-0.416516	0.31475	T	0.0286638671957557	0.01786	T	0.983802	0.94506	D	.	.	.	.	.	.	.	.	-6.5	0.50286	T	.	.	0.129	0.32637	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.356233	0.66946	25.0	0.99652597649873598	0.77380	0.77915	0.38368	D	AEFDBI	0.198435	0.32530	N	0.414129874066812	0.62197	4.431956	0.476585348639162	0.66441	4.952566	0.769489727668072	0.23647	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.46	5.46	0.80021	3.281000	0.51389	4.870000	0.45558	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.792000	0.37394	0.0:0.6829:0.1622:0.1549	6.124	0.19387	735	0.53711	.;.;.;.;.;.;.;.;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008056	0.000000	0.001359	0.002924	0.000000	0.000000	0.018293	0.022727	0.07143	2386.44	34	chr1	204954892	.	C	T	2386.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.265;DP=401;ExcessHet=0;FS=1.063;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-0.468;SOR=0.793	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	6	0	1	0
chr1	204975313	204975313	G	A	exonic	NFASC	.	nonsynonymous SNV	NFASC:NM_001160331:exon13:c.G1634A:p.R545K,NFASC:NM_001160333:exon14:c.G1583A:p.R528K,NFASC:NM_001005388:exon15:c.G1601A:p.R534K,NFASC:NM_001005389:exon15:c.G1601A:p.R534K,NFASC:NM_001160332:exon15:c.G1634A:p.R545K,NFASC:NM_001365986:exon15:c.G1634A:p.R545K,NFASC:NM_001378329:exon15:c.G1601A:p.R534K,NFASC:NM_001378330:exon15:c.G1634A:p.R545K,NFASC:NM_001378331:exon15:c.G1634A:p.R545K,NFASC:NM_015090:exon15:c.G1634A:p.R545K	.	420	1089	13	0	0	13	0.00593336	.	.	.	732031	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.039	.	0.0037	0.00499201	0.0063	0.0026	0.0026	0.0052	0.0224	0.0053	0.0077	0.0092	0.0059443	919	154602	rs56223230	0.0060	0.0060	0.0059	0.0060	0.0118	0.0059	0.0058	0.0110	0.0106	0.0021	0.0026	0.0035	0.0118	0.0195	0.0059	0.0053	0.0050	0.0092	0.0058	0.0058	0.0048	0.0068	0.0101	0.0055	0.0053	0.0079	0.0071	0.0024	0	0.0031	0.0020	0.0052	0.0221	0.0068	0.0059	0.0047	0.0101	0.755	0.03533	T	1.0	0.01155	T	0.006	0.13644	B	0.0	0.04355	B	0.000043	0.53742	N	0.000000	1	0.08975	N	0.21	0.09513	N	-0.18	0.65747	T	0.5	0.03463	N	0.231	0.28498	-1.0004	0.29803	T	0.074	0.29739	T	10	0.006029129	0.00135	T	.	.	.	0.091	0.26358	.	.	0.266724437049	0.26276	0.4416807569596123	0.44085	0.378818406335	0.39287	0.390015304089	0.23671	T	0.083866	0.37150	T	-0.481388	0.00726	T	-0.45715	0.26910	T	0.000503399159067145	0.00004	T	0.385761	0.12522	T	.	.	.	.	.	.	.	.	-4.378	0.33477	T	.	.	0.154	0.38444	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.715800	0.21849	15.37	0.52303273639677472	0.04722	0.02644	0.07246	N	AEFDBCI	0.057449	0.10701	N	-1.07946312828494	0.07022	0.3250049	-0.976300699778254	0.10319	0.5189583	0.990424165957788	0.32149	0.615465	0.37627	0	0.615948	0.52940	0	0.658983	0.55881	0	0.584449	0.35598	0	.	.	5.23	4.06	0.46572	1.306000	0.33110	5.295000	0.48219	-0.040000	0.17491	0.003000	0.16062	1.000000	0.68203	0.972000	0.54974	0.7647:0.1551:0.0802:0.0	6.560	0.21676	809	0.43032	.;.;.;.;.;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.005051	0.002717	0.002941	0.000000	0.000000	0.015244	0.022727	0.07143	2308.53	34	chr1	204975313	.	G	A	2308.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.599;DP=299;ExcessHet=0;FS=2.308;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.47;ReadPosRankSum=-0.418;SOR=0.957	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1145:.	6	0	1	0
chr1	204975408	204975408	A	G	exonic	NFASC	.	nonsynonymous SNV	NFASC:NM_001160331:exon13:c.A1729G:p.I577V,NFASC:NM_001160333:exon14:c.A1678G:p.I560V,NFASC:NM_001005388:exon15:c.A1696G:p.I566V,NFASC:NM_001005389:exon15:c.A1696G:p.I566V,NFASC:NM_001160332:exon15:c.A1729G:p.I577V,NFASC:NM_001365986:exon15:c.A1729G:p.I577V,NFASC:NM_001378329:exon15:c.A1696G:p.I566V,NFASC:NM_001378330:exon15:c.A1729G:p.I577V,NFASC:NM_001378331:exon15:c.A1729G:p.I577V,NFASC:NM_015090:exon15:c.A1729G:p.I577V	.	424	1084	14	0	0	14	0.00641613	.	.	.	732033	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.039	.	0.0035	0.00459265	0.0062	0.0016	0.0026	0.0052	0.0224	0.0053	0.0078	0.0093	0.0058667	907	154602	rs55778126	0.0060	0.0060	0.0059	0.0060	0.0119	0.0059	0.0058	0.0110	0.0106	0.0008	0.0025	0.0035	0.0119	0.0195	0.0059	0.0053	0.0049	0.0092	0.0055	0.0055	0.0044	0.0065	0.0104	0.0051	0.0050	0.0081	0.0073	0.0012	0	0.0031	0.0020	0.0054	0.0221	0.0068	0.0059	0.0047	0.0104	0.93	0.05899	T	1.0	0.03241	T	0.104	0.25941	B	0.005	0.16862	B	0.000045	0.53742	D	0.000000	0.962784	0.38310	D	0.13	0.08652	N	-0.2	0.66113	T	-0.38	0.13418	N	0.167	0.18103	-1.0717	0.09043	T	0.077	0.30920	T	10	0.0043955445	0.00089	T	.	.	.	0.039	0.10176	.	.	0.352477664867	0.34857	0.25001421859308337	0.24915	0.333250129278	0.35360	0.276788443327	0.07049	T	0.098893	0.40316	T	-0.49733	0.00592	T	-0.480049	0.24441	T	0.00531163066625595	0.00057	T	0.788221	0.42759	T	.	.	.	.	.	.	.	.	-7.379	0.56757	T	.	.	0.137	0.29779	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.570244	0.20101	14.59	0.80909493949894218	0.13427	0.38379	0.25975	N	AEFDBCI	0.233864	0.35671	N	-0.619661391400152	0.18355	0.9522322	-0.48486628567447	0.22569	1.226516	0.999334318026092	0.39185	0.615465	0.37627	0	0.615948	0.52940	0	0.658983	0.55881	0	0.584449	0.35598	0	.	.	5.38	2.98	0.33575	0.065000	0.14336	1.888000	0.29498	0.756000	0.94297	0.006000	0.17386	0.980000	0.30356	0.960000	0.51673	0.7058:0.0:0.1559:0.1383	4.747	0.12418	809	0.43032	.;.;.;.;.;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008056	0.000000	0.002717	0.002924	0.000000	0.000000	0.015244	0.022727	0.07143	1570.49	34	chr1	204975408	.	A	G	1570.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.05;DP=307;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.943;SOR=0.646	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	6	0	1	0
chr1	205662905	205662905	C	T	exonic	SLC45A3	.	nonsynonymous SNV	SLC45A3:NM_033102:exon3:c.G886A:p.V296M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.564	0.0904829960504	0.0002	0.000199681	0.0002	9.966e-05	8.666e-05	0	0.0002	0.0003	0	0	0.0002264	35	154602	rs150262445	0.0005	0.0005	0.0005	0.0004	0.0006	0.0004	0.0004	0.0005	0.0005	0.0001	0	0.0002	2.52e-05	0.0002	0	0.0006	0.0005	1.16e-05	0.0003	0.0003	0.0004	0.0001	0.0006	0.0002	0.0002	0.0004	0.0004	7.217e-05	0	6.533e-05	0	0	9.411e-05	0	0.0006	0	0	0.16	0.23721	T	0.0	0.92824	D	0.997	0.70673	D	0.88	0.62516	P	0.000000	0.84330	D	0.000000	0.999497	0.47278	D	0.795	0.19620	N	-3.08	0.92560	D	-1.72	0.40850	N	0.479	0.51405	0.361	0.88509	D	0.757	0.91717	D	10	0.32744324	0.50027	T	0.090483	0.75526	D	0.564	0.82175	.	.	0.74702816087	0.74474	0.6539885887149182	0.65334	1.10781785835	0.77950	0.766590952873	0.76913	T	0.098908	0.40320	T	-0.125919	0.32158	T	-0.0714782	0.65520	T	0.263313442468643	0.23459	T	0.909009	0.67793	D	0.1496849	0.34112	0.1786371	0.40546	0.1496849	0.34112	0.1786371	0.40545	-5.23	0.39245	T	.	.	0.292	0.52343	B	.	.	3.816679	0.55084	23.6	0.99889344383874534	0.96359	0.94390	0.61013	D	AEFDBI	0.576190	0.57828	D	0.352243309990115	0.58856	4.060734	0.347433353321915	0.58353	4.005352	0.999999730465911	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.662433	0.64102	0	.	.	5.13	4.2	0.48814	4.739000	0.61776	7.649000	0.63599	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.776000	0.36750	0.1481:0.8518:0.0:0.0	14.484	0.67183	685	0.59416	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	371.44	37	chr1	205662905	.	C	T	371.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.532;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.9;ReadPosRankSum=0.462;SOR=0.721	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr1	205842737	205842737	G	T	exonic	PM20D1	.	nonsynonymous SNV	PM20D1:NM_152491:exon7:c.C842A:p.P281Q	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	.	0.0040	0.00559105	0.0053	0.0013	0.0129	0	0.0112	0.0059	0.0011	0.0008	0.0053233	823	154602	rs141605758	0.0056	0.0056	0.0058	0.0054	0.0123	0.0055	0.0055	0.0114	0.0111	0.0008	0.0123	0.0007	2.519e-05	0.0132	0.0014	0.0058	0.0050	0.0011	0.0050	0.0050	0.0049	0.0051	0.0101	0.0047	0.0046	0.0088	0.0083	0.0013	0.0033	0.0101	0.0009	0	0.0123	0.0034	0.0059	0.0066	0.0002	0.087	0.32453	T	0.231	0.25061	T	0.927	0.51527	P	0.781	0.57337	P	0.000193	0.48115	N	0.249791	0.999896	0.50595	D	2.215	0.62545	M	0.45	0.56446	T	-5.07	0.82830	D	0.293	0.33140	-0.7329	0.58817	T	0.174	0.51690	T	10	0.007482469	0.00170	T	.	.	.	0.288	0.60691	.	.	0.290590437066	0.28656	0.8010242509844844	0.80056	0.476760068928	0.46798	0.408552825451	0.26256	T	0.077016	0.35556	T	-0.409847	0.01992	T	-0.351105	0.39079	T	0.0395951088728952	0.03617	T	0.666933	0.27600	T	0.21398528	0.43792	0.32533416	0.58450	0.21398528	0.43792	0.32533416	0.58449	-5.374	0.40669	T	.	.	0.139	0.30450	B	.	.	3.898114	0.56761	23.8	0.98493352775274601	0.42120	0.95350	0.64378	D	AEFBI	0.467229	0.51455	N	0.288292868158417	0.55555	3.719494	0.281176072289247	0.54440	3.609071	0.99265222118269	0.32919	0.497415	0.19182	0	0.59043	0.45803	0	0.55458	0.18720	0	0.530356	0.10902	0	.	.	5.84	4.94	0.64645	4.467000	0.59889	6.671000	0.56279	-0.693000	0.04107	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0704:0.0:0.7868:0.1428	9.622	0.38891	778	0.48011	Peptidase M20, dimerisation domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.010101	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	1166.45	39	chr1	205842737	.	G	T	1166.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.48;DP=324;ExcessHet=0;FS=0.689;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=-1.445;SOR=0.582	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr1	205915106	205915106	G	T	exonic	SLC26A9	.	nonsynonymous SNV	SLC26A9:NM_134325:exon22:c.C2450A:p.A817D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.06703353179	.	.	.	.	.	.	.	.	.	.	.	.	.	rs767516646	6.841e-07	6.84e-07	1.361e-06	0	2.236e-05	0	0	.	.	0	2.236e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.0	0.92824	D	.	.	.	.	.	.	0.023702	0.01597	N	2.812080	1	0.08975	N	.	.	.	-3.27	0.93640	D	-0.05	0.07736	N	0.075	0.04913	-0.2645	0.75965	T	0.500	0.81110	D	10	0.065490484	0.08844	T	0.067034	0.70049	D	0.116	0.32463	0.307	0.27806	0.184867976434	0.18130	0.1276473953066056	0.12690	0.207801268621	0.23247	0.279533684254	0.07427	T	.	.	.	-0.163113	0.26282	T	-0.389212	0.34643	T	0.106747478246689	0.13084	T	0.317468	0.06331	T	.	.	.	.	.	.	.	.	-3.935	0.22828	T	.	.	0.097	0.15609	B	.;.	.;.	-0.068611	0.03831	0.821	0.96740248719998934	0.30920	0.03635	0.08881	N	AEFDBI	0.101767	0.20432	N	-1.15214546705448	0.05745	0.2627018	-1.20071764211014	0.05899	0.2823963	0.942781054298541	0.27538	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.04	-2.01	0.07003	-1.058000	0.03593	0.199000	0.15831	-0.699000	0.04065	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.1581:0.2537:0.3288:0.2594	1.374	0.02082	820	0.40914	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1681.44	33	chr1	205915106	.	G	T	1681.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.472;DP=336;ExcessHet=0;FS=0.623;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-1.202;SOR=0.756	GT:AD:DP:GQ:PL	0/1:83,67:150:99:1692,0,2303	6	0	1	0
chr1	205931898	205931898	C	T	exonic	SLC26A9	.	nonsynonymous SNV	SLC26A9:NM_052934:exon5:c.G514A:p.V172M,SLC26A9:NM_134325:exon5:c.G514A:p.V172M	.	419	1083	17	2	1	22	0.00960219	.	.	.	2816003	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.397	.	0.0085	0.00359425	0.0058	0.0017	0.0068	0	0.0011	0.0083	0.0089	0.0025	0.0058473	904	154602	rs146704092	0.0094	0.0094	0.0095	0.0093	0.0114	0.0092	0.0092	0.0106	0.0105	0.0014	0.0072	0.0110	0	0.0019	0.0114	0.0107	0.0097	0.0040	0.0065	0.0065	0.0072	0.0059	0.0104	0.0062	0.0060	0.0098	0.0095	0.0019	0	0.0075	0.0115	0	0.0008	0.0102	0.0104	0.0099	0.0037	0.001	0.78490	D	0.007	0.69154	D	0.96	0.55278	D	0.539	0.48797	P	0.000588	0.43095	D	0.076895	0.511617	0.31824	D	1.975	0.53506	M	-3.33	0.93928	D	-2.49	0.54217	N	0.552	0.59901	0.324	0.87936	D	0.578	0.84805	D	10	0.01134181	0.00248	T	.	.	.	0.397	0.71163	.	.	0.617109349803	0.61401	0.6109526738294958	0.61027	0.225470184611	0.25090	0.561065077782	0.47418	T	0.761479	0.93542	D	-0.208106	0.19646	T	-0.0623108	0.66171	T	0.0326912113772021	0.02420	T	0.946405	0.79487	D	0.4974332	0.66944	0.4550023	0.68314	0.4974332	0.66945	0.4550023	0.68314	-6.052	0.47898	T	.	.	0.292	0.52301	B	.;.;.	.;.;.	4.745993	0.76591	26.5	0.99883720873449444	0.95970	0.65647	0.32807	D	AEFDBI	0.124916	0.24119	N	0.3329950590282	0.57849	3.954021	0.401380995396917	0.61652	4.368212	0.999973006693569	0.50053	0.446893	0.09132	0	0.563428	0.19063	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	5.24	5.24	0.72863	2.706000	0.46803	4.814000	0.45064	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.984000	0.60418	0.0:0.787:0.0:0.213	7.217	0.25139	.	.	.;SLC26A/SulP transporter domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010574	0.025253	0.010870	0.005848	0.000000	0.000000	0.003049	0.007576	0.07143	1466.44	34	chr1	205931898	.	C	T	1466.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.58;DP=341;ExcessHet=0;FS=0.619;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=0.626;SOR=0.61	GT:AD:DP:GQ:PL	0/1:83,65:148:99:1477,0,1894	6	0	1	0
chr1	206010341	206010341	C	T	exonic	CTSE	.	nonsynonymous SNV	CTSE:NM_001910:exon9:c.G1033A:p.V345M	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.00438121497209	.	.	.	.	.	.	.	.	.	.	.	.	.	rs145069780	0.0027	0.0027	0.0027	0.0026	0.0032	0.0026	0.0026	0.0031	0.0031	0.0004	0.0007	0.0003	0.0005	0.0002	0	0.0032	0.0019	0.0019	0.0013	0.0013	0.0013	0.0012	0.0021	0.0011	0.0011	0.0018	0.0017	0.0003	0	0.0011	0.0003	0.0006	0.0004	0	0.0021	0.0014	0.0015	0.07	0.35349	T	0.106	0.37872	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	0.57575	T	0.17	0.05125	N	0.145	0.14622	.	.	.	.	.	.	.	0.04523146	0.03569	T	.	.	.	.	.	.	.	.	.	0.7419575988196351	0.74141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.633837	0.24812	T	.	.	.	.	.	.	.	.	-4.205	0.26824	T	.	.	0.132	0.28406	B	.	.	2.436677	0.31353	18.72	.	.	.	.	.	.	0.040683	0.06085	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432000	0.21180	1.230000	0.25036	0.519000	0.23678	0.000000	0.06391	0.002000	0.18203	0.681000	0.33571	.	.	.	.	.	Peptidase family A1 domain|Peptidase family A1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	695.53	69	chr1	206010341	.	C	T	695.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.084;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=0.21;SOR=0.663	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1243	6	0	1	0
chr1	206203947	206203947	T	C	exonic	FAM72A	.	nonsynonymous SNV	FAM72A:NM_001317901:exon1:c.A49G:p.R17G,FAM72A:NM_001385243:exon2:c.A49G:p.R17G,FAM72A:NM_001385244:exon2:c.A49G:p.R17G,FAM72A:NM_001385245:exon2:c.A49G:p.R17G	.	913	596	6	7	0	20	0.0165017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782683246	0.0082	0.0078	0.0076	0.0089	0.0296	0.0081	0.0080	0.0252	0.0236	0.0012	0.0059	0.0119	0.0236	0.0149	0.0296	0.0063	0.0092	0.0239	0.0065	0.0067	0.0061	0.0071	0.0190	0.0062	0.0061	0.0157	0.0144	0.0012	0	0.0052	0.0095	0.0132	0.0139	0.0350	0.0074	0.0071	0.0190	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.23	0.36872	T	-0.06	0.07882	N	0.288	0.32591	.	.	.	.	.	.	.	0.00577268	0.00129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524448	0.17180	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.42706	B	.;.	.;.	0.716609	0.10854	7.533	.	.	.	.	.	.	0.053696	0.09698	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.236000	0.09019	-1.473000	0.05360	0.490000	0.22344	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	.	.	.	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	112.38	3	chr1	206203947	.	T	C	112.38	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.967;DP=39;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=29.01;MQRankSum=0.431;QD=12.49;ReadPosRankSum=0;SOR=0.223	GT:AD:DP:GQ:PL	0/0:7,0:7:18:0,18,270	4	1	1	1
chr1	206932498	206932498	C	G	exonic	PIGR	.	nonsynonymous SNV	PIGR:NM_002644:exon8:c.G1966C:p.V656L	.	413	1087	18	4	0	26	0.0118182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00592024340116	0.0004	0.000599042	0.0011	9.636e-05	0.0013	0	0	0.0014	0.0066	0.0011	0.0010931	169	154602	rs148554144	0.0008	0.0008	0.0007	0.0009	0.0188	0.0008	0.0008	0.0158	0.0146	0.0008	0.0015	0.0037	0	0.0001	0.0188	0.0006	0.0019	0.0009	0.0008	0.0008	0.0008	0.0008	0.0014	0.0007	0.0006	0.0010	0.0008	0.0002	0.0044	0.0014	0.0032	0	9.418e-05	0.0170	0.0010	0.0014	0.0004	0.154	0.24277	T	0.36	0.16964	T	0.046	0.21875	B	0.014	0.16862	B	0.810141	0.06822	N	1.097150	1	0.08975	N	1.495	0.37439	L	2.25	0.17761	T	-1.15	0.29525	N	0.122	0.11340	-0.9914	0.32244	T	0.023	0.09741	T	10	0.004830539	0.00103	T	0.00592	0.15430	T	0.011	0.01250	0.321	0.30064	0.102598925029	0.09809	0.20488236603337995	0.20405	0.312803264204	0.33579	0.355740189552	0.18764	T	0.167494	0.51414	T	-0.667726	0.00057	T	-0.772452	0.02688	T	0.0034461482675879	0.00036	T	0.573743	0.20563	T	0.068330966	0.14877	0.053129427	0.08890	0.068330966	0.14877	0.053129427	0.08889	-4.186	0.26548	T	.	.	0.131	0.28203	B	.	.	0.427079	0.07975	4.689	0.84855032075228121	0.15537	0.04391	0.09973	N	AEFDBCI	0.116659	0.22887	N	-1.20128013277353	0.04982	0.2260639	-1.31522828661296	0.04233	0.1992294	0.999999979320682	0.74766	0.600919	0.35232	0	0.596877	0.49441	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.51	-8.4	0.00843	-1.046000	0.03635	-2.899000	0.03249	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.516000	0.29383	0.1818:0.2237:0.0898:0.5047	3.302	0.06576	798	0.45050	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.017641	0.005051	0.024457	0.020468	0.050000	0.025862	0.009146	0.003817	0.07143	515.53	31	chr1	206932498	.	C	G	515.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.43;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=-1.911;SOR=0.665	GT:AD:DP:GQ:PL	0/1:31,24:55:99:526,0,644	6	0	1	0
chr1	207582003	207582003	C	T	exonic	CR1	.	nonsynonymous SNV	CR1:NM_000573:exon24:c.C3952T:p.H1318Y,CR1:NM_001381851:exon24:c.C3952T:p.H1318Y,CR1:NM_000651:exon32:c.C5302T:p.H1768Y	CR1 deficiency (1)	427	1093	2	0	0	2	0.000914077	0.0139	0.1	.	3209540	CR1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.141	.	8.2e-05	0.00419329	0.0020	0	0	0	0	3.001e-05	0.0022	0.0142	0.001727	267	154602	rs201880876	0.0009	0.0009	0.0005	0.0013	0.0142	0.0009	0.0009	0.0135	0.0132	6.024e-05	0	0	5.062e-05	0	0.0005	5.256e-05	0.0008	0.0142	0.0005	0.0005	0.0003	0.0007	0.0145	0.0004	0.0004	0.0118	0.0108	2.408e-05	0	0	0	0	0	0.0034	4.411e-05	0	0.0145	0.335	0.46129	T	0.087	0.42261	T	0.998	0.73220	D	0.467	0.46683	P	.	.	.	.	0.999887	0.19853	N	.	.	.	1.91	0.23283	T	-1.05	0.27463	N	0.217	0.35727	-1.1008	0.03996	T	0.028	0.11882	T	9	0.0066961944	0.00152	T	0.005847	0.15221	T	0.141	0.37795	.	.	0.310147130316	0.30628	0.2519600382206799	0.25110	0.182580710226	0.20522	0.317342579365	0.13017	T	.	.	.	-0.602602	0.00141	T	-0.627342	0.10617	T	0.116647149616809	0.14099	T	0.145785	0.02268	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.16756	B	.;.;.;.;.	.;.;.;.;.	2.788315	0.36647	20.3	0.99300620523286132	0.58613	0.55769	0.29947	D	AEFDBI	0.249375	0.36962	N	-0.403262098807412	0.25355	1.375745	-0.323818172512877	0.27332	1.515849	0.00113602278991335	0.08261	0.638212	0.43195	0	0.670034	0.63936	0	0.315538	0.05692	2	0.530356	0.10902	0	.	.	3.96	1.88	0.24630	0.348000	0.19784	0.916000	0.22667	-0.223000	0.07921	0.993000	0.37899	0.992000	0.31684	0.982000	0.59238	0.4289:0.5711:0.0:0.0	8.349	0.31454	768	0.49510	.;.;.;Sushi/SCR/CCP domain;Sushi/SCR/CCP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	1178.27	33	chr1	207582003	.	C	T	1178.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.37;DP=272;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-1.383;SOR=0.793	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	5	0	1	1
chr1	209626899	209626899	C	T	exonic	LAMB3	.	nonsynonymous SNV	LAMB3:NM_001017402:exon12:c.G1565A:p.R522Q,LAMB3:NM_000228:exon13:c.G1565A:p.R522Q,LAMB3:NM_001127641:exon13:c.G1565A:p.R522Q	Amelogenesis imperfecta, type IA, Autosomal dominant;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	278833	Junctional_epidermolysis_bullosa_gravis_of_Herlitz|Inborn_genetic_diseases|Junctional_epidermolysis_bullosa|Junctional_epidermolysis_bullosa,_non-Herlitz_type	MONDO:MONDO:0009182,MedGen:C0079683,OMIM:226700,Orphanet:79404|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305|MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650,Orphanet:251393,Orphanet:79402,Orphanet:79405,Orphanet:89840	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.085	0.046699987683	7.7e-05	0.000199681	0.0002	0	0.0004	0.0004	0	7.732e-05	0	0.0003	0.0001423	22	154602	rs144249951	0.0001	0.0001	9.939e-05	0.0001	0.0006	9.403e-05	8.885e-05	0.0005	0.0005	5.975e-05	0.0006	0	0.0001	0	0	5.576e-05	0.0001	0.0006	0.0001	0.0001	0.0001	0.0001	0.0007	7.084e-05	5.742e-05	0.0004	0.0003	0	0	0.0007	0	0.0002	0	0	7.349e-05	0	0	0.164	0.23360	T	0.096	0.39340	T	0.2	0.29645	B	0.076	0.28435	B	0.057015	0.22514	N	0.489478	1	0.08975	N	0.965	0.23975	L	0.13	0.60973	T	-0.56	0.17003	N	0.106	0.09207	-1.0157	0.25110	T	0.115	0.40875	T	10	0.025185257	0.00721	T	0.047	0.62578	D	0.085	0.24743	.	.	0.639313143913	0.63634	0.27207698570123195	0.27120	0.177302637107	0.19951	0.267791390419	0.05855	T	0.077422	0.35650	T	-0.475728	0.00784	T	-0.555828	0.16771	T	0.0189244678294178	0.00602	T	0.710029	0.32075	T	0.11373121	0.26858	0.08497311	0.19586	0.11373121	0.26857	0.08497311	0.19586	-6.684	0.51690	T	0.26412771722732586	0.35625	0.065	0.01934	B	.;.;.	.;.;.	1.079845	0.14625	11.19	0.99478388710232746	0.66741	0.08042	0.14018	N	AEFDBCI	0.102342	0.20533	N	-0.896454799405237	0.10926	0.5246086	-0.943660014824361	0.11070	0.5617463	0.999998902488437	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.565031	0.19037	0	0.655142	0.61905	0	.	.	5.7	-0.461	0.11564	-0.053000	0.11802	-0.485000	0.08896	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.081000	0.17303	0.0:0.6147:0.0:0.3853	10.374	0.43256	947	0.11584	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1694.44	35	chr1	209626899	.	C	T	1694.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.02;DP=390;ExcessHet=0;FS=1.294;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=0.833;SOR=0.729	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1368	6	0	1	0
chr1	209775710	209775710	C	T	exonic	TRAF3IP3	.	nonsynonymous SNV	TRAF3IP3:NM_001287754:exon4:c.C235T:p.L79F,TRAF3IP3:NM_001320143:exon11:c.C1027T:p.L343F,TRAF3IP3:NM_001320144:exon11:c.C967T:p.L323F,TRAF3IP3:NM_025228:exon11:c.C1027T:p.L343F	.	380	1130	12	0	0	12	0.00528169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339	.	0.0048	0.00439297	0.0040	0.0010	0.0045	0	0.0006	0.0061	0.0022	0.0005	0.0040491	626	154602	rs41307652	0.0050	0.0050	0.0050	0.0050	0.0059	0.0049	0.0049	0.0058	0.0057	0.0009	0.0052	0.0031	0	0.0006	0.0029	0.0059	0.0050	0.0005	0.0039	0.0039	0.0041	0.0036	0.0076	0.0036	0.0035	0.0065	0.0060	0.0009	0.0011	0.0076	0.0035	0	0.0003	0	0.0058	0.0090	0.0006	0.054	0.38633	T	0.162	0.63109	T	0.936	0.52359	P	0.609	0.51053	P	0.000005	0.62929	D	0.000000	0.79027	0.36624	D	2.255	0.64187	M	-1.39	0.83241	T	-1.88	0.46842	N	0.23	0.28498	0.078	0.83778	D	0.454	0.78703	T	10	0.006277114	0.00142	T	.	.	.	0.339	0.66106	.	.	0.842767848883	0.84126	0.16174860794809576	0.16095	0.225302997667	0.25073	0.505809545517	0.39637	T	0.030478	0.28058	T	-0.27487	0.11219	T	-0.164997	0.57900	T	0.0171851992259915	0.00462	T	0.794321	0.50060	T	0.12734988	0.29803	0.11810117	0.28508	0.12734988	0.29803	0.11810117	0.28508	-3.567	0.17381	T	.	.	0.165	0.47503	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.763646	0.22429	15.62	0.9963881840598402	0.76510	0.61101	0.31386	D	AEFDGBCI	0.183072	0.31040	N	0.281987145407786	0.55235	3.687721	0.305944561205827	0.55886	3.752	0.999999998942335	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.78	4.78	0.60666	1.280000	0.32807	1.346000	0.25772	0.599000	0.40250	0.955000	0.33325	0.774000	0.26724	0.948000	0.49324	0.0:0.9068:0.0:0.0932	10.11	0.41730	866	0.32446	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001515	0.000000	0.002725	0.000000	0.000000	0.000000	0.006135	0.000000	0.1429	2299.29	32	chr1	209775710	.	C	T	2299.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.344;DP=295;ExcessHet=0.3476;FS=0.613;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=0.989;SOR=0.797	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1269	5	0	2	0
chr1	210241790	210241790	G	A	exonic	SERTAD4	.	nonsynonymous SNV	SERTAD4:NM_001375428:exon4:c.G524A:p.R175Q,SERTAD4:NM_019605:exon4:c.G524A:p.R175Q	.	406	1101	14	1	0	16	0.00721371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	.	0.0015	0.00299521	0.0028	0.0007	0.0015	0	0.0006	0.0025	0.0044	0.0080	0.0026067	403	154602	rs138093906	0.0023	0.0023	0.0021	0.0025	0.0139	0.0023	0.0022	0.0114	0.0105	0.0005	0.0022	0.0058	2.519e-05	0.0007	0.0139	0.0020	0.0027	0.0079	0.0022	0.0022	0.0019	0.0025	0.0081	0.0020	0.0019	0.0061	0.0054	0.0003	0.0351	0.0062	0.0072	0	0.0002	0.0068	0.0017	0.0028	0.0081	0.0	0.91255	D	0.011	0.64786	D	1.0	0.90584	D	0.988	0.77976	D	0.000011	0.62929	D	0.000000	0.998528	0.45035	D	1.1	0.28011	L	.	.	.	-1.8	0.42384	N	0.789	0.78546	-0.3561	0.73377	T	0.349	0.71352	T	9	0.008887917	0.00201	T	.	.	.	0.534	0.80426	.	.	0.275349458131	0.27150	0.7133482058669399	0.71277	0.499410879327	0.48384	0.553123831749	0.46299	T	0.123561	0.44801	T	0.0293313	0.55634	T	0.273781	0.86783	D	0.0358935744080481	0.02962	T	.	.	.	0.5058693	0.67438	0.4796554	0.69862	0.5058693	0.67439	0.4796554	0.69862	-5.214	0.39084	T	.	.	0.655	0.71124	P	.	.	5.336649	0.89551	30	0.99950196937596725	0.99938	0.99091	0.91093	D	AEFBI	0.843061	0.76012	D	0.731939406711602	0.81726	7.590215	0.762702796108757	0.87103	9.107962	0.999999981136599	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.221012	0.04332	2	.	.	5.55	5.55	0.83298	7.874000	0.85582	11.927000	0.99878	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.861	0.96782	699	0.57969	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.000000	0.013587	0.011696	0.000000	0.017241	0.000000	0.011364	0.1429	4065.24	37	chr1	210241790	.	G	A	4065.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.19;DP=485;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.63;SOR=0.679	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	5	0	2	0
chr1	211967967	211967967	C	G	exonic	INTS7	.	nonsynonymous SNV	INTS7:NM_001199809:exon14:c.G1878C:p.M626I,INTS7:NM_001199811:exon15:c.G2025C:p.M675I,INTS7:NM_001199812:exon15:c.G2025C:p.M675I,INTS7:NM_015434:exon15:c.G2025C:p.M675I	.	439	1080	3	0	0	3	0.00138696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	0.00179712	0.0016	9.831e-05	8.72e-05	0	0	0	0	0.0115	0.0013454	208	154602	rs372551719	0.0006	0.0006	0.0003	0.0009	0.0096	0.0006	0.0006	0.0091	0.0088	3.07e-05	2.373e-05	0	0	0	0.0005	1.466e-05	0.0006	0.0096	0.0003	0.0003	0.0002	0.0005	0.0100	0.0002	0.0002	0.0077	0.0069	0	0	0	0	0	0	0	1.471e-05	0	0.0100	0.298	0.15201	T	0.544	0.12491	T	0.908	0.50127	P	0.922	0.65739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.265	0.31966	L	0.97	0.42502	T	-0.06	0.08340	N	0.889	0.90704	-0.9461	0.41632	T	0.191	0.54242	T	10	0.0077798367	0.00177	T	.	.	.	0.197	0.47942	0.276	0.22845	0.360112713275	0.35619	0.5940818070505658	0.59338	0.291448477359	0.31552	0.646333456039	0.59465	T	0.014836	0.12555	T	-0.259948	0.12906	T	-0.138212	0.60274	T	0.0509165299388495	0.05659	T	0.953605	0.82243	D	0.26965144	0.50037	0.15193167	0.35768	0.26965144	0.50037	0.15193167	0.35768	-2.608	0.07062	T	.	.	0.513	0.67631	A	.;.;.;.	.;.;.;.	3.402716	0.47165	22.4	0.99684782110287684	0.79507	0.96610	0.70005	D	AEFDBHCI	0.768471	0.70402	D	0.293575706255489	0.55822	3.746341	0.405038622952016	0.61878	4.394239	0.999999999999242	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.37	5.37	0.76949	5.901000	0.69600	5.950000	0.51632	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.107	0.93285	675	0.60470	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	307.27	33	chr1	211967967	.	C	G	307.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.259;DP=177;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=1.4;SOR=0.61	GT:AD:DP:GQ:PL	0/1:21,14:35:99:317,0,517	5	0	1	1
chr1	212797191	212797191	C	A	exonic	TATDN3	.	nonsynonymous SNV	TATDN3:NM_001042552:exon4:c.C253A:p.L85I,TATDN3:NM_001042553:exon4:c.C253A:p.L85I,TATDN3:NM_001146169:exon4:c.C253A:p.L85I,TATDN3:NM_001146170:exon4:c.C253A:p.L85I,TATDN3:NM_001146171:exon4:c.C253A:p.L85I,TATDN3:NM_001363589:exon4:c.C253A:p.L85I,TATDN3:NM_001363590:exon4:c.C253A:p.L85I	.	433	1067	22	0	0	22	0.0102041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00326930800444	0.0007	0.000798722	0.0018	0	0.0007	0	0	0.0017	0.0011	0.0058	0.0015459	239	154602	rs148528899	0.0010	0.0010	0.0009	0.0011	0.0069	0.0010	0.0009	0.0052	0.0046	2.99e-05	0.0011	0.0201	0	0	0.0069	0.0003	0.0022	0.0043	0.0011	0.0011	0.0012	0.0011	0.0041	0.0010	0.0009	0.0027	0.0023	7.22e-05	0	0.0006	0.0204	0	0	0.0170	0.0008	0.0033	0.0041	0.141	0.27663	T	0.347	0.38160	T	0.009	0.15093	B	0.048	0.24975	B	0.020455	0.27037	N	0.295883	0.996626	0.81001	D	1.795	0.47270	L	.	.	.	-0.81	0.23808	N	0.394	0.50958	-1.0238	0.22476	T	0.152	0.48014	T	9	0.006371498	0.00144	T	0.003269	0.07237	T	0.082	0.23913	.	.	0.0954503805726	0.09146	0.623218878501826	0.62254	0.174648314704	0.19666	0.499033182859	0.38693	T	0.008201	0.16921	T	-0.350873	0.04673	T	-0.275553	0.47257	T	0.0114096309289719	0.00170	T	0.809319	0.48487	T	0.07326356	0.16360	0.0474131	0.06822	0.07326356	0.16359	0.0474131	0.06822	-5.271	0.39933	T	.	.	0.124	0.39562	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.979270	0.25141	16.66	0.97411810932922427	0.33830	0.68581	0.33856	D	AEFBI	0.187202	0.31449	N	-0.214285823766396	0.32546	1.836683	-0.165880246943213	0.32802	1.869798	0.988914815572001	0.31667	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.66	1.81	0.24139	1.819000	0.38660	1.802000	0.28890	-0.177000	0.10537	0.987000	0.36337	0.989000	0.31174	0.995000	0.73285	0.0:0.1646:0.1562:0.6793	4.966	0.13438	844	0.36711	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007560	0.010101	0.006793	0.005848	0.000000	0.000000	0.000000	0.018939	0.07143	1110.53	33	chr1	212797191	.	C	A	1110.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.203;DP=286;ExcessHet=0;FS=3.865;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=-1.239;SOR=0.373	GT:AD:DP:GQ:PL	0/1:46,51:97:99:1121,0,1058	6	0	1	0
chr1	214334267	214334267	G	T	exonic	SMYD2	.	nonsynonymous SNV	SMYD2:NM_020197:exon11:c.G1180T:p.G394C	.	429	1061	32	0	0	32	0.0148561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	0.0246475474506	0.0012	0.00179712	0.0024	0.0004	0.0018	0	0	0.0016	0.0022	0.0095	0.0021927	339	154602	rs141849218	0.0016	0.0016	0.0013	0.0019	0.0104	0.0015	0.0015	0.0098	0.0096	0.0003	0.0013	0.0003	0	7.49e-05	0.0074	0.0011	0.0024	0.0104	0.0011	0.0011	0.0010	0.0012	0.0075	0.0009	0.0009	0.0055	0.0049	0.0003	0	0.0011	0	0.0002	0	0.0068	0.0013	0.0024	0.0075	0.113	0.28772	T	0.004	0.74150	D	0.989	0.62824	D	0.839	0.60107	P	0.000000	0.84330	D	0.045767	0.999984	0.81001	D	2.485	0.72352	M	-0.08	0.63911	T	-3.57	0.68999	D	0.686	0.69213	-0.4774	0.69462	T	0.384	0.73988	T	10	0.011113286	0.00244	T	0.024648	0.47637	T	0.347	0.66863	.	.	0.853526577216	0.85211	0.6862089810114786	0.68560	0.997451953507	0.74294	0.495258688927	0.38167	T	0.117304	0.43730	T	-0.208229	0.19630	T	-0.0639211	0.66057	T	0.0421018828007218	0.04074	T	0.920408	0.71216	D	0.7846071	0.82938	0.47182155	0.69378	0.7846071	0.82940	0.47182155	0.69378	-5.469	0.41578	T	.	.	0.398	0.59438	A	.	.	4.965701	0.82135	27.7	0.99699454157993372	0.80522	0.94898	0.62713	D	AEFDGBCIJ	0.864674	0.78354	D	0.721358354184708	0.81032	7.428307	0.751209301204187	0.86247	8.828641	0.999999999999031	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.688494	0.62686	0	0.645665	0.59343	0	.	.	6.17	6.17	0.99707	5.045000	0.64027	9.999000	0.83031	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.879	0.99870	912	0.21483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.005051	0.004076	0.002924	0.000000	0.000000	0.018293	0.000000	0.07143	1225.44	109	chr1	214334267	.	G	T	1225.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.724;DP=306;ExcessHet=0;FS=1.539;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-0.109;SOR=0.873	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1115	6	0	1	0
chr1	214645259	214645259	T	C	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.T5689C:p.F1897L	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00980712402638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.14843	T	0.433	0.13595	T	.	.	.	.	.	.	0.387254	0.13306	N	0.622917	0.996025	0.23136	N	.	.	.	1.98	0.21865	T	-1.74	0.41239	N	0.163	0.17140	-0.9785	0.35345	T	0.033	0.14203	T	10	0.07286334	0.10934	T	0.009807	0.25586	T	0.078	0.22779	.	.	0.101711395817	0.09552	0.1427222850839343	0.14195	0.0596198842535	0.06628	0.393260717392	0.24128	T	.	.	.	-0.260978	0.12786	T	-0.612653	0.11770	T	0.274424522710853	0.23935	T	0.527047	0.17380	T	0.08159175	0.18754	0.074692726	0.16368	0.08159175	0.18754	0.074692726	0.16367	-2.043	0.03347	T	.	.	0.785	0.76596	P	.	.	1.885814	0.23953	16.21	0.97445370788974561	0.34002	0.87114	0.46557	D	AEFBCI	0.219672	0.34452	N	-0.641218653764995	0.17716	0.9139967	-0.539133036135939	0.21094	1.139528	0.992379880728038	0.32817	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.45	4.32	0.50899	3.081000	0.49818	1.110000	0.24149	0.644000	0.52426	1.000000	0.71638	0.016000	0.20520	0.957000	0.51019	0.0:0.1458:0.0:0.8542	9.207	0.36459	901	0.24189	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	161.88	42	chr1	214645259	.	T	C	161.88	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.76;DP=613;ExcessHet=1.383;FS=138.726;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=1.99;SOR=9.23	GT:AD:DP:GQ:PL	0/1:152,31:183:13:13,0,3293	3	0	3	1
chr1	214645556	214645556	A	G	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.A5986G:p.S1996G	Stromme syndrome, Autosomal recessive	421	1098	2	1	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00307557025383	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1420651187	4.104e-06	4.104e-06	5.445e-06	2.75e-06	5.396e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.402	0.10412	T	0.394	0.15305	T	.	.	.	.	.	.	0.506143	0.05120	N	1.366580	1	0.08975	N	.	.	.	0.78	0.49358	T	-1.06	0.27669	N	0.103	0.08646	-1.0330	0.19490	T	0.053	0.22655	T	10	0.043306947	0.03165	T	0.003076	0.06636	T	0.057	0.16321	.	.	0.0482279557977	0.04254	0.015535985324263656	0.01509	0.0497193645507	0.05451	0.249759674072	0.03742	T	.	.	.	-0.314934	0.07320	T	-0.674671	0.07313	T	0.0314089257149707	0.02212	T	0.489851	0.15048	T	0.026220506	0.01653	0.033440735	0.02239	0.026220506	0.01653	0.033440735	0.02239	-4.957	0.36370	T	.	.	0.056	0.00496	B	.	.	-0.330764	0.02486	0.290	0.60498897640054228	0.06478	0.01885	0.05793	N	AEFBCI	0.021908	0.01031	N	-1.42816029369839	0.02394	0.105666	-1.40199971513235	0.03232	0.150352	0.834263486472987	0.24748	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.23	-2.13	0.06745	-0.281000	0.08489	0.053000	0.14027	-0.168000	0.11412	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4817:0.0:0.5183:0.0	13.061	0.58416	901	0.24189	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	780.44	46	chr1	214645556	.	A	G	780.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.071;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.97;ReadPosRankSum=1.39;SOR=0.763	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1088	6	0	1	0
chr1	215671031	215671031	C	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon64:c.G14074A:p.G4692R	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	0	1493	28	1	0	30	0.00994695	.	.	YES	57589	Usher_syndrome_type_2A|Retinitis_pigmentosa_39|not_specified|not_provided|Retinitis_pigmentosa	MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.433	0.56446389033	0.0048	0.00219649	0.0048	0.0014	0.0022	0	0.0023	0.0072	0.0011	0.0027	0.0050517	781	154602	rs45549044	0.0067	0.0067	0.0068	0.0066	0.0080	0.0066	0.0066	0.0078	0.0078	0.0012	0.0022	0.0004	5.038e-05	0.0027	0.0052	0.0080	0.0059	0.0032	0.0042	0.0042	0.0045	0.0039	0.0075	0.0039	0.0038	0.0069	0.0067	0.0015	0.0055	0.0014	0	0	0.0016	0.0102	0.0075	0.0043	0.0035	0.041	0.41915	D	0.006	0.70582	D	1.0	0.90584	D	0.987	0.77487	D	0.000996	0.40743	U	0.000000	0.972881	0.38981	D	1.63	0.41750	L	0.46	0.56281	T	-3.9	0.72932	D	0.751	0.75009	-0.7756	0.56548	T	0.190	0.54213	T	10	0.01668179	0.00353	T	0.564464	0.96037	D	0.433	0.73879	0.764	0.89213	0.873267043112	0.87203	0.6539209591646689	0.65328	0.228862989454	0.25439	0.423841416836	0.28365	T	0.313544	0.68529	T	-0.106726	0.35311	T	0.0875454	0.76081	D	0.0187997115715382	0.00591	T	0.859714	0.55187	D	0.2388664	0.46770	0.30004802	0.56038	0.2388664	0.46770	0.30004802	0.56037	-10.165	0.74893	D	0.7067154624936425	0.78641	0.345	0.56218	A	.	.	3.947307	0.57808	23.9	0.99580028881389804	0.72921	0.82560	0.41771	D	AEFI	0.265091	0.38229	N	0.186135652831798	0.50535	3.242436	0.102961599110356	0.44699	2.746691	0.311064590805169	0.19287	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.09	4.17	0.48303	3.484000	0.52965	5.915000	0.51078	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	0.796000	0.37562	0.0:0.9246:0.0:0.0754	13.484	0.60812	656	0.62345	Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004532	0.000000	0.001359	0.005848	0.000000	0.008621	0.003049	0.007576	0.07143	642.45	33	chr1	215671031	.	C	T	642.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.15;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.92;ReadPosRankSum=-2.691;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1202	6	0	1	0
chr1	215680331	215680331	T	C	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon62:c.A12112G:p.T4038A	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	0	1516	5	1	0	7	0.00230339	.	.	.	858903	Retinitis_pigmentosa_39|Usher_syndrome_type_2A|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.243	0.322929554422	.	.	3.299e-05	0	0	0	0	5.996e-05	0	0	2.59e-05	4	154602	rs754979740	4.583e-05	4.583e-05	5.717e-05	3.438e-05	0.0010	3.661e-05	3.347e-05	0.0005	0.0003	0	0	0	0	0	0.0010	4.946e-05	9.934e-05	0	2.629e-05	2.627e-05	2.57e-05	2.691e-05	6.551e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.551e-05	0	0	0	0	4.41e-05	0	0	0.137	0.25979	T	0.058	0.46182	T	0.992	0.64738	D	0.887	0.62952	P	0.000296	0.46274	D	0.000000	0.526296	0.31528	N	1.76	0.45711	L	0.4	0.57261	T	-2.37	0.52289	N	0.094	0.07398	-0.7363	0.58642	T	0.216	0.57745	T	10	0.61584055	0.67700	D	0.32293	0.91528	D	0.243	0.54921	.	.	0.837083782604	0.83553	0.4737459772398402	0.47293	0.0335984887463	0.03527	0.322042942047	0.13731	T	0.095618	0.39657	T	-0.157273	0.27182	T	-0.307322	0.43947	T	0.133371478305574	0.15690	T	0.552645	0.19087	T	0.14400096	0.33072	0.17915915	0.40633	0.14400096	0.33072	0.17915915	0.40632	-5.196	0.38901	T	0.457450626276204	0.54020	0.073	0.04558	B	.	.	0.802268	0.11727	8.307	0.90258052451502069	0.19528	0.90504	0.51735	D	AEFBI	0.260781	0.37886	N	0.0634956574525399	0.44764	2.744671	-0.0032997096804105	0.39566	2.347937	0.0170806997554493	0.12909	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.26	5.26	0.73479	1.880000	0.39263	0.137000	0.15122	0.665000	0.62972	0.963000	0.33788	0.000000	0.08366	0.088000	0.17685	0.0:0.0:0.0:1.0	15.186	0.72687	656	0.62345	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	762.49	69	chr1	215680331	.	T	C	762.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.897;DP=244;ExcessHet=0;FS=4.707;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-1.132;SOR=0.789	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1079	6	0	1	0
chr1	215728209	215728209	C	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon61:c.G11887A:p.A3963T	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	1199710	Retinitis_pigmentosa_39|Usher_syndrome_type_2A	MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.220	0.448362407899	.	0.000199681	1.648e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs541566194	1.026e-05	1.026e-05	8.167e-06	1.238e-05	0.0002	6.16e-06	4.89e-06	7.123e-05	5.481e-05	0	0	0	0	0	0.0002	0	4.967e-05	0.0001	6.567e-06	6.561e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.018	0.50676	D	0.0	0.92824	D	1.0	0.90584	D	0.96	0.70309	D	0.000526	0.43581	D	0.000000	0.999999	0.58761	D	2.73	0.79844	M	0.5	0.55608	T	-2.28	0.50830	N	0.476	0.51137	-0.2873	0.75340	T	0.397	0.74937	T	10	0.5517782	0.64296	D	0.448362	0.94295	D	0.220	0.51569	0.253	0.19223	0.943251905954	0.94266	0.4370003679344988	0.43617	0.231425101248	0.25697	0.368225187063	0.20577	T	0.142744	0.47849	T	-0.136529	0.30444	T	-0.252363	0.49583	T	0.939245700836182	0.61054	D	0.824018	0.48536	T	0.1734728	0.38098	0.19529459	0.43199	0.1734728	0.38097	0.19529459	0.43198	-7.249	0.55832	T	0.7964456293029578	0.87403	0.14	0.30686	B	.	.	3.466621	0.48348	22.6	0.99898181450286294	0.97048	0.97987	0.78661	D	AEFBI	0.733125	0.67966	D	0.762875788176582	0.83740	8.09744	0.718514951973846	0.83786	8.113735	0.999999505122598	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.53	5.53	0.82530	4.722000	0.61651	3.396000	0.38099	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.0:1.0:0.0:0.0	19.456	0.94882	620	0.66037	Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1186.49	79	chr1	215728209	.	C	T	1186.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.456;DP=271;ExcessHet=0;FS=0.868;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=-1.537;SOR=0.591	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	6	0	1	0
chr1	217774496	217774496	C	T	exonic	SPATA17	.	nonsynonymous SNV	SPATA17:NM_001375655:exon7:c.C682T:p.R228W,SPATA17:NM_138796:exon7:c.C682T:p.R228W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.0251522981211	.	.	4.956e-05	0	0.0003	0	0	3.005e-05	0	6.061e-05	5.17e-05	8	154602	rs768392685	4.242e-05	4.241e-05	3.54e-05	4.951e-05	0.0002	3.377e-05	3.065e-05	0.0001	0.0001	0.0001	0.0002	0	2.52e-05	1.873e-05	0	3.777e-05	1.656e-05	2.319e-05	1.315e-05	1.97e-05	2.571e-05	0	0.0001	2.18e-06	8.2e-07	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	0.018	0.50676	D	0.012	0.63918	D	0.993	0.65571	D	0.528	0.48482	P	0.765633	0.09587	N	0.894418	1	0.08975	N	2.28	0.64929	M	0.81	0.48460	T	-2.78	0.58896	D	0.308	0.34767	-0.8624	0.51090	T	0.181	0.52874	T	10	0.12647781	0.24044	T	0.025152	0.48129	D	0.135	0.36572	.	.	0.191931220699	0.18833	0.3130328684571784	0.31216	0.114398664819	0.12898	0.237875714898	0.02602	T	0.060184	0.31317	T	-0.404324	0.02168	T	-0.508041	0.21517	T	0.288205474615097	0.24514	T	0.79742	0.44137	T	0.15765576	0.35512	0.12356756	0.29796	0.15765576	0.35512	0.12356756	0.29795	-5.817	0.44722	T	.	.	0.093	0.14062	B	.	.	4.218626	0.63791	24.6	0.9983414508459868	0.91542	0.19495	0.20683	N	AEFI	0.167737	0.29444	N	0.0689687537118001	0.45019	2.765604	-0.0356228272342286	0.38118	2.241279	4.71699142423209E-4	0.07095	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.45	5.45	0.79688	1.138000	0.31103	1.380000	0.26027	0.599000	0.40250	0.001000	0.13787	0.001000	0.17328	0.872000	0.41544	0.2719:0.7281:0.0:0.0	12.74	0.56620	768	0.49510	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr1	217774496	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	6	1	0	0
chr1	220761717	220761717	C	T	exonic	MTARC2	.	nonsynonymous SNV	MTARC2:NM_001317338:exon3:c.C506T:p.T169I,MTARC2:NM_001331042:exon3:c.C506T:p.T169I,MTARC2:NM_017898:exon3:c.C506T:p.T169I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.038503309495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.003	0.76473	D	0.991	0.73220	D	0.965	0.76457	D	0.002275	0.36887	N	0.232358	0.990291	0.41128	D	3.615	0.93875	H	2.16	0.19166	T	-5.06	0.83027	D	0.72	0.72209	-0.5765	0.65756	T	0.177	0.52131	T	10	0.94394475	0.93719	D	0.038503	0.58263	D	0.273	0.58883	0.835	0.94294	0.517104213562	0.51352	0.7665983862055217	0.76608	0.929494865286	0.71766	0.488572478294	0.37240	T	0.206825	0.56628	T	-0.0490393	0.44594	T	-0.308218	0.43850	T	0.963137500628639	0.66570	D	0.854215	0.54691	D	0.40384248	0.60997	0.48591194	0.70245	0.40384248	0.60998	0.48591194	0.70245	-10.681	0.77879	D	.	.	0.706	0.73186	P	.;.;.	.;.;.	3.225770	0.43974	21.8	0.99833315662400746	0.91456	0.76071	0.37282	D	AEFBI	0.617694	0.60378	D	0.313945732271386	0.56863	3.851886	0.184517936124973	0.48997	3.108501	0.353084430384048	0.19702	0.706548	0.73137	0	0.627178	0.54094	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.67	2.58	0.30011	1.334000	0.33433	1.732000	0.28335	-0.217000	0.08171	0.934000	0.32416	0.937000	0.28687	0.984000	0.60418	0.0:0.5828:0.4172:0.0	14.635	0.68284	583	0.69484	.;MOSC, N-terminal beta barrel;MOSC, N-terminal beta barrel	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	70.44	34	chr1	220761717	.	C	T	70.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=1.83;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1360	6	0	1	0
chr1	220796753	220796753	T	A	exonic	MTARC1	.	nonsynonymous SNV	MTARC1:NM_022746:exon3:c.T560A:p.M187K	.	431	1082	8	0	1	9	0.00368324	.	.	.	718669	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.150	.	0.0079	0.00219649	0.0088	0.0020	0.0015	0	0.0124	0.0132	0.0049	0.0039	0.008344	1290	154602	rs17850677	0.0095	0.0095	0.0097	0.0093	0.0109	0.0094	0.0093	0.0108	0.0107	0.0014	0.0019	0.0046	0	0.0098	0.0021	0.0109	0.0092	0.0045	0.0062	0.0062	0.0066	0.0058	0.0104	0.0058	0.0057	0.0097	0.0095	0.0018	0	0.0038	0.0046	0	0.0070	0	0.0104	0.0028	0.0015	0.01	0.56456	D	0.134	0.34241	T	0.978	0.58756	D	0.71	0.54502	P	0.000015	0.62929	D	0.068220	0.999951	0.52396	D	2.39	0.68882	M	2.29	0.17113	T	-5.59	0.86527	D	0.722	0.72388	-1.0749	0.08369	T	0.063	0.26314	T	10	0.0072243214	0.00164	T	.	.	.	0.150	0.39571	.	.	0.526943034955	0.52341	0.7296297274549781	0.72907	0.299837654021	0.32349	0.510270059109	0.40261	T	0.087097	0.37869	T	-0.445097	0.01207	T	-0.401739	0.33181	T	0.0621241605659562	0.07499	T	0.842916	0.51943	T	0.64748734	0.75230	0.61742514	0.77724	0.64748734	0.75231	0.61742514	0.77725	-5.242	0.39366	T	.	.	0.455	0.62474	A	.	.	3.958772	0.58049	23.9	0.98413991910079046	0.41212	0.96031	0.67221	D	AEFDBHCI	0.901015	0.84722	D	0.473889084548162	0.65572	4.839175	0.415118658830546	0.62505	4.467109	0.929143261230913	0.26957	0.743674	0.98306	0	0.59043	0.45803	0	0.630245	0.45026	0	0.567892	0.33627	0	.	.	4.82	3.7	0.41607	4.943000	0.63255	5.638000	0.49139	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.745000	0.35611	0.0:0.0875:0.0:0.9125	8.787	0.33987	550	0.72197	Molybdenum cofactor sulfurase, C-terminal	RP11-295M18.6|MARC1	Artery_Tibial|Heart_Left_Ventricle	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	3129.44	39	chr1	220796753	.	T	A	3129.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.23;DP=425;ExcessHet=0;FS=1.042;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=0.764;SOR=0.612	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	6	0	1	0
chr1	222547818	222547818	C	T	exonic	HHIPL2	.	nonsynonymous SNV	HHIPL2:NM_024746:exon1:c.G227A:p.R76H	.	427	1090	5	0	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0068	0.0071885	0.0027	0.0198	0.0054	0	0	0.0009	0.0078	0.0002	0.0025097	388	154602	rs61740543	0.0012	0.0012	0.0013	0.0010	0.0209	0.0011	0.0011	0.0197	0.0191	0.0209	0.0046	0.0059	2.519e-05	0	0.0049	0.0004	0.0027	0.0001	0.0065	0.0065	0.0068	0.0062	0.0206	0.0062	0.0061	0.0194	0.0190	0.0206	0	0.0050	0.0078	0	0	0	0.0004	0.0057	0	0.13	0.26740	T	0.177	0.29740	T	0.001	0.07471	B	0.009	0.14300	B	0.432717	0.12728	N	0.706664	1	0.08975	N	0.64	0.16041	N	1.81	0.25182	T	0.55	0.02721	N	0.043	0.01577	-1.0441	0.16089	T	0.012	0.04416	T	10	0.003047675	0.00050	T	.	.	.	0.036	0.09122	.	.	0.0401082797425	0.02173	0.2261501864060996	0.22530	0.216145139053	0.24139	0.266880214214	0.05737	T	0.001029	0.00556	T	-0.677754	0.00049	T	-0.730067	0.04324	T	0.00688368849978145	0.00078	T	0.712529	0.32403	T	0.030045254	0.02601	0.05429885	0.09312	0.030045254	0.02601	0.05429885	0.09311	-4.617	0.32385	T	.	.	0.062	0.01233	B	.	.	0.073485	0.04813	1.419	0.82263136058016106	0.14102	0.01621	0.05236	N	AEFBCI	0.027693	0.02306	N	-1.23347345471818	0.04522	0.204266	-1.2990431563237	0.04444	0.2096319	0.999987454212537	0.51787	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.93	-5.61	0.02291	-0.111000	0.10778	-4.129000	0.02326	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.095000	0.18041	0.1077:0.2815:0.1094:0.5014	2.814	0.05116	905	0.23532	Folate receptor-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.025253	0.002717	0.008772	0.000000	0.000000	0.003049	0.000000	0.08333	1017.27	77	chr1	222547818	.	C	T	1017.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.963;DP=252;ExcessHet=0;FS=1.908;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=0.486;SOR=0.538	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1207	5	0	1	1
chr1	223112550	223112550	T	G	exonic	TLR5	.	nonsynonymous SNV	TLR5:NM_003268:exon6:c.A482C:p.Y161S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00640976719799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.27080	T	0.334	0.18340	T	.	.	.	.	.	.	0.434613	0.04724	N	1.291250	1	0.08975	N	.	.	.	0.67	0.52187	T	0.22	0.04694	N	0.036	0.01577	-0.9750	0.36125	T	0.037	0.15856	T	10	0.06606588	0.09006	T	0.00641	0.16870	T	0.044	0.11924	0.366	0.37361	0.158396225186	0.15383	0.23073472903134848	0.22988	0.0729793403314	0.08176	0.269599676132	0.06089	T	.	.	.	-0.345031	0.05047	T	-0.73339	0.04175	T	0.138979956507683	0.16187	T	0.732627	0.34815	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00254	B	.;.;.;.	.;.;.;.	0.551406	0.09200	5.982	0.86053432104675953	0.16283	0.06196	0.12181	N	AEFGBI	0.092987	0.18818	N	-1.38130947171505	0.02813	0.1247724	-1.36316290925927	0.03653	0.1708542	0.965331866392023	0.28824	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.03	-8.29	0.00884	-0.397000	0.07329	-0.334000	0.09867	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.951000	0.49849	0.0:0.1845:0.6295:0.186	12.454	0.55031	760	0.50470	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2051.49	38	chr1	223112550	.	T	G	2051.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.442;DP=363;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=0.231;SOR=0.678	GT:AD:DP:GQ:PL	0/1:75,85:160:99:2062,0,1907	6	0	1	0
chr1	225085608	225085608	A	-	exonic	DNAH14	.	frameshift deletion	DNAH14:NM_001367479:exon21:c.3392delA:p.M1133Cfs*16	.	455	1039	27	1	0	29	0.0137636	.	.	.	2816092	not_provided|DNAH14-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0028	0.00319489	0.0060	0	0.0049	0	0.0018	0.0070	0.0083	0.0078	0.0003074	8	26028	rs555051718	0.0024	0.0023	0.0021	0.0027	0.0130	0.0023	0.0023	0.0106	0.0097	0.0003	0.0028	0.0133	0	0.0010	0.0130	0.0018	0.0035	0.0076	0.0023	0.0023	0.0023	0.0023	0.0079	0.0021	0.0020	0.0059	0.0052	0.0003	0	0.0048	0.0124	0	0.0013	0.0170	0.0022	0.0066	0.0079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1594.5	33	chr1	225085607	.	GA	G	1594.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.749;DP=317;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=-1.589;SOR=0.722	GT:AD:DP:GQ:PL	0/1:60,61:121:99:1605,0,1541	6	0	1	0
chr1	225152708	225152708	G	A	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon33:c.G5021A:p.G1674E	.	430	1073	19	0	0	19	0.00877598	.	.	.	2816094	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.043	.	0.0064	0.00599042	0.0082	0.0009	0	0	0.0086	0.0094	0.0125	0.0096	0.0026649	412	154602	rs17578819	0.0088	0.0085	0.0087	0.0090	0.0094	0.0087	0.0087	0.0093	0.0092	0.0012	0.0052	0.0089	2.804e-05	0.0109	0.0088	0.0094	0.0078	0.0090	0.0072	0.0072	0.0072	0.0072	0.0131	0.0069	0.0067	0.0105	0.0096	0.0015	0.0022	0.0057	0.0107	0.0002	0.0115	0.0136	0.0104	0.0080	0.0131	0.008	0.58626	D	0.025	0.67890	D	0.07	0.23866	B	0.033	0.22329	B	0.089842	0.20406	U	0.277746	0.997461	0.22648	N	0.345	0.11182	N	3.03	0.08898	T	0.59	0.02638	N	0.23	0.33030	-0.9702	0.37157	T	0.010	0.03627	T	10	0.0049212873	0.00105	T	.	.	.	0.043	0.11576	.	.	0.265929055128	0.26215	.	.	.	.	0.26245906949	0.05187	T	0.019432	0.15482	T	-0.550002	0.00292	T	-0.547221	0.17593	T	0.0226230662212863	0.00979	T	0.910909	0.68443	D	0.100617066	0.23759	0.1736091	0.39699	0.100617066	0.23759	0.1736091	0.39698	-5.505	0.43738	T	.	.	0.124	0.25946	B	.;.;.	.;.;.	1.812490	0.23033	15.86	0.98310993636074528	0.40144	0.66843	0.33220	D	AEFBI	0.198761	0.32560	N	-0.473422088152864	0.22955	1.229275	-0.342050645116875	0.26754	1.479931	0.770386907614223	0.23662	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.89	4.03	0.46115	2.503000	0.45067	2.622000	0.33640	0.634000	0.51959	0.983000	0.35670	0.153000	0.23196	0.142000	0.20019	0.1469:0.0:0.8531:0.0	11.488	0.49613	641	0.64016	Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1;.;.	.	.	.	.	rs17578819	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011450	0.021505	0.017241	0.009009	0.083333	0.000000	0.012048	0.000000	0.07143	1526.44	35	chr1	225152708	.	G	A	1526.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3;DP=288;ExcessHet=0;FS=0.794;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=-1.085;SOR=0.604	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1185	6	0	1	0
chr1	225272971	225272971	T	C	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon52:c.T7856C:p.L2619P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.329	0.162410845136	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1337087609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.009	0.57480	D	0.001	0.83351	D	1.0	0.90584	D	0.986	0.76916	D	.	.	.	.	0.997032	0.81001	D	.	.	.	0.61	0.53516	T	-5.59	0.86527	D	0.723	0.72477	-0.4258	0.71203	T	0.298	0.66914	T	8	0.7847483	0.78151	D	0.162411	0.84199	D	0.329	0.65126	0.625	0.76028	0.59904029974	0.59584	.	.	.	.	0.593789041042	0.52029	T	.	.	.	-0.0702996	0.41280	T	-0.338757	0.40484	T	0.987619815098272	0.78075	D	0.487251	0.14908	T	.	.	.	.	.	.	.	.	-11.334	0.81458	D	.	.	.	.	.	.;.	.;.	3.967637	0.58234	24.0	0.99888675044311481	0.96359	0.87100	0.46539	D	AEFBI	0.783330	0.71434	D	0.522040672957881	0.68396	5.21128	0.488785652105997	0.67244	5.058299	0.0174819780210259	0.12956	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.87	4.87	0.62877	4.694000	0.61446	7.511000	0.59621	0.620000	0.51751	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:0.0:1.0	13.733	0.62284	604	0.67577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr1	225272971	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	6	1	0	0
chr1	225988203	225988203	T	C	exonic	SDE2	.	nonsynonymous SNV	SDE2:NM_152608:exon6:c.A827G:p.H276R	.	427	1042	52	1	0	54	0.0252572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	0.0086	0.00579073	0.0077	0.0053	0.0058	0	0.0018	0.0090	0.0122	0.0117	0.007529	1164	154602	rs41268719	0.0088	0.0088	0.0086	0.0089	0.0321	0.0086	0.0086	0.0283	0.0268	0.0077	0.0067	0.0189	5.038e-05	0.0022	0.0321	0.0088	0.0102	0.0124	0.0078	0.0078	0.0079	0.0077	0.0101	0.0074	0.0073	0.0081	0.0079	0.0065	0.0088	0.0093	0.0222	0	0.0011	0.0238	0.0087	0.0137	0.0101	0.307	0.14159	T	0.548	0.09489	T	0.0	0.02946	B	0.0	0.01387	B	0.147789	0.02938	N	1.557430	1	0.08975	N	0	0.06538	N	1.02	0.40749	T	0.2	0.04861	N	0.061	0.03283	-1.0637	0.10855	T	0.031	0.13330	T	10	0.002553016	0.00039	T	.	.	.	0.004	0.00165	.	.	0.101711395817	0.09552	0.047153908634088824	0.04658	0.218815070265	0.24419	0.195133239031	0.00329	T	0.001554	0.00995	T	-0.708939	0.00032	T	-0.780087	0.02450	T	0.002145647428267	0.00022	T	0.120588	0.00931	T	0.019646542	0.00500	0.022527758	0.00275	0.019646542	0.00500	0.022527758	0.00275	-2.56	0.06205	T	.	.	0.060	0.00890	B	.	.	-0.802183	0.01102	0.050	0.10180873463326895	0.00122	0.07098	0.13124	N	AEFDBCI	0.035649	0.04624	N	-2.26443823681653	0.00055	0.002349059	-2.25596343358124	0.00084	0.003677418	0.999806860516576	0.43304	0.706548	0.73137	0	0.779548	0.99637	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.57	-5.89	0.02093	-0.785000	0.04735	-1.633000	0.05020	-1.597000	0.00898	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.243:0.2402:0.4357:0.0811	3.857	0.08487	754	0.51307	.	H3F3A	Colon_Transverse	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.026687	0.040404	0.028533	0.032164	0.000000	0.025862	0.015244	0.018939	0.07143	154.44	33	chr1	225988203	.	T	C	154.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.054;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=2.67;SOR=0.814	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1341	6	0	1	0
chr1	226071457	226071457	G	A	exonic	H3-3A	.	nonsynonymous SNV	H3-3A:NM_002107:exon4:c.G389A:p.R130H,H3-3A:NM_001379043:exon5:c.G389A:p.R130H,H3-3A:NM_001379045:exon5:c.G389A:p.R130H,H3-3A:NM_001379046:exon5:c.G389A:p.R130H,H3-3A:NM_001379047:exon5:c.G389A:p.R130H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.383	0.0426107701734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.739e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.41913	T	0.001	0.07471	B	0.002	0.06944	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.53	0.73802	M	-0.91	0.75001	T	-2.72	0.57920	D	0.687	0.69300	-0.6403	0.63133	T	0.332	0.69919	T	9	0.42779562	0.57290	T	0.042611	0.60557	D	0.383	0.70029	.	.	0.963756557137	0.96336	0.9834881440895284	0.98340	2.22764064689	0.95911	0.88280916214	0.94336	D	0.184073	0.53661	T	0.240662	0.77723	D	0.107918	0.77434	D	0.982994854450226	0.74830	D	.	.	.	0.9201298	0.93261	0.8204727	0.89569	0.9201298	0.93262	0.8204727	0.89570	-11.874	0.84231	D	.	.	.	.	.	.;.;.	.;.;.	5.039124	0.83867	28.2	0.98932752489192832	0.48788	0.98221	0.80666	D	AEFBCI	0.915283	0.87984	D	0.291982467883368	0.55741	3.738277	0.487752188946655	0.67176	5.049263	0.999999999999826	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.83	5.83	0.93059	9.886000	0.98550	8.442000	0.77197	0.668000	0.69082	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.563	0.99337	671	0.60868	Histone H2A/H2B/H3;Histone H2A/H2B/H3;Histone H2A/H2B/H3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	21	chr1	226071457	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=160;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=50.99;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1219	6	1	0	0
chr1	228259762	228259762	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001271223:exon17:c.G5123A:p.R1708H	.	0	1489	33	0	0	33	0.0109598	.	.	.	2816140	not_provided|OBSCN-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.014	.	0.0080	0.00239617	0.0084	0.0018	0.0030	0	0.0036	0.0133	0.0056	0.0024	0.0078783	1218	154602	rs147633098	0.0093	0.0093	0.0093	0.0093	0.0220	0.0092	0.0091	0.0189	0.0177	0.0016	0.0045	0.0283	0.0001	0.0060	0.0220	0.0102	0.0099	0.0026	0.0067	0.0067	0.0071	0.0063	0.0103	0.0064	0.0062	0.0097	0.0094	0.0017	0.0241	0.0046	0.0202	0	0.0051	0.0272	0.0103	0.0071	0.0017	.	.	.	0.081	0.41742	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.20609	N	.	.	.	3.56	0.04696	T	.	.	.	0.073	0.04668	-0.9723	0.36712	T	0.011	0.04321	T	6	0.003629744	0.00066	T	.	.	.	.	.	.	.	0.256793551483	0.25290	0.16994627065651727	0.16914	0.115633920596	0.13049	0.202615946531	0.00537	T	.	.	.	-0.695139	0.00039	T	-0.760908	0.03080	T	0.00463822941397851	0.00050	T	0.20008	0.02257	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	-0.010789	0.04210	1.027	0.81329423621141439	0.13632	0.01331	0.04588	N	AEFDBI	0.063747	0.12339	N	-0.793613011190379	0.13475	0.6641176	-0.938894624292241	0.11182	0.5680889	1.9642407017775E-4	0.05898	0.660377	0.49826	0	0.573888	0.26702	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	5.25	-2.54	0.05941	-1.658000	0.02079	-20.000000	0.00162	-0.887000	0.02411	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.6034:0.0:0.3966:0.0	12.965	0.57880	452	0.79239	Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype	TRIM11|RP11-245P10.4|TRIM17|GUK1|TRIM11	Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Skin_Sun_Exposed_Lower_leg	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	1490.44	105	chr1	228259762	.	G	A	1490.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.057;DP=293;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-1.061;SOR=0.668	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1382	6	0	1	0
chr1	228305272	228305272	A	G	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001271223:exon54:c.A14416G:p.R4806G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.128516760158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	0.995185	0.81001	D	.	.	.	-0.3	0.67874	T	.	.	.	0.385	0.42639	-0.6629	0.62148	T	0.290	0.66172	T	6	0.3285376	0.50121	T	0.128517	0.81046	D	0.273	0.58883	.	.	0.499793596984	0.49617	0.39938145470763226	0.39853	0.536741138973	0.51004	0.331087321043	0.15098	T	.	.	.	0.0143616	0.53619	T	-0.217147	0.53010	T	0.929758163441268	0.59401	D	0.815518	0.47040	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.187232	0.43288	21.7	0.95515282199036966	0.27125	0.98799	0.87003	D	AEFDBI	0.654657	0.62726	D	0.0303623742461739	0.43239	2.620821	0.0404952075830219	0.41615	2.503117	0.999932495433131	0.46732	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.56	4.56	0.55644	5.916000	0.69712	3.904000	0.40368	0.660000	0.55035	1.000000	0.71638	0.999000	0.35428	0.194000	0.21720	1.0:0.0:0.0:0.0	14.091	0.64513	446	0.79659	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1697.44	36	chr1	228305272	.	A	G	1697.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.762;DP=351;ExcessHet=0;FS=1.265;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.855;SOR=0.831	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1180	6	0	1	0
chr1	228317575	228317575	G	T	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon52:c.G13673T:p.R4558L,OBSCN:NM_052843:exon52:c.G13673T:p.R4558L,OBSCN:NM_001271223:exon63:c.G16544T:p.R5515L	.	0	1518	4	0	0	4	0.00131579	.	.	.	3208861	OBSCN-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.269	0.169933199859	.	.	0.0001	0	0.0004	0	0	0.0001	0	0.0002	0.0001294	20	154602	rs199865640	0.0001	0.0001	0.0001	0.0002	0.0073	0.0001	0.0001	0.0055	0.0049	0.0002	0.0002	3.828e-05	0	0	0.0073	0.0001	0.0003	5.797e-05	0.0001	0.0001	7.709e-05	0.0001	0.0001	6.514e-05	5.325e-05	4.765e-05	3.339e-05	7.24e-05	0	0.0001	0	0	0	0.0032	0.0001	0.0014	0	0.023	0.49613	D	0.007	0.74150	D	0.804	0.46346	P	0.28	0.44547	B	0.004811	0.33369	N	0.203573	0.999892	0.21065	N	-0.45	0.02807	N	0.35	0.58029	T	-3.57	0.68999	D	0.432	0.47115	-1.0525	0.13709	T	0.093	0.35444	T	10	0.17435962	0.32311	T	0.169933	0.84763	D	0.269	0.58381	0.686	0.82367	0.709025157765	0.70648	0.40191814811094595	0.40107	0.52810492468	0.50404	0.36813378334	0.20564	T	0.081939	0.36712	T	-0.226661	0.17092	T	-0.269872	0.47831	T	0.119033820724526	0.14335	T	0.873813	0.61653	D	0.21280643	0.43642	0.18529524	0.41634	0.21280643	0.43642	0.18529524	0.41633	-9.411	0.70304	D	.	.	0.389	0.58942	A	.;.;.;.;.	.;.;.;.;.	2.651702	0.34524	19.65	0.99499046577318984	0.67916	0.39410	0.26207	N	AEFBI	0.193041	0.32017	N	-0.0910956484286738	0.37783	2.203149	-0.0713779219091646	0.36579	2.130553	0.0282477798551693	0.13820	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.42	3.48	0.38946	1.741000	0.37862	3.155000	0.36543	0.616000	0.49467	0.246000	0.24809	0.996000	0.32793	0.576000	0.30797	0.3285:0.0:0.6715:0.0	5.492	0.16071	443	0.79878	.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.007056	0.010101	0.012228	0.011696	0.000000	0.000000	0.000000	0.000000	0.07143	157.44	38	chr1	228317575	.	G	T	157.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.465;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=22.49;ReadPosRankSum=-0.792;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1131:.	6	0	1	0
chr1	228317577	228317577	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon52:c.G13675A:p.V4559M,OBSCN:NM_052843:exon52:c.G13675A:p.V4559M,OBSCN:NM_001271223:exon63:c.G16546A:p.V5516M	.	.	.	.	.	.	.	.	.	.	.	2472577	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.509	0.411068390123	8e-05	.	2.532e-05	0	0	0	0	4.586e-05	0	0	2.59e-05	4	154602	rs368391837	2.532e-05	2.599e-05	2.995e-05	2.063e-05	3.148e-05	1.868e-05	1.631e-05	2.285e-05	2.023e-05	0	2.237e-05	0	0	0	0	3.148e-05	0	1.159e-05	1.314e-05	1.313e-05	1.285e-05	1.346e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.008	0.58626	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000006	0.62929	D	0.000000	0.999988	0.54805	D	3.025	0.86340	M	-0.35	0.68616	T	-1.52	0.39314	N	0.429	0.46835	0.473	0.90158	D	0.600	0.85757	D	10	0.7873709	0.78362	D	0.411068	0.93599	D	0.509	0.78910	.	.	0.743235531803	0.74093	0.2667866224756007	0.26591	0.494608543549	0.48019	0.590969443321	0.51631	T	0.041863	0.25997	T	-0.0228257	0.48450	T	-0.140113	0.60109	T	0.896228015422821	0.54791	D	0.879112	0.59504	D	0.43658933	0.63182	0.40336645	0.64793	0.43658933	0.63182	0.40336645	0.64793	-10.182	0.75206	D	.	.	0.800	0.77264	P	.;.;.;.;.	.;.;.;.;.	4.296748	0.65572	24.8	0.99700274460607174	0.80591	0.97890	0.77901	D	AEFBI	0.679209	0.64331	D	0.795540790220026	0.85827	8.693558	0.678063774965472	0.80715	7.361261	0.999999983574481	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.42	4.42	0.52775	5.924000	0.69776	11.419000	0.92710	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.573000	0.30723	0.0:0.0:1.0:0.0	17.215	0.86822	443	0.79878	.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	58.44	38	chr1	228317577	.	G	A	58.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=0.431;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1131:.	6	0	1	0
chr1	228511918	228511918	G	A	exonic	BTNL10	.	nonsynonymous SNV	BTNL10:NM_001287262:exon2:c.C40T:p.P14S	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	.	.	0.00239617	0.0061	0.0024	0.0041	0.0069	0	0.0041	0.0159	0.0127	0.0009314	144	154602	rs182509913	0.0025	0.0020	0.0023	0.0027	0.0223	0.0024	0.0024	0.0187	0.0173	0.0006	0.0031	0.0055	0.0077	0.0002	0.0223	0.0020	0.0039	0.0066	0.0024	0.0024	0.0020	0.0028	0.0072	0.0022	0.0021	0.0054	0.0048	0.0004	0	0.0062	0.0058	0.0052	0.0003	0.0170	0.0022	0.0057	0.0072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	140.44	42	chr1	228511918	.	G	A	140.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.56;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=1.47;SOR=1.022	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	6	0	1	0
chr1	229441970	229441970	C	A	exonic	NUP133	.	nonsynonymous SNV	NUP133:NM_018230:exon26:c.G3405T:p.K1135N	.	.	.	.	.	.	.	.	.	.	.	2706922	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.0131901292151	.	.	0.0002	0	0	0	0	0.0003	0	0	0.0001294	20	154602	rs200976789	8.823e-05	9.029e-05	8.291e-05	9.36e-05	0.0003	7.536e-05	7.077e-05	8.439e-05	7.933e-05	3.125e-05	8.027e-05	0	0	0	0.0003	0.0001	0.0001	3.699e-05	7.884e-05	7.88e-05	5.139e-05	0.0001	0.0003	4.496e-05	3.512e-05	8.878e-05	5.387e-05	0	0	0.0003	0	0	0	0	0.0001	0	0	0.042	0.41637	D	0.016	0.60972	D	0.031	0.20130	B	0.024	0.20255	B	0.000005	0.62929	D	0.136417	0.998406	0.81001	D	2.455	0.71248	M	1.84	0.24656	T	-2.19	0.49352	N	0.318	0.35832	-1.0966	0.04528	T	0.053	0.22501	T	10	0.17439923	0.32317	T	0.01319	0.32398	T	0.045	0.12272	0.327	0.31034	0.421184727016	0.41734	0.5173296487920751	0.51655	0.199175415848	0.22318	0.639003038406	0.58422	T	0.340068	0.70913	T	-0.400602	0.02294	T	-0.543913	0.17914	T	0.131767258048058	0.15545	T	0.90041	0.65400	D	0.15502436	0.35058	0.11006186	0.26534	0.15502436	0.35057	0.11006186	0.26534	-5.036	0.37228	T	.	.	0.275	0.50835	B	.	.	2.941746	0.39120	20.9	0.99582889955381648	0.73099	0.88288	0.48148	D	AEFDGBI	0.283626	0.39668	N	-0.191101860850928	0.33505	1.901528	-0.0395974747580846	0.37944	2.228612	0.999996824932074	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.6	4.69	0.58546	0.520000	0.22586	1.080000	0.23883	0.599000	0.40250	0.984000	0.35821	1.000000	0.68203	0.223000	0.22544	0.0:0.7911:0.0:0.2089	9.140	0.36060	709	0.56835	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1199.44	35	chr1	229441970	.	C	A	1199.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.308;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.13;ReadPosRankSum=1.33;SOR=0.655	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1119	6	0	1	0
chr1	229595051	229595051	C	T	exonic	TAF5L	.	nonsynonymous SNV	TAF5L:NM_014409:exon5:c.G1016A:p.R339Q	.	428	1091	2	1	0	4	0.00182983	.	.	.	2285924	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.210	0.033324113518	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1488838334	1.302e-05	1.3e-05	1.635e-05	9.644e-06	0.0003	8.33e-06	6.71e-06	6.099e-05	2.524e-05	5.979e-05	2.24e-05	3.84e-05	7.566e-05	0	0.0003	7.204e-06	3.318e-05	0	3.286e-05	3.283e-05	1.285e-05	5.381e-05	2.939e-05	1.261e-05	7.98e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.939e-05	0.0010	0	0.269	0.16091	T	0.287	0.21210	T	0.6	0.39325	P	0.045	0.24526	B	0.000015	0.62929	D	0.110726	1	0.81001	D	0.775	0.19437	N	0.17	0.60485	T	-1.72	0.40850	N	0.758	0.75650	-0.9762	0.35860	T	0.113	0.40238	T	10	0.5507916	0.64244	D	0.033324	0.54903	D	0.210	0.50028	.	.	0.793628370406	0.79171	0.4924913021457778	0.49170	1.72895118267	0.90712	0.637177228928	0.58163	T	0.072382	0.34440	T	0.139642	0.68291	D	-0.0371903	0.67891	D	0.384416524196178	0.28352	T	0.893511	0.63097	D	0.10990373	0.25981	0.11211431	0.27048	0.10990373	0.25980	0.11211431	0.27047	-6.539	0.50586	T	.	.	0.097	0.16626	B	.;.	.;.	4.083024	0.60747	24.3	0.98542746703157513	0.42745	0.98899	0.88348	D	AEFDBI	0.858582	0.77612	D	0.0437623289340481	0.43856	2.670447	0.17506366424446	0.48486	3.06377	0.999999999999971	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.74	5.74	0.90070	7.898000	0.85965	4.832000	0.45208	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:1.0:0.0:0.0	19.920	0.97082	520	0.74355	WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	73.44	34	chr1	229595051	.	C	T	73.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.282;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=0;SOR=0.223	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1243	6	0	1	0
chr1	229651283	229651283	G	A	exonic	URB2	.	nonsynonymous SNV	URB2:NM_001314021:exon8:c.G4198A:p.V1400M,URB2:NM_014777:exon8:c.G4198A:p.V1400M	.	429	1062	30	1	0	32	0.0148423	.	.	.	718765	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.146	.	0.0055	0.0061901	0.0073	0.0012	0.0045	0.0001	0.0017	0.0079	0.0134	0.0164	0.007322	1132	154602	rs12142450	0.0075	0.0076	0.0074	0.0077	0.0160	0.0074	0.0074	0.0153	0.0150	0.0014	0.0040	0.0030	0	0.0028	0.0075	0.0078	0.0066	0.0160	0.0051	0.0051	0.0052	0.0050	0.0163	0.0048	0.0047	0.0134	0.0124	0.0016	0	0.0048	0.0029	0.0002	0.0020	0.0137	0.0075	0.0057	0.0163	0.037	0.59928	D	0.015	0.61642	D	0.988	0.62325	D	0.909	0.64565	D	0.002798	0.35935	N	0.300277	0.997342	0.43813	D	2.72	0.79541	M	1.0	0.41392	T	-0.72	0.50337	N	0.359	0.40063	-0.9761	0.35882	T	0.119	0.41691	T	9	0.006525457	0.00148	T	.	.	.	0.146	0.38789	.	.	0.187945064343	0.18414	0.3738495987657628	0.37298	0.345258720488	0.36438	0.27029812336	0.06179	T	0.075909	0.35292	T	-0.411872	0.01931	T	-0.350777	0.39117	T	0.0211395378185626	0.00816	T	0.886711	0.61387	D	0.033498842	0.03579	0.062224187	0.12142	0.033498842	0.03579	0.062224187	0.12141	-4.655	0.32855	T	.	.	0.259	0.49324	B	.;.	.;.	2.609720	0.33888	19.47	0.99700267357857819	0.80591	0.89704	0.50340	D	AEFBI	0.229967	0.35342	N	0.0195449998012908	0.42745	2.581276	-0.0451914890706626	0.37699	2.210879	0.0814482181084177	0.15873	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.78	-0.505	0.11394	1.045000	0.29951	-0.819000	0.07303	-0.153000	0.12021	1.000000	0.71638	0.000000	0.08366	0.990000	0.65344	0.0:0.3209:0.387:0.2922	10.548	0.44261	508	0.75398	Nucleolar 27S pre-rRNA processing, Urb2/Npa2, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008560	0.000000	0.004076	0.005848	0.000000	0.017241	0.015244	0.018939	0.1429	1800.44	33	chr1	229651283	.	G	A	1800.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.81;DP=334;ExcessHet=0.3476;FS=0.535;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.28;ReadPosRankSum=0.161;SOR=0.76	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1009	5	0	2	0
chr1	229659277	229659277	G	A	exonic	URB2	.	nonsynonymous SNV	URB2:NM_001314021:exon10:c.G4555A:p.E1519K,URB2:NM_014777:exon10:c.G4555A:p.E1519K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.022527275655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.018	0.59732	D	0.999	0.77913	D	0.941	0.67658	D	0.000000	0.84330	D	0.046950	1	0.81001	D	2.515	0.73286	M	0.82	0.48142	T	-1.39	0.34397	N	0.705	0.70878	-0.6557	0.62465	T	0.275	0.64629	T	9	0.79105794	0.78664	D	0.022527	0.45427	T	0.180	0.45073	0.49	0.57573	0.689874887879	0.68721	0.6846074097033958	0.68399	0.48230503497	0.47191	0.541827440262	0.44704	T	0.183971	0.53648	T	0.0705571	0.60917	D	-0.136426	0.60426	T	0.959611833095551	0.65581	D	0.880112	0.59716	D	0.37535313	0.58978	0.29575565	0.55608	0.37535313	0.58978	0.29575565	0.55607	-2.602	0.06519	T	.	.	0.226	0.45738	B	.	.	4.907384	0.80710	27.4	0.99937201472321724	0.99661	0.99036	0.90290	D	AEFBI	0.846801	0.76367	D	0.737485343192617	0.82090	7.676984	0.72995708383648	0.84651	8.352356	0.999999824107318	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.5	5.5	0.81386	8.703000	0.91063	11.315000	0.92518	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	19.015	0.92868	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	43.2	36	chr1	229659277	.	G	A	43.2	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-2.767;DP=456;ExcessHet=0;FS=325.349;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.38;ReadPosRankSum=1.57;SOR=8.553	GT:AD:DP:GQ:PL	./.:74,0:74:0:0,0,1369	3	0	1	3
chr1	230979199	230979199	T	C	exonic	ARV1	.	nonsynonymous SNV	ARV1:NM_001346992:exon1:c.T94C:p.Y32H,ARV1:NM_022786:exon1:c.T94C:p.Y32H	Epileptic encephalopathy, early infantile, 38, Autosomal recessive	430	1091	1	0	0	1	0.000458085	.	.	.	438655	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.351	.	0.0097	0.0129792	0.0028	0.0295	0.0016	0	0	0.0002	0.0011	0	0.0027555	426	154602	rs34745784	0.0010	0.0010	0.0011	0.0008	0.0328	0.0009	0.0009	0.0312	0.0306	0.0328	0.0016	0	0	0	0.0012	8.725e-05	0.0018	6.964e-05	0.0090	0.0090	0.0093	0.0087	0.0311	0.0086	0.0084	0.0297	0.0291	0.0311	0	0.0025	0	0	0	0	0.0002	0.0090	0	0.028	0.72154	D	0.0	0.92824	D	0.999	0.77913	D	0.985	0.76457	D	0.000018	0.62929	D	0.071905	0.999896	0.50595	D	2.78	0.81115	M	0.77	0.63403	T	-3.09	0.63438	D	0.82	0.81559	-0.5065	0.68414	T	0.148	0.47344	T	10	0.009450704	0.00213	T	.	.	.	0.351	0.67234	.	.	0.930361968889	0.92965	0.7025590410380408	0.70196	0.563462233489	0.52778	0.529721260071	0.42995	T	0.362476	0.75102	T	-0.370016	0.03593	T	-0.280594	0.46743	T	0.0185878579180475	0.00573	T	0.811819	0.46746	T	0.54893947	0.69897	0.55186117	0.74086	0.5795805	0.71587	0.58932567	0.76176	-9.495	0.70828	D	0.5547386362977352	0.62299	0.594	0.80404	P	.;.	.;.	5.118241	0.85593	28.6	0.99852860518548825	0.93191	0.94768	0.62263	D	ALL	0.762256	0.69972	D	0.711006490042861	0.80354	7.275787	0.683821107663486	0.81150	7.460078	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.31	5.31	0.75063	6.652000	0.74228	7.897000	0.73349	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:0.0:1.0	15.266	0.73355	830	0.39242	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003024	0.010101	0.002717	0.000000	0.000000	0.000000	0.003067	0.003788	0.07143	707.44	37	chr1	230979199	.	T	C	707.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.585;DP=258;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-1.664;SOR=0.713	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1260	6	0	1	0
chr1	231338447	231338447	C	T	exonic	SPRTN	.	nonsynonymous SNV	SPRTN:NM_001010984:exon1:c.C64T:p.R22C,SPRTN:NM_001261462:exon1:c.C64T:p.R22C,SPRTN:NM_032018:exon1:c.C64T:p.R22C	Ruijs-Aalfs syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0290947025919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.45393	D	0.051	0.51112	T	0.969	0.59353	D	0.34	0.48105	B	0.206743	0.16464	N	0.634329	1	0.08975	N	1.5	0.37844	L	0.83	0.47815	T	-1.94	0.45042	N	0.109	0.22228	-0.9504	0.40903	T	0.123	0.42505	T	10	0.09252322	0.16300	T	0.029095	0.51667	D	0.035	0.08770	0.22	0.14224	0.225033846419	0.22103	0.7478124642899863	0.74727	1.15950770778	0.79429	0.365570008755	0.20194	T	0.059935	0.31249	T	-0.243029	0.14966	T	-0.586871	0.13939	T	0.103916436433792	0.12782	T	0.857514	0.54891	D	0.1104816	0.26113	0.09728794	0.23152	0.1104816	0.26113	0.09728794	0.23151	-6.125	0.50023	T	.	.	0.121	0.30238	B	.;.;.	.;.;.	1.855045	0.23566	16.07	0.99279793046958908	0.57869	0.03204	0.08201	N	ALL	0.049378	0.08525	N	-0.446161466993311	0.23871	1.284943	-0.5641209332509	0.20432	1.100757	0.999999999883946	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.86	2.84	0.32241	0.001000	0.12940	-0.045000	0.12619	-0.331000	0.05774	0.001000	0.13787	0.006000	0.19429	0.003000	0.05239	0.1333:0.5454:0.1465:0.1748	3.176	0.06177	678	0.60190	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	747.53	79	chr1	231338447	.	C	T	747.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.587;DP=251;ExcessHet=0;FS=0.844;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.46;ReadPosRankSum=2.06;SOR=0.58	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1382	6	0	1	0
chr1	231352708	231352708	A	G	exonic	SPRTN	.	nonsynonymous SNV	SPRTN:NM_032018:exon5:c.A817G:p.I273V	Ruijs-Aalfs syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00355283890261	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1288715363	2.052e-06	2.052e-06	1.361e-06	2.75e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.656e-05	0	6.57e-06	6.567e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	1.0	0.11770	T	0.658	0.17531	T	0.0	0.02946	B	0.001	0.04355	B	0.502677	0.05101	N	1.277620	1	0.08975	N	1.14	0.29013	L	0.97	0.42502	T	0.06	0.06253	N	0.018	0.00252	-1.0242	0.22344	T	0.067	0.27468	T	10	0.052633375	0.05329	T	0.003553	0.08092	T	0.027	0.05988	0.205	0.12076	0.158540857583	0.15491	0.25389716832553005	0.25303	0.0185954411421	0.01812	0.264885962009	0.05487	T	0.01785	0.14492	T	-0.383715	0.02951	T	-0.788956	0.02193	T	0.0167882908135653	0.00434	T	0.518348	0.17581	T	0.011796705	0.00022	0.016967118	0.00024	0.011796705	0.00022	0.016967118	0.00024	-3.312	0.13893	T	.	.	0.066	0.02200	B	.;.	.;.	-0.908081	0.00913	0.034	0.14493606678647925	0.00322	0.04906	0.10656	N	AEFGBI	0.038891	0.05569	N	-1.29100254910783	0.03783	0.1696035	-1.38392561718925	0.03423	0.1596236	0.999997946501547	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.723	0.93126	0	.	.	5.26	-5.77	0.02176	-0.231000	0.09081	-0.038000	0.12706	0.743000	0.86499	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5344:0.103:0.3626:0.0	8.649	0.33189	648	0.63242	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	35.46	34	chr1	231352708	.	A	G	35.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.596;DP=310;ExcessHet=0;FS=49.524;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=0.178;SOR=5.891	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1110	6	0	1	0
chr1	233328492	233328492	A	-	exonic	MAP3K21	.	frameshift deletion	MAP3K21:NM_032435:exon1:c.464delA:p.Q155Rfs*90	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	52.4	34	chr1	233328491	.	CA	C	52.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.73;ReadPosRankSum=0.341;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1249	6	0	1	0
chr1	233353928	233353928	C	A	exonic	MAP3K21	.	nonsynonymous SNV	MAP3K21:NM_032435:exon3:c.C1108A:p.P370T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.877	0.189826788779	.	.	4.149e-05	0	0	0	0	7.522e-05	0	0	3.23e-05	5	154602	rs759012065	2.747e-05	2.941e-05	2.734e-05	2.761e-05	3.515e-05	2.071e-05	1.823e-05	2.631e-05	2.31e-05	0	0	0	0	0	0	3.515e-05	1.664e-05	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.415e-05	2.19e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.04	0.50809	D	0.997	0.90584	D	0.983	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-2.57	0.89692	D	-7.73	0.95732	D	0.879	0.93959	0.790	0.94290	D	0.816	0.93794	D	10	0.87668055	0.86961	D	0.189827	0.86086	D	0.877	0.96354	0.594	0.72371	0.774575070414	0.77250	0.8108768064464306	0.81042	1.8671837485	0.92471	0.81611931324	0.84432	D	0.631528	0.88586	D	0.339243	0.85786	D	0.379973	0.91429	D	0.879317760467529	0.52928	D	0.989401	0.96508	D	0.9133784	0.92612	0.7922573	0.87786	0.9133784	0.92613	0.7922573	0.87786	-15.001	0.95855	D	.	.	0.671	0.80321	P	.;.	.;.	4.838830	0.78981	27.0	0.99764134084694556	0.85335	0.98210	0.80566	D	AEFI	0.908471	0.86382	D	0.803496743588997	0.86324	8.848932	0.76434524011839	0.87224	9.149213	0.999999999999127	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.91	4.91	0.63897	7.899000	0.85994	7.319000	0.58157	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	18.301	0.90104	893	0.26510	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1307.45	34	chr1	233353928	.	C	A	1307.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.05;DP=300;ExcessHet=0;FS=0.744;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.47;SOR=0.613	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr1	235810105	235810105	A	-	exonic	LYST	.	stopgain	LYST:NM_000081:exon5:c.713delT:p.L238*,LYST:NM_001301365:exon5:c.713delT:p.L238*	Chediak-Higashi syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	37.4	35	chr1	235810104	.	TA	T	37.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.068;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.34;ReadPosRankSum=0;SOR=0.446	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1204	6	0	1	0
chr1	235981618	235981618	C	T	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon16:c.G3220A:p.V1074M	.	.	.	.	.	.	.	.	.	.	.	4021245	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.034	0.00718858179288	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224266142	5.483e-06	6.156e-06	2.727e-06	8.268e-06	0.0002	2.36e-06	1.71e-06	1.94e-06	1.28e-06	0	0	0	0	0	0.0002	5.401e-06	1.659e-05	0	1.314e-05	1.313e-05	0	2.689e-05	6.541e-05	2.18e-06	8.2e-07	.	.	0	0	6.541e-05	0	0	0	0	1.47e-05	0	0	0.04	0.42199	D	0.062	0.46182	T	0.356	0.37905	B	0.006	0.18489	B	0.043719	0.23712	N	0.485095	1	0.08975	N	1.54	0.38927	L	1.52	0.30669	T	-1.42	0.34992	N	0.235	0.26475	-1.0538	0.13359	T	0.044	0.18865	T	10	0.1391778	0.26465	T	0.007189	0.19061	T	0.034	0.08419	0.578	0.70347	0.260249123532	0.25628	0.6042341303907093	0.60354	0.219647916511	0.24509	0.383094578981	0.22695	T	0.124088	0.44888	T	-0.241381	0.15173	T	-0.584504	0.14145	T	0.118494383990765	0.14282	T	0.343766	0.07508	T	0.043493528	0.06788	0.07219032	0.15545	0.043493528	0.06788	0.07219032	0.15544	-6.898	0.56174	T	0.15521950927180894	0.18592	0.121	0.25000	B	.;.	.;.	1.451294	0.18725	13.89	0.98354259187540438	0.40578	0.14072	0.18207	N	AEFBI	0.268992	0.38537	N	-0.624496539530198	0.18210	0.9436023	-0.593522914215732	0.19661	1.055872	0.995234551476193	0.34019	0.706298	0.61202	0	0.53679	0.11191	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.87	2.58	0.30011	-0.275000	0.08557	-6.111000	0.01493	-0.811000	0.03066	0.000000	0.06391	0.000000	0.08366	0.070000	0.16646	0.0:0.6046:0.122:0.2734	7.279	0.25474	386	0.83455	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	648.44	70	chr1	235981618	.	C	T	648.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.014;DP=253;ExcessHet=0;FS=0.913;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=0.006;SOR=0.568	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1314	6	0	1	0
chr1	236017198	236017198	C	T	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon10:c.G2204A:p.R735H	.	425	1034	60	3	0	66	0.0309278	.	.	.	696593	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.575	.	0.0035	0.00758786	0.0087	0.0014	0.0035	0.0003	0.0194	0.0075	0.0088	0.0220	0.0078654	1216	154602	rs140374909	0.0060	0.0060	0.0054	0.0066	0.0298	0.0059	0.0059	0.0262	0.0248	0.0016	0.0038	0.0204	0.0004	0.0201	0.0298	0.0041	0.0076	0.0211	0.0058	0.0059	0.0049	0.0068	0.0193	0.0055	0.0054	0.0162	0.0150	0.0013	0	0.0065	0.0204	0.0010	0.0193	0.0274	0.0050	0.0062	0.0193	0.065	0.36310	T	0.051	0.47828	T	0.562	0.38380	P	0.219	0.37734	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.94	0.23649	L	-3.04	0.92357	D	-4.0	0.74051	D	0.899	0.89912	0.218	0.86206	D	0.586	0.85136	D	10	0.02833268	0.00966	T	.	.	.	0.575	0.82799	.	.	0.877072477656	0.87587	0.5254772813322914	0.52471	0.862312818367	0.69017	0.457313537598	0.32942	T	0.474465	0.80590	T	-0.00145907	0.51454	T	0.240723	0.85180	D	0.0331431175979164	0.02495	T	0.853215	0.53849	D	0.27889568	0.50942	0.32720947	0.58620	0.27032858	0.50105	0.32720947	0.58620	-5.801	0.44583	T	0.3513368987681945	0.44852	0.073	0.04640	B	.	.	4.355198	0.66921	25.0	0.99925081920638503	0.99042	0.95391	0.64536	D	AEFBCI	0.942119	0.94628	D	0.369368960004452	0.59769	4.159	0.514997655487685	0.68997	5.298048	0.999999999999993	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	7.548000	0.81103	5.874000	0.50567	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.340	0.98759	464	0.78488	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.034778	0.015152	0.033967	0.047059	0.000000	0.034483	0.045732	0.018939	0.07143	61.44	38	chr1	236017198	.	C	T	61.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.83;ReadPosRankSum=1.18;SOR=0.446	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1249	6	0	1	0
chr1	237004246	237004246	T	C	exonic	MT1HL1	.	nonsynonymous SNV	MT1HL1:NM_001276687:exon1:c.A127G:p.K43E	.	421	1096	4	1	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00100743418223	.	.	0.0004	0	0.0002	0	0	0	0.0022	0.0025	.	.	.	.	0.0002	0.0002	3.812e-05	0.0003	0.0027	0.0001	0.0001	0.0024	0.0023	0	0	0	0	0	0	0	9.935e-05	0.0027	0.0002	0.0002	2.57e-05	0.0004	0.0060	0.0001	0.0001	0.0043	0.0037	0	0	0	0	0	0	0	0	0	0.0060	.	.	.	0.131	0.34596	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.312	0.35194	.	.	.	.	.	.	.	0.01706788	0.00362	T	0.001007	0.01096	T	.	.	.	.	0.15556083564	0.15200	0.19799587105827893	0.19716	0.0884479184041	0.10002	.	.	.	0.190548	0.54512	T	-0.218748	0.18165	T	-0.0934684	0.63899	T	.	.	.	0.989034	0.96338	D	0.061926417	0.12878	0.123599574	0.29802	0.061926417	0.12878	0.123599574	0.29801	-11.45	0.82068	D	.	.	0.147	0.32372	B	.	.	1.550904	0.19880	14.48	0.77468709325696861	0.11889	0.20621	0.21108	N	AEFBI	0.068726	0.13571	N	.	.	.	.	.	.	0.0217894540342477	0.13378	0.262962	0.04601	0	0.084543	0.02171	0	0.292756	0.05521	0	0.223356	0.04673	0	.	.	0.991	0.991	0.18931	1.910000	0.39557	0.168000	0.15485	0.365000	0.20147	0.903000	0.31499	0.016000	0.20520	0.573000	0.30723	0.0:0.0:0.0:1.0	4.242	0.10102	621	0.65931	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1848.46	37	chr1	237004246	.	T	C	1848.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.693;DP=355;ExcessHet=0;FS=6.873;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=-0.643;SOR=0.906	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1442	6	0	1	0
chr1	240207634	240207634	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	1	144	3	1	77	82	0.0170648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1165.21	38	chr1	240207634	.	G	*	1165.21	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.879;DP=338;ExcessHet=0.0921;FS=0.626;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=6.2;ReadPosRankSum=-0.592;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1121:.	6	1	0	0
chr1	240207641	240207641	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	570	612	17	0	323	340	0.0136986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1287.21	38	chr1	240207641	.	T	*	1287.21	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.081;DP=346;ExcessHet=0.0921;FS=0.619;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=6.74;ReadPosRankSum=-2.405;SOR=0.711	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1121:.	6	1	0	0
chr1	240207647	240207647	-	CCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT	exonic	FMN2	.	nonframeshift insertion	FMN2:NM_020066:exon5:c.2835_2836insCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT:p.P946_P947insLLPGAGIPLPP,FMN2:NM_001305424:exon6:c.2847_2848insCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT:p.P950_P951insLLPGAGIPLPP	Mental retardation, autosomal recessive 47, Autosomal recessive	34	191	0	1	0	2	0.00520833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	.	0.0017	0.0041	0.0016	0.0018	0.0052	0.0016	0.0016	0.0046	0.0043	0.0015	0.0015	0.0070	0.0052	0.0020	0.0034	0.0014	0.0030	0.0011	0.0026	0.0080	0.0026	0.0026	0.0038	0.0022	0.0021	0.0028	0.0026	0.0015	0.0027	0.0038	0.0037	0.0015	0.0003	0	0.0034	0.0015	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	117.59	39	chr1	240207647	.	G	GCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT	117.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.544;DP=328;ExcessHet=0;FS=1.288;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.45;ReadPosRankSum=-2.394;SOR=1.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1121:.	6	0	1	0
chr1	240207756	240207821	CCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT	-	exonic	FMN2	.	nonframeshift deletion	FMN2:NM_020066:exon5:c.2944_3009del:p.A1083_G1104del,FMN2:NM_001305424:exon6:c.2956_3021del:p.A1087_G1108del	Mental retardation, autosomal recessive 47, Autosomal recessive	612	898	2	0	10	12	0.00111235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0171	0.0155	0.0051	0.0004	0.0179	0.0181	0.0172	0.0336	0.0004995	13	26028	.	0.0033	0.0039	0.0033	0.0034	0.0057	0.0033	0.0032	0.0052	0.0050	0.0025	0.0018	0.0026	0.0002	0.0037	0.0041	0.0034	0.0034	0.0057	0.0009	0.0052	0.0008	0.0010	0.0020	0.0007	0.0006	0.0007	0.0006	0.0011	0.0025	0.0007	0.0006	0	0.0003	0	0.0009	0.0012	0.0020	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	259.18	31	chr1	240207755	.	ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT	A	259.18	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.756;DP=294;ExcessHet=0;FS=1.344;MLEAC=1;MLEAF=0.083;MQ=54.19;MQRankSum=2.16;QD=5.51;ReadPosRankSum=2.66;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,10:47:99:0|1:240207755_ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT_A:269,0,1113:240207755	5	0	1	1
chr1	240207775	240207775	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	746	721	41	8	6	63	0.0380254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	725.64	31	chr1	240207775	.	C	*	725.64	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.539;DP=243;ExcessHet=0;FS=1.224;MLEAC=1;MLEAF=0.083;MQ=54.17;MQRankSum=2.9;QD=14.51;ReadPosRankSum=2.67;SOR=0.982	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,10:21:99:1|0:240207755_ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT_A:548,166,1031:240207755	5	0	1	1
chr1	240207785	240207785	A	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	156.39	30	chr1	240207785	.	A	*	156.39	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.568;DP=212;ExcessHet=0;FS=2.318;MLEAC=1;MLEAF=0.125;MQ=52.19;MQRankSum=2.18;QD=7.45;ReadPosRankSum=2.67;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:3,10:21:99:1|0:240207755_ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT_A:569,167,903:240207755	3	0	1	3
chr1	240207797	240207797	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	935	562	18	1	6	26	0.0174825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	505.09	28	chr1	240207797	.	G	*	505.09	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.01;DP=203;ExcessHet=0;FS=1.253;MLEAC=1;MLEAF=0.083;MQ=51.73;MQRankSum=2.45;QD=11.48;ReadPosRankSum=2.77;SOR=1.068	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:3,10:21:99:1|0:240207755_ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT_A:613,165,767:240207755	5	0	1	1
chr1	240207800	240207800	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	888	615	12	1	6	20	0.011254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	441.09	28	chr1	240207800	.	C	*	441.09	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.13;DP=199;ExcessHet=0;FS=1.237;MLEAC=1;MLEAF=0.083;MQ=50.87;MQRankSum=2.36;QD=10.26;ReadPosRankSum=2.77;SOR=0.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,10:21:99:1|0:240207755_ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT_A:616,163,724:240207755	5	0	1	1
chr1	240207806	240207806	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	1124	331	37	24	6	91	0.113788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1153.38	29	chr1	240207806	.	C	*	1153.38	.	AC=1;AF=0.125;AN=8;BaseQRankSum=1.67;DP=188;ExcessHet=0.2119;FS=2.291;MLEAC=1;MLEAF=0.125;MQ=50.53;MQRankSum=2.18;QD=16.02;ReadPosRankSum=-0.788;SOR=1.175	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:3,10:21:99:1|0:240207755_ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT_A:664,163,657:240207755	3	0	1	3
chr1	240207812	240207812	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	1181	328	2	3	8	16	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1304.91	25	chr1	240207812	.	G	*	1304.91	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.27;DP=161;ExcessHet=1.181;FS=0;MLEAC=1;MLEAF=0.1;MQ=53.13;MQRankSum=2.06;QD=16.11;ReadPosRankSum=0.763;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,10:20:99:1|0:240207755_ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT_A:677,167,574:240207755	4	0	1	2
chr1	240207818	240207818	A	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	1172	344	5	0	1	6	0.00721501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	365.38	25	chr1	240207818	.	A	*	365.38	.	AC=1;AF=0.125;AN=8;BaseQRankSum=3.15;DP=164;ExcessHet=0;FS=1.226;MLEAC=1;MLEAF=0.125;MQ=50.07;MQRankSum=2.1;QD=8.7;ReadPosRankSum=1.7;SOR=0.95	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:2,10:20:99:1|0:240207755_ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT_A:762,173,530:240207755	3	0	1	3
chr1	240207821	240207821	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	1088	429	4	0	1	5	0.00464037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	369.38	25	chr1	240207821	.	T	*	369.38	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.773;DP=165;ExcessHet=0;FS=1.151;MLEAC=1;MLEAF=0.125;MQ=50.6;MQRankSum=2.73;QD=7.86;ReadPosRankSum=1.33;SOR=0.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,10:20:99:1|0:240207755_ACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTT_A:762,173,530:240207755	3	0	1	3
chr1	240208225	240208225	C	T	exonic	FMN2	.	nonsynonymous SNV	FMN2:NM_020066:exon5:c.C3413T:p.A1138V,FMN2:NM_001305424:exon6:c.C3425T:p.A1142V	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	215203	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.026	0.0593264705397	.	.	4.303e-05	0	0	0	0	3.904e-05	0	0.0002	3.84e-05	1	26028	rs199570117	0.0002	0.0003	8.288e-05	0.0003	0.0019	0.0002	0.0002	0.0017	0.0015	0	6.742e-05	8.973e-05	8.975e-05	0	0.0006	3.489e-05	0.0001	0.0019	0.0002	0.0001	0.0003	0	0.0003	0	0	.	.	0	0	0	0	0	0	0	0.0003	0	0	0.125	0.27310	T	0.364	0.16766	T	0.001	0.07471	B	0.001	0.04355	B	0.949794	0.08295	N	0.965537	1	0.08975	N	-0.265	0.03777	N	0.3	0.58755	T	0.98	0.01447	N	0.072	0.04547	-1.0481	0.14932	T	0.074	0.29739	T	9	0.039099485	0.02376	T	0.059326	0.67625	D	0.026	0.05648	.	.	0.45318261447	0.44940	0.031559809544390006	0.03104	0.0908426113057	0.10259	0.480732858181	0.36158	T	0.039202	0.25109	T	-0.489698	0.00652	T	-0.676765	0.07183	T	0.027322051155838	0.01590	T	0.563244	0.19836	T	0.01999625	0.00544	0.03595056	0.02945	0.01999625	0.00544	0.03595056	0.02944	-5.064	0.37526	T	.	.	0.078	0.06896	B	.	.	-1.087624	0.00655	0.018	0.4854602836483915	0.04060	0.00082	0.00556	N	AEFI	0.024825	0.01600	N	-1.81045544107508	0.00520	0.0223836	-1.88724632416224	0.00519	0.02299746	0.0279158718562539	0.13801	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.21	-4.88	0.02884	-2.667000	0.00919	-20.000000	0.00162	-4.313000	0.00033	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1539:0.3443:0.0:0.5019	4.261	0.10189	976	0.04745	Formin Homology 1|Formin, FH2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010106	0.000000	0.009511	0.020161	0.000000	0.025862	0.003145	0.015152	0.1429	667.03	15	chr1	240208225	.	C	T	667.03	.	AC=2;AF=0.143;AN=14;DP=99;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=50.2;QD=29.71;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:20,0:20:60:.:.:0,60,559:.	6	1	0	0
chr1	240208284	240208316	CCCGGAGCGGGCATACCCCCACCTCCCCCTCTA	-	exonic	FMN2	.	nonframeshift deletion	FMN2:NM_020066:exon5:c.3472_3504del:p.A1171_G1181del,FMN2:NM_001305424:exon6:c.3484_3516del:p.A1175_G1185del	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.691e-05	0	0.0001	0	0	3.284e-05	0	0	3.84e-05	1	26028	rs750640213	1.629e-05	1.231e-05	0	2.922e-05	0.0001	4.33e-06	2.2e-06	1.983e-05	8.04e-06	0	0.0001	0	0	0	0	9.494e-06	0	0	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	372.15	12	chr1	240208283	.	TCCCGGAGCGGGCATACCCCCACCTCCCCCTCTA	T	372.15	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.178;DP=110;ExcessHet=0;FS=2.645;MLEAC=1;MLEAF=0.1;MQ=54.27;MQRankSum=-2.159;QD=17.72;ReadPosRankSum=-1.645;SOR=0.12	GT:AD:DP:GQ:PL	0/0:20,0:20:57:0,57,855	4	0	1	2
chr1	241723314	241723314	C	T	exonic	WDR64	.	nonsynonymous SNV	WDR64:NM_001367482:exon10:c.C1072T:p.R358W	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.0803709452637	.	.	8.243e-06	0	0	0	0	0	0	6.062e-05	6.5e-06	1	154602	rs751512962	1.642e-05	1.642e-05	1.906e-05	1.375e-05	8.118e-05	1.111e-05	9.34e-06	3.766e-05	2.662e-05	0	0	0.0002	0	0	0	9.894e-06	0	8.118e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.004794	0.33389	N	0.133058	0.889129	0.35913	D	2.215	0.62545	M	1.97	0.22067	T	-6.55	0.91827	D	0.907	0.90818	-0.4874	0.69100	T	0.235	0.60197	T	10	0.7913077	0.78684	D	0.080371	0.73445	D	0.282	0.59981	0.663	0.80098	0.297031009988	0.29315	0.8276922723537147	0.82727	0.434792675804	0.43605	0.737298965454	0.72575	T	0.173903	0.52294	T	-0.0287362	0.47602	T	-0.019375	0.69069	D	0.976707756519318	0.71502	D	0.911409	0.71541	D	0.5127366	0.67839	0.3707851	0.62321	0.5127366	0.67840	0.3707851	0.62320	-11.804	0.83883	D	.	.	0.814	0.80112	P	.;.;.	.;.;.	4.947150	0.81692	27.6	0.99902449673210114	0.97426	0.74360	0.36376	D	AEFGI	0.450577	0.50491	N	0.497312440859913	0.66931	5.01471	0.394024727557128	0.61194	4.316354	0.0699502150248828	0.15507	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.7	3.71	0.41733	3.167000	0.50493	3.851000	0.40089	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.234000	0.22842	0.1839:0.8161:0.0:0.0	11.161	0.47742	859	0.33891	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2265.44	34	chr1	241723314	.	C	T	2265.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.37;DP=379;ExcessHet=0;FS=4.079;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=0.884;SOR=1.006	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1395	6	0	1	0
chr1	243330649	243330649	T	C	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.T884C:p.M295T,SDCCAG8:NM_006642:exon10:c.T1178C:p.M393T,SDCCAG8:NM_001350247:exon11:c.T275C:p.M92T,SDCCAG8:NM_001350248:exon11:c.T1274C:p.M425T,SDCCAG8:NM_001350246:exon12:c.T275C:p.M92T,SDCCAG8:NM_001350251:exon13:c.T275C:p.M92T	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0097323393981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	1.363e-06	0	9.004e-07	0	0	.	.	0	0	0	0	0	0	9.004e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.25768	T	0.033	0.53072	D	0.288	0.32258	B	0.142	0.33681	B	0.014502	0.28512	N	0.453510	0.991261	0.24058	N	2.35	0.67516	M	0.96	0.42888	T	-1.36	0.39119	N	0.326	0.36674	-1.0039	0.28785	T	0.097	0.36393	T	10	0.17887664	0.32995	T	0.009732	0.25404	T	0.074	0.21613	0.189	0.09907	0.483448007585	0.47975	0.09831529846527605	0.09762	0.077331380461	0.08693	0.505008280277	0.39526	T	0.01979	0.21521	T	-0.0887363	0.38287	T	-0.36524	0.37444	T	0.598834455013275	0.36354	D	0.759724	0.38410	T	0.19019835	0.40594	0.10757766	0.25900	0.19019835	0.40594	0.10757766	0.25899	-6.297	0.48698	T	0.14363118300184172	0.16344	0.331	0.55320	B	.;.	.;.	2.324314	0.29769	18.23	0.95285732624943364	0.26586	0.92014	0.54755	D	AEFBI	0.442092	0.49996	N	-0.0401053196164673	0.40046	2.371564	0.107935306068944	0.44954	2.767287	0.989291218126179	0.31780	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	5.78	0.91418	4.591000	0.60729	3.506000	0.38809	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.888000	0.42677	0.0:0.0:0.0:1.0	12.493	0.55251	590	0.68897	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	350.92	121	chr1	243330649	.	T	C	350.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.776;DP=555;ExcessHet=0.4139;FS=122.334;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.46;ReadPosRankSum=2.7;SOR=7.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:172,27:199:60:0|1:243330647_G_A:0,60,6589:243330647	4	0	2	1
chr1	243330650	243330650	G	A	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.G885A:p.M295I,SDCCAG8:NM_006642:exon10:c.G1179A:p.M393I,SDCCAG8:NM_001350247:exon11:c.G276A:p.M92I,SDCCAG8:NM_001350248:exon11:c.G1275A:p.M425I,SDCCAG8:NM_001350246:exon12:c.G276A:p.M92I,SDCCAG8:NM_001350251:exon13:c.G276A:p.M92I	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00632597119373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01950	T	0.234	0.24840	T	0.0	0.02946	B	0.002	0.06944	B	0.014502	0.28512	N	0.453510	0.998133	0.22332	N	1.655	0.42436	L	0.94	0.43672	T	-0.36	0.13805	N	0.134	0.13055	-1.0378	0.17985	T	0.059	0.24871	T	10	0.06551871	0.08850	T	0.006326	0.16610	T	0.032	0.07718	0.2	0.11384	0.277730125212	0.27379	0.06689497572896488	0.06627	0.0422791242989	0.04555	0.43775510788	0.30270	T	0.015516	0.13294	T	-0.198068	0.21084	T	-0.522287	0.20064	T	0.111812710762024	0.13609	T	0.748825	0.36981	T	0.06465344	0.13740	0.049524207	0.07586	0.06465344	0.13740	0.049524207	0.07585	-4.367	0.29106	T	0.08085815892315676	0.04119	0.334	0.55487	B	.;.	.;.	1.361264	0.17704	13.32	0.69353412739573272	0.08945	0.80020	0.39772	D	AEFBI	0.121707	0.23650	N	-0.389817834839874	0.25830	1.405158	-0.219855073360214	0.30825	1.738947	0.037651775745868	0.14308	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	3.84	0.43422	1.754000	0.37998	4.467000	0.43481	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.887000	0.42601	0.093:0.0:0.7284:0.1787	6.558	0.21666	590	0.68897	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	250.68	121	chr1	243330650	.	G	A	250.68	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.534;DP=639;ExcessHet=0.4139;FS=98.568;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.84;ReadPosRankSum=1.43;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:170,27:197:54:0|1:243330647_G_A:0,54,6541:243330647	4	0	2	1
chr1	244437770	244437770	T	C	splicing	ADSS2	NM_001365073:exon2:c.184-2A>G;NM_001126:exon2:c.184-2A>G	.	.	.	.	.	.	.	.	.	.	1.0000	0.928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262099	0.79722	D	0.138711	0.79460	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.570712	0.92218	32	0.99531787578677755	0.69901	0.90872	0.52420	D	AEFGBCI	.	.	.	1.06359380442632	0.97399	16.062	0.903948885837924	0.95741	13.92164	0.999999999999767	0.74766	0.106106	0.02776	0	0.105846	0.03286	0	0.083675	0.02720	0	0.215001	0.04318	1	0.970796	0.73035	5.72	5.72	0.89380	7.429000	0.79493	7.849000	0.70877	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.818000	0.38543	0.0:0.0:0.0:1.0	14.978	0.70946	950	0.11238	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	37	chr1	244437770	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=198;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1128	6	1	0	0
chr1	246647339	246647339	A	G	exonic	CNST	.	nonsynonymous SNV	CNST:NM_001139459:exon9:c.A1138G:p.T380A,CNST:NM_152609:exon9:c.A1138G:p.T380A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00905229374352	.	.	1.65e-05	0	0	0	0	3.003e-05	0	0	1.29e-05	2	154602	rs754240317	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.12	0.27904	T	0.157	0.35205	T	0.005	0.18235	B	0.009	0.15521	B	0.326480	0.14185	N	0.692657	0.999995	0.08975	N	1.32	0.33002	L	2.17	0.19726	T	-1.6	0.38924	N	0.147	0.14905	-1.0443	0.16030	T	0.029	0.12322	T	10	0.05140525	0.05016	T	0.009052	0.23821	T	0.044	0.11924	0.091	0.01065	0.182106788282	0.17826	0.18241959168717564	0.18160	0.0807488137742	0.09089	0.341373622417	0.16644	T	0.009235	0.08422	T	-0.306356	0.08074	T	-0.677835	0.07116	T	0.0344602715651436	0.02716	T	0.520648	0.16939	T	0.04350216	0.06792	0.036459345	0.03098	0.04350216	0.06791	0.036459345	0.03098	-3.043	0.10651	T	.	.	0.081	0.11414	B	.;.	.;.	-0.206380	0.03059	0.474	0.86108196639858103	0.16319	0.22942	0.21914	N	ALL	0.030984	0.03221	N	-1.0884187709569	0.06856	0.3167925	-1.16529031156188	0.06497	0.3129622	0.999999999576604	0.74766	0.716459	0.82106	0	0.653731	0.59785	0	0.73237	0.93354	0	0.635551	0.53088	0	.	.	5.13	-4.18	0.03584	0.047000	0.13941	-0.363000	0.09661	0.688000	0.82842	0.321000	0.25511	0.000000	0.08366	0.066000	0.16387	0.4393:0.0:0.3108:0.2499	4.232	0.10063	876	0.30350	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1086.44	38	chr1	246647339	.	A	G	1086.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.734;DP=253;ExcessHet=0;FS=1.03;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.81;ReadPosRankSum=1.95;SOR=0.914	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1075	6	0	1	0
chr1	246843811	246843811	T	C	exonic	AHCTF1	.	nonsynonymous SNV	AHCTF1:NM_001323342:exon34:c.A6509G:p.K2170R,AHCTF1:NM_001323343:exon34:c.A6509G:p.K2170R,AHCTF1:NM_015446:exon34:c.A6536G:p.K2179R	.	1055	460	2	5	0	12	0.0128755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00698120750387	0.0018	0.00239617	0.0025	0.0001	0.0024	0.0001	0	0.0035	0.0025	0.0029	0.0020763	321	154602	rs146417813	0.0017	0.0018	0.0016	0.0018	0.0188	0.0016	0.0016	0.0153	0.0140	0.0003	0.0012	0.0089	5.844e-05	6.274e-05	0.0188	0.0015	0.0029	0.0028	0.0017	0.0017	0.0019	0.0015	0.0025	0.0015	0.0015	0.0022	0.0020	0.0003	0	0.0016	0.0095	0	0	0.0204	0.0025	0.0033	0.0023	0.653	0.04802	T	0.579	0.08685	T	0.001	0.07471	B	0.002	0.06944	B	0.189287	0.16890	N	0.602060	1	0.08975	N	1.13	0.28900	L	1.61	0.28391	T	-0.37	0.13226	N	0.064	0.05929	-1.0223	0.22965	T	0.030	0.13067	T	10	0.0053425133	0.00117	T	0.006981	0.18485	T	0.016	0.02506	.	.	0.252829632966	0.24901	0.06322072602380963	0.06261	0.201751063607	0.22580	0.21403862536	0.00995	T	0.035666	0.23808	T	-0.707788	0.00033	T	-0.79408	0.02055	T	0.0024258184804653	0.00025	T	0.587941	0.21519	T	0.03907174	0.05327	0.032779865	0.02066	0.03907174	0.05327	0.032779865	0.02066	-4.685	0.33222	T	.	.	0.083	0.09094	B	.;.;.	.;.;.	-0.590436	0.01598	0.108	0.55561035985374962	0.05368	0.02980	0.07830	N	AEFGBI	0.039816	0.05836	N	-1.14112630310275	0.05927	0.2715225	-1.14568492292391	0.06846	0.3309162	2.66950826835638E-4	0.06244	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.17	-0.428	0.11693	-0.560000	0.06055	-4.093000	0.02347	0.609000	0.47794	0.002000	0.15269	0.000000	0.08366	0.007000	0.07825	0.1555:0.4186:0.0:0.4259	4.495	0.11245	813	0.42397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009073	0.000000	0.005435	0.002924	0.000000	0.025862	0.012195	0.026515	0.08333	363.27	17	chr1	246843811	.	T	C	363.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.205;DP=145;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.25;MQRankSum=1.18;QD=12.53;ReadPosRankSum=0.395;SOR=0.741	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,895	5	0	1	1
chr1	247606390	247606390	G	A	exonic	OR2G3	.	nonsynonymous SNV	OR2G3:NM_001001914:exon1:c.G805A:p.D269N	.	433	1077	12	0	0	12	0.00554017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.000813674228055	0.0010	0.000798722	0.0013	9.73e-05	0	0	0	0.0015	0.0044	0.0031	0.0011513	178	154602	rs138441168	0.0008	0.0008	0.0007	0.0010	0.0146	0.0008	0.0008	0.0121	0.0111	0.0002	0.0002	0.0095	2.519e-05	3.745e-05	0.0146	0.0005	0.0018	0.0031	0.0008	0.0008	0.0008	0.0008	0.0046	0.0007	0.0006	0.0031	0.0026	7.231e-05	0	0.0006	0.0101	0	0	0.0171	0.0006	0.0024	0.0046	0.132	0.26519	T	0.137	0.33894	T	0.062	0.23277	B	0.152	0.34249	B	0.001646	0.38382	U	0.000000	1	0.08975	N	1.52	0.38360	L	8.67	0.00132	T	-2.81	0.59389	D	0.041	0.01421	-1.0280	0.21103	T	0.000	0.00152	T	10	0.0052327514	0.00114	T	8.14E-4	0.00649	T	0.056	0.15993	.	.	0.364342057095	0.36045	0.038446538627076886	0.03790	0.0553219456686	0.06117	0.245314985514	0.03291	T	0.00793	0.07302	T	-0.710398	0.00032	T	-0.796578	0.01990	T	0.0244655741298573	0.01203	T	0.0950905	0.00708	T	0.1297703	0.30300	0.12112958	0.29228	0.1297703	0.30300	0.12112958	0.29228	-5.439	0.41293	T	.	.	0.096	0.15520	B	.	.	1.373352	0.17837	13.40	0.99156739482070833	0.53987	0.01867	0.05758	N	AEFI	0.033845	0.04088	N	-0.506211367755261	0.21879	1.164329	-0.480948254968767	0.22678	1.233015	2.66090989677694E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.65	2.73	0.31266	-0.137000	0.10369	.	.	0.560000	0.28382	0.000000	0.06391	0.000000	0.08366	0.933000	0.47100	0.1179:0.2102:0.672:0.0	5.263	0.14896	895	0.25842	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.005051	0.002717	0.017544	0.000000	0.051724	0.009146	0.007576	0.07143	753.44	55	chr1	247606390	.	G	A	753.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.09;DP=479;ExcessHet=0;FS=1.142;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=0.642;SOR=0.486	GT:AD:DP:GQ:PL	0/0:113,0:113:99:0,120,1800	6	0	1	0
chr1	247738686	247738686	G	-	exonic	OR14K1	.	frameshift deletion	OR14K1:NM_001004732:exon1:c.72delG:p.H25Mfs*7	.	432	1076	14	0	0	14	0.00646353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.000998403	0.0012	0.0001	0.0004	0	0	0.0013	0.0045	0.0032	0.0001537	4	26028	rs568673953	0.0011	0.0011	0.0010	0.0013	0.0147	0.0011	0.0010	0.0118	0.0107	0.0002	0.0005	0.0055	0	1.883e-05	0.0147	0.0008	0.0015	0.0028	0.0007	0.0007	0.0008	0.0007	0.0042	0.0006	0.0006	0.0028	0.0023	0.0001	0	0.0015	0.0058	0	0	0.0102	0.0005	0.0028	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1076.4	37	chr1	247738685	.	TG	T	1076.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.277;DP=266;ExcessHet=0;FS=0.884;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-1.536;SOR=0.538	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1113	6	0	1	0
chr1	247921313	247921315	TCT	-	exonic	OR2T8	.	nonframeshift deletion	OR2T8:NM_001005522:exon1:c.296_298del:p.F101del	.	690	821	8	3	0	14	0.00845411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00199681	0.0038	0	0.0019	0	0	0.0011	0.0192	0.0267	6.5e-06	1	154602	rs374461351	0.0026	0.0019	0.0016	0.0036	0.0239	0.0025	0.0025	0.0229	0.0224	0	0.0006	0.0003	9.208e-05	0	0.0094	0.0009	0.0022	0.0239	0.0009	0.0011	0.0005	0.0013	0.0178	0.0007	0.0007	0.0132	0.0116	9.807e-05	0	0.0004	0.0004	0	0	0	0.0008	0.0019	0.0178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005240	0.000000	0.000000	0.020619	0.000000	0.011364	0.004808	0.010753	0.07143	172.8	18	chr1	247921312	.	ATCT	A	172.8	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.983;DP=96;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=32.46;MQRankSum=1.1;QD=12.34;ReadPosRankSum=0.129;SOR=0.307	GT:AD:DP:GQ:PL	0/0:20,0:20:48:0,48,720	6	0	1	0
chr1	247949492	247949492	G	C	exonic	OR2L8	.	nonsynonymous SNV	OR2L8:NM_001001963:exon1:c.G635C:p.G212A	.	431	954	137	0	0	137	0.0669927	.	.	.	3567362	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.013	0.000755472054538	.	.	9.101e-05	0.0002	0	0	0	0.0001	0	0	0.0004995	13	26028	rs200574966	0.0001	0.0061	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	3.033e-05	0	3.861e-05	2.558e-05	5.693e-05	0.0002	0.0002	0.0001	5.872e-05	0.0003	0.0084	0.0003	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0.0004	0	0.0002	9.756e-05	0	7.505e-05	0.0015	0.0004	.	.	.	.	.	.	0.001	0.07471	B	0.021	0.19346	B	0.446818	0.12558	U	0.592578	1	0.08975	N	0.175	0.09039	N	.	.	.	.	.	.	.	.	-1.0572	0.12465	T	0.035	0.15247	T	10	0.05015081	0.04707	T	7.55E-4	0.00529	T	.	.	.	.	.	.	0.0971041359842281	0.09641	.	.	0.196209579706	0.00355	T	0.00371	0.03121	T	-0.33051	0.06074	T	-0.712531	0.05166	T	0.0468932795453433	0.04946	T	0.0759924	0.00559	T	0.051389877	0.09430	0.047986154	0.07030	0.051389877	0.09429	0.047986154	0.07030	-3.461	0.15890	T	.	.	0.070	0.03588	B	.	.	-0.753225	0.01203	0.059	0.75514092856022963	0.11104	0.00220	0.01242	N	AEFI	0.015257	0.00282	N	-1.56839154189077	0.01430	0.06237095	-1.65869361444473	0.01331	0.0600902	6.44935728979901E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.8	-3.61	0.04264	-1.360000	0.02706	.	.	-1.316000	0.01230	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2703:0.1902:0.5394	5.646	0.16867	946	0.12043	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	214.53	145	chr1	247949492	.	G	C	214.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.86;DP=1310;ExcessHet=0;FS=40.42;MLEAC=1;MLEAF=0.071;MQ=56.36;MQRankSum=-5.05;QD=0.71;ReadPosRankSum=-5.885;SOR=2.888	GT:AD:DP:GQ:PL	0/0:270,0:270:99:0,120,1800	6	0	1	0
chr1	248361672	248361672	A	0	exonic	OR2T4	.	.	.	.	444	759	27	2	290	321	0.0200129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3151.83	37	chr1	248361672	.	A	*	3151.83	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.75;DP=877;ExcessHet=1.1394;FS=3.503;MLEAC=2;MLEAF=0.143;MQ=59.98;MQRankSum=-1.093;QD=4.52;ReadPosRankSum=-2.376;SOR=0.49	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,105,1545:.	5	0	2	0
chr1	248406509	248406509	G	A	exonic	OR2T1	.	nonsynonymous SNV	OR2T1:NM_030904:exon1:c.G515A:p.R172H	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.00780496591234	7.7e-05	.	0.0001	9.61e-05	0.0006	0.0001	0	1.499e-05	0	0.0002	8.41e-05	13	154602	rs201499018	3.215e-05	3.215e-05	3.403e-05	3.025e-05	0.0003	2.478e-05	2.22e-05	0.0002	0.0001	2.987e-05	0.0003	0	2.519e-05	0	0.0002	1.889e-05	4.967e-05	9.275e-05	2.63e-05	2.627e-05	3.855e-05	1.346e-05	6.551e-05	8.15e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.551e-05	0	0	0	0	4.411e-05	0	0	0.021	0.49117	D	0.007	0.69154	D	0.206	0.29860	B	0.041	0.23986	B	0.002091	0.37271	U	0.000000	0.574446	0.32321	D	1.805	0.47535	L	-1.1	0.77336	T	-4.41	0.77391	D	0.392	0.43320	-0.3348	0.73994	T	0.337	0.70371	T	10	0.24417177	0.41643	T	0.007805	0.20694	T	0.406	0.71869	.	.	0.857322076476	0.85594	0.7415535566684816	0.74101	0.0123924855139	0.01177	0.203986912966	0.00582	T	0.140757	0.47547	T	-0.186674	0.22748	T	-0.213772	0.53335	T	0.0823738415677297	0.10288	T	0.878912	0.59457	D	0.19754717	0.41624	0.16778968	0.38690	0.19754717	0.41623	0.16778968	0.38689	-8.21	0.62492	D	.	.	0.216	0.52736	B	.;.	.;.	3.334295	0.45915	22.2	0.99706380932897554	0.81005	0.78880	0.38986	D	AEFBCI	0.539676	0.55655	D	-0.0406712334461894	0.40019	2.369639	0.0336381609455862	0.41287	2.478002	0.971644330597367	0.29304	0.487112	0.14033	0	0.468601	0.06657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.75	2.89	0.32713	5.058000	0.64127	0.069000	0.14235	-0.129000	0.13216	0.920000	0.31959	0.000000	0.08366	0.984000	0.60418	0.1668:0.0:0.8332:0.0	10.135	0.41874	982	0.03397	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1156.44	74	chr1	248406509	.	G	A	1156.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.033;DP=583;ExcessHet=0;FS=0.824;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=-0.282;SOR=0.563	GT:AD:DP:GQ:PL	0/0:154,0:154:99:0,120,1800	6	0	1	0
chr1	248441325	248441325	T	C	exonic	OR2T7	.	nonsynonymous SNV	OR2T7:NM_001355223:exon1:c.T209C:p.I70T	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00368065330321	.	.	0.0002	0	0	0	0	1.511e-05	0	0.0013	.	.	.	rs751406445	8.212e-05	0.0001	7.081e-05	9.353e-05	0.0009	7.004e-05	6.554e-05	0.0006	0.0005	0	0	0	2.519e-05	0	0.0009	3.868e-05	0.0002	0.0007	6.071e-05	9.197e-05	5.274e-05	6.904e-05	0.0009	3.151e-05	2.363e-05	0.0003	0.0002	0	0	0	0	0	0	0.0034	5.893e-05	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	112.45	24	chr1	248441325	.	T	C	112.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.84;DP=203;ExcessHet=0;FS=3.847;MLEAC=1;MLEAF=0.071;MQ=35.05;MQRankSum=0.569;QD=2.81;ReadPosRankSum=-0.697;SOR=1.588	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1185	6	0	1	0
chr1	248638325	248638325	G	T	exonic	OR2T35	.	nonsynonymous SNV	OR2T35:NM_001001827:exon1:c.C934A:p.Q312K	.	448	1067	5	2	0	9	0.00419972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.000651785031621	.	.	.	.	.	.	.	.	.	.	.	.	.	rs773478284	0.0008	0.0005	0.0007	0.0008	0.0029	0.0007	0.0007	0.0017	0.0015	7.549e-05	0.0003	0	0	3.975e-05	0.0029	0.0008	0.0013	0.0018	0.0006	0.0006	0.0007	0.0005	0.0016	0.0005	0.0005	0.0008	0.0007	0.0002	0	0.0005	0	0	0	0	0.0010	0.0006	0.0016	0.224	0.18691	T	0.715	0.05434	T	0.0	0.02946	B	0.003	0.08700	B	0.405105	0.13072	N	0.663946	1	0.08975	N	0.155	0.08919	N	1.28	0.35960	T	-0.3	0.11913	N	0.142	0.14196	-0.9946	0.31405	T	0.029	0.12234	T	10	0.046363443	0.03818	T	6.52E-4	0.00350	T	0.015	0.02232	.	.	0.351146185902	0.34720	0.10346781363592959	0.10276	1.95920376204	0.93432	0.353717148304	0.18468	T	0.002057	0.01461	T	-0.353512	0.04510	T	-0.745572	0.03661	T	0.0677950714799263	0.08339	T	0.342966	0.07460	T	0.05353292	0.10144	0.044990294	0.05953	0.05353292	0.10144	0.044990294	0.05953	-4.112	0.25467	T	.	.	0.081	0.08417	B	.;.	.;.	-0.469683	0.01966	0.170	0.35780286028575425	0.02265	0.00643	0.02809	N	AEFI	0.027572	0.02277	N	-1.74467045494547	0.00695	0.0300075	-1.82722822433919	0.00676	0.0300648	1.39872963777933E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.14	-4.28	0.03475	-1.465000	0.02463	-2.347000	0.03869	0.309000	0.19094	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0975:0.1411:0.3308:0.4306	2.792	0.05060	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1428.49	107	chr1	248638325	.	G	T	1428.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.356;DP=638;ExcessHet=0;FS=3.047;MLEAC=1;MLEAF=0.071;MQ=50.61;MQRankSum=2.33;QD=10.06;ReadPosRankSum=1.27;SOR=1.012	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	6	0	1	0
chr1	248650739	248650739	A	G	exonic	OR2T27	.	nonsynonymous SNV	OR2T27:NM_001001824:exon1:c.T146C:p.I49T	.	428	1093	1	0	0	1	0.000457247	.	.	.	4005048	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.135	0.00378235673908	.	.	0.0002	0	0	0	0	1.562e-05	0	0.0014	3.84e-05	1	26028	rs766043533	8.402e-05	0.0001	7.015e-05	9.778e-05	0.0013	7.1e-05	6.669e-05	0.0006	0.0006	0	0	0	2.565e-05	0	0.0013	3.081e-05	0.0001	0.0008	3.453e-05	9.224e-05	0	7.127e-05	0.0009	1.31e-05	8.33e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.54e-05	0	0.0009	0.0	0.91255	D	0.005	0.72224	D	0.987	0.61912	D	0.959	0.70163	D	0.001163	0.39978	N	0.000000	1	0.08975	N	.	.	.	3.09	0.08371	T	-4.17	0.75456	D	0.282	0.31925	-1.1323	0.01675	T	0.050	0.21378	T	10	0.08064121	0.13113	T	0.003782	0.08806	T	0.135	0.36572	.	.	0.641406357711	0.63844	0.1292369307305674	0.12848	0.743471328655	0.63393	0.42296949029	0.28245	T	0.016739	0.13781	T	-0.435037	0.01383	T	-0.456869	0.26940	T	0.159821969351869	0.17859	T	0.740726	0.35986	T	0.54074347	0.69438	0.3593371	0.61394	0.54074347	0.69439	0.3593371	0.61393	-7.123	0.54926	T	.	.	0.293	0.53595	B	.;.;.	.;.;.	2.605995	0.33832	19.46	0.99217967900695858	0.55808	0.30198	0.24020	N	AEFGI	0.100407	0.20190	N	-0.0303060833558864	0.40488	2.405175	-0.250828535071181	0.29742	1.668861	9.22615818320212E-4	0.08013	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.19	3.19	0.35720	1.724000	0.37685	0.086000	0.14453	0.550000	0.28109	0.001000	0.13787	0.000000	0.08366	0.064000	0.16252	0.879:0.0:0.121:0.0	6.643	0.22111	988	0.01987	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	616.49	37	chr1	248650739	.	A	G	616.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.425;DP=304;ExcessHet=0;FS=5.073;MLEAC=1;MLEAF=0.071;MQ=41.1;MQRankSum=-1.082;QD=5.27;ReadPosRankSum=0.658;SOR=0.455	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,116,1800	6	0	1	0
chr1	248650803	248650804	AG	-	exonic	OR2T27	.	frameshift deletion	OR2T27:NM_001001824:exon1:c.81_82del:p.F28Cfs*83	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1370108189	1.302e-05	0.0002	1.773e-05	8.264e-06	0.0002	8.33e-06	6.71e-06	0.0001	8.769e-05	0.0002	6.731e-05	0	2.52e-05	0	0	3.602e-06	4.979e-05	0	0.0015	0.0062	0.0015	0.0015	0.0048	0.0013	0.0013	0.0043	0.0041	0.0048	0	0.0012	0	0	0	0	5.948e-05	0.0024	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	98.4	61	chr1	248650802	.	AAG	A	98.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.319;DP=524;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=41.11;MQRankSum=-1.93;QD=12.3;ReadPosRankSum=-1.93;SOR=1.034	GT:AD:DP:GQ:PL	0/0:101,0:101:99:0,120,1800	6	0	1	0
chr1	248855631	248855631	C	A	exonic	ZNF692	.	nonsynonymous SNV	ZNF692:NM_001193328:exon7:c.G751T:p.G251W,ZNF692:NM_001136036:exon8:c.G901T:p.G301W,ZNF692:NM_001350072:exon8:c.G883T:p.G295W,ZNF692:NM_001350073:exon8:c.G274T:p.G92W,ZNF692:NM_017865:exon8:c.G886T:p.G296W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.014203220104	.	0.000199681	1.648e-05	0	0.0002	0	0	0	0	0	1.94e-05	3	154602	rs202070604	2.736e-06	2.736e-06	2.722e-06	2.75e-06	8.944e-05	6.4e-07	4.3e-07	2.985e-05	1.804e-05	0	8.944e-05	0	0	0	0	0	0	0	6.564e-06	6.561e-06	0	1.342e-05	6.536e-05	0	0	.	.	0	0	6.536e-05	0	0	0	0	0	0	0	0.002	0.72154	D	0.003	0.76473	D	0.992	0.64738	D	0.841	0.60228	P	0.858480	0.08912	N	0.926147	0.999963	0.18878	N	1.75	0.45442	L	2.97	0.09728	T	-3.17	0.70314	D	0.531	0.56662	-1.0298	0.20519	T	0.047	0.20156	T	10	0.12767649	0.24281	T	0.014203	0.34156	T	0.087	0.25287	0.275	0.22687	0.0401082797425	0.02173	0.1943484748703271	0.19352	0.746644882047	0.63555	0.372745931149	0.21225	T	0.381621	0.74390	T	-0.330412	0.06081	T	-0.457344	0.26889	T	0.71194976568222	0.41296	D	0.821218	0.48050	T	0.2023518	0.42277	0.21802555	0.46490	0.2023518	0.42277	0.21802555	0.46489	-6.662	0.51523	T	.	.	0.315	0.58286	B	.;.;.	.;.;.	3.055789	0.41018	21.3	0.99253271380919073	0.56957	0.13119	0.17674	N	AEFDBI	0.201801	0.32843	N	-0.142290544357439	0.35564	2.044346	-0.302307743718679	0.28025	1.559337	0.999639203910639	0.41205	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.53	-1.07	0.09459	-0.939000	0.04043	-0.031000	0.12795	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.687000	0.33748	0.0:0.4773:0.148:0.3747	5.228	0.14728	976	0.04745	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr1	248855631	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=301;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1093	6	1	0	0
chr2	1237941	1237941	G	A	exonic	SNTG2	.	nonsynonymous SNV	SNTG2:NM_018968:exon10:c.G773A:p.R258Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.00496329685721	0.0012	0.00119808	0.0003	0.0036	0.0001	0	0	4.586e-05	0	9.012e-05	0.0002717	42	154602	rs200548143	5.632e-05	5.746e-05	6.006e-05	5.253e-05	0.0013	4.628e-05	4.253e-05	0.0010	0.0009	0.0013	0.0003	0	2.528e-05	0	0	1.532e-05	6.644e-05	1.185e-05	0.0005	0.0005	0.0004	0.0005	0.0018	0.0004	0.0004	0.0014	0.0013	0.0018	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.14655	B	0.0	0.04355	B	0.000169	0.48594	N	0.183612	0.999991	0.18198	N	-2.72	0.00030	N	-0.04	0.63240	T	2.27	0.00300	N	0.227	0.30347	-0.9345	0.43470	T	0.042	0.17994	T	10	0.011838138	0.00257	T	0.004963	0.12504	T	0.113	0.31778	.	.	0.449956787536	0.44615	0.2105436933853838	0.20970	0.114153396927	0.12873	0.2449824512	0.03258	T	0.010939	0.09820	T	-0.510594	0.00498	T	-0.512376	0.21070	T	0.00759640522875817	0.00088	T	0.708829	0.31953	T	0.022053612	0.00843	0.03745547	0.03401	0.022053612	0.00843	0.03745547	0.03400	4.623	0.00100	T	.	.	0.066	0.02285	B	.;.	.;.	0.308443	0.06837	3.365	0.34504802085319375	0.02114	0.06791	0.12815	N	AEFDBI	0.034566	0.04306	N	-1.52777885860616	0.01669	0.07301191	-1.38407437575694	0.03421	0.1595439	8.27790073132453E-4	0.07872	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.68	-1.06	0.09491	2.282000	0.43122	0.912000	0.22635	-0.688000	0.04154	1.000000	0.71638	0.906000	0.28050	0.022000	0.11911	0.7574:0.0:0.2426:0.0	9.642	0.39011	952	0.10565	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1236.44	33	chr2	1237941	.	G	A	1236.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.083;DP=295;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.924;SOR=0.726	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1114	6	0	1	0
chr2	1638928	1638928	G	A	exonic	PXDN	.	nonsynonymous SNV	PXDN:NM_012293:exon21:c.C4124T:p.T1375I	Anterior segment dysgenesis 7, with sclerocornea, Autosomal recessive	416	1102	3	0	1	4	0.00135931	.	.	.	250311	Anterior_segment_dysgenesis_7|not_specified|not_provided	MONDO:MONDO:0010015,MedGen:C3151617,OMIM:269400,Orphanet:289499|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.088	.	0.0085	0.0103834	0.0028	0.0289	0.0022	0	0	0.0004	0.0022	0.0003	0.0028201	436	154602	rs61747875	0.0011	0.0011	0.0012	0.0010	0.0296	0.0011	0.0010	0.0281	0.0275	0.0296	0.0022	0	0	0	0.0042	0.0002	0.0037	0.0002	0.0078	0.0078	0.0078	0.0078	0.0263	0.0075	0.0073	0.0250	0.0244	0.0263	0	0.0039	0	0	0	0.0034	0.0005	0.0028	0.0004	0.166	0.23183	T	0.246	0.23984	T	0.018	0.17786	B	0.013	0.16460	B	0.103226	0.19757	N	0.558829	0.999932	0.19363	N	0	0.06538	N	0.14	0.60854	T	-1.52	0.36980	N	0.13	0.12484	-1.0759	0.08164	T	0.021	0.08686	T	10	0.0029197633	0.00047	T	.	.	.	0.088	0.25558	.	.	0.146414634003	0.14194	0.40086080808485314	0.40001	0.436592063625	0.43742	0.282422572374	0.07832	T	0.020411	0.16075	T	-0.613241	0.00121	T	-0.632025	0.10262	T	0.00414689722189722	0.00044	T	0.370863	0.08760	T	0.030039312	0.02599	0.032640807	0.02031	0.030039312	0.02598	0.032640807	0.02031	-3.919	0.22587	T	0.08403174407924402	0.04597	0.083	0.09336	B	.	.	0.774155	0.11441	8.049	0.79235037551299969	0.12650	0.56256	0.30070	D	AEFBCI	0.319302	0.42274	N	-1.06654036109763	0.07267	0.337059	-0.954136630426277	0.10828	0.5478568	0.999285355132043	0.39007	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.43	3.05	0.34272	3.205000	0.50792	3.332000	0.37635	-0.781000	0.03322	0.694000	0.28569	0.980000	0.30356	0.000000	0.00833	0.1358:0.0:0.1542:0.71	7.522	0.26801	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	1210.53	35	chr2	1638928	.	G	A	1210.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.148;DP=322;ExcessHet=0;FS=1.53;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=0.379;SOR=0.874	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	6	0	1	0
chr2	1638964	1638964	C	T	exonic	PXDN	.	nonsynonymous SNV	PXDN:NM_012293:exon21:c.G4088A:p.G1363E	Anterior segment dysgenesis 7, with sclerocornea, Autosomal recessive	414	1106	2	0	0	2	0.000903342	.	.	YES	250312	not_specified|not_provided|Anterior_segment_dysgenesis_7	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010015,MedGen:C3151617,OMIM:269400,Orphanet:289499	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.116	.	0.0079	0.00978435	0.0027	0.0274	0.0022	0	0	0.0004	0.0022	0.0003	0.0026843	415	154602	rs61747868	0.0011	0.0011	0.0011	0.0010	0.0283	0.0010	0.0010	0.0268	0.0262	0.0283	0.0020	0	0	0	0.0042	0.0002	0.0034	0.0002	0.0073	0.0073	0.0074	0.0071	0.0244	0.0069	0.0068	0.0232	0.0227	0.0244	0	0.0033	0	0	0	0.0034	0.0005	0.0028	0.0004	0.954	0.02126	T	1.0	0.01155	T	0.018	0.17786	B	0.021	0.19346	B	0.116942	0.02690	N	1.792660	1	0.08975	N	2.015	0.55033	M	0.32	0.58468	T	-0.22	0.10480	N	0.224	0.25130	-1.0152	0.25272	T	0.053	0.22655	T	10	0.003169328	0.00053	T	.	.	.	0.116	0.32463	.	.	0.173771789658	0.16945	0.2272726771962383	0.22642	0.531332312678	0.50637	0.206094011664	0.00656	T	0.009379	0.08542	T	-0.587655	0.00173	T	-0.595952	0.13153	T	0.0068664728333512	0.00078	T	0.367463	0.08589	T	0.037594132	0.04850	0.06252151	0.12246	0.037594132	0.04849	0.06252151	0.12246	-2.594	0.06458	T	.	.	0.071	0.03811	B	.	.	0.213369	0.05968	2.407	0.19410630275831109	0.00654	0.12427	0.17262	N	AEFBCI	0.090778	0.18392	N	-1.00171697384136	0.08568	0.4022237	-0.988152056416629	0.10050	0.5038091	0.998730770338277	0.37559	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.07	3.21	0.35933	0.148000	0.16042	0.140000	0.15159	0.598000	0.34611	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7222:0.0:0.2778	7.715	0.27866	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.025253	0.010870	0.005848	0.000000	0.000000	0.003049	0.000000	0.07143	1157.53	35	chr2	1638964	.	C	T	1157.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.368;DP=308;ExcessHet=0;FS=5.186;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=0.592;SOR=1.257	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	6	0	1	0
chr2	1649483	1649483	A	T	exonic	PXDN	.	nonsynonymous SNV	PXDN:NM_012293:exon17:c.T2297A:p.L766Q	Anterior segment dysgenesis 7, with sclerocornea, Autosomal recessive	417	1100	4	1	0	6	0.00271985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.812	0.279160792007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	2.736e-06	4.084e-06	1.375e-06	0.0003	6.4e-07	4.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	3.313e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.992	0.80445	D	0.000001	0.62929	D	0.000000	0.999997	0.58761	D	2.735	0.79925	M	-0.58	0.71425	T	-4.81	0.80767	D	0.953	0.96187	0.259	0.86900	D	0.572	0.84526	D	10	0.95434815	0.94787	D	0.279161	0.90167	D	0.812	0.93931	0.847	0.95025	0.842033681576	0.84052	0.9231741529360961	0.92294	1.25728808862	0.81941	0.786598563194	0.79925	T	0.316257	0.68781	T	0.24306	0.77950	D	0.111362	0.77663	D	0.995983307977641	0.88445	D	0.878612	0.59406	D	0.88172776	0.89810	0.84841245	0.91398	0.88172776	0.89811	0.84841245	0.91399	-9.957	0.73654	D	0.6066953501387351	0.67402	0.845	0.79489	P	.	.	4.551869	0.71641	25.7	0.99532410527527981	0.69963	0.97969	0.78517	D	AEFDBCI	0.943158	0.94863	D	0.865333235960065	0.89963	10.19321	0.818679056556194	0.91060	10.69934	0.999999999999209	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	9.206000	0.94186	11.029000	0.85041	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.884000	0.42379	1.0:0.0:0.0:0.0	15.883	0.78998	804	0.43891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1589.44	120	chr2	1649483	.	A	T	1589.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.855;DP=335;ExcessHet=0;FS=0.681;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=1.42;SOR=0.822	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,111,1665	6	0	1	0
chr2	3387687	3387687	G	A	exonic	TRAPPC12	.	nonsynonymous SNV	TRAPPC12:NM_001321102:exon2:c.G64A:p.A22T,TRAPPC12:NM_016030:exon2:c.G64A:p.A22T	.	423	1069	30	0	0	30	0.0138376	.	.	.	1663862	Inborn_genetic_diseases|TRAPPC12-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.071	.	0.0021	0.00139776	0.0050	0.0004	0.0080	0	0.0275	0.0050	0.0102	0.0051	0.0019081	295	154602	rs200941005	0.0025	0.0025	0.0025	0.0026	0.0053	0.0024	0.0024	0.0043	0.0042	0.0009	0.0025	0.0004	2.758e-05	0.0056	0.0053	0.0024	0.0029	0.0047	0.0022	0.0022	0.0020	0.0024	0.0038	0.0020	0.0020	0.0030	0.0027	0.0004	0	0.0038	0.0003	0	0.0063	0	0.0026	0.0019	0.0037	0.4	0.10482	T	0.444	0.13177	T	0.429	0.35556	B	0.019	0.18783	B	0.107730	0.02608	N	1.827870	1	0.08975	N	0.77	0.19370	N	-0.3	0.67874	T	-0.2	0.10136	N	0.032	0.00825	-0.9649	0.38230	T	0.117	0.41187	T	10	0.0035474598	0.00064	T	.	.	.	0.071	0.20720	.	.	0.455722563999	0.45195	0.06708059550249582	0.06646	0.237743367185	0.26321	0.416596293449	0.27369	T	0.003064	0.02464	T	-0.581985	0.00187	T	-0.608217	0.12129	T	0.00150097774500844	0.00015	T	0.353565	0.07967	T	0.02512607	0.01415	0.037013467	0.03266	0.02292016	0.00989	0.036016054	0.02965	-4.169	0.26301	T	0.09427473967491526	0.06291	0.071	0.04002	B	.;.	.;.	0.782339	0.11523	8.123	0.79857654814798007	0.12933	0.02393	0.06788	N	AEFDBI	0.040266	0.05965	N	-0.751456294368612	0.14593	0.7282783	-0.822862250216735	0.13942	0.7259425	0.975804504763812	0.29666	0.643511	0.44296	0	0.643519	0.57511	0	0.570548	0.19454	0	0.631631	0.49550	0	.	.	4.34	2.46	0.29032	0.626000	0.24185	2.228000	0.31507	0.654000	0.53741	0.001000	0.13787	0.038000	0.21505	0.001000	0.02609	0.1029:0.0:0.7068:0.1903	5.734	0.17324	906	0.23090	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007622	0.000000	0.010929	0.000000	0.000000	0.000000	0.015337	0.007576	0.07143	2673.45	35	chr2	3387687	.	G	A	2673.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.134;DP=300;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.56;ReadPosRankSum=-0.687;SOR=0.627	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1172:.	6	0	1	0
chr2	3387691	3387691	C	T	exonic	TRAPPC12	.	nonsynonymous SNV	TRAPPC12:NM_001321102:exon2:c.C68T:p.P23L,TRAPPC12:NM_016030:exon2:c.C68T:p.P23L	.	.	.	.	.	.	.	.	.	.	.	3621208	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.126	0.0496676964987	0.0002	0.000399361	0.0002	0.0008	0.0024	0	0	0	0	0	3.88e-05	6	154602	rs145121353	1.689e-05	1.642e-05	1.812e-05	1.564e-05	0.0002	1.143e-05	9.6e-06	6.044e-05	3.887e-05	0.0002	5.151e-05	0	0	0	0	7.327e-06	1.699e-05	9.86e-05	0.0001	0.0001	0.0001	0.0001	0.0004	7.085e-05	5.742e-05	0.0002	0.0002	0.0004	0	0	0	0.0004	0	0	0	0	0	0.505	0.07619	T	0.382	0.15890	T	0.437	0.35811	B	0.11	0.31460	B	0.410379	0.04587	N	1.352090	0.999999	0.08975	N	1.04	0.26193	L	0.14	0.60854	T	-0.49	0.15578	N	0.12	0.11054	-0.8551	0.51613	T	0.229	0.59459	T	10	0.017551363	0.00375	T	0.049668	0.63910	D	0.126	0.34673	.	.	0.42748209135	0.42367	0.05833586467898493	0.05774	0.250569275448	0.27630	0.451129734516	0.32098	T	0.003292	0.02698	T	-0.423404	0.01628	T	-0.542838	0.18018	T	0.0492101153985088	0.05361	T	0.433957	0.11861	T	0.034052078	0.03746	0.029961413	0.01394	0.034052078	0.03746	0.029961413	0.01394	-4.278	0.27867	T	0.1389734935019138	0.15423	0.075	0.05623	B	.;.	.;.	1.872023	0.23776	16.15	0.70267369639503419	0.09240	0.20399	0.21027	N	AEFDBI	0.098625	0.19870	N	-0.371148233660094	0.26502	1.446879	-0.449459243852199	0.23564	1.285702	0.999999974517948	0.74766	0.643511	0.44296	0	0.643519	0.57511	0	0.570548	0.19454	0	0.631631	0.49550	0	.	.	4.64	4.64	0.57399	0.671000	0.24853	2.968000	0.35785	0.580000	0.29708	0.000000	0.06391	0.045000	0.21693	0.002000	0.04165	0.0:1.0:0.0:0.0	12.864	0.57314	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2731.45	35	chr2	3387691	.	C	T	2731.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.227;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.34;ReadPosRankSum=-0.472;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1172:.	6	0	1	0
chr2	3499063	3499063	C	T	exonic	ADI1	.	nonsynonymous SNV	ADI1:NM_001306077:exon4:c.G422A:p.R141Q,ADI1:NM_018269:exon4:c.G440A:p.R147Q	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.868	0.0934148432872	0.0010	0.000798722	0.0004	0.0037	0.0002	0	0	7.504e-05	0.0011	0	0.0003428	53	154602	rs148975364	0.0002	0.0002	0.0002	0.0001	0.0045	0.0001	0.0001	0.0039	0.0037	0.0045	0.0004	0	0	0	0.0007	2.339e-05	0.0005	3.478e-05	0.0011	0.0010	0.0011	0.0010	0.0034	0.0009	0.0009	0.0030	0.0028	0.0034	0	0.0005	0	0	0	0	7.349e-05	0.0014	0.0004	0.001	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.255	0.98070	H	.	.	.	-3.88	0.73477	D	0.948	0.95608	0.437	0.89642	D	0.543	0.83194	D	9	0.11062071	0.20682	T	0.093415	0.76069	D	0.868	0.96022	.	.	0.608193466112	0.60505	0.8916747431488622	0.89137	0.62795318895	0.56867	0.601370036602	0.53097	T	0.746605	0.93023	D	0.17576	0.71653	D	0.478852	0.94183	D	0.201974604022437	0.20524	T	0.953205	0.82144	D	0.88013095	0.89677	0.72204787	0.83586	0.88013095	0.89679	0.72204787	0.83587	-11.941	0.84562	D	.	.	0.963	0.88427	P	.;.	.;.	5.033107	0.83719	28.1	0.99936110015147173	0.99621	0.99542	0.97254	D	AEFBI	0.885179	0.81548	D	0.888808481060662	0.91202	10.76476	0.74645503084806	0.85894	8.71802	0.999999998649732	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.59	4.59	0.56297	7.212000	0.77445	5.517000	0.48812	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.685000	0.33688	0.0:1.0:0.0:0.0	16.504	0.84111	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	1012.27	33	chr2	3499063	.	C	T	1012.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.908;DP=278;ExcessHet=0;FS=1.767;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=1.23;SOR=0.461	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	5	0	1	1
chr2	5693647	5693647	G	A	exonic	SOX11	.	nonsynonymous SNV	SOX11:NM_003108:exon1:c.G926A:p.S309N	Mental retardation, autosomal dominant, 27, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3053262	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.281	0.924860536636	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1388644510	8.352e-06	9.577e-06	6.923e-06	9.797e-06	9.941e-06	4.45e-06	3.52e-06	5.33e-06	3.9e-06	0	0	0	0	0	0	9.941e-06	1.678e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.748	0.03609	T	0.193	0.28210	T	0.005	0.12996	B	0.007	0.12992	B	0.866575	0.07149	U	1.072530	0.799552	0.29131	N	0.285	0.10073	N	-4.61	0.97866	D	-1.33	0.33197	N	0.049	0.02088	0.102	0.84220	D	0.770	0.92178	D	10	0.19224998	0.34946	T	0.924861	0.99450	D	0.281	0.59861	0.249	0.18602	0.882393534751	0.88123	0.2395760085774816	0.23871	1.02087520744	0.75113	0.908416390419	0.97318	D	0.172058	0.52041	T	-0.0521707	0.44117	T	-0.312716	0.43367	T	0.100492276251316	0.12412	T	0.476352	0.14285	T	0.095123194	0.22380	0.063290596	0.12514	0.095123194	0.22380	0.063290596	0.12513	-5.066	0.37548	T	0.13802743012335586	0.15238	0.15	0.33156	B	.	.	2.887659	0.38231	20.7	0.96916856080047686	0.31601	0.59779	0.31010	D	AEFDBCIJ	0.312349	0.41781	N	-0.659297916820204	0.17190	0.8824376	-0.457849688616038	0.23326	1.271505	0.99999909364437	0.74766	0.789315	0.99827	0	0.596491	0.49125	0	0.768056	0.98339	0	0.63947	0.58350	0	.	.	4.47	3.59	0.40253	3.029000	0.49397	8.216000	0.76821	-0.142000	0.12367	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.1017:0.0:0.8983:0.0	9.486	0.38093	985	0.02828	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	431.53	28	chr2	5693647	.	G	A	431.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.407;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=0.379;SOR=0.715	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1323	6	0	1	0
chr2	5693753	5693764	CAGCAGCAGCGG	-	exonic	SOX11	.	nonframeshift deletion	SOX11:NM_003108:exon1:c.1032_1043del:p.S351_S354del	Mental retardation, autosomal dominant, 27, Autosomal dominant	399	1119	3	0	1	4	0.00133869	.	.	.	363893	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0038	.	0.0004	0.0004	0.0005	0	0	8.506e-05	0.0031	0.0011	0.0002264	35	154602	rs755419138	0.0003	0.0003	0.0003	0.0004	0.0065	0.0003	0.0003	0.0048	0.0042	0.0006	0.0010	0	0.0001	4.317e-05	0.0065	0.0002	0.0004	0.0009	0.0006	0.0006	0.0005	0.0006	0.0011	0.0005	0.0004	0.0008	0.0007	0.0011	0	0.0008	0	0.0002	0	0.0102	0.0003	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1462.4	36	chr2	5693752	.	CCAGCAGCAGCGG	C	1462.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.2;DP=285;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.51;ReadPosRankSum=0.352;SOR=0.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,102,1323:.	6	0	1	0
chr2	8958524	8958524	A	C	exonic	MBOAT2	.	nonsynonymous SNV	MBOAT2:NM_138799:exon2:c.T194G:p.L65R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	0.0229579739855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.007	0.69154	D	0.984	0.60733	D	0.753	0.56122	P	0.002166	0.37095	N	0.299751	0.999995	0.58761	D	2.445	0.70938	M	2.54	0.13916	T	-4.56	0.78636	D	0.927	0.93135	-1.1182	0.02448	T	0.080	0.31645	T	10	0.9475696	0.94085	D	0.022958	0.45892	T	0.417	0.72705	0.829	0.93915	0.320526991862	0.31653	0.9137127637080802	0.91346	1.35500379905	0.84173	0.729132711887	0.71379	T	0.398874	0.75686	T	0.213578	0.75166	D	0.0690129	0.74843	D	0.979214012622833	0.72717	D	0.937706	0.76563	D	0.8798945	0.89658	0.8837814	0.93827	0.8798945	0.89659	0.8837814	0.93828	-14.642	0.94957	D	.	.	0.853	0.79910	P	.	.	5.059953	0.84328	28.3	0.99756115117823974	0.84694	0.98818	0.87255	D	AEFBI	0.840312	0.75762	D	0.688070362850141	0.78850	6.955496	0.721085312886649	0.83980	8.166259	0.999918489866798	0.45857	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	6.03	6.03	0.97798	6.984000	0.75959	10.908000	0.84170	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.558	0.84362	603	0.67726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr2	8958524	.	A	C	33.22	.	AC=2;AF=0.143;AN=14;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1193	6	1	0	0
chr2	11669712	11669712	G	T	exonic	NTSR2	.	nonsynonymous SNV	NTSR2:NM_012344:exon1:c.C418A:p.P140T	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.0643991524422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.177e-06	7.524e-06	1.431e-06	2.944e-06	0.0002	5.8e-07	1.6e-07	.	.	0	0	0	0	0	0.0002	9.298e-07	1.742e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.967	0.56408	D	0.831	0.59664	P	0.029585	0.25432	N	0.280362	0.839503	0.35044	D	3.475	0.92503	M	0.11	0.61208	T	-7.03	0.93810	D	0.949	0.95725	-0.3434	0.73745	T	0.319	0.68865	T	10	0.9842268	0.98604	D	0.064399	0.69266	D	0.354	0.67510	0.926	0.98773	0.854231039027	0.85282	0.4566891877246211	0.45586	2.55136621799	0.97893	0.838663637638	0.87891	D	0.601218	0.87222	D	0.187459	0.72729	D	0.0314954	0.72375	D	0.952192274487339	0.63734	D	0.789521	0.42989	T	0.8518428	0.87472	0.8094507	0.88866	0.8518428	0.87473	0.8094507	0.88866	-11.215	0.80824	D	.	.	0.369	0.57793	A	.	.	4.038614	0.59774	24.1	0.996160879718896	0.75112	0.74858	0.36631	D	AEFBCI	0.865276	0.78432	D	0.468046843614157	0.65235	4.79695	0.312680549910937	0.56283	3.791544	0.999999815854136	0.74766	0.525926	0.21836	0	0.59043	0.45803	0	0.503968	0.08637	0	0.584449	0.35598	0	.	.	3.39	1.5	0.22029	9.485000	0.96909	3.208000	0.36786	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.239000	0.22975	0.1069:0.1774:0.7157:0.0	6.901	0.23461	951	0.11083	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1231.46	33	chr2	11669712	.	G	T	1231.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.167;DP=251;ExcessHet=0;FS=2.15;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.85;ReadPosRankSum=0.464;SOR=0.441	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,101,1055	6	0	1	0
chr2	15942167	15942167	T	C	exonic	MYCN	.	nonsynonymous SNV	MYCN:NM_001293228:exon2:c.T103C:p.F35L,MYCN:NM_005378:exon2:c.T103C:p.F35L	Feingold syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.044373811311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	0.06	0.45744	T	0.677	0.41330	P	0.518	0.48133	P	0.233754	0.03535	U	3.755950	1	0.81001	D	2.93	0.84523	M	1.49	0.31470	T	-4.1	0.74900	D	0.67	0.67822	-0.9421	0.42282	T	0.176	0.51974	T	10	0.64660263	0.69362	D	0.044374	0.61457	D	0.286	0.60456	0.684	0.82175	0.41089407703	0.40707	0.4334101353106042	0.43258	1.96884443498	0.93542	0.8407330513	0.88206	D	0.437509	0.78351	T	-0.0442364	0.45319	T	-0.301319	0.44585	T	0.985664367675781	0.76591	D	0.693531	0.30321	T	0.50143874	0.67179	0.5116405	0.71780	0.50143874	0.67180	0.5116405	0.71780	-9.153	0.68676	D	0.3311317344439049	0.42914	0.986	0.92555	P	.	.	5.096607	0.85133	28.5	0.99534555378436029	0.70087	0.94185	0.60371	D	AEFDBHCIJ	0.906427	0.85918	D	0.426405536680661	0.62880	4.51126	0.387417004661317	0.60788	4.270449	0.999999999989656	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.52208	0.10781	0	0.618803	0.45993	0	.	.	3.41	3.41	0.38145	7.806000	0.84575	5.954000	0.51702	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	12.154	0.53373	961	0.08552	Transcription regulator Myc, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	56.44	33	chr2	15942167	.	T	C	56.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-7.841;DP=410;ExcessHet=0;FS=145.313;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.26;ReadPosRankSum=2.51;SOR=7.523	GT:AD:DP:GQ:PL	0/1:171,42:213:67:67,0,3760	6	0	1	0
chr2	15945795	15945795	C	G	exonic	MYCN	.	nonsynonymous SNV	MYCN:NM_001293231:exon2:c.C460G:p.P154A,MYCN:NM_001293228:exon3:c.C1093G:p.P365A,MYCN:NM_005378:exon3:c.C1093G:p.P365A	Feingold syndrome 1, Autosomal dominant	0	1506	16	0	0	16	0.00528402	.	.	.	494063	not_provided|MYCN-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.049	0.00329400212941	0.0004	0.000798722	0.0011	0.0002	0.0006	0	0	0.0008	0.0022	0.0042	0.0009767	151	154602	rs140276895	0.0006	0.0006	0.0005	0.0008	0.0040	0.0006	0.0006	0.0032	0.0031	0	0.0007	0.0020	0	5.629e-05	0.0040	0.0004	0.0012	0.0035	0.0005	0.0005	0.0004	0.0005	0.0044	0.0004	0.0003	0.0029	0.0025	0.0002	0	0.0004	0.0017	0	0	0	0.0004	0.0005	0.0044	0.548	0.06627	T	0.196	0.27943	T	0.003	0.11197	B	0.015	0.17295	B	0.952151	0.07662	N	1.143260	0.911235	0.27502	N	1.175	0.29870	L	2.31	0.16794	T	-2.06	0.47175	N	0.089	0.06720	-0.9751	0.36104	T	0.034	0.14683	T	10	0.007650286	0.00174	T	0.003294	0.07298	T	0.049	0.13647	.	.	0.123314135267	0.11883	0.5554918430995536	0.55476	0.762051862462	0.64309	0.35464823246	0.18603	T	0.280575	0.65329	T	-0.630878	0.00094	T	-0.682353	0.06840	T	0.00231323464555852	0.00024	T	0.643236	0.25495	T	0.04147329	0.06112	0.054295804	0.09312	0.045553748	0.07474	0.04799686	0.07033	-3.068	0.10932	T	0.13771949040255213	0.15178	0.050	0.00207	B	.;.	.;.	0.711887	0.10810	7.490	0.84978858068483398	0.15611	0.63599	0.32140	D	AEFDBI	0.132353	0.25163	N	-0.608059533852879	0.18700	0.9730331	-0.538044831616272	0.21124	1.141245	0.999803013849493	0.43304	0.722319	0.85440	0	0.563428	0.19063	0	0.698795	0.65105	0	0.586402	0.36253	0	.	.	4.99	2.01	0.25568	1.011000	0.29513	0.659000	0.20486	0.596000	0.33519	0.778000	0.29449	0.051000	0.21832	0.553000	0.30245	0.2578:0.4925:0.2497:0.0	9.777	0.39794	961	0.08552	Transcription regulator Myc, N-terminal;Transcription regulator Myc, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.007576	0.07143	133.44	34	chr2	15945795	.	C	G	133.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.674;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=22.24;ReadPosRankSum=0.967;SOR=0.368	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1189	6	0	1	0
chr2	21002134	21002134	A	T	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon29:c.T13288A:p.S4430T	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	389479	Hypercholesterolemia,_autosomal_dominant,_type_B|Familial_hypobetalipoproteinemia_1|not_specified|Cardiovascular_phenotype|not_provided	MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MedGen:CN169374|MedGen:CN230736|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.267	0.0111273684726	7.7e-05	.	0.0001	0	0.0004	0	0	0.0001	0	0	9.06e-05	14	154602	rs72654426	6.294e-05	6.293e-05	5.718e-05	6.876e-05	0.0003	5.228e-05	4.846e-05	6.092e-05	5.28e-05	0	0.0001	0	0	0	0.0003	7.015e-05	9.936e-05	0	7.885e-05	7.88e-05	5.14e-05	0.0001	0.0002	4.497e-05	3.512e-05	5.287e-05	3.339e-05	2.413e-05	0	0.0002	0	0	0	0	0.0001	0	0.0002	0.627	0.05198	T	0.469	0.12281	T	.	.	.	.	.	.	0.198837	0.16653	N	0.540328	1	0.08975	N	.	.	.	5.77	0.00687	T	0.12	0.05604	N	0.646	0.65758	-0.9458	0.41681	T	0.001	0.00378	T	10	0.36454415	0.52997	T	0.011127	0.28436	T	0.267	0.58126	.	.	0.398872588132	0.39498	0.13808639027117178	0.13732	0.0347712706754	0.03660	0.288953959942	0.08771	T	.	.	.	-0.332931	0.05892	T	-0.460963	0.26495	T	0.0343920662674163	0.02704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05404	B	.	.	-0.874435	0.00969	0.038	0.61855317278671507	0.06814	0.10827	0.16220	N	AEFBHCI	0.258772	0.37725	N	-1.45270842318548	0.02195	0.09667277	-1.42485533350992	0.03005	0.1393747	0.920374422082663	0.26630	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.79	-2.23	0.06539	-0.694000	0.05217	-3.755000	0.02559	-0.265000	0.06832	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3437:0.4154:0.0912:0.1496	2.867	0.05259	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.017241	0.003049	0.003788	0.07143	1037.44	57	chr2	21002134	.	A	T	1037.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.504;DP=281;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=0.543;SOR=0.741	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1266	6	0	1	0
chr2	21003040	21003040	C	T	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon29:c.G12382A:p.V4128M	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	1	1501	19	1	0	21	0.00694674	.	.	YES	366335	Hypercholesterolemia,_autosomal_dominant,_type_B|Familial_hypobetalipoproteinemia_1|Familial_hypercholesterolemia|not_specified|not_provided|Cardiovascular_phenotype|Hypercholesterolemia,_familial,_1	MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.024	.	0.0067	0.00339457	0.0062	0.0009	0.0059	0	0.0064	0.0080	0.0146	0.0049	0.0058602	906	154602	rs1801703	0.0072	0.0072	0.0073	0.0072	0.0100	0.0071	0.0071	0.0079	0.0079	0.0017	0.0043	0.0007	7.656e-05	0.0054	0.0100	0.0081	0.0075	0.0052	0.0056	0.0056	0.0057	0.0054	0.0093	0.0053	0.0051	0.0087	0.0085	0.0016	0	0.0046	0.0012	0	0.0048	0.0034	0.0093	0.0052	0.0029	0.618	0.05341	T	0.684	0.06033	T	.	.	.	.	.	.	0.051185	0.02021	N	1.899840	1	0.08975	N	.	.	.	1.47	0.31987	T	0.16	0.05217	N	0.065	0.03726	-1.0567	0.12595	T	0.016	0.06425	T	10	0.0028062165	0.00044	T	.	.	.	0.024	0.04979	.	.	0.149567049428	0.14543	0.09888669999826209	0.09819	0.0368754698301	0.03907	0.182299241424	0.00117	T	.	.	.	-0.723562	0.00026	T	-0.804162	0.01801	T	0.00187586309304137	0.00019	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.09045	B	.	.	-0.778509	0.01150	0.054	0.56985998092514478	0.05670	0.04011	0.09439	N	AEFGBHCI	0.241675	0.36325	N	-2.3493621597773	0.00035	0.001513355	-2.3987015562225	0.00039	0.001737205	0.999999999999984	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.99	-12.0	0.00013	-1.855000	0.01755	-8.347000	0.00985	-0.688000	0.04154	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2677:0.4423:0.1244:0.1655	5.102	0.14098	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.010101	0.014946	0.011696	0.000000	0.000000	0.006098	0.003788	0.1429	3150.24	41	chr2	21003040	.	C	T	3150.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.73;DP=445;ExcessHet=0.3476;FS=0.451;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=0.865;SOR=0.66	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	5	0	2	0
chr2	21012294	21012294	G	A	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon26:c.C4574T:p.S1525F	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.0352093550815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	0.103487	0.19745	N	0.468884	0.998175	0.22310	N	.	.	.	5.62	0.00808	T	-3.84	0.72240	D	0.318	0.35832	-0.8008	0.55097	T	0.008	0.02884	T	10	0.43239602	0.57575	T	0.035209	0.56191	D	0.176	0.44373	0.361	0.36548	0.72892733797	0.72652	0.5077554197076668	0.50697	0.103416740195	0.11694	0.271432518959	0.06329	T	.	.	.	-0.128973	0.31663	T	-0.423037	0.30727	T	0.99003803730011	0.80250	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	0.56363	A	.	.	4.943655	0.81600	27.6	0.99535153274178811	0.70150	0.96221	0.68092	D	AEFBHCI	0.844019	0.76101	D	0.547927680474219	0.69955	5.431325	0.617099314218754	0.76182	6.443943	0.999985940908661	0.51787	0.500041	0.20204	0	0.59043	0.45803	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	5.88	5.88	0.94564	9.032000	0.93226	11.797000	0.96542	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	20.242	0.98383	863	0.32847	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	6399.44	40	chr2	21012294	.	G	A	6399.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.718;DP=725;ExcessHet=0;FS=1.741;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.8;SOR=0.718	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	6	0	1	0
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R,ATAD2B:NM_017552:exon11:c.A1220G:p.H407R,ATAD2B:NM_001354107:exon12:c.A1262G:p.H421R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	289.31	14	chr2	23864893	.	T	C	289.31	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.963;DP=233;ExcessHet=2.5225;FS=229.459;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.52;ReadPosRankSum=1.86;SOR=8.286	GT:AD:DP:GQ:PL	0/1:44,17:61:25:25,0,437	2	0	4	1
chr2	24308752	24308752	T	C	exonic	ITSN2	.	nonsynonymous SNV	ITSN2:NM_001348182:exon8:c.A658G:p.T220A,ITSN2:NM_001348183:exon8:c.A658G:p.T220A,ITSN2:NM_001348185:exon8:c.A658G:p.T220A,ITSN2:NM_001348186:exon8:c.A658G:p.T220A,ITSN2:NM_006277:exon8:c.A658G:p.T220A,ITSN2:NM_019595:exon8:c.A658G:p.T220A,ITSN2:NM_147152:exon8:c.A658G:p.T220A,ITSN2:NM_001348181:exon9:c.A616G:p.T206A,ITSN2:NM_001348184:exon9:c.A616G:p.T206A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.0161325922324	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1398189526	5.618e-06	6.844e-06	3.16e-06	8.155e-06	4.309e-05	2.34e-06	1.5e-06	1.46e-06	1.06e-06	3.846e-05	4.309e-05	0	0	0	0	4.992e-06	0	0	6.573e-06	6.567e-06	1.285e-05	0	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.609	0.47320	T	0.578	0.29249	T	0.752	0.43309	P	0.422	0.45143	B	0.054664	0.22706	U	0.215836	0.822241	0.36910	D	0.755	0.19153	N	0.22	0.59851	T	-1.13	0.37955	N	0.209	0.25499	-0.9268	0.44602	T	0.120	0.41886	T	10	0.17885607	0.32992	T	0.016133	0.37232	T	0.162	0.41843	0.139	0.04277	0.77901915304	0.77698	0.33039768847127277	0.32952	0.404254080729	0.41333	0.500236690044	0.38860	T	0.044926	0.26964	T	-0.0123644	0.49933	T	-0.255537	0.49268	T	0.500206776801355	0.32637	D	0.80112	0.45053	T	0.050516605	0.09138	0.054184582	0.09272	0.050516605	0.09137	0.054184582	0.09272	-3.717	0.19584	T	.	.	0.081	0.08754	B	.;.;.;.;.	.;.;.;.;.	4.216728	0.63743	24.6	0.97685711145873044	0.35341	0.98974	0.89400	D	AEFBI	0.552992	0.56443	D	0.00742829307412371	0.42193	2.537607	0.135350538671423	0.46371	2.884118	0.908161985352494	0.26277	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	4.554000	0.60470	7.877000	0.72286	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.1554:0.8446	11.049	0.47091	424	0.81215	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	252.94	10	chr2	24308752	.	T	C	252.94	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.2;DP=92;ExcessHet=0;FS=3.09;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=22.99;ReadPosRankSum=2.51;SOR=2.093	GT:AD:DP:GQ:PL	0/0:23,0:23:33:0,33,495	6	0	1	0
chr2	26185202	26185202	T	A	exonic	GAREM2	.	nonsynonymous SNV	GAREM2:NM_001191033:exon3:c.T1123A:p.S375T,GAREM2:NM_001168241:exon4:c.T1354A:p.S452T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.120120597439	.	.	9.756e-05	0	0	0	.	0	0	0.0001	1.94e-05	3	154602	rs758078493	0.0006	0.0006	0.0006	0.0006	0.0007	0.0006	0.0006	0.0006	0.0006	3.426e-05	0.0002	0	0	0.0005	0	0.0007	0.0007	0.0005	0.0004	0.0004	0.0004	0.0003	0.0007	0.0003	0.0003	0.0005	0.0005	9.649e-05	0	0.0003	0	0	9.448e-05	0	0.0007	0	0.0006	0.331	0.20835	T	0.106	0.38160	T	0.455	0.36245	P	0.142	0.33681	B	0.725845	0.09896	N	0.860577	0.659481	0.35848	D	.	.	.	1.49	0.31470	T	-1.18	0.32991	N	0.086	0.07398	-1.0620	0.11263	T	0.070	0.28478	T	10	0.07042697	0.10245	T	0.120121	0.80059	D	0.032	0.07718	0.254	0.19378	0.152612264143	0.14878	0.4465560336644505	0.44573	.	.	0.897597372532	0.96170	D	0.019706	0.15652	T	-0.380089	0.03112	T	-0.436576	0.29193	T	0.0799600161620285	0.09982	T	0.539346	0.18229	T	0.16838692	0.37292	0.14882219	0.35163	0.16838692	0.37292	0.14882219	0.35162	-4.492	0.30784	T	.	.	0.104	0.28057	B	.;.	.;.	1.840421	0.23383	16.00	0.93429843868186901	0.23202	0.93220	0.57638	D	AEFDBHCI	0.281288	0.39490	N	-0.322498365809308	0.28294	1.559511	-0.2779878670959	0.28824	1.610171	0.999999982295296	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.13	2.93	0.33092	2.095000	0.41354	2.497000	0.33011	0.558000	0.28311	0.998000	0.41325	1.000000	0.68203	0.364000	0.25977	0.0:0.0:0.1866:0.8134	9.037	0.35456	693	0.58582	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	53.75	11	chr2	26185202	.	T	A	53.75	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.09;DP=52;ExcessHet=0;FS=6.455;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.97;ReadPosRankSum=2.1;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:7,0:7:18:.:.:0,18,270:.	6	0	1	0
chr2	26318945	26318945	T	A	exonic	ADGRF3	.	nonsynonymous SNV	ADGRF3:NM_001145168:exon1:c.A105T:p.R35S	.	420	1086	16	0	0	16	0.00731261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0081	0.00179712	0.0089	0.0025	0.0049	0	0.0182	0.0132	0.02	0.0052	0.0026002	402	154602	rs150568284	0.0100	0.0096	0.0100	0.0101	0.0111	0.0099	0.0098	0.0109	0.0109	0.0014	0.0023	0.0072	5.597e-05	0.0191	0.0032	0.0111	0.0087	0.0040	0.0087	0.0087	0.0085	0.0089	0.0133	0.0083	0.0081	0.0125	0.0123	0.0019	0.0482	0.0033	0.0069	0	0.0184	0.0034	0.0133	0.0052	0.0037	0.0	0.91255	D	0.0	0.92824	D	0.608	0.39540	P	0.205	0.37080	B	.	.	.	.	1	0.08975	N	.	.	.	0.86	0.46777	T	0.25	0.04456	N	0.28	0.31702	-1.0405	0.17162	T	0.062	0.25994	T	9	0.0037700832	0.00070	T	.	.	.	0.028	0.06331	0.285	0.24280	0.0806252709748	0.07271	0.2029677377988428	0.20213	0.0920708205007	0.10393	0.331719100475	0.15194	T	0.005658	0.05109	T	-0.52663	0.00402	T	-0.514308	0.20874	T	0.0131526524302687	0.00232	T	0.326967	0.06756	T	0.079447314	0.18149	0.1001424	0.23935	0.079447314	0.18149	0.1001424	0.23934	-3.265	0.13290	T	.	.	0.112	0.21803	B	.	.	0.278923	0.06558	3.047	0.92911029127404066	0.22470	0.09647	0.15356	N	AEFDBI	0.146622	0.27011	N	-0.59266275548191	0.19167	1.000974	-0.691292204938467	0.17178	0.9122232	0.99999901924657	0.74766	0.65757	0.49021	0	0.547309	0.14657	0	0.619478	0.44681	0	0.530356	0.10902	0	.	.	4.54	0.783	0.17717	0.125000	0.15577	-0.244000	0.10566	-0.117000	0.14459	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.3657:0.0:0.6343	5.787	0.17603	446	0.79659	.	DRC1	Brain_Nucleus_accumbens_basal_ganglia	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	64.44	35	chr2	26318945	.	T	A	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.05;ReadPosRankSum=-1.718;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1368	6	0	1	0
chr2	26440481	26440481	C	T	exonic	DRC1	.	nonsynonymous SNV	DRC1:NM_145038:exon8:c.C992T:p.T331I	Ciliary dyskinesia, primary, 21, Autosomal recessive	431	1069	21	1	0	23	0.0106432	.	.	.	392850	Primary_ciliary_dyskinesia_21|Primary_ciliary_dyskinesia|not_provided	MONDO:MONDO:0014123,MedGen:C3809087,OMIM:615294,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.135	.	0.0088	0.0071885	0.0056	0.0193	0.0068	0	0.0003	0.0034	0.0044	0.0100	0.0051293	793	154602	rs143181834	0.0039	0.0039	0.0037	0.0040	0.0196	0.0038	0.0037	0.0184	0.0179	0.0196	0.0039	0.0096	0	0.0007	0.0087	0.0029	0.0047	0.0104	0.0074	0.0074	0.0077	0.0071	0.0191	0.0070	0.0069	0.0180	0.0175	0.0191	0	0.0024	0.0078	0	0.0004	0.0034	0.0032	0.0052	0.0070	0.008	0.58626	D	0.092	0.39954	T	1.0	0.90584	D	0.999	0.92359	D	0.019098	0.27335	N	0.434279	0.53729	0.31441	N	3.11	0.87757	M	2.35	0.16217	T	-4.22	0.75854	D	0.272	0.30800	-0.8284	0.53403	T	0.067	0.27640	T	10	0.0047012568	0.00099	T	.	.	.	0.135	0.36572	.	.	0.345859378078	0.34197	0.2995200133479883	0.29865	0.143505027535	0.16199	0.650931835175	0.60118	T	0.04849	0.28032	T	-0.525459	0.00409	T	-0.511966	0.21112	T	0.021392734080505	0.00842	T	0.762724	0.38847	T	0.15863673	0.35679	0.21951956	0.46694	0.15863673	0.35679	0.21951956	0.46693	-9.181	0.68855	D	.	.	0.204	0.42934	B	.	.	3.625471	0.51325	23.1	0.99905336106589349	0.97651	0.81857	0.41179	D	AEFI	0.401446	0.47593	N	0.560431400868571	0.70720	5.543083	0.475017264697382	0.66338	4.939222	0.999440158746165	0.39736	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.17	4.29	0.50359	2.943000	0.48719	2.683000	0.34031	0.599000	0.40250	0.994000	0.38300	0.993000	0.31925	0.941000	0.48210	0.0:0.9204:0.0:0.0796	13.104	0.58650	418	0.81602	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006042	0.015152	0.006793	0.000000	0.000000	0.008621	0.000000	0.003788	0.07143	1976.44	35	chr2	26440481	.	C	T	1976.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.15;DP=416;ExcessHet=0;FS=1.104;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=-1.426;SOR=0.807	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,99,1485	6	0	1	0
chr2	27026325	27026325	C	G	exonic	MAPRE3	.	nonsynonymous SNV	MAPRE3:NM_001303050:exon7:c.C823G:p.Q275E,MAPRE3:NM_012326:exon7:c.C823G:p.Q275E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.00912656706737	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1198147907	9.578e-06	9.577e-06	5.446e-06	1.375e-05	1.259e-05	5.56e-06	4.35e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	0	0	1.971e-05	1.97e-05	3.853e-05	0	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.756	0.03523	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.04355	B	0.004792	0.33389	N	0.190877	0.965823	0.26689	N	1.355	0.33814	L	1.04	0.40218	T	-0.26	0.11185	N	0.214	0.23884	-1.0858	0.06263	T	0.051	0.21572	T	10	0.09753209	0.17572	T	0.009127	0.24012	T	0.124	0.34239	0.137	0.04097	0.293707238958	0.28979	0.13822969165579696	0.13746	0.929316821015	0.71757	0.459808140993	0.33283	T	0.022219	0.17168	T	-0.192125	0.21947	T	-0.513751	0.20931	T	0.77900493144989	0.44988	D	0.839116	0.51273	T	0.16193868	0.36236	0.14433594	0.34271	0.16193868	0.36236	0.14433594	0.34270	-2.974	0.09903	T	.	.	0.066	0.04238	B	.;.;.;.	.;.;.;.	3.131273	0.42311	21.5	0.55870083062710041	0.05432	0.99153	0.92009	D	AEFDBI	0.775287	0.70874	D	-0.336426560608129	0.27774	1.52655	-0.0825400088392692	0.36112	2.097463	0.999999999472186	0.74766	0.706298	0.61202	0	0.577304	0.33150	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.82	4.82	0.61641	6.712000	0.74502	7.615000	0.62066	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	16.737	0.85309	447	0.79583	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2203.44	35	chr2	27026325	.	C	G	2203.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.94;DP=415;ExcessHet=0;FS=0.51;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=0.063;SOR=0.764	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	6	0	1	0
chr2	27470935	27470935	G	C	exonic	IFT172	.	nonsynonymous SNV	IFT172:NM_015662:exon16:c.C1685G:p.T562S	Retinitis pigmentosa 71, Autosomal recessive;Short-rib thoracic dysplasia 10 with or without polydactyly, Autosomal recessive	436	1022	63	1	0	65	0.0308203	.	.	.	451000	not_specified|not_provided|Short-rib_thoracic_dysplasia_10_with_or_without_polydactyly|Retinitis_pigmentosa_71	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014284,MedGen:C3810175,OMIM:615630,Orphanet:474|MONDO:MONDO:0014618,MedGen:C4225342,OMIM:616394,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.159	.	0.0052	0.00279553	0.0072	0.0017	0.0043	0.0001	0.0036	0.0096	0.0139	0.0081	0.0065782	1017	154602	rs61743977	0.0062	0.0062	0.0060	0.0064	0.0378	0.0061	0.0060	0.0336	0.0321	0.0010	0.0046	0.0219	2.533e-05	0.0032	0.0378	0.0060	0.0079	0.0082	0.0049	0.0049	0.0049	0.0049	0.0070	0.0046	0.0045	0.0065	0.0063	0.0010	0	0.0038	0.0196	0	0.0035	0.0612	0.0070	0.0066	0.0064	0.388	0.10909	T	0.14	0.33554	T	0.002	0.09854	B	0.003	0.08700	B	0.000005	0.62929	N	0.108408	0.819621	0.34757	D	0.55	0.14455	N	3.5	0.05014	T	0.26	0.04380	N	0.093	0.07262	-0.8830	0.49521	T	0.007	0.02478	T	10	0.0037594736	0.00070	T	.	.	.	0.159	0.41286	0.406	0.43902	0.112648838833	0.10856	0.1681209475804747	0.16732	0.158194110733	0.17867	0.332134783268	0.15256	T	0.105979	0.41692	T	-0.648558	0.00074	T	-0.699117	0.05874	T	0.0478384942027357	0.05115	T	0.679032	0.28770	T	0.07482146	0.16818	0.11939129	0.28818	0.07310221	0.16309	0.13313392	0.31930	-0.821	0.00821	T	0.05207728016525325	0.00985	0.073	0.04764	B	.	.	2.911773	0.38627	20.8	0.91152418099870303	0.20406	0.99456	0.96256	D	AEFBI	0.880369	0.80696	D	-0.189368090475749	0.33575	1.906461	0.0649026428597816	0.42799	2.595053	0.99999999862882	0.74766	0.706548	0.73137	0	0.670034	0.63936	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	9.142000	0.93794	9.823000	0.81815	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0:0.0:1.0:0.0	17.646	0.88052	72	0.96948	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.026714	0.025253	0.024457	0.040936	0.000000	0.034483	0.030675	0.015152	0.07143	1210.44	37	chr2	27470935	.	G	C	1210.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.174;DP=307;ExcessHet=0;FS=2.416;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=1.59;SOR=0.959	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1185	6	0	1	0
chr2	27472341	27472341	T	A	exonic	IFT172	.	nonsynonymous SNV	IFT172:NM_015662:exon15:c.A1433T:p.N478I	Retinitis pigmentosa 71, Autosomal recessive;Short-rib thoracic dysplasia 10 with or without polydactyly, Autosomal recessive	431	1073	18	0	0	18	0.00831793	.	.	.	655441	not_provided|IFT172-related_disorder|Short-rib_thoracic_dysplasia_10_with_or_without_polydactyly|Retinitis_pigmentosa_71	MedGen:C3661900|.|MONDO:MONDO:0014284,MedGen:C3810175,OMIM:615630,Orphanet:474|MONDO:MONDO:0014618,MedGen:C4225342,OMIM:616394,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.172	.	0.0008	0.00219649	0.0025	0.0004	0.0002	0.0001	0.0008	0.0015	0.0077	0.0115	0.0022898	354	154602	rs143491198	0.0016	0.0016	0.0013	0.0019	0.0120	0.0016	0.0016	0.0114	0.0111	0.0001	0.0002	0.0007	7.557e-05	0.0005	0.0017	0.0011	0.0013	0.0120	0.0009	0.0009	0.0008	0.0010	0.0104	0.0008	0.0007	0.0081	0.0073	0.0001	0	0.0001	0.0009	0	0.0002	0	0.0010	0.0009	0.0104	0.1	0.30515	T	0.106	0.37872	T	0.009	0.15093	B	0.006	0.12133	B	0.000000	0.84330	D	0.042417	0.998953	0.45755	D	1.155	0.29575	L	1.92	0.23082	T	-2.71	0.57762	D	0.858	0.85449	-1.0993	0.04177	T	0.044	0.18783	T	10	0.006679505	0.00151	T	.	.	.	0.172	0.43662	.	.	0.29527378943	0.29149	0.5422393569389612	0.54148	0.231291284145	0.25673	0.467749267817	0.34371	T	0.529917	0.83714	D	-0.402207	0.02239	T	-0.340131	0.40331	T	0.0335657611873292	0.02564	T	0.883212	0.60517	D	0.33794796	0.56115	0.24419864	0.49881	0.38292283	0.59528	0.20657907	0.44877	-7.117	0.58701	T	0.2225428325644516	0.30030	0.134	0.37633	B	.;.;.	.;.;.	3.065820	0.41192	21.3	0.96809773651058384	0.31184	0.99143	0.91861	D	AEFDBI	0.575185	0.57768	D	-0.115689624455432	0.36710	2.125554	0.0693025319933335	0.43015	2.612065	0.981649734856931	0.30291	0.706548	0.73137	0	0.670034	0.63936	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.69	4.54	0.55220	5.606000	0.67324	6.103000	0.53575	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.1581:0.0:0.8419	8.490	0.32255	72	0.96948	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.015152	0.07143	384.63	47	chr2	27472341	.	T	A	384.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.305;DP=222;ExcessHet=0;FS=4.273;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.18;ReadPosRankSum=0.58;SOR=1.394	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1259	6	0	1	0
chr2	27497574	27497574	G	A	exonic	GCKR	.	nonsynonymous SNV	GCKR:NM_001486:exon3:c.G229A:p.E77K	.	.	.	.	.	.	.	.	.	.	.	2349284	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.197	0.038039092514	.	.	7.414e-05	9.614e-05	0	0.0002	0	7.492e-05	0	6.056e-05	7.76e-05	12	154602	rs771795298	3.835e-05	3.899e-05	4.089e-05	3.579e-05	7.558e-05	3.029e-05	2.722e-05	2.832e-05	2.511e-05	5.981e-05	2.236e-05	0	7.558e-05	0	0	3.782e-05	8.287e-05	3.48e-05	5.917e-05	5.912e-05	6.426e-05	5.383e-05	8.82e-05	3.079e-05	2.211e-05	3.762e-05	2.575e-05	4.831e-05	0	6.546e-05	0	0	0	0	8.82e-05	0	0	0.122	0.27663	T	0.447	0.13066	T	.	.	.	.	.	.	0.049948	0.23115	N	0.384912	1	0.30112	N	.	.	.	-1.19	0.78427	T	-1.3	0.32991	N	0.457	0.49420	-0.6653	0.62041	T	0.255	0.62530	T	10	0.12969956	0.24679	T	0.038039	0.57982	D	0.197	0.47942	.	.	0.711850230672	0.70933	0.337240735832642	0.33637	0.0818096554689	0.09213	0.439296364784	0.30480	T	0.256495	0.62741	T	-0.176857	0.24204	T	-0.266117	0.48211	T	0.0196400757108767	0.00667	T	0.777122	0.41012	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07937	B	.;.	.;.	2.754873	0.36121	20.2	0.96752305113362547	0.30965	0.48607	0.28245	N	AEFDBI	0.225101	0.34924	N	-0.595036056173321	0.19094	0.996675	-0.553664089679678	0.20709	1.116965	0.999998007997821	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.491513	0.07944	0	0.567892	0.33627	0	.	.	4.28	3.4	0.38031	1.808000	0.38550	2.190000	0.31200	-0.128000	0.13240	0.754000	0.29177	0.978000	0.30204	0.369000	0.26088	0.0997:0.0:0.9003:0.0	10.178	0.42126	74	0.96871	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1048.63	33	chr2	27497574	.	G	A	1048.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.677;DP=269;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=0.29;SOR=0.636	GT:AD:DP:GQ:PL	0/1:41,44:85:99:1059,0,910	6	0	1	0
chr2	28582447	28582447	G	A	exonic	PLB1	.	nonsynonymous SNV	PLB1:NM_001170585:exon24:c.G1642A:p.V548I,PLB1:NM_153021:exon25:c.G1675A:p.V559I	.	425	1092	5	0	0	5	0.00228415	.	.	.	708214	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.009	.	0.0060	0.0175719	0.0085	0.0212	0.0014	0.0001	0	0.0002	0.0013	0.0465	0.0064812	1002	154602	rs72863353	0.0029	0.0029	0.0019	0.0039	0.0364	0.0028	0.0028	0.0353	0.0349	0.0183	0.0013	7.66e-05	0	1.873e-05	0.0033	0.0001	0.0032	0.0364	0.0068	0.0069	0.0066	0.0071	0.0420	0.0065	0.0064	0.0373	0.0355	0.0188	0	0.0020	0	0.0006	0	0.0034	0.0003	0.0033	0.0420	0.55	0.08310	T	0.53	0.13177	T	0.004	0.12183	B	0.005	0.11217	B	0.263387	0.03724	N	1.461700	1	0.08975	N	0.2	0.09183	N	2.71	0.13673	T	-0.28	0.13611	N	0.091	0.06990	-1.0021	0.29313	T	0.007	0.02282	T	10	0.002343744	0.00034	T	.	.	.	0.009	0.00846	.	.	0.0401082797425	0.02173	0.14974680713746105	0.14896	0.0366873833689	0.03882	0.297369837761	0.10010	T	0.006537	0.09982	T	-0.665473	0.00058	T	-0.700819	0.05781	T	0.000931852727494175	0.00009	T	0.562944	0.19809	T	0.01936526	0.00465	0.022301018	0.00257	0.01936526	0.00465	0.022301018	0.00257	-1.665	0.27726	T	.	.	0.076	0.05756	B	.;.;.	.;.;.	-2.180905	0.00067	0.001	0.5847849053647014	0.06002	0.00905	0.03541	N	AEFDGBI	0.034946	0.04417	N	-1.68309521886783	0.00903	0.03909684	-1.76486838012279	0.00878	0.0392649	0.999999999748264	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.51	-9.64	0.00453	-2.084000	0.01451	-5.180000	0.01817	-0.946000	0.02057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2921:0.1041:0.4:0.2039	2.958	0.05522	665	0.61472	GDSL lipase/esterase|Phospholipase B;.;GDSL lipase/esterase|Phospholipase B	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008056	0.005051	0.008152	0.008772	0.000000	0.000000	0.003049	0.022727	0.07143	692.44	59	chr2	28582447	.	G	A	692.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.648;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.683;SOR=0.611	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1325	6	0	1	0
chr2	29071387	29071387	C	T	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.G2875A:p.A959T	.	0	1477	45	0	0	45	0.015005	.	.	.	190306	not_provided|Retinitis_pigmentosa|not_specified|Retinitis_pigmentosa_54	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN169374|MONDO:MONDO:0013263,MedGen:C3150691,OMIM:613428,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.032	.	0.0021	0.00199681	0.0037	0.0003	0.0017	0	0.0002	0.0033	0.0101	0.0114	0.0032082	496	154602	rs192350796	0.0022	0.0022	0.0018	0.0026	0.0149	0.0021	0.0021	0.0124	0.0114	0.0002	0.0016	0.0419	7.557e-05	1.884e-05	0.0149	0.0006	0.0049	0.0113	0.0017	0.0017	0.0019	0.0016	0.0112	0.0016	0.0015	0.0088	0.0079	0.0002	0	0.0009	0.0354	0	0	0.0034	0.0008	0.0024	0.0112	0.21	0.19639	T	0.042	0.50226	D	0.0	0.02946	B	0.0	0.01387	B	0.059117	0.22349	N	0.470567	1	0.08975	N	.	.	.	2.19	0.18724	T	-0.35	0.12847	N	0.025	0.00485	-1.0499	0.14425	T	0.027	0.11663	T	10	0.0031301677	0.00052	T	.	.	.	0.032	0.07718	.	.	0.0762999501168	0.06990	0.20868877635627958	0.20784	0.0131637018963	0.01267	.	.	.	0.00331	0.02718	T	-0.736029	0.00022	T	-0.819643	0.01459	T	0.00118835454009417	0.00012	T	0.372463	0.08834	T	0.034804296	0.03976	0.04977026	0.07674	0.034804296	0.03976	0.04977026	0.07674	-3.255	0.13164	T	.	.	0.075	0.05491	B	.	.	-0.016922	0.04166	1.003	0.91811588158027524	0.21119	0.28666	0.23616	N	AEFDBI	0.062690	0.12068	N	-1.30519563939344	0.03616	0.1617998	-1.29433697293488	0.04506	0.2127163	0.101484047320148	0.16380	0.497415	0.19182	0	0.573078	0.20572	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.41	-1.3	0.08777	0.679000	0.24971	-0.134000	0.11587	-1.285000	0.01264	0.192000	0.24212	0.000000	0.08366	0.017000	0.10941	0.062:0.325:0.3825:0.2304	5.796	0.17653	449	0.79428	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007049	0.000000	0.004076	0.005848	0.000000	0.008621	0.012195	0.015152	0.07143	1172.44	99	chr2	29071387	.	C	T	1172.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.545;DP=336;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=0.942;SOR=0.657	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1445	6	0	1	0
chr2	29071533	29071533	C	T	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.G2729A:p.S910N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00484762736987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.06125	T	0.428	0.13792	T	0.01	0.15535	B	0.009	0.14300	B	0.729547	0.09867	N	0.889170	1	0.08975	N	.	.	.	2.18	0.18875	T	-0.65	0.18877	N	0.051	0.02272	-0.9622	0.38761	T	0.025	0.10777	T	10	0.04481703	0.03482	T	0.004848	0.12161	T	0.039	0.10176	0.193	0.10437	0.12205267543	0.11705	0.08876646316841813	0.08809	0.0141472348956	0.01351	.	.	.	0.003855	0.03262	T	-0.409792	0.01994	T	-0.826415	0.01327	T	0.0180650968104601	0.00529	T	0.335866	0.07168	T	0.0382702	0.05067	0.043495454	0.05425	0.0382702	0.05066	0.043495454	0.05424	-5.273	0.39675	T	.	.	0.112	0.21877	B	.	.	0.294828	0.06710	3.216	0.1995794971397955	0.00697	0.04057	0.09505	N	AEFDBI	0.051113	0.09000	N	-1.30456236435165	0.03622	0.1621394	-1.28452641595779	0.04639	0.2192845	0.0867893587662067	0.16018	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.71	0.050	0.13605	0.070000	0.14440	-1.121000	0.06268	-0.316000	0.05924	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2496:0.4681:0.0:0.2823	4.951	0.13363	449	0.79428	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	125.44	44	chr2	29071533	.	C	T	125.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.087;DP=280;ExcessHet=0;FS=2.463;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-0.618;SOR=0.76	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1445	6	0	1	0
chr2	29072199	29072199	C	T	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.G2063A:p.C688Y	.	0	1519	3	0	0	3	0.000986518	.	.	.	190311	not_specified|Retinitis_pigmentosa_54|not_provided|Retinitis_pigmentosa	MedGen:CN169374|MONDO:MONDO:0013263,MedGen:C3150691,OMIM:613428,Orphanet:791|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.089	0.00405969704313	0.0057	0.00239617	0.0044	0.0011	0.0041	0	0.0018	0.0068	0	0.0007	0.0046636	721	154602	rs149601594	0.0067	0.0067	0.0069	0.0065	0.0078	0.0066	0.0065	0.0076	0.0076	0.0009	0.0054	0.0142	0	0.0013	0.0007	0.0078	0.0061	0.0008	0.0054	0.0054	0.0055	0.0052	0.0095	0.0051	0.0049	0.0082	0.0077	0.0016	0.0319	0.0095	0.0161	0	0.0006	0	0.0074	0.0047	0.0006	0.032	0.44694	D	0.035	0.52389	D	0.911	0.50336	P	0.461	0.46460	P	0.264338	0.15252	N	0.671334	1	0.08975	N	.	.	.	2.09	0.20122	T	-6.84	0.93060	D	0.333	0.37405	-1.0539	0.13332	T	0.041	0.17785	T	10	0.0038235188	0.00072	T	0.00406	0.09681	T	0.089	0.25827	.	.	0.458554320643	0.45480	0.07903321994906204	0.07838	0.0438230425045	0.04719	.	.	.	0.035906	0.23900	T	-0.54078	0.00331	T	-0.542747	0.18027	T	0.0515074829785998	0.05762	T	0.590841	0.21745	T	0.2187379	0.44389	0.31928664	0.57891	0.2187379	0.44389	0.31928664	0.57890	-3.666	0.18818	T	.	.	0.142	0.31100	B	.	.	2.051355	0.26077	16.99	0.71378488349486868	0.09609	0.04747	0.10450	N	AEFDBI	0.036722	0.04940	N	-0.0474609709657713	0.39715	2.346608	-0.127191390327846	0.34299	1.971352	0.557296018852192	0.21384	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.76	4.84	0.62125	0.333000	0.19512	0.586000	0.19767	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.197000	0.21808	0.1064:0.6421:0.1789:0.0726	7.794	0.28302	449	0.79428	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.000000	0.07143	448.44	44	chr2	29072199	.	C	T	448.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.794;DP=769;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.175;SOR=0.904	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1445	6	0	1	0
chr2	30787235	30787235	T	C	exonic	CAPN13	.	nonsynonymous SNV	CAPN13:NM_144575:exon2:c.A91G:p.M31V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00257303341295	.	.	1.07e-05	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs756367275	4.794e-06	4.788e-06	5.449e-06	4.131e-06	7.56e-05	1.99e-06	1.28e-06	2.004e-05	1.055e-05	0	0	0	7.56e-05	0	0	2.699e-06	0	1.169e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.19854	T	0.213	0.26467	T	0.0	0.02946	B	0.0	0.01387	B	0.482788	0.12146	N	0.776377	1	0.08975	N	0	0.06538	N	2.47	0.14783	T	-1.17	0.29933	N	0.08	0.05542	-0.9686	0.37489	T	0.015	0.06042	T	10	0.037073255	0.02040	T	0.002573	0.05178	T	0.014	0.01968	0.23	0.15705	0.0954503805726	0.09146	0.11309105383199278	0.11237	0.0611906365499	0.06815	0.22857286036	0.01864	T	0.012159	0.10734	T	-0.549871	0.00292	T	-0.801926	0.01854	T	0.0405409216770903	0.03789	T	0.205479	0.02425	T	0.076382734	0.17271	0.08091699	0.18347	0.076382734	0.17271	0.08091699	0.18346	-3.453	0.15780	T	.	.	0.069	0.03162	B	.	.	0.071787	0.04800	1.410	0.33980224504605178	0.02054	0.07341	0.13362	N	AEFBI	0.117624	0.23034	N	-1.51095122113582	0.01777	0.07786362	-1.45974774981112	0.02683	0.1238597	0.301330053488955	0.19192	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.91	-1.42	0.08446	0.051000	0.14025	0.630000	0.20219	-2.600000	0.00235	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0773:0.5587:0.364	8.751	0.33776	814	0.42100	Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1144.44	39	chr2	30787235	.	T	C	1144.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.621;DP=300;ExcessHet=0;FS=2.478;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=0.23;SOR=0.477	GT:AD:DP:GQ:PL	0/1:59,53:112:99:1155,0,1523	6	0	1	0
chr2	30787266	30787266	G	T	exonic	CAPN13	.	nonsynonymous SNV	CAPN13:NM_144575:exon2:c.C60A:p.D20E	.	423	1072	24	3	0	30	0.0137994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	.	0.0008	0.00159744	0.0020	0.0002	0.0005	0.0001	0	0.0009	0.0013	0.0108	0.0014877	230	154602	rs186665118	0.0012	0.0012	0.0009	0.0015	0.0099	0.0012	0.0011	0.0094	0.0091	0.0001	0.0004	0.0038	0	0.0001	0.0057	0.0006	0.0013	0.0099	0.0008	0.0008	0.0007	0.0010	0.0064	0.0007	0.0007	0.0046	0.0040	0.0001	0	0.0008	0.0023	0.0002	9.409e-05	0.0102	0.0009	0.0019	0.0064	0.0	0.91255	D	0.009	0.66756	D	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.992115	0.41558	D	2.8	0.81625	M	2.27	0.17431	T	-3.52	0.68412	D	0.389	0.43029	-0.9605	0.39087	T	0.123	0.42462	T	10	0.01113826	0.00245	T	.	.	.	0.286	0.60456	0.488	0.57257	0.433600339574	0.42977	0.13155275051212412	0.13080	0.371328992948	0.38632	0.471630513668	0.34905	T	0.137041	0.46976	T	-0.391703	0.02623	T	-0.328181	0.41672	T	0.0686771185556789	0.08464	T	0.665633	0.27494	T	0.68386453	0.77178	0.5323688	0.72979	0.68386453	0.77179	0.5323688	0.72980	-7.263	0.55932	T	.	.	0.51	0.65033	A	.	.	2.903207	0.38485	20.7	0.99652407849805069	0.77380	0.91318	0.53292	D	AEFBI	0.382236	0.46420	N	0.609953128654248	0.73804	6.026306	0.505260276834116	0.68344	5.207073	0.863488335061286	0.25272	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.91	4.09	0.47038	1.732000	0.37769	2.946000	0.35689	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.033000	0.13494	0.1434:0.0:0.8566:0.0	8.962	0.35013	814	0.42100	Peptidase C2, calpain, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.002924	0.000000	0.025862	0.006098	0.011364	0.07143	958.44	39	chr2	30787266	.	G	T	958.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.887;DP=342;ExcessHet=0;FS=1.588;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=0.735;SOR=0.765	GT:AD:DP:GQ:PL	0/0:91,0:91:99:0,120,1800	6	0	1	0
chr2	31344696	31344696	G	A	exonic	XDH	.	nonsynonymous SNV	XDH:NM_000379:exon31:c.C3392T:p.T1131I	Xanthinuria, type I, Autosomal recessive	1	1517	4	0	0	4	0.00131666	.	.	.	1041445	Xanthinuria_type_II	MONDO:MONDO:0011346,MedGen:C1863688,OMIM:603592,Orphanet:3467,Orphanet:93602	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.247	0.0451964212307	.	0.000199681	1.649e-05	0	0	0	0	2.998e-05	0	0	3.88e-05	6	154602	rs550042471	1.642e-05	1.642e-05	1.497e-05	1.788e-05	0.0003	1.111e-05	9.33e-06	6.105e-05	2.662e-05	0	0	0	0	0	0.0003	1.169e-05	3.312e-05	8.116e-05	1.313e-05	1.312e-05	2.569e-05	0	6.539e-05	2.18e-06	8.2e-07	.	.	0	0	6.539e-05	0	0	0	0	1.47e-05	0	0	0.043	0.41364	D	0.064	0.44905	T	0.934	0.52202	P	0.829	0.59562	P	0.000000	0.84330	D	0.047568	0.99997	0.53665	D	2.8	0.81625	M	1.12	0.38718	T	-5.14	0.83292	D	0.563	0.58713	-0.5409	0.67129	T	0.251	0.62073	T	10	0.5834513	0.65978	D	0.045196	0.61862	D	0.247	0.55478	0.653	0.79068	0.822480460658	0.82080	0.667944637026241	0.66732	0.246457987376	0.27182	0.521888971329	0.41892	T	0.169978	0.51756	T	-0.14581	0.28969	T	-0.316772	0.42927	T	0.971083641052246	0.69185	D	0.965103	0.87078	D	0.75230724	0.81002	0.69646376	0.82126	0.75230724	0.81004	0.69646376	0.82127	-8.492	0.64376	D	.	.	0.385	0.58715	A	.	.	4.878643	0.79994	27.2	0.99884984404738897	0.96049	0.96818	0.71104	D	AEFGBI	0.695988	0.65448	D	0.684857509919837	0.78641	6.912493	0.656326261579261	0.79082	7.007906	0.999985617668727	0.51787	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.11	5.11	0.69188	4.577000	0.60633	11.631000	0.93702	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.858000	0.40661	0.0:0.0:1.0:0.0	16.698	0.85200	940	0.13648	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1038.63	34	chr2	31344696	.	G	A	1038.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.942;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.371;SOR=0.646	GT:AD:DP:GQ:PL	0/1:39,46:85:99:1049,0,896	6	0	1	0
chr2	31368651	31368651	C	T	exonic	XDH	.	nonsynonymous SNV	XDH:NM_000379:exon19:c.G1990A:p.V664I	Xanthinuria, type I, Autosomal recessive	1	1513	8	0	0	8	0.00263678	.	.	.	286825	Xanthinuria_type_II|XDH-related_disorder|Hereditary_xanthinuria_type_1	MONDO:MONDO:0011346,MedGen:C1863688,OMIM:603592,Orphanet:3467,Orphanet:93602|.|MONDO:MONDO:0010209,MedGen:C0268118,OMIM:278300,Orphanet:3467,Orphanet:93601	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.045	.	7.7e-05	0.00599042	0.0030	0.0003	0.0003	0.0021	0	0	0.0033	0.0208	0.0027037	418	154602	rs201301387	0.0013	0.0013	0.0008	0.0018	0.0200	0.0012	0.0012	0.0192	0.0189	8.961e-05	2.236e-05	3.826e-05	0.0009	0	0.0007	1.978e-05	0.0017	0.0200	0.0007	0.0007	0.0003	0.0011	0.0195	0.0006	0.0006	0.0163	0.0151	9.622e-05	0	0	0	0.0017	0	0	0	0	0.0195	0.153	0.24372	T	0.121	0.35840	T	0.005	0.12996	B	0.036	0.22909	B	0.000028	0.55875	N	0.157599	0.999742	0.48716	D	1.23	0.30720	L	2.6	0.13204	T	-0.54	0.16598	N	0.305	0.34444	-1.0722	0.08936	T	0.030	0.12848	T	10	0.014647812	0.00308	T	.	.	.	0.045	0.12272	.	.	0.200317383148	0.19677	0.5471133804796633	0.54637	0.0346011059205	0.03640	0.25664794445	0.04499	T	0.03551	0.23746	T	-0.609397	0.00128	T	-0.631213	0.10323	T	0.0138443788365512	0.00262	T	0.90351	0.66162	D	0.1408102	0.32473	0.13624482	0.32599	0.1408102	0.32473	0.13624482	0.32598	-6.266	0.48453	T	.	.	0.071	0.03811	B	.	.	1.328819	0.17335	13.10	0.98842861328331999	0.47152	0.84071	0.43156	D	AEFBI	0.202994	0.32954	N	-0.300878388046577	0.29115	1.61177	-0.163831632264861	0.32878	1.875024	0.350842014667173	0.19681	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.17	2.25	0.27340	0.651000	0.24559	-0.422000	0.09278	0.599000	0.40250	0.996000	0.39380	0.001000	0.17328	0.976000	0.56436	0.0:0.7108:0.0:0.2892	9.795	0.39898	879	0.29470	Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead|Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.003788	0.07143	371.63	36	chr2	31368651	.	C	T	371.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.398;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.08;ReadPosRankSum=-0.315;SOR=0.562	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1046	6	0	1	0
chr2	33527173	33527173	G	A	exonic	RASGRP3	.	nonsynonymous SNV	RASGRP3:NM_015376:exon9:c.G844A:p.G282S,RASGRP3:NM_001139488:exon10:c.G844A:p.G282S,RASGRP3:NM_001349976:exon10:c.G844A:p.G282S,RASGRP3:NM_001349979:exon10:c.G844A:p.G282S,RASGRP3:NM_001349981:exon10:c.G844A:p.G282S,RASGRP3:NM_001349977:exon11:c.G844A:p.G282S,RASGRP3:NM_001349978:exon11:c.G844A:p.G282S,RASGRP3:NM_001349980:exon11:c.G844A:p.G282S,RASGRP3:NM_170672:exon11:c.G844A:p.G282S,RASGRP3:NM_001349975:exon12:c.G844A:p.G282S	.	437	1038	46	1	0	48	0.0225989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	.	0.0034	0.00758786	0.0090	0.0005	0.0045	0.0002	0.0091	0.0063	0.0067	0.0328	0.0080982	1252	154602	rs142000180	0.0068	0.0068	0.0057	0.0079	0.0341	0.0067	0.0067	0.0331	0.0327	0.0010	0.0035	0.0079	7.557e-05	0.0100	0.0149	0.0051	0.0064	0.0341	0.0056	0.0056	0.0050	0.0063	0.0317	0.0053	0.0052	0.0276	0.0261	0.0010	0.0197	0.0075	0.0052	0.0006	0.0090	0.0136	0.0058	0.0071	0.0317	0.443	0.09346	T	0.499	0.11371	T	0.977	0.58535	D	0.624	0.51529	P	0.000013	0.62929	D	0.115113	0.999975	0.53665	D	0.425	0.12573	N	1.59	0.28836	T	-1.32	0.32991	N	0.441	0.50146	-1.1311	0.01730	T	0.056	0.23639	T	10	0.012260407	0.00264	T	.	.	.	0.115	0.32236	.	.	0.780878195205	0.77885	0.4263522460405728	0.42552	0.415926434887	0.42235	0.638891577721	0.58407	T	0.243467	0.61240	T	-0.428832	0.01506	T	-0.364389	0.37544	T	0.0262038062900292	0.01433	T	0.932007	0.74652	D	0.15598223	0.35224	0.1770133	0.40274	0.15598223	0.35223	0.1770133	0.40273	-6.348	0.49463	T	.	.	0.133	0.33573	B	.;.;.	.;.;.	5.768798	0.93468	33	0.99802962190873989	0.88728	0.88528	0.48498	D	AEFBCI	0.848698	0.76552	D	0.50070749462653	0.67131	5.041035	0.597081224363905	0.74730	6.186954	0.999994411967859	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.573888	0.23631	0	0.579976	0.35079	0	.	.	5.74	5.74	0.90070	7.764000	0.84130	10.029000	0.83162	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	19.940	0.97160	760	0.50470	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.005051	0.006793	0.002924	0.000000	0.000000	0.015244	0.034091	0.07143	1032.63	34	chr2	33527173	.	G	A	1032.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.393;DP=267;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-0.307;SOR=0.627	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1267	6	0	1	0
chr2	37000618	37000618	G	A	exonic	HEATR5B	.	nonsynonymous SNV	HEATR5B:NM_019024:exon33:c.C5513T:p.T1838M	.	425	1089	7	1	0	9	0.00411523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.0596738735313	.	0.000599042	0.0002	0	0.0002	0.0001	0.0002	7.492e-05	0	0.0008	0.0001682	26	154602	rs573360324	0.0001	0.0001	8.712e-05	0.0001	0.0050	8.982e-05	8.466e-05	0.0036	0.0031	2.987e-05	8.944e-05	3.826e-05	0.0001	3.744e-05	0.0050	5.126e-05	0.0002	0.0005	0.0001	0.0001	0.0001	9.402e-05	0.0008	6.508e-05	5.32e-05	0.0003	0.0002	4.811e-05	0	0.0002	0	0.0002	0	0	7.351e-05	0.0005	0.0008	0.003	0.68238	D	0.004	0.74150	D	0.988	0.62325	D	0.796	0.58006	P	0.000000	0.84330	D	0.048499	0.999594	0.47742	D	1.87	0.49600	L	-0.11	0.64445	T	-2.4	0.52776	N	0.674	0.68169	-0.6993	0.60472	T	0.295	0.66621	T	10	0.23235238	0.40229	T	0.059674	0.67744	D	0.264	0.57741	0.574	0.69826	0.664534855796	0.66171	0.49783856728581144	0.49704	0.322653114565	0.34449	0.679725587368	0.64229	T	0.219124	0.58204	T	-0.219924	0.18004	T	-0.182597	0.56283	T	0.155099973082542	0.17502	T	0.970603	0.89432	D	0.27708372	0.50767	0.3058479	0.56611	0.27708372	0.50767	0.3058479	0.56610	-5.838	0.44904	T	.	.	0.216	0.44527	B	.	.	5.213600	0.87485	29.3	0.99898289654015038	0.97048	0.84854	0.43946	D	AEFGBHCI	0.639722	0.61767	D	0.530252532175788	0.68889	5.27954	0.555560019934852	0.71786	5.708084	0.999999995716014	0.74766	0.75658	0.98901	0	0.724815	0.89359	0	0.724815	0.87919	0	0.656636	0.63459	0	.	.	5.17	5.17	0.70848	7.042000	0.76286	11.652000	0.93894	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.677	0.91494	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.005051	0.001359	0.014620	0.000000	0.017241	0.000000	0.000000	0.07143	1640.45	33	chr2	37000618	.	G	A	1640.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.106;DP=310;ExcessHet=0;FS=7.599;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=1.23;SOR=0.553	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1168	6	0	1	0
chr2	38071251	38071251	C	T	exonic	CYP1B1	.	nonsynonymous SNV	CYP1B1:NM_000104:exon3:c.G1103A:p.R368H	Anterior segment dysgenesis 6, multiple subtypes;Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, Autosomal recessive	0	1399	110	13	0	136	0.0463531	.	.	YES	22778	Anterior_segment_dysgenesis_6|Glaucoma_3A|Glaucoma_3,_primary_infantile,_B|Congenital_ocular_coloboma|Irido-corneo-trabecular_dysgenesis|not_specified|Primary_congenital_glaucoma|Glaucoma,_early-onset,_digenic|not_provided|CYP1B1-related_disorder|Myopathy,_centronuclear,_5|Congenital_glaucoma	MONDO:MONDO:0015016,MedGen:C4310623,OMIM:617315|MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975,Orphanet:98976|Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194|Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708|MedGen:CN169374|Human_Phenotype_Ontology:HP:0008007,MONDO:MONDO:0000365,MedGen:C1533041|MedGen:C4016760|MedGen:C3661900|MedGen:CN239260|MONDO:MONDO:0014418,MedGen:C4014814,OMIM:615959,Orphanet:169186|MONDO:MONDO:0020366,MedGen:C0020302	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.751	.	0.0016	0.00419329	0.0062	0.0004	0.0033	0	0	0.0029	0.0138	0.0294	0.0050646	783	154602	rs79204362	0.0032	0.0032	0.0022	0.0043	0.0311	0.0032	0.0031	0.0302	0.0298	0.0005	0.0021	0.0205	5.038e-05	7.643e-05	0.0236	0.0009	0.0041	0.0311	0.0020	0.0020	0.0016	0.0025	0.0245	0.0018	0.0018	0.0209	0.0195	0.0005	0	0.0012	0.0179	0	0	0.0205	0.0011	0.0047	0.0245	.	.	.	0.01	0.65728	D	.	.	.	.	.	.	0.000000	0.84330	D	0.050909	0.999999	0.58761	A	3.06	0.86941	M	.	.	.	.	.	.	0.819	0.85132	0.251	0.86759	D	0.577	0.84738	D	9	0.009640098	0.00217	T	.	.	.	.	.	.	.	0.341696514166	0.33777	0.8175150785253305	0.81708	.	.	0.417915016413	0.27551	T	0.59259	0.86824	D	0.0961558	0.63873	D	0.388342	0.91724	D	0.0597581842735867	0.07131	T	0.933807	0.75196	D	0.90570295	0.91898	0.68082505	0.81245	0.8872861	0.90276	0.8142974	0.89175	-9.232	0.69178	D	.	.	0.200	0.42404	B	.;.	.;.	5.330663	0.89461	30	0.99942312783438658	0.99824	0.96543	0.69666	D	AEFDGBCI	0.942825	0.94789	D	0.728153233663213	0.81478	7.531585	0.629670928743175	0.77105	6.615648	1.0	0.98316	0.542737	0.22433	0	0.685571	0.66316	0	0.401104	0.06395	2	0.530356	0.10902	0	.	.	5.65	5.65	0.86881	7.798000	0.84489	7.710000	0.66754	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:1.0:0.0:0.0	17.194	0.86768	914	0.21048	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013650	0.005051	0.005435	0.017544	0.050000	0.025862	0.015528	0.026515	0.1429	4265.22	152	chr2	38071251	.	C	T	4265.22	.	AC=2;AF=0.143;AN=14;DP=398;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=28.06;SOR=0.861	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	6	1	0	0
chr2	38733519	38733519	G	A	exonic	GALM	.	nonsynonymous SNV	GALM:NM_138801:exon7:c.G983A:p.G328D	.	423	1092	6	1	0	8	0.00364964	.	.	.	1632173	not_provided|GALM-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.380	.	.	0.00199681	0.0009	0	0.0003	0	0	0.0001	0.0011	0.0063	0.0008409	130	154602	rs575045929	0.0005	0.0005	0.0003	0.0006	0.0061	0.0004	0.0004	0.0057	0.0055	0	6.708e-05	0	0	0	0.0038	8.184e-05	0.0005	0.0061	0.0003	0.0003	0.0002	0.0004	0.0062	0.0002	0.0002	0.0045	0.0039	2.406e-05	0	0	0	0	0	0.0034	7.349e-05	0.0009	0.0062	0.013	0.53900	D	0.061	0.46182	T	0.262	0.31549	B	0.179	0.35808	B	0.000797	0.41772	N	0.237881	0.999999	0.58761	D	2.33	0.66821	M	-0.46	0.70014	T	-5.75	0.88148	D	0.326	0.40465	-0.6464	0.62870	T	0.244	0.61260	T	10	0.016306251	0.00343	T	.	.	.	0.380	0.69780	0.858	0.95662	0.742616433148	0.74030	0.6697910710981158	0.66917	0.150691142447	0.16997	0.485783576965	0.36855	T	0.41264	0.76674	T	-0.300183	0.08642	T	-0.200243	0.54624	T	0.150125729852697	0.17113	T	0.872913	0.58047	D	0.6360399	0.74620	0.65386903	0.79739	0.6360399	0.74621	0.65386903	0.79740	-6.175	0.47720	T	0.2819811291314069	0.37743	0.153	0.45470	B	.;.	.;.	3.313343	0.45536	22.1	0.99573893713976513	0.72561	0.93769	0.59138	D	AEFDBI	0.692442	0.65210	D	0.0887197765973293	0.45937	2.842006	0.176924047384255	0.48586	3.072496	0.996869541140098	0.35072	0.744818	0.98587	0	0.723133	0.82719	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.17	4.26	0.49832	4.371000	0.59294	5.716000	0.49448	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.182:0.0:0.818:0.0	8.718	0.33584	867	0.32089	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	734.53	33	chr2	38733519	.	G	A	734.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.28;DP=243;ExcessHet=0;FS=0.919;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=0.74;SOR=0.538	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1260	6	0	1	0
chr2	38798357	38798357	G	A	exonic	DHX57	.	nonsynonymous SNV	DHX57:NM_001329963:exon24:c.C3797T:p.T1266M,DHX57:NM_198963:exon24:c.C4103T:p.T1368M	.	430	1083	9	0	0	9	0.00413793	.	.	.	2815700	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	0.00336934458306	0.0041	0.00139776	0.0042	0.0008	0.0017	0	0.0041	0.0057	0.0044	0.0042	0.0041785	646	154602	rs61757607	0.0053	0.0054	0.0053	0.0054	0.0061	0.0052	0.0052	0.0059	0.0059	0.0008	0.0022	0.0038	0	0.0036	0.0014	0.0061	0.0037	0.0049	0.0035	0.0035	0.0034	0.0036	0.0054	0.0032	0.0031	0.0049	0.0047	0.0010	0	0.0029	0.0061	0	0.0030	0.0034	0.0054	0.0014	0.0043	.	.	.	0.153	0.32144	T	0.026	0.19406	B	0.009	0.14300	B	0.013012	0.28981	N	0.238942	1	0.08975	N	1.245	0.31408	L	.	.	.	.	.	.	0.086	0.06322	-0.9093	0.46940	T	0.004	0.01470	T	10	0.008805484	0.00199	T	0.003369	0.07542	T	.	.	.	.	0.43965937752	0.43585	0.25701745062732984	0.25615	.	.	0.319938540459	0.13412	T	0.034557	0.23370	T	-0.478024	0.00760	T	-0.455699	0.27068	T	0.00334942706796963	0.00035	T	0.751425	0.37327	T	0.01902361	0.00427	0.04860193	0.07254	0.01902361	0.00427	0.04860193	0.07254	-4.81	0.34708	T	.	.	0.082	0.08899	B	.	.	2.033044	0.25837	16.91	0.95956459599918542	0.28286	0.65038	0.32604	D	AEFDGBHI	0.106249	0.21205	N	-0.529976853697506	0.21116	1.118255	-0.466855505759159	0.23072	1.256386	0.999669285427071	0.41534	0.706548	0.73137	0	0.724815	0.89359	0	0.80507	0.99327	0	0.635259	0.50027	0	.	.	5.42	2.62	0.30337	2.208000	0.42436	3.916000	0.40440	0.671000	0.69459	0.994000	0.38300	1.000000	0.68203	0.735000	0.35267	0.2097:0.1226:0.6676:0.0	7.405	0.26160	629	0.65079	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.001359	0.002924	0.050000	0.000000	0.003049	0.000000	0.07143	888.68	62	chr2	38798357	.	G	A	888.68	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.28;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=-0.007;SOR=0.678	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1086	6	0	1	0
chr2	38959849	38959849	T	C	exonic	ARHGEF33	.	nonsynonymous SNV	ARHGEF33:NM_001145451:exon16:c.T1544C:p.M515T,ARHGEF33:NM_001367623:exon16:c.T1544C:p.M515T	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.0174075369126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.168e-07	6.84e-07	0	1.455e-06	1.27e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.27e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.129	0.34837	T	.	.	.	.	.	.	.	.	.	.	0.792663	0.34407	D	0.805	0.20218	L	0.74	0.50459	T	-1.73	0.41046	N	0.364	0.43417	-0.9053	0.47412	T	0.078	0.31224	T	9	0.18720284	0.34220	T	0.017408	0.39097	T	0.131	0.35738	0.153	0.05648	0.253726318573	0.24972	0.2944981164392192	0.29362	.	.	0.647900462151	0.59688	T	.	.	.	-0.0735459	0.40760	T	-0.34342	0.39956	T	0.43500018119812	0.30245	T	0.664234	0.27311	T	.	.	.	.	.	.	.	.	-1.802	0.02515	T	.	.	0.316	0.54175	B	.;.	.;.	2.918567	0.38741	20.8	0.96956722856351774	0.31759	0.89858	0.50600	D	AEFDBCI	0.544243	0.55925	D	-0.0454591386243692	0.39806	2.353404	0.101476710604732	0.44624	2.740566	0.999999956867643	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.61531	0.40942	0	0.651492	0.60203	0	.	.	5.12	5.12	0.69459	4.066000	0.57236	7.707000	0.66598	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:0.0:1.0	14.606	0.68075	544	0.72685	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1169.53	125	chr2	38959849	.	T	C	1169.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.422;DP=309;ExcessHet=0;FS=2.306;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=0.193;SOR=0.512	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,103,1292	6	0	1	0
chr2	38986117	38986117	G	A	exonic	SOS1	.	nonsynonymous SNV	SOS1:NM_001382395:exon22:c.C3664T:p.P1222S,SOS1:NM_001382394:exon23:c.C3688T:p.P1230S,SOS1:NM_005633:exon23:c.C3709T:p.P1237S	Noonan syndrome 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1326360	RASopathy|Fibromatosis,_gingival,_1|Noonan_syndrome_4|SOS1-related_disorder|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300,Orphanet:2024|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733,Orphanet:648|.|MedGen:C3661900|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.439	0.0859586445049	.	.	2.473e-05	0	0	0	0	2.998e-05	0	6.057e-05	1.94e-05	3	154602	rs371408734	1.026e-05	1.026e-05	9.53e-06	1.1e-05	3.478e-05	6.16e-06	4.89e-06	9.24e-06	4.56e-06	0	0	0	2.519e-05	0	0	9.893e-06	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.077	0.42436	T	1.0	0.90584	D	0.992	0.80445	D	0.000001	0.84330	D	0.055972	1	0.81001	D	2.215	0.62545	M	-1.04	0.80214	T	-2.83	0.65056	D	0.276	0.42737	0.228	0.86387	D	0.638	0.87329	D	10	0.33585104	0.50735	T	0.085959	0.74639	D	0.439	0.74306	0.398	0.42590	0.672196569589	0.66942	0.30886635935409773	0.30799	0.497842640141	0.48274	0.703750610352	0.67688	T	0.715628	0.91922	D	0.0159148	0.53829	T	-0.033388	0.68144	D	0.574524521827698	0.35408	D	0.933507	0.75104	D	0.39632857	0.60477	0.5935147	0.76407	0.39632857	0.60478	0.5935147	0.76408	-5.216	0.39104	T	0.19121633079870773	0.25080	0.142	0.31906	B	.;.;.	.;.;.	4.678738	0.74854	26.2	0.99806716855781197	0.89085	0.99742	0.99125	D	AEFGBI	0.874732	0.79776	D	0.841923434470571	0.88641	9.656231	0.852901915543806	0.93184	11.87792	0.99999999997398	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	8.812000	0.91581	10.039000	0.83181	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.059	0.97662	459	0.78817	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	973.53	36	chr2	38986117	.	G	A	973.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.78;DP=288;ExcessHet=0;FS=2.65;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=-1.661;SOR=0.99	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1488	6	0	1	0
chr2	42329795	42329795	A	G	exonic	EML4	.	nonsynonymous SNV	EML4:NM_001145076:exon22:c.A2360G:p.N787S,EML4:NM_019063:exon23:c.A2534G:p.N845S	.	429	1091	2	0	0	2	0.000915751	.	.	.	2424926	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.0179578907094	7.7e-05	.	7.414e-05	0	8.646e-05	0.0001	0	7.492e-05	0.0011	6.057e-05	7.12e-05	11	154602	rs370089045	8.414e-05	8.414e-05	8.031e-05	8.8e-05	0.0002	7.203e-05	6.75e-05	6.959e-05	6.454e-05	8.961e-05	0.0001	0	7.557e-05	3.744e-05	0.0002	8.363e-05	0.0001	9.275e-05	0.0001	0.0001	0.0002	0.0001	0.0003	9.739e-05	8.254e-05	0.0002	0.0001	0.0003	0	0.0001	0	0	0	0.0034	8.823e-05	0	0.0002	0.101	0.30656	T	0.071	0.43721	T	0.001	0.09854	B	0.006	0.12133	B	0.009550	0.30309	N	0.404849	0.571082	0.32294	D	0.975	0.24501	L	0.31	0.58613	T	-0.93	0.25770	N	0.123	0.22614	-0.6318	0.63494	T	0.252	0.62178	T	10	0.09848896	0.17810	T	0.017958	0.39858	T	0.071	0.20720	.	.	0.451977122513	0.44822	0.19527430151729533	0.19444	0.0412068201696	0.04422	0.427335530519	0.28845	T	0.029903	0.21320	T	-0.394722	0.02507	T	-0.549721	0.17352	T	0.0150480032257868	0.00325	T	0.864214	0.56114	D	0.03907242	0.05327	0.055696454	0.09818	0.03907242	0.05327	0.055696454	0.09818	-5.979	0.46993	T	.	.	0.057	0.02285	B	.;.;.	.;.;.	2.137682	0.27216	17.39	0.99189539560208984	0.54935	0.64894	0.32556	D	AEFBCI	0.170757	0.29769	N	-0.362437283052168	0.26818	1.466569	-0.272115663932051	0.29021	1.622633	0.998792607735065	0.37689	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.75	3.38	0.37806	2.189000	0.42253	3.664000	0.39416	0.756000	0.94297	0.840000	0.30285	1.000000	0.68203	0.996000	0.76049	0.7878:0.0:0.2122:0.0	9.334	0.37202	923	0.18507	WD40-repeat-containing domain;.;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1121.44	101	chr2	42329795	.	A	G	1121.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.45;DP=292;ExcessHet=0;FS=2.632;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-0.615;SOR=0.998	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr2	43804717	43804717	A	G	exonic	DYNC2LI1	.	nonsynonymous SNV	DYNC2LI1:NM_001193464:exon11:c.A881G:p.Y294C,DYNC2LI1:NM_001348912:exon11:c.A878G:p.Y293C,DYNC2LI1:NM_001348913:exon11:c.A881G:p.Y294C,DYNC2LI1:NM_016008:exon11:c.A878G:p.Y293C	Short-rib throacic dysplasia 15 with polydactyly, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0104158424444	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs144458075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.36509	T	0.129	0.34837	T	0.094	0.28027	B	0.048	0.30945	B	0.000343	0.45440	D	0.190930	0.830181	0.34906	D	1.455	0.36767	L	2.18	0.18875	T	-4.47	0.77881	D	0.487	0.58883	-0.9907	0.32424	T	0.085	0.33213	T	10	0.1956462	0.35424	T	0.010416	0.26937	T	0.150	0.39571	.	.	0.162503812791	0.15892	0.6967761292227603	0.69618	0.0488043067536	0.05334	0.607020676136	0.53895	T	0.394453	0.75359	T	-0.109719	0.34814	T	-0.39538	0.33923	T	0.779158174991608	0.44998	D	0.889211	0.62120	D	0.24230084	0.47155	0.19113244	0.42555	0.24230084	0.47155	0.19113244	0.42555	-8.892	0.66999	D	0.4212105884424297	0.50997	0.093	0.31381	B	.;.	.;.	3.432154	0.47710	22.5	0.97068935255574718	0.32230	0.76889	0.37748	D	AEFBI	0.327961	0.42877	N	-0.225223045561497	0.32102	1.806843	-0.109690524488204	0.34999	2.019652	0.263522846396677	0.18816	0.706298	0.61202	0	0.659464	0.62310	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	4.48	3.34	0.37357	1.582000	0.36177	9.146000	0.78930	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.5929:0.0:0.0967:0.3104	4.216	0.09989	615	0.66512	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr2	43804717	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	6	1	0	0
chr2	43809753	43809753	G	C	exonic	DYNC2LI1	.	nonsynonymous SNV	DYNC2LI1:NM_001193464:exon13:c.G1045C:p.E349Q,DYNC2LI1:NM_016008:exon13:c.G1042C:p.E348Q	Short-rib throacic dysplasia 15 with polydactyly, Autosomal recessive	456	1060	5	1	0	7	0.00329102	.	.	.	697571	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.030	0.00649819671602	0.0023	0.000798722	0.0018	0.0001	0.0007	0	0	0.0031	0	0.0002	0.0015912	246	154602	rs41281457	0.0015	0.0015	0.0014	0.0015	0.0014	0.0014	0.0014	0.0010	0.0010	0.0002	0.0008	0.0267	0	0.0001	0.0014	0.0011	0.0034	0.0001	0.0016	0.0016	0.0017	0.0015	0.0015	0.0014	0.0014	0.0013	0.0012	0.0004	0	0.0007	0.0302	0	9.423e-05	0	0.0015	0.0024	0	0.26	0.16574	T	0.246	0.24054	T	0.018	0.20002	B	0.015	0.22546	B	0.022667	0.26589	N	0.410732	0.927695	0.27138	N	1.905	0.50856	L	2.15	0.19311	T	-0.54	0.16598	N	0.109	0.12627	-1.0612	0.11459	T	0.091	0.34847	T	10	0.0021591187	0.00031	T	0.006498	0.17129	T	0.030	0.07022	.	.	0.110078149338	0.10416	0.28648085428226705	0.28561	0.0395115337248	0.04217	0.421312689781	0.28017	T	0.031434	0.22039	T	-0.521083	0.00434	T	-0.54029	0.18268	T	0.0162886221873582	0.00400	T	0.694731	0.30434	T	0.08197862	0.18862	0.05434256	0.09330	0.107283	0.25367	0.06866476	0.14367	-3.548	0.17467	T	.	.	0.118	0.25462	B	.;.	.;.	2.059045	0.26183	17.03	0.99351661716438056	0.60615	0.86873	0.46251	D	AEFBI	0.295283	0.40544	N	-0.102872209322652	0.37268	2.165758	0.101427095412114	0.44621	2.740366	0.999967266713653	0.48965	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.11	5.11	0.69188	3.939000	0.56302	5.087000	0.47319	-0.116000	0.14526	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.0:1.0:0.0	15.567	0.76044	637	0.64373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002520	0.000000	0.004076	0.000000	0.000000	0.000000	0.006098	0.000000	0.08333	227.27	34	chr2	43809753	.	G	C	227.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.041;DP=178;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.68;ReadPosRankSum=1.31;SOR=0.573	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,995	5	0	1	1
chr2	43901339	43901339	C	A	exonic	LRPPRC	.	nonsynonymous SNV	LRPPRC:NM_133259:exon32:c.G3550T:p.A1184S	Leigh syndrome, French-Canadian type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.0197831097091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.015	0.61642	D	0.991	0.64070	D	0.793	0.57829	P	0.000013	0.62929	D	0.113850	0.995161	0.42571	D	2.93	0.84523	M	2.59	0.13317	T	-1.48	0.36189	N	0.339	0.38027	-1.1407	0.01332	T	0.091	0.34928	T	10	0.3189087	0.49284	T	0.019783	0.42228	T	0.180	0.45073	0.473	0.54859	0.637886457206	0.63490	0.4894458103321483	0.48864	0.149322655624	0.16836	0.42533493042	0.28571	T	0.275361	0.64790	T	-0.0894283	0.38173	T	-0.366234	0.37329	T	0.940356194972992	0.61262	D	0.829117	0.49388	T	0.09738369	0.22955	0.13140744	0.31554	0.09738369	0.22955	0.13140744	0.31553	-5.904	0.45470	T	0.2542619050894805	0.34388	0.193	0.41310	B	.	.	4.616921	0.73272	26.0	0.99544401216670042	0.70711	0.96761	0.70797	D	AEFGBI	0.332046	0.43158	N	0.713294975568361	0.80504	7.308781	0.721163659088214	0.83988	8.167854	0.99999680545719	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	3.453000	0.52743	7.728000	0.67649	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.985000	0.61073	0.0:0.9305:0.0:0.0695	13.791	0.62629	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	38	chr2	43901339	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1111	6	1	0	0
chr2	44359509	44359509	G	T	exonic	PREPL	.	nonsynonymous SNV	PREPL:NM_001042385:exon1:c.C207A:p.S69R,PREPL:NM_001042386:exon1:c.C207A:p.S69R,PREPL:NM_006036:exon1:c.C207A:p.S69R,PREPL:NM_001171603:exon2:c.C207A:p.S69R,PREPL:NM_001171606:exon2:c.C207A:p.S69R,PREPL:NM_001374275:exon2:c.C207A:p.S69R,PREPL:NM_001374276:exon2:c.C207A:p.S69R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00168836169403	.	.	8.258e-06	0	0	0	0	0	0	6.073e-05	6.5e-06	1	154602	rs749467366	2.061e-06	2.052e-06	2.735e-06	1.38e-06	2.322e-05	5.5e-07	1.5e-07	3.86e-06	1.44e-06	0	0	0	0	0	0	9.033e-07	0	2.322e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.22660	T	0.615	0.56192	T	0.001	0.31978	B	0.001	0.32951	B	0.042856	0.23799	N	0.443923	1	0.81001	D	0.205	0.09354	N	.	.	.	-0.03	0.08971	N	0.31	0.44857	-1.0603	0.11681	T	0.071	0.28806	T	9	0.17533228	0.32460	T	0.001688	0.02805	T	0.047	0.12962	0.518	0.61915	0.27479166964	0.27093	0.37172189131497485	0.37086	0.00478119465073	0.00421	0.440153241158	0.30597	T	0.011515	0.10265	T	-0.239607	0.15399	T	-0.400427	0.33334	T	0.249649778008461	0.22857	T	0.691931	0.48580	T	0.101927005	0.24080	0.12570025	0.30284	0.101927005	0.24079	0.12570025	0.30284	-4.71	0.34050	T	0.354414274291193	0.45137	0.120	0.50736	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.255769	0.44502	21.9	0.97626909869642053	0.35000	0.55679	0.29925	D	AEFBI	0.178242	0.30550	N	-0.261917125878348	0.30631	1.709719	-0.0366196567024577	0.38075	2.238111	0.999986495291225	0.51787	0.653281	0.48532	0	0.627608	0.54475	0	0.658983	0.55881	0	0.669	0.65921	0	.	.	5.27	4.33	0.51083	1.853000	0.38998	7.979000	0.76067	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.7885:0.2115	10.201	0.42261	812	0.42537	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	577.63	26	chr2	44359509	.	G	T	577.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.497;DP=188;ExcessHet=0;FS=2.635;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=22.22;ReadPosRankSum=-0.293;SOR=0.201	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1072	6	0	1	0
chr2	45418498	45418498	C	G	exonic	SRBD1	.	nonsynonymous SNV	SRBD1:NM_018079:exon18:c.G2200C:p.E734Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.0209011780679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.41364	D	0.029	0.54541	D	1.0	0.90584	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	1.77	0.45869	L	1.85	0.24472	T	-2.24	0.50175	N	0.734	0.73465	-0.8668	0.50768	T	0.163	0.49980	T	10	0.6664457	0.70455	D	0.020901	0.43581	T	0.207	0.49555	0.341	0.33302	0.702089145349	0.69950	0.7332840229311961	0.73273	0.0989348035754	0.11181	0.668543934822	0.62630	T	0.00953	0.08670	T	-0.043472	0.45433	T	-0.300221	0.44701	T	0.965844631195068	0.67394	D	0.960404	0.85096	D	0.35363194	0.57348	0.27265579	0.53178	0.35363194	0.57348	0.27265579	0.53177	-11.97	0.84705	D	.	.	0.167	0.36712	B	.	.	4.775311	0.77344	26.7	0.99823313023740845	0.90590	0.98099	0.79589	D	AEFBI	0.898594	0.84205	D	0.696308983004008	0.79391	7.067645	0.69525990852002	0.82019	7.664379	0.999999953127231	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.96	5.09	0.68647	7.458000	0.79818	7.581000	0.60964	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9333:0.0:0.0667	15.439	0.74894	927	0.17636	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	31	chr2	45418498	.	C	G	33.22	.	AC=2;AF=0.143;AN=14;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1230	6	1	0	0
chr2	45418513	45418513	C	T	exonic	SRBD1	.	nonsynonymous SNV	SRBD1:NM_018079:exon18:c.G2185A:p.A729T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.566	0.195080443512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.01	0.65728	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.965	0.96539	H	0.08	0.61559	T	-3.43	0.67359	D	0.931	0.93605	0.562	0.91399	D	0.643	0.87520	D	10	0.92438936	0.91789	D	0.19508	0.86400	D	0.566	0.82289	0.744	0.87570	0.898079822721	0.89706	0.9109029769203246	0.91064	0.0989676874833	0.11181	0.761781454086	0.76195	T	0.454079	0.79377	T	0.350467	0.86535	D	0.265645	0.86358	D	0.998533368110657	0.94420	D	0.951905	0.81545	D	0.5530885	0.70127	0.541809	0.73518	0.5530885	0.70128	0.541809	0.73519	-11.625	0.82977	D	.	.	0.668	0.71668	P	.	.	4.992935	0.82791	27.9	0.99930130682373208	0.99334	0.97901	0.77985	D	AEFBI	0.852155	0.76905	D	1.11096722324913	0.98332	17.99381	1.02545686623774	0.99061	20.49055	0.999999999999855	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.96	5.96	0.96695	7.458000	0.79818	7.581000	0.60964	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	20.475	0.99177	927	0.17636	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	662.63	29	chr2	45418513	.	C	T	662.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.34;DP=229;ExcessHet=0;FS=6.124;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-0.596;SOR=1.66	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1230	6	0	1	0
chr2	47176510	47176510	C	G	exonic	CALM2	.	nonsynonymous SNV	CALM2:NM_001305624:exon1:c.G32C:p.S11T	Long QT syndrome 15, Autosomal dominant	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	.	.	.	1.318e-05	0	0	0	0	2.439e-05	0	0	1.29e-05	2	154602	rs777643730	2.065e-06	2.736e-06	0	4.156e-06	1.805e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.805e-06	1.665e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.86	0.74477	T	0.06	0.06253	N	.	.	0.087	0.83941	D	0.508	0.81507	D	6	0.31939664	0.49327	T	.	.	.	0.182	0.45420	0.488	0.57257	0.246926113748	0.24311	.	.	.	.	.	.	.	0.005767	0.05219	T	-0.0624472	0.42524	T	-0.302297	0.44482	T	0.608293235301971	0.36732	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.602599	0.33784	19.44	0.91102040483527758	0.20355	0.96381	0.68860	D	ALL	0.035875	0.04689	N	0.261797898710474	0.54225	3.588622	0.319115386744345	0.56665	3.83006	1.0	0.98316	0.468429	0.09910	2	0.093493	0.02558	3	0.504199	0.09095	0	0.241949	0.04745	2	.	.	5.5	4.62	0.56946	2.364000	0.43840	4.647000	0.44180	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.1544:0.8456:0.0:0.0	13.812	0.62758	845	0.36510	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	252.63	37	chr2	47176510	.	C	G	252.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.53;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=-0.49;SOR=0.836	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1188	6	0	1	0
chr2	47379013	47379013	G	T	exonic	EPCAM	.	nonsynonymous SNV	EPCAM:NM_002354:exon6:c.G616T:p.D206Y	Colorectal cancer, hereditary nonpolyposis, type 8;Diarrhea 5, with tufting enteropathy, congenital, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.445	0.0433981876988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.032	0.53426	D	0.802	0.45105	P	0.184	0.35999	B	0.006130	0.32251	N	0.358439	0.99833	0.44783	D	3.02	0.86243	M	-0.8	0.73845	T	-5.19	0.83625	D	0.819	0.81459	-0.3322	0.74070	T	0.305	0.67603	T	10	0.6419456	0.69107	D	0.043398	0.60961	D	0.445	0.74727	0.381	0.39807	0.610564787575	0.60743	0.5517437393365716	0.55100	0.0173401119344	0.01682	0.593596994877	0.52001	T	0.268884	0.94181	T	0.29488	0.82555	D	0.185798	0.82330	D	0.988878726959229	0.79155	D	0.941706	0.78221	D	0.6776214	0.76841	0.51874346	0.72194	0.6776214	0.76842	0.51874346	0.72194	-9.026	0.67865	D	0.4685922803224569	0.54947	0.461	0.62757	A	.;.	.;.	4.484930	0.70005	25.5	0.98991002418856	0.49943	0.97521	0.75291	D	AEFBI	0.626990	0.60961	D	0.358177753193215	0.59173	4.094523	0.420537512626681	0.62847	4.50711	0.963603125577038	0.28702	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.86	4.98	0.65679	4.336000	0.59087	9.785000	0.81617	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0752:0.0:0.9248:0.0	12.715	0.56477	875	0.30485	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	799.45	33	chr2	47379013	.	G	T	799.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.222;DP=257;ExcessHet=0;FS=0.852;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.624;SOR=0.563	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1025	6	0	1	0
chr2	47800616	47800616	T	C	exonic	MSH6	.	nonsynonymous SNV	MSH6:NM_001281492:exon2:c.T2243C:p.V748A,MSH6:NM_001281493:exon3:c.T1727C:p.V576A,MSH6:NM_000179:exon4:c.T2633C:p.V878A,MSH6:NM_001281494:exon4:c.T1727C:p.V576A	Colorectal cancer, hereditary nonpolyposis, type 5, Autosomal dominant;Endometrial cancer, familial;Mismatch repair cancer syndrome, Autosomal recessive	0	1484	37	1	0	39	0.0129697	.	.	YES	23970	Hereditary_cancer-predisposing_syndrome|Colorectal_/_endometrial_cancer|Breast_and/or_ovarian_cancer|Lynch_syndrome|not_specified|Mismatch_repair_cancer_syndrome_3|Endometrial_carcinoma|Lynch_syndrome_5|not_provided|Hereditary_nonpolyposis_colorectal_neoplasms|Carcinoma_of_colon|Malignant_tumor_of_breast	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN221548|MedGen:CN221562|MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144|MedGen:CN169374|MONDO:MONDO:0030841,MedGen:C5436807,OMIM:619097|Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350,Orphanet:144|MedGen:C3661900|MeSH:D003123,MedGen:C0009405|MONDO:MONDO:0002032,MedGen:C0699790|MONDO:MONDO:0007254,MedGen:C0006142	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.155	.	0.0055	0.00399361	0.0053	0.0011	0.0019	0.0001	0.0003	0.0074	0.0055	0.0064	0.0053039	820	154602	rs2020912	0.0059	0.0059	0.0057	0.0061	0.0170	0.0058	0.0057	0.0143	0.0133	0.0008	0.0034	0.0100	5.038e-05	0.0007	0.0170	0.0064	0.0052	0.0065	0.0046	0.0046	0.0046	0.0047	0.0073	0.0043	0.0042	0.0066	0.0064	0.0008	0.0022	0.0073	0.0069	0	0.0007	0	0.0071	0.0066	0.0052	0.338	0.14645	T	0.478	0.18178	T	0.036	0.20732	B	0.026	0.20792	B	0.003501	0.34847	N	0.308092	2.5814e-05	0.20667	A	1.105	0.28596	L	-2.7	0.90509	D	-1.19	0.30346	N	0.172	0.18920	-0.3685	0.73007	T	0.421	0.76616	T	9	0.035881698	0.01858	T	.	.	.	0.155	0.40530	.	.	0.853631389444	0.85222	0.4509105311589898	0.45009	.	.	0.397578775883	0.24733	T	0.410047	0.76490	T	-0.334646	0.05767	T	-0.249047	0.49909	T	0.00170501993543491	0.00017	T	0.751525	0.37371	T	0.26617947	0.49687	0.09885118	0.23582	0.28716815	0.51729	0.11148119	0.26890	-3.425	0.15395	T	0.0878413940063621	0.05203	0.067	0.05060	B	.;.;.;.;.	.;.;.;.;.	0.764925	0.11347	7.965	0.7259771545986986	0.10029	0.52323	0.29104	D	AEFBCI	0.104344	0.20880	N	-0.873356904237767	0.11479	0.5541805	-0.862848901577208	0.12979	0.6707646	0.993847780497258	0.33379	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.6	1.99	0.25423	0.373000	0.20215	1.239000	0.25094	0.609000	0.47794	0.000000	0.06391	0.929000	0.28499	0.606000	0.31539	0.0:0.2974:0.0:0.7026	8.107	0.30053	905	0.23532	.;.;DNA mismatch repair protein MutS, core|DNA mismatch repair protein MutS, core;DNA mismatch repair protein MutS, core|DNA mismatch repair protein MutS, core;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.012085	0.000000	0.012228	0.014620	0.000000	0.034483	0.015244	0.015152	0.07143	1794.46	43	chr2	47800616	.	T	C	1794.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.4;DP=312;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=-2.634;SOR=0.668	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1234	6	0	1	0
chr2	48581061	48581061	C	T	exonic	STON1;STON1-GTF2A1L	.	nonsynonymous SNV	STON1-GTF2A1L:NM_001198594:exon1:c.C428T:p.T143I,STON1-GTF2A1L:NM_001198593:exon2:c.C428T:p.T143I,STON1:NM_006873:exon2:c.C428T:p.T143I,STON1-GTF2A1L:NM_172311:exon2:c.C428T:p.T143I,STON1:NM_001198595:exon3:c.C428T:p.T143I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00763137673473	.	.	1.764e-05	9.752e-05	0	0	0	1.544e-05	0	0	1.94e-05	3	154602	rs746337577	2.426e-05	2.463e-05	2.341e-05	2.512e-05	0.0002	1.761e-05	1.559e-05	2.096e-05	1.794e-05	0	0	0	0	0	0.0002	2.897e-05	3.355e-05	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.411e-05	2.18e-06	8.2e-07	.	.	2.411e-05	0	0	0	0	0	0	1.47e-05	0	0	0.045	0.41637	D	0.217	0.26145	T	0.001	0.07471	B	0.002	0.06944	B	0.850254	0.08967	N	0.936201	1	0.08975	N	1.555	0.39373	L	2.93	0.09822	T	-0.33	0.15782	N	0.049	0.03613	-0.9556	0.39988	T	0.016	0.06521	T	10	0.058199167	0.06806	T	0.007631	0.20246	T	0.055	0.15663	0.2	0.11384	0.107399877778	0.10242	0.1679726610813738	0.18001	0.00343841262396	0.00292	0.245196819305	0.03278	T	0.010045	0.09105	T	-0.493845	0.00619	T	-0.765004	0.02936	T	0.0220220461816608	0.00912	T	0.494351	0.15306	T	0.022747317	0.00960	0.023890743	0.00402	0.022747317	0.00960	0.023890743	0.00402	-3.328	0.14100	T	0.15654296640258045	0.18841	0.075	0.11654	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.304838	0.06801	3.325	0.86365040904527901	0.16487	0.11897	0.16931	N	AEFDBI	0.069431	0.13743	N	-0.940545815275468	0.09907	0.4709764	-0.945959148556985	0.11017	0.5586724	0.00538924485239635	0.10922	0.732398	0.92422	0	0.610034	0.51514	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.24	0.992	0.18937	0.658000	0.24662	0.568000	0.19578	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.2482:0.4439:0.0:0.3079	3.626	0.07654	527	0.73864	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000518	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	3489.44	101	chr2	48581061	.	C	T	3489.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.89;DP=717;ExcessHet=0;FS=2.012;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.746;SOR=0.568	GT:AD:DP:GQ:PL	0/0:166,0:166:99:0,120,1800	6	0	1	0
chr2	53801426	53801426	G	A	exonic	ERLEC1	.	nonsynonymous SNV	ERLEC1:NM_001127397:exon7:c.G555A:p.M185I,ERLEC1:NM_001127398:exon7:c.G555A:p.M185I,ERLEC1:NM_015701:exon7:c.G555A:p.M185I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0211643238478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.36113	T	0.189	0.28764	T	0.746	0.43152	P	0.173	0.37734	B	0.000000	0.84330	D	0.041969	1	0.81001	D	2.3	0.65703	M	2.97	0.09450	T	-1.09	0.28906	N	0.433	0.47208	-1.1127	0.02848	T	0.030	0.12848	T	9	0.27669924	0.45234	T	0.021164	0.43897	T	0.189	0.46613	0.526	0.63115	0.219573609325	0.21563	0.30734548630797	0.30647	0.302246625128	0.32551	0.778889298439	0.78760	T	0.023659	0.18020	T	-0.0866875	0.38620	T	-0.362297	0.37785	T	0.971960604190826	0.69517	D	0.938006	0.76748	D	0.25663605	0.48704	0.26775464	0.52636	0.25663605	0.48704	0.26775464	0.52635	-6.106	0.58304	T	.	.	0.381	0.58470	A	.;.;.	.;.;.	3.496799	0.48908	22.7	0.99411076655605624	0.63263	0.99123	0.91564	D	AEFBI	0.926520	0.90776	D	0.388603612867998	0.60803	4.27349	0.536133127929176	0.70441	5.505356	0.999999999990121	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.96	5.96	0.96695	8.039000	0.89191	11.929000	0.99898	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.422	0.99051	911	0.21964	.;Protein OS9-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1136.53	34	chr2	53801426	.	G	A	1136.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.357;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.36;ReadPosRankSum=-1.346;SOR=0.664	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1070	6	0	1	0
chr2	54892634	54892634	T	A	exonic	EML6	.	nonsynonymous SNV	EML6:NM_001039753:exon18:c.T2720A:p.F907Y	.	435	1079	8	0	0	8	0.00369344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0167439593543	0.0020	0.000599042	0.0022	0.0004	0.0024	0	0	0.0016	0	0.0041	0.000608	94	154602	rs200933456	0.0020	0.0019	0.0019	0.0021	0.0037	0.0019	0.0019	0.0033	0.0032	0.0004	0.0006	0.0016	0	0	0.0032	0.0021	0.0016	0.0037	0.0012	0.0012	0.0011	0.0012	0.0035	0.0010	0.0010	0.0022	0.0018	0.0002	0	0.0010	0.0020	0	0	0.0034	0.0019	0.0014	0.0035	0.002	0.72154	D	0.043	0.49942	D	0.996	0.68779	D	0.941	0.67658	D	0.000079	0.52346	U	0.000000	0.999862	0.50061	D	2.33	0.66821	M	5.09	0.01238	T	-2.5	0.54382	D	0.676	0.68342	-1.0633	0.10950	T	0.017	0.06902	T	10	0.018154949	0.00393	T	0.016744	0.38138	T	0.252	0.56159	.	.	0.42069145522	0.41685	0.49512352521516345	0.49433	0.724235548467	0.62377	0.85028475523	0.89658	D	0.047503	0.27741	T	-0.333155	0.05876	T	-0.25185	0.49635	T	0.0360129637344373	0.02983	T	0.884811	0.60904	D	0.5425161	0.69537	0.51953757	0.72241	0.5425161	0.69538	0.51953757	0.72241	-7.601	0.58318	D	.	.	0.641	0.70548	P	.	.	4.545920	0.71494	25.7	0.99670825334660029	0.78587	0.97893	0.77924	D	AEFBI	0.896423	0.83747	D	0.72273345412817	0.81122	7.449055	0.722484379339919	0.84087	8.195066	0.999989663811	0.51787	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.55	5.55	0.83298	7.585000	0.81876	7.784000	0.68736	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.696	0.77252	334	0.86273	WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002451	0.000000	0.000000	0.000000	0.000000	0.000000	0.011765	0.000000	0.07143	618.46	32	chr2	54892634	.	T	A	618.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.07;DP=218;ExcessHet=0;FS=1.298;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=-0.842;SOR=1.101	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1143	6	0	1	0
chr2	54916808	54916808	G	A	exonic	EML6	.	nonsynonymous SNV	EML6:NM_001039753:exon25:c.G3548A:p.C1183Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.0125066060056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.152e-06	2.052e-06	0	4.368e-06	2.791e-06	5.7e-07	1.6e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.791e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.996	0.68779	D	0.905	0.64260	P	.	.	.	.	1	0.81001	D	1.905	0.50856	L	1.37	0.34253	T	-6.44	0.91353	D	0.912	0.91391	-0.6722	0.61729	T	0.233	0.59965	T	9	0.8008499	0.79489	D	0.012507	0.31146	T	0.534	0.80426	0.571	0.69431	0.574808824563	0.57149	0.7641115852600686	0.76359	0.753685659022	0.63907	0.879516839981	0.93896	D	0.231045	0.59727	T	0.257612	0.79308	D	0.132265	0.79040	D	0.992529690265656	0.83025	D	0.938306	0.76795	D	0.82800514	0.85764	0.9098664	0.95679	0.82800514	0.85766	0.9098664	0.95679	-10.447	0.76542	D	.	.	0.859	0.80249	P	.	.	5.021973	0.83472	28.1	0.9981633117539559	0.89973	0.99133	0.91711	D	AEFBI	0.840764	0.75802	D	0.845272685856394	0.88838	9.731158	0.834262163412849	0.92065	11.217	0.99999999999799	0.74766	0.549168	0.22868	0	0.55458	0.17659	0	0.618467	0.43123	0	0.616125	0.45549	0	.	.	5.68	5.68	0.88021	8.148000	0.89561	11.785000	0.96215	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	20.159	0.98130	467	0.78285	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1114.46	33	chr2	54916808	.	G	A	1114.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.215;DP=283;ExcessHet=0;FS=4.855;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=0.009;SOR=1.179	GT:AD:DP:GQ:PL	0/1:61,49:110:99:1125,0,1464	6	0	1	0
chr2	55025628	55025628	T	C	exonic	RTN4	.	nonsynonymous SNV	RTN4:NM_001321859:exon3:c.A1853G:p.K618R,RTN4:NM_001321860:exon3:c.A1853G:p.K618R,RTN4:NM_001321861:exon3:c.A1853G:p.K618R,RTN4:NM_001321862:exon3:c.A1853G:p.K618R,RTN4:NM_001321863:exon3:c.A1853G:p.K618R,RTN4:NM_020532:exon3:c.A2471G:p.K824R,RTN4:NM_207521:exon3:c.A1853G:p.K618R,RTN4:NM_001321904:exon4:c.A1853G:p.K618R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00389074888163	.	.	3.309e-05	0	0	0	0	6.009e-05	0	0	2.59e-05	4	154602	rs201310203	6.843e-06	6.84e-06	5.447e-06	8.254e-06	7.196e-06	3.46e-06	2.52e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	3.313e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.34800	T	0.318	0.22694	T	0.006	0.13644	B	0.003	0.08700	B	0.777077	0.09501	N	0.908693	0.999902	0.50806	D	0.905	0.23240	L	2.1	0.19990	T	-0.61	0.18042	N	0.044	0.01658	-1.0080	0.27541	T	0.046	0.19680	T	10	0.06616709	0.09034	T	0.003891	0.09148	T	0.023	0.04649	0.232	0.16005	0.263140351381	0.25927	0.05032212790685537	0.04975	0.0262991557053	0.02687	0.218892604113	0.01247	T	0.117772	0.43809	T	-0.372638	0.03462	T	-0.61668	0.11449	T	0.0208412274603847	0.00784	T	0.560444	0.19943	T	0.060711037	0.12491	0.062281866	0.12159	0.060711037	0.12490	0.062281866	0.12159	-4.807	0.34673	T	.	.	0.075	0.08609	B	.;.;.;.;.	.;.;.;.;.	1.157831	0.15464	11.87	0.98737335836103179	0.45452	0.51853	0.28993	D	AEGBCI	0.082789	0.16767	N	-0.54411905282384	0.20668	1.09125	-0.473335631001747	0.22891	1.245623	0.99993238225666	0.46732	0.660377	0.49826	0	0.518115	0.08659	0	0.696353	0.63694	0	0.322989	0.05693	1	.	.	5.45	1.78	0.23918	0.267000	0.18318	-0.138000	0.11547	0.665000	0.62972	0.692000	0.28550	0.029000	0.21193	0.984000	0.60418	0.0:0.1992:0.0:0.8008	9.252	0.36720	625	0.65529	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	643.63	75	chr2	55025628	.	T	C	643.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.024;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.58;ReadPosRankSum=-0.696;SOR=0.704	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1141	6	0	1	0
chr2	55656175	55656175	A	G	exonic	PNPT1	.	nonsynonymous SNV	PNPT1:NM_033109:exon17:c.T1397C:p.F466S	Combined oxidative phosphorylation deficiency 13, Autosomal recessive;Deafness, autosomal recessive 70, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.794	0.127680224603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.014	0.62352	D	0.987	0.61912	D	0.94	0.67560	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.83	0.82355	M	0.01	0.62459	T	-5.63	0.86836	D	0.941	0.94786	0.108	0.84325	D	0.472	0.79716	T	10	0.8998928	0.89349	D	0.12768	0.80952	D	0.794	0.93227	0.723	0.85761	0.752526195303	0.75028	0.952733168883312	0.95257	0.553234154126	0.52099	0.783098578453	0.79396	T	0.62507	0.88305	D	0.351137	0.86583	D	0.266607	0.86407	D	0.998156368732452	0.93375	D	.	.	.	0.8436392	0.86869	0.8126017	0.89066	0.8436392	0.86871	0.8126017	0.89067	-12.125	0.85455	D	0.2286129973749547	0.30918	0.86	0.80310	P	.	.	4.467672	0.69589	25.4	0.98145422991799669	0.38638	0.98850	0.87681	D	AEFBI	0.899443	0.84383	D	0.820273640412999	0.87356	9.189935	0.755306121623349	0.86551	8.926163	0.993991063815216	0.33443	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.82	4.82	0.61641	8.942000	0.92506	11.241000	0.90426	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.659	0.68461	423	0.81269	Exoribonuclease, phosphorolytic domain 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	74.22	33	chr2	55656175	.	A	G	74.22	.	AC=2;AF=0.143;AN=14;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=29.89;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1087:.	6	1	0	0
chr2	61349269	61349269	T	G	exonic	USP34	.	nonsynonymous SNV	USP34:NM_014709:exon13:c.A1524C:p.R508S	.	440	1079	3	0	0	3	0.00138825	.	.	.	719928	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.208	.	0.0079	0.00319489	0.0069	0.0023	0.0009	0.0006	0.0033	0.0100	0.0033	0.0066	0.0073285	1133	154602	rs62623573	0.0099	0.0099	0.0099	0.0098	0.0117	0.0097	0.0097	0.0115	0.0115	0.0016	0.0017	0.0009	0	0.0033	0.0019	0.0117	0.0070	0.0073	0.0066	0.0066	0.0070	0.0061	0.0104	0.0062	0.0061	0.0098	0.0095	0.0019	0.0658	0.0042	0.0014	0	0.0028	0	0.0104	0.0052	0.0093	0.106	0.29688	T	0.781	0.04316	T	0.967	0.56408	D	0.879	0.62418	P	0.000790	0.41772	D	0.299146	0.910418	0.36396	D	0	0.06538	N	3.99	0.03268	T	-0.81	0.22294	N	0.705	0.70878	-0.7702	0.56847	T	0.008	0.02679	T	10	0.0077167153	0.00175	T	.	.	.	0.208	0.49714	0.154	0.05752	0.272557281605	0.26857	0.430210628247537	0.42938	.	.	0.627248764038	0.56755	T	0.020572	0.16172	T	-0.456911	0.01027	T	-0.418066	0.31298	T	0.0269503199045537	0.01537	T	0.850615	0.53448	D	0.11781335	0.27768	0.08836432	0.20598	0.11781335	0.27768	0.08836432	0.20597	-2.813	0.08304	T	.	.	0.344	0.56178	A	.	.	3.270103	0.44761	22.0	0.99037284146221538	0.50939	0.90887	0.52449	D	AEFDBI	0.253919	0.37333	N	0.0285571167857024	0.43156	2.614189	0.117331816805362	0.45434	2.80674	0.595171275827209	0.21679	0.732398	0.92422	0	0.653731	0.59785	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.65	4.49	0.54177	1.012000	0.29527	1.565000	0.27381	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0731:0.0:0.9269	10.596	0.44531	190	0.92594	.	.	.	.	.	rs62623573	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.005051	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.08333	403.27	36	chr2	61349269	.	T	G	403.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.073;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=-0.048;SOR=0.683	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1039	5	0	1	1
chr2	61873030	61873030	T	C	exonic	CCT4	.	nonsynonymous SNV	CCT4:NM_001256721:exon9:c.A1007G:p.N336S,CCT4:NM_006430:exon10:c.A1097G:p.N366S	.	426	1078	18	0	0	18	0.00827967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	0.0002	0.00259585	0.0021	9.619e-05	0.0005	0.0002	0.0002	0.0002	0.0022	0.0139	0.0018305	283	154602	rs150227141	0.0009	0.0009	0.0005	0.0014	0.0133	0.0009	0.0009	0.0126	0.0124	8.983e-05	0.0002	0	0.0009	1.872e-05	0.0031	0.0001	0.0009	0.0133	0.0006	0.0006	0.0004	0.0008	0.0110	0.0005	0.0004	0.0086	0.0078	0.0002	0	0.0008	0	0.0004	0	0.0034	0.0001	0	0.0110	0.876	0.02568	T	0.448	0.13030	T	0.0	0.02946	B	0.002	0.06944	B	0.000235	0.47286	N	0.290329	0.986898	0.24571	N	-1.095	0.01012	N	-1.11	0.77466	T	0.54	0.02764	N	0.075	0.05799	-0.9582	0.39516	T	0.120	0.41821	T	10	0.0037590563	0.00070	T	.	.	.	0.242	0.54781	.	.	0.228066490088	0.22430	0.35421404533694456	0.35335	0.234397524989	0.25976	0.320901304483	0.13558	T	0.242458	0.61120	T	-0.574876	0.00207	T	-0.58687	0.13939	T	0.00279880017573635	0.00029	T	0.831017	0.49766	T	0.10445547	0.24694	0.05073367	0.08021	0.10445547	0.24694	0.05073367	0.08020	-2.844	0.08595	T	.	.	0.059	0.00793	B	.;.	.;.	2.233915	0.28519	17.82	0.7157968518545047	0.09677	0.22416	0.21739	N	AEDBCIJ	0.068338	0.13476	N	-1.29375309798235	0.03749	0.1680699	-1.07789728224533	0.08136	0.3987337	0.248501459070063	0.18654	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.86	-0.8	0.10347	0.105000	0.15169	-1.122000	0.06265	-0.118000	0.14412	0.966000	0.33990	0.002000	0.18203	0.996000	0.76049	0.0:0.4698:0.0:0.5302	12.964	0.57875	398	0.82839	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.007576	0.07143	53.44	33	chr2	61873030	.	T	C	53.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.15;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=0.319;SOR=0.446	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1102	6	0	1	0
chr2	64552133	64552133	A	G	exonic	AFTPH	.	nonsynonymous SNV	AFTPH:NM_001002243:exon2:c.A659G:p.N220S,AFTPH:NM_001375969:exon2:c.A659G:p.N220S,AFTPH:NM_001375970:exon2:c.A659G:p.N220S,AFTPH:NM_001375971:exon2:c.A659G:p.N220S,AFTPH:NM_001375972:exon2:c.A659G:p.N220S,AFTPH:NM_001375973:exon2:c.A659G:p.N220S,AFTPH:NM_017657:exon2:c.A659G:p.N220S,AFTPH:NM_203437:exon2:c.A659G:p.N220S	.	433	1088	1	0	0	1	0.000459348	.	.	.	2393610	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.060	0.00417972860493	.	.	8.284e-06	0	0	0	0	0	0	6.078e-05	6.5e-06	1	154602	rs781685888	2.394e-05	2.394e-05	1.361e-05	3.438e-05	0.0026	1.739e-05	1.539e-05	0.0016	0.0013	2.987e-05	0	0	0	0	0.0026	1.799e-06	4.967e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.08710	T	0.508	0.10893	T	0.005	0.12996	B	0.004	0.10090	B	0.419782	0.12886	N	0.745082	0.99931	0.21372	N	1.95	0.52479	M	1.88	0.23884	T	-0.75	0.21003	N	0.015	0.03283	-0.9745	0.36235	T	0.025	0.10866	T	10	0.04491043	0.03501	T	0.00418	0.10058	T	0.060	0.17295	.	.	0.311241185304	0.30733	0.03543934406028981	0.03490	0.0736240990023	0.08253	0.282308340073	0.07816	T	0.001158	0.00660	T	-0.479459	0.00745	T	-0.722886	0.04658	T	0.0259577319711268	0.01399	T	0.830117	0.49576	T	0.0294156	0.02432	0.018658053	0.00062	0.0294156	0.02431	0.018658053	0.00062	-2.398	0.05120	T	.	.	0.062	0.04396	B	.;.;.	.;.;.	0.682422	0.10509	7.223	0.5879814744387144	0.06075	0.56339	0.30092	D	AEBI	0.048108	0.08173	N	-0.594257779808397	0.19117	0.9980887	-0.383325997088739	0.25494	1.402333	0.93040819823986	0.27007	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.78	3.37	0.37692	0.431000	0.21163	1.801000	0.28882	0.691000	0.84096	0.991000	0.37257	0.682000	0.26126	0.993000	0.69303	0.6637:0.0:0.2055:0.1308	4.890	0.13080	788	0.46569	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1459.53	35	chr2	64552133	.	A	G	1459.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.298;DP=300;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-0.736;SOR=0.664	GT:AD:DP:GQ:PL	0/1:60,59:119:99:1470,0,1456	6	0	1	0
chr2	65069530	65069530	G	A	exonic	CEP68	.	nonsynonymous SNV	CEP68:NM_001319100:exon2:c.G86A:p.R29Q,CEP68:NM_001319101:exon2:c.G86A:p.R29Q,CEP68:NM_015147:exon2:c.G86A:p.R29Q	.	415	1106	1	0	0	1	0.000451875	.	.	.	3653014	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	0.00140963247224	.	0.000199681	7.087e-05	9.976e-05	0	0	0	9.366e-05	0.0012	0	5.82e-05	9	154602	rs537480433	4.918e-05	5.13e-05	4.261e-05	5.585e-05	5.72e-05	3.975e-05	3.65e-05	4.569e-05	4.152e-05	0	0	0	2.535e-05	1.896e-05	0	5.72e-05	6.727e-05	2.367e-05	3.939e-05	3.937e-05	0	8.057e-05	5.881e-05	1.714e-05	1.129e-05	1.972e-05	1.125e-05	4.811e-05	0	0	0	0	0	0	5.881e-05	0	0	1.0	0.00964	T	0.878	0.05863	T	0.002	0.09854	B	0.001	0.04355	B	0.861834	0.08889	N	0.926295	1	0.08975	N	-1.585	0.00443	N	2.03	0.20959	T	0.67	0.02263	N	0.044	0.03069	-0.9887	0.32928	T	0.013	0.05177	T	10	0.013709456	0.00290	T	0.00141	0.02088	T	0.019	0.03383	.	.	0.115124310173	0.11017	0.03749887111944987	0.03695	0.0487457149074	0.05327	0.201990574598	0.00517	T	1.56E-4	0.00022	T	-0.55014	0.00291	T	-0.827661	0.01304	T	0.0264595248226571	0.01469	T	0.523348	0.17107	T	0.057118203	0.11327	0.025497925	0.00596	0.057118203	0.11327	0.025497925	0.00596	-3.167	0.12082	T	.	.	0.066	0.02200	B	.;.	.;.	-1.155020	0.00578	0.014	0.66271975951276463	0.08010	0.03049	0.07945	N	AEFBCI	0.022774	0.01181	N	-1.75930660013753	0.00653	0.02814736	-1.78635265682331	0.00804	0.03587849	0.999992960342289	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	3.91	-5.7	0.02226	-1.046000	0.03635	-1.153000	0.06175	-1.766000	0.00670	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3358:0.1221:0.4218:0.1203	2.922	0.05420	905	0.23532	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	644.63	33	chr2	65069530	.	G	A	644.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.185;DP=218;ExcessHet=0;FS=2.512;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=0.259;SOR=1.22	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1228	6	0	1	0
chr2	70900710	70900710	G	A	exonic	VAX2	.	nonsynonymous SNV	VAX2:NM_012476:exon1:c.G89A:p.G30E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.983678529406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.524e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.331	0.13088	T	0.602	0.07894	T	0.028	0.19712	B	0.014	0.16862	B	0.024540	0.26246	N	0.413860	0.999997	0.08975	N	1.87	0.49600	L	-2.61	0.89953	D	0.36	0.03700	N	0.214	0.23884	-0.6059	0.64573	T	0.479	0.80083	T	10	0.23663265	0.40749	T	0.983679	0.99920	D	0.159	0.41286	0.249	0.18602	0.976648871268	0.97640	0.15834768573496824	0.15755	0.0512605439313	0.05640	0.853335678577	0.90117	D	0.060377	0.31371	T	-0.0203606	0.48803	T	-0.267023	0.48120	T	0.376617014408112	0.28052	T	0.422958	0.11265	T	0.06426304	0.13616	0.1525997	0.35895	0.06426304	0.13615	0.1525997	0.35894	-4.373	0.29188	T	.	.	0.093	0.13923	B	.	.	2.505033	0.32342	19.01	0.99465460177519183	0.66049	0.72738	0.35593	D	ALL	0.153536	0.27841	N	-0.361698171766658	0.26845	1.468238	-0.301473973656529	0.28051	1.56104	0.999999999571868	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.603991	0.37454	0	.	.	3.8	2.89	0.32713	2.969000	0.48924	3.506000	0.38809	0.450000	0.21304	0.562000	0.27441	0.999000	0.35428	0.372000	0.26156	0.1363:0.0:0.8637:0.0	6.573	0.21743	733	0.53988	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.34	16	chr2	70900710	.	G	A	33.34	.	AC=2;AF=0.143;AN=14;DP=93;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.67;SOR=0.693	GT:AD:DP:GQ:PL	0/0:20,0:20:54:0,54,810	6	1	0	0
chr2	70993734	70993734	T	C	exonic	TEX261	.	nonsynonymous SNV	TEX261:NM_144582:exon2:c.A112G:p.T38A	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	.	0.0007	0.0107827	0.0079	0.0002	0.0423	0.0302	0.0057	0.0019	0.0033	0.0021	0.0073673	1139	154602	rs151285112	0.0027	0.0027	0.0029	0.0025	0.0377	0.0026	0.0026	0.0362	0.0356	0.0003	0.0377	0.0053	0.0225	0.0057	0.0006	0.0004	0.0040	0.0017	0.0043	0.0043	0.0039	0.0048	0.0245	0.0040	0.0039	0.0220	0.0212	0.0005	0	0.0241	0.0063	0.0245	0.0043	0	0.0007	0.0090	0.0012	0.004	0.65419	D	0.009	0.72224	D	0.979	0.59044	D	0.973	0.72923	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.53	0.73802	M	.	.	.	-3.83	0.72120	D	0.785	0.78356	-0.3919	0.72282	T	0.262	0.63339	T	9	0.009312004	0.00210	T	.	.	.	0.364	0.68407	.	.	0.244539031024	0.24083	0.9567365325411059	0.95658	2.76950302636	0.98794	0.747094035149	0.74018	T	0.303789	0.67612	T	-0.0878043	0.38437	T	0.129667	0.78872	D	0.0219382681559926	0.00902	T	0.851715	0.56785	D	0.50696236	0.67502	0.340587	0.59809	0.50696236	0.67503	0.340587	0.59808	-3.864	0.21764	T	.	.	0.636	0.72332	P	.;.	.;.	4.742912	0.76508	26.5	0.99817844683714196	0.90061	0.94132	0.60209	D	AEFDBHCI	0.889863	0.82435	D	0.741130192078565	0.82326	7.735127	0.707858982232676	0.82975	7.902083	0.999999999977627	0.74766	0.660085	0.49399	0	0.685571	0.66316	0	0.662677	0.59975	0	0.638787	0.57140	0	.	.	5.17	5.17	0.70848	7.280000	0.77977	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.011	0.58139	844	0.36711	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	143.53	35	chr2	70993734	.	T	C	143.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.09;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.98;ReadPosRankSum=1.04;SOR=0.512	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1046	6	0	1	0
chr2	71070814	71070814	A	T	exonic	NAGK	.	nonsynonymous SNV	NAGK:NM_001330425:exon2:c.A35T:p.D12V,NAGK:NM_001330426:exon3:c.A35T:p.D12V,NAGK:NM_001365466:exon3:c.A35T:p.D12V,NAGK:NM_017567:exon3:c.A188T:p.D63V	.	423	1083	16	0	0	16	0.00733272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.023547853405	0.0008	0.000798722	0.0014	0.0002	0.0002	0	0.0024	0.0014	0.0022	0.0031	0.0012613	195	154602	rs150821125	0.0011	0.0011	0.0010	0.0012	0.0029	0.0011	0.0011	0.0026	0.0025	0.0001	0.0002	0.0021	5.038e-05	0.0036	0.0014	0.0009	0.0013	0.0029	0.0008	0.0008	0.0009	0.0007	0.0035	0.0007	0.0006	0.0022	0.0018	9.62e-05	0	0.0001	0.0020	0	0.0019	0	0.0011	0	0.0035	0.046	0.45393	D	0.036	0.52060	D	0.992	0.64738	D	0.894	0.63417	P	0.000002	0.62929	D	0.097482	1	0.81001	D	2.28	0.64929	M	1.38	0.34050	T	-3.73	0.70920	D	0.59	0.61764	-0.7414	0.58381	T	0.233	0.59892	T	10	0.011817336	0.00257	T	0.023548	0.46515	T	0.214	0.50650	.	.	0.538468847496	0.53497	0.8059955393416007	0.80554	0.132631176119	0.14947	0.39054608345	0.23746	T	0.356738	0.78410	T	-0.349555	0.04755	T	-0.278252	0.46982	T	0.0805116684489554	0.10053	T	0.90111	0.71149	D	0.8182353	0.85101	0.5553722	0.74284	0.8182353	0.85103	0.5553722	0.74284	-12.052	0.85811	D	.	.	0.402	0.59700	A	.;.;.;.;.;.	.;.;.;.;.;.	4.675165	0.74757	26.2	0.99151072199549117	0.53820	0.90238	0.51257	D	ALL	0.760207	0.69830	D	0.304148349250532	0.56361	3.800712	0.34975443707376	0.58493	4.020069	0.999999995679237	0.74766	0.722319	0.85440	0	0.504199	0.08210	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	4.95	3.75	0.42236	5.172000	0.64838	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9101:0.0:0.0899:0.0	9.104	0.35848	872	0.31118	.;.;.;ATPase, BadF/BadG/BcrA/BcrD type;ATPase, BadF/BadG/BcrA/BcrD type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	1022.44	35	chr2	71070814	.	A	T	1022.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.598;DP=277;ExcessHet=0;FS=0.782;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=1.91;SOR=0.6	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	6	0	1	0
chr2	71424651	71424651	C	A	exonic	ZNF638	.	nonsynonymous SNV	ZNF638:NM_001014972:exon23:c.C4526A:p.T1509N,ZNF638:NM_001252612:exon23:c.C4526A:p.T1509N,ZNF638:NM_001252613:exon23:c.C4526A:p.T1509N,ZNF638:NM_014497:exon23:c.C4526A:p.T1509N	.	.	.	.	.	.	.	.	0.6001	0.476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.0113291735261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.16	0.31427	T	0.895	0.49247	P	0.502	0.47702	P	0.006881	0.31745	N	0.155473	0.862501	0.28333	N	2.24	0.63355	M	1.4	0.33630	T	-1.15	0.29525	N	0.297	0.33578	-1.1258	0.01994	T	0.076	0.30492	T	10	0.1533114	0.28942	T	0.011329	0.28845	T	0.036	0.09122	0.135	0.03920	0.0675242888579	0.06100	0.13129775226696705	0.13054	0.183450680259	0.20635	0.340507626534	0.16513	T	0.05447	0.29735	T	-0.153104	0.27828	T	-0.4577	0.26851	T	0.904921591281891	0.55852	D	0.891611	0.62654	D	0.15912564	0.35762	0.14592259	0.34589	0.15912564	0.35762	0.14592259	0.34588	-3.79	0.20655	T	.	.	0.083	0.13597	B	.;.	.;.	3.960645	0.58084	23.9	0.98996565571031192	0.50065	0.95658	0.65609	D	AEFGBI	0.364343	0.45291	N	0.0496702045232919	0.44127	2.692474	0.125143836688042	0.45839	2.840027	0.999999970085578	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.591603	0.36755	0	.	.	4.83	4.83	0.61880	1.325000	0.33330	.	.	0.597000	0.34315	0.999000	0.42656	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	13.293	0.59715	633	0.64743	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr2	71424651	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1093	6	1	0	0
chr2	71427157	71427157	C	T	exonic	ZNF638	.	nonsynonymous SNV	ZNF638:NM_001014972:exon24:c.C5288T:p.A1763V,ZNF638:NM_001252612:exon24:c.C5288T:p.A1763V,ZNF638:NM_001252613:exon24:c.C5288T:p.A1763V,ZNF638:NM_014497:exon24:c.C5288T:p.A1763V	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.0118825987567	7.7e-05	0.000199681	3.3e-05	9.643e-05	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs140596491	1.575e-05	1.573e-05	1.09e-05	2.065e-05	9.311e-05	1.049e-05	8.76e-06	4.594e-05	3.283e-05	0	0	0	0	0	0	1.08e-05	4.975e-05	9.311e-05	4.599e-05	4.594e-05	1.286e-05	8.063e-05	0.0004	2.109e-05	1.527e-05	7.293e-05	3.03e-05	2.408e-05	0	0	0	0	0	0	5.882e-05	0	0.0004	0.005	0.63226	D	0.016	0.60972	D	0.225	0.30426	B	0.032	0.22131	B	0.002571	0.36316	N	0.125120	0.993046	0.81001	D	0.695	0.17993	N	1.17	0.37910	T	-1.17	0.29933	N	0.258	0.29197	-1.0860	0.06227	T	0.050	0.21378	T	10	0.042135656	0.02934	T	0.011883	0.29939	T	0.048	0.13305	.	.	0.0675242888579	0.06100	0.0836992870983337	0.08303	0.0360325663681	0.03802	0.621238708496	0.55904	T	0.04773	0.27809	T	-0.263489	0.12494	T	-0.379591	0.35771	T	0.0372960266170018	0.03207	T	0.945105	0.79107	D	0.078847945	0.17980	0.09526781	0.22586	0.078847945	0.17979	0.09526781	0.22586	-3.941	0.22918	T	.	.	0.208	0.45261	B	.;.	.;.	4.321037	0.66132	24.9	0.99899257420881238	0.97124	0.84961	0.44058	D	AEFBI	0.166879	0.29351	N	-0.151051318390667	0.35190	2.018143	0.0068806220999689	0.40033	2.382844	0.657708131195867	0.22236	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.71	3.8	0.42887	1.855000	0.39018	.	.	0.599000	0.40250	0.964000	0.33853	1.000000	0.68203	0.981000	0.58702	0.1572:0.7597:0.0:0.083	8.193	0.30539	633	0.64743	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	579.63	55	chr2	71427157	.	C	T	579.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.854;DP=232;ExcessHet=0;FS=1.049;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-0.662;SOR=0.973	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1017	6	0	1	0
chr2	71660585	71660585	T	C	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon43:c.T4778C:p.I1593T,DYSF:NM_001130986:exon43:c.T4781C:p.I1594T,DYSF:NM_001130455:exon44:c.T4823C:p.I1608T,DYSF:NM_001130977:exon44:c.T4841C:p.I1614T,DYSF:NM_001130980:exon44:c.T4871C:p.I1624T,DYSF:NM_001130984:exon44:c.T4844C:p.I1615T,DYSF:NM_001130985:exon44:c.T4874C:p.I1625T,DYSF:NM_003494:exon44:c.T4820C:p.I1607T,DYSF:NM_001130978:exon45:c.T4883C:p.I1628T,DYSF:NM_001130979:exon45:c.T4913C:p.I1638T,DYSF:NM_001130981:exon45:c.T4934C:p.I1645T,DYSF:NM_001130982:exon45:c.T4916C:p.I1639T,DYSF:NM_001130983:exon45:c.T4886C:p.I1629T,DYSF:NM_001130987:exon45:c.T4937C:p.I1646T	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	2	1484	36	0	0	36	0.011984	.	.	YES	194665	Qualitative_or_quantitative_defects_of_dysferlin|not_specified|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|Miyoshi_muscular_dystrophy_1|DYSF-related_disorder|Autosomal_recessive_limb-girdle_muscular_dystrophy	MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448|.|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.363	.	0.0012	0.00319489	0.0033	9.61e-05	0.0010	0.0002	0.0005	0.0026	0.0044	0.0127	0.0029172	451	154602	rs146384562	0.0021	0.0021	0.0017	0.0024	0.0136	0.0020	0.0020	0.0129	0.0126	0.0002	0.0010	0.0017	0	0.0014	0.0064	0.0013	0.0025	0.0136	0.0017	0.0017	0.0015	0.0019	0.0151	0.0015	0.0015	0.0124	0.0113	9.622e-05	0	0.0037	0.0023	0	0.0006	0.0034	0.0016	0.0009	0.0151	0.001	0.78490	D	0.038	0.51421	D	0.0	0.17989	B	0.003	0.30579	B	0.004116	0.34102	N	0.313928	0.69987	0.33410	D	1.27	0.32069	L	-0.58	0.71425	T	-3.38	0.66780	D	0.624	0.64223	-0.4479	0.70469	T	0.221	0.58447	T	10	0.012410134	0.00267	T	.	.	.	0.363	0.68319	.	.	0.760002136387	0.75782	0.6077555353843563	0.60707	0.208774122506	0.23348	0.392420083284	0.24010	T	0.752	0.93211	D	-0.293494	0.09288	T	-0.183329	0.56213	T	0.0465958301588332	0.04891	T	0.964204	0.86724	D	0.32428068	0.54999	0.49371374	0.70717	0.46025723	0.64687	0.4232503	0.66202	-10.4	0.76271	D	0.3412174310421623	0.43894	0.139	0.33755	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.520026	0.70858	25.6	0.9956121916625863	0.71769	0.96820	0.71115	D	AEFBI	0.737569	0.68272	D	0.0548768012775958	0.44368	2.712078	0.242070305115118	0.52198	3.396399	0.999999998182358	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	5.135000	0.64617	.	.	0.665000	0.62972	0.903000	0.31499	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.122	0.64726	418	0.81602	.;.;.;.;C2 domain|C2 domain|C2 domain|Ferlin, fifth C2 domain;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007064	0.000000	0.004076	0.020588	0.000000	0.008621	0.012346	0.000000	0.1429	207.19	34	chr2	71660585	.	T	C	207.19	.	AC=2;AF=0.143;AN=14;DP=210;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=29.6;SOR=1.609	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1153	6	1	0	0
chr2	73081095	73081095	-	TCC	exonic	RAB11FIP5	.	nonframeshift insertion	RAB11FIP5:NM_001371272:exon4:c.2136_2137insGGA:p.G712_R713insG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs551578436	0.0032	0.0026	0.0031	0.0032	0.0179	0.0031	0.0031	0.0141	0.0127	0.0037	0.0026	0.0020	0.0042	0.0013	0.0179	0.0029	0.0041	0.0114	0.0033	0.0032	0.0034	0.0031	0.0087	0.0030	0.0029	0.0066	0.0058	0.0035	0	0.0026	0.0023	0.0040	0.0017	0.0069	0.0031	0.0039	0.0087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	248.12	8	chr2	73081095	.	T	TTCC	248.12	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.319;DP=54;ExcessHet=0.4139;FS=2.276;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.09;ReadPosRankSum=1.65;SOR=0.654	GT:AD:DP:GQ:PL	0/1:3,5:8:99:192,0,108	5	0	1	1
chr2	73081494	73081494	C	T	exonic	RAB11FIP5	.	nonsynonymous SNV	RAB11FIP5:NM_001371272:exon4:c.G1738A:p.A580T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	.	.	.	.	.	.	.	.	0.00011	17	154602	rs537059021	0.0017	0.0014	0.0017	0.0017	0.0019	0.0016	0.0016	0.0018	0.0018	0.0002	0.0007	0	3.757e-05	0.0015	0.0007	0.0019	0.0013	0.0003	0.0013	0.0013	0.0014	0.0012	0.0021	0.0012	0.0011	0.0018	0.0017	0.0005	0	0.0002	0	0	0.0027	0	0.0021	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99689	0.43488	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01375404	0.00291	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007789	0.07174	T	.	.	.	.	.	.	.	.	.	0.30107	0.05662	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05623	B	.	.	-0.084770	0.03731	0.770	0.75291843848132245	0.11018	0.01744	0.05500	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.998814191445384	0.37733	0.138741	0.03158	2	0.109994	0.03358	0	0.158366	0.03945	2	0.109871	0.03346	0	0.14311	0.26916	4.92	-1.7	0.07721	-0.463000	0.06773	-0.471000	0.08978	-0.140000	0.12423	0.027000	0.20232	0.689000	0.26165	0.762000	0.36218	0.0:0.52:0.133:0.347	5.989	0.18682	579	0.69780	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	51.79	1	chr2	73081494	.	C	T	51.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.98;DP=44;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.4;ReadPosRankSum=-0.366;SOR=1.802	GT:AD:DP:GQ:PL	0/0:19,0:19:57:0,57,579	5	0	1	1
chr2	73265335	73265335	G	A	exonic	FBXO41	.	nonsynonymous SNV	FBXO41:NM_001371389:exon5:c.C1511T:p.A504V,FBXO41:NM_001080410:exon9:c.C1511T:p.A504V	.	388	1096	36	2	0	40	0.0179211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	.	0.0003	0.0107827	0.0078	0.0006	0.0518	0.0004	0	0.0008	0.0047	0.0162	0.0070956	1097	154602	rs188487265	0.0030	0.0030	0.0026	0.0033	0.0480	0.0029	0.0029	0.0463	0.0456	0.0004	0.0480	0.0011	0.0014	0.0002	0.0097	0.0003	0.0037	0.0163	0.0058	0.0058	0.0045	0.0071	0.0462	0.0054	0.0053	0.0434	0.0423	0.0006	0	0.0462	0.0009	0.0012	0	0.0068	0.0006	0.0085	0.0157	0.476	0.08335	T	0.442	0.13252	T	0.0	0.02946	B	0.0	0.01387	B	0.847931	0.08984	N	0.917792	1	0.08975	N	0.55	0.14455	N	.	.	.	-0.55	0.16799	N	0.072	0.04547	-1.0155	0.25175	T	0.006	0.02206	T	9	0.0017401278	0.00022	T	.	.	.	0.003	0.00094	.	.	0.138757226776	0.13463	0.18048622107473394	0.17967	0.301249995044	0.32469	0.411466300488	0.26660	T	0.006353	0.05784	T	-0.724524	0.00026	T	-0.778468	0.02500	T	0.00164849263473556	0.00017	T	0.430157	0.11673	T	0.027925882	0.02054	0.0304026	0.01492	0.027925882	0.02053	0.0304026	0.01492	-4.233	0.27226	T	.	.	0.062	0.01328	B	.;.;.	.;.;.	-0.518353	0.01809	0.142	0.72745171607099846	0.10081	0.06569	0.12583	N	AEFDBI	0.053189	0.09562	N	-1.45363776807987	0.02188	0.09635119	-1.46179851677538	0.02665	0.1229868	0.989634082244431	0.31888	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.586402	0.36253	0	.	.	5.39	-3.03	0.05100	-0.510000	0.06411	-0.252000	0.10498	-1.545000	0.00970	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5201:0.0:0.2657:0.2142	5.979	0.18627	587	0.69154	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009082	0.000000	0.006793	0.005848	0.000000	0.000000	0.021472	0.015152	0.07143	358.49	43	chr2	73265335	.	G	A	358.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.785;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=-1.528;SOR=0.622	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1042	6	0	1	0
chr2	73448563	73448563	A	G	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon8:c.A2036G:p.Y679C,ALMS1:NM_015120:exon8:c.A2036G:p.Y679C	Alstrom syndrome, Autosomal recessive	1	1512	7	2	0	11	0.00362438	.	.	YES	207019	Cardiovascular_phenotype|not_specified|Monogenic_diabetes|Alstrom_syndrome|not_provided	MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.191	0.00472583065026	0.0019	0.000798722	0.0016	0.0004	0.0005	0	0.0008	0.0021	0.0011	0.0023	0.0016753	259	154602	rs199573929	0.0025	0.0025	0.0025	0.0025	0.0029	0.0024	0.0024	0.0028	0.0028	0.0004	0.0004	3.828e-05	2.52e-05	0.0006	0.0007	0.0029	0.0017	0.0028	0.0015	0.0015	0.0016	0.0014	0.0027	0.0013	0.0013	0.0022	0.0021	0.0006	0.0033	0.0007	0	0	0.0004	0	0.0025	0.0009	0.0027	.	.	.	0.109	0.37589	T	.	.	.	.	.	.	0.664740	0.10396	N	0.821953	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.573	0.59648	-1.0407	0.17101	T	0.064	0.26491	T	10	0.015712231	0.00330	T	0.004726	0.11753	T	.	.	.	.	0.214338557667	0.21045	0.19394353760193353	0.19312	.	.	0.383184611797	0.22708	T	0.037831	0.24619	T	-0.218648	0.18177	T	-0.0845151	0.64573	T	0.0355078923168753	0.02896	T	0.507849	0.16117	T	0.058439568	0.11757	0.049581744	0.07607	0.058439568	0.11756	0.049581744	0.07607	-6.795	0.52522	T	.	.	0.113	0.22171	B	.;.;.	.;.;.	1.267483	0.16661	12.68	0.97187471934253267	0.32749	0.07874	0.13865	N	AEFBI	0.042849	0.06699	N	-0.517791218083216	0.21505	1.141729	-0.793688910764403	0.14650	0.7665409	0.899721521882538	0.26058	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.11	-3.56	0.04330	-0.105000	0.10876	-4.647000	0.02052	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.3048:0.2808:0.0:0.4145	5.059	0.13883	491	0.76657	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1201.44	77	chr2	73448563	.	A	G	1201.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.06;DP=588;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=0.499;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,46:124:99:0|1:73448542_T_G:1212,0,2044:73448542	6	0	1	0
chr2	73491392	73491392	A	G	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon10:c.A9433G:p.I3145V,ALMS1:NM_015120:exon10:c.A9433G:p.I3145V	Alstrom syndrome, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1512996	Alstrom_syndrome	MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.039	0.00179653066477	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs767987000	7.525e-06	7.524e-06	1.089e-05	4.125e-06	0.0002	4.04e-06	2.95e-06	3.81e-06	2.76e-06	0	2.236e-05	0	0	0	0.0002	8.094e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.857	0.03438	T	.	.	.	.	.	.	0.808357	0.09270	N	0.902049	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.051	0.02366	-0.9464	0.41582	T	0.014	0.05705	T	10	0.05925542	0.07093	T	0.001797	0.03089	T	.	.	.	.	0.156986980423	0.15292	0.013586750480120232	0.01316	.	.	0.335635155439	0.15783	T	0.012815	0.11196	T	-0.235653	0.15909	T	-0.493411	0.23033	T	0.0146883392456449	0.00305	T	0.505449	0.15971	T	0.025452707	0.01485	0.0642278	0.12840	0.025452707	0.01484	0.0642278	0.12840	-3.126	0.11597	T	0.15670904715840114	0.18874	0.093	0.14062	B	.;.;.	.;.;.	0.831945	0.12032	8.590	0.92142440387811841	0.21500	0.01575	0.05137	N	AEFBI	0.030959	0.03216	N	-0.796096574645153	0.13411	0.6604848	-0.813609417435319	0.14166	0.7388027	6.3126400947501E-5	0.04366	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.25	0.432	0.15742	0.355000	0.19902	1.594000	0.27546	0.754000	0.88378	0.000000	0.06391	0.029000	0.21193	0.978000	0.57271	0.5276:0.0:0.1022:0.3702	3.192	0.06226	658	0.62094	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	576.46	39	chr2	73491392	.	A	G	576.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.119;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-1.082;SOR=0.848	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr2	73701042	73701043	TA	-	exonic	NAT8B	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	100.4	86	chr2	73701041	.	CTA	C	100.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.732;DP=776;ExcessHet=0;FS=8.451;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=0.439;SOR=2.783	GT:AD:DP:GQ:PL	0/0:173,0:173:99:0,120,1800	6	0	1	0
chr2	74428306	74428306	T	C	exonic	RTKN	.	nonsynonymous SNV	RTKN:NM_001015055:exon9:c.A1048G:p.T350A,RTKN:NM_001015056:exon9:c.A898G:p.T300A,RTKN:NM_033046:exon10:c.A1009G:p.T337A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.0123381833161	.	0.000599042	3.295e-05	9.61e-05	0	0	0	4.495e-05	0	0	5.17e-05	8	154602	rs184760564	1.847e-05	1.847e-05	2.178e-05	1.513e-05	0.0005	1.265e-05	1.084e-05	0.0001	0.0001	0.0003	0	0	2.519e-05	0	0.0005	6.295e-06	9.934e-05	1.159e-05	1.97e-05	1.968e-05	0	4.027e-05	7.216e-05	5.24e-06	2.45e-06	1.913e-05	1.03e-05	7.216e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.027981	0.25672	N	0.418688	0.999999	0.08975	N	0.05	0.08135	N	-0.93	0.75215	T	1.56	0.00702	N	0.094	0.07535	-0.9332	0.43665	T	0.089	0.34408	T	10	0.010817587	0.00239	T	0.012338	0.30825	T	0.079	0.23065	.	.	0.52186301387	0.51830	0.2336192512231364	0.23276	0.238704075767	0.26421	0.291917800903	0.09201	T	0.159479	0.50293	T	-0.425464	0.01579	T	-0.612257	0.11802	T	0.00778980757270366	0.00091	T	0.637136	0.25071	T	0.033584792	0.03606	0.028284088	0.01050	0.033584792	0.03606	0.028284088	0.01050	-3.42	0.17929	T	.	.	0.059	0.00780	B	.;.;.	.;.;.	-0.922184	0.00889	0.032	0.79788329297198801	0.12901	0.03880	0.09249	N	AEFBCI	0.063894	0.12375	N	-1.27169572396529	0.04020	0.1806893	-1.26702566955901	0.04883	0.2314524	0.99999833563159	0.74766	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.84	-4.23	0.03530	-0.442000	0.06943	-1.499000	0.05301	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.912000	0.44740	0.292:0.38:0.0:0.3281	3.990	0.09024	523	0.74147	.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1741.49	33	chr2	74428306	.	T	C	1741.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.396;DP=344;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=-0.649;SOR=0.7	GT:AD:DP:GQ:PL	0/1:85,77:162:99:1752,0,2004	6	0	1	0
chr2	74482366	74482366	G	A	exonic	CCDC142	.	nonsynonymous SNV	CCDC142:NM_001365575:exon1:c.C472T:p.P158S,CCDC142:NM_032779:exon1:c.C472T:p.P158S	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00387396287957	.	.	2.316e-05	0	0	0	0	0	0	9.504e-05	3.84e-05	1	26028	rs781520558	1.393e-06	1.368e-06	0	2.81e-06	2.998e-05	2.3e-07	9e-08	.	.	2.998e-05	0	0	0	0	0	9.085e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392	0.11370	T	0.438	0.13441	T	0.002	0.17573	B	0.003	0.14300	B	0.822507	0.06892	N	1.103020	1	0.08975	N	0	0.06538	N	3.23	0.06931	T	0.53	0.03140	N	0.084	0.06059	-0.9550	0.40096	T	0.013	0.04843	T	10	0.04573798	0.03679	T	0.003874	0.09086	T	0.040	0.10527	0.258	0.20002	0.288727942641	0.28479	0.03316493377936429	0.03264	0.862885287998	0.69039	0.393531054258	0.24166	T	0.001637	0.01065	T	-0.197724	0.21133	T	-0.521794	0.20112	T	0.0747295845415415	0.09299	T	0.49655	0.15423	T	0.02086202	0.00661	0.054154564	0.09262	0.02086202	0.00661	0.054154564	0.09261	-4.048	0.24519	T	.	.	0.087	0.15070	B	.;.	.;.	0.500480	0.08693	5.468	0.75722795522899711	0.11186	0.02876	0.07652	N	ALL	0.070729	0.14053	N	-1.13461456367128	0.06037	0.2768429	-1.12127349792135	0.07294	0.354272	0.999999996209061	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	4.56	1.57	0.22490	0.655000	0.24618	2.555000	0.33284	-0.650000	0.04392	0.048000	0.21332	0.990000	0.31317	0.001000	0.02609	0.216:0.0:0.5922:0.1918	3.722	0.07989	517	0.74620	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	359.46	33	chr2	74482366	.	G	A	359.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=-1.881;SOR=0.486	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1445	6	0	1	0
chr2	74491141	74491141	G	A	exonic	TTC31	.	nonsynonymous SNV	TTC31:NM_001376144:exon4:c.G44A:p.R15Q,TTC31:NM_001376134:exon5:c.G347A:p.R116Q,TTC31:NM_001376135:exon5:c.G347A:p.R116Q,TTC31:NM_001376138:exon5:c.G128A:p.R43Q,TTC31:NM_001376139:exon5:c.G128A:p.R43Q,TTC31:NM_001376140:exon5:c.G128A:p.R43Q,TTC31:NM_001376141:exon5:c.G128A:p.R43Q,TTC31:NM_001376145:exon5:c.G128A:p.R43Q,TTC31:NM_001376129:exon6:c.G560A:p.R187Q,TTC31:NM_001376130:exon6:c.G560A:p.R187Q,TTC31:NM_001376132:exon6:c.G560A:p.R187Q,TTC31:NM_001376133:exon6:c.G560A:p.R187Q,TTC31:NM_001376136:exon6:c.G560A:p.R187Q,TTC31:NM_001376137:exon6:c.G560A:p.R187Q,TTC31:NM_022492:exon6:c.G560A:p.R187Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.0385636800635	.	0.000599042	0.0002	0	0	0	0.0002	4.495e-05	0.0011	0.0010	0.0001746	27	154602	rs559169951	0.0001	0.0001	8.44e-05	0.0001	0.0012	9.805e-05	9.221e-05	0.0010	0.0010	2.987e-05	0	0	0	0.0004	0.0003	2.698e-05	6.623e-05	0.0012	0.0001	0.0001	8.994e-05	0.0001	0.0023	7.086e-05	5.744e-05	0.0013	0.0010	0	0	0	0	0	0.0004	0	2.94e-05	0	0.0023	0.0	0.91255	D	0.0	0.92824	D	0.89	0.48942	P	0.082	0.29098	B	0.471275	0.12275	N	0.733823	1	0.08975	N	1.1	0.28011	L	1.0	0.79072	T	-2.77	0.58733	D	0.525	0.57946	-0.5368	0.67285	T	0.508	0.81503	D	10	0.013127476	0.00280	T	0.038564	0.58299	D	0.229	0.52916	.	.	0.809627414608	0.80784	0.13045283044747077	0.12970	0.496165126897	0.48136	0.336551964283	0.15921	T	0.157879	0.50067	T	-0.221575	0.17779	T	-0.141495	0.59988	T	0.141398834877578	0.16395	T	0.865313	0.57956	D	0.12774141	0.29885	0.1623589	0.37718	0.12774141	0.29885	0.1623589	0.37717	-8.542	0.65222	D	.	.	0.325	0.54854	B	.;.;.	.;.;.	3.699337	0.52748	23.3	0.99867753839276596	0.94547	0.14892	0.18639	N	AEFGBI	0.060749	0.11567	N	-0.135957378160356	0.35833	2.063373	-0.245115895776798	0.29939	1.681536	0.998582504176612	0.37247	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.85	2.04	0.25787	1.562000	0.35961	2.927000	0.35595	0.676000	0.76740	0.437000	0.26463	0.630000	0.25861	0.993000	0.69303	0.2341:0.0:0.7659:0.0	5.988	0.18674	366	0.84579	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	70.44	33	chr2	74491141	.	G	A	70.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=1.83;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1026	6	0	1	0
chr2	74530221	74530221	T	C	exonic	HTRA2	.	nonsynonymous SNV	HTRA2:NM_001321727:exon1:c.T215C:p.L72P,HTRA2:NM_001321728:exon1:c.T215C:p.L72P,HTRA2:NM_013247:exon1:c.T215C:p.L72P,HTRA2:NM_145074:exon1:c.T215C:p.L72P	3-methylglutaconic aciduria, type VIII, Autosomal recessive	0	1490	32	0	0	32	0.0106242	.	.	.	288021	Parkinson_disease_13,_autosomal_dominant,_susceptibility_to|HTRA2-related_disorder|not_provided	MONDO:MONDO:0012466,MedGen:C1853202,OMIM:610297,Orphanet:2828|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.057	.	0.0022	0.00159744	0.0027	0.0009	0.0016	0	0.0002	0.0034	0.0044	0.0037	0.0022703	351	154602	rs150047108	0.0035	0.0035	0.0035	0.0035	0.0040	0.0034	0.0034	0.0039	0.0039	0.0004	0.0018	7.678e-05	0	0.0002	0.0038	0.0040	0.0029	0.0039	0.0021	0.0021	0.0021	0.0021	0.0052	0.0019	0.0018	0.0036	0.0031	0.0007	0	0.0022	0.0003	0.0002	0	0	0.0032	0.0043	0.0052	0.001	0.78490	D	0.127	0.35082	T	0.001	0.12183	B	0.001	0.08700	B	0.044548	0.23626	N	0.267010	0.999493	0.21100	N	0.805	0.20218	L	2.35	0.16217	T	0.55	0.24026	N	0.223	0.32037	-1.0225	0.22899	T	0.020	0.08593	T	10	0.0052509904	0.00115	T	.	.	.	0.057	0.16321	.	.	0.266385636622	0.26244	0.6620386947890653	0.66140	1.39601714628	0.85086	0.625166535378	0.56460	T	0.087708	0.38001	T	-0.575252	0.00206	T	-0.600242	0.12792	T	0.0185566138682526	0.00570	T	0.513449	0.16474	T	0.08012084	0.18341	0.06895128	0.14464	0.060067747	0.12282	0.076975636	0.17103	-6.625	0.51923	T	.	.	0.067	0.02861	B	.;.;.	.;.;.	3.209516	0.43678	21.8	0.99085721058758613	0.52075	0.07325	0.13346	N	AEFDBCI	0.193850	0.32096	N	-0.844093685387519	0.12196	0.5929972	-0.83405054399255	0.13671	0.7104868	0.999998786389603	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	5.0	-0.323	0.12079	0.717000	0.25523	0.738000	0.21138	0.578000	0.29377	0.125000	0.23262	0.641000	0.25915	0.119000	0.19126	0.151:0.1781:0.3127:0.3581	0.962	0.01309	243	0.90483	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003024	0.005051	0.002717	0.000000	0.050000	0.008621	0.003049	0.011364	0.08333	342.27	36	chr2	74530221	.	T	C	342.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.98;DP=195;ExcessHet=0;FS=1.341;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=1.04;SOR=0.412	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1106	5	0	1	1
chr2	79027903	79027903	G	A	exonic	REG3G	.	nonsynonymous SNV	REG3G:NM_001270040:exon4:c.G292A:p.G98S,REG3G:NM_001008387:exon5:c.G430A:p.G144S,REG3G:NM_198448:exon5:c.G430A:p.G144S	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00605639622186	0.0008	0.000998403	0.0009	0.0002	0.0003	0	0.0012	0.0012	0.0033	0.0012	0.0009508	147	154602	rs149243674	0.0012	0.0012	0.0012	0.0012	0.0013	0.0012	0.0012	0.0013	0.0013	0.0001	0.0003	7.653e-05	0	0.0020	0.0009	0.0013	0.0012	0.0011	0.0008	0.0008	0.0007	0.0008	0.0012	0.0006	0.0006	0.0010	0.0009	9.633e-05	0	0.0005	0	0	0.0015	0	0.0012	0.0014	0.0008	0.014	0.53172	D	0.084	0.45530	T	0.644	0.40509	P	0.596	0.50617	P	0.002139	0.37183	N	0.122449	1	0.08975	N	2.55	0.74443	M	2.23	0.19311	T	-4.92	0.83224	D	0.315	0.38027	-1.1054	0.03497	T	0.070	0.28577	T	10	0.022979647	0.00588	T	0.006056	0.15816	T	0.036	0.09122	.	.	0.389750110748	0.38591	0.2531217076038667	0.25226	0.0783650798132	0.08816	0.416141748428	0.27305	T	0.026269	0.19473	T	-0.554084	0.00275	T	-0.598759	0.12915	T	0.0881015911426633	0.10990	T	0.758424	0.38228	T	0.21697932	0.44170	0.28478312	0.54478	0.21697932	0.44170	0.28478312	0.54477	-5.01	0.36948	T	.	.	0.246	0.49098	B	.;.;.	.;.;.	2.262385	0.28910	17.95	0.99003895905632622	0.50210	0.07146	0.13171	N	AEFI	0.121472	0.23615	N	-0.19011587455927	0.33546	1.904327	-0.337278258794687	0.26905	1.489242	4.73482427790219E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.73	2.9	0.32809	1.157000	0.31335	0.126000	0.14982	0.676000	0.76740	0.021000	0.19753	0.000000	0.08366	0.011000	0.09372	0.2297:0.0:0.7703:0.0	5.986	0.18666	979	0.04160	C-type lectin-like|C-type lectin-like|C-type lectin-like;C-type lectin-like|C-type lectin-like|C-type lectin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1612.44	36	chr2	79027903	.	G	A	1612.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.39;DP=318;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=0.067;SOR=0.676	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1369	6	0	1	0
chr2	84624296	84624296	G	A	exonic	DNAH6	.	nonsynonymous SNV	DNAH6:NM_001370:exon27:c.G4103A:p.G1368D	.	438	1080	4	0	0	4	0.00184843	.	.	.	3244185	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.341	0.0499356089134	.	.	4.639e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs756700279	5.077e-05	4.857e-05	2.963e-05	7.249e-05	0.0005	4.104e-05	3.767e-05	0.0003	0.0003	0	2.808e-05	0	2.802e-05	0	0.0004	2.503e-05	5.171e-05	0.0005	0.0001	0.0001	0.0001	0.0002	0.0004	9.155e-05	7.709e-05	7.299e-05	3.032e-05	0	0.0164	6.558e-05	0	0	0	0	2.94e-05	0.0005	0.0004	0.063	0.36709	T	.	.	.	0.781	0.44300	P	0.334	0.42203	B	.	.	.	.	0.999949	0.51968	D	3.155	0.88459	M	-0.08	0.63911	T	-3.52	0.68412	D	0.529	0.56833	-0.3635	0.73159	T	0.295	0.66650	T	9	0.016208142	0.00341	T	0.049936	0.64027	D	0.341	0.66297	0.414	0.45216	0.622847267328	0.61978	0.5950417445498997	0.59434	0.238441029153	0.26390	0.573921978474	0.49231	T	0.050848	0.28712	T	-0.153431	0.27775	T	-0.0928702	0.63945	T	0.24354260529077	0.22581	T	0.788921	0.42853	T	0.4749162	0.65591	0.5644087	0.74790	0.4749162	0.65591	0.5644087	0.74791	-6.889	0.53218	T	.	.	0.146	0.32251	B	.;.	.;.	3.968976	0.58269	24.0	0.99746989670124009	0.83927	0.99734	0.99061	D	AEFI	0.929478	0.91530	D	0.630768609464418	0.75129	6.251795	0.672811647332521	0.80320	7.272708	0.999994629617168	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.38	5.38	0.77279	3.802000	0.55256	11.804000	0.96737	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.891	0.88790	700	0.57880	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1283.46	33	chr2	84624296	.	G	A	1283.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.042;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=-0.621;SOR=0.688	GT:AD:DP:GQ:PL	0/1:30,52:82:99:1294,0,667	6	0	1	0
chr2	85369768	85369768	C	T	exonic	ELMOD3	.	stopgain	ELMOD3:NM_001329793:exon6:c.C298T:p.Q100X,ELMOD3:NM_001135023:exon7:c.C298T:p.Q100X,ELMOD3:NM_001329792:exon7:c.C298T:p.Q100X,ELMOD3:NM_001135022:exon8:c.C298T:p.Q100X,ELMOD3:NM_001329791:exon8:c.C298T:p.Q100X,ELMOD3:NM_001135021:exon9:c.C298T:p.Q100X	.	433	1088	1	0	0	1	0.000459348	.	.	.	1291863	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	9.066e-05	0	0	0	0	0	0	0.0007	7.12e-05	11	154602	rs753265000	4.652e-05	4.72e-05	2.314e-05	7.013e-05	0.0008	3.728e-05	3.411e-05	0.0006	0.0006	0	0	0	0	0	0	8.993e-07	0	0.0008	3.285e-05	3.283e-05	0	6.725e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.000867	0.41335	D	0.247697	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.258	0.29197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267033	0.80174	D	0.529014	0.95190	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;Recessive;.;.;.	.;.;.;.;High;.;.;.	7.966231	0.97039	36	0.99723778984386746	0.82266	0.63741	0.32184	D	AEFDBCI	0.152568	0.27728	N	0.680733302988458	0.78369	6.857881	0.541855652038885	0.70833	5.563613	0.999999957478922	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	6.07	4.1	0.47196	0.971000	0.28993	1.685000	0.28035	0.599000	0.40250	0.470000	0.26722	0.953000	0.29079	0.971000	0.54645	0.3375:0.6625:0.0:0.0	13.195	0.59160	893	0.26510	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1440.44	34	chr2	85369768	.	C	T	1440.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.693;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=-0.231;SOR=0.684	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1259	6	0	1	0
chr2	85371517	85371517	G	A	exonic	ELMOD3	.	nonsynonymous SNV	ELMOD3:NM_001329793:exon8:c.G562A:p.D188N,ELMOD3:NM_001135023:exon9:c.G562A:p.D188N,ELMOD3:NM_001329792:exon9:c.G562A:p.D188N,ELMOD3:NM_001135022:exon10:c.G562A:p.D188N,ELMOD3:NM_001329791:exon10:c.G562A:p.D188N,ELMOD3:NM_001135021:exon11:c.G562A:p.D188N	.	432	1088	2	0	0	2	0.000918274	.	.	.	697686	not_provided|ELMOD3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.153	.	0.0058	0.00599042	0.0016	0.0178	0.0008	0	0	2.997e-05	0	0	0.0015847	245	154602	rs116470781	0.0005	0.0005	0.0006	0.0005	0.0186	0.0005	0.0005	0.0174	0.0169	0.0186	0.0007	0	0	0	0.0007	1.619e-05	0.0012	8.116e-05	0.0055	0.0055	0.0055	0.0055	0.0194	0.0052	0.0051	0.0183	0.0178	0.0194	0	0.0014	0	0	0	0	5.879e-05	0.0028	0.0002	0.349	0.19782	T	0.209	0.28032	T	0.711	0.42090	P	0.408	0.44733	B	0.000003	0.62929	D	0.100372	0.99994	0.51968	D	1.495	0.37439	L	1.57	0.29342	T	-2.3	0.51157	N	0.252	0.33250	-1.1229	0.02156	T	0.030	0.12979	T	10	0.00804764	0.00183	T	.	.	.	0.153	0.40148	.	.	0.456738291233	0.45297	0.25650109191909365	0.25564	0.206603004611	0.23089	0.535953998566	0.43875	T	0.031329	0.21993	T	-0.575582	0.00205	T	-0.583304	0.14251	T	0.0477304058170931	0.05096	T	0.825517	0.48813	T	0.18435946	0.39747	0.19287662	0.42826	0.23060946	0.45819	0.21746685	0.46412	-6.836	0.53917	T	0.2485217898777793	0.33649	0.151	0.33435	B	.;.;.;.;.;.	.;.;.;.;.;.	3.794483	0.54638	23.5	0.99878159472273664	0.95491	0.97703	0.76528	D	AEFGBI	0.826918	0.74631	D	-0.13154953095231	0.36023	2.076731	0.0382719049309889	0.41508	2.494928	0.999892496125353	0.45129	0.656854	0.48797	0	0.633656	0.55848	0	0.67347	0.61138	0	0.592323	0.36904	0	.	.	6.07	5.2	0.71720	6.503000	0.73611	7.472000	0.59162	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.905000	0.44082	0.0766:0.0:0.9234:0.0	13.143	0.58861	890	0.26919	ELMO domain;ELMO domain|ELMO domain;ELMO domain|ELMO domain;ELMO domain|ELMO domain;.;ELMO domain|ELMO domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.010101	0.008152	0.002924	0.000000	0.008621	0.000000	0.000000	0.07143	1373.44	35	chr2	85371517	.	G	A	1373.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.327;DP=323;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=1.74;SOR=0.642	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1089	6	0	1	0
chr2	85401608	85401608	C	T	exonic	CAPG	.	nonsynonymous SNV	CAPG:NM_001256139:exon4:c.G272A:p.R91Q,CAPG:NM_001256140:exon4:c.G272A:p.R91Q,CAPG:NM_001320732:exon4:c.G272A:p.R91Q,CAPG:NM_001320733:exon4:c.G272A:p.R91Q,CAPG:NM_001320734:exon4:c.G272A:p.R91Q,CAPG:NM_001747:exon4:c.G272A:p.R91Q	.	345	1175	2	0	0	2	0.00085034	.	.	.	2350946	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.097	0.00675875808644	7.7e-05	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs371246622	2.736e-05	2.736e-05	2.723e-05	2.75e-05	0.0003	2.063e-05	1.816e-05	0.0002	0.0001	0.0003	0	0	0	7.493e-05	0.0003	1.529e-05	9.935e-05	1.159e-05	3.285e-05	3.283e-05	3.853e-05	2.69e-05	0.0001	1.261e-05	7.98e-06	4.739e-05	3.053e-05	0.0001	0	0	0	0	0	0	0	0	0	0.327	0.22400	T	0.511	0.13953	T	0.609	0.39586	P	0.025	0.20508	B	0.000147	0.49130	D	0.184247	0.765684	0.34698	D	0.865	0.21413	L	0.49	0.55775	T	-0.6	0.18042	N	0.121	0.21188	-0.8756	0.50105	T	0.127	0.43339	T	10	0.18697086	0.34186	T	0.006759	0.17868	T	0.097	0.27909	.	.	0.367425347029	0.36354	0.3648453252557219	0.36398	0.199365988557	0.22332	0.447899281979	0.31656	T	0.094619	0.39453	T	-0.165507	0.25917	T	-0.392651	0.34241	T	0.214567628026853	0.21189	T	0.912709	0.75551	D	0.121604174	0.28593	0.06777021	0.14065	0.121604174	0.28593	0.06777021	0.14065	-5.346	0.43291	T	.	.	0.082	0.10739	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.340935	0.66595	25.0	0.99788561818573818	0.87484	0.49277	0.28396	N	AEFBI	0.463377	0.51232	N	0.117743417711327	0.47292	2.956862	0.216178300910761	0.50743	3.263306	0.999999974528301	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	1.531000	0.35624	5.922000	0.51181	0.599000	0.40250	0.182000	0.24089	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	15.703	0.77318	879	0.29470	Gelsolin-like domain;.;Gelsolin-like domain;Gelsolin-like domain;Gelsolin-like domain;Gelsolin-like domain;Gelsolin-like domain;Gelsolin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1527.45	35	chr2	85401608	.	C	T	1527.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.514;DP=320;ExcessHet=0;FS=2.416;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=1.52;SOR=0.488	GT:AD:DP:GQ:PL	0/1:54,63:117:99:1538,0,1328	6	0	1	0
chr2	86111126	86111126	G	A	exonic	PTCD3	.	nonsynonymous SNV	PTCD3:NM_017952:exon4:c.G208A:p.V70I	.	429	1087	6	0	0	6	0.00275229	.	.	.	3500778	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.101	0.00587499955453	0.0034	0.00219649	0.0028	0.0013	0.0005	0	0.0006	0.0034	0.0022	0.0055	0.0029366	454	154602	rs78436829	0.0051	0.0052	0.0052	0.0051	0.0061	0.0051	0.0050	0.0058	0.0058	0.0008	0.0007	7.654e-05	2.519e-05	0.0009	0.0010	0.0060	0.0044	0.0061	0.0027	0.0027	0.0030	0.0024	0.0047	0.0025	0.0024	0.0043	0.0042	0.0009	0	0.0015	0	0	0.0005	0	0.0047	0.0019	0.0044	0.102	0.30235	T	0.076	0.42614	T	0.962	0.55554	D	0.275	0.40079	B	0.000000	0.84330	D	0.000000	0.999962	0.52935	D	1.9	0.50570	L	1.28	0.35960	T	-0.17	0.09965	N	0.415	0.45520	-1.0984	0.04290	T	0.048	0.20355	T	10	0.00821355	0.00186	T	0.005875	0.15281	T	0.101	0.28911	.	.	0.403328974453	0.39946	0.3534244555339219	0.35256	0.0823410496369	0.09290	0.369762182236	0.20798	T	0.028522	0.20643	T	-0.373738	0.03409	T	-0.303369	0.44369	T	0.012380116950473	0.00202	T	0.735226	0.40508	T	0.13081987	0.30514	0.08742542	0.20319	0.13081987	0.30514	0.08742542	0.20319	-4.697	0.33367	T	.	.	0.096	0.17016	B	.;.	.;.	4.063906	0.60331	24.2	0.99191302351945199	0.54994	0.97599	0.75810	D	AEFBI	0.483281	0.52378	N	0.354417067729647	0.58972	4.073086	0.436233333890341	0.63836	4.625673	0.999999999811829	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.17	5.17	0.70848	5.348000	0.65773	5.133000	0.47665	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.0:1.0:0.0	16.801	0.85477	573	0.70213	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1200.53	37	chr2	86111126	.	G	A	1200.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.19;DP=237;ExcessHet=0;FS=2.189;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.91;ReadPosRankSum=-0.403;SOR=1.082	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1194	6	0	1	0
chr2	86489395	86489395	G	A	exonic	KDM3A	.	nonsynonymous SNV	KDM3A:NM_001146688:exon22:c.G3391A:p.V1131I,KDM3A:NM_018433:exon22:c.G3391A:p.V1131I	.	427	1070	25	0	0	25	0.0115473	.	.	.	3211294	KDM3A-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.321	.	0.0018	0.00259585	0.0031	0.0004	0.0003	0	0.0003	0.0022	0.0022	0.0129	0.0028331	438	154602	rs113985244	0.0030	0.0030	0.0027	0.0034	0.0138	0.0030	0.0029	0.0131	0.0128	0.0004	0.0005	0.0013	0	0.0004	0.0035	0.0026	0.0036	0.0138	0.0015	0.0015	0.0013	0.0017	0.0098	0.0013	0.0013	0.0076	0.0068	0.0004	0	0.0006	0.0009	0	0.0003	0	0.0022	0.0005	0.0098	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000005	0.62929	D	0.000000	1	0.81001	D	2.86	0.83026	M	-0.54	0.70950	T	-0.96	0.25551	N	0.673	0.76296	-0.0146	0.81951	T	0.493	0.80757	T	10	0.012894243	0.00275	T	.	.	.	0.321	0.64318	.	.	0.629913532416	0.62689	0.8643376973833354	0.86397	1.76735228877	0.91241	0.665424466133	0.62185	T	0.149377	0.48835	T	-0.196874	0.21258	T	-0.0445416	0.67393	D	0.0536403888337325	0.06129	T	0.933407	0.75038	D	0.35067454	0.57120	0.29161683	0.55187	0.35067454	0.57120	0.29161683	0.55186	-6.479	0.50124	T	.	.	0.473	0.63348	A	.;.;.;.	.;.;.;.	4.880774	0.80049	27.2	0.99883144504492227	0.95892	0.98021	0.78937	D	AEFBCI	0.839038	0.75649	D	0.835676445387142	0.88276	9.518712	0.834963123932061	0.92106	11.24048	0.999999999999964	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.31	5.31	0.75063	9.757000	0.98114	11.846000	0.97940	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.324	0.90189	499	0.76092	JmjC domain|JmjC domain;JmjC domain|JmjC domain;JmjC domain|JmjC domain;JmjC domain|JmjC domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	2167.44	36	chr2	86489395	.	G	A	2167.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.154;DP=340;ExcessHet=0;FS=3.784;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=0.023;SOR=0.574	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	6	0	1	0
chr2	86861844	86861844	G	-	exonic	CD8B	.	frameshift deletion	CD8B:NM_001178100:exon1:c.22delC:p.L8Sfs*6,CD8B:NM_004931:exon1:c.22delC:p.L8Sfs*6,CD8B:NM_172101:exon1:c.22delC:p.L8Sfs*6,CD8B:NM_172102:exon1:c.22delC:p.L8Sfs*6,CD8B:NM_172213:exon1:c.22delC:p.L8Sfs*6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	34.61	6	chr2	86861843	.	AG	A	34.61	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=70;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.1;MQRankSum=-1.221;QD=3.46;ReadPosRankSum=0.967;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:19,0:19:57:.:.:0,57,543:.	6	0	1	0
chr2	88087998	88087998	G	A	exonic	SMYD1	.	nonsynonymous SNV	SMYD1:NM_001330364:exon3:c.G451A:p.V151M,SMYD1:NM_198274:exon3:c.G451A:p.V151M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.380	0.114665158942	7.7e-05	0.000399361	0.0002	0.0006	0.0010	0	0	1.504e-05	0	0.0003	0.0001682	26	154602	rs144495632	6.43e-05	6.43e-05	6.942e-05	5.913e-05	0.0005	5.361e-05	4.976e-05	0.0004	0.0003	0.0004	0.0004	0	2.519e-05	0	0	8.093e-06	9.935e-05	0.0005	9.192e-05	9.185e-05	6.423e-05	0.0001	0.0006	5.523e-05	4.361e-05	0.0002	8.989e-05	0.0001	0	0.0003	0	0.0002	0	0	0	0	0.0006	0.008	0.58626	D	0.004	0.74150	D	1.0	0.90584	D	0.94	0.67560	D	0.000026	0.55875	D	0.121235	0.999997	0.81001	D	1.44	0.36004	L	-1.5	0.81318	D	-1.51	0.36787	N	0.259	0.31478	0.048	0.83208	D	0.570	0.84440	D	10	0.13631558	0.25936	T	0.114665	0.79359	D	0.380	0.69780	.	.	0.869781384212	0.86851	0.6220589442689816	0.62138	0.290956997048	0.31498	0.518037080765	0.41350	T	0.163478	0.50854	T	-0.183527	0.23212	T	-0.171399	0.57315	T	0.038173712261251	0.03362	T	0.781022	0.41604	T	0.27001575	0.50073	0.35635233	0.61147	0.27001575	0.50073	0.35635233	0.61147	-5.555	0.42379	T	.	.	0.261	0.49654	B	.;.	.;.	4.194546	0.63243	24.6	0.99899131202473845	0.97124	0.87940	0.47658	D	AEFDBHCI	0.643799	0.62028	D	0.543956925970662	0.69715	5.396483	0.540638366213474	0.70747	5.551061	0.996625742756846	0.34876	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.82	4.82	0.61641	3.037000	0.49465	.	.	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	17.235	0.86880	970	0.06235	SET domain|SET domain|SET domain;SET domain|SET domain|SET domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1971.44	39	chr2	88087998	.	G	A	1971.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.05;DP=443;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-0.204;SOR=0.66	GT:AD:DP:GQ:PL	0/1:68,80:148:99:1982,0,1574	6	0	1	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I,TEKT4:NM_144705:exon6:c.C1126A:p.L376I	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	2800.15	163	chr2	94876587	.	C	A	2800.15	.	AC=6;AF=0.429;AN=14;BaseQRankSum=1.58;DP=1332;ExcessHet=8.2628;FS=9.57;MLEAC=6;MLEAF=0.429;MQ=57.92;MQRankSum=-15.02;QD=2.14;ReadPosRankSum=-2.425;SOR=1.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:259,34:293:99:0|1:94876587_C_A:648,0,10649:94876587	1	0	6	0
chr2	94876599	94876599	C	T	exonic	TEKT4	.	stopgain	TEKT4:NM_001286559:exon6:c.C592T:p.R198X,TEKT4:NM_144705:exon6:c.C1138T:p.R380X	.	433	945	144	0	0	144	0.0707965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	1.007e-05	0	0	0	0	0	0	7.452e-05	1.29e-05	2	154602	rs545808608	1.37e-05	1.573e-05	1.227e-05	1.515e-05	0.0002	8.95e-06	7.27e-06	1.586e-05	9.32e-06	2.988e-05	2.241e-05	0	0	0	0.0002	8.097e-06	6.627e-05	4.654e-05	1.971e-05	1.969e-05	0	4.03e-05	0.0002	5.24e-06	2.45e-06	.	.	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.450852	0.12509	N	0.736301	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.036	0.01068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471834	0.93405	D	0.439981	0.93322	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.228656	0.96291	35	0.97017541695677512	0.32010	0.24513	0.22417	N	AEFDGBI	0.102425	0.20547	N	0.0223710035112601	0.42872	2.591521	-0.371233761802137	0.25859	1.424696	0.00857241372916873	0.11701	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	-4.85	0.02911	0.076000	0.14570	1.506000	0.26990	0.302000	0.18967	0.898000	0.31380	0.817000	0.27092	0.256000	0.23417	0.7115:0.2885:0.0:0.0	8.126	0.30157	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	595.24	167	chr2	94876599	.	C	T	595.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.64;DP=1477;ExcessHet=0.3476;FS=6.91;MLEAC=2;MLEAF=0.143;MQ=56.66;MQRankSum=-13.35;QD=0.98;ReadPosRankSum=-2.5;SOR=1.337	GT:AD:DP:GQ:PL	0/1:289,40:329:99:214,0,11895	5	0	2	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G,TEKT4:NM_144705:exon6:c.C1157G:p.A386G	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	11628.6	212	chr2	94876618	.	C	G	11628.6	.	AC=6;AF=0.429;AN=14;BaseQRankSum=1.18;DP=1811;ExcessHet=8.2628;FS=2.242;MLEAC=6;MLEAF=0.429;MQ=56.71;MQRankSum=-17.41;QD=6.52;ReadPosRankSum=-2.766;SOR=0.944	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:310,76:386:99:0|1:94876587_C_A:2258,0,12788:94876587	1	0	6	0
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C,TEKT4:NM_144705:exon6:c.C1171T:p.R391C	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.035354	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.5	15709.3	250	chr2	94876632	.	C	T	15709.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.741;DP=2072;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.5;MQ=56.16;MQRankSum=-18.49;QD=7.88;ReadPosRankSum=-1.33;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:327,96:423:99:0|1:94876587_C_A:3006,0,13440:94876587	0	0	6	1
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V,TEKT4:NM_144705:exon6:c.A1210G:p.I404V	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	19027.1	303	chr2	94876671	.	A	G	19027.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-6.487;DP=2361;ExcessHet=14.2834;FS=1.276;MLEAC=7;MLEAF=0.5;MQ=55.94;MQRankSum=-19.83;QD=8.13;ReadPosRankSum=3.99;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:373,110:483:99:.:.:3434,0,15178:.	0	0	7	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T,TEKT4:NM_144705:exon6:c.G1213A:p.A405T	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.025253	0.002717	0.011696	0.000000	0.000000	0.021341	0.018939	0.5	19917.1	303	chr2	94876674	.	G	A	19917.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-6.474;DP=2389;ExcessHet=14.2834;FS=1.269;MLEAC=7;MLEAF=0.5;MQ=55.95;MQRankSum=-19.98;QD=8.45;ReadPosRankSum=4.2;SOR=0.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:362,124:486:99:.:.:4055,0,14677:.	0	0	7	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C,TEKT4:NM_144705:exon6:c.C1270T:p.R424C	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.045317	0.136364	0.005435	0.035088	0.000000	0.043103	0.076220	0.030303	0.5	9635.83	294	chr2	94876731	.	C	T	9635.83	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.43;DP=2227;ExcessHet=14.2834;FS=4.237;MLEAC=7;MLEAF=0.5;MQ=56.87;MQRankSum=-19.16;QD=4.43;ReadPosRankSum=-0.606;SOR=1.099	GT:AD:DP:GQ:PL	0/1:348,88:436:99:2038,0,8827	0	0	7	0
chr2	94876737	94876737	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C730A:p.P244T,TEKT4:NM_144705:exon6:c.C1276A:p.P426T	.	420	623	478	1	0	480	0.2781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.00856323149497	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	4.16	0.02791	T	-6.15	0.90178	D	0.449	0.48689	-1.1193	0.02376	T	0.028	0.11926	T	10	0.86077964	0.85296	D	0.008563	0.22631	T	0.305	0.62620	0.82	0.93328	0.439763647824	0.43599	0.7402352279972402	0.73968	0.238822044954	0.26437	0.431803226471	0.29455	T	0.211342	0.57208	T	-0.00288391	0.51258	T	-0.241919	0.50610	T	0.997360169887543	0.91383	D	0.868613	0.57103	D	0.468639	0.65206	0.43668678	0.67113	0.468639	0.65207	0.43668678	0.67113	-9.492	0.70809	D	.	.	0.247	0.48188	B	.	.	3.384766	0.46838	22.4	0.99756532367682871	0.84694	0.76429	0.37483	D	AEFDGBI	0.183688	0.31101	N	0.284556175349996	0.55366	3.700636	0.149238450167121	0.47101	2.945506	0.878548229655452	0.25568	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	3.367000	0.52075	5.126000	0.47622	0.302000	0.18967	1.000000	0.71638	1.000000	0.68203	0.409000	0.26983	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	4870.11	291	chr2	94876737	.	C	A	4870.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.517;DP=1831;ExcessHet=4.7409;FS=2.809;MLEAC=5;MLEAF=0.357;MQ=56.76;MQRankSum=-15.54;QD=2.75;ReadPosRankSum=-2.853;SOR=0.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:374,56:430:99:0|1:94876737_C_A:1165,0,15361:94876737	2	0	5	0
chr2	94876740	94876740	A	C	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A733C:p.T245P,TEKT4:NM_144705:exon6:c.A1279C:p.T427P	.	420	617	484	1	0	486	0.282558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00171498663639	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.114	0.36765	T	0.125	0.26866	B	0.085	0.29395	B	0.131368	0.18625	N	0.557409	0.999999	0.08975	N	1.955	0.52871	M	4.2	0.02689	T	-3.07	0.63207	D	0.235	0.26475	-0.9960	0.31028	T	0.012	0.04558	T	10	0.1880475	0.34342	T	0.001715	0.02856	T	0.095	0.27398	0.692	0.82938	0.242825505644	0.23883	0.760572030042999	0.76005	0.0377657102004	0.04010	0.42577329278	0.28630	T	0.133664	0.46448	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.267470479011536	0.23639	T	0.608739	0.23025	T	0.12824208	0.29987	0.113306135	0.27344	0.12824208	0.29987	0.113306135	0.27344	-6.544	0.50625	T	.	.	0.070	0.03552	B	.	.	1.347397	0.17547	13.23	0.9830799806719418	0.40116	0.00645	0.02815	N	AEFDGBI	0.062337	0.11976	N	-0.575656789009934	0.19685	1.032239	-0.641925779952209	0.18420	0.9839579	4.74237286387209E-4	0.07095	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	1.2	0.20181	-0.628000	0.05611	0.633000	0.20247	0.373000	0.20310	0.000000	0.06391	0.002000	0.18203	0.392000	0.26603	0.5413:0.283:0.1757:0.0	2.624	0.04627	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	4868.11	289	chr2	94876740	.	A	C	4868.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.23;DP=1808;ExcessHet=4.7409;FS=2.783;MLEAC=5;MLEAF=0.357;MQ=56.77;MQRankSum=-15.4;QD=2.79;ReadPosRankSum=-3.819;SOR=0.965	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:365,53:418:99:0|1:94876737_C_A:1121,0,15113:94876737	2	0	5	0
chr2	95150037	95150037	C	T	exonic	ZNF514	.	nonsynonymous SNV	ZNF514:NM_001318005:exon5:c.G667A:p.D223N,ZNF514:NM_032788:exon5:c.G448A:p.D150N	.	431	1086	5	0	0	5	0.00229674	.	.	.	2453410	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.046	0.0012703278923	.	.	1.647e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs765126553	8.893e-06	8.893e-06	1.089e-05	6.875e-06	0.0002	4.96e-06	3.82e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	4.496e-06	3.311e-05	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.511	0.07473	T	0.559	0.09144	T	0.0	0.02946	B	0.003	0.08700	B	.	.	.	.	0.999995	0.08975	N	0.75	0.19020	N	3.5	0.05014	T	-0.74	0.20791	N	0.09	0.06854	-0.9614	0.38916	T	0.011	0.04088	T	9	0.048018277	0.04197	T	0.00127	0.01733	T	0.046	0.12618	0.545	0.65873	0.208000267992	0.20380	0.02177175760786996	0.02129	0.0391618071246	0.04173	0.244533360004	0.03214	T	0.025123	0.18850	T	-0.537408	0.00347	T	-0.807072	0.01732	T	0.0225517343402341	0.00971	T	0.174883	0.01686	T	0.01988252	0.00529	0.029019812	0.01196	0.01988252	0.00529	0.029019812	0.01196	-3.21	0.12603	T	.	.	0.095	0.14706	B	.;.	.;.	0.553274	0.09217	6.001	0.52325745692660997	0.04727	0.00069	0.00489	N	AEFBCI	0.035640	0.04621	N	-1.08797316189328	0.06864	0.317186	-1.09437063746344	0.07810	0.3814027	0.0139203205759582	0.12527	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.18	2.3	0.27735	-0.322000	0.08049	-1.095000	0.06346	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.567000	0.30579	0.0:0.7452:0.0:0.2548	5.482	0.16020	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.07143	58.44	34	chr2	95150037	.	C	T	58.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.04;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-0.253;SOR=1.609	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1091	6	0	1	0
chr2	95150133	95150133	C	T	exonic	ZNF514	.	nonsynonymous SNV	ZNF514:NM_001318005:exon5:c.G571A:p.G191S,ZNF514:NM_032788:exon5:c.G352A:p.G118S	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00223007863182	0.0022	0.00119808	0.0029	0.0007	0.0021	0	0.0056	0.0037	0.0044	0.0019	0.0028137	435	154602	rs151077080	0.0031	0.0031	0.0031	0.0031	0.0035	0.0030	0.0030	0.0034	0.0034	0.0004	0.0011	0.0011	0	0.0046	0.0017	0.0035	0.0027	0.0020	0.0023	0.0023	0.0023	0.0024	0.0034	0.0021	0.0020	0.0031	0.0029	0.0006	0	0.0008	0.0023	0	0.0051	0	0.0034	0.0009	0.0029	0.208	0.19782	T	0.451	0.12920	T	0.034	0.20480	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.57	0.04645	T	1.54	0.00702	N	0.048	0.01999	-0.9680	0.37612	T	0.014	0.05465	T	9	0.006148815	0.00138	T	0.00223	0.04233	T	0.012	0.01476	.	.	0.141422826196	0.13715	0.02770498026431738	0.02720	0.0396205225071	0.04231	0.246488302946	0.03407	T	0.013314	0.11540	T	-0.701883	0.00036	T	-0.780029	0.02452	T	0.000867880939040333	0.00008	T	0.339066	0.07293	T	0.018181358	0.00339	0.03133039	0.01706	0.018181358	0.00339	0.03133039	0.01705	-5.765	0.44268	T	.	.	0.084	0.09481	B	.;.	.;.	0.555394	0.09238	6.022	0.63366756943036573	0.07205	0.00097	0.00633	N	AEFBCI	0.043966	0.07015	N	-1.2406463053428	0.04424	0.1996404	-1.3349206712708	0.03986	0.1871118	0.0027188511871545	0.09654	0.732398	0.92422	0	0.659464	0.62310	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	3.18	-0.612	0.11016	-0.682000	0.05286	-0.860000	0.07144	-1.756000	0.00682	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5769:0.0:0.4231	7.430	0.26292	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1169.44	90	chr2	95150133	.	C	T	1169.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.65;DP=271;ExcessHet=0;FS=1.701;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.88;SOR=0.894	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1091	6	0	1	0
chr2	95152724	95152724	C	G	exonic	ZNF514	.	nonsynonymous SNV	ZNF514:NM_001318005:exon4:c.G386C:p.G129A,ZNF514:NM_032788:exon4:c.G167C:p.G56A	.	420	1095	6	1	0	8	0.00363967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.0024547953876	.	0.000798722	0.0006	0	0.0002	0	0	0.0002	0.0033	0.0032	0.0005239	81	154602	rs150402017	0.0003	0.0003	0.0002	0.0004	0.0038	0.0003	0.0003	0.0033	0.0032	0.0002	6.708e-05	0	2.519e-05	0	0.0038	9.712e-05	0.0003	0.0037	0.0003	0.0003	0.0002	0.0003	0.0041	0.0002	0.0002	0.0027	0.0023	7.218e-05	0	0	0	0	0	0.0068	0.0002	0	0.0041	0.011	0.55530	D	0.076	0.42614	T	0.996	0.68779	D	0.992	0.80445	D	.	.	.	.	0.993668	0.23670	N	2.67	0.78151	M	5.48	0.00939	T	-4.25	0.76094	D	0.194	0.21319	-1.0655	0.10432	T	0.014	0.05608	T	9	0.008033723	0.00182	T	0.002455	0.04840	T	0.073	0.21317	.	.	0.529260826313	0.52574	0.0459931756812455	0.04543	0.194429881254	0.21783	0.249985530972	0.03766	T	0.196121	0.55240	T	-0.577589	0.00199	T	-0.604549	0.12431	T	0.152459502279626	0.17298	T	0.0153985	0.00087	T	0.27821246	0.50876	0.24464338	0.49935	0.27821246	0.50876	0.24464338	0.49934	-8.425	0.63931	D	.	.	0.293	0.52459	B	.;.	.;.	1.718054	0.21875	15.39	0.99375901566082558	0.61671	0.34949	0.25188	N	AEFBI	0.067182	0.13194	N	0.149185391558516	0.48774	3.085551	-0.0865050990825504	0.35948	2.085878	0.0298807620608008	0.13911	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.64	2.64	0.30504	0.199000	0.17037	0.337000	0.17343	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.176000	0.21171	0.0:1.0:0.0:0.0	8.852	0.34364	.	.	Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.005435	0.011696	0.000000	0.000000	0.000000	0.007576	0.07143	787.49	35	chr2	95152724	.	C	G	787.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.994;DP=245;ExcessHet=0;FS=0.93;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=1.72;SOR=0.635	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	8284.69	141	chr2	95855390	.	T	C	8284.69	.	AC=6;AF=0.429;AN=14;BaseQRankSum=4.25;DP=1235;ExcessHet=8.2628;FS=29.175;MLEAC=6;MLEAF=0.429;MQ=55.71;MQRankSum=-10.91;QD=6.99;ReadPosRankSum=-6.806;SOR=2.3	GT:AD:DP:GQ:PL	0/1:183,72:255:99:1676,0,4923	1	0	6	0
chr2	95855406	95855406	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H	.	432	686	404	0	0	404	0.227477	.	.	.	679191	not_provided|Peritoneal_Gliomatosis	MedGen:C3661900|MedGen:C2938915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	.	.	.	0.0207	0.0594	0.0264	0.0384	0.0257	0.0114	0.0158	0.0254	0.0092593	241	26028	rs77972623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	1.92	0.00446	N	0.043	0.01577	-0.9422	0.42266	T	0.018	0.07282	T	7	0.0040079057	0.00077	T	.	.	.	0.033	0.08068	.	.	.	.	0.021892873855974753	0.02141	.	.	.	.	.	7.49E-4	0.00347	T	-0.353158	0.04532	T	-0.745064	0.03682	T	0.0110150628429415	0.00159	T	0.357964	0.08163	T	0.04395806	0.06944	0.059117828	0.11040	0.04395806	0.06944	0.059117828	0.11039	-2.163	0.03865	T	.	.	0.356	0.56978	A	.	.	1.452510	0.18737	13.90	0.61318576741591302	0.06679	0.06233	0.12222	N	AEFI	0.034264	0.04212	N	-0.644002368178195	0.17635	0.9091262	-0.743295799460967	0.15887	0.8377953	9.51251238247756E-6	0.01202	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-0.833	0.10237	1.509000	0.35387	1.837000	0.29159	0.284000	0.18682	1.000000	0.71638	0.009000	0.19889	0.063000	0.16184	0.1431:0.5616:0.2953:0.0	6.110	0.19319	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	1192.27	163	chr2	95855406	.	C	G	1192.27	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.639;DP=1446;ExcessHet=2.5225;FS=5.666;MLEAC=4;MLEAF=0.333;MQ=53.72;MQRankSum=-5.908;QD=1.27;ReadPosRankSum=-2.7;SOR=1.302	GT:AD:DP:GQ:PL	0/0:281,30:311:24:0,24,7877	2	0	4	1
chr2	95855532	95855532	T	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5827C:p.I1943L	.	432	980	109	1	0	111	0.0535973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	.	.	.	0.0326	0.0706	0.0182	0.0090	0.0231	0.0311	0.0376	0.0445	7.68e-05	2	26028	rs112858216	6.854e-07	6.156e-06	1.364e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	0	1.313e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.119	0.28026	T	0.037	0.51737	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.54	0.13916	T	-0.89	0.24026	N	0.187	0.20395	-0.9674	0.37733	T	0.013	0.04843	T	7	0.0037541986	0.00070	T	.	.	.	0.005	0.00259	0.247	0.18293	.	.	0.029755129249007927	0.02924	.	.	.	.	.	0.001717	0.01139	T	-0.373008	0.03445	T	-0.773577	0.02653	T	0.00218303418063386	0.00023	T	0.340666	0.07366	T	0.044085097	0.06984	0.046755914	0.06587	0.044085097	0.06984	0.046755914	0.06587	-3.964	0.23263	T	.	.	0.161	0.35498	B	.	.	-0.079786	0.03764	0.785	0.7016925376513895	0.09208	0.01678	0.05360	N	AEFI	0.043258	0.06816	N	-1.01735734093612	0.08243	0.3858304	-1.18373099282675	0.06180	0.2967244	2.11620199757736E-5	0.03498	0.706548	0.73137	0	0.724815	0.89359	0	0.601832	0.32385	0	0.636168	0.56350	0	.	.	2.11	-2.62	0.05793	-0.723000	0.05056	-11.676000	0.00585	0.312000	0.19173	0.000000	0.06391	0.000000	0.08366	0.143000	0.20056	0.1943:0.1355:0.1985:0.4718	0.732	0.00897	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	177.44	210	chr2	95855532	.	T	G	177.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.57;DP=1859;ExcessHet=0;FS=9.454;MLEAC=1;MLEAF=0.071;MQ=45.14;MQRankSum=-4.152;QD=0.47;ReadPosRankSum=-0.182;SOR=1.342	GT:AD:DP:GQ:PL	0/0:451,0:451:99:0,120,1800	6	0	1	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	20786.1	211	chr2	95855549	.	T	C	20786.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.376;DP=1851;ExcessHet=14.2834;FS=10.642;MLEAC=7;MLEAF=0.5;MQ=44.24;MQRankSum=-11.95;QD=11.46;ReadPosRankSum=0.027;SOR=1.217	GT:AD:DP:GQ:PL	0/1:178,272:450:99:6133,0,4216	0	0	7	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	16523.5	188	chr2	95855576	.	A	G	16523.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.709;DP=1533;ExcessHet=8.2628;FS=22.634;MLEAC=6;MLEAF=0.429;MQ=45.71;MQRankSum=-11.53;QD=11.19;ReadPosRankSum=-3.191;SOR=1.751	GT:AD:DP:GQ:PL	0/1:176,155:331:99:4829,0,4414	1	0	6	0
chr2	95855586	95855586	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5773G:p.M1925V	.	447	884	189	2	0	193	0.0984192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000861707961223	.	.	0.0008	0.0001	0.0009	0.0002	0.0002	0.0014	0	0.0001	3.84e-05	1	26028	rs201192250	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.24758	T	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-2.2	0.49519	N	0.124	0.11626	-0.9610	0.38993	T	0.019	0.07800	T	7	0.011997491	0.00260	T	8.62E-4	0.00755	T	0.035	0.08770	.	.	0.0806252709748	0.07271	0.015437605054057783	0.01499	.	.	.	.	.	0.004928	0.04354	T	-0.342361	0.05226	T	-0.729554	0.04347	T	0.0291781713714631	0.01865	T	0.515548	0.16619	T	0.11939599	0.28113	0.13833767	0.33041	0.11939599	0.28113	0.13833767	0.33040	-3.711	0.19481	T	.	.	0.227	0.45954	B	.	.	0.618436	0.09867	6.630	0.39056500088029883	0.02672	0.17497	0.19862	N	AEFI	0.042474	0.06596	N	-0.697976344310311	0.16079	0.8160669	-0.828039099870389	0.13816	0.7187932	1.99158050687805E-5	0.02871	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-2.48	0.06052	0.550000	0.23052	-0.005000	0.13145	0.312000	0.19173	0.994000	0.38300	0.000000	0.08366	0.117000	0.19042	0.3728:0.0:0.19:0.4372	3.442	0.07037	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	3141.13	173	chr2	95855586	.	T	C	3141.13	.	AC=5;AF=0.357;AN=14;BaseQRankSum=1.84;DP=1410;ExcessHet=4.7409;FS=16.271;MLEAC=5;MLEAF=0.357;MQ=46.63;MQRankSum=-6.422;QD=2.72;ReadPosRankSum=-1.556;SOR=1.956	GT:AD:DP:GQ:PL	0/1:229,78:307:99:1607,0,8797	2	0	5	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	12615.5	167	chr2	95855588	.	T	C	12615.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.998;DP=1397;ExcessHet=8.2628;FS=30.104;MLEAC=6;MLEAF=0.429;MQ=46.88;MQRankSum=-10.46;QD=9.41;ReadPosRankSum=-4.329;SOR=2.057	GT:AD:DP:GQ:PL	0/1:182,122:304:99:3916,0,4806	1	0	6	0
chr2	95855996	95855996	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5363G:p.E1788G	.	423	1084	14	1	0	16	0.00732601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	.	.	.	0.0017	0.0001	0.0002	0	0	0.0002	0.0012	0.0107	0.0001921	5	26028	rs2696787	0.0007	0.0007	0.0003	0.0011	0.0110	0.0007	0.0007	0.0104	0.0101	8.965e-05	2.251e-05	0	2.521e-05	0	0.0021	3.78e-05	0.0005	0.0110	0.0004	0.0004	0.0002	0.0006	0.0097	0.0003	0.0003	0.0075	0.0067	0.0002	0	0	0	0	0	0	7.35e-05	0.0005	0.0097	0.112	0.28900	T	0.408	0.14633	T	.	.	.	.	.	.	.	.	.	.	0.995364	0.23308	N	.	.	.	2.09	0.20122	T	-4.86	0.81187	D	0.181	0.19593	-0.9967	0.30838	T	0.058	0.24428	T	7	0.006890267	0.00156	T	.	.	.	0.104	0.29647	0.253	0.19223	0.151104730317	0.14643	0.021129201139812	0.02065	.	.	.	.	.	0.035255	0.23648	T	-0.295655	0.09077	T	-0.662465	0.08101	T	0.080917304577518	0.10104	T	0.457154	0.13128	T	0.08334489	0.19243	0.12760116	0.30714	0.08334489	0.19242	0.12760116	0.30713	-4.849	0.35157	T	.	.	0.048	0.00092	B	.	.	-0.441265	0.02063	0.189	0.69784133236065948	0.09083	0.42437	0.26877	N	AEFI	0.058147	0.10887	N	-1.0493760508998	0.07599	0.3535858	-1.22677742986635	0.05483	0.2613858	2.23717983239869E-5	0.03498	0.562547	0.31514	0	0.653731	0.59785	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	1.87	-2.64	0.05757	1.295000	0.32983	-0.329000	0.09904	-3.365000	0.00092	1.000000	0.71638	0.000000	0.08366	0.001000	0.02609	0.1817:0.1381:0.0:0.6802	4.150	0.09698	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2574.44	35	chr2	95855996	.	T	C	2574.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.613;DP=440;ExcessHet=0;FS=6.564;MLEAC=1;MLEAF=0.071;MQ=56.51;MQRankSum=-3.888;QD=11.05;ReadPosRankSum=0.528;SOR=1.107	GT:AD:DP:GQ:PL	0/1:129,104:233:99:2585,0,3361	6	0	1	0
chr2	95859862	95859862	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4993G:p.R1665G	.	.	.	.	.	.	.	.	0.9655	0.652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	.	.	.	0.0047	0.0104	0.0249	0.0111	0.0019	0.0027	0.0041	0.0044	0.0010608	164	154602	rs750486232	7.16e-07	1.984e-05	0	1.452e-06	2.806e-05	0	0	.	.	0	2.806e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.909	0.50183	P	0.879	0.62418	P	.	.	.	.	0.997846	0.22480	N	.	.	.	1.92	0.23082	T	-6.13	0.90100	D	0.406	0.44666	-1.0103	0.26823	T	0.109	0.39509	T	9	0.0084656775	0.00192	T	.	.	.	0.147	0.38986	.	.	0.424194796918	0.42034	0.04280153187885687	0.04225	.	.	0.63154566288	0.57365	T	0.133946	0.46492	T	-0.0519096	0.44157	T	-0.312341	0.43406	T	0.17266520857811	0.18759	T	0.855914	0.54393	D	0.4027896	0.60925	0.4478981	0.67854	0.4027896	0.60926	0.4478981	0.67854	-8.461	0.64171	D	.	.	0.389	0.58976	A	.	.	4.060624	0.60260	24.2	0.86029540904541768	0.16267	0.48572	0.28237	N	AEFI	0.208225	0.33432	N	-0.241315480207371	0.31452	1.763688	-0.511689011646683	0.21835	1.183132	1.04199970756841E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-1.22	0.09005	1.577000	0.36124	4.129000	0.42019	0.443000	0.21123	1.000000	0.71638	1.000000	0.68203	0.097000	0.18139	0.2258:0.0:0.2311:0.543	3.326	0.06654	256	0.89942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	51.49	35	chr2	95859862	.	T	C	51.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.17;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=56.29;MQRankSum=-0.649;QD=0.99;ReadPosRankSum=0.577;SOR=0.46	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1230	6	0	1	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1478.13	62	chr2	95859895	.	T	C	1478.13	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.162;DP=395;ExcessHet=14.2834;FS=0;MLEAC=7;MLEAF=0.5;MQ=58.04;MQRankSum=-1.11;QD=3.84;ReadPosRankSum=0.74;SOR=0.678	GT:AD:DP:GQ:PL	0/1:61,9:70:99:154,0,2485	0	0	7	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5808.1	86	chr2	95859969	.	A	AT	5808.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.067;DP=584;ExcessHet=14.2834;FS=4.534;MLEAC=7;MLEAF=0.5;MQ=59;MQRankSum=-6.302;QD=10.15;ReadPosRankSum=-0.469;SOR=0.952	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,28:110:99:0|1:95859969_A_AT:909,0,3359:95859969	0	0	7	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	5886.14	87	chr2	95859970	.	G	T	5886.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.463;DP=588;ExcessHet=14.2834;FS=4.534;MLEAC=7;MLEAF=0.5;MQ=58.97;MQRankSum=-6.346;QD=10.22;ReadPosRankSum=-0.399;SOR=0.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,28:111:99:0|1:95859969_A_AT:906,0,3381:95859969	0	0	7	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	5848.14	86	chr2	95859975	.	C	T	5848.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.675;DP=581;ExcessHet=14.2834;FS=3.611;MLEAC=7;MLEAF=0.5;MQ=58.94;MQRankSum=-6.341;QD=10.17;ReadPosRankSum=-0.758;SOR=1.023	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,28:111:99:0|1:95859969_A_AT:906,0,3381:95859969	0	0	7	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	4929.98	80	chr2	95859988	.	T	C	4929.98	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.295;DP=563;ExcessHet=14.2834;FS=2.86;MLEAC=7;MLEAF=0.5;MQ=58.91;MQRankSum=-6.506;QD=9;ReadPosRankSum=-0.371;SOR=0.943	GT:AD:DP:GQ:PL	0/1:81,25:106:99:806,0,1994	0	0	7	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	2934.14	77	chr2	95860002	.	T	A	2934.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=1.03;DP=541;ExcessHet=14.2834;FS=3.176;MLEAC=7;MLEAF=0.5;MQ=58.85;MQRankSum=-5.515;QD=5.56;ReadPosRankSum=-0.983;SOR=1.084	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,22:104:99:0|1:95860002_T_A:677,0,3341:95860002	0	0	7	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	4227.14	75	chr2	95860007	.	A	T	4227.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=1.06;DP=520;ExcessHet=14.2834;FS=3.946;MLEAC=7;MLEAF=0.5;MQ=58.83;MQRankSum=-5.622;QD=8.26;ReadPosRankSum=-0.949;SOR=1.107	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,19:100:99:0|1:95860002_T_A:554,0,3315:95860002	0	0	7	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	3569.07	69	chr2	95860020	.	G	A	3569.07	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.603;DP=481;ExcessHet=14.2834;FS=5.226;MLEAC=6;MLEAF=0.429;MQ=58.68;MQRankSum=-5.391;QD=7.56;ReadPosRankSum=-1.017;SOR=1.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,18:88:99:0|1:95860020_G_A:545,0,2864:95860020	0	0	7	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	3360.29	69	chr2	95860023	.	A	C	3360.29	.	AC=6;AF=0.429;AN=14;BaseQRankSum=1.53;DP=471;ExcessHet=8.2628;FS=5.387;MLEAC=6;MLEAF=0.429;MQ=58.66;MQRankSum=-6.123;QD=7.23;ReadPosRankSum=-1.05;SOR=1.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,14:84:99:0|1:95860020_G_A:377,0,2876:95860020	1	0	6	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	2164.34	48	chr2	95860046	.	C	A	2164.34	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.436;DP=347;ExcessHet=11.5949;FS=9.343;MLEAC=7;MLEAF=0.583;MQ=58.29;MQRankSum=-6.579;QD=6.33;ReadPosRankSum=-0.695;SOR=1.274	GT:AD:DP:GQ:PL	0/1:60,8:68:99:156,0,1687	0	0	6	1
chr2	95891667	95891667	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon67:c.G3950C:p.R1317T	.	.	.	.	.	.	.	.	0	0.096	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00258919318193	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1243857325	1.424e-06	0.0001	2.816e-06	0	2.71e-05	2.4e-07	9e-08	.	.	0	0	0	2.71e-05	0	0	9.245e-07	0	0	0	0.0014	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.509	0.07521	T	0.578	0.08565	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	0.12	0.05604	N	0.068	0.08227	-0.9759	0.35926	T	0.147	0.47255	T	5	0.121881336	0.23111	T	0.002589	0.05235	T	0.084	0.24469	0.235	0.16457	0.393927044628	0.39002	0.0011482701666540294	0.00105	.	.	.	.	.	3.93E-4	0.00124	T	-0.222048	0.17715	T	-0.556733	0.16685	T	0.0224473349077403	0.00959	T	0.29847	0.08399	T	0.06482349	0.13793	0.07730457	0.17207	0.06482349	0.13792	0.07730457	0.17207	-0.2	0.05226	T	.	.	0.083	0.09045	B	.;.	.;.	-1.006024	0.00763	0.024	0.091701984728260702	0.00087	0.00008	0.00134	N	AEFBI	0.017924	0.00505	N	-0.606577077572815	0.18744	0.9757046	-1.03367257472638	0.09050	0.4481512	9.37543306615869E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.550183	0.17644	0	.	.	0.569	-0.448	0.11620	-0.076000	0.11374	-4.777000	0.01991	-2.671000	0.00217	0.154000	0.23713	0.000000	0.08366	0.001000	0.02609	.	.	.	250	0.90192	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	39.8	34	chr2	95891667	.	C	G	39.8	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.68;DP=289;ExcessHet=0.3476;FS=19.704;MLEAC=2;MLEAF=0.167;MQ=58.47;MQRankSum=-5.677;QD=0.34;ReadPosRankSum=-0.972;SOR=4.11	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:67,0:67:0:.:.:0,0,1309:.	4	0	2	1
chr2	95891674	95891674	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon67:c.A3943T:p.T1315S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.00291427588903	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1260919298	2.841e-06	0.0002	1.405e-06	4.309e-06	.	6.7e-07	4.5e-07	.	.	0	0	0	0	8.162e-05	0	0	0	0	6.687e-06	0.0024	0	1.371e-05	1.486e-05	0	0	.	.	0	0	0	0	0	0	0	1.486e-05	0	0	0.492	0.07944	T	0.292	0.20877	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.93	0.75215	T	-0.29	0.11728	N	0.043	0.02861	-1.0260	0.21756	T	0.121	0.42208	T	5	0.04610786	0.03760	T	0.002914	0.06162	T	0.098	0.28162	0.139	0.04277	0.18995819373	0.18626	3.2899001332843344E-4	0.00029	.	.	.	.	.	0.001442	0.00900	T	-0.278035	0.10877	T	-0.637155	0.09879	T	0.0239688079694826	0.01142	T	0.163384	0.02201	T	0.05901639	0.11943	0.0651601	0.13168	0.05901639	0.11943	0.0651601	0.13167	-2.145	0.24445	T	.	.	0.143	0.31355	B	.;.	.;.	-1.129647	0.00606	0.016	0.031514088493064071	0.00000	0.00007	0.00120	N	AEFBI	0.015590	0.00305	N	-1.46910891231834	0.02071	0.09107147	-1.69214697447218	0.01172	0.05275655	6.86907755470711E-5	0.04366	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.550183	0.17644	0	.	.	0.569	-1.14	0.09241	-0.118000	0.10665	-0.182000	0.11122	-0.854000	0.02687	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	250	0.90192	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	61.82	36	chr2	95891674	.	T	A	61.82	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.15;DP=298;ExcessHet=0.3476;FS=13.305;MLEAC=2;MLEAF=0.167;MQ=57.92;MQRankSum=-5.851;QD=0.52;ReadPosRankSum=-0.573;SOR=2.772	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:68,0:68:0:.:.:0,0,1264:.	4	0	2	1
chr2	95921651	95921651	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon35:c.C2276T:p.S759L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00300169495012	.	.	0.0002	0.0014	0.0001	0	0	7.82e-05	0	0	0.0001164	18	154602	rs753596988	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	0.0004	9.018e-05	0	0	0	0	0.0002	0.0003	5.837e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	0	6.595e-05	0	0	0	0	0.0002	0	0.0004	0.135	0.47320	T	0.135	0.34124	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.06	0.79072	T	-0.63	0.18459	N	0.11	0.11769	-0.9879	0.33126	T	0.170	0.51133	T	6	0.018464893	0.00402	T	0.003002	0.06427	T	0.093	0.26882	0.324	0.30549	0.394990421082	0.39112	0.009643703953275651	0.00926	.	.	.	.	.	0.001007	0.00540	T	-0.154204	0.27656	T	-0.45928	0.26679	T	0.00327894109266087	0.00035	T	0.681532	0.29028	T	0.025515085	0.01497	0.034791928	0.02610	0.025515085	0.01497	0.034791928	0.02610	-4.77	0.34240	T	.	.	0.128	0.27433	B	.;.	.;.	0.126819	0.05232	1.738	0.58688537058506107	0.06050	0.00387	0.01950	N	AEFBI	0.037387	0.05132	N	-1.22058565181519	0.04702	0.2127813	-1.44179414239097	0.02845	0.131642	5.14040447807545E-4	0.07201	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.620204	0.46100	0	.	.	0.985	-1.3	0.08777	0.293000	0.18785	-0.597000	0.08290	-1.743000	0.00699	0.007000	0.17678	0.000000	0.08366	0.000000	0.00833	0.4043:0.0:0.5957:0.0	4.886	0.13061	252	0.90114	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	521.46	32	chr2	95921651	.	G	A	521.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.724;DP=206;ExcessHet=0;FS=1.039;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=0.693;SOR=0.507	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,934	6	0	1	0
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	5378.45	93	chr2	95927222	.	G	GAT	5378.45	.	AC=6;AF=0.429;AN=14;BaseQRankSum=3.55;DP=740;ExcessHet=8.2628;FS=47.786;MLEAC=6;MLEAF=0.429;MQ=54.26;MQRankSum=-8.987;QD=7.46;ReadPosRankSum=-3.489;SOR=3.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,31:151:99:0|1:95927222_G_GAT:940,0,4945:95927222	1	0	6	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7647.22	111	chr2	95927226	.	GTT	G	7647.22	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.98;DP=834;ExcessHet=11.5949;FS=15.377;MLEAC=6;MLEAF=0.5;MQ=54.17;MQRankSum=-8.81;QD=9.31;ReadPosRankSum=-4.258;SOR=1.825	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,42:169:99:0|1:95927222_G_GAT:1381,0,5206:95927222	0	0	6	1
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	9881.26	117	chr2	95927234	.	T	C	9881.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.882;DP=933;ExcessHet=11.5949;FS=9.538;MLEAC=6;MLEAF=0.5;MQ=53.98;MQRankSum=-10.25;QD=10.79;ReadPosRankSum=-4.892;SOR=1.331	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,54:194:99:0|1:95927222_G_GAT:1846,0,5716:95927222	0	0	6	1
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	17795.3	150	chr2	95927252	.	A	G	17795.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.09;DP=1238;ExcessHet=8.2628;FS=0.542;MLEAC=6;MLEAF=0.5;MQ=53.07;MQRankSum=-13.03;QD=14.62;ReadPosRankSum=-4.252;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,102:268:99:0|1:95927222_G_GAT:3783,0,6663:95927222	0	0	6	1
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	24657.3	182	chr2	95927268	.	C	A	24657.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.823;DP=1504;ExcessHet=8.2628;FS=3.23;MLEAC=6;MLEAF=0.5;MQ=52.22;MQRankSum=-14.46;QD=16.66;ReadPosRankSum=-2.383;SOR=0.5	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:187,142:329:99:0|1:95927222_G_GAT:5298,0,7380:95927222	0	0	6	1
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	25059.3	185	chr2	95927277	.	C	T	25059.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-4.406;DP=1568;ExcessHet=8.2628;FS=3.217;MLEAC=6;MLEAF=0.5;MQ=52.16;MQRankSum=-14.78;QD=16.42;ReadPosRankSum=-0.832;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:197,148:345:99:0|1:95927222_G_GAT:5399,0,7561:95927222	0	0	6	1
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	9403.14	109	chr2	95929092	.	T	C	9403.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=2.46;DP=834;ExcessHet=14.2834;FS=2.733;MLEAC=7;MLEAF=0.5;MQ=47.24;MQRankSum=-7.649;QD=11.37;ReadPosRankSum=-2.432;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,61:196:99:0|1:95929092_T_C:1991,0,5423:95929092	0	0	7	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	10904.1	122	chr2	95929110	.	A	G	10904.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=7.44;DP=933;ExcessHet=14.2834;FS=9.276;MLEAC=7;MLEAF=0.5;MQ=45.86;MQRankSum=-7.496;QD=11.78;ReadPosRankSum=-1.573;SOR=1.331	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,68:216:99:0|1:95929092_T_C:2410,0,6010:95929092	0	0	7	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	14878.1	133	chr2	95929126	.	C	A	14878.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=2.97;DP=1096;ExcessHet=14.2834;FS=16.644;MLEAC=7;MLEAF=0.5;MQ=44.44;MQRankSum=-8.355;QD=13.59;ReadPosRankSum=-0.916;SOR=1.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,92:253:99:0|1:95929092_T_C:3378,0,6483:95929092	0	0	7	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	16069.1	136	chr2	95929130	.	G	C	16069.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=5.74;DP=1133;ExcessHet=14.2834;FS=18.396;MLEAC=7;MLEAF=0.5;MQ=43.98;MQRankSum=-8.318;QD=14.18;ReadPosRankSum=-1.245;SOR=1.786	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,96:262:99:0|1:95929092_T_C:3531,0,6681:95929092	0	0	7	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	16878.1	136	chr2	95929135	.	C	T	16878.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=4.46;DP=1199;ExcessHet=14.2834;FS=19.883;MLEAC=7;MLEAF=0.5;MQ=43.39;MQRankSum=-8.146;QD=14.46;ReadPosRankSum=-1.214;SOR=1.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,98:265:99:0|1:95929092_T_C:3599,0,6694:95929092	0	0	7	0
chr2	95938988	95938988	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon21:c.C1559T:p.T520M	.	433	1064	25	0	0	25	0.0116117	0.0019	0.058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00358383873767	.	.	0.0008	0.0020	0	0	0	0.0006	0	0.0010	3.84e-05	1	26028	rs773518718	3.368e-05	0.0023	3.762e-05	2.964e-05	0.0002	2.581e-05	2.309e-05	2.745e-05	2.411e-05	6.446e-05	0	0	0	2.868e-05	0.0002	3.668e-05	1.75e-05	2.558e-05	0.0002	0.0081	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	0.0002	0	0.0001	0	0	0	0	0.0003	0	0.0002	0.004	0.65419	D	0.024	0.56640	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.28	0.17271	T	-0.53	0.16393	N	0.281	0.31814	-0.9892	0.32803	T	0.020	0.08453	T	7	0.03198269	0.01341	T	0.003584	0.08185	T	0.149	0.39377	.	.	0.178374595973	0.17440	0.014443033403048736	0.01401	.	.	.	.	.	0.002069	0.01480	T	-0.147704	0.28672	T	-0.449943	0.27704	T	0.0906841967604471	0.11299	T	0.333467	0.07063	T	0.033097263	0.03462	0.039411556	0.04027	0.033097263	0.03461	0.039411556	0.04026	-6.118	0.47256	T	.	.	0.178	0.38836	B	.	.	2.441070	0.31414	18.74	0.98811733487386921	0.46623	0.00864	0.03432	N	AEFI	0.028764	0.02595	N	-0.77103426884397	0.14069	0.6978785	-1.00239556869833	0.09733	0.4859265	1.40968710131015E-5	0.02871	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	1.23	-1.66	0.07824	0.174000	0.16557	-1.592000	0.05103	-0.567000	0.04800	0.549000	0.27338	0.000000	0.08366	0.356000	0.25796	0.2835:0.0:0.3063:0.4102	2.081	0.03415	252	0.90114	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	87.26	69	chr2	95938988	.	G	A	87.26	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.34;DP=607;ExcessHet=0;FS=11.869;MLEAC=1;MLEAF=0.083;MQ=40.07;MQRankSum=-0.814;QD=0.78;ReadPosRankSum=-0.227;SOR=3.034	GT:AD:DP:GQ:PL	0/0:124,0:124:99:0,120,1800	5	0	1	1
chr2	96651892	96651892	G	A	exonic	FER1L5	.	nonsynonymous SNV	FER1L5:NM_001293083:exon7:c.G505A:p.V169I	.	428	1073	21	0	0	21	0.00969082	0.9833	0.766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	.	.	0.00139776	0.0016	0	0	0	0	0.0003	0	0.0042	0.0003558	55	154602	rs551147801	0.0006	0.0006	0.0004	0.0008	0.0051	0.0006	0.0006	0.0047	0.0046	3.165e-05	0.0008	0.0010	0	0.0001	0.0040	0.0003	0.0010	0.0051	0.0005	0.0005	0.0004	0.0006	0.0041	0.0004	0.0004	0.0027	0.0023	2.407e-05	0	0.0012	0.0017	0	0	0.0034	0.0003	0.0014	0.0041	.	.	.	1.0	0.01155	T	0.905	0.49920	P	0.805	0.58399	P	0.001259	0.39669	N	0.000000	.	.	.	1.315	0.32790	L	.	.	.	.	.	.	0.208	0.23125	-0.6983	0.60519	T	0.252	0.62154	T	7	0.008345634	0.00189	T	.	.	.	.	.	0.42	0.46200	0.0762999501168	0.06990	0.1784777294692949	0.17766	.	.	0.360017836094	0.19389	T	0.023363	0.17850	T	-0.2825	0.10405	T	-0.178576	0.56655	T	0.232966984635278	0.22092	T	0.682032	0.29555	T	0.08571195	0.19893	0.26364842	0.52174	0.08571195	0.19892	0.26364842	0.52173	-3.351	0.14404	T	.	.	0.129	0.32922	B	.;.;.	.;.;.	3.357735	0.46337	22.3	0.8940959130885785	0.18772	0.85141	0.44249	D	AEFBI	.	.	.	0.514035707327495	0.67921	5.14641	0.55623933869242	0.71832	5.715402	0.760659097695506	0.23504	0.162113	0.03585	0	0.060609	0.00678	0	0.175069	0.04249	0	0.075334	0.01956	0	0.976725	0.80079	5.69	5.69	0.88346	2.895000	0.48347	9.871000	0.82128	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.864000	0.41028	0.0:0.0:1.0:0.0	16.729	0.85290	202	0.92131	C2 domain|C2 domain;C2 domain|C2 domain|Ferlin, second C2 domain;C2 domain|C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003641	0.000000	0.000000	0.004310	0.000000	0.000000	0.012048	0.000000	0.07143	1364.46	109	chr2	96651892	.	G	A	1364.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.41;DP=286;ExcessHet=0;FS=1.534;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=0.067;SOR=0.797	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr2	96691324	96691324	G	C	exonic	FER1L5	.	nonsynonymous SNV	FER1L5:NM_001293083:exon28:c.G2878C:p.E960Q	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259640966	7.153e-07	6.84e-07	1.411e-06	0	9.271e-07	0	0	.	.	0	0	0	0	0	0	9.271e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.39954	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356	0.39760	-0.6156	0.64172	T	0.270	0.64162	T	7	0.22345787	0.39125	T	.	.	.	.	.	0.223	0.14665	0.16115917748	0.15686	0.6087044009719816	0.60802	.	.	0.370053350925	0.20840	T	.	.	.	-0.042991	0.45502	T	-0.29953	0.44774	T	0.491505324840546	0.32319	T	0.80282	0.45805	T	0.17648536	0.38564	0.3080051	0.56821	0.17648536	0.38563	0.3080051	0.56820	-4.361	0.29023	T	.	.	0.126	0.32922	B	.;.;.;.	.;.;.;.	2.284317	0.29215	18.05	0.68570335783956726	0.08699	0.87765	0.47417	D	AEFDBI	.	.	.	0.317788806007781	0.57060	3.872192	0.25603670194261	0.52993	3.47064	0.992810619570275	0.32978	0.080754	0.02126	0	0.07657	0.01911	0	0.072005	0.02045	0	0.062806	0.01542	0	0.944902	0.60838	4.43	4.43	0.52967	2.426000	0.44388	9.728000	0.81390	0.672000	0.70159	0.471000	0.26730	1.000000	0.68203	0.347000	0.25591	0.0:0.0:1.0:0.0	14.345	0.66218	189	0.92630	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	435.44	43	chr2	96691324	.	G	C	435.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.84;DP=217;ExcessHet=0;FS=1.194;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=1.05;SOR=0.857	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,907	6	0	1	0
chr2	96699651	96699651	T	C	exonic	FER1L5	.	nonsynonymous SNV	FER1L5:NM_001293083:exon43:c.T4712C:p.V1571A	.	420	1096	6	0	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.313e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.60972	D	.	.	.	.	.	.	0.327729	0.14166	U	0.571232	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.37197	-0.3890	0.72374	T	0.255	0.62507	T	8	0.27155256	0.44694	T	.	.	.	.	.	0.547	0.66156	0.115124310173	0.11017	0.7516688496969532	0.75113	.	.	0.424351990223	0.28435	T	.	.	.	0.026083	0.55199	T	-0.20031	0.54618	T	0.395594328641891	0.28776	T	0.963304	0.86380	D	0.073254876	0.16357	0.21336676	0.45844	0.073254876	0.16356	0.21336676	0.45843	-6.132	0.47371	T	.	.	0.265	0.56091	B	.;.;.;.	.;.;.;.	3.103382	0.41828	21.4	0.80896415409605515	0.13421	0.35694	0.25361	N	AEFBI	.	.	.	0.0956850067433394	0.46261	2.869229	0.0287700086971241	0.41058	2.460319	0.998427502813618	0.36942	0.078448	0.01964	0	0.060609	0.00678	0	0.083675	0.02720	0	0.050693	0.00103	0	0.811976	0.48258	5.29	4.14	0.47821	0.861000	0.27540	5.109000	0.47498	0.665000	0.62972	0.026000	0.20160	0.999000	0.35428	0.994000	0.71098	0.0:0.1678:0.0:0.8322	7.973	0.29302	187	0.92701	C2 domain|C2 domain|C2 domain|Ferlin, fifth C2 domain;C2 domain|C2 domain|C2 domain|Ferlin, fifth C2 domain;C2 domain|C2 domain|C2 domain|Ferlin, fifth C2 domain;C2 domain|C2 domain|C2 domain|Ferlin, fifth C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	67.44	35	chr2	96699651	.	T	C	67.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.792;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=0.697;SOR=0.368	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr2	96840278	96840278	A	-	exonic	ANKRD23	.	frameshift deletion	ANKRD23:NM_144994:exon6:c.578delT:p.L193Pfs*44	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	43.4	38	chr2	96840277	.	GA	G	43.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.282;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.82;ReadPosRankSum=1.38;SOR=0.495	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr2	96877946	96877946	G	T	exonic	FAM178B	.	nonsynonymous SNV	FAM178B:NM_001172667:exon4:c.C328A:p.L110M,FAM178B:NM_016490:exon4:c.C271A:p.L91M,FAM178B:NM_001122646:exon16:c.C1951A:p.L651M	.	431	1087	4	0	0	4	0.00183655	.	.	.	2373938	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.290	0.120034292365	.	0.000199681	0.0001	0	0	0	0	3.059e-05	0	0.0007	9.06e-05	14	154602	rs552281954	5.474e-05	5.472e-05	2.995e-05	7.977e-05	0.0009	4.478e-05	4.148e-05	0.0006	0.0005	0	0	0	0	0	0.0009	7.194e-06	8.28e-05	0.0007	3.281e-05	3.28e-05	5.137e-05	1.342e-05	0.0004	1.26e-05	7.97e-06	7.282e-05	3.026e-05	0	0	0	0	0.0002	0	0	2.939e-05	0	0.0004	0.005	0.65419	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.950386	0.26506	N	.	.	.	-0.09	0.67543	T	-1.87	0.43717	N	0.491	0.52475	-0.4560	0.70201	T	0.461	0.79072	T	9	0.13193017	0.25110	T	0.120034	0.80048	D	0.290	0.60924	.	.	0.507748507896	0.50414	0.33121652795149553	0.33034	0.385509509165	0.39847	0.422740221024	0.28214	T	.	.	.	-0.251698	0.13891	T	-0.21231	0.53473	T	0.398106604814529	0.28871	T	0.687731	0.30552	T	.	.	.	.	.	.	.	.	-6.228	0.48149	T	.	.	0.139	0.34339	B	.;.	.;.	2.895563	0.38363	20.7	0.99563909022103358	0.71953	0.72560	0.35511	D	AEFDBHCIJ	0.441240	0.49947	N	0.324816931444091	0.57425	3.90975	0.268048651721663	0.53683	3.53606	0.999999004128913	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.2	4.33	0.51083	1.463000	0.34887	3.895000	0.40316	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0962:0.0:0.9038:0.0	9.749	0.39633	114	0.95383	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1137.83	36	chr2	96877946	.	G	T	1137.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.783;DP=279;ExcessHet=0;FS=0.766;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.433;SOR=0.794	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,114,1300	6	0	1	0
chr2	97091614	97091614	C	G	exonic	FAHD2B	.	nonsynonymous SNV	FAHD2B:NM_001320849:exon2:c.G93C:p.Q31H,FAHD2B:NM_199336:exon2:c.G93C:p.Q31H,FAHD2B:NM_001320848:exon3:c.G93C:p.Q31H	.	425	1077	18	2	0	22	0.0101103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.00422248211753	0.0004	0.000399361	0.0009	0.0002	0.0003	0	0	0.0008	0	0.0026	0.000705	109	154602	rs149711241	0.0005	0.0005	0.0005	0.0006	0.0099	0.0005	0.0005	0.0078	0.0071	0.0001	0.0004	0	0	0.0001	0.0099	0.0004	0.0007	0.0020	0.0003	0.0003	0.0004	0.0003	0.0019	0.0003	0.0002	0.0010	0.0007	7.225e-05	0	0.0003	0	0	0	0.0136	0.0005	0.0005	0.0019	0.002	0.72154	D	0.006	0.70582	D	1.0	0.90584	D	0.968	0.71741	D	0.000000	0.84330	D	0.000000	0.979018	0.39519	D	3.015	0.86134	M	1.41	0.33412	T	-3.65	0.69950	D	0.389	0.48042	-0.9240	0.44999	T	0.139	0.45791	T	10	0.024113059	0.00652	T	0.004222	0.10184	T	0.165	0.42395	0.478	0.55663	0.483224754729	0.47952	0.44485261178547714	0.44403	2.56847412068	0.98003	0.661788702011	0.61665	T	0.141356	0.47638	T	-0.457888	0.01013	T	-0.436668	0.29181	T	0.201640233397484	0.20506	T	0.879112	0.59504	D	0.5513389	0.70030	0.37306365	0.62502	0.5513389	0.70031	0.37306365	0.62501	-9.871	0.73136	D	.	.	0.576	0.68694	P	.;.	.;.	3.282591	0.44983	22.0	0.99573820096700572	0.72561	0.59287	0.30873	D	AEFI	0.190616	0.31784	N	0.131407600783639	0.47931	3.012138	-0.0761058691466254	0.36381	2.116473	9.10975764646814E-5	0.04910	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	0.596	0.596	0.16678	2.606000	0.45956	2.017000	0.30191	0.181000	0.17804	1.000000	0.71638	1.000000	0.68203	0.561000	0.30436	0.0:0.9999:0.0:1.0E-4	6.990	0.23927	212	0.91760	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.010101	0.009511	0.005848	0.000000	0.008621	0.006098	0.000000	0.07143	963.45	58	chr2	97091614	.	C	G	963.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.779;DP=377;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=52.98;MQRankSum=0.31;QD=12.35;ReadPosRankSum=0.948;SOR=0.665	GT:AD:DP:GQ:PL	0/0:123,0:123:99:0,120,1800	6	0	1	0
chr2	97164310	97164310	C	T	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon19:c.C1457T:p.T486M	.	427	1077	18	0	0	18	0.00828729	0.0014	0.05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0016765343655	.	.	0.0002	0.0007	0	0	0	0.0003	0	0	3.84e-05	1	26028	rs774373371	3.625e-06	0.0004	4.294e-06	2.938e-06	3.81e-05	1.06e-06	7.7e-07	1.012e-05	4.81e-06	0	2.819e-05	0	0	0	0	9.305e-07	0	3.81e-05	5.955e-05	0.0026	5.18e-05	6.765e-05	0.0001	3.097e-05	2.224e-05	6.313e-05	4.319e-05	0.0001	0	0	0	0	0	0	4.449e-05	0	0	0.004	0.65419	D	0.009	0.66756	D	0.987	0.61912	D	0.277	0.40197	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.28	0.17271	T	-0.7	0.19933	N	0.073	0.05670	-1.0167	0.24787	T	0.021	0.08963	T	9	0.07083854	0.10361	T	0.001677	0.02779	T	0.084	0.24469	.	.	0.260249123532	0.25628	.	.	.	.	0.531964659691	0.43311	T	0.005051	0.04483	T	-0.20618	0.19919	T	-0.53394	0.18895	T	0.330452779565258	0.26243	T	0.351165	0.07832	T	0.026622346	0.01743	0.045288295	0.06059	0.026622346	0.01743	0.045288295	0.06059	-5.888	0.45333	T	.	.	0.254	0.48857	B	.;.	.;.	1.356743	0.17649	13.29	0.99389198893739084	0.62247	0.01211	0.04306	N	AEFI	0.021689	0.00994	N	-0.613686789745526	0.18533	0.9629107	-0.785615879548242	0.14847	0.777938	9.09601687179923E-6	0.01202	0.656854	0.48797	0	0.633656	0.55848	0	0.618467	0.43123	0	0.699908	0.69081	0	.	.	0.945	-0.435	0.11667	0.420000	0.20983	-0.520000	0.08695	-0.687000	0.04166	0.700000	0.28626	0.000000	0.08366	0.226000	0.22626	0.5726:0.4274:0.0:0.0	3.693	0.07887	226	0.91233	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	51.45	90	chr2	97164310	.	C	T	51.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.354;DP=675;ExcessHet=0;FS=1.039;MLEAC=1;MLEAF=0.071;MQ=39.63;MQRankSum=-0.687;QD=0.45;ReadPosRankSum=0.466;SOR=0.467	GT:AD:DP:GQ:PL	0/0:126,0:126:99:0,120,1800	6	0	1	0
chr2	97185337	97185337	C	-	exonic	ANKRD36	.	frameshift deletion	ANKRD36:NM_001354587:exon29:c.1961delC:p.S655Qfs*12	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402796432	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1449.44	53	chr2	97185336	.	GC	G	1449.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.298;DP=592;ExcessHet=8.2628;FS=4.126;MLEAC=6;MLEAF=0.429;MQ=47.3;MQRankSum=-4.911;QD=2.72;ReadPosRankSum=-0.416;SOR=0.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,16:116:99:0|1:97185336_GC_G:371,0,4151:97185336	1	0	6	0
chr2	97185340	97185340	C	G	exonic	ANKRD36	.	stopgain	ANKRD36:NM_001354587:exon29:c.C1964G:p.S655X	.	497	736	288	1	0	290	0.164586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961387199	6.861e-07	2.052e-06	1.365e-06	0	2.527e-05	0	0	.	.	0	0	0	2.527e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.289078	0.09729	T	-0.653017	0.08744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	2.985359	0.39833	21.0	0.68029575050880731	0.08533	0.00253	0.01392	N	AEFI	0.017170	0.00433	N	-0.957463532196475	0.09526	0.4512341	-1.36962598911469	0.03580	0.1672776	1.88742451027402E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	1.06	-2.12	0.06766	-0.027000	0.12319	-1.673000	0.04942	-4.347000	0.00032	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3106:0.2305:0.0:0.4589	1.483	0.02294	216	0.91608	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	1427.48	54	chr2	97185340	.	C	G	1427.48	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.163;DP=596;ExcessHet=8.2628;FS=2.936;MLEAC=6;MLEAF=0.429;MQ=47.07;MQRankSum=-4.73;QD=2.65;ReadPosRankSum=0.212;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,16:117:99:0|1:97185336_GC_G:368,0,4193:97185336	1	0	6	0
chr2	97185341	97185341	-	G	exonic	ANKRD36	.	frameshift insertion	ANKRD36:NM_001354587:exon29:c.1965_1966insG:p.K656Efs*5	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297719451	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1421.44	55	chr2	97185341	.	A	AG	1421.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.101;DP=598;ExcessHet=8.2628;FS=2.924;MLEAC=6;MLEAF=0.429;MQ=46.99;MQRankSum=-4.73;QD=2.63;ReadPosRankSum=0.2;SOR=0.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,16:117:99:0|1:97185336_GC_G:368,0,4193:97185336	1	0	6	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1417.44	57	chr2	97185345	.	GTAAT	G	1417.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.295;DP=624;ExcessHet=8.2628;FS=5.664;MLEAC=6;MLEAF=0.429;MQ=46.33;MQRankSum=-4.278;QD=2.5;ReadPosRankSum=0.674;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,18:126:99:0|1:97185336_GC_G:390,0,4436:97185336	1	0	6	0
chr2	97196602	97196602	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon41:c.A2561G:p.Q854R	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.00460899066727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.368	0.16570	T	0.551	0.38139	P	0.458	0.46341	P	.	.	.	.	1	0.08975	N	1.585	0.39878	L	-0.82	0.74053	T	-0.85	0.23156	N	0.104	0.12770	-0.8239	0.53689	T	0.263	0.63394	T	8	0.08240932	0.13598	T	0.004609	0.11409	T	0.200	0.48430	0.083	0.00760	0.17948927462	0.17512	.	.	.	.	0.659515321255	0.61339	T	0.003977	0.03383	T	-0.157261	0.27182	T	-0.463671	0.26200	T	0.249226823449135	0.22838	T	0.468753	0.13831	T	0.15352279	0.34795	0.16706157	0.38561	0.15352279	0.34795	0.16706157	0.38561	-6.658	0.51493	T	.	.	0.174	0.38062	B	.;.	.;.	0.853210	0.12254	8.797	0.48717751916907193	0.04089	0.03692	0.08968	N	AEFBI	0.029950	0.02922	N	-1.12397828342136	0.06219	0.2856846	-1.28719826175297	0.04603	0.2174893	8.31192681089556E-4	0.07887	0.372202	0.05800	0	0.546412	0.12157	0	0.463624	0.06942	0	0.322989	0.05693	1	.	.	0.439	-0.878	0.10079	0.373000	0.20215	-0.423000	0.09272	-0.592000	0.04645	0.453000	0.26589	0.000000	0.08366	0.001000	0.02609	.	.	.	207	0.91931	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	829.44	35	chr2	97196602	.	A	G	829.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.741;DP=339;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.94;MQRankSum=0.794;QD=7.09;ReadPosRankSum=-1.59;SOR=0.751	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	6	0	1	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5	15899.3	101	chr2	97513220	.	G	A	15899.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.012;DP=819;ExcessHet=11.5949;FS=1.796;MLEAC=7;MLEAF=0.583;MQ=37.36;MQRankSum=-4.104;QD=19.48;ReadPosRankSum=0.6;SOR=0.895	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,85:186:99:0|1:97513219_T_C:3265,0,3985:97513219	0	0	6	1
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049467	0.010417	0.061189	0.058140	0.000000	0.104651	0.038462	0.040000	0.5	17092.3	109	chr2	97513227	.	T	C	17092.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.344;DP=900;ExcessHet=11.5949;FS=2.51;MLEAC=7;MLEAF=0.583;MQ=37.92;MQRankSum=-4.452;QD=19.58;ReadPosRankSum=1.08;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,90:197:99:0|1:97513219_T_C:3457,0,4222:97513219	0	0	6	1
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	20767.0	120	chr2	97513244	.	G	T	20767.0	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.977;DP=1023;ExcessHet=8.2628;FS=0.524;MLEAC=6;MLEAF=0.429;MQ=38.49;MQRankSum=-5.106;QD=20.34;ReadPosRankSum=0.451;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,108:235:99:0|1:97513244_G_T:4152,0,4987:97513244	1	0	6	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5	21976.1	130	chr2	97513253	.	A	G	21976.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.633;DP=1084;ExcessHet=14.2834;FS=1.729;MLEAC=7;MLEAF=0.5;MQ=38.62;MQRankSum=-5.367;QD=20.46;ReadPosRankSum=-0.152;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,114:245:99:0|1:97513244_G_T:4392,0,5158:97513244	0	0	7	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5	21979.1	129	chr2	97513254	.	C	T	21979.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.182;DP=1084;ExcessHet=14.2834;FS=1.105;MLEAC=7;MLEAF=0.5;MQ=38.6;MQRankSum=-5.281;QD=20.48;ReadPosRankSum=-0.089;SOR=0.8	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,114:245:99:0|1:97513244_G_T:4392,0,5158:97513244	0	0	7	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5	23134.1	135	chr2	97513268	.	C	T	23134.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.204;DP=1127;ExcessHet=14.2834;FS=1.103;MLEAC=7;MLEAF=0.5;MQ=39;MQRankSum=-5.273;QD=20.6;ReadPosRankSum=-0.689;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,120:256:99:0|1:97513268_C_T:4609,0,5329:97513268	0	0	7	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5	20800.1	137	chr2	97513270	.	A	C	20800.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.107;DP=1138;ExcessHet=14.2834;FS=1.1;MLEAC=7;MLEAF=0.5;MQ=39.03;MQRankSum=-5.362;QD=18.37;ReadPosRankSum=-0.967;SOR=0.801	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:150,106:256:99:.:.:2129,0,5687:.	0	0	7	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5	23472.1	137	chr2	97513271	.	T	C	23472.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.301;DP=1143;ExcessHet=14.2834;FS=1.103;MLEAC=7;MLEAF=0.5;MQ=39.04;MQRankSum=-5.362;QD=20.59;ReadPosRankSum=-0.917;SOR=0.786	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,123:259:99:0|1:97513268_C_T:4711,0,5320:97513268	0	0	7	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5	23449.1	142	chr2	97513281	.	C	T	23449.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.063;DP=1159;ExcessHet=14.2834;FS=1.102;MLEAC=7;MLEAF=0.5;MQ=39.29;MQRankSum=-5.39;QD=20.41;ReadPosRankSum=-0.462;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,121:258:99:0|1:97513268_C_T:4584,0,5327:97513268	0	0	7	0
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.493015	0.474026	0.484848	0.500000	0.500000	0.517241	0.503597	0.495868	0.5	4532.09	85	chr2	97513354	.	T	C	4532.09	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.484;DP=650;ExcessHet=14.2834;FS=0;MLEAC=7;MLEAF=0.5;MQ=40.44;MQRankSum=-2.424;QD=7.23;ReadPosRankSum=0.855;SOR=0.702	GT:AD:DP:GQ:PL	0/1:86,48:134:99:979,0,2095	0	0	7	0
chr2	97536318	97536318	C	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon34:c.G2173C:p.V725L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.45744	T	0.946	0.53363	P	0.919	0.65474	D	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.048	0.03392	.	.	.	.	.	.	.	0.07592192	0.11794	T	.	.	.	.	.	.	.	0.0138822411134	0.00435	0.003926989500660363	0.00367	.	.	0.621563851833	0.55950	T	0.007646	0.07043	T	-0.0958853	0.37105	T	-0.375509	0.36247	T	.	.	.	0.472453	0.14032	T	0.03111366	0.02892	0.055344358	0.09690	0.03111366	0.02892	0.055344358	0.09689	-4.703	0.33441	T	.	.	0.254	0.50147	B	.;.;.	.;.;.	0.023887	0.04450	1.174	0.39754153446237939	0.02763	0.00423	0.02085	N	AEFI	.	.	.	.	.	.	.	.	.	1.94324804426401E-6	0.01202	0.162113	0.03585	0	0.195528	0.04277	0	0.078618	0.02440	0	0.24566	0.04862	0	0.0842941	0.19258	1.66	-1.76	0.07574	-2.053000	0.01488	-10.046000	0.00746	-0.412000	0.05259	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2573:0.3777:0.0:0.365	2.022	0.03298	292	0.88363	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	30.18	17	chr2	97536318	.	C	G	30.18	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.775;DP=109;ExcessHet=0;FS=7.16;MLEAC=1;MLEAF=0.1;MQ=57.46;MQRankSum=-3.349;QD=2.32;ReadPosRankSum=2.04;SOR=2.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1002:.	4	0	1	2
chr2	97859368	97859368	G	A	exonic	TMEM131	.	nonsynonymous SNV	TMEM131:NM_015348:exon5:c.C419T:p.T140M	.	496	1023	2	1	0	4	0.00195122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	.	.	0.00459265	0.0027	0.0001	0.0002	0.0006	0	1.505e-05	0	0.0195	0.0023415	362	154602	rs567668237	0.0011	0.0012	0.0006	0.0016	0.0186	0.0011	0.0011	0.0178	0.0175	3.067e-05	0	0	5.182e-05	0	0.0010	7.223e-06	0.0010	0.0186	0.0007	0.0007	0.0003	0.0011	0.0201	0.0006	0.0005	0.0169	0.0157	9.633e-05	0	0	0	0.0006	0	0	2.941e-05	0	0.0201	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.994	0.82059	D	0.000002	0.62929	D	0.000000	0.999978	0.58761	D	1.445	0.36358	L	1.35	0.34648	T	-2.94	0.73788	D	0.689	0.69474	-0.8114	0.54466	T	0.203	0.55961	T	10	0.00784117	0.00178	T	.	.	.	0.273	0.58883	0.256	0.19689	0.102598925029	0.09809	0.39732465431329594	0.39647	0.777241009746	0.65098	0.684796333313	0.64957	T	0.286933	0.65973	T	-0.221165	0.17834	T	-0.076185	0.65181	T	0.0818065342101719	0.10217	T	0.961704	0.85587	D	0.3491662	0.57002	0.41886434	0.65897	0.3491662	0.57002	0.41886434	0.65898	-7.103	0.54782	T	.	.	0.179	0.39081	B	.;.	.;.	5.442897	0.90959	32	0.99543118212975723	0.70648	0.97717	0.76626	D	AEFBI	0.869928	0.79068	D	0.78969414947784	0.85456	8.581562	0.801450758393439	0.89892	10.167	0.999950665974972	0.48110	0.732398	0.92422	0	0.724815	0.89359	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.79	5.79	0.91751	7.453000	0.79758	11.797000	0.96542	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.025	0.92908	459	0.78817	Transmembrane protein 131-like domain;Transmembrane protein 131-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1305.44	34	chr2	97859368	.	G	A	1305.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.283;DP=291;ExcessHet=0;FS=3.596;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-2.616;SOR=0.409	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1157	6	0	1	0
chr2	98303715	98303715	G	A	exonic	VWA3B	.	nonsynonymous SNV	VWA3B:NM_001345864:exon20:c.G2405A:p.R802Q,VWA3B:NM_144992:exon26:c.G3434A:p.R1145Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.0308205957304	.	.	3.323e-05	0.0002	0	0	0	1.503e-05	0	6.088e-05	2.59e-05	4	154602	rs760289046	2.942e-05	2.941e-05	2.45e-05	3.438e-05	0.0003	2.216e-05	1.97e-05	0.0002	0.0001	0.0003	6.708e-05	0	0	0	0	2.338e-05	3.312e-05	2.319e-05	5.262e-05	5.912e-05	6.428e-05	4.041e-05	0.0002	2.559e-05	1.832e-05	9.581e-05	6.974e-05	0.0002	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.256224	0.15406	U	0.337772	0.749929	0.33917	D	2.515	0.73286	M	1.83	0.24841	T	-2.74	0.58248	D	0.648	0.81559	-0.9769	0.35705	T	0.136	0.45222	T	10	0.6371488	0.68847	D	0.030821	0.53045	D	0.302	0.62290	0.543	0.65589	0.40146981186	0.39757	0.7210935176353107	0.72052	0.489858730717	0.47738	0.527889490128	0.42738	T	0.057875	0.30687	T	-0.203027	0.20368	T	-0.213255	0.53383	T	0.512149897133169	0.33076	D	0.878612	0.59406	D	0.28780034	0.51788	0.23886989	0.49221	0.28780034	0.51787	0.23886989	0.49220	-9.652	0.71802	D	.	.	0.827	0.81170	P	.;.	.;.	5.573835	0.92244	32	0.99948976124410094	0.99931	0.91952	0.54619	D	AEFBI	0.551825	0.56373	D	0.673133019785712	0.77874	6.759186	0.634351102324104	0.77451	6.681775	0.0168610153377784	0.12882	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.47	4.47	0.53770	5.926000	0.69791	11.751000	0.95409	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.0:1.0:0.0	12.821	0.57076	433	0.80627	Domain of unknown function DUF4537;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	928.53	20	chr2	98303715	.	G	A	928.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.492;DP=226;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=0.414;SOR=0.627	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,986	6	0	1	0
chr2	98826982	98826982	A	G	exonic	CRACDL	.	nonsynonymous SNV	CRACDL:NM_207362:exon6:c.T728C:p.L243P	.	.	.	.	.	.	.	.	.	.	.	3419819	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.167	0.0553193652922	.	.	5.085e-05	0	0	0	0	9.12e-05	0	0	3.88e-05	6	154602	rs757529019	2.466e-05	2.463e-05	1.772e-05	3.167e-05	0.0004	1.805e-05	1.602e-05	6.572e-05	2.662e-05	0	0	0.0002	0	0	0.0004	2.07e-05	8.296e-05	0	2.634e-05	2.628e-05	3.861e-05	1.349e-05	4.414e-05	8.16e-06	5.15e-06	1.172e-05	6.25e-06	0	0	0	0.0003	0	0	0	4.414e-05	0	0	0.127	0.27080	T	0.079	0.42086	T	1.0	0.90584	D	0.998	0.88582	D	0.001010	0.40652	N	0.000000	0.998864	0.45582	D	1.83	0.48079	L	0.62	0.53302	T	-3.22	0.64939	D	0.569	0.59223	-0.7237	0.59279	T	0.248	0.61716	T	10	0.4780695	0.60264	T	0.055319	0.66188	D	0.167	0.42761	0.235	0.16457	0.292062946507	0.28806	0.45277032313429405	0.45195	.	.	0.6070779562	0.53903	T	0.10723	0.41925	T	-0.128151	0.31797	T	-0.240945	0.50707	T	0.53087443113327	0.33766	D	0.687031	0.29593	T	0.49988446	0.67089	0.59477824	0.76477	0.49988446	0.67090	0.59477824	0.76478	-9.741	0.72347	D	.	.	0.573	0.67777	P	.	.	4.165239	0.62586	24.5	0.93832137134476834	0.23819	0.84077	0.43162	D	AEFDGBI	0.544415	0.55935	D	0.507387562651183	0.67525	5.093339	0.468956827338745	0.65944	4.888111	0.999999866537943	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.613276	0.41899	0	.	.	5.05	5.05	0.67566	5.259000	0.65304	10.899000	0.84130	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	1.0:0.0:0.0:0.0	12.281	0.54083	550	0.72197	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	728.63	36	chr2	98826982	.	A	G	728.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.25;DP=228;ExcessHet=0;FS=3.043;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-1.482;SOR=1.418	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1210	6	0	1	0
chr2	99108931	99108931	A	C	exonic	TSGA10	.	nonsynonymous SNV	TSGA10:NM_001349012:exon5:c.T112G:p.C38G,TSGA10:NM_001349013:exon6:c.T112G:p.C38G,TSGA10:NM_001349014:exon6:c.T112G:p.C38G,TSGA10:NM_182911:exon6:c.T112G:p.C38G,TSGA10:NM_025244:exon7:c.T112G:p.C38G	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.00419517911797	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1473709701	1.03e-05	1.026e-05	6.834e-06	1.381e-05	8.253e-05	6.19e-06	4.91e-06	3.822e-05	2.698e-05	0	0	0	0	0	0	7.206e-06	0	8.253e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.13088	T	0.076	0.42614	T	0.126	0.26920	B	0.026	0.20792	B	0.000781	0.41888	D	0.107074	0.964326	0.25986	N	1.445	0.36358	L	1.0	0.41392	T	-1.08	0.28084	N	0.385	0.42737	-1.0614	0.11410	T	0.062	0.25923	T	10	0.097149104	0.17476	T	0.004195	0.10089	T	0.123	0.34020	0.213	0.13210	0.043077524339	0.03247	0.1068803035180063	0.10618	0.165905707828	0.18718	0.591838300228	0.51753	T	0.027856	0.20306	T	-0.183783	0.23174	T	-0.398825	0.33520	T	0.178473722320661	0.19138	T	0.868613	0.57764	D	0.157119	0.35421	0.1125338	0.27154	0.157119	0.35420	0.1125338	0.27153	-5.292	0.39864	T	.	.	0.087	0.11172	B	.;.;.;.;.	.;.;.;.;.	3.294753	0.45205	22.1	0.91054654312662109	0.20306	0.75116	0.36765	D	AEFI	0.511519	0.54012	D	-0.253601170803982	0.30959	1.731326	-0.0762612807947926	0.36374	2.116014	1.32392522081119E-4	0.05486	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.586402	0.36253	0	.	.	4.61	4.61	0.56724	1.022000	0.29655	10.780000	0.83739	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8278:0.0:0.0:0.1722	8.549	0.32603	334	0.86273	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	457.83	27	chr2	99108931	.	A	C	457.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.79;DP=203;ExcessHet=0;FS=1.377;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-1.856;SOR=1.127	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1130	6	0	1	0
chr2	99390610	99390610	G	T	exonic	EIF5B	.	stopgain	EIF5B:NM_015904:exon17:c.G2653T:p.G885X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.893	0.89912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619807	0.98345	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	9.546715	0.99056	41	0.99202385138110349	0.55321	0.98845	0.87614	D	AEFBI	0.319839	0.42312	N	1.19783029022575	0.99530	23.50312	1.058050023666	0.99469	22.96623	0.999999999984001	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	7.994000	0.87951	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0738:0.0:0.9262:0.0	13.083	0.58534	441	0.80015	Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	30.44	35	chr2	99390610	.	G	T	30.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.66;DP=304;ExcessHet=0;FS=36.31;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.29;ReadPosRankSum=1.22;SOR=4.8	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1333	6	0	1	0
chr2	99390613	99390613	G	C	exonic	EIF5B	.	nonsynonymous SNV	EIF5B:NM_015904:exon17:c.G2656C:p.D886H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.833	0.106473041921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.435e-06	0.0001	1.367e-06	5.524e-06	2.712e-06	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.712e-06	3.327e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.99	0.78936	D	.	.	.	.	1	0.81001	D	3.52	0.92970	H	-0.75	0.73311	T	-5.7	0.87380	D	0.776	0.77319	0.562	0.91400	D	0.695	0.89488	D	8	0.95167446	0.94507	D	0.106473	0.78210	D	0.833	0.94728	0.879	0.96784	0.736229469925	0.73387	0.7406881022366005	0.74013	2.20945217804	0.95737	0.828492999077	0.86332	D	0.645905	0.89196	D	0.318573	0.84369	D	0.219832	0.84166	D	0.987848723263907	0.78266	D	0.964404	0.87416	D	0.7238549	0.79376	0.82234377	0.89689	0.7238549	0.79378	0.82234377	0.89690	-12.543	0.87395	D	.	.	0.842	0.79349	P	.;.	.;.	5.505696	0.91630	32	0.9968045988301234	0.79241	0.99418	0.95776	D	AEFBI	0.905087	0.85617	D	0.985501792892842	0.95282	13.47336	0.932565831737932	0.96841	15.21986	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	9.802000	0.98244	11.789000	0.96319	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.811	0.96543	441	0.80015	Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	76.22	74	chr2	99390613	.	G	C	76.22	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.658;DP=445;ExcessHet=0;FS=103.167;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=1.4;SOR=6.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,102,1333:.	5	0	1	1
chr2	99582809	99582809	C	T	exonic	AFF3	.	nonsynonymous SNV	AFF3:NM_001025108:exon16:c.G2857A:p.G953R,AFF3:NM_002285:exon16:c.G2782A:p.G928R	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0444721103777	7.7e-05	.	2.471e-05	0	0	0	0	1.499e-05	0	0.0001	1.94e-05	3	154602	rs149407036	3.42e-05	3.42e-05	3.131e-05	3.713e-05	4.472e-05	2.631e-05	2.375e-05	2.999e-05	2.671e-05	0	4.472e-05	0	0	0	0	3.957e-05	3.312e-05	2.319e-05	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.165	0.24564	T	0.129	0.35840	T	0.827	0.56202	P	0.274	0.54472	B	0.081885	0.20840	N	0.488031	0.979796	0.25157	N	0.915	0.23335	L	-0.0	0.62608	T	-2.21	0.49846	N	0.284	0.38232	-0.7690	0.56912	T	0.273	0.64515	T	10	0.18825462	0.34372	T	0.044472	0.61507	D	0.151	0.39764	0.497	0.58678	0.110392049598	0.10638	0.45596808127598437	0.45514	.	.	0.386647999287	0.23196	T	0.061617	0.31702	T	-0.212658	0.19007	T	-0.361717	0.37853	T	0.12622635613532	0.15028	T	0.826217	0.48957	T	0.2070389	0.42898	0.23042654	0.48144	0.2070389	0.42898	0.23042654	0.48143	-3.204	0.12530	T	.	.	0.151	0.33435	B	.;.;.	.;.;.	2.890569	0.38284	20.7	0.99870740765703458	0.94815	0.39575	0.26243	N	AEFDBI	0.167733	0.29443	N	-0.0616002597651824	0.39086	2.299376	-0.109250364584057	0.35017	2.020883	0.351654014533579	0.19689	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.93	5.06	0.67838	1.301000	0.33052	1.131000	0.24326	0.596000	0.33519	0.037000	0.20830	0.005000	0.19230	0.869000	0.41347	0.0:0.9234:0.0:0.0766	12.445	0.54985	300	0.87974	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	465.63	25	chr2	99582809	.	C	T	465.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.35;DP=162;ExcessHet=0;FS=5.409;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.63;ReadPosRankSum=-0.027;SOR=2.368	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1082	6	0	1	0
chr2	102192056	102192056	A	T	exonic	IL1RL2	.	nonsynonymous SNV	IL1RL2:NM_001351446:exon4:c.A425T:p.D142V,IL1RL2:NM_003854:exon4:c.A425T:p.D142V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00625070239419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.105	0.58089	T	0.1	0.25713	B	0.102	0.30857	B	0.439895	0.12640	N	0.762341	1	0.08975	N	1.285	0.32305	L	3.13	0.08014	T	-2.16	0.58085	N	0.485	0.51940	-0.9754	0.36037	T	0.017	0.06950	T	10	0.089834094	0.15596	T	0.006251	0.16406	T	0.043	0.11576	0.441	0.49648	0.343334270461	0.33943	0.6167522348254424	0.61607	0.284164264832	0.30844	0.25341039896	0.04136	T	0.055245	0.29952	T	-0.236891	0.15747	T	-0.578054	0.14719	T	0.163893103599548	0.18155	T	0.70083	0.34942	T	0.31347	0.54084	0.16326493	0.37883	0.31347	0.54084	0.16326493	0.37882	-3.798	0.20775	T	.	.	0.348	0.56462	A	.;.	.;.	-0.065793	0.03851	0.830	0.72967683365947245	0.10159	0.01726	0.05462	N	AEFGBI	0.070041	0.13889	N	-1.2561741370686	0.04219	0.1899821	-1.32424659916947	0.04119	0.1936064	0.999736597963869	0.42341	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.4	-2.75	0.05564	-1.129000	0.03356	-0.740000	0.07623	-2.097000	0.00396	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.406:0.142:0.452:0.0	6.475	0.21228	834	0.38640	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	901.46	36	chr2	102192056	.	A	T	901.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.215;DP=254;ExcessHet=0;FS=3.17;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.432;SOR=0.393	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1177	6	0	1	0
chr2	102235211	102235211	C	T	exonic	IL1RL2	.	nonsynonymous SNV	IL1RL2:NM_001351448:exon8:c.C1186T:p.P396S,IL1RL2:NM_001351447:exon9:c.C1258T:p.P420S,IL1RL2:NM_001351449:exon10:c.C1159T:p.P387S,IL1RL2:NM_001351450:exon10:c.C1159T:p.P387S,IL1RL2:NM_001351446:exon11:c.C1612T:p.P538S,IL1RL2:NM_003854:exon11:c.C1612T:p.P538S	.	426	1071	24	1	0	26	0.0119926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0126193052341	0.0016	0.000998403	0.0020	0.0002	0.0031	0	0.0002	0.0028	0.0044	0.0010	0.0018111	280	154602	rs34599745	0.0016	0.0016	0.0015	0.0017	0.0115	0.0015	0.0015	0.0092	0.0084	0.0004	0.0027	0.0276	0	3.744e-05	0.0115	0.0010	0.0035	0.0010	0.0019	0.0019	0.0020	0.0018	0.0039	0.0017	0.0016	0.0031	0.0028	0.0002	0	0.0039	0.0328	0	0	0.0068	0.0014	0.0033	0.0008	0.423	0.19639	T	0.576	0.08624	T	0.264	0.31602	B	0.171	0.35348	B	0.059926	0.22286	N	0.476664	0.658135	0.33026	D	0.805	0.20218	L	4.26	0.03239	T	-2.74	0.58248	D	0.159	0.16586	-0.9948	0.31352	T	0.013	0.04843	T	10	0.004668802	0.00098	T	0.012619	0.31353	T	0.043	0.11576	.	.	0.230578612272	0.22657	0.14035395634796904	0.13958	0.492520036173	0.47894	0.279347628355	0.07401	T	0.05994	0.31251	T	-0.628486	0.00098	T	-0.681101	0.06916	T	0.0278438053430133	0.01665	T	0.691931	0.30971	T	0.06884452	0.15034	0.1534214	0.36054	0.06884452	0.15033	0.1534214	0.36053	-5.586	0.47059	T	.	.	0.153	0.33891	B	.;.	.;.	1.047562	0.14288	10.86	0.96117114997529507	0.28762	0.56784	0.30206	D	AEFDBHCI	0.110525	0.21914	N	-0.253571691715073	0.30961	1.731402	-0.165919650119598	0.32800	1.869694	0.999999997152961	0.74766	0.55562	0.30534	0	0.68496	0.65989	0	0.615948	0.41167	0	0.665031	0.64506	0	.	.	4.92	4.92	0.64147	0.928000	0.28431	1.102000	0.24078	0.454000	0.21428	0.444000	0.26519	0.037000	0.21475	0.168000	0.20914	0.0:0.7852:0.138:0.0768	10.227	0.42410	819	0.41190	Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.005051	0.009511	0.017544	0.000000	0.008621	0.009146	0.003788	0.07143	991.44	36	chr2	102235211	.	C	T	991.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.398;DP=237;ExcessHet=0;FS=1.098;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.09;ReadPosRankSum=0.388;SOR=0.892	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1024	6	0	1	0
chr2	104856099	104856101	GCC	-	exonic	POU3F3	.	nonframeshift deletion	POU3F3:NM_006236:exon1:c.589_591del:p.A204del	.	490	979	12	5	36	58	0.0111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	.	.	.	.	.	0	0.2143	3.84e-05	1	26028	rs775150602	0.0016	0.0091	0.0013	0.0020	0.0135	0.0016	0.0015	0.0114	0.0107	0.0020	0.0103	0.0045	0.0135	0.0151	0.0010	0.0013	0.0028	0.0011	0.0001	0.0002	0.0001	0.0001	0.0005	7.443e-05	6.095e-05	8.005e-05	5.669e-05	0.0001	0	7.211e-05	0	0.0005	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065217	0.078947	0.038462	0.029412	0.000000	0.500000	0.073529	0.178571	0.08333	50.52	6	chr2	104856098	.	AGCC	A	50.52	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0;DP=43;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.05;ReadPosRankSum=1.01;SOR=0.693	GT:AD:DP:GQ:PL	0/0:10,0:10:27:0,27,405	5	0	1	1
chr2	106413119	106413119	A	G	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon22:c.T5231C:p.L1744P	.	574	909	32	7	0	46	0.0246781	.	.	.	2348696	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.151	0.00426816041692	.	.	.	.	.	.	.	.	.	.	0.0084524	220	26028	rs1200568186	0.0025	0.0050	0.0020	0.0030	0.0187	0.0024	0.0024	0.0153	0.0143	0.0009	0.0024	0.0082	0.0134	0.0008	0.0187	0.0010	0.0033	0.0153	0.0026	0.0052	0.0025	0.0027	0.0136	0.0024	0.0023	0.0108	0.0099	0.0010	0.0022	0.0019	0.0089	0.0122	9.475e-05	0.0326	0.0023	0.0044	0.0136	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.996073	0.43003	D	-2.725	0.00030	N	1.55	0.29866	T	1.13	0.01182	N	0.329	0.36989	-0.9554	0.40024	T	0.010	0.03811	T	9	0.0046307743	0.00097	T	0.004268	0.10341	T	0.151	0.39764	0.437	0.48993	0.0716867268079	0.06686	0.14579829350993453	0.14502	.	.	0.737386345863	0.72588	T	0.003952	0.03363	T	-0.573631	0.00211	T	-0.587363	0.13895	T	0.0109880224044707	0.00158	T	0.217878	0.02755	T	0.09037789	0.21146	0.12882335	0.30987	0.09037789	0.21146	0.12882335	0.30986	-1.181	0.01224	T	.	.	0.067	0.12655	B	.;.	.;.	2.755214	0.36121	20.2	0.058904364898830178	0.00016	0.01272	0.04451	N	AEFI	0.034858	0.04391	N	-1.52334207294121	0.01697	0.07427024	-1.31612094021418	0.04221	0.1986636	3.28424657957892E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.12	1.12	0.19700	5.667000	0.67736	9.785000	0.81617	-0.720000	0.03816	1.000000	0.71638	1.000000	0.68203	0.900000	0.43643	0.2062:0.0:0.7938:0.0	5.721	0.17255	915	0.20917	GRIP domain|GRIP domain|GRIP domain;GRIP domain|GRIP domain|GRIP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	105.63	36	chr2	106413119	.	A	G	105.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.14;DP=214;ExcessHet=0;FS=7.712;MLEAC=1;MLEAF=0.071;MQ=46.25;MQRankSum=-3.817;QD=2.71;ReadPosRankSum=-2.508;SOR=2.494	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1135	6	0	1	0
chr2	107838848	107838848	G	C	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon4:c.G289C:p.V97L	.	448	1072	2	0	0	2	0.000931966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.011685476419	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199682509	0.0002	0.0006	0.0001	0.0003	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	3.247e-05	0	0	0.0007	0	0.0002	7.139e-05	2.914e-05	3.433e-05	0.0006	6.74e-05	0	7.092e-05	5.69e-06	2.13e-06	1.174e-05	4.39e-06	0	0	0	0	0	0	0	7.092e-05	0	0	0.189	0.21224	T	0.0	0.92824	D	0.953	0.54283	P	0.952	0.69102	D	.	.	.	.	0.563799	0.31235	N	1.79	0.46772	L	1.45	0.32482	T	-1.76	0.41618	N	0.703	0.70702	-0.7213	0.59399	T	0.168	0.50826	T	9	0.6842334	0.71464	D	0.011685	0.29546	T	0.173	0.43840	0.324	0.30549	0.139678290688	0.13603	0.036081625107658506	0.03555	.	.	0.866177856922	0.92018	D	0.021817	0.16927	T	-0.133532	0.30926	T	-0.388865	0.34683	T	0.422926038503647	0.29798	T	0.978136	0.92287	D	0.15606402	0.35239	0.17112438	0.39271	0.15606402	0.35239	0.17112438	0.39270	-5.243	0.39376	T	.	.	0.440	0.61715	A	.	.	3.795102	0.54648	23.5	0.986055800489953	0.43572	0.94729	0.62129	D	AEFI	0.577939	0.57934	D	0.309328752180608	0.56626	3.827632	0.171930680793968	0.48315	3.049108	0.0326634779244536	0.14066	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.48	2.48	0.29194	5.808000	0.68834	9.902000	0.82357	0.309000	0.19094	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	11.902	0.51974	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	54.83	10	chr2	107838848	.	G	C	54.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.893;DP=157;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=27.12;MQRankSum=1.04;QD=5.48;ReadPosRankSum=-0.984;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:49,0:49:99:.:.:0,117,1755:.	6	0	1	0
chr2	107880082	107880082	G	A	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon21:c.G5039A:p.S1680N	.	561	948	13	0	0	13	0.00680985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	.	0.0116	0.0101837	0.0063	0.0234	0.0043	0	0	0.0056	0.0044	0.0058	0.0059831	925	154602	rs149740184	0.0039	0.0039	0.0038	0.0039	0.0232	0.0038	0.0037	0.0218	0.0213	0.0232	0.0055	0.0600	0	3.744e-05	0.0123	0.0019	0.0083	0.0043	0.0096	0.0098	0.0096	0.0096	0.0217	0.0092	0.0090	0.0205	0.0201	0.0217	0.0647	0.0071	0.0586	0	0	0.0136	0.0025	0.0057	0.0027	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999978	0.18612	N	-1.795	0.00292	N	1.3	0.35590	T	-0.01	0.07155	N	0.227	0.25499	-1.0051	0.28427	T	0.001	0.00287	T	9	0.0024957657	0.00038	T	.	.	.	0.110	0.31079	.	.	0.0401082797425	0.02173	0.10043015754090968	0.09974	.	.	0.623435258865	0.56214	T	0.004012	0.03423	T	-0.667237	0.00057	T	-0.71496	0.05043	T	0.0042505707572721	0.00045	T	0.434357	0.11884	T	0.0537452	0.10214	0.08793742	0.20471	0.0537452	0.10214	0.08793742	0.20471	-0.855	0.00852	T	.	.	0.130	0.27762	B	.	.	1.413550	0.18294	13.66	0.52742819887358072	0.04805	0.01469	0.04901	N	AEFI	0.029382	0.02763	N	-1.2867235420239	0.03834	0.1720009	-1.13356713013068	0.07066	0.3423706	8.78563616993132E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.854	0.854	0.18144	5.145000	0.64681	9.211000	0.79238	-0.526000	0.04970	1.000000	0.71638	1.000000	0.68203	0.295000	0.24381	0.8127:0.0:0.1873:0.0	5.129	0.14233	960	0.08626	GCC2, Rab binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014371	0.021739	0.024862	0.022124	0.000000	0.008929	0.003731	0.000000	0.07143	1902.53	51	chr2	107880082	.	G	A	1902.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.39;DP=407;ExcessHet=0;FS=1.857;MLEAC=1;MLEAF=0.071;MQ=59.44;MQRankSum=-2.285;QD=10.93;ReadPosRankSum=0.647;SOR=0.842	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	6	0	1	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	6150.48	116	chr2	108259015	.	G	*	6150.48	.	AC=10;AF=0.714;AN=14;DP=903;ExcessHet=0.3476;FS=0;MLEAC=10;MLEAF=0.714;MQ=60;QD=7.4;SOR=0.598	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,83:185:99:1|0:108259008_AAAACTTGGTCAGGTGATGTTAT_A:6396,3157,4117:108259008	0	3	4	0
chr2	108659654	108659654	G	A	exonic	LIMS1	.	nonsynonymous SNV	LIMS1:NM_001193482:exon2:c.G58A:p.G20S,LIMS1:NM_001193483:exon2:c.G82A:p.G28S,LIMS1:NM_001193484:exon2:c.G157A:p.G53S,LIMS1:NM_001193485:exon2:c.G232A:p.G78S,LIMS1:NM_001193488:exon2:c.G46A:p.G16S,LIMS1:NM_001371494:exon2:c.G232A:p.G78S,LIMS1:NM_001371495:exon2:c.G82A:p.G28S,LIMS1:NM_001371496:exon2:c.G109A:p.G37S,LIMS1:NM_001371497:exon2:c.G67A:p.G23S,LIMS1:NM_001371498:exon2:c.G46A:p.G16S,LIMS1:NM_001371499:exon2:c.G232A:p.G78S,LIMS1:NM_001371500:exon2:c.G157A:p.G53S,LIMS1:NM_004987:exon2:c.G46A:p.G16S	.	824	693	5	0	0	5	0.00359454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.591	.	0.0078	0.00219649	0.0075	0.0012	0.0013	0.0001	0.0089	0.0118	0.0088	0.0017	0.000608	94	154602	rs146149508	0.0094	0.0094	0.0095	0.0092	0.0111	0.0092	0.0092	0.0109	0.0109	0.0019	0.0023	0.0029	2.519e-05	0.0097	0.0028	0.0111	0.0070	0.0017	0.0066	0.0067	0.0067	0.0065	0.0102	0.0062	0.0061	0.0096	0.0093	0.0016	0.0252	0.0061	0.0026	0	0.0100	0.0034	0.0102	0.0024	0.0008	0.083	0.33091	T	0.495	0.35970	T	0.377	0.34270	B	0.087	0.29615	B	0.000860	0.41440	D	0.160833	1	0.81001	D	1.425	0.35738	L	-2.23	0.87116	D	-2.24	0.89534	N	0.675	0.69737	-0.0034	0.82186	T	0.494	0.80796	T	10	0.01149556	0.00251	T	.	.	.	0.591	0.83691	.	.	0.893865455903	0.89282	0.1882394925010245	0.18741	.	.	0.620425760746	0.55790	T	0.332631	0.84872	T	-0.147854	0.28649	T	0.0242365	0.71904	D	0.0226388658297327	0.00981	T	0.940206	0.77406	D	0.16084781	0.36053	0.1347942	0.32291	0.16084781	0.36053	0.1347942	0.32290	-9.316	0.72991	D	.	.	0.086	0.29144	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.067175	0.60402	24.2	0.9971118846725171	0.81353	0.97468	0.74944	D	AEFBI	0.848009	0.76485	D	0.201764222649251	0.51285	3.310938	0.290028339911929	0.54956	3.659272	0.999999999999743	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.63	4.63	0.57175	5.726000	0.68163	8.584000	0.77658	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.597000	0.31313	0.0:0.0:1.0:0.0	17.668	0.88113	867	0.32089	.;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;.;.;.;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001086	0.000000	0.000000	0.004132	0.000000	0.000000	0.003247	0.000000	0.07143	403.44	33	chr2	108659654	.	G	A	403.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.26;DP=467;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=43.63;MQRankSum=-1.747;QD=4.53;ReadPosRankSum=-0.239;SOR=0.743	GT:AD:DP:GQ:PL	0/0:149,0:149:99:0,120,1800	6	0	1	0
chr2	108767182	108767182	C	G	exonic	RANBP2	.	nonsynonymous SNV	RANBP2:NM_006267:exon20:c.C6643G:p.P2215A	.	.	.	.	.	.	.	.	.	.	.	365493	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.040	0.00394964116308	.	.	4.202e-05	0.0001	8.688e-05	0	0	4.583e-05	0	0	3.84e-05	1	26028	rs775798185	2.535e-05	4.309e-05	3.136e-05	1.928e-05	8.984e-05	1.87e-05	1.633e-05	2.381e-05	1.431e-05	8.984e-05	6.709e-05	0	0	3.744e-05	0	1.889e-05	4.983e-05	5.803e-05	2.628e-05	2.626e-05	2.569e-05	2.69e-05	4.826e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	2.94e-05	0	0	0.416	0.09958	T	0.459	0.12632	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999965	0.18878	N	0.345	0.11182	N	1.83	0.24841	T	-1.64	0.39314	N	0.09	0.06854	-0.9694	0.37324	T	0.022	0.09147	T	9	0.043234944	0.03151	T	0.00395	0.09337	T	0.040	0.10527	0.196	0.10839	0.193917141947	0.19028	0.2309071010697257	0.23005	0.339808001112	0.35931	0.293872952461	0.09491	T	0.269668	0.64188	T	-0.430367	0.01475	T	-0.619301	0.11239	T	0.0125494816398467	0.00208	T	0.672333	0.28093	T	0.0260625	0.01617	0.03246135	0.01986	0.0260625	0.01617	0.03246135	0.01985	-2.608	0.06564	T	0.051310640584313776	0.00932	0.057	0.00583	B	.	.	0.462742	0.08323	5.073	0.55394647819266307	0.05333	0.16177	0.19267	N	AEFBI	0.053811	0.09728	N	-1.08972081876837	0.06831	0.3156088	-1.00846424590017	0.09598	0.4784522	0.986469892709175	0.31068	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.4	1.21	0.20240	0.986000	0.29190	0.644000	0.20348	0.599000	0.40250	0.383000	0.26031	0.006000	0.19429	0.325000	0.25087	0.1018:0.4937:0.2322:0.1723	3.675	0.07824	846	0.36215	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	349.44	46	chr2	108767182	.	C	G	349.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=10.3;DP=706;ExcessHet=0;FS=41.954;MLEAC=1;MLEAF=0.071;MQ=43.9;MQRankSum=-5.881;QD=0.73;ReadPosRankSum=-1.492;SOR=5.022	GT:AD:DP:GQ:PL	0/1:432,47:479:99:360,0,10958	6	0	1	0
chr2	108930148	108930148	G	A	exonic	EDAR	.	nonsynonymous SNV	EDAR:NM_022336:exon3:c.C146T:p.P49L	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal dominant;Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	283532	Hypohidrotic_Ectodermal_Dysplasia,_Dominant|Hypohidrotic_ectodermal_dysplasia|Ectodermal_dysplasia_10A,_hypohidrotic/hair/nail_type,_autosomal_dominant|Autosomal_recessive_hypohidrotic_ectodermal_dysplasia_syndrome|Inborn_genetic_diseases	MedGen:CN239335|Human_Phenotype_Ontology:HP:0007607,MONDO:MONDO:0016535,MedGen:C5848103,Orphanet:238468|MONDO:MONDO:0007509,MedGen:C3888065,OMIM:129490,Orphanet:1810,Orphanet:238468|MONDO:MONDO:0016619,MedGen:C0406702,Orphanet:248|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.197	0.0442806559777	.	.	0.0001	0	0.0003	0	0	0.0001	0	0.0002	0.00011	17	154602	rs375891208	6.294e-05	6.293e-05	6.263e-05	6.326e-05	0.0005	5.229e-05	4.846e-05	0.0002	0.0002	2.987e-05	0.0004	0	5.039e-05	0	0.0005	5.306e-05	6.624e-05	6.957e-05	7.223e-05	7.218e-05	2.57e-05	0.0001	0.0003	3.969e-05	3.126e-05	8.87e-05	5.281e-05	0	0	0.0003	0	0	0	0	8.821e-05	0	0.0002	0.19	0.21968	T	0.066	0.44501	T	0.133	0.27236	B	0.01	0.14941	B	0.020439	0.27041	N	0.433012	0.783617	0.34298	D	1.245	0.31408	L	-2.59	0.89822	D	-1.79	0.42763	N	0.265	0.30004	-0.6470	0.62844	T	0.347	0.71202	T	10	0.11164886	0.20915	T	0.044281	0.61412	D	0.197	0.47942	0.373	0.38503	0.505701759113	0.50209	0.29420522030721913	0.29333	0.326267788462	0.34779	0.270898252726	0.06258	T	0.37338	0.73739	T	-0.271037	0.11640	T	-0.310946	0.43557	T	0.0330540897336863	0.02480	T	0.759024	0.38847	T	0.02285743	0.00979	0.04673981	0.06580	0.02285743	0.00979	0.04673981	0.06580	-7.782	0.59574	D	0.1498428535926259	0.17555	0.068	0.03887	B	.;.;.	.;.;.	0.913816	0.12881	9.395	0.70123719856671696	0.09193	0.68014	0.33644	D	AEFDBI	0.094344	0.19078	N	-1.16796906238968	0.05490	0.2504367	-1.12475425759214	0.07229	0.3508672	0.117364334611903	0.16799	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.5	-0.795	0.10364	1.885000	0.39312	1.598000	0.27567	-1.009000	0.01772	1.000000	0.71638	1.000000	0.68203	0.125000	0.19370	0.0885:0.0:0.4255:0.4861	10.322	0.42955	830	0.39242	.;Tumor necrosis factor receptor EDAR, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1615.44	33	chr2	108930148	.	G	A	1615.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.14;DP=307;ExcessHet=0;FS=5.584;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-0.675;SOR=1.213	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1280	6	0	1	0
chr2	109545510	109545510	A	G	exonic	SEPTIN10	.	nonsynonymous SNV	SEPTIN10:NM_001321498:exon11:c.T1382C:p.I461T	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.010719078116	.	0.000998403	0.0023	0.0018	0	0	0.0069	0.0010	0	0.0022	0.0005692	88	154602	rs191256927	0.0023	0.0022	0.0022	0.0023	0.0024	0.0022	0.0022	0.0023	0.0023	0.0002	0.0004	0	0	0.0072	0.0009	0.0024	0.0018	0.0022	0.0020	0.0020	0.0019	0.0022	0.0026	0.0019	0.0018	0.0023	0.0022	0.0005	0.0011	0.0006	0.0003	0	0.0090	0	0.0026	0.0009	0.0012	0.174	0.22486	T	0.071	0.45744	T	0.023	0.18885	B	0.013	0.16460	B	.	.	.	.	1	0.81001	D	.	.	.	0.51	0.55439	T	-0.11	0.08653	N	0.342	0.38335	-1.0173	0.24592	T	0.085	0.33157	T	8	0.008586526	0.00194	T	0.010719	0.27578	T	0.066	0.19193	.	.	0.599093849917	0.59590	0.061111871119201994	0.06051	.	.	.	.	.	0.008219	0.07558	T	-0.511602	0.00491	T	-0.511649	0.21146	T	0.00741187315589538	0.00085	T	0.547645	0.18800	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.31857	B	.;.	.;.	1.659140	0.21158	15.08	0.97948159777949984	0.37078	0.92754	0.56464	D	AEFBI	0.340405	0.43723	N	-0.171515849741293	0.34324	1.957785	-0.0542670925128187	0.37305	2.182543	0.772925367443638	0.23703	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.36	4.13	0.47661	1.857000	0.39038	5.470000	0.48695	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.726000	0.34967	0.8432:0.1568:0.0:0.0	10.824	0.45824	774	0.48577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1427.45	33	chr2	109545510	.	A	G	1427.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.286;DP=285;ExcessHet=0;FS=1.666;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=0.423;SOR=0.534	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1165	6	0	1	0
chr2	109760758	109760758	C	A	exonic	RGPD6	.	nonsynonymous SNV	RGPD6:NM_001384363:exon1:c.C8A:p.P3H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	35.84	4	chr2	109760758	.	C	A	35.84	.	AC=2;AF=0.2;AN=10;DP=21;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=57;QD=17.92;SOR=0.693	GT:AD:DP:GQ:PL	0/0:5,0:5:9:0,9,135	4	1	0	2
chr2	110118071	110118071	T	-	exonic	MALL	.	frameshift deletion	MALL:NM_001371559:exon1:c.39delA:p.G14Efs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006147	16	26028	rs796707560	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	0.0033	0.0018	0.0021	0.0056	0.0018	0.0017	0.0040	0.0034	0.0019	0	0.0008	0.0006	0.0056	0.0033	0	0.0019	0.0020	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	45.7	.	chr2	110118070	.	CT	C	45.7	.	AC=2;AF=0.5;AN=4;DP=3;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.5;MQ=60;QD=22.85;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	1	1	0	5
chr2	112389310	112389310	T	G	exonic	RGPD5;RGPD8	.	nonsynonymous SNV	RGPD8:NM_001164463:exon20:c.A3635C:p.Q1212P,RGPD5:NM_005054:exon20:c.A3635C:p.Q1212P	.	125	1382	15	0	0	15	0.00539763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00558220074463	.	0.000599042	0.0026	0.0004	0.0007	0.0004	0.0005	0.0031	0.0049	0.0053	0.0020763	321	154602	rs542922444	0.0022	0.0022	0.0020	0.0023	0.0073	0.0021	0.0021	0.0052	0.0045	0.0002	0.0013	0.0050	0.0003	0.0004	0.0073	0.0021	0.0031	0.0042	0.0014	0.0015	0.0012	0.0016	0.0028	0.0012	0.0012	0.0022	0.0019	0.0005	0	0.0028	0.0038	0	0.0008	0.0070	0.0016	0.0030	0.0020	0.059	0.37966	T	0.284	0.35710	T	0.725	0.42448	P	0.258	0.39350	B	.	.	.	.	0.643084	0.32894	D	1.79	0.46772	L	1.07	0.39781	T	-2.65	0.56787	D	0.241	0.27197	-1.1110	0.02985	T	0.064	0.26527	T	9	0.0065084994	0.00147	T	0.005582	0.14409	T	0.133	0.36157	.	.	0.0551355673512	0.04727	0.07471785973446747	0.07407	.	.	0.61644756794	0.55226	T	0.017442	0.20717	T	-0.444781	0.01212	T	-0.462115	0.26369	T	0.0541511907940701	0.06215	T	0.917708	0.70434	D	0.39951164	0.60698	0.40196952	0.64693	0.39951164	0.60699	0.40196952	0.64693	-6.958	0.53727	T	.	.	0.145	0.31857	B	.;.	.;.	3.734810	0.53444	23.4	0.89138318660129967	0.18543	0.94121	0.60176	D	AEFI	0.837753	0.75535	D	-0.20777763912326	0.32814	1.854826	-0.217939098067901	0.30893	1.743393	3.24920566252506E-4	0.06540	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	2.3	2.3	0.27735	5.643000	0.67569	6.147000	0.54138	0.294000	0.18828	1.000000	0.71638	1.000000	0.68203	0.443000	0.27738	0.0:0.0:0.0:1.0	8.205	0.30609	915	0.20917	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003953	0.000000	0.005602	0.000000	0.000000	0.000000	0.003968	0.008929	0.1429	5283.24	35	chr2	112389310	.	T	G	5283.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.845;DP=703;ExcessHet=0.3476;FS=1.78;MLEAC=2;MLEAF=0.143;MQ=36.03;MQRankSum=0.086;QD=9.86;ReadPosRankSum=-0.138;SOR=0.866	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1305	5	0	2	0
chr2	112520310	112520310	A	G	exonic	TTL	.	nonsynonymous SNV	TTL:NM_001371712:exon6:c.A904G:p.I302V,TTL:NM_153712:exon6:c.A904G:p.I302V	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0152671553945	.	0.000199681	1.647e-05	0	0.0002	0	0	0	0	0	1.94e-05	3	154602	rs527541560	1.368e-05	1.368e-05	1.633e-05	1.1e-05	0.0002	8.94e-06	7.26e-06	2.194e-05	1.43e-05	2.987e-05	6.708e-05	0	0	0	0.0002	8.093e-06	1.656e-05	5.797e-05	1.97e-05	1.969e-05	0	4.029e-05	0.0002	5.24e-06	2.45e-06	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0.0002	0.028	0.46129	D	0.323	0.18959	T	0.62	0.39915	P	0.329	0.42046	B	0.000000	0.84330	D	0.000000	0.999987	0.54805	D	1.34	0.33385	L	3.14	0.07920	T	-0.69	0.19720	N	0.459	0.49602	-1.0926	0.05112	T	0.026	0.11087	T	10	0.16210642	0.30389	T	0.015267	0.35904	T	0.184	0.45763	0.666	0.80401	0.171220215726	0.16700	0.4550718898951812	0.45425	1.58366561958	0.88430	0.533345878124	0.43506	T	0.112211	0.42830	T	-0.315127	0.07304	T	-0.493463	0.23028	T	0.244346889066969	0.22618	T	0.905809	0.66782	D	0.14346841	0.32972	0.14651662	0.34709	0.14346841	0.32971	0.14651662	0.34708	-3.286	0.13558	T	.	.	0.136	0.29642	B	.	.	3.393303	0.46987	22.4	0.99824857869931716	0.90764	0.96707	0.70511	D	AEFDBHCI	0.831303	0.74987	D	0.39374653544759	0.61082	4.304733	0.510257874887616	0.68679	5.253427	0.999999999993501	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.58	5.58	0.84361	8.599000	0.90640	11.046000	0.85237	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.034	0.71390	753	0.51500	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1194.44	107	chr2	112520310	.	A	G	1194.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.32;DP=316;ExcessHet=0;FS=3.556;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.125;SOR=1.061	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr2	113028078	113028078	G	T	exonic	IL36B	.	nonsynonymous SNV	IL36B:NM_173178:exon5:c.C299A:p.A100E	.	422	1086	13	1	0	15	0.00685871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00347087292171	0.0003	0.000998403	0.0010	0	0.0004	0	0	0.0006	0.0033	0.0047	0.0008732	135	154602	rs146284777	0.0006	0.0006	0.0004	0.0007	0.0041	0.0006	0.0005	0.0038	0.0036	0	0.0004	0.0001	7.557e-05	5.616e-05	0.0040	0.0004	0.0008	0.0041	0.0004	0.0004	0.0004	0.0004	0.0029	0.0003	0.0003	0.0018	0.0014	4.814e-05	0	0.0002	0	0	9.416e-05	0.0034	0.0006	0.0009	0.0029	0.018	0.50676	D	1.0	0.01155	T	0.317	0.32920	B	0.124	0.32546	B	.	.	.	.	1	0.08975	N	.	.	.	2.36	0.16089	T	-1.52	0.36980	N	0.131	0.12627	-0.9836	0.34164	T	0.014	0.05705	T	8	0.004972905	0.00107	T	0.003471	0.07847	T	0.025	0.05312	.	.	0.0482279557977	0.04254	.	.	.	.	.	.	.	.	.	.	-0.646904	0.00076	T	-0.702154	0.05708	T	0.0249033464887801	0.01260	T	0.364364	0.08448	T	.	.	.	.	.	.	.	.	-2.224	0.04158	T	.	.	0.422	0.60794	A	.	.	0.544096	0.09125	5.910	0.84033803061393109	0.15058	0.03383	0.08488	N	AEFBI	0.036332	0.04825	N	-0.928002061463337	0.10191	0.4858331	-0.993699196664672	0.09925	0.4967548	0.306290093222256	0.19241	0.446893	0.09132	0	0.563428	0.19063	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	4.95	0.801	0.17822	0.173000	0.16538	-0.057000	0.12472	0.571000	0.28931	0.000000	0.06391	0.000000	0.08366	0.118000	0.19084	0.0954:0.3444:0.3972:0.163	3.293	0.06545	461	0.78683	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	501.63	51	chr2	113028078	.	G	T	501.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.326;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=1.2;SOR=0.807	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,953	6	0	1	0
chr2	113132707	113132707	G	A	exonic	IL1RN	.	nonsynonymous SNV	IL1RN:NM_173842:exon4:c.G370A:p.A124T,IL1RN:NM_000577:exon5:c.G316A:p.A106T,IL1RN:NM_001379360:exon5:c.G268A:p.A90T,IL1RN:NM_173841:exon6:c.G379A:p.A127T,IL1RN:NM_173843:exon6:c.G268A:p.A90T,IL1RN:NM_001318914:exon7:c.G268A:p.A90T	Interleukin 1 receptor antagonist deficiency, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	448759	not_provided|Sterile_multifocal_osteomyelitis_with_periostitis_and_pustulosis|IL1RN-related_disorder|Autoinflammatory_syndrome	MedGen:C3661900|MONDO:MONDO:0013021,MedGen:C2748507,OMIM:612852,Orphanet:210115|.|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.029	.	0.0009	0.00479233	0.0030	0.0011	0.0007	0.0143	0	0.0009	0.0033	0.0094	0.0026326	407	154602	rs45507693	0.0014	0.0014	0.0012	0.0016	0.0123	0.0013	0.0013	0.0100	0.0095	0.0009	0.0007	0.0047	0.0107	0	0.0123	0.0004	0.0030	0.0081	0.0013	0.0013	0.0011	0.0014	0.0106	0.0011	0.0011	0.0084	0.0076	0.0008	0	0.0010	0.0052	0.0106	0	0.0068	0.0005	0.0028	0.0066	1.0	0.00964	T	1.0	0.01155	T	0.002	0.15914	B	0.006	0.18783	B	0.008667	0.30726	N	0.390178	0.999912	0.19599	N	-1.63	0.00401	N	3.02	0.08986	T	2.52	0.00229	N	0.05	0.02179	-0.9366	0.43149	T	0.004	0.01400	T	10	0.008407414	0.00191	T	.	.	.	0.029	0.06676	.	.	0.242825505644	0.23883	0.5592029854060361	0.55847	0.0529077588486	0.05834	0.289524585009	0.08853	T	0.125073	0.45053	T	-0.703256	0.00035	T	-0.769981	0.02768	T	1.88654503290309e-05	0.00000	T	0.157184	0.01392	T	0.075816624	0.17107	0.05437313	0.09340	0.113247275	0.26747	0.058866408	0.10952	-0.639	0.01064	T	0.039757481599584636	0.00332	0.061	0.02733	B	.;.;.;.;.	.;.;.;.;.	-0.273803	0.02735	0.363	0.59931702614615556	0.06341	0.01521	0.05017	N	AEFBI	0.066869	0.13117	N	-1.64792111267281	0.01044	0.04527927	-1.48801726331597	0.02442	0.1123296	0.991469403513662	0.32498	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.8	-0.802	0.10340	-0.103000	0.10909	-0.086000	0.12117	-1.234000	0.01323	0.303000	0.25352	0.000000	0.08366	0.041000	0.14368	0.5105:0.0:0.3735:0.116	6.543	0.21588	591	0.68823	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.010101	0.013587	0.023392	0.000000	0.000000	0.003049	0.007576	0.1429	738.24	34	chr2	113132707	.	G	A	738.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.38;DP=244;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.368;SOR=0.654	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1076	5	0	2	0
chr2	113443854	113443854	G	A	exonic	CBWD2	.	nonsynonymous SNV	CBWD2:NM_001330336:exon3:c.G329A:p.C110Y,CBWD2:NM_001330337:exon3:c.G329A:p.C110Y,CBWD2:NM_172003:exon3:c.G329A:p.C110Y,CBWD2:NM_001330339:exon4:c.G221A:p.C74Y	.	459	1044	19	0	0	19	0.00901756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614	0.103116682965	.	.	0.0008	0	0	0	.	0.0012	0	0	2.59e-05	4	154602	rs200145218	0.0034	0.0046	0.0034	0.0034	0.0179	0.0033	0.0033	0.0149	0.0138	0.0007	0.0032	0.0034	0	0.0076	0.0179	0.0035	0.0032	0.0021	0.0026	0.0038	0.0023	0.0030	0.0043	0.0024	0.0023	0.0034	0.0031	0.0004	0.0236	0.0043	0.0024	0	0.0071	0.0141	0.0029	0.0035	0.0009	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.26	0.98092	H	0.45	0.56446	T	-10.04	0.98852	D	0.902	0.90251	0.289	0.87380	D	0.508	0.81503	D	10	0.24361351	0.41578	T	0.103117	0.77697	D	0.614	0.84932	.	.	0.599654944907	0.59646	0.5078442566509896	0.50706	.	.	0.858874857426	0.90944	D	0.427626	0.77704	T	0.308	0.83601	D	0.204788	0.83387	D	0.890385329723358	0.54119	D	0.999058	0.99576	D	0.9396918	0.95216	0.8888412	0.94186	0.9396918	0.95217	0.8888412	0.94186	-9.262	0.69368	D	.	.	0.984	0.95995	P	.;.;.	.;.;.	5.438484	0.90909	32	0.99599616731712604	0.74101	0.95228	0.63913	D	AEFI	0.775335	0.70878	D	0.879044043988155	0.90695	10.52251	0.681370157874719	0.80966	7.417813	0.721406329907596	0.22936	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	2.85	2.85	0.32333	8.628000	0.90746	8.539000	0.77485	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.458000	0.28074	0.0:0.0:1.0:0.0	11.531	0.49859	763	0.50172	CobW/HypB/UreG, nucleotide-binding domain;CobW/HypB/UreG, nucleotide-binding domain;CobW/HypB/UreG, nucleotide-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	651.92	54	chr2	113443854	.	G	A	651.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.9;DP=265;ExcessHet=0.4139;FS=1.615;MLEAC=2;MLEAF=0.167;MQ=29.84;MQRankSum=1.2;QD=5.57;ReadPosRankSum=1.11;SOR=0.314	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1530	4	0	2	1
chr2	113735790	113735790	T	A	exonic	SLC35F5	.	nonsynonymous SNV	SLC35F5:NM_001330314:exon8:c.A801T:p.L267F,SLC35F5:NM_001330315:exon8:c.A819T:p.L273F,SLC35F5:NM_001330316:exon8:c.A819T:p.L273F,SLC35F5:NM_025181:exon8:c.A819T:p.L273F	.	490	1028	4	0	0	4	0.00194175	.	.	.	696983	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.304	.	0.0029	0.00259585	0.0035	0.0008	0.0041	0.0001	0	0.0045	0.0059	0.0040	0.0035705	552	154602	rs148152519	0.0050	0.0050	0.0051	0.0049	0.0057	0.0049	0.0048	0.0055	0.0055	0.0006	0.0038	0.0017	0	0.0005	0.0019	0.0057	0.0049	0.0044	0.0035	0.0035	0.0038	0.0032	0.0076	0.0033	0.0032	0.0065	0.0060	0.0008	0	0.0076	0.0014	0.0002	0.0002	0.0034	0.0052	0.0043	0.0021	0.004	0.65419	D	0.005	0.72224	D	0.983	0.60381	D	0.935	0.67021	D	0.000007	0.62929	D	0.000000	0.996985	0.43549	D	3.23	0.89537	M	0.5	0.55608	T	-3.18	0.64478	D	0.814	0.80964	-0.5755	0.65795	T	0.248	0.61762	T	10	0.014171064	0.00298	T	.	.	.	0.462	0.75889	0.757	0.88648	0.774597630533	0.77252	0.8210568233368798	0.82062	0.45221040053	0.44952	0.845086038113	0.88871	D	0.278399	0.65105	T	-0.0738966	0.40702	T	0.123688	0.78480	D	0.0594953684000898	0.07088	T	0.951405	0.81464	D	0.32032996	0.54668	0.30369455	0.56399	0.32032996	0.54668	0.30369455	0.56398	-12.653	0.87883	D	.	.	0.275	0.64808	B	.;.	.;.	3.597810	0.50803	23.0	0.99794053071640543	0.87928	0.78503	0.38740	D	AEBI	0.318076	0.42188	N	0.159816399932336	0.49277	3.129954	0.0468951565094147	0.41922	2.526804	0.213328504635467	0.18266	0.732398	0.92422	0	0.709663	0.81188	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	4.85	2.04	0.25787	0.396000	0.20592	0.238000	0.16272	-0.349000	0.05595	0.995000	0.38783	0.933000	0.28592	0.995000	0.73285	0.0:0.7401:0.0:0.2599	8.034	0.29640	733	0.53988	EamA domain;EamA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002525	0.000000	0.004076	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	684.63	34	chr2	113735790	.	T	A	684.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.618;DP=228;ExcessHet=0;FS=2.268;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=0.697;SOR=0.907	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	6	0	1	0
chr2	115753250	115753250	A	G	exonic	DPP10	.	nonsynonymous SNV	DPP10:NM_001321913:exon9:c.A265G:p.I89V,DPP10:NM_001321909:exon10:c.A910G:p.I304V,DPP10:NM_001004360:exon11:c.A1006G:p.I336V,DPP10:NM_001178034:exon11:c.A1039G:p.I347V,DPP10:NM_001178037:exon11:c.A1015G:p.I339V,DPP10:NM_001321908:exon11:c.A937G:p.I313V,DPP10:NM_001321911:exon11:c.A877G:p.I293V,DPP10:NM_001321914:exon11:c.A265G:p.I89V,DPP10:NM_001178036:exon12:c.A877G:p.I293V,DPP10:NM_001321905:exon12:c.A1078G:p.I360V,DPP10:NM_001321906:exon12:c.A1006G:p.I336V,DPP10:NM_001321910:exon12:c.A877G:p.I293V,DPP10:NM_001321912:exon12:c.A877G:p.I293V	.	436	1084	2	0	0	2	0.000921659	.	.	.	2372041	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.051	0.00546687323721	7.7e-05	.	0.0001	0	0.0002	0	0	0.0001	0	0.0005	0.0001164	18	154602	rs377189934	7.673e-05	7.73e-05	4.635e-05	0.0001	0.0006	6.5e-05	6.079e-05	0.0004	0.0004	0	8.957e-05	3.835e-05	0	0	0.0005	4.232e-05	0.0001	0.0006	7.882e-05	7.874e-05	6.427e-05	9.403e-05	0.0001	4.495e-05	3.511e-05	5.844e-05	4.241e-05	2.406e-05	0	0	0	0	0	0.0034	0.0001	0.0009	0	0.936	0.02981	T	0.683	0.06052	T	0.009	0.15093	B	0.012	0.16012	B	0.000003	0.62929	D	0.058645	0.990692	0.41215	D	0.37	0.12060	N	1.61	0.28391	T	-0.04	0.07590	N	0.076	0.06322	-1.0840	0.06591	T	0.043	0.18285	T	10	0.029397428	0.01067	T	0.005467	0.14075	T	0.051	0.14325	.	.	0.082315109003	0.07666	0.22200918125884497	0.22115	0.135576378678	0.15282	0.576366662979	0.49573	T	0.01168	0.10383	T	-0.464774	0.00917	T	-0.547908	0.17526	T	0.0193429418792422	0.00639	T	0.845015	0.53448	T	0.18493593	0.39832	0.13168548	0.31615	0.18493593	0.39832	0.13168548	0.31614	-2.896	0.12358	T	.	.	0.064	0.05623	B	.;.;.;.	.;.;.;.	1.815043	0.23067	15.87	0.77343454685672841	0.11836	0.87005	0.46418	D	AEFI	0.310556	0.41654	N	-0.451686426096407	0.23683	1.273507	-0.25888092329145	0.29466	1.651101	7.41907125105796E-5	0.04552	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.1	3.95	0.44952	2.244000	0.42775	6.700000	0.56368	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.9215:0.0:0.0785:0.0	10.085	0.41585	944	0.12746	Dipeptidylpeptidase IV, N-terminal domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.08333	448.27	33	chr2	115753250	.	A	G	448.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.223;DP=198;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-2.061;SOR=0.512	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,985:.	5	0	1	1
chr2	119436920	119436920	G	A	exonic	TMEM37	.	nonsynonymous SNV	TMEM37:NM_183240:exon2:c.G53A:p.R18H	.	436	1085	1	0	0	1	0.000460617	.	.	.	2682349	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.051	0.00635637157018	.	.	4.151e-05	0	0	0	0.0005	3.014e-05	0	0	3.23e-05	5	154602	rs780577316	2.257e-05	2.257e-05	2.314e-05	2.2e-05	5.974e-05	1.61e-05	1.416e-05	9.89e-06	3.7e-06	5.974e-05	0	0	5.038e-05	0.0004	0	5.396e-06	0	2.319e-05	3.285e-05	3.283e-05	2.569e-05	4.035e-05	0.0002	1.261e-05	7.98e-06	.	.	2.412e-05	0	0	0	0.0002	0.0002	0	1.47e-05	0	0	0.431	0.09514	T	0.306	0.19972	T	0.003	0.11197	B	0.0	0.01387	B	0.578383	0.05521	N	1.223480	1	0.08975	N	0	0.06538	N	.	.	.	-0.42	0.14193	N	0.088	0.06587	-0.9418	0.42330	T	0.024	0.10194	T	9	0.01436156	0.00302	T	0.006356	0.16696	T	0.051	0.14325	0.16	0.06396	0.104622674875	0.10061	0.1428964748988607	0.14212	0.40514499607	0.41401	0.20956620574	0.00793	T	0.073182	0.34635	T	-0.523863	0.00418	T	-0.889639	0.00578	T	0.0161304497268225	0.00390	T	0.170383	0.01611	T	0.015037311	0.00119	0.034552827	0.02544	0.015037311	0.00119	0.034552827	0.02543	-5.118	0.38096	T	.	.	0.073	0.04806	B	.;.	.;.	-1.299809	0.00438	0.009	0.81048416587540806	0.13494	0.03993	0.09413	N	AEFDBCI	0.098443	0.19838	N	-1.65772215217088	0.01003	0.0434768	-1.63633240917736	0.01448	0.06550052	0.999999996112297	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.93	-8.04	0.00980	-0.829000	0.04522	-5.365000	0.01746	-0.105000	0.15698	0.000000	0.06391	0.000000	0.08366	0.629000	0.32131	0.7778:0.0965:0.1257:0.0	14.217	0.65341	910	0.22284	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	337.46	37	chr2	119436920	.	G	A	337.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.226;DP=221;ExcessHet=0;FS=3.12;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=0.289;SOR=0.318	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1349	6	0	1	0
chr2	119464151	119464151	T	C	exonic	SCTR	.	nonsynonymous SNV	SCTR:NM_002980:exon6:c.A608G:p.D203G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00396807400138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.959	0.02102	T	0.348	0.17585	T	0.01	0.15535	B	0.042	0.24114	B	0.009696	0.30245	N	0.230437	0.993763	0.42045	D	0.51	0.13489	N	1.41	0.33412	T	-1.23	0.31170	N	0.311	0.35088	-1.0368	0.18295	T	0.032	0.13942	T	10	0.13941738	0.26509	T	0.003968	0.09400	T	0.084	0.24469	0.412	0.44887	0.529361283073	0.52585	0.26130517237575657	0.26043	0.137908157102	0.15549	0.473214328289	0.35123	T	0.133331	0.46394	T	-0.261271	0.12751	T	-0.613074	0.11735	T	0.278411597013474	0.24104	T	0.166983	0.28920	T	0.5270554	0.68663	0.14969501	0.35334	0.5270554	0.68664	0.14969501	0.35333	-3.463	0.15917	T	.	.	0.094	0.18950	B	.;.;.	.;.;.	4.116587	0.61501	24.3	0.70807622855558949	0.09417	0.91200	0.53056	D	AEFDGBHCI	0.670165	0.63734	D	-0.495604289503862	0.22225	1.185187	-0.331300113746595	0.27093	1.50102	0.99989139751208	0.45129	0.533608	0.22052	0	0.588066	0.40923	0	0.685742	0.62368	0	0.564101	0.26826	0	.	.	5.24	5.24	0.72863	5.803000	0.68791	4.920000	0.46033	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0:0.0815:0.0:0.9185	9.016	0.35333	932	0.16191	GPCR, family 2-like;GPCR, family 2-like;GPCR, family 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	36	chr2	119464151	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1306	6	1	0	0
chr2	119524159	119524159	T	C	exonic	SCTR	.	nonsynonymous SNV	SCTR:NM_002980:exon1:c.A68G:p.H23R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0008	0.000998403	0.0004	0.0042	0.0039	0	0	0	0	0	0.0001294	20	154602	rs201624828	6.64e-05	7.183e-05	7.122e-05	6.145e-05	0.0023	5.515e-05	5.112e-05	0.0018	0.0017	0.0023	0.0002	0	0	0	0.0002	0	0.0003	0	0.0009	0.0009	0.0009	0.0009	0.0031	0.0008	0.0007	0.0027	0.0025	0.0031	0	0.0003	0	0	0	0	0	0	0	0.361	0.11882	T	0.378	0.16086	T	0.007	0.14184	B	0.002	0.06944	B	0.362709	0.04314	N	1.519390	1	0.08975	N	0.895	0.22405	L	0.64	0.52867	T	-1.24	0.31375	N	0.084	0.06059	-1.0640	0.10784	T	0.058	0.24279	T	10	0.0065790713	0.00149	T	.	.	.	0.009	0.00846	.	.	0.313210971179	0.30940	0.13858907434218593	0.13781	0.114024005807	0.12861	0.551463782787	0.46064	T	0.149073	0.48792	T	-0.600857	0.00144	T	-0.642033	0.09522	T	0.0155929707624359	0.00356	T	0.160684	0.01448	T	0.037651382	0.04868	0.0359155	0.02936	0.037651382	0.04868	0.0359155	0.02936	-1.684	0.02187	T	.	.	0.053	0.00291	B	.	.	-0.036515	0.04038	0.930	0.46248756526633289	0.03690	0.07794	0.13790	N	AEFDBHCIJ	0.063868	0.12369	N	-1.41848865699363	0.02476	0.1094139	-1.44327833330052	0.02832	0.1309857	0.786948331451073	0.23947	0.623204	0.39778	0	0.563428	0.19063	0	0.378051	0.06126	2	0.530356	0.10902	0	.	.	3.19	-0.824	0.10266	-0.066000	0.11556	-0.181000	0.11132	-1.823000	0.00598	0.025000	0.20085	0.299000	0.24210	0.001000	0.02609	0.0:0.2538:0.2211:0.5251	3.132	0.06041	930	0.16408	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	920.49	34	chr2	119524159	.	T	C	920.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.765;DP=254;ExcessHet=0;FS=0.852;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-1.515;SOR=0.527	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1179	6	0	1	0
chr2	120346189	120346189	A	G	exonic	INHBB	.	startloss	INHBB:NM_002193:exon1:c.A1G:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427	0.996940963317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.115	0.26429	B	0.013	0.16460	B	0.018453	0.27480	U	0.205916	1	0.81001	D	.	.	.	-1.25	0.79072	T	-0.45	0.14782	N	0.628	0.64223	-0.6637	0.62113	T	0.266	0.63727	T	9	0.9828981	0.98395	D	0.996941	0.99994	D	0.427	0.73445	0.999	0.99990	0.97087608739	0.97056	0.3328121226306212	0.33194	.	.	.	.	.	0.279428	0.65211	T	0.17812	0.71870	D	0.0180802	0.71506	D	0.891197085380554	0.54211	D	0.9	0.65058	D	0.78114855	0.82725	0.62484825	0.78134	0.78114855	0.82726	0.62484825	0.78135	-9.279	0.69475	D	.	.	.	.	.	.	.	2.947104	0.39199	20.9	0.91610639985195386	0.20894	0.03590	0.08812	N	AEFDBCIJ	0.010969	0.00088	N	-0.640443545543785	0.17739	0.9153591	-0.673966179264197	0.17612	0.9373236	0.9999983217983	0.74766	0.495885	0.18260	0	0.491552	0.07993	0	0.616487	0.41570	0	0.526665	0.08891	0	.	.	2.37	2.37	0.28337	0.502000	0.22302	.	.	0.517000	0.23534	0.999000	0.42656	1.000000	0.68203	0.488000	0.28746	0.7525:0.0:0.0:0.2475	5.514	0.16185	706	0.57215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	30.39	2	chr2	120346189	.	A	G	30.39	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.383;DP=14;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=7.6;ReadPosRankSum=0;SOR=0.105	GT:AD:DP:GQ:PL	0/1:2,2:4:37:37,0,70	3	0	1	3
chr2	120984646	120984646	C	T	exonic	GLI2	.	nonsynonymous SNV	GLI2:NM_001374354:exon11:c.C1433T:p.T478M,GLI2:NM_001371271:exon12:c.C1859T:p.T620M,GLI2:NM_001374353:exon12:c.C1808T:p.T603M,GLI2:NM_005270:exon12:c.C1859T:p.T620M	Culler-Jones syndrome, Autosomal dominant;Holoprosencephaly 9, Autosomal dominant	0	1484	37	1	0	39	0.0129697	.	.	.	223606	Holoprosencephaly_9|Postaxial_polydactyly-anterior_pituitary_anomalies-facial_dysmorphism_syndrome|not_specified|not_provided|Anophthalmia-microphthalmia_syndrome|Bardet-Biedl_syndrome	MONDO:MONDO:0012563,MedGen:C1835819,OMIM:610829,Orphanet:2162|MONDO:MONDO:0014369,MedGen:C4014479,OMIM:615849,Orphanet:420584|MedGen:CN169374|MedGen:C3661900|MedGen:C5680330,Orphanet:98555|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.062	.	0.0008	0.00219649	0.0026	0.0004	0.0003	0.0001	0	0.0019	0.0045	0.0107	0.0023738	367	154602	rs142775128	0.0021	0.0021	0.0018	0.0024	0.0104	0.0020	0.0020	0.0098	0.0096	0.0001	0.0005	0.0037	5.038e-05	0.0002	0.0055	0.0016	0.0026	0.0104	0.0013	0.0013	0.0012	0.0014	0.0089	0.0011	0.0011	0.0068	0.0060	0.0004	0	0.0006	0.0035	0.0004	9.411e-05	0.0068	0.0016	0.0014	0.0089	0.122	0.27663	T	0.037	0.51737	D	0.832	0.46138	P	0.226	0.38054	B	0.515791	0.11796	N	0.806041	1	0.08975	N	0.69	0.16971	N	2.47	0.14783	T	-1.5	0.36586	N	0.185	0.20129	-1.0557	0.12855	T	0.031	0.13504	T	10	0.00654158	0.00148	T	.	.	.	0.062	0.17934	.	.	0.339440827056	0.33553	0.23877867945309053	0.23791	0.465526152677	0.45986	0.310651242733	0.12005	T	0.441684	0.78613	T	-0.588781	0.00170	T	-0.609125	0.12055	T	0.00664244789238777	0.00074	T	0.612939	0.23352	T	0.03308176	0.03456	0.04148887	0.04728	0.036132056	0.04387	0.037408102	0.03388	-4.641	0.32683	T	.	.	0.082	0.08948	B	.;.	.;.	1.907197	0.24225	16.32	0.92458925033073125	0.21885	0.20783	0.21167	N	AEFDBI	0.278556	0.39281	N	-0.546217494471762	0.20602	1.087282	-0.623952830292463	0.18879	1.010464	0.999553440065076	0.40362	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.9	3.08	0.34576	2.217000	0.42521	.	.	0.599000	0.40250	0.005000	0.17040	0.138000	0.23065	0.000000	0.00833	0.0:0.7701:0.1528:0.0771	9.809	0.39978	697	0.58201	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.001359	0.005848	0.000000	0.000000	0.006098	0.003788	0.07143	186.44	38	chr2	120984646	.	C	T	186.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.048;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=0.328;SOR=0.593	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1367	6	0	1	0
chr2	121281207	121281207	G	A	exonic	TFCP2L1	.	nonsynonymous SNV	TFCP2L1:NM_014553:exon2:c.C127T:p.R43C	.	417	1092	12	1	0	14	0.00636943	.	.	.	719221	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.173	.	0.0031	0.0135783	0.0071	0.0010	0.0018	0.0247	0.0003	0.0026	0.0099	0.0265	0.0065523	1013	154602	rs36096257	0.0055	0.0055	0.0049	0.0061	0.0369	0.0054	0.0054	0.0354	0.0347	0.0006	0.0019	0.0018	0.0369	0.0006	0.0023	0.0034	0.0055	0.0259	0.0036	0.0037	0.0032	0.0042	0.0298	0.0034	0.0033	0.0258	0.0243	0.0008	0	0.0011	0.0035	0.0293	9.42e-05	0	0.0027	0.0052	0.0298	0.006	0.61437	D	0.022	0.57587	D	0.6	0.39325	P	0.601	0.50808	P	0.037719	0.24369	N	0.426048	0.998322	0.44771	D	0.69	0.16971	N	2.25	0.17761	T	-2.95	0.61580	D	0.32	0.36043	-1.0971	0.04460	T	0.009	0.03403	T	10	0.006480187	0.00147	T	.	.	.	0.173	0.43840	.	.	0.0934897674506	0.08844	0.34810214350833574	0.34724	1.22236575028	0.81114	0.514001905918	0.40783	T	0.510856	0.82704	D	-0.556174	0.00268	T	-0.526892	0.19597	T	0.0407921370854807	0.03834	T	0.860814	0.55431	D	0.17729826	0.38688	0.17207918	0.39436	0.17729826	0.38688	0.17207918	0.39435	-8.254	0.62788	D	.	.	0.117	0.23814	B	.	.	5.299185	0.88967	29.8	0.99918663217454828	0.98586	0.92661	0.56239	D	AEFDBI	0.770655	0.70553	D	0.323335413033749	0.57349	3.901808	0.415104801820094	0.62505	4.46701	0.997185812332348	0.35354	0.57788	0.32782	0	0.59043	0.45803	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	5.2	4.24	0.49486	5.735000	0.68231	7.187000	0.57764	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.5616:0.4384	10.589	0.44488	962	0.08456	CP2 transcription factor	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.004076	0.002924	0.000000	0.000000	0.015244	0.003788	0.07143	750.49	45	chr2	121281207	.	G	A	750.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.672;DP=261;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=1.65;SOR=0.617	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1269	6	0	1	0
chr2	121285070	121285070	G	T	exonic	TFCP2L1	.	nonsynonymous SNV	TFCP2L1:NM_014553:exon1:c.C40A:p.H14N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.42230635562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.458e-06	2.736e-06	2.89e-06	0	3.237e-05	2.4e-07	9e-08	.	.	0	0	0	3.237e-05	0	0	9.341e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.529	0.07048	T	0.507	0.10930	T	0.204	0.29802	B	0.046	0.24676	B	0.005741	0.32555	N	0.250541	0.693839	0.33353	D	1.245	0.31408	L	2.32	0.16640	T	-0.18	0.09796	N	0.433	0.47208	-1.0143	0.25561	T	0.028	0.12058	T	10	0.1782785	0.32905	T	0.422306	0.93818	D	0.070	0.20419	0.154	0.05752	0.27064940482	0.26676	0.385706514522809	0.38485	0.56917265543	0.53102	0.916976451874	0.98084	D	0.028424	0.20594	T	-0.233673	0.16167	T	-0.573432	0.15137	T	0.197452560067177	0.20274	T	0.572243	0.20426	T	0.084016	0.19426	0.12683268	0.30540	0.084016	0.19426	0.12683268	0.30539	-3.031	0.10519	T	.	.	0.061	0.01109	B	.	.	4.369120	0.67248	25.1	0.70988446390185245	0.09478	0.80499	0.40120	D	AEFDBHCI	0.515665	0.54253	D	-0.817317078866463	0.12868	0.6300559	-0.712725505931687	0.16644	0.8814599	0.999999981324131	0.74766	0.59774	0.34471	0	0.541168	0.11318	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.36	2.55	0.29757	4.772000	0.62019	9.491000	0.80895	0.578000	0.29377	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.1486:0.0:0.8514:0.0	10.948	0.46525	967	0.07127	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	759.46	18	chr2	121285070	.	G	T	759.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.592;DP=190;ExcessHet=0;FS=2.481;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.5;ReadPosRankSum=0.643;SOR=0.407	GT:AD:DP:GQ:PL	0/1:18,31:49:99:770,0,353	6	0	1	0
chr2	121736754	121736754	T	C	exonic	NIFK	.	nonsynonymous SNV	NIFK:NM_032390:exon1:c.A97G:p.I33V	.	419	1071	32	0	0	32	0.0147194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00365381184315	0.0005	0.00219649	0.0011	0	0.0011	0	0	0.0012	0.0022	0.0024	0.0010543	163	154602	rs150674424	0.0008	0.0008	0.0006	0.0009	0.0127	0.0007	0.0007	0.0103	0.0095	0.0003	0.0019	0.0003	0	3.744e-05	0.0127	0.0006	0.0016	0.0021	0.0006	0.0006	0.0005	0.0007	0.0021	0.0005	0.0005	0.0012	0.0011	0.0002	0	0.0018	0	0.0002	0	0.0068	0.0005	0.0028	0.0021	0.78	0.22920	T	0.72	0.35082	T	0.001	0.07471	B	0.001	0.04355	B	0.919597	0.08496	N	0.962951	1	0.08975	N	0	0.06538	N	2.38	0.15843	T	0.0	0.12661	N	0.05	0.02179	-0.9671	0.37794	T	0.021	0.09009	T	10	0.00405547	0.00079	T	0.003654	0.08402	T	0.015	0.02232	.	.	0.340510301474	0.33666	0.21560032084306935	0.21476	0.0938221672316	0.10595	0.281098932028	0.07646	T	0.012792	0.11182	T	-0.701879	0.00036	T	-0.787144	0.02244	T	0.0225315469418144	0.00969	T	0.318868	0.10241	T	0.032420773	0.03264	0.033643756	0.02295	0.032420773	0.03264	0.033643756	0.02294	-3.715	0.19540	T	.	.	0.073	0.33179	B	.;.	.;.	0.992886	0.13709	10.25	0.76246405758181179	0.11391	0.00590	0.02647	N	ALL	0.019555	0.00689	N	-1.20663186720539	0.04901	0.2222544	-1.28291433113126	0.04661	0.2203831	0.99999999999498	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.3	-0.361	0.11939	0.123000	0.15536	0.233000	0.16214	0.490000	0.22344	0.006000	0.17386	0.000000	0.08366	0.041000	0.14368	0.0:0.4952:0.2008:0.304	3.592	0.07540	818	0.41518	.;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013171	0.030612	0.005450	0.032164	0.000000	0.008621	0.009317	0.003817	0.07143	809.83	33	chr2	121736754	.	T	C	809.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.045;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.601;SOR=0.614	GT:AD:DP:GQ:PL	0/1:39,35:74:99:820,0,928	6	0	1	0
chr2	124911490	124911490	C	T	exonic	CNTNAP5	.	nonsynonymous SNV	CNTNAP5:NM_001367498:exon23:c.C3679T:p.R1227W,CNTNAP5:NM_130773:exon23:c.C3676T:p.R1226W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.451	0.156676354	.	.	.	.	.	.	.	.	.	.	.	.	.	rs376650684	8.283e-06	1.231e-05	9.598e-06	6.95e-06	6.943e-05	4.42e-06	3.49e-06	1.841e-05	9.1e-06	0	6.943e-05	0	2.553e-05	0	0	4.524e-06	0	3.575e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.023	0.57104	D	0.996	0.68779	D	0.549	0.49194	P	0.127696	0.18758	N	0.367581	0.96389	0.26005	N	2.595	0.75868	M	-2.38	0.88298	D	-2.52	0.54702	D	0.53	0.55886	-0.0522	0.81160	T	0.652	0.87869	D	10	0.5091638	0.61995	D	0.156676	0.83740	D	0.451	0.75143	0.407	0.44066	0.69747905316	0.69486	0.3851643764380575	0.38431	0.358396974487	0.37549	0.517060935497	0.41212	T	0.036829	0.24249	T	-0.074791	0.40558	T	-0.144855	0.59696	T	0.79013603925705	0.45698	D	0.968903	0.88767	D	0.09219827	0.21623	0.101300314	0.24247	0.09219827	0.21622	0.101300314	0.24247	-8.649	0.65411	D	.	.	0.110	0.21011	B	.	.	3.952366	0.57911	23.9	0.99921875244288505	0.98787	0.67320	0.33390	D	AEFI	0.257067	0.37587	N	0.276042268491958	0.54936	3.658268	0.23380060579401	0.51731	3.353292	2.99833678959625E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.69	2.71	0.31092	0.384000	0.20396	0.191000	0.15744	0.596000	0.33519	0.937000	0.32526	0.001000	0.17328	0.921000	0.45669	0.3425:0.5448:0.1127:0.0	10.384	0.43310	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	490.46	36	chr2	124911490	.	C	T	490.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.465;DP=229;ExcessHet=0;FS=5.864;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=1.75;SOR=1.125	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1218	6	0	1	0
chr2	127057480	127057480	G	C	exonic	BIN1	.	nonsynonymous SNV	BIN1:NM_001320641:exon11:c.C1031G:p.P344R,BIN1:NM_139347:exon11:c.C1031G:p.P344R,BIN1:NM_139348:exon11:c.C1031G:p.P344R,BIN1:NM_001320640:exon12:c.C1124G:p.P375R,BIN1:NM_001320642:exon12:c.C1043G:p.P348R,BIN1:NM_139343:exon12:c.C1124G:p.P375R,BIN1:NM_139346:exon12:c.C1076G:p.P359R	Myopathy, centronuclear, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1326370	Myopathy,_centronuclear,_2|not_provided	MONDO:MONDO:0009709,MedGen:C0410204,OMIM:255200,Orphanet:169186|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.343	0.133611964768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.78490	D	0.052	0.63918	T	0.993	0.90584	D	0.937	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.895	0.83812	M	1.17	0.55608	T	-6.95	0.93475	D	0.58	0.78546	-0.4310	0.71034	T	0.323	0.69212	T	10	0.6239728	0.68137	D	0.133612	0.81600	D	0.343	0.66488	0.291	0.25241	0.817751426059	0.81603	0.6317577599021794	0.63109	0.940450297406	0.72188	0.787007808685	0.79988	T	0.65375	0.89525	D	0.171912	0.71299	D	0.00916363	0.70929	D	0.993876159191132	0.84863	D	0.948405	0.83523	D	0.70922375	0.78565	0.70377296	0.82540	0.70922375	0.78566	0.70377296	0.82541	-16.225	0.98078	D	0.6776583254216104	0.75360	0.501	0.80861	A	.;.;.;.	.;.;.;.	4.738564	0.76397	26.5	0.99865648199799839	0.94366	0.99765	0.99303	D	AEFDBI	0.884570	0.81437	D	0.812070727867823	0.86855	9.021382	0.812633446474509	0.90658	10.50839	0.999999999992452	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	8.991000	0.93075	11.750000	0.95386	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.102	0.89436	968	0.07033	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1731.45	37	chr2	127057480	.	G	C	1731.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.599;DP=404;ExcessHet=0;FS=1.098;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.49;ReadPosRankSum=-0.241;SOR=0.639	GT:AD:DP:GQ:PL	0/1:119,85:204:99:1742,0,2774	6	0	1	0
chr2	127261332	127261332	C	T	exonic	ERCC3	.	nonsynonymous SNV	ERCC3:NM_000122:exon13:c.G1960A:p.E654K,ERCC3:NM_001303416:exon13:c.G1768A:p.E590K,ERCC3:NM_001303418:exon13:c.G1768A:p.E590K	Trichothiodystrophy 2, photosensitive, Autosomal recessive;Xeroderma pigmentosum, group B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	137857	Inborn_genetic_diseases|ERCC3-related_disorder|Xeroderma_pigmentosum|not_specified|not_provided	MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0019600,MedGen:C0043346,Orphanet:910|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.573	0.0921337027499	.	0.00119808	0.0005	0	0	0	0	0	0.0011	0.0039	0.0004657	72	154602	rs568193912	0.0003	0.0003	0.0002	0.0004	0.0043	0.0003	0.0002	0.0040	0.0038	3.013e-05	0	0	2.524e-05	0	0.0007	1.817e-06	0.0003	0.0043	0.0001	0.0001	5.139e-05	0.0002	0.0039	8.161e-05	6.718e-05	0.0026	0.0021	0	0	0	0	0	0	0	0	0	0.0039	0.058	0.37750	T	0.304	0.20100	T	0.435	0.35719	B	0.23	0.38212	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.43	0.70455	M	-0.78	0.73631	T	-2.04	0.46842	N	0.86	0.85660	-0.3503	0.73545	T	0.374	0.73257	T	10	0.013566852	0.00287	T	0.092134	0.75837	D	0.573	0.82686	0.592	0.72123	0.80153605913	0.79968	0.6264288377800509	0.62575	0.710522721883	0.61686	0.856978535652	0.90663	D	0.167703	0.51443	T	0.0233872	0.54838	T	0.259028	0.86046	D	0.130165629079882	0.15397	T	0.981502	0.93790	D	0.67651427	0.76782	0.59648716	0.76570	0.58661985	0.71970	0.5277995	0.72718	-12.051	0.85098	D	0.4276522077079099	0.51534	0.785	0.82701	P	.;.	.;.	4.851740	0.79312	27.1	0.99836845823904885	0.91800	0.97846	0.77568	D	AEFDBI	0.823334	0.74347	D	0.310389892951406	0.56680	3.833232	0.386696119311513	0.60745	4.26551	0.999999999855174	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.45	4.45	0.53365	7.615000	0.82207	7.563000	0.60525	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.646	0.88051	970	0.06235	ERCC3/RAD25/XPB helicase, C-terminal domain|Helicase, C-terminal;ERCC3/RAD25/XPB helicase, C-terminal domain|Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	102.44	36	chr2	127261332	.	C	T	102.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.566;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=0.652;SOR=1.022	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	6	0	1	0
chr2	127307620	127307620	C	T	exonic	MAP3K2	.	nonsynonymous SNV	MAP3K2:NM_006609:exon16:c.G1819A:p.A607T,MAP3K2:NM_001371910:exon17:c.G1819A:p.A607T,MAP3K2:NM_001371911:exon17:c.G1819A:p.A607T	.	434	1085	2	1	0	4	0.00183993	.	.	.	2227508	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.667	0.0685296003998	.	.	0.0006	0	0.0029	0	0	0.0006	0	0.0006	0.0002005	31	154602	rs774242849	0.0002	0.0002	0.0002	0.0002	0.0047	0.0002	0.0002	0.0033	0.0028	0.0005	0.0003	0	0	0	0.0047	0.0001	0.0005	0.0005	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	9.7e-05	0.0002	0.0001	4.815e-05	0	0	0	0	0	0.0170	0.0002	0	0.0006	0.001	0.78490	D	0.01	0.65728	D	0.994	0.66517	D	0.973	0.72923	D	0.000000	0.84330	D	0.046798	1	0.81001	D	2.035	0.55589	M	-0.44	0.69777	T	-3.3	0.65858	D	0.442	0.68342	-0.2896	0.75276	T	0.376	0.73362	T	10	0.13596717	0.25872	T	0.06853	0.70477	D	0.667	0.87625	.	.	0.86949000886	0.86822	0.952147293993105	0.95198	0.353523887301	0.37149	0.733664751053	0.72043	T	0.314227	0.68592	T	-0.0161684	0.49397	T	0.0551547	0.73924	D	0.138733604470688	0.16165	T	0.935106	0.75644	D	0.540861	0.69444	0.5738497	0.75315	0.540861	0.69445	0.5738497	0.75316	-9.144	0.68619	D	.	.	0.328	0.56436	B	.;.	.;.	4.493766	0.70227	25.5	0.99888290695735671	0.96281	0.96272	0.68332	D	AEFGBI	0.380563	0.46316	N	0.437904123104126	0.63522	4.587336	0.429813473656862	0.63429	4.576647	0.999929203431573	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.636168	0.56350	0	.	.	5.7	4.83	0.61880	4.896000	0.62911	5.990000	0.52315	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1381:0.7921:0.0:0.0698	9.893	0.40472	970	0.06235	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004536	0.000000	0.009511	0.002924	0.000000	0.017241	0.003067	0.003788	0.07143	331.63	22	chr2	127307620	.	C	T	331.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.392;DP=188;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.07;ReadPosRankSum=-0.444;SOR=0.412	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1061	6	0	1	0
chr2	127419818	127419818	C	T	exonic	PROC	.	nonsynonymous SNV	PROC:NM_001375602:exon2:c.C59T:p.T20M	Thrombophilia due to protein C deficiency, autosomal dominant, Autosomal dominant;Thrombophilia due to protein C deficiency, autosomal recessive, Autosomal recessive	1	1512	7	2	0	11	0.00362438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	0.000461	12	26028	rs148979279	0.0002	0.0003	0.0002	0.0003	0.0049	0.0002	0.0002	0.0035	0.0030	0.0010	0.0004	0	0	0	0.0049	0.0002	0.0007	0.0006	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0001	0.0002	0.0001	0.0001	0	0.0001	0	0	0	0.0170	0.0002	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	122.21	12	chr2	127419818	.	C	T	122.21	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.14;DP=59;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=-0.388;SOR=0.412	GT:AD:DP:GQ:PL	0/0:11,0:11:33:0,33,313	4	0	1	2
chr2	127627035	127627035	G	A	exonic	MYO7B	.	nonsynonymous SNV	MYO7B:NM_001080527:exon31:c.G4198A:p.A1400T	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.700	0.123231906554	.	.	3.283e-05	0.0002	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs376727312	1.921e-05	1.915e-05	9.553e-06	2.896e-05	0.0002	1.332e-05	1.147e-05	0.0001	8.684e-05	0.0002	4.51e-05	0	0	0	0	6.301e-06	3.326e-05	0.0001	5.914e-05	5.91e-05	1.285e-05	0.0001	0.0002	3.077e-05	2.21e-05	9.567e-05	6.964e-05	0.0002	0	0	0	0	0	0	1.47e-05	0	0	0.021	0.49117	D	0.026	0.55759	D	0.997	0.70673	D	0.629	0.51727	P	0.000034	0.55875	D	0.120939	0.996206	0.46608	D	2.93	0.84523	M	-4.04	0.96465	D	-3.68	0.70314	D	0.441	0.60156	0.936	0.96183	D	0.890	0.96338	D	10	0.60983145	0.67381	D	0.123232	0.80436	D	0.700	0.89192	.	.	0.850423276215	0.84898	0.7464228016602249	0.74588	0.261848077399	0.28738	0.421077132225	0.27984	T	0.028992	0.42870	T	0.209715	0.74803	D	0.0634641	0.74474	D	0.965845763683319	0.67394	D	0.913309	0.69109	D	0.25521633	0.48554	0.2385404	0.49179	0.25521633	0.48554	0.2385404	0.49178	-9.864	0.73093	D	.	.	0.136	0.34405	B	.;.;.	.;.;.	4.459606	0.69394	25.4	0.99899843561256441	0.97199	0.96780	0.70900	D	AEFDBI	0.706833	0.66177	D	0.486941796231428	0.66327	4.935792	0.418276241263366	0.62703	4.490344	0.999971006659733	0.50053	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.88	4.88	0.63131	4.476000	0.59950	9.762000	0.81515	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.200000	0.21896	0.0:0.0:0.8416:0.1584	13.270	0.59587	946	0.12043	FERM domain|Band 4.1 domain;FERM domain|Band 4.1 domain;FERM domain|Band 4.1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1419.83	43	chr2	127627035	.	G	A	1419.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.19;DP=313;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.967;SOR=0.662	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1108	6	0	1	0
chr2	127651559	127651559	-	G	exonic	GPR17	.	frameshift insertion	GPR17:NM_001161417:exon2:c.825dupG:p.A276Gfs*27,GPR17:NM_001161416:exon3:c.825dupG:p.A276Gfs*27,GPR17:NM_005291:exon3:c.909dupG:p.A304Gfs*27,GPR17:NM_001161415:exon4:c.909dupG:p.A304Gfs*27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	923.4	34	chr2	127651559	.	T	TG	923.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.197;DP=275;ExcessHet=0;FS=4.496;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-1.056;SOR=0.335	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1226	6	0	1	0
chr2	130192015	130192015	C	T	exonic	TUBA3E	.	nonsynonymous SNV	TUBA3E:NM_207312:exon5:c.G1169A:p.R390H	.	0	1513	9	0	0	9	0.0029654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.657	0.0520355668385	0.0012	0.00119808	0.0015	0.0007	0.0008	0	0.0011	0.0021	0.0022	0.0008	0.0012872	199	154602	rs142673044	0.0019	0.0019	0.0019	0.0019	0.0078	0.0018	0.0018	0.0060	0.0054	0.0005	0.0007	0.0037	0	0.0013	0.0078	0.0021	0.0020	0.0008	0.0011	0.0011	0.0013	0.0009	0.0018	0.0010	0.0010	0.0016	0.0015	0.0005	0	0.0001	0.0043	0.0004	0.0005	0	0.0018	0.0009	0.0006	.	.	.	0.108	0.37589	T	0.127	0.26966	B	0.118	0.32088	B	0.000132	0.49741	U	0.000000	0.999632	0.47961	D	2.915	0.84231	M	-1.75	0.83495	D	-3.42	0.67241	D	0.743	0.74280	0.187	0.85684	D	0.563	0.84114	D	10	0.047296613	0.04028	T	0.052036	0.64907	D	0.657	0.87135	.	.	0.89226095772	0.89119	0.4417820980022278	0.44095	.	.	0.584975838661	0.50787	T	0.635924	0.88775	D	-0.0973624	0.36862	T	0.0801055	0.75585	D	0.139245137572289	0.16209	T	0.876412	0.58869	D	0.7777611	0.82516	0.45426646	0.68266	0.7777611	0.82518	0.45426646	0.68267	-10.58	0.77305	D	.	.	0.098	0.16231	B	.	.	3.377084	0.46690	22.3	0.98954512059514055	0.49208	0.75489	0.36963	D	AEFGBCI	0.773566	0.70754	D	0.0694160194340757	0.45039	2.767328	0.0842266236580134	0.43755	2.670763	0.997762595797099	0.36002	0.009731	0.00075	3	0.514364	0.08380	0	0.514364	0.09456	0	0.714379	0.83352	0	.	.	2.96	2.96	0.33383	4.422000	0.59604	.	.	0.505000	0.23025	1.000000	0.71638	0.000000	0.08366	0.040000	0.14268	0.0:1.0:0.0:0.0	11.691	0.50780	982	0.03397	Tubulin/FtsZ, 2-layer sandwich domain|Tubulin/FtsZ, 2-layer sandwich domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002643	0.005051	0.000000	0.004098	0.000000	0.000000	0.006098	0.000000	0.1429	2815.25	43	chr2	130192015	.	C	T	2815.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.23;DP=430;ExcessHet=0.3476;FS=0.475;MLEAC=2;MLEAF=0.143;MQ=43.38;MQRankSum=-0.419;QD=11.59;ReadPosRankSum=1.1;SOR=0.747	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	0	2	0
chr2	130193847	130193847	A	G	exonic	TUBA3E	.	nonsynonymous SNV	TUBA3E:NM_207312:exon4:c.T995C:p.I332T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.785	0.0213278058338	.	.	8.252e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs778961712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.42086	T	1.0	0.90584	D	1.0	0.97372	D	0.000107	0.50451	U	0.000000	0.999257	0.46462	D	3.195	0.89043	M	-1.65	0.82625	D	-3.31	0.65972	D	0.808	0.80375	0.437	0.89646	D	0.693	0.89407	D	10	0.93653923	0.92983	D	0.021328	0.44082	T	0.785	0.92868	0.79	0.91217	0.840296933724	0.83876	0.6153953610287382	0.61471	.	.	0.823303520679	0.85535	D	0.57857	0.86163	D	0.312488	0.83929	D	0.211091	0.83721	D	0.987806260585785	0.78233	D	0.937806	0.76632	D	0.7458287	0.80627	0.6943319	0.82006	0.7458287	0.80628	0.6943319	0.82007	-12.435	0.86906	D	.	.	0.810	0.77740	P	.	.	3.812194	0.54996	23.6	0.98126902119866677	0.38481	0.92061	0.54858	D	AEFI	0.949053	0.96129	D	0.549897872241856	0.70075	5.448662	0.390883225166419	0.61002	4.294412	0.58878817059422	0.21630	0.421363	0.06395	0	0.550933	0.16991	0	0.536957	0.11973	0	0.613276	0.41899	0	.	.	2.96	2.96	0.33383	7.997000	0.87980	.	.	0.634000	0.51959	1.000000	0.71638	1.000000	0.68203	0.061000	0.16044	1.0:0.0:0.0:0.0	9.303	0.37020	982	0.03397	Tubulin/FtsZ, 2-layer sandwich domain|Tubulin/FtsZ, 2-layer sandwich domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	4327.44	47	chr2	130193847	.	A	G	4327.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.487;DP=588;ExcessHet=0;FS=0.403;MLEAC=1;MLEAF=0.071;MQ=59.92;MQRankSum=-0.474;QD=13.4;ReadPosRankSum=-2.664;SOR=0.679	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,100,1800	6	0	1	0
chr2	130463126	130463126	C	T	exonic	POTEI	.	nonsynonymous SNV	POTEI:NM_001277406:exon15:c.G2918A:p.G973D,POTEI:NM_001371926:exon17:c.G2984A:p.G995D	.	17	1462	43	0	0	43	0.0144928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.429	.	.	0.00599042	0.0862	0	0.25	.	.	0.2	.	0.5	0.0005304	82	154602	rs199773105	0.0061	0.0069	0.0059	0.0063	0.0137	0.0060	0.0059	0.0109	0.0100	0.0009	0.0043	0.0036	0.0002	0.0011	0.0137	0.0065	0.0055	0.0104	0.0055	0.0039	0.0059	0.0049	0.0149	0.0050	0.0048	0.0098	0.0081	0.0007	0.0294	0.0060	0.0051	0.0005	0.0017	0.0105	0.0082	0.0079	0.0149	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.841103	0.28629	N	4.35	0.98464	H	-4.35	0.97292	D	-5.12	0.83157	D	0.345	0.38643	0.818	0.94632	D	0.966	0.98910	D	6	0.004136771	0.00081	T	.	.	.	0.429	0.73590	.	.	0.314716216878	0.31082	0.08182548998098027	0.08117	.	.	0.573933362961	0.49232	T	0.758635	0.93444	D	-0.104878	0.35615	T	0.0765659	0.75348	D	0.190866874594274	0.19896	T	0.966903	0.87955	D	0.7161771	0.78949	0.6736337	0.80842	0.7161771	0.78951	0.6736337	0.80843	-11.571	0.82699	D	.	.	0.459	0.62665	A	.	.	2.451597	0.31569	18.78	0.99168820127336643	0.54326	0.81478	0.40873	D	AEFI	0.302231	0.41053	N	-0.00528454834388875	0.41614	2.492382	-0.324298975982863	0.27316	1.514877	9.32829367166945E-4	0.08027	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	.	.	.	5.533000	0.66873	.	.	0.171000	0.17763	1.000000	0.71638	0.987000	0.30940	0.194000	0.21720	0.0:0.9992:0.0:8.0E-4	5.905	0.18235	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	351.27	24	chr2	130463126	.	C	T	351.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.1;DP=213;ExcessHet=0;FS=5.056;MLEAC=1;MLEAF=0.083;MQ=33.9;MQRankSum=-0.94;QD=4.81;ReadPosRankSum=-1.521;SOR=1.426	GT:AD:DP:GQ:PL	0/1:50,23:73:99:361,0,1015	5	0	1	1
chr2	130657618	130657618	G	A	exonic	POTEJ	.	nonsynonymous SNV	POTEJ:NM_001277083:exon15:c.G2858A:p.R953H	.	23	1497	2	0	0	2	0.000667557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.351	0.00886084536981	.	.	0.0008	0	0.0015	0	0	0.0004	0.0081	0.0016	3.84e-05	1	26028	rs760892111	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	3.32e-05	4.53e-05	3.924e-05	2.522e-05	0	0.0005	0.0003	0.0001	0.0004	0.0002	0.0002	0.0002	0.0001	0.0010	0.0001	9.611e-05	0.0004	0.0002	3.529e-05	0	8.005e-05	0	0.0002	0.0001	0	0.0002	0	0.0010	0.0	0.91255	D	0.037	0.51737	D	.	.	.	.	.	.	.	.	.	.	0.990504	0.24162	N	2.89	0.83701	M	-3.84	0.95826	D	-3.97	0.73684	D	0.253	0.28616	0.594	0.91823	D	0.896	0.96539	D	7	0.31159663	0.48628	T	0.008861	0.23366	T	0.351	0.67234	0.851	0.95260	0.404592120364	0.40076	0.1480806496777454	0.14730	.	.	.	.	.	0.688591	0.90924	D	-0.179875	0.23755	T	-0.125069	0.61383	T	0.339631812302594	0.26609	T	0.79872	0.44372	T	0.29141822	0.52124	0.28957516	0.54978	0.29141822	0.52124	0.28957516	0.54977	-6.628	0.51267	T	.	.	0.212	0.44095	B	.	.	1.481415	0.19071	14.07	0.97540697671759113	0.34512	0.50301	0.28631	D	AEFI	.	.	.	-0.632435182623006	0.17975	0.9295659	-0.900603049983904	0.12080	0.6193126	1.596939622828E-5	0.02871	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	0.736	-1.47	0.08312	5.203000	0.65009	.	.	-0.963000	0.01971	1.000000	0.71638	0.497000	0.25183	0.050000	0.15192	0.2634:0.0:0.7366:0.0	4.958	0.13401	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	841.55	28	chr2	130657618	.	G	A	841.55	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.475;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=37.61;MQRankSum=0.669;QD=14.26;ReadPosRankSum=-0.918;SOR=0.569	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,114,1710	6	0	1	0
chr2	130914815	130914815	C	T	exonic	ARHGEF4	.	nonsynonymous SNV	ARHGEF4:NM_001367493:exon2:c.C869T:p.S290L	.	433	1074	13	2	0	17	0.00785219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00359425	.	.	.	.	.	.	.	.	0.0014101	218	154602	rs116650837	0.0101	0.0093	0.0104	0.0099	0.0116	0.0100	0.0099	0.0114	0.0113	0.0016	0.0046	0.0013	5.711e-05	0.0054	0.0032	0.0116	0.0092	0.0042	0.0068	0.0067	0.0073	0.0062	0.0118	0.0064	0.0063	0.0112	0.0109	0.0017	0	0.0044	0.0009	0	0.0041	0	0.0118	0.0090	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044852197	0.00092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002307	0.01700	T	.	.	.	.	.	.	.	.	.	0.429357	0.11628	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.02765	B	.	.	-0.266321	0.02767	0.374	0.72902924776476974	0.10136	0.00040	0.00335	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999945399905462	0.47345	0.090766	0.02384	0	0.059962	0.00310	0	0.129117	0.03641	0	0.062806	0.01542	0	0.0810911	0.18602	4.58	-0.824	0.10266	0.124000	0.15557	.	.	-1.711000	0.00743	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4288:0.0:0.5712	7.741	0.28008	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	175.56	5	chr2	130914815	.	C	T	175.56	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.66;DP=140;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.24;ReadPosRankSum=-0.044;SOR=0.784	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1103	6	0	1	0
chr2	131480177	131480177	G	A	exonic	TUBA3D	.	nonsynonymous SNV	TUBA3D:NM_080386:exon4:c.G484A:p.G162S	.	31	1432	57	2	0	61	0.0208547	.	.	.	4008681	Keratoconus_9	MONDO:MONDO:0054771,MedGen:C4693660,OMIM:617928	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.372	0.013739532995	.	.	2.472e-05	9.612e-05	0	0	0	1.499e-05	0	6.058e-05	0.0001153	3	26028	rs773370954	5.424e-05	0.0007	4.779e-05	6.076e-05	0.0002	4.426e-05	4.097e-05	6.541e-05	4.469e-05	2.995e-05	4.502e-05	0	0.0002	3.8e-05	0	5.229e-05	4.987e-05	8.182e-05	0.0008	0.0088	0.0007	0.0009	0.0015	0.0007	0.0006	0.0007	0.0006	0.0010	0	0.0008	0	0.0015	0.0008	0	0.0007	0	0.0012	.	.	.	0.091	0.40110	T	.	.	.	.	.	.	0.000245	0.46924	U	0.000000	0.999796	0.49177	D	.	.	.	-0.38	0.69027	T	-4.18	0.75537	D	0.746	0.74553	-0.2061	0.77514	T	0.388	0.74253	T	10	0.7384015	0.74784	D	0.01374	0.33370	T	0.372	0.69102	.	.	0.623070239186	0.62000	0.5752379090799399	0.57452	.	.	0.8098269701	0.83465	D	.	.	.	0.0175173	0.54047	T	-0.212614	0.53445	T	0.334729466173626	0.26414	T	.	.	.	0.075779326	0.17095	0.19444855	0.43068	0.075779326	0.17095	0.19444855	0.43067	-9.435	0.70454	D	.	.	0.400	0.59555	A	.	.	5.110224	0.85422	28.6	0.99004400112898183	0.50231	0.94335	0.60838	D	AEFI	0.783927	0.71476	D	0.195489865158393	0.50981	3.283248	0.123047658734254	0.45732	2.831043	0.895999281917701	0.25967	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.24	2.24	0.27264	8.479000	0.90273	.	.	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	10.151	0.41966	940	0.13648	Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.010053	0.035354	0.000000	0.004098	0.000000	0.000000	0.015244	0.003788	0.1429	526.26	37	chr2	131480177	.	G	A	526.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=7.29;DP=827;ExcessHet=0.3476;FS=50.593;MLEAC=2;MLEAF=0.143;MQ=52.55;MQRankSum=-8.364;QD=1.16;ReadPosRankSum=-0.64;SOR=6.121	GT:AD:DP:GQ:PL	0/1:219,25:244:61:61,0,5726	5	0	2	0
chr2	132645376	132645376	G	A	exonic	GPR39	.	nonsynonymous SNV	GPR39:NM_001508:exon2:c.G1132A:p.A378T	.	427	1086	8	1	0	10	0.00458295	.	.	.	215215	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.106	.	0.0091	0.00299521	0.0063	0.0012	0.0069	0	0.0014	0.0095	0.0078	0.0010	0.0064488	997	154602	rs61735719	0.0091	0.0091	0.0094	0.0088	0.0111	0.0090	0.0089	0.0101	0.0100	0.0014	0.0063	0.0286	0	0.0023	0.0111	0.0102	0.0101	0.0010	0.0064	0.0064	0.0063	0.0064	0.0091	0.0060	0.0059	0.0082	0.0080	0.0019	0	0.0091	0.0297	0	0.0019	0.0102	0.0088	0.0109	0.0008	0.464	0.08634	T	0.559	0.09144	T	0.112	0.26290	B	0.026	0.20792	B	0.000000	0.00162	N	9.583410	1	0.08975	N	1.59	0.40313	L	-0.0	0.62608	T	0.09	0.05917	N	0.085	0.06190	-1.0273	0.21331	T	0.086	0.33354	T	10	0.0032978952	0.00057	T	.	.	.	0.106	0.30130	.	.	0.185906805712	0.18197	0.17599505983418076	0.17518	0.317629529523	0.34004	0.216303244233	0.01107	T	0.051421	0.28873	T	-0.634894	0.00089	T	-0.673726	0.07372	T	0.00198395662676419	0.00020	T	0.346965	0.07635	T	0.030566081	0.02742	0.059936635	0.11332	0.030566081	0.02742	0.059936635	0.11331	-1.228	0.01291	T	0.14981847882614366	0.17548	0.066	0.02285	B	.	.	-0.362900	0.02354	0.256	0.9033183416194337	0.19597	0.13917	0.18123	N	AEFDBHCI	0.084354	0.17096	N	-1.45776017297196	0.02156	0.09491289	-1.57398874228423	0.01816	0.08269665	0.999738473075193	0.42341	0.706548	0.73137	0	0.573888	0.26702	0	0.616094	0.41390	0	0.714379	0.83352	0	.	.	4.23	-6.36	0.01796	-0.256000	0.08778	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1566:0.2627:0.1281:0.4526	2.091	0.03435	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005181	0.015152	0.002717	0.003497	0.050000	0.008621	0.009146	0.000000	0.07143	2435.44	33	chr2	132645376	.	G	A	2435.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.782;DP=391;ExcessHet=0;FS=0.534;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-0.999;SOR=0.759	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	6	0	1	0
chr2	132783696	132783696	C	A	exonic	NCKAP5	.	nonsynonymous SNV	NCKAP5:NM_207363:exon14:c.G3115T:p.V1039F	.	403	1118	1	0	0	1	0.000447027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00779379859795	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1476260067	2.737e-06	2.736e-06	1.362e-06	4.127e-06	2.32e-05	6.4e-07	4.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	8.995e-07	1.657e-05	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.033	0.53072	D	0.051	0.22415	B	0.037	0.23121	B	0.003599	0.34740	U	0.000000	1	0.81001	D	1.7	0.43825	L	2.78	0.11298	T	-1.81	0.42575	N	0.185	0.22357	-1.0119	0.26322	T	0.019	0.07893	T	10	0.07506096	0.11553	T	0.007794	0.20668	T	0.039	0.10176	0.128	0.03331	0.0675242888579	0.06100	0.24544012818299216	0.24458	0.0495256337794	0.05423	0.276184231043	0.06966	T	0.007736	0.07126	T	-0.294995	0.09140	T	-0.560886	0.16295	T	0.168545439839363	0.18481	T	0.654835	0.26514	T	0.16263454	0.36352	0.13986208	0.33357	0.16263454	0.36352	0.13986208	0.33356	-5.663	0.43363	T	.	.	0.12	0.24767	B	.;.	.;.	2.197053	0.28021	17.66	0.99565872028678237	0.72075	0.81686	0.41040	D	AEFBI	0.323257	0.42551	N	-0.584215687297886	0.19424	1.016468	-0.544219100569335	0.20958	1.131613	4.53093073142233E-4	0.07036	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.41	2.6	0.30173	0.499000	0.22254	.	.	0.597000	0.34315	0.629000	0.27991	0.074000	0.22270	0.522000	0.29520	0.1415:0.5556:0.1512:0.1517	3.056	0.05811	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	554.44	39	chr2	132783696	.	C	A	554.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.926;DP=319;ExcessHet=0;FS=2.019;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.39;ReadPosRankSum=-0.778;SOR=0.455	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	6	0	1	0
chr2	132784298	132784298	G	T	exonic	NCKAP5	.	nonsynonymous SNV	NCKAP5:NM_207363:exon14:c.C2513A:p.A838D	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.0122249721342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.028	0.54934	D	0.919	0.50927	P	0.51	0.47925	P	0.001705	0.38216	U	0.000000	1	0.08975	N	2.505	0.72935	M	0.89	0.45636	T	-1.08	0.28084	N	0.451	0.57775	-1.0462	0.15476	T	0.083	0.32499	T	10	0.23833513	0.40952	T	0.012225	0.30597	T	0.100	0.28662	0.09	0.01023	0.225033846419	0.22103	0.3132139575603709	0.31234	0.240212864778	0.26565	0.305776238441	0.11269	T	0.005525	0.04972	T	-0.154436	0.27618	T	-0.459613	0.26640	T	0.744059503078461	0.42957	D	0.805819	0.45382	T	0.2492459	0.47918	0.2271649	0.47718	0.2492459	0.47918	0.2271649	0.47717	-4.18	0.26461	T	.	.	0.178	0.38871	B	.;.	.;.	2.259925	0.28873	17.94	0.98893195234838549	0.48037	0.84434	0.43516	D	AEFBI	0.265951	0.38297	N	-0.200090190320815	0.33129	1.876186	-0.30038168124897	0.28086	1.563267	1.78607105011621E-4	0.05786	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.97	2.08	0.26079	2.306000	0.43333	.	.	0.672000	0.70159	0.995000	0.38783	0.138000	0.23065	0.123000	0.19290	0.2126:0.2842:0.5032:0.0	5.620	0.16731	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	733.49	67	chr2	132784298	.	G	T	733.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.201;DP=374;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=-0.396;SOR=0.792	GT:AD:DP:GQ:PL	0/0:100,0:100:99:0,120,1800	6	0	1	0
chr2	135271856	135271856	G	T	exonic	ZRANB3	.	stopgain	ZRANB3:NM_001286568:exon10:c.C1118A:p.S373X,ZRANB3:NM_032143:exon10:c.C1118A:p.S373X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs901639958	5.474e-06	5.472e-06	4.085e-06	6.878e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.049529	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.446	0.48411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.622132	0.98769	D	0.655873	0.98747	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	7.922519	0.96995	36	0.99378058695153115	0.61759	0.98869	0.87939	D	AEFDI	0.243249	0.36456	N	1.16569086177033	0.99172	21.03669	1.04592236039685	0.99334	21.98734	0.999999998056272	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.94	5.94	0.96165	7.739000	0.83905	4.882000	0.45676	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	20.359	0.98850	824	0.40336	.;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	595.53	23	chr2	135271856	.	G	T	595.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.379;DP=218;ExcessHet=0;FS=0.948;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=0.726;SOR=0.836	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1182	6	0	1	0
chr2	135776317	135776317	C	T	exonic	UBXN4	.	nonsynonymous SNV	UBXN4:NM_014607:exon10:c.C1019T:p.A340V	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.0116961689324	.	.	0.0001	0	8.648e-05	0	0	1.5e-05	0.0011	0.0008	0.0001035	16	154602	rs774513849	7.32e-05	7.388e-05	2.314e-05	0.0001	0.0012	6.181e-05	5.742e-05	0.0010	0.0009	0	0	0	0	0	0	0	8.279e-05	0.0012	5.252e-05	5.249e-05	1.285e-05	9.398e-05	0.0017	2.555e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.167	0.23095	T	0.187	0.28764	T	0.992	0.64738	D	0.812	0.58704	P	0.000077	0.52346	D	0.176676	0.999981	0.54805	D	2.175	0.60977	M	2.21	0.18414	T	-2.16	0.48850	N	0.441	0.47949	-1.1535	0.00924	T	0.099	0.36856	T	10	0.13034695	0.24805	T	0.011696	0.29585	T	0.186	0.46104	0.48	0.55983	0.082315109003	0.07666	0.4535407849704472	0.45272	0.815842704147	0.66935	0.629741132259	0.57108	T	0.081734	0.36666	T	-0.376098	0.03296	T	-0.391003	0.34433	T	0.333219319581985	0.26354	T	0.907009	0.67171	D	0.082731254	0.19072	0.15618022	0.36577	0.082731254	0.19072	0.15618022	0.36576	-7.136	0.55020	T	.	.	0.121	0.24967	B	.	.	4.266824	0.64883	24.8	0.99889732656917596	0.96436	0.94511	0.61402	D	AEFBI	0.544517	0.55941	D	0.610344560360246	0.73828	6.030362	0.626490592525328	0.76868	6.571362	0.996196573871193	0.34585	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.86	5.86	0.93936	2.743000	0.47117	5.808000	0.49986	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.186	0.98215	290	0.88477	UBX domain|UBX domain|UBX domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	960.83	39	chr2	135776317	.	C	T	960.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.48;DP=280;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=-0.573;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1086	6	0	1	0
chr2	140700613	140700613	C	A	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon41:c.G6436T:p.V2146F	.	441	1053	27	1	0	29	0.0135831	.	.	.	719267	LRP1B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.294	.	0.0017	0.00339457	0.0035	9.731e-05	0.0020	0	0.0005	0.0030	0.0055	0.0114	0.0031112	481	154602	rs145744070	0.0029	0.0029	0.0024	0.0033	0.0137	0.0028	0.0028	0.0130	0.0128	0.0004	0.0018	0.0101	5.042e-05	0.0006	0.0127	0.0021	0.0033	0.0137	0.0021	0.0021	0.0019	0.0023	0.0106	0.0019	0.0018	0.0083	0.0074	0.0003	0	0.0024	0.0092	0	0.0004	0.0136	0.0025	0.0043	0.0106	0.033	0.44358	D	0.015	0.61642	D	0.077	0.24313	B	0.034	0.22546	B	0.001916	0.37691	U	0.177257	0.999982	0.54805	D	0.75	0.19020	N	-3.75	0.95528	D	-3.02	0.62630	D	0.322	0.36254	0.090	0.83987	D	0.656	0.88050	D	10	0.01934126	0.00431	T	.	.	.	0.294	0.61388	.	.	0.289027227714	0.28505	0.6134016044301749	0.61272	0.250177817609	0.27598	0.353197097778	0.18392	T	0.565857	0.85545	D	-0.264991	0.12321	T	-0.142386	0.59910	T	0.029764845525991	0.01953	T	0.963604	0.86445	D	0.1786296	0.38893	0.16508277	0.38209	0.1786296	0.38893	0.16508277	0.38208	-6.738	0.52096	T	.	.	0.113	0.22391	B	.	.	1.773667	0.22555	15.67	0.98923734901163618	0.48602	0.76164	0.37334	D	AEFDI	0.259673	0.37797	N	-0.467575922367074	0.23148	1.241068	-0.372939358601287	0.25807	1.421501	1.72389479226269E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	4.47	1.62	0.22817	0.139000	0.15858	.	.	-0.249000	0.07183	0.968000	0.34134	0.756000	0.26587	0.958000	0.51230	0.0:0.5814:0.0:0.4186	7.738	0.27988	945	0.12563	EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.005051	0.008152	0.002924	0.000000	0.017241	0.015244	0.011364	0.08333	917.27	33	chr2	140700613	.	C	A	917.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.05;DP=282;ExcessHet=0;FS=1.845;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=0.602;SOR=0.941	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	5	0	1	1
chr2	140994107	140994107	T	C	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon16:c.A2532G:p.I844M	.	427	1063	30	2	0	34	0.0157407	.	.	.	697039	LRP1B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.195	.	0.0028	0.0117812	0.0063	0.0007	0.0021	0.0001	0	0.0024	0.0077	0.0341	0.0058343	902	154602	rs147402550	0.0049	0.0049	0.0040	0.0059	0.0345	0.0048	0.0048	0.0335	0.0331	0.0007	0.0016	0.0007	0.0001	0.0001	0.0096	0.0033	0.0054	0.0345	0.0028	0.0028	0.0025	0.0031	0.0371	0.0026	0.0025	0.0327	0.0310	0.0007	0	0.0022	0.0009	0.0002	0	0.0034	0.0026	0.0028	0.0371	0.152	0.24468	T	0.011	0.64786	D	0.001	0.07471	B	0.003	0.08700	B	0.847102	0.07035	N	1.087950	0.999963	0.18878	N	0	0.06538	N	-2.83	0.91249	D	1.04	0.01332	N	0.099	0.08088	-0.7360	0.58658	T	0.362	0.72354	T	10	0.0046260953	0.00096	T	.	.	.	0.195	0.47612	.	.	0.182106788282	0.17826	0.11120296238086644	0.11049	0.231434023854	0.25697	0.361388236284	0.19588	T	0.082083	0.36747	T	-0.453682	0.01074	T	-0.399392	0.33455	T	0.00324615327500798	0.00034	T	0.60284	0.22604	T	0.057276886	0.11379	0.057300694	0.10391	0.057276886	0.11378	0.057300694	0.10391	-3.998	0.23774	T	.	.	0.081	0.08272	B	.	.	0.184167	0.05711	2.158	0.96061534495411727	0.28593	0.04186	0.09688	N	AEFI	0.071648	0.14272	N	-1.18149815456394	0.05280	0.2403164	-1.18537793561606	0.06153	0.2952971	0.00345728987212099	0.10124	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.76	-6.16	0.01919	-0.732000	0.05008	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.909000	0.44452	0.1881:0.173:0.4111:0.2277	2.222	0.03731	558	0.71484	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008056	0.005051	0.002717	0.005848	0.000000	0.017241	0.006098	0.026515	0.07143	2488.45	33	chr2	140994107	.	T	C	2488.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.33;DP=369;ExcessHet=0;FS=0.571;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=1.23;SOR=0.791	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1246	6	0	1	0
chr2	144007291	144007291	T	C	exonic	GTDC1	.	nonsynonymous SNV	GTDC1:NM_001284234:exon5:c.A379G:p.S127G,GTDC1:NM_001376313:exon6:c.A766G:p.S256G,GTDC1:NM_001006636:exon7:c.A766G:p.S256G,GTDC1:NM_001164629:exon7:c.A766G:p.S256G,GTDC1:NM_001284233:exon7:c.A766G:p.S256G,GTDC1:NM_001284235:exon7:c.A766G:p.S256G,GTDC1:NM_001354358:exon7:c.A766G:p.S256G,GTDC1:NM_001354360:exon7:c.A766G:p.S256G,GTDC1:NM_001354361:exon7:c.A766G:p.S256G,GTDC1:NM_001376308:exon7:c.A766G:p.S256G,GTDC1:NM_001376311:exon7:c.A766G:p.S256G,GTDC1:NM_001376312:exon7:c.A766G:p.S256G,GTDC1:NM_001376315:exon7:c.A766G:p.S256G,GTDC1:NM_001376316:exon7:c.A766G:p.S256G,GTDC1:NM_001376318:exon7:c.A766G:p.S256G,GTDC1:NM_001376320:exon7:c.A766G:p.S256G,GTDC1:NM_001376321:exon7:c.A766G:p.S256G,GTDC1:NM_001376323:exon7:c.A766G:p.S256G,GTDC1:NM_001376324:exon7:c.A766G:p.S256G,GTDC1:NM_001376330:exon7:c.A766G:p.S256G,GTDC1:NM_024659:exon7:c.A766G:p.S256G,GTDC1:NM_001354354:exon8:c.A766G:p.S256G,GTDC1:NM_001354356:exon8:c.A766G:p.S256G,GTDC1:NM_001376306:exon8:c.A913G:p.S305G,GTDC1:NM_001376307:exon8:c.A766G:p.S256G,GTDC1:NM_001376309:exon8:c.A766G:p.S256G,GTDC1:NM_001376314:exon8:c.A766G:p.S256G,GTDC1:NM_001376317:exon8:c.A913G:p.S305G,GTDC1:NM_001376319:exon8:c.A766G:p.S256G,GTDC1:NM_001284238:exon9:c.A670G:p.S224G,GTDC1:NM_001354355:exon9:c.A310G:p.S104G,GTDC1:NM_001376310:exon9:c.A766G:p.S256G,GTDC1:NM_001376322:exon9:c.A766G:p.S256G,GTDC1:NM_001354350:exon10:c.A310G:p.S104G,GTDC1:NM_001376329:exon10:c.A310G:p.S104G,GTDC1:NM_001354351:exon11:c.A379G:p.S127G	.	434	1081	6	1	0	8	0.00368664	.	.	.	3259265	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.00753760507508	0.0002	0.000599042	0.0003	0.0002	0.0010	0	0.0002	0.0004	0	6.072e-05	0.0003558	55	154602	rs145763899	0.0003	0.0003	0.0003	0.0003	0.0132	0.0003	0.0003	0.0108	0.0099	0.0004	0.0011	0.0007	0	0.0001	0.0132	0.0002	0.0007	8.118e-05	0.0004	0.0004	0.0004	0.0004	0.0012	0.0003	0.0003	0.0008	0.0007	0.0002	0	0.0012	0.0003	0	9.42e-05	0.0068	0.0004	0.0019	0	0.173	0.25355	T	0.374	0.29945	T	0.02	0.18235	B	0.016	0.17743	B	0.183274	0.17045	N	0.628661	1	0.08975	N	0.83	0.20963	L	0.86	0.47477	T	-0.92	0.30346	N	0.197	0.21710	-1.0225	0.22899	T	0.078	0.31012	T	10	0.011017561	0.00243	T	0.007538	0.20006	T	0.017	0.02790	.	.	0.101711395817	0.09552	0.18037522653695967	0.17956	0.0425100736559	0.04582	0.205392956734	0.00631	T	0.010273	0.09295	T	-0.493747	0.00620	T	-0.539785	0.18316	T	0.00230573723092675	0.00024	T	0.631737	0.24648	T	0.06957517	0.15253	0.056119543	0.09971	0.06957517	0.15253	0.056119543	0.09971	-4.18	0.28008	T	.	.	0.063	0.04517	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.947525	0.13235	9.736	0.87936319782472061	0.17592	0.74955	0.36681	D	AEFGI	0.103639	0.20759	N	-0.829466545072014	0.12561	0.6130462	-0.739028031851684	0.15993	0.843863	0.320770404121516	0.19382	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.27	1.6	0.22686	1.531000	0.35624	.	.	-0.137000	0.12594	0.991000	0.37257	0.000000	0.08366	0.873000	0.41610	0.0:0.2267:0.0:0.7733	8.652	0.33206	807	0.43470	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.005051	0.013587	0.008772	0.000000	0.017241	0.000000	0.000000	0.07143	55.44	33	chr2	144007291	.	T	C	55.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.248;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.04;ReadPosRankSum=2.36;SOR=0.495	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1308	6	0	1	0
chr2	148469973	148469973	G	A	exonic	MBD5	.	nonsynonymous SNV	MBD5:NM_001378120:exon8:c.G2030A:p.S677N,MBD5:NM_018328:exon9:c.G2030A:p.S677N	Mental retardation, autosomal dominant 1, Autosomal dominant	0	1495	26	1	0	28	0.00927767	.	.	.	101795	MBD5-related_disorder|Intellectual_disability,_autosomal_dominant_1|not_provided|not_specified|Inborn_genetic_diseases	.|MONDO:MONDO:0007974,MedGen:C1969562,OMIM:156200,Orphanet:228402|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.119	0.00410334789892	0.0019	0.00119808	0.0025	0.0002	0.0012	0	0	0.0038	0.0022	0.0019	0.0024256	375	154602	rs114314967	0.0024	0.0024	0.0023	0.0025	0.0104	0.0023	0.0023	0.0083	0.0075	0.0011	0.0020	0.0068	0	0.0001	0.0104	0.0025	0.0038	0.0020	0.0020	0.0020	0.0020	0.0020	0.0035	0.0018	0.0018	0.0027	0.0025	0.0005	0	0.0035	0.0058	0.0002	0.0003	0.0102	0.0028	0.0033	0.0015	0.148	0.28646	T	0.169	0.41239	T	0.0	0.02946	B	0.001	0.04355	B	0.000002	0.62929	D	0.000000	0.617948	0.32679	D	0.6	0.15550	N	0.86	0.46777	T	0.07	0.10136	N	0.311	0.35088	-0.9499	0.40989	T	0.075	0.30335	T	10	0.0047388375	0.00100	T	0.004103	0.09806	T	0.119	0.33137	.	.	0.19168177325	0.18762	0.20758363706956462	0.20674	0.293955471795	0.31813	0.565779864788	0.48082	T	0.024192	0.18324	T	-0.567563	0.00229	T	-0.590777	0.13599	T	0.0270134883176679	0.01546	T	0.733327	0.34901	T	0.12704937	0.29742	0.17002958	0.39082	0.13623318	0.31589	0.21187843	0.45634	-4.148	0.26141	T	0.08610446324125656	0.04923	0.085	0.18247	B	.;.;.;.;.	.;.;.;.;.	2.897324	0.38389	20.7	0.98803831867061409	0.46493	0.97942	0.78303	D	AEFBI	0.597473	0.59124	D	0.137082179098255	0.48200	3.035	0.248262487314622	0.52551	3.429194	0.998462503486971	0.37014	0.566229	0.32551	0	0.653731	0.59785	0	0.653264	0.51672	0	0.674467	0.66132	0	.	.	4.84	3.96	0.45097	6.801000	0.74958	9.943000	0.82671	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.082:0.0:0.918:0.0	11.699	0.50822	601	0.67921	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.025253	0.016304	0.008772	0.000000	0.008621	0.018293	0.007576	0.07143	2035.44	35	chr2	148469973	.	G	A	2035.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.095;DP=338;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=0.402;SOR=0.71	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1265	6	0	1	0
chr2	149571164	149571164	T	C	exonic	MMADHC	.	nonsynonymous SNV	MMADHC:NM_015702:exon7:c.A617G:p.N206S	Homocystinuria, cblD type, variant 1, Autosomal recessive;Methylmalonic aciduria and homocystinuria, cblD type, Autosomal recessive;Methylmalonic aciduria, cblD type, variant 2, Autosomal recessive	2	1479	39	2	0	43	0.0143286	.	.	.	215216	Disorders_of_Intracellular_Cobalamin_Metabolism|not_specified|not_provided|Methylmalonic_aciduria_and_homocystinuria_type_cblD|MMADHC-related_disorder	MedGen:CN043592|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010185,MedGen:C1848552,OMIM:277410,Orphanet:622,Orphanet:79283|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.212	.	0.0010	0.00379393	0.0028	0.0003	0.0004	0.0001	0.0003	0.0017	0.0022	0.0134	0.002652	410	154602	rs138607412	0.0019	0.0019	0.0016	0.0022	0.0130	0.0019	0.0019	0.0124	0.0121	0.0004	0.0006	0.0082	0.0001	0.0002	0.0078	0.0011	0.0027	0.0130	0.0014	0.0014	0.0012	0.0016	0.0116	0.0012	0.0011	0.0092	0.0083	0.0004	0	0.0012	0.0081	0	0.0002	0	0.0013	0	0.0116	0.917	0.03028	T	0.681	0.06090	T	0.0	0.02946	B	0.001	0.06944	B	0.399107	0.13149	N	0.768667	1	0.08975	N	1.085	0.27262	L	-2.3	0.87671	D	-0.04	0.07590	N	0.104	0.14480	-0.8364	0.52885	T	0.319	0.68805	T	10	0.007954836	0.00181	T	.	.	.	0.212	0.50341	.	.	0.300110245524	0.29617	0.11788420008729183	0.11715	0.0292187465592	0.03006	0.236057907343	0.02446	T	0.142872	0.59194	T	-0.543293	0.00320	T	-0.541503	0.18149	T	0.00165468606765495	0.00017	T	0.241876	0.12411	T	0.046905674	0.07928	0.03864054	0.03776	0.04831986	0.08403	0.043936834	0.05578	-3.148	0.11855	T	0.1031454902373414	0.07921	0.046	0.00890	B	.;.;.	.;.;.	-2.183947	0.00067	0.001	0.19098387421944168	0.00630	0.04333	0.09893	N	AEFBI	0.152696	0.27743	N	-2.00063838674196	0.00211	0.009040441	-2.09712911859174	0.00189	0.008322603	0.999999995948491	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.4	-10.8	0.00171	-1.622000	0.02145	-6.267000	0.01447	-3.903000	0.00053	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.0:0.5313:0.0806:0.388	13.640	0.61721	744	0.52588	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006104	0.000000	0.002732	0.005882	0.000000	0.008621	0.012579	0.015267	0.07143	531.63	33	chr2	149571164	.	T	C	531.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.764;DP=244;ExcessHet=0;FS=0.911;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.49;ReadPosRankSum=-0.082;SOR=0.837	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1014	6	0	1	0
chr2	151363987	151363987	T	C	exonic	TNFAIP6	.	nonsynonymous SNV	TNFAIP6:NM_007115:exon2:c.T139C:p.Y47H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.611	0.0900216906981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.34	0.90961	M	2.48	0.14657	T	-4.57	0.78721	D	0.858	0.85449	-0.5289	0.67583	T	0.174	0.51753	T	10	0.9293065	0.92272	D	0.090022	0.75438	D	0.611	0.84773	0.788	0.91068	0.276482976112	0.27267	0.964103209716908	0.96397	1.02953252697	0.75381	0.709608197212	0.68536	T	0.18826	0.54211	T	0.248905	0.78500	D	0.119758	0.78220	D	0.997978746891022	0.92901	D	0.849215	0.53152	T	0.8802075	0.89684	0.8683413	0.92751	0.8802075	0.89685	0.8683413	0.92752	-9.291	0.69551	D	.	.	0.775	0.76152	P	.	.	4.818817	0.78469	26.9	0.99828046148392202	0.91026	0.95498	0.64960	D	ALL	0.886700	0.81831	D	0.898162527442995	0.91668	11.00231	0.79909335759734	0.89730	10.09701	1.0	0.98316	0.615465	0.37627	0	0.552344	0.17405	0	0.658983	0.55881	0	0.526803	0.08958	0	.	.	5.85	5.85	0.93663	7.380000	0.78983	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.0:0.0:1.0	16.228	0.82137	788	0.46569	Link domain|Link domain|Link domain|Link domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1317.63	34	chr2	151363987	.	T	C	1317.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.375;DP=309;ExcessHet=0;FS=2.199;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=2.24;SOR=0.914	GT:AD:DP:GQ:PL	0/1:76,58:134:99:1328,0,1801	6	0	1	0
chr2	151463112	151463112	A	G	exonic	RIF1	.	nonsynonymous SNV	RIF1:NM_001177665:exon29:c.A3592G:p.S1198G,RIF1:NM_001177663:exon30:c.A3592G:p.S1198G,RIF1:NM_001177664:exon30:c.A3592G:p.S1198G,RIF1:NM_018151:exon30:c.A3592G:p.S1198G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00885878008947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	0.025	0.56192	D	0.78	0.47373	P	0.197	0.43123	B	0.223040	0.16094	N	0.663418	0.970425	0.38797	D	2.175	0.60977	M	2.41	0.15492	T	-1.85	0.48687	N	0.127	0.13198	-1.1306	0.01754	T	0.045	0.19437	T	10	0.14974675	0.28334	T	0.008859	0.23366	T	0.043	0.11576	0.268	0.21576	0.481781477641	0.47810	0.18678258590997882	0.18596	0.0423657159161	0.04565	0.266589224339	0.05700	T	0.313786	0.68551	T	-0.262419	0.12619	T	-0.614723	0.11605	T	0.222624272108078	0.21594	T	0.70043	0.32487	T	0.046991285	0.07958	0.06824981	0.14226	0.046991285	0.07958	0.06824981	0.14226	-4.917	0.36082	T	.	.	0.081	0.08224	B	.;.;.;.;.	.;.;.;.;.	1.151373	0.15394	11.82	0.95579283886560129	0.27282	0.66018	0.32934	D	AEFGBCI	0.085154	0.17261	N	-0.369880657475236	0.26547	1.44972	-0.47969438963112	0.22713	1.235077	0.872414120066062	0.25445	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.78	3.59	0.40253	1.427000	0.34489	.	.	0.756000	0.94297	0.011000	0.18532	0.073000	0.22253	0.551000	0.30197	0.8527:0.0:0.0:0.1473	10.365	0.43200	806	0.43582	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1520.44	33	chr2	151463112	.	A	G	1520.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.814;DP=342;ExcessHet=0;FS=6.873;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=0.527;SOR=1.217	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1092	6	0	1	0
chr2	151680819	151680819	G	A	exonic	NEB	.	nonsynonymous SNV	NEB:NM_001164507:exon30:c.C2953T:p.R985C,NEB:NM_001164508:exon30:c.C2953T:p.R985C,NEB:NM_001271208:exon30:c.C2953T:p.R985C,NEB:NM_004543:exon30:c.C2953T:p.R985C	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	1960898	Nemaline_myopathy_2|not_provided	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.288	0.0812072471807	8.4e-05	.	3.313e-05	0	8.642e-05	0	0	4.496e-05	0	0	3.23e-05	5	154602	rs371287755	2.261e-05	2.531e-05	2.046e-05	2.479e-05	0.0002	1.613e-05	1.419e-05	1.546e-05	1.307e-05	5.983e-05	4.473e-05	0	0	0	0.0002	2.253e-05	3.317e-05	1.16e-05	1.315e-05	1.314e-05	1.286e-05	1.347e-05	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.265	0.90016	M	2.61	0.13204	T	-3.77	0.72594	D	0.767	0.84609	-0.7658	0.57088	T	0.150	0.47787	T	10	0.82114995	0.81318	D	0.081207	0.73632	D	0.288	0.60691	.	.	0.531825494424	0.52830	0.41226509748115936	0.41142	0.388573688024	0.40119	0.74605345726	0.73864	T	0.23033	0.90934	T	-0.0786487	0.39935	T	-0.194384	0.55178	T	0.991448938846588	0.81740	D	0.980402	0.97045	D	0.5279072	0.68712	0.44894215	0.67921	0.5279072	0.68713	0.44894215	0.67922	-12.026	0.84978	D	.	.	0.562	0.67310	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.207500	0.87374	29.2	0.99950436466448012	0.99938	0.94383	0.60991	D	AEFGBI	0.772670	0.70692	D	0.880097343837602	0.90750	10.54857	0.822830098246725	0.91332	10.83434	0.999999999825022	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.67	5.67	0.87673	3.590000	0.53726	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.548	0.91005	863	0.32847	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	676.44	84	chr2	151680819	.	G	A	676.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.701;DP=326;ExcessHet=0;FS=0.85;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.05;ReadPosRankSum=-2.233;SOR=0.541	GT:AD:DP:GQ:PL	0/0:76,0:76:99:0,112,1552	6	0	1	0
chr2	151724333	151724333	T	C	exonic	NEB	.	nonsynonymous SNV	NEB:NM_001164507:exon8:c.A539G:p.K180R,NEB:NM_001164508:exon8:c.A539G:p.K180R,NEB:NM_001271208:exon8:c.A539G:p.K180R,NEB:NM_004543:exon8:c.A539G:p.K180R	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	1	1504	16	1	0	18	0.00594845	.	.	.	195970	Nemaline_myopathy_2|Arthrogryposis_multiplex_congenita_6|not_provided|not_specified	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MONDO:MONDO:0030281,MedGen:C5543431,OMIM:619334|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.340	.	0.0002	0.00139776	0.0015	0	0.0003	0	0	0.0002	0	0.0104	0.0011255	174	154602	rs200719359	0.0007	0.0007	0.0004	0.0009	0.0086	0.0006	0.0006	0.0081	0.0079	5.978e-05	0.0004	3.832e-05	2.52e-05	0	0.0038	0.0001	0.0005	0.0086	0.0004	0.0004	0.0002	0.0006	0.0081	0.0003	0.0003	0.0061	0.0054	2.408e-05	0	0.0002	0	0.0002	0	0	0.0002	0	0.0081	0.082	0.33254	T	0.006	0.70582	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.953661	0.37841	D	1.04	0.26193	L	0.09	0.61443	T	-1.18	0.33798	N	0.551	0.58629	-0.6722	0.61729	T	0.265	0.63620	T	10	0.008422345	0.00191	T	.	.	.	0.340	0.66202	.	.	0.659639129211	0.65679	0.41065231655102347	0.40981	0.310185408663	0.33336	0.672708392143	0.63223	T	0.031629	0.47295	T	-0.334456	0.05781	T	-0.247226	0.50091	T	0.0483303558240865	0.05204	T	0.943906	0.78806	D	0.1762592	0.38529	0.2803727	0.54012	0.20324376	0.42395	0.25889754	0.51629	-5.85	0.45008	T	.	.	0.129	0.27493	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.360083	0.67034	25.0	0.99906942206846239	0.97726	0.97144	0.72948	D	AEFGBI	0.900325	0.84571	D	0.622822180551296	0.74620	6.163752	0.67920020457798	0.80802	7.380668	0.999999999999703	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	6.02	6.02	0.97559	7.599000	0.82008	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.203	0.81923	889	0.27310	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004028	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.007576	0.07143	662.53	61	chr2	151724333	.	T	C	662.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.793;DP=234;ExcessHet=0;FS=3.524;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=0.642;SOR=0.468	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1118	6	0	1	0
chr2	156571231	156571231	C	T	exonic	GPD2	.	nonsynonymous SNV	GPD2:NM_000408:exon13:c.C1706T:p.A569V,GPD2:NM_001083112:exon13:c.C1706T:p.A569V	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.014005459095	0.0002	.	0.0002	0.0002	0.0003	0	0	0.0003	0	0	0.0001552	24	154602	rs143509883	0.0001	0.0001	0.0001	0.0001	0.0014	9.102e-05	8.608e-05	0.0007	0.0005	8.973e-05	0.0003	0	0	0	0.0014	9.905e-05	0.0002	5.799e-05	0.0001	0.0001	0.0002	9.402e-05	0.0002	8.166e-05	6.722e-05	0.0001	0.0001	2.406e-05	0	6.546e-05	0	0	0	0.0034	0.0002	0	0	0.107	0.29554	T	0.293	0.22694	T	0.019	0.17989	B	0.036	0.22909	B	0.000000	0.84330	D	0.044858	1	0.81001	D	2.345	0.67358	M	1.0	0.41392	T	-2.71	0.57762	D	0.776	0.77789	-0.9886	0.32953	T	0.149	0.47575	T	10	0.46924427	0.59761	T	0.014005	0.33833	T	0.274	0.59007	.	.	0.518531843619	0.51497	0.7676859536522614	0.76717	0.264892400789	0.29045	0.800108850002	0.81978	T	0.379409	0.74216	T	-0.0362237	0.46508	T	0.006383	0.70749	D	0.187945380806923	0.19722	T	0.984602	0.94707	D	0.38741496	0.59848	0.42022732	0.65992	0.3766583	0.59074	0.4235512	0.66222	-7.747	0.59334	D	.	.	0.456	0.67677	A	.;.;.;.	.;.;.;.	3.588610	0.50628	23.0	0.99803535043791203	0.88817	0.98547	0.83953	D	AEFBI	0.893394	0.83130	D	0.281829447168909	0.55227	3.686934	0.462018140112217	0.65492	4.830694	0.999999999994756	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	6.06	6.06	0.98340	7.818000	0.84740	7.675000	0.64997	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	20.640	0.99540	871	0.31377	Alpha-glycerophosphate oxidase, C-terminal;Alpha-glycerophosphate oxidase, C-terminal;Alpha-glycerophosphate oxidase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	716.63	30	chr2	156571231	.	C	T	716.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.718;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=-1.242;SOR=0.756	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1022	6	0	1	0
chr2	157300796	157300796	G	C	exonic	GALNT5	.	nonsynonymous SNV	GALNT5:NM_014568:exon7:c.G2236C:p.V746L,GALNT5:NM_001329868:exon8:c.G826C:p.V276L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.0226965696406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.25355	T	0.379	0.16037	T	0.007	0.14184	B	0.004	0.10090	B	0.363794	0.13630	N	0.683467	0.881673	0.35764	D	-0.235	0.03917	N	-0.6	0.71662	T	-0.94	0.25118	N	0.191	0.20925	-0.8605	0.51227	T	0.165	0.50225	T	10	0.29929036	0.47482	T	0.022697	0.45612	T	0.108	0.30607	0.437	0.48993	0.690687513823	0.68803	0.8156125274880176	0.81517	0.112406469208	0.12689	0.460697472095	0.33406	T	0.004956	0.04374	T	-0.0992707	0.36546	T	-0.380372	0.35679	T	0.884763658046722	0.53503	D	0.881012	0.60027	D	0.1555269	0.35145	0.16437683	0.38081	0.1555269	0.35145	0.16437683	0.38080	-8.495	0.64396	D	.	.	0.290	0.52194	B	.	.	4.042985	0.59869	24.2	0.99122729470190019	0.53037	0.94066	0.60009	D	AEFBI	0.597577	0.59131	D	-0.155404768038086	0.35004	2.005231	0.0661507289367439	0.42860	2.599872	0.999957938740973	0.48110	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.39	4.31	0.50718	6.717000	0.74524	7.474000	0.59184	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0836:0.0:0.9164:0.0	14.688	0.68676	571	0.70397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1750.44	33	chr2	157300796	.	G	C	1750.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.04;DP=352;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=1.02;SOR=0.733	GT:AD:DP:GQ:PL	0/1:92,73:165:99:1761,0,2306	6	0	1	0
chr2	157321525	157321525	C	G	exonic	ERMN	.	nonsynonymous SNV	ERMN:NM_001304346:exon3:c.G541C:p.V181L,ERMN:NM_020711:exon3:c.G601C:p.V201L,ERMN:NM_001009959:exon4:c.G640C:p.V214L,ERMN:NM_001304344:exon4:c.G601C:p.V201L,ERMN:NM_001304345:exon4:c.G601C:p.V201L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.00202641819198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0035	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.206e-05	2.239e-05	0	7.6e-05	0	0	0.0002	0.0002	5.858e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.591	0.16134	T	0.753	0.43334	P	0.241	0.38645	B	0.000353	0.45440	D	0.096119	0.825017	0.28834	N	2.39	0.68882	M	.	.	.	-2.33	0.51646	N	0.32	0.63713	-1.0082	0.27479	T	0.064	0.26667	T	9	0.2529603	0.42657	T	0.002026	0.03668	T	0.194	0.47447	0.398	0.42590	0.449379577644	0.44558	0.335866359051135	0.33499	0.188691245063	0.21188	0.471151411533	0.34839	T	0.175291	0.52483	T	0.0512656	0.58505	T	-0.164137	0.57977	T	0.936455905437469	0.60547	D	0.767123	0.39577	T	0.19478427	0.41242	0.19957332	0.43846	0.19478427	0.41242	0.19957332	0.43845	-4.026	0.24787	T	.	.	0.610	0.71848	P	.;.;.	.;.;.	3.057320	0.41045	21.3	0.99387453982124174	0.62157	0.97238	0.73508	D	AEFDBI	0.448369	0.50363	N	0.192805104781322	0.50852	3.271494	0.289710337560756	0.54937	3.657473	0.999627476162613	0.41093	0.706298	0.61202	0	0.709663	0.81188	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.81	4.94	0.64645	2.554000	0.45507	4.885000	0.45705	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1418:0.7861:0.0:0.0721	9.504	0.38199	557	0.71576	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	163.08	99	chr2	157321525	.	C	G	163.08	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-3.132;DP=598;ExcessHet=0.3476;FS=496.34;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=0.608;SOR=9.401	GT:AD:DP:GQ:PL	./.:127,0:127:0:0,0,2160	3	0	2	2
chr2	157799450	157799450	G	C	exonic	ACVR1	.	nonsynonymous SNV	ACVR1:NM_001105:exon3:c.C44G:p.A15G,ACVR1:NM_001111067:exon3:c.C44G:p.A15G,ACVR1:NM_001347663:exon3:c.C44G:p.A15G,ACVR1:NM_001347664:exon4:c.C44G:p.A15G,ACVR1:NM_001347665:exon4:c.C44G:p.A15G,ACVR1:NM_001347666:exon4:c.C44G:p.A15G,ACVR1:NM_001347667:exon4:c.C44G:p.A15G	Fibrodysplasia ossificans progressiva, Autosomal dominant	6	1446	65	5	0	75	0.0252781	.	.	.	250305	not_provided|not_specified|Progressive_myositis_ossificans	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0007606,MedGen:C0016037,OMIM:135100,Orphanet:337	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.254	.	0.0062	0.00738818	0.0110	0.0006	0.0033	0	0.0054	0.0083	0.0231	0.0410	0.0100128	1548	154602	rs13406336	0.0088	0.0089	0.0076	0.0099	0.0404	0.0086	0.0086	0.0393	0.0389	0.0010	0.0036	0.0081	0.0001	0.0051	0.0207	0.0072	0.0090	0.0404	0.0067	0.0067	0.0064	0.0071	0.0320	0.0064	0.0062	0.0279	0.0263	0.0014	0	0.0076	0.0061	0.0002	0.0066	0.0345	0.0086	0.0048	0.0320	0.019	0.50132	D	0.134	0.34241	T	0.016	0.17332	B	0.007	0.12992	B	0.219181	0.16180	N	0.624103	0.908305	0.36344	D	0.55	0.14455	N	-2.99	0.92108	D	-0.77	0.74051	N	0.154	0.15888	-0.0828	0.80492	T	0.528	0.82472	D	10	0.004531741	0.00094	T	.	.	.	0.254	0.56428	.	.	.	.	0.3766281390763211	0.37576	0.692663828589	0.60675	0.430657148361	0.29298	T	0.487568	0.81357	T	-0.282024	0.10454	T	-0.147897	0.59429	T	0.0101925086234487	0.00138	T	0.719828	0.35417	T	0.067496	0.14622	0.0723129	0.15587	0.06910109	0.15112	0.10094586	0.24151	-4.456	0.30309	T	.	.	0.107	0.21840	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.674691	0.34877	19.75	0.99349011443502289	0.60493	0.90826	0.52333	D	AEFDBI	0.400668	0.47546	N	-0.0936229972742416	0.37671	2.195113	0.108813149421597	0.44998	2.770949	0.99999999925213	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	4.289000	0.58806	7.669000	0.64672	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:1.0:0.0	17.649	0.88060	811	0.42639	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020141	0.000000	0.009511	0.008772	0.000000	0.025862	0.021341	0.075758	0.08333	607.27	35	chr2	157799450	.	G	C	607.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.507;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=-1.088;SOR=0.646	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	5	0	1	1
chr2	159169357	159169357	G	A	exonic	TANC1	.	nonsynonymous SNV	TANC1:NM_001350063:exon7:c.G685A:p.A229T,TANC1:NM_033394:exon9:c.G1054A:p.A352T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.0124618557869	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1339057797	6.842e-07	1.368e-06	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.574	0.06106	T	0.863	0.03380	T	0.0	0.02946	B	0.001	0.04355	B	0.010168	0.30037	N	0.346933	0.830731	0.34914	D	-0.49	0.02651	N	-0.35	0.68616	T	0.08	0.06026	N	0.104	0.08786	-0.9640	0.38409	T	0.106	0.38734	T	10	0.09073472	0.15834	T	0.012462	0.31052	T	0.060	0.17295	0.277	0.23004	0.327686398923	0.32377	0.18348818264842498	0.18267	0.176319117618	0.19845	0.403667956591	0.25580	T	0.038165	0.24743	T	-0.238184	0.15581	T	-0.579912	0.14553	T	0.0583399049937725	0.06905	T	0.534247	0.17838	T	0.023949888	0.01180	0.03402012	0.02396	0.023949888	0.01180	0.03402012	0.02396	-4.621	0.32435	T	.	.	0.074	0.05103	B	.	.	1.413238	0.18288	13.65	0.80534793674113414	0.13249	0.61202	0.31416	D	ALL	0.202646	0.32922	N	-0.877942774812309	0.11369	0.5482625	-0.71443949065666	0.16602	0.879003	0.999999999470431	0.74766	0.714207	0.82060	0	0.588015	0.36545	0	0.658983	0.55881	0	0.616919	0.45865	0	.	.	5.54	1.7	0.23359	1.255000	0.32512	0.815000	0.21791	-0.721000	0.03806	0.904000	0.31524	0.965000	0.29475	0.140000	0.19946	0.2036:0.1229:0.6735:0.0	7.234	0.25232	645	0.63593	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	456.49	30	chr2	159169357	.	G	A	456.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.32;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-0.613;SOR=0.573	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1128	6	0	1	0
chr2	159350063	159350063	C	T	exonic	BAZ2B	.	nonsynonymous SNV	BAZ2B:NM_001289975:exon27:c.G4400A:p.S1467N,BAZ2B:NM_001329857:exon28:c.G4346A:p.S1449N,BAZ2B:NM_001329858:exon28:c.G4433A:p.S1478N,BAZ2B:NM_013450:exon28:c.G4508A:p.S1503N	.	431	977	111	3	0	117	0.0564944	.	.	.	719335	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.084	.	0.0019	0.00738818	0.0080	0.0003	0.0025	0.0002	0	0.0028	0.0167	0.0440	0.0069145	1069	154602	rs143966878	0.0045	0.0045	0.0029	0.0060	0.0460	0.0044	0.0043	0.0448	0.0443	0.0002	0.0023	0.0039	0.0001	7.488e-05	0.0279	0.0017	0.0054	0.0460	0.0030	0.0030	0.0023	0.0037	0.0456	0.0028	0.0027	0.0407	0.0388	0.0004	0	0.0031	0.0046	0.0002	9.418e-05	0.0136	0.0021	0.0052	0.0456	0.327	0.13262	T	0.439	0.13365	T	0.0	0.12183	B	0.001	0.06944	B	0.114738	0.19263	U	0.365080	0.994617	0.23480	N	1.01	0.25309	L	3.27	0.06602	T	-0.06	0.07882	N	0.109	0.09490	-0.9856	0.33687	T	0.010	0.03765	T	10	0.0018053651	0.00024	T	.	.	.	0.084	0.24469	.	.	0.15499578495	0.15088	0.2681369963440382	0.26726	0.0366816850506	0.03882	0.305863142014	0.11283	T	0.01094	0.09820	T	-0.687278	0.00043	T	-0.726423	0.04491	T	0.00321575579987019	0.00034	T	0.846915	0.52723	T	0.039753538	0.05547	0.044830933	0.05896	0.039753538	0.05546	0.044830933	0.05896	-3.934	0.22948	T	.	.	0.076	0.05890	B	.;.	.;.	2.952919	0.39297	20.9	0.91316774009537693	0.20578	0.71095	0.34867	D	AEFDGBCI	0.086729	0.17585	N	-0.306285464823662	0.28908	1.598527	-0.0733311059405021	0.36497	2.124746	0.999999826993591	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	4.99	0.65942	1.077000	0.30353	2.750000	0.34528	0.599000	0.40250	0.972000	0.34453	0.782000	0.26788	0.944000	0.48669	0.0:0.6678:0.1496:0.1827	6.597	0.21871	550	0.72197	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016616	0.000000	0.016304	0.014620	0.000000	0.008621	0.009146	0.049242	0.1429	5598.24	41	chr2	159350063	.	C	T	5598.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.861;DP=623;ExcessHet=0.3476;FS=0.529;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.271;SOR=0.764	GT:AD:DP:GQ:PL	0/1:139,115:254:99:2869,0,3620	5	0	2	0
chr2	159885282	159885282	C	A	exonic	LY75;LY75-CD302	.	nonsynonymous SNV	LY75-CD302:NM_001198759:exon6:c.G925T:p.A309S,LY75-CD302:NM_001198760:exon6:c.G925T:p.A309S,LY75:NM_002349:exon6:c.G925T:p.A309S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0251764340781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	0.13971	T	0.876	0.04168	T	0.075	0.24198	B	0.047	0.24832	B	0.084076	0.20717	N	0.252121	1	0.08975	N	-0.14	0.04484	N	0.63	0.53088	T	0.51	0.02945	N	0.166	0.18103	-1.0198	0.23780	T	0.034	0.14726	T	10	0.03737825	0.02089	T	0.025176	0.48158	D	0.041	0.10877	0.326	0.30873	0.0986583533028	0.09354	0.3361491059307356	0.34719	0.0478853256955	0.05220	.	.	.	0.018554	0.14935	T	-0.225243	0.17283	T	-0.561323	0.16252	T	0.163926362991333	0.18157	T	0.608739	0.23025	T	0.16355187	0.36505	0.0704292	0.14962	0.16355187	0.36505	0.0704292	0.14962	-2.533	0.06011	T	.	.	0.067	0.04159	B	.;.;.	.;.;.	0.464993	0.08349	5.097	0.73431280546152633	0.10325	0.02963	0.07801	N	AEFBI	0.038244	0.05383	N	-1.23102653126506	0.04556	0.2058557	-1.21887398515519	0.05606	0.2676236	6.04285500241317E-4	0.07437	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.77	-3.57	0.04316	-0.642000	0.05524	-1.519000	0.05257	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.962000	0.52141	0.2596:0.214:0.093:0.4335	1.606	0.02523	621	0.65931	.;.;C-type lectin-like|C-type lectin-like|C-type lectin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	475.83	33	chr2	159885282	.	C	A	475.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.534;DP=203;ExcessHet=0;FS=2.544;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-1.011;SOR=0.395	GT:AD:DP:GQ:PL	0/1:21,23:44:99:486,0,499	6	0	1	0
chr2	159894082	159894082	T	A	exonic	LY75;LY75-CD302	.	nonsynonymous SNV	LY75-CD302:NM_001198759:exon3:c.A469T:p.I157F,LY75-CD302:NM_001198760:exon3:c.A469T:p.I157F,LY75:NM_002349:exon3:c.A469T:p.I157F	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0201005319886	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1202865997	2.768e-06	2.736e-06	0	5.573e-06	3.607e-05	6.5e-07	4.4e-07	9.58e-06	4.66e-06	0	0	0	0	0	0	0	1.675e-05	3.607e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	0.004	0.74150	D	0.974	0.57829	D	0.646	0.52296	P	0.156857	0.17787	N	0.402115	0.999929	0.51308	D	2.96	0.85114	M	2.93	0.09822	T	-3.1	0.63554	D	0.536	0.62526	-1.1428	0.01257	T	0.058	0.24465	T	10	0.30999354	0.48481	T	0.020101	0.42623	T	0.219	0.51417	0.556	0.67409	0.255777322467	0.25185	0.9402113738113428	0.94002	0.0780515776832	0.08785	.	.	.	0.388859	0.74943	T	-0.187182	0.22672	T	-0.398994	0.33500	T	0.770462155342102	0.44467	D	0.842416	0.53011	T	0.37855422	0.59212	0.24628203	0.50134	0.37855422	0.59212	0.24628203	0.50133	-8.755	0.66106	D	.	.	0.136	0.40666	B	.;.;.	.;.;.	3.010685	0.40256	21.1	0.98399859598698547	0.41052	0.64990	0.32588	D	AEFGBCI	0.387430	0.46741	N	0.132933720203165	0.48004	3.018389	0.0440464444417981	0.41783	2.516189	0.999999381273231	0.74766	0.75658	0.98901	0	0.858454	0.99946	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.44	3.07	0.34476	0.317000	0.19235	0.956000	0.22957	0.665000	0.62972	0.668000	0.28331	0.998000	0.33993	0.901000	0.43729	0.0:0.2321:0.0:0.7679	8.912	0.34716	623	0.65786	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	165.63	33	chr2	159894082	.	T	A	165.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.052;DP=208;ExcessHet=0;FS=1.63;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.52;ReadPosRankSum=1.2;SOR=0.343	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1090	6	0	1	0
chr2	162268086	162268086	C	T	splicing	IFIH1	NM_022168:exon14:c.2807+1G>A	.	.	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	425	1072	24	1	0	26	0.0119816	1.0000	0.938	YES	516567	Immunodeficiency_95|Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|not_provided|IFIH1-related_disorder	MONDO:MONDO:0030692,MedGen:C5676929,OMIM:619773|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0054	0.0061901	0.0071	0.0014	0.0039	0.0026	0.0017	0.0083	0.0093	0.0133	0.0068563	1060	154602	rs35732034	0.0089	0.0089	0.0087	0.0090	0.0206	0.0087	0.0087	0.0194	0.0189	0.0013	0.0031	0.0105	0.0206	0.0020	0.0071	0.0090	0.0079	0.0118	0.0054	0.0054	0.0059	0.0049	0.0101	0.0051	0.0050	0.0079	0.0072	0.0015	0	0.0035	0.0084	0.0079	0.0018	0.0068	0.0080	0.0085	0.0101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123313	0.66703	D	0.414742	0.92577	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.421348	0.90701	31	0.99538050422870605	0.70336	0.99640	0.98249	D	AEFBI	.	.	.	1.11613391741329	0.98421	18.23353	0.94565821059137	0.97272	15.85643	0.999999999312529	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.063197	0.01477	0	0.092715	0.02821	0	0.978623	0.82860	4.74	4.74	0.59717	7.284000	0.78011	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.077	0.89359	405	0.82444	.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1044.46	33	chr2	162268086	.	C	T	1044.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.214;DP=270;ExcessHet=0;FS=0.85;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-1.124;SOR=0.555	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1368	6	0	1	0
chr2	162288184	162288184	T	C	exonic	IFIH1	.	nonsynonymous SNV	IFIH1:NM_022168:exon5:c.A1046G:p.K349R	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	423	1081	17	1	0	19	0.0087116	.	.	.	516633	Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|not_specified|Immunodeficiency_95|not_provided|IFIH1-related_disorder	MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MedGen:CN169374|MONDO:MONDO:0030692,MedGen:C5676929,OMIM:619773|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.039	.	0.0014	0.00319489	0.0035	0.0002	0.0012	0.0002	0	0.0013	0.0011	0.0197	0.0030918	478	154602	rs72650664	0.0026	0.0026	0.0021	0.0032	0.0198	0.0026	0.0025	0.0190	0.0187	0.0002	0.0010	0	0.0001	0	0.0056	0.0017	0.0026	0.0198	0.0018	0.0018	0.0016	0.0019	0.0213	0.0016	0.0015	0.0180	0.0167	0.0004	0	0.0025	0	0	9.42e-05	0.0068	0.0016	0.0005	0.0213	0.318	0.13654	T	0.442	0.13252	T	0.345	0.33546	B	0.195	0.36592	B	0.000439	0.44522	D	0.283615	0.862363	0.35411	D	0.435	0.12660	N	0.59	0.53943	T	-0.88	0.23808	N	0.187	0.20395	-0.8860	0.49273	T	0.117	0.41275	T	10	0.0059061646	0.00132	T	.	.	.	0.039	0.10176	.	.	0.713835922619	0.71132	0.2978720611958331	0.29700	0.0240516948503	0.02442	0.348664283752	0.17725	T	0.07048	0.33971	T	-0.463956	0.00928	T	-0.424281	0.30586	T	0.019399027718068	0.00645	T	0.740726	0.36032	T	0.15416744	0.34909	0.24077097	0.49458	0.21934694	0.44464	0.27207413	0.53114	-5.922	0.45622	T	0.1792702559365503	0.23016	0.070	0.04932	B	.;.;.	.;.;.	2.599599	0.33743	19.43	0.99713461923194302	0.81493	0.87483	0.47037	D	AEFBI	0.340597	0.43736	N	0.0140602945220666	0.42495	2.561443	0.202967507889714	0.50013	3.197745	0.999781443330021	0.43007	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.96	5.96	0.96695	2.325000	0.43499	1.945000	0.29852	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.445	0.83760	594	0.68584	Helicase/UvrB, N-terminal|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;Helicase/UvrB, N-terminal|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.002717	0.005848	0.000000	0.000000	0.003049	0.018939	0.07143	1355.46	36	chr2	162288184	.	T	C	1355.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.786;DP=289;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-1.012;SOR=0.65	GT:AD:DP:GQ:PL	0/1:57,60:117:99:1366,0,1315	6	0	1	0
chr2	162318079	162318079	G	A	exonic	IFIH1	.	nonsynonymous SNV	IFIH1:NM_022168:exon1:c.C229T:p.R77W	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	425	1088	9	0	0	9	0.00411899	.	.	.	690840	IFIH1-related_disorder|Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|Basal_ganglia_calcification,_idiopathic,_childhood-onset|not_provided	.|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MONDO:MONDO:0007247,MedGen:C1861967,OMIM:114100,Orphanet:51|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.064	0.0202241411949	0.0004	0.000998403	0.0008	0	0	0.0030	0	0.0008	0	0.0013	0.0007438	115	154602	rs147278787	0.0007	0.0007	0.0006	0.0007	0.0028	0.0006	0.0006	0.0024	0.0023	5.974e-05	4.472e-05	0	0.0028	5.618e-05	0.0014	0.0006	0.0007	0.0012	0.0004	0.0004	0.0004	0.0004	0.0021	0.0003	0.0003	0.0012	0.0009	4.811e-05	0	0	0	0.0021	0	0	0.0006	0	0.0010	0.002	0.72154	D	0.002	0.79402	D	0.998	0.73220	D	0.72	0.55529	P	0.106257	0.19623	N	0.527045	1	0.08975	N	2.74	0.80084	M	3.41	0.05574	T	-2.2	0.76496	N	0.318	0.35832	-1.0852	0.06371	T	0.031	0.13242	T	10	0.0058715343	0.00131	T	0.020224	0.42769	T	0.064	0.18567	.	.	0.610390267789	0.60725	0.5014091761855959	0.50062	0.140614320253	0.15858	0.290052473545	0.08930	T	0.245722	0.61507	T	-0.490527	0.00645	T	-0.47949	0.24501	T	0.10718718500282	0.13129	T	0.858314	0.58582	D	0.11100291	0.26234	0.09653028	0.22940	0.11100291	0.26233	0.09653028	0.22939	-7.691	0.58945	D	0.2342744088711641	0.31715	0.139	0.35056	B	.;.;.;.	.;.;.;.	2.152980	0.27425	17.46	0.99858909068011814	0.93729	0.08574	0.14484	N	AEFDGBHCI	0.155917	0.28119	N	-0.209086342422667	0.32760	1.851202	-0.409202670556046	0.24727	1.355694	0.999999969020962	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.71	0.69187	0	.	.	5.43	0.562	0.16476	-0.060000	0.11669	0.359000	0.17556	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.310000	0.24737	0.0721:0.0802:0.6214:0.2263	8.820	0.34182	547	0.72440	Caspase recruitment domain;Caspase recruitment domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.07143	2681.46	34	chr2	162318079	.	G	A	2681.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.027;DP=361;ExcessHet=0;FS=8.385;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=1.18;SOR=0.538	GT:AD:DP:GQ:PL	0/1:82,107:189:99:2692,0,1913	6	0	1	0
chr2	165749842	165749842	A	G	exonic	GALNT3	.	nonsynonymous SNV	GALNT3:NM_004482:exon10:c.T1679C:p.L560S	Tumoral calcinosis, hyperphosphatemic, familial, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.754	0.0806947660902	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs760159041	1.369e-06	1.368e-06	2.723e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.176	0.29843	T	0.972	0.57405	D	0.944	0.68059	D	0.001328	0.39379	N	0.162257	0.999985	0.54805	D	2.62	0.76659	M	-1.22	0.78752	T	-2.27	0.61435	N	0.938	0.94432	0.159	0.85213	D	0.595	0.85521	D	10	0.8976558	0.89122	D	0.080695	0.73516	D	0.754	0.91583	0.722	0.85673	0.951257296136	0.95074	0.8751063571419188	0.87477	0.565768227307	0.52901	0.696317076683	0.66612	T	0.256769	0.62771	T	0.380505	0.88741	D	0.308792	0.88598	D	0.882556869007549	0.53267	D	0.89921	0.65830	D	0.59613127	0.72483	0.6282408	0.78321	0.59613127	0.72484	0.6282408	0.78322	-8.659	0.65478	D	0.29733304511887804	0.39443	0.8	0.77283	P	.;.	.;.	4.788073	0.77679	26.7	0.99820925219271395	0.90414	0.99112	0.91402	D	AEBI	0.938558	0.93793	D	0.766766462176006	0.83991	8.16494	0.747275697462861	0.85955	8.736909	0.999999993498008	0.74766	0.67177	0.52595	0	0.670034	0.63936	0	0.702456	0.68683	0	0.620846	0.47308	0	.	.	5.29	5.29	0.74430	9.321000	0.95528	11.221000	0.89777	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.229	0.73066	679	0.60090	Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain|Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr2	165749842	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1168	6	1	0	0
chr2	166204084	166204084	A	G	exonic	SCN9A	.	nonsynonymous SNV	SCN9A:NM_001365536:exon26:c.T4645C:p.W1549R,SCN9A:NM_002977:exon26:c.T4612C:p.W1538R	Epilepsy, generalized, with febrile seizures plus, type 7, Autosomal dominant;Erythermalgia, primary, Autosomal dominant;Febrile seizures, familial, 3B, Autosomal dominant;HSAN2D, autosomal recessive, Autosomal recessive;Insensitivity to pain, congenital, Autosomal recessive;Paroxysmal extreme pain disorder,, Autosomal dominant;Small fiber neuropathy, Autosomal dominant	7	1506	9	0	0	9	0.00297915	.	.	.	231504	Inborn_genetic_diseases|Primary_erythromelalgia|Channelopathy-associated_congenital_insensitivity_to_pain,_autosomal_recessive|Paroxysmal_extreme_pain_disorder|not_provided|SCN9A-related_disorder|not_specified|Generalized_epilepsy_with_febrile_seizures_plus,_type_7|Neuropathy,_hereditary_sensory_and_autonomic,_type_2A	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020,Orphanet:306577,Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000,Orphanet:88642,Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400,Orphanet:46348|MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863,Orphanet:36387|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.633	0.124337804745	0.0023	0.000599042	0.0021	0.0002	0.0020	0.0001	0	0.0019	0.0011	0.0060	0.0019469	301	154602	rs202084411	0.0024	0.0024	0.0022	0.0026	0.0057	0.0024	0.0023	0.0053	0.0051	0.0004	0.0015	0.0014	2.526e-05	0.0002	0.0026	0.0025	0.0024	0.0057	0.0019	0.0019	0.0019	0.0019	0.0054	0.0017	0.0016	0.0038	0.0032	0.0004	0	0.0010	0.0014	0	0.0003	0.0068	0.0031	0.0024	0.0054	0.916	0.02332	T	0.36	0.16964	T	.	.	.	.	.	.	0.000001	0.62929	D	0.000000	0.999997	0.58761	D	0.81	0.20779	L	-4.93	0.98390	D	-3.68	0.70314	D	0.825	0.84505	0.437	0.89648	D	0.791	0.92920	D	10	0.015026212	0.00315	T	0.124338	0.80566	D	0.633	0.85924	0.648	0.78542	0.720224912349	0.71775	0.7174858508817855	0.71691	0.241215560065	0.26645	0.744670212269	0.73660	T	0.724213	0.92229	D	0.115727	0.65940	D	0.394962	0.91947	D	0.0217969748431823	0.00885	T	0.611839	0.23533	T	0.6030176	0.72853	0.5107299	0.71726	0.7827075	0.82822	0.5791294	0.75610	-4.523	0.31188	T	0.16228039651854312	0.19923	0.332	0.58334	B	.;.;.;.;.;.	.;.;.;.;.;.	2.526025	0.32649	19.11	0.79483268267518548	0.12762	0.94642	0.61835	D	AEFGBI	0.656645	0.62856	D	-0.553708862505648	0.20368	1.073169	-0.387913692498001	0.25355	1.393937	0.999517065783653	0.40117	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.47	4.47	0.53770	4.175000	0.58057	3.618000	0.39276	0.756000	0.94297	1.000000	0.71638	0.991000	0.31484	0.785000	0.37106	1.0:0.0:0.0:0.0	14.060	0.64316	340	0.86005	.;Ion transport domain;.;Ion transport domain;Ion transport domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006546	0.010101	0.004076	0.002924	0.000000	0.008621	0.000000	0.015152	0.07143	663.49	35	chr2	166204084	.	A	G	663.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.517;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.99;ReadPosRankSum=1.09;SOR=0.671	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1182	6	0	1	0
chr2	166226650	166226650	C	T	exonic	SCN9A	.	nonsynonymous SNV	SCN9A:NM_001365536:exon24:c.G4315A:p.V1439I,SCN9A:NM_002977:exon24:c.G4282A:p.V1428I	Epilepsy, generalized, with febrile seizures plus, type 7, Autosomal dominant;Erythermalgia, primary, Autosomal dominant;Febrile seizures, familial, 3B, Autosomal dominant;HSAN2D, autosomal recessive, Autosomal recessive;Insensitivity to pain, congenital, Autosomal recessive;Paroxysmal extreme pain disorder,, Autosomal dominant;Small fiber neuropathy, Autosomal dominant	37	1465	19	1	0	21	0.00711623	.	.	.	272066	Small_fiber_neuropathy|Paroxysmal_extreme_pain_disorder|not_specified|not_provided|Inborn_genetic_diseases|Primary_erythromelalgia|Channelopathy-associated_congenital_insensitivity_to_pain,_autosomal_recessive|Generalized_epilepsy_with_febrile_seizures_plus,_type_7|Neuropathy,_hereditary_sensory_and_autonomic,_type_2A	MONDO:MONDO:0800207,MedGen:C3276706|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400,Orphanet:46348|MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020,Orphanet:306577,Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000,Orphanet:88642,Orphanet:970|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863,Orphanet:36387|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.340	0.0263080013834	0.0006	0.000998403	0.0023	0.0002	0.0006	0	0	0.0029	0.0018	0.0041	0.0012354	191	154602	rs149346064	0.0010	0.0010	0.0008	0.0011	0.0121	0.0009	0.0009	0.0098	0.0089	0.0001	0.0006	0.0195	0.0002	3.798e-05	0.0121	0.0004	0.0019	0.0031	0.0011	0.0011	0.0011	0.0011	0.0037	0.0010	0.0009	0.0024	0.0020	0.0002	0	0.0007	0.0213	0.0002	0	0.0102	0.0006	0.0033	0.0037	1.0	0.68238	T	1.0	0.01155	T	.	.	.	.	.	.	0.000047	0.53742	N	0.067864	0.99991	0.20333	N	-0.875	0.01443	N	-4.89	0.98525	D	0.37	0.24898	N	0.285	0.33140	-0.1360	0.79261	T	0.637	0.87309	D	10	0.010564268	0.00235	T	0.026308	0.49226	D	0.340	0.66202	.	.	0.344483371355	0.34058	0.3135336108123332	0.31266	0.092802932358	0.10482	0.554708898067	0.46521	T	0.426386	0.77620	T	-0.238501	0.15540	T	-0.118732	0.61906	T	0.00445046772305555	0.00048	T	0.319468	0.06419	T	0.05783055	0.11560	0.05226094	0.08575	0.056004915	0.10961	0.040498007	0.04389	-1.806	0.02551	T	0.061366912713807786	0.01748	0.054	0.05317	B	.;.;.;.;.;.	.;.;.;.;.;.	1.796180	0.22833	15.78	0.60049487544194091	0.06369	0.29948	0.23955	N	AEFI	0.111530	0.22079	N	-0.862968006315534	0.11732	0.5678155	-0.565929292937845	0.20383	1.097976	0.225337927204458	0.18403	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.46	4.3	0.50540	1.430000	0.34522	0.944000	0.22874	-0.796000	0.03208	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.2978:0.0:0.7022	6.375	0.20705	289	0.88525	.;Ion transport domain;.;Ion transport domain;Ion transport domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003528	0.000000	0.006793	0.005882	0.000000	0.008621	0.000000	0.000000	0.07143	1285.44	34	chr2	166226650	.	C	T	1285.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.222;DP=294;ExcessHet=0;FS=4.726;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-0.557;SOR=0.563	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1104	6	0	1	0
chr2	166416783	166416783	T	G	exonic	SCN7A	.	nonsynonymous SNV	SCN7A:NM_002976:exon21:c.A3338C:p.N1113T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.0708748144272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.535	0.06913	T	0.694	0.05844	T	0.018	0.17786	B	0.023	0.19966	B	0.018368	0.27499	N	0.266752	0.999689	0.20694	N	0.475	0.13142	N	-4.89	0.98313	D	-0.37	0.13226	N	0.568	0.59138	-0.0301	0.81628	T	0.763	0.91922	D	10	0.15682095	0.29527	T	0.070875	0.71119	D	0.328	0.65026	0.288	0.24761	0.751694653358	0.74944	0.29979668720139063	0.29892	0.131538057239	0.14834	0.491269052029	0.37615	T	0.577513	0.86112	D	0.0315856	0.55935	T	-0.192406	0.55365	T	0.119034133851528	0.14335	T	0.544146	0.18565	T	0.075715765	0.17078	0.06796038	0.14129	0.075715765	0.17077	0.06796038	0.14129	-4.542	0.31434	T	.	.	0.157	0.34624	B	.;.;.;.;.	.;.;.;.;.	2.141509	0.27274	17.41	0.74733894963634362	0.10806	0.42773	0.26952	N	AEFI	0.382126	0.46413	N	-0.69218082796424	0.16242	0.8258502	-0.566334401418746	0.20373	1.097364	0.00277259170587558	0.09698	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.87	3.69	0.41483	0.515000	0.22507	2.864000	0.35221	0.660000	0.55035	0.045000	0.21207	1.000000	0.68203	0.349000	0.25636	0.0:0.0912:0.0:0.9088	8.897	0.34629	631	0.64944	Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	935.63	33	chr2	166416783	.	T	G	935.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.279;DP=290;ExcessHet=0;FS=3.58;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8;ReadPosRankSum=-1.413;SOR=0.428	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1169	6	0	1	0
chr2	166457049	166457049	T	C	exonic	SCN7A	.	nonsynonymous SNV	SCN7A:NM_002976:exon11:c.A1111G:p.M371V	.	445	1074	3	0	0	3	0.0013947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.684	0.0373498822132	0.0002	.	0.0003	0.0001	0.0004	0	0.0002	0.0001	0	0.0010	0.0002264	35	154602	rs200600632	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0006	0.0005	0	0.0003	3.841e-05	0	1.916e-05	0.0005	0.0001	0.0002	0.0007	0.0001	0.0001	0.0001	0.0001	0.0002	8.175e-05	6.73e-05	0.0002	0.0001	0	0	0.0001	0	0	0	0	0.0002	0	0	0.0	0.91255	D	0.079	0.79402	T	0.028	0.19712	B	0.037	0.23121	B	0.000004	0.62929	D	0.000000	0.736478	0.33775	D	1.675	0.43121	L	-4.88	0.98296	D	-3.11	0.70674	D	0.64	0.66443	0.828	0.94761	D	0.852	0.95049	D	10	0.39980024	0.55486	T	0.03735	0.57560	D	0.684	0.88443	.	.	0.751018391696	0.74877	0.3395786305824434	0.33870	0.0383258984852	0.04077	0.505364060402	0.39575	T	0.723505	0.92204	D	0.104165	0.64739	D	0.297588	0.88084	D	0.117320999090349	0.14165	T	0.941706	0.78221	D	0.7824525	0.82804	0.7647114	0.86101	0.7824525	0.82806	0.7647114	0.86102	-7.592	0.58255	D	.	.	0.131	0.33342	B	.;.;.;.;.;.	.;.;.;.;.;.	3.456896	0.48158	22.6	0.929820918576723	0.22565	0.94672	0.61935	D	AEFI	0.759355	0.69771	D	-0.15784374949064	0.34902	1.998083	-0.0226557480512399	0.38693	2.283355	0.11245047166652	0.16684	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.35	4.18	0.48473	4.203000	0.58251	1.489000	0.26876	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.915000	0.45038	0.0:0.0859:0.0:0.914	9.622	0.38889	557	0.71576	Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	586.63	78	chr2	166457049	.	T	C	586.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.728;DP=258;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.52;ReadPosRankSum=0.486;SOR=0.641	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	6	0	1	0
chr2	167869136	167869136	A	C	exonic	B3GALT1	.	nonsynonymous SNV	B3GALT1:NM_020981:exon5:c.A97C:p.T33P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.00648494040856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.20456	T	0.233	0.24913	T	0.0	0.02946	B	0.0	0.01387	B	0.006649	0.31890	N	0.336804	0.869987	0.35544	D	0.55	0.14455	N	1.12	0.38718	T	-0.23	0.10656	N	0.335	0.37613	-1.0355	0.18700	T	0.068	0.27947	T	10	0.13763586	0.26181	T	0.006485	0.17072	T	0.268	0.58254	0.257	0.19845	0.57433219186	0.57101	0.5847990694526424	0.58409	0.609113261058	0.55654	0.39185488224	0.23931	T	0.034598	0.23385	T	-0.0449639	0.45210	T	-0.302364	0.44475	T	0.158411011099815	0.17753	T	0.734227	0.35027	T	0.07100749	0.15689	0.14804015	0.35010	0.07100749	0.15688	0.14804015	0.35010	-3.488	0.16265	T	.	.	0.075	0.05579	B	.	.	2.552317	0.33039	19.22	0.97708482696457299	0.35483	0.90637	0.51979	D	AEFDBCI	0.805088	0.72977	D	-0.276094244565156	0.30075	1.673572	-0.0924912224609213	0.35700	2.068486	0.410756286967505	0.20210	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.75	3.0	0.33773	3.299000	0.51533	5.110000	0.47506	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.7092:0.0:0.0:0.2908	11.454	0.49412	753	0.51500	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1696.45	131	chr2	167869136	.	A	C	1696.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.321;DP=313;ExcessHet=0;FS=0.65;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.669;SOR=0.595	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1130	6	0	1	0
chr2	169081538	169081538	T	C	exonic	DHRS9	.	nonsynonymous SNV	DHRS9:NM_001289763:exon2:c.T137C:p.V46A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0167040000187	.	.	9.121e-06	0	0	0	0	1.594e-05	0	0	1.29e-05	2	154602	rs770757052	2.106e-05	2.121e-05	2.09e-05	2.123e-05	0.0005	1.494e-05	1.297e-05	0.0001	7.851e-05	0	0	0	0	0	0.0005	2.186e-05	5.114e-05	0	1.314e-05	1.313e-05	2.57e-05	0	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.203	0.20154	T	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.89	0.84557	D	0.05	0.06369	N	0.187	0.20395	-0.9017	0.47814	T	0.276	0.64794	T	8	0.08540282	0.14414	T	0.016704	0.38080	T	0.069	0.20116	.	.	0.44143026662	0.43763	0.15964950293588814	0.15885	.	.	.	.	.	.	.	.	-0.186432	0.22784	T	-0.480393	0.24405	T	0.0334889292386855	0.02553	T	0.209279	0.02517	T	.	.	.	.	.	.	.	.	-3.426	0.15408	T	.	.	0.102	0.18206	B	.	.	0.762212	0.11320	7.941	0.9106300805362012	0.20315	0.26263	0.22942	N	AEFBHI	0.061879	0.11859	N	-0.897973175855878	0.10890	0.523	-0.924379179256222	0.11520	0.5873436	0.756245833727345	0.23438	0.553676	0.25195	0	0.547309	0.14657	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.79	-1.09	0.09397	0.344000	0.19703	0.379000	0.17760	0.665000	0.62972	0.021000	0.19753	0.000000	0.08366	0.360000	0.25886	0.1244:0.2766:0.129:0.47	1.779	0.02844	832	0.38914	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	941.53	55	chr2	169081538	.	T	C	941.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.64;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.12;ReadPosRankSum=-1.287;SOR=0.748	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1143	6	0	1	0
chr2	169176579	169176579	G	A	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon54:c.C10403T:p.P3468L	Donnai-Barrow syndrome, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	284981	Donnai-Barrow_syndrome|not_provided|not_specified	MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.638	.	0.0083	0.00838658	0.0023	0.0229	0.0013	0	0	0.0003	0.0022	6.064e-05	0.0022315	345	154602	rs143367996	0.0009	0.0009	0.0010	0.0008	0.0234	0.0009	0.0008	0.0221	0.0215	0.0234	0.0021	0.0016	0	0	0.0031	0.0002	0.0023	1.159e-05	0.0068	0.0068	0.0068	0.0068	0.0222	0.0065	0.0063	0.0211	0.0206	0.0222	0	0.0051	0.0020	0	0	0	0.0003	0.0047	0	0.002	0.72154	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	N	0.051885	1	0.81001	D	2.87	0.83286	M	-2.88	0.91533	D	-9.59	0.98518	D	0.511	0.54234	0.410	0.89246	D	0.653	0.87935	D	10	0.013441622	0.00285	T	.	.	.	0.638	0.86181	.	.	0.753637362212	0.75140	0.7350453244680187	0.73449	0.397400957687	0.40830	0.640598416328	0.58649	T	0.454	0.79348	T	-0.215233	0.18649	T	-0.06302	0.66121	T	0.098560745446504	0.12198	T	0.955004	0.82846	D	0.72298986	0.79328	0.62512904	0.78150	0.77447104	0.82318	0.6009543	0.76817	-7.491	0.57547	T	0.4589954508175662	0.54149	0.203	0.42735	B	.;.	.;.	3.845395	0.55667	23.6	0.99880436303772868	0.95653	0.98758	0.86475	D	AEFBI	0.926888	0.90870	D	0.69066914088481	0.79022	6.990556	0.659267841612218	0.79303	7.053905	0.999994404479247	0.74766	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.86	4.99	0.65942	8.148000	0.89561	9.939000	0.82641	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0693:0.0:0.9307:0.0	14.724	0.68945	899	0.25060	EGF-like domain;EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.010101	0.010870	0.008772	0.000000	0.000000	0.000000	0.000000	0.07143	1333.63	45	chr2	169176579	.	G	A	1333.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.3;DP=363;ExcessHet=0;FS=7.818;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=-0.678;SOR=1.299	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	6	0	1	0
chr2	169225440	169225440	C	T	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon33:c.G5408A:p.R1803K	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1437881	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.497	0.0846820825563	.	.	3.297e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs750182031	1.916e-05	1.915e-05	1.089e-05	2.75e-05	0.0003	1.328e-05	1.144e-05	0.0002	0.0002	0	0	0	0	0	0	0	1.656e-05	0.0003	6.57e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.375	0.11370	T	0.321	0.19073	T	0.914	0.50529	P	0.45	0.46092	P	0.000000	0.84330	D	0.090226	1	0.81001	D	2.25	0.63811	M	-2.91	0.91696	D	-1.29	0.32387	N	0.388	0.42931	0.309	0.87694	D	0.719	0.90364	D	10	0.3028852	0.47823	T	0.084682	0.74376	D	0.497	0.78163	0.435	0.48664	0.756063168228	0.75384	0.9086752229041608	0.90841	0.383503995499	0.39674	0.606099903584	0.53766	T	0.147323	0.48536	T	-0.123286	0.32588	T	-0.140569	0.60069	T	0.255292941218448	0.23108	T	0.763624	0.39028	T	0.32728723	0.55248	0.38671166	0.63556	0.32728723	0.55248	0.38671166	0.63556	-8.099	0.61744	D	0.4497003714453352	0.53373	0.154	0.34138	B	.;.	.;.	3.682788	0.52433	23.2	0.97105385960870638	0.32387	0.94208	0.60442	D	AEFHCI	0.842543	0.75965	D	0.442063552687145	0.63752	4.615339	0.519633650005015	0.69311	5.342473	0.999999999999936	0.74766	0.533608	0.22052	0	0.573888	0.26702	0	0.685742	0.62368	0	0.542086	0.14980	0	.	.	5.69	5.69	0.88346	6.175000	0.71875	5.917000	0.51107	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.810	0.96539	871	0.31377	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	352.63	29	chr2	169225440	.	C	T	352.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.375;DP=159;ExcessHet=0;FS=3.834;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.33;ReadPosRankSum=0.093;SOR=1.015	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1150	6	0	1	0
chr2	170519453	170519453	T	C	exonic	MYO3B	.	nonsynonymous SNV	MYO3B:NM_001083615:exon29:c.T3407C:p.V1136A,MYO3B:NM_138995:exon30:c.T3488C:p.V1163A	.	.	.	.	.	.	.	.	.	.	.	3329254	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.109	0.0195495175955	.	0.000199681	4.997e-05	0	0	0	0	4.512e-05	0	0.0002	4.53e-05	7	154602	rs187423481	3.763e-05	3.831e-05	2.723e-05	4.814e-05	0.0004	2.96e-05	2.656e-05	0.0003	0.0002	0	2.236e-05	0	0	0	0.0002	1.979e-05	0	0.0004	3.945e-05	3.938e-05	2.572e-05	5.381e-05	0.0002	1.716e-05	1.13e-05	2.847e-05	1.859e-05	0	0	0	0	0	0	0	7.353e-05	0	0.0002	0.796	0.04417	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.025307	0.01627	U	2.832850	1	0.08975	N	-0.345	0.03330	N	-1.04	0.77466	T	-0.62	0.22727	N	0.079	0.05414	-0.9576	0.39626	T	0.174	0.51658	T	10	0.035849035	0.01854	T	0.01955	0.41941	T	0.109	0.30843	.	.	0.386721274199	0.38283	0.2021045555876482	0.20127	0.0891482225439	0.10076	0.24148324132	0.02925	T	0.018427	0.14860	T	-0.460675	0.00974	T	-0.603312	0.12534	T	0.0262950101832226	0.01445	T	0.210779	0.03235	T	0.028700884	0.02247	0.026615452	0.00760	0.028700884	0.02247	0.026615452	0.00760	-3.07	0.10954	T	.	.	0.084	0.09917	B	.;.	.;.	-0.462446	0.01991	0.175	0.4689628433219869	0.03792	0.01225	0.04340	N	AEFBI	0.036841	0.04973	N	-1.54763097249432	0.01548	0.06763566	-1.57277398420015	0.01824	0.08307152	0.00104125636039715	0.08159	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.46	-2.21	0.06581	0.008000	0.13095	0.778000	0.21455	-0.906000	0.02296	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1887:0.3411:0.0:0.4702	3.15	0.06095	294	0.88270	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	930.49	35	chr2	170519453	.	T	C	930.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.46;DP=283;ExcessHet=0;FS=2.586;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=0.118;SOR=0.443	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1287	6	0	1	0
chr2	171434679	171434679	C	T	exonic	DCAF17;METTL8	.	startloss	METTL8:NM_001321157:exon1:c.G3A:p.M1?,METTL8:NM_001321158:exon1:c.G3A:p.M1?,METTL8:NM_001321161:exon1:c.G3A:p.M1?	.	2	1518	2	0	0	2	0.000658328	.	.	.	2134296	Woodhouse-Sakati_syndrome	MONDO:MONDO:0009419,MedGen:C0342286,OMIM:241080,Orphanet:3464	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0030	0	0	0	0	0	0.0083	0.0050	0.0003687	57	154602	rs369447743	0.0002	0.0002	0.0001	0.0003	0.0039	0.0002	0.0002	0.0035	0.0034	0	0	0	0	0	0	5.614e-06	0.0002	0.0039	0.0001	0.0001	5.143e-05	0.0002	0.0031	6.51e-05	5.321e-05	0.0019	0.0015	2.407e-05	0	0	0	0	0	0	0	0	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	251.49	23	chr2	171434679	.	C	T	251.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.841;DP=153;ExcessHet=0;FS=1.52;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=-2.209;SOR=1.123	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1015	6	0	1	0
chr2	172489575	172489575	C	A	exonic	ITGA6	.	nonsynonymous SNV	ITGA6:NM_000210:exon20:c.C2596A:p.L866I,ITGA6:NM_001079818:exon20:c.C2596A:p.L866I,ITGA6:NM_001316306:exon20:c.C2239A:p.L747I,ITGA6:NM_001365529:exon20:c.C2596A:p.L866I,ITGA6:NM_001365530:exon20:c.C2596A:p.L866I	Epidermolysis bullosa, junctional, with pyloric stenosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.173525521881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.035	0.86516	M	-0.35	0.68616	T	-1.74	0.42575	N	0.695	0.74189	0.315	0.87800	D	0.578	0.84814	D	10	0.8898805	0.88327	D	0.173526	0.85019	D	0.534	0.80426	0.801	0.92017	0.735039906021	0.73267	0.6486373299748902	0.64799	1.05880365382	0.76406	0.390574336052	0.23751	T	0.240306	0.60861	T	0.194896	0.73415	D	0.0421777	0.73069	D	0.949669599533081	0.63164	D	0.937106	0.78847	D	0.61092716	0.73277	0.57173496	0.75198	0.61092716	0.73279	0.57173496	0.75199	-10.779	0.80861	D	.	.	0.417	0.66299	A	.;.;.;.;.	.;.;.;.;.	4.639073	0.73833	26.1	0.99651765157689032	0.77317	0.98255	0.80978	D	AEFBI	0.689292	0.65001	D	0.839147576965485	0.88482	9.594867	0.777740848052162	0.88208	9.496279	0.999999734878497	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	4.713000	0.61585	7.642000	0.63248	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.108	0.93289	764	0.49969	.;.;Integrin alpha-2;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	544.45	34	chr2	172489575	.	C	A	544.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.215;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=0.196;SOR=0.77	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1075	6	0	1	0
chr2	172593029	172593029	A	G	exonic	PDK1	.	nonsynonymous SNV	PDK1:NM_002610:exon10:c.A1151G:p.D384G,PDK1:NM_001278549:exon11:c.A1211G:p.D404G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.786	0.1004015304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.004	0.74150	D	0.999	0.77913	D	0.984	0.76113	D	0.000002	0.62929	D	0.131004	1	0.81001	D	3.645	0.94141	H	0.53	0.55090	T	-6.37	0.91058	D	0.912	0.92784	0.242	0.86605	D	0.480	0.80134	T	10	0.9031973	0.89683	D	0.100402	0.77265	D	0.786	0.92908	0.73	0.86373	0.882142282459	0.88098	0.9433952369792596	0.94321	1.08704428983	0.77318	0.812948703766	0.83945	D	0.590919	0.86747	D	0.35753	0.87061	D	0.27579	0.86892	D	0.998931109905243	0.95630	D	0.988526	0.96056	D	0.9048802	0.91823	0.9133979	0.95930	0.9048802	0.91824	0.9133979	0.95930	-9.438	0.70473	D	.	.	0.781	0.78240	P	.;.;.	.;.;.	5.386566	0.90253	31	0.99859893920479392	0.93820	0.98967	0.89301	D	AEFBI	0.904063	0.85390	D	1.01972204216743	0.96320	14.55371	0.949691751068047	0.97394	16.056	0.999998615305601	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	9.325000	0.96006	11.189000	0.88595	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	1.0:0.0:0.0:0.0	16.200	0.81878	248	0.90287	Histidine kinase/HSP90-like ATPase|Histidine kinase domain|Histidine kinase/HSP90-like ATPase|Histidine kinase/HSP90-like ATPase;.;Histidine kinase/HSP90-like ATPase|Histidine kinase domain|Histidine kinase/HSP90-like ATPase|Histidine kinase/HSP90-like ATPase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	35	chr2	172593029	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1080	6	1	0	0
chr2	174399923	174399923	G	A	exonic	SCRN3	.	nonsynonymous SNV	SCRN3:NM_001193528:exon3:c.G140A:p.C47Y,SCRN3:NM_024583:exon3:c.G161A:p.C54Y	.	.	.	.	.	.	.	.	0.9756	0.844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	.	7.7e-05	0.00239617	0.0013	0.0001	9.183e-05	0.0001	0	1.605e-05	0	0.0107	0.0010996	170	154602	rs199584499	0.0005	0.0005	0.0003	0.0006	0.0088	0.0004	0.0004	0.0081	0.0079	0	0	0	3.212e-05	0	0	1.074e-05	0.0006	0.0088	0.0003	0.0003	0.0002	0.0005	0.0086	0.0002	0.0002	0.0064	0.0056	9.038e-05	0	0	0	0.0002	0	0	1.554e-05	0	0.0086	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.48	0.92553	M	2.18	0.33412	T	-10.87	0.99258	D	0.904	0.92550	-0.4590	0.70101	T	0.264	0.63469	T	10	0.011220247	0.00246	T	.	.	.	0.636	0.86078	.	.	0.500303608228	0.49666	0.9169873366800069	0.91673	0.270108457044	0.29533	0.761164307594	0.76101	T	0.165995	0.80015	T	-0.017557	0.49200	T	0.20826	0.83574	D	0.38287091255188	0.28293	T	0.992601	0.99933	D	0.975907	0.98782	0.9557271	0.98735	0.975907	0.98782	0.9557271	0.98736	-12.416	0.86819	D	.	.	0.912	0.83756	P	.;.;.;.;.;.	.;.;.;.;.;.	5.862081	0.93860	33	0.99745115919289562	0.83778	0.99844	0.99801	D	AEFBI	0.945888	0.95471	D	0.936865058214395	0.93445	12.04423	0.869538429706844	0.94104	12.50756	0.999999999999998	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.56	5.56	0.83678	9.927000	0.98810	9.887000	0.82244	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.515	0.95155	888	0.27761	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	577.83	25	chr2	174399923	.	G	A	577.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.72;DP=205;ExcessHet=0;FS=3.965;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=23.11;ReadPosRankSum=1.56;SOR=0.199	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,102,1144:.	6	0	1	0
chr2	175995602	175995602	T	C	exonic	LNPK	.	nonsynonymous SNV	LNPK:NM_001305008:exon2:c.A176G:p.Q59R,LNPK:NM_001305010:exon2:c.A176G:p.Q59R	.	.	.	.	.	.	.	.	.	.	.	3218397	LNPK-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.023	.	0.0015	0.00179712	0.0003	0.0036	0.0003	0	0	0	0	0	0.0003169	49	154602	rs375567653	0.0001	0.0001	0.0001	0.0001	0.0037	0.0001	9.784e-05	0.0032	0.0030	0.0037	0.0003	0	0	0	0	1.816e-06	0.0005	0	0.0012	0.0011	0.0012	0.0011	0.0039	0.0010	0.0010	0.0034	0.0032	0.0039	0	0.0007	0	0	0	0	0	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	957.27	37	chr2	175995602	.	T	C	957.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.703;DP=263;ExcessHet=0;FS=0.802;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=1.3;SOR=0.821	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	1	1
chr2	177552492	177552492	T	G	exonic	TTC30B	.	nonsynonymous SNV	TTC30B:NM_152517:exon1:c.A272C:p.K91T	.	423	1090	9	0	0	9	0.00411147	.	.	.	2232176	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.617	0.175424827557	0.0006	0.000399361	0.0007	0.0001	0.0003	0	0	0.0010	0.0011	0.0011	0.0006209	96	154602	rs200432024	0.0006	0.0006	0.0006	0.0007	0.0070	0.0006	0.0006	0.0053	0.0047	5.984e-05	0.0007	0.0061	0	3.777e-05	0.0070	0.0005	0.0010	0.0009	0.0005	0.0005	0.0006	0.0005	0.0012	0.0004	0.0004	0.0005	0.0005	7.213e-05	0	0.0003	0.0052	0	0	0.0034	0.0007	0.0014	0.0012	0.005	0.63226	D	0.024	0.56640	D	0.952	0.54136	P	0.703	0.54270	P	0.000000	0.84330	D	0.086462	0.999973	0.53665	D	2.98	0.85499	M	-1.18	0.78314	T	-4.43	0.77554	D	0.494	0.52740	-0.1432	0.79086	T	0.481	0.80165	T	10	0.0171265	0.00364	T	0.175425	0.85151	D	0.617	0.85091	.	.	0.832929549343	0.83133	0.5255672061873368	0.52480	0.759124871029	0.64150	0.805206000805	0.82757	D	0.104277	0.41370	T	-0.0276229	0.47760	T	0.147012	0.79994	D	0.11528528894566	0.13963	T	0.969603	0.89085	D	0.683055	0.77134	0.5904931	0.76239	0.683055	0.77136	0.5904931	0.76240	-11.676	0.83237	D	.	.	0.655	0.71120	P	.	.	4.679510	0.74868	26.2	0.99698062928155939	0.80453	0.86202	0.45438	D	ALL	0.511593	0.54016	D	0.398867258693785	0.61362	4.336133	0.354479298320251	0.58779	4.050538	0.999999999984976	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.621717	0.48901	0	.	.	4.56	3.4	0.38031	4.315000	0.58963	7.241000	0.57901	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0787:0.0:0.9213	10.267	0.42642	821	0.40814	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.006793	0.002924	0.000000	0.000000	0.003049	0.000000	0.07143	1483.83	46	chr2	177552492	.	T	G	1483.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.22;DP=480;ExcessHet=0;FS=0.707;MLEAC=1;MLEAF=0.071;MQ=57.75;MQRankSum=-0.113;QD=13.25;ReadPosRankSum=-0.105;SOR=0.829	GT:AD:DP:GQ:PL	0/1:53,59:112:99:1494,0,1353	6	0	1	0
chr2	178450414	178450414	-	AAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACGGCT	exonic	PRKRA	.	stopgain	PRKRA:NM_001139517:exon1:c.29_30insAGCCGTCCCTTCTCGCCCTGTCCCAGAGCAGGCACCGCCGAGGCCCCGCCGCTGGAGCGCGAGGACAGTGGGACCTT:p.C10*	Dystonia 16, Autosomal recessive	1	1390	34	0	97	131	0.0120824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.942e-05	4.241e-05	3.131e-05	2.751e-05	5.397e-06	2.217e-05	1.97e-05	1.94e-06	1.28e-06	0	0	3.826e-05	0	0.0007	0	5.397e-06	1.656e-05	0	0.0020	0.0032	0.0019	0.0020	0.0029	0.0018	0.0017	0.0018	0.0015	0.0019	0.0044	0.0024	0.0020	0.0015	0.0023	0	0.0018	0.0033	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3979.4	34	chr2	178450414	.	G	GAAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACGGCT	3979.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=5.55;DP=540;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-5.103;SOR=0.676	GT:AD:DP:GQ:PL	0/1:198,111:309:99:3990,0,7926	6	0	1	0
chr2	178532364	178532364	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon186:c.G77056C:p.A25686P,TTN:NM_133432:exon187:c.G77431C:p.A25811P,TTN:NM_133437:exon187:c.G77632C:p.A25878P,TTN:NM_133378:exon307:c.G96547C:p.A32183P,TTN:NM_001256850:exon308:c.G99328C:p.A33110P,TTN:NM_001267550:exon358:c.G104251C:p.A34751P	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	56831	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Tibial_muscular_dystrophy|Early-onset_myopathy_with_fatal_cardiomyopathy|TTN-related_disorder|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|.|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.239	0.0343024965576	0.0010	0.000199681	0.0012	0	0.0003	0	0	0.0020	0.0011	0.0004	0.0010737	166	154602	rs185683410	0.0009	0.0009	0.0009	0.0010	0.0023	0.0009	0.0009	0.0013	0.0011	2.987e-05	0.0002	0.0314	0	0	0.0023	0.0003	0.0029	0.0002	0.0010	0.0010	0.0010	0.0009	0.0005	0.0008	0.0008	0.0004	0.0003	4.811e-05	0	6.533e-05	0.0297	0	0	0	0.0005	0.0019	0	0.062	0.36912	T	.	.	.	0.337	0.33382	B	0.123	0.32463	B	.	.	.	.	0.999935	0.51612	D	0	0.06538	N	-0.06	0.63568	T	-2.49	0.54217	N	0.223	0.32148	-0.8506	0.51926	T	0.145	0.46805	T	9	0.0036444366	0.00067	T	0.034302	0.55580	D	0.239	0.54358	.	.	0.299770980665	0.29595	.	.	0.143563329922	0.16206	0.343197584152	0.16916	T	.	.	.	-0.272383	0.11492	T	-0.281864	0.46612	T	0.0315734217417317	0.02238	T	0.890111	0.62362	D	.	.	.	.	.	.	.	.	-4.237	0.27284	T	.	.	0.621	0.69743	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.792384	0.22787	15.76	0.94329444082467795	0.24661	0.97368	0.74307	D	AEFBCI	.	.	.	0.0142502331785381	0.42503	2.562142	0.176139089818947	0.48542	3.068823	1.0	0.98316	0.632932	0.41330	0	0.71359	0.82159	0	0.601832	0.32385	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	6.146000	0.71541	.	.	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.772000	0.36596	0.0:1.0:0.0:0.0	19.946	0.97182	365	0.84644	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1017.44	33	chr2	178532364	.	C	G	1017.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.147;DP=378;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.616;SOR=0.646	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1620	6	0	1	0
chr2	178549450	178549450	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon167:c.C64981T:p.P21661S,TTN:NM_133432:exon168:c.C65356T:p.P21786S,TTN:NM_133437:exon168:c.C65557T:p.P21853S,TTN:NM_133378:exon288:c.C84472T:p.P28158S,TTN:NM_001256850:exon289:c.C87253T:p.P29085S,TTN:NM_001267550:exon339:c.C92176T:p.P30726S	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1505	14	2	0	18	0.00594452	.	.	YES	56684	Cardiomyopathy|Supraventricular_tachycardia|Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|Tip-toe_gait|Dilated_Cardiomyopathy,_Dominant|TTN-related_myopathy|Limb-girdle_muscular_dystrophy,_recessive|TTN-related_disorder|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|Human_Phenotype_Ontology:HP:0004755,MedGen:C0039240|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|MedGen:CN239310|MONDO:MONDO:0100175,MedGen:CN294812|MedGen:CN239352|.|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.520	0.0713444663686	0.0017	0.00199681	0.0025	0.0001	0.0007	0	0.0012	0.0030	0.0022	0.0049	0.0024838	384	154602	rs72648247	0.0027	0.0027	0.0027	0.0028	0.0068	0.0027	0.0026	0.0051	0.0047	0.0005	0.0009	0.0044	0	0.0012	0.0068	0.0028	0.0021	0.0052	0.0020	0.0020	0.0018	0.0022	0.0058	0.0018	0.0017	0.0041	0.0036	0.0004	0	0.0007	0.0026	0	0.0018	0.0136	0.0031	0.0019	0.0058	0.005	0.63226	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	4.235	0.97980	H	0.36	0.57880	T	-5.85	0.93440	D	0.455	0.66787	0.361	0.88502	D	0.542	0.83122	D	9	0.008055747	0.00183	T	0.071344	0.71244	D	0.520	0.79583	.	.	0.455081427078	0.45129	.	.	0.466644225527	0.46063	0.615165174007	0.55046	T	.	.	.	-0.30756	0.07964	T	-0.21223	0.53482	T	0.0791858763826152	0.09881	T	0.889011	0.62852	D	.	.	.	.	.	.	.	.	-9.857	0.73051	D	.	.	0.980	0.91161	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.775189	0.36435	20.2	0.91061175991936283	0.20313	0.99413	0.95711	D	AEFBI	0.909721	0.86672	D	1.04884838020579	0.97063	15.53342	0.936449665253666	0.96974	15.40516	0.999999999999984	0.74766	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.73	5.73	0.89730	8.146000	0.89551	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.807000	0.38039	0.0:0.0:1.0:0.0	20.279	0.98503	520	0.74355	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005539	0.005051	0.002717	0.002924	0.050000	0.000000	0.009146	0.007576	0.07143	1504.63	35	chr2	178549450	.	G	A	1504.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.324;DP=402;ExcessHet=0;FS=1.482;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.485;SOR=0.519	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1278	6	0	1	0
chr2	178610171	178610171	A	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon99:c.T24160G:p.F8054V,TTN:NM_133432:exon100:c.T24535G:p.F8179V,TTN:NM_133437:exon100:c.T24736G:p.F8246V,TTN:NM_133378:exon220:c.T43651G:p.F14551V,TTN:NM_001256850:exon221:c.T46432G:p.F15478V,TTN:NM_001267550:exon271:c.T51355G:p.F17119V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1519	2	0	0	2	0.000657895	.	.	.	238471	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Early-onset_myopathy_with_fatal_cardiomyopathy|Hypertrophic_cardiomyopathy_9|Cardiovascular_phenotype|not_provided	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765|MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.522	0.0378997002766	8.3e-05	.	0.0001	0	0	0	0	7.499e-05	0	0.0007	0.0001035	16	154602	rs370696020	3.696e-05	3.694e-05	3.269e-05	4.128e-05	0.0004	2.896e-05	2.594e-05	0.0003	0.0002	0	0	0	0	0	0.0002	1.98e-05	0	0.0004	1.972e-05	1.969e-05	0	4.034e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.944e-05	0	0.0002	0.005	0.65419	D	.	.	.	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	1	0.81001	D	2.23	0.63091	M	0.43	0.56772	T	-5.57	0.86608	D	0.55	0.74826	-0.2913	0.75229	T	0.349	0.71297	T	9	0.25526506	0.42917	T	0.038	0.57897	D	0.522	0.79704	.	.	0.608970947243	0.60582	.	.	0.527804686519	0.50380	0.731197714806	0.71682	T	.	.	.	-0.111839	0.34466	T	-0.0704647	0.65593	T	0.243913738824623	0.22598	T	0.925008	0.72455	D	.	.	.	.	.	.	.	.	-8.454	0.69121	D	.	.	0.977	0.90519	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.526836	0.49461	22.8	0.8694200803040395	0.16878	0.98928	0.88751	D	AEFGBI	0.935260	0.92985	D	0.850765963865775	0.89152	9.855246	0.82528976348416	0.91495	10.91523	0.999999916551783	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.48	5.48	0.80675	9.268000	0.94851	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.578	0.76153	414	0.81871	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2350.53	33	chr2	178610171	.	A	C	2350.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.484;DP=397;ExcessHet=0;FS=1.678;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-1.819;SOR=0.57	GT:AD:DP:GQ:PL	0/1:105,106:211:99:2361,0,2602	6	0	1	0
chr2	178664014	178664014	C	G	splicing	TTN	NM_001267550:exon169:c.36364+1G>C	.	.	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	4	1517	1	0	0	1	0.000329489	1.0000	0.946	YES	1923586	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_provided	MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	2.598e-05	0	0	0.0004	0	0	0	0	1.94e-05	3	154602	rs777040601	3.012e-05	3.01e-05	3.405e-05	2.614e-05	0.0009	2.283e-05	2.033e-05	0.0007	0.0006	0	8.95e-05	0	0.0009	0	0	8.995e-07	3.314e-05	0	6.58e-06	6.569e-06	0	1.347e-05	6.568e-05	0	0	.	.	0	0	6.568e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0417673	0.57277	T	0.131087	0.78962	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.396386	0.47047	22.4	0.97431724109905393	0.33931	0.95467	0.64837	D	AEFBI	.	.	.	0.903299589625438	0.91920	11.13562	0.709429309844885	0.83095	7.932574	0.227537235761436	0.18428	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.964171	0.67635	5.28	5.28	0.74118	0.078000	0.14615	.	.	0.599000	0.40250	0.040000	0.20979	1.000000	0.68203	0.350000	0.25659	0.0:0.8678:0.1322:0.0	16.297	0.82611	419	0.81524	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	892.63	37	chr2	178664014	.	C	G	892.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.548;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-0.135;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr2	178684680	178684680	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon128:c.C28892T:p.P9631L,TTN:NM_001256850:exon129:c.C31673T:p.P10558L,TTN:NM_001267550:exon131:c.C32624T:p.P10875L	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1485	36	1	0	38	0.012633	.	.	.	56038	Tibial_muscular_dystrophy|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|Cardiomyopathy|Supraventricular_tachycardia|Brugada_syndrome|Ventricular_tachycardia|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|Human_Phenotype_Ontology:HP:0004755,MedGen:C0039240|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|EFO:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.099	0.0676674220286	0.0043	0.00179712	0.0051	0.0011	0.0040	0	0.0003	0.0077	0.0068	0.0020	0.0051552	797	154602	rs72650031	0.0062	0.0062	0.0062	0.0062	0.0138	0.0061	0.0061	0.0113	0.0104	0.0011	0.0048	0.0298	0	0.0008	0.0138	0.0066	0.0078	0.0019	0.0044	0.0044	0.0046	0.0043	0.0061	0.0041	0.0040	0.0056	0.0054	0.0013	0	0.0051	0.0271	0	0.0004	0.0170	0.0061	0.0066	0.0017	0.018	0.50676	D	.	.	.	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	0.953341	0.81001	D	.	.	.	0.01	0.62459	T	-4.2	0.75695	D	0.307	0.36884	-0.8865	0.49231	T	0.128	0.43564	T	9	0.0047104955	0.00099	T	0.067667	0.70230	D	0.099	0.28413	.	.	0.399449838166	0.39556	.	.	0.0853964992584	0.09651	0.350199282169	0.17950	T	.	.	.	-0.406057	0.02112	T	-0.34951	0.39260	T	0.0146866148041845	0.00305	T	0.670133	0.37107	T	.	.	.	.	.	.	.	.	-5.785	0.44513	T	.	.	0.118	0.24054	B	.;.;.;.	.;.;.;.	2.575469	0.33383	19.32	0.83374782489182619	0.14691	0.90434	0.51607	D	AEFBI	0.475036	0.51905	N	-0.154510048558569	0.35044	2.007901	-0.0064238421302907	0.39425	2.337319	0.0313608349272037	0.13997	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.63	4.76	0.60189	1.502000	0.35312	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0699:0.0:0.7916:0.1385	9.833	0.40121	393	0.83123	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.011593	0.005051	0.009511	0.023392	0.000000	0.000000	0.015337	0.011364	0.07143	377.63	34	chr2	178684680	.	G	A	377.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.78;DP=195;ExcessHet=0;FS=2.928;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.625;SOR=1.053	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1192	6	0	1	0
chr2	178684980	178684980	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon127:c.C28748T:p.A9583V,TTN:NM_001256850:exon128:c.C31529T:p.A10510V,TTN:NM_001267550:exon130:c.C32480T:p.A10827V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1517	4	0	0	4	0.00131666	.	.	.	56033	Tibial_muscular_dystrophy|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Cardiomyopathy|not_specified|TTN-related_disorder|not_provided	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.100	0.0194785168333	0.0016	0.000798722	0.0024	0.0002	0.0005	0	0.0006	0.0042	0	0.0010	0.0016106	249	154602	rs72650030	0.0021	0.0021	0.0021	0.0020	0.0033	0.0020	0.0020	0.0024	0.0024	0.0004	0.0003	0.0010	0	0.0002	0.0033	0.0025	0.0013	0.0010	0.0013	0.0013	0.0013	0.0013	0.0025	0.0012	0.0011	0.0022	0.0021	0.0004	0	0.0003	0.0009	0	9.429e-05	0	0.0025	0.0009	0.0012	0.773	0.03354	T	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999999	0.58761	D	.	.	.	-0.07	0.63738	T	-0.68	0.19509	N	0.062	0.08088	-1.0753	0.08287	T	0.086	0.33382	T	9	0.004187286	0.00083	T	0.019479	0.41853	T	0.100	0.28662	.	.	0.158396225186	0.15383	.	.	0.0831900980906	0.09381	0.292435526848	0.09278	T	.	.	.	-0.525139	0.00410	T	-0.524768	0.19813	T	0.0110077593060059	0.00159	T	0.592841	0.28377	T	.	.	.	.	.	.	.	.	-1.375	0.01601	T	.	.	0.082	0.08851	B	.;.;.;.	.;.;.;.	2.063001	0.26232	17.04	0.95815316458911215	0.27896	0.32983	0.24718	N	AEFBI	0.094928	0.19187	N	-0.553443693941343	0.20376	1.073672	-0.372022992503651	0.25835	1.423	1.49686597091072E-4	0.05573	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.81	2.08	0.26079	0.804000	0.26758	.	.	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.999000	0.91618	0.4318:0.0:0.4404:0.1278	5.454	0.15876	390	0.83257	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.000000	0.07143	1053.45	35	chr2	178684980	.	G	A	1053.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.434;DP=309;ExcessHet=0;FS=0.692;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=0.627;SOR=0.591	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1182	6	0	1	0
chr2	178718746	178718746	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon81:c.G20722A:p.V6908I,TTN:NM_001256850:exon82:c.G23503A:p.V7835I,TTN:NM_001267550:exon84:c.G24454A:p.V8152I	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	55897	not_specified|Cardiovascular_phenotype|not_provided	MedGen:CN169374|MedGen:CN230736|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.263	0.0149077258008	.	.	4.147e-05	0	0	0.0002	0	1.501e-05	0	0.0001	3.23e-05	5	154602	rs397517507	4.447e-05	4.583e-05	3.676e-05	5.227e-05	0.0008	3.576e-05	3.258e-05	0.0006	0.0005	0	4.472e-05	0	0.0008	0	0	2.159e-05	3.313e-05	6.957e-05	5.26e-05	5.254e-05	3.856e-05	6.729e-05	0.0004	2.559e-05	1.831e-05	6.835e-05	2.86e-05	7.242e-05	0	6.551e-05	0	0.0004	0	0	2.941e-05	0	0	0.364	0.11770	T	.	.	.	0.018	0.17786	B	0.021	0.19346	B	.	.	.	.	0.963987	0.38380	D	.	.	.	-0.51	0.70597	T	-0.45	0.14782	N	0.05	0.11340	-0.6205	0.63968	T	0.281	0.65260	T	9	0.09499732	0.16934	T	0.014908	0.35329	T	0.263	0.57612	0.708	0.84418	0.424313518543	0.42050	.	.	0.0722242068583	0.08101	0.475994944572	0.35506	T	.	.	.	-0.253672	0.13652	T	-0.301835	0.44532	T	0.0224099806746072	0.00955	T	0.646135	0.29475	T	.	.	.	.	.	.	.	.	-3.975	0.24920	T	.	.	0.105	0.19194	B	.;.;.;.	.;.;.;.	2.464511	0.31755	18.84	0.9195098425394117	0.21279	0.38009	0.25891	N	AEFBI	0.145156	0.26829	N	-0.100061807074213	0.37390	2.17463	0.0345888616413918	0.41334	2.481476	0.684373324123639	0.22516	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.01	6.01	0.97420	1.108000	0.30736	.	.	0.599000	0.40250	0.443000	0.26511	0.998000	0.33993	0.998000	0.85391	0.0:0.9299:0.0:0.0701	13.683	0.61977	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1283.44	93	chr2	178718746	.	C	T	1283.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.437;DP=411;ExcessHet=0;FS=1.68;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=-0.441;SOR=0.529	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1409	6	0	1	0
chr2	178722029	178722029	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon75:c.G18902A:p.R6301Q,TTN:NM_001256850:exon76:c.G21683A:p.R7228Q,TTN:NM_001267550:exon78:c.G22634A:p.R7545Q	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1519	2	0	0	2	0.000657895	.	.	YES	55868	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Cardiomyopathy|not_provided|Tibial_muscular_dystrophy|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure	MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.212	0.0116915352262	0.0030	0.000199681	0.0020	0.0012	0.0006	0	0.0005	0.0030	0.0056	0.0009	0.0018952	293	154602	rs72648969	0.0032	0.0032	0.0033	0.0030	0.0034	0.0031	0.0030	0.0033	0.0033	0.0005	0.0006	0.0144	2.52e-05	0.0007	0	0.0034	0.0039	0.0013	0.0019	0.0019	0.0019	0.0019	0.0030	0.0017	0.0017	0.0027	0.0025	0.0005	0	0.0008	0.0112	0	0.0002	0	0.0030	0.0019	0.0014	0.389	0.10874	T	.	.	.	0.91	0.50240	P	0.203	0.37000	B	.	.	.	.	0.999996	0.58761	D	.	.	.	-0.18	0.65747	T	-1.56	0.37759	N	0.35	0.43514	-0.9174	0.45904	T	0.112	0.40029	T	9	0.0066078007	0.00150	T	0.011692	0.29566	T	0.212	0.50341	.	.	0.170165803431	0.16609	.	.	0.15309083238	0.17276	0.379114866257	0.22131	T	.	.	.	-0.353465	0.04513	T	-0.281343	0.46666	T	0.0103780768956334	0.00142	T	0.745225	0.41282	T	.	.	.	.	.	.	.	.	-2.477	0.06315	T	.	.	0.093	0.13830	B	.;.;.;.	.;.;.;.	3.421265	0.47502	22.5	0.9726883317865942	0.33126	0.11764	0.16847	N	AEFBI	0.151890	0.27646	N	0.115154905156839	0.47168	2.946465	0.210974272542622	0.50456	3.237434	0.928290240603696	0.26923	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.16	6.16	0.99302	1.274000	0.32736	.	.	0.599000	0.40250	0.048000	0.21332	1.000000	0.68203	0.979000	0.57723	0.0:0.7349:0.1342:0.1309	8.324	0.31306	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.000000	0.07143	1931.44	33	chr2	178722029	.	C	T	1931.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.84;DP=358;ExcessHet=0;FS=1.187;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=-1.52;SOR=0.828	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr2	178734746	178734746	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon48:c.G11446C:p.V3816L,TTN:NM_001256850:exon49:c.G14227C:p.V4743L,TTN:NM_001267550:exon51:c.G15178C:p.V5060L	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1485	34	3	0	40	0.013289	.	.	.	55764	Supraventricular_tachycardia|Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_cardiomyopathy_1G|not_provided|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tip-toe_gait|TTN-related_myopathy|Cardiomyopathy|Tibial_muscular_dystrophy|Cardiovascular_phenotype	Human_Phenotype_Ontology:HP:0004755,MedGen:C0039240|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|MONDO:MONDO:0100175,MedGen:CN294812|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.236	.	0.0028	0.00339457	0.0035	0.0003	0.0006	0	0.0014	0.0039	0.0045	0.0086	0.0034864	539	154602	rs72648929	0.0033	0.0033	0.0031	0.0034	0.0099	0.0032	0.0032	0.0079	0.0077	0.0005	0.0007	0.0097	0.0001	0.0013	0.0099	0.0031	0.0032	0.0084	0.0024	0.0023	0.0022	0.0026	0.0089	0.0022	0.0021	0.0068	0.0061	0.0004	0	0.0006	0.0095	0.0004	0.0019	0	0.0034	0.0024	0.0089	0.586	0.05881	T	.	.	.	0.708	0.42036	P	0.387	0.44046	B	.	.	.	.	0.878587	0.81001	D	.	.	.	-0.26	0.67187	T	-1.27	0.31981	N	0.152	0.18920	-0.5974	0.64923	T	0.234	0.60112	T	9	0.0074189305	0.00169	T	.	.	.	0.236	0.53931	.	.	0.366085729538	0.36220	.	.	0.193963078417	0.21732	0.489897310734	0.37424	T	.	.	.	-0.406531	0.02097	T	-0.351743	0.39005	T	0.0429511013410394	0.04229	T	0.818618	0.50455	T	.	.	.	.	.	.	.	.	-4.406	0.29921	T	.	.	0.395	0.59302	A	.;.;.;.	.;.;.;.	2.461362	0.31708	18.82	0.45163212625536364	0.03525	0.98803	0.87055	D	AEFBI	0.817956	0.73932	D	0.12769802415775	0.47759	2.997087	0.163325034344203	0.47853	3.009335	0.999999999999971	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.67	5.67	0.87673	6.166000	0.71739	.	.	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.332000	0.25247	0.0:1.0:0.0:0.0	19.757	0.96293	341	0.85936	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	6814.44	36	chr2	178734746	.	C	G	6814.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.4;DP=835;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=-0.666;SOR=0.647	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr2	178745844	178745844	C	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133379:exon46:c.G16556T:p.G5519V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0170954856502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.19854	T	0.191	0.28391	T	0.023	0.18885	B	0.022	0.19653	B	.	.	.	.	0.965781	0.81001	D	.	.	.	-0.17	0.65563	T	-0.78	0.21644	N	0.682	0.68863	-0.9685	0.37510	T	0.105	0.38562	T	9	0.39360923	0.55068	T	0.017095	0.38659	T	0.118	0.32913	0.504	0.59770	0.634143885914	0.63114	.	.	.	.	.	.	.	.	.	.	-0.0787177	0.39923	T	-0.350849	0.39107	T	0.121272059203456	0.14553	T	0.467153	0.13745	T	.	.	.	.	.	.	.	.	-3.42	0.15327	T	.	.	.	.	.	.	.	2.510222	0.32421	19.04	0.97286082765280957	0.33209	0.75702	0.37079	D	AEFBI	0.343526	0.43931	N	-0.174707414006874	0.34190	1.94854	0.0518444604302602	0.42162	2.545341	0.999617665870568	0.40981	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.94	5.05	0.67566	1.650000	0.36908	.	.	0.599000	0.40250	0.921000	0.31989	0.998000	0.33993	0.885000	0.42453	0.2437:0.4972:0.174:0.085	3.347	0.06721	341	0.85936	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1862.44	35	chr2	178745844	.	C	A	1862.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.94;DP=328;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-1.069;SOR=0.673	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1238	6	0	1	0
chr2	178776739	178776739	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon27:c.C4987G:p.L1663V,TTN:NM_133432:exon27:c.C4987G:p.L1663V,TTN:NM_133437:exon27:c.C4987G:p.L1663V,TTN:NM_001256850:exon28:c.C5125G:p.L1709V,TTN:NM_001267550:exon28:c.C5125G:p.L1709V,TTN:NM_133378:exon28:c.C5125G:p.L1709V,TTN:NM_133379:exon28:c.C5125G:p.L1709V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.0147726489888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.56456	D	0.0	0.92824	D	0.999	0.90584	D	0.998	0.88582	D	.	.	.	.	0.989898	0.41045	D	.	.	.	-0.66	0.72348	T	-2.23	0.58896	N	0.345	0.64052	0.020	0.82663	D	0.536	0.82820	D	9	0.36435875	0.52983	T	0.014773	0.35101	T	0.414	0.72479	0.465	0.53566	0.662473173981	0.65964	.	.	0.465770963553	0.46000	0.717854857445	0.69733	T	.	.	.	-0.0103844	0.50212	T	-0.252693	0.49552	T	0.333222288417017	0.26354	T	0.916808	0.71149	D	.	.	.	.	.	.	.	.	-8.213	0.66927	D	.	.	0.608	0.69190	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.539940	0.49714	22.8	0.88723039728343223	0.18203	0.98108	0.79665	D	AEFBI	0.903450	0.85255	D	0.794725804563912	0.85775	8.677712	0.768167274864971	0.87509	9.246127	0.999999279517527	0.74766	0.516011	0.20929	0	0.546412	0.12157	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.34	5.34	0.75982	6.709000	0.74487	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	19.049	0.93018	345	0.85689	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	122.72	34	chr2	178776739	.	G	C	122.72	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.384;DP=441;ExcessHet=1.383;FS=157.805;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=1.69;SOR=7.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1343:.	3	0	3	1
chr2	178776741	178776741	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon27:c.A4985G:p.K1662R,TTN:NM_133432:exon27:c.A4985G:p.K1662R,TTN:NM_133437:exon27:c.A4985G:p.K1662R,TTN:NM_001256850:exon28:c.A5123G:p.K1708R,TTN:NM_001267550:exon28:c.A5123G:p.K1708R,TTN:NM_133378:exon28:c.A5123G:p.K1708R,TTN:NM_133379:exon28:c.A5123G:p.K1708R	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.442	0.0136192503203	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1227799317	0	2.737e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.35349	T	0.009	0.66756	D	0.999	0.90584	D	0.996	0.88582	D	.	.	.	.	0.995762	0.42845	D	.	.	.	-0.48	0.70249	T	-2.2	0.56466	N	0.33	0.57775	0.040	0.83044	D	0.438	0.77746	T	9	0.3327809	0.50479	T	0.013619	0.33161	T	0.442	0.74518	0.521	0.62368	0.471456661759	0.46775	.	.	0.423302696435	0.42799	0.685460805893	0.65053	T	.	.	.	-0.0238045	0.48310	T	-0.27197	0.47620	T	0.50076264678834	0.32657	D	0.962404	0.87125	D	.	.	.	.	.	.	.	.	-4.051	0.24564	T	.	.	0.170	0.37312	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.446323	0.47969	22.5	0.94628464954974423	0.25214	0.98026	0.78979	D	AEFBI	0.959721	0.98018	D	0.677938488336037	0.78186	6.821307	0.685804443953441	0.81302	7.494664	0.999999986742244	0.74766	0.516011	0.20929	0	0.546412	0.12157	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.34	5.34	0.75982	7.956000	0.87398	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:0.0:1.0	15.325	0.73860	345	0.85689	.;.;Immunoglobulin I-set|Immunoglobulin-like domain;Immunoglobulin I-set|Immunoglobulin-like domain;.;Immunoglobulin I-set|Immunoglobulin-like domain;Immunoglobulin I-set|Immunoglobulin-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	49.14	34	chr2	178776741	.	T	C	49.14	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-2.963;DP=363;ExcessHet=0;FS=41.476;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=0.935;SOR=5.133	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1343:.	4	0	1	2
chr2	181678582	181678582	C	G	exonic	NEUROD1	.	nonsynonymous SNV	NEUROD1:NM_002500:exon2:c.G279C:p.K93N	Maturity-onset diabetes of the young 6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.26666140162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.008	0.67890	D	0.992	0.64738	D	0.917	0.65306	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.36	0.67893	M	-3.89	0.95984	D	-3.93	0.73267	D	0.133	0.12913	0.970	0.96706	D	0.899	0.96635	D	10	0.46495566	0.59513	T	0.266661	0.89719	D	0.582	0.83193	0.204	0.11936	0.981752576465	0.98155	0.3507142746384394	0.34985	1.39719179774	0.85110	0.736429929733	0.72447	T	0.82509	0.95764	D	0.0536061	0.58806	T	-0.160775	0.58282	T	0.984899401664734	0.76055	D	0.852015	0.53695	D	0.75474715	0.81145	0.70367765	0.82535	0.75474715	0.81146	0.70367765	0.82536	-11.457	0.82105	D	0.5535140685958624	0.62186	0.985	0.92305	P	.	.	5.011938	0.83234	28.0	0.99857391532379614	0.93639	0.00500	0.02358	N	AEFBHCI	0.756727	0.69590	D	0.604673102786654	0.73471	5.971292	0.580451642377621	0.73538	5.987081	0.999966982596455	0.48965	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	6.16	5.28	0.74118	1.359000	0.33717	5.999000	0.52457	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.7863:0.1412:0.0725	9.838	0.40151	854	0.34840	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	283.23	61	chr2	181678582	.	C	G	283.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.888;DP=490;ExcessHet=0;FS=282.361;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.16;ReadPosRankSum=2.39;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:96,35:131:99:.:.:293,0,2838:.	5	0	1	1
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0056	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0007	0.0006	9.356e-05	0.0004	0.0002	0.0001	0.0009	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300962	0.83045	D	0.194535	0.82825	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.169298	0.96223	35	0.9948224112750832	0.66959	0.99140	0.91816	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	384.26	23	chr2	186504215	.	G	C	384.26	.	AC=4;AF=0.4;AN=10;BaseQRankSum=0.85;DP=183;ExcessHet=4.1913;FS=59.582;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.43;ReadPosRankSum=1.3;SOR=6.375	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:25,6:32:12:.:.:0,12,597:.	1	0	4	2
chr2	187478788	187478788	G	T	exonic	TFPI	.	nonsynonymous SNV	TFPI:NM_001032281:exon7:c.C644A:p.T215K,TFPI:NM_001318941:exon8:c.C644A:p.T215K	.	439	1081	1	0	1	2	0.000462321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0409973540277	0.0002	0.000998403	0.0002	0.0014	8.697e-05	0.0001	0	4.538e-05	0	0	0.0001682	26	154602	rs144664871	5.682e-05	5.951e-05	5.585e-05	5.78e-05	0.0005	4.68e-05	4.304e-05	0.0003	0.0003	0.0005	0.0002	0	0.0001	0	0.0004	3.329e-05	0.0002	0	0.0004	0.0004	0.0004	0.0003	0.0011	0.0003	0.0003	0.0008	0.0007	0.0011	0	0.0006	0	0	0	0	7.353e-05	0.0005	0	0.009	0.57480	D	0.006	0.70582	D	0.996	0.68779	D	0.929	0.66367	D	.	.	.	.	1	0.81001	D	.	.	.	-0.17	0.65563	T	-0.4	0.13805	N	0.363	0.40465	-0.5495	0.66806	T	0.338	0.70478	T	8	0.04061094	0.02644	T	0.040997	0.59686	D	0.115	0.32236	.	.	0.780090758719	0.77806	.	.	.	.	.	.	.	.	.	.	-0.361856	0.04026	T	-0.338109	0.40558	T	0.032638631771655	0.02412	T	0.449255	0.12651	T	.	.	.	.	.	.	.	.	-2.926	0.09406	T	.	.	0.086	0.10691	B	.;.	.;.	2.593132	0.33647	19.40	0.98559647709639275	0.42961	0.92468	0.55782	D	AEFDBI	0.671760	0.63839	D	0.446573690396816	0.64009	4.646091	0.438131344305485	0.63958	4.64041	0.999848558252874	0.43971	0.706548	0.73137	0	0.573078	0.20572	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	4.63	4.63	0.57175	3.444000	0.52678	4.310000	0.42966	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	14.662	0.68489	568	0.70638	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	249.63	27	chr2	187478788	.	G	T	249.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.684;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-2.094;SOR=0.551	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,103,1188	6	0	1	0
chr2	189667457	189667457	G	A	exonic	ASNSD1	.	nonsynonymous SNV	ASNSD1:NM_001353497:exon3:c.G1325A:p.R442K,ASNSD1:NM_019048:exon4:c.G1325A:p.R442K	.	431	1083	8	0	0	8	0.00367985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0036856969133	0.0012	0.000399361	0.0011	0.0005	0.0008	0	0	0.0016	0.0011	0.0005	0.0010349	160	154602	rs34986680	0.0015	0.0015	0.0015	0.0015	0.0043	0.0014	0.0014	0.0030	0.0026	0.0002	0.0016	0.0072	0	7.489e-05	0.0043	0.0015	0.0017	0.0004	0.0016	0.0016	0.0013	0.0018	0.0056	0.0014	0.0013	0.0046	0.0043	0.0001	0	0.0056	0.0095	0	0	0.0034	0.0016	0.0019	0.0002	0.691	0.04289	T	1.0	0.19908	T	0.007	0.14184	B	0.005	0.11217	B	0.020504	0.27024	N	0.468603	0.99999	0.08975	N	0.255	0.09829	N	1.0	0.41392	T	-0.09	0.08340	N	0.077	0.05162	-1.0216	0.23195	T	0.043	0.18576	T	10	0.003089428	0.00051	T	0.003686	0.08496	T	0.027	0.05988	.	.	0.0806252709748	0.07271	0.3970532960791964	0.39620	0.109505955851	0.12349	0.294593274593	0.09598	T	0.00739	0.08919	T	-0.564106	0.00240	T	-0.590339	0.13636	T	0.000985309175592829	0.00009	T	0.624837	0.24302	T	0.047216903	0.08035	0.052024607	0.08490	0.047216903	0.08035	0.052024607	0.08489	-1.327	0.01445	T	.	.	0.070	0.11701	B	.;.;.	.;.;.	1.601078	0.20470	14.76	0.92484850953089515	0.21917	0.15077	0.18732	N	AEFBI	0.116701	0.22893	N	-0.717312550353474	0.15536	0.7837567	-0.556002215770328	0.20647	1.113326	0.935271538110542	0.27206	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.85	3.73	0.41982	0.947000	0.28680	2.029000	0.30245	0.676000	0.76740	0.031000	0.20493	0.981000	0.30433	0.980000	0.58198	0.1893:0.1624:0.6483:0.0	7.095	0.24483	753	0.51500	Asparagine synthase;Asparagine synthase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.005435	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	790.45	40	chr2	189667457	.	G	A	790.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.807;DP=274;ExcessHet=0;FS=3.57;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=0.57;SOR=1.193	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,117,1755	6	0	1	0
chr2	190962957	190962957	G	A	exonic	GLS	.	nonsynonymous SNV	GLS:NM_014905:exon18:c.G1981A:p.V661I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.0057781645295	.	.	2.512e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs762250183	1.923e-05	2.326e-05	1.367e-05	2.485e-05	0.0003	1.334e-05	1.148e-05	0.0001	0.0001	0	0	0	0.0003	0	0	9.009e-06	0	9.387e-05	3.287e-05	3.284e-05	3.856e-05	2.691e-05	0.0002	1.261e-05	7.98e-06	1.972e-05	1.125e-05	0	0	0	0	0.0002	0	0	5.881e-05	0	0	0.115	0.28520	T	0.247	0.23914	T	0.659	0.40886	P	0.036	0.22909	B	0.000782	0.41772	D	0.105638	0.913517	0.36475	D	0.69	0.16971	N	0.99	0.51228	T	-0.14	0.09627	N	0.195	0.27316	-1.0593	0.11931	T	0.078	0.31224	T	10	0.13693163	0.26049	T	0.005778	0.15012	T	0.140	0.37593	0.255	0.19533	0.502269707691	0.49865	0.32733523074318444	0.32646	0.276653511675	0.30133	0.462568581104	0.33663	T	0.03411	0.23189	T	-0.204163	0.20205	T	-0.282733	0.46524	T	0.179222301626891	0.19186	T	0.79692	0.47426	T	0.10070523	0.23781	0.07718694	0.17170	0.10070523	0.23781	0.07718694	0.17170	-3.778	0.20476	T	.	.	0.080	0.07841	B	.;.	.;.	4.201188	0.63402	24.6	0.99124279710511742	0.53089	0.99347	0.94827	D	AEFGBHCI	0.792866	0.72104	D	0.271926755074032	0.54731	3.637984	0.43120674290568	0.63519	4.587222	0.999999999938525	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	5.34	5.34	0.75982	8.674000	0.90922	11.876000	0.98705	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.226	0.93805	810	0.42761	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1459.44	33	chr2	190962957	.	G	A	1459.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.055;DP=281;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=0.358;SOR=0.738	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1303	6	0	1	0
chr2	190976854	190976854	G	C	exonic	STAT1	.	nonsynonymous SNV	STAT1:NM_001384880:exon21:c.C1985G:p.S662C,STAT1:NM_001384883:exon21:c.C1946G:p.S649C,STAT1:NM_001384885:exon21:c.C1886G:p.S629C,STAT1:NM_001384887:exon21:c.C1952G:p.S651C,STAT1:NM_001384888:exon21:c.C2015G:p.S672C,STAT1:NM_001384890:exon21:c.C1955G:p.S652C,STAT1:NM_001384882:exon22:c.C2039G:p.S680C,STAT1:NM_001384886:exon22:c.C2045G:p.S682C,STAT1:NM_001384889:exon22:c.C2045G:p.S682C,STAT1:NM_001384891:exon22:c.C2081G:p.S694C,STAT1:NM_007315:exon22:c.C2045G:p.S682C,STAT1:NM_139266:exon22:c.C2045G:p.S682C,STAT1:NM_001384881:exon23:c.C2051G:p.S684C	Immunodeficiency 31A, mycobacteriosis, autosomal dominant, Autosomal dominant;Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, Autosomal recessive;Immunodeficiency 31C, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	0.448051586284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	0.09486	T	0.232	0.26306	T	0.105	0.73220	B	0.063	0.63340	B	0.000238	0.47286	D	0.258042	0.999998	0.81001	D	1.39	0.34934	L	-3.03	0.97054	D	-2.38	0.52451	N	0.408	0.47115	0.987	0.96976	D	0.925	0.97534	D	10	0.49664995	0.61305	T	0.448052	0.94290	D	0.517	0.79400	0.327	0.31034	0.853369178999	0.85195	0.8257847086598572	0.82536	1.28434564493	0.82608	0.550936222076	0.45989	T	0.698826	0.91310	D	0.195222	0.73447	D	0.0426461	0.73102	D	0.842530012130737	0.49535	D	0.963204	0.86510	D	0.30009037	0.52913	0.119336456	0.28803	0.30009037	0.52913	0.119336456	0.28803	-7.748	0.59341	D	0.769776404809919	0.85086	0.147	0.34004	B	.;.;.;.	.;.;.;.	4.402485	0.68034	25.2	0.98074034810465538	0.38054	0.98315	0.81549	D	AEFBHCI	0.623002	0.60711	D	0.484728511595359	0.66196	4.919205	0.563052176067769	0.72309	5.789776	0.999999999999746	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	4.572000	0.60600	11.880000	0.98808	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.1327:0.8673:0.0	16.198	0.81861	801	0.44448	STAT1, SH2 domain;STAT1, SH2 domain;.;STAT1, SH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	660.44	67	chr2	190976854	.	G	C	660.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.478;DP=251;ExcessHet=0;FS=3.363;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=-0.303;SOR=1.111	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	6	0	1	0
chr2	195756135	195756135	G	A	exonic	DNAH7	.	stopgain	DNAH7:NM_018897:exon62:c.C11584T:p.Q3862X	.	.	.	.	.	.	.	.	0.9982	0.8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002360	0.36727	N	0.229124	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.565	0.58883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607496	0.97860	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.	.;High;.	11.715470	0.99953	55	0.99791975862346016	0.87750	0.95850	0.66421	D	AEFGBI	0.866209	0.78556	D	1.11296006672611	0.98366	18.08483	0.954991191299619	0.97552	16.32578	0.998535677496922	0.37148	0.553676	0.25195	0	0.588015	0.36545	0	0.536957	0.11973	0	0.677038	0.66255	0	.	.	5.23	4.32	0.50899	6.381000	0.73094	6.086000	0.53397	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.871000	0.41478	0.0:0.138:0.862:0.0	16.995	0.86239	932	0.16191	.;Dynein heavy chain domain;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr2	195756135	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=200;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1620	6	1	0	0
chr2	196242133	196242133	A	G	exonic	HECW2	.	nonsynonymous SNV	HECW2:NM_001304840:exon18:c.T2533C:p.Y845H,HECW2:NM_001348768:exon20:c.T3601C:p.Y1201H,HECW2:NM_020760:exon20:c.T3601C:p.Y1201H	Neurodevelopmental disorder with hypotonia, seizures, and absent language, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.819	0.0865938395852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.35537	T	0.099	0.38891	T	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	-2.02	0.85542	D	-4.81	0.80767	D	0.773	0.77039	0.377	0.88753	D	0.689	0.89250	D	10	0.8511987	0.84299	D	0.086594	0.74767	D	0.819	0.94200	0.453	0.51612	0.930168801304	0.92945	0.8807909437711311	0.88047	1.90672902436	0.92870	0.926575958729	0.98782	D	0.303969	0.67629	T	0.415736	0.90795	D	0.359399	0.90680	D	0.99257481098175	0.83089	D	0.963704	0.86510	D	0.5766698	0.71426	0.42218065	0.66127	0.5766698	0.71427	0.42218065	0.66127	-12.147	0.85560	D	0.3571455389140581	0.45391	0.973	0.89889	P	.;.;.;.	.;.;.;.	4.493136	0.70201	25.5	0.9987884527982559	0.95572	0.94765	0.62252	D	AEGBCIJ	0.932330	0.92253	D	0.702914353799696	0.79822	7.159928	0.679143890144947	0.80797	7.379685	0.999999999999745	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.618467	0.43123	0	0.723	0.93126	0	.	.	4.75	4.75	0.59954	9.325000	0.96006	11.223000	0.89837	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.415	0.66714	862	0.33134	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1010.46	34	chr2	196242133	.	A	G	1010.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.22;DP=268;ExcessHet=0;FS=0.855;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-0.756;SOR=0.83	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	6	0	1	0
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P,HSPE1-MOB4:NM_001202485:exon3:c.T193C:p.S65P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.00959765325218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.265e-05	0.0013	8.89e-05	9.642e-05	0.0001	7.932e-05	7.455e-05	9.055e-05	8.505e-05	3.135e-05	0	0.0001	0	0	0	0.0001	8.651e-05	8.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.053972	0.999993	0.81001	D	-1.795	0.00292	N	.	.	.	1.18	0.01107	N	0.438	0.48042	-0.9766	0.35772	T	0.034	0.14813	T	9	0.10651526	0.19742	T	0.009598	0.25107	T	0.267	0.58126	0.341	0.33302	0.043077524339	0.03247	0.669975451478545	0.66935	1.34794577022	0.84014	0.778468906879	0.78697	T	0.055673	0.30073	T	0.0500577	0.58352	T	-0.165872	0.57820	T	0.811242938041687	0.47136	D	0.892711	0.63097	D	0.20700711	0.42893	0.20881961	0.45200	0.20700711	0.42893	0.20881961	0.45199	-0.876	0.00872	T	.	.	0.084	0.09820	B	.;.	.;.	3.297964	0.45264	22.1	0.8980768734361223	0.19119	0.98559	0.84088	D	AEFBI	0.838587	0.75609	D	-0.516315308048682	0.21553	1.144632	-0.200201322439165	0.31530	1.785231	0.986724794269661	0.31114	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.652000	0.67632	7.608000	0.61804	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.399	0.66596	474	0.77851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	722.27	43	chr2	197523648	.	T	C	722.27	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.41;DP=335;ExcessHet=11.5949;FS=543.859;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=2.18;ReadPosRankSum=1.46;SOR=9.507	GT:AD:DP:GQ:PL	0/1:35,23:58:99:150,0,428	0	0	6	1
chr2	199819716	199819716	C	T	exonic	FTCDNL1	.	nonsynonymous SNV	FTCDNL1:NM_001350853:exon4:c.G253A:p.V85M,FTCDNL1:NM_001363886:exon4:c.G253A:p.V85M	.	430	1038	52	2	0	56	0.0262664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00758786	0.0224	0	0	0	.	0.0272	0	0.0223	0.0026908	416	154602	rs61751881	0.0077	0.0067	0.0063	0.0088	0.0243	0.0075	0.0074	0.0233	0.0229	0.0007	0.0018	0.0363	0	0.0004	0.0147	0.0049	0.0085	0.0243	0.0044	0.0045	0.0040	0.0049	0.0253	0.0042	0.0041	0.0216	0.0202	0.0008	0.0044	0.0031	0.0360	0.0004	0.0004	0.0204	0.0047	0.0066	0.0253	0.039	0.42487	D	0.156	0.32675	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.58	0.81987	D	-1.31	0.32791	N	0.114	0.10198	.	.	.	.	.	.	.	0.005957812	0.00134	T	.	.	.	.	.	.	.	.	.	0.41017121169101334	0.40933	.	.	0.414369285107	0.27061	T	0.413499	0.76734	T	-0.373465	0.03422	T	-0.290309	0.45740	T	.	.	.	0.741226	0.36032	T	0.044206727	0.07027	0.17805137	0.40449	0.044206727	0.07027	0.17805137	0.40448	-5.733	0.43986	T	.	.	0.155	0.34339	B	.;.	.;.	0.792175	0.11628	8.213	0.93346543586921327	0.23079	0.06193	0.12178	N	AEFDBI	0.079815	0.16128	N	.	.	.	.	.	.	0.972067605232243	0.29339	0.553676	0.25195	0	0.588015	0.36545	0	0.608075	0.38828	0	0.564101	0.26826	0	.	.	4.59	2.77	0.31614	0.256000	0.18120	-1.824000	0.04659	0.542000	0.25261	0.120000	0.23175	0.000000	0.08366	0.029000	0.12982	0.0:0.6286:0.1793:0.192	4.77	0.12523	648	0.63242	Formiminotransferase, N-terminal subdomain|Formiminotransferase, N-terminal subdomain;Formiminotransferase, N-terminal subdomain|Formiminotransferase, N-terminal subdomain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	716.63	37	chr2	199819716	.	C	T	716.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.62;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-0.009;SOR=0.628	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	6	0	1	0
chr2	199963803	199963803	T	A	exonic	MAIP1	.	nonsynonymous SNV	MAIP1:NM_024520:exon6:c.T868A:p.L290I	.	436	1061	24	1	0	26	0.0121043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	.	0.0075	0.00399361	0.0082	0.0021	0.0057	0	0.0037	0.0126	0.0147	0.0020	0.0081241	1256	154602	rs2118548	0.0098	0.0098	0.0098	0.0097	0.0166	0.0096	0.0096	0.0139	0.0129	0.0018	0.0068	0.0162	0	0.0044	0.0166	0.0112	0.0098	0.0014	0.0066	0.0066	0.0070	0.0063	0.0100	0.0063	0.0062	0.0094	0.0092	0.0018	0	0.0090	0.0161	0	0.0024	0.0136	0.0100	0.0123	0.0012	0.444	0.09155	T	0.246	0.23984	T	0.946	0.53363	P	0.619	0.51356	P	0.011281	0.29587	N	0.275015	0.55019	0.32126	D	.	.	.	0.52	0.55266	T	-0.04	0.07590	N	0.164	0.17828	-0.9537	0.40327	T	0.060	0.25273	T	10	0.006497383	0.00147	T	.	.	.	0.121	0.33580	.	.	0.415055319159	0.41122	0.3126203708908645	0.31175	0.745710789509	0.63506	.	.	.	0.020983	0.16419	T	-0.568858	0.00225	T	-0.578871	0.14646	T	0.0269243499581603	0.01533	T	0.465653	0.13651	T	0.026914597	0.01810	0.02722219	0.00861	0.026914597	0.01809	0.02722219	0.00860	-4.215	0.26968	T	.	.	0.261	0.50398	B	.;.	.;.	2.021321	0.25690	16.85	0.9833744055686604	0.40408	0.74941	0.36673	D	AEFBI	0.229736	0.35321	N	-0.362530873133364	0.26816	1.466363	-0.335764691557229	0.26953	1.492298	0.102570027400585	0.16419	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	6.05	-0.298	0.12179	-0.111000	0.10778	-0.972000	0.06742	-0.108000	0.15293	0.646000	0.28137	0.006000	0.19429	0.981000	0.58702	0.1308:0.3356:0.0:0.5335	4.945	0.13334	600	0.68026	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.023185	0.045918	0.028533	0.017544	0.000000	0.025862	0.018293	0.007576	0.07143	574.49	22	chr2	199963803	.	T	A	574.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.115;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.642;SOR=0.551	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1038	6	0	1	0
chr2	201487640	201487640	C	T	exonic	C2CD6	.	nonsynonymous SNV	C2CD6:NM_152525:exon15:c.G1844A:p.R615Q,C2CD6:NM_001168221:exon16:c.G5435A:p.R1812Q	.	447	1042	31	2	0	35	0.0165172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	0.0015	0.00319489	0.0022	0.0004	0.0003	0	0	0.0011	0.0044	0.0110	0.0019017	294	154602	rs34138250	0.0016	0.0016	0.0013	0.0020	0.0103	0.0016	0.0016	0.0097	0.0095	0.0003	0.0005	0.0007	2.525e-05	0	0.0077	0.0012	0.0020	0.0103	0.0012	0.0012	0.0009	0.0014	0.0141	0.0010	0.0010	0.0114	0.0104	0.0002	0	0.0007	0.0006	0	0	0.0102	0.0012	0.0014	0.0141	0.102	0.54683	T	0.33	0.42086	T	0.102	0.25827	B	0.037	0.23121	B	0.229612	0.03510	N	1.671310	1	0.08975	N	.	.	.	2.21	0.18414	T	-0.45	0.39503	N	0.097	0.22614	-0.9469	0.41498	T	0.031	0.13330	T	10	0.0040267706	0.00078	T	.	.	.	0.040	0.10527	.	.	0.0482279557977	0.04254	0.03339065480525237	0.03287	0.157486115895	0.17784	0.201904803514	0.00514	T	0.004516	0.03917	T	-0.719694	0.00028	T	-0.798605	0.01937	T	0.00210917860427071	0.00022	T	0.490951	0.15096	T	0.03175805	0.03073	0.057546932	0.10480	0.03175805	0.03073	0.057546932	0.10479	-3.449	0.16028	T	.	.	0.084	0.20857	B	.;.	.;.	-0.457584	0.02008	0.178	0.88441094531263342	0.17979	0.00373	0.01896	N	AEFDI	0.030746	0.03155	N	-1.25311526517915	0.04258	0.1918527	-1.32396881221201	0.04123	0.1937782	5.41221700921752E-5	0.04171	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.93	-3.2	0.04838	-2.211000	0.01310	.	.	-1.712000	0.00741	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.261:0.0:0.739	10.857	0.46011	460	0.78750	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.001359	0.000000	0.000000	0.000000	0.024390	0.011364	0.07143	763.44	34	chr2	201487640	.	C	T	763.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.73;DP=240;ExcessHet=0;FS=1.057;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-0.271;SOR=0.537	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1369	6	0	1	0
chr2	201492473	201492473	A	G	exonic	C2CD6	.	nonsynonymous SNV	C2CD6:NM_001168221:exon15:c.T3868C:p.F1290L	.	521	990	11	0	0	11	0.00552486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	.	0.00159744	0.0065	0.0006	0.0199	0	0	0.0015	0.0140	0.0130	0.0010349	160	154602	rs184129762	0.0015	0.0014	0.0011	0.0019	0.0143	0.0014	0.0014	0.0118	0.0114	0.0002	0.0010	3.989e-05	2.811e-05	5.722e-05	0.0143	0.0008	0.0018	0.0123	0.0010	0.0010	0.0008	0.0011	0.0108	0.0008	0.0008	0.0084	0.0076	0.0001	0.0055	0.0006	0	0	9.43e-05	0.0034	0.0010	0.0024	0.0108	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.24	0.36691	T	2.14	0.00347	N	0.066	0.03841	-0.9864	0.33494	T	0.034	0.14769	T	9	0.002725631	0.00042	T	.	.	.	0.042	0.11227	0.213	0.13210	0.0401082797425	0.02173	0.020741532748635407	0.02027	0.15686944455	0.17710	0.318503677845	0.13194	T	.	.	.	-0.712102	0.00031	T	-0.784631	0.02316	T	0.000877498213199432	0.00008	T	0.382862	0.09330	T	.	.	.	.	.	.	.	.	-3.04	0.10618	T	.	.	0.337	0.55713	B	.	.	0.905654	0.12797	9.314	0.71116001165546405	0.09520	0.00296	0.01581	N	AEFBI	0.022213	0.01082	N	-1.01495353258299	0.08293	0.3883259	-0.902287385471047	0.12041	0.6170562	2.09519457158267E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.23	2.04	0.25787	0.661000	0.24706	.	.	-0.274000	0.06627	0.001000	0.13787	0.970000	0.29701	0.899000	0.43558	0.2915:0.0:0.5406:0.1679	4.590	0.11694	572	0.70300	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009511	0.000000	0.000000	0.011905	0.000000	0.000000	0.017857	0.027027	0.07143	488.44	49	chr2	201492473	.	A	G	488.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.793;DP=227;ExcessHet=0;FS=1.092;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=0.302;SOR=0.507	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1115	6	0	1	0
chr2	201639004	201639004	T	C	exonic	TMEM237	.	nonsynonymous SNV	TMEM237:NM_001044385:exon3:c.A121G:p.T41A,TMEM237:NM_152388:exon3:c.A97G:p.T33A	Joubert syndrome 14, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00449771407059	.	.	0.0001	0	0	0.0019	0	0	0	0	2.59e-05	4	154602	rs772018656	9.777e-06	1.026e-05	1.245e-05	7.054e-06	0.0003	5.67e-06	4.44e-06	0.0002	0.0001	0	0	0	0.0003	0	0	0	3.364e-05	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	6.811e-05	2.851e-05	0	0	0	0	0.0004	0	0	0	0	0	0.338	0.13610	T	0.93	0.03652	T	.	.	.	.	.	.	0.440442	0.12634	N	0.762762	0.999966	0.18878	N	1.01	0.25309	L	1.05	0.39990	T	-0.27	0.11366	N	0.084	0.06059	-1.0180	0.24366	T	0.059	0.24575	T	10	0.0106996	0.00237	T	0.004498	0.11063	T	0.045	0.12272	.	.	0.0482279557977	0.04254	0.057957202544347344	0.05736	0.0390013711377	0.04153	0.315768450499	0.12780	T	0.002103	0.11022	T	-0.567753	0.00228	T	-0.676261	0.07214	T	0.194116830825806	0.20084	T	0.491951	0.15143	T	0.032095544	0.03170	0.029830338	0.01366	0.032095544	0.03170	0.029830338	0.01366	-3.476	0.17039	T	0.1017370110439488	0.07654	0.070	0.03588	B	.;.;.	.;.;.	1.161443	0.15504	11.90	0.70580487861937147	0.09342	0.28004	0.23435	N	AEFBI	0.020567	0.00825	N	-0.750935332774792	0.14608	0.7290945	-0.724746021999737	0.16345	0.8642422	0.976743100486456	0.29754	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.79	-4.34	0.03412	-0.178000	0.09775	.	.	0.665000	0.62972	0.956000	0.33378	0.005000	0.19230	0.957000	0.51019	0.1104:0.3421:0.3787:0.1689	3.673	0.07815	529	0.73716	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	871.49	34	chr2	201639004	.	T	C	871.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.196;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-0.336;SOR=0.646	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1165	6	0	1	0
chr2	201749770	201749770	T	C	exonic	ALS2	.	nonsynonymous SNV	ALS2:NM_020919:exon8:c.A1757G:p.N586S	Amyotrophic lateral sclerosis 2, juvenile, Autosomal recessive;Primary lateral sclerosis, juvenile, Autosomal recessive;Spastic paralysis, infantile onset ascending, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.699	0.302785914846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.021	0.58089	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.475	0.71894	M	-2.33	0.87910	D	-2.77	0.58733	D	0.878	0.87590	0.883	0.95439	D	0.836	0.94510	D	10	0.90134656	0.89496	D	0.302786	0.90937	D	0.699	0.89145	0.648	0.78542	0.90762253251	0.90670	0.9243449387440976	0.92411	0.756935020271	0.64057	0.556005895138	0.46704	T	0.735032	0.92614	D	0.10108	0.64409	D	-0.092582	0.63967	T	0.972458839416504	0.69706	D	0.958704	0.84427	D	0.22294502	0.44904	0.22882636	0.47936	0.22294502	0.44904	0.22882636	0.47935	-9.28	0.69481	D	0.7293150021942796	0.81092	0.248	0.48240	B	.	.	4.620037	0.73354	26.0	0.99901159905350156	0.97275	0.97304	0.73911	D	AEFBI	0.630751	0.61198	D	0.752342396342633	0.83058	7.918678	0.73670136201167	0.85159	8.498539	0.999996644077807	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.87	5.87	0.94266	5.156000	0.64751	.	.	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.576	0.84532	207	0.91931	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	36	chr2	201749770	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1182	6	1	0	0
chr2	202821479	202821479	T	C	exonic	ICA1L	.	nonsynonymous SNV	ICA1L:NM_001288624:exon3:c.A238G:p.I80V,ICA1L:NM_001288622:exon4:c.A238G:p.I80V,ICA1L:NM_001288623:exon4:c.A238G:p.I80V,ICA1L:NM_138468:exon5:c.A238G:p.I80V	.	437	1050	33	2	0	37	0.017314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	.	0.0027	0.00299521	0.0038	0.0009	0.0046	0	0	0.0044	0.0078	0.0061	0.0037451	579	154602	rs144482724	0.0035	0.0035	0.0033	0.0036	0.0155	0.0034	0.0033	0.0129	0.0120	0.0010	0.0042	0.0112	2.535e-05	0.0004	0.0155	0.0033	0.0043	0.0062	0.0028	0.0028	0.0030	0.0026	0.0039	0.0026	0.0025	0.0035	0.0034	0.0009	0	0.0029	0.0098	0	0.0006	0.0170	0.0039	0.0062	0.0039	0.035	0.50676	D	0.008	0.72224	D	0.004	0.12183	B	0.009	0.14300	B	0.000505	0.43753	N	0.209861	1	0.81001	D	0.69	0.16971	N	-1.04	0.76561	T	-0.85	0.24026	N	0.095	0.07535	-0.9435	0.42057	T	0.114	0.40605	T	10	0.010987043	0.00242	T	.	.	.	0.161	0.41658	.	.	0.65404562455	0.65116	0.2827756610626727	0.28190	0.127220965103	0.14337	0.415514528751	0.27218	T	0.053694	0.29549	T	-0.424201	0.01609	T	-0.378944	0.35847	T	0.00587731285849128	0.00064	T	0.578142	0.21082	T	0.058083612	0.11641	0.074363604	0.16259	0.058083612	0.11641	0.074363604	0.16259	-3.237	0.26286	T	.	.	0.088	0.14293	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	2.060043	0.26190	17.03	0.98756593559104555	0.45739	0.80609	0.40202	D	AEFI	0.445910	0.50219	N	-0.394280166996794	0.25672	1.395341	-0.23245328244914	0.30381	1.710069	9.56336154837546E-4	0.08054	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.84	2.03	0.25714	-0.059000	0.11688	.	.	0.665000	0.62972	0.232000	0.24664	0.696000	0.26205	0.999000	0.91618	0.1493:0.1653:0.1552:0.5302	1.124	0.01624	754	0.51307	Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;.;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016129	0.015152	0.013587	0.014620	0.000000	0.017241	0.027607	0.015152	0.08333	155.27	26	chr2	202821479	.	T	C	155.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.61;DP=175;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.75;ReadPosRankSum=0.518;SOR=1.022	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,978	5	0	1	1
chr2	202952598	202952598	C	T	exonic	CARF	.	nonsynonymous SNV	CARF:NM_001282912:exon3:c.C82T:p.R28C,CARF:NM_001282910:exon4:c.C118T:p.R40C,CARF:NM_001322429:exon4:c.C310T:p.R104C,CARF:NM_001352677:exon4:c.C40T:p.R14C,CARF:NM_001104586:exon5:c.C346T:p.R116C,CARF:NM_001282911:exon5:c.C118T:p.R40C,CARF:NM_001322428:exon5:c.C346T:p.R116C,CARF:NM_001322427:exon6:c.C346T:p.R116C,CARF:NM_024744:exon6:c.C346T:p.R116C	.	441	1070	11	0	0	11	0.0051139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.0109573943316	0.0003	0.000199681	0.0005	0.0002	0.0015	0	0	0.0003	0.0022	0.0008	0.0004463	69	154602	rs192573972	0.0003	0.0003	0.0003	0.0003	0.0168	0.0003	0.0003	0.0141	0.0131	0.0004	0.0015	0	0	0	0.0168	0.0001	0.0005	0.0008	0.0004	0.0004	0.0004	0.0004	0.0016	0.0003	0.0003	0.0011	0.0010	0	0.0055	0.0016	0	0	0	0.0136	0.0002	0.0019	0.0008	0.011	0.72154	D	0.039	0.79402	D	0.995	0.73220	D	0.648	0.55529	P	0.050544	0.23060	N	0.366056	0.94809	0.39125	D	1.95	0.52479	M	.	.	.	-1.34	0.78891	N	0.463	0.58713	-0.2644	0.75967	T	0.353	0.71681	T	9	0.020588279	0.00477	T	0.010957	0.28083	T	0.194	0.47447	.	.	0.273503213844	0.26977	0.42086041258074336	0.42002	0.741878754513	0.63308	0.21025967598	0.00822	T	0.183861	0.53634	T	-0.268994	0.11869	T	-0.20472	0.54200	T	0.0734380806585915	0.09126	T	0.953805	0.83996	D	0.14000247	0.32318	0.08636636	0.20004	0.14000247	0.32317	0.08636636	0.20003	-7.341	0.56487	T	.	.	0.103	0.38080	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.008320	0.83146	28.0	0.99912041254882966	0.98095	0.90417	0.51576	D	AEFI	0.604286	0.59544	D	0.54030736074692	0.69492	5.364863	0.557127502577207	0.71893	5.724977	0.997466032780412	0.35646	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.46	5.46	0.80021	3.003000	0.49192	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	18.287	0.90059	505	0.75648	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012085	0.000000	0.016304	0.026316	0.000000	0.034483	0.000000	0.000000	0.07143	737.63	33	chr2	202952598	.	C	T	737.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.36;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=0.979;SOR=0.641	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,930	6	0	1	0
chr2	202961316	202961316	C	A	exonic	CARF	.	nonsynonymous SNV	CARF:NM_001282912:exon6:c.C458A:p.T153K,CARF:NM_001352676:exon6:c.C164A:p.T55K,CARF:NM_001282910:exon7:c.C494A:p.T165K,CARF:NM_001322429:exon7:c.C686A:p.T229K,CARF:NM_001352677:exon7:c.C416A:p.T139K,CARF:NM_001104586:exon8:c.C722A:p.T241K,CARF:NM_001282911:exon8:c.C494A:p.T165K,CARF:NM_001322428:exon8:c.C722A:p.T241K,CARF:NM_001322427:exon9:c.C722A:p.T241K,CARF:NM_024744:exon9:c.C722A:p.T241K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.011756043029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.91255	D	0.0	0.92824	D	0.898	0.90584	P	0.507	0.92359	P	0.000001	0.84330	D	0.000000	0.99998	0.81001	D	1.645	0.42016	L	.	.	.	-3.66	0.82764	D	0.831	0.91505	-0.4735	0.69602	T	0.306	0.67685	T	9	0.6397844	0.68990	D	0.011756	0.29704	T	0.279	0.59619	0.348	0.34436	0.433600339574	0.42977	0.8586215888562365	0.85825	0.85370292488	0.68666	0.743530035019	0.73492	T	0.531711	0.83806	D	0.416712	0.90846	D	0.360802	0.90732	D	0.984222710132599	0.75606	D	0.892211	0.65471	D	0.6259339	0.74081	0.5369205	0.73239	0.6259339	0.74082	0.5369205	0.73240	-15.56	0.97026	D	.	.	0.969	0.90070	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.741017	0.76452	26.5	0.99153675350557746	0.53875	0.98548	0.83964	D	AEFBI	0.735238	0.68111	D	0.514417912778016	0.67943	5.149421	0.569386653376091	0.72757	5.860333	0.999731772947716	0.42341	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.31	5.31	0.75063	6.068000	0.70838	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.965	0.89017	485	0.77085	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	28	chr2	202961316	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=181;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1023	6	1	0	0
chr2	203057335	203057335	A	-	exonic	NBEAL1	.	frameshift deletion	NBEAL1:NM_001114132:exon6:c.397delA:p.E136Rfs*14,NBEAL1:NM_001378026:exon6:c.397delA:p.E136Rfs*14	.	444	1055	22	1	0	24	0.0112465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0133	.	0.0092	0.0049	0.0027	0.0210	0.0006	0.0173	0.0129	0.0018	0.0015912	246	154602	rs749661669	0.0002	0.0036	0.0001	0.0002	0.0006	0.0001	0.0001	0.0004	0.0004	0.0003	0.0006	4.127e-05	5.745e-05	0.0002	0.0002	0.0001	0.0002	0.0005	3.406e-05	5.348e-05	1.325e-05	5.61e-05	6.801e-05	1.296e-05	8.24e-06	8.3e-06	3.11e-06	5.011e-05	0	6.801e-05	0	0	0	0	1.504e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	34.4	34	chr2	203057334	.	CA	C	34.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.88;ReadPosRankSum=0.524;SOR=0.368	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1152	6	0	1	0
chr2	203489634	203489634	T	C	exonic	RAPH1	.	nonsynonymous SNV	RAPH1:NM_001329728:exon4:c.A682G:p.T228A,RAPH1:NM_203365:exon4:c.A682G:p.T228A,RAPH1:NM_213589:exon4:c.A682G:p.T228A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.00788056028626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.51853	T	0.22	0.26066	T	0.0	0.02946	B	0.001	0.08700	B	0.303161	0.14562	N	0.610679	1	0.08975	N	1.355	0.33814	L	0.96	0.44856	T	-1.76	0.45587	N	0.053	0.13198	-1.0291	0.20746	T	0.077	0.30859	T	10	0.05994624	0.07287	T	0.007881	0.20903	T	0.096	0.27654	0.128	0.03331	0.300371490279	0.29641	0.2674244279367688	0.26655	0.222689188516	0.24806	0.302903115749	0.10835	T	0.290483	0.66325	T	-0.287064	0.09932	T	-0.650124	0.08945	T	0.0429314263164997	0.04225	T	0.635836	0.25103	T	0.060910147	0.12554	0.06240599	0.12205	0.060910147	0.12554	0.06240599	0.12205	-3.65	0.21059	T	.	.	0.071	0.07036	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.547523	0.19836	14.46	0.96414788638314131	0.29737	0.67097	0.33309	D	AEFBI	0.154944	0.28006	N	-0.591629990298605	0.19197	1.002863	-0.518845938930486	0.21642	1.171712	0.793037790096778	0.24048	0.67177	0.52595	0	0.573888	0.26702	0	0.608884	0.39905	0	0.711	0.71501	0	.	.	5.78	0.732	0.17433	1.018000	0.29604	0.960000	0.22984	0.665000	0.62972	0.655000	0.28216	0.921000	0.28324	0.998000	0.85391	0.0:0.259:0.0:0.741	9.722	0.39474	362	0.84826	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	922.49	28	chr2	203489634	.	T	C	922.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.88;DP=217;ExcessHet=0;FS=2.132;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=1.58;SOR=0.99	GT:AD:DP:GQ:PL	0/1:30,36:66:99:933,0,664	6	0	1	0
chr2	205121734	205121734	A	G	exonic	PARD3B	.	nonsynonymous SNV	PARD3B:NM_001302769:exon8:c.A950G:p.K317R,PARD3B:NM_057177:exon8:c.A950G:p.K317R,PARD3B:NM_152526:exon8:c.A950G:p.K317R,PARD3B:NM_205863:exon8:c.A950G:p.K317R	.	427	1054	38	3	0	44	0.0204461	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	.	0.0077	0.00399361	0.0100	0.0018	0.0079	0.0001	0.0194	0.0122	0.0156	0.0084	0.0094242	1457	154602	rs34751010	0.0094	0.0094	0.0095	0.0094	0.0097	0.0093	0.0093	0.0095	0.0095	0.0012	0.0085	0.0098	0	0.0202	0.0080	0.0097	0.0091	0.0081	0.0085	0.0085	0.0075	0.0096	0.0135	0.0081	0.0080	0.0120	0.0114	0.0020	0	0.0135	0.0072	0	0.0230	0.0034	0.0101	0.0057	0.0087	0.352	0.20988	T	0.377	0.20293	T	0.999	0.77913	D	0.934	0.66904	D	0.001228	0.39743	N	0.310878	0.861115	0.35389	D	2.745	0.80253	M	2.81	0.12676	T	-1.12	0.36586	N	0.106	0.14763	-1.0752	0.08307	T	0.050	0.21222	T	10	0.0037246644	0.00069	T	.	.	.	0.096	0.27654	.	.	0.616761936004	0.61366	0.4155427964779092	0.41470	0.113105756222	0.12766	0.352143228054	0.18237	T	0.007807	0.19946	T	-0.54623	0.00307	T	-0.548003	0.17517	T	0.0606935169938421	0.07277	T	0.848615	0.56452	T	0.098663405	0.23273	0.072318226	0.15587	0.102595545	0.24243	0.072318226	0.15587	-4.998	0.39456	T	.	.	0.071	0.07318	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.798074	0.36800	20.3	0.96045181691328541	0.28547	0.96364	0.68777	D	AEFBI	0.504078	0.53580	D	0.256064878661307	0.53938	3.560899	0.266829727106604	0.53611	3.529374	0.979170096522301	0.29999	0.615465	0.37627	0	0.573888	0.26702	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	6.03	4.81	0.61401	3.732000	0.54746	6.778000	0.56577	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.026000	0.12556	0.8727:0.0:0.0:0.1273	12.236	0.53832	896	0.25515	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013092	0.015152	0.017663	0.005848	0.000000	0.025862	0.009146	0.007576	0.07143	1313.46	35	chr2	205121734	.	A	G	1313.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.747;DP=296;ExcessHet=0;FS=4.875;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-0.983;SOR=0.345	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1089	6	0	1	0
chr2	205176520	205176520	A	G	exonic	PARD3B	.	nonsynonymous SNV	PARD3B:NM_152526:exon12:c.A1681G:p.N561D,PARD3B:NM_001302769:exon13:c.A1867G:p.N623D,PARD3B:NM_057177:exon13:c.A1867G:p.N623D,PARD3B:NM_205863:exon13:c.A1867G:p.N623D	.	430	1056	33	3	0	39	0.0181311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0078	0.00399361	0.0100	0.0018	0.0080	0.0001	0.0199	0.0123	0.0156	0.0081	0.0094889	1467	154602	rs192810274	0.0094	0.0094	0.0094	0.0093	0.0096	0.0092	0.0092	0.0095	0.0094	0.0012	0.0084	0.0096	0	0.0200	0.0078	0.0096	0.0090	0.0077	0.0085	0.0085	0.0075	0.0095	0.0135	0.0081	0.0079	0.0120	0.0114	0.0019	0	0.0135	0.0075	0	0.0232	0.0034	0.0101	0.0052	0.0081	0.112	0.37750	T	0.277	0.23570	T	0.839	0.46454	P	0.159	0.34693	B	0.003579	0.34767	N	0.285942	0.805457	0.29064	N	2.14	0.59869	M	2.92	0.12055	T	-2.19	0.51157	N	0.21	0.23380	-1.1142	0.02733	T	0.028	0.12058	T	10	0.0054169893	0.00119	T	.	.	.	0.038	0.09825	.	.	0.530060385853	0.52655	0.2708874988284292	0.27001	0.0444375090986	0.04792	0.407303154469	0.26083	T	0.012519	0.26591	T	-0.615441	0.00117	T	-0.64742	0.09135	T	0.0292316716135602	0.01873	T	0.837116	0.50934	T	0.1305617	0.30461	0.16406474	0.38026	0.110935315	0.26217	0.16406474	0.38025	-3.019	0.10497	T	.	.	0.099	0.16713	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.384234	0.30609	18.49	0.96623203055740303	0.30488	0.86833	0.46202	D	AEFBI	0.265501	0.38262	N	-0.212805906985755	0.32607	1.840782	-0.120715840194098	0.34556	1.989062	0.339713565186617	0.19571	0.615465	0.37627	0	0.573888	0.26702	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	6.03	3.5	0.39181	3.156000	0.50406	1.925000	0.29735	-0.095000	0.16041	1.000000	0.71638	0.648000	0.25949	0.932000	0.46971	0.7236:0.2764:0.0:0.0	12.516	0.55377	847	0.35998	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012085	0.015152	0.016304	0.005848	0.000000	0.025862	0.009146	0.007576	0.07143	585.63	33	chr2	205176520	.	A	G	585.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.206;DP=265;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.3;ReadPosRankSum=-1.06;SOR=0.624	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1104	6	0	1	0
chr2	205176532	205176532	A	G	exonic	PARD3B	.	nonsynonymous SNV	PARD3B:NM_152526:exon12:c.A1693G:p.I565V,PARD3B:NM_001302769:exon13:c.A1879G:p.I627V,PARD3B:NM_057177:exon13:c.A1879G:p.I627V,PARD3B:NM_205863:exon13:c.A1879G:p.I627V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00138797596905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.06944	B	0.375088	0.04386	N	1.375020	1	0.08975	N	0.235	0.09667	N	3.12	0.09728	T	0.01	0.06868	N	0.021	0.04790	-0.9972	0.30701	T	0.011	0.04088	T	10	0.034350485	0.01639	T	0.001388	0.02037	T	0.010	0.01040	0.21	0.12781	0.190952846119	0.18690	0.20569266747223547	0.20486	0.021007098256	0.02077	0.242679297924	0.03036	T	8.42E-4	0.02535	T	-0.423556	0.01624	T	-0.846185	0.01010	T	0.0431225457715316	0.04260	T	0.194181	0.02102	T	0.023502624	0.01096	0.021783553	0.00219	0.023502624	0.01096	0.021783553	0.00219	-3.016	0.11342	T	.	.	0.068	0.03588	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-1.031164	0.00728	0.022	0.15179478847219136	0.00362	0.02076	0.06179	N	AEFBI	0.034073	0.04156	N	-1.60542362540297	0.01238	0.05383408	-1.7265110357808	0.01025	0.04597314	0.999999627889841	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.36	-10.7	0.00191	-2.014000	0.01537	-1.808000	0.04688	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.612000	0.31691	0.1276:0.3937:0.2087:0.2701	2.317	0.03943	847	0.35998	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	789.53	33	chr2	205176532	.	A	G	789.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.297;DP=270;ExcessHet=0;FS=0.793;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.58;ReadPosRankSum=-0.893;SOR=0.838	GT:AD:DP:GQ:PL	0/1:53,39:92:99:800,0,1206	6	0	1	0
chr2	205401024	205401024	A	G	exonic	PARD3B	.	nonsynonymous SNV	PARD3B:NM_057177:exon18:c.A2435G:p.K812R,PARD3B:NM_152526:exon18:c.A2456G:p.K819R,PARD3B:NM_001302769:exon19:c.A2642G:p.K881R,PARD3B:NM_205863:exon19:c.A2642G:p.K881R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0147362471348	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1159173231	7.61e-06	8.209e-06	8.231e-06	6.978e-06	0.0016	4.08e-06	2.99e-06	0.0008	0.0006	0	0	0	0	0	0.0016	0	3.335e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.21385	T	0.397	0.19131	T	0.997	0.90584	D	0.98	0.86255	D	0.000000	0.84330	D	0.000000	0.627757	0.35566	D	2.67	0.78151	M	1.31	0.35405	T	-0.49	0.17417	N	0.247	0.28849	-0.5377	0.67251	T	0.200	0.55667	T	10	0.23977852	0.41124	T	0.014736	0.35052	T	0.102	0.29158	0.264	0.20946	0.675459934904	0.67270	0.036085109179377725	0.03555	0.17661787198	0.19876	0.511968076229	0.40498	T	0.024778	0.26443	T	-0.0962828	0.37041	T	-0.37608	0.36179	T	0.787106335163116	0.45501	D	0.838916	0.57764	T	0.17971659	0.39056	0.14941572	0.35280	0.17971659	0.39056	0.14941572	0.35279	-5.876	0.46546	T	.	.	0.085	0.20196	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.054414	0.60118	24.2	0.99756772503418789	0.84694	0.93924	0.59587	D	AEFDI	0.513394	0.54121	D	0.569030307686825	0.71249	5.622129	0.529314811013291	0.69971	5.437131	0.999999588428724	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.45	5.45	0.79688	3.081000	0.49818	11.173000	0.88038	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	1.0:0.0:0.0:0.0	14.043	0.64210	896	0.25515	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.005051	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	667.63	33	chr2	205401024	.	A	G	667.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.534;DP=219;ExcessHet=0;FS=2.268;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=0.14;SOR=0.402	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1030	6	0	1	0
chr2	205794867	205794867	A	G	exonic	NRP2	.	nonsynonymous SNV	NRP2:NM_201279:exon16:c.A2539G:p.I847V,NRP2:NM_003872:exon17:c.A2590G:p.I864V,NRP2:NM_201266:exon17:c.A2605G:p.I869V	.	421	1099	2	0	0	2	0.000909091	.	.	.	3209075	NRP2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.521	0.0450837776206	0.0007	0.000399361	0.0002	0.0015	8.637e-05	0	0	2.997e-05	0	0	0.0001358	21	154602	rs143404274	3.215e-05	3.283e-05	3.267e-05	3.163e-05	0.0011	2.478e-05	2.22e-05	0.0008	0.0007	0.0011	8.944e-05	0	0	0	0	3.597e-06	3.312e-05	0	0.0004	0.0004	0.0004	0.0004	0.0013	0.0003	0.0003	0.0010	0.0009	0.0013	0	0.0004	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.592	0.77913	P	0.526	0.83170	P	0.000003	0.62929	D	0.121077	0.999991	0.58761	D	1.895	0.50365	L	-2.54	0.89627	D	-0.36	0.13035	N	0.557	0.68429	0.802	0.94438	D	0.824	0.94089	D	10	0.053697556	0.05601	T	0.045084	0.61808	D	0.521	0.79643	.	.	0.946076075654	0.94550	0.5414349632738905	0.54068	0.749077089882	0.63671	0.676406085491	0.63754	T	0.205255	0.56426	T	-0.0523391	0.44091	T	0.138812	0.79467	D	0.109897969025837	0.13413	T	0.968703	0.89491	D	0.11425602	0.26977	0.21562846	0.46159	0.11425602	0.26976	0.21562846	0.46158	-5.602	0.43880	T	.	.	0.170	0.48807	B	.;.;.	.;.;.	4.630863	0.73628	26.0	0.99911297701738611	0.98095	0.95200	0.63808	D	AEFDBI	0.800118	0.72619	D	0.728551269020243	0.81503	7.537711	0.760490304480569	0.86941	9.052909	0.999999959462271	0.74766	0.706548	0.73137	0	0.627178	0.54094	0	0.786243	0.99158	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	7.568000	0.81546	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.822	0.85699	908	0.22609	Neuropilin, C-terminal;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	1253.44	39	chr2	205794867	.	A	G	1253.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.197;DP=327;ExcessHet=0;FS=6.431;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=1.67;SOR=1.217	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1336	6	0	1	0
chr2	206958367	206958367	T	C	exonic	CPO	.	nonsynonymous SNV	CPO:NM_173077:exon4:c.T334C:p.W112R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.522	0.0220376108331	.	.	.	.	.	.	.	.	.	.	.	.	.	rs141746067	6.896e-07	1.368e-06	1.372e-06	0	1.191e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.191e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999211	0.46353	D	4.625	0.99315	H	2.57	0.13552	T	-13.44	0.99936	D	0.938	0.94432	-0.6655	0.62031	T	0.151	0.47874	T	10	0.9799401	0.97942	D	0.022038	0.44885	T	0.522	0.79704	0.898	0.97685	0.355450299083	0.35149	0.9647613687670129	0.96463	0.647322018576	0.58114	0.726120710373	0.70940	T	0.092753	0.39070	T	0.250205	0.78621	D	0.121626	0.78343	D	0.996542394161224	0.89565	D	0.910709	0.68343	D	0.95120174	0.96388	0.933755	0.97352	0.95120174	0.96388	0.933755	0.97352	-12.862	0.88786	D	.	.	0.987	0.92844	P	.	.	4.919156	0.81005	27.4	0.9963423509881576	0.76264	0.97704	0.76535	D	AEFDIJ	0.836364	0.75413	D	0.898565004188186	0.91689	11.01271	0.800676274404131	0.89839	10.14363	0.998783523313341	0.37667	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.01	5.01	0.66477	7.635000	0.82446	4.714000	0.44471	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.0:1.0	12.708	0.56440	272	0.89337	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase O	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2152.44	33	chr2	206958367	.	T	C	2152.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.742;DP=368;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=1.45;SOR=0.693	GT:AD:DP:GQ:PL	0/1:90,96:186:99:2163,0,2080	6	0	1	0
chr2	208001338	208001338	G	C	exonic	PLEKHM3	.	nonsynonymous SNV	PLEKHM3:NM_001080475:exon2:c.C302G:p.T101R	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.468	0.0306002694738	.	.	0.0001	0	8.655e-05	0	0	0	0	0.0008	9.06e-05	14	154602	rs769020807	5.062e-05	5.062e-05	2.042e-05	8.113e-05	0.0008	4.125e-05	3.778e-05	0.0007	0.0006	0	0	0	0	0	0	0	1.656e-05	0.0008	2.628e-05	2.626e-05	0	5.379e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.022	0.63226	D	0.178	0.29639	T	0.954	0.65571	P	0.726	0.55126	P	0.000260	0.46924	D	0.141721	0.992537	0.41672	D	0.975	0.24501	L	-1.78	0.84047	D	-1.19	0.36787	N	0.47	0.50598	0.152	0.85090	D	0.534	0.82728	D	10	0.11745027	0.22181	T	0.031	0.52874	D	0.468	0.76289	0.309	0.28128	0.500921690253	0.49727	0.3415314045824439	0.34066	0.28602195282	0.31010	0.531759917736	0.43283	T	0.011199	0.10021	T	-0.15218	0.27970	T	-0.0731554	0.65400	T	0.207968454464426	0.20847	T	.	.	.	0.18311903	0.39564	0.20095709	0.44052	0.18311903	0.39564	0.20095709	0.44051	-3.336	0.14206	T	.	.	0.079	0.14477	B	.;.	.;.	2.884207	0.38179	20.7	0.99021265990978269	0.50591	0.95984	0.67010	D	AEFDBI	0.452057	0.50577	N	0.52871154290749	0.68797	5.266628	0.575437194691669	0.73183	5.929053	0.999964525443907	0.48965	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.56	4.67	0.58089	5.413000	0.66140	4.524000	0.43698	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0699:0.0:0.9301:0.0	15.396	0.74519	797	0.45241	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1773.45	34	chr2	208001338	.	G	C	1773.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.09;DP=336;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.409;SOR=0.746	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1060	6	0	1	0
chr2	210028899	210028899	A	G	exonic	KANSL1L	.	nonsynonymous SNV	KANSL1L:NM_001307976:exon10:c.T2216C:p.L739S,KANSL1L:NM_152519:exon11:c.T2342C:p.L781S	.	430	1079	13	0	0	13	0.00598802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	0.0141842735507	0.0010	0.000798722	0.0011	0	8.649e-05	0	0.0003	0.0015	0.0011	0.0018	0.001009	156	154602	rs143543856	0.0010	0.0010	0.0010	0.0011	0.0026	0.0010	0.0010	0.0016	0.0013	0.0001	0.0004	0.0030	0	0.0003	0.0026	0.0011	0.0012	0.0012	0.0010	0.0010	0.0010	0.0010	0.0015	0.0009	0.0008	0.0013	0.0012	0.0002	0.0011	0.0013	0.0026	0	9.411e-05	0.0034	0.0015	0.0009	0.0010	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.006088	0.32280	N	0.138557	0.999411	0.46970	D	2.52	0.73523	M	.	.	.	-3.82	0.71997	D	0.852	0.84817	-0.1820	0.78131	T	0.400	0.75159	T	9	0.1476292	0.27970	T	0.014184	0.34122	T	0.437	0.74164	.	.	0.41518383557	0.41130	0.6112754531062813	0.61059	0.460446982877	0.45603	0.740376651287	0.73028	T	0.110799	0.42579	T	-0.028046	0.47701	T	0.167923	0.81284	D	0.0471568157848344	0.04992	T	0.90031	0.65830	D	0.4596083	0.64646	0.48987055	0.70485	0.4596083	0.64647	0.48987055	0.70486	-9.769	0.74312	D	.	.	0.897	0.89971	P	.;.	.;.	4.368632	0.67236	25.1	0.99870360619912213	0.94815	0.93253	0.57725	D	AEFBCI	0.830016	0.74882	D	0.729984214142311	0.81600	7.55995	0.708279422355541	0.83008	7.910291	0.999699200712967	0.41870	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.592323	0.36904	0	.	.	5.19	5.19	0.71428	7.903000	0.86133	8.139000	0.76678	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.713	0.68862	735	0.53711	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.006793	0.002924	0.000000	0.000000	0.006098	0.000000	0.07143	685.63	35	chr2	210028899	.	A	G	685.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.306;DP=236;ExcessHet=0;FS=0.929;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=0.157;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1048	6	0	1	0
chr2	210556738	210556738	C	T	exonic	CPS1	.	nonsynonymous SNV	CPS1:NM_001875:exon1:c.C5T:p.T2M,CPS1:NM_001122633:exon2:c.C5T:p.T2M,CPS1:NM_001369256:exon2:c.C38T:p.T13M,CPS1:NM_001369257:exon3:c.C5T:p.T2M	Carbamoylphosphate synthetase I deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	284537	Inborn_genetic_diseases|not_provided|Congenital_hyperammonemia,_type_I	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.416	0.183816231014	0.0003	.	6.609e-05	0.0002	0	0	0	9.005e-05	0	0	5.17e-05	8	154602	rs150314086	8.491e-05	8.482e-05	8.585e-05	8.397e-05	0.0003	7.216e-05	6.803e-05	0.0002	0.0001	0.0002	0.0003	0.0010	5.042e-05	0.0001	0.0002	4.591e-05	0.0002	5.802e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0003	0.0009	0	0.0002	0	8.831e-05	0.0010	0	0.025	0.50676	D	0.0	0.92824	D	0.076	0.24253	B	0.01	0.14941	B	0.000065	0.52346	D	0.169407	0.994951	0.42484	D	0.975	0.24501	L	-3.39	0.97849	D	-0.68	0.19509	N	0.297	0.33578	0.529	0.90949	D	0.809	0.93568	D	10	0.2185871	0.38504	T	0.183816	0.85709	D	0.416	0.72631	.	.	0.942754961114	0.94215	0.6262863075733556	0.62561	0.814303318369	0.66875	0.619242668152	0.55623	T	0.013996	0.61784	T	-0.0713926	0.41103	T	-0.0103257	0.69663	D	0.0609135297966567	0.07311	T	0.864413	0.56300	D	0.063459486	0.13363	0.07761905	0.17308	0.063459486	0.13362	0.07761905	0.17308	-4.943	0.36215	T	.	.	0.262	0.49616	B	.;.;.;.;.;.	.;.;.;.;.;.	3.842057	0.55601	23.6	0.99856567355917891	0.93548	0.76365	0.37447	D	AEFBHCI	0.724105	0.67351	D	-0.124983076989101	0.36307	2.096869	0.0624972994517336	0.42681	2.585748	0.999999967756711	0.74766	0.653281	0.48532	0	0.588015	0.36545	0	0.675528	0.61593	0	0.567892	0.33627	0	.	.	5.78	4.9	0.63643	2.284000	0.43140	4.069000	0.41649	-0.173000	0.11020	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.9203:0.0:0.0797	12.256	0.53939	239	0.90673	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	851.44	57	chr2	210556738	.	C	T	851.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.86;DP=240;ExcessHet=0;FS=1.032;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=-1.296;SOR=0.882	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	6	0	1	0
chr2	211386934	211386934	C	T	exonic	ERBB4	.	nonsynonymous SNV	ERBB4:NM_001042599:exon26:c.G3352A:p.V1118M,ERBB4:NM_005235:exon27:c.G3400A:p.V1134M	Amyotrophic lateral sclerosis 19, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1894968	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.205	0.0388010789466	.	0.000399361	9.885e-05	9.61e-05	0	0.0001	0	7.493e-05	0	0.0003	9.7e-05	15	154602	rs139785964	8.482e-05	8.482e-05	8.44e-05	8.526e-05	0.0002	7.209e-05	6.796e-05	0.0001	8.645e-05	5.974e-05	4.472e-05	0	7.557e-05	0	0	8.363e-05	0.0001	0.0002	4.597e-05	4.593e-05	3.856e-05	5.372e-05	0.0004	2.108e-05	1.526e-05	7.301e-05	3.033e-05	2.407e-05	0	0	0	0	9.423e-05	0	4.41e-05	0	0.0004	0.083	0.33091	T	0.222	0.25748	T	0.918	0.50838	P	0.306	0.47728	B	0.005171	0.33034	N	0.284396	0.895023	0.36038	D	1.975	0.53506	M	-0.95	0.75438	T	-0.91	0.24460	N	0.177	0.19055	-0.1327	0.79338	T	0.384	0.74024	T	10	0.1173386	0.22157	T	0.038801	0.58435	D	0.205	0.49236	.	.	0.782325246824	0.78031	0.224209269266772	0.22335	0.609326213147	0.55669	0.668420612812	0.62612	T	0.292142	0.79083	T	-0.283732	0.10276	T	-0.353189	0.38839	T	0.0935367088903235	0.11631	T	0.970903	0.91743	D	0.10710338	0.25325	0.08733267	0.20293	0.10710338	0.25324	0.08733267	0.20292	-4.981	0.37239	T	.	.	0.143	0.31456	B	.;.;.	.;.;.	3.808959	0.54931	23.5	0.99851981392829825	0.93102	0.97818	0.77359	D	AEFI	0.607833	0.59764	D	0.359151783284693	0.59225	4.10011	0.391634413770201	0.61050	4.299672	0.991234053280696	0.32418	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.631631	0.49550	0	.	.	5.6	4.73	0.59485	4.566000	0.60559	.	.	0.599000	0.40250	0.996000	0.39380	0.999000	0.35428	0.957000	0.51019	0.0:0.9285:0.0:0.0715	14.233	0.65448	518	0.74548	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	805.44	33	chr2	211386934	.	C	T	805.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.636;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=0.709;SOR=0.616	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1247	6	0	1	0
chr2	214781125	214781125	G	T	exonic	BARD1	.	nonsynonymous SNV	BARD1:NM_001282543:exon3:c.C692A:p.S231Y,BARD1:NM_000465:exon4:c.C749A:p.S250Y	.	.	.	.	.	.	.	.	.	.	YES	1024117	Familial_cancer_of_breast	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.064	0.0338457612474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.23905	T	0.726	0.05327	T	0.003	0.11197	B	0.001	0.04355	B	0.416541	0.04622	N	1.323060	1	0.08975	N	0	0.06538	N	-0.72	0.72994	T	-0.93	0.24898	N	0.126	0.17691	-0.9830	0.34305	T	0.146	0.47021	T	10	0.085078746	0.14328	T	0.033846	0.55269	D	0.064	0.18567	0.408	0.44230	0.626257759281	0.62321	0.08705939196531197	0.08639	0.1002850897	0.11338	0.255554139614	0.04375	T	0.078713	0.35958	T	-0.162956	0.26305	T	-0.471852	0.25316	T	0.0268054372179205	0.01516	T	0.658834	0.26791	T	0.03484109	0.03989	0.032462772	0.01986	0.03484109	0.03988	0.032462772	0.01985	-6.63	0.51282	T	.	.	0.096	0.23952	B	.;.	.;.	0.523831	0.08927	5.706	0.6623200468618865	0.07999	0.04099	0.09565	N	AEFBI	0.027985	0.02383	N	-1.1775560594367	0.05340	0.2432128	-1.16148281130089	0.06564	0.3163698	0.00160912212136725	0.08694	0.719381	0.83141	0	0.723133	0.82719	0	0.608884	0.39905	0	0.567892	0.33627	0	.	.	5.75	-0.273	0.12276	0.102000	0.15108	1.281000	0.25351	-0.106000	0.15538	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.1496:0.4267:0.2112:0.2125	2.843	0.05195	851	0.35303	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2030.49	38	chr2	214781125	.	G	T	2030.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.329;DP=407;ExcessHet=0;FS=5.214;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-1.434;SOR=0.826	GT:AD:DP:GQ:PL	0/1:96,87:183:99:2041,0,2254	6	0	1	0
chr2	215011594	215011594	G	T	exonic	ABCA12	.	nonsynonymous SNV	ABCA12:NM_015657:exon9:c.C1223A:p.S408Y,ABCA12:NM_173076:exon17:c.C2177A:p.S726Y	Ichthyosis, congenital, autosomal recessive 4A, Autosomal recessive;Ichthyosis, congenital, autosomal recessive 4B (harlequin), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.623	0.169932061539	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs771847743	6.157e-06	6.156e-06	8.168e-06	4.125e-06	2.236e-05	2.9e-06	2.1e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0	5.396e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.41364	D	0.004	0.74150	D	1.0	0.90584	D	0.998	0.88582	D	0.004073	0.34148	N	0.261014	0.991785	0.41474	D	0.975	0.24501	L	-2.74	0.90735	D	-2.63	0.56466	D	0.737	0.78641	0.630	0.92287	D	0.743	0.91209	D	10	0.8314855	0.82310	D	0.169932	0.84762	D	0.623	0.85406	0.44	0.49484	0.932964551649	0.93228	0.8585757313114737	0.85820	0.833395876593	0.67722	0.606535851955	0.53826	T	0.682441	0.90689	D	0.156237	0.69851	D	0.0695123	0.74876	D	0.919265747070312	0.57789	D	0.814719	0.46890	T	0.26619288	0.49689	0.3119539	0.57199	0.26619288	0.49688	0.3119539	0.57198	-3.55	0.35088	T	0.4240165909947896	0.51231	0.581	0.68152	P	.;.	.;.	4.681525	0.74923	26.2	0.99372471630118642	0.61498	0.98373	0.82117	D	AEFI	0.638147	0.61667	D	0.561247509991425	0.70771	5.550476	0.559614284766424	0.72068	5.752048	0.884941782951476	0.25706	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.01	5.01	0.66477	6.206000	0.72085	11.832000	0.97554	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:0.0:1.0:0.0	15.598	0.76348	888	0.27761	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	359.46	18	chr2	215011594	.	G	T	359.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.139;DP=175;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.97;ReadPosRankSum=-0.247;SOR=0.551	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1169	6	0	1	0
chr2	215018025	215018025	G	T	exonic	ABCA12	.	nonsynonymous SNV	ABCA12:NM_015657:exon6:c.C811A:p.P271T,ABCA12:NM_173076:exon14:c.C1765A:p.P589T	Ichthyosis, congenital, autosomal recessive 4A, Autosomal recessive;Ichthyosis, congenital, autosomal recessive 4B (harlequin), Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	250556	not_provided|Autosomal_recessive_congenital_ichthyosis_4B|Autosomal_recessive_congenital_ichthyosis_4A|Congenital_ichthyosis_of_skin|not_specified	MedGen:C3661900|MONDO:MONDO:0009443,MedGen:C0598226,OMIM:242500,Orphanet:457|MONDO:MONDO:0011026,MedGen:C1832550,OMIM:601277,Orphanet:313|MedGen:C0020758|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.307	.	0.0075	0.00419329	0.0068	0.0019	0.0095	0	0.0017	0.0100	0.0121	0.0007	0.0070762	1094	154602	rs148979792	0.0093	0.0093	0.0096	0.0089	0.0116	0.0091	0.0091	0.0108	0.0107	0.0016	0.0116	0.0033	2.52e-05	0.0019	0.0052	0.0110	0.0085	0.0005	0.0069	0.0069	0.0073	0.0065	0.0127	0.0066	0.0064	0.0112	0.0107	0.0021	0	0.0127	0.0043	0	0.0013	0	0.0105	0.0132	0.0006	0.025	0.47320	D	0.004	0.74150	D	0.839	0.46454	P	0.512	0.47969	P	0.738733	0.09794	N	0.882153	0.568924	0.32277	D	1.955	0.52871	M	-2.59	0.89822	D	-2.2	0.49519	N	0.598	0.65501	-0.3044	0.74862	T	0.494	0.80830	T	10	0.006954968	0.00158	T	.	.	.	0.307	0.62838	.	.	0.780239366481	0.77821	0.5202309027907359	0.51946	0.24047698709	0.26590	0.445027291775	0.31265	T	0.289949	0.66273	T	-0.306198	0.08087	T	-0.201577	0.54496	T	0.0356153701561596	0.02913	T	0.782722	0.41876	T	0.12582459	0.29488	0.14220306	0.33838	0.1525399	0.34622	0.13563538	0.32468	-3.836	0.21343	T	0.17290695002865486	0.21877	0.161	0.35498	B	.;.	.;.	3.728732	0.53327	23.3	0.98934128284842093	0.48807	0.96176	0.67882	D	AEFBI	0.343512	0.43930	N	-0.0636573217432459	0.38995	2.292548	-0.0453801429324668	0.37692	2.210293	0.999944509891144	0.47345	0.51972	0.21558	0	0.522029	0.08744	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.92	5.05	0.67566	4.559000	0.60505	8.692000	0.78080	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.310000	0.24737	0.0746:0.0:0.9254:0.0	13.106	0.58661	877	0.30165	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.020202	0.005435	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	688.44	34	chr2	215018025	.	G	T	688.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.087;DP=264;ExcessHet=0;FS=0.815;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.74;ReadPosRankSum=2.7;SOR=0.818	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1120	6	0	1	0
chr2	215397209	215397209	T	C	exonic	FN1	.	nonsynonymous SNV	FN1:NM_001306129:exon23:c.A3532G:p.T1178A,FN1:NM_001306130:exon23:c.A3532G:p.T1178A,FN1:NM_001306131:exon23:c.A3532G:p.T1178A,FN1:NM_001306132:exon23:c.A3532G:p.T1178A,FN1:NM_001365517:exon23:c.A3532G:p.T1178A,FN1:NM_001365518:exon23:c.A3532G:p.T1178A,FN1:NM_001365519:exon23:c.A3532G:p.T1178A,FN1:NM_001365520:exon23:c.A3532G:p.T1178A,FN1:NM_001365521:exon23:c.A3532G:p.T1178A,FN1:NM_001365522:exon23:c.A3532G:p.T1178A,FN1:NM_001365523:exon23:c.A3532G:p.T1178A,FN1:NM_001365524:exon23:c.A3532G:p.T1178A,FN1:NM_002026:exon23:c.A3532G:p.T1178A,FN1:NM_212474:exon23:c.A3532G:p.T1178A,FN1:NM_212476:exon23:c.A3532G:p.T1178A,FN1:NM_212478:exon23:c.A3532G:p.T1178A,FN1:NM_212482:exon23:c.A3532G:p.T1178A	Glomerulopathy with fibronectin deposits 2, Autosomal dominant;Plasma fibronectin deficiency, Autosomal dominant	0	1516	6	0	0	6	0.00197498	.	.	.	1546300	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.116	0.0352946630425	.	0.00139776	0.0007	0	0	0	0	7.497e-05	0.0011	0.0048	0.0005951	92	154602	rs543350920	0.0003	0.0003	0.0002	0.0004	0.0047	0.0003	0.0003	0.0043	0.0041	8.969e-05	0	0.0008	0	0	0.0003	5.4e-06	0.0005	0.0047	0.0002	0.0002	0.0001	0.0002	0.0048	0.0001	9.697e-05	0.0033	0.0028	0	0	0	0.0003	0	0	0	0	0.0005	0.0048	0.01	0.56456	D	0.027	0.55341	D	0.031	0.67487	B	0.039	0.83170	B	0.000613	0.42945	N	0.159094	0.999998	0.58761	D	2.84	0.82582	M	0.35	0.58029	T	-2.48	0.54059	N	0.125	0.24385	-0.5641	0.66247	T	0.284	0.65567	T	10	0.009646863	0.00217	T	0.035295	0.56251	D	0.116	0.32463	0.46	0.52753	0.745431911984	0.74313	0.5865410777701819	0.58584	0.256833766048	0.28250	0.41134673357	0.26643	T	0.471222	0.80401	T	-0.409472	0.02004	T	-0.360277	0.38021	T	0.156628793538937	0.17619	T	0.815218	0.46991	T	0.21925972	0.44453	0.22592753	0.47554	0.26463044	0.49530	0.1895582	0.42308	-6.678	0.52462	T	0.6587025842751055	0.73186	0.096	0.15564	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.725076	0.53253	23.3	0.99078205288202637	0.51906	0.94287	0.60687	D	AEFBCIJ	0.779178	0.71145	D	0.0493520369690444	0.44112	2.691295	0.119035001542762	0.45524	2.813956	0.999999911621811	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.62	3.23	0.36150	3.709000	0.54582	2.920000	0.35558	0.609000	0.47794	1.000000	0.71638	0.999000	0.35428	0.988000	0.63387	0.0:0.139:0.0:0.861	10.399	0.43402	787	0.46738	.;.;.;.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	367.44	34	chr2	215397209	.	T	C	367.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.33;DP=236;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.83;ReadPosRankSum=0.008;SOR=0.606	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1129	6	0	1	0
chr2	217847726	217847726	T	G	exonic	TNS1	.	nonsynonymous SNV	TNS1:NM_001308022:exon16:c.A2416C:p.N806H,TNS1:NM_001308023:exon17:c.A2416C:p.N806H,TNS1:NM_022648:exon17:c.A2416C:p.N806H	.	398	1105	18	1	0	20	0.00896861	.	.	.	697315	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.104	0.0429944531494	0.0012	0.000599042	0.0018	0.0003	0.0012	0	0.0006	0.0020	0.0033	0.0038	0.0017141	265	154602	rs141901890	0.0022	0.0022	0.0021	0.0023	0.0070	0.0022	0.0021	0.0052	0.0047	0.0002	0.0010	0.0008	0	0.0010	0.0070	0.0023	0.0023	0.0042	0.0015	0.0015	0.0015	0.0015	0.0041	0.0013	0.0012	0.0027	0.0023	0.0003	0	0.0007	0.0014	0	0.0010	0	0.0024	0.0005	0.0041	0.217	0.19157	T	0.139	0.33780	T	0.162	0.28404	B	0.121	0.32300	B	0.986698	0.08058	N	0.994171	1	0.08975	N	1.1	0.28011	L	-2.76	0.90904	D	-0.33	0.14390	N	0.238	0.30687	-0.4985	0.68704	T	0.474	0.79784	T	10	0.0075338185	0.00171	T	0.042994	0.60755	D	0.104	0.29647	.	.	0.631036566339	0.62802	0.35266923823291957	0.35180	0.222514327128	0.24783	0.335076749325	0.15699	T	0.045347	0.27096	T	-0.437887	0.01331	T	-0.399437	0.33450	T	0.00503909717186177	0.00054	T	0.737426	0.35417	T	0.05296016	0.09952	0.05846371	0.10808	0.05296016	0.09952	0.05846371	0.10807	-2.723	0.07498	T	.	.	0.069	0.03093	B	.;.;.;.;.;.	.;.;.;.;.;.	2.406268	0.30922	18.58	0.8255103183594763	0.14251	0.75342	0.36884	D	AEFDBCI	0.334560	0.43328	N	-0.71279601441514	0.15661	0.791244	-0.666106537991906	0.17811	0.9486976	0.99997784324916	0.50053	0.653281	0.48532	0	0.59043	0.45803	0	0.602189	0.34648	0	0.669	0.65921	0	.	.	4.11	2.9	0.32809	1.378000	0.33935	3.369000	0.37918	0.665000	0.62972	0.859000	0.30595	0.997000	0.33255	0.580000	0.30894	0.0:0.2965:0.0:0.7035	6.640	0.22096	957	0.09725	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.000000	0.005435	0.005848	0.000000	0.000000	0.012195	0.007576	0.07143	961.46	38	chr2	217847726	.	T	G	961.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.102;DP=290;ExcessHet=0;FS=9.607;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=1.13;SOR=0.157	GT:AD:DP:GQ:PL	0/1:22,40:62:99:972,0,621	6	0	1	0
chr2	218164579	218164579	G	T	exonic	CXCR1	.	nonsynonymous SNV	CXCR1:NM_000634:exon2:c.C633A:p.F211L	.	412	1088	21	1	0	23	0.0104593	.	.	.	719608	not_provided|CXCR1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.450	.	7.7e-05	0.0165735	0.0086	0.0002	0.0003	0.0001	0	0.0003	0.0077	0.0617	0.0075225	1163	154602	rs142076386	0.0035	0.0035	0.0020	0.0050	0.0550	0.0034	0.0034	0.0537	0.0531	0.0002	4.472e-05	3.826e-05	0	3.744e-05	0.0036	8.093e-05	0.0040	0.0550	0.0019	0.0019	0.0010	0.0028	0.0569	0.0017	0.0016	0.0514	0.0492	7.215e-05	0	6.535e-05	0	0	0	0	7.349e-05	0.0009	0.0569	0.032	0.44694	D	0.153	0.32144	T	0.994	0.66517	D	0.975	0.73362	D	0.000000	0.84330	D	0.000000	0.538772	0.32036	D	1.875	0.49914	L	-1.03	0.76430	T	-5.65	0.86988	D	0.952	0.96072	-0.1507	0.78899	T	0.480	0.80124	T	10	0.0059427917	0.00133	T	.	.	.	0.450	0.75074	0.799	0.91874	0.824371596801	0.82270	0.5652445172485374	0.56451	0.407788582301	0.41625	0.663786649704	0.61950	T	0.340269	0.70931	T	-0.326529	0.06378	T	-0.199318	0.54712	T	0.123904139179399	0.14807	T	0.757724	0.38135	T	0.6581083	0.75798	0.57139146	0.75180	0.6581083	0.75799	0.57139146	0.75180	-4.812	0.34731	T	.	.	0.986	0.92581	P	.	.	2.021588	0.25690	16.85	0.96499743806918925	0.30037	0.38799	0.26070	N	AEFDBI	0.205204	0.33158	N	-0.519839084176775	0.21439	1.137772	-0.757956493004658	0.15527	0.8170388	0.00505545289077908	0.10811	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.56	-1.0	0.09675	0.493000	0.22160	2.183000	0.31145	-0.244000	0.07312	0.169000	0.23921	0.989000	0.31174	0.021000	0.11733	0.497:0.0:0.503:0.0	10.139	0.41902	928	0.17405	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007049	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.030303	0.07143	1594.44	154	chr2	218164579	.	G	T	1594.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.512;DP=508;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=-0.484;SOR=0.683	GT:AD:DP:GQ:PL	0/0:198,0:198:99:0,120,1800	6	0	1	0
chr2	218164649	218164649	T	-	exonic	CXCR1	.	frameshift deletion	CXCR1:NM_000634:exon2:c.563delA:p.Y188Lfs*54	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	40.4	88	chr2	218164648	.	AT	A	40.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=434;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.04;ReadPosRankSum=-0.37;SOR=0.368	GT:AD:DP:GQ:PL	0/0:198,0:198:99:0,120,1800	6	0	1	0
chr2	218164782	218164782	G	A	exonic	CXCR1	.	nonsynonymous SNV	CXCR1:NM_000634:exon2:c.C430T:p.R144C	.	394	1095	32	1	0	34	0.0152878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	.	0.0002	0.0071885	0.0033	9.61e-05	0.0003	0	0	0.0001	0.0055	0.0231	0.0029819	461	154602	rs111741549	0.0014	0.0014	0.0008	0.0020	0.0213	0.0014	0.0013	0.0205	0.0202	8.961e-05	0.0002	0	2.519e-05	0	0.0050	8.453e-05	0.0017	0.0213	0.0009	0.0009	0.0006	0.0012	0.0253	0.0008	0.0008	0.0216	0.0202	0.0002	0	0	0	0	0	0.0034	0.0001	0.0005	0.0253	0.0	0.91255	D	0.039	0.51112	D	0.571	0.38591	P	0.189	0.36295	B	0.000622	0.42799	D	0.195160	0.976278	0.39261	D	3.225	0.89467	M	0.95	0.43279	T	-4.32	0.76655	D	0.218	0.24385	-0.6961	0.60624	T	0.160	0.49413	T	10	0.005643517	0.00125	T	.	.	.	0.235	0.53788	.	.	0.733002149173	0.73062	0.38357733357133356	0.38272	0.116461663123	0.13138	0.333392649889	0.15446	T	0.412919	0.76693	T	-0.304049	0.08282	T	-0.191936	0.55407	T	0.13430649001899	0.15774	T	0.79842	0.44325	T	0.3759007	0.59018	0.39109933	0.63889	0.3759007	0.59018	0.39109933	0.63889	-10.154	0.74829	D	.	.	0.259	0.49402	B	.	.	3.625763	0.51336	23.1	0.99851729412726908	0.93102	0.39393	0.26203	N	AEFDGBI	0.299338	0.40842	N	0.188144503605216	0.50629	3.251149	0.175859659243105	0.48527	3.067516	0.996075153280669	0.34508	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.35	5.35	0.76297	2.189000	0.42253	2.346000	0.32284	0.676000	0.76740	0.209000	0.24412	0.052000	0.21854	0.885000	0.42453	0.0:0.0:0.837:0.163	12.880	0.57400	929	0.16858	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.07143	3645.44	88	chr2	218164782	.	G	A	3645.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.75;DP=504;ExcessHet=0;FS=3.501;MLEAC=1;MLEAF=0.071;MQ=59.88;MQRankSum=-1.363;QD=14.18;ReadPosRankSum=-1.764;SOR=0.928	GT:AD:DP:GQ:PL	0/1:124,133:257:99:3656,0,3005	6	0	1	0
chr2	218262786	218262786	C	T	exonic	GPBAR1	.	nonsynonymous SNV	GPBAR1:NM_001077191:exon2:c.C62T:p.S21F,GPBAR1:NM_001077194:exon2:c.C62T:p.S21F,GPBAR1:NM_001321950:exon2:c.C62T:p.S21F,GPBAR1:NM_170699:exon2:c.C62T:p.S21F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00810846527688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.85e-07	6.84e-07	1.363e-06	0	9e-07	0	0	.	.	0	0	0	0	0	0	9e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.37966	T	0.135	0.34124	T	0.009	0.15093	B	0.006	0.12133	B	0.008561	0.30776	N	0.207230	0.949051	0.37636	D	1.265	0.31966	L	1.43	0.32958	T	-0.67	0.19297	N	0.33	0.37093	-1.0774	0.07861	T	0.042	0.18243	T	10	0.14178291	0.26937	T	0.008108	0.21495	T	0.020	0.03691	0.276	0.22845	0.385417323374	0.38153	0.7673081177796917	0.76679	0.0460357094814	0.04998	0.48489806056	0.36732	T	0.063485	0.32189	T	-0.167101	0.25673	T	-0.477806	0.24680	T	0.374029771929662	0.27953	T	0.628837	0.24395	T	0.24659762	0.47630	0.12926577	0.31084	0.24659762	0.47630	0.12926577	0.31083	-4.946	0.36248	T	.	.	0.282	0.51532	B	.;.;.;.	.;.;.;.	2.971996	0.39618	21.0	0.94392909920747492	0.24776	0.86345	0.45607	D	AEFDBCI	0.265808	0.38285	N	-0.470869459106482	0.23038	1.234407	-0.299593045577214	0.28112	1.56488	0.999999999708477	0.74766	0.580535	0.33130	0	0.379588	0.06130	0	0.576033	0.28219	0	0.491896	0.07777	0	.	.	4.62	3.75	0.42236	3.679000	0.54368	3.996000	0.41031	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:0.9133:0.0:0.0867	11.748	0.51100	887	0.27948	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	160.25	33	chr2	218262786	.	C	T	160.25	.	AC=2;AF=0.143;AN=14;DP=209;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=26.71;SOR=1.329	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1315	6	1	0	0
chr2	218281940	218281940	C	T	exonic	TMBIM1	.	nonsynonymous SNV	TMBIM1:NM_001321428:exon2:c.G202A:p.G68S,TMBIM1:NM_001321432:exon2:c.G202A:p.G68S,TMBIM1:NM_022152:exon2:c.G202A:p.G68S,TMBIM1:NM_001321427:exon3:c.G202A:p.G68S,TMBIM1:NM_001321429:exon3:c.G202A:p.G68S,TMBIM1:NM_001321430:exon3:c.G202A:p.G68S,TMBIM1:NM_001321433:exon3:c.G202A:p.G68S,TMBIM1:NM_001321435:exon3:c.G202A:p.G68S,TMBIM1:NM_001321436:exon3:c.G202A:p.G68S	.	425	1075	22	0	0	22	0.0101289	0.9997	0.974	.	1667220	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.110	0.0272221098668	0.0027	0.00359425	0.0067	0.0014	0.0039	0.0009	0.0075	0.0096	0.0097	0.0051	0.0030142	466	154602	rs143066899	0.0033	0.0034	0.0034	0.0033	0.0060	0.0033	0.0032	0.0043	0.0037	0.0007	0.0016	7.82e-05	5.162e-05	0.0030	0.0060	0.0037	0.0027	0.0039	0.0029	0.0029	0.0031	0.0027	0.0045	0.0027	0.0026	0.0041	0.0039	0.0008	0	0.0025	0	0.0002	0.0034	0.0272	0.0045	0.0014	0.0037	0.167	0.91255	T	0.16	0.36101	T	0.947	0.53479	P	0.412	0.44859	B	0.280708	0.14951	N	0.705376	1	0.81001	D	1.7	0.43825	L	1.97	0.49642	T	-0.27	0.72353	N	0.341	0.38232	-1.0638	0.10831	T	0.076	0.30553	T	9	0.005088359	0.00110	T	0.027222	0.50054	D	0.110	0.31079	.	.	0.67004410122	0.66725	0.6658841597657029	0.66525	0.145403873013	0.16431	0.441463708878	0.30777	T	0.003875	0.32770	T	-0.277196	0.10968	T	-0.165822	0.57824	T	0.0159291498512667	0.00377	T	0.79822	0.50110	T	0.08824265	0.20578	0.107769124	0.25950	0.08824265	0.20577	0.107769124	0.25950	-4.85	0.35168	T	.	.	0.082	0.29860	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	5.966878	0.94209	34	0.99774211400294732	0.86174	0.93123	0.57387	D	AEFBI	0.618953	0.60457	D	0.151250537539999	0.48873	3.094103	0.15185216451695	0.47240	2.957257	0.999999971617966	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	4.75	4.75	0.59954	2.997000	0.49145	7.553000	0.60314	0.587000	0.30956	0.979000	0.35152	1.000000	0.68203	0.379000	0.26312	0.0:1.0:0.0:0.0	15.278	0.73456	883	0.28872	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010032	0.005747	0.008219	0.003205	0.000000	0.025862	0.025806	0.003846	0.07143	187.53	19	chr2	218281940	.	C	T	187.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.447;DP=194;ExcessHet=0;FS=1.829;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=0.204;SOR=0.668	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	6	0	1	0
chr2	218394133	218394133	T	C	exonic	SLC11A1	.	nonsynonymous SNV	SLC11A1:NM_000578:exon13:c.T1328C:p.V443A	.	414	1080	27	1	0	29	0.0132481	.	.	.	708030	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.172	.	0.0075	0.00698882	0.0085	0.0020	0.0058	0.0050	0.0049	0.0108	0.0099	0.0083	0.0085251	1318	154602	rs17215556	0.0094	0.0094	0.0093	0.0094	0.0106	0.0092	0.0092	0.0104	0.0104	0.0011	0.0058	0.0002	0.0032	0.0054	0.0090	0.0106	0.0076	0.0077	0.0071	0.0071	0.0076	0.0065	0.0110	0.0067	0.0066	0.0103	0.0101	0.0020	0	0.0088	0	0.0033	0.0037	0.0068	0.0110	0.0080	0.0068	0.121	0.27783	T	0.122	0.35710	T	0.008	0.14655	B	0.088	0.29688	B	0.003390	0.35013	N	0.198663	0.99986	0.50061	D	2.135	0.59519	M	-0.52	0.70717	T	-1.36	0.33798	N	0.658	0.66787	-0.7510	0.57883	T	0.196	0.55056	T	10	0.013764232	0.00291	T	.	.	.	0.172	0.43662	.	.	0.79161799632	0.78968	0.5413373954947179	0.54058	0.566308058926	0.52931	0.53330373764	0.43500	T	0.351936	0.71944	T	-0.397229	0.02414	T	-0.333974	0.41026	T	0.0189439310259744	0.00604	T	0.514149	0.16548	T	0.20398343	0.42493	0.18141866	0.41004	0.20398343	0.42493	0.18141866	0.41003	-6.288	0.48627	T	.	.	0.405	0.59854	A	.	.	3.573429	0.50344	22.9	0.98931554381899145	0.48750	0.91526	0.53715	D	AEFDGBHCI	0.792517	0.72079	D	-0.0848950177941772	0.38055	2.223034	0.0591517357268589	0.42515	2.572918	1.0	0.98316	0.616025	0.39624	0	0.574621	0.32753	0	0.607795	0.38427	0	0.604944	0.38103	0	.	.	4.86	4.86	0.62624	5.829000	0.69007	6.049000	0.53076	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.571000	0.30675	0.0:0.0:0.0:1.0	14.312	0.65975	936	0.14734	.	.	.	.	.	rs17215556	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.005051	0.001359	0.002924	0.000000	0.000000	0.015244	0.003788	0.07143	1856.44	33	chr2	218394133	.	T	C	1856.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.094;DP=329;ExcessHet=0;FS=0.626;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.051;SOR=0.788	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1371	6	0	1	0
chr2	218425738	218425738	C	T	exonic	VIL1	.	nonsynonymous SNV	VIL1:NM_007127:exon4:c.C274T:p.R92W	Cholestasis, progressive canalicular (1)	44	1475	3	0	0	3	0.00101592	.	.	.	3202229	VIL1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.351	0.0250417044686	.	0.00119808	0.0011	0	0.0002	0	0	3.009e-05	0	0.0080	0.000912	141	154602	rs201270409	0.0005	0.0005	0.0002	0.0008	0.0080	0.0005	0.0005	0.0075	0.0073	0	6.708e-05	0	2.519e-05	0	0.0009	4.137e-05	0.0003	0.0080	0.0003	0.0003	7.708e-05	0.0004	0.0075	0.0002	0.0002	0.0055	0.0049	2.406e-05	0	6.54e-05	0	0	0	0	1.47e-05	0	0.0075	0.011	0.58626	D	0.016	0.60972	D	0.895	0.49247	P	0.687	0.53665	P	0.726878	0.06346	N	1.167470	0.999998	0.58761	D	2.34	0.67151	M	0.46	0.56281	T	-2.26	0.55181	N	0.518	0.54845	-0.9227	0.45182	T	0.237	0.60451	T	10	0.01359567	0.00288	T	0.025042	0.48022	D	0.351	0.67234	0.549	0.66436	0.758333811532	0.75614	0.6455028910496621	0.64485	0.202961065636	0.22713	0.480121403933	0.36073	T	0.367701	0.73273	T	-0.378737	0.03173	T	-0.311538	0.43493	T	0.0732778432886534	0.09104	T	0.979802	0.93081	D	0.10392556	0.24565	0.11455216	0.27651	0.10392556	0.24565	0.11455216	0.27650	-9.892	0.75412	D	.	.	0.144	0.37820	B	.;.;.	.;.;.	4.225334	0.63937	24.6	0.99906784114164782	0.97726	0.15056	0.18722	N	AEFBI	0.610338	0.59920	D	0.0506516205339906	0.44173	2.696177	-0.0486055807391233	0.37550	2.200169	2.60534238559688E-4	0.06190	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.53	2.6	0.30173	-0.004000	0.12813	0.184000	0.15665	0.599000	0.40250	0.000000	0.06391	0.307000	0.24252	0.997000	0.79791	0.2906:0.3995:0.3099:0.0	6.876	0.23331	895	0.25842	Gelsolin-like domain;Gelsolin-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.002924	0.050000	0.000000	0.003049	0.000000	0.07143	287.45	52	chr2	218425738	.	C	T	287.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.15;DP=232;ExcessHet=0;FS=1.162;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.53;ReadPosRankSum=2.27;SOR=0.916	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1167	6	0	1	0
chr2	218436510	218436510	C	T	exonic	VIL1	.	nonsynonymous SNV	VIL1:NM_007127:exon16:c.C1855T:p.P619S	Cholestasis, progressive canalicular (1)	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.371	0.0102555276577	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1309181096	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.40573	T	0.027	0.55341	D	0.796	0.44790	P	0.248	0.38946	B	0.000001	0.84330	D	0.000000	1	0.81001	D	3.145	0.88303	M	0.93	0.44065	T	-6.73	0.92605	D	0.84	0.83576	-0.8231	0.53739	T	0.138	0.45583	T	10	0.81873965	0.81092	D	0.010256	0.26588	T	0.371	0.69016	0.725	0.85937	0.783190788101	0.78118	0.8547116754383107	0.85434	0.375697654196	0.39028	0.459071397781	0.33182	T	0.702612	0.91450	D	0.182417	0.72264	D	0.0397387	0.72910	D	0.893590807914734	0.54483	D	0.865613	0.57225	D	0.6567731	0.75726	0.38663673	0.63551	0.6567731	0.75727	0.38663673	0.63551	-8.747	0.66053	D	.	.	0.170	0.53269	B	.;.;.	.;.;.	2.848827	0.37605	20.5	0.99654268132029944	0.77505	0.97194	0.73244	D	AEFDBCI	0.954967	0.97245	D	0.485015506101858	0.66215	4.921357	0.533957328235138	0.70291	5.483426	0.999989541292646	0.51787	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.14	5.14	0.70008	5.013000	0.63783	4.065000	0.41618	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.985000	0.61073	0.0:1.0:0.0:0.0	18.387	0.90415	929	0.16858	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	758.45	33	chr2	218436510	.	C	T	758.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.514;DP=275;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.33;ReadPosRankSum=0.13;SOR=0.658	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1225	6	0	1	0
chr2	218690458	218690458	T	C	exonic	STK36	.	nonsynonymous SNV	STK36:NM_001243313:exon14:c.T1667C:p.V556A,STK36:NM_001369423:exon14:c.T1667C:p.V556A,STK36:NM_015690:exon14:c.T1667C:p.V556A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.0151472342882	.	0.000199681	0.0004	0	0	0	0	0	0	0.0026	0.0002846	44	154602	rs565881369	0.0002	0.0002	0.0001	0.0002	0.0024	0.0002	0.0002	0.0021	0.0020	0	0	0	0	0	0	4.767e-05	4.967e-05	0.0024	2.63e-05	2.626e-05	1.286e-05	4.035e-05	0.0006	8.15e-06	5.14e-06	0.0002	9.036e-05	0	0	0	0	0	0	0	1.471e-05	0	0.0006	0.755	0.03598	T	0.818	0.03933	T	0.001	0.07471	B	0.001	0.10090	B	0.000971	0.40836	D	0.000000	0.842909	0.28605	N	2.135	0.59519	M	-0.25	0.67011	T	-0.43	0.18459	N	0.174	0.22742	-0.9841	0.34045	T	0.138	0.45602	T	10	0.008930445	0.00202	T	0.015147	0.35714	T	0.278	0.59497	0.308	0.27967	0.686422888518	0.68374	0.17327826884215594	0.17247	0.24329210555	0.26834	0.497947275639	0.38542	T	0.116175	0.43533	T	-0.224372	0.17401	T	-0.100619	0.63350	T	0.0427954551005298	0.04199	T	0.669833	0.27843	T	0.035314664	0.04132	0.055995673	0.09925	0.035314664	0.04132	0.055995673	0.09924	-2.702	0.07337	T	.	.	0.166	0.39697	B	.;.;.	.;.;.	2.581614	0.33471	19.35	0.53189752322586625	0.04891	0.75040	0.36725	D	AEFBI	0.068644	0.13552	N	-0.368729391521783	0.26589	1.452302	-0.192960075190217	0.31794	1.802681	0.895917805589442	0.25965	0.706298	0.61202	0	0.601575	0.49859	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.14	5.14	0.70008	1.523000	0.35538	6.120000	0.53774	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.917000	0.45243	0.0:0.1021:0.0:0.8979	6.964	0.23793	812	0.42537	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	865.53	34	chr2	218690458	.	T	C	865.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.298;DP=245;ExcessHet=0;FS=10.732;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=0.813;SOR=0.248	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1257	6	0	1	0
chr2	218809577	218809577	G	A	exonic	CYP27A1	.	nonsynonymous SNV	CYP27A1:NM_000784:exon2:c.G256A:p.V86M	Cerebrotendinous xanthomatosis, Autosomal recessive	0	1505	16	1	0	18	0.00594452	0.0086	0.204	YES	489519	Cardiovascular_phenotype|not_specified|Cholestanol_storage_disease	MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0008948,MedGen:C0238052,OMIM:213700,Orphanet:909	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.117	.	7.7e-05	0.00259585	0.0019	0	0.0002	0	0	0.0001	0	0.0133	0.0016817	260	154602	rs200604732	0.0009	0.0009	0.0005	0.0013	0.0135	0.0009	0.0008	0.0129	0.0126	2.99e-05	0	0	0	0	0.0042	8.009e-05	0.0007	0.0135	0.0005	0.0005	0.0003	0.0008	0.0133	0.0004	0.0004	0.0107	0.0097	7.268e-05	0	0	0	0	0	0.0034	0.0001	0.0005	0.0133	0.078	0.33923	T	0.102	0.38450	T	0.205	0.29827	B	0.196	0.36635	B	0.838521	0.06985	N	1.067230	0.999742	0.48716	D	1.495	0.37439	L	-0.37	0.68892	T	-0.79	0.21860	N	0.112	0.09914	-0.9229	0.45155	T	0.223	0.58678	T	9	0.0077741146	0.00177	T	.	.	.	0.117	0.32689	.	.	0.63602097216	0.63303	0.4362374113121281	0.43540	0.291509951523	0.31557	0.342153012753	0.16760	T	0.180344	0.53164	T	-0.489289	0.00656	T	-0.46393	0.26172	T	0.0210194873839611	0.00803	T	0.691131	0.30052	T	0.0681832	0.14832	0.07798235	0.17425	0.06506907	0.13870	0.07609204	0.16817	-2.996	0.10138	T	.	.	0.089	0.11941	B	.	.	1.801356	0.22893	15.80	0.98378260367567549	0.40822	0.53547	0.29398	D	AEFBI	0.606734	0.59696	D	-0.616661553390314	0.18443	0.9575853	-0.617367905274374	0.19047	1.020224	0.0123365008322595	0.12312	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.755437	0.99637	0	.	.	5.67	-2.95	0.05229	0.231000	0.17651	-0.244000	0.10566	-0.135000	0.12811	0.989000	0.36753	0.005000	0.19230	0.922000	0.45779	0.5223:0.1005:0.3772:0.0	8.749	0.33763	875	0.30485	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.007576	0.07143	567.63	55	chr2	218809577	.	G	A	567.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.047;DP=250;ExcessHet=0;FS=2.426;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-0.085;SOR=1.167	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1261	6	0	1	0
chr2	218882255	218882255	C	T	exonic	WNT10A	.	nonsynonymous SNV	WNT10A:NM_025216:exon2:c.C208T:p.R70W	Odontoonychodermal dysplasia, Autosomal recessive;Schopf-Schulz-Passarge syndrome, Autosomal recessive;Tooth agenesis, selective, 4, Autosomal recessive, Autosomal dominant	0	1504	17	1	0	19	0.00627684	.	.	.	284751	WNT10A-related_disorder|Odonto-onycho-dermal_dysplasia|Tooth_agenesis,_selective,_4|SchC6pf-Schulz-Passarge_syndrome|not_provided	.|MONDO:MONDO:0009773,MedGen:C0796093,OMIM:257980,Orphanet:2721|MONDO:MONDO:0007881,MedGen:C1835492,OMIM:150400,Orphanet:99798|MONDO:MONDO:0009145,MedGen:C1857069,OMIM:224750,Orphanet:50944|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.299	.	0.0014	0.00279553	0.0020	0.0003	0.0017	0	0.0012	0.0018	0.0011	0.0055	0.0019146	296	154602	rs146460077	0.0014	0.0014	0.0012	0.0015	0.0060	0.0013	0.0013	0.0056	0.0054	0.0001	0.0011	0	2.519e-05	0.0014	0.0042	0.0011	0.0015	0.0060	0.0011	0.0011	0.0011	0.0011	0.0081	0.0010	0.0009	0.0061	0.0054	0.0002	0	0.0006	0	0	0.0008	0.0034	0.0014	0.0024	0.0081	0.002	0.72154	D	0.004	0.74150	D	0.999	0.77913	D	0.953	0.69275	D	0.000023	0.55875	D	0.068078	0.999973	0.53665	D	3.435	0.92070	M	-1.08	0.77078	T	-4.05	0.74504	D	0.913	0.91505	0.320	0.87875	D	0.637	0.87313	D	10	0.037638843	0.02130	T	.	.	.	0.707	0.89514	.	.	0.898296813337	0.89728	0.8702632220315178	0.86992	0.419777840034	0.42519	0.74913829565	0.74320	T	0.81634	0.95462	D	-0.144364	0.29199	T	0.0220503	0.71763	D	0.0671734759478568	0.08248	T	0.979302	0.92791	D	0.7039727	0.78274	0.68975693	0.81747	0.7694865	0.82018	0.7239651	0.83698	-9.19	0.68912	D	0.8335943025557462	0.90384	0.286	0.51832	B	.	.	4.460144	0.69407	25.4	0.99765108438073646	0.85417	0.83216	0.42352	D	AEFDGBCI	0.699248	0.65665	D	0.146017693718751	0.48623	3.072358	0.00651769649618139	0.40018	2.381575	0.999990522677494	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.82	0.679	0.17141	0.497000	0.22222	0.901000	0.22550	-0.180000	0.10397	0.995000	0.38783	0.999000	0.35428	0.990000	0.65344	0.5329:0.4671:0.0:0.0	13.623	0.61617	801	0.44448	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.008152	0.002924	0.000000	0.000000	0.003049	0.003788	0.07143	965.45	33	chr2	218882255	.	C	T	965.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.105;DP=257;ExcessHet=0;FS=0.87;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=1.18;SOR=0.703	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1272	6	0	1	0
chr2	219060433	219060433	A	G	exonic	IHH	.	nonsynonymous SNV	IHH:NM_002181:exon1:c.T35C:p.F12S	Acrocapitofemoral dysplasia, Autosomal recessive;Brachydactyly, type A1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.571	0.984802201408	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.332	0.18449	T	0.099	0.25639	B	0.015	0.17295	B	0.709952	0.10022	N	0.867558	0.999998	0.08975	N	0.695	0.17993	N	-6.66	0.99758	D	-0.25	0.11008	N	0.185	0.20129	1.185	0.99964	D	0.939	0.97978	D	10	0.28311172	0.45891	T	0.984802	0.99928	D	0.571	0.82573	0.501	0.59304	0.976948334777	0.97670	0.48552501779699636	0.48472	1.98321487319	0.93659	0.873672187328	0.93089	D	0.410784	0.76542	T	0.135373	0.67882	D	-0.043322	0.67477	D	0.141460977633216	0.16401	T	0.377862	0.09067	T	0.17007904	0.37562	0.16314375	0.37861	0.17007904	0.37562	0.16314375	0.37860	-2.494	0.05740	T	0.09231128193962408	0.05953	0.108	0.20313	B	.	.	2.561314	0.33175	19.26	0.96536067373039403	0.30168	0.24683	0.22469	N	AEFDBHCI	0.067869	0.13362	N	-0.470026584018405	0.23067	1.236108	-0.351462632444028	0.26463	1.461906	0.998820972343296	0.37755	0.59774	0.34471	0	0.59043	0.45803	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.78	3.78	0.42629	-0.040000	0.12056	7.060000	0.57403	0.644000	0.52426	0.015000	0.19116	1.000000	0.68203	0.835000	0.39381	0.7861:0.2139:0.0:0.0	7.712	0.27851	475	0.77788	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	49.44	27	chr2	219060433	.	A	G	49.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.48;ReadPosRankSum=0;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1177:.	6	0	1	0
chr2	219217782	219217782	C	T	exonic	ABCB6	.	nonsynonymous SNV	ABCB6:NM_005689:exon2:c.G575A:p.R192Q	Dyschromatosis universalis hereditaria 3, Autosomal dominant;Microphthalmia, isolated, with coloboma 7, Autosomal dominant;Pseudohyperkalemia, familial, 2, due to red cell leak, Autosomal dominant	0	1506	16	0	0	16	0.00528402	.	.	.	79365	Acute_intermittent_porphyria|Microphthalmia,_isolated,_with_coloboma_7|Protoporphyria,_erythropoietic,_1|not_provided|Variegate_porphyria|ABCB6-related_disorder	MONDO:MONDO:0008294,MedGen:C0162565,OMIM:176000,Orphanet:79276|MONDO:MONDO:0013783,MedGen:C3281027,OMIM:614497,Orphanet:98938|MONDO:MONDO:0008319,MedGen:C4692546,OMIM:177000,Orphanet:79278|MedGen:C3661900|MONDO:MONDO:0008297,MedGen:C0162532,OMIM:176200,Orphanet:79473|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.139	0.205414109906	0.0030	0.000998403	0.0034	0.0005	0.0040	0	0.0015	0.0051	0.0055	0.0007	0.0034152	528	154602	rs150221689	0.0038	0.0038	0.0038	0.0037	0.0094	0.0037	0.0036	0.0074	0.0067	0.0005	0.0042	0.0076	2.519e-05	0.0022	0.0094	0.0041	0.0042	0.0009	0.0030	0.0030	0.0033	0.0027	0.0045	0.0028	0.0027	0.0041	0.0040	0.0008	0.0077	0.0032	0.0063	0	0.0021	0.0068	0.0045	0.0033	0.0012	0.006	0.61437	D	0.017	0.60337	D	0.985	0.61118	D	0.696	0.54017	P	0.000001	0.62929	D	0.057394	1	0.81001	D	1.815	0.47718	L	-2.49	0.89145	D	-3.05	0.62976	D	0.775	0.77226	0.666	0.92742	D	0.773	0.92290	D	10	0.027407736	0.00887	T	0.205414	0.86984	D	0.722	0.90191	.	.	0.96779085308	0.96744	0.8460702411443091	0.84568	0.693723178477	0.60723	0.564349293709	0.47882	T	0.854923	0.96731	D	-0.0660143	0.41962	T	0.134733	0.79202	D	0.0409911184360875	0.03871	T	0.882412	0.60266	D	0.4106571	0.61463	0.37113625	0.62349	0.4414261	0.63495	0.4090872	0.65207	-9.639	0.71721	D	.	.	0.169	0.37140	B	.	.	4.613267	0.73176	25.9	0.99955817132644809	0.99975	0.99090	0.91078	D	ALL	0.879204	0.80500	D	0.742626518545521	0.82422	7.759003	0.746445318511869	0.85890	8.717776	1.0	0.98316	0.730579	0.87903	0	0.52208	0.09955	0	0.685571	0.62057	0	0.648885	0.59868	0	.	.	5.67	5.67	0.87673	5.420000	0.66180	4.823000	0.45134	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	20.117	0.97940	546	0.72524	Mitochondrial ABC-transporter, N-terminal five TM domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.010870	0.005848	0.000000	0.000000	0.009146	0.003788	0.07143	901.44	36	chr2	219217782	.	C	T	901.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.198;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.559;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	6	0	1	0
chr2	219222695	219222695	G	A	exonic	ATG9A	.	nonsynonymous SNV	ATG9A:NM_024085:exon10:c.C1798T:p.P600S,ATG9A:NM_001077198:exon11:c.C1798T:p.P600S	.	426	1093	3	0	0	3	0.00137049	.	.	.	2427903	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.00430046455314	0.0002	.	0.0001	0.0001	0	0	0	0.0002	0	0.0002	0.00011	17	154602	rs373678234	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0002	0.0006	0.0004	2.987e-05	2.236e-05	0	0	0	0.0012	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	8.055e-05	0.0001	6.506e-05	5.319e-05	6.804e-05	5.087e-05	9.622e-05	0	6.536e-05	0	0	0	0.0068	0.0001	0	0	0.338	0.22224	T	0.268	0.24054	T	0.002	0.09854	B	0.001	0.04355	B	0.001019	0.40652	N	0.287375	0.879496	0.35721	D	0.55	0.14455	N	2.0	0.29602	T	-0.25	0.15782	N	0.338	0.38129	-1.0579	0.12286	T	0.051	0.21728	T	10	0.11948803	0.22612	T	0.004	0.10435	T	0.053	0.14996	.	.	0.23798241625	0.23396	0.5471954558450646	0.54645	0.225646240428	0.25111	0.613658189774	0.54833	T	0.026268	0.19473	T	-0.349276	0.04773	T	-0.447339	0.27990	T	0.0300669676167732	0.01999	T	0.855714	0.55818	D	0.06736069	0.14579	0.06475671	0.13026	0.06736069	0.14578	0.06475671	0.13026	-3.768	0.20327	T	.	.	0.085	0.18950	B	.;.;.;.;.	.;.;.;.;.	2.915510	0.38689	20.8	0.98198451462019787	0.39097	0.96435	0.69125	D	AEFDBI	0.533496	0.55292	D	-0.0939045213982881	0.37659	2.194212	0.120936101833533	0.45622	2.822054	0.999994717900438	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.18	5.18	0.71140	5.310000	0.65568	9.965000	0.82823	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.1465:0.8535:0.0	14.486	0.67199	546	0.72524	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	2562.44	82	chr2	219222695	.	G	A	2562.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.7;DP=427;ExcessHet=0;FS=0.528;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-0.416;SOR=0.651	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,978	6	0	1	0
chr2	219231956	219231956	A	C	exonic	ANKZF1	.	nonsynonymous SNV	ANKZF1:NM_001042410:exon3:c.A177C:p.R59S,ANKZF1:NM_018089:exon3:c.A177C:p.R59S	.	416	1079	25	2	0	29	0.0132602	.	.	.	697336	not_provided|ANKZF1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.081	.	0.0060	0.00778754	0.0089	0.0012	0.0037	0.0001	0.0194	0.0080	0.0122	0.0211	0.0085316	1319	154602	rs13007650	0.0088	0.0088	0.0083	0.0093	0.0220	0.0087	0.0086	0.0211	0.0208	0.0012	0.0045	0.0032	7.557e-05	0.0160	0.0090	0.0083	0.0081	0.0220	0.0068	0.0068	0.0065	0.0072	0.0214	0.0065	0.0064	0.0180	0.0168	0.0015	0	0.0031	0.0032	0.0002	0.0172	0.0068	0.0092	0.0043	0.0214	0.746	0.38633	T	0.731	0.30631	T	0.003	0.11197	B	0.004	0.10090	B	0.271230	0.15123	N	0.699077	0.999995	0.31419	N	1.765	0.45800	L	1.75	0.26152	T	0.59	0.27463	N	0.16	0.16725	-1.0159	0.25045	T	0.032	0.13679	T	10	0.0038906932	0.00074	T	.	.	.	0.081	0.23632	0.291	0.25241	0.579527763308	0.57622	0.22850347717243094	0.22765	0.127213946032	0.14337	0.334729135036	0.15648	T	0.002178	0.12713	T	-0.655606	0.00067	T	-0.697589	0.05958	T	0.00644846666458732	0.00072	T	0.724828	0.35940	T	0.084070094	0.19442	0.05383886	0.09147	0.084070094	0.19442	0.05383886	0.09146	-3.037	0.10585	T	.	.	0.186	0.50536	B	.;.;.;.	.;.;.;.	1.900432	0.24136	16.28	0.92565790712357521	0.22018	0.66865	0.33228	D	AEFDBI	0.111853	0.22131	N	-0.438466859247574	0.24132	1.300918	-0.301788123306998	0.28042	1.560396	0.999954060419991	0.48110	0.732398	0.92422	0	0.662677	0.63036	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.12	3.91	0.44383	0.657000	0.24647	2.695000	0.34117	0.684000	0.82519	0.851000	0.30461	1.000000	0.68203	0.955000	0.50612	0.8146:0.1854:0.0:0.0	9.009	0.35291	550	0.72197	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.002717	0.000000	0.000000	0.000000	0.012195	0.003788	0.07143	860.49	33	chr2	219231956	.	A	C	860.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.449;DP=272;ExcessHet=0;FS=2.786;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=-0.883;SOR=1.016	GT:AD:DP:GQ:PL	0/1:55,38:93:99:871,0,1370	6	0	1	0
chr2	219233338	219233338	C	T	exonic	ANKZF1	.	nonsynonymous SNV	ANKZF1:NM_001282792:exon4:c.C94T:p.R32W,ANKZF1:NM_001042410:exon7:c.C724T:p.R242W,ANKZF1:NM_018089:exon7:c.C724T:p.R242W	.	415	1106	1	0	0	1	0.000451875	.	.	.	1510544	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.275	0.0547239021258	0.0002	.	8.286e-05	0	0.0009	0	0	0	0	0	6.47e-05	10	154602	rs374716315	3.625e-05	3.625e-05	2.722e-05	4.538e-05	0.0008	2.828e-05	2.565e-05	0.0006	0.0005	2.987e-05	0.0008	0	0	0	0	8.993e-06	0	5.797e-05	9.197e-05	9.193e-05	8.991e-05	9.412e-05	0.0007	5.526e-05	4.364e-05	0.0004	0.0003	4.823e-05	0	0.0007	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.001	0.92824	D	0.399	0.34817	B	0.045	0.24526	B	0.000001	0.84330	D	0.055266	0.999977	0.53665	D	3.07	0.87108	M	1.54	0.30133	T	-6.16	0.90215	D	0.673	0.68082	-0.8891	0.49012	T	0.169	0.50858	T	10	0.25171202	0.42514	T	0.054724	0.65965	D	0.275	0.59130	.	.	0.749654588312	0.74739	0.6157288128572327	0.61504	0.144358480749	0.16299	0.493429660797	0.37915	T	0.188352	0.54224	T	-0.186366	0.22792	T	-0.0968267	0.63643	T	0.318895770364827	0.25777	T	0.935006	0.75597	D	0.56745875	0.70920	0.48378727	0.70115	0.56745875	0.70922	0.48378727	0.70116	-13.196	0.90153	D	.	.	0.176	0.42520	B	.;.;.	.;.;.	4.219185	0.63804	24.6	0.99851211610081825	0.93013	0.94450	0.61205	D	AEFDBI	0.662337	0.63224	D	-0.038659433584032	0.40110	2.376513	-0.0459460504369703	0.37666	2.208494	0.999803359127465	0.43304	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.14	2.34	0.28071	1.072000	0.30290	1.906000	0.29614	-0.229000	0.07765	1.000000	0.71638	1.000000	0.68203	0.517000	0.29406	0.5006:0.4279:0.0:0.0715	8.493	0.32275	550	0.72197	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1575.27	36	chr2	219233338	.	C	T	1575.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.919;DP=300;ExcessHet=0;FS=2.283;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.705;SOR=0.489	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1310	5	0	1	1
chr2	219246069	219246069	C	T	exonic	STK16	.	stopgain	STK16:NM_001330214:exon1:c.C70T:p.Q24X,STK16:NM_001008910:exon2:c.C70T:p.Q24X,STK16:NM_001330213:exon2:c.C70T:p.Q24X,STK16:NM_001330215:exon2:c.C70T:p.Q24X	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000004	0.62929	D	0.108139	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.394	0.46555	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549544	0.95746	D	0.551606	0.95683	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Dominant;.	.;.;.;High;.	9.223452	0.98638	40	0.9974014661708327	0.83409	0.96096	0.67515	D	AEFDGBCI	0.108738	0.21622	N	1.07625584245915	0.97669	16.53912	0.969571596852084	0.97947	17.090	0.999999999999396	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.685571	0.62057	0	0.621717	0.48901	0	.	.	6.17	6.17	0.99707	5.279000	0.65406	7.700000	0.66237	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.879	0.99870	520	0.74355	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	625.44	33	chr2	219246069	.	C	T	625.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.559;DP=250;ExcessHet=0;FS=0.886;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=0.959;SOR=0.818	GT:AD:DP:GQ:PL	0/1:43,30:73:99:636,0,1061	6	0	1	0
chr2	219247684	219247684	C	T	exonic	STK16	.	nonsynonymous SNV	STK16:NM_001330215:exon4:c.C230T:p.T77I,STK16:NM_001008910:exon6:c.C584T:p.T195I,STK16:NM_001330213:exon6:c.C584T:p.T195I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.843	0.290918253154	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1386510163	2.057e-06	2.052e-06	1.364e-06	2.759e-06	1.162e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.803e-06	0	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.005	0.76473	D	1.0	0.90584	D	0.968	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.79	0.95329	H	-1.05	0.76690	T	-4.28	0.78135	D	0.95	0.95841	0.776	0.94118	D	0.761	0.91855	D	10	0.949894	0.94323	D	0.290918	0.90560	D	0.843	0.95101	0.804	0.92230	0.982719490344	0.98253	0.762211774658614	0.76169	1.10741529894	0.77938	0.787778377533	0.80104	T	0.174378	0.52358	T	0.414237	0.90714	D	0.357247	0.90598	D	0.991418838500977	0.81707	D	0.942806	0.91674	D	0.9106924	0.92359	0.8237167	0.89777	0.9106924	0.92360	0.8237167	0.89778	-12.49	0.87155	D	.	.	0.999	0.98268	P	.;.;.;.	.;.;.;.	5.241400	0.87993	29.4	0.99902691144769962	0.97426	0.97440	0.74764	D	AEFDBHCI	0.936641	0.93327	D	1.03057299763663	0.96609	14.90942	0.939246997609903	0.97066	15.54121	1.0	0.98316	0.706548	0.73137	0	0.672317	0.65289	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.28	5.28	0.74118	7.420000	0.79394	7.710000	0.66754	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.105	0.93276	512	0.75040	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1231.46	32	chr2	219247684	.	C	T	1231.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.881;DP=263;ExcessHet=0;FS=5.658;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=1.4;SOR=0.318	GT:AD:DP:GQ:PL	0/1:38,45:83:99:1242,0,1044	6	0	1	0
chr2	219300042	219300042	C	T	exonic	PTPRN	.	nonsynonymous SNV	PTPRN:NM_001199763:exon9:c.G1379A:p.G460E,PTPRN:NM_001199764:exon9:c.G1109A:p.G370E,PTPRN:NM_002846:exon9:c.G1379A:p.G460E	.	423	1089	10	0	0	10	0.00457038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	.	0.00259585	0.0016	9.623e-05	0.0005	0	0	0.0003	0.0077	0.01	0.0013842	214	154602	rs200184183	0.0007	0.0007	0.0004	0.0010	0.0094	0.0007	0.0007	0.0089	0.0087	2.987e-05	0.0001	0.0012	0	0	0.0010	0.0001	0.0008	0.0094	0.0005	0.0005	0.0003	0.0007	0.0099	0.0004	0.0004	0.0077	0.0069	0	0	0	0.0012	0.0002	0	0.0170	0.0002	0	0.0099	0.044	0.41096	D	0.84	0.13792	T	0.0	0.02946	B	0.001	0.04355	B	0.154834	0.17849	N	0.541618	1	0.08975	N	1.04	0.26193	L	4.03	0.03208	T	-0.68	0.22078	N	0.18	0.19459	-0.9070	0.47215	T	0.005	0.01797	T	10	0.0048052967	0.00102	T	.	.	.	0.033	0.08068	.	.	0.31411915649	0.31020	0.2274703603959591	0.22662	0.126750937996	0.14284	0.318410158157	0.13181	T	0.160316	0.50411	T	-0.665992	0.00058	T	-0.721751	0.04711	T	0.00995866925869084	0.00133	T	0.865113	0.56350	D	0.048470564	0.08453	0.05674674	0.10194	0.048470564	0.08452	0.05674674	0.10193	-3.31	0.25481	T	.	.	0.132	0.28435	B	.;.;.	.;.;.	1.359630	0.17685	13.31	0.63562356176249368	0.07257	0.02592	0.07153	N	AEFDBI	0.091323	0.18500	N	-0.969139738591043	0.09268	0.4379261	-0.896627122801785	0.12174	0.6246631	0.99975300935498	0.42595	0.646311	0.45356	0	0.627178	0.54094	0	0.645312	0.48771	0	0.530356	0.10902	0	.	.	4.36	2.37	0.28337	0.262000	0.18229	1.094000	0.24007	0.599000	0.40250	0.001000	0.13787	0.216000	0.23679	0.162000	0.20715	0.0:0.4744:0.2198:0.3058	3.150	0.06097	142	0.94345	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.07143	1472.45	36	chr2	219300042	.	C	T	1472.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.75;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=-0.428;SOR=0.651	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1279	6	0	1	0
chr2	219477404	219477404	C	T	exonic	SPEG	.	nonsynonymous SNV	SPEG:NM_005876:exon20:c.C4688T:p.A1563V	Centronuclear myopathy 5, Autosomal recessive	420	1097	5	0	0	5	0.00227376	.	.	.	733188	SPEG-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.314	0.0727206379598	0.0007	0.000798722	0.0024	0	0.0014	0	0.0018	0.0023	0.0063	0.0051	0.0011837	183	154602	rs150628707	0.0012	0.0012	0.0011	0.0013	0.0047	0.0012	0.0012	0.0043	0.0042	0.0002	0.0005	0	0	0.0014	0.0019	0.0011	0.0009	0.0047	0.0008	0.0008	0.0007	0.0009	0.0046	0.0007	0.0007	0.0031	0.0026	0.0002	0	0.0001	0	0	0.0009	0.0034	0.0011	0.0019	0.0046	0.026	0.46910	D	0.001	0.83351	D	0.999	0.77913	D	0.97	0.72226	D	0.235804	0.15820	N	0.461483	0.999986	0.54805	D	1.31	0.32734	L	-0.24	0.66834	T	-3.16	0.64246	D	0.61	0.62696	-0.3259	0.74254	T	0.375	0.73302	T	10	0.020133793	0.00459	T	0.072721	0.71605	D	0.314	0.63588	.	.	0.618067351671	0.61497	0.713056025828732	0.71247	1.57768350734	0.88340	0.675377070904	0.63606	T	0.37974	0.74243	T	-0.316552	0.07184	T	-0.22694	0.52067	T	0.0802258197684668	0.10016	T	0.944706	0.79020	D	0.2191015	0.44433	0.21015316	0.45390	0.2191015	0.44433	0.21015316	0.45389	-7.979	0.60927	D	.	.	0.308	0.53648	B	.	.	4.685689	0.75034	26.3	0.99883579525226074	0.95892	0.95357	0.64405	D	AEFGBHCI	0.606949	0.59710	D	0.54667028713492	0.69878	5.420215	0.567293301489994	0.72608	5.83691	0.999999999999947	0.74766	0.560101	0.30754	0	0.59043	0.45803	0	0.26897	0.05253	2	0.542086	0.14980	0	.	.	5.23	5.23	0.72570	4.919000	0.63082	5.979000	0.52135	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:1.0:0.0:0.0	18.841	0.92151	108	0.95573	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001512	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1263.49	37	chr2	219477404	.	C	T	1263.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.336;DP=297;ExcessHet=0;FS=2.992;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=-1.322;SOR=0.412	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	6	0	1	0
chr2	219549780	219549780	C	A	exonic	TMEM198	.	nonsynonymous SNV	TMEM198:NM_001005209:exon5:c.C1009A:p.P337T,TMEM198:NM_001303098:exon6:c.C1009A:p.P337T	.	418	1090	14	0	0	14	0.00638104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.00323705259557	.	0.000399361	0.0005	0	0.0002	0	0	0.0003	0	0.0027	0.0004592	71	154602	rs199925077	0.0003	0.0003	0.0002	0.0004	0.0028	0.0003	0.0003	0.0025	0.0024	0	0.0002	0.0042	0	0	0.0017	6.745e-05	0.0005	0.0028	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0001	0.0011	0.0009	7.216e-05	0	0.0001	0.0032	0.0002	0	0	7.35e-05	0.0005	0.0021	0.382	0.11120	T	0.718	0.05380	T	0.075	0.24198	B	0.01	0.14941	B	0.005510	0.32736	N	0.242908	0.910907	0.36408	D	-0.695	0.01866	N	.	.	.	1.04	0.01332	N	0.28	0.31702	-1.0200	0.23715	T	0.068	0.28013	T	9	0.006179601	0.00139	T	0.003237	0.07147	T	0.096	0.27654	.	.	0.112648838833	0.10856	0.43742012283597487	0.43659	0.703745904295	0.61285	0.44789993763	0.31658	T	0.004358	0.03768	T	-0.352476	0.04573	T	-0.284321	0.46359	T	0.0334120612226693	0.02539	T	0.707729	0.31835	T	0.13540974	0.31428	0.089428194	0.20911	0.13540974	0.31428	0.089428194	0.20911	-3.745	0.19985	T	.	.	0.066	0.02548	B	.;.	.;.	2.484727	0.32044	18.92	0.82584379440381361	0.14268	0.94715	0.62081	D	AEFBI	0.527307	0.54930	D	-0.276494831925197	0.30058	1.672555	-0.0189035211941782	0.38861	2.295715	0.999998855214042	0.74766	0.634777	0.41761	0	0.627178	0.54094	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	5.1	5.1	0.68917	4.775000	0.62040	5.946000	0.51564	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.700	0.91578	114	0.95383	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.000000	0.07143	480.44	55	chr2	219549780	.	C	A	480.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.62;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.74;ReadPosRankSum=-1.443;SOR=0.634	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1317	6	0	1	0
chr2	219557366	219557366	C	T	exonic	OBSL1	.	nonsynonymous SNV	OBSL1:NM_001173431:exon12:c.G4043A:p.R1348H,OBSL1:NM_015311:exon12:c.G4043A:p.R1348H	3-M syndrome 2	0	1520	2	0	0	2	0.000657462	.	.	.	1989393	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.207	0.0121104971851	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866958379	2.427e-05	4.241e-05	2.446e-05	2.408e-05	2.976e-05	1.731e-05	1.523e-05	1.838e-05	1.582e-05	0	2.976e-05	0	2.814e-05	0	0	2.651e-05	3.551e-05	1.363e-05	6.571e-06	6.566e-06	1.285e-05	0	6.543e-05	0	0	.	.	0	0	6.543e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.09	0.40267	T	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	1.1	0.28011	L	3.55	0.04746	T	-1.22	0.30964	N	0.487	0.52119	-0.9783	0.35390	T	0.024	0.10239	T	9	0.27477324	0.45032	T	0.01211	0.30386	T	0.207	0.49555	0.51	0.60693	0.236278675362	0.23226	0.37548883385310267	0.37462	0.681807175389	0.60070	0.398260653019	0.24826	T	0.023371	0.17850	T	-0.118152	0.33427	T	-0.407494	0.32515	T	0.218826062774515	0.21405	T	0.811819	0.48242	T	0.07607894	0.17182	0.063447304	0.12568	0.07607894	0.17181	0.063447304	0.12568	-6.732	0.52051	T	.	.	0.151	0.35519	B	.;.	.;.	4.511460	0.70647	25.6	0.99935906987742806	0.99621	0.81270	0.40709	D	AEFDBCI	0.787963	0.71759	D	0.383801876404025	0.60545	4.244477	0.377502786412661	0.60181	4.20286	0.999999790480107	0.74766	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.562822	0.20929	0	.	.	3.89	3.89	0.44098	2.813000	0.47701	5.597000	0.49014	0.599000	0.40250	0.941000	0.32681	1.000000	0.68203	0.999000	0.91618	0.3799:0.6201:0.0:0.0	9.579	0.38639	114	0.95383	Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000508	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	866.63	43	chr2	219557366	.	C	T	866.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.877;DP=231;ExcessHet=0;FS=3.119;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.15;ReadPosRankSum=1.38;SOR=0.653	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr2	219608392	219608392	A	G	exonic	STK11IP	.	nonsynonymous SNV	STK11IP:NM_052902:exon14:c.A1565G:p.E522G	.	371	1145	5	1	0	7	0.00304745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00217011080565	0.0002	0.000798722	0.0003	0.0003	0	0	0	0.0003	0	0.0007	0.0002135	33	154602	rs369827406	0.0003	0.0003	0.0003	0.0003	0.0152	0.0003	0.0002	0.0126	0.0117	0.0002	0.0005	0.0012	0	0	0.0152	0.0002	0.0008	0.0005	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0002	0.0011	0.0009	7.225e-05	0	0.0016	0.0003	0	0	0.0102	0.0003	0	0.0004	0.15	0.24661	T	0.005	0.72224	D	.	.	.	.	.	.	0.048305	0.01984	N	2.111440	1	0.08975	N	.	.	.	3.37	0.05847	T	-1.98	0.45769	N	0.154	0.15888	-0.9796	0.35094	T	0.014	0.05465	T	10	0.010678828	0.00237	T	0.00217	0.04071	T	0.047	0.12962	.	.	0.0884992946249	0.08302	0.2006983539454964	0.19986	.	.	0.207448452711	0.00708	T	0.013502	0.11669	T	-0.273437	0.11377	T	-0.63055	0.10373	T	0.00765861515961044	0.00089	T	0.288971	0.05229	T	0.058749415	0.11856	0.040235624	0.04303	0.058749415	0.11856	0.040235624	0.04302	-4.831	0.34951	T	.	.	0.080	0.07985	B	.	.	0.984802	0.13624	10.16	0.94235525896982819	0.24496	0.12790	0.17481	N	AEFDBI	0.069180	0.13680	N	-0.944707940669642	0.09812	0.466048	-0.996344348451302	0.09867	0.4934386	0.962008218869376	0.28592	0.719381	0.83141	0	0.723133	0.82719	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.44	-1.48	0.08286	0.245000	0.17917	0.898000	0.22526	0.756000	0.94297	0.208000	0.24400	0.033000	0.21346	0.313000	0.24807	0.3672:0.212:0.0775:0.3432	1.525	0.02371	147	0.94143	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007576	0.010101	0.008152	0.017544	0.000000	0.025862	0.003086	0.000000	0.08333	421.27	35	chr2	219608392	.	A	G	421.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.171;DP=185;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.2;ReadPosRankSum=-1.213;SOR=0.657	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1230	5	0	1	1
chr2	222424661	222424661	G	A	exonic	SGPP2	.	nonsynonymous SNV	SGPP2:NM_152386:exon1:c.G59A:p.R20H	.	429	1069	23	1	0	25	0.011558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	.	0.00399361	0.0138	0	0	0	.	0.0039	0	0.0180	0.0012872	199	154602	rs376841716	0.0023	0.0023	0.0020	0.0026	0.0126	0.0022	0.0022	0.0119	0.0116	0.0002	0.0020	0.0027	0.0001	0.0003	0.0105	0.0017	0.0030	0.0126	0.0018	0.0018	0.0013	0.0022	0.0120	0.0016	0.0015	0.0095	0.0086	0.0004	0	0.0012	0.0026	0.0002	0.0002	0.0171	0.0023	0.0024	0.0120	0.386	0.10980	T	0.452	0.12884	T	0.008	0.14655	B	0.003	0.08700	B	0.013435	0.28844	N	0.276698	0.554989	0.32165	D	0.895	0.22405	L	.	.	.	-0.72	0.20358	N	0.091	0.06990	-1.0788	0.07582	T	0.038	0.16333	T	9	0.0041615367	0.00082	T	.	.	.	0.017	0.02790	.	.	0.230578612272	0.22657	0.42760346846087455	0.42677	0.149012571831	0.16801	0.90182942152	0.96641	D	0.234663	0.60174	T	-0.500115	0.00571	T	-0.479481	0.24501	T	0.0187840325698881	0.00590	T	0.728227	0.34274	T	0.07421612	0.16640	0.059101015	0.11033	0.07421612	0.16640	0.059101015	0.11032	-4.932	0.36093	T	.	.	0.138	0.30130	B	.	.	2.848171	0.37596	20.5	0.991557897066076	0.53959	0.26767	0.23087	N	AEFDBHCI	0.118203	0.23123	N	-0.520355358974004	0.21423	1.136781	-0.344598151552555	0.26677	1.475046	0.999999379710716	0.74766	0.59774	0.34471	0	0.52208	0.09955	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.96	2.05	0.25860	0.961000	0.28864	4.382000	0.43185	0.552000	0.28158	0.901000	0.31451	1.000000	0.68203	0.990000	0.65344	0.0946:0.157:0.5873:0.1611	4.009	0.09103	778	0.48011	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007421	0.000000	0.003165	0.000000	0.000000	0.000000	0.016129	0.007143	0.08333	533.27	13	chr2	222424661	.	G	A	533.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.544;DP=155;ExcessHet=0;FS=5.969;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=23.19;ReadPosRankSum=1.33;SOR=0.086	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1092	5	0	1	1
chr2	223777776	223777776	G	A	exonic	AP1S3	.	nonsynonymous SNV	AP1S3:NM_001039569:exon2:c.C97T:p.R33W	.	429	1089	4	0	0	4	0.00183318	.	.	.	170219	AP1S3-related_disorder|not_specified|Psoriasis_15,_pustular,_susceptibility_to|not_provided	.|MedGen:CN169374|MONDO:MONDO:0014494,MedGen:C4015235,OMIM:616106,Orphanet:247353|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.313	.	0.0086	0.00239617	0.0080	0.0013	0.0062	0	0.0101	0.0109	0.0122	0.0046	0.0076713	1186	154602	rs138292988	0.0099	0.0099	0.0100	0.0097	0.0113	0.0097	0.0097	0.0111	0.0111	0.0016	0.0041	0.0035	5.039e-05	0.0108	0.0012	0.0113	0.0096	0.0042	0.0072	0.0072	0.0075	0.0069	0.0117	0.0068	0.0067	0.0110	0.0107	0.0018	0	0.0042	0.0052	0	0.0101	0.0034	0.0117	0.0047	0.0048	0.011	0.55530	D	0.003	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.755	0.95055	H	.	.	.	-7.58	0.95574	D	0.917	0.91968	0.349	0.88323	D	0.522	0.82168	D	9	0.029742658	0.01100	T	.	.	.	0.313	0.63482	.	.	0.502005994047	0.49837	0.4718000474439679	0.47099	0.386451994408	0.39933	0.509438693523	0.40144	T	0.344173	0.71272	T	-0.259828	0.12919	T	-0.134971	0.60551	T	0.266457766294479	0.23595	T	0.994288	0.98210	D	0.7351252	0.80014	0.5872581	0.76060	0.6752352	0.76715	0.5527871	0.74139	-12.222	0.89766	D	.	.	0.664	0.76979	P	.;.;.;.;.	.;.;.;.;.	4.271032	0.64981	24.8	0.99924738981763028	0.98980	0.91984	0.54689	D	AEFBI	0.820581	0.74134	D	0.740380632505996	0.82276	7.723087	0.636973144908876	0.77643	6.719214	0.0459792052636104	0.14672	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.81	4.91	0.63897	2.676000	0.46550	3.773000	0.39761	-0.134000	0.12905	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.0:0.7201:0.2798	13.760	0.62447	733	0.53988	.;.;AP complex, mu/sigma subunit;AP complex, mu/sigma subunit;AP complex, mu/sigma subunit	.	.	.	.	rs138292988	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.07143	756.44	33	chr2	223777776	.	G	A	756.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.774;DP=249;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=1.32;SOR=0.698	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1069	6	0	1	0
chr2	224845579	224845579	C	T	exonic	DOCK10	.	nonsynonymous SNV	DOCK10:NM_001290263:exon20:c.G2281A:p.V761I,DOCK10:NM_001363762:exon20:c.G2338A:p.V780I,DOCK10:NM_014689:exon20:c.G2299A:p.V767I	.	442	1079	1	0	0	1	0.000463177	.	.	.	3659442	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.015	0.00906759860767	0.0002	.	0.0001	0.0001	8.654e-05	0.0001	0.0008	9.005e-05	0.0011	6.067e-05	0.0001035	16	154602	rs201901572	6.913e-05	6.977e-05	7.082e-05	6.742e-05	0.0009	5.783e-05	5.394e-05	0.0003	0.0002	0.0003	0.0002	0	0	0.0003	0.0009	4.319e-05	0.0001	3.484e-05	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0003	0.0002	9.666e-05	0	0.0006	0	0	0.0009	0	2.94e-05	0.0010	0	0.509	0.07944	T	0.605	0.10572	T	0.01	0.15535	B	0.023	0.19966	B	0.002648	0.36173	N	0.283820	0.997408	0.22672	N	0.74	0.18910	N	2.4	0.15608	T	-0.38	0.13418	N	0.26	0.29659	-1.0044	0.28636	T	0.027	0.11485	T	10	0.03475076	0.01696	T	0.009068	0.23869	T	0.015	0.02232	.	.	0.149567049428	0.14543	0.1386243970455843	0.13785	0.130723557862	0.14746	0.38186326623	0.22521	T	0.027978	0.20368	T	-0.503531	0.00546	T	-0.663505	0.08032	T	0.0264788623899221	0.01472	T	0.808019	0.45805	T	0.009757505	0.00004	0.022853468	0.00303	0.009757505	0.00004	0.022853468	0.00303	-4.498	0.30863	T	.	.	0.07	0.06433	B	.;.;.	.;.;.	2.022760	0.25704	16.86	0.92837987753367746	0.22372	0.79061	0.39107	D	AEFBI	0.086561	0.17551	N	-0.527452287582671	0.21196	1.123109	-0.357095140306277	0.26290	1.451179	0.880775283677917	0.25616	0.732398	0.92422	0	0.724815	0.89359	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	5.43	2.18	0.26813	0.878000	0.27770	-0.022000	0.12912	-0.814000	0.03034	0.971000	0.34370	0.001000	0.17328	0.939000	0.47918	0.0:0.7643:0.0:0.2357	11.416	0.49198	823	0.40596	.;DHR-1 domain|DHR-1 domain|Dedicator of cytokinesis D, C2 domain;DHR-1 domain|DHR-1 domain|Dedicator of cytokinesis D, C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	525.46	33	chr2	224845579	.	C	T	525.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.425;DP=226;ExcessHet=0;FS=2.488;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-0.735;SOR=0.537	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1304	6	0	1	0
chr2	227293291	227293291	G	C	exonic	COL4A3	.	nonsynonymous SNV	COL4A3:NM_000091:exon38:c.G3311C:p.G1104A	Alport syndrome, autosomal dominant, Autosomal dominant;Alport syndrome, autosomal recessive, Autosomal recessive;Hematuria, benign familial, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	YES	3716774	Alport_syndrome_3b,_autosomal_recessive|Autosomal_dominant_Alport_syndrome|Hematuria,_benign_familial,_2	MONDO:MONDO:0957811,MedGen:C5882699,OMIM:620536|MONDO:MONDO:0007086,MedGen:C5882663,OMIM:104200,Orphanet:63,Orphanet:88918|MONDO:MONDO:0958186,MedGen:C5830421,OMIM:620320	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	0.967	0.918336046561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	2.736e-06	2.724e-06	2.751e-06	0.0002	6.4e-07	4.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	0	1.657e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000022	0.55875	D	0.000000	1	0.81001	D	3.61	0.93830	H	-5.98	0.99601	D	-5.38	0.88630	D	0.931	0.93605	0.968	0.96674	D	0.992	0.99807	D	10	0.99338204	0.99867	D	0.918336	0.99397	D	0.967	0.99571	0.999	0.99990	0.956458347045	0.95599	0.9460237556403748	0.94584	0.203387455224	0.22757	0.639426231384	0.58482	T	0.678079	0.90517	D	0.557126	0.96041	D	0.562496	0.95980	D	0.997464656829834	0.91620	D	0.955504	0.91515	D	0.82222474	0.85370	0.812013	0.89028	0.82222474	0.85371	0.812013	0.89029	-10.198	0.75088	D	0.8268452681746912	0.89858	0.343	0.56105	A	.;.	.;.	3.928717	0.57408	23.9	0.99564906848005785	0.72014	0.98492	0.83351	D	AEFBI	0.523359	0.54699	D	1.0237759536302	0.96430	14.685	0.92434552035115	0.96548	14.834	0.916934022098801	0.26527	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	5.746000	0.68317	11.601000	0.93476	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.776000	0.36750	0.0:0.0:1.0:0.0	15.769	0.77920	889	0.27310	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	986.46	41	chr2	227293291	.	G	C	986.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.79;DP=269;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-2.636;SOR=0.604	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr2	227363746	227363746	T	G	exonic	TM4SF20	.	nonsynonymous SNV	TM4SF20:NM_024795:exon4:c.A668C:p.K223T	.	433	1043	44	2	0	48	0.022493	.	.	.	1602291	not_provided|TM4SF20-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.120	.	0.0035	0.00539137	0.0076	0.0010	0.0016	0	0.0003	0.0062	0.0088	0.0281	0.0068757	1063	154602	rs137891000	0.0063	0.0063	0.0057	0.0070	0.0280	0.0062	0.0062	0.0271	0.0267	0.0011	0.0029	0.0329	2.519e-05	0.0006	0.0245	0.0046	0.0083	0.0280	0.0046	0.0046	0.0040	0.0052	0.0246	0.0043	0.0042	0.0210	0.0197	0.0007	0	0.0065	0.0354	0	0.0003	0.0136	0.0045	0.0057	0.0246	0.075	0.34444	T	0.032	0.53426	D	0.954	0.54400	P	0.812	0.58704	P	0.180637	0.17112	N	0.601254	1	0.08975	N	2.11	0.58565	M	1.53	0.30401	T	-2.04	0.46842	N	0.177	0.19055	-1.0304	0.20325	T	0.085	0.33269	T	10	0.0039727986	0.00077	T	.	.	.	0.120	0.33359	.	.	0.379881503574	0.37595	0.1257288560982809	0.12498	0.0415005756908	0.04460	0.282254904509	0.07809	T	0.007505	0.06912	T	-0.525279	0.00410	T	-0.506354	0.21690	T	0.0176095059824936	0.00494	T	0.588241	0.21547	T	0.086876065	0.20208	0.092055134	0.21675	0.08487282	0.19664	0.092055134	0.21674	-4.551	0.31550	T	.	.	0.184	0.39865	B	.	.	1.267217	0.16655	12.68	0.99460746838078851	0.65788	0.08078	0.14050	N	AEFBHCI	0.099348	0.20000	N	-0.236041235446511	0.31664	1.777796	-0.409087295706952	0.24730	1.355901	0.999957532355736	0.48110	0.525926	0.21836	0	0.615948	0.52940	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	5.62	1.98	0.25351	-0.109000	0.10810	0.259000	0.16521	0.665000	0.62972	0.001000	0.13787	0.000000	0.08366	0.836000	0.39433	0.0:0.2599:0.0:0.7401	7.081	0.24410	925	0.17918	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.017623	0.010101	0.012228	0.032164	0.050000	0.000000	0.003049	0.030303	0.08333	1388.27	33	chr2	227363746	.	T	G	1388.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.41;DP=284;ExcessHet=0;FS=2.46;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-0.144;SOR=0.973	GT:AD:DP:GQ:PL	0/1:56,60:116:99:1398,0,1251	5	0	1	1
chr2	227379186	227379186	A	G	exonic	TM4SF20	.	nonsynonymous SNV	TM4SF20:NM_024795:exon1:c.T83C:p.I28T	.	420	1096	5	1	0	7	0.00318327	.	.	.	1643702	not_provided|TM4SF20-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.090	0.00840708997818	0.0018	0.00159744	0.0014	0	0.0014	0	0.0017	0.0021	0	6.056e-05	0.0014165	219	154602	rs138536526	0.0017	0.0017	0.0018	0.0017	0.0020	0.0017	0.0017	0.0019	0.0019	0.0003	0.0018	0.0008	0	0.0012	0.0019	0.0020	0.0019	0.0002	0.0017	0.0017	0.0018	0.0016	0.0025	0.0015	0.0015	0.0022	0.0021	0.0003	0	0.0025	0.0014	0	0.0019	0.0068	0.0025	0.0028	0.0004	0.286	0.15201	T	0.008	0.67890	D	0.015	0.17086	B	0.048	0.24975	B	0.294432	0.14709	N	0.653406	1	0.08975	N	2.045	0.56016	M	1.35	0.34648	T	-2.32	0.51478	N	0.276	0.31253	-1.0015	0.29488	T	0.090	0.34518	T	10	0.016111732	0.00339	T	0.008407	0.22257	T	0.090	0.26093	.	.	0.238096912614	0.23440	0.4702324768199751	0.46942	0.0117463660798	0.01108	0.544604420662	0.45096	T	0.013163	0.11438	T	-0.535146	0.00358	T	-0.546403	0.17672	T	0.0388704127529429	0.03488	T	0.609739	0.23084	T	0.087726615	0.20439	0.09108261	0.21396	0.087726615	0.20439	0.09108261	0.21396	-5.286	0.39804	T	.	.	0.306	0.53425	B	.	.	1.356227	0.17643	13.29	0.80408421072147973	0.13189	0.10069	0.15675	N	AEFDGBHCI	0.153685	0.27859	N	-0.577957018991248	0.19615	1.027989	-0.585679621263008	0.19866	1.067808	0.999999438124585	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.77	4.62	0.56946	2.865000	0.48111	6.100000	0.53542	0.691000	0.84096	0.042000	0.21073	0.728000	0.26397	0.090000	0.17789	0.829:0.0:0.171:0.0	7.196	0.25032	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.005435	0.000000	0.050000	0.008621	0.006098	0.000000	0.1429	2427.24	33	chr2	227379186	.	A	G	2427.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.683;DP=368;ExcessHet=0.3476;FS=2.305;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.883;SOR=0.555	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1320	5	0	2	0
chr2	227687447	227687447	C	T	exonic	SLC19A3	.	nonsynonymous SNV	SLC19A3:NM_001371411:exon6:c.G1441A:p.V481M,SLC19A3:NM_001371412:exon6:c.G1441A:p.V481M,SLC19A3:NM_025243:exon6:c.G1441A:p.V481M,SLC19A3:NM_001371413:exon7:c.G1429A:p.V477M,SLC19A3:NM_001371414:exon7:c.G1429A:p.V477M	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	825813	Biotin-responsive_basal_ganglia_disease|not_provided	MONDO:MONDO:0011841,MedGen:C1843807,OMIM:607483,Orphanet:199348,Orphanet:65284|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.213	0.0695557502369	0.0002	.	4.944e-05	0.0005	0	0	0	0	0	6.06e-05	3.88e-05	6	154602	rs368717276	2.189e-05	2.189e-05	2.314e-05	2.063e-05	0.0006	1.584e-05	1.356e-05	0.0004	0.0003	0.0006	0	0	0	0	0.0002	5.396e-06	8.28e-05	0	7.227e-05	7.224e-05	7.706e-05	6.725e-05	0.0003	3.971e-05	3.127e-05	0.0001	0.0001	0.0003	0	0	0	0	0	0	0	0	0	0.108	0.29420	T	0.099	0.38891	T	0.022	0.18677	B	0.004	0.10090	B	0.028272	0.01682	N	2.121240	1	0.08975	N	0	0.06538	N	-2.05	0.85799	D	-0.25	0.11008	N	0.07	0.04307	-0.5468	0.66907	T	0.481	0.80180	T	10	0.052578896	0.05314	T	0.069556	0.70760	D	0.213	0.50496	.	.	0.431150418975	0.42736	0.12242099853605641	0.12169	0.0745184249875	0.08358	0.182141929865	0.00115	T	0.047482	0.27735	T	-0.421034	0.01685	T	-0.512561	0.21052	T	0.031740362757778	0.02265	T	0.433757	0.11839	T	0.026295377	0.01669	0.035618242	0.02847	0.026295377	0.01668	0.035618242	0.02846	-4.775	0.34298	T	.	.	0.080	0.08224	B	.;.;.	.;.;.	0.589602	0.09582	6.355	0.79849812376572493	0.12929	0.05068	0.10861	N	AEFDBHCIJ	0.097816	0.19722	N	-1.23651169007932	0.04481	0.2023089	-1.22375154153162	0.05530	0.2637502	0.00125810974625766	0.08381	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.65	1.88	0.24630	0.741000	0.25870	0.844000	0.22071	-0.172000	0.11096	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.0:0.6327:0.0:0.3673	10.224	0.42391	600	0.68026	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1163.63	34	chr2	227687447	.	C	T	1163.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.099;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=0.64;SOR=0.71	GT:AD:DP:GQ:PL	0/1:33,52:85:99:1174,0,661	6	0	1	0
chr2	229591816	229591816	C	T	exonic	DNER	.	nonsynonymous SNV	DNER:NM_139072:exon2:c.G349A:p.D117N	.	415	1099	1	0	7	8	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.240382747405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	3.42e-06	1.363e-06	5.51e-06	2.992e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.992e-05	0	0	0	0	0	2.701e-06	1.659e-05	0	6.587e-06	6.572e-06	0	1.349e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	1.0	0.00964	T	0.022	0.57587	D	0.017	0.17573	B	0.003	0.08700	B	0.164714	0.17554	N	0.628659	0.976235	0.39258	D	-0.04	0.05001	N	-2.25	0.87272	D	-0.57	0.17210	N	0.181	0.19593	-0.6581	0.62359	T	0.319	0.68839	T	10	0.10538623	0.19478	T	0.240383	0.88672	D	0.187	0.46274	0.307	0.27806	0.575483156055	0.57216	0.3690868176414553	0.36822	0.128894738699	0.14537	0.382844746113	0.22659	T	0.173935	0.52298	T	-0.16747	0.25619	T	-0.478335	0.24622	T	0.483704030513763	0.32033	T	0.289471	0.05256	T	0.034141365	0.03773	0.030199641	0.01446	0.034141365	0.03773	0.030199641	0.01446	-3.787	0.20610	T	.	.	0.081	0.08224	B	.	.	0.778799	0.11490	8.091	0.95082318958236756	0.26136	0.52178	0.29070	D	AEFDIJ	0.220625	0.34535	N	-0.709520483023827	0.15753	0.7966866	-0.553981751711738	0.20700	1.116468	0.989080022798683	0.31718	0.752111	0.98806	0	0.59043	0.45803	0	0.389834	0.06288	2	0.564101	0.26826	0	.	.	4.1	4.1	0.47196	0.266000	0.18300	0.336000	0.17333	0.599000	0.40250	0.286000	0.25196	0.115000	0.22839	0.630000	0.32157	0.0:0.905:0.0:0.095	10.091	0.41618	951	0.11083	EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1395.49	35	chr2	229591816	.	C	T	1395.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.452;DP=301;ExcessHet=0;FS=0.742;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-0.097;SOR=0.839	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1010	6	0	1	0
chr2	229976317	229976317	A	G	exonic	FBXO36	.	nonsynonymous SNV	FBXO36:NM_174899:exon2:c.A173G:p.H58R	.	441	1066	15	0	0	15	0.00698649	.	.	.	2344268	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.249	0.0150657575556	0.0005	0.000199681	0.0010	0	0.0005	0	0	0.0012	0	0.0022	0.0009508	147	154602	rs139081403	0.0007	0.0007	0.0006	0.0007	0.0113	0.0006	0.0006	0.0091	0.0083	8.965e-05	0.0010	0.0047	0	0	0.0113	0.0004	0.0013	0.0024	0.0007	0.0007	0.0006	0.0008	0.0023	0.0006	0.0006	0.0017	0.0015	4.809e-05	0	0.0023	0.0049	0	9.414e-05	0.0034	0.0006	0.0014	0.0010	0.05	0.41096	D	0.026	0.55759	D	0.952	0.70673	P	0.601	0.62418	P	0.000000	0.84330	D	0.000000	0.884071	0.27999	N	2.695	0.78878	M	0.7	0.55266	T	-5.08	0.83092	D	0.564	0.63120	-0.4428	0.70637	T	0.329	0.69682	T	10	0.020536453	0.00475	T	0.015066	0.35586	T	0.249	0.55752	.	.	0.829300019503	0.82767	0.7481369098619418	0.74759	0.180973065125	0.20352	0.464250594378	0.33892	T	0.164	0.50943	T	-0.331705	0.05984	T	-0.255105	0.49311	T	0.123124136544954	0.14732	T	0.786621	0.43725	T	0.5184272	0.68169	0.503896	0.71323	0.5184272	0.68170	0.503896	0.71324	-3.344	0.14311	T	.	.	0.234	0.59948	B	.;.;.	.;.;.	3.820712	0.55171	23.6	0.99693346224742629	0.80112	0.85925	0.45116	D	AEFBI	0.460414	0.51060	N	0.515172305933091	0.67985	5.155493	0.461323216665259	0.65446	4.825021	0.83906728037772	0.24832	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.421255	0.06892	1	.	.	5.74	5.74	0.90070	5.674000	0.67788	10.192000	0.83237	0.748000	0.86766	0.989000	0.36753	1.000000	0.68203	0.971000	0.54645	1.0:0.0:0.0:0.0	13.605	0.61507	963	0.08280	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.000000	0.009511	0.023392	0.000000	0.017241	0.003049	0.003788	0.07143	363.63	35	chr2	229976317	.	A	G	363.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.427;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.86;ReadPosRankSum=-1.139;SOR=0.704	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1000	6	0	1	0
chr2	230049775	230049775	A	G	exonic	SLC16A14	.	nonsynonymous SNV	SLC16A14:NM_152527:exon3:c.T389C:p.F130S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.820	0.165928985882	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	0.9	0.52645	P	0.656	0.61462	P	0.000017	0.62929	D	0.000000	0.997681	0.44098	D	2.545	0.74286	M	-1.41	0.80560	T	-4.03	0.76174	D	0.834	0.82964	0.379	0.88778	D	0.631	0.87074	D	10	0.7971642	0.79174	D	0.165929	0.84467	D	0.820	0.94238	0.627	0.76254	0.848297767726	0.84684	0.8387562794884325	0.83835	1.50845117476	0.87186	0.689074337482	0.65573	T	0.484097	0.81155	T	0.328638	0.85071	D	0.234289	0.84875	D	0.99260675907135	0.83127	D	0.789921	0.43036	T	0.59969085	0.72675	0.65179795	0.79624	0.59969085	0.72676	0.65179795	0.79625	-6.488	0.50194	T	.	.	0.826	0.84779	P	.;.;.	.;.;.	4.581552	0.72376	25.8	0.9980659413246763	0.89085	0.95474	0.64864	D	AEFDIJ	0.579395	0.58022	D	0.591873501533999	0.72667	5.841917	0.549528249228243	0.71365	5.64368	0.0170180517342336	0.12902	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.8	4.8	0.61157	5.081000	0.64274	10.732000	0.83642	0.751000	0.87719	0.999000	0.42656	1.000000	0.68203	0.897000	0.43391	1.0:0.0:0.0:0.0	13.108	0.58671	953	0.10115	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	351.53	33	chr2	230049775	.	A	G	351.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.67;DP=198;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=1.86;SOR=0.527	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,903	6	0	1	0
chr2	231037813	231037813	-	GAGGGCGGC	exonic	C2orf72	.	nonframeshift insertion	C2orf72:NM_001144994:exon1:c.248_249insGAGGGCGGC:p.A89_G90insRAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009989	26	26028	rs1466699151	0.0064	0.0037	0.0064	0.0065	0.0098	0.0063	0.0062	0.0065	0.0065	0.0008	0.0019	0.0017	0	0.0026	0.0098	0.0067	0.0056	0.0035	0.0047	0.0046	0.0049	0.0044	0.0082	0.0044	0.0043	0.0076	0.0074	0.0012	0	0.0032	0.0015	0	0.0006	0.0074	0.0082	0.0030	0.0047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	66.79	1	chr2	231037813	.	A	AGAGGGCGGC	66.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=17;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=-0.524;SOR=0.368	GT:AD:DP:GQ:PL	0/1:3,2:5:75:75,0,120	6	0	1	0
chr2	231460728	231460730	TCG	-	exonic	NCL	.	nonframeshift deletion	NCL:NM_005381:exon4:c.750_752del:p.D250del	.	409	1099	14	0	0	14	0.00632911	.	.	.	2819033	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0040	0.00159744	0.0027	0.0022	0.0016	0.0007	0.0014	0.0022	0.0022	0.0069	0.0005763	15	26028	rs534320031	0.0030	0.0031	0.0028	0.0032	0.0064	0.0029	0.0029	0.0060	0.0058	0.0032	0.0021	0.0005	0.0005	0.0014	0.0061	0.0030	0.0029	0.0064	0.0026	0.0026	0.0026	0.0026	0.0075	0.0024	0.0023	0.0055	0.0049	0.0020	0.0088	0.0029	0.0003	0.0010	0.0015	0.0136	0.0029	0.0019	0.0075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020657	0.020408	0.012465	0.014599	0.000000	0.017544	0.015432	0.034615	0.07143	612.41	36	chr2	231460727	.	TTCG	T	612.41	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.8;DP=252;ExcessHet=0;FS=4.716;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-1.394;SOR=1.627	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1403	6	0	1	0
chr2	231801165	231801165	G	A	exonic	COPS7B	.	nonsynonymous SNV	COPS7B:NM_001282950:exon7:c.G647A:p.R216H,COPS7B:NM_001308381:exon7:c.G662A:p.R221H	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00392519995092	.	.	6.06e-05	0.0011	0	0	0	0	0	0	6.5e-06	1	154602	rs758206981	5.936e-05	5.678e-05	5.081e-05	6.815e-05	0.0009	4.889e-05	4.497e-05	0.0003	0.0002	0.0002	0.0001	0	0	0	0.0009	5.283e-05	0.0002	0	5.259e-05	5.255e-05	8.993e-05	1.346e-05	0.0001	2.558e-05	1.831e-05	2.265e-05	9.09e-06	4.826e-05	0	0.0001	0	0	0	0	4.41e-05	0.0005	0	0.224	0.26629	T	0.006	0.70582	D	0.0	0.02946	B	0.0	0.01387	B	0.503015	0.05103	N	1.309610	1	0.08975	N	.	.	.	0.85	0.47477	T	-1.05	0.27463	N	0.063	0.05162	-1.0212	0.23324	T	0.080	0.31795	T	9	0.029213995	0.01048	T	0.003925	0.09242	T	0.022	0.04323	0.241	0.17371	0.0954503805726	0.09146	0.13512184459811755	0.13436	.	.	.	.	.	.	.	.	-0.543957	0.00317	T	-0.782465	0.02379	T	0.0259346589446068	0.01397	T	0.40486	0.10377	T	.	.	.	.	.	.	.	.	-3.849	0.21538	T	.	.	0.101	0.22024	B	.;.	.;.	-0.045213	0.03982	0.899	0.78126796978182289	0.12166	0.05095	0.10894	N	AEFBCI	0.031545	0.03397	N	-1.75687439393346	0.00659	0.02844899	-1.89196887231299	0.00508	0.02250025	0.472966630396795	0.20722	0.562547	0.31514	0	0.546412	0.12157	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	1.91	-3.83	0.03988	-0.281000	0.08489	-0.410000	0.09352	-1.934000	0.00496	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5456:0.0:0.1941:0.2603	3.895	0.08640	923	0.18507	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	677.49	34	chr2	231801165	.	G	A	677.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.753;DP=234;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.403;SOR=0.704	GT:AD:DP:GQ:PL	0/1:33,31:64:99:688,0,779	6	0	1	0
chr2	232336581	232336583	AGG	-	exonic	DIS3L2	.	nonframeshift deletion	DIS3L2:NM_152383:exon21:c.2609_2611del:p.E874del	Perlman syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	517951	Perlman_syndrome	MONDO:MONDO:0009965,MedGen:C0796113,OMIM:267000,Orphanet:2849	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs749247083	2.128e-05	2.394e-05	1.776e-05	2.483e-05	6.957e-05	1.525e-05	1.329e-05	2.995e-05	2.038e-05	0	0	0	0	0	0	2.248e-05	0	6.957e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1916.23	33	chr2	232336580	.	AAGG	A	1916.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.347;DP=269;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=24.57;ReadPosRankSum=0.178;SOR=0.776	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1163	5	0	1	1
chr2	232381689	232381689	C	G	exonic	ALPP	.	nonsynonymous SNV	ALPP:NM_001632:exon11:c.C1502G:p.P501R	.	408	1104	8	2	0	12	0.00540541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.194341568806	.	.	0.0007	0.0016	0.0004	0.0003	0.0003	0.0007	0	0.0011	0.0006404	99	154602	rs2981374	0.0021	0.0040	0.0021	0.0021	0.0033	0.0020	0.0020	0.0021	0.0020	0.0018	0.0009	0.0062	0.0016	0.0011	0.0033	0.0021	0.0028	0.0017	0.0037	0.0050	0.0041	0.0033	0.0045	0.0034	0.0033	0.0040	0.0039	0.0032	0.0022	0.0023	0.0118	0.0010	0.0007	0.0071	0.0045	0.0058	0.0045	0.073	0.34800	T	0.097	0.39190	T	0.858	0.47274	P	0.187	0.36167	B	0.141761	0.18266	N	0.505114	1	0.08975	N	0	0.06538	N	-3.71	0.95387	D	-1.73	0.41046	N	0.187	0.20395	-0.1675	0.78488	T	0.602	0.85847	D	10	0.009569526	0.00216	T	0.194342	0.86357	D	0.228	0.52768	.	.	0.890016908248	0.88892	0.42774573701791496	0.42691	0.837879280182	0.67888	0.389126300812	0.23546	T	0.106381	0.41767	T	-0.304152	0.08274	T	-0.234297	0.51353	T	0.00860221500970257	0.00105	T	0.226077	0.02982	T	0.048716564	0.08536	0.12381717	0.29852	0.048716564	0.08535	0.12381717	0.29851	-4.381	0.29298	T	.	.	0.075	0.05535	B	.	.	2.151778	0.27411	17.45	0.97079356919285775	0.32272	0.25135	0.22607	N	ALL	0.094382	0.19083	N	-0.783685970697968	0.13735	0.6787938	-0.935044476847748	0.11271	0.5731606	0.982271854747345	0.30376	0.59774	0.34471	0	0.615948	0.52940	0	0.596394	0.31383	0	0.63947	0.58350	0	.	.	2.18	1.21	0.20240	0.807000	0.26800	0.017000	0.13531	0.333000	0.19617	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2176:0.5701:0.2123:0.0	5.993	0.18710	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	33.44	35	chr2	232381689	.	C	G	33.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.66;DP=282;ExcessHet=0;FS=16.94;MLEAC=1;MLEAF=0.071;MQ=53.92;MQRankSum=-5.067;QD=0.46;ReadPosRankSum=-2.685;SOR=3.875	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	6	0	1	0
chr2	232381722	232381722	G	C	exonic	ALPP	.	nonsynonymous SNV	ALPP:NM_001632:exon11:c.G1535C:p.R512P	.	406	1110	5	1	0	7	0.00314324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	0.0127332440605	0.0005	.	0.0003	0.0016	0.0001	0.0008	0	4.736e-05	0	0.0004	0.0002911	45	154602	rs377067025	0.0005	0.0019	0.0004	0.0005	0.0019	0.0004	0.0004	0.0016	0.0014	0.0019	0.0004	0.0021	0.0019	0.0003	0.0017	0.0003	0.0006	0.0005	0.0020	0.0032	0.0022	0.0017	0.0025	0.0018	0.0017	0.0020	0.0019	0.0019	0	0.0009	0.0079	0.0010	0.0002	0.0068	0.0023	0.0033	0.0025	0.328	0.13219	T	0.283	0.21478	T	0.0	0.02946	B	0.0	0.01387	B	0.486674	0.05012	N	1.313690	1	0.08975	N	0	0.06538	N	-3.76	0.95561	D	1.07	0.01280	N	0.096	0.07673	-0.5907	0.65193	T	0.600	0.85740	D	10	0.004428774	0.00090	T	0.012733	0.31557	T	0.303	0.62400	.	.	0.622101920318	0.61903	0.5300166411934661	0.52925	0.91577893214	0.71236	0.432348459959	0.29530	T	0.040331	0.25493	T	-0.377759	0.03218	T	-0.328631	0.41621	T	0.0022733665266846	0.00024	T	0.225177	0.02943	T	0.09260563	0.21728	0.1150696	0.27778	0.09260563	0.21728	0.1150696	0.27778	-1.913	0.02869	T	.	.	0.068	0.02829	B	.	.	0.295926	0.06720	3.228	0.47075973611670091	0.03821	0.01967	0.05961	N	AEFDBHCIJ	0.032395	0.03651	N	-2.56863680269495	0.00011	0.0004785188	-2.64759831422115	0.00010	0.0004641048	0.999988639229802	0.51787	0.59774	0.34471	0	0.615948	0.52940	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	1.63	-3.25	0.04765	-0.920000	0.04121	-1.501000	0.05297	-2.651000	0.00223	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1138:0.3839:0.2785:0.2239	2.720	0.04877	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	40.46	50	chr2	232381722	.	G	C	40.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.92;DP=279;ExcessHet=0;FS=9.813;MLEAC=1;MLEAF=0.071;MQ=56.87;MQRankSum=-6.858;QD=0.67;ReadPosRankSum=-2.891;SOR=1.465	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	6	0	1	0
chr2	232381776	232381776	A	G	exonic	ALPP	.	nonsynonymous SNV	ALPP:NM_001632:exon11:c.A1589G:p.E530G	.	396	1108	17	1	0	19	0.00850112	.	.	.	2428015	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.260	0.0273154630792	.	.	9.994e-05	0	0.0002	0	0	0.0001	0	0.0001	0.0007684	20	26028	rs558432787	0.0010	0.0014	0.0010	0.0010	0.0033	0.0009	0.0009	0.0020	0.0016	0.0002	0.0004	0.0050	0	0.0007	0.0033	0.0009	0.0016	0.0011	0.0027	0.0030	0.0030	0.0024	0.0043	0.0025	0.0024	0.0039	0.0037	0.0005	0.0022	0.0012	0.0139	0	0.0006	0.0068	0.0043	0.0048	0.0025	0.393	0.10730	T	0.592	0.08161	T	0.0	0.02946	B	0.0	0.01387	B	0.000607	0.00648	N	4.191840	1	0.08975	N	0	0.06538	N	-3.78	0.95629	D	0.71	0.02130	N	0.122	0.11340	-0.1948	0.77805	T	0.589	0.85290	D	10	0.0056685805	0.00126	T	0.027315	0.50142	D	0.260	0.57221	.	.	0.673135118597	0.67036	0.5615378092151521	0.56080	0.746907957965	0.63572	0.399499356747	0.24999	T	0.049766	0.28402	T	-0.0852262	0.38860	T	-0.360198	0.38031	T	0.00183166179340333	0.00019	T	0.224178	0.02920	T	0.027119448	0.01859	0.042789508	0.05176	0.027119448	0.01859	0.042789508	0.05175	0.277	0.00264	T	.	.	0.064	0.01645	B	.	.	-0.156735	0.03319	0.578	0.46784723964666591	0.03774	0.02906	0.07704	N	AEFDBHCI	0.031334	0.03327	N	-1.83839477881042	0.00458	0.01970038	-1.87422729471738	0.00550	0.02439324	0.83672532226933	0.24792	0.59774	0.34471	0	0.615948	0.52940	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	1.6	-1.12	0.09306	-0.834000	0.04498	-3.987000	0.02410	-2.605000	0.00234	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4338:0.0:0.3179:0.2483	3.432	0.07004	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002028	0.005263	0.001359	0.008772	0.000000	0.000000	0.000000	0.000000	0.07143	295.63	40	chr2	232381776	.	A	G	295.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.774;DP=233;ExcessHet=0;FS=15.974;MLEAC=1;MLEAF=0.071;MQ=57.1;MQRankSum=-4.13;QD=5.91;ReadPosRankSum=1.35;SOR=1.631	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	6	0	1	0
chr2	232407892	232407892	C	T	exonic	ALPG	.	nonsynonymous SNV	ALPG:NM_031313:exon5:c.C523T:p.P175S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.832	0.135469373539	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	4.26	0.98092	H	-6.08	0.99517	D	-7.4	0.94758	D	0.817	0.81261	0.988	0.96983	D	0.988	0.99663	D	10	0.9902333	0.99518	D	0.135469	0.81793	D	0.832	0.94691	0.912	0.98269	0.968500111927	0.96816	0.926451466343881	0.92623	0.64558191495	0.58000	0.587133228779	0.51090	T	0.885489	0.97632	D	0.411561	0.90566	D	0.353403	0.90448	D	0.998854637145996	0.95376	D	0.925507	0.72634	D	0.836936	0.86390	0.6543339	0.79765	0.836936	0.86391	0.6543339	0.79766	-11.707	0.83395	D	.	.	0.738	0.74540	P	.	.	3.790737	0.54561	23.5	0.99768149990380728	0.85666	0.90623	0.51953	D	AEFDBHCI	0.723381	0.67301	D	0.424728551779136	0.62785	4.500304	0.13947990548909	0.46589	2.902309	0.999999203215006	0.74766	0.634777	0.41761	0	0.59043	0.45803	0	0.643519	0.47002	0	0.562822	0.20929	0	.	.	2.71	2.71	0.31092	5.649000	0.67611	5.670000	0.49252	0.412000	0.20661	1.000000	0.71638	1.000000	0.68203	0.045000	0.14751	0.0:1.0:0.0:0.0	13.810	0.62748	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	450.44	41	chr2	232407892	.	C	T	450.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.827;DP=297;ExcessHet=0;FS=2.78;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0.203;SOR=0.812	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	6	0	1	0
chr2	232524098	232524098	G	C	exonic	PRSS56	.	nonsynonymous SNV	PRSS56:NM_001195129:exon10:c.G1246C:p.G416R,PRSS56:NM_001369848:exon10:c.G1249C:p.G417R	Microphthalmia, isolated 6, Autosomal recessive	7	1514	1	0	0	1	0.000330142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.708032614631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1256235784	2.92e-06	2.736e-06	0	5.924e-06	2.921e-05	6.8e-07	4.6e-07	7.4e-07	2.1e-07	0	0	0	2.921e-05	0	0	2.795e-06	0	0	6.57e-06	6.567e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.128	0.14763	.	.	.	.	.	.	.	0.20186162	0.36284	T	0.708033	0.97621	D	.	.	.	.	0.683950608512	0.68125	0.5858252318567103	0.58512	.	.	0.855292677879	0.90411	D	0.009338	0.08507	T	0.0156502	0.53793	T	-0.215296	0.53188	T	.	.	.	0.690331	0.29972	T	0.038924344	0.05279	0.13622004	0.32593	0.038924344	0.05279	0.13622004	0.32592	-3.813	0.20999	T	.	.	0.148	0.34227	B	.;.	.;.	2.827702	0.37270	20.5	0.88832688899803758	0.18292	0.08148	0.14113	N	AEFDBCIJ	0.189209	0.31647	N	.	.	.	.	.	.	0.999708988499182	0.41986	0.199473	0.04044	0	0.166317	0.03975	0	0.215285	0.04585	0	0.109499	0.03221	0	.	.	3.81	1.95	0.25130	0.717000	0.25523	2.349000	0.32302	0.588000	0.31329	0.031000	0.20493	0.994000	0.32194	0.900000	0.43643	0.241:0.2167:0.5423:0.0	3.503	0.07242	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	609.63	17	chr2	232524098	.	G	C	609.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.347;DP=197;ExcessHet=0;FS=3.918;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=1.39;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,26:52:99:0|1:232524098_G_C:620,0,636:232524098	6	0	1	0
chr2	232540079	232540079	C	T	exonic	CHRNG	.	nonsynonymous SNV	CHRNG:NM_005199:exon2:c.C143T:p.S48L	Escobar syndrome, Autosomal recessive;Multiple pterygium syndrome, lethal type, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.0761875677774	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs370022034	1.437e-05	1.436e-05	1.497e-05	1.375e-05	2.519e-05	9.23e-06	7.84e-06	9.31e-06	7.61e-06	0	2.236e-05	0	2.519e-05	0	0	1.529e-05	0	2.319e-05	1.314e-05	1.313e-05	2.569e-05	0	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.084	0.41364	T	0.102	0.48080	T	0.188	0.29318	B	0.108	0.31289	B	0.267040	0.15202	N	0.573778	1	0.08975	N	2.025	0.55430	M	-1.29	0.79475	T	-3.46	0.67705	D	0.246	0.31027	-0.4884	0.69065	T	0.420	0.76570	T	10	0.16248438	0.30450	T	0.076188	0.72472	D	0.280	0.59740	.	.	0.744525733801	0.74222	.	.	0.185067540199	0.20798	0.423196196556	0.28277	T	0.70695	0.91610	D	-0.0176699	0.49184	T	-0.263158	0.48508	T	0.549267709255219	0.34450	D	0.633437	0.36032	T	0.1877465	0.40243	0.23949605	0.49300	0.1877465	0.40242	0.23949605	0.49299	-8.905	0.67083	D	.	.	0.114	0.22825	B	.;.	.;.	2.841559	0.37494	20.5	0.99110980638473556	0.52725	0.16554	0.19443	N	AEFDBCI	0.142427	0.26486	N	-0.476147288902862	0.22864	1.223852	-0.564149893225855	0.20431	1.100714	0.999982082025761	0.51787	0.608966	0.35542	0	0.550933	0.16991	0	0.769059	0.98459	0	0.542086	0.14980	0	.	.	4.01	3.1	0.34780	0.462000	0.21667	1.316000	0.25570	0.589000	0.31548	0.000000	0.06391	0.007000	0.19602	0.614000	0.31742	0.141:0.3509:0.5081:0.0	9.207	0.36459	917	0.20147	Neurotransmitter-gated ion-channel ligand-binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	107.44	38	chr2	232540079	.	C	T	107.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.49;ReadPosRankSum=-0.253;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr2	232770915	232770915	C	A	exonic	KCNJ13	.	nonsynonymous SNV	KCNJ13:NM_001172417:exon2:c.G208T:p.A70S,KCNJ13:NM_002242:exon2:c.G448T:p.A150S	Leber congenital amaurosis 16, Autosomal recessive;Snowflake vitreoretinal degeneration, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.113649403825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.384	0.11050	T	0.172	0.30241	T	0.999	0.77913	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.32	0.33002	L	1.57	0.96496	T	-1.61	0.43717	N	0.403	0.45803	-0.5805	0.65597	T	0.329	0.69716	T	10	0.83207226	0.82368	D	0.113649	0.79222	D	0.443	0.74588	0.762	0.89053	0.302481332339	0.29867	0.9569035063339736	0.95675	0.957253583666	0.72873	0.872203350067	0.92883	D	0.383815	0.81915	T	0.354427	0.86819	D	0.271333	0.86646	D	0.948097109794617	0.62821	D	0.79972	0.53201	T	0.4608921	0.64726	0.5823605	0.75789	0.4608921	0.64727	0.5823605	0.75789	-4.786	0.34428	T	0.2225926107531544	0.30037	0.334	0.55501	B	.;.;.	.;.;.	3.399787	0.47106	22.4	0.98736684071701697	0.45437	0.98528	0.83745	D	AEFBI	0.842162	0.75929	D	0.447833386514542	0.64080	4.654704	0.535680990199541	0.70407	5.500762	0.999999999998499	0.74766	0.428477	0.06694	0	0.37387	0.05907	3	0.547309	0.15389	0	0.714379	0.83352	0	.	.	5.6	5.6	0.84997	5.014000	0.63790	4.932000	0.46138	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.623	0.95661	900	0.24599	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	27	chr2	232770915	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=198;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1121	6	1	0	0
chr2	232847515	232847515	C	0	exonic	GIGYF2	.	.	.	.	20	155	23	3	25	54	0.0855457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1639.9	61	chr2	232847515	.	C	*	1639.9	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.723;DP=557;ExcessHet=0.0921;FS=1.191;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.37;ReadPosRankSum=1.97;SOR=0.829	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:57,0:96:99:.:.:1457,1638,3992:.	6	0	1	0
chr2	232847516	232847519	CACA	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	7814.23	78	chr2	232847516	.	CACA	*	7814.23	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.903;DP=635;ExcessHet=4.7409;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=0.439;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:97:99:.:.:2044,2177,4004:.	6	0	1	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1679.91	78	chr2	232847517	.	A	*	1679.91	.	AC=5;AF=0.357;AN=14;DP=634;ExcessHet=1.4958;FS=1.793;MLEAC=5;MLEAF=0.357;MQ=60;QD=3.26;SOR=0.857	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,53:96:99:.:.:5390,1722,1491:.	2	0	5	0
chr2	233204361	233204361	G	A	exonic	INPP5D	.	nonsynonymous SNV	INPP5D:NM_001017915:exon26:c.G3211A:p.G1071S,INPP5D:NM_005541:exon26:c.G3208A:p.G1070S	.	424	1080	15	3	0	21	0.00962861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.363	.	0.0009	0.00399361	0.0044	0.0004	0.0008	0.0001	0.0245	0.0021	0.0096	0.0119	0.0034993	541	154602	rs201835044	0.0023	0.0023	0.0020	0.0027	0.0121	0.0023	0.0022	0.0115	0.0112	0.0001	0.0010	0.0025	0.0001	0.0242	0.0056	0.0007	0.0024	0.0121	0.0032	0.0032	0.0018	0.0046	0.0141	0.0029	0.0029	0.0114	0.0104	0.0002	0	0.0005	0.0023	0.0006	0.0267	0.0068	0.0015	0.0019	0.0141	0.81	0.03036	T	0.649	0.07196	T	0.001	0.07471	B	0.005	0.11217	B	0.226060	0.03487	N	1.502010	1	0.08975	N	.	.	.	-3.91	0.96047	D	-0.16	0.09460	N	0.033	0.00882	-0.0794	0.80567	T	0.555	0.83724	D	9	0.005005479	0.00108	T	.	.	.	0.363	0.68319	.	.	0.64318162235	0.64023	0.21220313058028137	0.21136	0.568978505272	0.53093	0.376267433167	0.21727	T	0.189903	0.54427	T	-0.29231	0.09406	T	-0.182271	0.56313	T	0.00114685909032254	0.00011	T	.	.	.	0.022848252	0.00977	0.034002054	0.02391	0.022848252	0.00977	0.034002054	0.02390	-3.568	0.17395	T	.	.	0.068	0.03773	B	.;.;.	.;.;.	0.266732	0.06449	2.920	0.9359925467849376	0.23455	0.05062	0.10853	N	AEFDBCI	0.022055	0.01055	N	-1.31630893350496	0.03488	0.1558982	-1.37956244714507	0.03471	0.1619534	0.999948501950974	0.47345	0.631515	0.41029	0	0.697927	0.68747	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	3.54	-3.65	0.04212	-0.151000	0.10160	-0.481000	0.08919	-0.102000	0.15922	0.474000	0.26753	0.000000	0.08366	0.638000	0.32368	0.429:0.0:0.3988:0.1722	4.583	0.11660	825	0.40060	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.010101	0.005435	0.002924	0.000000	0.000000	0.000000	0.011364	0.07143	448.83	33	chr2	233204361	.	G	A	448.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.18;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.24;ReadPosRankSum=-0.86;SOR=0.689	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,117,1191	6	0	1	0
chr2	233462650	233462650	A	G	exonic	DGKD	.	nonsynonymous SNV	DGKD:NM_001377259:exon24:c.A2702G:p.N901S,DGKD:NM_003648:exon25:c.A2969G:p.N990S,DGKD:NM_152879:exon26:c.A3101G:p.N1034S	.	406	1104	11	1	0	13	0.00585322	.	.	.	3205201	DGKD-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.135	.	.	0.00319489	0.0030	0	0.0006	0	0	8.996e-05	0.0077	0.0210	0.0025614	396	154602	rs201384247	0.0012	0.0012	0.0006	0.0018	0.0189	0.0011	0.0011	0.0182	0.0178	2.987e-05	4.473e-05	0	0	0	0.0016	7.195e-06	0.0013	0.0189	0.0006	0.0006	0.0003	0.0009	0.0172	0.0005	0.0004	0.0142	0.0131	2.406e-05	0	0	0	0	0	0	0	0	0.0172	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.046294	0.23454	N	0.439500	0.981593	0.25027	N	-0.14	0.04484	N	-1.0	0.78199	T	0.16	0.05217	N	0.059	0.03069	-0.9630	0.38606	T	0.138	0.45545	T	10	0.004060954	0.00079	T	.	.	.	0.135	0.36572	0.256	0.19689	0.407223025684	0.40337	0.06614763545967561	0.06553	0.388573688024	0.40119	0.328598856926	0.14722	T	0.05319	0.29372	T	-0.380252	0.03105	T	-0.608135	0.12136	T	0.00399687234021469	0.00042	T	.	.	.	0.021439802	0.00746	0.025286177	0.00569	0.021439802	0.00746	0.025286177	0.00569	-1.101	0.01118	T	.	.	0.067	0.02927	B	.;.	.;.	0.526691	0.08954	5.735	0.20337870859659538	0.00727	0.59331	0.30886	D	AEFBCI	0.070745	0.14055	N	-1.04244424391411	0.07736	0.3604049	-0.910491983081611	0.11846	0.6059977	0.696190951250509	0.22644	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.08	-1.44	0.08391	0.137000	0.15816	-0.179000	0.11150	-0.054000	0.16847	0.736000	0.28985	0.000000	0.08366	0.676000	0.33425	0.4875:0.278:0.2345:0.0	4.868	0.12976	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.011364	0.07143	746.44	34	chr2	233462650	.	A	G	746.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.887;DP=282;ExcessHet=0;FS=3.965;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.54;ReadPosRankSum=0.299;SOR=1.12	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1233	6	0	1	0
chr2	233511743	233511743	C	T	exonic	USP40	.	nonsynonymous SNV	USP40:NM_001382298:exon18:c.G2219A:p.G740E,USP40:NM_001365479:exon20:c.G2492A:p.G831E,USP40:NM_001382295:exon20:c.G2492A:p.G831E,USP40:NM_001382296:exon20:c.G2492A:p.G831E,USP40:NM_001382297:exon20:c.G2492A:p.G831E,USP40:NM_001382299:exon20:c.G2336A:p.G779E,USP40:NM_001382300:exon20:c.G2492A:p.G831E,USP40:NM_001382301:exon20:c.G2492A:p.G831E,USP40:NM_018218:exon20:c.G2489A:p.G830E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.0148281787015	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1255976391	6.849e-07	2.052e-06	1.362e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	0.25255	T	0.122	0.92824	T	0.998	0.90584	D	0.962	0.97372	D	0.150093	0.02956	N	1.907940	0.983822	0.41596	D	2.74	0.80084	M	0.86	0.46777	T	-1.87	0.64593	N	0.786	0.92200	-0.8310	0.53237	T	0.344	0.70956	T	10	0.58366495	0.65989	D	0.014828	0.35199	T	0.277	0.59375	0.399	0.42753	0.791860417249	0.78993	0.6908155710629033	0.69021	0.29233043963	0.31646	0.623587012291	0.56236	T	0.029397	0.21072	T	0.212617	0.75077	D	0.0676328	0.74751	D	0.945433020591736	0.62263	D	0.810019	0.47234	T	0.16401173	0.36580	0.18307668	0.41274	0.16401173	0.36580	0.18307668	0.41273	-10.331	0.75870	D	.	.	0.747	0.74905	P	.;.;.;.	.;.;.;.	4.077672	0.60628	24.2	0.99758507439014965	0.84851	0.90139	0.51084	D	AEFDBI	0.452284	0.50590	N	0.629058587960734	0.75020	6.232705	0.585576046853223	0.73903	6.047534	0.999977921248042	0.50053	0.706298	0.61202	0	0.633656	0.55848	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	4.85	4.85	0.62375	4.583000	0.60675	4.738000	0.44591	0.549000	0.26987	0.967000	0.34061	1.000000	0.68203	0.960000	0.51673	0.0:1.0:0.0:0.0	15.284	0.73518	929	0.16858	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	497.49	33	chr2	233511743	.	C	T	497.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.424;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.43;ReadPosRankSum=0.882;SOR=0.648	GT:AD:DP:GQ:PL	0/1:41,26:67:99:508,0,889	6	0	1	0
chr2	233637282	233637282	C	T	exonic	UGT1A10	.	stopgain	UGT1A10:NM_019075:exon1:c.C760T:p.R254X	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.000798722	0.0005	0.0038	8.637e-05	0	0	5.997e-05	0	0.0007	0.0003881	60	154602	rs61748821	0.0002	0.0002	0.0002	0.0002	0.0044	0.0001	0.0001	0.0038	0.0036	0.0044	0.0002	0	2.519e-05	0	0.0003	1.079e-05	0.0002	0.0007	0.0010	0.0010	0.0011	0.0008	0.0032	0.0009	0.0008	0.0028	0.0026	0.0032	0	0.0005	0	0.0002	0	0	5.88e-05	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.751	0.75009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0195615	0.54322	T	0.254484	0.85832	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	7.027261	0.96051	35	0.996564195106312	0.77631	0.07703	0.13706	N	AEFGI	0.121528	0.23623	N	0.00934826952317588	0.42280	2.544461	-0.316884459816916	0.27553	1.529699	7.73690491685624E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.52	-0.726	0.10606	0.394000	0.20559	-20.000000	0.00162	0.599000	0.40250	0.013000	0.18845	0.000000	0.08366	0.330000	0.25202	0.6397:0.3602:0.0:0.0	12.880	0.57400	471	0.78036	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2633.44	35	chr2	233637282	.	C	T	2633.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.22;DP=427;ExcessHet=0;FS=3.971;MLEAC=1;MLEAF=0.071;MQ=59.94;MQRankSum=-1.02;QD=12.78;ReadPosRankSum=-0.768;SOR=0.468	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	6	0	1	0
chr2	233682328	233682329	CG	-	exonic	UGT1A7	.	frameshift deletion	UGT1A7:NM_019077:exon1:c.391_392del:p.R131Kfs*12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0024	0	0.0001	0	0.0004	0	0	3.84e-05	1	26028	rs771314938	1.369e-06	1.368e-06	1.362e-06	1.375e-06	2.52e-05	2.3e-07	9e-08	.	.	0	0	0	2.52e-05	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2952.4	143	chr2	233682327	.	CCG	C	2952.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.359;DP=1206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.33;MQRankSum=-2.859;QD=11.9;ReadPosRankSum=-0.559;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:268,0:268:99:.:.:0,120,1800:.	6	0	1	0
chr2	233682328	233682328	C	0	exonic	UGT1A7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	28997.8	147	chr2	233682328	.	C	*	28997.8	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.7;DP=1247;ExcessHet=0.4813;FS=0.585;MLEAC=1;MLEAF=0.071;MQ=59.48;MQRankSum=-2.618;QD=24.45;ReadPosRankSum=0.673;SOR=0.71	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:168,0:269:99:0|1:233682324_T_G:3631,4135,8692:233682324	6	0	1	0
chr2	233682329	233682329	G	0	exonic	UGT1A7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	28672.8	146	chr2	233682329	.	G	*	28672.8	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.25;DP=1239;ExcessHet=0.4813;FS=0.577;MLEAC=1;MLEAF=0.071;MQ=59.48;MQRankSum=-0.791;QD=24.24;ReadPosRankSum=0.674;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:177,0:274:99:0|1:233682324_T_G:3485,4018,11354:233682324	6	0	1	0
chr2	233682332	233682332	-	AC	exonic	UGT1A7	.	frameshift insertion	UGT1A7:NM_019077:exon1:c.395_396insAC:p.L133Hfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3079.4	150	chr2	233682332	.	A	AAC	3079.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.193;DP=1203;ExcessHet=0;FS=0.46;MLEAC=1;MLEAF=0.071;MQ=59.35;MQRankSum=-2.737;QD=12.22;ReadPosRankSum=-0.773;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:269,0:269:99:.:.:0,120,1800:.	6	0	1	0
chr2	233809144	233809144	C	T	exonic	MROH2A	.	nonsynonymous SNV	MROH2A:NM_001367507:exon22:c.C2314T:p.R772W	.	422	1095	5	0	0	5	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	.	.	0.00399361	0.0078	0	0	0.0062	0	0	0	0.0159	0.0010543	163	154602	rs76883884	0.0011	0.0011	0.0006	0.0016	0.0163	0.0011	0.0010	0.0156	0.0153	0.0003	5.605e-05	0.0001	0.0016	0	0.0007	0.0001	0.0012	0.0163	0.0006	0.0006	0.0003	0.0010	0.0141	0.0005	0.0005	0.0114	0.0104	4.816e-05	0	0	0	0.0037	0	0	7.351e-05	0.0009	0.0141	0.007	0.59928	D	0.002	0.79402	D	.	.	.	.	.	.	0.000730	0.42129	D	0.000000	0.529045	0.31960	D	.	.	.	5.06	0.01260	T	-3.08	0.63323	D	0.32	0.36043	-1.0113	0.26510	T	0.010	0.03537	T	8	0.0059551895	0.00134	T	.	.	.	0.121	0.33580	.	.	0.344483371355	0.34058	0.744572442843528	0.74403	2.46197207718E-4	0.00014	.	.	.	0.010023	0.09088	T	-0.449123	0.01143	T	-0.404285	0.32888	T	0.0431574080202563	0.04265	T	0.866613	0.58483	D	0.2818413	0.51224	0.187	0.41938	0.2818413	0.51224	0.187	0.41937	-4.981	0.36633	T	.	.	0.289	0.52102	B	.;.	.;.	4.112272	0.61406	24.3	0.99904921323087126	0.97576	0.43262	0.27059	N	AEFDBI	0.304810	0.41240	N	0.159889486143033	0.49280	3.130264	0.205842532344289	0.50170	3.21201	0.00531613413242797	0.10898	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.7	3.73	0.41982	0.279000	0.18532	0.158000	0.15372	0.580000	0.29708	0.999000	0.42656	0.957000	0.29195	0.998000	0.85391	0.4291:0.5709:0.0:0.0	10.393	0.43369	845	0.36510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	813.49	35	chr2	233809144	.	C	T	813.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.304;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-1.254;SOR=0.804	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1287	6	0	1	0
chr2	233842020	233842020	C	T	exonic	HJURP	.	nonsynonymous SNV	HJURP:NM_001282963:exon5:c.G505A:p.D169N,HJURP:NM_001282962:exon6:c.G598A:p.D200N,HJURP:NM_018410:exon8:c.G760A:p.D254N	.	433	1078	11	0	0	11	0.00507614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00565089478322	.	.	0.0006	0	0	0	0	0.0001	0.0022	0.0039	0.0004851	75	154602	rs202022630	0.0003	0.0003	0.0002	0.0004	0.0039	0.0003	0.0003	0.0035	0.0034	0	8.944e-05	0	0	0	0.0012	7.824e-05	0.0003	0.0039	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	9.695e-05	0.0005	0.0004	2.405e-05	0	6.536e-05	0	0.0002	0	0.0034	0.0002	0.0005	0.0012	0.203	0.26192	T	0.225	0.26467	T	0.335	0.33330	B	0.15	0.34161	B	0.133832	0.18537	N	0.498768	1	0.08975	N	1.185	0.30054	L	2.8	0.39990	T	-2.29	0.56144	N	0.174	0.26717	-1.0153	0.25240	T	0.078	0.31072	T	10	0.006063074	0.00136	T	0.005651	0.14621	T	0.022	0.04323	0.387	0.40788	0.254761474806	0.25079	0.1414699334388066	0.14069	0.106751890607	0.12062	0.339848071337	0.16416	T	0.025799	0.37562	T	-0.612443	0.00122	T	-0.653028	0.08744	T	0.030071836145738	0.02001	T	0.69773	0.31322	T	0.030974463	0.02854	0.039896492	0.04187	0.030974463	0.02853	0.039896492	0.04186	-4.47	0.30494	T	.	.	0.108	0.33778	B	.;.;.;.;.	.;.;.;.;.	1.364422	0.17740	13.34	0.9890937913749942	0.48345	0.13505	0.17894	N	AEFDBCI	0.062198	0.11941	N	-0.621831547377011	0.18289	0.9483346	-0.677775444672102	0.17516	0.9317817	0.999964235869194	0.48965	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.22	3.34	0.37357	0.183000	0.16729	0.834000	0.21977	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.058000	0.15825	0.0:0.8935:0.0:0.1065	8.253	0.30900	889	0.27310	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1600.53	59	chr2	233842020	.	C	T	1600.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.436;DP=508;ExcessHet=0;FS=1.256;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-0.639;SOR=0.57	GT:AD:DP:GQ:PL	0/0:112,0:112:99:0,120,1800	6	0	1	0
chr2	236331453	236331453	C	T	exonic	IQCA1	.	nonsynonymous SNV	IQCA1:NM_001270584:exon17:c.G2156A:p.R719Q,IQCA1:NM_001270585:exon18:c.G2303A:p.R768Q,IQCA1:NM_024726:exon18:c.G2279A:p.R760Q	.	.	.	.	.	.	.	.	.	.	.	2431725	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.078	0.0535387855953	.	.	3.312e-05	0.0001	0	0.0002	0	0	0	6.057e-05	3.23e-05	5	154602	rs754197069	2.737e-05	2.736e-05	2.45e-05	3.026e-05	0.0001	2.063e-05	1.816e-05	4.358e-05	2.767e-05	5.974e-05	0.0001	0	7.557e-05	3.745e-05	0	1.889e-05	4.969e-05	4.637e-05	5.916e-05	5.91e-05	2.57e-05	9.42e-05	0.0004	3.078e-05	2.211e-05	0.0002	0.0001	0	0	0.0004	0	0.0002	0	0	2.94e-05	0	0	0.428	0.09600	T	0.567	0.08900	T	0.328	0.33195	B	0.018	0.18489	B	0.175788	0.17242	N	0.552403	0.999999	0.08975	N	.	.	.	-3.24	0.93474	D	0.05	0.06369	N	0.128	0.19190	-0.4533	0.70291	T	0.590	0.85338	D	10	0.05054134	0.04802	T	0.053539	0.65506	D	0.078	0.22779	0.514	0.61307	0.449572021084	0.44577	0.20375946211220733	0.20292	0.0829618324035	0.09358	0.23202341795	0.02121	T	0.003186	0.02586	T	-0.26393	0.12444	T	-0.352465	0.38923	T	0.0202165432274342	0.00721	T	0.708829	0.31953	T	0.028765352	0.02265	0.0294249	0.01280	0.028765352	0.02265	0.0294249	0.01280	-6.339	0.51433	T	.	.	0.073	0.05017	B	.;.;.	.;.;.	1.110595	0.14959	11.47	0.8824139314295476	0.17824	0.07614	0.13623	N	AEFGBI	0.076580	0.15408	N	-0.951609518573968	0.09657	0.4579778	-0.975318069891955	0.10341	0.5202307	0.0178514683925212	0.12996	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.23	2.42	0.28720	0.205000	0.17154	-0.150000	0.11428	-0.224000	0.07868	0.053000	0.21524	0.000000	0.08366	0.036000	0.13842	0.3301:0.5156:0.0:0.1543	5.676	0.17023	994	0.00715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1103.49	33	chr2	236331453	.	C	T	1103.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.518;DP=243;ExcessHet=0;FS=3.353;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.54;ReadPosRankSum=0.107;SOR=0.617	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1222	6	0	1	0
chr2	236465644	236465644	G	A	exonic	IQCA1	.	nonsynonymous SNV	IQCA1:NM_001270584:exon6:c.C787T:p.R263W,IQCA1:NM_001270585:exon6:c.C808T:p.R270W,IQCA1:NM_024726:exon6:c.C787T:p.R263W	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.116702259778	0.0021	0.000798722	0.0018	0.0006	0.0012	0	0.0009	0.0026	0.0023	0.0007	0.0017464	270	154602	rs35814876	0.0022	0.0022	0.0023	0.0021	0.0024	0.0021	0.0021	0.0024	0.0023	0.0004	0.0019	0.0064	7.557e-05	0.0002	0.0016	0.0024	0.0022	0.0007	0.0015	0.0015	0.0016	0.0015	0.0024	0.0014	0.0013	0.0021	0.0020	0.0005	0	0.0014	0.0046	0	0.0002	0.0068	0.0024	0.0033	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.002106	0.37227	N	0.120895	1	0.08975	N	.	.	.	-3.86	0.95891	D	-6.66	0.92302	D	0.502	0.54234	0.762	0.93948	D	0.927	0.97581	D	10	0.02900678	0.01029	T	0.116702	0.79627	D	0.562	0.82061	.	.	0.686737365345	0.68405	0.7554852853329421	0.75495	0.120914663314	0.13617	0.388927042484	0.23519	T	0.267283	0.63930	T	-0.018273	0.49100	T	0.199186	0.83082	D	0.100542382343621	0.12417	T	0.870713	0.57574	D	0.31617102	0.54314	0.22931553	0.48000	0.31617102	0.54314	0.22931553	0.47999	-9.918	0.74460	D	.	.	0.171	0.46073	B	.;.;.	.;.;.	2.741475	0.35911	20.1	0.99708382538904816	0.81143	0.15366	0.18876	N	AEFBI	0.199535	0.32633	N	-0.0740527746711246	0.38534	2.258325	-0.35040378144507	0.26496	1.463906	1.47986361487263E-5	0.02871	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.37	1.31	0.20837	0.519000	0.22570	3.102000	0.36323	0.676000	0.76740	0.016000	0.19238	1.000000	0.68203	0.014000	0.10232	0.0:0.0:0.3887:0.6113	15.763	0.77873	988	0.01987	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1301.49	33	chr2	236465644	.	G	A	1301.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.576;DP=281;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=1.13;SOR=0.722	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1136	6	0	1	0
chr2	237346558	237346558	G	A	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057166:exon29:c.C5216T:p.S1739L,COL6A3:NM_057167:exon31:c.C6419T:p.S2140L,COL6A3:NM_004369:exon32:c.C7037T:p.S2346L	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1440730	Bethlem_myopathy_1A	MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.426	0.0816103432848	.	.	1.648e-05	9.61e-05	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs377168716	8.212e-06	8.209e-06	8.171e-06	8.253e-06	0.0002	4.38e-06	3.46e-06	3.81e-06	2.76e-06	2.989e-05	0	0	0	0	0.0002	8.097e-06	1.657e-05	0	1.972e-05	1.97e-05	1.285e-05	2.691e-05	7.244e-05	5.24e-06	2.45e-06	1.921e-05	1.032e-05	7.244e-05	0	0	0	0	0	0	0	0	0	0.009	0.58626	D	0.004	0.74150	D	0.986	0.77913	D	0.552	0.65913	P	0.021015	0.26919	N	0.175132	0.998831	0.45528	D	0.72	0.18721	N	-3.39	0.94210	D	-3.0	0.62343	D	0.387	0.45709	0.628	0.92271	D	0.799	0.93195	D	10	0.39258412	0.54998	T	0.08161	0.73720	D	0.426	0.73372	0.282	0.23801	0.909329193511	0.90842	0.40442166709223754	0.40358	0.13049011374	0.14724	0.57220774889	0.48989	T	0.307368	0.83198	T	0.032179	0.56014	T	-0.0100257	0.69683	D	0.62727302312851	0.37505	D	0.927007	0.73951	D	0.19752401	0.41621	0.19411986	0.43018	0.19752401	0.41621	0.19411986	0.43017	-3.242	0.13000	T	0.5211673070833667	0.59341	0.198	0.42067	B	.;.;.;.;.	.;.;.;.;.	5.327760	0.89412	30	0.99824619597150344	0.90677	0.96884	0.71464	D	AEFBI	0.768622	0.70413	D	0.438194525061792	0.63537	4.589278	0.487170576514943	0.67140	5.044178	0.99999999999994	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.23	5.23	0.72570	5.375000	0.65926	11.780000	0.96086	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.197	0.93679	955	0.09969	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	913.44	40	chr2	237346558	.	G	A	913.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.906;DP=275;ExcessHet=0;FS=0.855;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=-1.892;SOR=0.584	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr2	237371848	237371848	G	A	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057166:exon6:c.C2348T:p.S783L,COL6A3:NM_057164:exon7:c.C2948T:p.S983L,COL6A3:NM_057165:exon8:c.C3551T:p.S1184L,COL6A3:NM_057167:exon8:c.C3551T:p.S1184L,COL6A3:NM_004369:exon9:c.C4169T:p.S1390L	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	250688	not_provided|Collagen_6-related_myopathy|not_specified|Bethlem_myopathy_1A	MedGen:C3661900|MONDO:MONDO:0100225,MedGen:CN117976|MedGen:CN169374|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.382	0.131200322334	0.0008	0.00199681	0.0003	0.0031	8.643e-05	0.0001	0	6.001e-05	0	0.0001	0.0003363	52	154602	rs115548605	0.0001	0.0001	0.0001	0.0001	0.0019	9.809e-05	9.225e-05	0.0015	0.0014	0.0019	0.0004	0	2.519e-05	0	0.0002	4.317e-05	0.0005	2.319e-05	0.0009	0.0009	0.0010	0.0009	0.0025	0.0008	0.0008	0.0021	0.0020	0.0025	0	0.0018	0	0	0	0	7.53e-05	0.0024	0	0.399	0.37536	T	0.002	0.79402	D	0.692	0.61118	P	0.096	0.47859	B	0.033262	0.24919	N	0.288241	0.715659	0.33564	D	0.95	0.23787	L	-1.71	0.83157	D	-2.44	0.53420	N	0.296	0.35832	-0.4084	0.71761	T	0.342	0.70802	T	10	0.013390213	0.00284	T	0.131	0.81343	D	0.382	0.69946	.	.	0.827223003229	0.82559	0.5486702234678092	0.54793	0.345838924819	0.36485	0.459630191326	0.33259	T	0.277963	0.65059	T	-0.27725	0.10962	T	-0.175642	0.56926	T	0.0218702045093133	0.00894	T	0.891311	0.62583	D	0.15028758	0.34221	0.1035394	0.24844	0.12441626	0.29192	0.12028873	0.29030	-7.171	0.56897	T	0.16691354322788002	0.20781	0.103	0.25527	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.441485	0.31422	18.74	0.99438203535254588	0.64621	0.89787	0.50480	D	AEFDBI	0.557984	0.56739	D	-0.425543410467374	0.24577	1.327999	-0.296777983619614	0.28205	1.570694	0.999805992262281	0.43304	0.638212	0.43195	0	0.610034	0.51514	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.64	4.77	0.60425	1.340000	0.33501	6.497000	0.55774	-0.119000	0.14319	0.316000	0.25468	1.000000	0.68203	0.905000	0.44082	0.0747:0.0:0.7534:0.1718	9.674	0.39192	940	0.13648	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	1293.45	34	chr2	237371848	.	G	A	1293.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.535;DP=287;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.176;SOR=0.648	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1227	6	0	1	0
chr2	237372138	237372138	A	C	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057166:exon6:c.T2058G:p.D686E,COL6A3:NM_057164:exon7:c.T2658G:p.D886E,COL6A3:NM_057165:exon8:c.T3261G:p.D1087E,COL6A3:NM_057167:exon8:c.T3261G:p.D1087E,COL6A3:NM_004369:exon9:c.T3879G:p.D1293E	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	196249	Collagen_6-related_myopathy|Bethlem_myopathy_1A|not_specified|COL6A3-related_disorder	MONDO:MONDO:0100225,MedGen:CN117976|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.028	.	.	0.00439297	0.0020	0	0	0.0265	0.0006	0.0001	0	0.0002	0.0017917	277	154602	rs74425496	0.0014	0.0014	0.0015	0.0014	0.0491	0.0014	0.0013	0.0473	0.0465	0	4.472e-05	3.826e-05	0.0491	0.0003	0.0002	5.575e-05	0.0006	0.0001	0.0009	0.0009	0.0008	0.0011	0.0234	0.0008	0.0008	0.0200	0.0187	0	0	6.539e-05	0.0003	0.0234	0.0008	0	0.0001	0.0009	0.0002	0.409	0.13088	T	0.365	0.60972	T	0.808	0.45299	P	0.389	0.44119	B	0.000881	0.41231	N	0.105297	0.674056	0.30338	N	0.135	0.08676	N	1.2	0.37405	T	-0.7	0.21003	N	0.194	0.23125	-0.9096	0.46904	T	0.017	0.07092	T	10	0.004172057	0.00083	T	.	.	.	0.028	0.06331	0.388	0.40951	0.398872588132	0.39498	0.4363830400015776	0.43555	0.235026846186	0.26031	0.363456785679	0.19888	T	0.155471	0.49722	T	-0.617092	0.00115	T	-0.591513	0.13536	T	0.0403805451048511	0.03760	T	0.751225	0.39401	T	0.09658577	0.22752	0.036303595	0.03051	0.09476124	0.22285	0.04233072	0.05017	-2.375	0.04982	T	0.17041098780709374	0.21425	0.101	0.24733	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.714850	0.01286	0.068	0.82786037788934885	0.14374	0.06786	0.12809	N	AEFDBI	0.259305	0.37767	N	-1.62996737584999	0.01122	0.04874013	-1.76196722187599	0.00889	0.03973182	0.999999997147536	0.74766	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.73	-11.0	0.00133	-3.445000	0.00521	-12.290000	0.00536	-0.752000	0.03574	0.000000	0.06391	0.000000	0.08366	0.223000	0.22544	0.5957:0.2416:0.0825:0.0802	6.795	0.22907	940	0.13648	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	1871.45	34	chr2	237372138	.	A	C	1871.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.66;DP=341;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=0.459;SOR=0.643	GT:AD:DP:GQ:PL	0/1:76,72:148:99:1882,0,1931	6	0	1	0
chr2	237381337	237381337	G	C	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057164:exon3:c.C254G:p.T85S,COL6A3:NM_057166:exon3:c.C254G:p.T85S,COL6A3:NM_057165:exon4:c.C857G:p.T286S,COL6A3:NM_057167:exon4:c.C857G:p.T286S,COL6A3:NM_004369:exon5:c.C1475G:p.T492S	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1468	50	4	0	58	0.0193721	.	.	.	100808	Collagen_6-related_myopathy|not_specified|not_provided|Bethlem_myopathy_1A	MONDO:MONDO:0100225,MedGen:CN117976|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.115	.	0.0020	0.00359425	0.0075	0.0012	0.0022	0	0.0123	0.0088	0.0099	0.0116	0.007128	1102	154602	rs113897824	0.0059	0.0060	0.0056	0.0063	0.0140	0.0058	0.0058	0.0116	0.0113	0.0007	0.0020	0.0342	0	0.0100	0.0140	0.0050	0.0071	0.0122	0.0053	0.0053	0.0049	0.0057	0.0133	0.0050	0.0049	0.0107	0.0097	0.0008	0	0.0016	0.0429	0	0.0118	0.0204	0.0058	0.0043	0.0133	0.385	0.35349	T	0.142	0.36233	T	0.542	0.37927	P	0.279	0.40265	B	0.015240	0.28305	N	0.245514	0.801403	0.34516	D	0.935	0.23595	L	-1.68	0.82897	D	-0.89	0.31981	N	0.197	0.25130	-0.5242	0.67759	T	0.304	0.67464	T	10	0.0041661263	0.00082	T	.	.	.	0.115	0.32236	0.356	0.35734	0.582638149471	0.57935	0.28273255772480255	0.28186	0.244890568272	0.27008	0.279157876968	0.07375	T	0.199684	0.55704	T	-0.400147	0.02310	T	-0.337172	0.40666	T	0.00407187472035348	0.00043	T	0.612239	0.30590	T	0.09517698	0.22393	0.07853483	0.17598	0.079272114	0.18101	0.076297514	0.16884	-3.885	0.30283	T	.	.	0.097	0.18122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.459944	0.18824	13.94	0.95807155714322945	0.27873	0.42820	0.26962	N	AEFBI	0.260702	0.37880	N	-0.69545567415975	0.16151	0.820323	-0.645389732327595	0.18333	0.9788823	0.999450295830064	0.39788	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.5	3.64	0.40864	0.728000	0.25682	4.383000	0.43188	0.676000	0.76740	0.007000	0.17678	1.000000	0.68203	0.934000	0.47231	0.0:0.2658:0.5963:0.1378	10.912	0.46327	931	0.16308	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.009567	0.000000	0.004076	0.017544	0.000000	0.008621	0.021341	0.018939	0.1429	4170.24	33	chr2	237381337	.	G	C	4170.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.278;DP=385;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=18.21;ReadPosRankSum=0.388;SOR=0.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,71:130:99:0|1:237381337_G_C:2752,0,2231:237381337	5	0	2	0
chr2	237381341	237381341	C	G	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057164:exon3:c.G250C:p.D84H,COL6A3:NM_057166:exon3:c.G250C:p.D84H,COL6A3:NM_057165:exon4:c.G853C:p.D285H,COL6A3:NM_057167:exon4:c.G853C:p.D285H,COL6A3:NM_004369:exon5:c.G1471C:p.D491H	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1468	50	4	0	58	0.0193721	.	.	.	100807	not_provided|not_specified|Bethlem_myopathy_1A|Collagen_6-related_myopathy	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MONDO:MONDO:0100225,MedGen:CN117976	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.521	.	0.0018	0.00359425	0.0075	0.0012	0.0022	0	0.0123	0.0088	0.0099	0.0116	0.007128	1102	154602	rs112010940	0.0059	0.0060	0.0056	0.0063	0.0140	0.0058	0.0058	0.0116	0.0113	0.0006	0.0020	0.0342	0	0.0100	0.0140	0.0050	0.0071	0.0122	0.0053	0.0053	0.0049	0.0057	0.0133	0.0050	0.0049	0.0107	0.0097	0.0008	0	0.0016	0.0429	0	0.0118	0.0204	0.0058	0.0043	0.0133	0.004	0.65419	D	0.002	0.92824	D	0.503	0.37206	P	0.464	0.46572	P	0.000032	0.55875	D	0.000000	0.998002	0.58761	D	1.85	0.49092	L	-1.8	0.83893	D	-2.34	0.80595	N	0.408	0.49420	-0.2252	0.77013	T	0.445	0.78136	T	10	0.004274875	0.00086	T	.	.	.	0.521	0.79643	.	.	0.784802411588	0.78281	0.6835498080276483	0.68293	0.447034461529	0.44568	0.377826780081	0.21948	T	0.278705	0.76907	T	-0.214431	0.18760	T	-0.0704044	0.65597	T	0.0245525690017757	0.01215	T	0.836716	0.57527	T	0.35974628	0.57816	0.34155858	0.59894	0.38446113	0.59638	0.3216856	0.58114	-8.526	0.64641	D	.	.	0.380	0.62162	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.134648	0.42367	21.5	0.98249625934338536	0.39558	0.68644	0.33880	D	AEFBI	0.566125	0.57223	D	-0.210755514957118	0.32693	1.846463	-0.18538953988746	0.32072	1.821115	0.999997813254138	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.31	4.4	0.52402	3.131000	0.50210	1.849000	0.29243	0.599000	0.40250	0.769000	0.29345	0.941000	0.28781	0.945000	0.48827	0.0:0.7252:0.2748:0.0	14.505	0.67332	931	0.16308	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.009567	0.000000	0.004076	0.017544	0.000000	0.008621	0.021341	0.018939	0.1429	4229.24	33	chr2	237381341	.	C	G	4229.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.54;DP=389;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=18.31;ReadPosRankSum=-0.273;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,70:129:99:0|1:237381337_G_C:2731,0,2224:237381337	5	0	2	0
chr2	238100441	238100441	G	A	exonic	ESPNL	.	nonsynonymous SNV	ESPNL:NM_194312:exon1:c.G22A:p.V8M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.254279230099	0.0002	0.00159744	0.0012	0	0.0002	0.0084	0	0.0009	0	0	0.0006856	106	154602	rs199778762	0.0005	0.0006	0.0006	0.0005	0.0035	0.0005	0.0005	0.0030	0.0028	0.0002	0.0002	7.775e-05	0.0035	0.0002	0	0.0005	0.0004	1.187e-05	0.0004	0.0004	0.0005	0.0004	0.0060	0.0003	0.0003	0.0043	0.0038	4.808e-05	0	6.531e-05	0	0.0060	0	0	0.0004	0.0005	0.0002	0.093	0.35918	T	0.108	0.37589	T	0.95	0.53885	P	0.537	0.48765	P	0.601957	0.05651	N	1.252820	1	0.08975	N	0.77	0.19370	N	-0.03	0.66294	T	-0.18	0.09796	N	0.211	0.25622	-0.8894	0.48986	T	0.230	0.59571	T	10	0.009266138	0.00209	T	0.254279	0.89245	D	0.152	0.39956	.	.	0.207176502487	0.20327	0.12860113584043095	0.12785	0.400748112602	0.41077	0.576363325119	0.49573	T	0.003375	0.02778	T	-0.411835	0.01933	T	-0.360623	0.37981	T	0.0461144128637618	0.04804	T	0.70043	0.31009	T	0.04038383	0.05755	0.06141446	0.11856	0.04038383	0.05754	0.06141446	0.11856	-5.049	0.39516	T	.	.	0.120	0.25978	B	.;.	.;.	0.609450	0.09781	6.545	0.99530322873607435	0.69839	0.06472	0.12481	N	AEFDBCI	0.129499	0.24770	N	-0.464657518218084	0.23246	1.24695	-0.638969724126605	0.18496	0.9882983	0.999969477834378	0.48965	0.403107	0.06075	0	0.547309	0.14657	0	0.514364	0.09456	0	0.562822	0.20929	0	.	.	4.37	1.04	0.19220	-1.020000	0.03729	-2.813000	0.03335	-0.117000	0.14459	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0966:0.1221:0.4514:0.3299	3.297	0.06559	970	0.06235	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	388.49	33	chr2	238100441	.	G	A	388.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.54;DP=208;ExcessHet=0;FS=2.628;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.27;ReadPosRankSum=-0.69;SOR=1.206	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1002	6	0	1	0
chr2	238239895	238239895	G	T	exonic	HES6	.	nonsynonymous SNV	HES6:NM_001142853:exon1:c.C11A:p.P4H,HES6:NM_001282434:exon1:c.C11A:p.P4H,HES6:NM_018645:exon1:c.C11A:p.P4H	.	436	1083	3	0	0	3	0.00138313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.984786447887	.	.	0.0002	0	0	0	0	0.0002	0	0.0011	2.59e-05	4	154602	rs772580239	2.593e-05	2.873e-05	2.829e-05	2.333e-05	0.0006	1.798e-05	1.548e-05	0.0001	4.731e-05	0	0	0	0	0	0.0006	2.618e-05	4.695e-05	0	5.961e-05	5.91e-05	3.885e-05	8.134e-05	0.0002	3.1e-05	2.226e-05	4.792e-05	3.357e-05	0	0	6.588e-05	0	0	0	0	0.0001	0	0.0002	0.493	0.78490	T	0.049	0.69154	D	0.34	0.64070	B	0.051	0.57829	B	0.259460	0.03699	U	2.460460	1	0.08975	N	0.805	0.20218	L	2.31	0.73739	T	-0.94	0.82141	N	0.184	0.19995	-0.7461	0.58138	T	0.301	0.67176	T	10	0.14072233	0.26745	T	0.984786	0.99928	D	0.086	0.25016	.	.	0.584180466826	0.58090	0.15051144382603626	0.14973	0.572525695287	0.53339	0.796118199825	0.81372	T	0.054577	0.29763	T	-0.187747	0.22589	T	-0.303862	0.44316	T	0.0989087151762528	0.12237	T	0.622038	0.24588	T	0.16119692	0.36112	0.06540163	0.13249	0.16119692	0.36111	0.06540163	0.13249	-7.239	0.57709	T	.	.	0.114	0.44758	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.274746	0.16738	12.73	0.96371517950641061	0.29587	0.62532	0.31810	D	AEFGBHCI	0.094077	0.19027	N	-0.878413666408233	0.11357	0.5476482	-1.05381155871104	0.08627	0.4251329	0.999999999999977	0.74766	0.72623	0.87236	0	0.552344	0.17405	0	0.594344	0.31042	0	0.554799	0.18163	0	.	.	2.52	-3.9	0.03904	0.749000	0.25985	2.275000	0.31858	0.451000	0.21329	0.001000	0.13787	0.921000	0.28324	0.025000	0.12405	0.1698:0.1614:0.5058:0.163	1.965	0.03187	878	0.29785	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	90.83	17	chr2	238239895	.	G	T	90.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.593;DP=123;ExcessHet=0;FS=7.782;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=1.18;SOR=0.027	GT:AD:DP:GQ:PL	0/0:28,0:28:66:0,66,990	6	0	1	0
chr2	238344536	238344536	A	C	exonic	TRAF3IP1	.	nonsynonymous SNV	TRAF3IP1:NM_015650:exon9:c.A1199C:p.D400A	Senior-Loken syndrome 9, Autosomal recessive	413	1099	9	1	0	11	0.00497963	.	.	.	719743	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.104	0.00382257895674	0.0028	0.00119808	0.0030	0.0006	0.0010	0	0.0070	0.0043	0.0066	0.0003	0.0028913	447	154602	rs61756349	0.0036	0.0036	0.0036	0.0036	0.0042	0.0035	0.0035	0.0041	0.0041	0.0003	0.0012	0.0008	2.519e-05	0.0041	0.0035	0.0042	0.0028	0.0009	0.0024	0.0024	0.0023	0.0025	0.0037	0.0022	0.0021	0.0033	0.0032	0.0006	0	0.0009	0.0006	0	0.0062	0	0.0037	0.0028	0.0002	0.276	0.15717	T	0.226	0.25438	T	0.98	0.59353	D	0.828	0.59497	P	0.239577	0.15741	N	0.599254	0.999995	0.58761	D	2.14	0.59869	M	2.28	0.17271	T	-1.5	0.36586	N	0.402	0.44283	-1.0761	0.08124	T	0.042	0.17994	T	10	0.0049200654	0.00105	T	0.003823	0.08930	T	0.104	0.29647	.	.	0.315903272564	0.31202	0.31806859148454864	0.31719	0.634336529021	0.57292	0.343479037285	0.16958	T	0.013043	0.11355	T	-0.471335	0.00834	T	-0.449961	0.27701	T	0.0691967816084844	0.08538	T	0.577142	0.20757	T	0.16476518	0.36705	0.14741908	0.34888	0.14649165	0.33533	0.1620036	0.37652	-3.832	0.21283	T	0.5861345801440024	0.65293	0.084	0.09917	B	.	.	2.273425	0.29059	18.00	0.99154816843676019	0.53931	0.47449	0.27985	N	AEFBI	0.056495	0.10447	N	-0.00109099224484539	0.41805	2.507222	-0.0732888557271627	0.36500	2.124869	0.179529492724046	0.17851	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.01	2.67	0.30756	0.702000	0.25307	1.980000	0.30029	0.756000	0.94297	0.979000	0.35152	0.701000	0.26233	0.995000	0.73285	0.7909:0.0:0.2091:0.0	5.734	0.17327	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.005051	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.07143	1163.46	44	chr2	238344536	.	A	C	1163.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.971;DP=294;ExcessHet=0;FS=4.81;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-0.726;SOR=0.378	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1117	6	0	1	0
chr2	239126586	239126586	C	G	exonic	HDAC4	.	nonsynonymous SNV	HDAC4:NM_001378414:exon12:c.G1403C:p.G468A,HDAC4:NM_001378415:exon12:c.G1403C:p.G468A,HDAC4:NM_001378416:exon12:c.G1388C:p.G463A,HDAC4:NM_001378417:exon12:c.G1388C:p.G463A,HDAC4:NM_006037:exon12:c.G1388C:p.G463A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	0.381633485041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.124	0.35455	T	0.999	0.77913	D	0.906	0.64351	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.64	0.41913	L	-1.77	0.83660	D	-2.47	0.53898	N	0.718	0.72031	0.482	0.90299	D	0.705	0.89842	D	9	0.7351661	0.74569	D	0.381633	0.92985	D	0.375	0.69358	0.181	0.08877	0.793086707147	0.79116	0.5257602760905123	0.52500	1.31525297928	0.83316	0.854794979095	0.90337	D	0.783757	0.94315	D	0.117263	0.66096	D	-0.0693364	0.65673	T	0.958943903446198	0.65404	D	0.913709	0.70062	D	0.25831446	0.48880	0.23835535	0.49156	0.25831446	0.48880	0.23835535	0.49155	-11.682	0.83268	D	0.3409500458550025	0.43868	0.424	0.66325	A	.;.	.;.	3.499246	0.48948	22.7	0.99817704688043041	0.90061	0.99557	0.97415	D	AEFDBI	0.876000	0.79974	D	0.655536927811408	0.76727	6.540252	0.602995662804947	0.75159	6.261177	0.999999999947537	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.508809	0.08732	0	.	.	4.46	4.46	0.53567	7.468000	0.79953	7.480000	0.59248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.589000	0.31115	0.0:1.0:0.0:0.0	17.503	0.87632	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1095.53	36	chr2	239126586	.	C	G	1095.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.96;DP=274;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.639;SOR=0.735	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1066	6	0	1	0
chr2	240526332	240526332	G	A	exonic	ANKMY1	.	nonsynonymous SNV	ANKMY1:NM_001354024:exon5:c.C800T:p.A267V,ANKMY1:NM_016552:exon5:c.C800T:p.A267V,ANKMY1:NM_001282771:exon6:c.C1067T:p.A356V,ANKMY1:NM_001354023:exon7:c.C1067T:p.A356V	.	425	1091	6	0	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.0481911448047	7.7e-05	0.00119808	0.0005	0	0.0002	0	0	1.504e-05	0	0.0036	0.0004528	70	154602	rs146538328	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	0	2.236e-05	0	0	0	0.0017	1.169e-05	0.0004	0.0032	0.0001	0.0001	6.423e-05	0.0002	0.0039	9.14e-05	7.697e-05	0.0026	0.0021	0	0	0	0	0	0	0	2.94e-05	0	0.0039	0.008	0.59928	D	0.005	0.72224	D	1.0	0.90584	D	0.993	0.81110	D	0.014141	0.28625	N	0.270263	0.983065	0.81001	D	1.535	0.38868	L	0.41	0.57100	T	-3.02	0.62630	D	0.716	0.71854	-0.4919	0.68941	T	0.280	0.65149	T	10	0.029551715	0.01081	T	0.048191	0.63264	D	0.376	0.69443	.	.	0.830592188486	0.82898	0.7933446821346415	0.79287	.	.	0.382183521986	0.22566	T	0.184568	0.53727	T	-0.155332	0.27479	T	-0.000203994	0.70323	D	0.158192966544936	0.17737	T	0.794321	0.43637	T	0.22838111	0.45556	0.24916992	0.50482	0.22838111	0.45556	0.24916992	0.50481	-10.182	0.74994	D	.	.	0.722	0.73880	P	.;.	.;.	4.566056	0.72000	25.8	0.99927270304684113	0.99163	0.96839	0.71218	D	AEFBI	0.759120	0.69755	D	0.558589043123895	0.70606	5.526368	0.485649469237907	0.67040	5.030906	0.999834276737658	0.43792	0.460665	0.09802	0	0.577304	0.33150	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.37	4.37	0.51830	7.042000	0.76286	10.979000	0.84589	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.483000	0.28633	0.0:0.0:1.0:0.0	14.769	0.69283	994	0.00715	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	2513.44	38	chr2	240526332	.	G	A	2513.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.344;DP=431;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=0.549;SOR=0.7	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,101,1403	6	0	1	0
chr2	240577851	240577851	A	C	exonic	RNPEPL1	.	nonsynonymous SNV	RNPEPL1:NM_018226:exon11:c.A2137C:p.S713R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0211907387823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.087	0.40747	T	.	.	.	.	.	.	0.884645	0.07258	U	1.072320	1	0.08975	N	.	.	.	0.92	0.44461	T	-0.66	0.19085	N	.	.	-1.0324	0.19681	T	0.060	0.25163	T	10	0.07163364	0.10587	T	0.021191	0.43920	T	0.072	0.21020	.	.	0.162503812791	0.15892	0.2071671183611874	0.20632	0.701633187537	0.61175	0.491912513971	0.37704	T	.	.	.	-0.221784	0.17750	T	-0.556354	0.16720	T	0.0720196031800388	0.08932	T	0.79972	0.44511	T	0.054634977	0.10510	0.06604402	0.13472	0.054634977	0.10509	0.06604402	0.13472	-4.705	0.33465	T	.	.	0.216	0.44527	B	.;.	.;.	-0.030076	0.04080	0.954	0.98293124971993151	0.39973	0.18243	0.20179	N	AEFBCI	0.119067	0.23256	N	-0.986111109871577	0.08900	0.4190826	-1.02241604811884	0.09293	0.4615088	0.52619409453635	0.21138	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.11	-4.24	0.03519	-0.022000	0.12424	-1.795000	0.04712	-0.113000	0.14837	0.174000	0.23986	0.000000	0.08366	0.922000	0.45779	0.4526:0.0:0.5474:0.0	9.653	0.39072	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	128.27	19	chr2	240577851	.	A	C	128.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.17;DP=168;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.75;ReadPosRankSum=0.658;SOR=0.368	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	1
chr2	240757364	240757364	C	T	exonic	KIF1A	.	nonsynonymous SNV	KIF1A:NM_001379632:exon26:c.G2762A:p.R921Q,KIF1A:NM_001379633:exon26:c.G2786A:p.R929Q,KIF1A:NM_001379642:exon26:c.G2786A:p.R929Q,KIF1A:NM_001379645:exon26:c.G2786A:p.R929Q,KIF1A:NM_001244008:exon27:c.G2813A:p.R938Q,KIF1A:NM_001379631:exon27:c.G2888A:p.R963Q	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	367142	not_specified|Inborn_genetic_diseases|KIF1A-related_disorder|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.026	0.0267602580679	.	0.000599042	0.0028	0	0	0	0.0006	0.0070	0	0.0011	0.0006145	95	154602	rs192102667	0.0009	0.0009	0.0009	0.0009	0.0118	0.0009	0.0008	0.0095	0.0087	0.0008	0.0011	0.0160	0	0.0001	0.0118	0.0005	0.0021	0.0007	0.0009	0.0009	0.0009	0.0008	0.0008	0.0007	0.0007	0.0005	0.0004	0.0003	0	0.0008	0.0167	0	9.414e-05	0.0170	0.0005	0.0038	0.0004	0.277	0.15665	T	0.646	0.06836	T	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	1	0.81001	D	.	.	.	-0.52	0.71779	T	-0.21	0.10308	N	0.128	0.12198	-0.9954	0.31191	T	0.137	0.45356	T	8	0.0037359595	0.00069	T	0.02676	0.49639	D	0.026	0.05648	.	.	0.285775778912	0.28195	0.4801543005852717	0.47935	0.500603223362	0.48474	0.427563339472	0.28876	T	.	.	.	-0.449962	0.01130	T	-0.475464	0.24929	T	0.00877313456651127	0.00108	T	0.79872	0.45098	T	.	.	.	.	.	.	.	.	-4.308	0.28288	T	.	.	0.062	0.02065	B	.;.;.;.	.;.;.;.	2.956052	0.39350	20.9	0.95261931439250225	0.26531	0.43678	0.27151	N	AEFBHCI	0.093038	0.18830	N	-0.531128711227893	0.21079	1.116061	-0.397935687822421	0.25058	1.375822	0.918969962207698	0.26588	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.562822	0.20929	0	.	.	4.86	3.05	0.34272	0.754000	0.26056	1.079000	0.23874	-0.172000	0.11096	1.000000	0.71638	0.992000	0.31684	0.985000	0.61073	0.0:0.6757:0.0:0.3243	7.806	0.28366	988	0.01987	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	106.44	33	chr2	240757364	.	C	T	106.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.022;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=-1.292;SOR=0.799	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1247	6	0	1	0
chr2	240869010	240869010	A	C	exonic	AGXT	.	nonsynonymous SNV	AGXT:NM_000030:exon1:c.A145C:p.M49L	Hyperoxaluria, primary, type 1, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	542045	Primary_hyperoxaluria,_type_I|not_specified|not_provided	MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.314	0.0865107457001	.	0.00199681	0.0004	0	0	0.0056	0	3.081e-05	0.0022	6.087e-05	0.0004592	71	154602	rs74205173	0.0001	0.0001	0.0001	0.0002	0.0042	0.0001	0.0001	0.0037	0.0035	0	4.504e-05	0	0.0042	0	0.0002	1.8e-05	0.0004	0.0002	0.0003	0.0003	0.0003	0.0003	0.0080	0.0002	0.0002	0.0059	0.0052	2.748e-05	0	6.621e-05	0	0.0080	0	0	5.889e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.012	0.16012	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	0.14	0.08730	N	-3.07	0.92508	D	-0.77	0.21429	N	0.187	0.20395	-0.5519	0.66715	T	0.373	0.73205	T	10	0.008694053	0.00197	T	0.086511	0.74751	D	0.314	0.63588	0.707	0.84327	0.633221168995	0.63021	0.7699165858146282	0.76940	0.031904406079	0.03313	0.420078903437	0.27847	T	0.374541	0.73832	T	-0.27959	0.10712	T	-0.166426	0.57769	T	0.0172202937535903	0.00465	T	0.586341	0.21412	T	0.54840595	0.69867	0.33782086	0.59567	0.54840595	0.69868	0.33782086	0.59566	-3.01	0.10289	T	0.10987284786682286	0.09223	0.115	0.22897	B	.	.	1.323175	0.17275	13.07	0.49863223087304998	0.04284	0.82394	0.41628	D	AEFDBCI	0.794242	0.72200	D	-0.936225864443296	0.10003	0.476044	-0.840310118443605	0.13521	0.701833	0.999994564678696	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.42	3.23	0.36150	1.478000	0.35050	3.649000	0.39371	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.057000	0.15750	0.8428:0.1572:0.0:0.0	10.963	0.46611	982	0.03397	Aminotransferase class V domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	1533.44	33	chr2	240869010	.	A	C	1533.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.693;DP=548;ExcessHet=0;FS=0.647;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-1.024;SOR=0.757	GT:AD:DP:GQ:PL	0/1:72,62:134:99:1544,0,1884	6	0	1	0
chr2	240933245	240933245	C	T	exonic	CROCC2	.	nonsynonymous SNV	CROCC2:NM_001351305:exon10:c.C1366T:p.R456W	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs572265784	7.016e-05	6.704e-05	7.345e-05	6.678e-05	0.0008	5.89e-05	5.412e-05	0.0005	0.0005	3.168e-05	0	0	0.0008	0	0	3.894e-05	0.0005	0	0.0001	0.0001	0.0001	0.0001	0.0021	8.664e-05	7.256e-05	0.0012	0.0009	0.0002	0	6.542e-05	0	0.0021	0	0	1.47e-05	0	0	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.11626	-1.0017	0.29430	T	0.064	0.26527	T	5	0.018404782	0.00400	T	.	.	.	.	.	.	.	0.18274738541	0.17906	0.06723897616985833	0.06661	.	.	.	.	.	0.059109	0.31027	T	-0.622388	0.00106	T	-0.665978	0.07868	T	0.033722191806411	0.02591	T	.	.	.	0.06949182	0.15229	0.049716365	0.07653	0.06949182	0.15229	0.049716365	0.07652	-4.367	0.29106	T	.	.	0.088	0.11797	B	.	.	0.690768	0.10591	7.299	0.99261894354848823	0.57255	0.00442	0.02154	N	AEFDBI	0.068558	0.13530	N	-0.867795682212237	0.11615	0.561466	-1.1182151648758	0.07352	0.3572938	0.449796785464424	0.20529	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	0.624	-0.599	0.11062	-2.461000	0.01075	0.236000	0.16249	-1.143000	0.01438	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3911:0.3396:0.2692	2.292	0.03888	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	195.53	32	chr2	240933245	.	C	T	195.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.43;DP=211;ExcessHet=0;FS=1.556;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.11;ReadPosRankSum=0.966;SOR=0.721	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1122	6	0	1	0
chr2	241096064	241096078	GTCATCCTCATCATT	-	exonic	MTERF4	.	nonframeshift deletion	MTERF4:NM_001330179:exon3:c.502_516del:p.N168_D172del,MTERF4:NM_182501:exon4:c.1066_1080del:p.N356_D360del	.	417	1099	5	1	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0159	.	0.0011	0.0035	8.648e-05	0.0001	0	0.0002	0.0011	0.0047	0.0008344	129	154602	rs745932546	0.0006	0.0006	0.0005	0.0007	0.0053	0.0005	0.0005	0.0049	0.0048	0.0040	0.0002	0	5.04e-05	3.744e-05	0.0014	0.0002	0.0008	0.0053	0.0012	0.0012	0.0012	0.0012	0.0060	0.0011	0.0010	0.0043	0.0037	0.0035	0	0.0003	0	0	0	0	0.0001	0.0014	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1209.4	34	chr2	241096063	.	CGTCATCCTCATCATT	C	1209.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.172;DP=271;ExcessHet=0;FS=0.939;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.05;ReadPosRankSum=-0.692;SOR=0.527	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr2	241112239	241112239	C	T	splicing	PASK	NM_001252122:exon15:c.3428+1G>A;NM_015148:exon15:c.3533+1G>A;NM_001252119:exon15:c.3554+1G>A;NM_001252120:exon16:c.3533+1G>A	.	.	.	427	1087	8	0	0	8	0.00366636	1.0000	0.944	.	246919	Chronic_kidney_disease|not_specified	Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0015	0.000998403	0.0012	0.0003	0.0011	0	0.0003	0.0020	0.0011	6.061e-05	0.0012807	198	154602	rs140030739	0.0018	0.0018	0.0018	0.0018	0.0022	0.0017	0.0017	0.0021	0.0021	0.0004	0.0009	0.0013	0	0.0003	0.0021	0.0022	0.0015	4.64e-05	0.0014	0.0014	0.0017	0.0011	0.0024	0.0013	0.0012	0.0021	0.0020	0.0005	0.0110	0.0005	0.0017	0	0.0002	0	0.0024	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0995079	0.64239	D	0.364302	0.90864	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.609739	0.73095	25.9	0.99536339569681398	0.70212	0.93575	0.58592	D	AEFDBCI	.	.	.	1.16609010089012	0.99177	21.06445	1.01643747914686	0.98921	19.88587	1.0	0.98316	0.12189	0.03102	0	0.194	0.04241	0	0.175069	0.04249	0	0.092715	0.02821	0	0.987336	0.95773	5.69	5.69	0.88346	7.373000	0.78878	7.489000	0.59345	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.601000	0.31412	0.0:1.0:0.0:0.0	19.807	0.96531	988	0.01987	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	272.63	26	chr2	241112239	.	C	T	272.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.265;DP=180;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=1.24;SOR=0.495	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,117,1163	6	0	1	0
chr2	241572401	241572401	C	A	exonic	BOK	.	nonsynonymous SNV	BOK:NM_032515:exon5:c.C618A:p.F206L	.	423	1097	1	0	1	2	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00317874902144	.	.	.	.	.	.	.	.	.	.	.	.	.	rs747958315	2.072e-06	4.104e-06	1.374e-06	2.777e-06	0.0003	5.5e-07	1.5e-07	6.101e-05	2.525e-05	0	0	0	0	2.326e-05	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.12837	T	0.317	0.19304	T	0.006	0.13644	B	0.005	0.11217	B	0.000647	0.42656	N	0.207000	0.566295	0.31215	N	0.975	0.24501	L	1.14	0.38397	T	-0.48	0.15379	N	0.1	0.08227	-1.0568	0.12569	T	0.051	0.21883	T	10	0.06435943	0.08523	T	0.003179	0.06966	T	0.023	0.04649	0.472	0.54699	0.0920862733494	0.08535	0.4714608530941022	0.47065	0.144869896826	0.16365	0.776305198669	0.78371	T	0.188049	0.54184	T	-0.226254	0.17148	T	-0.562774	0.16117	T	0.103051841259003	0.12689	T	0.820318	0.47908	T	0.049258467	0.08717	0.053561147	0.09047	0.049258467	0.08716	0.053561147	0.09046	-2.306	0.04588	T	.	.	0.514	0.65194	A	.	.	1.031933	0.14123	10.69	0.97235039196282813	0.32969	0.06208	0.12194	N	AEFDBCI	0.151095	0.27551	N	-1.08109916463146	0.06991	0.3234863	-1.0613630477442	0.08472	0.4167007	0.94288097566447	0.27543	0.67177	0.52595	0	0.588015	0.36545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.07	-0.824	0.10266	-0.755000	0.04887	-1.545000	0.05202	-0.180000	0.10397	0.004000	0.16614	0.000000	0.08366	0.932000	0.46971	0.0:0.3598:0.0:0.6402	10.062	0.41450	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	544.53	32	chr2	241572401	.	C	A	544.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.437;DP=196;ExcessHet=0;FS=1.287;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=0.142;SOR=0.389	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1161	6	0	1	0
chr3	3845629	3845629	C	T	exonic	LRRN1	.	nonsynonymous SNV	LRRN1:NM_020873:exon2:c.C988T:p.R330C,LRRN1:NM_001324188:exon3:c.C988T:p.R330C,LRRN1:NM_001324189:exon3:c.C988T:p.R330C	.	437	1054	30	1	0	32	0.0149533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	.	0.0013	0.00179712	0.0025	9.656e-05	0.0013	0	0.0002	0.0014	0.0011	0.0115	0.0022251	344	154602	rs146290783	0.0016	0.0016	0.0012	0.0021	0.0132	0.0016	0.0015	0.0118	0.0116	0.0004	0.0015	0.0071	2.52e-05	1.872e-05	0.0132	0.0007	0.0025	0.0124	0.0011	0.0011	0.0009	0.0012	0.0098	0.0009	0.0009	0.0075	0.0068	4.817e-05	0	0.0012	0.0078	0	0	0.0068	0.0009	0.0028	0.0098	0.002	0.72154	D	0.002	0.79402	D	0.999	0.77913	D	0.719	0.54822	P	0.000016	0.62929	D	0.142753	1	0.81001	D	3	0.85872	M	0.36	0.57880	T	-1.86	0.43524	N	0.599	0.61764	-0.2780	0.75595	T	0.329	0.69674	T	10	0.0065250695	0.00148	T	.	.	.	0.323	0.64522	.	.	0.303871581278	0.30001	0.6332127385484002	0.63255	0.630048219252	0.57008	0.684255063534	0.64880	T	0.051945	0.29022	T	-0.211766	0.19130	T	-0.0659324	0.65915	T	0.0829268058137253	0.10357	T	0.963804	0.86607	D	0.18769358	0.40235	0.16573796	0.38325	0.18769358	0.40235	0.16573796	0.38324	-8.874	0.66882	D	.	.	0.251	0.48521	B	.	.	4.966557	0.82161	27.7	0.99936106130912272	0.99621	0.96121	0.67629	D	AEFBI	0.844361	0.76133	D	0.750227868868542	0.82919	7.883445	0.733361059890418	0.84910	8.425782	0.999999313784303	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	4.782000	0.62089	4.920000	0.46033	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.592	0.95514	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.005435	0.011696	0.000000	0.000000	0.006098	0.015152	0.07143	2838.44	60	chr3	3845629	.	C	T	2838.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.06;DP=611;ExcessHet=0;FS=1.638;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=0.653;SOR=0.839	GT:AD:DP:GQ:PL	0/0:117,0:117:99:0,120,1800	6	0	1	0
chr3	3845835	3845835	C	A	exonic	LRRN1	.	nonsynonymous SNV	LRRN1:NM_020873:exon2:c.C1194A:p.F398L,LRRN1:NM_001324188:exon3:c.C1194A:p.F398L,LRRN1:NM_001324189:exon3:c.C1194A:p.F398L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.0108466300923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.005128	0.33071	N	0.369809	1	0.81001	D	0.175	0.09039	N	0.63	0.53088	T	0.62	0.02442	N	0.143	0.14338	-1.0469	0.15274	T	0.048	0.20315	T	10	0.087144434	0.14883	T	0.010847	0.27853	T	0.049	0.13647	0.295	0.25881	0.165150595986	0.16160	0.45043792302724356	0.44961	0.216955615391	0.24212	0.638128042221	0.58298	T	0.01945	0.15495	T	-0.210893	0.19253	T	-0.54071	0.18227	T	0.0890955254435539	0.11109	T	0.792121	0.43364	T	0.08043101	0.18428	0.06990063	0.14787	0.08043101	0.18427	0.06990063	0.14787	-2.049	0.03371	T	.	.	0.455	0.62430	A	.	.	1.535178	0.19691	14.39	0.86479938267518486	0.16564	0.86737	0.46082	D	AEFDBI	0.554916	0.56557	D	-0.628112951755608	0.18103	0.9371998	-0.408168031519712	0.24757	1.357529	0.176232048384493	0.17808	0.631515	0.41029	0	0.573888	0.26702	0	0.697927	0.64325	0	0.564101	0.26826	0	.	.	5.65	2.41	0.28644	0.133000	0.15736	0.616000	0.20081	0.599000	0.40250	0.960000	0.33603	0.998000	0.33993	0.991000	0.66497	0.0:0.6884:0.1306:0.1809	8.422	0.31869	940	0.13648	Cysteine-rich flanking region, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	38.44	60	chr3	3845835	.	C	A	38.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.981;DP=441;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.49;ReadPosRankSum=0;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:117,0:117:99:.:.:0,120,1800:.	6	0	1	0
chr3	4813216	4813216	T	G	exonic	ITPR1	.	nonsynonymous SNV	ITPR1:NM_002222:exon53:c.T7354G:p.S2452A,ITPR1:NM_001099952:exon54:c.T7399G:p.S2467A,ITPR1:NM_001168272:exon56:c.T7498G:p.S2500A,ITPR1:NM_001378452:exon57:c.T7543G:p.S2515A	Gillespie syndrome;Spinocerebellar ataxia 15, Autosomal dominant;Spinocerebellar ataxia 29, congenital nonprogressive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3012875	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.218	0.0747147055553	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1042481772	2.056e-06	2.052e-06	1.363e-06	2.755e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	9.007e-07	0	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.667	0.08710	T	0.76	0.04772	T	0.025	0.19245	B	0.055	0.25995	B	0.020878	0.26948	N	0.382752	0.96516	0.25950	N	-0.105	0.04674	N	-2.72	0.97292	D	-0.16	0.28703	N	0.215	0.27910	-0.2456	0.76478	T	0.668	0.88504	D	10	0.05167252	0.05084	T	0.074715	0.72109	D	0.218	0.51265	0.232	0.16005	0.696260500471	0.69364	0.48026094347615556	0.47946	0.721800194197	0.62248	0.357034742832	0.18953	T	0.634984	0.88735	D	0.0698575	0.60833	D	-0.137431	0.60341	T	0.091284766793251	0.11369	T	0.626337	0.24237	T	0.0288755	0.02293	0.039334215	0.04004	0.0288755	0.02293	0.039334215	0.04003	-2.74	0.07706	T	0.08193581192038485	0.04281	0.069	0.03093	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.367398	0.30374	18.42	0.87424838804571359	0.17218	0.38613	0.26028	N	AEFDBCI	0.092152	0.18660	N	-0.753051844651921	0.14550	0.7257569	-0.579997023590807	0.20015	1.076466	0.999939154740957	0.46732	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.02	3.85	0.43556	0.552000	0.23083	1.208000	0.24886	0.665000	0.62972	0.235000	0.24695	0.934000	0.28616	0.999000	0.91618	0.0:0.0876:0.0:0.9124	8.678	0.33353	922	0.19044	.;.;.;.;.;Ion transport domain;.;Ion transport domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1231.46	33	chr3	4813216	.	T	G	1231.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.034;DP=285;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-0.049;SOR=0.683	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1261	6	0	1	0
chr3	5174387	5174387	A	G	exonic	ARL8B	.	nonsynonymous SNV	ARL8B:NM_018184:exon6:c.A484G:p.I162V	.	443	1078	1	0	0	1	0.000463607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0251351480504	0.0022	0.000998403	0.0022	0.0006	0.0006	0	0.0073	0.0030	0.0022	0.0002	0.0019987	309	154602	rs142243427	0.0021	0.0022	0.0022	0.0021	0.0020	0.0021	0.0021	0.0019	0.0019	0.0004	0.0009	0.0142	0	0.0062	0.0002	0.0020	0.0026	0.0003	0.0020	0.0020	0.0020	0.0021	0.0025	0.0019	0.0018	0.0022	0.0021	0.0004	0	0.0018	0.0092	0	0.0052	0.0034	0.0025	0.0028	0.0002	0.11	0.29158	T	0.248	0.23845	T	0.019	0.17989	B	0.03	0.21741	B	0.000001	0.84330	D	0.093672	1	0.81001	D	1.245	0.31408	L	-1.62	0.82347	D	-0.84	0.22944	N	0.281	0.31814	-0.3655	0.73098	T	0.430	0.77238	T	10	0.010258049	0.00229	T	0.025135	0.48119	D	0.324	0.64624	.	.	0.654981827081	0.65210	0.27296280749308427	0.27209	1.08025085994	0.77118	0.699909448624	0.67131	T	0.068089	0.33367	T	-0.255613	0.13418	T	-0.143938	0.59776	T	0.00883217843760953	0.00109	T	0.946505	0.79528	D	0.14571132	0.33389	0.13792628	0.32954	0.14571132	0.33388	0.13792628	0.32953	-8.735	0.65975	D	.	.	0.085	0.10304	B	.;.	.;.	3.289812	0.45108	22.1	0.99609050726428772	0.74694	0.98403	0.82420	D	AEGBI	0.770557	0.70547	D	0.0319325132814576	0.43312	2.626606	0.222869065826874	0.51117	3.297226	0.99999999995872	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.608884	0.39905	0	0.727631	0.95156	0	.	.	5.56	5.56	0.83678	5.007000	0.63738	11.079000	0.85716	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.714	0.77417	830	0.39242	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1008.44	36	chr3	5174387	.	A	G	1008.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.681;DP=278;ExcessHet=0;FS=3.985;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.024;SOR=1.179	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	6	0	1	0
chr3	5203090	5203090	T	-	exonic	EDEM1	.	frameshift deletion	EDEM1:NM_014674:exon5:c.983delT:p.V328Gfs*6	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2384.4	34	chr3	5203089	.	GT	G	2384.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.57;DP=341;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=-0.289;SOR=0.72	GT:AD:DP:GQ:PL	0/1:88,73:161:99:2395,0,3042	6	0	1	0
chr3	8620014	8620014	G	A	exonic	SSUH2	.	nonsynonymous SNV	SSUH2:NM_001256748:exon12:c.C982T:p.R328C,SSUH2:NM_001256749:exon12:c.C763T:p.R255C,SSUH2:NM_015931:exon12:c.C916T:p.R306C	.	428	1093	1	0	0	1	0.000457247	0.0002	0.082	.	3608505	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.315	.	.	.	7.487e-05	0	8.693e-05	0	0	4.522e-05	0	0.0003	5.82e-05	9	154602	rs761227472	2.874e-05	2.873e-05	3.132e-05	2.613e-05	0.0002	2.152e-05	1.908e-05	9.798e-05	7.843e-05	0	6.714e-05	0	2.519e-05	0	0	1.979e-05	3.313e-05	0.0002	6.572e-06	6.566e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.056	0.22806	B	0.029	0.21540	B	0.073762	0.21325	N	0.463132	0.999967	0.81001	D	2.97	0.85306	M	0.49	0.55775	T	-7.36	0.94647	D	0.469	0.69387	-0.6192	0.64022	T	0.281	0.65299	T	10	0.6840343	0.71452	D	0.090098	0.75453	D	0.315	0.63694	0.868	0.96212	0.509228182784	0.50563	0.7114505573178961	0.71087	0.367296540295	0.38284	0.623392343521	0.56209	T	0.199083	0.55625	T	-0.101117	0.36240	T	-0.0908754	0.64096	T	0.707885646207555	0.41097	D	0.89781	0.64352	D	0.38437918	0.59631	0.30690724	0.56714	0.38437918	0.59632	0.30690724	0.56713	-9.912	0.73383	D	0.8327396831098915	0.90316	0.254	0.55459	B	.;.;.	.;.;.	4.392353	0.67793	25.1	0.99687742865307438	0.79708	0.62416	0.31775	D	AEFBCI	0.477252	0.52032	N	-0.166902488474347	0.34517	1.971202	-0.18693581796891	0.32016	1.817353	0.999915422731738	0.45857	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.21	3.41	0.38145	1.549000	0.35819	6.313000	0.55432	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.688000	0.33778	0.0904:0.0:0.7377:0.1719	6.860	0.23241	939	0.14249	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1144.53	35	chr3	8620014	.	G	A	1144.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.501;DP=264;ExcessHet=0;FS=4.28;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=1.26;SOR=1.224	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1225	6	0	1	0
chr3	9869955	9869955	C	T	exonic	CIDEC	.	nonsynonymous SNV	CIDEC:NM_001321144:exon4:c.G259A:p.V87M,CIDEC:NM_001199552:exon5:c.G481A:p.V161M,CIDEC:NM_001199623:exon5:c.G520A:p.V174M,CIDEC:NM_001321143:exon5:c.G259A:p.V87M,CIDEC:NM_001378491:exon5:c.G481A:p.V161M,CIDEC:NM_022094:exon5:c.G481A:p.V161M,CIDEC:NM_001199551:exon6:c.G511A:p.V171M,CIDEC:NM_001321142:exon6:c.G481A:p.V161M	.	420	1095	7	0	0	7	0.00318616	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.449	0.0519863664054	0.0005	0.000599042	0.0007	0.0002	0.0007	0	0	0.0009	0.0011	0.0005	0.0006274	97	154602	rs145323356	0.0005	0.0005	0.0005	0.0005	0.0066	0.0005	0.0005	0.0049	0.0044	0.0001	0.0005	0.0017	2.519e-05	7.488e-05	0.0066	0.0005	0.0005	0.0005	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0004	0.0004	0.0001	0	0.0002	0.0020	0	0	0.0068	0.0006	0.0024	0.0008	0.048	0.40573	D	0.027	0.55341	D	0.704	0.41950	P	0.14	0.33554	B	0.000375	0.45194	N	0.192334	0.997911	0.81001	D	1.88	0.49984	L	-1.7	0.83072	D	-2.53	0.54864	D	0.393	0.47022	-0.2122	0.77356	T	0.433	0.77413	T	10	0.056804836	0.06426	T	0.051986	0.64886	D	0.449	0.75004	.	.	0.767807737041	0.76568	0.650586606132137	0.64994	0.0295269217594	0.03033	0.483669102192	0.36562	T	.	.	.	-0.247415	0.14418	T	-0.203585	0.54306	T	0.0369163517767589	0.03140	T	0.907509	0.67676	D	0.10306345	0.24356	0.1731746	0.39625	0.10306345	0.24356	0.1731746	0.39624	-4.249	0.28720	T	.	.	0.134	0.28920	B	.;.;.;.;.;.	.;.;.;.;.;.	2.248000	0.28711	17.89	0.99427481670525042	0.64081	0.70759	0.34724	D	AEFDBI	0.397368	0.47347	N	0.0250667969793737	0.42998	2.601385	0.0131443987542392	0.40323	2.404714	0.999973654909798	0.50053	0.581397	0.33459	0	0.588015	0.36545	0	0.565031	0.19037	0	0.613276	0.41899	0	.	.	5.89	4.11	0.47350	1.367000	0.33809	0.120000	0.14904	-0.176000	0.10722	0.672000	0.28366	0.003000	0.18671	0.416000	0.27139	0.0:0.8908:0.0:0.1092	11.980	0.52405	557	0.71576	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005035	0.005051	0.006793	0.008772	0.000000	0.008621	0.000000	0.003788	0.07143	1730.44	33	chr3	9869955	.	C	T	1730.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.67;DP=306;ExcessHet=0;FS=2.359;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=0.436;SOR=0.969	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1220	6	0	1	0
chr3	9870465	9870465	G	T	exonic	CIDEC	.	nonsynonymous SNV	CIDEC:NM_001199551:exon4:c.C217A:p.P73T	.	421	1082	19	0	0	19	0.00870362	.	.	.	2819881	not_provided|CIDEC-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.022	.	.	0.00399361	0.0076	0.0057	0.0072	0	0.0053	0.0151	0.0118	0.0010	0.004075	630	154602	rs140125102	0.0071	0.0071	0.0073	0.0070	0.0209	0.0070	0.0070	0.0178	0.0166	0.0021	0.0081	0.0194	0	0.0026	0.0209	0.0077	0.0073	0.0018	0.0062	0.0062	0.0067	0.0057	0.0117	0.0059	0.0057	0.0103	0.0098	0.0019	0	0.0117	0.0147	0	0.0025	0.0102	0.0084	0.0128	0.0021	0.54	0.06802	T	0.119	0.36101	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.05	0.39990	T	-0.25	0.11008	N	0.063	0.03502	-1.0193	0.23943	T	0.028	0.12014	T	7	0.0033667386	0.00059	T	.	.	.	0.022	0.04323	.	.	0.148003135375	0.14442	.	.	0.0171875367071	0.01662	0.260267823935	0.04922	T	.	.	.	-0.685109	0.00045	T	-0.7465	0.03623	T	0.00474907694010272	0.00051	T	0.367163	0.08573	T	.	.	.	.	.	.	.	.	-4.135	0.25804	T	.	.	0.071	0.03925	B	.;.	.;.	0.079154	0.04858	1.450	0.35179929911945079	0.02194	0.05519	0.11409	N	AEFBCI	0.040758	0.06105	N	-0.959853081957445	0.09473	0.4484746	-1.07774049293137	0.08140	0.3989001	0.982155718217304	0.30360	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.57	0.743	0.17496	-0.242000	0.08945	-0.205000	0.10907	0.575000	0.29119	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.3121:0.0:0.6879:0.0	4.715	0.12269	557	0.71576	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.012131	0.000000	0.020718	0.017730	0.000000	0.000000	0.006250	0.007752	0.07143	259.83	30	chr3	9870465	.	G	T	259.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.944;DP=190;ExcessHet=0;FS=1.574;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.87;ReadPosRankSum=0.745;SOR=0.361	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1220	6	0	1	0
chr3	10046601	10046601	T	G	exonic	FANCD2	.	nonsynonymous SNV	FANCD2:NM_001018115:exon15:c.T1156G:p.F386V,FANCD2:NM_001319984:exon15:c.T1156G:p.F386V,FANCD2:NM_001374253:exon15:c.T1156G:p.F386V,FANCD2:NM_001374254:exon15:c.T1156G:p.F386V,FANCD2:NM_033084:exon15:c.T1156G:p.F386V	Fanconi anemia, complementation group D2, Autosomal recessive	3	1514	5	0	0	5	0.00164853	.	.	.	239033	Fanconi_anemia|Ovarian_cancer|not_specified	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.048	.	.	.	0.0026	0.0004	0.0154	0.0022	0.0009	0.0016	0.0011	0.0002	0.0026649	412	154602	rs149125003	0.0006	0.0031	0.0006	0.0006	0.0058	0.0006	0.0005	0.0052	0.0050	0.0002	0.0058	0.0008	0.0013	0.0016	0.0002	0.0003	0.0010	8.129e-05	0.0047	0.0087	0.0046	0.0049	0.0202	0.0044	0.0043	0.0183	0.0176	0.0009	0.0033	0.0202	0.0047	0.0033	0.0052	0	0.0040	0.0053	0.0021	0.038	0.43393	D	0.056	0.46632	T	0.161	0.28372	B	0.106	0.31143	B	0.015442	0.28243	N	0.420852	0.995808	0.23196	N	1.795	0.47270	L	0.76	0.49919	T	-1.13	0.29114	N	0.448	0.48596	-1.0721	0.08957	T	0.027	0.11663	T	10	0.008343905	0.00189	T	.	.	.	0.048	0.13305	.	.	0.305410167561	0.30157	0.2524177736352058	0.25155	0.224801822649	0.25013	0.334772408009	0.15654	T	0.099961	0.40529	T	-0.123309	0.32585	T	-0.414902	0.31661	T	0.0281046908348799	0.01703	T	0.869813	0.57430	D	0.26443958	0.49511	0.09300031	0.21946	0.20685284	0.42873	0.10772509	0.25937	-5.198	0.38921	T	0.3961625374956277	0.48867	0.128	0.27313	B	.;.;.	.;.;.	1.401704	0.18160	13.58	0.90917655920035034	0.20166	0.11495	0.16672	N	AEFDGBI	0.094597	0.19124	N	-1.01724391030129	0.08246	0.3859466	-1.00807792792738	0.09607	0.4789305	0.00270519892485332	0.09647	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.73	-1.83	0.07410	-0.021000	0.12445	0.088000	0.14478	-0.243000	0.07376	0.006000	0.17386	0.073000	0.22253	0.960000	0.51673	0.1221:0.4836:0.0:0.3943	6.237	0.19977	397	0.82902	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.08333	158.27	36	chr3	10046601	.	T	G	158.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.256;DP=333;ExcessHet=0;FS=1.496;MLEAC=1;MLEAF=0.083;MQ=55.98;MQRankSum=-2.642;QD=4.4;ReadPosRankSum=-2.155;SOR=0.35	GT:AD:DP:GQ:PL	0/0:64,0:64:99:0,120,1800	5	0	1	1
chr3	12532671	12532671	C	G	exonic	TSEN2	.	nonsynonymous SNV	TSEN2:NM_001145393:exon11:c.C1270G:p.L424V,TSEN2:NM_001321279:exon11:c.C1270G:p.L424V,TSEN2:NM_001145392:exon12:c.C1348G:p.L450V,TSEN2:NM_001321277:exon12:c.C1348G:p.L450V,TSEN2:NM_025265:exon12:c.C1348G:p.L450V,TSEN2:NM_001145394:exon13:c.C1171G:p.L391V	Pontocerebellar hypoplasia type 2B, Autosomal recessive	0	1521	0	1	0	2	0.00065703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0167460232367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	0.11370	T	0.536	0.09931	T	0.014	0.19245	B	0.022	0.29270	B	0.000444	0.44317	D	0.145306	0.830134	0.28770	N	0.55	0.14455	N	0.51	0.55608	T	-0.77	0.21429	N	0.053	0.02658	-1.0657	0.10386	T	0.097	0.36471	T	10	0.09504944	0.16946	T	0.016746	0.38152	T	0.054	0.15330	0.442	0.49811	0.420447328233	0.41661	0.15547452464661254	0.15468	0.0306381666785	0.03166	0.424253821373	0.28422	T	0.037499	0.24497	T	-0.172057	0.24923	T	-0.484924	0.23924	T	0.280861854553223	0.24208	T	0.720328	0.40598	T	0.086208366	0.20028	0.057371598	0.10416	0.086208366	0.20028	0.057371598	0.10416	-5.976	0.52915	T	0.15944480406103287	0.19387	0.071	0.11220	B	.;.;.;.	.;.;.;.	0.583175	0.09517	6.293	0.91886411662857725	0.21204	0.43828	0.27184	N	AEFBI	0.068830	0.13595	N	-0.487978115232713	0.22474	1.200295	-0.305831589522356	0.27910	1.552123	0.425329896096953	0.20325	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.15	4.26	0.49832	0.167000	0.16419	0.499000	0.18978	-0.217000	0.08171	0.944000	0.32806	0.996000	0.32793	0.994000	0.71098	0.0:0.6494:0.3506:0.0	12.517	0.55383	718	0.55760	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	891.63	34	chr3	12532671	.	C	G	891.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.478;DP=246;ExcessHet=0;FS=0.884;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-1.341;SOR=0.522	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1059	6	0	1	0
chr3	14496539	14496539	C	T	exonic	GRIP2	.	nonsynonymous SNV	GRIP2:NM_001080423:exon22:c.G2701A:p.V901M	.	437	1080	5	0	0	5	0.00230947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.000399361	0.0008	0.0003	0.0006	0	0.0003	0.0011	0	0.0006	0.0007309	113	154602	rs201046591	0.0007	0.0007	0.0007	0.0008	0.0049	0.0007	0.0007	0.0035	0.0030	0.0002	0.0013	0.0010	0	0.0002	0.0049	0.0007	0.0008	0.0008	0.0008	0.0008	0.0008	0.0009	0.0029	0.0007	0.0007	0.0022	0.0020	0.0002	0	0.0029	0.0009	0	0.0003	0	0.0009	0.0014	0.0004	.	.	.	0.172	0.34359	T	0.027	0.19556	B	0.018	0.18489	B	.	.	.	.	.	.	.	1.825	0.47900	L	.	.	.	.	.	.	0.371	0.41261	.	.	.	.	.	.	.	0.036270857	0.01917	T	.	.	.	.	.	.	.	0.573410036937	0.57009	0.334443893817282	0.33357	.	.	0.571992695332	0.48960	T	0.043249	0.26443	T	-0.340108	0.05381	T	-0.296696	0.45071	T	.	.	.	0.769523	0.39899	T	0.08214944	0.18909	0.29626632	0.55658	0.08214944	0.18909	0.29626632	0.55657	-4.573	0.31831	T	.	.	0.111	0.26700	B	.;.;.	.;.;.	2.506360	0.32366	19.02	0.79540607819623776	0.12788	0.54832	0.29713	D	AEFBI	.	.	.	.	.	.	.	.	.	0.827701835280447	0.24637	0.162113	0.03585	0	0.060609	0.00678	0	0.175069	0.04249	0	0.058706	0.01089	0	0.100064	0.22221	4.89	2.99	0.33673	2.170000	0.42071	1.418000	0.26339	0.549000	0.26987	0.963000	0.33788	0.807000	0.27003	0.672000	0.33309	0.0:0.7216:0.2784:0.0	14.611	0.68112	905	0.23532	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.005051	0.008152	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	381.46	40	chr3	14496539	.	C	T	381.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.37;DP=248;ExcessHet=0;FS=3.133;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=-0.908;SOR=1.292	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	6	0	1	0
chr3	14507675	14507675	G	A	exonic	GRIP2	.	nonsynonymous SNV	GRIP2:NM_001080423:exon18:c.C2104T:p.R702C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.148e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs763855418	3.831e-05	3.831e-05	2.042e-05	5.639e-05	0.0005	3.026e-05	2.719e-05	0.0004	0.0003	2.987e-05	0	0	2.519e-05	5.618e-05	0	5.396e-06	3.313e-05	0.0005	3.287e-05	3.284e-05	2.57e-05	4.037e-05	0.0008	1.261e-05	7.98e-06	0.0003	0.0002	2.415e-05	0	0	0	0	0	0	0	0	0.0008	.	.	.	0.001	0.83351	D	0.995	0.67487	D	0.953	0.69275	D	.	.	.	.	.	.	.	2.425	0.70256	M	.	.	.	.	.	.	0.928	0.95491	.	.	.	.	.	.	.	0.7932593	0.78846	D	.	.	.	.	.	.	.	0.693507107271	0.69087	0.7893257021237662	0.78884	.	.	0.899095416069	0.96340	D	0.116983	0.43672	T	0.31487	0.84104	D	0.550772	0.95627	D	.	.	.	0.987701	0.95793	D	0.30330634	0.53200	0.2990545	0.55939	0.30330634	0.53200	0.2990545	0.55939	-10.109	0.74562	D	.	.	0.152	0.37083	B	.;.;.	.;.;.	5.719083	0.93214	33	0.91688772083336545	0.20981	0.85969	0.45167	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999999999990776	0.74766	0.208312	0.04119	0	0.068659	0.01829	0	0.216804	0.04610	0	0.079188	0.02158	0	0.965156	0.68300	5.03	5.03	0.67015	4.651000	0.61143	9.821000	0.81804	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.384	0.90403	900	0.24599	PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	737.63	33	chr3	14507675	.	G	A	737.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.21;DP=229;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.009;SOR=0.555	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr3	14821206	14821206	A	C	exonic	FGD5	.	nonsynonymous SNV	FGD5:NM_001320276:exon1:c.A2135C:p.K712T,FGD5:NM_152536:exon1:c.A2135C:p.K712T	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	0.0577696567345	0.0003	.	0.0002	0	8.643e-05	0	0	0.0003	0	0	0.0001552	24	154602	rs373381188	0.0001	0.0001	0.0001	0.0002	3.508e-05	0.0001	0.0001	2.626e-05	2.305e-05	0	0	0.0058	0	0	0	3.508e-05	0.0004	1.159e-05	0.0002	0.0002	0.0002	0.0001	8.82e-05	0.0001	0.0001	3.762e-05	2.575e-05	0	0	0	0.0066	0	0	0	8.82e-05	0	0	0.001	0.78490	D	0.086	0.40909	T	0.968	0.56581	D	0.635	0.51908	P	0.000009	0.62929	D	0.000000	0.983178	0.39981	D	2.175	0.60977	M	-1.17	0.78199	T	-3.65	0.69950	D	0.383	0.47857	-0.0598	0.80997	T	0.453	0.78621	T	10	0.01464349	0.00308	T	0.05777	0.67084	D	0.417	0.72705	.	.	0.735673980653	0.73331	0.3578038235167019	0.35694	0.540742379595	0.51266	0.537477493286	0.44090	T	0.106314	0.41755	T	-0.0254857	0.48069	T	-0.0940889	0.63851	T	0.164849621063491	0.18223	T	0.884412	0.60756	D	0.38372657	0.59585	0.2907124	0.55095	0.38372657	0.59585	0.2907124	0.55094	-10.684	0.77896	D	.	.	0.416	0.67348	A	.;.;.	.;.;.	3.516879	0.49280	22.8	0.99799714113583782	0.88461	0.96000	0.67081	D	AEFDBI	0.689722	0.65029	D	0.453618086984083	0.64407	4.694763	0.461216678438459	0.65443	4.824138	0.970139604662155	0.29184	0.706548	0.73137	0	0.59043	0.45803	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.03	5.03	0.67015	5.574000	0.67124	7.001000	0.57196	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.8535:0.0:0.0:0.1465	10.342	0.43069	923	0.18507	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	756.46	78	chr3	14821206	.	A	C	756.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.305;DP=278;ExcessHet=0;FS=3.03;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=-0.981;SOR=0.896	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	6	0	1	0
chr3	15003967	15003967	C	G	exonic	NR2C2	.	nonsynonymous SNV	NR2C2:NM_001291694:exon2:c.C53G:p.A18G,NR2C2:NM_003298:exon2:c.C53G:p.A18G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0295345532005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.189e-05	0.0009	5.651e-05	4.724e-05	5.923e-05	4.24e-05	3.867e-05	4.761e-05	4.337e-05	3.02e-05	0	3.857e-05	2.528e-05	0	0	5.923e-05	6.69e-05	3.495e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.42199	T	0.088	0.63109	T	0.0	0.02946	B	0.0	0.01387	B	0.002953	0.35672	N	0.313188	0.869993	0.35545	D	-0.14	0.04484	N	-3.3	0.93787	D	-1.5	0.68764	N	0.324	0.36464	0.217	0.86200	D	0.665	0.88392	D	10	0.1999422	0.36022	T	0.029535	0.52028	D	0.348	0.66956	0.082	0.00727	0.202312658747	0.19855	0.13027040555393532	0.12952	0.343984992891	0.36322	0.632090747356	0.57442	T	0.163841	0.50907	T	0.0950387	0.63753	D	-0.10126	0.63300	T	0.647998213768005	0.38376	D	0.841416	0.51891	T	0.14685042	0.33598	0.112335265	0.27105	0.14685042	0.33597	0.112335265	0.27104	-2.954	0.13971	T	.	.	0.074	0.62122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.397345	0.47066	22.4	0.98891559513655258	0.48019	0.95884	0.66568	D	AEFBI	0.571784	0.57563	D	-0.0193053131226323	0.40981	2.443305	0.183621717806624	0.48950	3.104215	0.999976298748313	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.784000	0.62103	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.577	0.91115	588	0.69043	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	1660.79	141	chr3	15003967	.	C	G	1660.79	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-4.208;DP=1071;ExcessHet=6.1542;FS=258.487;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.78;ReadPosRankSum=1.42;SOR=10.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:176,70:246:99:.:.:566,0,4728:.	1	0	5	1
chr3	15251166	15251166	A	G	exonic	CAPN7	.	nonsynonymous SNV	CAPN7:NM_001376090:exon18:c.A2003G:p.N668S,CAPN7:NM_001376093:exon18:c.A1793G:p.N598S,CAPN7:NM_001376089:exon19:c.A2066G:p.N689S,CAPN7:NM_001376087:exon20:c.A2147G:p.N716S,CAPN7:NM_001376091:exon20:c.A1934G:p.N645S,CAPN7:NM_014296:exon21:c.A2348G:p.N783S,CAPN7:NM_001376086:exon22:c.A2216G:p.N739S	.	.	.	.	.	.	.	.	.	.	.	2362196	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.391	0.0569461225839	7.7e-05	.	9.899e-05	0.0002	0	0	0	0.0001	0.0011	0	9.06e-05	14	154602	rs373259698	8.242e-05	8.346e-05	7.932e-05	8.556e-05	0.0002	7.03e-05	6.579e-05	8.159e-05	7.548e-05	6.009e-05	2.25e-05	0	0	0	0.0002	9.663e-05	4.985e-05	6.993e-05	9.856e-05	9.851e-05	0.0001	6.725e-05	0.0001	6.006e-05	4.88e-05	7.908e-05	5.994e-05	0.0001	0	0	0	0	0	0	0.0001	0	0	0.247	0.17296	T	0.399	0.15059	T	0.709	0.42056	P	0.101	0.30765	B	0.000000	0.84330	D	0.041753	1	0.81001	D	2.325	0.66631	M	-2.16	0.86549	D	-1.93	0.44852	N	0.713	0.71587	-0.0443	0.81327	T	0.524	0.82268	D	10	0.6493766	0.69514	D	0.056946	0.66788	D	0.391	0.70684	.	.	0.901396340937	0.90041	0.5228167174739803	0.52204	0.241937108597	0.26711	0.62101316452	0.55872	T	0.283307	0.65606	T	-0.135829	0.30557	T	-0.177839	0.56722	T	0.0944887612072597	0.11740	T	0.90281	0.66017	D	0.37287647	0.58796	0.30566624	0.56593	0.37287647	0.58797	0.30566624	0.56592	-9.389	0.70166	D	.	.	0.124	0.26200	B	.	.	3.008251	0.40220	21.1	0.994392065540189	0.64670	0.99085	0.91004	D	AEFBI	0.880632	0.80742	D	0.378682180813403	0.60268	4.213964	0.492510555298228	0.67493	5.09136	0.999999991389932	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.711	0.71501	0	.	.	6.04	6.04	0.98025	7.225000	0.77534	11.254000	0.90845	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.286	0.82547	547	0.72440	Peptidase C2, calpain, large subunit, domain III|Peptidase C2, calpain, domain III|Calpain subdomain III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	1094.45	36	chr3	15251166	.	A	G	1094.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.43;DP=286;ExcessHet=0;FS=0.732;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=0.272;SOR=0.78	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1110	6	0	1	0
chr3	15256212	15256212	A	C	exonic	SH3BP5	.	nonsynonymous SNV	SH3BP5:NM_001018009:exon9:c.T771G:p.S257R,SH3BP5:NM_004844:exon9:c.T1242G:p.S414R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	0.0064	0.00678914	0.0017	0.0191	0.0004	0	0	1.499e-05	0	0	0.0016365	253	154602	rs142117555	0.0006	0.0006	0.0007	0.0005	0.0208	0.0006	0.0005	0.0196	0.0191	0.0208	0.0008	0	0	0	0.0003	1.529e-05	0.0016	6.956e-05	0.0055	0.0055	0.0063	0.0048	0.0195	0.0052	0.0051	0.0183	0.0179	0.0195	0	0.0013	0	0	0	0	5.883e-05	0.0047	0	0.187	0.21634	T	0.322	0.19016	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	.	.	.	-0.5	0.15782	N	0.072	0.14763	-1.0248	0.22148	T	0.025	0.10866	T	8	0.0032135248	0.00055	T	.	.	.	0.013	0.01715	0.262	0.20631	0.176091768786	0.17195	0.21613878206161916	0.21529	0.0568055738289	0.06281	0.306189537048	0.11332	T	0.069586	0.33746	T	-0.630632	0.00095	T	-0.663699	0.08019	T	0.00347162123900013	0.00037	T	0.484852	0.16474	T	0.033595853	0.03609	0.04398383	0.05596	0.033595853	0.03609	0.04398383	0.05595	-4.48	0.30626	T	.	.	0.104	0.18991	B	.;.;.	.;.;.	1.202692	0.15947	12.21	0.96528050765726103	0.30140	0.19969	0.20865	N	AEFBCI	0.081177	0.16422	N	-0.928561059271753	0.10177	0.4851539	-0.969803667510013	0.10468	0.5273654	0.798155389413773	0.24137	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	4.61	-2.44	0.06126	-0.128000	0.10508	1.311000	0.25538	0.587000	0.30956	0.244000	0.24789	0.987000	0.30940	0.578000	0.30845	0.1462:0.1606:0.5318:0.1613	2.601	0.04571	533	0.73433	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001524	0.000000	0.002717	0.009259	0.000000	0.000000	0.000000	0.003788	0.07143	1011.63	34	chr3	15256212	.	A	C	1011.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.3;DP=250;ExcessHet=0;FS=3.17;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=0.076;SOR=1.16	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr3	15489604	15489604	C	A	exonic	COLQ	.	nonsynonymous SNV	COLQ:NM_005677:exon2:c.G140T:p.G47V,COLQ:NM_080538:exon2:c.G110T:p.G37V,COLQ:NM_080539:exon2:c.G140T:p.G47V	Myasthenic syndrome, congenital, 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1457307	Congenital_myasthenic_syndrome_5	MONDO:MONDO:0011281,MedGen:C1864233,OMIM:603034,Orphanet:590	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.170	0.127374125889	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411203931	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.25154	T	0.256	0.35082	T	0.151	0.30743	B	0.069	0.33818	B	0.431666	0.12740	N	0.762367	0.978029	0.39629	D	0.55	0.14455	N	-2.63	0.91589	D	-0.98	0.27052	N	0.26	0.32370	-0.4032	0.71926	T	0.505	0.81334	D	10	0.16991487	0.31624	T	0.127374	0.80917	D	0.170	0.43303	0.523	0.62668	0.878369242962	0.87717	0.38817837389586946	0.38732	0.543497612951	0.51426	0.264020681381	0.05379	T	0.221023	0.58447	T	-0.0509788	0.44299	T	-0.311004	0.43550	T	0.408693045377731	0.29269	T	0.816918	0.48098	T	0.06764247	0.14667	0.08669072	0.20101	0.06764247	0.14667	0.08669072	0.20101	-3.987	0.24861	T	.	.	0.078	0.16494	B	.;.;.;.;.	.;.;.;.;.	1.508083	0.19376	14.23	0.93647207538641186	0.23529	0.11702	0.16806	N	AEFBI	0.144843	0.26791	N	-0.565202997609552	0.20009	1.051669	-0.477221249603547	0.22782	1.239154	0.466461244909185	0.20669	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	5.31	3.44	0.38486	-0.014000	0.12594	-0.015000	0.13005	-0.218000	0.08083	0.016000	0.19238	0.001000	0.17328	0.023000	0.12082	0.0:0.7974:0.0:0.2026	7.865	0.28696	525	0.74024	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	748.49	29	chr3	15489604	.	C	A	748.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.414;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=0.044;SOR=0.704	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1039	6	0	1	0
chr3	15635581	15635581	A	G	exonic	BTD	.	nonsynonymous SNV	BTD:NM_001281723:exon2:c.A142G:p.I48V,BTD:NM_001281725:exon2:c.A142G:p.I48V,BTD:NM_001281726:exon2:c.A142G:p.I48V,BTD:NM_001370658:exon2:c.A142G:p.I48V,BTD:NM_001370752:exon2:c.A142G:p.I48V,BTD:NM_001370753:exon2:c.A142G:p.I48V,BTD:NM_001323582:exon3:c.A142G:p.I48V,BTD:NM_001281724:exon4:c.A142G:p.I48V	Biotinidase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	518944	BTD-related_disorder|not_provided|Biotinidase_deficiency	.|MedGen:C3661900|MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260,Orphanet:79241	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.174	.	0.0076	0.00758786	0.0019	0.0213	0.0006	0	0	4.495e-05	0	0	0.0018111	280	154602	rs114092911	0.0006	0.0006	0.0007	0.0005	0.0225	0.0006	0.0006	0.0212	0.0207	0.0225	0.0011	0	0	0	0.0003	1.709e-05	0.0014	3.478e-05	0.0066	0.0066	0.0068	0.0064	0.0229	0.0063	0.0061	0.0217	0.0212	0.0229	0	0.0023	0	0	0	0.0068	0.0001	0.0033	0	0.543	0.19361	T	0.357	0.19304	T	0.008	0.14655	B	0.008	0.13708	B	0.096315	0.20082	N	0.527918	0.999996	0.08975	N	1.275	0.32135	L	-3.54	0.94799	D	-0.9	0.24244	N	0.093	0.08366	-0.5330	0.67428	T	0.281	0.65320	T	10	0.0063790977	0.00144	T	.	.	.	0.174	0.44019	.	.	0.777943573247	0.77589	0.5578327123927991	0.55710	0.0621684514235	0.06921	0.298597157001	0.10193	T	0.341769	0.71064	T	-0.38214	0.03020	T	-0.305438	0.44148	T	0.0011359375	0.00011	T	0.653935	0.26930	T	0.016402895	0.00195	0.02243346	0.00268	0.015889464	0.00163	0.020462217	0.00137	-3.736	0.27427	T	.	.	0.075	0.09191	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	-0.541320	0.01739	0.130	0.36609945770931657	0.02365	0.12476	0.17292	N	AEFDGBCIJ	0.178063	0.30532	N	-1.28448706787676	0.03862	0.17327	-1.36792486422879	0.03599	0.1682133	0.999999948231378	0.74766	0.730579	0.87903	0	0.688494	0.66719	0	0.688494	0.62686	0	0.648885	0.59868	0	.	.	4.72	-3.88	0.03927	0.728000	0.25682	-1.825000	0.04657	-0.604000	0.04605	0.105000	0.22895	0.000000	0.08366	0.001000	0.02609	0.4913:0.0:0.2714:0.2373	3.922	0.08747	484	0.77165	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.1429	3003.25	35	chr3	15635581	.	A	G	3003.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.125;DP=407;ExcessHet=0.3476;FS=0.982;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=0.017;SOR=0.795	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1215	5	0	2	0
chr3	15635591	15635591	T	C	exonic	BTD	.	nonsynonymous SNV	BTD:NM_001281723:exon2:c.T152C:p.L51P,BTD:NM_001281725:exon2:c.T152C:p.L51P,BTD:NM_001281726:exon2:c.T152C:p.L51P,BTD:NM_001370658:exon2:c.T152C:p.L51P,BTD:NM_001370752:exon2:c.T152C:p.L51P,BTD:NM_001370753:exon2:c.T152C:p.L51P,BTD:NM_001323582:exon3:c.T152C:p.L51P,BTD:NM_001281724:exon4:c.T152C:p.L51P	Biotinidase deficiency, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	47043	not_specified|Biotinidase_deficiency	MedGen:CN169374|MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260,Orphanet:79241	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.428	.	.	0.00179712	0.0016	0	8.637e-05	0	0	0	0	0.0116	0.0013389	207	154602	rs397514333	0.0007	0.0007	0.0003	0.0011	0.0120	0.0007	0.0007	0.0114	0.0112	2.987e-05	4.472e-05	0	0	0	0.0002	8.993e-07	0.0004	0.0120	0.0003	0.0003	0.0001	0.0004	0.0087	0.0002	0.0002	0.0066	0.0059	0	0	0	0	0	0	0	0	0	0.0087	0.42	0.09836	T	0.122	0.35710	T	0.0	0.02946	B	0.0	0.01387	B	0.000670	0.42516	N	0.242007	0.988903	0.40850	D	-0.785	0.01646	N	-3.35	0.94022	D	0.48	0.03041	N	0.166	0.18239	-0.6714	0.61765	T	0.394	0.74706	T	10	0.0107168555	0.00237	T	.	.	.	0.428	0.73517	0.844	0.94845	0.760892739256	0.75871	0.7374654736066695	0.73691	0.114119342895	0.12869	0.328952461481	0.14776	T	0.228189	0.59367	T	-0.189707	0.22300	T	-0.0348891	0.68043	D	0.0137185897483627	0.00257	T	0.224178	0.02920	T	0.03588842	0.04310	0.047470268	0.06844	0.045759946	0.07544	0.04274093	0.05158	-0.022	0.00357	T	.	.	0.037	0.00010	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	0.050697	0.04644	1.301	0.4548821469364564	0.03574	0.05095	0.10894	N	AEFDGBCIJ	0.091327	0.18500	N	-1.15207348532111	0.05746	0.2627579	-1.05633381738596	0.08575	0.4222788	0.999999930027283	0.74766	0.730579	0.87903	0	0.688494	0.66719	0	0.688494	0.62686	0	0.648885	0.59868	0	.	.	4.72	1.93	0.24985	2.014000	0.40571	0.237000	0.16261	-0.200000	0.08971	0.429000	0.26401	0.000000	0.08366	0.003000	0.05239	0.1506:0.6088:0.0:0.2406	4.714	0.12264	484	0.77165	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	94.44	35	chr3	15635591	.	T	C	94.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.108;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=1.07;SOR=0.368	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1215	6	0	1	0
chr3	15679512	15679512	G	A	exonic	ANKRD28	.	nonsynonymous SNV	ANKRD28:NM_001195099:exon20:c.C1889T:p.T630M,ANKRD28:NM_001349280:exon21:c.C2183T:p.T728M,ANKRD28:NM_001195098:exon22:c.C1889T:p.T630M,ANKRD28:NM_001349277:exon22:c.C2450T:p.T817M,ANKRD28:NM_001349278:exon22:c.C2441T:p.T814M,ANKRD28:NM_001349281:exon22:c.C2183T:p.T728M,ANKRD28:NM_001349282:exon22:c.C2183T:p.T728M,ANKRD28:NM_001349283:exon22:c.C1889T:p.T630M,ANKRD28:NM_015199:exon22:c.C2351T:p.T784M,ANKRD28:NM_001349279:exon23:c.C2342T:p.T781M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0038	0.00319489	0.0011	0.0114	0.0006	0.0014	0	7.895e-05	0.0023	0	0.0009767	151	154602	rs116650555	0.0004	0.0004	0.0004	0.0003	0.0112	0.0003	0.0003	0.0103	0.0099	0.0112	0.0008	0	0.0010	0	0.0005	1.889e-05	0.0009	5.797e-05	0.0031	0.0031	0.0031	0.0030	0.0106	0.0028	0.0027	0.0098	0.0095	0.0106	0	0.0009	0	0.0006	0	0.0034	2.941e-05	0.0019	0.0002	0.439	0.09291	T	0.307	0.23501	T	0.0	0.02946	B	0.001	0.04355	B	0.151794	0.17943	N	0.638814	1	0.08975	N	1.245	0.31408	L	2.36	0.16089	T	1.39	0.00846	N	0.199	0.24385	-1.0224	0.22932	T	0.019	0.07893	T	10	0.005570203	0.00123	T	.	.	.	0.043	0.11576	.	.	0.202312658747	0.19855	0.21029837617745442	0.20945	0.184250353618	0.20723	0.325887948275	0.14312	T	0.019111	0.15285	T	-0.696496	0.00038	T	-0.76385	0.02976	T	0.00317203554184759	0.00033	T	0.742826	0.36203	T	0.011578356	0.00019	0.02568174	0.00622	0.011578356	0.00019	0.02568174	0.00622	-3.711	0.19481	T	.	.	0.055	0.00390	B	.;.	.;.	1.459584	0.18817	13.94	0.66157240525635974	0.07977	0.48762	0.28280	N	AEFDGBIJ	0.055600	0.10210	N	-0.773645921985997	0.13999	0.6938717	-0.694202575891666	0.17104	0.9080127	0.999486961807393	0.39952	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.723	0.93126	0	.	.	6.06	-0.832	0.10240	1.999000	0.40425	1.563000	0.27369	-0.113000	0.14837	0.988000	0.36536	0.269000	0.24035	0.944000	0.48669	0.6791:0.0:0.3209:0.0	10.675	0.44976	492	0.76569	.;Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	3959.24	36	chr3	15679512	.	G	A	3959.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.29;DP=462;ExcessHet=0.3476;FS=4.593;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=1.07;SOR=0.944	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1203	5	0	2	0
chr3	17014786	17014786	C	T	exonic	PLCL2	.	nonsynonymous SNV	PLCL2:NM_001144382:exon3:c.C2893T:p.P965S,PLCL2:NM_015184:exon3:c.C2515T:p.P839S	.	.	.	.	.	.	.	.	.	.	.	697922	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.097	.	0.0098	0.00658946	0.0022	0.0248	0.0008	0	0	5.994e-05	0.0011	0	0.0021022	325	154602	rs74332311	0.0008	0.0008	0.0009	0.0007	0.0260	0.0008	0.0007	0.0246	0.0240	0.0260	0.0011	0	0	0	0.0021	9.892e-05	0.0018	1.159e-05	0.0074	0.0074	0.0077	0.0072	0.0256	0.0071	0.0069	0.0243	0.0238	0.0256	0	0.0032	0	0	0	0	0.0001	0.0066	0.0002	1.0	0.00964	T	0.831	0.03706	T	0.0	0.02946	B	0.0	0.01387	B	0.001601	0.38497	N	0.291867	0.752867	0.29620	N	.	.	.	2.48	0.14657	T	1.4	0.00835	N	0.176	0.22228	-0.9649	0.38230	T	0.004	0.01435	T	9	0.003397882	0.00059	T	.	.	.	0.097	0.27909	.	.	0.220282294035	0.21616	0.2611393278077149	0.26026	.	.	0.440456300974	0.30639	T	0.076779	0.35499	T	-0.514555	0.00473	T	-0.490949	0.23291	T	0.00730543206188604	0.00084	T	.	.	.	0.064265445	0.13619	0.07881686	0.17688	0.064265445	0.13618	0.07881686	0.17687	-1.299	0.01566	T	.	.	0.079	0.07083	B	.;.	.;.	1.957512	0.24864	16.55	0.27540556105475517	0.01372	0.69484	0.34206	D	AEFDBI	0.109145	0.21689	N	-0.423644350747114	0.24643	1.332033	-0.288343530295596	0.28482	1.588382	0.999979122426182	0.50053	0.743674	0.98306	0	0.724815	0.89359	0	0.630245	0.45026	0	0.683762	0.67416	0	.	.	5.16	2.17	0.26736	1.725000	0.37696	3.404000	0.38147	0.599000	0.40250	0.805000	0.29786	0.998000	0.33993	0.758000	0.36073	0.5214:0.3905:0.0:0.0881	7.037	0.24176	635	0.64580	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002016	0.010101	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1429	1967.29	34	chr3	17014786	.	C	T	1967.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.437;DP=315;ExcessHet=0.3476;FS=2.809;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=2.28;SOR=0.49	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1348	5	0	2	0
chr3	17308108	17308108	C	T	exonic	TBC1D5	.	nonsynonymous SNV	TBC1D5:NM_001349086:exon12:c.G614A:p.R205Q,TBC1D5:NM_001349091:exon12:c.G614A:p.R205Q,TBC1D5:NM_001349073:exon13:c.G1022A:p.R341Q,TBC1D5:NM_001349080:exon13:c.G1022A:p.R341Q,TBC1D5:NM_001349083:exon13:c.G614A:p.R205Q,TBC1D5:NM_001349087:exon13:c.G614A:p.R205Q,TBC1D5:NM_001349089:exon13:c.G614A:p.R205Q,TBC1D5:NM_001349074:exon14:c.G1022A:p.R341Q,TBC1D5:NM_001349075:exon14:c.G1022A:p.R341Q,TBC1D5:NM_001349077:exon14:c.G1022A:p.R341Q,TBC1D5:NM_001349078:exon14:c.G1022A:p.R341Q,TBC1D5:NM_001349081:exon14:c.G1043A:p.R348Q,TBC1D5:NM_001349082:exon14:c.G614A:p.R205Q,TBC1D5:NM_001349084:exon14:c.G614A:p.R205Q,TBC1D5:NM_001349085:exon14:c.G614A:p.R205Q,TBC1D5:NM_001349088:exon14:c.G614A:p.R205Q,TBC1D5:NM_001349090:exon14:c.G614A:p.R205Q,TBC1D5:NM_014744:exon14:c.G1022A:p.R341Q,TBC1D5:NM_001134381:exon15:c.G1022A:p.R341Q,TBC1D5:NM_001349076:exon15:c.G1022A:p.R341Q,TBC1D5:NM_001349079:exon15:c.G1022A:p.R341Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.0330445370444	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1254660421	6.928e-06	7.524e-06	8.272e-06	5.57e-06	2.583e-05	3.5e-06	2.55e-06	3.82e-06	2.77e-06	0	0	0	2.583e-05	0	0	8.128e-06	0	0	6.576e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.305	0.32671	L	1.46	0.32238	T	-3.34	0.66325	D	0.977	0.98750	-0.9291	0.44270	T	0.168	0.50794	T	10	0.9004142	0.89402	D	0.033045	0.54705	D	0.561	0.82003	0.788	0.91068	0.70747093814	0.70492	0.7432164503930294	0.74267	0.660060915691	0.58845	0.793730676174	0.81010	T	0.231735	0.59813	T	0.241028	0.77758	D	0.108443	0.77469	D	0.996667921543121	0.89818	D	0.983402	0.95926	D	0.6604973	0.75926	0.73237336	0.84184	0.6604973	0.75927	0.73237336	0.84185	-11.827	0.83998	D	.	.	0.957	0.87636	P	.;.;.;.	.;.;.;.	5.513616	0.91708	32	0.99961477680916511	0.99998	0.94438	0.61166	D	AEFDGBHCI	0.893238	0.83099	D	0.760983617528322	0.83620	8.064941	0.775059396066988	0.88010	9.424956	0.999999999999992	0.74766	0.758104	0.99027	0	0.709663	0.81188	0	0.691618	0.62860	0	0.613276	0.41899	0	.	.	5.65	5.65	0.86881	7.821000	0.84782	7.622000	0.62351	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	19.718	0.96126	634	0.64659	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	217.53	33	chr3	17308108	.	C	T	217.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.485;DP=196;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.02;ReadPosRankSum=0.207;SOR=0.608	GT:AD:DP:GQ:PL	0/1:20,11:31:99:228,0,490	6	0	1	0
chr3	19518018	19518018	G	C	exonic	KCNH8	.	nonsynonymous SNV	KCNH8:NM_144633:exon15:c.G2563C:p.V855L	.	437	1041	44	0	0	44	0.0206961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	.	0.0050	0.00878594	0.0071	0.0013	0.0030	0.0093	0.0003	0.0057	0.0122	0.0202	0.0067464	1043	154602	rs148330866	0.0069	0.0069	0.0066	0.0072	0.0187	0.0068	0.0067	0.0180	0.0177	0.0013	0.0028	0.0089	0.0069	0.0004	0.0104	0.0064	0.0093	0.0187	0.0045	0.0045	0.0046	0.0043	0.0195	0.0042	0.0041	0.0163	0.0151	0.0015	0	0.0028	0.0092	0.0064	0.0002	0.0136	0.0058	0.0066	0.0195	0.449	0.09022	T	0.45	0.12957	T	0.004	0.12183	B	0.006	0.12133	B	0.235214	0.15833	U	0.319355	0.952348	0.26441	N	1.22	0.30592	L	-4.94	0.98409	D	-0.12	0.08809	N	0.442	0.48042	0.347	0.88289	D	0.777	0.92439	D	9	0.0077180862	0.00175	T	.	.	.	0.276	0.59253	.	.	0.819814452651	0.81811	0.3165417831225672	0.31567	0.0221848989643	0.02225	0.566369891167	0.48166	T	0.043438	0.26503	T	-0.276342	0.11059	T	-0.154786	0.58818	T	0.00441561722205172	0.00047	T	0.849515	0.53247	T	0.053219985	0.10038	0.05492728	0.09540	0.053219985	0.10038	0.05492728	0.09539	-3.412	0.15218	T	.	.	0.129	0.27553	B	.	.	2.551420	0.33023	19.22	0.97481368689112602	0.34188	0.90754	0.52198	D	AEFI	0.426222	0.49066	N	-0.214322457249247	0.32546	1.836586	-0.0371423809536064	0.38051	2.236427	5.53132372717157E-5	0.04171	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.66	3.82	0.43153	3.433000	0.52597	7.417000	0.58687	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0727:0.0:0.7821:0.1452	9.463	0.37962	667	0.61242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010081	0.000000	0.006793	0.011696	0.000000	0.008621	0.012195	0.022727	0.07143	964.46	33	chr3	19518018	.	G	C	964.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.427;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-0.505;SOR=0.752	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1175	6	0	1	0
chr3	20001751	20001751	G	T	exonic	PP2D1	.	nonsynonymous SNV	PP2D1:NM_001252657:exon2:c.C369A:p.F123L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	.	0.0105831	0.0018	0.0198	0	0	0	0.0036	0	0	0.0007374	114	154602	rs7652446	0.0008	0.0008	0.0009	0.0007	0.0250	0.0008	0.0007	0.0235	0.0230	0.0250	0.0016	0.0039	0	0	0.0012	6.408e-05	0.0016	0	0.0072	0.0073	0.0074	0.0071	0.0253	0.0069	0.0067	0.0240	0.0235	0.0253	0	0.0018	0.0037	0	0	0	8.822e-05	0.0024	0.0002	0.37	0.11550	T	0.408	0.14633	T	.	.	.	.	.	.	0.851279	0.08960	N	0.929892	1	0.08975	N	1.35	0.33515	L	2.3	0.16953	T	-1.84	0.43149	N	0.063	0.03502	-0.9470	0.41481	T	0.007	0.02518	T	9	0.0034809709	0.00062	T	.	.	.	0.034	0.08419	0.59	0.71874	0.0138822411134	0.00435	0.1732052823595004	0.17240	.	.	0.389454126358	0.23592	T	0.011757	0.10442	T	-0.717915	0.00028	T	-0.784415	0.02323	T	0.00172235681405089	0.00018	T	0.338066	0.07246	T	0.07688486	0.17415	0.05562679	0.09793	0.07688486	0.17415	0.05562679	0.09793	-2.386	0.05047	T	.	.	0.259	0.49383	B	.	.	0.013838	0.04377	1.130	0.66743336377112261	0.08148	0.19420	0.20654	N	AEFI	0.108718	0.21619	N	-1.27695591759128	0.03954	0.177604	-1.29044810982327	0.04559	0.2152987	0.0104239061495552	0.12023	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.6	0.53	0.16296	0.271000	0.18390	2.027000	0.30236	-0.988000	0.01860	0.000000	0.06391	1.000000	0.68203	0.004000	0.06068	0.1781:0.2028:0.515:0.1042	3.668	0.07798	701	0.57775	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	2031.24	68	chr3	20001751	.	G	T	2031.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.643;DP=509;ExcessHet=0.3476;FS=1.146;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=1.3;SOR=0.628	GT:AD:DP:GQ:PL	0/0:86,0:86:99:0,120,1800	5	0	2	0
chr3	20140317	20140317	C	T	exonic	KAT2B	.	nonsynonymous SNV	KAT2B:NM_003884:exon13:c.C1957T:p.R653W	.	428	1062	31	1	0	33	0.015299	.	.	.	3206732	KAT2B-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.141	.	0.0036	0.00159744	0.0034	0.0007	0.0011	0	0.0008	0.0049	0.0132	0.0027	0.0033247	514	154602	rs116196143	0.0034	0.0034	0.0033	0.0034	0.0109	0.0033	0.0032	0.0087	0.0079	0.0005	0.0015	0.0182	5.038e-05	0.0008	0.0109	0.0033	0.0044	0.0038	0.0023	0.0023	0.0024	0.0022	0.0033	0.0021	0.0020	0.0027	0.0026	0.0005	0	0.0019	0.0179	0.0002	0.0003	0.0034	0.0031	0.0043	0.0033	0.085	0.32769	T	0.107	0.37730	T	0.996	0.68779	D	0.451	0.46123	P	0.003954	0.34294	N	0.381500	0.807127	0.34590	D	2.565	0.75005	M	1.91	0.23283	T	-5.62	0.86758	D	0.392	0.43320	-0.9454	0.41748	T	0.054	0.22997	T	10	0.012265682	0.00264	T	.	.	.	0.141	0.37795	.	.	0.287411543184	0.28351	0.7273030285561954	0.72674	0.916642512623	0.71263	0.370670676231	0.20928	T	0.840931	0.96290	D	-0.495169	0.00609	T	-0.48406	0.24015	T	0.0689269644871812	0.08499	T	0.987301	0.95681	D	0.37912828	0.59254	0.1573653	0.36800	0.37912828	0.59254	0.1573653	0.36799	-10.961	0.79444	D	.	.	0.238	0.47239	B	.	.	4.116573	0.61501	24.3	0.99855882320124989	0.93458	0.85128	0.44235	D	AEFI	0.418356	0.48602	N	0.37314403849247	0.59970	4.181216	0.338402836118541	0.57811	3.948447	0.982835378379117	0.30462	0.638212	0.43195	0	0.653731	0.59785	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	5.41	3.34	0.37357	2.554000	0.45507	1.830000	0.29108	0.599000	0.40250	0.981000	0.35396	0.865000	0.27529	0.740000	0.35438	0.3738:0.5337:0.0:0.0925	6.643	0.22113	676	0.60355	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.010101	0.004076	0.002924	0.000000	0.008621	0.015244	0.000000	0.07143	275.45	36	chr3	20140317	.	C	T	275.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.08;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.65;ReadPosRankSum=1.31;SOR=0.818	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1184	6	0	1	0
chr3	24228952	24228952	G	A	exonic	THRB	.	nonsynonymous SNV	THRB:NM_000461:exon3:c.C8T:p.P3L,THRB:NM_001354708:exon3:c.C8T:p.P3L,THRB:NM_001354711:exon3:c.C8T:p.P3L,THRB:NM_001354713:exon3:c.C8T:p.P3L,THRB:NM_001374822:exon3:c.C8T:p.P3L,THRB:NM_001374823:exon3:c.C8T:p.P3L,THRB:NM_001374827:exon3:c.C8T:p.P3L,THRB:NM_001128176:exon4:c.C8T:p.P3L,THRB:NM_001128177:exon4:c.C8T:p.P3L,THRB:NM_001354709:exon4:c.C8T:p.P3L,THRB:NM_001354710:exon4:c.C8T:p.P3L,THRB:NM_001354712:exon4:c.C8T:p.P3L,THRB:NM_001374824:exon4:c.C8T:p.P3L,THRB:NM_001374825:exon4:c.C8T:p.P3L,THRB:NM_001374826:exon4:c.C8T:p.P3L,THRB:NM_001252634:exon5:c.C8T:p.P3L	Thyroid hormone resistance, Autosomal dominant;Thyroid hormone resistance, autosomal recessive, Autosomal recessive;Thyroid hormone resistance, selective pituitary, Autosomal dominant	4	1514	4	0	0	4	0.00131926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.126711156963	.	.	1.65e-05	0	0	0	0	1.5e-05	0.0011	0	1.94e-05	3	154602	rs760749837	1.027e-05	1.026e-05	1.09e-05	9.635e-06	0.0002	6.17e-06	4.89e-06	5.76e-06	4.55e-06	0	0	0	0	0	0.0002	1.08e-05	3.314e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.994	0.66517	D	0.981	0.75168	D	.	.	.	.	0.993617	0.41996	D	0.695	0.17993	N	-3.34	0.93975	D	-0.36	0.93974	N	0.688	0.69387	0.752	0.93822	D	0.784	0.92680	D	9	0.5077198	0.61916	D	0.126711	0.80842	D	0.577	0.82912	0.25	0.18757	0.857654564937	0.85628	0.08650499765988812	0.08584	0.0441243703134	0.04750	0.751009404659	0.74595	T	0.375417	0.73902	T	0.30893	0.83666	D	0.20598	0.83454	D	0.722324073314667	0.41817	D	0.855714	0.54342	D	0.1840385	0.39701	0.28108802	0.54088	0.1840385	0.39700	0.28108802	0.54087	-2.369	0.04946	T	.	.	0.182	0.80562	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.778558	0.77428	26.7	0.99827491835029358	0.90939	0.92483	0.55817	D	AEFI	0.744786	0.68766	D	0.621144978252162	0.74513	6.145606	0.690236196254897	0.81636	7.573546	0.999999958899645	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	6.05	6.05	0.98156	4.562000	0.60528	11.847000	0.97966	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	16.101	0.80984	853	0.34956	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	366.83	29	chr3	24228952	.	G	A	366.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.564;DP=225;ExcessHet=0;FS=1.536;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.461;SOR=0.33	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	6	0	1	0
chr3	25794138	25794138	A	C	exonic	OXSM	.	nonsynonymous SNV	OXSM:NM_017897:exon3:c.A1024C:p.I342L,OXSM:NM_001145391:exon4:c.A775C:p.I259L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0182339887754	.	.	2.478e-05	0	0	0	0	1.502e-05	0	0.0001	1.94e-05	3	154602	rs369371481	4.789e-05	4.857e-05	4.356e-05	5.226e-05	0.0002	3.86e-05	3.54e-05	0.0001	0.0001	5.974e-05	0	0	0	0	0	4.497e-05	1.656e-05	0.0002	1.971e-05	1.97e-05	2.569e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.064	0.36509	T	0.094	0.43344	T	0.005	0.17086	B	0.326	0.47360	B	0.000130	0.49741	D	0.207969	0.992709	0.41719	D	2.11	0.58565	M	.	.	.	-1.89	0.44852	N	0.264	0.46368	-0.6813	0.61312	T	0.232	0.59818	T	9	0.3269746	0.49987	T	0.018234	0.40224	T	0.116	0.32463	0.78	0.90465	0.223146558224	0.21909	0.7377803896227764	0.73723	0.261991650571	0.28766	0.391904473305	0.23938	T	0.290698	0.66347	T	-0.213378	0.18906	T	-0.2846	0.46330	T	0.203765528559915	0.20622	T	0.979502	0.93484	D	0.34272403	0.56495	0.16911417	0.38922	0.34272403	0.56495	0.16911417	0.38921	-6.208	0.51780	T	.	.	0.304	0.60101	B	.;.	.;.	2.860508	0.37796	20.6	0.97552546731643031	0.34577	0.93153	0.57464	D	AEFBI	0.556572	0.56655	D	-0.110500589714515	0.36934	2.14177	-0.056581818560547	0.37207	2.175383	0.999876672534418	0.44625	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.43	1.37	0.21200	2.184000	0.42205	5.285000	0.48191	0.756000	0.94297	0.987000	0.36337	1.000000	0.68203	0.993000	0.69303	0.6658:0.0:0.3341:0.0	8.299	0.31166	590	0.68897	Beta-ketoacyl synthase, C-terminal|Polyketide synthase, beta-ketoacyl synthase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	860.27	34	chr3	25794138	.	A	C	860.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.576;DP=247;ExcessHet=0;FS=2.029;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-0.086;SOR=0.458	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1242	5	0	1	1
chr3	27484115	27484115	A	T	exonic	SLC4A7	.	nonsynonymous SNV	SLC4A7:NM_001258379:exon1:c.T12A:p.D4E,SLC4A7:NM_001321103:exon1:c.T12A:p.D4E,SLC4A7:NM_001321104:exon1:c.T12A:p.D4E,SLC4A7:NM_001321105:exon1:c.T12A:p.D4E,SLC4A7:NM_001321106:exon1:c.T12A:p.D4E,SLC4A7:NM_001321107:exon1:c.T12A:p.D4E,SLC4A7:NM_001321108:exon1:c.T12A:p.D4E	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	.	.	0.00159744	0.0091	0	0.0161	0	.	0	0	0.0123	0.0004657	72	154602	rs540556299	0.0004	0.0005	0.0002	0.0006	0.0084	0.0004	0.0004	0.0078	0.0076	3.884e-05	4.441e-05	0	0	0	0.0006	2.001e-06	0.0005	0.0084	0.0003	0.0003	0.0002	0.0004	0.0087	0.0002	0.0002	0.0066	0.0059	0	0	0	0	0	0	0	1.478e-05	0	0.0087	0.302	0.14400	T	0.807	0.04054	T	0.033	0.20350	B	0.005	0.11217	B	.	.	.	.	1	0.81001	D	.	.	.	-1.01	0.77206	T	-0.44	0.15782	N	0.035	0.01004	-0.9724	0.36691	T	0.176	0.52084	T	8	0.004274696	0.00086	T	.	.	.	0.109	0.30843	0.198	0.11110	0.134007934775	0.12933	0.10936974850207638	0.10865	.	.	.	.	.	.	.	.	-0.41242	0.01916	T	-0.359216	0.38143	T	0.0661104297318798	0.08095	T	0.641836	0.26051	T	.	.	.	.	.	.	.	.	-2.387	0.06695	T	.	.	0.083	0.09191	B	.;.;.;.;.;.	.;.;.;.;.;.	1.619645	0.20688	14.86	0.9147042564089195	0.20741	0.12922	0.17560	N	AEFDBHCI	0.080541	0.16287	N	-0.744187625820136	0.14792	0.7398571	-0.733978276889623	0.16116	0.8510647	0.999999898532294	0.74766	0.242642	0.04205	2	0.484254	0.07192	0	0.391439	0.06340	0	0.372554	0.06265	0	.	.	3.34	-4.64	0.03109	-0.009000	0.12703	1.320000	0.25596	0.557000	0.28285	0.988000	0.36536	1.000000	0.68203	0.046000	0.14843	0.2461:0.1845:0.3881:0.1812	1.333	0.02010	376	0.83959	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	340.27	24	chr3	27484115	.	A	T	340.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.41;DP=146;ExcessHet=0;FS=1.32;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=2.18;SOR=1.061	GT:AD:DP:GQ:PL	0/0:26,0:26:72:0,72,751	5	0	1	1
chr3	28478826	28478826	A	C	exonic	ZCWPW2	.	nonsynonymous SNV	ZCWPW2:NM_001324169:exon4:c.A505C:p.K169Q,ZCWPW2:NM_001040432:exon5:c.A505C:p.K169Q	.	.	.	.	.	.	.	.	.	.	.	3353502	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.057	0.0340105784958	.	.	6.255e-05	0	0	0	0	9.892e-05	0.0012	0	5.82e-05	9	154602	rs758939037	6.408e-05	6.704e-05	6.577e-05	6.236e-05	0.0032	5.292e-05	4.917e-05	0.0020	0.0017	0.0002	0	0	0	0	0.0032	5.738e-05	7.005e-05	0	3.287e-05	3.283e-05	5.142e-05	1.345e-05	6.549e-05	1.261e-05	7.98e-06	1.973e-05	1.125e-05	0	0	6.549e-05	0	0	0	0	5.883e-05	0	0	0.028	0.46129	D	0.046	0.49120	D	0.158	0.28271	B	0.188	0.36237	B	0.444501	0.12585	N	0.732309	0.999999	0.08975	N	1.725	0.44537	L	-0.53	0.70833	T	-1.18	0.30140	N	0.134	0.13055	-0.9828	0.34351	T	0.127	0.43462	T	10	0.069399655	0.09953	T	0.034011	0.55380	D	0.057	0.16321	.	.	0.18274738541	0.17906	0.28407015207325814	0.28320	0.0776506249003	0.08735	0.300908058882	0.10536	T	0.005762	0.05208	T	-0.248695	0.14258	T	-0.402018	0.33148	T	0.077439167359099	0.09656	T	0.50435	0.15896	T	0.08775662	0.20447	0.06706658	0.13825	0.08775662	0.20447	0.06706658	0.13825	-6.134	0.47387	T	.	.	0.123	0.25882	B	.	.	2.872729	0.37987	20.6	0.95089363539488703	0.26151	0.52621	0.29175	D	AEFI	0.087935	0.17828	N	-0.28934100265893	0.29559	1.640272	-0.331051182149889	0.27102	1.501512	3.96203994645916E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	4.87	2.41	0.28644	2.141000	0.41792	3.882000	0.40245	-0.182000	0.10109	0.992000	0.37556	0.997000	0.33255	0.969000	0.54022	0.7222:0.1819:0.0959:0.0	5.156	0.14365	690	0.58899	PWWP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000506	0.000000	0.000000	0.002959	0.000000	0.000000	0.000000	0.000000	0.08333	165.29	6	chr3	28478826	.	A	C	165.29	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.19;DP=83;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-0.786;SOR=1.022	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,585	5	0	1	1
chr3	31683812	31683812	C	A	exonic	OSBPL10	.	nonsynonymous SNV	OSBPL10:NM_001174060:exon7:c.G1356T:p.M452I,OSBPL10:NM_017784:exon8:c.G1548T:p.M516I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00431994488347	7.7e-05	.	7.413e-05	0	8.637e-05	0	0	0.0001	0	0	5.82e-05	9	154602	rs373301817	7.182e-05	7.182e-05	7.35e-05	7.013e-05	0.0003	6.047e-05	5.595e-05	0.0002	0.0002	0	0.0003	0	0	0	0.0002	6.924e-05	0.0002	0	0.0001	0.0001	0.0002	9.4e-05	0.0007	9.738e-05	8.253e-05	0.0004	0.0003	2.406e-05	0	0.0007	0	0	0	0.0034	0.0001	0.0005	0	0.447	0.09075	T	0.365	0.16717	T	0.0	0.02946	B	0.001	0.04355	B	0.307333	0.03992	N	1.391710	0.999997	0.08975	N	-1.1	0.00987	N	2.0	0.21473	T	-0.57	0.17210	N	0.157	0.18512	-0.9995	0.30058	T	0.015	0.06282	T	10	0.03754562	0.02116	T	0.00432	0.10498	T	0.026	0.05648	0.352	0.35084	0.297375071883	0.29337	0.24943365932217923	0.24857	0.273771757959	0.29875	0.243838340044	0.03146	T	0.018929	0.15174	T	-0.496756	0.00596	T	-0.640813	0.09609	T	0.0242875866625291	0.01181	T	0.485951	0.14839	T	0.017813131	0.00305	0.025224645	0.00560	0.017813131	0.00305	0.025224645	0.00560	-3.475	0.16084	T	.	.	0.097	0.15921	B	.;.	.;.	-0.057653	0.03902	0.857	0.6237401760376392	0.06946	0.29326	0.23792	N	AEFBI	0.234970	0.35764	N	-1.20472882820901	0.04930	0.2235852	-1.28434789216955	0.04641	0.2194107	0.991573368712674	0.32535	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	-4.91	0.02857	0.215000	0.17352	-1.130000	0.06241	-0.242000	0.07441	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.1613:0.2484:0.2156:0.3747	1.267	0.01891	682	0.59757	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	1593.44	144	chr3	31683812	.	C	A	1593.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.113;DP=332;ExcessHet=0;FS=1.326;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.082;SOR=0.82	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1396	6	0	1	0
chr3	31989575	31989575	C	G	exonic	ZNF860	.	nonsynonymous SNV	ZNF860:NM_001137674:exon2:c.C496G:p.L166V	.	.	.	.	.	.	.	.	.	.	.	3358553	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.037	0.000721719557959	.	.	7.446e-05	9.846e-05	0	0	0	6.019e-05	0.0011	0.0002	5.82e-05	9	154602	rs145325915	9.098e-05	9.098e-05	9.12e-05	9.075e-05	0.0047	7.823e-05	7.305e-05	0.0033	0.0028	8.961e-05	0	0	0	0	0.0047	6.745e-05	8.279e-05	0.0003	8.54e-05	8.536e-05	3.853e-05	0.0001	0.0001	4.956e-05	3.962e-05	6.803e-05	5.086e-05	4.823e-05	0	6.546e-05	0	0	0	0.0032	0.0001	0	0	0.014	0.53172	D	0.031	0.53788	D	0.88	0.48402	P	0.899	0.63802	P	.	.	.	.	1	0.08975	N	2.67	0.78151	M	3.49	0.05071	T	-2.2	0.49519	N	0.02	0.00308	-1.0251	0.22050	T	0.031	0.13286	T	8	0.11222786	0.21045	T	7.22E-4	0.00472	T	0.037	0.09474	0.468	0.54052	0.30212335484	0.29822	0.005394210596519074	0.00510	0.236902228029	0.26229	0.286781191826	0.08455	T	0.009974	0.09046	T	-0.544008	0.00317	T	-0.727058	0.04461	T	0.100069691137418	0.12365	T	0.122788	0.00953	T	0.10720005	0.25348	0.09591591	0.22769	0.10720005	0.25348	0.09591591	0.22768	-7.947	0.60708	D	.	.	0.079	0.07130	B	.	.	1.578171	0.20196	14.64	0.89090605213807972	0.18503	0.00793	0.03241	N	AEFBI	0.035291	0.04516	N	-0.529375141103446	0.21135	1.119409	-0.821896193327794	0.13965	0.7272844	0.763322335750834	0.23547	0.554377	0.28877	0	0.573888	0.26702	0	0.463624	0.06942	0	0.567892	0.33627	0	.	.	0.345	0.345	0.15249	0.735000	0.25783	-2.951000	0.03199	0.228000	0.18124	0.000000	0.06391	0.000000	0.08366	0.066000	0.16387	0.0:0.9998:0.0:2.0E-4	6.444	0.21066	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	3712.44	160	chr3	31989575	.	C	G	3712.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.181;DP=1093;ExcessHet=0;FS=1.46;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.507;SOR=0.588	GT:AD:DP:GQ:PL	0/0:291,0:291:99:0,120,1800	6	0	1	0
chr3	31990236	31990236	T	C	exonic	ZNF860	.	nonsynonymous SNV	ZNF860:NM_001137674:exon2:c.T1157C:p.I386T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.000680827859937	.	0.000199681	1.66e-05	0	0	0	0	3.014e-05	0	0	1.94e-05	3	154602	rs187560391	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	6.568e-06	6.562e-06	0	1.343e-05	2.406e-05	0	0	.	.	2.406e-05	0	0	0	0	0	0	0	0	0	0.702	0.04148	T	1.0	0.01155	T	0.208	0.29916	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	-0.08	0.04796	N	1.28	0.35960	T	0.58	0.02598	N	0.073	0.04668	-1.0213	0.23292	T	0.030	0.12935	T	8	0.02943194	0.01070	T	6.81E-4	0.00400	T	0.017	0.02790	.	.	0.0666544352282	0.05500	0.009125417300214583	0.00875	0.173288187603	0.19520	0.336557477713	0.15922	T	6.06E-4	0.00251	T	-0.345294	0.05030	T	-0.670121	0.07600	T	0.0455095657100863	0.04695	T	0.340966	0.07383	T	0.025703022	0.01537	0.0325274	0.02003	0.025703022	0.01537	0.0325274	0.02003	-2.383	0.05029	T	.	.	0.224	0.45544	B	.	.	-0.266111	0.02770	0.374	0.42787720733436096	0.03177	0.02968	0.07809	N	AEFBCI	0.029231	0.02722	N	-1.19409514664138	0.05089	0.2311748	-1.28898639593987	0.04579	0.216289	0.763135348697062	0.23544	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.567892	0.33627	0	.	.	0.336	0.336	0.15198	-0.214000	0.09296	-20.000000	0.00162	0.249000	0.18320	0.000000	0.06391	0.000000	0.08366	0.490000	0.28791	0.4617:0.0:1.0E-4:0.5382	2.419	0.04173	946	0.12043	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2483.44	144	chr3	31990236	.	T	C	2483.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.649;DP=834;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.99;MQRankSum=0;QD=13.14;ReadPosRankSum=-1.134;SOR=0.671	GT:AD:DP:GQ:PL	0/0:207,0:207:99:0,120,1800	6	0	1	0
chr3	32238980	32238980	A	G	exonic	CMTM8	.	nonsynonymous SNV	CMTM8:NM_001320308:exon1:c.A8G:p.E3G,CMTM8:NM_178868:exon1:c.A8G:p.E3G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.0666842640057	.	.	0.0002	0	0	0	0	0	0	0.0004	3.23e-05	5	154602	rs752460220	4.582e-05	4.583e-05	1.554e-05	7.693e-05	0.0008	3.672e-05	3.342e-05	0.0006	0.0006	0	0	0	0	0	0	0	1.727e-05	0.0008	6.581e-06	6.568e-06	0	1.348e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.004	0.65419	D	0.01	0.65728	D	0.0	0.02946	B	0.001	0.04355	B	0.009973	0.30121	N	0.230716	0.998701	0.21971	N	0.345	0.11182	N	1.42	0.33189	T	-2.09	0.47683	N	0.159	0.20925	-1.0462	0.15476	T	0.030	0.13111	T	10	0.05292791	0.05403	T	0.066684	0.69947	D	0.092	0.26621	0.185	0.09388	0.043077524339	0.03247	0.5966948057558407	0.59599	0.263852819548	0.28942	0.710019111633	0.68596	T	0.020375	0.16057	T	-0.458392	0.01006	T	-0.551286	0.17203	T	0.114572862119133	0.13891	T	0.554445	0.19192	T	0.1726201	0.37964	0.06868577	0.14378	0.1726201	0.37963	0.06868577	0.14377	-3.691	0.35294	T	.	.	0.102	0.18037	B	.;.	.;.	3.377811	0.46710	22.3	0.9847211419617109	0.41873	0.69696	0.34290	D	AEFDBCIJ	0.326865	0.42800	N	-0.729179870943886	0.15205	0.7642414	-0.589643035496924	0.19761	1.061773	0.999999626142716	0.74766	0.72623	0.87236	0	0.491552	0.07993	0	0.594344	0.31042	0	0.249971	0.05119	0	.	.	4.37	3.19	0.35720	2.003000	0.40464	7.173000	0.57731	-0.196000	0.09079	0.998000	0.41325	1.000000	0.68203	0.003000	0.05239	0.5991:0.1585:0.089:0.1533	2.252	0.03798	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	308.63	37	chr3	32238980	.	A	G	308.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.41;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-0.199;SOR=0.628	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1181	6	0	1	0
chr3	33865306	33865306	T	C	exonic	PDCD6IP	.	nonsynonymous SNV	PDCD6IP:NM_001162429:exon17:c.T2323C:p.S775P,PDCD6IP:NM_013374:exon17:c.T2308C:p.S770P	.	429	1079	13	1	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00384375306974	.	0.000599042	0.0005	9.899e-05	0	0	0	0.0001	0.0011	0.0031	0.000414	64	154602	rs571028506	0.0002	0.0002	0.0001	0.0003	0.0030	0.0002	0.0002	0.0021	0.0019	0	4.795e-05	0.0002	0	1.877e-05	0.0030	4.351e-05	0.0003	0.0023	0.0001	0.0001	0.0001	0.0002	0.0025	9.141e-05	7.698e-05	0.0014	0.0011	7.216e-05	0	0	0.0006	0	0	0	5.88e-05	0	0.0025	0.382	0.11120	T	0.456	0.12740	T	0.0	0.02946	B	0.0	0.01387	B	0.266625	0.15209	N	0.643694	1	0.08975	N	0.2	0.09183	N	3.11	0.08194	T	0.29	0.04161	N	0.097	0.07811	-0.9629	0.38625	T	0.008	0.02801	T	10	0.0035126805	0.00063	T	0.003844	0.08992	T	0.034	0.08419	.	.	0.117191471859	0.11215	0.19248375286468503	0.19166	0.121399189347	0.13675	0.367700874805	0.20502	T	0.003028	0.02432	T	-0.693563	0.00040	T	-0.773335	0.02660	T	0.00718645225803834	0.00082	T	0.522848	0.17081	T	0.07473212	0.16792	0.06384683	0.12709	0.07473212	0.16791	0.06384683	0.12709	-2.674	0.07919	T	.	.	0.076	0.07985	B	.;.	.;.	0.835638	0.12070	8.626	0.97265547640877059	0.33112	0.04462	0.10069	N	AEFBI	0.175873	0.30306	N	-1.19071029038422	0.05140	0.2336036	-1.16550537404407	0.06494	0.3127728	0.774140314662092	0.23723	0.744818	0.98587	0	0.724815	0.89359	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.64	-5.49	0.02381	-0.115000	0.10713	-1.073000	0.06414	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.0:0.4318:0.2456:0.3225	9.024	0.35380	511	0.75131	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.000000	0.001362	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	873.46	33	chr3	33865306	.	T	C	873.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.773;DP=250;ExcessHet=0;FS=0.846;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=1.3;SOR=0.561	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1042	6	0	1	0
chr3	37063779	37063779	C	T	exonic	LRRFIP2	.	nonsynonymous SNV	LRRFIP2:NM_001348311:exon10:c.G749A:p.R250Q,LRRFIP2:NM_017724:exon10:c.G749A:p.R250Q,LRRFIP2:NM_001134369:exon11:c.G821A:p.R274Q,LRRFIP2:NM_001348308:exon11:c.G851A:p.R284Q,LRRFIP2:NM_001348309:exon11:c.G851A:p.R284Q,LRRFIP2:NM_001348310:exon11:c.G821A:p.R274Q,LRRFIP2:NM_001348304:exon12:c.G944A:p.R315Q,LRRFIP2:NM_001348305:exon12:c.G923A:p.R308Q,LRRFIP2:NM_001348306:exon12:c.G923A:p.R308Q,LRRFIP2:NM_001348307:exon12:c.G923A:p.R308Q,LRRFIP2:NM_001348301:exon13:c.G1016A:p.R339Q,LRRFIP2:NM_001348302:exon13:c.G1016A:p.R339Q,LRRFIP2:NM_001348303:exon13:c.G953A:p.R318Q,LRRFIP2:NM_001348299:exon14:c.G1025A:p.R342Q,LRRFIP2:NM_001348300:exon14:c.G1025A:p.R342Q,LRRFIP2:NM_001282691:exon15:c.G1058A:p.R353Q,LRRFIP2:NM_001348298:exon18:c.G1199A:p.R400Q,LRRFIP2:NM_001348297:exon20:c.G1409A:p.R470Q,LRRFIP2:NM_006309:exon24:c.G1712A:p.R571Q	.	453	1067	1	1	0	3	0.00140384	.	.	.	4157389	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.228	0.0092805273927	.	.	1.649e-05	0	0	0	0	3e-05	0	0	1.29e-05	2	154602	rs762000660	1.371e-05	1.505e-05	1.365e-05	1.378e-05	0.0002	8.95e-06	7.28e-06	9.91e-06	3.89e-06	5.985e-05	2.236e-05	0	0	0	0.0002	9.916e-06	6.637e-05	1.161e-05	1.974e-05	1.971e-05	1.286e-05	2.694e-05	2.941e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	2.417e-05	0	0	0	0	0	0	2.941e-05	0	0	0.035	0.57480	D	0.11	0.49663	T	0.997	0.77913	D	0.752	0.76113	P	0.000004	0.62929	N	0.062536	1	0.81001	D	2.185	0.61350	M	0.97	0.42502	T	-2.19	0.56466	N	0.359	0.43417	-0.8694	0.50574	T	0.182	0.52919	T	10	0.32853478	0.50121	T	0.009281	0.24366	T	0.228	0.52768	0.581	0.70733	0.494031935134	0.49039	0.46406284681489607	0.46325	.	.	0.631773233414	0.57397	T	0.08551	0.37517	T	-0.182689	0.23336	T	-0.3199	0.42585	T	0.450912088155746	0.30830	T	0.914708	0.69569	D	0.31364712	0.54099	0.21462417	0.46019	0.31364712	0.54099	0.21462417	0.46018	-13.176	0.90074	D	.	.	0.079	0.18456	B	.;.;.;.;.	.;.;.;.;.	5.384091	0.90224	31	0.99945056506454322	0.99886	0.97556	0.75524	D	AEFBI	0.623917	0.60768	D	0.401325081284656	0.61497	4.351455	0.417913807119735	0.62682	4.48764	0.999976565533334	0.50053	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.63	4.76	0.60189	4.800000	0.62218	4.818000	0.45095	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9256:0.0:0.0744	13.591	0.61425	154	0.93967	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	99.44	33	chr3	37063779	.	C	T	99.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.842;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=2.19;SOR=1.022	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1089	6	0	1	0
chr3	37282200	37282200	C	A	exonic	GOLGA4	.	nonsynonymous SNV	GOLGA4:NM_002078:exon3:c.C405A:p.N135K,GOLGA4:NM_001172713:exon4:c.C471A:p.N157K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.0119737975296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.57480	D	0.123	0.49942	T	0.062	0.38060	B	0.039	0.35118	B	0.877804	0.08777	N	0.931136	0.983227	0.27909	N	0.55	0.14455	N	1.95	0.22474	T	-1.49	0.56945	N	0.57	0.59308	-1.0342	0.19109	T	0.031	0.13199	T	10	0.13744512	0.26145	T	0.011974	0.30115	T	0.052	0.14661	0.15	0.05339	0.279776271856	0.27574	0.13079940607180884	0.13004	0.118871765248	0.13383	0.313676714897	0.12462	T	0.084963	0.37395	T	-0.214744	0.18716	T	-0.546242	0.17689	T	0.40140238404274	0.28995	T	0.955704	0.85511	D	0.16793872	0.37220	0.10552887	0.25370	0.16793872	0.37220	0.10552887	0.25369	-5.657	0.44312	T	.	.	0.407	0.64559	A	.;.;.;.;.	.;.;.;.;.	3.169477	0.42975	21.6	0.99347122215174777	0.60412	0.88913	0.49076	D	AEFDGBI	0.354588	0.44661	N	-0.407615109159159	0.25201	1.366345	-0.237076527137239	0.30219	1.69959	0.999991460771833	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.71	2.42	0.28720	1.728000	0.37727	2.186000	0.31169	-0.313000	0.06017	0.989000	0.36753	0.980000	0.30356	0.988000	0.63387	0.0:0.7078:0.1275:0.1647	8.730	0.33657	281	0.88893	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	736.44	36	chr3	37282200	.	C	A	736.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.161;DP=264;ExcessHet=0;FS=4.642;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=-0.15;SOR=1.259	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr3	37329075	37329075	A	T	exonic	GOLGA4	.	nonsynonymous SNV	GOLGA4:NM_002078:exon16:c.A6174T:p.R2058S,GOLGA4:NM_001172713:exon17:c.A6240T:p.R2080S	.	455	1036	27	4	0	35	0.0166113	.	.	.	166001	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.103	.	0.0076	0.00938498	0.0070	0.0156	0.0036	0.0001	0.0002	0.0039	0.0090	0.0229	0.0066041	1021	154602	rs11924014	0.0056	0.0056	0.0049	0.0063	0.0344	0.0055	0.0054	0.0304	0.0289	0.0181	0.0038	0.0026	5.072e-05	0.0003	0.0344	0.0042	0.0061	0.0238	0.0079	0.0079	0.0078	0.0080	0.0224	0.0075	0.0074	0.0189	0.0177	0.0162	0	0.0063	0.0026	0.0004	0.0003	0.0374	0.0041	0.0076	0.0224	0.004	0.65419	D	0.006	0.70582	D	0.236	0.30770	B	0.11	0.31460	B	0.001272	0.39594	N	0.000000	0.936566	0.81001	D	2.045	0.56016	M	1.72	0.26588	T	-2.48	0.54059	N	0.445	0.48319	-1.0659	0.10339	T	0.038	0.16246	T	10	0.006607026	0.00150	T	.	.	.	0.103	0.29403	0.112	0.02175	0.346992582518	0.34303	0.341532120676236	0.34066	0.120382308291	0.13557	0.363515198231	0.19897	T	0.165586	0.51149	T	-0.498331	0.00584	T	-0.470341	0.25479	T	0.0281765396883818	0.01713	T	0.928407	0.73561	D	0.18168189	0.39350	0.18456519	0.41516	0.18168189	0.39350	0.18456519	0.41516	-3.646	0.20387	T	.	.	0.486	0.66824	A	.;.;.	.;.;.	3.224906	0.43955	21.8	0.98689621179436293	0.44738	0.92446	0.55731	D	AEFBI	0.554194	0.56514	D	-0.04092981129833	0.40009	2.368753	0.0529901764038133	0.42217	2.549674	0.999893492540626	0.45129	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.7	5.7	0.88690	2.706000	0.46803	8.014000	0.76202	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.731000	0.35132	0.928:0.0:0.072:0.0	11.071	0.47220	227	0.91186	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.033300	0.010204	0.046322	0.073099	0.000000	0.034483	0.006098	0.015152	0.1429	1913.27	30	chr3	37329075	.	A	T	1913.27	.	AC=2;AF=0.143;AN=14;DP=235;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=28.56;SOR=0.99	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1000	6	1	0	0
chr3	37355187	37355187	G	A	exonic	GOLGA4	.	nonsynonymous SNV	GOLGA4:NM_001172713:exon22:c.G6708A:p.M2236I,GOLGA4:NM_002078:exon22:c.G6663A:p.M2221I	.	436	1082	4	0	0	4	0.00184502	0.9998	0.908	.	3203935	GOLGA4-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.065	.	0.0013	0.000599042	0.0015	0.0002	0.0009	0.0001	0.0009	0.0019	0.0022	0.0022	0.0015588	241	154602	rs148417077	0.0019	0.0020	0.0018	0.0019	0.0034	0.0018	0.0018	0.0022	0.0020	9.442e-05	0.0011	0.0002	2.547e-05	0.0007	0.0034	0.0021	0.0013	0.0024	0.0014	0.0014	0.0015	0.0012	0.0022	0.0012	0.0012	0.0019	0.0018	0.0005	0	0.0016	0	0	0.0002	0	0.0022	0.0028	0.0015	0.054	0.38633	T	0.13	0.34716	T	0.02	0.18235	B	0.009	0.14300	B	0.067457	0.21740	N	0.334801	0.998718	0.81001	D	1.61	0.41143	L	1.99	0.21865	T	-1.0	0.26422	N	0.306	0.34552	-1.0957	0.04653	T	0.055	0.23110	T	10	0.011218518	0.00256	T	0.007818	0.20747	T	0.065	0.18881	0.315	0.29096	0.0986583533028	0.09354	0.20167123621722574	0.20084	0.0930299432261	0.10505	0.339009284973	0.16289	T	0.049613	0.28356	T	-0.494446	0.00614	T	-0.488252	0.23574	T	0.0165429669009522	0.00417	T	0.725427	0.33942	T	0.30865234	0.53669	0.34196788	0.59929	0.30865234	0.53669	0.34196788	0.59928	-3.311	0.15232	T	.	.	0.349	0.56644	A	.;.;.	.;.;.	4.557567	0.71787	25.7	0.99245925747938823	0.56695	0.95913	0.66695	D	AEFBI	0.815559	0.73751	D	0.00853807020373336	0.42243	2.541583	0.204635807144295	0.50104	3.206023	0.999999999592792	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	4.426000	0.59629	9.953000	0.82742	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.109	0.97902	224	0.91330	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.002717	0.000000	0.000000	0.000000	0.015244	0.000000	0.07143	622.46	35	chr3	37355187	.	G	A	622.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.16;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.73;ReadPosRankSum=-0.514;SOR=0.784	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1274	6	0	1	0
chr3	37417585	37417585	G	T	exonic	C3orf35	.	nonsynonymous SNV	C3orf35:NM_178344:exon4:c.G319T:p.G107C,C3orf35:NM_001302831:exon5:c.G319T:p.G107C,C3orf35:NM_001302832:exon5:c.G319T:p.G107C,C3orf35:NM_178342:exon5:c.G319T:p.G107C	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00259167471221	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1277954231	1.711e-06	2.052e-06	0	3.478e-06	2.551e-05	2.8e-07	1.1e-07	4.23e-06	1.59e-06	0	0	0	0	0	0	0	0	2.551e-05	6.57e-06	6.563e-06	0	1.344e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	847.63	34	chr3	37417585	.	G	T	847.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.661;DP=270;ExcessHet=0;FS=2.741;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=-0.395;SOR=1	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1079	6	0	1	0
chr3	38122376	38122376	C	T	exonic	DLEC1	.	nonsynonymous SNV	DLEC1:NM_007337:exon36:c.C5108T:p.P1703L	Esophageal cancer, Autosomal dominant;Lung cancer, Autosomal recessive	9	1499	14	0	0	14	0.00464807	.	.	.	2395039	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.054	0.0247226744546	0.0004	0.000599042	0.0007	0	0.0013	0	0	0.0008	0.0022	0.0007	0.0007244	112	154602	rs190570989	0.0006	0.0006	0.0006	0.0007	0.0055	0.0006	0.0006	0.0040	0.0035	5.974e-05	0.0012	0.0021	0	0	0.0055	0.0006	0.0010	0.0010	0.0008	0.0008	0.0008	0.0009	0.0016	0.0007	0.0007	0.0011	0.0010	9.629e-05	0.0340	0.0016	0.0026	0.0002	0	0.0102	0.0007	0.0009	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.431634	0.04707	N	1.479730	1	0.81001	D	.	.	.	3.39	0.05710	T	-0.8	0.22078	N	0.149	0.15187	-0.8513	0.51878	T	0.006	0.02093	T	9	0.0025693178	0.00039	T	0.024723	0.47706	T	0.054	0.15330	.	.	0.225902525712	0.22197	.	.	.	.	0.236817792058	0.02510	T	.	.	.	-0.466795	0.00890	T	-0.493736	0.22999	T	0.0173109384313287	0.00471	T	0.370463	0.08742	T	.	.	.	.	.	.	.	.	-3.195	0.12419	T	.	.	0.078	0.07036	B	.	.	-0.455809	0.02013	0.179	0.8672686767341371	0.16731	0.04633	0.10299	N	AEFDBCI	0.021723	0.01000	N	-1.32448913178581	0.03397	0.1516656	-1.34473369737358	0.03868	0.1813221	0.999820810359557	0.43622	0.372202	0.05800	0	0.379588	0.06130	0	0.463624	0.06942	0	0.714379	0.83352	0	.	.	4.86	-4.02	0.03764	-2.868000	0.00791	-8.131000	0.01023	-0.140000	0.12423	0.000000	0.06391	0.000000	0.08366	0.870000	0.41412	0.3094:0.2991:0.1095:0.2821	0.950	0.01287	553	0.71930	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.007049	0.000000	0.006793	0.011696	0.000000	0.000000	0.012195	0.007576	0.07143	455.46	33	chr3	38122376	.	C	T	455.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.633;DP=228;ExcessHet=0;FS=4.029;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=2.08;SOR=1.292	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr3	38138731	38138731	G	A	exonic	MYD88	.	nonsynonymous SNV	MYD88:NM_001172566:exon1:c.G31A:p.A11T,MYD88:NM_001172567:exon1:c.G31A:p.A11T,MYD88:NM_001172568:exon1:c.G31A:p.A11T,MYD88:NM_001172569:exon1:c.G31A:p.A11T,MYD88:NM_001365876:exon1:c.G31A:p.A11T,MYD88:NM_001365877:exon1:c.G31A:p.A11T,MYD88:NM_001374787:exon1:c.G31A:p.A11T,MYD88:NM_002468:exon1:c.G31A:p.A11T	Macroglobulinemia, Waldenstrom, somatic;Pyogenic bacterial infections, recurrent, due to MYD88 deficiency	.	.	.	.	.	.	.	.	.	.	1889489	Pyogenic_bacterial_infections_due_to_MyD88_deficiency	MONDO:MONDO:0012839,MedGen:C2677092,OMIM:612260,Orphanet:183713	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.0303322237056	.	.	8.996e-06	0	0	0	0	1.661e-05	0	0	1.29e-05	2	154602	rs768025686	9.624e-06	9.577e-06	6.829e-06	1.246e-05	0.0003	5.59e-06	4.37e-06	6.121e-05	2.532e-05	0	0	0	0	0	0.0003	9.93e-06	1.663e-05	0	1.314e-05	1.313e-05	0	2.689e-05	.	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	0	0.0005	0	0.085	0.41096	T	0.504	0.57104	T	0.003	0.12996	B	0.001	0.08700	B	0.254439	0.03668	N	1.544760	1	0.08975	N	2.215	0.62545	M	0.29	0.58897	T	-0.91	0.26843	N	0.106	0.09066	-1.0216	0.23195	T	0.176	0.52084	T	10	0.065250576	0.08776	T	0.030332	0.52661	D	0.053	0.14996	0.12	0.02719	0.487670455057	0.48399	.	.	1.0665472346	0.76640	0.623630702496	0.56242	T	0.016631	0.41682	T	-0.21703	0.18401	T	-0.549525	0.17372	T	0.123189359903336	0.14739	T	0.594241	0.21993	T	0.017099073	0.00246	0.044823907	0.05893	0.017099073	0.00245	0.044823907	0.05892	-5.001	0.36851	T	.	.	0.081	0.10208	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.919264	0.12937	9.449	0.98197280065760839	0.39088	0.63949	0.32250	D	ALL	0.117443	0.23007	N	-0.839685246701166	0.12304	0.5989521	-0.906049405217592	0.11950	0.6119838	0.999999999998919	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	3.94	2.1	0.26226	1.132000	0.31031	0.033000	0.13759	0.676000	0.76740	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	0.2596:0.0:0.7404:0.0	5.62	0.16731	553	0.71930	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	718.46	36	chr3	38138731	.	G	A	718.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.471;DP=259;ExcessHet=0;FS=4.47;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=-0.612;SOR=1.223	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1011	6	0	1	0
chr3	38140571	38140571	T	C	exonic	MYD88	.	nonsynonymous SNV	MYD88:NM_001172567:exon3:c.T647C:p.L216S	Macroglobulinemia, Waldenstrom, somatic;Pyogenic bacterial infections, recurrent, due to MYD88 deficiency	0	1502	19	1	0	21	0.00694215	.	.	.	730212	Pyogenic_bacterial_infections_due_to_MyD88_deficiency	MONDO:MONDO:0012839,MedGen:C2677092,OMIM:612260,Orphanet:183713	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.045	0.019768446899	0.0003	0.00179712	0.0012	0	0.0002	0	0	0.0006	0.0044	0.0063	0.0010996	170	154602	rs148149492	0.0008	0.0008	0.0006	0.0010	0.0067	0.0008	0.0008	0.0062	0.0061	2.987e-05	0.0004	0.0010	0	0	0.0029	0.0005	0.0008	0.0067	0.0007	0.0007	0.0006	0.0008	0.0075	0.0006	0.0005	0.0055	0.0049	7.216e-05	0	0.0016	0.0012	0	0	0	0.0005	0.0009	0.0075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-0.9698	0.37242	T	0.013	0.05225	T	7	0.0047159493	0.00099	T	0.019768	0.42216	T	0.045	0.12272	.	.	0.257342827899	0.25358	.	.	.	.	0.438946783543	0.30432	T	.	.	.	-0.64172	0.00081	T	-0.691256	0.06317	T	0.0144193639081149	0.00291	T	0.288571	0.05217	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.467425	0.18910	13.99	0.9776812543240152	0.35850	0.08841	0.14709	N	AEFBCI	0.070243	0.13937	N	-0.624122582198243	0.18221	0.9442835	-0.694776229785044	0.17090	0.9071855	0.999581363395125	0.40607	0.627647	0.40530	0	0.672317	0.65289	0	0.596874	0.31795	0	0.491896	0.07777	0	.	.	5.08	-0.0251	0.13262	-0.404000	0.07267	0.031000	0.13732	0.665000	0.62972	0.001000	0.13787	0.962000	0.29361	0.929000	0.46594	0.2692:0.0876:0.3493:0.2939	1.489	0.02305	561	0.71236	Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.011364	0.07143	1472.63	35	chr3	38140571	.	T	C	1472.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.459;DP=292;ExcessHet=0;FS=0.711;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.687;SOR=0.797	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1411	6	0	1	0
chr3	38707286	38707286	C	T	exonic	SCN10A	.	nonsynonymous SNV	SCN10A:NM_001293307:exon24:c.G4085A:p.R1362Q,SCN10A:NM_001293306:exon25:c.G4376A:p.R1459Q,SCN10A:NM_006514:exon25:c.G4379A:p.R1460Q	Episodic pain syndrome, familial, 2, Autosomal dominant	7	1511	4	0	0	4	0.00132188	.	.	.	393571	not_provided|Brugada_syndrome|SCN10A-related_disorder|Cardiovascular_phenotype	MedGen:C3661900|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|.|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.838	.	7.7e-05	0.00199681	0.0010	0	0	0	0	4.5e-05	0	0.0071	0.0008409	130	154602	rs369399424	0.0005	0.0005	0.0003	0.0007	0.0075	0.0005	0.0004	0.0070	0.0068	0	0	0	2.519e-05	0	0.0012	1.889e-05	0.0007	0.0075	0.0002	0.0002	0.0001	0.0003	0.0068	0.0002	0.0001	0.0050	0.0044	0	0	0	0.0003	0	0	0	1.47e-05	0	0.0068	0.0	0.91255	D	0.014	0.62352	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.99974	0.48716	D	4.13	0.97473	H	-3.94	0.96143	D	-3.84	0.72240	D	0.62	0.63544	1.094	0.99390	D	0.959	0.98680	D	10	0.013541609	0.00287	T	.	.	.	0.838	0.94914	.	.	0.865298002018	0.86399	0.6739338251667473	0.67331	0.350731744755	0.36920	0.645585298538	0.59358	T	0.605675	0.87427	D	0.0298524	0.55704	T	0.275091	0.86856	D	0.222073244220377	0.21567	T	0.989645	0.96613	D	0.8100671	0.84558	0.69341147	0.81953	0.8455626	0.87011	0.7288829	0.83983	-9.596	0.71455	D	.	.	0.427	0.67315	A	.;.;.;.	.;.;.;.	4.820940	0.78525	26.9	0.9994893657404067	0.99931	0.98888	0.88198	D	AEFBI	0.895854	0.83631	D	1.03692380619261	0.96772	15.12291	0.921798411574668	0.96455	14.71647	0.999999999681258	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	5.16	5.16	0.70563	7.858000	0.85341	7.734000	0.67822	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	0.0:1.0:0.0:0.0	18.847	0.92181	809	0.43032	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003532	0.000000	0.002717	0.008876	0.000000	0.000000	0.000000	0.000000	0.08333	512.27	28	chr3	38707286	.	C	T	512.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.02;DP=207;ExcessHet=0;FS=2.78;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=0.268;SOR=0.735	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1072	5	0	1	1
chr3	39101071	39101071	G	A	exonic	GORASP1	.	nonsynonymous SNV	GORASP1:NM_001278789:exon2:c.C95T:p.A32V,GORASP1:NM_001278790:exon2:c.C95T:p.A32V,GORASP1:NM_031899:exon4:c.C380T:p.A127V	.	416	1092	14	0	0	14	0.00636943	.	.	.	2827273	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.526	0.0686469416642	0.0043	0.00199681	0.0055	0.0013	0.0032	0	0.0039	0.0084	0.0056	0.0015	0.0055627	860	154602	rs61743223	0.0058	0.0058	0.0058	0.0058	0.0078	0.0057	0.0056	0.0065	0.0065	0.0006	0.0037	0.0065	2.519e-05	0.0046	0.0078	0.0066	0.0046	0.0016	0.0043	0.0043	0.0045	0.0041	0.0069	0.0041	0.0040	0.0063	0.0061	0.0011	0.0110	0.0030	0.0089	0	0.0038	0.0068	0.0069	0.0071	0.0010	0.001	0.78490	D	0.006	0.74150	D	0.998	0.90584	D	0.978	0.84481	D	0.000002	0.62929	D	0.099404	1	0.81001	D	3.575	0.93507	H	1.09	0.67011	T	-3.9	0.73788	D	0.861	0.87049	0.174	0.85466	D	0.467	0.79427	T	10	0.016513765	0.00348	T	0.068647	0.70508	D	0.526	0.79947	.	.	0.78019012614	0.77816	0.8234265704893947	0.82299	0.451247227632	0.44877	0.652100801468	0.60284	T	0.296374	0.79933	T	0.026475	0.55251	T	0.274648	0.86829	D	0.060574304240651	0.07258	T	0.992867	0.97673	D	0.7968173	0.83703	0.6958277	0.82091	0.7968173	0.83704	0.6958277	0.82092	-9.443	0.70504	D	.	.	0.875	0.82966	P	.;.;.;.;.	.;.;.;.;.	4.764593	0.77065	26.6	0.99922181327377657	0.98852	0.96283	0.68385	D	AEFDGBCI	0.930240	0.91724	D	0.672706016409155	0.77845	6.753676	0.521857658585025	0.69463	5.364013	0.999999998827916	0.74766	0.758104	0.99027	0	0.697927	0.68747	0	0.691618	0.62860	0	0.714379	0.83352	0	.	.	4.99	4.99	0.65942	7.861000	0.85420	11.726000	0.94905	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.170000	0.20979	0.0:0.139:0.861:0.0	15.43	0.74810	359	0.84979	GRASP55/65 PDZ-like domain;.;GRASP55/65 PDZ-like domain;GRASP55/65 PDZ-like domain;GRASP55/65 PDZ-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.000000	0.015244	0.000000	0.07143	146.44	34	chr3	39101071	.	G	A	146.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.465;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.92;ReadPosRankSum=0.366;SOR=0.527	GT:AD:DP:GQ:PL	0/0:78,0:78:99:0,120,1800	6	0	1	0
chr3	39129135	39129135	C	T	exonic	TTC21A	.	nonsynonymous SNV	TTC21A:NM_001105513:exon14:c.C1837T:p.R613C,TTC21A:NM_001366899:exon15:c.C1984T:p.R662C,TTC21A:NM_001366900:exon15:c.C1960T:p.R654C,TTC21A:NM_145755:exon15:c.C1981T:p.R661C	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0671804096706	7.8e-05	0.000998403	0.0013	0.0001	0.0003	0	0	0	0.0011	0.0091	0.0010802	167	154602	rs372202475	0.0005	0.0005	0.0003	0.0008	0.0082	0.0005	0.0005	0.0077	0.0075	0.0001	0.0002	0	5.038e-05	0	0.0002	3.058e-05	0.0007	0.0082	0.0003	0.0003	0.0002	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0004	0	0.0001	0	0.0002	0	0	8.819e-05	0.0005	0.0054	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.877	0.70482	P	0.000699	0.42383	D	0.168035	0.999992	0.58761	D	3.34	0.90961	M	-0.22	0.77078	T	-7.53	0.95131	D	0.388	0.50056	0.351	0.88350	D	0.638	0.87332	D	10	0.012371153	0.00266	T	0.06718	0.70092	D	0.557	0.81774	.	.	0.890942997141	0.88986	0.7064300925967112	0.70585	0.19554568739	0.21894	0.346404850483	0.17391	T	0.245668	0.61500	T	-0.122845	0.32661	T	0.0575875	0.74084	D	0.14899817979578	0.17023	T	0.946705	0.80130	D	0.5254341	0.68571	0.3700217	0.62260	0.5254341	0.68572	0.3700217	0.62260	-8.913	0.69475	D	.	.	0.124	0.34049	B	.;.	.;.	3.889231	0.56581	23.8	0.99935406575128494	0.99579	0.90005	0.50852	D	AEFBI	0.559389	0.56822	D	0.519537342973635	0.68245	5.190799	0.426414833007792	0.63217	4.55103	0.99999851061257	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.85	4.96	0.65153	2.518000	0.45198	2.190000	0.31200	0.599000	0.40250	1.000000	0.71638	0.978000	0.30204	0.302000	0.24547	0.296:0.704:0.0:0.0	12.879	0.57393	363	0.84772	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	2326.63	38	chr3	39129135	.	C	T	2326.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.37;DP=368;ExcessHet=0;FS=4.252;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-0.796;SOR=0.753	GT:AD:DP:GQ:PL	0/1:97,87:184:99:2337,0,2399	6	0	1	0
chr3	40482000	40482000	A	G	exonic	ZNF619	.	nonsynonymous SNV	ZNF619:NM_001145094:exon3:c.A64G:p.K22E,ZNF619:NM_173656:exon3:c.A64G:p.K22E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.000888137521725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.904e-07	1.368e-06	0	1.388e-06	9.03e-07	0	0	.	.	0	0	0	0	0	0	9.03e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.053	0.47336	T	0.98	0.59353	D	0.968	0.71741	D	.	.	.	.	1	0.08975	N	.	.	.	3.18	0.07478	T	0.06	0.06253	N	0.419	0.47765	-1.0008	0.29688	T	0.031	0.13286	T	8	0.24244899	0.41441	T	8.88E-4	0.00822	T	0.040	0.10527	0.376	0.38994	0.478680857624	0.47498	.	.	.	.	.	.	.	0.006936	0.08179	T	-0.160174	0.26733	T	-0.467856	0.25746	T	0.134536677611612	0.15794	T	0.370863	0.08760	T	0.14426468	0.33121	0.17960615	0.40706	0.14426468	0.33120	0.17960615	0.40705	-3.131	0.11656	T	.	.	0.126	0.47195	B	.;.;.	.;.;.	0.316296	0.06913	3.451	0.98497228723182728	0.42168	0.01695	0.05397	N	AEFDBCI	0.015957	0.00331	N	-0.350464413073697	0.27255	1.493893	-0.562927166290726	0.20462	1.102597	0.0853517352131863	0.15979	0.556989	0.30585	1	0.487994	0.07600	2	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.17	-0.975	0.09764	-0.318000	0.08091	-7.890000	0.01067	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.550000	0.30174	0.4828:0.0:0.2832:0.234	2.149	0.03563	626	0.65439	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	120.55	34	chr3	40482000	.	A	G	120.55	.	AC=2;AF=0.143;AN=14;DP=212;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=24.11;SOR=1.022	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1153	6	1	0	0
chr3	40532065	40532065	A	G	exonic	ZNF621	.	nonsynonymous SNV	ZNF621:NM_001098414:exon5:c.A295G:p.I99V,ZNF621:NM_001287245:exon5:c.A295G:p.I99V,ZNF621:NM_198484:exon5:c.A295G:p.I99V	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	7.7e-05	0.0111821	0.0047	0.0003	0.0008	0.0399	0	0.0003	0.0044	0.0115	0.0044695	691	154602	rs117655885	0.0019	0.0019	0.0016	0.0022	0.0307	0.0019	0.0018	0.0293	0.0287	0.0003	0.0006	0.0010	0.0307	0	0.0028	0.0002	0.0048	0.0120	0.0024	0.0024	0.0019	0.0029	0.0403	0.0022	0.0021	0.0358	0.0341	0.0003	0	0.0028	0.0006	0.0403	0	0.0170	0.0001	0.0038	0.0149	0.791	0.03192	T	0.891	0.17064	T	0.0	0.02946	B	0.0	0.01387	B	0.746740	0.06460	N	1.172110	1	0.08975	N	-0.805	0.01590	N	3.39	0.05710	T	0.06	0.06253	N	0.012	0.01825	-0.9631	0.38586	T	0.001	0.00222	T	10	0.0025477111	0.00039	T	.	.	.	0.041	0.10877	.	.	0.137902524267	0.13322	0.03507344767459971	0.03454	0.148275166982	0.16716	0.276525080204	0.07013	T	0.023225	0.17768	T	-0.731706	0.00023	T	-0.791687	0.02118	T	0.00514330044169587	0.00056	T	0.340966	0.07383	T	0.014015514	0.00078	0.020477906	0.00138	0.014015514	0.00078	0.020477906	0.00138	-4.008	0.23923	T	.	.	0.086	0.10931	B	.;.;.;.	.;.;.;.	-0.627658	0.01498	0.094	0.4971753606364423	0.04258	0.03639	0.08887	N	AEBCI	0.019721	0.00711	N	-1.53709919426345	0.01611	0.07043569	-1.55740513545423	0.01925	0.08784739	0.760337092203796	0.23500	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.75	-6.82	0.01537	-1.871000	0.01732	-0.361000	0.09674	0.750000	0.87069	0.000000	0.06391	0.000000	0.08366	0.942000	0.48361	0.2831:0.1295:0.3306:0.2568	0.863	0.01121	744	0.52588	.;.;.;.	.	.	.	.	rs117655885	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008056	0.020202	0.006793	0.002924	0.000000	0.000000	0.003049	0.007576	0.07143	982.83	34	chr3	40532065	.	A	G	982.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.764;DP=261;ExcessHet=0;FS=3.141;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-2.134;SOR=0.364	GT:AD:DP:GQ:PL	0/1:41,41:82:99:993,0,1090	6	0	1	0
chr3	40532503	40532503	C	T	exonic	ZNF621	.	nonsynonymous SNV	ZNF621:NM_001098414:exon5:c.C733T:p.R245C,ZNF621:NM_198484:exon5:c.C733T:p.R245C	.	409	1111	1	1	0	3	0.00134831	.	.	.	2450718	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.093	0.0105764233372	7.7e-05	.	5.776e-05	0	0	0	0	3e-05	0	0.0003	4.53e-05	7	154602	rs144763141	3.352e-05	3.352e-05	2.45e-05	4.263e-05	0.0003	2.566e-05	2.312e-05	0.0002	0.0001	2.987e-05	0	0	2.519e-05	1.872e-05	0.0003	1.888e-05	1.656e-05	0.0003	1.974e-05	1.971e-05	2.572e-05	1.348e-05	2.942e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	2.418e-05	0	0	0	0	0	0	2.942e-05	0	0	0.058	0.40832	T	0.114	0.43721	T	0.999	0.77913	D	0.892	0.63276	P	0.038765	0.24247	N	0.206892	1	0.81001	D	1.055	0.26876	L	2.21	0.18414	T	-2.67	0.57110	D	0.148	0.42834	-1.1430	0.01250	T	0.065	0.26983	T	10	0.08038193	0.13041	T	0.010576	0.27281	T	0.093	0.26882	.	.	0.346768085243	0.34289	0.08950968589840287	0.08883	0.24933086748	0.27507	0.516411542892	0.41121	T	0.073298	0.34664	T	-0.403261	0.02204	T	-0.52084	0.20210	T	0.0532964683713713	0.06069	T	0.420158	0.11156	T	0.06895996	0.15067	0.07500313	0.16467	0.06895996	0.15067	0.07500313	0.16466	-7.468	0.57385	T	.	.	0.478	0.63576	A	.;.;.	.;.;.	2.119494	0.26979	17.30	0.92877576589522604	0.22425	0.40359	0.26419	N	AEFBHCI	0.102554	0.20570	N	-0.528349940173134	0.21168	1.121397	-0.585437123013457	0.19873	1.068174	0.0115751362791685	0.12205	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.94	3.06	0.34374	-1.372000	0.02677	-8.140000	0.01021	-1.917000	0.00510	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.8967:0.0:0.1033	9.892	0.40463	744	0.52588	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1002.63	34	chr3	40532503	.	C	T	1002.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.41;DP=272;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=-0.199;SOR=0.715	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	6	0	1	0
chr3	41566092	41566092	A	C	exonic	ULK4	.	nonsynonymous SNV	ULK4:NM_001322501:exon31:c.T2253G:p.S751R,ULK4:NM_001322500:exon32:c.T3159G:p.S1053R,ULK4:NM_017886:exon32:c.T3159G:p.S1053R	.	434	1087	0	1	0	2	0.000919118	.	.	.	2727939	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.285	0.0266668745692	8.3e-05	.	0.0002	0	0	0	0	6.001e-05	0	0.0010	0.0001617	25	154602	rs373580662	0.0001	0.0001	8.985e-05	0.0002	0.0012	0.0001	0.0001	0.0010	0.0009	0	0	3.827e-05	0	0	0.0002	7.464e-05	6.624e-05	0.0012	7.234e-05	7.224e-05	6.427e-05	8.08e-05	0.0012	3.975e-05	3.13e-05	0.0005	0.0004	2.416e-05	0	0	0	0	0	0	5.881e-05	0	0.0012	0.054	0.38633	T	0.037	0.51737	D	0.93	0.51791	P	0.289	0.40655	B	0.037904	0.24345	U	0.235256	0.582295	0.31089	N	1.5	0.37844	L	-0.23	0.66652	T	-1.87	0.43717	N	0.8	0.79599	-0.8472	0.52161	T	0.184	0.53315	T	10	0.37523693	0.53781	T	0.026667	0.49557	D	0.285	0.60338	0.477	0.55502	0.797509459143	0.79561	0.4926775003027562	0.49188	0.179949505686	0.20241	0.561289012432	0.47449	T	0.006335	0.05765	T	-0.203925	0.20240	T	-0.111252	0.62512	T	0.142454724937689	0.16484	T	0.845515	0.52437	T	0.1571472	0.35426	0.21256165	0.45731	0.1571472	0.35425	0.21256165	0.45730	-8.514	0.64522	D	.	.	0.861	0.80338	P	.	.	2.586571	0.33543	19.37	0.99366892230257486	0.61240	0.89359	0.49776	D	AEFDGI	0.362248	0.45157	N	0.119022287977668	0.47350	2.96197	0.151419670722463	0.47217	2.955319	0.137308983028279	0.17206	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.836244	0.99985	0	.	.	5.42	3.05	0.34272	2.283000	0.43131	0.605000	0.19970	0.756000	0.94297	1.000000	0.71638	0.904000	0.28019	0.997000	0.79791	0.8538:0.0:0.1462:0.0	9.349	0.37291	825	0.40060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	345.63	50	chr3	41566092	.	A	C	345.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.38;DP=228;ExcessHet=0;FS=2.524;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.91;ReadPosRankSum=0.963;SOR=1.023	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1307	6	0	1	0
chr3	41705058	41705058	G	A	exonic	ULK4	.	nonsynonymous SNV	ULK4:NM_001322501:exon26:c.C1874T:p.T625M,ULK4:NM_001322500:exon27:c.C2780T:p.T927M,ULK4:NM_017886:exon27:c.C2780T:p.T927M	.	462	1052	7	1	0	9	0.00425935	0.9195	0.618	.	2366137	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.211	0.0271901580581	0.0003	0.000399361	0.0005	0	0	0	0.0002	0.0007	0	0.0007	0.000401	62	154602	rs201639701	0.0004	0.0004	0.0004	0.0004	0.0046	0.0004	0.0004	0.0032	0.0028	3.019e-05	6.889e-05	0	0	0.0001	0.0046	0.0004	0.0004	0.0012	0.0002	0.0002	0.0002	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	4.815e-05	0	6.536e-05	0	0	0.0004	0.0102	0.0002	0.0014	0.0017	0.038	0.42783	D	0.118	0.36233	T	0.992	0.64738	D	0.687	0.53665	P	0.114653	0.19267	U	0.452872	0.999894	0.50595	D	1.04	0.26193	L	-0.18	0.65747	T	-1.35	0.33598	N	0.675	0.68255	-0.5427	0.67062	T	0.255	0.62575	T	10	0.21222398	0.37675	T	0.02719	0.50027	D	0.211	0.50185	.	.	0.787557877294	0.78558	0.6274790581813261	0.62680	0.12484797569	0.14065	0.532669663429	0.43410	T	0.006138	0.05579	T	-0.218333	0.18221	T	-0.161811	0.58188	T	0.0873838773337145	0.10904	T	0.833117	0.50161	T	0.07644654	0.17289	0.14198221	0.33794	0.07644654	0.17288	0.14198221	0.33793	-4.293	0.28079	T	.	.	0.105	0.19073	B	.	.	5.145103	0.86152	28.8	0.99769695853680596	0.85750	0.97217	0.73382	D	AEFBI	0.734429	0.68056	D	0.418418943431622	0.62436	4.459353	0.418608260642314	0.62723	4.492773	0.990330232118494	0.32118	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.12	5.12	0.69459	7.233000	0.77589	8.450000	0.77217	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:1.0:0.0	18.558	0.91046	829	0.39537	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	380.49	9	chr3	41705058	.	G	A	380.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.932;DP=153;ExcessHet=0;FS=1.603;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=-2.068;SOR=0.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:30,0:30:90:.:.:0,90,903:.	6	0	1	0
chr3	41754391	41754391	C	G	exonic	ULK4	.	nonsynonymous SNV	ULK4:NM_001322501:exon21:c.G1385C:p.R462P,ULK4:NM_001322500:exon22:c.G2291C:p.R764P,ULK4:NM_017886:exon22:c.G2291C:p.R764P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0209990958312	.	.	8.296e-06	0	0	0	0	0	0	6.072e-05	6.5e-06	1	154602	rs769852192	2.739e-06	2.736e-06	1.362e-06	4.13e-06	0.0003	6.4e-07	4.3e-07	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	0	1.657e-05	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.15561	T	0.293	0.20811	T	0.011	0.15914	B	0.011	0.15521	B	0.012665	0.29095	U	0.299368	0.669586	0.30376	N	1.79	0.46772	L	0.6	0.53731	T	-1.79	0.42191	N	0.638	0.65074	-1.0690	0.09634	T	0.101	0.37468	T	10	0.5488592	0.64140	D	0.020999	0.43698	T	0.205	0.49236	0.634	0.77032	0.420080204436	0.41628	0.631771778815263	0.63111	0.0456806916263	0.04958	0.219113022089	0.01259	T	0.006699	0.06126	T	-0.091954	0.37752	T	-0.269232	0.47897	T	0.375071376562119	0.27993	T	0.80392	0.45144	T	0.38114637	0.59399	0.3736809	0.62550	0.38114637	0.59399	0.3736809	0.62550	-8.925	0.67213	D	.	.	0.168	0.36966	B	.	.	1.627208	0.20777	14.91	0.96723888732433372	0.30858	0.46743	0.27828	N	AEFI	0.362453	0.45170	N	-0.641926205349217	0.17695	0.9127721	-0.52408246341318	0.21501	1.163363	1.77810844576438E-4	0.05786	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.3	2.34	0.28071	0.977000	0.29072	1.399000	0.26181	-0.182000	0.10109	0.658000	0.28243	0.885000	0.27754	0.914000	0.44937	0.0:0.4229:0.0:0.5771	7.217	0.25143	706	0.57215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	223.63	23	chr3	41754391	.	C	G	223.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.099;DP=160;ExcessHet=0;FS=1.744;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=-0.248;SOR=1.402	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1049	6	0	1	0
chr3	41819493	41819493	T	-	exonic	ULK4	.	frameshift deletion	ULK4:NM_001322501:exon18:c.872delA:p.K291Rfs*17,ULK4:NM_001322500:exon19:c.1778delA:p.K593Rfs*17,ULK4:NM_017886:exon19:c.1778delA:p.K593Rfs*17	.	441	1045	36	0	0	36	0.0169332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0073	0.0049	0.0045	0.0059	0.0010	0.0096	0.0085	0.0049	0.0004226	11	26028	rs752712052	0.0006	0.0094	0.0006	0.0006	0.0034	0.0006	0.0006	0.0030	0.0028	0.0016	0.0034	0.0010	0.0002	0.0017	0.0012	0.0003	0.0006	0.0025	4.174e-05	0.0002	2.707e-05	5.726e-05	4.501e-05	1.799e-05	1.184e-05	1.195e-05	6.31e-06	2.745e-05	0	0	0	0	0.0002	0	4.501e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	32.23	27	chr3	41819492	.	CT	C	32.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.859;DP=211;ExcessHet=0;FS=1.524;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.61;ReadPosRankSum=-0.105;SOR=0.879	GT:AD:DP:GQ:PL	0/1:46,7:53:42:42,0,1136	5	0	1	1
chr3	41883918	41883918	C	T	exonic	ULK4	.	nonsynonymous SNV	ULK4:NM_001322501:exon16:c.G706A:p.A236T,ULK4:NM_001322500:exon17:c.G1612A:p.A538T,ULK4:NM_017886:exon17:c.G1612A:p.A538T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.0573237814916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.68238	D	0.004	0.74150	D	1.0	0.90584	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	0.870001	0.35545	D	2.7	0.79018	M	-0.35	0.68616	T	-2.35	0.54702	N	0.515	0.54584	-0.1924	0.77867	T	0.411	0.75943	T	10	0.51086336	0.62088	D	0.057324	0.66924	D	0.190	0.46781	0.261	0.20473	0.804707843341	0.80287	0.36753973831674386	0.36667	0.146180406376	0.16504	0.539968490601	0.44441	T	0.005359	0.22093	T	0.0634667	0.60045	T	-0.146611	0.59543	T	0.96517151594162	0.67185	D	0.89671	0.64041	D	0.23666409	0.46520	0.23800609	0.49112	0.23666409	0.46520	0.23800609	0.49111	-7.138	0.55035	T	.	.	0.275	0.50844	B	.;.	.;.	4.406346	0.68124	25.2	0.99918692982391422	0.98586	0.84995	0.44094	D	AEFHI	0.384410	0.46555	N	0.520891896961532	0.68327	5.20187	0.461819594961579	0.65481	4.829039	0.846180964441765	0.24957	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.54	4.54	0.55220	4.341000	0.59117	7.458000	0.59026	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:1.0:0.0:0.0	13.128	0.58782	673	0.60677	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	84.49	28	chr3	41883918	.	C	T	84.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.5;DP=188;ExcessHet=0;FS=2.43;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.45;ReadPosRankSum=-1.718;SOR=1.609	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	6	0	1	0
chr3	42184689	42184689	A	G	exonic	TRAK1	.	nonsynonymous SNV	TRAK1:NM_001265609:exon3:c.A146G:p.E49G,TRAK1:NM_001265610:exon3:c.A146G:p.E49G,TRAK1:NM_001349248:exon3:c.A146G:p.E49G,TRAK1:NM_001349249:exon3:c.A146G:p.E49G,TRAK1:NM_014965:exon3:c.A194G:p.E65G,TRAK1:NM_001042646:exon4:c.A368G:p.E123G,TRAK1:NM_001265608:exon4:c.A368G:p.E123G,TRAK1:NM_001349245:exon4:c.A56G:p.E19G,TRAK1:NM_001349246:exon4:c.A368G:p.E123G,TRAK1:NM_001349247:exon4:c.A368G:p.E123G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.469	0.0322231702603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.78490	D	0.068	0.54934	T	0.995	0.67487	D	0.92	0.65550	D	0.000054	0.53742	D	0.122204	1	0.81001	D	2.93	0.84523	M	2.0	0.21473	T	-5.13	0.83763	D	0.911	0.92784	-1.0189	0.24074	T	0.115	0.40831	T	10	0.8667022	0.85917	D	0.032223	0.54110	D	0.469	0.76355	0.732	0.86547	0.537216399577	0.53373	0.8141334908445894	0.81369	0.567834782673	0.53028	0.813650369644	0.84052	D	0.500342	0.83723	D	0.270994	0.80528	D	0.151488	0.80277	D	0.996224403381348	0.88912	D	0.955304	0.82980	D	0.35877553	0.57742	0.45459437	0.68287	0.35877553	0.57742	0.45459437	0.68288	-11.916	0.84438	D	.	.	0.919	0.88506	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.442557	0.90953	32	0.99901220429301407	0.97275	0.95955	0.66881	D	AEFGBCIJ	0.938810	0.93853	D	0.622907183365884	0.74624	6.164678	0.638657062750119	0.77768	6.743496	1.0	0.98316	0.730579	0.87903	0	0.724815	0.89359	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.08	5.08	0.68373	9.096000	0.93530	11.148000	0.87267	0.741000	0.86335	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	1.0:0.0:0.0:0.0	14.380	0.66472	824	0.40336	HAP1, N-terminal;HAP1, N-terminal;HAP1, N-terminal;.;HAP1, N-terminal;.;HAP1, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	38	chr3	42184689	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,114,1710	6	1	0	0
chr3	42263587	42263587	G	A	exonic	CCK	.	nonsynonymous SNV	CCK:NM_001174138:exon2:c.C44T:p.A15V,CCK:NM_000729:exon4:c.C44T:p.A15V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.016671911027	.	.	2.255e-05	0	0	0	0	0	0	0.0002	1.29e-05	2	154602	rs745739227	8.936e-06	8.893e-06	6.833e-06	1.106e-05	0.0001	4.99e-06	3.84e-06	8.054e-05	6.28e-05	3.001e-05	0	0	0	0	0	0	0	0.0001	1.97e-05	1.97e-05	1.284e-05	2.689e-05	0.0004	5.24e-06	2.45e-06	7.285e-05	3.027e-05	2.411e-05	0	0	0	0	0	0	0	0	0.0004	0.072	0.34982	T	0.044	0.49663	D	0.04	0.21238	B	0.012	0.16012	B	0.000024	0.55875	N	0.159954	0.824363	0.28842	N	1.555	0.39373	L	1.86	0.24285	T	-2.97	0.61865	D	0.1	0.08227	-1.0709	0.09216	T	0.047	0.20037	T	10	0.25341752	0.42708	T	0.016672	0.38036	T	0.071	0.20720	0.738	0.87063	0.465721554213	0.46197	0.39190270885336775	0.39105	0.860827919292	0.68953	0.516302704811	0.41106	T	0.291433	0.66419	T	-0.381847	0.03033	T	-0.549604	0.17364	T	0.477042585611343	0.31789	T	0.674133	0.28269	T	0.10953241	0.25895	0.20193572	0.44197	0.10953241	0.25895	0.20193572	0.44196	-3.54	0.16996	T	.	.	0.125	0.26514	B	.;.;.	.;.;.	2.220475	0.28336	17.76	0.9903715115542342	0.50939	0.85652	0.44808	D	AEFDBHCIJ	0.261635	0.37955	N	-0.51091467498108	0.21726	1.155134	-0.497890256133891	0.22212	1.205347	0.999999999858222	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.503968	0.08637	0	0.530356	0.10902	0	.	.	5.26	3.47	0.38831	1.683000	0.37256	0.931000	0.22780	-0.111000	0.15049	0.965000	0.33920	0.355000	0.24491	0.010000	0.09038	0.1528:0.0:0.8472:0.0	10.840	0.45916	727	0.54702	Gastrin/cholecystokinin peptide hormone;Gastrin/cholecystokinin peptide hormone;Gastrin/cholecystokinin peptide hormone	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	58.27	27	chr3	42263587	.	G	A	58.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.63;DP=168;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.64;ReadPosRankSum=-0.541;SOR=1.104	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,776	5	0	1	1
chr3	42407127	42407127	T	C	exonic	LYZL4	.	nonsynonymous SNV	LYZL4:NM_001304386:exon2:c.A125G:p.Y42C,LYZL4:NM_144634:exon2:c.A125G:p.Y42C	.	414	1105	2	1	0	4	0.00180668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.0393221552162	.	.	1.648e-05	0	0	0	0	1.499e-05	0.0011	0	1.29e-05	2	154602	rs767779528	7.524e-06	7.524e-06	4.084e-06	1.1e-05	0.0010	4.04e-06	2.95e-06	0.0005	0.0003	0	0	0	0	0	0.0010	2.698e-06	1.656e-05	1.159e-05	1.971e-05	1.97e-05	3.855e-05	0	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0.0005	0	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000218	0.47681	D	0.087877	0.935693	0.37130	D	3.505	0.92816	H	0.91	0.44856	T	-8.26	0.96915	D	0.802	0.80278	-0.3945	0.72200	T	0.272	0.64380	T	10	0.8688055	0.86136	D	0.039322	0.58744	D	0.302	0.62290	0.511	0.60846	0.83472859845	0.83315	0.8991816920817075	0.89890	0.932263926279	0.71875	0.579627037048	0.50034	T	0.301156	0.67361	T	0.00877826	0.52859	T	-0.128313	0.61114	T	0.998519003391266	0.94365	D	0.845915	0.52533	T	0.7578943	0.81329	0.5479268	0.73865	0.7578943	0.81331	0.5479268	0.73865	-10.365	0.76068	D	.	.	0.670	0.71864	P	.;.	.;.	4.672807	0.74702	26.2	0.99783591178247077	0.87043	0.84565	0.43648	D	AEFDBI	0.435336	0.49601	N	0.6096219160995	0.73783	6.022769	0.499376685787741	0.67949	5.153089	0.756983379525086	0.23450	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.04	4.04	0.46262	3.734000	0.54760	7.006000	0.57214	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.549000	0.30150	0.0:0.0:0.0:1.0	9.935	0.40715	857	0.34089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1361.46	93	chr3	42407127	.	T	C	1361.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.691;DP=283;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=0.405;SOR=0.764	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	6	0	1	0
chr3	42865103	42865103	G	A	exonic	ACKR2	.	nonsynonymous SNV	ACKR2:NM_001296:exon3:c.G601A:p.G201R	.	427	1094	0	1	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0685648203006	0.0002	.	9.071e-05	9.641e-05	0	0	0	0.0001	0	0.0001	7.12e-05	11	154602	rs368758367	5.61e-05	5.609e-05	5.173e-05	6.051e-05	0.0009	4.61e-05	4.236e-05	0.0003	0.0002	2.987e-05	2.236e-05	0.0006	0.0002	0	0.0009	3.417e-05	0.0002	3.479e-05	3.945e-05	3.941e-05	3.856e-05	4.037e-05	4.83e-05	1.716e-05	1.13e-05	8e-06	2.99e-06	4.83e-05	0	0	0.0003	0	0	0	2.94e-05	0.0005	0	0.481	0.08212	T	0.422	0.14034	T	0.84	0.46486	P	0.138	0.33406	B	0.038636	0.24263	N	0.294137	0.999029	0.21801	N	2.695	0.78878	M	-0.57	0.71307	T	-0.82	0.22508	N	0.077	0.05162	-0.7960	0.55380	T	0.197	0.55173	T	9	0.081734866	0.13412	T	0.068565	0.70485	D	0.118	0.32913	0.424	0.46857	0.318828661733	0.31499	0.3135122243958117	0.31264	0.463161663979	0.45825	0.348383307457	0.17683	T	0.035487	0.23738	T	-0.27405	0.11309	T	-0.394762	0.33994	T	0.0393326509232082	0.03570	T	0.806219	0.46553	T	0.119216375	0.28074	0.12560314	0.30262	0.119216375	0.28074	0.12560314	0.30261	-4.169	0.26301	T	.	.	0.177	0.38747	B	.;.;.	.;.;.	3.108386	0.41921	21.4	0.9899645987564728	0.50044	0.14850	0.18617	N	AEFDBI	0.252525	0.37219	N	-0.263265674617669	0.30577	1.706263	-0.322731489052131	0.27366	1.518008	0.185631665965772	0.17933	0.497415	0.19182	0	0.547309	0.14657	0	0.48864	0.07692	0	0.542086	0.14980	0	.	.	4.49	4.49	0.54177	2.601000	0.45912	5.547000	0.48884	0.676000	0.76740	0.057000	0.21666	1.000000	0.68203	0.084000	0.17470	0.0952:0.0:0.9048:0.0	10.438	0.43636	653	0.62661	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1053.46	93	chr3	42865103	.	G	A	1053.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.12;DP=274;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=2.52;SOR=0.63	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1321	6	0	1	0
chr3	42979643	42979643	A	G	exonic	GASK1A	.	startloss	GASK1A:NM_001129908:exon1:c.A1G:p.M1?	.	419	1091	11	1	0	13	0.00592255	0.0017	0.086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	.	.	0.00119808	0.0014	0	0	0	0	0.0008	0	0.0105	0.0001035	16	154602	rs550518057	0.0002	0.0002	0.0002	0.0002	0.0033	0.0002	0.0002	0.0027	0.0024	0	0.0004	0	0	2.996e-05	0.0024	0.0001	0.0003	0.0033	0.0002	0.0002	0.0002	0.0002	0.0029	0.0001	0.0001	0.0018	0.0014	2.407e-05	0	0.0001	0	0	0	0.0034	0.0001	0.0005	0.0029	0.0	0.91255	D	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	0.980197	0.39641	D	.	.	.	1.67	0.27331	T	-1.83	0.42957	N	0.618	0.63374	-0.8437	0.52399	T	0.156	0.48772	T	8	0.06672436	0.09193	T	.	.	.	0.349	0.67049	0.991	0.99904	0.117506650769	0.11410	0.2052084228163677	0.20437	.	.	.	.	.	.	.	.	-0.119994	0.33124	T	0.0618252	0.74367	D	0.221793084659216	0.21553	T	0.9	0.65058	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.951608	0.39279	20.9	0.71442684932860889	0.09630	0.65503	0.32759	D	AEFDBHCI	0.144707	0.26773	N	0.628264256388169	0.74968	6.223914	0.371359831386446	0.59805	4.16158	0.999999508112893	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.519653	0.09787	0	0.554799	0.18163	0	.	.	3.05	3.05	0.34272	0.942000	0.28615	3.474000	0.38602	0.655000	0.54021	1.000000	0.71638	1.000000	0.68203	0.407000	0.26939	1.0:0.0:0.0:0.0	7.909	0.28938	702	0.57624	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004478	0.000000	0.000000	0.000000	0.000000	0.071429	0.000000	0.014706	0.08333	240.27	25	chr3	42979643	.	A	G	240.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.935;DP=156;ExcessHet=0;FS=3.976;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=-0.809;SOR=0.148	GT:AD:DP:GQ:PL	0/0:22,0:22:66:0,66,635	5	0	1	1
chr3	43576874	43576874	T	C	exonic	ANO10	.	nonsynonymous SNV	ANO10:NM_001204833:exon4:c.A647G:p.Y216C,ANO10:NM_001204832:exon5:c.A782G:p.Y261C,ANO10:NM_001346466:exon5:c.A782G:p.Y261C,ANO10:NM_001346469:exon5:c.A782G:p.Y261C,ANO10:NM_001204831:exon6:c.A980G:p.Y327C,ANO10:NM_001346463:exon6:c.A980G:p.Y327C,ANO10:NM_001346464:exon6:c.A980G:p.Y327C,ANO10:NM_001346465:exon6:c.A980G:p.Y327C,ANO10:NM_001346467:exon6:c.A980G:p.Y327C,ANO10:NM_001346468:exon6:c.A980G:p.Y327C,ANO10:NM_018075:exon6:c.A980G:p.Y327C	Spinocerebellar ataxia, autosomal recessive 10, Autosomal recessive	0	1513	9	0	0	9	0.0029654	.	.	.	294876	Inborn_genetic_diseases|Autosomal_recessive_spinocerebellar_ataxia_10|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013392,MedGen:C3150998,OMIM:613728,Orphanet:284289|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.308	0.0251139182337	0.0052	0.00119808	0.0033	0.0010	0.0029	0	0.0006	0.0048	0.0033	0.0019	0.0036222	560	154602	rs146569520	0.0048	0.0048	0.0049	0.0047	0.0068	0.0047	0.0047	0.0055	0.0055	0.0011	0.0030	0.0036	0	0.0003	0.0068	0.0056	0.0042	0.0018	0.0035	0.0035	0.0039	0.0031	0.0058	0.0033	0.0032	0.0053	0.0052	0.0009	0	0.0048	0.0029	0	0.0002	0.0034	0.0058	0.0047	0.0006	0.185	0.23450	T	0.174	0.31125	T	0.003	0.11197	B	0.008	0.13708	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.485	0.37223	L	0.13	0.60973	T	-1.96	0.45404	N	0.521	0.57006	-0.9985	0.30339	T	0.109	0.39462	T	10	0.009207547	0.00208	T	0.025114	0.48100	D	0.308	0.62947	.	.	0.585747170787	0.58248	0.8071596737399566	0.80670	0.13326417044	0.15006	0.766194939613	0.76853	T	0.060622	0.31436	T	-0.0842941	0.39013	T	0.11268	0.77751	D	0.0220382673705165	0.00914	T	0.940306	0.77472	D	0.55774677	0.70385	0.4430752	0.67536	0.55774677	0.70386	0.4430752	0.67536	-6.737	0.52088	T	0.1813730826545785	0.23384	0.082	0.08948	B	.;.;.;.	.;.;.;.	2.562669	0.33191	19.27	0.98754908936297137	0.45724	0.96661	0.70270	D	AEFDBI	0.681186	0.64462	D	-0.0672540045936526	0.38835	2.280714	0.139732704223985	0.46600	2.903425	0.999999992618184	0.74766	0.706298	0.61202	0	0.546412	0.12157	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	4.214000	0.58324	3.429000	0.38303	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.885	0.79020	612	0.66786	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.006793	0.002924	0.000000	0.000000	0.003049	0.011364	0.07143	1766.44	34	chr3	43576874	.	T	C	1766.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.722;DP=338;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=0.104;SOR=0.659	GT:AD:DP:GQ:PL	0/1:84,66:150:99:1777,0,2378	6	0	1	0
chr3	43711842	43711842	C	A	exonic	ABHD5	.	nonsynonymous SNV	ABHD5:NM_001355186:exon4:c.C640A:p.L214I,ABHD5:NM_001365649:exon4:c.C517A:p.L173I,ABHD5:NM_001365650:exon4:c.C640A:p.L214I,ABHD5:NM_016006:exon4:c.C640A:p.L214I	Chanarin-Dorfman syndrome, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	290388	Inborn_genetic_diseases|Triglyceride_storage_disease_with_ichthyosis	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010155,MedGen:C0268238,OMIM:275630,Orphanet:98907	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.324	0.0305197381726	.	0.000399361	0.0001	0	0	0	0	1.498e-05	0	0.0010	0.0001423	22	154602	rs540791910	5.814e-05	5.814e-05	3.403e-05	8.25e-05	0.0008	4.809e-05	4.431e-05	0.0006	0.0006	0	0	0.0002	0	3.744e-05	0.0002	5.396e-06	0.0001	0.0008	5.91e-05	5.906e-05	6.424e-05	5.371e-05	0.0010	3.075e-05	2.209e-05	0.0004	0.0003	0	0	6.533e-05	0	0	0	0	4.41e-05	0	0.0010	0.273	0.15876	T	0.318	0.19246	T	0.247	0.31125	B	0.302	0.41118	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.26	0.31868	L	-2.02	0.85542	D	-0.33	0.12472	N	0.521	0.55106	-0.2331	0.76806	T	0.550	0.83527	D	10	0.09085736	0.15865	T	0.03052	0.52811	D	0.324	0.64624	0.568	0.69034	0.763320079665	0.76116	0.8373172614711547	0.83691	0.264439684571	0.28993	0.758934140205	0.75770	T	0.127594	0.45471	T	-0.160004	0.26758	T	-0.0805987	0.64860	T	0.116931962587775	0.14126	T	0.974353	0.90870	D	0.1782348	0.38832	0.19099104	0.42532	0.1782348	0.38831	0.19099104	0.42531	-5.539	0.42232	T	0.2524026807400575	0.34149	0.281	0.52135	B	.;.;.;.	.;.;.;.	3.114740	0.42032	21.5	0.99445397394655222	0.64971	0.96127	0.67656	D	AEFBCI	0.825039	0.74482	D	0.248194044523037	0.53550	3.523339	0.426944533064945	0.63251	4.555009	0.99999999999989	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	6.058000	0.70754	7.697000	0.66086	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.879	0.99870	709	0.56835	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	377.63	34	chr3	43711842	.	C	A	377.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.137;DP=220;ExcessHet=0;FS=1.342;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=0.228;SOR=0.99	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1404	6	0	1	0
chr3	44396456	44396456	G	A	exonic	TCAIM	.	nonsynonymous SNV	TCAIM:NM_001282913:exon7:c.G752A:p.R251H,TCAIM:NM_001282914:exon7:c.G320A:p.R107H,TCAIM:NM_001282915:exon7:c.G320A:p.R107H,TCAIM:NM_173826:exon7:c.G752A:p.R251H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.038492704974	.	.	8.533e-06	0	0	0	0	1.546e-05	0	0	6.5e-06	1	154602	rs774393777	5.474e-06	6.84e-06	6.809e-06	4.127e-06	2.519e-05	2.36e-06	1.7e-06	2.62e-06	1.68e-06	0	0	0	2.519e-05	0	0	6.296e-06	0	0	1.972e-05	1.971e-05	1.285e-05	2.691e-05	2.939e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.417e-05	0	0	0	0	0	0	2.939e-05	0	0	0.014	0.53172	D	0.012	0.63918	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.445	0.70938	M	0.7	0.51474	T	-2.58	0.55662	D	0.644	0.65673	-0.3938	0.72222	T	0.307	0.67749	T	10	0.7737918	0.77294	D	0.038493	0.58257	D	0.376	0.69443	0.649	0.78648	0.716108874736	0.71361	0.6948801469688866	0.69429	0.909994252364	0.71020	0.532386898994	0.43371	T	0.34283	0.71156	T	0.131122	0.67469	D	-0.0339427	0.68107	D	0.981799185276031	0.74115	D	0.963804	0.86607	D	0.31058422	0.53837	0.18989459	0.42361	0.31058422	0.53837	0.18989459	0.42360	-3.294	0.13660	T	.	.	0.337	0.60188	B	.;.	.;.	5.320511	0.89306	29.9	0.99946501289335965	0.99901	0.95115	0.63493	D	AEFBCI	0.876095	0.79991	D	0.802985660626344	0.86290	8.838837	0.759681464540811	0.86880	9.032686	0.999975141151572	0.50053	0.651	0.46895	0	0.670034	0.63936	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.6	4.73	0.59485	8.611000	0.90689	9.980000	0.82917	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0703:0.0:0.9297:0.0	14.593	0.67979	266	0.89551	Domain of unknown function DUF4461;Domain of unknown function DUF4461	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	64.44	23	chr3	44396456	.	G	A	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.242;DP=196;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.05;ReadPosRankSum=1.1;SOR=0.223	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr3	44794410	44794410	A	C	exonic	KIF15	.	nonsynonymous SNV	KIF15:NM_020242:exon8:c.A833C:p.E278A	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.499	0.0509232695494	.	.	5.214e-05	0	0	0	0	0	0	0.0005	3.88e-05	6	154602	rs769754468	1.379e-05	1.368e-05	5.48e-06	2.221e-05	0.0002	9.01e-06	7.32e-06	0.0001	0.0001	0	0	0	0	0	0	0	3.34e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.41637	T	0.416	0.22084	T	0.127	0.26966	B	0.444	0.45865	B	0.000066	0.52346	D	0.000000	0.999998	0.58761	D	0.325	0.10370	N	-0.95	0.75438	T	-3.9	0.72932	D	0.418	0.45803	-0.6555	0.62473	T	0.313	0.68273	T	10	0.3370994	0.50838	T	0.050923	0.64446	D	0.499	0.78288	0.457	0.52265	0.613844073566	0.61072	0.46756908989959894	0.46675	0.723819464558	0.62352	0.585985302925	0.50929	T	0.301296	0.83301	T	-0.0571905	0.43344	T	-0.0167975	0.69240	D	0.30358691721906	0.25152	T	.	.	.	0.24669933	0.47641	0.27542034	0.53478	0.24669933	0.47641	0.27542034	0.53477	-8.399	0.63758	D	.	.	0.155	0.36574	B	.;.	.;.	4.547765	0.71547	25.7	0.99205206150438963	0.55412	0.97294	0.73849	D	AEFGBI	0.676337	0.64141	D	-0.0310884279817736	0.40451	2.402464	0.121501392772827	0.45650	2.824472	0.999999668494415	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.67	4.67	0.58089	7.028000	0.76204	11.088000	0.85875	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.402	0.66626	323	0.86843	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1315.53	33	chr3	44794410	.	A	C	1315.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.157;DP=296;ExcessHet=0;FS=0.704;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=1.15;SOR=0.589	GT:AD:DP:GQ:PL	0/1:60,54:114:99:1326,0,1539	6	0	1	0
chr3	44901672	44901672	G	A	exonic	TGM4	.	stopgain	TGM4:NM_003241:exon7:c.G806A:p.W269X	.	428	1034	59	1	0	61	0.0286519	.	.	YES	1174741	Essential_tremor	MONDO:MONDO:0003233,MedGen:C0270736,OMIM:PS190300	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	0.0070	0.00519169	0.0084	0.0008	0.0054	0.0001	0.0114	0.0096	0.0177	0.0129	0.0079365	1227	154602	rs139860990	0.0078	0.0079	0.0074	0.0083	0.0359	0.0077	0.0077	0.0319	0.0303	0.0016	0.0072	0.0216	5.038e-05	0.0114	0.0359	0.0070	0.0100	0.0148	0.0079	0.0079	0.0074	0.0084	0.0138	0.0075	0.0074	0.0123	0.0117	0.0013	0.0647	0.0138	0.0213	0.0002	0.0119	0.0408	0.0087	0.0085	0.0108	.	.	.	.	.	.	.	.	.	.	.	.	0.000516	0.43753	U	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26044	0.79570	D	0.613004	0.97331	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	6.758159	0.95693	35	0.98430627671716242	0.41397	0.94692	0.62003	D	AEFDBI	0.051856	0.09201	N	0.265486187549569	0.54408	3.606505	-0.0550447570393013	0.37272	2.180135	0.999722947169698	0.42220	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	2.83	1.91	0.24841	5.428000	0.66226	2.333000	0.32207	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.062000	0.16114	0.0:0.1757:0.8243:0.0	12.091	0.53024	314	0.87270	Transglutaminase-like|Transglutaminase-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.026183	0.035354	0.029891	0.023392	0.000000	0.043103	0.018293	0.011364	0.07143	1118.53	43	chr3	44901672	.	G	A	1118.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.523;DP=273;ExcessHet=0;FS=7.332;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-0.336;SOR=0.993	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1288	6	0	1	0
chr3	45112397	45112397	G	A	exonic	CDCP1	.	nonsynonymous SNV	CDCP1:NM_022842:exon3:c.C341T:p.S114L,CDCP1:NM_178181:exon3:c.C341T:p.S114L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.010210286981	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs554995721	9.577e-06	9.577e-06	1.225e-05	6.875e-06	2.987e-05	5.56e-06	4.35e-06	4.55e-06	3.32e-06	2.987e-05	0	0	0	0	0	8.993e-06	3.311e-05	1.159e-05	1.314e-05	1.313e-05	0	2.69e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.158	0.23997	T	0.222	0.28764	T	0.516	0.37437	P	0.084	0.29521	B	0.650147	0.10520	N	0.814480	1	0.08975	N	2.28	0.64929	M	1.83	0.48460	T	-1.96	0.45404	N	0.13	0.12913	-1.0185	0.24204	T	0.122	0.42399	T	10	0.14941293	0.28278	T	0.01021	0.26478	T	0.064	0.18567	0.304	0.27325	0.594790727895	0.59157	0.4011213009727611	0.40027	0.32985683525	0.35084	0.337590366602	0.16077	T	0.098324	0.40203	T	-0.175133	0.24462	T	-0.489343	0.23461	T	0.322907358407974	0.25939	T	0.820318	0.47908	T	0.07892651	0.18002	0.08806968	0.20513	0.07892651	0.18002	0.08806968	0.20512	-3.974	0.23413	T	.	.	0.104	0.20625	B	.;.	.;.	2.137615	0.27216	17.39	0.9589995656845498	0.28128	0.36542	0.25557	N	AEFBCI	0.294372	0.40476	N	-0.362144028860103	0.26829	1.467223	-0.407090553812551	0.24789	1.359428	0.99999903450297	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.616125	0.45549	0	.	.	5.6	4.73	0.59485	3.845000	0.55590	5.569000	0.48938	0.676000	0.76740	0.508000	0.27017	0.981000	0.30433	0.134000	0.19723	0.0824:0.0:0.9176:0.0	12.296	0.54167	641	0.64016	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1319.49	36	chr3	45112397	.	G	A	1319.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.218;DP=278;ExcessHet=0;FS=0.877;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=0.821;SOR=0.519	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	6	0	1	0
chr3	45772599	45772599	G	A	exonic	SLC6A20	.	nonsynonymous SNV	SLC6A20:NM_001385683:exon5:c.C599T:p.A200V,SLC6A20:NM_020208:exon5:c.C599T:p.A200V	Hyperglycinuria, Autosomal dominant;Iminoglycinuria, digenic, Autosomal recessive, Digenic recessive	0	1517	5	0	0	5	0.00164528	.	.	.	290569	Hyperglycinuria	Human_Phenotype_Ontology:HP:0002931,Human_Phenotype_Ontology:HP:0003108,MONDO:MONDO:0007677,MedGen:C0543541,OMIM:138500	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.630	0.147819047246	.	.	1.762e-05	0	0	0	0	3.156e-05	0	0	1.29e-05	2	154602	rs747095857	1.232e-05	1.368e-05	1.77e-05	6.878e-06	4.478e-05	7.7e-06	6.35e-06	7.42e-06	5.72e-06	0	4.478e-05	0	2.52e-05	0	0	1.259e-05	1.656e-05	0	1.314e-05	1.313e-05	2.569e-05	0	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	0.99	0.63424	D	0.806	0.58437	P	0.000002	0.62929	D	0.058756	0.998848	0.81001	D	2.425	0.70256	M	-1.14	0.77843	T	-3.23	0.65512	D	0.82	0.82257	0.103	0.84224	D	0.520	0.82048	D	10	0.9665354	0.96148	D	0.147819	0.82980	D	0.630	0.85769	0.828	0.93851	0.901667283156	0.90069	0.7968787289379258	0.79640	0.756038273139	0.64014	0.553038537502	0.46286	T	0.257886	0.62898	T	0.103846	0.64705	D	0.0872381	0.76059	D	0.938682973384857	0.60950	D	0.956938	0.83632	D	0.5387657	0.69327	0.4919257	0.70610	0.5387657	0.69328	0.4919257	0.70610	-9.008	0.67749	D	.	.	0.252	0.60624	B	.;.;.	.;.;.	4.486835	0.70057	25.5	0.99859521258879691	0.93820	0.99034	0.90260	D	AEFBI	0.900709	0.84655	D	0.403161634075232	0.61596	4.362865	0.300445707759725	0.55564	3.719524	0.999999996207283	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.33	4.42	0.52775	10.003000	0.99689	8.353000	0.77016	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.051000	0.15275	0.0:0.1383:0.8617:0.0	15.599	0.76352	425	0.81160	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	674.49	77	chr3	45772599	.	G	A	674.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.06;DP=260;ExcessHet=0;FS=1.928;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.76;ReadPosRankSum=-1.406;SOR=0.477	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1383	6	0	1	0
chr3	46203332	46203332	G	A	exonic	CCR1	.	nonsynonymous SNV	CCR1:NM_001295:exon2:c.C982T:p.L328F	.	415	1103	4	0	0	4	0.00180995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0282882188005	.	.	2.474e-05	0	0	0	0	0	0	0.0002	3.84e-05	1	26028	rs781769501	1.163e-05	1.163e-05	2.722e-06	2.063e-05	0.0002	7.08e-06	5.79e-06	0.0001	9.45e-05	0	0	0	0	0	0	0	1.656e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.27	0.22359	T	0.006	0.13644	B	0.009	0.14300	B	0.140918	0.02885	U	2.490730	1	0.08975	N	1.295	0.32453	L	-0.2	0.66113	T	-1.51	0.36787	N	0.043	0.01577	-0.9079	0.47109	T	0.174	0.51753	T	10	0.05769524	0.06667	T	0.028288	0.50986	D	0.094	0.27141	0.499	0.58991	0.352477664867	0.34857	0.3559412497924361	0.35508	0.539670562832	0.51191	0.315603971481	0.12755	T	0.185506	0.53850	T	-0.376247	0.03289	T	-0.541561	0.18143	T	0.0283914854875719	0.01745	T	0.288971	0.05229	T	0.05719725	0.11353	0.08023508	0.18134	0.05719725	0.11352	0.08023508	0.18133	-3.835	0.21328	T	.	.	0.086	0.10691	B	.	.	1.150066	0.15382	11.81	0.98237732995198346	0.39449	0.02196	0.06414	N	AEFBI	0.063405	0.12250	N	-0.886675214433289	0.11158	0.5370062	-0.935087465888767	0.11270	0.5731046	0.99800111121482	0.36301	0.562547	0.31514	0	0.653731	0.59785	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	-3.53	0.04369	0.087000	0.14801	-0.718000	0.07718	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.886000	0.42526	0.5253:0.2952:0.1795:0.0	7.164	0.24855	441	0.80015	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1758.49	34	chr3	46203332	.	G	A	1758.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.661;DP=300;ExcessHet=0;FS=1.484;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=-1.929;SOR=0.857	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1208	6	0	1	0
chr3	46357985	46357985	C	T	exonic	CCR2	.	nonsynonymous SNV	CCR2:NM_001123041:exon2:c.C458T:p.T153M,CCR2:NM_001123396:exon2:c.C458T:p.T153M	.	422	1097	2	1	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.438	0.0557900529154	0.0003	.	9.9e-05	0.0003	8.639e-05	0.0001	0	9.012e-05	0	6.056e-05	8.41e-05	13	154602	rs370278890	1.915e-05	1.915e-05	2.178e-05	1.65e-05	8.961e-05	1.328e-05	1.144e-05	2.374e-05	1.258e-05	8.961e-05	4.472e-05	0	2.519e-05	0	0	1.619e-05	4.967e-05	1.159e-05	4.6e-05	4.597e-05	2.569e-05	6.726e-05	0.0001	2.109e-05	1.527e-05	4.739e-05	3.053e-05	0.0001	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	1	0.81001	D	3.535	0.93119	H	0.89	0.45636	T	-5.49	0.87223	D	0.599	0.74644	-0.0345	0.81536	T	0.368	0.72811	T	10	0.6933706	0.71993	D	0.05579	0.66366	D	0.438	0.74235	.	.	0.762446115887	0.76028	0.6722488289318858	0.67162	0.774241338114	0.64942	0.580577433109	0.50166	T	0.540468	0.84257	D	-0.0895979	0.38142	T	-0.0870426	0.64385	T	0.964640259742737	0.67018	D	0.994181	0.98066	D	0.8015482	0.84004	0.8031097	0.88465	0.8015482	0.84006	0.8031097	0.88466	-10.71	0.78044	D	.	.	0.245	0.47986	B	.;.;.	.;.;.	5.152725	0.86305	28.9	0.99911173820561483	0.98022	0.98341	0.81803	D	AEFGBI	0.757274	0.69628	D	0.811922129832665	0.86848	9.018328	0.713527173392581	0.83404	8.013185	1.0	0.98316	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.77	4.77	0.60425	6.106000	0.71175	4.886000	0.45715	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	18.165	0.89654	426	0.81110	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2898.44	90	chr3	46357985	.	C	T	2898.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.904;DP=522;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=-1.913;SOR=0.695	GT:AD:DP:GQ:PL	0/1:151,126:277:99:2909,0,3539	6	0	1	0
chr3	46437998	46437998	T	-	exonic	LTF	.	frameshift deletion	LTF:NM_001199149:exon16:c.1908delA:p.K636Nfs*14,LTF:NM_001321121:exon16:c.2034delA:p.K678Nfs*14,LTF:NM_002343:exon16:c.2040delA:p.K680Nfs*14,LTF:NM_001321122:exon19:c.2001delA:p.K667Nfs*14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	45.4	37	chr3	46437997	.	AT	A	45.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1122	6	0	1	0
chr3	46676363	46676363	G	A	exonic	ALS2CL	.	nonsynonymous SNV	ALS2CL:NM_001190707:exon19:c.C2068T:p.R690W,ALS2CL:NM_147129:exon19:c.C2068T:p.R690W	.	422	1098	2	0	0	2	0.000909918	.	.	.	3698008	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.121	0.0198874830918	.	.	3.297e-05	0	8.642e-05	0	0	4.499e-05	0	0	2.59e-05	4	154602	rs761995012	3.215e-05	3.215e-05	2.451e-05	3.988e-05	0.0003	2.478e-05	2.221e-05	6.096e-05	3.952e-05	0	0.0001	0	2.519e-05	0	0.0003	3.148e-05	3.312e-05	1.159e-05	1.972e-05	1.97e-05	2.57e-05	1.346e-05	6.544e-05	5.24e-06	2.45e-06	.	.	2.415e-05	0	6.544e-05	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.002	0.79402	D	0.995	0.67487	D	0.549	0.49194	P	0.013329	0.28875	N	0.227351	0.982772	0.25983	N	2.35	0.67516	M	1.52	0.30669	T	-3.45	0.67589	D	0.6	0.62018	-1.0344	0.19046	T	0.073	0.29643	T	10	0.59663206	0.66679	D	0.019887	0.42364	T	0.121	0.33580	0.493	0.58048	0.383760037723	0.37989	0.44080285351257636	0.43997	0.340920239572	0.36029	0.315024703741	0.12666	T	0.245278	0.61454	T	-0.257988	0.13137	T	-0.382657	0.35411	T	0.732731640338898	0.42352	D	0.923908	0.72182	D	0.113869704	0.26889	0.15474921	0.36305	0.113869704	0.26889	0.15474921	0.36304	-7.759	0.59416	D	.	.	0.105	0.19357	B	.;.	.;.	4.988187	0.82676	27.8	0.99872953974966394	0.95076	0.76444	0.37492	D	AEFDBI	0.436104	0.49646	N	0.0840846131467284	0.45721	2.823949	-0.0142610148864902	0.39071	2.311039	0.999992078655127	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.95	3.0	0.33773	1.891000	0.39372	4.173000	0.42286	0.676000	0.76740	0.137000	0.23458	0.872000	0.27604	0.948000	0.49324	0.1011:0.0:0.6088:0.29	5.423	0.15708	317	0.87119	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	915.27	67	chr3	46676363	.	G	A	915.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.03;DP=236;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=0.906;SOR=0.69	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1148	5	0	1	1
chr3	46989375	46989375	G	A	exonic	NBEAL2	.	nonsynonymous SNV	NBEAL2:NM_001365116:exon5:c.G446A:p.R149H,NBEAL2:NM_015175:exon5:c.G467A:p.R156H	Gray platelet syndrome, Autosomal recessive	0	1511	10	1	0	12	0.00395517	.	.	.	734089	not_specified|not_provided|Gray_platelet_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007686,MedGen:C0272302,OMIM:139090,Orphanet:721	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.036	0.0145040141877	0.0006	0.000998403	0.0023	0.0003	0.0013	0	0	0.0027	0.0033	0.0034	0.0007956	123	154602	rs199797249	0.0007	0.0007	0.0006	0.0009	0.0037	0.0007	0.0007	0.0034	0.0033	6.13e-05	0.0004	0.0141	7.966e-05	0	0.0016	0.0002	0.0014	0.0037	0.0007	0.0007	0.0006	0.0008	0.0025	0.0006	0.0005	0.0014	0.0011	0.0001	0	0.0007	0.0144	0	0	0	0.0003	0.0024	0.0025	0.535	0.06913	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	-1.355	0.00654	N	0.5	0.55608	T	0.01	0.06868	N	0.126	0.11912	-1.0993	0.04177	T	0.052	0.22192	T	9	0.0032401085	0.00055	T	0.014504	0.34657	T	0.036	0.09122	.	.	0.102598925029	0.09809	0.11799494674644576	0.11726	0.236531920032	0.26193	0.215354144573	0.01059	T	0.021182	0.16539	T	-0.565021	0.00237	T	-0.586811	0.13943	T	0.0177228832903244	0.00502	T	0.783622	0.42065	T	0.0276266	0.01981	0.03702246	0.03269	0.03915508	0.05352	0.03297379	0.02117	-4.292	0.28065	T	.	.	0.056	0.00436	B	.	.	3.037572	0.40708	21.2	0.78254874175789135	0.12222	0.56748	0.30197	D	AEFBCI	0.072370	0.14440	N	-0.853301204120781	0.11969	0.5806503	-0.717842699980631	0.16516	0.8741012	0.999626527138235	0.41093	0.722319	0.85440	0	0.696144	0.67643	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	3.92	-2.16	0.06684	1.354000	0.33660	2.706000	0.34198	-0.116000	0.14526	0.999000	0.42656	0.955000	0.29136	0.992000	0.67800	0.2782:0.0:0.3325:0.3893	3.659	0.07770	29	0.98227	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002016	0.000000	0.002725	0.000000	0.000000	0.000000	0.003049	0.007634	0.07143	1346.63	34	chr3	46989375	.	G	A	1346.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.25;DP=276;ExcessHet=0;FS=3.871;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=-1.677;SOR=1.02	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1286	6	0	1	0
chr3	47121539	47121539	T	C	exonic	SETD2	.	nonsynonymous SNV	SETD2:NM_001349370:exon2:c.A2965G:p.T989A,SETD2:NM_014159:exon3:c.A3097G:p.T1033A	Luscan-Lumish syndrome, Autosomal dominant	419	1093	9	1	0	11	0.00500683	.	.	.	138954	Luscan-Lumish_syndrome|not_specified|not_provided	MONDO:MONDO:0014791,MedGen:C4085873,OMIM:616831,Orphanet:597738|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.090	0.0128914804187	0.0007	0.000998403	0.0010	9.654e-05	0.0002	0	0	0.0011	0.0011	0.0028	0.0008926	138	154602	rs145759179	0.0007	0.0007	0.0006	0.0008	0.0037	0.0007	0.0007	0.0033	0.0032	2.987e-05	0.0004	0.0135	0	0	0.0017	0.0002	0.0014	0.0037	0.0007	0.0007	0.0006	0.0008	0.0025	0.0006	0.0005	0.0014	0.0011	9.619e-05	0	0.0007	0.0141	0	0	0	0.0003	0.0019	0.0025	0.156	0.24090	T	0.363	0.16815	T	0.01	0.15535	B	0.002	0.06944	B	0.006156	0.32237	N	0.218075	0.990508	0.24162	N	0.145	0.08828	N	-2.29	0.87591	D	-1.1	0.46146	N	0.077	0.05162	-0.8181	0.54053	T	0.310	0.68012	T	10	0.004057318	0.00079	T	0.012891	0.31852	T	0.090	0.26093	.	.	0.514870668196	0.51130	0.18933225162775694	0.18851	0.250755808032	0.27649	0.328769266605	0.14747	T	0.09115	0.38735	T	-0.350524	0.04694	T	-0.279016	0.46905	T	0.00928954911060886	0.00118	T	0.621638	0.24364	T	0.034744233	0.03958	0.032573316	0.02014	0.033782486	0.03665	0.027065253	0.00834	-3.247	0.13063	T	0.09114623702421147	0.05752	0.068	0.07507	B	.;.	.;.	1.675540	0.21359	15.16	0.97746549279741712	0.35714	0.26711	0.23071	N	AEFDBI	0.029261	0.02731	N	-0.42219843412744	0.24693	1.335111	-0.248005505942052	0.29840	1.675123	0.999912977257654	0.45857	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.03	3.87	0.43823	0.848000	0.27362	3.062000	0.36164	0.665000	0.62972	0.384000	0.26039	1.000000	0.68203	0.996000	0.76049	0.0:0.2071:0.2665:0.5264	3.094	0.05922	13	0.98894	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	1283.49	33	chr3	47121539	.	T	C	1283.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.59;DP=337;ExcessHet=0;FS=0.651;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.8;ReadPosRankSum=0.143;SOR=0.631	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,114,1710	6	0	1	0
chr3	47410500	47410500	C	A	exonic	PTPN23	.	nonsynonymous SNV	PTPN23:NM_001304482:exon19:c.C2324A:p.P775H,PTPN23:NM_015466:exon20:c.C2702A:p.P901H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0146426269499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.041	0.50514	D	0.015	0.17086	B	0.008	0.13708	B	0.003250	0.35212	N	0.187093	0.988848	0.40839	D	2.24	0.63355	M	4.05	0.03092	T	-1.26	0.31778	N	0.206	0.22870	-0.9224	0.45224	T	0.011	0.04227	T	10	0.10169113	0.18594	T	0.014643	0.34889	T	0.046	0.12618	0.316	0.29258	0.158540857583	0.15491	0.23645820506188525	0.23560	0.0676473337877	0.07564	0.439612746239	0.30524	T	0.236021	0.60341	T	-0.201964	0.20521	T	-0.527884	0.19497	T	0.244941458106041	0.22645	T	0.676832	0.28555	T	0.09390228	0.22065	0.090167135	0.21128	0.09390228	0.22065	0.090167135	0.21128	-6.154	0.47550	T	.	.	0.091	0.13268	B	.	.	2.526081	0.32649	19.11	0.95126756124010481	0.26232	0.64065	0.32287	D	AEFDBCI	0.150543	0.27486	N	-0.535995276618065	0.20924	1.10672	-0.485617000285072	0.22550	1.225294	0.999999851786416	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.36	4.36	0.51643	1.794000	0.38408	3.022000	0.36006	0.599000	0.40250	0.171000	0.23947	0.067000	0.22148	0.623000	0.31974	0.0:1.0:0.0:0.0	15.824	0.78459	20	0.98525	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1453.45	39	chr3	47410500	.	C	A	1453.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.8;DP=335;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.15;ReadPosRankSum=-0.452;SOR=0.626	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	6	0	1	0
chr3	47417407	47417407	C	A	exonic	SCAP	.	nonsynonymous SNV	SCAP:NM_001320044:exon14:c.G2099T:p.G700V,SCAP:NM_012235:exon17:c.G2867T:p.G956V	.	423	1086	13	0	0	13	0.00594966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.235139173524	0.0005	0.000199681	0.0017	0.0005	0.0023	0	0	0.0013	0.0038	0.0028	0.0005692	88	154602	rs368667083	0.0005	0.0005	0.0004	0.0006	0.0028	0.0005	0.0005	0.0023	0.0022	3.084e-05	0.0005	0.0006	8.053e-05	4.04e-05	0.0028	0.0004	0.0005	0.0026	0.0005	0.0005	0.0005	0.0005	0.0025	0.0004	0.0003	0.0014	0.0011	9.66e-05	0	0.0003	0.0009	0	0	0.0034	0.0006	0.0005	0.0025	0.029	0.45756	D	0.041	0.50514	D	0.007	0.14184	B	0.009	0.14300	B	0.081655	0.20854	N	0.511250	0.99995	0.58761	D	1.245	0.31408	L	-1.31	0.79666	T	-0.66	0.19085	N	0.356	0.39760	-0.7611	0.57345	T	0.280	0.65149	T	10	0.011494696	0.00251	T	0.235139	0.88442	D	0.026	0.05648	.	.	0.781689837656	0.77967	0.3237896988971577	0.32291	0.302057614253	0.32536	0.559126377106	0.47145	T	0.304556	0.67686	T	-0.318287	0.07039	T	-0.2349	0.51294	T	0.0122834131688905	0.00199	T	0.810219	0.46129	T	0.121218935	0.28510	0.109434545	0.26374	0.121218935	0.28510	0.109434545	0.26374	-5.842	0.44939	T	.	.	0.073	0.10256	B	.;.;.	.;.;.	1.972875	0.25064	16.63	0.96176023955323708	0.28945	0.87700	0.47328	D	AEFDBCI	0.489897	0.52761	N	-0.367827771219007	0.26622	1.454346	-0.220538961092951	0.30800	1.737378	0.999998161190436	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	4.66	3.78	0.42629	1.933000	0.39783	0.952000	0.22930	0.585000	0.30472	1.000000	0.71638	0.996000	0.32793	0.359000	0.25863	0.0:0.7627:0.1543:0.0831	8.495	0.32282	20	0.98525	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001518	0.000000	0.002725	0.000000	0.000000	0.000000	0.000000	0.003817	0.08333	743.27	32	chr3	47417407	.	C	A	743.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.989;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=0.598;SOR=0.713	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1133	5	0	1	1
chr3	47910712	47910712	C	G	exonic	MAP4	.	nonsynonymous SNV	MAP4:NM_001385664:exon8:c.G3640C:p.E1214Q,MAP4:NM_001385682:exon9:c.G3709C:p.E1237Q,MAP4:NM_001385687:exon10:c.G3760C:p.E1254Q,MAP4:NM_001385688:exon10:c.G3760C:p.E1254Q,MAP4:NM_001385689:exon10:c.G3760C:p.E1254Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.0128529258903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.769e-05	0.0009	6.039e-05	7.517e-05	0.0002	5.633e-05	5.225e-05	6.57e-05	6.053e-05	0	0	3.979e-05	0	0	0.0002	7.944e-05	8.687e-05	1.266e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.213	0.26467	T	.	.	.	.	.	.	.	.	.	.	1	0.31597	N	.	.	.	2.59	0.13317	T	-0.35	0.12847	N	0.167	0.17691	-1.0527	0.13655	T	0.048	0.20355	T	5	0.09787628	0.17658	T	0.012853	0.31779	T	0.039	0.10176	0.211	0.12923	0.19168177325	0.18762	.	.	.	.	.	.	.	0.022675	0.17443	T	-0.326119	0.06410	T	-0.706224	0.05492	T	0.305331349372864	0.25223	T	0.729327	0.34443	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.43448	B	.	.	2.347421	0.30093	18.33	0.98505090803648987	0.42264	0.24800	0.22505	N	AEFGBCI	.	.	.	-0.124211931171064	0.36340	2.099225	-0.149403042939749	0.33432	1.912276	0.999999966076043	0.74766	0.421363	0.06395	0	0.546412	0.12157	0	0.536957	0.11973	0	0.466023	0.07079	0	.	.	5.13	4.24	0.49486	0.771000	0.26294	2.677000	0.33989	0.599000	0.40250	0.001000	0.13787	0.986000	0.30841	0.956000	0.50813	0.0:0.8339:0.1661:0.0	12.668	0.56215	8	0.99202	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	41.16	84	chr3	47910712	.	C	G	41.16	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-3.701;DP=542;ExcessHet=0;FS=88.288;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=-0.451;SOR=6.438	GT:AD:DP:GQ:PL	0/0:79,0:79:85:0,85,2054	4	0	1	2
chr3	48174283	48174283	C	G	splicing	CDC25A	NM_201567:exon8:c.810+1G>C;NM_001789:exon9:c.930+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.872e-07	1.71e-05	0	1.381e-06	3.025e-05	0	0	.	.	3.025e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392481	0.89476	D	0.325996	0.89343	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.000131	0.82956	27.9	0.98231250675388404	0.39396	0.95833	0.66349	D	AEFBI	.	.	.	1.00404451880619	0.95868	14.04926	0.84618449324408	0.92792	11.63411	0.999998650712667	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.082826	0.02530	0	0.117559	0.03655	0	0.957114	0.64042	5.6	4.72	0.59248	2.505000	0.45084	6.999000	0.57189	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.844000	0.39860	0.0:0.9136:0.0:0.0864	11.513	0.49752	22	0.98466	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	269.47	40	chr3	48174283	.	C	G	269.47	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.343;DP=419;ExcessHet=3.1439;FS=328.398;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=0.838;SOR=9.507	GT:AD:DP:GQ:PL	0/1:61,45:113:99:222,0,621	2	0	4	1
chr3	48423797	48423797	C	T	exonic	PLXNB1	.	nonsynonymous SNV	PLXNB1:NM_001130082:exon3:c.G815A:p.R272H,PLXNB1:NM_002673:exon3:c.G815A:p.R272H	.	426	1067	28	1	0	30	0.0138632	.	.	.	3192376	PLXNB1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.021	0.0542521768028	0.0052	0.00239617	0.0047	0.0008	0.0032	0	0.0027	0.0050	0.0079	0.0100	0.0046377	717	154602	rs61729213	0.0059	0.0059	0.0056	0.0061	0.0177	0.0058	0.0057	0.0149	0.0139	0.0008	0.0032	0.0081	0.0001	0.0025	0.0177	0.0059	0.0059	0.0115	0.0040	0.0040	0.0040	0.0039	0.0106	0.0037	0.0036	0.0083	0.0074	0.0007	0.0132	0.0051	0.0072	0	0.0037	0.0204	0.0051	0.0076	0.0106	0.057	0.37966	T	0.111	0.37173	T	0.016	0.36856	B	0.001	0.22546	B	0.194289	0.16764	N	0.584617	1	0.08975	N	0.975	0.24501	L	2.79	0.11189	T	-0.94	0.25118	N	0.134	0.13484	-0.9746	0.36213	T	0.011	0.03903	T	10	0.008404374	0.00191	T	0.054252	0.65786	D	0.021	0.04004	.	.	0.20808081866	0.20439	0.39216153544610566	0.39131	0.271221807874	0.29642	0.384781897068	0.22932	T	0.086828	0.37810	T	-0.61637	0.00116	T	-0.648754	0.09042	T	0.00186751405759976	0.00019	T	0.747125	0.36981	T	0.14732799	0.33685	0.06697054	0.13791	0.14732799	0.33685	0.06697054	0.13791	-3.316	0.14285	T	.	.	0.086	0.20586	B	.;.;.	.;.;.	2.502600	0.32310	19.00	0.97602923478947878	0.34859	0.28506	0.23573	N	AEFDBCI	0.184760	0.31209	N	-0.695584778456766	0.16147	0.8201088	-0.697985827993386	0.17010	0.9025726	0.999563213366153	0.40425	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	4.73	1.82	0.24209	1.091000	0.30526	-0.331000	0.09890	0.545000	0.25583	0.626000	0.27965	0.063000	0.22074	0.019000	0.11356	0.0:0.4917:0.1949:0.3134	5.463	0.15923	15	0.98792	Sema domain|Sema domain|Sema domain;Sema domain|Sema domain|Sema domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.014602	0.005051	0.020380	0.005848	0.000000	0.017241	0.009146	0.030303	0.07143	106.44	37	chr3	48423797	.	C	T	106.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.29;ReadPosRankSum=-1.282;SOR=0.223	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1352	6	0	1	0
chr3	48574299	48574299	G	-	exonic	COL7A1	.	frameshift deletion	COL7A1:NM_000094:exon80:c.6464delC:p.P2155Qfs*51	EBD inversa, Autosomal recessive;EBD, Bart type, Autosomal dominant;EBD, localisata variant (3);Epidermolysis bullosa dystrophica, AD, Autosomal dominant;Epidermolysis bullosa dystrophica, AR, Autosomal recessive;Epidermolysis bullosa pruriginosa, Autosomal recessive, Autosomal dominant;Epidermolysis bullosa, pretibial, Autosomal recessive, Autosomal dominant;Toenail dystrophy, isolated, Autosomal dominant;Transient bullous of the newborn, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1170192	Abnormality_of_the_skin	Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2077.4	36	chr3	48574298	.	TG	T	2077.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.174;DP=368;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=-0.276;SOR=0.718	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1322	6	0	1	0
chr3	48586470	48586470	C	T	exonic	COL7A1	.	nonsynonymous SNV	COL7A1:NM_000094:exon27:c.G3412A:p.V1138M	EBD inversa, Autosomal recessive;EBD, Bart type, Autosomal dominant;EBD, localisata variant (3);Epidermolysis bullosa dystrophica, AD, Autosomal dominant;Epidermolysis bullosa dystrophica, AR, Autosomal recessive;Epidermolysis bullosa pruriginosa, Autosomal recessive, Autosomal dominant;Epidermolysis bullosa, pretibial, Autosomal recessive, Autosomal dominant;Toenail dystrophy, isolated, Autosomal dominant;Transient bullous of the newborn, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	290989	COL7A1-related_disorder|not_provided|Epidermolysis_bullosa_dystrophica	.|MedGen:C3661900|MONDO:MONDO:0006543,MedGen:C0079294,Orphanet:303	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.242	0.0507760545315	7.7e-05	.	9.07e-05	9.621e-05	0	0	0	3.002e-05	0	0.0005	7.76e-05	12	154602	rs145048666	3.079e-05	3.078e-05	2.587e-05	3.576e-05	0.0004	2.347e-05	2.095e-05	0.0003	0.0002	8.961e-05	2.236e-05	0	0	0	0	8.093e-06	1.656e-05	0.0004	5.252e-05	5.249e-05	2.57e-05	8.056e-05	0.0004	2.555e-05	1.829e-05	7.285e-05	3.027e-05	4.811e-05	0	0	0	0	0	0	5.88e-05	0	0.0004	0.151	0.24564	T	0.173	0.30143	T	0.999	0.77913	D	0.947	0.68407	D	0.028840	0.25543	N	0.194924	0.999999	0.08975	N	2.075	0.57047	M	-1.07	0.76948	T	-0.43	0.14390	N	0.463	0.49965	-0.6786	0.61437	T	0.366	0.72651	T	10	0.37787953	0.53970	T	0.050776	0.64384	D	0.242	0.54781	.	.	0.874558810669	0.87333	0.5460547872894344	0.54531	0.250513331292	0.27618	0.466369360685	0.34183	T	0.227305	0.59256	T	-0.226134	0.17163	T	-0.240636	0.50737	T	0.126601533256048	0.15065	T	0.816218	0.47186	T	0.06531073	0.13945	0.061872657	0.12017	0.06531073	0.13945	0.061872657	0.12016	-3.413	0.15232	T	0.13130275179206227	0.13895	0.210	0.43721	B	.	.	2.917933	0.38724	20.8	0.92486560018808162	0.21920	0.36348	0.25512	N	AEFBCI	0.090633	0.18363	N	0.247516305348198	0.53515	3.520113	0.211298816381114	0.50475	3.23904	0.964307470438623	0.28750	0.661447	0.50134	0	0.588066	0.40923	0	0.644132	0.48003	0	0.542086	0.14980	0	.	.	4.88	3.74	0.42108	1.078000	0.30365	2.587000	0.33447	0.599000	0.40250	0.687000	0.28504	0.993000	0.31925	0.968000	0.53726	0.0:0.7246:0.0:0.2754	4.037	0.09218	11	0.98996	von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	946.44	95	chr3	48586470	.	C	T	946.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.45;DP=292;ExcessHet=0;FS=1.688;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-1.353;SOR=0.712	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1351	6	0	1	0
chr3	48589399	48589399	C	T	exonic	COL7A1	.	nonsynonymous SNV	COL7A1:NM_000094:exon18:c.G2242A:p.E748K	EBD inversa, Autosomal recessive;EBD, Bart type, Autosomal dominant;EBD, localisata variant (3);Epidermolysis bullosa dystrophica, AD, Autosomal dominant;Epidermolysis bullosa dystrophica, AR, Autosomal recessive;Epidermolysis bullosa pruriginosa, Autosomal recessive, Autosomal dominant;Epidermolysis bullosa, pretibial, Autosomal recessive, Autosomal dominant;Toenail dystrophy, isolated, Autosomal dominant;Transient bullous of the newborn, Autosomal recessive, Autosomal dominant	1	1460	56	5	0	66	0.0221031	.	.	.	251202	not_specified|not_provided|Epidermolysis_bullosa_dystrophica	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0006543,MedGen:C0079294,Orphanet:303	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.194	.	0.0009	0.00379393	0.0033	0.0002	0.0018	0	0	0.0014	0.0011	0.0172	0.0028978	448	154602	rs148411473	0.0018	0.0018	0.0012	0.0024	0.0184	0.0018	0.0017	0.0176	0.0173	0.0003	0.0011	0.0009	0	1.888e-05	0.0141	0.0007	0.0027	0.0184	0.0015	0.0015	0.0012	0.0018	0.0151	0.0013	0.0013	0.0123	0.0113	7.222e-05	0	0.0044	0.0006	0	0	0.0204	0.0011	0.0009	0.0151	0.231	0.18246	T	0.139	0.33666	T	0.959	0.55135	D	0.777	0.57175	P	0.005376	0.32858	N	0.135690	0.508456	0.31667	N	1.9	0.50570	L	0.4	0.57261	T	-0.62	0.18248	N	0.491	0.52475	-0.5244	0.67752	T	0.229	0.59497	T	10	0.011641651	0.00254	T	.	.	.	0.194	0.47447	.	.	0.824655765994	0.82299	0.3013747926667479	0.30050	0.280732358232	0.30549	0.526489496231	0.42541	T	0.117249	0.43719	T	-0.330449	0.06078	T	-0.233164	0.51465	T	0.015706234838433	0.00362	T	0.789521	0.42989	T	0.0975243	0.22990	0.11257368	0.27163	0.0975243	0.22990	0.11257368	0.27163	-7.264	0.55939	T	0.14660050217181989	0.16924	0.135	0.29367	B	.	.	2.133117	0.27159	17.37	0.99226725419442319	0.56089	0.53863	0.29475	D	AEFDBCI	0.204462	0.33089	N	0.353590615966237	0.58928	4.068354	0.303934232186075	0.55768	3.739905	0.999996664336923	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.604944	0.38103	0	.	.	5.26	5.26	0.73479	0.947000	0.28680	2.714000	0.34259	0.599000	0.40250	0.407000	0.26226	0.994000	0.32194	0.878000	0.41950	0.0:0.9099:0.0:0.0901	10.354	0.43134	11	0.98996	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016113	0.000000	0.016304	0.023392	0.000000	0.008621	0.021341	0.022727	0.07143	1279.53	38	chr3	48589399	.	C	T	1279.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.846;DP=300;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=-2.154;SOR=0.766	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1365	6	0	1	0
chr3	48645117	48645117	C	T	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon25:c.G7890A:p.M2630I	.	415	1027	71	9	0	89	0.0415306	.	.	.	48715	Variant_of_unknown_significance|not_provided	MedGen:C2986382|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.393	.	0.0009	0.00319489	0.0044	0.0002	0.0027	0	0.0002	0.0026	0.0084	0.0197	0.0036869	570	154602	rs149614835	0.0024	0.0025	0.0019	0.0030	0.0382	0.0024	0.0024	0.0341	0.0325	0.0009	0.0017	0.0094	5.072e-05	0.0003	0.0382	0.0011	0.0040	0.0181	0.0018	0.0018	0.0015	0.0020	0.0190	0.0016	0.0015	0.0159	0.0147	0.0003	0	0.0020	0.0098	0	0.0002	0.0170	0.0013	0.0024	0.0190	0.006	0.61437	D	0.005	0.72224	D	0.987	0.61912	D	0.908	0.64494	P	.	.	.	.	1	0.81001	D	2.13	0.59329	M	1.29	0.35775	T	-3.59	0.69236	D	0.812	0.80767	-0.6440	0.62974	T	0.226	0.59007	T	9	0.011453748	0.00250	T	.	.	.	0.393	0.70844	0.547	0.66156	0.808317247251	0.80651	0.8152272965699411	0.81478	0.981655826999	0.73759	0.719656050205	0.69997	T	0.370865	0.73533	T	-0.112624	0.34336	T	0.0810421	0.75648	D	0.0384281591043975	0.03409	T	0.772323	0.40326	T	0.5032531	0.67286	0.45666093	0.68420	0.5032531	0.67287	0.45666093	0.68420	-10.2	0.75100	D	.	.	0.409	0.60090	A	.	.	4.422272	0.68507	25.2	0.99749842171488468	0.84152	0.98385	0.82238	D	AEFBI	0.885987	0.81699	D	0.678335262368401	0.78214	6.826448	0.68768746655041	0.81442	7.527931	0.999999999992481	0.74766	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	5.24	5.24	0.72863	7.541000	0.81014	2.197000	0.31255	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.828	0.92093	4	0.99387	GPCR, family 2-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021148	0.015152	0.020436	0.058480	0.050000	0.025862	0.018293	0.015267	0.1429	1603.34	54	chr3	48645117	.	C	T	1603.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.789;DP=284;ExcessHet=0.3476;FS=1.355;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=1.81;SOR=0.838	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1157	5	0	2	0
chr3	49013066	49013066	G	A	exonic	WDR6	.	nonsynonymous SNV	WDR6:NM_001320546:exon2:c.G1454A:p.R485H,WDR6:NM_001320547:exon2:c.G1379A:p.R460H,WDR6:NM_018031:exon2:c.G1532A:p.R511H	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.684	0.143908924888	0.0008	0.000798722	0.0011	0.0004	0.0005	0	0.0003	0.0014	0.0011	0.0012	0.0010543	163	154602	rs142520902	0.0012	0.0012	0.0012	0.0012	0.0080	0.0011	0.0011	0.0062	0.0055	0.0006	0.0009	0.0003	2.523e-05	0.0006	0.0080	0.0012	0.0014	0.0016	0.0010	0.0010	0.0010	0.0010	0.0021	0.0009	0.0008	0.0011	0.0009	0.0005	0	0.0015	0	0	0.0006	0.0102	0.0012	0.0033	0.0021	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.982	0.88582	D	0.000000	0.84330	D	0.000000	0.999858	0.81001	D	1.79	0.46772	L	-0.22	0.90083	T	-4.71	0.79915	D	0.711	0.71765	0.782	0.94191	D	0.830	0.94313	D	10	0.16239479	0.30435	T	0.143909	0.82620	D	0.684	0.88443	.	.	0.920913373336	0.92011	0.8852919513013255	0.88498	0.858137607656	0.68846	0.743246555328	0.73450	T	0.152551	0.67814	T	-0.105573	0.35500	T	0.0454957	0.73287	D	0.0458476212297395	0.04755	T	0.877412	0.59112	D	0.45112568	0.64112	0.23708549	0.48997	0.45112568	0.64113	0.23708549	0.48996	-10.903	0.79123	D	.	.	0.895	0.82448	P	.;.;.;.	.;.;.;.	5.028960	0.83633	28.1	0.99936757636496798	0.99621	0.98134	0.79889	D	AEFDBCI	0.925463	0.90505	D	0.827740561056247	0.87805	9.347594	0.82317825321104	0.91357	10.845	0.999999999999895	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.49	5.49	0.81022	9.053000	0.93310	9.894000	0.82296	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.378	0.94508	0	0.99858	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.005051	0.001359	0.011696	0.000000	0.000000	0.003049	0.003788	0.07143	1115.44	43	chr3	49013066	.	G	A	1115.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.506;DP=292;ExcessHet=0;FS=0.818;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=1.48;SOR=0.556	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr3	49013435	49013435	C	A	exonic	WDR6	.	nonsynonymous SNV	WDR6:NM_001320546:exon2:c.C1823A:p.A608D,WDR6:NM_001320547:exon2:c.C1748A:p.A583D,WDR6:NM_018031:exon2:c.C1901A:p.A634D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.0246608509446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.72154	D	0.004	0.74150	D	0.999	0.77913	D	0.927	0.66185	D	0.000005	0.62929	D	0.105511	0.999849	0.50806	D	1.59	0.40313	L	3.57	0.58176	T	-1.95	0.45222	N	0.407	0.45047	-0.8431	0.52440	T	0.227	0.59196	T	10	0.27074414	0.44608	T	0.024661	0.47647	T	0.190	0.46781	0.654	0.79172	0.726976991548	0.72455	0.8850303567306606	0.88472	0.920332008699	0.71416	0.569419503212	0.48595	T	0.02577	0.30653	T	0.112362	0.65596	D	-0.0763758	0.65167	T	0.865448236465454	0.51556	D	0.768423	0.39759	T	0.44696277	0.63849	0.48129046	0.69962	0.44696277	0.63850	0.48129046	0.69963	-7.346	0.56522	T	.	.	0.522	0.75771	A	.;.;.;.;.	.;.;.;.;.	4.467291	0.69576	25.4	0.99686815053882816	0.79641	0.71778	0.35161	D	AEFDBCI	0.606300	0.59670	D	0.287099931356116	0.55493	3.713431	0.361715854212752	0.59218	4.09767	1.0	0.98316	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.35	5.35	0.76297	4.324000	0.59016	5.937000	0.51416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.053	0.93035	0	0.99858	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	43	chr3	49013435	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=229;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	1	0	0
chr3	49117734	49117734	C	T	exonic	USP19	.	nonsynonymous SNV	USP19:NM_001199160:exon4:c.G395A:p.R132H,USP19:NM_001199161:exon4:c.G395A:p.R132H,USP19:NM_001199162:exon4:c.G395A:p.R132H,USP19:NM_001351098:exon4:c.G350A:p.R117H,USP19:NM_001351099:exon4:c.G395A:p.R132H,USP19:NM_001351100:exon4:c.G395A:p.R132H,USP19:NM_001351101:exon4:c.G395A:p.R132H,USP19:NM_001351102:exon4:c.G350A:p.R117H,USP19:NM_001351103:exon4:c.G395A:p.R132H,USP19:NM_001351104:exon4:c.G395A:p.R132H,USP19:NM_001351105:exon4:c.G395A:p.R132H,USP19:NM_001351106:exon4:c.G395A:p.R132H,USP19:NM_001351107:exon4:c.G350A:p.R117H,USP19:NM_001351108:exon4:c.G350A:p.R117H,USP19:NM_006677:exon4:c.G395A:p.R132H	.	.	.	.	.	.	.	.	.	.	.	4083777	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.046	0.0029998859942	.	.	3.312e-05	0.0002	0	0	0	2.997e-05	0	0	2.59e-05	4	154602	rs745611822	4.788e-06	4.788e-06	8.167e-06	1.375e-06	0.0003	1.99e-06	1.28e-06	6.092e-05	2.521e-05	2.987e-05	0	0	2.519e-05	0	0.0003	1.799e-06	1.656e-05	0	1.972e-05	1.97e-05	2.57e-05	1.345e-05	7.239e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.239e-05	0	0	0	0	0	0	0	0	0	0.157	0.25664	T	0.392	0.19188	T	0.004	0.12183	B	0.003	0.08700	B	0.099710	0.19920	N	0.559420	1	0.81001	D	0.97	0.24054	L	2.55	0.13795	T	-0.41	0.14000	N	0.138	0.16447	-0.9994	0.30087	T	0.018	0.07234	T	10	0.070097625	0.10152	T	0.003	0.06427	T	0.046	0.12618	.	.	0.285775778912	0.28195	0.25763063347887755	0.25677	0.189500635464	0.21270	0.25401455164	0.04203	T	0.008218	0.15700	T	-0.416655	0.01797	T	-0.599604	0.12845	T	0.0114066433161497	0.00170	T	0.846215	0.55187	T	0.023264658	0.01052	0.02530914	0.00572	0.023264658	0.01052	0.02530914	0.00571	-6.735	0.52937	T	.	.	0.073	0.12037	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.403515	0.30884	18.57	0.8603088495607969	0.16268	0.39679	0.26267	N	AEFDBI	0.061739	0.11823	N	-1.13484924338859	0.06033	0.2766598	-1.01330829746241	0.09492	0.4725466	0.899759303257718	0.26059	0.719381	0.83141	0	0.697927	0.68747	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.07	1.02	0.19102	0.433000	0.21196	0.995000	0.23219	-0.813000	0.03045	0.858000	0.30578	0.485000	0.25122	0.709000	0.34421	0.0:0.5361:0.0:0.4639	8.443	0.31985	0	0.99858	CS domain|CS domain;.;.;CS domain|CS domain;CS domain|CS domain;.;CS domain|CS domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	2162.44	36	chr3	49117734	.	C	T	2162.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2;DP=392;ExcessHet=0;FS=1.789;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-0.411;SOR=0.678	GT:AD:DP:GQ:PL	0/1:103,87:190:99:2173,0,2528	6	0	1	0
chr3	49163967	49163967	G	A	exonic	CCDC71	.	nonsynonymous SNV	CCDC71:NM_022903:exon2:c.C242T:p.P81L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0099956692643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.005	0.72224	D	0.976	0.58310	D	0.723	0.54990	P	0.000650	0.42656	D	0.160146	0.99986	0.50061	D	2.4	0.69460	M	1.12	0.38718	T	-5.65	0.86988	D	0.232	0.26111	-0.7700	0.56857	T	0.187	0.53722	T	10	0.33536372	0.50695	T	0.009996	0.26012	T	0.203	0.48915	0.504	0.59770	0.662707445969	0.65987	0.44548873718044074	0.44466	0.340530058476	0.35994	0.569285273552	0.48577	T	0.115471	0.43408	T	-0.133627	0.30909	T	-0.429723	0.29966	T	0.949472784996033	0.63122	D	0.820618	0.47957	T	0.1531435	0.34727	0.30356106	0.56387	0.1531435	0.34727	0.30356106	0.56386	-3.696	0.19259	T	.	.	0.310	0.53755	B	.	.	3.985560	0.58615	24.0	0.99587960744515758	0.73395	0.82227	0.41487	D	AEFGBCI	0.484297	0.52438	N	0.692815351659993	0.79161	7.01974	0.704634081692818	0.82732	7.840176	0.999999973507561	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	5.316000	0.65599	9.995000	0.83008	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.8534:0.1466	14.510	0.67368	0	0.99858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2047.44	35	chr3	49163967	.	G	A	2047.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.587;DP=369;ExcessHet=0;FS=7.782;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-0.116;SOR=1.218	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr3	49419325	49419325	C	T	exonic	AMT	.	nonsynonymous SNV	AMT:NM_001164710:exon5:c.G499A:p.E167K,AMT:NM_001164711:exon5:c.G463A:p.E155K,AMT:NM_000481:exon6:c.G631A:p.E211K,AMT:NM_001164712:exon6:c.G631A:p.E211K	Glycine encephalopathy, Autosomal recessive	0	1424	94	4	0	102	0.0345763	.	.	.	452827	Glycine_encephalopathy|not_specified|not_provided	Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.077	.	0.0065	0.0071885	0.0110	0.0012	0.0059	0	0.0136	0.0125	0.0203	0.0191	0.0104591	1617	154602	rs116192290	0.0089	0.0089	0.0083	0.0095	0.0270	0.0087	0.0087	0.0236	0.0223	0.0012	0.0066	0.0194	7.557e-05	0.0116	0.0270	0.0082	0.0102	0.0182	0.0079	0.0079	0.0078	0.0081	0.0174	0.0075	0.0074	0.0144	0.0133	0.0018	0.0219	0.0074	0.0170	0	0.0131	0.0272	0.0099	0.0137	0.0174	0.661	0.13262	T	0.8	0.04142	T	0.019	0.17989	B	0.023	0.19966	B	0.016838	0.27876	N	0.416320	0.655655	0.36667	D	0.19	0.09125	N	-1.73	0.83327	D	-1.46	0.37375	N	0.179	0.30118	-0.9990	0.30199	T	0.063	0.26136	T	10	0.008803636	0.00199	T	.	.	.	0.437	0.74164	.	.	.	.	0.6177274581730304	0.61705	0.234613189541	0.26000	0.587630629539	0.51160	T	0.595225	0.86947	D	-0.199244	0.20915	T	-0.0440396	0.67427	D	0.00989505753933275	0.00131	T	0.948205	0.80130	D	0.3693229	0.58535	0.14150867	0.33697	0.3693229	0.58535	0.14150867	0.33696	-6.095	0.48405	T	0.12287218848646665	0.11830	0.133	0.35034	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.845707	0.37553	20.5	0.99527904960598856	0.69653	0.64042	0.32280	D	AEFDGBCI	0.282641	0.39593	N	0.0923306099819885	0.46106	2.856147	0.178970971326757	0.48694	3.082081	0.999999700014168	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.508809	0.08732	0	.	.	5.43	3.64	0.40864	2.567000	0.45619	3.305000	0.37415	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.827:0.0:0.173	9.263	0.36786	1	0.99630	Aminomethyltransferase, folate-binding domain;.;.;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;.;.	.	.	.	.	rs116192290	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021148	0.010101	0.020380	0.026316	0.000000	0.008621	0.024390	0.026515	0.07143	1853.49	33	chr3	49419325	.	C	T	1853.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.76;DP=330;ExcessHet=0;FS=6.549;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=0.042;SOR=1.225	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1152	6	0	1	0
chr3	49422392	49422392	G	A	exonic	AMT	.	nonsynonymous SNV	AMT:NM_000481:exon1:c.C59T:p.P20L,AMT:NM_001164710:exon1:c.C59T:p.P20L,AMT:NM_001164711:exon1:c.C59T:p.P20L,AMT:NM_001164712:exon1:c.C59T:p.P20L	Glycine encephalopathy, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	953539	Inborn_genetic_diseases|Glycine_encephalopathy	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.258	0.0527428734783	.	.	8.356e-06	0	0	0	0	1.522e-05	0	0	6.5e-06	1	154602	rs749087037	5.008e-05	4.994e-05	5.324e-05	4.689e-05	5.589e-05	4.071e-05	3.745e-05	4.448e-05	4.037e-05	0	4.484e-05	0	0	3.789e-05	0	5.589e-05	6.657e-05	3.479e-05	1.322e-05	1.317e-05	1.291e-05	1.355e-05	2.947e-05	2.2e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.947e-05	0	0	0.358	0.12070	T	0.533	0.10607	T	0.0	0.02946	B	0.0	0.01387	B	0.456455	0.04844	N	1.403430	1	0.19486	N	-0.695	0.01866	N	-1.73	0.92007	D	-0.73	0.24460	N	0.049	0.07125	-0.5872	0.65332	T	0.457	0.78843	T	10	0.071611196	0.10579	T	0.052743	0.65193	D	0.258	0.56959	0.422	0.46529	0.469578130381	0.46583	0.23523431814499318	0.23438	0.210734899915	0.23571	0.41975659132	0.27803	T	0.326779	0.69736	T	-0.0868887	0.38587	T	-0.261956	0.48629	T	0.0202983614287183	0.00730	T	0.818018	0.49766	T	0.023132611	0.01028	0.025902051	0.00653	0.023132611	0.01028	0.025902051	0.00653	-4.477	0.31920	T	.	.	0.093	0.21803	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	0.273923	0.06514	2.994	0.94188084326927224	0.24412	0.03466	0.08620	N	ALL	0.131873	0.25098	N	-1.26165058524407	0.04148	0.1866556	-1.31065351563386	0.04291	0.2021124	0.999999999884812	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.52208	0.10781	0	0.528226	0.09195	0	.	.	3.89	-2.44	0.06126	-0.545000	0.06159	-0.254000	0.10482	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3938:0.313:0.2931:0.0	4.409	0.10850	1	0.99630	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	790.63	33	chr3	49422392	.	G	A	790.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.558;DP=243;ExcessHet=0;FS=3.589;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.524;SOR=0.354	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1156	6	0	1	0
chr3	49425968	49425968	T	G	exonic	NICN1	.	nonsynonymous SNV	NICN1:NM_032316:exon3:c.A338C:p.E113A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00726579796371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.03085	T	0.79	0.04194	T	0.6	0.39325	P	0.316	0.41603	B	0.000794	0.41772	D	0.209918	0.564673	0.81001	D	0.84	0.21119	L	1.83	0.24841	T	0.16	0.05217	N	0.269	0.30461	-1.0929	0.05066	T	0.041	0.17488	T	10	0.19749892	0.35684	T	0.007266	0.19280	T	0.078	0.22779	0.31	0.28289	0.221734844693	0.21761	0.29724797168499045	0.29637	0.463146450932	0.45825	0.495803564787	0.38243	T	0.016719	0.13769	T	-0.110846	0.34629	T	-0.396999	0.33734	T	0.688012063503265	0.40156	D	0.749425	0.37065	T	0.07142755	0.15813	0.05192942	0.08454	0.07142755	0.15813	0.05192942	0.08453	-1.234	0.01299	T	.	.	0.335	0.55535	B	.;.;.	.;.;.	2.722339	0.35608	19.94	0.74067919507730295	0.10558	0.78089	0.38476	D	AEFGBI	0.249537	0.36975	N	-0.0306046233228108	0.40473	2.404131	0.0891053894412161	0.43999	2.690223	0.999996760933014	0.74766	0.706298	0.61202	0	0.643519	0.57511	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.24	5.24	0.72863	5.413000	0.66140	6.201000	0.54892	0.661000	0.55757	0.996000	0.39380	1.000000	0.68203	0.692000	0.33898	0.0:0.0:0.176:0.824	9.603	0.38780	1	0.99630	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	522.63	33	chr3	49425968	.	T	G	522.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.453;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.04;ReadPosRankSum=0.764;SOR=0.638	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr3	49656608	49656608	G	A	exonic	BSN	.	nonsynonymous SNV	BSN:NM_003458:exon5:c.G7052A:p.R2351Q	.	412	1108	2	0	0	2	0.000901713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.00945636305829	0.0002	0.000399361	0.0006	0	0.0011	0	0	0.0008	0.0017	0.0003	0.0003946	61	154602	rs147218044	0.0003	0.0003	0.0003	0.0003	0.0035	0.0003	0.0003	0.0023	0.0019	6.006e-05	0.0003	0.0030	0	1.921e-05	0.0035	0.0002	0.0006	0.0001	0.0003	0.0003	0.0004	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	0.0001	0	6.53e-05	0.0029	0	0	0	0.0005	0	0	0.104	0.29959	T	0.602	0.07894	T	1.0	0.90584	D	0.988	0.77976	D	0.459461	0.12409	N	0.745176	0.899348	0.36134	D	1.735	0.44892	L	2.29	0.17113	T	-0.03	0.07444	N	0.186	0.20262	-1.0503	0.14313	T	0.076	0.30522	T	10	0.013151258	0.00280	T	0.009456	0.24786	T	0.158	0.41098	.	.	0.513042017857	0.50944	0.07283832009574284	0.07220	0.318413710368	0.34066	0.499899238348	0.38814	T	0.117904	0.43834	T	-0.441504	0.01267	T	-0.524795	0.19809	T	0.0322890799931859	0.02354	T	0.842916	0.51943	T	0.10092126	0.23835	0.11872733	0.28659	0.10092126	0.23835	0.11872733	0.28659	-3.704	0.19377	T	.	.	0.078	0.06710	B	.	.	2.801423	0.36851	20.4	0.98863985737911109	0.47528	0.08762	0.14643	N	AEFDBIJ	0.217913	0.34298	N	0.32426391391503	0.57397	3.906801	0.321360981392506	0.56798	3.843628	0.999999999948134	0.74766	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	5.45	5.45	0.79688	0.437000	0.21261	7.235000	0.57884	0.676000	0.76740	0.002000	0.15269	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	17.953	0.88981	1	0.99630	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002528	0.005208	0.004098	0.000000	0.000000	0.008621	0.006135	0.000000	0.07143	595.53	36	chr3	49656608	.	G	A	595.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.64;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.633;SOR=0.715	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1501	6	0	1	0
chr3	49660642	49660642	G	A	exonic	BSN	.	nonsynonymous SNV	BSN:NM_003458:exon6:c.G8797A:p.V2933I	.	404	1080	36	2	0	40	0.0181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0075180187029	0.0005	0.00179712	0.0016	0.0001	0.0012	0	0	0.0011	0.0023	0.0061	0.0013777	213	154602	rs140228596	0.0010	0.0010	0.0007	0.0012	0.0068	0.0009	0.0009	0.0064	0.0062	0.0001	0.0013	3.829e-05	0	0.0001	0.0066	0.0006	0.0015	0.0068	0.0008	0.0008	0.0008	0.0009	0.0058	0.0007	0.0007	0.0041	0.0036	0.0001	0	0.0031	0	0	0	0.0068	0.0006	0	0.0058	0.22	0.18956	T	0.394	0.15305	T	0.0	0.02946	B	0.001	0.04355	B	0.180672	0.17111	N	0.578066	0.984982	0.24752	N	0.49	0.13296	N	2.26	0.17596	T	-0.29	0.11728	N	0.217	0.24260	-1.0091	0.27198	T	0.023	0.09878	T	10	0.0044980347	0.00092	T	0.007518	0.19952	T	0.030	0.07022	.	.	0.138757226776	0.13463	0.05701304665050847	0.05642	0.225153463883	0.25054	0.496408551931	0.38328	T	0.130727	0.45980	T	-0.59564	0.00155	T	-0.625622	0.10749	T	0.0124090065337999	0.00203	T	0.582642	0.21138	T	0.038884904	0.05266	0.043235466	0.05332	0.038884904	0.05266	0.043235466	0.05331	-5.185	0.38789	T	.	.	0.068	0.02829	B	.	.	1.070448	0.14528	11.10	0.92405905492457152	0.21820	0.64535	0.32438	D	AEFDBI	0.196174	0.32317	N	-0.50733603732571	0.21843	1.162116	-0.369900094494517	0.25900	1.427168	0.950309610023665	0.27888	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.5	2.68	0.30839	0.688000	0.25103	0.887000	0.22442	0.676000	0.76740	0.029000	0.20367	0.605000	0.25739	0.993000	0.69303	0.2626:0.0:0.7374:0.0	7.503	0.26699	1	0.99630	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.005051	0.002725	0.000000	0.000000	0.000000	0.009146	0.003788	0.1429	1951.65	54	chr3	49660642	.	G	A	1951.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.316;DP=284;ExcessHet=0.3476;FS=2.119;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=1.68;SOR=0.904	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	2	0
chr3	49661938	49661938	A	G	exonic	BSN	.	nonsynonymous SNV	BSN:NM_003458:exon6:c.A10093G:p.M3365V	.	431	1077	13	1	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00996586508334	0.0005	0.000798722	0.0009	9.673e-05	0.0007	0	0	0.0006	0.0011	0.0037	0.0008473	131	154602	rs146951422	0.0006	0.0006	0.0005	0.0008	0.0092	0.0006	0.0006	0.0072	0.0065	0.0002	0.0005	0.0003	0	1.881e-05	0.0092	0.0004	0.0013	0.0043	0.0005	0.0005	0.0004	0.0005	0.0031	0.0004	0.0003	0.0019	0.0015	2.404e-05	0	0.0003	0.0006	0.0002	9.409e-05	0.0034	0.0006	0.0009	0.0031	0.011	0.55530	D	0.331	0.18505	T	0.08	0.24543	B	0.015	0.17295	B	0.000001	0.84330	D	0.090240	0.999925	0.51308	D	2.495	0.72670	M	2.17	0.19020	T	-0.4	0.13805	N	0.356	0.39760	-1.1143	0.02725	T	0.052	0.22269	T	10	0.009584099	0.00216	T	0.009966	0.25946	T	0.070	0.20419	.	.	0.259504319725	0.25562	0.35587163721322407	0.35501	0.282224212883	0.30686	0.645524144173	0.59349	T	0.130688	0.45973	T	-0.426116	0.01565	T	-0.386018	0.35017	T	0.040544319952568	0.03789	T	0.743426	0.36288	T	0.3934922	0.60278	0.2742302	0.53350	0.3934922	0.60279	0.2742302	0.53349	-3.077	0.11033	T	.	.	0.083	0.09239	B	.	.	2.340571	0.29995	18.30	0.86644216999345014	0.16675	0.92648	0.56208	D	AEFDBI	0.476513	0.51990	N	-0.0556828126491192	0.39348	2.319012	0.082258024400274	0.43657	2.662931	0.999999177194443	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	5.49	4.3	0.50540	3.659000	0.54227	3.533000	0.38964	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.8575:0.1425:0.0:0.0	12.226	0.53775	1	0.99630	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.000000	0.008152	0.017544	0.000000	0.008621	0.012195	0.011364	0.07143	1514.44	38	chr3	49661938	.	A	G	1514.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.382;DP=361;ExcessHet=0;FS=0.593;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=-0.036;SOR=0.797	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr3	49685734	49685734	T	G	splicing	MST1	NM_020998:exon11:c.1251-2A>C	.	.	.	396	1048	78	0	0	78	0.0358786	0.9999	0.908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.0022	0.0048	0.0020	0.0040	0.0032	0.0022	0.0038	0.0011902	184	154602	rs9714011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0312953	0.47230	T	-0.28273	0.46524	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.318552	0.66070	24.9	0.82760893892845555	0.14361	0.84942	0.44038	D	AEFDBCI	.	.	.	0.550271141106862	0.70098	5.451985	0.329790380301468	0.57298	3.894969	0.999999223157914	0.74766	0.199473	0.04044	0	0.09434	0.02614	0	0.215285	0.04585	0	0.109499	0.03221	0	0.244363	0.32384	5.22	4.06	0.46572	2.893000	0.48331	7.791000	0.68894	-0.114000	0.14653	0.998000	0.41325	1.000000	0.68203	0.017000	0.10941	0.1492:0.0819:0.0:0.7689	5.690	0.17097	1	0.99630	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	61.44	36	chr3	49685734	.	T	G	61.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.754;DP=477;ExcessHet=0;FS=30.688;MLEAC=1;MLEAF=0.071;MQ=58.58;MQRankSum=-15.82;QD=0.22;ReadPosRankSum=-2.5;SOR=3.519	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:255,20:275:72:0|1:49685734_T_G:72,0,10406:49685734	6	0	1	0
chr3	49686750	49686750	C	G	exonic	MST1	.	nonsynonymous SNV	MST1:NM_020998:exon7:c.G781C:p.E261Q	.	405	1107	10	0	0	10	0.0044964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0221806078997	.	.	0.0031	0.0060	0.0034	0.0037	0	0.0027	0.0041	0.0031	0.00073	19	26028	rs201944579	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0035	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	9.895e-05	0	0.0005	0	0	9.99e-05	0	0.0002	0.0005	0.0002	0.487	0.08067	T	0.511	0.10785	T	0.575	0.38708	P	0.443	0.45803	B	0.288530	0.14811	N	0.531760	0.993125	0.81001	D	.	.	.	-0.3	0.67874	T	-0.54	0.16598	N	0.315	0.35514	-0.5302	0.67534	T	0.371	0.73016	T	10	0.02078408	0.00485	T	0.022181	0.45042	T	0.197	0.47942	.	.	0.801712144476	0.79986	0.5736695672780171	0.57295	0.763659519793	0.64390	0.596491217613	0.52408	T	.	.	.	0.0232016	0.54813	T	-0.204449	0.54224	T	0.0514656409417245	0.05755	T	0.593441	0.21910	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.31151	B	.	.	3.652228	0.51842	23.2	0.99617675938671457	0.75233	0.77796	0.38294	D	AEFBCI	0.664682	0.63376	D	0.408728035343709	0.61901	4.397673	0.486399716992331	0.67087	5.03744	0.99999999966497	0.74766	0.766844	0.99359	0	0.851219	0.99844	0	0.391439	0.06340	0	0.56751	0.32155	0	.	.	5.75	5.75	0.90390	3.091000	0.49896	7.583000	0.61020	0.598000	0.34611	0.989000	0.36753	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	19.952	0.97204	1	0.99630	Kringle|Kringle, conserved site|Kringle|Kringle|Kringle	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020142	0.035714	0.006925	0.030973	0.000000	0.017544	0.026515	0.020492	0.07143	67.44	63	chr3	49686750	.	C	G	67.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.33;DP=289;ExcessHet=0;FS=18.961;MLEAC=1;MLEAF=0.071;MQ=49.99;MQRankSum=-4.915;QD=1.07;ReadPosRankSum=-1.317;SOR=3.036	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	6	0	1	0
chr3	49718931	49718931	C	G	exonic	AMIGO3	.	nonsynonymous SNV	AMIGO3:NM_198722:exon1:c.G535C:p.G179R	.	0	225	1	0	0	1	0.00221729	.	.	.	3979638	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.082	0.0169838236895	7.7e-05	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs373111160	8.211e-06	8.209e-06	6.808e-06	9.629e-06	0.0002	4.38e-06	3.46e-06	3.09e-06	2.24e-06	0	0	0	0	0	0.0002	7.194e-06	3.312e-05	1.159e-05	1.314e-05	1.313e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.004	0.65419	D	0.257	0.23231	T	0.577	0.38740	P	0.221	0.37837	B	0.043662	0.23716	N	0.481828	1	0.81001	D	1.24	0.30952	L	4.22	0.02640	T	0.26	0.04380	N	0.55	0.57604	-0.9399	0.42632	T	0.012	0.04700	T	10	0.43188748	0.57544	T	0.016984	0.38486	T	0.082	0.23913	.	.	0.603824409933	0.60065	0.439706321122401	0.43887	.	.	0.425559669733	0.28601	T	0.009211	0.08397	T	-0.126916	0.31997	T	-0.420083	0.31065	T	0.55486786365509	0.34660	D	0.69603	0.30552	T	0.13660002	0.31661	0.08750313	0.20343	0.13660002	0.31661	0.08750313	0.20342	-4.04	0.24400	T	.	.	0.250	0.48448	B	.	.	3.401005	0.47136	22.4	0.99809291613719542	0.89353	0.41101	0.26583	N	AEFDGBHCI	.	.	.	0.0185543843319353	0.42700	2.577677	0.0643862611296064	0.42772	2.593044	0.999999999993412	0.74766	0.789315	0.99827	0	0.581341	0.33841	0	0.768056	0.98339	0	0.600526	0.37237	0	.	.	5.21	5.21	0.72005	2.027000	0.40699	5.937000	0.51416	0.599000	0.40250	0.509000	0.27025	1.000000	0.68203	0.090000	0.17789	0.0:0.9129:0.0:0.0871	10.910	0.46314	1	0.99630	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1063.44	34	chr3	49718931	.	C	G	1063.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.166;DP=273;ExcessHet=0;FS=0.824;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-0.73;SOR=0.741	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1334	6	0	1	0
chr3	49722056	49722056	C	T	exonic	GMPPB	.	nonsynonymous SNV	GMPPB:NM_013334:exon8:c.G860A:p.R287Q,GMPPB:NM_021971:exon8:c.G860A:p.R287Q	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, Autosomal recessive	429	1092	1	0	0	1	0.000457666	.	.	YES	75126	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2T|Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B14|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A14|Abnormality_of_the_musculature|GMPPB-related_disorder|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0014142,MedGen:C4518000,OMIM:615352,Orphanet:363623|MONDO:MONDO:0014141,MedGen:C3809221,OMIM:615351|MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350,Orphanet:588|Human_Phenotype_Ontology:HP:0003011,Human_Phenotype_Ontology:HP:0003197,Human_Phenotype_Ontology:HP:0003708,MedGen:C4021745|.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.188	0.120180627272	0.0002	.	0.0002	0	0.0002	0.0001	0	0.0003	0	0	0.0001876	29	154602	rs202160208	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0001	7.541e-05	0	0.0001	0.0054	2.519e-05	0	0.0005	7.554e-05	0.0004	3.478e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	8.876e-05	4.825e-05	0	0	0.0035	0	0	0	0.0002	0.0010	0	0.941	0.03060	T	0.578	0.09205	T	0.003	0.17332	B	0.008	0.13708	B	0.000001	0.62929	D	0.055778	0.985373	0.81001	D	-0.92	0.01311	N	-1.03	0.76430	T	0.14	0.05405	N	0.804	0.79986	-0.9271	0.44559	T	0.122	0.42357	T	10	0.014596343	0.00307	T	0.120181	0.80066	D	0.188	0.46444	.	.	0.756562400578	0.75435	0.6669756657282992	0.66635	0.640746392793	0.57700	0.477246969938	0.35678	T	0.504413	0.82350	D	-0.302679	0.08410	T	-0.354481	0.38690	T	0.030708315807	0.02100	T	0.982502	0.94093	D	0.10202696	0.24104	0.05517497	0.09629	0.104270495	0.24648	0.04905508	0.07417	-5.681	0.47874	T	0.0975306387506497	0.06872	0.121	0.26514	B	.;.;.	.;.;.	3.877928	0.56346	23.7	0.91670247582090048	0.20961	0.74797	0.36599	D	AEFDBCI	0.323425	0.42562	N	-0.339047270605234	0.27676	1.520424	-0.0740276751929228	0.36468	2.122674	0.999999999935642	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.98	4.03	0.46115	4.170000	0.58021	5.858000	0.50403	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.7387:0.0:0.2613	4.624	0.11853	1	0.99630	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	1511.44	35	chr3	49722056	.	C	T	1511.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.54;DP=315;ExcessHet=0;FS=0.662;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=-1.412;SOR=0.779	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1321	6	0	1	0
chr3	49899193	49899193	G	A	exonic	MST1R	.	nonsynonymous SNV	MST1R:NM_001244937:exon2:c.C1301T:p.S434L,MST1R:NM_002447:exon2:c.C1301T:p.S434L	.	416	1068	37	1	0	39	0.017931	.	.	.	3191967	MST1R-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.039	0.00297458851459	0.0008	0.00139776	0.0018	9.623e-05	0.0016	0	0.0003	0.0013	0.0077	0.0061	0.0016171	250	154602	rs2230591	0.0012	0.0012	0.0009	0.0015	0.0175	0.0012	0.0011	0.0147	0.0137	2.987e-05	0.0009	0.0024	7.557e-05	0.0002	0.0175	0.0008	0.0019	0.0068	0.0009	0.0009	0.0008	0.0010	0.0068	0.0008	0.0007	0.0050	0.0044	0.0002	0	0.0005	0.0017	0	0.0002	0.0170	0.0011	0.0028	0.0068	0.634	0.05436	T	0.631	0.07316	T	0.0	0.02946	B	0.004	0.10090	B	0.285864	0.03862	N	1.389580	1	0.08975	N	0.22	0.09567	N	2.82	0.10871	T	-1.29	0.32387	N	0.098	0.09066	-0.9762	0.35860	T	0.008	0.02926	T	10	0.0058416724	0.00130	T	0.002975	0.06339	T	0.039	0.10176	.	.	0.12205267543	0.11705	0.5909671984149649	0.59026	0.16178190297	0.18257	0.258691132069	0.04736	T	0.087701	0.37999	T	-0.686297	0.00044	T	-0.755009	0.03294	T	0.00712579600347077	0.00081	T	0.707329	0.31793	T	0.07501784	0.16873	0.06977867	0.14744	0.11437104	0.27001	0.077430174	0.17248	-6.57	0.50823	T	.	.	0.089	0.12276	B	.;.	.;.	-0.363962	0.02350	0.255	0.78777275926638135	0.12448	0.13711	0.18009	N	AEFDGBHCI	0.177437	0.30467	N	-1.74925140978968	0.00682	0.02941146	-1.7299566151157	0.01011	0.04532415	0.999999999832608	0.74766	0.656854	0.48797	0	0.588066	0.40923	0	0.67347	0.61138	0	0.604944	0.38103	0	.	.	5.82	-7.08	0.01404	-1.930000	0.01648	-0.788000	0.07426	-0.786000	0.03287	0.000000	0.06391	0.000000	0.08366	0.175000	0.21139	0.4178:0.1557:0.1291:0.2974	1.154	0.01681	1	0.99630	Sema domain|Sema domain|Sema domain|RON, Sema domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.010574	0.005051	0.002717	0.020468	0.000000	0.000000	0.021341	0.022727	0.07143	2394.44	39	chr3	49899193	.	G	A	2394.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.654;DP=387;ExcessHet=0;FS=1.139;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=0.077;SOR=0.604	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1426	6	0	1	0
chr3	50288660	50288660	T	C	exonic	IFRD2	.	nonsynonymous SNV	IFRD2:NM_006764:exon10:c.A1075G:p.M359V	.	434	1086	2	0	0	2	0.000919963	.	.	.	3679898	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.039	0.00875864921184	7.8e-05	0.000199681	0.0002	0	0	0	0	0.0003	0	0	0.0001423	22	154602	rs199606756	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0003	0.0002	8.961e-05	0	7.652e-05	0	0	0.0009	0.0002	0.0002	0	7.248e-05	7.228e-05	3.868e-05	0.0001	0.0001	3.982e-05	3.135e-05	4.778e-05	3.347e-05	4.834e-05	0	0.0001	0	0	0	0	0.0001	0	0	0.327	0.13262	T	0.317	0.19539	T	0.0	0.02946	B	0.0	0.01387	B	0.002078	0.37317	N	0.299519	0.737045	0.29772	N	-1.24	0.00794	N	1.28	0.35960	T	0.12	0.05604	N	0.174	0.18649	-1.0605	0.11632	T	0.026	0.11264	T	10	0.025337994	0.00731	T	0.008759	0.23123	T	0.039	0.10176	.	.	0.180583059064	0.17676	0.13279452600278402	0.13203	.	.	0.260798603296	0.04986	T	0.012958	0.11294	T	-0.467245	0.00885	T	-0.614107	0.11654	T	0.0388198215631546	0.03479	T	0.748825	0.36981	T	0.020228544	0.00574	0.036310967	0.03054	0.020228544	0.00574	0.036310967	0.03053	-2.338	0.04767	T	.	.	0.048	0.00109	B	.;.	.;.	1.816316	0.23080	15.88	0.76313311754486257	0.11418	0.63636	0.32151	D	AEFBCI	0.150557	0.27487	N	-0.745268475772219	0.14762	0.7381339	-0.496620745627793	0.22246	1.207414	0.995300968349998	0.34055	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.93	2.81	0.31971	2.134000	0.41725	2.192000	0.31216	-0.172000	0.11096	0.982000	0.35529	0.984000	0.30665	0.996000	0.76049	0.0:0.4994:0.1706:0.33	4.052	0.09278	3	0.99430	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	154.44	40	chr3	50288660	.	T	C	154.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.393;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=0;SOR=0.79	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1146	6	0	1	0
chr3	50295070	50295070	C	T	exonic	HYAL3	.	nonsynonymous SNV	HYAL3:NM_001200029:exon2:c.G533A:p.R178H,HYAL3:NM_001200030:exon2:c.G533A:p.R178H,HYAL3:NM_003549:exon2:c.G533A:p.R178H	.	417	1041	59	5	0	69	0.0320781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	.	0.0035	0.00539137	0.0053	0.0006	0.0045	0	0	0.0045	0.01	0.0171	0.004877	754	154602	rs139756596	0.0039	0.0039	0.0034	0.0044	0.0178	0.0038	0.0038	0.0170	0.0167	0.0007	0.0040	0.0331	0	7.569e-05	0.0168	0.0024	0.0061	0.0178	0.0032	0.0032	0.0030	0.0034	0.0170	0.0029	0.0028	0.0140	0.0129	0.0006	0	0.0041	0.0331	0	0.0002	0.0102	0.0027	0.0028	0.0170	0.004	0.65419	D	0.029	0.65728	D	1.0	0.90584	D	0.999	0.97372	D	0.000042	0.53742	U	0.069612	0.990805	0.81001	D	3.48	0.92553	M	1.72	0.26588	T	-3.56	0.68880	D	0.299	0.33796	-0.7459	0.58149	T	0.140	0.45922	T	10	0.006772101	0.00154	T	.	.	.	0.250	0.55888	.	.	0.104622674875	0.10061	0.7554816360088094	0.75495	0.737908363262	0.63085	0.288535296917	0.08710	T	0.446394	0.78906	T	-0.423238	0.01632	T	-0.367103	0.37227	T	0.0763690686936043	0.09517	T	0.819918	0.47811	T	0.22886135	0.45613	0.2439974	0.49856	0.22886135	0.45613	0.2439974	0.49855	-7.173	0.55288	T	.	.	0.107	0.22098	B	.;.;.;.	.;.;.;.	3.297172	0.45244	22.1	0.99949030492686874	0.99931	0.33740	0.24901	N	AEFBCI	.	.	.	0.351077098192796	0.58796	4.054184	0.17647269697279	0.48562	3.07037	0.999997892522706	0.74766	0.615465	0.37627	0	0.550933	0.16991	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.74	2.89	0.32713	0.397000	0.20608	1.098000	0.24042	-0.186000	0.09761	0.024000	0.20007	0.869000	0.27571	0.945000	0.48827	0.0:0.8124:0.0:0.1876	9.003	0.35256	3	0.99430	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015106	0.005051	0.012228	0.029240	0.000000	0.017241	0.018293	0.015152	0.1429	2154.29	34	chr3	50295070	.	C	T	2154.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.03;DP=316;ExcessHet=0.3476;FS=1.876;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-0.52;SOR=0.581	GT:AD:DP:GQ:PL	0/1:40,57:97:99:1268,0,835	5	0	2	0
chr3	50302196	50302196	C	A	exonic	HYAL1	.	nonsynonymous SNV	HYAL1:NM_033159:exon2:c.G761T:p.G254V,HYAL1:NM_153282:exon2:c.G761T:p.G254V,HYAL1:NM_153283:exon2:c.G215T:p.G72V,HYAL1:NM_153281:exon4:c.G761T:p.G254V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.0433868190172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.026	0.55759	D	0.998	0.73220	D	0.96	0.70309	D	0.000043	0.53742	D	0.161330	1	0.81001	D	2.985	0.85602	M	1.91	0.23283	T	-3.74	0.71042	D	0.243	0.30800	-0.9239	0.45013	T	0.144	0.46732	T	10	0.22635996	0.39489	T	0.043387	0.60956	D	0.176	0.44373	0.536	0.64585	0.370424759081	0.36655	0.8171004189066058	0.81666	0.50988881724	0.49125	0.301397740841	0.10609	T	0.623874	0.88250	D	-0.106906	0.35280	T	-0.39134	0.34395	T	0.987611711025238	0.78075	D	0.782522	0.41827	T	0.65775895	0.75779	0.31777048	0.57749	0.65775895	0.75780	0.31777048	0.57749	-7.999	0.66230	D	.	.	0.182	0.39865	B	.;.;.;.;.;.	.;.;.;.;.;.	4.228273	0.64011	24.7	0.99709552362893772	0.81213	0.31240	0.24287	N	AEFGBCI	0.339018	0.43630	N	0.133650565890316	0.48038	3.021323	0.0355613493111284	0.41378	2.485002	0.999998073253066	0.74766	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.645665	0.59343	0	.	.	5.46	4.59	0.56297	0.380000	0.20331	2.169000	0.31039	-0.176000	0.10722	0.051000	0.21449	0.998000	0.33993	0.800000	0.37734	0.157:0.7624:0.0:0.0806	8.090	0.29956	3	0.99430	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	977.49	33	chr3	50302196	.	C	A	977.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.04;DP=296;ExcessHet=0;FS=4.845;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.14;ReadPosRankSum=-0.756;SOR=1.036	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1343:.	6	0	1	0
chr3	50342546	50342546	T	C	exonic	ZMYND10	.	nonsynonymous SNV	ZMYND10:NM_001308379:exon7:c.A709G:p.S237G,ZMYND10:NM_015896:exon8:c.A724G:p.S242G	Ciliary dyskinesia, primary, 22, Autosomal recessive	426	1095	1	0	0	1	0.000456413	.	.	.	559588	Inborn_genetic_diseases|Primary_ciliary_dyskinesia	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.097	0.00287728924572	.	.	5.052e-05	0	0	0	0	6.109e-05	0	0.0001	3.88e-05	6	154602	rs761674579	3.764e-05	3.762e-05	3.676e-05	3.852e-05	0.0012	2.961e-05	2.657e-05	0.0006	0.0004	2.988e-05	2.237e-05	0	0	0	0.0012	3.149e-05	6.625e-05	8.116e-05	3.943e-05	3.94e-05	3.854e-05	4.036e-05	7.35e-05	1.715e-05	1.129e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.000000	0.84330	N	0.087906	0.799	0.29133	N	-1.695	0.00361	N	.	.	.	1.31	0.02195	N	0.204	0.22614	-1.0026	0.29168	T	0.027	0.11529	T	9	0.046953708	0.03951	T	0.002877	0.06074	T	0.097	0.27909	0.37	0.38013	0.0138822411134	0.00435	0.13539069650394472	0.13463	0.145835923067	0.16471	0.314511865377	0.12589	T	0.088362	0.38141	T	-0.295213	0.09118	T	-0.480301	0.24414	T	0.0111235967916884	0.00162	T	0.60094	0.22456	T	0.10061424	0.23759	0.09970108	0.23814	0.10061424	0.23759	0.09970108	0.23814	-0.022	0.00999	T	0.04093206202061082	0.00379	0.046	0.00136	B	.;.;.	.;.;.	0.894858	0.12684	9.208	0.56998218893019115	0.05673	0.07567	0.13579	N	AEFBI	0.125638	0.24222	N	-0.905824988714973	0.10705	0.5128622	-0.663683247047754	0.17871	0.9522258	0.999999761360093	0.74766	0.582742	0.33608	0	0.547309	0.14657	0	0.61531	0.40942	0	0.645665	0.59343	0	.	.	5.77	3.99	0.45527	3.878000	0.55843	3.314000	0.37488	-0.201000	0.08892	0.998000	0.41325	0.998000	0.33993	0.006000	0.07323	0.0:0.8449:0.0:0.1551	10.215	0.42339	2	0.99499	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.005051	0.000000	0.000000	0.000000	0.000000	0.003086	0.000000	0.07143	102.44	38	chr3	50342546	.	T	C	102.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.981;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=0.06;SOR=0.18	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1155	6	0	1	0
chr3	50366072	50366072	T	C	exonic	CACNA2D2	.	nonsynonymous SNV	CACNA2D2:NM_001005505:exon32:c.A2801G:p.Q934R,CACNA2D2:NM_001291101:exon32:c.A2594G:p.Q865R,CACNA2D2:NM_006030:exon32:c.A2801G:p.Q934R,CACNA2D2:NM_001174051:exon33:c.A2822G:p.Q941R	.	423	1096	1	2	0	5	0.00227583	.	.	.	239254	Developmental_and_epileptic_encephalopathy|Cerebellar_atrophy_with_seizures_and_variable_developmental_delay|Inborn_genetic_diseases	MONDO:MONDO:0100620,MedGen:C5779964|MONDO:MONDO:0032788,MedGen:C5193132,OMIM:618501|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.806	0.163911981248	7.7e-05	0.000599042	0.0004	0	0.0004	0	0	0.0003	0	0.0011	0.0003493	54	154602	rs191208192	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0002	0.0008	0.0007	5.974e-05	0.0006	0.0005	0	0	0.0010	0.0002	0.0004	0.0009	0.0003	0.0003	0.0002	0.0004	0.0010	0.0002	0.0002	0.0005	0.0004	2.408e-05	0	0.0008	0.0017	0	0	0	0.0003	0.0014	0.0010	0.0	0.91255	D	0.053	0.47336	T	0.999	0.77913	D	0.983	0.75793	D	0.000070	0.52346	D	0.132059	0.998541	0.45064	D	2.97	0.85306	M	-0.73	0.73100	T	-3.04	0.62863	D	0.961	0.97643	-0.0114	0.82020	T	0.424	0.76816	T	10	0.4275589	0.57275	T	0.163912	0.84314	D	0.806	0.93699	.	.	0.917962880508	0.91713	0.9794021129118513	0.97931	1.41931001334	0.85588	0.659374713898	0.61319	T	0.184262	0.77206	T	0.0955439	0.63808	D	0.314025	0.88835	D	0.145676993046513	0.16754	T	0.956054	0.83312	D	0.7710684	0.82113	0.8093311	0.88858	0.7710684	0.82114	0.8093311	0.88859	-9.98	0.74026	D	.	.	0.574	0.72692	P	.;.;.;.;.;.	.;.;.;.;.;.	4.690340	0.75145	26.3	0.99824127955571129	0.90677	0.98540	0.83876	D	AEFDGBI	0.917195	0.88445	D	0.752043955480316	0.83036	7.91359	0.718553823079579	0.83790	8.114556	0.999999999996812	0.74766	0.766844	0.99359	0	0.609123	0.50646	0	0.851219	0.99655	0	0.620976	0.48614	0	.	.	5.21	5.21	0.72005	7.578000	0.81790	7.833000	0.70197	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	13.345	0.60008	2	0.99499	Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region;Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region;.;.;.;Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	771.83	34	chr3	50366072	.	T	C	771.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.31;DP=238;ExcessHet=0;FS=0.983;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.377;SOR=0.504	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1186	6	0	1	0
chr3	51310256	51310256	G	A	exonic	DOCK3	.	nonsynonymous SNV	DOCK3:NM_004947:exon28:c.G2947A:p.V983M	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.0321642382459	8.2e-05	.	1.767e-05	0	0	0	0	3.332e-05	0	0	6.5e-06	1	154602	rs375470911	1.515e-05	1.71e-05	1.505e-05	1.526e-05	7.156e-05	9.92e-06	8.47e-06	3.066e-05	2.085e-05	0	0	0	0	1.892e-05	0	1.084e-05	4.989e-05	7.156e-05	2.629e-05	2.627e-05	1.285e-05	4.035e-05	0.0006	8.14e-06	5.14e-06	0.0002	9.011e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.414	0.10020	T	0.044	0.49663	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.375	0.34280	L	-0.3	0.67874	T	-1.52	0.36980	N	0.546	0.57263	-0.2894	0.75282	T	0.449	0.78396	T	10	0.41431028	0.56437	T	0.032164	0.54066	D	0.399	0.71321	.	.	0.90084601261	0.89986	0.6320617830300258	0.63140	0.608241247554	0.55603	0.916449189186	0.98041	D	0.217704	0.58022	T	0.299656	0.82940	D	0.192658	0.82720	D	0.664718389511108	0.39103	D	0.975502	0.91380	D	0.35313118	0.57309	0.38136908	0.63147	0.35313118	0.57310	0.38136908	0.63147	-10.606	0.77454	D	.	.	0.724	0.73971	P	.	.	4.932113	0.81324	27.5	0.99819684983299561	0.90238	0.90220	0.51225	D	AEFDBI	0.558839	0.56790	D	0.789667297170267	0.85453	8.581037	0.806730691067575	0.90255	10.32583	0.999999998219124	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.83	5.83	0.93059	7.752000	0.84018	9.839000	0.81912	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.121	0.97960	8	0.99202	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	648.44	35	chr3	51310256	.	G	A	648.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.357;DP=252;ExcessHet=0;FS=1.984;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=0.578;SOR=0.468	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1166	6	0	1	0
chr3	51633722	51633722	G	A	exonic	RAD54L2	.	nonsynonymous SNV	RAD54L2:NM_001322256:exon7:c.G971A:p.R324H,RAD54L2:NM_015106:exon8:c.G971A:p.R324H,RAD54L2:NM_001322253:exon9:c.G971A:p.R324H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.667	0.0999296404482	.	.	1.648e-05	0	0	0	0	1.499e-05	0	6.057e-05	1.29e-05	2	154602	rs755810370	9.578e-06	1.026e-05	8.168e-06	1.1e-05	4.638e-05	5.56e-06	4.35e-06	1.583e-05	9.3e-06	2.987e-05	0	0	0	1.873e-05	0	7.195e-06	0	4.638e-05	2.63e-05	2.627e-05	5.142e-05	0	4.83e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.83e-05	0	0	0	0	0	0	2.94e-05	0	0	0.007	0.59928	D	0.004	0.74150	D	1.0	0.90584	D	0.991	0.79672	D	0.000293	0.46274	N	0.191452	0.99981	0.49394	D	1.7	0.43825	L	-3.14	0.92884	D	-4.62	0.79143	D	0.165	0.17416	0.659	0.92659	D	0.807	0.93486	D	10	0.49480677	0.61203	T	0.09993	0.77188	D	0.667	0.87625	0.475	0.55182	0.808897337031	0.80710	0.7720502148102353	0.77155	0.852843786159	0.68628	0.753886163235	0.75020	T	0.823648	0.95715	D	0.0768209	0.61665	D	-0.0305744	0.68331	D	0.98404735326767	0.75491	D	0.975469	0.91344	D	0.0789603	0.18011	0.09036409	0.21186	0.0789603	0.18011	0.09036409	0.21186	-8.749	0.66067	D	.	.	0.099	0.16843	B	.	.	5.092826	0.85052	28.5	0.99954788859526689	0.99969	0.97244	0.73544	D	AEFBI	0.683055	0.64586	D	0.607768500904079	0.73665	6.003418	0.569517972276597	0.72764	5.861781	0.995103996114631	0.33954	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.19	4.32	0.50899	5.932000	0.69838	9.854000	0.82009	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.1676:0.0:0.8324:0.0	9.001	0.35245	6	0.99319	SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1517.46	33	chr3	51633722	.	G	A	1517.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.629;DP=276;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=-0.69;SOR=0.758	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1123	6	0	1	0
chr3	51944466	51944466	G	A	exonic	PARP3	.	nonsynonymous SNV	PARP3:NM_001003931:exon4:c.G389A:p.R130Q,PARP3:NM_001370240:exon4:c.G389A:p.R130Q,PARP3:NM_005485:exon4:c.G389A:p.R130Q,PARP3:NM_001370239:exon5:c.G389A:p.R130Q	.	.	.	.	.	.	.	.	.	.	.	4002126	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00536081443067	.	.	1.657e-05	0	0	0	0	3e-05	0	0	1.29e-05	2	154602	rs778185003	6.225e-05	6.225e-05	6.262e-05	6.188e-05	7.734e-05	5.161e-05	4.78e-05	6.409e-05	5.91e-05	5.974e-05	0	0	5.038e-05	0	0	7.734e-05	1.656e-05	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.438	0.14793	T	0.317	0.22154	T	0.004	0.16867	B	0.004	0.10090	B	0.046111	0.23471	N	0.473779	0.976986	0.25341	N	1.085	0.27262	L	2.22	0.18248	T	-0.5	0.19297	N	0.103	0.08786	-0.9937	0.31643	T	0.020	0.08453	T	10	0.053221583	0.05480	T	0.005361	0.13740	T	0.023	0.04649	.	.	0.252162846088	0.24830	0.2518949149987029	0.25103	0.0676534532402	0.07564	0.185866594315	0.00160	T	0.00526	0.04708	T	-0.375365	0.03331	T	-0.607834	0.12161	T	0.0241625860242272	0.01165	T	0.810819	0.46223	T	0.028555272	0.02212	0.064886846	0.13071	0.028555272	0.02211	0.064886846	0.13070	-6.783	0.52433	T	.	.	0.081	0.11317	B	.;.;.;.	.;.;.;.	1.636144	0.20887	14.95	0.94487637569417726	0.24949	0.62309	0.31742	D	AEFDBI	0.135887	0.25637	N	-1.042695297392	0.07731	0.3601569	-0.940540979183892	0.11142	0.5658904	0.999446133371307	0.39736	0.719381	0.83141	0	0.723133	0.82719	0	0.577349	0.28860	0	0.755437	0.99637	0	.	.	5.23	-0.827	0.10256	0.655000	0.24618	-0.420000	0.09290	-0.845000	0.02763	0.895000	0.31310	0.000000	0.08366	0.809000	0.38129	0.4777:0.0:0.5223:0.0	10.290	0.42771	266	0.89551	WGR domain|WGR domain;WGR domain|WGR domain;.;WGR domain|WGR domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	752.44	42	chr3	51944466	.	G	A	752.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.635;DP=270;ExcessHet=0;FS=0.912;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-0.204;SOR=0.876	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1279	6	0	1	0
chr3	52248442	52248442	C	G	exonic	PPM1M	.	nonsynonymous SNV	PPM1M:NM_001122870:exon5:c.C267G:p.H89Q,PPM1M:NM_144641:exon6:c.C903G:p.H301Q	.	423	1078	20	0	1	21	0.00919118	.	.	.	4013932	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.035	0.00853430768125	0.0051	0.00319489	0.0060	0.0009	0.0057	0	0.0023	0.0071	0.0069	0.0091	0.001216	188	154602	rs116696868	0.0067	0.0068	0.0068	0.0067	0.0090	0.0066	0.0066	0.0085	0.0083	0.0010	0.0042	0.0038	5.039e-05	0.0022	0.0057	0.0074	0.0055	0.0090	0.0043	0.0043	0.0045	0.0042	0.0089	0.0040	0.0039	0.0069	0.0067	0.0006	0	0.0028	0.0023	0.0002	0.0021	0.0102	0.0074	0.0038	0.0089	0.273	0.15876	T	0.293	0.21011	T	0.68	0.41398	P	0.212	0.37394	B	0.282013	0.14927	N	0.654726	0.999573	0.47641	D	0.405	0.12330	N	1.61	0.40469	T	-2.04	0.46842	N	0.528	0.55713	-0.9527	0.40503	T	0.121	0.42079	T	10	0.011079937	0.00244	T	0.008534	0.22557	T	0.035	0.08770	0.403	0.43408	0.528109557721	0.52457	0.33801899207430147	0.33714	0.358361118435	0.37549	0.442859679461	0.30969	T	0.024872	0.19245	T	-0.486087	0.00683	T	-0.464468	0.26113	T	0.0112913582151383	0.00167	T	0.882712	0.61581	D	0.21693349	0.44164	0.15779182	0.36879	0.21693349	0.44164	0.15779182	0.36878	-7.673	0.58820	D	.	.	0.141	0.37044	B	.;.;.	.;.;.	3.088768	0.41578	21.4	0.96755822203726249	0.30980	0.91598	0.53864	D	AEFDGBCI	0.560679	0.56898	D	0.15993153743701	0.49283	3.130438	0.25061974809297	0.52683	3.441666	0.999999999999692	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.696353	0.63694	0	0.711	0.71501	0	.	.	4.5	4.5	0.54382	4.568000	0.60573	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	15.537	0.75751	137	0.94565	PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain;PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.017241	0.009146	0.007576	0.07143	1065.53	35	chr3	52248442	.	C	G	1065.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.22;DP=262;ExcessHet=0;FS=0.785;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0.075;SOR=0.821	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1161	6	0	1	0
chr3	52783126	52783126	G	A	splicing	ITIH1	NM_002215:exon9:c.1099+1G>A;NM_001166434:exon7:c.673+1G>A;NM_001166435:exon5:c.235+1G>A;NM_001166436:exon5:c.235+1G>A	.	.	.	425	1090	7	0	0	7	0.00320073	1.0000	0.804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00179712	0.0007	0.0002	8.684e-05	0	0	0.0001	0.0011	0.0046	0.0006533	101	154602	rs143471792	0.0003	0.0003	0.0002	0.0005	0.0046	0.0003	0.0003	0.0043	0.0041	0	8.944e-05	0	0	0	0.0016	4.227e-05	0.0004	0.0046	0.0003	0.0003	0.0002	0.0004	0.0056	0.0002	0.0002	0.0040	0.0034	4.821e-05	0	6.616e-05	0	0	0	0	0.0001	0.0005	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.247476	0.14411	T	-0.127855	0.61152	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.882059	0.93934	33	0.96362444550674142	0.29557	0.98442	0.82821	D	AEFBI	.	.	.	0.730373224314331	0.81625	7.565956	0.519768001526731	0.69322	5.343761	0.996777427870379	0.34998	0.080785	0.02172	0	0.096583	0.02683	0	0.060301	0.00762	0	0.075334	0.01956	0	0.808751	0.48002	5.37	4.5	0.54382	3.675000	0.54340	9.831000	0.81862	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.712000	0.34516	0.0912:0.0:0.9088:0.0	9.900	0.40509	33	0.98110	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2722.53	38	chr3	52783126	.	G	A	2722.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.193;DP=383;ExcessHet=0;FS=3.289;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=0.602;SOR=0.846	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr3	52794886	52794886	G	A	exonic	ITIH3	.	nonsynonymous SNV	ITIH3:NM_002217:exon1:c.G83A:p.R28Q	.	.	.	.	.	.	.	.	.	.	.	3972884	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.00566929870999	.	.	8.283e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs768027400	1.3e-05	1.3e-05	8.17e-06	1.788e-05	0.0001	8.32e-06	6.7e-06	3.983e-05	2.373e-05	0.0001	2.236e-05	0	2.519e-05	0	0	8.995e-06	4.969e-05	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.323	0.26519	T	0.457	0.21545	T	0.076	0.24253	B	0.005	0.11217	B	0.272681	0.15097	N	0.637307	1	0.08975	N	0	0.06538	N	4.21	0.02664	T	-0.91	0.24460	N	0.127	0.12055	-0.8983	0.48165	T	0.004	0.01365	T	10	0.05555588	0.06092	T	0.005669	0.14681	T	0.019	0.03383	0.426	0.47185	0.0986583533028	0.09354	0.3112294000128291	0.31035	0.121607008955	0.13703	0.239352524281	0.02732	T	0.019231	0.15359	T	-0.322245	0.06715	T	-0.637013	0.09888	T	0.0658691433709306	0.08059	T	0.773923	0.40554	T	0.030365486	0.02687	0.05436081	0.09337	0.030365486	0.02687	0.05436081	0.09336	-3.927	0.22708	T	.	.	0.096	0.15430	B	.;.;.	.;.;.	1.162022	0.15510	11.90	0.7004110771835198	0.09166	0.08672	0.14568	N	AEFDGBHCI	0.752369	0.69289	D	-1.79634191037613	0.00554	0.02386372	-1.75392280059826	0.00919	0.0410944	0.999999990246751	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.89	-0.174	0.12665	0.044000	0.13876	-0.169000	0.11245	-1.700000	0.00758	0.022000	0.19841	0.000000	0.08366	0.036000	0.13842	0.231:0.0:0.519:0.25	5.118	0.14176	33	0.98110	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	389.63	27	chr3	52794886	.	G	A	389.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.68;DP=195;ExcessHet=0;FS=3.471;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-0.722;SOR=1.501	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1185	6	0	1	0
chr3	52818090	52818090	C	T	exonic	ITIH4	.	nonsynonymous SNV	ITIH4:NM_001166449:exon18:c.G2168A:p.R723H,ITIH4:NM_002218:exon20:c.G2258A:p.R753H	.	405	1109	8	0	0	8	0.00359389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0008	0.00219649	0.0012	0.0007	0.0002	0.0001	0	0.0009	0.0011	0.0046	0.0012484	193	154602	rs61729487	0.0012	0.0012	0.0011	0.0013	0.0045	0.0011	0.0011	0.0041	0.0040	0.0004	0.0005	7.653e-05	0.0001	0	0.0027	0.0011	0.0012	0.0045	0.0009	0.0009	0.0008	0.0009	0.0054	0.0007	0.0007	0.0038	0.0032	0.0003	0	0.0008	0	0	0	0	0.0011	0.0019	0.0054	0.146	0.25255	T	0.101	0.39799	T	0.0	0.02946	B	0.001	0.04355	B	0.947267	0.08312	N	0.972957	1	0.08975	N	0.41	0.12415	N	4.96	0.01376	T	-0.68	0.19509	N	0.065	0.10056	-0.8903	0.48908	T	0.004	0.01330	T	10	0.004061371	0.00079	T	.	.	.	0.028	0.06331	.	.	0.202086224978	0.19791	0.20803629097237358	0.20719	0.336045285485	0.35606	0.233632564545	0.02247	T	0.20517	0.56416	T	-0.731288	0.00023	T	-0.822954	0.01394	T	0.0033041020512021	0.00035	T	0.563744	0.19863	T	0.030768884	0.02799	0.023521496	0.00365	0.030768884	0.02799	0.023521496	0.00365	-4.005	0.24935	T	0.08938538479605578	0.05458	0.072	0.04436	B	.;.;.	.;.;.	0.801986	0.11727	8.304	0.85760746883729011	0.16095	0.01268	0.04441	N	AEFDGBI	0.244779	0.36583	N	-1.43738044141622	0.02318	0.1022065	-1.42375187131191	0.03015	0.1398891	0.991753686844691	0.32597	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.8	1.84	0.24348	-0.077000	0.11356	2.844000	0.35098	-2.189000	0.00360	0.000000	0.06391	0.162000	0.23270	0.006000	0.07323	0.0978:0.3129:0.4284:0.1609	3.346	0.06719	59	0.97452	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003528	0.000000	0.001362	0.008772	0.000000	0.017241	0.000000	0.003788	0.07143	872.46	64	chr3	52818090	.	C	T	872.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.34;DP=311;ExcessHet=0;FS=3.942;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=1.16;SOR=0.689	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1149	6	0	1	0
chr3	52840512	52840513	GC	-	exonic	STIMATE;STIMATE-MUSTN1	.	frameshift deletion	STIMATE-MUSTN1:NM_001198974:exon8:c.866_867del:p.R289Lfs*49,STIMATE:NM_198563:exon8:c.866_867del:p.R289Lfs*59	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	67.4	34	chr3	52840511	.	AGC	A	67.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.85;ReadPosRankSum=-1.383;SOR=0.693	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	6	0	1	0
chr3	52852692	52852692	T	G	exonic	STIMATE;STIMATE-MUSTN1	.	nonsynonymous SNV	STIMATE-MUSTN1:NM_001198974:exon3:c.A216C:p.L72F,STIMATE:NM_198563:exon3:c.A216C:p.L72F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.509	0.00373680548302	.	.	8.297e-06	0	8.693e-05	0	0	0	0	0	6.5e-06	1	154602	rs758297728	6.157e-06	6.156e-06	0	1.238e-05	8.116e-05	2.9e-06	2.1e-06	3.766e-05	2.662e-05	0	0	0	0	0	0	0	3.312e-05	8.116e-05	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.05137	T	0.632	0.07419	T	0.941	0.52883	P	0.701	0.54186	P	0.000011	0.62929	U	0.000000	0.999999	0.58761	D	.	.	.	.	.	.	1.64	0.00621	N	0.719	0.72120	-1.0941	0.04884	T	0.093	0.35444	T	9	0.24905866	0.42211	T	0.003737	0.08682	T	0.509	0.78910	0.472	0.54699	0.043077524339	0.03247	0.7446753400130378	0.77411	1.3426112449	0.95159	0.849400520325	0.89524	D	0.011695	0.10398	T	-0.103636	0.35822	T	-0.183043	0.56240	T	0.609934687614441	0.36798	D	0.935306	0.75759	D	0.0651618	0.13899	0.09445641	0.22358	0.0651618	0.13898	0.09445641	0.22358	-5.5	0.41868	T	.	.	0.311	0.53846	B	.;.	.;.	2.240074	0.28600	17.85	0.94525253848546587	0.25020	0.79839	0.39643	D	AEFBI	0.168358	0.29511	N	-0.136258249727676	0.35821	2.062472	-0.0637014865483604	0.36904	2.153682	0.979365204325877	0.30020	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.42	1.64	0.22949	1.001000	0.29384	3.475000	0.38608	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.3987:0.0:0.6013	8.560	0.32664	123	0.95099	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1339.63	40	chr3	52852692	.	T	G	1339.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.34;DP=289;ExcessHet=0;FS=1.568;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.729;SOR=0.909	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1463	6	0	1	0
chr3	53292458	53292458	G	T	exonic	DCP1A	.	nonsynonymous SNV	DCP1A:NM_001290207:exon5:c.C517A:p.P173T,DCP1A:NM_001290204:exon6:c.C880A:p.P294T,DCP1A:NM_001290206:exon6:c.C631A:p.P211T,DCP1A:NM_018403:exon7:c.C994A:p.P332T,DCP1A:NM_001290205:exon8:c.C778A:p.P260T	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0505120082266	0.0062	0.00139776	0.0050	0.0008	0.0025	0	0.0064	0.0075	0.0022	0.0012	0.005181	801	154602	rs34229192	0.0069	0.0069	0.0071	0.0067	0.0081	0.0068	0.0067	0.0080	0.0079	0.0011	0.0021	0.0078	0	0.0047	0.0028	0.0081	0.0052	0.0014	0.0049	0.0049	0.0052	0.0046	0.0080	0.0046	0.0045	0.0074	0.0072	0.0014	0	0.0035	0.0075	0	0.0054	0	0.0080	0.0024	0.0006	.	.	.	0.56	0.18959	T	0.002	0.09854	B	0.004	0.10090	B	.	.	.	.	.	.	.	1.95	0.52479	M	.	.	.	.	.	.	0.27	0.36464	.	.	.	.	.	.	.	0.0080038905	0.00182	T	0.050512	0.64274	D	.	.	.	.	0.324009150485	0.32011	0.38244878352603096	0.38159	.	.	0.338424742222	0.16202	T	0.01075	0.09672	T	-0.269599	0.11801	T	-0.154064	0.58883	T	.	.	.	0.828817	0.49341	T	0.2888838	0.51888	0.5038363	0.71320	0.2888838	0.51888	0.5038363	0.71320	-3.917	0.22557	T	.	.	0.064	0.04002	B	.;.	.;.	2.125515	0.27058	17.33	0.86176792881069075	0.16363	0.86977	0.46383	D	AEFGBCI	0.222494	0.34698	N	.	.	.	.	.	.	0.974666095230642	0.29562	0.283894	0.04978	0	0.271743	0.05004	0	0.299256	0.05649	0	0.375513	0.06772	0	.	.	4.86	3.97	0.45241	1.717000	0.37612	4.615000	0.44052	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1573:0.8427:0.0	13.421	0.60447	446	0.79659	.;.	.	.	.	.	rs34229192	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1125.44	100	chr3	53292458	.	G	T	1125.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.876;DP=300;ExcessHet=0;FS=2.566;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=-1.216;SOR=0.89	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1232	6	0	1	0
chr3	53292562	53292562	G	C	exonic	DCP1A	.	nonsynonymous SNV	DCP1A:NM_001290207:exon5:c.C413G:p.A138G,DCP1A:NM_001290204:exon6:c.C776G:p.A259G,DCP1A:NM_001290206:exon6:c.C527G:p.A176G,DCP1A:NM_018403:exon7:c.C890G:p.A297G,DCP1A:NM_001290205:exon8:c.C674G:p.A225G	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0349665841121	0.0063	0.00139776	0.0050	0.0008	0.0025	0	0.0064	0.0075	0.0022	0.0012	0.0051875	802	154602	rs35988197	0.0069	0.0069	0.0071	0.0067	0.0081	0.0068	0.0067	0.0080	0.0079	0.0010	0.0021	0.0078	0	0.0047	0.0028	0.0081	0.0052	0.0014	0.0049	0.0049	0.0052	0.0045	0.0079	0.0046	0.0045	0.0074	0.0072	0.0014	0	0.0035	0.0075	0	0.0053	0	0.0079	0.0024	0.0006	.	.	.	0.389	0.21011	T	0.988	0.62325	D	0.76	0.56425	P	.	.	.	.	.	.	.	1.78	0.46185	L	.	.	.	.	.	.	0.395	0.49692	.	.	.	.	.	.	.	0.009402096	0.00212	T	0.034967	0.56032	D	.	.	.	.	0.541875923249	0.53840	0.2256122484868594	0.22476	.	.	0.470529198647	0.34753	T	0.011278	0.10082	T	-0.224975	0.17318	T	-0.0899644	0.64164	T	.	.	.	0.849315	0.53201	T	0.16626175	0.36950	0.48547235	0.70218	0.16626175	0.36949	0.48547235	0.70219	-4.523	0.31188	T	.	.	0.131	0.39064	B	.;.	.;.	3.857926	0.55934	23.7	0.83482152682483601	0.14750	0.95973	0.66961	D	AEFBI	0.498457	0.53255	N	.	.	.	.	.	.	0.9933578246098	0.33183	0.283894	0.04978	0	0.271743	0.05004	0	0.299256	0.05649	0	0.375513	0.06772	0	.	.	5.31	5.31	0.75063	4.873000	0.62751	9.559000	0.80991	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1442:0.8558:0.0	14.743	0.69087	446	0.79659	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1054.44	92	chr3	53292562	.	G	C	1054.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.953;DP=280;ExcessHet=0;FS=0.788;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-0.971;SOR=0.561	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1232	6	0	1	0
chr3	53823399	53823399	C	T	exonic	CHDH	.	nonsynonymous SNV	CHDH:NM_018397:exon3:c.G610A:p.E204K	.	418	1101	3	0	0	3	0.00136054	.	.	.	3422620	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.039	0.0282215477471	.	.	7.86e-05	0	0	0	0	0.0001	0	0	3.88e-05	6	154602	rs771398046	4.615e-05	4.652e-05	4.927e-05	4.299e-05	0.0012	3.687e-05	3.37e-05	0.0006	0.0004	0	2.284e-05	0	0	0	0.0012	4.426e-05	8.351e-05	5.918e-05	4.599e-05	4.596e-05	5.137e-05	4.035e-05	0.0002	2.109e-05	1.527e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.82e-05	0	0.0002	0.257	0.16738	T	0.332	0.18449	T	0.025	0.19245	B	0.026	0.20792	B	0.000670	0.42516	D	0.235426	0.504587	0.31697	N	0.89	0.21648	L	1.03	0.40469	T	-1.55	0.37566	N	0.412	0.45237	-1.0284	0.20973	T	0.073	0.29643	T	10	0.28027266	0.45602	T	0.028222	0.50927	D	0.039	0.10176	0.548	0.66296	0.352262096564	0.34836	0.43977306932644467	0.43894	0.319636368641	0.34164	0.383739769459	0.22785	T	0.297936	0.67052	T	-0.331209	0.06020	T	-0.508985	0.21419	T	0.0539687900392593	0.06184	T	0.963204	0.86318	D	0.085471906	0.19827	0.117803656	0.28437	0.085471906	0.19827	0.117803656	0.28436	-6.147	0.47493	T	.	.	0.097	0.15609	B	.	.	1.758155	0.22363	15.59	0.99066053396432485	0.51598	0.92342	0.55490	D	AEFBI	0.290377	0.40178	N	-0.697439238002267	0.16093	0.8169769	-0.619285458480832	0.18998	1.017379	0.999631952173446	0.41205	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.564101	0.26826	0	.	.	5.72	-0.019	0.13286	2.453000	0.44627	0.955000	0.22950	-0.222000	0.07959	1.000000	0.71638	0.998000	0.33993	0.068000	0.16518	0.1083:0.3121:0.5158:0.0637	8.663	0.33263	576	0.70006	Glucose-methanol-choline oxidoreductase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	908.63	34	chr3	53823399	.	C	T	908.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.243;DP=269;ExcessHet=0;FS=2.696;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=0.77;SOR=0.886	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,926	6	0	1	0
chr3	53855341	53855341	G	A	exonic	IL17RB	.	nonsynonymous SNV	IL17RB:NM_018725:exon6:c.G529A:p.G177R	.	423	1082	16	1	0	18	0.00824931	1.0000	0.934	.	3409327	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.197	.	0.0051	0.00379393	0.0045	0.0013	0.0013	0.0001	0.0020	0.0055	0.0037	0.0079	0.0042561	658	154602	rs2232337	0.0061	0.0062	0.0059	0.0062	0.0077	0.0060	0.0059	0.0072	0.0070	0.0009	0.0026	0.0013	0.0001	0.0022	0.0070	0.0068	0.0059	0.0077	0.0047	0.0047	0.0049	0.0045	0.0083	0.0044	0.0043	0.0067	0.0065	0.0012	0.0241	0.0048	0.0009	0.0004	0.0022	0.0068	0.0073	0.0033	0.0083	0.003	0.68238	D	0.042	0.50226	D	1.0	0.90584	D	0.976	0.73562	D	0.030850	0.25250	N	0.370902	0.998	0.43943	D	2.79	0.81396	M	1.97	0.22067	T	-6.02	0.89684	D	0.547	0.57348	-1.0299	0.20487	T	0.105	0.38390	T	10	0.009253383	0.00209	T	0.008529	0.22557	T	0.197	0.47942	0.249	0.18602	0.32580497728	0.32196	0.6666667538832183	0.66604	0.438844640856	0.43915	0.470101684332	0.34693	T	0.29966	0.67218	T	-0.375446	0.03327	T	-0.307513	0.43926	T	0.0302302730637096	0.02025	T	0.839916	0.51465	T	0.87959445	0.89633	0.7995634	0.88242	0.87959445	0.89634	0.7995634	0.88243	-9.562	0.71244	D	.	.	0.927	0.84729	P	.	.	6.482312	0.95283	34	0.99931107679262343	0.99387	0.97669	0.76290	D	AEFDBI	0.708104	0.66262	D	0.706036327656051	0.80028	7.204421	0.679326305298717	0.80814	7.382819	0.999999999768077	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	6.04	6.04	0.98025	4.954000	0.63335	11.419000	0.92710	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.671000	0.33280	0.0:0.0:1.0:0.0	16.095	0.80923	587	0.69154	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006579	0.010101	0.009537	0.008772	0.000000	0.008621	0.003106	0.003817	0.08333	371.27	22	chr3	53855341	.	G	A	371.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.52;DP=183;ExcessHet=0;FS=1.249;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.84;ReadPosRankSum=-1.4;SOR=1.049	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1087	5	0	1	1
chr3	53876082	53876082	-	GG	splicing	ACTR8	NM_022899:exon7:c.779-2->CC	.	.	.	440	839	208	22	13	265	0.13057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0086	0.00119808	0.0059	0.0165	0.0021	0.0132	0.0013	0.0045	0.0023	0.0062	0.0003842	10	26028	rs370490982	0.0026	0.0080	0.0026	0.0026	0.0129	0.0025	0.0025	0.0118	0.0114	0.0129	0.0022	0.0001	0.0035	0.0017	0.0011	0.0024	0.0025	0.0029	0.0053	0.0053	0.0053	0.0052	0.0128	0.0050	0.0048	0.0119	0.0115	0.0128	0	0.0067	0.0003	0.0048	0.0004	0	0.0019	0.0044	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2538.24	61	chr3	53876082	.	T	TGG	2538.24	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.844;DP=347;ExcessHet=0.3476;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=2.56;SOR=0.637	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1118	6	0	1	0
chr3	53886895	53886895	T	G	exonic	SELENOK	.	unknown	UNKNOWN	.	439	1070	9	4	0	17	0.00788132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	.	0.0036	0.00978435	0.0070	0.0207	0.0856	0.0013	0.0046	0.0022	0	0.0018	0.0032794	507	154602	rs11562	0.0017	0.0018	0.0019	0.0016	0.0199	0.0017	0.0017	0.0187	0.0182	0.0130	0.0199	0	0.0008	0.0026	0.0019	0.0007	0.0021	0.0018	0.0066	0.0067	0.0057	0.0076	0.0249	0.0063	0.0062	0.0228	0.0220	0.0127	0	0.0249	0	0.0012	0.0024	0	0.0008	0.0061	0.0014	0.379	0.12109	T	0.491	0.11515	T	0.0	0.02946	B	0.002	0.06944	B	0.000003	0.62929	D	0.106439	0.990094	0.41086	D	.	.	.	0.94	0.43672	T	-0.11	0.08653	N	0.188	0.37301	-1.0989	0.04227	T	0.032	0.13592	T	9	0.0026183426	0.00040	T	.	.	.	0.250	0.55888	0.207	0.12356	0.144782658237	0.14088	.	.	0.366090419773	0.38189	0.495579183102	0.38213	T	0.005959	0.05402	T	-0.433535	0.01412	T	-0.379924	0.35731	T	0.018607332201682	0.00574	T	0.563744	0.19863	T	0.13985957	0.32291	0.108434	0.26120	0.13985957	0.32291	0.108434	0.26120	.	.	.	.	.	0.128	0.27222	B	.;.	.;.	2.653826	0.34557	19.66	0.97953524397406766	0.37122	0.88904	0.49062	D	AEFGBI	0.228308	0.35199	N	-0.3540956097411	0.27123	1.485536	-0.188308152228182	0.31964	1.813994	0.999998399160924	0.74766	0.732398	0.92422	0	0.658105	0.61773	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.33	4.15	0.47978	1.578000	0.36135	2.770000	0.34664	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.1498:0.8502	11.530	0.49859	649	0.63102	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002528	0.000000	0.005450	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	397.46	47	chr3	53886895	.	T	G	397.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.807;DP=229;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.46;ReadPosRankSum=-1.09;SOR=0.715	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	6	0	1	0
chr3	56633868	56633868	G	T	exonic	TASOR	.	nonsynonymous SNV	TASOR:NM_001112736:exon18:c.C2923A:p.Q975K,TASOR:NM_001365635:exon18:c.C2923A:p.Q975K	.	431	1038	48	5	0	58	0.027179	.	.	.	708997	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.087	.	0.0012	0.00539137	0.0080	0.0008	0.0030	0	0.0007	0.0026	0.0076	0.0397	0.0051616	798	154602	rs200904014	0.0041	0.0041	0.0031	0.0050	0.0341	0.0040	0.0040	0.0330	0.0326	0.0005	0.0014	0.0007	0.0001	0.0004	0.0182	0.0023	0.0044	0.0341	0.0023	0.0023	0.0021	0.0026	0.0282	0.0021	0.0020	0.0244	0.0229	0.0003	0	0.0022	0.0006	0.0002	9.434e-05	0.0068	0.0023	0.0033	0.0282	0.109	0.29288	T	0.448	0.13030	T	0.2	0.29645	B	0.051	0.25434	B	.	.	.	.	1	0.81001	D	.	.	.	2.76	0.11515	T	-0.74	0.20791	N	0.238	0.26837	-1.0940	0.04899	T	0.021	0.08824	T	9	0.00344491	0.00061	T	.	.	.	0.087	0.25287	.	.	0.082315109003	0.07666	.	.	0.361154789686	0.37775	0.47948050499	0.35985	T	.	.	.	-0.519304	0.00444	T	-0.493653	0.23008	T	0.00853554385659028	0.00104	T	0.873313	0.58144	D	.	.	.	.	.	.	.	.	-3.72	0.19614	T	.	.	0.097	0.15966	B	.	.	3.751016	0.53764	23.4	0.98952803109616327	0.49170	0.88481	0.48429	D	AEFBCI	0.550794	0.56313	D	-0.10567149547457	0.37144	2.156905	0.102129240639342	0.44657	2.743241	0.850442536593728	0.25034	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	4.69	0.58546	5.023000	0.63858	9.865000	0.82085	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8623:0.1377	15.662	0.76948	283	0.88803	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.018630	0.010101	0.017663	0.026316	0.000000	0.008621	0.021341	0.026515	0.07143	645.63	51	chr3	56633868	.	G	T	645.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.531;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-1.222;SOR=0.565	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1302	6	0	1	0
chr3	56669732	56669732	T	C	exonic	TASOR	.	nonsynonymous SNV	TASOR:NM_001112736:exon5:c.A703G:p.M235V,TASOR:NM_001363940:exon5:c.A703G:p.M235V,TASOR:NM_001365635:exon5:c.A703G:p.M235V,TASOR:NM_001365636:exon5:c.A703G:p.M235V,TASOR:NM_001365637:exon5:c.A703G:p.M235V,TASOR:NM_001365638:exon5:c.A703G:p.M235V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00441227951324	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1331223491	2.505e-05	2.599e-05	2.542e-05	2.467e-05	2.817e-05	1.819e-05	1.61e-05	1.974e-05	1.714e-05	0	2.817e-05	0	0	0	0	2.784e-05	6.906e-05	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.706	0.04094	T	1.0	0.02325	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999935	0.19363	N	.	.	.	1.08	0.39401	T	0.49	0.04533	N	0.136	0.13341	-0.9970	0.30755	T	0.031	0.13242	T	9	0.0308581	0.01215	T	0.004412	0.10781	T	0.037	0.09474	0.288	0.24761	0.043077524339	0.03247	0.17376557066767456	0.17296	0.264892400789	0.29045	0.223408922553	0.01516	T	.	.	.	-0.43647	0.01356	T	-0.742191	0.03799	T	0.016320198488769	0.00402	T	0.534247	0.17838	T	.	.	.	.	.	.	.	.	-3.454	0.16125	T	.	.	0.055	0.00390	B	.;.	.;.	0.385168	0.07567	4.224	0.30795351770771778	0.01703	0.68410	0.33792	D	AEFGBI	0.070176	0.13920	N	-0.787351807842733	0.13639	0.6733461	-0.571883973617169	0.20227	1.088822	0.00201957983988832	0.09087	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.51	2.98	0.33575	0.465000	0.21715	1.014000	0.23354	-0.109000	0.15193	1.000000	0.71638	0.999000	0.35428	0.137000	0.19835	0.0:0.2031:0.0:0.7969	6.871	0.23303	241	0.90582	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001484	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	983.27	34	chr3	56669732	.	T	C	983.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.012;DP=266;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=0.213;SOR=0.625	GT:AD:DP:GQ:PL	0/1:39,42:81:99:993,0,900	5	0	1	1
chr3	56682964	56682964	C	T	exonic	TASOR	.	nonsynonymous SNV	TASOR:NM_001112736:exon1:c.G43A:p.A15T,TASOR:NM_001363940:exon1:c.G43A:p.A15T,TASOR:NM_001365635:exon1:c.G43A:p.A15T,TASOR:NM_001365636:exon1:c.G43A:p.A15T,TASOR:NM_001365637:exon1:c.G43A:p.A15T,TASOR:NM_001365638:exon1:c.G43A:p.A15T	.	405	1107	10	0	0	10	0.0044964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.0893796143119	.	0.000998403	0.0010	0	0.0037	0	0	0.0012	0	0.0010	0.0003169	49	154602	rs200185070	0.0005	0.0005	0.0005	0.0005	0.0105	0.0005	0.0005	0.0084	0.0076	6.339e-05	0.0013	7.953e-05	0	2.086e-05	0.0105	0.0005	0.0007	0.0005	0.0006	0.0006	0.0006	0.0006	0.0025	0.0005	0.0005	0.0019	0.0016	0	0.0066	0.0025	0	0	0	0.0136	0.0005	0.0019	0.0008	0.176	0.22312	T	0.25	0.26467	T	0.004	0.12183	B	0.003	0.08700	B	.	.	.	.	0.991033	0.24091	N	.	.	.	2.85	0.10578	T	-0.84	0.23372	N	0.048	0.06587	-0.9625	0.38704	T	0.015	0.05801	T	9	0.0048616827	0.00104	T	0.08938	0.75316	D	0.049	0.13647	.	.	0.0675242888579	0.06100	0.3510005469028627	0.35014	0.254588077278	0.28029	0.786063790321	0.79844	T	.	.	.	-0.611536	0.00124	T	-0.696758	0.06004	T	0.0173214675942375	0.00472	T	0.716728	0.32905	T	.	.	.	.	.	.	.	.	-4.252	0.28260	T	.	.	0.079	0.07365	B	.;.	.;.	1.856436	0.23586	16.07	0.94939479387539727	0.25832	0.32408	0.24578	N	ALL	0.049264	0.08492	N	-1.04937161234138	0.07600	0.3535921	-1.03691033460803	0.08981	0.4443921	0.999999774128846	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	4.5	-2.33	0.06340	-0.203000	0.09440	0.378000	0.17749	-0.225000	0.07834	0.790000	0.29595	0.974000	0.29927	0.701000	0.34172	0.2498:0.3963:0.1221:0.2318	1.162	0.01696	239	0.90673	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007859	0.000000	0.004098	0.020661	0.000000	0.000000	0.010101	0.000000	0.07143	425.83	24	chr3	56682964	.	C	T	425.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.136;DP=190;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=0.325;SOR=0.525	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr3	57415539	57415539	C	T	exonic	DNAH12	.	nonsynonymous SNV	DNAH12:NM_001366028:exon38:c.G5740A:p.G1914S	.	435	1077	10	0	0	10	0.00462107	.	.	.	3416383	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.894	0.48862716622	0.0059	0.00219649	0.0050	0.0028	0.0024	0	0	0.0088	0.0053	0.0020	0.0017529	271	154602	rs189965161	0.0081	0.0078	0.0083	0.0080	0.0093	0.0080	0.0079	0.0092	0.0091	0.0014	0.0018	0.0025	2.804e-05	0.0119	0.0051	0.0093	0.0055	0.0017	0.0064	0.0064	0.0065	0.0063	0.0096	0.0061	0.0059	0.0090	0.0088	0.0016	0.1064	0.0020	0.0026	0	0.0092	0.0102	0.0096	0.0038	0.0015	0.0	0.91255	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1.000	0.50806	D	4.095	0.97289	H	-2.68	0.90391	D	-5.6	0.86608	D	0.898	0.89800	0.885	0.95468	D	0.874	0.95800	D	9	0.012067914	0.00261	T	0.488627	0.94961	D	0.894	0.96985	.	.	0.902215811188	0.90123	.	.	.	.	0.823674917221	0.85592	D	0.315905	0.68748	T	0.138099	0.68144	D	0.436625	0.93231	D	0.112297389813193	0.13661	T	0.998031	0.99924	D	0.8050511	0.84231	0.81149155	0.88995	0.8050511	0.84232	0.81149155	0.88996	-7.098	0.54746	T	.	.	0.937	0.85593	P	.;.	.;.	4.905209	0.80657	27.4	0.99378342684848686	0.61759	0.97974	0.78556	D	AEFI	0.929378	0.91505	D	1.0085143022351	0.96000	14.19206	0.926805815273706	0.96639	14.94817	0.999999919520788	0.74766	0.500041	0.20204	0	0.573888	0.26702	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	5.44	5.44	0.79348	7.684000	0.83402	7.657000	0.64017	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.638	0.95739	303	0.87825	AAA+ ATPase domain;AAA+ ATPase domain	.	.	.	.	rs189965161	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	435.27	30	chr3	57415539	.	C	T	435.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.557;DP=214;ExcessHet=0;FS=1.076;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.37;ReadPosRankSum=-1.027;SOR=0.915	GT:AD:DP:GQ:PL	0/0:36,0:36:93:0,93,1395	5	0	1	1
chr3	58653691	58653691	C	T	exonic	FAM3D	.	nonsynonymous SNV	FAM3D:NM_138805:exon3:c.G104A:p.R35H	.	415	1089	18	0	0	18	0.00819672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	0.0068	0.00259585	0.0071	0.0018	0.0030	0.0001	0.0057	0.0107	0.0033	0.0032	0.0067981	1051	154602	rs13097314	0.0071	0.0071	0.0071	0.0071	0.0081	0.0070	0.0069	0.0080	0.0079	0.0010	0.0047	0.0005	0.0004	0.0069	0.0042	0.0081	0.0065	0.0030	0.0054	0.0054	0.0056	0.0051	0.0085	0.0051	0.0049	0.0079	0.0077	0.0015	0	0.0062	0.0006	0.0002	0.0057	0	0.0085	0.0052	0.0027	0.105	0.47320	T	0.292	0.20877	T	0.992	0.64738	D	0.599	0.50715	P	0.008602	0.30756	N	0.262588	0.619856	0.32695	D	2.005	0.54552	M	0.6	0.53731	T	-1.2	0.40082	N	0.289	0.32701	-0.8114	0.54466	T	0.115	0.40763	T	10	0.0070091486	0.00159	T	.	.	.	0.063	0.18251	.	.	0.607205898885	0.60405	0.42217253051544185	0.42134	0.130150782498	0.14680	0.343895494938	0.17019	T	0.02659	0.20767	T	-0.42537	0.01582	T	-0.375829	0.36210	T	0.0180318163346801	0.00527	T	0.755524	0.37862	T	0.0651721	0.13902	0.05647457	0.10099	0.0651721	0.13901	0.05647457	0.10098	-3.607	0.17958	T	.	.	0.118	0.28807	B	.;.;.	.;.;.	3.421100	0.47502	22.5	0.99870505638251272	0.94815	0.76413	0.37474	D	AEFBI	0.170758	0.29769	N	0.0978670330124511	0.46363	2.877822	0.0763986621505273	0.43364	2.639726	0.00330133000668038	0.10046	0.516011	0.20929	0	0.563428	0.19063	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.26	3.38	0.37806	1.425000	0.34467	0.981000	0.23125	0.589000	0.31548	0.968000	0.34134	0.448000	0.24938	0.640000	0.32422	0.2049:0.795:0.0:0.0	9.779	0.39804	872	0.31118	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.030303	0.002717	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	974.46	37	chr3	58653691	.	C	T	974.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.383;DP=267;ExcessHet=0;FS=0.799;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-0.453;SOR=0.563	GT:AD:DP:GQ:PL	0/1:48,42:90:99:985,0,1151	6	0	1	0
chr3	58831882	58831882	T	C	exonic	CFAP20DC	.	nonsynonymous SNV	CFAP20DC:NM_001351530:exon13:c.A1814G:p.D605G,CFAP20DC:NM_001351531:exon13:c.A1364G:p.D455G,CFAP20DC:NM_198463:exon13:c.A1226G:p.D409G,CFAP20DC:NM_001351532:exon14:c.A1049G:p.D350G	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0181610996355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.045	0.49390	D	0.775	0.44108	P	0.273	0.40007	B	0.001997	0.37503	N	0.265449	0.673373	0.33164	D	.	.	.	1.94	0.22678	T	-3.01	0.62518	D	0.447	0.48504	-0.5557	0.66569	T	0.313	0.68326	T	9	0.31014958	0.48495	T	0.018161	0.40130	T	0.115	0.32236	.	.	0.354610295913	0.35065	0.26740883912575636	0.26653	0.342841823336	0.36211	.	.	.	.	.	.	-0.0888978	0.38259	T	-0.365472	0.37417	T	0.935152649879456	0.60316	D	0.79692	0.52334	T	.	.	.	.	.	.	.	.	-6.627	0.51259	T	.	.	0.206	0.59296	B	.;.	.;.	4.330616	0.66357	25.0	0.99802784178528658	0.88728	0.98666	0.85331	D	AEFBI	0.778108	0.71071	D	0.288535272949903	0.55566	3.720732	0.349767466909849	0.58493	4.020149	0.611020928911014	0.21804	0.581397	0.33459	0	0.573888	0.26702	0	0.565031	0.19037	0	0.567892	0.33627	0	.	.	6.04	4.87	0.62877	5.831000	0.69032	5.027000	0.46794	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:0.1307:0.8693	13.469	0.60726	403	0.82567	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	830.53	35	chr3	58831882	.	T	C	830.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.91;DP=261;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=1.1;SOR=0.749	GT:AD:DP:GQ:PL	0/1:53,31:84:99:841,0,1444	6	0	1	0
chr3	58866572	58866572	G	C	exonic	CFAP20DC	.	nonsynonymous SNV	CFAP20DC:NM_001351530:exon10:c.C1087G:p.Q363E,CFAP20DC:NM_001351531:exon10:c.C637G:p.Q213E,CFAP20DC:NM_001351532:exon11:c.C322G:p.Q108E,CFAP20DC:NM_198463:exon11:c.C877G:p.Q293E	.	430	1065	27	0	0	27	0.0125174	.	.	.	706502	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.057	0.0024064041743	0.0026	0.00259585	0.0032	9.617e-05	0.0019	0	0	0.0033	0.0022	0.0086	0.0028331	438	154602	rs139315615	0.0022	0.0023	0.0019	0.0025	0.0105	0.0022	0.0021	0.0084	0.0076	0.0003	0.0024	0.0260	0	9.368e-05	0.0105	0.0013	0.0041	0.0079	0.0024	0.0024	0.0022	0.0026	0.0112	0.0022	0.0021	0.0088	0.0080	0.0002	0	0.0044	0.0303	0	0	0.0034	0.0018	0.0047	0.0112	0.116	0.28395	T	0.87	0.49663	T	0.341	0.47975	B	0.109	0.46460	B	0.513447	0.11819	N	0.781238	0.995676	0.23230	N	2.295	0.65404	M	2.25	0.19450	T	-0.55	0.32791	N	0.18	0.29774	-1.1196	0.02357	T	0.064	0.26420	T	10	0.0064465106	0.00146	T	0.002406	0.04701	T	0.057	0.16321	.	.	0.204665344411	0.20097	0.2862177999819489	0.28534	0.136170689672	0.15352	.	.	.	.	.	.	-0.538743	0.00341	T	-0.542358	0.18065	T	0.0339354908593299	0.02626	T	0.770023	0.45571	T	.	.	.	.	.	.	.	.	-2.644	0.06845	T	.	.	0.064	0.02578	B	.;.;.	.;.;.	1.931132	0.24526	16.43	0.98033529964056532	0.37728	0.82113	0.41391	D	AEFBI	0.180221	0.30752	N	0.143212010593158	0.48491	3.060739	0.185055916950351	0.49027	3.11102	0.825617431940533	0.24601	0.608746	0.35421	0	0.588015	0.36545	0	0.731467	0.93227	0	0.567892	0.33627	0	.	.	5.88	5.0	0.66209	2.234000	0.42681	4.114000	0.41935	0.676000	0.76740	0.998000	0.41325	0.976000	0.30059	0.991000	0.66497	0.0:0.1616:0.8384:0.0	13.029	0.58239	460	0.78750	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008595	0.000000	0.005435	0.026471	0.000000	0.008621	0.006211	0.003788	0.07143	154.94	20	chr3	58866572	.	G	C	154.94	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.307;DP=112;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.04;ReadPosRankSum=-0.376;SOR=0.859	GT:AD:DP:GQ:PL	0/0:27,0:27:80:0,80,730	6	0	1	0
chr3	63278716	63278716	C	T	exonic	SYNPR	.	nonsynonymous SNV	SYNPR:NM_001130003:exon2:c.C58T:p.L20F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.466	0.323057979674	.	0.00119808	0.0017	0	0	0	0	0.0028	0	0.0013	0.0007891	122	154602	rs201880233	0.0034	0.0032	0.0035	0.0033	0.0039	0.0033	0.0033	0.0038	0.0038	0.0005	0.0011	0.0019	2.798e-05	0.0033	0.0007	0.0039	0.0023	0.0014	0.0021	0.0021	0.0019	0.0025	0.0032	0.0020	0.0019	0.0029	0.0027	0.0005	0	0.0017	0.0009	0	0.0044	0	0.0032	0.0019	0.0014	0.002	0.72154	D	0.012	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999469	0.47157	D	.	.	.	-0.28	0.67543	T	-2.79	0.74051	D	0.606	0.71587	-0.1649	0.78551	T	0.421	0.76596	T	9	0.02597788	0.00776	T	0.323058	0.91531	D	0.466	0.76156	.	.	0.760164211979	0.75798	0.7131394782975795	0.71255	0.394572771458	0.40613	0.59412997961	0.52076	T	.	.	.	-0.278435	0.10833	T	-0.169003	0.57534	T	0.0367988349799495	0.03121	T	0.913209	0.69058	D	.	.	.	.	.	.	.	.	-10.082	0.74401	D	.	.	0.811	0.77793	P	.;.	.;.	4.607178	0.73027	25.9	0.99900456168318552	0.97275	0.45189	0.27483	N	AEFDBCI	0.093457	0.18910	N	0.602520443262177	0.73333	5.949148	0.551686303537286	0.71512	5.666524	0.999984504260951	0.51787	0.446893	0.09132	0	0.563428	0.19063	0	0.503968	0.08637	0	0.530356	0.10902	0	.	.	5.19	4.3	0.50540	2.149000	0.41869	5.780000	0.49798	0.549000	0.26987	0.992000	0.37556	1.000000	0.68203	0.979000	0.57723	0.0:0.8983:0.0:0.1017	8.727	0.33639	926	0.17793	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001062	0.000000	0.000000	0.004132	0.000000	0.000000	0.000000	0.000000	0.07143	929.44	34	chr3	63278716	.	C	T	929.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.601;DP=306;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=0.082;SOR=0.738	GT:AD:DP:GQ:PL	0/1:57,44:101:99:940,0,1346	6	0	1	0
chr3	63912714	63912714	-	GCC	exonic	ATXN7	.	nonframeshift insertion	ATXN7:NM_001177387:exon2:c.116_117insGCC:p.P43_Q44insP,ATXN7:NM_001377406:exon2:c.116_117insGCC:p.P43_Q44insP,ATXN7:NM_000333:exon3:c.116_117insGCC:p.P43_Q44insP,ATXN7:NM_001377405:exon3:c.116_117insGCC:p.P43_Q44insP	Spinocerebellar ataxia 7, Autosomal dominant	30	1415	44	2	31	79	0.0166782	.	.	.	2827531	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0151	0	0	0	0.0049	0.0169	0.125	0.0165	0.0008085	125	154602	rs770364745	0.0074	0.0063	0.0073	0.0075	0.0273	0.0072	0.0072	0.0223	0.0205	0.0021	0.0049	0.0091	0.0008	0.0031	0.0273	0.0077	0.0079	0.0069	0.0079	0.0079	0.0079	0.0079	0.0167	0.0075	0.0074	0.0150	0.0143	0.0022	0.0176	0.0167	0.0091	0.0006	0.0026	0.0350	0.0104	0.0132	0.0063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059524	0.064103	0.051282	0.044776	0.000000	0.214286	0.049296	0.042857	0.08333	519.62	13	chr3	63912714	.	A	AGCC	519.62	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.333;DP=91;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=27.35;ReadPosRankSum=-0.881;SOR=0.42	GT:AD:DP:GQ:PL	0/1:5,14:19:99:529,0,168	5	0	1	1
chr3	63995985	63995985	-	TCCTCCTCCTCC	exonic	ATXN7	.	nonframeshift insertion	ATXN7:NM_001128149:exon8:c.1728_1729insTCCTCCTCCTCC:p.S583_H584insSSSS,ATXN7:NM_001177387:exon11:c.2163_2164insTCCTCCTCCTCC:p.S728_H729insSSSS,ATXN7:NM_001377406:exon11:c.2163_2164insTCCTCCTCCTCC:p.S728_H729insSSSS,ATXN7:NM_000333:exon12:c.2163_2164insTCCTCCTCCTCC:p.S728_H729insSSSS,ATXN7:NM_001377405:exon12:c.2163_2164insTCCTCCTCCTCC:p.S728_H729insSSSS	Spinocerebellar ataxia 7, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.287e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs750825743	8.21e-06	8.209e-06	4.084e-06	1.238e-05	0.0002	4.38e-06	3.46e-06	2.996e-05	2.038e-05	0	0	0	0	0	0.0002	3.598e-06	1.656e-05	6.958e-05	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2021.41	34	chr3	63995985	.	T	TTCCTCCTCCTCC	2021.41	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.274;DP=336;ExcessHet=0;FS=5.195;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=-1.483;SOR=0.572	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,106,1523	6	0	1	0
chr3	64147033	64147033	A	G	exonic	PRICKLE2	.	nonsynonymous SNV	PRICKLE2:NM_001370528:exon7:c.T1457C:p.M486T,PRICKLE2:NM_198859:exon7:c.T1457C:p.M486T	.	.	.	.	.	.	.	.	.	.	.	828540	Progressive_myoclonic_epilepsy_type_5	MedGen:C5190799,Orphanet:402082	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.178	0.0200174936274	.	.	9.884e-05	0	0	0	0	0.0002	0	0	7.76e-05	12	154602	rs751661338	4.857e-05	4.857e-05	3.403e-05	6.325e-05	0.0002	3.926e-05	3.604e-05	4.699e-05	4.281e-05	2.987e-05	0	0	0	0	0.0002	5.845e-05	6.623e-05	0	6.576e-05	6.568e-05	6.427e-05	6.733e-05	0.0001	3.519e-05	2.618e-05	5.844e-05	4.24e-05	2.415e-05	0	0	0	0	9.427e-05	0	0.0001	0	0	.	.	.	.	.	.	0.167	0.28604	B	0.021	0.19346	B	0.000010	0.62929	D	0.116020	0.991069	0.41300	D	1.245	0.31408	L	.	.	.	.	.	.	.	.	-0.8894	0.48986	T	0.140	0.45847	T	10	0.14978996	0.28343	T	0.020017	0.42524	T	0.178	0.44724	0.214	0.13354	0.19168177325	0.18762	0.33151066347659736	0.33064	0.613628842955	0.55921	0.749597966671	0.74387	T	0.108831	0.42220	T	-0.189975	0.22262	T	-0.255617	0.49260	T	0.118764436352861	0.14309	T	0.727127	0.34152	T	0.21568662	0.44007	0.19201489	0.42692	0.21568662	0.44007	0.19201489	0.42691	-2.167	0.03883	T	0.08851255516455181	0.05313	0.153	0.45605	B	.;.;.	.;.;.	2.685914	0.35051	19.79	0.98213149675881917	0.39228	0.94582	0.61636	D	AEFBCI	0.699339	0.65672	D	0.086192425235938	0.45820	2.832143	0.257799063640607	0.53093	3.480179	0.999999524238184	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.53	5.53	0.82530	6.030000	0.70548	9.422000	0.80760	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.9223:0.0:0.0777:0.0	9.808	0.39971	787	0.46738	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	611.44	33	chr3	64147033	.	A	G	611.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.298;DP=258;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=-0.108;SOR=0.651	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1050	6	0	1	0
chr3	65439929	65439931	TGC	-	exonic	MAGI1	.	nonframeshift deletion	MAGI1:NM_001033057:exon9:c.1218_1220del:p.Q421del,MAGI1:NM_001365903:exon9:c.1221_1223del:p.Q422del,MAGI1:NM_001365904:exon9:c.1221_1223del:p.Q422del,MAGI1:NM_001365905:exon9:c.1221_1223del:p.Q422del,MAGI1:NM_004742:exon9:c.1218_1220del:p.Q421del,MAGI1:NM_015520:exon9:c.1218_1220del:p.Q421del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0.0002	0.0002	0.0001	0.0011	0.0007	0.0002652	41	154602	rs752246689	5.029e-05	0.0011	3.564e-05	6.507e-05	0.0007	4.087e-05	3.76e-05	0.0005	0.0005	0	0	0	5.091e-05	0.0001	0	5.428e-06	3.337e-05	0.0007	4.63e-05	9.892e-05	3.882e-05	5.413e-05	0.0010	2.122e-05	1.535e-05	0.0004	0.0003	0	0	0	0	0.0002	0	0	1.474e-05	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	67.4	34	chr3	65439928	.	TTGC	T	67.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.383;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.85;ReadPosRankSum=-1.383;SOR=0.693	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1216	6	0	1	0
chr3	66382387	66382387	C	T	exonic	LRIG1	.	nonsynonymous SNV	LRIG1:NM_001377347:exon9:c.G1501A:p.V501M,LRIG1:NM_001377348:exon9:c.G1474A:p.V492M,LRIG1:NM_001377349:exon9:c.G1219A:p.V407M,LRIG1:NM_001377344:exon15:c.G2428A:p.V810M,LRIG1:NM_001377345:exon16:c.G1723A:p.V575M,LRIG1:NM_001377346:exon16:c.G1723A:p.V575M,LRIG1:NM_015541:exon16:c.G2503A:p.V835M	.	429	1090	2	1	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.0447693986196	0.0002	0.000599042	0.0005	0	0	0	0	7.492e-05	0.0011	0.0030	0.0003946	61	154602	rs143299609	0.0002	0.0002	0.0001	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	0	2.236e-05	0	7.557e-05	0	0.0005	2.788e-05	0.0004	0.0028	0.0001	0.0001	7.711e-05	0.0001	0.0029	6.507e-05	5.32e-05	0.0018	0.0014	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0029	0.015	0.59928	D	0.013	0.63109	D	0.999	0.77913	D	0.893	0.68939	P	0.000007	0.62929	D	0.062472	0.999311	0.81001	D	2.565	0.75005	M	-0.26	0.67874	T	-1.09	0.28290	N	0.662	0.67132	-0.1218	0.79592	T	0.462	0.79134	T	10	0.025908291	0.00771	T	0.044769	0.61651	D	0.235	0.53788	.	.	0.499901089381	0.49625	0.341288359595201	0.34041	0.435177631789	0.43630	0.76679033041	0.76943	T	0.205983	0.56519	T	-0.264599	0.12366	T	-0.155906	0.58717	T	0.118271664360751	0.14260	T	.	.	.	0.07772254	0.17659	0.12636796	0.30434	0.07772254	0.17658	0.12636796	0.30434	-4.725	0.33705	T	.	.	0.193	0.56185	B	.;.	.;.	4.847275	0.79201	27.1	0.99894556607320817	0.96819	0.91200	0.53056	D	AEFDBCI	0.543337	0.55870	D	0.640194694128934	0.75735	6.358895	0.628220792001493	0.76996	6.595434	0.999999942806921	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	4.148000	0.57856	3.315000	0.37496	0.599000	0.40250	0.999000	0.42656	0.998000	0.33993	0.946000	0.48989	0.0:1.0:0.0:0.0	19.717	0.96119	800	0.44535	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	656.53	60	chr3	66382387	.	C	T	656.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.77;DP=323;ExcessHet=0;FS=1.969;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.11;ReadPosRankSum=1.12;SOR=1.025	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	6	0	1	0
chr3	66405253	66405253	C	A	exonic	LRIG1	.	nonsynonymous SNV	LRIG1:NM_001377347:exon2:c.G103T:p.G35C,LRIG1:NM_001377348:exon2:c.G76T:p.G26C,LRIG1:NM_001377344:exon8:c.G1030T:p.G344C,LRIG1:NM_001377345:exon9:c.G325T:p.G109C,LRIG1:NM_001377346:exon9:c.G325T:p.G109C,LRIG1:NM_015541:exon9:c.G1105T:p.G369C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.0226014305118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.43708	D	0.096	0.41573	T	0.997	0.73220	D	0.912	0.70309	D	0.000008	0.62929	D	0.109014	0.999977	0.53665	D	1.935	0.51832	L	1.68	0.27184	T	-3.51	0.68880	D	0.749	0.74826	-1.0251	0.22050	T	0.118	0.41582	T	10	0.6037334	0.67057	D	0.022601	0.45504	T	0.183	0.45592	0.386	0.40624	0.174091166621	0.17034	0.7072450073321119	0.70666	0.45743375715	0.45377	0.801231324673	0.82151	T	0.419884	0.77177	T	0.00385989	0.52187	T	-0.232232	0.51556	T	0.972034454345703	0.69544	D	.	.	.	0.45716926	0.64494	0.18768762	0.42015	0.45716926	0.64495	0.18768762	0.42014	-3.37	0.44653	T	.	.	0.533	0.73763	A	.;.	.;.	4.757788	0.76885	26.6	0.99762693545774372	0.85172	0.86931	0.46325	D	AEFDBI	0.292701	0.40351	N	0.46231185679041	0.64904	4.755893	0.460546003174755	0.65396	4.818599	0.999999901365238	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.46	5.46	0.80021	3.147000	0.50335	5.958000	0.51771	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	0.639000	0.32395	0.0:1.0:0.0:0.0	19.322	0.94230	777	0.48198	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr3	66405253	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1480	6	1	0	0
chr3	67520561	67520561	C	-	exonic	SUCLG2	.	frameshift deletion	SUCLG2:NM_001177599:exon5:c.491delG:p.G164Afs*36,SUCLG2:NM_003848:exon5:c.491delG:p.G164Afs*36	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	49.4	34	chr3	67520560	.	GC	G	49.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=0.524;SOR=0.368	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1219	6	0	1	0
chr3	73624312	73624312	C	T	exonic	PDZRN3	.	nonsynonymous SNV	PDZRN3:NM_015009:exon1:c.G514A:p.A172T	.	438	1078	5	1	0	7	0.00323625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0883595003561	.	0.00139776	0	0	0	0	0	0	0	0	0.0004226	11	26028	rs540479588	0.0006	0.0007	0.0004	0.0008	0.0155	0.0005	0.0005	0.0145	0.0141	4.306e-05	0	0	0	0	0.0006	1.234e-05	0.0008	0.0155	0.0004	0.0004	0.0002	0.0007	0.0130	0.0004	0.0003	0.0105	0.0095	2.412e-05	0	0	0	0	0	0	2.948e-05	0	0.0130	0.02	0.49613	D	0.244	0.40586	T	0.977	0.58535	D	0.37	0.43538	B	0.000175	0.48594	D	0.135938	0.999994	0.58761	D	1.59	0.40313	L	1.75	0.26152	T	-0.86	0.31778	N	0.117	0.20129	-1.0973	0.04433	T	0.062	0.25923	T	10	0.008140951	0.00185	T	0.08836	0.75118	D	0.074	0.21613	0.286	0.24440	0.225033846419	0.22103	0.28084007331368244	0.27997	1.45948047414	0.86318	0.92082875967	0.98386	D	0.019351	0.15433	T	-0.0789976	0.39878	T	-0.351251	0.39062	T	0.909826755523682	0.56485	D	0.791621	0.43272	T	0.1990136	0.41826	0.162072	0.37666	0.1990136	0.41825	0.162072	0.37665	-7.542	0.57905	D	.	.	0.101	0.17700	B	.;.	.;.	3.945361	0.57762	23.9	0.99782433992192687	0.86867	0.87012	0.46427	D	AEFDBHCIJ	0.459616	0.51014	N	0.242531661651486	0.53270	3.496737	0.261700638871821	0.53317	3.501307	1.0	0.98316	0.652421	0.48094	0	0.59043	0.45803	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	4.69	4.69	0.58546	4.955000	0.63343	5.529000	0.48841	0.444000	0.21144	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	16.625	0.84806	962	0.08456	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003367	0.000000	0.001534	0.000000	0.000000	0.000000	0.000000	0.021186	0.07143	708.63	29	chr3	73624312	.	C	T	708.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.684;DP=222;ExcessHet=0;FS=0.968;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-1.397;SOR=0.859	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,955	6	0	1	0
chr3	74285307	74285307	G	A	exonic	CNTN3	.	nonsynonymous SNV	CNTN3:NM_020872:exon19:c.C2702T:p.T901M	.	437	1079	6	0	0	6	0.00277264	0.0161	0.18	.	698288	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.090	.	0.0080	0.00359425	0.0095	0.0013	0.0024	0	0.0125	0.0143	0.0149	0.0031	0.0089197	1379	154602	rs141921900	0.0098	0.0097	0.0100	0.0095	0.0113	0.0096	0.0096	0.0111	0.0110	0.0011	0.0030	0.0017	0.0001	0.0131	0.0034	0.0113	0.0085	0.0030	0.0080	0.0081	0.0082	0.0079	0.0128	0.0077	0.0075	0.0121	0.0118	0.0015	0.0396	0.0053	0.0020	0	0.0138	0.0034	0.0128	0.0057	0.0015	0.034	0.44029	D	0.09	0.40267	T	0.004	0.12183	B	0.015	0.17295	B	0.001587	0.38554	N	0.290390	0.73933	0.33805	D	0.46	0.12951	N	0.56	0.54540	T	-1.36	0.33798	N	0.206	0.22870	-0.9641	0.38389	T	0.066	0.27364	T	10	0.004834354	0.00103	T	.	.	.	0.090	0.26093	.	.	0.494232246516	0.49056	0.38907339473874325	0.38822	0.24617174184	0.27154	0.451213866472	0.32110	T	0.123059	0.44716	T	-0.619003	0.00112	T	-0.650255	0.08936	T	0.018050021024756	0.00529	T	0.541746	0.18406	T	0.029654887	0.02495	0.059998732	0.11353	0.029654887	0.02494	0.059998732	0.11353	-5.225	0.39195	T	.	.	0.123	0.25753	B	.	.	3.708067	0.52926	23.3	0.98739609107162862	0.45482	0.94718	0.62091	D	AEFI	0.512489	0.54068	D	-0.535684375750678	0.20935	1.107315	-0.410120203248802	0.24700	1.354076	0.00135713156360695	0.08470	0.487112	0.14033	0	0.573888	0.26702	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	5.4	2.15	0.26590	3.830000	0.55469	4.270000	0.42842	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.787000	0.37188	0.2572:0.0:0.7428:0.0	10.829	0.45853	933	0.16026	Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.050000	0.000000	0.003049	0.000000	0.07143	459.53	33	chr3	74285307	.	G	A	459.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.644;DP=229;ExcessHet=0;FS=9.84;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=1.13;SOR=0.067	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	6	0	1	0
chr3	74369922	74369922	G	A	exonic	CNTN3	.	nonsynonymous SNV	CNTN3:NM_020872:exon6:c.C728T:p.S243L	.	442	1052	26	2	0	30	0.0140581	.	.	.	698291	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.450	.	0.0005	0.00658946	0.0061	0.0004	0.0008	0	0	0.0007	0.0011	0.0407	0.0051487	796	154602	rs139461362	0.0027	0.0027	0.0015	0.0039	0.0380	0.0027	0.0026	0.0369	0.0364	9.067e-05	0.0004	3.844e-05	2.541e-05	7.496e-05	0.0078	0.0004	0.0025	0.0380	0.0015	0.0015	0.0009	0.0022	0.0336	0.0014	0.0013	0.0294	0.0278	0.0001	0	0.0002	0.0003	0.0002	0	0.0136	0.0008	0.0019	0.0336	0.058	0.37750	T	0.038	0.51421	D	0.002	0.09854	B	0.032	0.22131	B	0.000149	0.49130	D	0.144541	0.999882	0.50402	D	2.52	0.73523	M	-4.01	0.96370	D	-3.61	0.69477	D	0.235	0.26475	0.467	0.90073	D	0.822	0.94015	D	10	0.0074414015	0.00169	T	.	.	.	0.450	0.75074	.	.	0.897436257175	0.89642	0.7006975414544631	0.70010	0.375138292621	0.38969	0.569997549057	0.48678	T	0.205802	0.56497	T	-0.229544	0.16710	T	-0.0739319	0.65345	T	0.103036878257621	0.12687	T	0.926707	0.72990	D	0.35272086	0.57278	0.30565733	0.56592	0.35272086	0.57278	0.30565733	0.56591	-8.638	0.65339	D	.	.	0.181	0.39442	B	.	.	5.062275	0.84388	28.3	0.99662083930897594	0.78011	0.95924	0.66744	D	AEFI	0.661484	0.63169	D	0.0830567692715343	0.45672	2.819935	0.262671005703629	0.53374	3.506651	0.973537456114881	0.29464	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.32	5.32	0.75377	5.414000	0.66145	9.707000	0.81321	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	19.358	0.94413	890	0.26919	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.000000	0.004076	0.008772	0.000000	0.034483	0.003049	0.030303	0.07143	653.53	33	chr3	74369922	.	G	A	653.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.842;DP=238;ExcessHet=0;FS=2.095;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=1.12;SOR=0.673	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1113	6	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	10882.8	91	chr3	75730451	.	T	G	10882.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.742;DP=592;ExcessHet=3.6764;FS=3.315;MLEAC=7;MLEAF=0.5;MQ=54.76;MQRankSum=-5.737;QD=20.57;ReadPosRankSum=0.391;SOR=0.483	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:54,0:54:99:.:.:0,120,1800:.	1	1	5	0
chr3	75730611	75730611	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.C2236A:p.L746I	.	434	899	189	0	0	189	0.0951183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0330413	860	26028	rs73841587	5.455e-06	4.771e-06	3.964e-06	6.718e-06	9.364e-05	1.45e-06	4e-07	2.481e-05	1.287e-05	0	0	0	9.364e-05	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	667.31	49	chr3	75730611	.	G	T	667.31	.	AC=5;AF=0.357;AN=14;BaseQRankSum=1.38;DP=365;ExcessHet=4.7409;FS=65.71;MLEAC=5;MLEAF=0.357;MQ=56.75;MQRankSum=-7.384;QD=2.17;ReadPosRankSum=-2.389;SOR=6.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:49,0:49:99:.:.:0,117,1755:.	2	0	5	0
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290208:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290209:exon5:c.2588dupT:p.*865delinsLNTQPTPLWLLLQISPCSV*	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2416.31	91	chr3	75736884	.	G	GA	2416.31	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.592;DP=725;ExcessHet=4.7409;FS=3.225;MLEAC=5;MLEAF=0.357;MQ=56.69;MQRankSum=-6.418;QD=4.13;ReadPosRankSum=1.28;SOR=0.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:110,0:110:99:.:.:0,120,1800:.	2	0	5	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F,ZNF717:NM_001290208:exon5:c.C2732T:p.S911F,ZNF717:NM_001290209:exon5:c.C2582T:p.S861F	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	6117.79	97	chr3	75736891	.	G	A	6117.79	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.958;DP=732;ExcessHet=6.1542;FS=3.524;MLEAC=5;MLEAF=0.417;MQ=56.66;MQRankSum=-6.731;QD=9.98;ReadPosRankSum=1.2;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:112,0:112:99:.:.:0,120,1800:.	1	0	5	1
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D,ZNF717:NM_001290208:exon5:c.G2703T:p.E901D,ZNF717:NM_001290209:exon5:c.G2553T:p.E851D	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	6023.79	105	chr3	75736920	.	C	A	6023.79	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.206;DP=769;ExcessHet=6.1542;FS=1.251;MLEAC=5;MLEAF=0.417;MQ=55.16;MQRankSum=-6.694;QD=9.3;ReadPosRankSum=0.441;SOR=0.559	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:112,0:112:99:.:.:0,120,1800:.	1	0	5	1
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I,ZNF717:NM_001290208:exon5:c.G2695A:p.V899I,ZNF717:NM_001290209:exon5:c.G2545A:p.V849I	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	5966.79	110	chr3	75736928	.	C	T	5966.79	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1.9;DP=764;ExcessHet=6.1542;FS=1.985;MLEAC=5;MLEAF=0.417;MQ=54.58;MQRankSum=-7.092;QD=9.27;ReadPosRankSum=-0.328;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:114,0:114:99:.:.:0,120,1800:.	1	0	5	1
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290208:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290209:exon5:c.A2492G:p.Q831R	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	3640.72	111	chr3	75736981	.	T	C	3640.72	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.791;DP=780;ExcessHet=6.1542;FS=0;MLEAC=5;MLEAF=0.417;MQ=52.71;MQRankSum=-4.821;QD=5.67;ReadPosRankSum=-2.194;SOR=0.674	GT:AD:DP:GQ:PL	0/0:109,0:109:99:0,120,1800	1	0	5	1
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K,ZNF717:NM_001290208:exon5:c.G2611A:p.E871K,ZNF717:NM_001290209:exon5:c.G2461A:p.E821K	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	5397.79	132	chr3	75737012	.	C	T	5397.79	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.22;DP=798;ExcessHet=6.1542;FS=0;MLEAC=5;MLEAF=0.417;MQ=53.23;MQRankSum=-4.663;QD=8.1;ReadPosRankSum=-1.168;SOR=0.684	GT:AD:DP:GQ:PL	0/0:109,0:109:99:0,120,1800	1	0	5	1
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P,ZNF717:NM_001290208:exon5:c.T2563C:p.S855P,ZNF717:NM_001290209:exon5:c.T2413C:p.S805P	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	9255.85	148	chr3	75737060	.	A	G	9255.85	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.535;DP=881;ExcessHet=3.6764;FS=1.107;MLEAC=7;MLEAF=0.5;MQ=53.38;MQRankSum=-5.265;QD=12.32;ReadPosRankSum=1.24;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:114,0:114:99:.:.:0,120,1800:.	1	1	5	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290208:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290209:exon5:c.G2381A:p.C794Y	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	13633.8	135	chr3	75737092	.	C	T	13633.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-2.219;DP=904;ExcessHet=3.6764;FS=1.095;MLEAC=7;MLEAF=0.5;MQ=54.9;MQRankSum=-7.465;QD=17.59;ReadPosRankSum=0.982;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:120,0:120:99:.:.:0,120,1800:.	1	1	5	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S,ZNF717:NM_001290208:exon5:c.A2529T:p.R843S,ZNF717:NM_001290209:exon5:c.A2379T:p.R793S	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	13457.8	134	chr3	75737094	.	T	A	13457.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.999;DP=893;ExcessHet=3.6764;FS=1.104;MLEAC=7;MLEAF=0.5;MQ=55.1;MQRankSum=-7.727;QD=17.48;ReadPosRankSum=0.701;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:120,0:120:99:.:.:0,120,1800:.	1	1	5	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X,ZNF717:NM_001290208:exon5:c.A2518T:p.K840X,ZNF717:NM_001290209:exon5:c.A2368T:p.K790X	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	12688.8	128	chr3	75737105	.	T	A	12688.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-2.611;DP=850;ExcessHet=3.6764;FS=1.769;MLEAC=7;MLEAF=0.5;MQ=55.69;MQRankSum=-8.189;QD=16.96;ReadPosRankSum=0.071;SOR=0.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:95,0:95:99:.:.:0,120,1800:.	1	1	5	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290208:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290209:exon5:c.T2346G:p.H782Q	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	10476.5	115	chr3	75737127	.	A	C	10476.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.467;DP=801;ExcessHet=8.2628;FS=3.274;MLEAC=6;MLEAF=0.429;MQ=56.32;MQRankSum=-7.966;QD=14.92;ReadPosRankSum=0.637;SOR=0.962	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:95,0:95:99:.:.:0,120,1800:.	1	0	6	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290208:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290209:exon5:c.2301_2309del:p.E768_R770del	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	5788.44	92	chr3	75737163	.	CCTACATTCT	C	5788.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.039;DP=689;ExcessHet=8.2628;FS=6.808;MLEAC=6;MLEAF=0.429;MQ=56.82;MQRankSum=-7.58;QD=9.91;ReadPosRankSum=0.068;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:95,0:95:99:.:.:0,120,1800:.	1	0	6	0
chr3	75737228	75737228	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2395G:p.T799A,ZNF717:NM_001290208:exon5:c.A2395G:p.T799A,ZNF717:NM_001290209:exon5:c.A2245G:p.T749A	.	388	1009	125	0	0	125	0.0583294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00065624303644	.	.	.	.	.	.	.	.	.	.	0.161595	4206	26028	rs80170761	1.428e-06	1.368e-06	1.409e-06	1.447e-06	1.852e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.852e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.08359	T	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.5	0.14408	T	-0.37	0.13226	N	0.031	0.00770	-0.9782	0.35413	T	0.017	0.07092	T	9	0.04005146	0.02542	T	6.56E-4	0.00350	T	0.015	0.02232	.	.	0.0138822411134	0.00435	0.0025070030530107983	0.00232	.	.	0.570732712746	0.48781	T	.	.	.	-0.29288	0.09349	T	-0.658479	0.08369	T	0.0214846075820914	0.00852	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17189	B	.	.	0.201526	0.05865	2.303	0.46300880358559965	0.03698	0.00280	0.01512	N	AEFDBHCI	0.025509	0.01757	N	-1.44896954151032	0.02225	0.09801469	-1.50829558445683	0.02280	0.1046078	0.999662543695307	0.41534	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.79	0.509	0.16177	-3.477000	0.00510	.	.	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4406:0.0:0.0:0.5593	4.801	0.12662	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	464.81	90	chr3	75737228	.	T	C	464.81	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.56;DP=570;ExcessHet=0.4139;FS=32.284;MLEAC=2;MLEAF=0.167;MQ=57.64;MQRankSum=-8.268;QD=2.61;ReadPosRankSum=-2.151;SOR=3.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:94,0:94:99:.:.:0,120,1800:.	4	0	2	1
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S,ZNF717:NM_001290208:exon5:c.C2104T:p.P702S,ZNF717:NM_001290209:exon5:c.C1954T:p.P652S,ZNF717:NM_001324027:exon5:c.C2104T:p.P702S	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	17345.3	136	chr3	75737519	.	G	A	17345.3	.	AC=5;AF=0.357;AN=14;BaseQRankSum=0.36;DP=884;ExcessHet=4.7409;FS=3.313;MLEAC=5;MLEAF=0.357;MQ=55.92;MQRankSum=-5.949;QD=22.97;ReadPosRankSum=-0.619;SOR=0.774	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:86,0:86:99:.:.:0,120,1800:.	2	0	5	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T,ZNF717:NM_001290208:exon5:c.T2033C:p.M678T,ZNF717:NM_001290209:exon5:c.T1883C:p.M628T,ZNF717:NM_001324027:exon5:c.T2033C:p.M678T	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	19118.5	151	chr3	75737590	.	A	G	19118.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.382;DP=1036;ExcessHet=8.2628;FS=1.103;MLEAC=6;MLEAF=0.429;MQ=52.32;MQRankSum=-10.59;QD=20.76;ReadPosRankSum=0.96;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:105,0:105:99:.:.:0,120,1800:.	1	0	6	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R,ZNF717:NM_001290208:exon5:c.A2015G:p.K672R,ZNF717:NM_001290209:exon5:c.A1865G:p.K622R,ZNF717:NM_001324027:exon5:c.A2015G:p.K672R	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	20118.5	159	chr3	75737608	.	T	C	20118.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0;DP=1080;ExcessHet=8.2628;FS=0.522;MLEAC=6;MLEAF=0.429;MQ=52.21;MQRankSum=-11.48;QD=20.81;ReadPosRankSum=1.44;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:109,0:109:99:.:.:0,120,1800:.	1	0	6	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S,ZNF717:NM_001290208:exon5:c.A2001T:p.R667S,ZNF717:NM_001290209:exon5:c.A1851T:p.R617S,ZNF717:NM_001324027:exon5:c.A2001T:p.R667S	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	20414.5	161	chr3	75737622	.	T	A	20414.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.071;DP=1104;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=52.69;MQRankSum=-11.03;QD=20.66;ReadPosRankSum=0.403;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:111,0:111:99:.:.:0,120,1800:.	1	0	6	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C,ZNF717:NM_001290208:exon5:c.C1972T:p.R658C,ZNF717:NM_001290209:exon5:c.C1822T:p.R608C,ZNF717:NM_001324027:exon5:c.C1972T:p.R658C	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	20048.5	160	chr3	75737651	.	G	A	20048.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=2.25;DP=1124;ExcessHet=8.2628;FS=1.1;MLEAC=6;MLEAF=0.429;MQ=53.82;MQRankSum=-10.07;QD=19.95;ReadPosRankSum=-0.18;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:111,0:111:99:.:.:0,120,1800:.	1	0	6	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X,ZNF717:NM_001290208:exon5:c.T1947A:p.C649X,ZNF717:NM_001290209:exon5:c.T1797A:p.C599X,ZNF717:NM_001324027:exon5:c.T1947A:p.C649X	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	18382.8	143	chr3	75737676	.	A	T	18382.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=1.66;DP=1052;ExcessHet=3.6764;FS=3.172;MLEAC=7;MLEAF=0.5;MQ=54.49;MQRankSum=-8.507;QD=19.7;ReadPosRankSum=-0.816;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:111,0:111:99:.:.:0,120,1800:.	1	1	5	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	6783.1	144	chr3	75737840	.	C	T	6783.1	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.503;DP=1016;ExcessHet=1.4958;FS=8.807;MLEAC=6;MLEAF=0.5;MQ=58.64;MQRankSum=-4.22;QD=11.6;ReadPosRankSum=-0.374;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:117,0:117:99:.:.:0,120,1800:.	1	1	4	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R,ZNF717:NM_001290208:exon5:c.A1742G:p.H581R,ZNF717:NM_001290209:exon5:c.A1592G:p.H531R,ZNF717:NM_001324027:exon5:c.A1742G:p.H581R	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	5482.48	133	chr3	75737881	.	T	C	5482.48	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.344;DP=923;ExcessHet=8.2628;FS=16.594;MLEAC=6;MLEAF=0.429;MQ=58.05;MQRankSum=-5.768;QD=6.98;ReadPosRankSum=-3.256;SOR=1.294	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:117,0:117:99:.:.:0,120,1800:.	1	0	6	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290208:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290209:exon5:c.1581_1582insATTT:p.L528Ifs*16,ZNF717:NM_001324027:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	4137.44	128	chr3	75737891	.	G	GAAAT	4137.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=1.04;DP=874;ExcessHet=8.2628;FS=18.679;MLEAC=6;MLEAF=0.429;MQ=57.87;MQRankSum=-7.28;QD=5.55;ReadPosRankSum=-2.558;SOR=1.594	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:117,0:117:99:.:.:0,120,1800:.	1	0	6	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290208:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290209:exon5:c.1579_1580insAAG:p.F527_P864del,ZNF717:NM_001324027:exon5:c.1729_1730insAAG:p.F577_N798del	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	4099.44	122	chr3	75737893	.	A	ACTT	4099.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.181;DP=856;ExcessHet=8.2628;FS=19.985;MLEAC=6;MLEAF=0.429;MQ=57.78;MQRankSum=-7.524;QD=5.65;ReadPosRankSum=-2.157;SOR=1.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:117,0:117:99:.:.:0,120,1800:.	1	0	6	0
chr3	75737948	75737949	CT	-	exonic	ZNF717	.	frameshift deletion	ZNF717:NM_001128223:exon5:c.1674_1675del:p.E560Kfs*4,ZNF717:NM_001290208:exon5:c.1674_1675del:p.E560Kfs*4,ZNF717:NM_001290209:exon5:c.1524_1525del:p.E510Kfs*4,ZNF717:NM_001324027:exon5:c.1674_1675del:p.E560Kfs*4	.	376	813	333	0	0	333	0.169985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs74340838	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0	0.0001	0	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	7.71e-05	0.0002	0.0003	8.659e-05	7.251e-05	0.0001	8.279e-05	4.816e-05	0	0.0003	0	0	0	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	621.5	137	chr3	75737947	.	CCT	C	621.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.801;DP=873;ExcessHet=0;FS=21.818;MLEAC=1;MLEAF=0.071;MQ=58.03;MQRankSum=-6.966;QD=5.22;ReadPosRankSum=1.07;SOR=1.692	GT:AD:DP:GQ:PL	0/0:177,0:177:99:0,120,1800	6	0	1	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K,ZNF717:NM_001290208:exon5:c.G1615A:p.E539K,ZNF717:NM_001290209:exon5:c.G1465A:p.E489K,ZNF717:NM_001324027:exon5:c.G1615A:p.E539K	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00103100052401	.	.	0.0035	0	0	0	0	0.0041	0	0.0070	0.0381512	993	26028	rs77322475	0.0003	0.0005	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	3.974e-05	0.0002	0	2.459e-05	0	0.0004	0.0002	0.0006	0.0003	0.0004	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0001	0	0	0.0003	0	9.43e-05	0	0.0002	0.0009	0.0054	0.057	0.37966	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.57	0.55501	D	0.164	0.17278	-0.9770	0.35683	T	0.011	0.04042	T	9	0.006899923	0.00157	T	0.001031	0.01144	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.004688527706481307	0.00441	.	.	0.455887436867	0.32748	T	.	.	.	-0.247215	0.14443	T	-0.592883	0.13417	T	0.0202189277908029	0.00722	T	0.157184	0.01392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	0.663217	0.10314	7.047	0.74861509555931272	0.10855	0.00293	0.01568	N	AEFDBHCIJ	0.019046	0.00627	N	-1.65826808888533	0.01001	0.04337943	-1.78840371790065	0.00797	0.0355687	0.999985886557565	0.51787	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.8	-3.59	0.04290	-1.723000	0.01966	.	.	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1742:0.3948:0.172:0.259	0.971	0.01326	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	1321.76	158	chr3	75738008	.	C	T	1321.76	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-2.205;DP=1052;ExcessHet=1.1394;FS=1.764;MLEAC=3;MLEAF=0.214;MQ=57.58;MQRankSum=-11.86;QD=2.36;ReadPosRankSum=2.76;SOR=0.963	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:177,0:177:99:.:.:0,120,1800:.	4	0	3	0
chr3	75738053	75738053	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1570T:p.V524F,ZNF717:NM_001290208:exon5:c.G1570T:p.V524F,ZNF717:NM_001290209:exon5:c.G1420T:p.V474F,ZNF717:NM_001324027:exon5:c.G1570T:p.V524F	.	359	1071	92	0	0	92	0.0411817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00104650146877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75063165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	3.18	0.07478	T	-2.6	0.55983	D	0.148	0.15046	-1.0173	0.24592	T	0.014	0.05753	T	9	0.11586878	0.21842	T	0.001047	0.01191	T	0.074	0.21613	.	.	0.0138822411134	0.00435	0.0034182461744823667	0.00319	.	.	0.563414692879	0.47750	T	.	.	.	-0.246862	0.14487	T	-0.592376	0.13461	T	0.28954122460075	0.24571	T	0.0661934	0.00482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.60172	A	.	.	0.533719	0.09024	5.806	0.95230003730299473	0.26460	0.00215	0.01220	N	AEFDBHCIJ	0.026943	0.02113	N	-1.1142521379857	0.06388	0.2939498	-1.36117125995018	0.03676	0.1719606	0.99999365082094	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-3.170000	0.00633	.	.	-2.136000	0.00379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2892:0.3399:0.3708	4.138	0.09647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	854.73	132	chr3	75738053	.	C	A	854.73	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.637;DP=1037;ExcessHet=1.1394;FS=3.146;MLEAC=3;MLEAF=0.214;MQ=57.81;MQRankSum=-10.74;QD=1.6;ReadPosRankSum=-1.046;SOR=1.04	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:219,0:219:99:.:.:0,120,1800:.	4	0	3	0
chr3	75738071	75738071	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1552C:p.C518R,ZNF717:NM_001290208:exon5:c.T1552C:p.C518R,ZNF717:NM_001290209:exon5:c.T1402C:p.C468R,ZNF717:NM_001324027:exon5:c.T1552C:p.C518R	.	356	1145	20	0	1	21	0.00865801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.000738598015433	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78680336	1.676e-06	1.383e-06	1.643e-06	1.712e-06	2.128e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.128e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	0.11191	T	0.621	0.07419	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.21	0.07125	T	2.23	0.00314	N	0.019	0.00279	-0.9149	0.46233	T	0.007	0.02360	T	9	0.046755195	0.03906	T	7.39E-4	0.00510	T	0.031	0.07369	.	.	0.0138822411134	0.00435	0.002225550650649705	0.00206	.	.	0.525679767132	0.42426	T	.	.	.	-0.29785	0.08864	T	-0.665617	0.07892	T	0.0535102972529573	0.06106	T	0.0253975	0.00153	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.53324	B	.	.	-1.114804	0.00623	0.016	0.37644118236720736	0.02493	0.00136	0.00836	N	AEFDBHCIJ	0.016194	0.00350	N	-1.60520409349473	0.01239	0.05388159	-1.61920287810212	0.01543	0.06989911	0.999942708847049	0.47345	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-0.593	0.11083	-1.649000	0.02095	.	.	-2.516000	0.00258	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.17:0.0:0.3549:0.4751	2.786	0.05043	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	345.5	120	chr3	75738071	.	A	G	345.5	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.678;DP=1014;ExcessHet=0.3476;FS=5.489;MLEAC=2;MLEAF=0.143;MQ=58.12;MQRankSum=-10.36;QD=0.89;ReadPosRankSum=-1.169;SOR=1.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:221,0:221:99:.:.:0,120,1800:.	5	0	2	0
chr3	75738074	75738074	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1549T:p.R517C,ZNF717:NM_001290208:exon5:c.C1549T:p.R517C,ZNF717:NM_001290209:exon5:c.C1399T:p.R467C,ZNF717:NM_001324027:exon5:c.C1549T:p.R517C	.	352	1156	14	0	0	14	0.00601892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00168171448549	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs370022573	2.178e-05	2.351e-05	2.299e-05	2.052e-05	7.637e-05	1.515e-05	1.287e-05	2.05e-05	1.277e-05	7.382e-05	0	0	7.637e-05	0	0	1.914e-05	0	6.214e-05	1.314e-05	2.625e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.159	0.23813	T	0.3	0.20357	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.11	0.08194	T	-0.06	0.07882	N	0.048	0.01999	-0.9892	0.32803	T	0.016	0.06569	T	9	0.03303978	0.01470	T	0.001682	0.02779	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.002613494462515561	0.00242	.	.	0.5004529953	0.38892	T	.	.	.	-0.277008	0.10988	T	-0.635679	0.09988	T	0.0130366375576749	0.00227	T	0.0907909	0.00672	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.45520	B	.	.	0.194387	0.05799	2.242	0.73132658542385853	0.10218	0.00363	0.01856	N	AEFDBHCIJ	0.023887	0.01396	N	-1.62321359239289	0.01153	0.05010462	-1.76099622892232	0.00892	0.03989968	0.999989264977476	0.51787	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-2.248000	0.01271	.	.	-5.905000	0.00006	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.629:0.1528:0.2182:0.0	5.171	0.14438	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	161.24	121	chr3	75738074	.	G	A	161.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.546;DP=993;ExcessHet=0.3476;FS=7.822;MLEAC=2;MLEAF=0.143;MQ=58.24;MQRankSum=-9.777;QD=0.43;ReadPosRankSum=-0.957;SOR=1.942	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:212,0:212:99:.:.:0,120,1800:.	5	0	2	0
chr3	75738077	75738077	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1546G:p.F516V,ZNF717:NM_001290208:exon5:c.T1546G:p.F516V,ZNF717:NM_001290209:exon5:c.T1396G:p.F466V,ZNF717:NM_001324027:exon5:c.T1546G:p.F516V	.	351	1158	13	0	0	13	0.00558179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.00436624551321	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78763958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.99	0.41750	T	-6.9	0.93293	D	0.254	0.28732	-0.7956	0.55403	T	0.314	0.68424	T	9	0.37955025	0.54090	T	0.004366	0.10624	T	0.273	0.58883	.	.	0.134241683229	0.13084	0.004951265273006765	0.00467	.	.	0.695522069931	0.66498	T	.	.	.	-0.0135903	0.49761	T	-0.257298	0.49093	T	0.969250798225403	0.68526	D	0.390061	0.09662	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.75417	P	.	.	2.832235	0.37339	20.5	0.96884311371509557	0.31473	0.34734	0.25137	N	AEFDBHCIJ	0.282251	0.39563	N	0.258654387862171	0.54069	3.573403	-0.0427249932617247	0.37806	2.218651	0.999999981817215	0.74766	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.91	1.91	0.24841	4.720000	0.61636	.	.	0.610000	0.48991	0.993000	0.37899	0.919000	0.28284	0.003000	0.05239	1.0:0.0:0.0:0.0	7.900	0.28894	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	101.21	113	chr3	75738077	.	A	C	101.21	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.501;DP=975;ExcessHet=0.3476;FS=13.323;MLEAC=2;MLEAF=0.143;MQ=58.21;MQRankSum=-9.129;QD=0.28;ReadPosRankSum=-1.436;SOR=1.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:212,0:212:99:.:.:0,120,1800:.	5	0	2	0
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E,ZNF717:NM_001290208:exon5:c.G458A:p.G153E,ZNF717:NM_001290209:exon5:c.G308A:p.G103E,ZNF717:NM_001324027:exon5:c.G458A:p.G153E	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	1141.66	74	chr3	75739165	.	C	T	1141.66	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.54;DP=575;ExcessHet=2.5225;FS=20.571;MLEAC=4;MLEAF=0.286;MQ=56.54;MQRankSum=-5.041;QD=3.23;ReadPosRankSum=-0.431;SOR=1.188	GT:AD:DP:GQ:PL	0/0:89,0:89:99:0,120,1800	3	0	4	0
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K,ZNF717:NM_001290208:exon5:c.C340A:p.Q114K,ZNF717:NM_001290209:exon5:c.C190A:p.Q64K,ZNF717:NM_001324027:exon5:c.C340A:p.Q114K	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	2193.79	45	chr3	75739283	.	G	T	2193.79	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.377;DP=386;ExcessHet=6.1542;FS=4.771;MLEAC=5;MLEAF=0.417;MQ=54.1;MQRankSum=-3.42;QD=6.99;ReadPosRankSum=0.077;SOR=0.956	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	1	0	5	1
chr3	75783319	75783319	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon2:c.A44G:p.K15R,ZNF717:NM_001290208:exon2:c.A44G:p.K15R,ZNF717:NM_001290210:exon2:c.A44G:p.K15R,ZNF717:NM_001324027:exon2:c.A44G:p.K15R,ZNF717:NM_001324026:exon3:c.A44G:p.K15R	.	435	1081	6	0	0	6	0.00276753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000564864142892	.	0.000599042	0.0019	0	0	0	0.0067	0.0020	0	0.0019	0.0003816	59	154602	rs200732985	0.0016	0.0016	0.0015	0.0017	0.0025	0.0016	0.0015	0.0019	0.0018	0.0001	0.0017	0.0004	0	0.0048	0.0025	0.0016	0.0013	0.0021	0.0018	0.0018	0.0014	0.0022	0.0040	0.0016	0.0015	0.0032	0.0029	0.0003	0	0.0040	0.0009	0	0.0075	0	0.0015	0.0038	0.0017	0.625	0.05229	T	0.575	0.08654	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.63	0.00800	T	0.16	0.05217	N	0.105	0.08925	-0.9263	0.44673	T	0.008	0.02638	T	9	0.0034832656	0.00062	T	5.65E-4	0.00221	T	0.009	0.00846	.	.	0.0138822411134	0.00435	.	.	.	.	0.44257286191	0.30929	T	.	.	.	-0.362653	0.03982	T	-0.758702	0.03159	T	0.000936598037175086	0.00009	T	0.117088	0.00899	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05491	B	.;.	.;.	-0.654536	0.01430	0.085	0.42003831646120476	0.03067	0.00052	0.00397	N	AEFBI	0.032541	0.03697	N	-2.46002138049039	0.00020	0.0008536196	-2.52387715534705	0.00020	0.0008998555	0.999150149960223	0.38592	0.732398	0.92422	0	0.627608	0.54475	0	0.743671	0.96076	0	0.755437	0.99637	0	.	.	0.682	-1.36	0.08610	-3.613000	0.00464	.	.	-2.122000	0.00385	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.44:0.0:0.2484:0.3115	1.476	0.02279	987	0.02648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	241.63	23	chr3	75783319	.	T	C	241.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.416;DP=195;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-0.37;SOR=0.569	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1122	6	0	1	0
chr3	77477527	77477527	A	G	exonic	ROBO2	.	nonsynonymous SNV	ROBO2:NM_001290039:exon3:c.A502G:p.K168E,ROBO2:NM_001290040:exon3:c.A502G:p.K168E,ROBO2:NM_001378192:exon3:c.A571G:p.K191E,ROBO2:NM_001378193:exon3:c.A502G:p.K168E,ROBO2:NM_001378194:exon3:c.A571G:p.K191E,ROBO2:NM_001378197:exon3:c.A502G:p.K168E,ROBO2:NM_001378198:exon3:c.A571G:p.K191E,ROBO2:NM_001378199:exon3:c.A571G:p.K191E,ROBO2:NM_001378202:exon3:c.A502G:p.K168E,ROBO2:NM_002942:exon3:c.A502G:p.K168E	Vesicoureteral reflux 2	6	1514	1	1	0	3	0.000989772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382	0.019457509585	0.0002	.	2.486e-05	0	0	0	0	4.5e-05	0	0	1.94e-05	3	154602	rs199597054	2.052e-05	2.052e-05	2.314e-05	1.788e-05	0.0007	1.456e-05	1.264e-05	0.0002	0.0001	0	2.236e-05	7.652e-05	0	0	0.0007	1.889e-05	1.656e-05	1.159e-05	1.314e-05	1.313e-05	0	2.69e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.004	0.65419	D	0.005	0.76473	D	0.998	0.73220	D	0.965	0.71173	D	0.000184	0.48115	D	0.000000	.	.	.	0.18	0.09070	N	1.06	0.39781	T	-3.15	0.64132	D	0.7	0.71676	-0.8552	0.51606	T	0.183	0.53072	T	9	0.49842057	0.61404	T	0.019458	0.41828	T	0.382	0.69946	.	.	0.602053550974	0.59887	0.769726173721104	0.76921	0.730891318573	0.62727	0.681784570217	0.64525	T	0.54282	0.84377	D	0.0989007	0.64173	D	-0.0957124	0.63728	T	0.799856722354889	0.46343	D	0.968803	0.88706	D	0.6947109	0.77767	0.5741465	0.75332	0.6947109	0.77769	0.5741465	0.75333	-10.126	0.76455	D	.	.	0.788	0.77802	P	.;.;.;.;.	.;.;.;.;.	4.399582	0.67970	25.2	0.99892490887200514	0.96589	0.99737	0.99085	D	AEFI	0.928006	0.91155	D	0.666911423468878	0.77467	6.680311	0.703026760308266	0.82607	7.809473	0.999999148358569	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.58	5.58	0.84361	9.325000	0.96006	11.273000	0.91473	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.037	0.80437	860	0.33753	.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	262.63	19	chr3	77477527	.	A	G	262.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.775;DP=156;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.152;SOR=0.608	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1062	6	0	1	0
chr3	78633959	78633959	A	G	exonic	ROBO1	.	nonsynonymous SNV	ROBO1:NM_001145845:exon22:c.T3157C:p.S1053P,ROBO1:NM_133631:exon22:c.T3322C:p.S1108P,ROBO1:NM_002941:exon24:c.T3457C:p.S1153P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.645	0.434206632802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.24564	T	0.287	0.21545	T	0.052	0.22494	B	0.035	0.22741	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.275	0.64647	M	-2.75	0.90792	D	-1.04	0.27259	N	0.768	0.86191	0.508	0.90660	D	0.749	0.91426	D	9	0.82341623	0.81532	D	0.434207	0.94040	D	0.645	0.86536	0.391	0.41443	0.92919962095	0.92847	0.31101731231105967	0.31014	0.682588122201	0.60118	0.777273893356	0.78517	T	0.101646	0.40861	T	0.332038	0.85304	D	0.239173	0.85111	D	0.888903379440308	0.53955	D	0.968003	0.88371	D	0.39386642	0.60305	0.32212308	0.58155	0.39386642	0.60305	0.32212308	0.58154	-4.128	0.32867	T	.	.	0.523	0.65894	A	.;.;.;.;.;.	.;.;.;.;.;.	4.242426	0.64330	24.7	0.99815091459211036	0.89885	0.97928	0.78194	D	ALL	0.959048	0.97917	D	0.396331031713412	0.61221	4.320517	0.4731038290936	0.66213	4.922938	0.999999999999998	0.74766	0.661447	0.50134	0	0.623229	0.53319	0	0.644132	0.48003	0	0.668105	0.65232	0	.	.	5.82	5.82	0.92740	8.920000	0.92358	9.349000	0.80281	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.854000	0.40426	1.0:0.0:0.0:0.0	16.183	0.81741	732	0.54084	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1400.45	34	chr3	78633959	.	A	G	1400.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.03;DP=349;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.29;ReadPosRankSum=-1.155;SOR=0.737	GT:AD:DP:GQ:PL	0/1:106,63:169:99:1411,0,2631	6	0	1	0
chr3	78651836	78651836	A	G	exonic	ROBO1	.	nonsynonymous SNV	ROBO1:NM_001145845:exon18:c.T2600C:p.I867T,ROBO1:NM_133631:exon18:c.T2600C:p.I867T,ROBO1:NM_002941:exon19:c.T2708C:p.I903T	.	421	1100	1	0	0	1	0.000454339	.	.	.	1312148	Inborn_genetic_diseases|Congenital_anomaly_of_kidney_and_urinary_tract	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.363	0.0958957855335	.	.	6.628e-05	0.0003	0	0.0001	0	0	0	0.0002	5.17e-05	8	154602	rs746294354	3.558e-05	3.557e-05	3.268e-05	3.851e-05	0.0003	2.763e-05	2.502e-05	0.0002	0.0002	2.988e-05	0	0	5.038e-05	0	0	2.159e-05	3.313e-05	0.0003	5.258e-05	5.253e-05	5.139e-05	5.382e-05	0.0002	2.558e-05	1.83e-05	6.283e-05	4.3e-05	0.0001	0	0	0	0	0	0	1.47e-05	0	0.0002	0.013	0.53900	D	0.006	0.70582	D	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.042647	1	0.81001	D	1.95	0.52479	M	-0.04	0.63240	T	-3.45	0.67589	D	0.413	0.66615	-0.2147	0.77292	T	0.432	0.77316	T	9	0.39592096	0.55225	T	0.095896	0.76509	D	0.363	0.68319	.	.	0.888196944866	0.88709	0.6477200964534271	0.64707	0.182851890055	0.20557	0.858838260174	0.90939	D	0.451849	0.79241	T	0.0545752	0.58930	T	0.140941	0.79605	D	0.182013489960247	0.19362	T	0.894511	0.73102	D	0.33596757	0.55957	0.26617473	0.52459	0.33596757	0.55957	0.26617473	0.52458	-10.815	0.78633	D	.	.	0.558	0.71693	A	.;.;.;.;.;.	.;.;.;.;.;.	3.342948	0.46072	22.2	0.99251074518654936	0.56891	0.98154	0.80066	D	AEFBI	0.852170	0.76907	D	0.443083849758608	0.63811	4.622253	0.361087626824472	0.59178	4.093568	0.99999997677047	0.74766	0.634777	0.41761	0	0.670034	0.63936	0	0.643519	0.47002	0	0.668105	0.65232	0	.	.	6.08	6.08	0.98982	7.507000	0.80548	11.173000	0.88038	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.003000	0.05239	1.0:0.0:0.0:0.0	16.644	0.85012	724	0.55085	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1429	1385.65	33	chr3	78651836	.	A	G	1385.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.31;DP=291;ExcessHet=0.3476;FS=2.954;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=0.348;SOR=0.549	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	5	0	2	0
chr3	86968949	86968949	T	A	exonic	VGLL3	.	nonsynonymous SNV	VGLL3:NM_001320493:exon3:c.A578T:p.H193L,VGLL3:NM_001320494:exon3:c.A419T:p.H140L,VGLL3:NM_016206:exon3:c.A578T:p.H193L	.	402	1099	21	0	0	21	0.00946372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	.	0.0081	0.00379393	0.0074	0.0032	0.0036	0	0.0107	0.0098	0.0067	0.0054	0.007115	1100	154602	rs79345443	0.0098	0.0098	0.0100	0.0097	0.0113	0.0097	0.0096	0.0109	0.0108	0.0021	0.0049	0.0054	5.038e-05	0.0106	0.0113	0.0111	0.0086	0.0058	0.0074	0.0074	0.0073	0.0074	0.0108	0.0070	0.0069	0.0102	0.0099	0.0020	0.0164	0.0056	0.0052	0.0002	0.0116	0.0306	0.0108	0.0099	0.0058	0.004	0.68238	D	0.359	0.23164	T	0.41	0.35064	B	0.071	0.27960	B	0.000429	0.44522	D	0.154637	0.999985	0.54805	D	2.425	0.70256	M	0.88	0.47815	T	-4.36	0.76980	D	0.511	0.54234	-0.8835	0.49480	T	0.110	0.39699	T	10	0.008695096	0.00197	T	.	.	.	0.222	0.51872	.	.	0.276065633971	0.27208	0.5476830193202381	0.54694	0.400510994764	0.41053	0.588839530945	0.51330	T	0.154338	0.49559	T	-0.118266	0.33408	T	0.0653047	0.74597	D	0.0378037034534093	0.03297	T	0.849215	0.53152	T	0.3485719	0.56956	0.3174082	0.57715	0.3485719	0.56956	0.3174082	0.57715	-2.864	0.08788	T	.	.	0.117	0.27433	B	.;.	.;.	3.321003	0.45673	22.2	0.97824064956744039	0.36213	0.97110	0.72748	D	AEFBI	0.616044	0.60276	D	0.240166363538059	0.53154	3.485651	0.351726897792337	0.58611	4.032735	0.999999999999794	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.644132	0.48003	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	2.870000	0.48150	5.137000	0.47688	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	15.816	0.78379	606	0.67383	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015106	0.010101	0.008152	0.020468	0.050000	0.000000	0.021341	0.015152	0.07143	773.44	34	chr3	86968949	.	T	A	773.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.57;DP=243;ExcessHet=0;FS=2.345;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=-1.1;SOR=0.516	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1125	6	0	1	0
chr3	88139596	88139596	C	T	exonic	ZNF654	.	nonsynonymous SNV	ZNF654:NM_001350135:exon6:c.C1588T:p.L530F,ZNF654:NM_001366096:exon6:c.C1291T:p.L431F,ZNF654:NM_001350136:exon7:c.C1291T:p.L431F,ZNF654:NM_001350137:exon7:c.C1105T:p.L369F,ZNF654:NM_001366093:exon7:c.C1291T:p.L431F,ZNF654:NM_001366095:exon7:c.C1291T:p.L431F,ZNF654:NM_001366097:exon7:c.C1105T:p.L369F,ZNF654:NM_001350134:exon8:c.C1927T:p.L643F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00297465771141	.	.	8.389e-06	0	0	0	0	0	0	6.126e-05	6.5e-06	1	154602	rs780834394	8.211e-06	8.209e-06	8.169e-06	8.253e-06	5.797e-05	4.38e-06	3.46e-06	2.194e-05	1.43e-05	0	0	0	0	7.493e-05	0	1.799e-06	1.657e-05	5.797e-05	6.573e-06	6.567e-06	0	1.346e-05	.	0	0	.	.	0	0	0	0	0	9.42e-05	0	0	0	0	0.05	0.39575	D	0.088	0.40586	T	0.0	0.02946	B	0.0	0.01387	B	0.033943	0.01779	N	2.249070	1	0.08975	N	0.895	0.22405	L	2.81	0.10975	T	-1.56	0.37759	N	0.048	0.01999	-1.0088	0.27292	T	0.013	0.05273	T	10	0.057112783	0.06509	T	0.002975	0.06339	T	0.033	0.08068	0.289	0.24921	0.082315109003	0.07666	0.14317772073570484	0.14240	0.228792034998	0.25434	0.259793996811	0.04866	T	0.025304	0.18949	T	-0.375319	0.03333	T	-0.676266	0.07214	T	0.0889345513623763	0.11090	T	0.729627	0.34527	T	0.05165371	0.09519	0.07799161	0.17425	0.05165371	0.09519	0.07799161	0.17425	.	.	.	.	.	0.069	0.03093	B	.;.	.;.	0.301883	0.06776	3.293	0.85878481525863293	0.16170	0.08906	0.14763	N	AEFGBI	0.052883	0.09479	N	-1.3798055917633	0.02827	0.1254204	-1.3853673984307	0.03407	0.1588675	0.950111710923374	0.27879	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	5.14	-2.5	0.06015	-0.209000	0.09362	-0.115000	0.11785	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.074000	0.16894	0.2525:0.3102:0.2506:0.1867	0.949	0.01285	264	0.89640	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1303.46	52	chr3	88139596	.	C	T	1303.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.459;DP=469;ExcessHet=0;FS=4.89;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=1.08;SOR=1.159	GT:AD:DP:GQ:PL	0/0:76,0:76:99:0,120,1800	6	0	1	0
chr3	93900833	93900833	C	T	exonic	PROS1	.	nonsynonymous SNV	PROS1:NM_000313:exon7:c.G698A:p.R233K,PROS1:NM_001314077:exon8:c.G794A:p.R265K	Thrombophilia due to protein S deficiency, autosomal dominant, Autosomal dominant;Thrombophilia due to protein S deficiency, autosomal recessive, Autosomal recessive	79	1375	60	8	0	76	0.0268931	.	.	.	171093	Finnish_congenital_nephrotic_syndrome|Thrombophilia_due_to_protein_S_deficiency,_autosomal_recessive|Retinal_dystrophy|Thrombophilia_due_to_protein_S_deficiency,_autosomal_dominant|Protein_S_deficiency_disease|PROS1-related_disorder	MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839|MONDO:MONDO:0013791,MedGen:C3281092,OMIM:614514,Orphanet:743|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0012868,MedGen:C3278211,OMIM:612336,Orphanet:26349,Orphanet:743|MONDO:MONDO:0002304,MeSH:D018455,MedGen:C0242666|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.502	.	0.0020	0.00698882	0.0074	0.0006	0.0032	0	0.0024	0.0037	0.0099	0.0351	0.0066105	1022	154602	rs41267007	0.0055	0.0055	0.0047	0.0064	0.0338	0.0054	0.0054	0.0328	0.0324	0.0004	0.0025	0.0016	5.039e-05	0.0023	0.0184	0.0040	0.0056	0.0338	0.0031	0.0031	0.0026	0.0035	0.0366	0.0028	0.0027	0.0322	0.0305	0.0006	0	0.0014	0.0003	0	0.0022	0	0.0032	0.0014	0.0366	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.480529	0.12171	N	0.758803	0.999972	0.18612	N	0.58	0.15352	N	-2.22	0.87038	D	0.13	0.05503	N	0.094	0.07398	-0.8327	0.53127	T	0.221	0.58434	T	10	0.0106553435	0.00236	T	.	.	.	0.502	0.78475	.	.	0.679094201566	0.67636	0.3702398663570681	0.36937	0.232416631394	0.25783	0.252426564693	0.04027	T	0.512652	0.82801	D	-0.266576	0.12141	T	-0.13132	0.60861	T	0.00268860779094126	0.00028	T	0.672333	0.34027	T	0.22805142	0.45518	0.050635796	0.07989	0.23177832	0.45955	0.044609684	0.05819	-3.187	0.12322	T	0.09818819590687654	0.06992	0.084	0.11172	B	.;.;.;.;.;.	.;.;.;.;.;.	0.873033	0.12461	8.992	0.72373484607788618	0.09951	0.09182	0.14989	N	AEFI	0.180271	0.30757	N	-0.987964775886933	0.08860	0.4170622	-0.855430635375312	0.13157	0.6810129	1.10828034484068E-5	0.01202	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	4.08	-0.333	0.12042	-0.162000	0.10000	0.805000	0.21696	0.434000	0.20985	0.157000	0.23755	0.999000	0.35428	0.703000	0.34233	0.1717:0.3795:0.2108:0.238	1.258	0.01874	609	0.67094	EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.013990	0.000000	0.012228	0.006849	0.000000	0.017241	0.006135	0.034091	0.07143	1362.53	108	chr3	93900833	.	C	T	1362.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.664;DP=282;ExcessHet=0;FS=0.722;MLEAC=1;MLEAF=0.071;MQ=59.6;MQRankSum=-1.072;QD=12.62;ReadPosRankSum=-0.521;SOR=0.799	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1290	6	0	1	0
chr3	93980479	93980479	T	C	exonic	ARL13B	.	nonsynonymous SNV	ARL13B:NM_001174150:exon1:c.T56C:p.V19A,ARL13B:NM_144996:exon1:c.T56C:p.V19A,ARL13B:NM_182896:exon1:c.T56C:p.V19A	Joubert syndrome 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0322811520281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.054	0.47097	T	0.93	0.51791	P	0.636	0.51948	P	0.058802	0.22372	N	0.452832	0.996373	0.81001	D	-0.315	0.03579	N	-0.15	0.65192	T	-2.52	0.54702	D	0.618	0.63374	-0.7598	0.57416	T	0.180	0.52629	T	10	0.23980266	0.43067	T	0.032281	0.54147	D	0.094	0.27141	0.323	0.30387	0.645970908164	0.64304	0.4076847963345252	0.40684	0.0892575461571	0.10086	0.655625462532	0.60785	T	0.048156	0.27935	T	-0.0377022	0.46290	T	-0.291933	0.45571	T	0.654345273971558	0.38650	D	0.30207	0.32236	T	0.0843239	0.19511	0.08834905	0.20595	0.0843239	0.19511	0.08834905	0.20594	-3.199	0.39033	T	0.11907949202924008	0.11055	0.230	0.46261	B	.;.;.	.;.;.	2.871083	0.37961	20.6	0.94581568466407084	0.25124	0.90245	0.51269	D	ALL	0.467127	0.51449	N	-0.0221803172375944	0.40853	2.433313	0.0726519046580059	0.43179	2.62505	0.999999999996588	0.74766	0.468429	0.09910	2	0.484254	0.07192	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	5.07	5.07	0.68106	3.511000	0.53157	5.912000	0.51036	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.212000	0.22240	0.0:0.0:0.0:1.0	11.395	0.49079	694	0.58444	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr3	93980479	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1191	6	1	0	0
chr3	97872363	97872363	G	A	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.G1169A:p.R390H	.	441	1080	1	0	0	1	0.000462749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1409061443	1.156e-05	1.163e-05	1.284e-05	1.025e-05	5.597e-05	6.85e-06	5.54e-06	9.27e-06	5.89e-06	0	0	0	5.597e-05	0	0	1.298e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.54934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.02964	-0.9734	0.36474	T	0.069	0.28379	T	7	0.06773341	0.09478	T	.	.	.	.	.	0.241	0.17371	0.202949470691	0.19918	0.09166260811329309	0.09099	.	.	0.22244143486	0.01455	T	7.9E-4	0.00383	T	-0.32232	0.06709	T	-0.675586	0.07255	T	0.153352687518948	0.17368	T	0.660234	0.26930	T	0.037188437	0.04720	0.09363927	0.22126	0.037188437	0.04719	0.09363927	0.22125	-3.725	0.19688	T	.	.	0.095	0.15115	B	.	.	2.253315	0.28784	17.91	0.94131426572020904	0.24316	0.17508	0.19867	N	ALL	0.085477	0.17327	N	-0.688299071629739	0.16353	0.8324595	-0.646291625153599	0.18310	0.9775666	0.999999997471369	0.74766	0.780599	0.99702	0	0.588015	0.36545	0	0.618467	0.43123	0	0.600164	0.37192	1	.	.	5.96	4.08	0.46880	0.896000	0.28009	3.634000	0.39325	0.676000	0.76740	0.001000	0.13787	0.978000	0.30204	0.063000	0.16184	0.0862:0.1596:0.7542:0.0	9.189	0.36348	797	0.45241	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1863.44	35	chr3	97872363	.	G	A	1863.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.227;DP=413;ExcessHet=0;FS=1.371;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=2.1;SOR=0.564	GT:AD:DP:GQ:PL	0/0:88,0:88:99:0,120,1800	6	0	1	0
chr3	97876101	97876101	T	A	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.T4907A:p.V1636E	.	550	963	7	2	0	11	0.00567888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	0.0015368	40	26028	rs563227058	0.0019	0.0014	0.0020	0.0019	0.0058	0.0019	0.0019	0.0037	0.0031	0.0003	0.0010	0.0025	0	4.646e-05	0.0058	0.0021	0.0026	0.0008	0.0014	0.0014	0.0015	0.0013	0.0023	0.0012	0.0012	0.0020	0.0018	0.0005	0	0.0010	0.0032	0	0	0.0136	0.0023	0.0014	0.0006	.	.	.	0.518	0.10536	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.47487	.	.	.	.	.	.	.	0.082324326	0.13574	T	.	.	.	.	.	.	.	0.511390160789	0.50780	0.018251165105256286	0.01779	.	.	.	.	.	0.006785	0.06218	T	-0.352112	0.04595	T	-0.283488	0.46446	T	.	.	.	0.283372	0.04986	T	0.2454906	0.47508	0.42236373	0.66140	0.2454906	0.47508	0.42236373	0.66140	-6.021	0.46455	T	.	.	0.155	0.34361	B	.	.	0.785365	0.11556	8.151	0.69355214578720015	0.08946	0.05428	0.11301	N	AEFBI	.	.	.	.	.	.	.	.	.	6.40570740953169E-5	0.04366	0.162113	0.03585	0	0.195528	0.04277	0	0.183335	0.04453	0	0.24566	0.04862	0	0.173009	0.29061	4.69	-0.601	0.11054	0.026000	0.13490	-0.205000	0.10907	0.665000	0.62972	0.001000	0.13787	0.000000	0.08366	0.082000	0.17360	0.0:0.3364:0.0:0.6636	8.498	0.32299	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2099.44	62	chr3	97876101	.	T	A	2099.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.24;DP=652;ExcessHet=0;FS=1.123;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-1.147;SOR=0.783	GT:AD:DP:GQ:PL	0/1:109,83:192:99:2110,0,2953	6	0	1	0
chr3	98133151	98133151	G	C	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.G454C:p.G152R	.	437	1068	17	0	0	17	0.00789596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.00748954570862	.	0.0061901	0.0001	0.0005	0	0.0004	0	6.09e-05	0	6.077e-05	0.001191	31	26028	rs62269699	5.485e-06	0.0004	1.365e-06	9.646e-06	3.489e-05	2.36e-06	1.71e-06	9.27e-06	4.57e-06	0	0	0	2.523e-05	0	0	3.605e-06	0	3.489e-05	0.0001	0.0012	9.045e-05	0.0001	0.0004	7.618e-05	6.315e-05	7.398e-05	4.317e-05	0.0001	0	0	0	0	0.0003	0	0.0001	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.005319	0.32910	N	0.139307	0.999993	0.08975	N	3.385	0.91502	M	1.03	0.40469	T	-7.88	0.96142	D	0.692	0.69737	-0.4953	0.68819	T	0.366	0.72635	T	10	0.045358837	0.03597	T	0.00749	0.19872	T	0.313	0.63482	.	.	0.668405542074	0.66561	0.45910202444397175	0.45828	0.978056266541	0.73627	0.322247475386	0.13761	T	0.016143	0.13402	T	-0.00370609	0.51143	T	-0.2431	0.50496	T	0.501703798770905	0.32692	D	0.968003	0.88371	D	0.8740408	0.89184	0.81504154	0.89221	0.8740408	0.89185	0.81504154	0.89222	-9.524	0.71008	D	.	.	0.722	0.73863	P	.;.	.;.	3.477003	0.48538	22.6	0.99625979717033541	0.75716	0.94413	0.61086	D	AEFI	0.561969	0.56974	D	0.437414757732708	0.63494	4.584072	0.186536109810743	0.49110	3.118092	0.0500893002353768	0.14827	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	3.57	0.40014	1.191000	0.31747	.	.	0.435000	0.21004	0.016000	0.19238	0.177000	0.23390	0.002000	0.04165	0.0:0.0:1.0:0.0	12.662	0.56185	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003236	0.005263	0.002725	0.000000	0.000000	0.000000	0.006369	0.003817	0.07143	478.44	58	chr3	98133151	.	G	C	478.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.349;DP=680;ExcessHet=0;FS=2.55;MLEAC=1;MLEAF=0.071;MQ=48.07;MQRankSum=-8.2;QD=1.51;ReadPosRankSum=0.967;SOR=0.525	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	6	0	1	0
chr3	98133456	98133460	ACCCC	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.759_763del:p.P254Sfs*14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.704e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	282.4	57	chr3	98133455	.	GACCCC	G	282.4	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.421;DP=401;ExcessHet=0.3476;FS=73.735;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=2.8;ReadPosRankSum=0.974;SOR=6.09	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:67,0:67:99:.:.:0,120,1800:.	5	0	2	0
chr3	98133457	98133460	CCCC	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.760_763del:p.P254Ffs*31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0036	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.04e-05	0	0	5.047e-05	0	0	0.0002	0.0001	4.649e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1231.26	57	chr3	98133456	.	ACCCC	A	1231.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-3.113;DP=454;ExcessHet=2.5225;FS=282.521;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=4.15;ReadPosRankSum=2;SOR=8.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:67,0:67:99:.:.:0,120,1800:.	5	0	2	0
chr3	98133456	98133460	ACCCC	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1231.26	57	chr3	98133456	.	ACCCC	*	1231.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-3.113;DP=454;ExcessHet=2.5225;FS=282.521;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=4.15;ReadPosRankSum=2;SOR=8.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:67,0:67:99:.:.:0,120,1800:.	5	0	2	0
chr3	98133460	98133460	-	GGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGG:p.L255Rfs*16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1231.31	57	chr3	98133460	.	C	CGGGG	1231.31	.	AC=1;AF=0.125;AN=8;DP=408;ExcessHet=3.1439;FS=240.928;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=4.49;ReadPosRankSum=1.34;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:43,0:43:0:.:.:0,0,606:.	3	0	1	3
chr3	98133460	98133460	-	TGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insTGGG:p.L256Gfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1231.31	57	chr3	98133460	.	C	CTGGG	1231.31	.	AC=1;AF=0.125;AN=8;DP=408;ExcessHet=3.1439;FS=240.928;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=4.49;ReadPosRankSum=1.34;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:43,0:43:0:.:.:0,0,606:.	3	0	1	3
chr3	98133460	98133460	-	GGGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGGG:p.L255Rfs*33	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1231.31	57	chr3	98133460	.	C	CGGGGG	1231.31	.	AC=2;AF=0.25;AN=8;DP=408;ExcessHet=3.1439;FS=240.928;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=4.49;ReadPosRankSum=1.34;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:43,0:43:0:.:.:0,0,606:.	2	0	2	3
chr3	98133463	98133463	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C766G:p.L256V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00126498386421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.068	0.44106	T	0.005	0.12996	B	0.053	0.25678	B	0.261193	0.15311	N	0.542116	1	0.08975	N	0.915	0.23335	L	0.99	0.41750	T	-2.16	0.48850	N	0.126	0.11912	-1.0038	0.28814	T	0.079	0.31466	T	10	0.049896806	0.04644	T	0.001265	0.01708	T	0.026	0.05648	0.296	0.26041	0.128392430309	0.12331	0.03494044702375308	0.03441	0.301753269651	0.32506	0.278658390045	0.07306	T	0.006	0.05345	T	-0.262441	0.12617	T	-0.614755	0.11603	T	0.125886231660843	0.14996	T	0.469153	0.13854	T	0.1777599	0.38759	0.102822304	0.24655	0.1777599	0.38758	0.102822304	0.24654	-4.104	0.25349	T	.	.	0.129	0.31151	B	.;.	.;.	1.199857	0.15918	12.19	0.77165719573394564	0.11763	0.00876	0.03464	N	AEFI	0.031298	0.03314	N	-1.1071760963484	0.06514	0.3000934	-1.14194788532371	0.06913	0.3344078	1.71832632022719E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	0.621	0.16817	-1.594000	0.02198	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.108000	0.18652	0.1779:0.4335:0.1738:0.2148	1.131	0.01639	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	1005.37	59	chr3	98133463	.	C	G	1005.37	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-3.869;DP=388;ExcessHet=1.1394;FS=181.558;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=5.29;ReadPosRankSum=1.84;SOR=7.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:64,0:64:99:.:.:0,120,1800:.	4	0	3	0
chr3	98149839	98149839	G	C	exonic	OR5H14	.	nonsynonymous SNV	OR5H14:NM_001005514:exon1:c.G454C:p.G152R	.	437	1077	8	0	0	8	0.00370028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	.	.	.	0.0115	0.0137	0.0021	0.0179	0.0062	0.0087	0.0090	0.0270	0.0016905	44	26028	rs78410857	0.0004	0.0085	0.0004	0.0004	0.0010	0.0004	0.0004	0.0007	0.0006	0.0010	4.492e-05	3.86e-05	0.0004	9.418e-05	0.0002	0.0004	0.0004	0.0008	3.309e-05	0.0003	3.885e-05	2.707e-05	0.0002	1.268e-05	8.03e-06	1.948e-05	1.04e-05	7.347e-05	0	6.582e-05	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.005543	0.32703	N	0.140152	0.999857	0.20048	N	3.35	0.91085	M	1.03	0.40469	T	-7.85	0.96058	D	0.222	0.24883	-0.6297	0.63583	T	0.338	0.70420	T	10	0.00857386	0.00194	T	.	.	.	0.209	0.49871	.	.	.	.	0.5187554053031648	0.51798	0.0898496577551	0.10143	0.325279295444	0.14220	T	0.031164	0.21915	T	-0.0191416	0.48975	T	-0.265272	0.48296	T	0.157193166803508	0.17662	T	0.974003	0.90706	D	0.8919664	0.90676	0.84891206	0.91431	0.8919664	0.90678	0.84891206	0.91432	-9.422	0.70373	D	.	.	0.475	0.63443	A	.;.	.;.	3.698689	0.52737	23.3	0.99619230385724322	0.75293	0.85526	0.44667	D	AEFI	0.193363	0.32048	N	0.232495398458627	0.52779	3.450055	-0.0587603305820194	0.37115	2.168742	3.559475619944E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.49	2.49	0.29274	1.859000	0.39058	.	.	0.544000	0.25403	0.026000	0.20160	0.000000	0.08366	0.015000	0.10482	0.0:0.0:1.0:0.0	10.621	0.44673	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.032461	0.005155	0.028610	0.014493	0.000000	0.060345	0.042945	0.061538	0.07143	117.44	86	chr3	98149839	.	G	C	117.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.155;DP=924;ExcessHet=0;FS=6.047;MLEAC=1;MLEAF=0.071;MQ=48.91;MQRankSum=-6.745;QD=0.37;ReadPosRankSum=-2.574;SOR=0.366	GT:AD:DP:GQ:PL	0/0:161,0:161:99:0,120,1800	6	0	1	0
chr3	98283683	98283683	C	T	exonic	OR5H2	.	nonsynonymous SNV	OR5H2:NM_001005482:exon1:c.C796T:p.R266C	.	436	1066	18	2	0	22	0.0102136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0066	0.00379393	0.0063	0.0011	0.0067	0	0.0044	0.0077	0.0155	0.0072	0.0063389	980	154602	rs17787561	0.0073	0.0073	0.0072	0.0074	0.0113	0.0072	0.0072	0.0091	0.0083	0.0013	0.0078	0.0082	0	0.0069	0.0113	0.0077	0.0075	0.0074	0.0059	0.0059	0.0058	0.0060	0.0097	0.0056	0.0054	0.0084	0.0080	0.0015	0.0011	0.0097	0.0107	0.0002	0.0049	0.0136	0.0079	0.0114	0.0056	0.067	0.35918	T	0.053	0.47336	T	0.059	0.23051	B	0.024	0.20255	B	0.159738	0.17701	U	0.410613	1	0.08975	N	2.42	0.70002	M	1.29	0.35775	T	-3.22	0.64939	D	0.067	0.03956	-1.0152	0.25272	T	0.055	0.23186	T	10	0.008219928	0.00187	T	.	.	.	0.033	0.08068	.	.	0.366277470483	0.36239	0.10926526766360327	0.10855	0.0203041429472	0.01996	0.2047714293	0.00609	T	0.006162	0.05598	T	-0.589192	0.00170	T	-0.607433	0.12195	T	0.00985053846370298	0.00130	T	0.455554	0.13039	T	0.14295922	0.32877	0.11448131	0.27634	0.14295922	0.32877	0.11448131	0.27633	-7.856	0.60085	D	.	.	0.118	0.30713	B	.;.	.;.	1.805741	0.22947	15.83	0.75477644448646841	0.11090	0.02887	0.07671	N	AEFI	0.049293	0.08500	N	-1.11984821568533	0.06291	0.2891762	-1.25655528946903	0.05034	0.2389404	1.39399034786534E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.03	-1.07	0.09459	-0.032000	0.12217	.	.	-2.099000	0.00395	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1797:0.3604:0.0:0.4599	3.522	0.07302	756	0.51065	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010574	0.025253	0.010870	0.005848	0.000000	0.017241	0.006098	0.007576	0.07143	1438.53	34	chr3	98283683	.	C	T	1438.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.64;DP=361;ExcessHet=0;FS=1.498;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-1.084;SOR=0.886	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1278	6	0	1	0
chr3	98532376	98532376	G	A	exonic	GPR15	.	nonsynonymous SNV	GPR15:NM_005290:exon1:c.G343A:p.V115I	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.330	0.0277212106973	7.7e-05	0.000199681	9.061e-05	0	0	0	0	0.0001	0.0011	6.057e-05	9.06e-05	14	154602	rs189514169	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0002	0.0001	2.987e-05	0.0001	0	2.519e-05	0	0.0007	0.0001	0.0002	6.956e-05	0.0003	0.0003	0.0002	0.0004	0.0018	0.0002	0.0002	0.0013	0.0011	0	0	0.0018	0	0	0	0.0034	0.0002	0.0005	0	0.003	0.68238	D	0.476	0.12037	T	1.0	0.90584	D	0.992	0.80445	D	0.000303	0.45977	D	0.000000	0.989207	0.40907	D	1.76	0.45711	L	-0.69	0.72678	T	-0.15	0.09297	N	0.31	0.34981	-0.2038	0.77572	T	0.414	0.76170	T	10	0.31972027	0.49355	T	0.027721	0.50496	D	0.330	0.65226	.	.	0.839121198241	0.83758	0.20924896826721248	0.20840	0.289863403258	0.31394	0.498795092106	0.38660	T	0.004428	0.03837	T	-0.264284	0.12402	T	-0.343102	0.39993	T	0.215377494692802	0.21231	T	0.822018	0.48145	T	0.2895511	0.51951	0.2670073	0.52553	0.2895511	0.51951	0.2670073	0.52552	-5.367	0.40601	T	.	.	0.121	0.25265	B	.	.	3.606565	0.50966	23.0	0.99861702778433048	0.94002	0.90206	0.51201	D	ALL	0.652031	0.62557	D	0.522343226782585	0.68412	5.213813	0.48072474378235	0.66714	4.988152	0.999999999978396	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.83	3.96	0.45097	5.688000	0.67889	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.089000	0.17737	0.0909:0.0:0.9091:0.0	11.039	0.47033	470	0.78111	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	704.63	33	chr3	98532376	.	G	A	704.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.816;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.373;SOR=0.579	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	6	0	1	0
chr3	99848726	99848726	C	T	exonic	FILIP1L	.	nonsynonymous SNV	FILIP1L:NM_001282794:exon2:c.G2230A:p.A744T,FILIP1L:NM_014890:exon2:c.G2230A:p.A744T,FILIP1L:NM_001282793:exon3:c.G1678A:p.A560T,FILIP1L:NM_001370247:exon3:c.G2230A:p.A744T,FILIP1L:NM_001042459:exon5:c.G2950A:p.A984T,FILIP1L:NM_182909:exon5:c.G2950A:p.A984T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00613755088643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.722e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.07846	T	0.581	0.11335	T	0.001	0.11197	B	0.003	0.12992	B	0.002277	0.36887	N	0.121048	1	0.81001	D	1.935	0.51832	L	2.05	0.26737	T	-0.45	0.24460	N	0.074	0.09631	-1.0678	0.09903	T	0.044	0.18906	T	10	0.061981708	0.07856	T	0.006138	0.16082	T	0.048	0.13305	0.085	0.00830	0.231231049324	0.22751	0.3711789131971211	0.37031	0.0599924990014	0.06676	0.422872066498	0.28232	T	0.019522	0.15537	T	-0.258573	0.13068	T	-0.609198	0.12050	T	0.274727652270494	0.23948	T	0.753825	0.42297	T	0.035471987	0.04181	0.052282434	0.08582	0.035471987	0.04181	0.052282434	0.08581	-3.626	0.22948	T	.	.	0.070	0.03336	B	.;.;.;.;.;.	.;.;.;.;.;.	2.260521	0.28881	17.94	0.83803713707682026	0.14928	0.76643	0.37606	D	AEFBCI	0.233653	0.35654	N	-0.237294562157724	0.31613	1.774431	-0.0493580221508901	0.37519	2.197808	0.999999748427209	0.74766	0.706548	0.73137	0	0.624146	0.53433	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	6.17	4.4	0.52402	2.129000	0.41677	3.369000	0.37918	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.1408:0.7175:0.0:0.1417	7.701	0.27789	444	0.79803	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	3478.53	33	chr3	99848726	.	C	T	3478.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.877;DP=441;ExcessHet=0;FS=6.8;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=1.07;SOR=1.067	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	6	0	1	0
chr3	100655097	100655097	G	A	exonic	ADGRG7	.	nonsynonymous SNV	ADGRG7:NM_001308362:exon6:c.G757A:p.A253T,ADGRG7:NM_032787:exon12:c.G1642A:p.A548T	.	.	.	.	.	.	.	.	.	.	.	2469727	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.267	0.0294338348968	7.7e-05	.	1.649e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs368926208	1.368e-05	1.368e-05	1.225e-05	1.513e-05	2.987e-05	8.94e-06	7.26e-06	8.52e-06	6.89e-06	2.987e-05	0	0	0	0	0	1.439e-05	1.656e-05	2.319e-05	4.597e-05	4.594e-05	3.855e-05	5.373e-05	0.0001	2.108e-05	1.526e-05	4.729e-05	3.046e-05	0.0001	0	0	0	0	0	0	1.47e-05	0.0005	0	0.007	0.65419	D	0.012	0.63918	D	0.941	0.61523	P	0.233	0.58704	B	0.011076	0.29673	N	0.289256	0.754213	0.29606	N	.	.	.	0.59	0.53943	T	-2.93	0.61284	D	0.541	0.56833	-0.4055	0.71853	T	0.323	0.69177	T	10	0.6052943	0.67140	D	0.029434	0.51946	D	0.267	0.58126	.	.	0.6813124193	0.67860	0.565391247620744	0.56466	0.195825087434	0.21939	0.380387425423	0.22311	T	0.099801	0.40497	T	-0.141956	0.29581	T	-0.205018	0.54171	T	0.880056023597717	0.53005	D	0.779722	0.45238	T	0.14652902	0.33538	0.21818419	0.46512	0.14652902	0.33538	0.21818419	0.46511	-9.195	0.68943	D	.	.	0.326	0.54926	B	.;.	.;.	2.838712	0.37442	20.5	0.99621589468348171	0.75473	0.76548	0.37551	D	AEFBI	0.404592	0.47781	N	0.317745998972681	0.57060	3.871969	0.225467575687849	0.51264	3.310515	0.309882239880683	0.19276	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.59	4.69	0.58546	2.403000	0.44184	6.394000	0.55564	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.0:0.0:0.6272:0.3728	11.208	0.48008	694	0.58444	GPCR, family 2-like;GPCR, family 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2786.44	33	chr3	100655097	.	G	A	2786.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.179;DP=390;ExcessHet=0;FS=1.749;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=-2.043;SOR=0.854	GT:AD:DP:GQ:PL	0/1:87,116:203:99:2797,0,2089	6	0	1	0
chr3	100775231	100775231	C	G	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.G2284C:p.V762L,ABI3BP:NM_001349332:exon28:c.G2359C:p.V787L,ABI3BP:NM_001349331:exon35:c.G2746C:p.V916L,ABI3BP:NM_001365642:exon40:c.G3112C:p.V1038L,ABI3BP:NM_001377332:exon49:c.G3691C:p.V1231L,ABI3BP:NM_001349330:exon54:c.G4015C:p.V1339L,ABI3BP:NM_001349329:exon57:c.G4225C:p.V1409L,ABI3BP:NM_001375549:exon59:c.G4390C:p.V1464L,ABI3BP:NM_001375550:exon59:c.G4396C:p.V1466L,ABI3BP:NM_001375547:exon60:c.G4438C:p.V1480L	.	428	1053	38	3	0	44	0.0204651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0024	0.00778754	0.0058	0.0001	0.0038	0.0001	0.0002	0.0030	0.0053	0.0282	0.0045924	710	154602	rs141302553	0.0036	0.0037	0.0030	0.0043	0.0235	0.0036	0.0035	0.0227	0.0223	0.0005	0.0031	0.0007	0	0.0003	0.0147	0.0025	0.0037	0.0235	0.0026	0.0026	0.0023	0.0029	0.0243	0.0024	0.0023	0.0207	0.0194	0.0004	0	0.0027	0.0003	0	0.0002	0.0068	0.0030	0.0038	0.0243	0.052	0.39097	T	0.242	0.24264	T	0.575	0.38708	P	0.17	0.35299	B	0.254282	0.15444	N	0.663319	0.999809	0.20292	N	1.01	0.25309	L	2.3	0.22067	T	-1.15	0.29525	N	0.183	0.19861	-1.0594	0.11905	T	0.023	0.09832	T	10	0.003952503	0.00076	T	.	.	.	0.015	0.02232	.	.	0.527759996296	0.52422	0.28051411292793593	0.27964	0.0954240108754	0.10779	0.301007211208	0.10550	T	0.018758	0.26335	T	-0.544653	0.00314	T	-0.536879	0.18604	T	0.0113682145057753	0.00169	T	0.855414	0.54290	D	0.087015405	0.20245	0.07827063	0.17516	0.087015405	0.20245	0.07827063	0.17516	.	.	.	.	.	0.166	0.36515	B	.;.;.	.;.;.	1.770697	0.22515	15.65	0.98556643482280593	0.42922	0.60854	0.31315	D	AEFBI	0.218867	0.34383	N	-0.345431351367633	0.27441	1.505536	-0.236779375550058	0.30228	1.700263	0.993254032926957	0.33144	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	5.0	4.13	0.47661	1.054000	0.30064	1.754000	0.28498	0.549000	0.26987	0.504000	0.26986	0.003000	0.18671	0.502000	0.29062	0.0:0.9006:0.0:0.0994	9.451	0.37891	722	0.55239	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010111	0.000000	0.002717	0.005848	0.000000	0.000000	0.018405	0.034351	0.08333	273.27	40	chr3	100775231	.	C	G	273.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.68;DP=201;ExcessHet=0;FS=1.258;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.83;ReadPosRankSum=1.51;SOR=0.469	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1058	5	0	1	1
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V,ABI3BP:NM_001349332:exon28:c.A2257G:p.I753V,ABI3BP:NM_001349331:exon35:c.A2644G:p.I882V,ABI3BP:NM_001365642:exon40:c.A3010G:p.I1004V,ABI3BP:NM_001377332:exon49:c.A3589G:p.I1197V,ABI3BP:NM_001349330:exon54:c.A3913G:p.I1305V,ABI3BP:NM_001349329:exon57:c.A4123G:p.I1375V,ABI3BP:NM_001375549:exon59:c.A4288G:p.I1430V,ABI3BP:NM_001375550:exon59:c.A4294G:p.I1432V,ABI3BP:NM_001375547:exon60:c.A4336G:p.I1446V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	663.23	21	chr3	100775333	.	T	C	663.23	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.389;DP=165;ExcessHet=3.1439;FS=142.707;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=5.67;ReadPosRankSum=1.34;SOR=8.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:29,6:35:41:.:.:0,41,576:.	2	0	4	1
chr3	101849792	101849792	T	C	exonic	NFKBIZ	.	nonsynonymous SNV	NFKBIZ:NM_031419:exon1:c.T164C:p.L55S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0860264527855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.516e-06	4.788e-06	0	3.074e-06	1.904e-06	2.5e-07	9e-08	3.2e-07	1.2e-07	0	0	0	0	0	0	1.904e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.894	0.05844	T	0.0	0.02946	B	0.0	0.01387	B	0.159257	0.17715	N	0.457817	1	0.20249	N	-1.61	0.00416	N	0.72	0.50976	T	3.02	0.05035	N	0.065	0.04072	-1.0159	0.25045	T	0.043	0.18326	T	10	0.02606985	0.00783	T	0.086026	0.74653	D	0.081	0.23632	0.143	0.04650	0.0934897674506	0.08844	0.10532647638640785	0.10462	0.319986332736	0.34200	0.839098572731	0.87957	D	0.006717	0.43796	T	-0.099167	0.36562	T	-0.380223	0.35697	T	0.0766983691931172	0.09560	T	0.243776	0.04045	T	0.02863422	0.02232	0.06805178	0.14159	0.02863422	0.02232	0.06805178	0.14159	-2.851	0.08663	T	.	.	0.037	0.00478	B	.;.;.	.;.;.	1.483955	0.19096	14.09	0.49423993077283257	0.04208	0.01056	0.03928	N	ALL	0.013350	0.00174	N	-1.28292530581562	0.03880	0.1741689	-1.17225931950209	0.06376	0.306745	0.99999999999457	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	4.33	2.49	0.29274	1.244000	0.32381	2.864000	0.35221	-0.387000	0.05364	0.027000	0.20232	0.042000	0.21616	0.347000	0.25591	0.0:0.8049:0.0:0.1951	7.961	0.29234	875	0.30485	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1077.27	33	chr3	101849792	.	T	C	1077.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.196;DP=199;ExcessHet=0;FS=1.294;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=27.62;ReadPosRankSum=0.411;SOR=0.498	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,27:39:99:0|1:101849791_T_C:1087,0,423:101849791	5	0	1	1
chr3	105541655	105541655	G	T	exonic	ALCAM	.	nonsynonymous SNV	ALCAM:NM_001243280:exon8:c.G881T:p.S294I,ALCAM:NM_001243281:exon8:c.G881T:p.S294I,ALCAM:NM_001627:exon8:c.G881T:p.S294I	.	.	.	.	.	.	.	.	.	.	.	2350176	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.292	0.0130571086578	.	.	8.321e-06	0	0	0	0	1.511e-05	0	0	1.29e-05	2	154602	rs774291073	1.301e-05	1.3e-05	1.499e-05	1.102e-05	0.0007	8.32e-06	6.71e-06	0.0002	0.0001	8.997e-05	0	0	0	0	0.0007	9.003e-06	3.318e-05	0	6.586e-06	6.569e-06	1.287e-05	0	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	0.003	0.68238	D	0.009	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	D	0.153246	0.999951	0.81001	D	2.38	0.68558	M	2.5	0.14408	T	-2.18	0.53096	N	0.539	0.57348	-1.1848	0.00304	T	0.104	0.38267	T	10	0.37436897	0.53718	T	0.013057	0.32163	T	0.292	0.61157	0.465	0.53566	0.385559283137	0.38164	0.6649694188014776	0.66433	0.541051699682	0.51276	0.607780694962	0.54002	T	0.163571	0.50869	T	0.0241052	0.54933	T	-0.187665	0.55808	T	0.916055917739868	0.57333	D	0.925907	0.72722	D	0.8981655	0.91219	0.8099924	0.88900	0.8981655	0.91220	0.8099924	0.88900	-4.756	0.34743	T	.	.	0.266	0.53503	B	.;.;.	.;.;.	4.870760	0.79790	27.2	0.99712850212661408	0.81493	0.96458	0.69239	D	AEFBI	0.726538	0.67517	D	0.778610265046036	0.84750	8.376056	0.794342167582309	0.89397	9.95815	0.999999999902184	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	5.113000	0.64480	11.753000	0.95453	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.879	0.99870	674	0.60593	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	546.44	33	chr3	105541655	.	G	T	546.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.151;DP=257;ExcessHet=0;FS=4.738;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.29;ReadPosRankSum=-0.188;SOR=1.286	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1169	6	0	1	0
chr3	107747993	107747993	C	T	exonic	BBX	.	nonsynonymous SNV	BBX:NM_001142568:exon9:c.C779T:p.A260V,BBX:NM_001276286:exon9:c.C779T:p.A260V,BBX:NM_020235:exon9:c.C779T:p.A260V	.	432	1076	14	0	0	14	0.00646353	.	.	.	697736	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.270	.	0.0012	0.00119808	0.0026	0.0005	0.0008	0	0.0008	0.0017	0.0055	0.0110	0.0022703	351	154602	rs150121801	0.0019	0.0019	0.0016	0.0022	0.0112	0.0018	0.0018	0.0106	0.0104	8.973e-05	0.0009	0.0024	2.524e-05	0.0004	0.0049	0.0014	0.0025	0.0112	0.0011	0.0011	0.0010	0.0012	0.0097	0.0010	0.0009	0.0075	0.0067	0.0001	0.0033	0.0008	0.0017	0	0.0003	0.0068	0.0012	0.0024	0.0097	0.275	0.46513	T	0.362	0.38160	T	0.05	0.28155	B	0.053	0.38054	B	0.671593	0.10337	N	0.864450	0.999996	0.08975	N	0.345	0.11182	N	-4.68	0.98998	D	-1.22	0.34795	N	0.109	0.13911	0.703	0.93215	D	0.910	0.97029	D	10	0.003517747	0.00063	T	.	.	.	0.270	0.58507	.	.	0.688640784998	0.68597	0.19134871666215023	0.19052	0.152041658609	0.17156	0.272841215134	0.06514	T	0.018017	0.14600	T	-0.259374	0.12973	T	-0.134961	0.60551	T	0.0108842420833424	0.00155	T	0.771723	0.40231	T	0.030109227	0.02617	0.041255217	0.04647	0.030109227	0.02617	0.041255217	0.04647	-2.96	0.09757	T	.	.	0.077	0.13221	B	.;.;.;.;.;.	.;.;.;.;.;.	0.940276	0.13156	9.660	0.99823293746469866	0.90590	0.03715	0.09002	N	AEFBI	0.032030	0.03539	N	-0.681523254211276	0.16548	0.8441102	-0.672924091218589	0.17640	0.9388232	0.047564392244602	0.14735	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.79	0.992	0.18937	0.460000	0.21635	0.907000	0.22596	0.599000	0.40250	0.015000	0.19116	0.992000	0.31684	0.761000	0.36181	0.0:0.5723:0.0:0.4277	7.584	0.27150	822	0.40702	.;HMG box transcription factor BBX, domain of unknown function DUF2028;HMG box transcription factor BBX, domain of unknown function DUF2028;.;HMG box transcription factor BBX, domain of unknown function DUF2028;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004032	0.000000	0.000000	0.005848	0.000000	0.000000	0.012195	0.011364	0.07143	638.44	37	chr3	107747993	.	C	T	638.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.5;DP=258;ExcessHet=0;FS=2.014;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=0.41;SOR=1.047	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1052	6	0	1	0
chr3	108560717	108560717	G	C	exonic	CIP2A	.	nonsynonymous SNV	CIP2A:NM_020890:exon14:c.C1759G:p.H587D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.00365179683671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34800	T	0.623	0.07368	T	0.003	0.11197	B	0.018	0.18489	B	0.209450	0.03376	N	1.505420	0.984643	0.24782	N	1.1	0.28011	L	3.2	0.08898	T	-0.78	0.21644	N	0.197	0.24010	-0.9510	0.40799	T	0.021	0.08824	T	10	0.122960925	0.23335	T	0.003652	0.08402	T	0.127	0.34888	0.242	0.17524	0.477065420593	0.47334	0.23806721272857817	0.23720	0.206973944305	0.23137	0.224730163813	0.01601	T	0.003415	0.13134	T	-0.20199	0.20518	T	-0.527921	0.19495	T	0.307147085666656	0.25297	T	0.194581	0.02117	T	0.06891671	0.15055	0.07576891	0.16716	0.06891671	0.15055	0.07576891	0.16716	-2.671	0.07062	T	.	.	0.081	0.11124	B	.;.;.	.;.;.	1.099696	0.14838	11.37	0.97004606632996049	0.31957	0.90066	0.50957	D	AEFBI	0.230996	0.35430	N	-0.226149591363309	0.32064	1.804339	-0.00686693426518045	0.39405	2.335817	0.999994809545068	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.608884	0.39905	0	0.727631	0.95156	0	.	.	5.92	5.92	0.95557	3.050000	0.49568	9.874000	0.82149	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.803000	0.37862	0.1093:0.0:0.8907:0.0	11.254	0.48273	797	0.45241	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	211.83	38	chr3	108560717	.	G	C	211.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.512;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.57;ReadPosRankSum=0.447;SOR=0.774	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1075	6	0	1	0
chr3	111991600	111991600	C	G	exonic	ABHD10	.	nonsynonymous SNV	ABHD10:NM_018394:exon5:c.C800G:p.T267R	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0102206752445	7.7e-05	.	1.648e-05	0	0	0	0	1.498e-05	0	6.056e-05	1.29e-05	2	154602	rs373336234	7.525e-06	7.524e-06	5.445e-06	9.626e-06	0.0002	4.04e-06	2.95e-06	3.85e-06	1.68e-06	0	0	0	0	0	0.0002	6.295e-06	1.656e-05	2.319e-05	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.489	0.08018	T	0.439	0.13365	T	0.714	0.42167	P	0.173	0.35463	B	0.842043	0.07005	N	1.070970	1	0.08975	N	0.975	0.24501	L	1.01	0.41058	T	-1.15	0.29525	N	0.067	0.03956	-1.0474	0.15130	T	0.057	0.24092	T	10	0.04930207	0.04501	T	0.010221	0.26500	T	0.054	0.15330	.	.	0.366466682447	0.36252	0.4975583955896555	0.49676	0.173717652591	0.19556	0.265388727188	0.05549	T	0.005308	0.04761	T	-0.372116	0.03488	T	-0.590767	0.13599	T	0.0626631144911207	0.07582	T	0.764624	0.39166	T	0.06198172	0.12897	0.069963835	0.14807	0.06198172	0.12897	0.069963835	0.14807	-8.85	0.66726	D	.	.	0.074	0.05060	B	.	.	0.362184	0.07350	3.966	0.93111307890102302	0.22744	0.13845	0.18083	N	AEFGBI	0.136260	0.25686	N	-0.961836081929662	0.09428	0.4461753	-0.995165581765022	0.09892	0.494908	0.483485473707484	0.20805	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.83	-2.48	0.06052	-0.219000	0.09233	-1.033000	0.06541	-0.306000	0.06133	0.003000	0.16062	0.000000	0.08366	0.957000	0.51019	0.6712:0.2349:0.0939:0.0	14.659	0.68464	585	0.69300	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1421.44	151	chr3	111991600	.	C	G	1421.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.562;DP=362;ExcessHet=0;FS=1.327;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=0.66;SOR=0.859	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr3	114350760	114350760	C	T	exonic	ZBTB20	.	nonsynonymous SNV	ZBTB20:NM_001164342:exon4:c.G1318A:p.E440K,ZBTB20:NM_001164346:exon5:c.G1099A:p.E367K,ZBTB20:NM_001164347:exon5:c.G1099A:p.E367K,ZBTB20:NM_001164345:exon6:c.G1099A:p.E367K,ZBTB20:NM_001164344:exon7:c.G1099A:p.E367K,ZBTB20:NM_001348804:exon9:c.G1099A:p.E367K,ZBTB20:NM_015642:exon9:c.G1099A:p.E367K,ZBTB20:NM_001348802:exon10:c.G1099A:p.E367K,ZBTB20:NM_001348805:exon10:c.G1099A:p.E367K,ZBTB20:NM_001164343:exon11:c.G1099A:p.E367K,ZBTB20:NM_001348800:exon11:c.G1318A:p.E440K,ZBTB20:NM_001348801:exon11:c.G1099A:p.E367K,ZBTB20:NM_001348803:exon13:c.G1318A:p.E440K	Primrose syndrome, Autosomal dominant	427	1046	47	2	0	51	0.0237984	.	.	.	697765	Primrose_syndrome|not_provided|not_specified	MONDO:MONDO:0009798,MedGen:C0796121,OMIM:259050,Orphanet:3042|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.085	.	0.0054	0.00479233	0.0061	0.0013	0.0034	0	0.0005	0.0077	0.0066	0.0099	0.0059249	916	154602	rs138924453	0.0062	0.0062	0.0061	0.0062	0.0192	0.0061	0.0060	0.0163	0.0153	0.0007	0.0052	0.0164	0	0.0009	0.0192	0.0062	0.0075	0.0094	0.0053	0.0053	0.0055	0.0052	0.0108	0.0050	0.0049	0.0094	0.0089	0.0010	0.0033	0.0108	0.0164	0.0002	0.0002	0.0238	0.0071	0.0095	0.0068	0.005	0.65419	D	0.908	0.03074	T	0.0	0.02946	B	0.0	0.01387	B	0.005851	0.32460	N	0.335736	0.999918	0.51042	D	0.805	0.20218	L	2.95	0.09822	T	-0.4	0.13805	N	0.462	0.50056	-1.0342	0.19109	T	0.013	0.04985	T	10	0.0055340827	0.00122	T	.	.	.	0.085	0.24743	.	.	0.273495378476	0.26946	0.35997643831087467	0.35911	1.32069806668	0.83445	0.627004861832	0.56721	T	0.106686	0.41824	T	-0.469568	0.00855	T	-0.440456	0.28757	T	0.0611467036723522	0.07347	T	0.878612	0.59406	D	0.38603228	0.59749	0.32534233	0.58450	0.3285269	0.55350	0.32534233	0.58449	-2.938	0.11102	T	.	.	0.352	0.56715	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.272020	0.44790	22.0	0.99728218537375035	0.82549	0.97136	0.72900	D	AEFBI	0.764290	0.70112	D	0.0161949265100816	0.42593	2.569172	0.22455800224508	0.51212	3.305839	0.999999922502221	0.74766	0.372202	0.05800	0	0.546412	0.12157	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	5.41	5.41	0.78313	7.350000	0.78633	7.709000	0.66702	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.198	0.93686	846	0.36215	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016113	0.010101	0.023098	0.002924	0.000000	0.008621	0.018293	0.007576	0.1429	3058.29	34	chr3	114350760	.	C	T	3058.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.011;DP=378;ExcessHet=0.3476;FS=1.019;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=2.38;SOR=0.769	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1289	5	0	2	0
chr3	119191045	119191045	A	G	exonic	UPK1B	.	nonsynonymous SNV	UPK1B:NM_006952:exon5:c.A409G:p.N137D	.	432	1042	45	3	0	51	0.0238876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.394	.	0.0041	0.0395367	0.0169	0.0012	0.0039	0.1263	0.0011	0.0059	0.0132	0.0296	0.0159894	2472	154602	rs78761311	0.0095	0.0095	0.0089	0.0102	0.1233	0.0094	0.0093	0.1204	0.1192	0.0012	0.0039	0.0189	0.1233	0.0016	0.0206	0.0040	0.0146	0.0320	0.0096	0.0096	0.0087	0.0105	0.1273	0.0092	0.0090	0.1192	0.1160	0.0013	0.0132	0.0056	0.0205	0.1273	0.0008	0.0136	0.0050	0.0132	0.0416	0.551	0.33418	T	0.473	0.13328	T	0.99	0.63424	D	0.86	0.61233	P	0.000054	0.53742	D	0.130780	0.997379	0.43837	D	1.78	0.46185	L	-1.13	0.86815	T	-1.25	0.32791	N	0.484	0.51851	-0.7897	0.55747	T	0.015	0.05946	T	10	0.0016655028	0.00020	T	.	.	.	0.394	0.70924	.	.	.	.	0.8157807269029524	0.81534	0.0496078120372	0.05439	0.483811795712	0.36581	T	0.123975	0.46565	T	-0.3391	0.05451	T	-0.152749	0.59000	T	0.0293694875918715	0.01894	T	0.756624	0.37993	T	0.18363465	0.39641	0.23165466	0.48303	0.18363465	0.39640	0.23165466	0.48302	-3.313	0.13906	T	.	.	0.108	0.26886	B	.;.;.;.;.	.;.;.;.;.	3.760625	0.53956	23.4	0.99692084973768502	0.79977	0.95921	0.66730	D	AEFBI	0.639388	0.61746	D	0.422289372913453	0.62648	4.48438	0.4541350233731	0.64982	4.766575	0.999999992247945	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.55	5.55	0.83298	4.935000	0.63199	11.235000	0.90242	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.525	0.67467	366	0.84579	.;.;.;.;.	.	.	.	.	rs78761311	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025680	0.030303	0.031250	0.017544	0.050000	0.043103	0.018293	0.026515	0.07143	999.44	35	chr3	119191045	.	A	G	999.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.747;DP=267;ExcessHet=0;FS=0.839;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=1.62;SOR=0.823	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1153	6	0	1	0
chr3	119732366	119732366	A	G	exonic	CFAP91	.	nonsynonymous SNV	CFAP91:NM_001320318:exon7:c.A713G:p.Y238C,CFAP91:NM_001320317:exon8:c.A905G:p.Y302C,CFAP91:NM_001320316:exon9:c.A1031G:p.Y344C,CFAP91:NM_033364:exon9:c.A1091G:p.Y364C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.0354291174451	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1338679831	7.535e-06	7.525e-06	5.454e-06	9.638e-06	9.907e-06	4.04e-06	2.96e-06	5.32e-06	3.89e-06	0	0	0	0	0	0	9.907e-06	0	0	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.007	0.69154	D	.	.	.	.	.	.	0.005504	0.32736	N	0.307106	0.999754	0.48800	D	.	.	.	1.56	0.29602	T	-7.85	0.96058	D	0.881	0.87917	-0.6091	0.64441	T	0.217	0.57902	T	10	0.6408098	0.69046	D	0.035429	0.56337	D	0.253	0.56294	0.519	0.62066	0.605306593731	0.60214	0.6196650840351213	0.61899	0.674296566844	0.59635	0.581378996372	0.50279	T	.	.	.	-0.0731135	0.40829	T	-0.342799	0.40027	T	0.995712280273438	0.87934	D	0.90161	0.65783	D	0.592074	0.72263	0.5721988	0.75224	0.592074	0.72264	0.5721988	0.75224	-9.675	0.71944	D	0.7110631924778165	0.79130	0.176	0.39116	B	.;.	.;.	4.523653	0.70949	25.6	0.99829925008199827	0.91198	0.87235	0.46713	D	AEBCI	0.783528	0.71448	D	0.763154057315257	0.83758	8.102228	0.717607531008588	0.83715	8.095359	0.999995172073679	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.656636	0.63459	0	.	.	5.66	5.66	0.87293	4.243000	0.58516	11.144000	0.87156	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.988000	0.63387	0.8615:0.0:0.0:0.1385	11.053	0.47116	630	0.65016	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	345.44	34	chr3	119732366	.	A	G	345.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.24;DP=229;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.77;ReadPosRankSum=1.01;SOR=0.706	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1022	6	0	1	0
chr3	119866608	119866608	A	T	exonic	GSK3B	.	nonsynonymous SNV	GSK3B:NM_002093:exon9:c.T930A:p.H310Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.0251810024445	0.0002	.	0.0002	0	8.651e-05	0	0	0.0003	0	0.0002	0.000194	30	154602	rs34009575	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0.0002	9.085e-05	0	0	0.0001	0	0.0004	8.326e-05	0.0001	0.0002	0.0002	0.0003	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	0.0002	0	6.548e-05	0	0	0	0	0.0003	0	0	0.308	0.14111	T	0.368	0.16570	T	0.29	0.32311	B	0.092	0.30031	B	0.084092	0.20716	N	0.346048	0.644862	0.81001	D	.	.	.	0.32	0.58468	T	-0.2	0.10136	N	0.458	0.49511	-0.7997	0.55162	T	0.130	0.44069	T	9	0.2024383	0.36363	T	0.025181	0.48158	D	0.083	0.24192	0.414	0.45216	0.787797334156	0.78583	0.06801153120324992	0.06739	0.804511610767	0.66400	0.809181451797	0.83367	D	.	.	.	-0.297637	0.08884	T	-0.371824	0.36675	T	0.106899030506611	0.13099	T	0.718628	0.33152	T	.	.	.	.	.	.	.	.	-3.371	0.14669	T	.	.	0.101	0.17615	B	.	.	3.345945	0.46131	22.2	0.9363880845653062	0.23516	0.92637	0.56182	D	AEFBI	0.535147	0.55390	D	0.0350529545015221	0.43456	2.638129	0.15035119897614	0.47159	2.950485	0.732124897314355	0.23065	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.37	4.37	0.51830	5.531000	0.66860	9.150000	0.78945	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	12.368	0.54567	642	0.63909	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	936.83	35	chr3	119866608	.	A	T	936.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.064;DP=264;ExcessHet=0;FS=2.698;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=0.951;SOR=1.005	GT:AD:DP:GQ:PL	0/1:52,42:94:99:947,0,1306	6	0	1	0
chr3	120181226	120181226	T	G	exonic	GPR156	.	nonsynonymous SNV	GPR156:NM_001168271:exon8:c.A820C:p.T274P,GPR156:NM_153002:exon8:c.A832C:p.T278P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.691	0.107868613729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.072	0.43531	T	0.984	0.60733	D	0.899	0.63802	P	0.023440	0.26444	N	0.353536	0.98279	0.39935	D	1.24	0.30952	L	-1.88	0.84487	D	-2.87	0.60348	D	0.715	0.72120	-0.0581	0.81034	T	0.581	0.84907	D	9	0.8496872	0.84142	D	0.107869	0.78414	D	0.691	0.88773	0.748	0.87905	0.512424132817	0.50885	0.8665117443650924	0.86616	1.00069180223	0.74397	0.513661623001	0.40734	T	0.526503	0.83536	D	0.211336	0.74954	D	0.0657928	0.74629	D	0.899183564937913	0.55144	D	0.573543	0.20534	T	0.5423993	0.69530	0.6012671	0.76834	0.5423993	0.69532	0.6012671	0.76835	-8.387	0.63679	D	.	.	0.181	0.42578	B	.;.;.	.;.;.	3.330991	0.45857	22.2	0.99606678971749019	0.74575	0.80657	0.40238	D	AEFDGBHI	0.415739	0.48448	N	0.33245233370296	0.57821	3.951085	0.301900963199653	0.55650	3.727988	0.999946867948577	0.47345	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	6.08	2.42	0.28720	2.026000	0.40689	2.280000	0.31891	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1262:0.1479:0.1471:0.5789	2.034	0.03320	783	0.47268	GPCR family 3, C-terminal|GPCR family 3, C-terminal;GPCR family 3, C-terminal|GPCR family 3, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	188.44	33	chr3	120181226	.	T	G	188.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.023;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.13;ReadPosRankSum=1.18;SOR=0.368	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1187	6	0	1	0
chr3	120638530	120638530	C	T	exonic	HGD	.	nonsynonymous SNV	HGD:NM_000187:exon12:c.G931A:p.A311T	Alkaptonuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1900113	Alkaptonuria	MONDO:MONDO:0008753,MedGen:C0002066,OMIM:203500,Orphanet:56	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.946	0.412540676485	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1317676622	1.368e-06	1.368e-06	0	2.75e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.004	0.74150	D	0.998	0.73220	D	0.964	0.71005	D	0.000001	0.62929	D	0.057010	1	0.81001	D	3.725	0.94815	H	-5.7	0.99284	D	-3.92	0.73151	D	0.953	0.96187	0.442	0.89711	D	0.611	0.86221	D	10	0.9610002	0.95510	D	0.412541	0.93628	D	0.946	0.98921	.	.	0.944821078682	0.94424	0.8151567888734889	0.81471	0.464945279326	0.45949	0.76384973526	0.76503	T	0.98409	0.99891	D	0.406353	0.90277	D	0.345921	0.90155	D	0.994951009750366	0.86582	D	0.968603	0.88631	D	0.911101	0.92398	0.8353289	0.90532	0.911101	0.92399	0.8353289	0.90532	-8.621	0.65228	D	0.8746325584799576	0.93428	0.883	0.81666	P	.	.	5.014227	0.83284	28.0	0.99920462999302007	0.98721	0.94906	0.62741	D	AEFDBCI	0.927685	0.91074	D	0.682782856956871	0.78506	6.885091	0.687399988905092	0.81421	7.522783	0.999999999964402	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.35	5.35	0.76297	7.359000	0.78737	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	16.391	0.83370	311	0.87433	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr3	120638530	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1180	6	1	0	0
chr3	120776506	120776506	C	T	exonic	GTF2E1	.	nonsynonymous SNV	GTF2E1:NM_005513:exon4:c.C734T:p.S245F	.	428	1086	8	0	0	8	0.00366972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	.	0.0072	0.00219649	0.0067	0.0013	0.0022	0	0.0098	0.0101	0.0055	0.0019	0.006921	1070	154602	rs116139067	0.0100	0.0100	0.0102	0.0098	0.0118	0.0099	0.0098	0.0116	0.0115	0.0016	0.0027	0.0008	0	0.0119	0.0010	0.0118	0.0090	0.0019	0.0075	0.0075	0.0083	0.0066	0.0110	0.0071	0.0070	0.0103	0.0101	0.0024	0.1184	0.0033	0.0006	0	0.0102	0.0034	0.0110	0.0047	0.0019	0.012	0.54683	D	0.008	0.67890	D	0.736	0.42845	P	0.429	0.45365	B	0.000033	0.55875	D	0.164694	1	0.81001	D	2.085	0.57729	M	0.79	0.49068	T	-2.19	0.52128	N	0.55	0.57604	-0.8166	0.54146	T	0.149	0.47522	T	10	0.005297661	0.00116	T	.	.	.	0.113	0.31778	.	.	0.216943180021	0.21308	0.44651597372519675	0.44569	0.76196104071	0.64307	0.561044573784	0.47416	T	0.078052	0.35799	T	-0.417127	0.01785	T	-0.359626	0.38096	T	0.033851293804235	0.02613	T	0.915408	0.69775	D	0.34187558	0.56428	0.31699908	0.57677	0.34187558	0.56428	0.31699908	0.57676	-6.626	0.51251	T	.	.	0.219	0.45099	B	.;.	.;.	4.407686	0.68162	25.2	0.99680761616959124	0.79241	0.99386	0.95357	D	AEFBI	0.849572	0.76639	D	0.526325190968093	0.68652	5.246726	0.578485578349535	0.73400	5.964247	0.999999999998566	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.38	5.38	0.77279	7.456000	0.79796	5.939000	0.51448	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	18.105	0.89446	317	0.87119	.;.	.	.	.	.	rs116139067	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.050000	0.008621	0.000000	0.000000	0.07143	720.44	49	chr3	120776506	.	C	T	720.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.888;DP=227;ExcessHet=0;FS=1.142;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=-0.79;SOR=0.941	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1170	6	0	1	0
chr3	121233639	121233639	G	A	exonic	STXBP5L	.	nonsynonymous SNV	STXBP5L:NM_001308330:exon12:c.G1135A:p.V379M,STXBP5L:NM_001348343:exon12:c.G1135A:p.V379M,STXBP5L:NM_001348344:exon12:c.G1135A:p.V379M,STXBP5L:NM_001348345:exon12:c.G1135A:p.V379M,STXBP5L:NM_014980:exon12:c.G1135A:p.V379M	.	487	1026	7	2	0	11	0.00533204	.	.	.	622325	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.237	0.0206573945077	0.0063	0.00339457	0.0057	0.0015	0.0012	0.0001	0.0017	0.0092	0.0011	0.0022	0.0057438	888	154602	rs61996323	0.0078	0.0079	0.0080	0.0077	0.0093	0.0077	0.0077	0.0092	0.0091	0.0018	0.0021	0.0051	2.529e-05	0.0029	0.0077	0.0093	0.0065	0.0023	0.0054	0.0054	0.0056	0.0053	0.0092	0.0051	0.0050	0.0086	0.0084	0.0017	0	0.0039	0.0049	0	0.0025	0.0136	0.0092	0.0071	0.0017	0.022	0.48642	D	0.012	0.65728	D	0.962	0.59675	D	0.713	0.54860	P	0.000190	0.48115	D	0.138974	0.99901	0.45878	D	2.405	0.69568	M	1.43	0.50192	T	-2.27	0.52289	N	0.646	0.65758	-0.8568	0.51491	T	0.150	0.47699	T	10	0.010139585	0.00227	T	0.020657	0.43298	T	0.237	0.54074	.	.	0.321697908245	0.31786	0.5965482819491511	0.59584	0.618235351031	0.56224	0.521119534969	0.41783	T	0.057566	0.30601	T	-0.346112	0.04975	T	-0.260547	0.48770	T	0.0327383321700659	0.02429	T	0.966703	0.87848	D	0.14155143	0.32612	0.19203654	0.42695	0.14155143	0.32611	0.19203654	0.42694	-9.446	0.70523	D	.	.	0.376	0.61260	A	.;.;.;.;.;.	.;.;.;.;.;.	4.892045	0.80333	27.3	0.99630955753262607	0.76020	0.98847	0.87641	D	AEFI	0.844599	0.76155	D	0.500994704409624	0.67147	5.043283	0.455697244047954	0.65083	4.779137	0.998650680048234	0.37392	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.4	4.4	0.52402	9.449000	0.96765	9.910000	0.82419	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:1.0:0.0	17.167	0.86698	292	0.88363	Lethal giant larvae homologue 2;Lethal giant larvae homologue 2;Lethal giant larvae homologue 2;Lethal giant larvae homologue 2;Lethal giant larvae homologue 2;Lethal giant larvae homologue 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007560	0.000000	0.008152	0.014706	0.000000	0.008621	0.009146	0.003788	0.07143	879.45	25	chr3	121233639	.	G	A	879.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.11;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=-0.821;SOR=0.741	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1023	6	0	1	0
chr3	121489129	121489129	C	T	exonic	POLQ	.	nonsynonymous SNV	POLQ:NM_199420:exon16:c.G3802A:p.V1268I	.	424	1084	14	0	0	14	0.00641613	.	.	.	1037307	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.010	0.00400772453223	7.7e-05	0.000199681	0.0008	9.625e-05	8.637e-05	0	0	0.0004	0.0011	0.0040	0.0006209	96	154602	rs142531238	0.0005	0.0005	0.0004	0.0006	0.0047	0.0005	0.0005	0.0033	0.0030	8.962e-05	0.0003	0.0006	0	1.874e-05	0.0047	0.0003	0.0010	0.0035	0.0005	0.0005	0.0003	0.0006	0.0025	0.0004	0.0003	0.0014	0.0011	9.626e-05	0	0.0014	0	0	0	0.0034	0.0004	0.0009	0.0025	0.626	0.05214	T	0.309	0.21277	T	0.0	0.02946	B	0.001	0.04355	B	0.287980	0.14822	N	0.647462	1	0.08975	N	0.895	0.22405	L	0.88	0.46028	T	-0.2	0.10136	N	0.024	0.00445	-1.0559	0.12803	T	0.049	0.20947	T	10	0.0063426793	0.00143	T	0.004008	0.09525	T	0.010	0.01040	.	.	0.213573922156	0.20996	0.01741591055195325	0.01696	0.0589115962734	0.06543	0.276254832745	0.06975	T	0.017892	0.14518	T	-0.715732	0.00029	T	-0.802665	0.01836	T	0.00604888178461951	0.00067	T	0.39776	0.10046	T	0.029463131	0.02445	0.020646095	0.00147	0.029463131	0.02445	0.020646095	0.00147	-3.331	0.14139	T	0.07893790001760942	0.03840	0.072	0.04119	B	.;.	.;.	-1.436216	0.00335	0.006	0.28299652797770708	0.01446	0.02015	0.06057	N	AEFBCI	0.021177	0.00915	N	-1.33998192557775	0.03229	0.1439212	-1.37518491506718	0.03518	0.1642831	0.00463882998324061	0.10650	0.615465	0.37627	0	0.653731	0.59785	0	0.670488	0.60580	0	0.655142	0.61905	0	.	.	4.86	-2.47	0.06070	-0.947000	0.04011	-0.307000	0.10069	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.1317:0.297:0.0:0.5713	4.932	0.13273	274	0.89249	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	833.45	33	chr3	121489129	.	C	T	833.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.115;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=0.199;SOR=0.779	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1124	6	0	1	0
chr3	121489780	121489780	A	T	exonic	POLQ	.	nonsynonymous SNV	POLQ:NM_199420:exon16:c.T3151A:p.S1051T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0174048923795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.18823	T	0.517	0.10572	T	0.134	0.27266	B	0.03	0.21741	B	0.973722	0.07795	N	1.012730	1	0.08975	N	2.05	0.56469	M	0.76	0.49919	T	-0.96	0.25551	N	0.083	0.07398	-0.9849	0.33856	T	0.149	0.47505	T	10	0.09500292	0.16936	T	0.017405	0.39097	T	0.054	0.15330	0.186	0.09517	0.406257615169	0.40241	0.007497116414238556	0.00715	0.0966979762415	0.10917	0.284970551729	0.08194	T	0.01401	0.12011	T	-0.28998	0.09637	T	-0.654312	0.08654	T	0.0704844199566734	0.08718	T	0.507449	0.16094	T	0.059675753	0.12155	0.047409493	0.06822	0.059675753	0.12155	0.047409493	0.06822	-4.147	0.25980	T	0.4539303996026755	0.53726	0.091	0.13174	B	.;.	.;.	-0.456603	0.02009	0.179	0.81487839745732538	0.13710	0.02502	0.06989	N	AEFBI	0.038847	0.05558	N	-0.844715364542801	0.12179	0.5921473	-0.929295403044195	0.11405	0.5807992	0.00319847003463697	0.09983	0.615465	0.37627	0	0.546412	0.12157	0	0.608884	0.39905	0	0.655142	0.61905	0	.	.	4.87	2.41	0.28644	0.229000	0.17614	1.619000	0.27677	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.4953:0.0:0.0:0.5047	8.404	0.31762	274	0.89249	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	35	chr3	121489780	.	A	T	33.22	.	AC=2;AF=0.143;AN=14;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1124	6	1	0	0
chr3	121623210	121623210	C	G	exonic	FBXO40	.	nonsynonymous SNV	FBXO40:NM_016298:exon3:c.C1781G:p.A594G	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0101549590349	0.0017	0.00179712	0.0025	0.0002	0.0020	0	0.0017	0.0026	0.0033	0.0053	0.0022962	355	154602	rs34348750	0.0021	0.0021	0.0019	0.0023	0.0055	0.0020	0.0020	0.0051	0.0049	0.0002	0.0019	0.0021	0	0.0009	0.0033	0.0020	0.0022	0.0055	0.0019	0.0019	0.0020	0.0019	0.0037	0.0017	0.0017	0.0025	0.0024	0.0003	0	0.0024	0.0032	0	0.0013	0.0068	0.0029	0.0014	0.0037	0.158	0.23905	T	0.392	0.15406	T	0.073	0.24078	B	0.053	0.25678	B	0.000510	0.43753	D	0.271338	0.998003	0.22400	N	0.69	0.16971	N	0.44	0.56609	T	-1.32	0.32991	N	0.189	0.20660	-1.0455	0.15680	T	0.083	0.32499	T	10	0.011829704	0.00257	T	0.010155	0.26346	T	0.068	0.19811	.	.	0.533614126537	0.53011	0.17950616409404924	0.17869	0.109903713924	0.12392	0.356257736683	0.18839	T	0.046364	0.27401	T	-0.459409	0.00991	T	-0.430351	0.29896	T	0.0119365933780143	0.00187	T	0.805019	0.45286	T	0.15081854	0.34315	0.16834821	0.38787	0.15081854	0.34315	0.16834821	0.38786	-3.499	0.16417	T	.	.	0.115	0.22933	B	.	.	3.233007	0.44098	21.9	0.98749621159737777	0.45633	0.90573	0.51861	D	AEFBI	0.394309	0.47161	N	-0.233426551555821	0.31770	1.784788	0.00521576341590405	0.39957	2.377074	0.0451503442785444	0.14640	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.16	5.28	0.74118	3.229000	0.50979	5.060000	0.47078	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.7036:0.2963:0.0	13.646	0.61759	354	0.85282	F-box domain|F-box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.010101	0.005435	0.005848	0.000000	0.017241	0.006098	0.000000	0.07143	1185.63	37	chr3	121623210	.	C	G	1185.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.449;DP=263;ExcessHet=0;FS=4.41;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=0.358;SOR=1.23	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr3	121669213	121669213	G	A	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon17:c.C9080T:p.A3027V,GOLGB1:NM_001366283:exon17:c.C9197T:p.A3066V,GOLGB1:NM_001366284:exon17:c.C9080T:p.A3027V,GOLGB1:NM_001256486:exon18:c.C9320T:p.A3107V,GOLGB1:NM_001256487:exon18:c.C9203T:p.A3068V,GOLGB1:NM_001366282:exon18:c.C9320T:p.A3107V,GOLGB1:NM_004487:exon18:c.C9305T:p.A3102V	.	434	1085	3	0	0	3	0.00138058	.	.	.	2725011	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.0052331930876	0.0007	0.000199681	0.0007	9.61e-05	0.0008	0	0.0003	0.0008	0.0033	0.0007	0.0006274	97	154602	rs150865762	0.0009	0.0009	0.0009	0.0009	0.0011	0.0008	0.0008	0.0010	0.0009	8.975e-05	0.0003	3.83e-05	0	0.0001	0.0011	0.0010	0.0013	0.0008	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0006	0.0005	7.231e-05	0	0.0001	0.0003	0	0.0006	0	0.0007	0.0005	0.0004	0.086	0.32610	T	0.016	0.61642	D	0.891	0.49025	P	0.087	0.29615	B	0.968335	0.07762	N	1.014780	0.999998	0.08975	N	2.19	0.61577	M	2.41	0.16640	T	-0.62	0.18248	N	0.06	0.06322	-1.0269	0.21462	T	0.051	0.21533	T	10	0.010924935	0.00241	T	0.005233	0.13341	T	0.081	0.23632	.	.	0.298403945805	0.29456	0.04784555884000848	0.04727	0.104594457088	0.11836	0.288228034973	0.08665	T	0.014687	0.12455	T	-0.592018	0.00163	T	-0.691992	0.06275	T	0.0236012703275253	0.01096	T	0.653935	0.26999	T	0.0190208	0.00427	0.033071	0.02143	0.0190208	0.00427	0.033071	0.02143	-4.826	0.34893	T	.	.	0.076	0.06159	B	.;.;.	.;.;.	1.802672	0.22914	15.81	0.98957869671242726	0.49266	0.09378	0.15146	N	AEFDBI	0.060576	0.11522	N	-0.72055636124145	0.15444	0.7784042	-0.785859262406749	0.14842	0.7775945	0.0443393732372693	0.14607	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.63	0.6	0.16703	0.812000	0.26869	-0.502000	0.08796	-0.272000	0.06708	0.028000	0.20300	0.000000	0.08366	0.912000	0.44740	0.2312:0.1355:0.4939:0.1394	1.927	0.03118	391	0.83213	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	507.27	35	chr3	121669213	.	G	A	507.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.34;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=0.586;SOR=0.627	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1194	5	0	1	1
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N,GOLGB1:NM_001366283:exon12:c.G2792A:p.S931N,GOLGB1:NM_001366284:exon12:c.G2675A:p.S892N,GOLGB1:NM_001256486:exon13:c.G2915A:p.S972N,GOLGB1:NM_001256487:exon13:c.G2798A:p.S933N,GOLGB1:NM_001366282:exon13:c.G2915A:p.S972N,GOLGB1:NM_004487:exon13:c.G2900A:p.S967N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	131.31	80	chr3	121697608	.	C	T	131.31	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.544;DP=478;ExcessHet=2.5225;FS=222.92;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.41;ReadPosRankSum=-0.07;SOR=10.1	GT:AD:DP:GQ:PL	0/1:64,28:104:58:58,0,1033	2	0	4	1
chr3	121717027	121717027	A	G	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon8:c.T758C:p.V253A,GOLGB1:NM_001366283:exon8:c.T875C:p.V292A,GOLGB1:NM_001366284:exon8:c.T758C:p.V253A,GOLGB1:NM_001256486:exon9:c.T998C:p.V333A,GOLGB1:NM_001256487:exon9:c.T881C:p.V294A,GOLGB1:NM_001366282:exon9:c.T998C:p.V333A,GOLGB1:NM_004487:exon9:c.T983C:p.V328A	.	438	1079	5	0	0	5	0.0023116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0202556276421	0.0015	.	0.0009	0.0008	0.0007	0	0	0.0013	0	0.0002	0.0008926	138	154602	rs140932474	0.0016	0.0016	0.0016	0.0016	0.0019	0.0015	0.0015	0.0019	0.0018	0.0001	0.0008	0.0020	0	0.0001	0.0005	0.0019	0.0012	0.0002	0.0011	0.0011	0.0013	0.0010	0.0018	0.0010	0.0009	0.0016	0.0015	0.0005	0	0.0009	0.0026	0	0	0	0.0018	0.0005	0.0004	0.006	0.65419	D	0.148	0.49120	T	0.835	0.46254	P	0.352	0.45529	B	0.024854	0.26190	N	0.326081	0.676595	0.30316	N	2.42	0.70002	M	2.46	0.24656	T	-1.33	0.33197	N	0.334	0.52829	-0.7425	0.58324	T	0.182	0.52980	T	10	0.011101335	0.00244	T	0.020256	0.42817	T	0.074	0.21613	.	.	0.303453137403	0.29957	0.062432279216647374	0.06183	0.222033821018	0.24739	0.352981030941	0.18360	T	0.016641	0.13717	T	-0.481397	0.00726	T	-0.488898	0.23506	T	0.0475664479242931	0.05065	T	0.80032	0.44782	T	0.067554064	0.14640	0.08843764	0.20621	0.067554064	0.14640	0.08843764	0.20620	-2.648	0.07768	T	.	.	0.176	0.38516	B	.;.;.;.	.;.;.;.	2.619759	0.34042	19.52	0.94100077710651098	0.24262	0.57008	0.30264	D	AEFBI	0.163232	0.28949	N	0.0289415856601971	0.43173	2.615602	0.00553740433537137	0.39973	2.378194	0.657611372545038	0.22235	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.77	4.54	0.55220	2.428000	0.44406	4.959000	0.46330	0.756000	0.94297	0.044000	0.21163	0.975000	0.29991	0.991000	0.66497	0.8312:0.0:0.0:0.1688	8.714	0.33564	436	0.80373	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	990.49	38	chr3	121717027	.	A	G	990.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.985;DP=281;ExcessHet=0;FS=4.468;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=0.712;SOR=0.716	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1273	6	0	1	0
chr3	122615777	122615777	A	G	exonic;splicing	PARP15;PARP15	NM_001113523:exon5:c.772-2A>G	nonsynonymous SNV	PARP15:NM_001308321:exon1:c.A68G:p.Q23R,PARP15:NM_152615:exon1:c.A68G:p.Q23R	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.0210466356175	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs761455832	2.397e-05	2.531e-05	2.59e-05	2.203e-05	0.0052	1.741e-05	1.541e-05	0.0037	0.0033	0.0001	0	0	0	0	0.0052	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.035	0.54159	D	0.617	0.65571	P	0.242	0.71741	B	.	.	.	.	1	0.81001	D	.	.	.	2.73	0.14657	T	-2.24	0.52289	N	0.51	0.54147	-1.0897	0.05582	T	0.086	0.33298	T	8	0.23577628	0.40646	T	0.021047	0.43757	T	0.126	0.34673	0.589	0.71749	0.414798848334	0.41096	.	.	.	.	.	.	.	.	.	.	0.0798575	0.62024	D	0.0584613	0.74143	D	0.599932968616486	0.36397	D	0.234977	0.03247	T	.	.	.	.	.	.	.	.	-3.895	0.22227	T	.	.	0.098	0.16451	B	.;.	.;.	3.493073	0.48838	22.7	0.98941052287110309	0.48940	0.85358	0.44483	D	AEFBI	0.303287	0.41130	N	0.598014656095349	0.73050	5.903278	0.421025263318618	0.62878	4.51077	0.999342932065353	0.39222	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.27	4.27	0.50009	3.101000	0.49974	4.945000	0.46240	0.751000	0.87719	0.847000	0.30396	0.996000	0.32793	0.953000	0.50222	1.0:0.0:0.0:0.0	10.880	0.46137	505	0.75648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.011696	0.000000	0.000000	0.000000	0.000000	0.07143	371.49	33	chr3	122615777	.	A	G	371.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.624;DP=228;ExcessHet=0;FS=1.165;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.28;ReadPosRankSum=1.3;SOR=0.42	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1094	6	0	1	0
chr3	123448307	123448309	TCG	-	exonic	ADCY5	.	nonframeshift deletion	ADCY5:NM_001378259:exon1:c.237_239del:p.D80del,ADCY5:NM_183357:exon1:c.237_239del:p.D80del	Dyskinesia, familial, with facial myokymia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	906376	Dyskinesia_with_orofacial_involvement,_autosomal_dominant|not_provided	MONDO:MONDO:0800028,MedGen:C5551343,OMIM:606703,Orphanet:324588|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0074	.	0.0009	0.0014	0.0014	0.0009	0.0006	0.0006	0	0.0014	3.84e-05	1	26028	rs754577305	0.0001	0.0010	9.899e-05	0.0001	0.0005	9.118e-05	8.578e-05	0.0003	0.0003	0.0001	0.0005	8.186e-05	0.0002	0.0001	0.0002	7.19e-05	0.0001	0.0003	1.319e-05	3.943e-05	1.289e-05	1.351e-05	2.947e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.947e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	74.18	37	chr3	123448306	.	ATCG	A	74.18	.	AC=2;AF=0.143;AN=14;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=26.7;SOR=0.693	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,995	6	1	0	0
chr3	123976934	123976934	C	T	exonic	ROPN1	.	nonsynonymous SNV	ROPN1:NM_001317774:exon3:c.G164A:p.R55Q,ROPN1:NM_017578:exon4:c.G164A:p.R55Q	.	436	1072	14	0	0	14	0.00648749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	.	0.0030	0.00419329	0.0034	0.0007	0.0012	0.0001	0.0011	0.0026	0.0011	0.0125	0.0032341	500	154602	rs149212157	0.0037	0.0037	0.0034	0.0040	0.0135	0.0036	0.0036	0.0128	0.0126	0.0006	0.0009	0.0003	0	0.0010	0.0036	0.0035	0.0035	0.0135	0.0021	0.0021	0.0021	0.0021	0.0133	0.0019	0.0018	0.0107	0.0097	0.0008	0	0.0012	0	0	0.0007	0	0.0028	0.0014	0.0133	0.051	0.39334	T	0.03	0.54159	D	0.001	0.07471	B	0.001	0.04355	B	0.122323	0.18960	N	0.509628	0.99912	0.21598	N	1.905	0.50856	L	1.6	0.37230	T	-2.86	0.68298	D	0.374	0.41557	-1.0625	0.11142	T	0.065	0.26913	T	10	0.0067691505	0.00154	T	.	.	.	0.123	0.34020	.	.	0.386395597597	0.38251	0.3772552444437112	0.37640	0.296466657935	0.32036	0.264913350344	0.05490	T	0.302873	0.67525	T	-0.566735	0.00231	T	-0.575821	0.14920	T	0.0120000737262563	0.00189	T	0.541746	0.18406	T	0.07111831	0.15721	0.1290431	0.31036	0.07111831	0.15721	0.1290431	0.31035	-8.265	0.62861	D	.	.	0.063	0.01622	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.204952	0.03064	0.477	0.94000249010768899	0.24094	0.42956	0.26992	N	AEFDBCI	0.077236	0.15556	N	-1.14640483811696	0.05839	0.2672506	-1.12990076809771	0.07134	0.3458745	0.998613099805109	0.37309	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.37	0.44	0.15785	0.245000	0.17917	-4.080000	0.02354	-5.768000	0.00007	0.936000	0.32490	0.000000	0.08366	0.002000	0.04165	0.0:0.5792:0.3041:0.1167	7.250	0.25321	752	0.51611	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	139.44	35	chr3	123976934	.	C	T	139.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.712;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=48.85;MQRankSum=-2.655;QD=15.49;ReadPosRankSum=-0.464;SOR=0.368	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	6	0	1	0
chr3	124927846	124927846	G	A	exonic	MUC13	.	nonsynonymous SNV	MUC13:NM_033049:exon2:c.C200T:p.T67I	.	423	1076	22	1	0	24	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	0.0035	0.00319489	0.0046	0.0011	0.0091	0.0001	0.0002	0.0038	0.0022	0.0122	0.0041785	646	154602	rs148289912	0.0039	0.0039	0.0035	0.0044	0.0212	0.0038	0.0038	0.0181	0.0170	0.0009	0.0064	0.0112	2.519e-05	0.0002	0.0212	0.0033	0.0053	0.0122	0.0033	0.0033	0.0031	0.0035	0.0102	0.0031	0.0030	0.0079	0.0071	0.0006	0	0.0081	0.0115	0	0.0002	0.0102	0.0036	0.0057	0.0102	.	.	.	0.011	0.64786	D	.	.	.	.	.	.	0.512347	0.05154	N	1.350630	1	0.08975	N	0.695	0.17993	N	.	.	.	.	.	.	0.03	0.00717	-0.9646	0.38290	T	0.019	0.08033	T	10	0.004339576	0.00088	T	.	.	.	.	.	.	.	0.0920862733494	0.08535	0.3494307040581834	0.34857	.	.	0.212011367083	0.00899	T	0.008027	0.07391	T	-0.688887	0.00042	T	-0.748035	0.03563	T	0.000759447099649679	0.00007	T	0.282772	0.04965	T	0.027561285	0.01966	0.036250144	0.03033	0.027561285	0.01966	0.036250144	0.03033	-5.1	0.37908	T	.	.	0.095	0.14933	B	.	.	-0.101762	0.03631	0.720	0.83691209667447475	0.14866	0.06399	0.12402	N	AEFGBHI	0.105390	0.21059	N	-1.29406102327893	0.03746	0.1678968	-1.39030971903455	0.03354	0.1563009	0.990034487655043	0.32016	0.495158	0.18159	0	0.616935	0.53198	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.41	-3.5	0.04411	-0.321000	0.08060	0.368000	0.17646	-0.127000	0.13314	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5951:0.0:0.4049:0.0	7.609	0.27286	878	0.29785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018127	0.015152	0.017663	0.032164	0.000000	0.034483	0.015244	0.011364	0.07143	1531.44	43	chr3	124927846	.	G	A	1531.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.222;DP=383;ExcessHet=0;FS=6.677;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=-0.276;SOR=1.168	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	6	0	1	0
chr3	126500141	126500141	C	T	exonic	UROC1	.	nonsynonymous SNV	UROC1:NM_144639:exon12:c.G1159A:p.V387I,UROC1:NM_001165974:exon13:c.G1339A:p.V447I	.	1	1518	3	0	0	3	0.000987167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00888605571145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	0.15098	T	0.213	0.26467	T	0.005	0.12996	B	0.029	0.21540	B	0.000066	0.52346	N	0.126462	0.998832	0.45528	D	1.905	0.50856	L	0.68	0.51952	T	-0.44	0.14588	N	0.227	0.28616	-1.0314	0.20002	T	0.117	0.41341	T	10	0.15707567	0.29568	T	0.008886	0.23439	T	0.049	0.13647	0.707	0.84327	0.353125101423	0.34923	0.5994172153299265	0.59872	0.0717050410812	0.08036	0.267366439104	0.05800	T	0.046134	0.27331	T	-0.220422	0.17935	T	-0.554397	0.16906	T	0.509000718593597	0.32960	D	0.916908	0.70254	D	0.07786532	0.17698	0.06457874	0.12964	0.07786532	0.17698	0.06457874	0.12964	-4.754	0.34050	T	0.1127171399866244	0.09784	0.110	0.21353	B	.;.	.;.	2.044846	0.25992	16.96	0.97894051221470924	0.36690	0.68291	0.33747	D	AEFDBI	0.186863	0.31416	N	-0.290815263668269	0.29502	1.636614	-0.204427355220832	0.31376	1.775137	0.998994931790861	0.38161	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.68	2.85	0.32333	2.205000	0.42407	0.186000	0.15687	0.547000	0.25779	0.961000	0.33663	0.007000	0.19602	0.997000	0.79791	0.0:0.8215:0.0:0.1785	9.355	0.37322	844	0.36711	Urocanase, Rossmann-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	69.44	33	chr3	126500141	.	C	T	69.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.319;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.36;ReadPosRankSum=-0.319;SOR=0.916	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,107,1356	6	0	1	0
chr3	126501908	126501908	C	T	exonic	UROC1	.	nonsynonymous SNV	UROC1:NM_001165974:exon10:c.G943A:p.G315S	.	0	1517	5	0	0	5	0.00164528	.	.	.	1195935	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.106	0.00451678842094	0.0003	.	0.0004	0	0	0.0001	0.0005	0.0005	0	0.0001	0.0003234	50	154602	rs372066284	0.0004	0.0004	0.0004	0.0004	0.0010	0.0004	0.0004	0.0005	0.0004	8.965e-05	0.0001	0	7.559e-05	0.0003	0.0010	0.0005	0.0004	0.0002	0.0003	0.0003	0.0004	0.0002	0.0005	0.0002	0.0002	0.0003	0.0003	7.236e-05	0	0.0001	0.0006	0	0.0003	0	0.0005	0.0005	0.0004	0.416	0.09958	T	0.327	0.18732	T	.	.	.	.	.	.	0.092877	0.02472	N	2.763760	1	0.08975	N	.	.	.	0.49	0.55775	T	-0.58	0.17417	N	0.236	0.26596	-1.0176	0.24495	T	0.065	0.26737	T	10	0.031617284	0.01298	T	0.004517	0.11125	T	0.106	0.30130	.	.	0.0954503805726	0.09146	0.4058033700640791	0.40496	0.0678248329266	0.07588	0.270429730415	0.06197	T	.	.	.	-0.52997	0.00384	T	-0.584482	0.14147	T	0.00504998033805112	0.00054	T	0.480052	0.14488	T	.	.	.	.	.	.	.	.	-3.628	0.18263	T	.	.	0.098	0.16187	B	.	.	0.230237	0.06116	2.561	0.43781204047080191	0.03320	0.01363	0.04662	N	ALL	0.034513	0.04287	N	-1.43208748339378	0.02361	0.104189	-1.48455702042879	0.02471	0.1136847	0.999887840856574	0.44867	0.487112	0.14033	0	0.573888	0.26702	0	0.607795	0.38427	0	0.613276	0.41899	0	.	.	1.03	0.093	0.13783	-0.511000	0.06404	-3.406000	0.02811	-0.468000	0.05098	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.699:0.0:0.301	3.331	0.06668	843	0.36859	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	996.63	35	chr3	126501908	.	C	T	996.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.668;DP=255;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=0.195;SOR=0.665	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1205	6	0	1	0
chr3	126621836	126621836	C	T	exonic	TXNRD3	.	unknown	UNKNOWN	.	437	1081	3	1	0	5	0.00230734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.819	.	.	0.000199681	0.0017	0	0	0	0	0.0059	0	0.0001	0.0001811	28	154602	rs199721803	0.0004	0.0004	0.0004	0.0004	0.0007	0.0004	0.0004	0.0004	0.0004	3.169e-05	0.0002	0.0126	0	0	0.0007	0.0001	0.0013	0.0005	0.0005	0.0005	0.0005	0.0004	0.0010	0.0004	0.0003	0.0004	0.0003	4.813e-05	0	6.535e-05	0.0144	0	9.427e-05	0	0.0002	0	0.0010	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	.	.	.	4.69	0.99455	H	.	.	.	.	.	.	0.987	0.99548	1.099	0.99632	D	0.939	0.97999	D	10	0.0356794	0.01828	T	.	.	.	0.819	0.94200	.	.	0.253205268125	0.24938	.	.	.	.	0.660247087479	0.61445	T	0.440711	0.78552	T	0.258143	0.79358	D	0.469287	0.93989	D	0.502362906932831	0.32716	D	0.999049	0.99552	D	0.5987522	0.72624	0.52048945	0.72296	0.5987522	0.72626	0.52048945	0.72296	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.653575	0.74205	26.1	0.99767812127005739	0.85666	0.98051	0.79185	D	AEFGBI	0.923895	0.90108	D	0.887130088639511	0.91115	10.72293	0.693737031999722	0.81904	7.636739	0.999999999999794	0.74766	0.740787	0.97801	0	0.573888	0.26702	0	0.658983	0.55881	0	0.673998	0.66042	0	.	.	5.52	5.52	0.82153	7.665000	0.82824	7.544000	0.60141	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.060000	0.15972	0.0:1.0:0.0:0.0	16.941	0.86088	854	0.34840	.;.;.;FAD/NAD(P)-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	989.63	34	chr3	126621836	.	C	T	989.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.431;DP=277;ExcessHet=0;FS=4.876;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=-1.836;SOR=0.824	GT:AD:DP:GQ:PL	0/1:56,48:104:99:1000,0,1184	6	0	1	0
chr3	127660717	127660717	C	T	exonic	PODXL2	.	nonsynonymous SNV	PODXL2:NM_015720:exon3:c.C689T:p.S230L	.	.	.	.	.	.	.	.	.	.	.	2205503	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.058	0.0110582315136	.	.	0.0001	0	8.639e-05	0	0	0.0002	0	0	8.41e-05	13	154602	rs759498460	8.824e-05	8.824e-05	8.167e-05	9.488e-05	0.0005	7.554e-05	7.101e-05	0.0001	8.211e-05	0	0.0001	0	0	0	0.0005	0.0001	4.967e-05	3.478e-05	2.629e-05	2.627e-05	2.569e-05	2.691e-05	6.544e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.544e-05	0	0	0	0	4.41e-05	0	0	0.05	0.39575	D	0.088	0.40586	T	0.267	0.31683	B	0.058	0.26451	B	0.759323	0.09636	N	0.873209	0.999994	0.08975	N	1.935	0.51832	L	1.74	0.26301	T	-2.79	0.59059	D	0.182	0.19728	-1.0378	0.17985	T	0.047	0.20235	T	10	0.06931305	0.09928	T	0.011058	0.28291	T	0.058	0.16647	0.163	0.06730	0.043077524339	0.03247	0.09397406247692491	0.09329	0.2127558496	0.23780	0.260135412216	0.04906	T	0.064097	0.32346	T	-0.39393	0.02537	T	-0.518916	0.20405	T	0.540537297725677	0.34124	D	0.816518	0.47234	T	0.1666086	0.37006	0.17423394	0.39805	0.1666086	0.37006	0.17423394	0.39804	-3.843	0.21448	T	.	.	0.084	0.09675	B	.	.	2.437397	0.31368	18.72	0.99661667947218724	0.78011	0.20679	0.21129	N	AEFBI	0.198492	0.32534	N	-0.376862193190543	0.26296	1.434039	-0.319112858008173	0.27481	1.525238	0.999933584676993	0.46732	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	4.25	4.25	0.49658	3.040000	0.49489	2.298000	0.32000	0.549000	0.26987	0.028000	0.20300	0.013000	0.20296	0.551000	0.30197	0.0:1.0:0.0:0.0	14.42	0.66749	772	0.48957	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1454.42	33	chr3	127660717	.	C	T	1454.42	.	AC=2;AF=0.143;AN=14;DP=226;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=31.62;SOR=1.203	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1066	6	1	0	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	811.28	32	chr3	128055734	.	T	C	811.28	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.855;DP=354;ExcessHet=8.2628;FS=216.11;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=2.38;ReadPosRankSum=0.211;SOR=8.983	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:30,22:52:99:.:.:195,0,561:.	1	0	6	0
chr3	128264663	128264663	C	T	exonic	EEFSEC	.	nonsynonymous SNV	EEFSEC:NM_021937:exon4:c.C668T:p.P223L	.	422	1059	41	0	0	41	0.0189903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	.	0.0004	0.00219649	0.0020	0.0002	0.0016	0	0.0020	0.0007	0.0055	0.0094	0.0017205	266	154602	rs142548867	0.0011	0.0011	0.0008	0.0014	0.0220	0.0010	0.0010	0.0189	0.0177	0.0002	0.0011	0.0003	0.0001	0.0017	0.0220	0.0003	0.0016	0.0101	0.0008	0.0008	0.0007	0.0010	0.0115	0.0007	0.0007	0.0090	0.0082	0.0001	0	0.0007	0	0	0.0013	0.0102	0.0005	0.0024	0.0115	0.008	0.58626	D	0.017	0.60337	D	0.969	0.56768	D	0.474	0.46883	P	0.000260	0.46924	D	0.223006	0.999902	0.81001	D	2.24	0.63355	M	0.75	0.50192	T	-6.54	0.91786	D	0.441	0.47949	-0.8253	0.53600	T	0.154	0.48464	T	10	0.01511088	0.00317	T	.	.	.	0.198	0.48105	.	.	0.69078259148	0.68812	0.4082079854758552	0.40736	0.407012530583	0.41570	0.438673913479	0.30395	T	0.469336	0.80291	T	-0.445083	0.01207	T	-0.404431	0.32870	T	0.100143069804293	0.12373	T	.	.	.	0.55592567	0.70284	0.27926272	0.53893	0.55592567	0.70286	0.27926272	0.53892	-10.686	0.77907	D	.	.	0.126	0.26794	B	.	.	5.229074	0.87771	29.4	0.99511165797480594	0.68618	0.89978	0.50805	D	AEFDBI	0.366235	0.45412	N	0.185205174866161	0.50490	3.238374	0.164767691787827	0.47928	3.015957	0.999442695620509	0.39736	0.706298	0.61202	0	0.724815	0.89359	0	0.80507	0.99327	0	0.613276	0.41899	0	.	.	5.08	4.21	0.48984	4.245000	0.58529	7.652000	0.63756	0.549000	0.26987	0.970000	0.34288	1.000000	0.68203	0.864000	0.41028	0.1475:0.7764:0.0:0.0761	9.689	0.39283	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016113	0.000000	0.014946	0.046784	0.050000	0.008621	0.003049	0.011364	0.07143	1049.44	120	chr3	128264663	.	C	T	1049.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.4;DP=341;ExcessHet=0;FS=1.492;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=-1.364;SOR=0.898	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	6	0	1	0
chr3	129431542	129431542	C	G	exonic	MBD4	.	nonsynonymous SNV	MBD4:NM_001276273:exon7:c.G748C:p.D250H,MBD4:NM_001276270:exon8:c.G1684C:p.D562H,MBD4:NM_003925:exon8:c.G1702C:p.D568H	.	424	1065	32	1	0	34	0.0157116	.	.	.	215269	not_specified|Inborn_genetic_diseases|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.178	.	0.0044	0.00419329	0.0054	0.0012	0.0041	0	0.0005	0.0062	0.0110	0.0101	0.001022	158	154602	rs2307293	0.0074	0.0074	0.0072	0.0076	0.0110	0.0073	0.0072	0.0104	0.0102	0.0013	0.0034	0.0083	2.521e-05	0.0005	0.0068	0.0080	0.0078	0.0110	0.0052	0.0052	0.0056	0.0049	0.0118	0.0049	0.0048	0.0094	0.0085	0.0011	0.0307	0.0048	0.0104	0.0002	0.0005	0.0068	0.0078	0.0085	0.0118	0.005	0.68238	D	0.03	0.54159	D	0.997	0.73220	D	0.957	0.75793	D	0.000069	0.52346	D	0.164390	0.963902	0.81001	D	1.905	0.50856	L	0.98	0.42122	T	-3.18	0.75456	D	0.178	0.39254	-0.7362	0.58647	T	0.131	0.44129	T	10	0.009672582	0.00218	T	.	.	.	0.178	0.44724	.	.	0.458283960492	0.45451	0.7266496205129804	0.72608	0.54536870506	0.51572	0.430127859116	0.29226	T	0.518784	0.83131	D	-0.37689	0.03259	T	-0.306477	0.44037	T	0.0162388160515095	0.00397	T	0.922508	0.71813	D	0.60559386	0.72992	0.42838448	0.66553	0.60559386	0.72993	0.42838448	0.66554	-10.301	0.75694	D	.	.	0.393	0.59160	A	.;.;.	.;.;.	4.924803	0.81138	27.5	0.99247647619537593	0.56759	0.92127	0.55004	D	AEFBI	0.304100	0.41189	N	0.282336914429471	0.55252	3.689473	0.270801018861921	0.53840	3.551252	0.999733706754032	0.42341	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.12	4.25	0.49658	1.404000	0.34232	7.647000	0.63496	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.7638:0.0:0.2362	8.707	0.33524	442	0.79946	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.000000	0.000000	0.008621	0.015244	0.011364	0.07143	702.83	34	chr3	129431542	.	C	G	702.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.262;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=-1.107;SOR=0.706	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,997	6	0	1	0
chr3	129514474	129514474	C	G	exonic	IFT122	.	nonsynonymous SNV	IFT122:NM_052990:exon22:c.C2743G:p.L915V,IFT122:NM_001280546:exon23:c.C2446G:p.L816V,IFT122:NM_018262:exon24:c.C2896G:p.L966V,IFT122:NM_001280541:exon25:c.C3052G:p.L1018V,IFT122:NM_052989:exon25:c.C3073G:p.L1025V,IFT122:NM_001280545:exon26:c.C2623G:p.L875V,IFT122:NM_052985:exon26:c.C3226G:p.L1076V	Cranioectodermal dysplasia 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1692152	not_provided|Cranioectodermal_dysplasia_1	MedGen:C3661900|MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330,Orphanet:1515	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.230	0.0705426468242	.	.	9.915e-05	0	0	0	0	0.0001	0	0.0002	8.41e-05	13	154602	rs778888913	6.772e-05	6.772e-05	4.9e-05	8.663e-05	8.115e-05	5.67e-05	5.26e-05	6.322e-05	5.824e-05	0	0	0	0	0	0	7.644e-05	0.0001	8.115e-05	3.941e-05	3.939e-05	7.705e-05	0	5.88e-05	1.715e-05	1.129e-05	1.972e-05	1.124e-05	2.412e-05	0	0	0	0	0	0	5.88e-05	0.0005	0	0.005	0.65419	D	0.006	0.72224	D	0.911	0.70673	P	0.646	0.74104	P	0.000001	0.84330	D	0.000000	1	0.81001	D	3.29	0.90338	M	-0.0	0.66113	T	-2.24	0.50830	N	0.836	0.84817	-0.2068	0.77496	T	0.445	0.78155	T	10	0.758286	0.76149	D	0.070543	0.71031	D	0.230	0.53062	0.337	0.32654	0.822958799421	0.82128	0.6403663915920894	0.63971	0.752351237728	0.63835	0.437108039856	0.30182	T	0.335628	0.70523	T	0.0360918	0.56531	T	0.0507355	0.73632	D	0.733193278312683	0.42376	D	0.948305	0.81867	D	0.33920765	0.56217	0.2722721	0.53136	0.33920765	0.56217	0.2722721	0.53135	-10.302	0.75969	D	0.5104194535731374	0.58424	0.217	0.49196	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.627165	0.51356	23.1	0.99848945851889681	0.92838	0.98117	0.79742	D	AEFBI	0.846226	0.76311	D	0.676450817290365	0.78089	6.801901	0.665828821173307	0.79796	7.158261	0.999999999999719	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	5.942000	0.69916	6.002000	0.52504	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.666000	0.33137	0.0:1.0:0.0:0.0	19.014	0.92863	503	0.75780	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1017.44	33	chr3	129514474	.	C	G	1017.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.478;DP=269;ExcessHet=0;FS=0.793;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=2.65;SOR=0.823	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1219	6	0	1	0
chr3	129532755	129532755	A	T	exonic	RHO	.	nonsynonymous SNV	RHO:NM_000539:exon4:c.A919T:p.I307F	Night blindness, congenital stationary, autosomal dominant 1;Retinitis pigmentosa 4, autosomal dominant or recessive, Autosomal recessive, Autosomal dominant;Retinitis punctata albescens, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1037321	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.323	0.0766670746209	.	.	0.0003	0	0.0002	0	0	0	0	0.0021	0.0002329	36	154602	rs771322615	0.0001	0.0001	7.351e-05	0.0002	0.0019	0.0001	0.0001	0.0016	0.0016	0	2.236e-05	0	0	0	0	8.993e-07	0.0003	0.0019	3.285e-05	3.283e-05	1.284e-05	5.38e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.315	0.90654	M	1.18	0.37746	T	-2.54	0.55025	D	0.827	0.82257	-0.5753	0.65804	T	0.241	0.60917	T	10	0.36479735	0.53016	T	0.076667	0.72587	D	0.323	0.64522	0.457	0.52265	0.983232311567	0.98304	0.8360113405019647	0.83561	1.09375067789	0.77517	0.644335389137	0.59180	T	0.71175	0.91783	D	-0.071553	0.41076	T	0.117179	0.78048	D	0.270170502044502	0.23755	T	0.974353	0.90870	D	0.93528515	0.94769	0.91277546	0.95886	0.93528515	0.94769	0.91277546	0.95886	-10.867	0.78923	D	0.32443642075318635	0.42259	0.637	0.70410	P	.	.	4.546791	0.71521	25.7	0.988731259158942	0.47684	0.96676	0.70347	D	AEFBI	0.704849	0.66043	D	0.770782483069856	0.84252	8.235766	0.744092070563642	0.85715	8.664014	0.999996863618545	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.67	5.67	0.87673	6.077000	0.70910	9.373000	0.80461	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.924	0.79384	511	0.75131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1763.44	42	chr3	129532755	.	A	T	1763.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.936;DP=333;ExcessHet=0;FS=0.634;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-0.28;SOR=0.594	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1238	6	0	1	0
chr3	129977050	129977050	C	T	exonic	TRH	.	nonsynonymous SNV	TRH:NM_007117:exon3:c.C563T:p.P188L	Thyrotropin-releasing hormone deficiency, Autosomal recessive	8	1512	2	0	0	2	0.000660939	.	.	.	697831	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.622	.	0.0032	0.00439297	0.0025	0.0095	0.0027	0	0	0.0025	0.0069	6.417e-05	0.0023092	357	154602	rs35004321	0.0015	0.0015	0.0016	0.0015	0.0082	0.0015	0.0015	0.0074	0.0071	0.0082	0.0044	0.0235	5.049e-05	0	0.0054	0.0008	0.0034	0.0001	0.0040	0.0040	0.0036	0.0044	0.0078	0.0037	0.0036	0.0071	0.0068	0.0078	0	0.0076	0.0190	0.0002	0	0.0136	0.0012	0.0061	0.0002	0.0	0.91255	D	0.041	0.51421	D	1.0	0.90584	D	0.999	0.92359	D	0.000048	0.53742	D	0.164275	1	0.81001	D	3.005	0.85968	M	-0.54	0.70950	T	-8.86	0.97876	D	0.565	0.60918	0.013	0.82519	D	0.446	0.78209	T	10	0.019107252	0.00423	T	.	.	.	0.622	0.85354	.	.	0.931523353407	0.93081	0.26309343759805837	0.26222	0.465052223951	0.45958	0.619675397873	0.55684	T	0.625137	0.88307	D	-0.0592499	0.43025	T	0.148371	0.80082	D	0.0857328738770689	0.10703	T	0.866813	0.57326	D	0.81398124	0.84817	0.6728747	0.80800	0.81398124	0.84819	0.6728747	0.80801	-13.267	0.90432	D	.	.	0.352	0.57859	A	.;.	.;.	3.976380	0.58419	24.0	0.99625258316171317	0.75655	0.84527	0.43609	D	AEFDBI	0.091075	0.18451	N	0.277386259673135	0.55005	3.664867	0.147609374672997	0.47015	2.938245	0.974099915885111	0.29512	0.582742	0.33608	0	0.563428	0.19063	0	0.61531	0.40942	0	0.530356	0.10902	0	.	.	4.65	3.76	0.42368	2.387000	0.44043	5.479000	0.48717	0.599000	0.40250	0.966000	0.33990	1.000000	0.68203	0.059000	0.15899	0.1916:0.8084:0.0:0.0	10.703	0.45131	849	0.35778	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.010585	0.035354	0.012228	0.008772	0.000000	0.000000	0.003049	0.000000	0.07143	581.46	44	chr3	129977050	.	C	T	581.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.2;DP=301;ExcessHet=0;FS=2.623;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=1.94;SOR=0.794	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	6	0	1	0
chr3	129977164	129977164	G	A	exonic	TRH	.	nonsynonymous SNV	TRH:NM_007117:exon3:c.G677A:p.R226Q	Thyrotropin-releasing hormone deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0205016763121	0.0004	.	0.0002	0.0005	0	0	0	0.0002	0	0.0003	0.0001294	20	154602	rs149654673	5.764e-05	5.815e-05	5.299e-05	6.248e-05	0.0008	4.704e-05	4.354e-05	0.0003	0.0002	9.927e-05	0	0	0	0	0.0008	4.205e-05	0.0002	0.0002	9.2e-05	9.193e-05	7.707e-05	0.0001	0.0003	5.528e-05	4.365e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	1.47e-05	0	0.0002	0.05	0.39575	D	0.078	0.42794	T	0.031	0.20130	B	0.005	0.11217	B	0.000286	0.46274	D	0.139469	0.735581	0.33766	D	1.53	0.38800	L	0.42	0.56937	T	-2.77	0.58733	D	0.136	0.14196	-0.9370	0.43088	T	0.099	0.36932	T	10	0.10128024	0.18495	T	0.020502	0.43107	T	0.221	0.51721	.	.	0.591436515814	0.58820	0.1247423405024329	0.12400	0.107529319556	0.12131	0.461057066917	0.33456	T	0.81531	0.95427	D	-0.309848	0.07762	T	-0.366696	0.37276	T	0.0329615629146756	0.02465	T	0.711729	0.32279	T	0.075190924	0.16924	0.116949216	0.28232	0.075190924	0.16924	0.116949216	0.28231	-10.609	0.77471	D	.	.	0.145	0.33319	B	.;.	.;.	2.299649	0.29424	18.12	0.97572301437971765	0.34686	0.65808	0.32862	D	AEFDBI	0.132996	0.25250	N	-0.593608875588521	0.19137	0.9992728	-0.491083452671393	0.22398	1.21636	0.945861826258527	0.27680	0.549168	0.22868	0	0.563428	0.19063	0	0.590023	0.30420	0	0.530356	0.10902	0	.	.	4.34	3.47	0.38831	1.279000	0.32796	1.640000	0.27787	-0.202000	0.08738	0.988000	0.36536	0.997000	0.33255	0.073000	0.16832	0.1093:0.0:0.8907:0.0	8.708	0.33529	850	0.35610	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1063.46	48	chr3	129977164	.	G	A	1063.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.061;DP=369;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.645;SOR=0.73	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	6	0	1	0
chr3	130421335	130421335	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012A:p.G1671E,COL6A5:NM_153264:exon27:c.G5012A:p.G1671E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.794	0.167130559847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.723514	0.33642	D	.	.	.	-6.28	0.99614	D	-5.87	0.88630	D	0.94	0.94668	1.094	0.99395	D	0.984	0.99521	D	9	0.985523	0.98809	D	0.167131	0.84557	D	0.794	0.93227	0.951	0.99428	0.644124591191	0.64118	0.9735298133118696	0.97341	0.262336419958	0.28795	0.683480918407	0.64769	T	0.416298	0.76929	T	0.521063	0.94919	D	0.510694	0.94844	D	0.997076034545898	0.90711	D	0.920008	0.71084	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.79050	P	.	.	5.173918	0.86733	29.0	0.99152888611040157	0.53875	0.94007	0.59833	D	AEFBI	0.669031	0.63661	D	0.704442869841399	0.79923	7.181635	0.635508156860711	0.77535	6.698256	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1108.37	12	chr3	130421335	.	G	A	1108.37	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-1.486;DP=262;ExcessHet=4.1913;FS=286.714;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=5.46;ReadPosRankSum=0.879;SOR=8.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,10:56:99:.:.:202,0,1076:.	0	0	4	3
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L,COL6A5:NM_153264:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0596216124172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0065	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0007	0.0006	0	0.0001	0.0002	0	0	0.0008	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.994102	0.23586	N	.	.	.	-3.21	0.93291	D	-4.25	0.76094	D	0.346	0.38746	-0.0234	0.81768	T	0.759	0.91798	D	9	0.33778954	0.50895	T	0.059622	0.67727	D	0.345	0.66676	0.293	0.25560	0.772553812157	0.77047	0.6545526502865353	0.65391	0.0445941632002	0.04821	0.518319308758	0.41390	T	0.066183	0.32881	T	0.0586812	0.59446	T	-0.153485	0.58935	T	0.887333691120148	0.53783	D	0.69513	0.30474	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73446	P	.	.	3.513518	0.49220	22.7	0.9944396451167653	0.64921	0.69566	0.34238	D	AEFBI	0.198693	0.32554	N	0.0829394031833179	0.45667	2.819489	0.0156810835164205	0.40442	2.413623	1.72206950552093E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	1.49	0.21966	0.820000	0.26979	1.068000	0.23780	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1594:0.1801:0.0:0.6605	3.899	0.08653	369	0.84396	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1150.39	14	chr3	130421337	.	T	C	1150.39	.	AC=4;AF=0.5;AN=8;BaseQRankSum=0.181;DP=257;ExcessHet=4.1913;FS=293.182;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=5.28;ReadPosRankSum=0.977;SOR=8.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,20:58:99:.:.:280,0,1059:.	0	0	4	3
chr3	130567185	130567185	G	A	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon4:c.G1766A:p.R589K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.395	0.0101411813742	.	0.000199681	1.699e-05	0.0002	0	0	0	0	0	0	1.94e-05	3	154602	rs545500523	4.106e-06	4.104e-06	5.447e-06	2.751e-06	0.0002	1.48e-06	9.7e-07	7.712e-05	5.305e-05	0.0002	0	0	0	0	0	0	0	0	2.626e-05	2.625e-05	2.57e-05	2.685e-05	9.624e-05	8.14e-06	5.14e-06	3.243e-05	1.91e-05	9.624e-05	0	0	0	0	0	0	0	0	0	0.11	0.29158	T	0.002	0.79402	D	0.374	0.34192	B	0.119	0.32162	B	0.000336	0.45700	D	0.097898	1	0.08975	N	1.535	0.38868	L	-1.72	0.83241	D	-1.91	0.44471	N	0.406	0.44666	-0.6988	0.60495	T	0.380	0.73684	T	10	0.122849554	0.23312	T	0.010141	0.26324	T	0.395	0.71004	.	.	0.33340067248	0.32956	0.6413208069066034	0.64067	0.162093636695	0.18288	0.422310441732	0.28154	T	0.051316	0.28845	T	-0.173488	0.24710	T	-0.207545	0.53930	T	0.140787301227498	0.16344	T	0.670533	0.27914	T	0.3079094	0.53604	0.28061116	0.54038	0.3079094	0.53604	0.28061116	0.54037	-4.564	0.31716	T	.	.	0.090	0.12702	B	.	.	2.617839	0.34010	19.51	0.98342632529413943	0.40457	0.62981	0.31948	D	AEFBI	0.221255	0.34590	N	-0.398672853726351	0.25517	1.385699	-0.344420472098544	0.26682	1.475386	2.22281323331178E-4	0.06048	0.603402	0.35316	0	0.548873	0.16688	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	3.72	0.41857	3.550000	0.53438	4.003000	0.41092	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.304000	0.24594	0.2392:0.0:0.7608:0.0	8.466	0.32115	634	0.64659	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	121.27	62	chr3	130567185	.	G	A	121.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.039;DP=376;ExcessHet=0;FS=30;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.21;ReadPosRankSum=1.59;SOR=5.047	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,12:100:99:0|1:130567183_G_A:131,0,3565:130567183	5	0	1	1
chr3	130567187	130567187	G	C	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon4:c.G1768C:p.V590L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391	0.0189373461549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.232e-05	0.0012	4.868e-05	5.596e-05	6.371e-05	4.252e-05	3.912e-05	5.089e-05	4.677e-05	3.097e-05	0	0	0	0	0	6.371e-05	6.872e-05	1.178e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.002	0.79402	D	0.08	0.24543	B	0.046	0.24676	B	0.001451	0.38980	N	0.114240	0.999999	0.08975	N	2.165	0.60562	M	-1.26	0.79176	T	-2.08	0.47514	N	0.347	0.38848	-0.5426	0.67065	T	0.392	0.74597	T	10	0.2660099	0.44102	T	0.018937	0.41162	T	0.391	0.70684	0.61	0.74300	0.418095516054	0.41424	0.5657853470850149	0.56506	0.080742506992	0.09089	0.404221683741	0.25655	T	0.113633	0.43082	T	0.0139342	0.53561	T	-0.217761	0.52952	T	0.248262226581573	0.22795	T	0.767723	0.39623	T	0.33217052	0.55648	0.36591178	0.61931	0.33217052	0.55648	0.36591178	0.61930	-4.882	0.35532	T	.	.	0.193	0.41249	B	.	.	2.506353	0.32366	19.02	0.98697456208970824	0.44852	0.84425	0.43507	D	AEFBI	0.281125	0.39478	N	-0.172467142888867	0.34285	1.955039	-0.115595093862224	0.34761	2.003213	4.60474207476358E-4	0.07036	0.603402	0.35316	0	0.548873	0.16688	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	4.63	0.57175	1.195000	0.31795	5.827000	0.50131	0.676000	0.76740	0.770000	0.29357	1.000000	0.68203	0.366000	0.26021	0.2276:0.0:0.7724:0.0	8.935	0.34853	634	0.64659	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	133.43	53	chr3	130567187	.	G	C	133.43	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.064;DP=400;ExcessHet=0;FS=30.283;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.39;ReadPosRankSum=1.65;SOR=5.136	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,12:96:99:0|1:130567183_G_A:143,0,3453:130567183	5	0	1	1
chr3	130567188	130567188	T	C	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon4:c.T1769C:p.V590A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.0142214762606	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1159023458	1.374e-06	5.959e-05	1.367e-06	1.38e-06	1.807e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.807e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.098	0.39040	T	0.004	0.12183	B	0.011	0.15521	B	0.001451	0.38980	N	0.114240	0.999999	0.08975	N	1.875	0.49914	L	-1.28	0.79376	T	-2.82	0.59545	D	0.146	0.14763	-0.5915	0.65161	T	0.437	0.77663	T	10	0.19625989	0.35511	T	0.014221	0.34189	T	0.286	0.60456	0.685	0.82271	0.387529464389	0.38369	0.5496375422416154	0.54889	0.0697944257895	0.07817	0.416908562183	0.27412	T	0.059197	0.31052	T	-0.0570473	0.43367	T	-0.319721	0.42606	T	0.157308384776115	0.17670	T	0.553245	0.19112	T	0.23264664	0.46055	0.25741926	0.51458	0.23264664	0.46055	0.25741926	0.51457	-5.899	0.45427	T	.	.	0.118	0.24020	B	.	.	1.491384	0.19183	14.13	0.97905060155362733	0.36773	0.16878	0.19590	N	AEFBI	0.104465	0.20901	N	-0.469991560646056	0.23067	1.23618	-0.443091986715802	0.23745	1.296543	1.92770655783223E-4	0.05898	0.603402	0.35316	0	0.548873	0.16688	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	4.34	0.51267	0.298000	0.18874	1.185000	0.24724	0.665000	0.62972	0.053000	0.21524	0.914000	0.28189	0.389000	0.26536	0.0:0.0737:0.0:0.9263	11.008	0.46862	634	0.64659	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	137.17	56	chr3	130567188	.	T	C	137.17	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-4.866;DP=383;ExcessHet=0;FS=30.346;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.54;SOR=5.136	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,12:95:99:0|1:130567183_G_A:146,0,3442:130567183	4	0	1	2
chr3	130661954	130661954	G	A	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon34:c.G6148A:p.E2050K	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00702338526753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	4.084e-06	0	1.159e-05	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	0	3.313e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.551	0.06564	T	0.061	0.45530	T	0.032	0.20242	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	2.495	0.72670	M	2.63	0.12884	T	-1.52	0.36980	N	0.304	0.34336	-0.9907	0.32424	T	0.024	0.10058	T	9	0.078474015	0.12510	T	0.007023	0.18594	T	0.006	0.00375	0.426	0.47185	0.130388298395	0.12655	0.3359731534233979	0.33510	0.0632575007222	0.07043	0.29738137126	0.10012	T	0.069822	0.33806	T	-0.343901	0.05123	T	-0.634913	0.10044	T	0.0490264598123526	0.05328	T	0.381062	0.09207	T	0.0314636	0.02992	0.056967944	0.10272	0.0314636	0.02992	0.056967944	0.10271	-4.633	0.32583	T	.	.	0.094	0.14523	B	.	.	0.742439	0.11117	7.764	0.94417297655061239	0.24821	0.08502	0.14423	N	AEFBI	0.090567	0.18351	N	-0.880173432001283	0.11315	0.5453859	-0.883812025929149	0.12477	0.6420301	0.00385233702879191	0.10307	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	6.04	1.24	0.20416	0.125000	0.15577	0.610000	0.20021	-0.106000	0.15538	0.005000	0.17040	0.025000	0.21018	0.000000	0.00833	0.204:0.2738:0.5221:0.0	7.227	0.25197	448	0.79501	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	49.44	34	chr3	130661954	.	G	A	49.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.052;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.94;ReadPosRankSum=0.431;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1233	6	0	1	0
chr3	130967212	130967212	A	G	exonic	ATP2C1	.	nonsynonymous SNV	ATP2C1:NM_001199182:exon13:c.A1175G:p.Y392C,ATP2C1:NM_001199180:exon14:c.A1292G:p.Y431C,ATP2C1:NM_001199181:exon14:c.A1292G:p.Y431C,ATP2C1:NM_001199183:exon14:c.A1142G:p.Y381C,ATP2C1:NM_001199184:exon14:c.A1142G:p.Y381C,ATP2C1:NM_001199185:exon14:c.A1190G:p.Y397C,ATP2C1:NM_001378511:exon14:c.A1292G:p.Y431C,ATP2C1:NM_001378514:exon14:c.A1142G:p.Y381C,ATP2C1:NM_014382:exon14:c.A1190G:p.Y397C,ATP2C1:NM_001001485:exon15:c.A1190G:p.Y397C,ATP2C1:NM_001001486:exon15:c.A1190G:p.Y397C,ATP2C1:NM_001001487:exon15:c.A1190G:p.Y397C,ATP2C1:NM_001199179:exon15:c.A1190G:p.Y397C,ATP2C1:NM_001378512:exon15:c.A1190G:p.Y397C,ATP2C1:NM_001378513:exon15:c.A1190G:p.Y397C,ATP2C1:NM_001378687:exon15:c.A1190G:p.Y397C	Hailey-Hailey disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2446355	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.0698917183946	7.7e-05	.	5.766e-05	0	0	0	0.0002	5.994e-05	0	0.0001	4.53e-05	7	154602	rs369250519	5.337e-05	5.336e-05	4.493e-05	6.189e-05	0.0002	4.345e-05	4.018e-05	0.0001	0.0001	5.976e-05	2.236e-05	0	5.041e-05	0.0001	0	3.598e-05	9.938e-05	0.0002	3.286e-05	3.284e-05	3.854e-05	2.691e-05	4.825e-05	1.261e-05	7.98e-06	8e-06	2.99e-06	4.825e-05	0	0	0	0	9.425e-05	0	2.94e-05	0	0	0.177	0.22400	T	0.086	0.42436	T	0.0	0.02946	B	0.001	0.04355	B	0.043590	0.23724	N	0.479652	0.658275	0.33027	D	0.925	0.23481	L	-2.97	0.92613	D	0.49	0.02993	N	0.25	0.42247	-0.1371	0.79236	T	0.513	0.81710	D	10	0.16214788	0.30397	T	0.069892	0.70854	D	0.322	0.64420	.	.	0.783050754616	0.78104	0.39847061094616015	0.39762	.	.	0.427271783352	0.28835	T	0.268316	0.74768	T	-0.0947554	0.37290	T	-0.0995864	0.63430	T	0.530708789825439	0.33760	D	0.90041	0.65400	D	0.072442204	0.16115	0.08607318	0.19918	0.072442204	0.16115	0.08607318	0.19918	-2.643	0.08759	T	0.09317647738045433	0.06101	0.055	0.11414	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	3.100542	0.41782	21.4	0.97277604989150868	0.33167	0.91470	0.53599	D	AEFBI	0.641075	0.61854	D	-0.257514836969515	0.30804	1.721085	-0.0589134654680089	0.37108	2.168269	0.999587729056699	0.40607	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.4	4.25	0.49658	4.605000	0.60825	6.187000	0.54715	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.8499:0.0:0.1501:0.0	8.466	0.32117	618	0.66225	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1478.45	34	chr3	130967212	.	A	G	1478.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.49;DP=323;ExcessHet=0;FS=0.643;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.364;SOR=0.604	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1337	6	0	1	0
chr3	131025011	131025011	T	A	exonic	ASTE1	.	nonsynonymous SNV	ASTE1:NM_001288950:exon3:c.A296T:p.K99M,ASTE1:NM_014065:exon3:c.A296T:p.K99M	.	428	1093	1	0	0	1	0.000457247	.	.	.	2725477	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.267	0.0366441863102	.	.	1.708e-05	0	0	0	0	0	0	0.0001	2.59e-05	4	154602	rs199709970	3.456e-05	3.557e-05	2.196e-05	4.734e-05	0.0004	2.659e-05	2.399e-05	0.0003	0.0002	0	0	0	0	0	0	1.63e-05	3.351e-05	0.0004	1.313e-05	1.312e-05	1.285e-05	1.342e-05	0.0004	2.18e-06	8.2e-07	7.296e-05	3.031e-05	0	0	0	0	0	0	0	0	0	0.0004	0.002	0.72154	D	0.003	0.76473	D	0.998	0.90584	D	0.866	0.81110	P	0.000000	0.84330	D	0.088762	0.965244	0.38456	D	2.66	0.77858	M	.	.	.	-3.98	0.73788	D	0.524	0.55366	-0.1301	0.79399	T	0.422	0.76684	T	9	0.35130224	0.51983	T	0.036644	0.57123	D	0.267	0.58126	0.372	0.38340	0.472023113445	0.46832	0.759067737322365	0.75854	0.738080236287	0.63091	0.464168459177	0.33882	T	0.208403	0.58929	T	-0.175047	0.24476	T	-0.199076	0.54734	T	0.792243778705597	0.45837	D	0.789321	0.42944	T	0.4279622	0.62618	0.3014791	0.56180	0.4279622	0.62619	0.3014791	0.56179	-14.731	0.95190	D	.	.	0.514	0.67199	A	.;.	.;.	3.405755	0.47225	22.4	0.99395155548214553	0.62519	0.62186	0.31706	D	AEFBCI	.	.	.	0.0444784507731946	0.43889	2.673127	-0.0794665915290804	0.36240	2.106521	0.999996335293438	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.45	4.29	0.50359	0.405000	0.20738	1.925000	0.29735	-0.108000	0.15293	0.998000	0.41325	1.000000	0.68203	0.621000	0.31922	0.0:0.0727:0.0:0.9273	11.195	0.47937	627	0.65350	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1352.63	36	chr3	131025011	.	T	A	1352.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.802;DP=303;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-0.659;SOR=0.765	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr3	132475002	132475002	C	G	exonic	DNAJC13	.	nonsynonymous SNV	DNAJC13:NM_015268:exon22:c.C2362G:p.L788V,DNAJC13:NM_001329126:exon23:c.C2377G:p.L793V	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.0253801116622	.	.	4.122e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs779730514	2.945e-05	2.941e-05	1.09e-05	4.818e-05	0.0005	2.219e-05	1.972e-05	0.0004	0.0003	0	0	0	0	0	0.0005	0	0	0.0005	6.574e-06	6.564e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.044	0.41096	D	0.016	0.60972	D	0.993	0.65571	D	0.987	0.77487	D	0.000002	0.62929	D	0.000000	0.999995	0.58761	D	2.54	0.74080	M	1.19	0.37578	T	-2.01	0.46337	N	0.844	0.83987	-0.7696	0.56879	T	0.192	0.54418	T	10	0.6665257	0.70459	D	0.02538	0.48351	D	0.183	0.45592	0.359	0.36222	0.47552262612	0.47182	0.7518557088635859	0.75132	0.743094374649	0.63370	0.558649003506	0.47078	T	0.087277	0.37908	T	-0.0069553	0.50692	T	0.048425	0.73480	D	0.408829063177109	0.29274	T	0.972478	0.90093	D	0.23415124	0.46231	0.16475587	0.38150	0.23415124	0.46231	0.16475587	0.38149	-9.141	0.68600	D	.	.	0.250	0.48500	B	.	.	4.114030	0.61441	24.3	0.99834145109908701	0.91542	0.92688	0.56304	D	AEFBCI	0.684912	0.64710	D	0.615072051093276	0.74125	6.080205	0.587037694981738	0.74008	6.064883	0.999418729768405	0.39577	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.59	4.7	0.58776	4.615000	0.60893	5.984000	0.52218	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.857:0.0:0.143	11.824	0.51530	818	0.41518	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	780.44	36	chr3	132475002	.	C	G	780.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.723;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=1.32;SOR=0.643	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,999	6	0	1	0
chr3	132494190	132494190	A	G	exonic	DNAJC13	.	nonsynonymous SNV	DNAJC13:NM_015268:exon34:c.A3872G:p.E1291G,DNAJC13:NM_001329126:exon35:c.A3887G:p.E1296G	.	430	1070	21	1	0	23	0.0106334	.	.	.	720180	Parkinson_disease_21|not_provided	MONDO:MONDO:0014604,MedGen:C4225353,OMIM:616361,Orphanet:411602|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.467	.	0.0038	0.00299521	0.0044	0.0013	0.0063	0	0.0014	0.0046	0.0066	0.0078	0.0044566	689	154602	rs61748101	0.0065	0.0065	0.0066	0.0064	0.0082	0.0064	0.0063	0.0077	0.0075	0.0010	0.0067	0.0010	5.045e-05	0.0013	0.0049	0.0071	0.0063	0.0082	0.0041	0.0041	0.0044	0.0038	0.0087	0.0039	0.0038	0.0066	0.0059	0.0011	0.0077	0.0062	0.0012	0	0.0008	0.0034	0.0061	0.0043	0.0087	0.003	0.68238	D	0.006	0.70582	D	0.995	0.67487	D	0.82	0.59072	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.52	0.73523	M	2.1	0.19990	T	-5.5	0.85844	D	0.878	0.87590	-0.9433	0.42089	T	0.097	0.36341	T	10	0.013666481	0.00289	T	.	.	.	0.467	0.76222	.	.	0.291402777868	0.28757	0.5699067835922972	0.56918	0.755799452961	0.64005	0.63191485405	0.57417	T	0.200838	0.55854	T	-0.211266	0.19200	T	-0.0711188	0.65546	T	0.0250800666739521	0.01283	T	0.913609	0.69252	D	0.6349251	0.74561	0.7283635	0.83951	0.6349251	0.74562	0.7283635	0.83952	-12.912	0.88997	D	.	.	0.455	0.62450	A	.	.	4.865826	0.79668	27.2	0.99933466210288779	0.99488	0.98914	0.88555	D	AEFBI	0.882978	0.81153	D	0.783870060892164	0.85085	8.472609	0.76754464561343	0.87461	9.230196	0.999999990148181	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.741806	0.99463	0	.	.	5.64	5.64	0.86480	9.063000	0.93355	9.394000	0.80599	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.859	0.78786	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.005051	0.006793	0.000000	0.000000	0.008621	0.006098	0.003788	0.07143	451.49	48	chr3	132494190	.	A	G	451.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.733;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=-0.676;SOR=0.611	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1089	6	0	1	0
chr3	132523636	132523636	G	C	exonic	DNAJC13	.	nonsynonymous SNV	DNAJC13:NM_015268:exon51:c.G5983C:p.V1995L,DNAJC13:NM_001329126:exon52:c.G5998C:p.V2000L	.	433	1074	14	1	0	16	0.00739372	.	.	.	720185	DNAJC13-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.191	0.0177829837758	0.0008	0.00159744	0.0012	0.0002	0.0009	0	0	0.0011	0.0022	0.0031	0.0011384	176	154602	rs10935014	0.0011	0.0011	0.0011	0.0012	0.0036	0.0011	0.0011	0.0033	0.0032	0.0001	0.0008	3.827e-05	0	0.0001	0.0029	0.0011	0.0012	0.0036	0.0007	0.0007	0.0007	0.0008	0.0023	0.0006	0.0006	0.0013	0.0010	0.0002	0	0.0003	0	0	0	0	0.0013	0.0014	0.0023	0.07	0.35349	T	0.105	0.38016	T	0.977	0.58535	D	0.831	0.59664	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.005	0.54552	M	2.26	0.17596	T	-1.3	0.32590	N	0.667	0.67564	-1.0531	0.13547	T	0.106	0.38783	T	10	0.017344773	0.00370	T	0.017783	0.39611	T	0.191	0.46948	.	.	0.279809986126	0.27602	0.4863937084219763	0.48559	0.309458645241	0.33251	0.756789684296	0.75452	T	0.037675	0.24563	T	-0.301645	0.08506	T	-0.209119	0.53780	T	0.0582460047692246	0.06889	T	0.972803	0.90184	D	0.2366842	0.46522	0.24917133	0.50482	0.2366842	0.46522	0.24917133	0.50481	-5.351	0.40445	T	.	.	0.781	0.76403	P	.	.	4.750447	0.76703	26.6	0.99335655598009953	0.59973	0.99101	0.91240	D	AEFBI	0.891315	0.82717	D	0.789709345495024	0.85456	8.581847	0.786110848288718	0.88809	9.724582	0.999999999994207	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	9.045000	0.93277	9.881000	0.82199	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.219	0.93775	824	0.40336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002016	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.003788	0.07143	565.46	33	chr3	132523636	.	G	C	565.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.36;DP=219;ExcessHet=0;FS=5.885;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=0.491;SOR=0.712	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1228	6	0	1	0
chr3	132601191	132601191	T	C	exonic	ACKR4	.	nonsynonymous SNV	ACKR4:NM_178445:exon1:c.T794C:p.I265T,ACKR4:NM_016557:exon2:c.T794C:p.I265T	.	437	1075	10	0	0	10	0.00462963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.0162901373016	0.0026	.	0.0024	0.0012	0.0012	0.0003	0.0024	0.0031	0.0011	0.0024	0.0003074	8	26028	rs145975679	0.0034	0.0034	0.0034	0.0033	0.0038	0.0033	0.0032	0.0037	0.0037	0.0004	0.0016	0.0015	7.56e-05	0.0030	0.0009	0.0038	0.0030	0.0026	0.0023	0.0023	0.0023	0.0022	0.0035	0.0021	0.0020	0.0029	0.0028	0.0012	0.0011	0.0011	0.0014	0.0002	0.0024	0.0034	0.0033	0.0019	0.0035	0.337	0.12837	T	0.097	0.39190	T	0.351	0.33667	B	0.197	0.36707	B	0.000231	0.47286	D	0.241583	1	0.81001	D	1.575	0.39704	L	1.14	0.38397	T	-2.33	0.51646	N	0.347	0.38848	-1.0917	0.05254	T	0.063	0.26136	T	10	0.015879035	0.00334	T	0.01629	0.37474	T	0.171	0.43483	.	.	0.566480848757	0.56312	0.3048211868356733	0.30395	.	.	0.411705493927	0.26693	T	0.080811	0.36453	T	-0.418002	0.01762	T	-0.375628	0.36232	T	0.017670769943331	0.00499	T	0.884412	0.60756	D	0.13303593	0.30958	0.14656669	0.34719	0.13303593	0.30957	0.14656669	0.34718	-4.083	0.25039	T	.	.	0.161	0.35519	B	.	.	3.890665	0.56604	23.8	0.98571271472234245	0.43115	0.99283	0.93924	D	AEFGI	0.829490	0.74839	D	-0.18745308337415	0.33655	1.911929	-0.0319963128446853	0.38279	2.252939	0.999999975425141	0.74766	0.554377	0.28877	0	0.54472	0.11627	0	0.670488	0.60580	0	0.567892	0.33627	0	.	.	5.42	4.24	0.49486	4.805000	0.62253	7.946000	0.75701	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1329:0.0:0.0:0.8671	11.676	0.50694	831	0.39019	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001832	0.000000	0.000000	0.000000	0.000000	0.008772	0.000000	0.008333	0.07143	173.44	33	chr3	132601191	.	T	C	173.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.858;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=36.86;MQRankSum=1.78;QD=8.26;ReadPosRankSum=-1.589;SOR=0.551	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1206	6	0	1	0
chr3	132619490	132619490	G	C	exonic	ACAD11	.	nonsynonymous SNV	ACAD11:NM_032169:exon10:c.C1253G:p.P418R	.	527	990	4	1	0	6	0.00302115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.735	.	0.0003	0.00259585	0.0019	9.69e-05	0.0010	0	0	0.0006	0.0056	0.0101	0.0016753	259	154602	rs148899232	0.0008	0.0009	0.0005	0.0010	0.0106	0.0008	0.0007	0.0084	0.0077	0.0004	0.0011	0.0008	2.592e-05	0	0.0106	0.0002	0.0013	0.0082	0.0008	0.0008	0.0005	0.0012	0.0100	0.0007	0.0007	0.0077	0.0069	0.0001	0	0.0023	0.0003	0	0	0.0102	0.0005	0.0014	0.0100	0.087	0.43085	T	0.109	0.37449	T	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999913	0.81001	D	3.43	0.92015	M	-6.42	0.99687	D	-4.2	0.75695	D	0.72	0.72209	1.049	0.98105	D	0.985	0.99561	D	9	0.00976187	0.00219	T	.	.	.	0.735	0.90764	.	.	0.987481040417	0.98734	0.7004209777693364	0.69983	0.641984679815	0.57776	.	.	.	0.62002	0.88076	D	0.0493975	0.58265	T	0.302745	0.88321	D	0.159044825812494	0.17801	T	0.765923	0.39447	T	0.6625053	0.76033	0.6638716	0.80295	0.6625053	0.76034	0.6638716	0.80296	-7.753	0.59375	D	.	.	0.372	0.64449	A	.;.	.;.	4.374519	0.67375	25.1	0.99674530769926195	0.78846	0.93991	0.59785	D	AEFGBI	0.620963	0.60583	D	0.616820060762509	0.74236	6.098817	0.583016148027399	0.73721	6.017323	0.985536609772924	0.30904	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.82	4.92	0.64147	5.228000	0.65139	9.890000	0.82266	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8558:0.1442	14.945	0.70675	845	0.36510	Acyl-CoA dehydrogenase/oxidase, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.012085	0.015152	0.006793	0.020468	0.000000	0.008621	0.015244	0.018939	0.07143	567.63	33	chr3	132619490	.	G	C	567.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.02;DP=234;ExcessHet=0;FS=0.968;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=-1.195;SOR=0.551	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,978	6	0	1	0
chr3	133757925	133757925	C	T	exonic	TF	.	nonsynonymous SNV	TF:NM_001354704:exon7:c.C646T:p.R216W,TF:NM_001063:exon8:c.C1027T:p.R343W,TF:NM_001354703:exon14:c.C895T:p.R299W	Atransferrinemia, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	888038	not_specified|not_provided|Atransferrinemia	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012239,MONDO:MONDO:0008846,MedGen:C0521802,OMIM:209300,Orphanet:1195	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.183	0.126029099385	0.0010	0.000599042	0.0008	9.626e-05	0.0006	0	0	0.0013	0.0011	6.078e-05	0.0008409	130	154602	rs150854910	0.0011	0.0011	0.0010	0.0011	0.0013	0.0010	0.0010	0.0012	0.0012	5.974e-05	0.0005	0	0	0.0003	0.0009	0.0013	0.0007	0.0002	0.0009	0.0009	0.0009	0.0009	0.0018	0.0008	0.0007	0.0015	0.0014	0.0003	0	0.0003	0	0	0.0003	0	0.0018	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.975	0.73362	D	0.003060	0.35512	N	0.352416	0.999999	0.08975	N	3.365	0.91266	M	1.18	0.37746	T	-5.0	0.82341	D	0.418	0.45803	-0.7402	0.58442	T	0.250	0.61912	T	10	0.066563666	0.09148	T	0.126029	0.80764	D	0.183	0.45592	.	.	0.754584596645	0.75235	0.4692992138143967	0.46848	1.09944149204	0.77684	0.297564834356	0.10039	T	0.461392	0.79818	T	-0.277829	0.10900	T	-0.177716	0.56734	T	0.125372518385887	0.14948	T	0.936706	0.76258	D	0.72976774	0.79710	0.75304204	0.85403	0.72203225	0.79276	0.73694426	0.84453	-7.102	0.54775	T	0.8549813511083862	0.92009	0.162	0.35705	B	.	.	4.786227	0.77623	26.7	0.99888638404238417	0.96359	0.63785	0.32198	D	AEFDBCI	0.854126	0.77113	D	0.386352462791411	0.60681	4.259808	0.2195148639966	0.50931	3.280155	0.999978256095548	0.50053	0.516011	0.20929	0	0.563428	0.19063	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.1	3.12	0.34986	2.411000	0.44254	0.766000	0.21355	0.599000	0.40250	0.976000	0.34826	0.189000	0.23482	0.956000	0.50813	0.3041:0.6959:0.0:0.0	13.469	0.60723	894	0.26265	Transferrin-like domain|Transferrin-like domain|Transferrin-like domain|Transferrin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	66.44	33	chr3	133757925	.	C	T	66.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.319;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.61;ReadPosRankSum=-1.15;SOR=0.446	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	6	0	1	0
chr3	133935886	133935886	A	G	exonic	SLCO2A1	.	nonsynonymous SNV	SLCO2A1:NM_005630:exon13:c.T1702C:p.S568P	Hypertrophic osteoarthropathy, primary, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.0303637549323	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.072	0.53788	T	0.96	0.55278	D	0.588	0.50402	P	0.000400	0.44960	D	0.255793	0.598237	0.32515	D	0.895	0.22405	L	0.21	0.59983	T	-2.67	0.59389	D	0.692	0.69737	-0.6723	0.61724	T	0.164	0.50045	T	10	0.7482154	0.75444	D	0.030364	0.52693	D	0.314	0.63588	0.757	0.88648	0.619681665072	0.61659	0.9880530354485982	0.98799	0.446697441316	0.44543	0.474733322859	0.35333	T	0.178283	0.52888	T	-0.0455271	0.45125	T	-0.303173	0.44390	T	0.978307008743286	0.72261	D	0.890711	0.62461	D	0.6579237	0.75787	0.6670326	0.80473	0.6579237	0.75789	0.6670326	0.80474	-9.455	0.70579	D	0.2305130102496536	0.31191	0.707	0.73260	P	.;.	.;.	2.663841	0.34712	19.70	0.94059241783754632	0.24193	0.11473	0.16657	N	AEFDBI	0.229164	0.35273	N	-0.627999110369051	0.18106	0.9373946	-0.749021122790219	0.15747	0.8296926	0.314185428029367	0.19318	0.638212	0.43195	0	0.59043	0.45803	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	5.4	-3.52	0.04383	0.734000	0.25769	0.023000	0.13619	-0.156000	0.11795	0.191000	0.24200	0.000000	0.08366	0.989000	0.64315	0.1614:0.8385:0.0:0.0	21.056	0.99947	713	0.56348	Major facilitator superfamily domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	282.63	35	chr3	133935886	.	A	G	282.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.239;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.31;ReadPosRankSum=-1.926;SOR=0.583	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	6	0	1	0
chr3	133947398	133947398	T	C	exonic	SLCO2A1	.	nonsynonymous SNV	SLCO2A1:NM_005630:exon9:c.A1153G:p.I385V	Hypertrophic osteoarthropathy, primary, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0135174260585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.287e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06992	T	0.278	0.32022	B	0.214	0.37471	B	0.000082	0.51296	D	0.172856	0.998569	0.45092	D	1.025	0.25523	L	0.34	0.58176	T	-0.08	0.09297	N	0.286	0.32370	-1.0337	0.19268	T	0.088	0.33913	T	10	0.1741527	0.32279	T	0.013517	0.32986	T	0.103	0.29403	0.552	0.66856	0.456368778954	0.45261	0.17417772395812692	0.17336	0.180607798138	0.20310	0.483463734388	0.36534	T	0.058665	0.30903	T	-0.178178	0.24006	T	-0.493717	0.23001	T	0.238408386707306	0.22346	T	0.763624	0.39028	T	0.072592154	0.16160	0.090469114	0.21215	0.072592154	0.16159	0.090469114	0.21214	-2.945	0.09600	T	0.1471760560640755	0.17034	0.085	0.18122	B	.;.	.;.	1.737092	0.22105	15.48	0.72376456997053173	0.09952	0.69810	0.34336	D	AEFDBI	0.285429	0.39806	N	-0.239153582156905	0.31538	1.769466	-0.054687819197049	0.37289	2.181248	0.999827058612655	0.43622	0.740787	0.97801	0	0.59043	0.45803	0	0.658983	0.55881	0	0.673998	0.66042	0	.	.	5.58	5.58	0.84361	1.446000	0.34701	2.941000	0.35666	-0.715000	0.03906	0.917000	0.31872	0.999000	0.35428	0.795000	0.37519	0.0:0.0:0.1413:0.8587	12.297	0.54172	713	0.56348	Major facilitator superfamily domain|Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	316.78	52	chr3	133947398	.	T	C	316.78	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.623;DP=432;ExcessHet=2.5225;FS=306.077;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=0.518;SOR=8.862	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,29:90:99:.:.:232,0,1112:.	3	0	4	0
chr3	138472657	138472657	A	T	exonic	ESYT3	.	nonsynonymous SNV	ESYT3:NM_001322831:exon18:c.A2035T:p.I679F,ESYT3:NM_001322834:exon18:c.A2035T:p.I679F,ESYT3:NM_031913:exon18:c.A2035T:p.I679F	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00270054237325	.	0.000998403	0.0002	0	8.639e-05	0.0016	0	4.495e-05	0.0011	0.0004	0.000194	30	154602	rs188083876	0.0002	0.0002	0.0002	0.0002	0.0044	0.0002	0.0002	0.0038	0.0036	0	0	3.826e-05	0.0044	0	0.0003	2.968e-05	0.0002	0.0006	0.0001	0.0001	5.138e-05	0.0002	0.0031	8.657e-05	7.25e-05	0.0019	0.0016	0	0	0.0001	0	0.0031	0	0	1.47e-05	0	0.0002	0.688	0.04328	T	0.112	0.37037	T	0.0	0.02946	B	0.0	0.01387	B	0.007116	0.01155	N	3.008430	1	0.08975	N	0	0.06538	N	1.23	0.36872	T	-0.6	0.17834	N	0.096	0.07673	-1.0252	0.22017	T	0.032	0.13679	T	10	0.004386395	0.00089	T	0.002701	0.05550	T	0.024	0.04979	.	.	0.0401082797425	0.02173	0.1650306999048394	0.16423	0.228960570762	0.25452	0.23677431047	0.02507	T	0.001266	0.00750	T	-0.60399	0.00138	T	-0.6809	0.06928	T	0.00264333082073668	0.00028	T	0.29727	0.05521	T	0.026228257	0.01653	0.037574857	0.03437	0.026228257	0.01653	0.037574857	0.03437	-3.767	0.20312	T	.	.	0.074	0.05017	B	.	.	-0.441062	0.02063	0.189	0.50930278662529926	0.04471	0.01661	0.05324	N	AEFDBI	0.057867	0.10813	N	-1.24577339115428	0.04356	0.1964209	-1.21494148751269	0.05670	0.270779	0.9999857133843	0.51787	0.713056	0.82018	0	0.59043	0.45803	0	0.608524	0.38960	0	0.631631	0.49550	0	.	.	4.97	-3.05	0.05069	-1.530000	0.02325	-2.265000	0.03977	-0.548000	0.04911	0.000000	0.06391	0.000000	0.08366	0.902000	0.43815	0.2054:0.5677:0.2269:0.0	9.767	0.39735	355	0.85216	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1666.44	143	chr3	138472657	.	A	T	1666.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.94;DP=358;ExcessHet=0;FS=6.138;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-0.839;SOR=1.111	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	6	0	1	0
chr3	138622357	138622357	C	A	exonic	FAIM	.	stopgain	FAIM:NM_001033032:exon3:c.C281A:p.S94X,FAIM:NM_018147:exon3:c.C281A:p.S94X,FAIM:NM_001033030:exon4:c.C383A:p.S128X,FAIM:NM_001033031:exon4:c.C347A:p.S116X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.241e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs767586049	1.369e-06	1.368e-06	0	2.752e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	6.603e-06	6.582e-06	0	1.354e-05	6.572e-05	0	0	.	.	0	0	6.572e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000003	0.62929	D	0.062804	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.919	0.92200	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607496	0.97860	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.;.;.;.	High;.;.;.;.;.	7.912520	0.96985	36	0.99629626964749463	0.75959	0.97493	0.75105	D	AEFBI	0.081701	0.16535	N	0.806288217135055	0.86499	8.904799	0.683069737907133	0.81092	7.446979	0.999925641727273	0.46280	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.82	4.95	0.64894	5.058000	0.64127	2.099000	0.30593	0.599000	0.40250	1.000000	0.71638	0.971000	0.29754	0.997000	0.79791	0.0:0.9209:0.0:0.0791	12.813	0.57030	778	0.48011	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	332.27	31	chr3	138622357	.	C	A	332.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.813;DP=180;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=2.25;SOR=0.804	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1013	5	0	1	1
chr3	138684790	138684790	T	C	exonic	PIK3CB	.	nonsynonymous SNV	PIK3CB:NM_001256045:exon6:c.A686G:p.N229S,PIK3CB:NM_006219:exon17:c.A2150G:p.N717S	.	426	1083	12	1	0	14	0.00642202	.	.	.	720210	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.092	0.0159663619193	0.0007	0.00119808	0.0017	0.0003	0.0010	0	0	0.0013	0.0034	0.0060	0.0014295	221	154602	rs74701669	0.0011	0.0011	0.0009	0.0013	0.0094	0.0011	0.0010	0.0074	0.0067	0.0005	0.0013	0.0095	2.52e-05	1.873e-05	0.0094	0.0006	0.0020	0.0053	0.0010	0.0010	0.0009	0.0011	0.0046	0.0009	0.0008	0.0031	0.0026	0.0003	0	0.0010	0.0127	0	0	0.0102	0.0008	0.0019	0.0046	0.681	0.09776	T	0.487	0.11656	T	0.007	0.14184	B	0.013	0.16460	B	0.000000	0.84330	D	0.055008	0.999995	0.58761	D	1.2	0.30300	L	-1.4	0.80474	T	-1.23	0.37759	N	0.116	0.10483	-0.6587	0.62333	T	0.300	0.67157	T	10	0.009204358	0.00208	T	0.015966	0.36990	T	0.294	0.61388	.	.	0.382607109125	0.37878	0.062173149661151304	0.06157	0.395795623971	0.40707	0.562058925629	0.47558	T	0.381113	0.74350	T	-0.471124	0.00836	T	-0.447871	0.27933	T	0.0133927743567062	0.00242	T	0.746125	0.53946	T	0.16062127	0.36015	0.23222423	0.48377	0.16062127	0.36014	0.23222423	0.48376	-7.197	0.55460	T	.	.	0.068	0.04806	B	.;.;.	.;.;.	2.383321	0.30594	18.49	0.93789062271410251	0.23751	0.90529	0.51780	D	AEFBI	0.317922	0.42178	N	-0.238463717294922	0.31567	1.771306	-0.00289457022091924	0.39586	2.349295	0.999999331985756	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.78	5.78	0.91418	1.947000	0.39919	6.176000	0.54561	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.099	0.80961	868	0.31772	PI3Kbeta, catalytic domain;PI3Kbeta, catalytic domain;PI3Kbeta, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009577	0.010101	0.005435	0.017544	0.050000	0.008621	0.012270	0.015152	0.07143	197.54	17	chr3	138684790	.	T	C	197.54	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.87;DP=130;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.81;ReadPosRankSum=0.538;SOR=0.61	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1016	6	0	1	0
chr3	140688048	140688048	G	A	exonic	TRIM42	.	nonsynonymous SNV	TRIM42:NM_152616:exon3:c.G1366A:p.G456S	.	417	1078	25	2	0	29	0.0132723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	.	0.0048	0.00638978	0.0037	0.0105	0.0060	0.0001	0.0002	0.0031	0.0088	0.0028	0.0035834	554	154602	rs112034444	0.0024	0.0024	0.0024	0.0025	0.0288	0.0024	0.0023	0.0252	0.0238	0.0114	0.0064	0.0086	0	0.0002	0.0288	0.0017	0.0050	0.0030	0.0055	0.0055	0.0051	0.0059	0.0122	0.0052	0.0051	0.0107	0.0102	0.0103	0	0.0122	0.0084	0	9.439e-05	0.0408	0.0022	0.0085	0.0021	0.455	0.08865	T	0.525	0.10281	T	0.999	0.77913	D	0.818	0.58969	P	0.001630	0.38439	N	0.184523	0.832758	0.34943	D	1.43	0.35840	L	1.23	0.36872	T	0.56	0.02680	N	0.467	0.50327	-1.0851	0.06389	T	0.047	0.20116	T	10	0.0067242086	0.00153	T	.	.	.	0.186	0.46104	.	.	0.455265801863	0.45150	0.5165162350994309	0.51574	0.304077983774	0.32727	0.438456535339	0.30367	T	2.65E-4	0.00060	T	-0.387759	0.02781	T	-0.321804	0.42377	T	0.0360879731912394	0.02997	T	0.817618	0.47476	T	0.05190391	0.09602	0.087241255	0.20267	0.05190391	0.09601	0.087241255	0.20266	-2.38	0.05012	T	.	.	0.152	0.33619	B	.	.	2.876104	0.38048	20.6	0.95045804973693093	0.26056	0.82503	0.41721	D	AEFDI	0.166689	0.29330	N	0.24189076939408	0.53240	3.493742	0.25163332949671	0.52742	3.447057	0.00190099085466403	0.08984	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.63	4.75	0.59954	2.651000	0.46338	8.629000	0.77845	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.018000	0.11154	0.0915:0.0:0.9085:0.0	9.795	0.39896	549	0.72275	COS domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.038268	0.065657	0.055707	0.032164	0.000000	0.034483	0.009146	0.026515	0.07143	2786.49	34	chr3	140688048	.	G	A	2786.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.728;DP=391;ExcessHet=0;FS=1.754;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=-0.701;SOR=0.562	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	6	0	1	0
chr3	141580380	141580380	A	G	exonic	RASA2	.	nonsynonymous SNV	RASA2:NM_001303245:exon16:c.A1603G:p.I535V,RASA2:NM_001303246:exon16:c.A1603G:p.I535V,RASA2:NM_006506:exon16:c.A1603G:p.I535V	.	438	1057	25	2	0	29	0.0135324	.	.	.	246938	RASA2-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.251	.	0.0022	0.00119808	0.0039	9.837e-05	0.0036	0	0.0068	0.0052	0.0121	0.0013	0.0035122	543	154602	rs143035190	0.0028	0.0029	0.0028	0.0029	0.0097	0.0028	0.0027	0.0076	0.0068	0.0002	0.0024	0.0338	0	0.0065	0.0097	0.0021	0.0050	0.0012	0.0028	0.0028	0.0028	0.0028	0.0032	0.0026	0.0025	0.0029	0.0027	0.0001	0	0.0014	0.0317	0	0.0046	0.0136	0.0032	0.0057	0.0004	0.189	0.21224	T	0.287	0.21210	T	.	.	.	.	.	.	0.000486	0.43931	N	0.192775	0.99925	0.21461	N	-1.355	0.00654	N	-1.21	0.78645	T	0.14	0.05706	N	0.05	0.02861	-0.9520	0.40625	T	0.141	0.46016	T	10	0.009313822	0.00210	T	.	.	.	0.251	0.56024	.	.	0.720834276433	0.71837	0.08512166970597988	0.08446	0.28735955413	0.31136	0.356781840324	0.18916	T	0.225418	0.59015	T	-0.497724	0.00589	T	-0.489828	0.23409	T	0.0138142579679833	0.00261	T	0.562444	0.19755	T	.	.	.	.	.	.	.	.	-5.653	0.43273	T	.	.	0.056	0.01075	B	.;.	.;.	0.843316	0.12154	8.700	0.92652581233964948	0.22130	0.86766	0.46118	D	AEBI	0.228217	0.35192	N	-0.569564428806848	0.19873	1.043557	-0.368714823586407	0.25935	1.429393	0.999565081267367	0.40425	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.71	0.78	0.17701	1.225000	0.32154	0.714000	0.20960	-0.055000	0.16736	1.000000	0.71638	0.934000	0.28616	0.997000	0.79791	0.418:0.0:0.336:0.246	4.306	0.10392	744	0.52588	.;Ras GTPase-activating domain|Ras GTPase-activating domain|Ras GTPase-activating domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008569	0.010101	0.012228	0.005848	0.050000	0.017241	0.006135	0.000000	0.07143	522.46	27	chr3	141580380	.	A	G	522.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.227;DP=207;ExcessHet=0;FS=1.216;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.483;SOR=0.986	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1021	6	0	1	0
chr3	141778664	141778664	G	C	exonic	GRK7	.	nonsynonymous SNV	GRK7:NM_139209:exon3:c.G380C:p.S127T	.	421	1089	11	1	0	13	0.00593336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00431302187811	0.0042	0.000599042	0.0040	0.0014	0.0017	0	0.0012	0.0062	0.0068	0.0010	0.0041073	635	154602	rs35318124	0.0055	0.0055	0.0056	0.0053	0.0135	0.0054	0.0053	0.0111	0.0102	0.0013	0.0024	0.0178	0	0.0020	0.0135	0.0060	0.0068	0.0013	0.0036	0.0036	0.0039	0.0033	0.0050	0.0034	0.0033	0.0046	0.0044	0.0012	0.0011	0.0042	0.0176	0	0.0016	0.0034	0.0050	0.0047	0.0004	0.675	0.04495	T	0.52	0.10465	T	0.022	0.18677	B	0.049	0.25116	B	0.001449	0.38980	N	0.284259	0.868171	0.28249	N	1.54	0.38927	L	4.52	0.01997	T	-0.13	0.08971	N	0.091	0.06990	-1.0093	0.27136	T	0.006	0.02093	T	10	0.004140258	0.00082	T	0.004313	0.10467	T	0.089	0.25827	.	.	0.540334051544	0.53686	0.4771172779578371	0.47631	0.313999416157	0.33687	0.472666293383	0.35046	T	0.022254	0.17192	T	-0.589351	0.00169	T	-0.614493	0.11623	T	0.0229154315241003	0.01013	T	0.367463	0.08589	T	0.1107215	0.26170	0.10174392	0.24366	0.1107215	0.26169	0.10174392	0.24366	-4.926	0.36026	T	.	.	0.113	0.22428	B	.	.	1.848664	0.23484	16.04	0.35856320784464352	0.02274	0.88399	0.48309	D	AEFDBI	0.281259	0.39488	N	-0.286827317742857	0.29656	1.646534	-0.194322911155361	0.31745	1.799407	0.133033025625944	0.17128	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.33	4.33	0.51083	4.757000	0.61910	6.888000	0.56832	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.050000	0.15192	0.0:0.0:1.0:0.0	16.859	0.85878	716	0.55970	RGS domain|RGS domain|RGS domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.005051	0.013587	0.014620	0.000000	0.017241	0.012195	0.003788	0.07143	1318.49	37	chr3	141778664	.	G	C	1318.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.657;DP=296;ExcessHet=0;FS=0.722;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-0.538;SOR=0.565	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1023	6	0	1	0
chr3	142553920	142553920	T	C	exonic	ATR	.	nonsynonymous SNV	ATR:NM_001354579:exon10:c.A2245G:p.M749V,ATR:NM_001184:exon11:c.A2437G:p.M813V	Seckel syndrome 1, Autosomal recessive	14	1507	1	0	0	1	0.000331675	.	.	.	1446366	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.174	0.0114197303517	.	.	4.991e-05	0	0.0002	0	0	3.024e-05	0.0011	6.075e-05	3.88e-05	6	154602	rs769648140	6.642e-05	6.704e-05	5.042e-05	8.259e-05	0.0001	5.567e-05	5.158e-05	5.889e-05	5.455e-05	5.986e-05	0.0001	0	0	0	0	7.2e-05	0.0001	2.324e-05	5.912e-05	5.91e-05	8.991e-05	2.689e-05	9.647e-05	3.077e-05	2.21e-05	3.248e-05	1.914e-05	9.647e-05	0	6.544e-05	0	0	0	0	5.879e-05	0	0	0.164	0.23360	T	0.39	0.15506	T	0.325	0.33132	B	0.037	0.23121	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	1.39	0.34934	L	-0.12	0.64630	T	-0.45	0.14782	N	0.418	0.45803	-0.9080	0.47097	T	0.136	0.45106	T	10	0.20255083	0.36378	T	0.01142	0.29027	T	0.174	0.44019	0.331	0.31681	0.871903797169	0.87066	0.5243703655821307	0.52361	0.164037508241	0.18510	0.6144348979	0.54942	T	0.046462	0.27431	T	-0.0371258	0.46373	T	-0.0654033	0.65951	T	0.0457666628062725	0.04740	T	0.834017	0.50309	T	0.34866533	0.56963	0.16261743	0.37765	0.34866533	0.56963	0.16261743	0.37764	-4.043	0.24445	T	.	.	0.147	0.32372	B	.	.	2.412870	0.31014	18.61	0.9800169106782366	0.37483	0.96960	0.71888	D	AEGBI	0.500474	0.53372	D	-0.00370051288581134	0.41687	2.498021	0.180964644173424	0.48804	3.091533	0.999999971383734	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.44	5.44	0.79348	4.334000	0.59076	6.163000	0.54371	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.494	0.75365	608	0.67185	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1469.53	33	chr3	142553920	.	T	C	1469.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.202;DP=284;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=-0.378;SOR=0.67	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	6	0	1	0
chr3	142555898	142555898	T	-	exonic	ATR	.	frameshift deletion	ATR:NM_001354579:exon9:c.2128delA:p.I710Yfs*5,ATR:NM_001184:exon10:c.2320delA:p.I774Yfs*5	Seckel syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	363235	Familial_cutaneous_telangiectasia_and_oropharyngeal_predisposition_cancer_syndrome|Seckel_syndrome_1|not_provided	MONDO:MONDO:0013806,MedGen:C3281203,OMIM:614564,Orphanet:313846|MONDO:MONDO:0008869,MedGen:C4551474,OMIM:210600,Orphanet:808|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	0.0053	0.0030	0.0011	0.0039	0.0002	0.0075	0.0084	0.0030	0.0046377	717	154602	rs757500301	0.0001	0.0036	0.0001	0.0002	0.0009	0.0001	0.0001	0.0007	0.0006	0.0004	0.0009	0.0003	2.727e-05	0.0002	0	8.105e-05	0.0002	0.0005	3.99e-05	0.0001	5.192e-05	2.727e-05	0.0002	1.732e-05	1.141e-05	3.276e-05	1.932e-05	9.765e-05	0	0	0	0	0	0	1.481e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	41.18	54	chr3	142555897	.	AT	A	41.18	.	AC=2;AF=0.143;AN=14;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=20.59;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1021	6	1	0	0
chr3	142555928	142555928	T	C	exonic	ATR	.	nonsynonymous SNV	ATR:NM_001354579:exon9:c.A2098G:p.K700E,ATR:NM_001184:exon10:c.A2290G:p.K764E	Seckel syndrome 1, Autosomal recessive	0	1511	11	0	0	11	0.00362677	.	.	.	167817	not_provided|Seckel_syndrome_1	MedGen:C3661900|MONDO:MONDO:0008869,MedGen:C4551474,OMIM:210600,Orphanet:808	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.215	.	0.0045	0.00199681	0.0033	0.0004	0.0018	0	0.0017	0.0050	0.0066	0.0011	0.0032535	503	154602	rs77208665	0.0047	0.0047	0.0050	0.0044	0.0054	0.0046	0.0046	0.0053	0.0053	0.0006	0.0023	0.0067	0	0.0021	0.0031	0.0054	0.0062	0.0008	0.0034	0.0034	0.0033	0.0034	0.0061	0.0031	0.0030	0.0051	0.0047	0.0007	0	0.0061	0.0052	0	0.0014	0.0034	0.0051	0.0028	0.0015	0.042	0.41637	D	0.021	0.58089	D	0.919	0.50927	P	0.395	0.44317	B	0.009862	0.30165	N	0.311222	0.998222	0.44650	D	1.59	0.40313	L	-0.14	0.65006	T	-1.11	0.28703	N	0.623	0.63798	-1.0098	0.26981	T	0.111	0.39935	T	10	0.009344518	0.00211	T	.	.	.	0.215	0.50805	.	.	0.792939480828	0.79101	0.3362146147416776	0.33534	0.526905215403	0.50308	0.490908294916	0.37565	T	0.076738	0.35490	T	-0.252799	0.13758	T	-0.133709	0.60658	T	0.0107096127492219	0.00151	T	0.887811	0.61653	D	0.36434728	0.58164	0.20110196	0.44074	0.31333968	0.54073	0.18879761	0.42189	-4.008	0.23923	T	.	.	0.164	0.36254	B	.	.	2.711622	0.35441	19.90	0.99745305523242089	0.83852	0.95189	0.63766	D	AEFBI	0.510940	0.53978	D	-0.0307360539605847	0.40468	2.40367	0.00525670510493034	0.39957	2.377221	0.920366960681741	0.26629	0.651	0.46895	0	0.653731	0.59785	0	0.463624	0.06942	0	0.683762	0.67416	0	.	.	5.35	4.16	0.48138	4.137000	0.57773	7.886000	0.72778	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.800000	0.37734	0.0:0.0:0.1399:0.8601	12.490	0.55234	616	0.66398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.001359	0.002924	0.000000	0.008621	0.006135	0.000000	0.07143	791.63	42	chr3	142555928	.	T	C	791.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.93;DP=268;ExcessHet=0;FS=1.918;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=-0.086;SOR=1.032	GT:AD:DP:GQ:PL	0/1:50,32:82:99:802,0,1218	6	0	1	0
chr3	142820955	142820955	A	T	exonic	PCOLCE2	.	stopgain	PCOLCE2:NM_013363:exon8:c.T1040A:p.L347X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	2.09	0.20122	T	0.01	0.06868	N	0.143	0.14338	-1.0532	0.13520	T	0.061	0.25635	T	6	0.37553144	0.53802	T	.	.	.	0.219	0.51417	0.397	0.42426	0.68576314552	0.68307	.	.	.	.	.	.	.	0.011604	0.10331	T	-0.0153502	0.49513	T	-0.259826	0.48841	T	0.995457053184509	0.87455	D	0.226077	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.669	0.71681	P	.;.	.;.	9.152494	0.98539	40	0.99334236761793548	0.59895	0.99395	0.95476	D	AEFBI	0.976366	0.99669	D	0.949390018152874	0.93961	12.40035	0.83787636598892	0.92288	11.34099	0.99999999859307	0.74766	0.626454	0.40138	0	0.627178	0.54094	0	0.80507	0.99327	0	0.530356	0.10902	0	.	.	5.64	5.64	0.86480	8.877000	0.92017	11.206000	0.89223	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	15.843	0.78646	608	0.67185	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	52.44	33	chr3	142820955	.	A	T	52.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.282;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.83;ReadPosRankSum=0.282;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530:.	6	0	1	0
chr3	142963229	142963229	G	C	exonic	PAQR9	.	nonsynonymous SNV	PAQR9:NM_198504:exon1:c.C108G:p.D36E,PAQR9:NM_001375300:exon2:c.C108G:p.D36E,PAQR9:NM_001375301:exon2:c.C108G:p.D36E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00515372560201	.	.	.	.	.	.	.	.	.	.	.	.	.	rs941046772	1.43e-06	1.368e-06	0	2.899e-06	0.0004	2.4e-07	9e-08	6.196e-05	2.56e-05	0	0	0	0	0	0.0004	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.791	0.04181	T	0.0	0.02946	B	0.0	0.01387	B	0.071067	0.02251	N	2.180360	1	0.08975	N	0	0.06538	N	2.11	0.19860	T	0.17	0.05125	N	0.044	0.01658	-0.9876	0.33200	T	0.016	0.06664	T	10	0.047370315	0.04046	T	0.005154	0.13094	T	0.011	0.01250	0.235	0.16457	0.147330786459	0.14319	0.28999020962075867	0.28912	1.0664861996	0.76637	0.75339114666	0.74947	T	0.011433	0.10204	T	-0.376227	0.03290	T	-0.762715	0.03016	T	0.0218611865744941	0.00893	T	0.30387	0.05776	T	0.04118691	0.06020	0.02974732	0.01347	0.04118691	0.06020	0.02974732	0.01347	-2.566	0.06249	T	.	.	0.085	0.10062	B	.	.	0.407841	0.07786	4.477	0.81385274906856653	0.13659	0.04068	0.09521	N	AEFDBHCI	0.066295	0.12975	N	-1.48405691132467	0.01962	0.08616476	-1.48065814440583	0.02503	0.115229	0.999990536658328	0.74766	0.652421	0.48094	0	0.596491	0.49125	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	3.75	-3.88	0.03927	-1.356000	0.02716	0.533000	0.19265	0.650000	0.52971	0.000000	0.06391	0.000000	0.08366	0.137000	0.19835	0.2932:0.4035:0.3032:0.0	5.812	0.17734	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	730.63	32	chr3	142963229	.	G	C	730.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.867;DP=243;ExcessHet=0;FS=0.954;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=-0.608;SOR=0.542	GT:AD:DP:GQ:PL	0/1:45,31:76:99:741,0,1181	6	0	1	0
chr3	146196750	146196750	G	A	exonic	PLSCR4	.	nonsynonymous SNV	PLSCR4:NM_001177304:exon4:c.C353T:p.A118V,PLSCR4:NM_001128306:exon5:c.C398T:p.A133V,PLSCR4:NM_001128305:exon7:c.C668T:p.A223V,PLSCR4:NM_020353:exon7:c.C668T:p.A223V,PLSCR4:NM_001128304:exon9:c.C668T:p.A223V	.	.	.	.	.	.	.	.	.	.	.	2765509	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.120	0.00635104339828	.	0.000399361	0.0003	0.0002	0.0002	0	0	7.546e-05	0	0.0014	0.0002199	34	154602	rs530088310	0.0001	0.0001	6.127e-05	0.0002	0.0014	9.874e-05	9.283e-05	0.0012	0.0011	0.0001	2.239e-05	0	7.557e-05	0	0.0002	2.069e-05	0.0002	0.0014	8.545e-05	8.534e-05	0.0001	6.722e-05	0.0008	4.959e-05	3.964e-05	0.0003	0.0002	9.639e-05	0	0	0	0.0002	0	0	4.412e-05	0.0005	0.0008	0.382	0.30943	T	0.326	0.19660	T	0.835	0.46254	P	0.202	0.36942	B	0.728036	0.09879	N	0.872632	1	0.08975	N	0.55	0.14455	N	1.53	0.30401	T	-0.41	0.41428	N	0.184	0.25130	-1.0722	0.08936	T	0.026	0.10998	T	10	0.017791122	0.00382	T	0.006351	0.16696	T	0.120	0.33359	.	.	0.171388866994	0.16791	0.2040212907904582	0.20319	0.117339012164	0.13225	0.341113090515	0.16605	T	0.001271	0.02014	T	-0.459381	0.00992	T	-0.468023	0.25730	T	0.0238315457891075	0.01124	T	0.381662	0.27241	T	0.067221455	0.14536	0.050460473	0.07925	0.067221455	0.14535	0.050460473	0.07925	-3.148	0.23968	T	.	.	0.104	0.32128	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.333980	0.17395	13.14	0.99584070951639803	0.73218	0.02857	0.07619	N	AEFGBI	0.100446	0.20196	N	-0.683395399569293	0.16495	0.8409094	-0.68270981100655	0.17394	0.9246437	0.999755201675674	0.42595	0.722319	0.85440	0	0.573888	0.26702	0	0.602189	0.34648	0	0.735409	0.98432	0	.	.	5.17	0.867	0.18222	-0.098000	0.10993	-0.157000	0.11360	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.962000	0.52141	0.2638:0.1487:0.2823:0.3053	0.257	0.00198	934	0.15400	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	1371.53	34	chr3	146196750	.	G	A	1371.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.031;DP=342;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.31;ReadPosRankSum=-0.475;SOR=0.683	GT:AD:DP:GQ:PL	0/1:101,64:165:99:1382,0,2430	6	0	1	0
chr3	148741765	148741765	G	T	exonic	AGTR1	.	nonsynonymous SNV	AGTR1:NM_001382736:exon2:c.G730T:p.A244S,AGTR1:NM_009585:exon2:c.G730T:p.A244S,AGTR1:NM_000685:exon3:c.G730T:p.A244S,AGTR1:NM_001382737:exon3:c.G730T:p.A244S,AGTR1:NM_004835:exon3:c.G835T:p.A279S,AGTR1:NM_032049:exon3:c.G817T:p.A273S,AGTR1:NM_031850:exon4:c.G835T:p.A279S	Renal tubular dysgenesis, Autosomal recessive	0	1495	27	0	0	27	0.00894929	.	.	.	697877	Renal_tubular_dysgenesis|Renal_tubular_dysgenesis_of_genetic_origin|not_provided	Human_Phenotype_Ontology:HP:0008660,MONDO:MONDO:0017609,MedGen:C0266313,Orphanet:3033|MONDO:MONDO:0009970,MedGen:C5681536,OMIM:267430,Orphanet:97369|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.203	.	0.0035	0.00259585	0.0041	0.0006	0.0009	0	0.0005	0.0045	0.0067	0.0099	0.0037386	578	154602	rs12721225	0.0039	0.0039	0.0036	0.0042	0.0095	0.0038	0.0038	0.0089	0.0087	0.0004	0.0009	0.0121	0	0.0011	0.0068	0.0037	0.0041	0.0095	0.0026	0.0026	0.0027	0.0025	0.0088	0.0024	0.0023	0.0067	0.0059	0.0007	0	0.0008	0.0135	0	0.0004	0.0136	0.0037	0.0033	0.0088	0.0	0.91255	D	0.028	0.58089	D	0.995	0.67487	D	0.971	0.72444	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.25	0.63811	M	1.35	0.34648	T	-2.45	0.53577	N	0.335	0.39558	-0.7182	0.59551	T	0.179	0.52536	T	10	0.008590668	0.00195	T	.	.	.	0.203	0.48915	.	.	0.76893090584	0.76681	0.41110278085935276	0.41026	.	.	0.634834647179	0.57830	T	0.616481	0.87918	D	-0.258494	0.13077	T	-0.137263	0.60356	T	0.0268276710647454	0.01519	T	0.840916	0.51656	T	0.78755105	0.83120	0.6933731	0.81951	0.86457974	0.88438	0.6971618	0.82167	-4.317	0.28414	T	.	.	0.197	0.43734	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.336420	0.66495	25.0	0.99690017490504323	0.79842	0.99212	0.92884	D	AEFI	0.951920	0.96692	D	0.816296992742933	0.87116	9.107697	0.796776669456628	0.89570	10.02896	0.999999999890723	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.48	5.48	0.80675	6.859000	0.75265	8.655000	0.77949	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.387	0.94551	489	0.76795	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.000000	0.001359	0.002924	0.000000	0.008621	0.018293	0.011364	0.07143	1182.45	33	chr3	148741765	.	G	T	1182.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.122;DP=298;ExcessHet=0;FS=2.505;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-0.953;SOR=0.926	GT:AD:DP:GQ:PL	0/1:57,50:107:99:1193,0,1437	6	0	1	0
chr3	148879794	148879794	G	A	exonic	CPA3	.	nonsynonymous SNV	CPA3:NM_001870:exon6:c.G481A:p.E161K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.0019520983494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.757e-06	1.231e-05	5.494e-06	0	0.0002	6.5e-07	4.4e-07	.	.	0	0	7.691e-05	0	0	0.0002	9.073e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.350655	0.13821	N	0.684650	1	0.08975	N	-2.235	0.00114	N	1.6	0.28604	T	2.62	0.00206	N	0.062	0.03392	-0.9580	0.39552	T	0.012	0.04795	T	10	0.02884978	0.01014	T	0.001952	0.03482	T	0.024	0.04979	0.479	0.55823	0.117506650769	0.11410	0.6124697460701117	0.61178	0.0210895503624	0.02083	0.3176638484	0.13067	T	0.018977	0.15205	T	-0.327003	0.06340	T	-0.707493	0.05425	T	0.031259898096323	0.02188	T	0.185281	0.01921	T	0.046808414	0.07898	0.050538577	0.07953	0.046808414	0.07897	0.050538577	0.07953	-0.268	0.00459	T	.	.	0.057	0.00514	B	.	.	-0.495838	0.01881	0.154	0.60147166380456518	0.06393	0.00322	0.01690	N	AEFBI	0.047053	0.07882	N	-1.6563319588362	0.01008	0.04372266	-1.52696009598093	0.02138	0.09790833	0.32288699856638	0.19402	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.656636	0.63459	0	.	.	4.55	0.89	0.18352	0.229000	0.17614	1.124000	0.24269	-0.092000	0.16129	0.010000	0.18352	0.087000	0.22477	0.032000	0.13371	0.6059:0.0:0.3941:0.0	7.775	0.28195	532	0.73501	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase B, carboxypeptidase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1065.49	33	chr3	148879794	.	G	A	1065.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.496;DP=301;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=0.65;SOR=0.624	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1175	6	0	1	0
chr3	149039192	149039192	T	C	exonic	HLTF	.	nonsynonymous SNV	HLTF:NM_001318934:exon23:c.A2650G:p.M884V,HLTF:NM_001318935:exon23:c.A2653G:p.M885V,HLTF:NM_003071:exon23:c.A2653G:p.M885V,HLTF:NM_139048:exon23:c.A2653G:p.M885V	.	.	.	.	.	.	.	.	.	.	.	2703725	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.402	0.026870596991	.	.	1.835e-05	0.0001	0	0	0	1.693e-05	0	0	1.29e-05	2	154602	rs763512201	1.17e-05	1.163e-05	1.232e-05	1.107e-05	0.0005	7.13e-06	5.83e-06	0.0001	7.591e-05	0.0001	0	0	0	0	0.0005	9.02e-06	0	0	1.314e-05	1.313e-05	2.57e-05	0	6.55e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	6.55e-05	0	0	0	0	0	0	0	0.006	0.61437	D	0.288	0.21277	T	0.828	0.46021	P	0.542	0.48916	P	.	.	.	.	0.988819	0.40833	D	1.15	0.29295	L	-1.1	0.77336	T	-2.02	0.50337	N	0.63	0.64393	-0.3375	0.73916	T	0.312	0.68237	T	9	0.2731846	0.44865	T	0.026871	0.49739	D	0.402	0.71558	.	.	0.70757609158	0.70502	0.6848397408258263	0.68422	0.729934226379	0.62688	0.43113052845	0.29362	T	0.205058	0.66872	T	-0.0564897	0.43455	T	-0.135529	0.60503	T	0.27288337349514	0.23870	T	0.912209	0.75689	D	0.40587944	0.61138	0.3119918	0.57203	0.40587944	0.61138	0.3119918	0.57202	-9.27	0.69419	D	.	.	0.195	0.44758	B	.;.;.;.;.	.;.;.;.;.	3.912832	0.57078	23.8	0.99544314751549845	0.70711	0.93482	0.58337	D	AEFBI	0.580468	0.58086	D	0.181233759580527	0.50298	3.221184	0.334807347854408	0.57597	3.926017	0.99998982575717	0.51787	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.98	5.98	0.97147	3.059000	0.49640	6.124000	0.53825	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.151	0.81438	917	0.20147	Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	540.63	24	chr3	149039192	.	T	C	540.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.986;DP=193;ExcessHet=0;FS=1.222;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=0.037;SOR=0.478	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1088	6	0	1	0
chr3	149140447	149140447	G	C	exonic	HPS3	.	nonsynonymous SNV	HPS3:NM_032383:exon2:c.G661C:p.V221L	Hermansky-Pudlak syndrome 3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.025739431246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.31532	T	0.209	0.26798	T	0.079	0.24468	B	0.028	0.21332	B	0.291479	0.14761	N	0.635484	1	0.08975	N	1.495	0.37439	L	-0.02	0.62918	T	-0.49	0.15578	N	0.235	0.26475	-0.9940	0.31565	T	0.154	0.48412	T	10	0.08933401	0.15465	T	0.025739	0.48694	D	0.031	0.07369	0.24	0.17218	0.609694075345	0.60655	0.2119832897861091	0.21114	0.524358026389	0.50121	0.327225655317	0.14515	T	0.093969	0.39320	T	-0.231716	0.16421	T	-0.570621	0.15393	T	0.0895576784528686	0.11166	T	0.751925	0.37414	T	0.03419477	0.03792	0.046344537	0.06438	0.03419477	0.03791	0.046344537	0.06438	-3.021	0.10409	T	0.15839746414402936	0.19190	0.091	0.13080	B	.	.	1.144967	0.15324	11.76	0.95015166124385597	0.25991	0.18357	0.20227	N	AEFGBI	0.095109	0.19220	N	-0.944638851462693	0.09814	0.4661255	-0.950657822332143	0.10908	0.55243	0.934558233653688	0.27176	0.706298	0.61202	0	0.80507	0.99744	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.46	1.54	0.22290	0.907000	0.28154	1.414000	0.26305	-0.106000	0.15538	0.121000	0.23193	0.667000	0.26046	0.891000	0.42908	0.2675:0.1163:0.6162:0.0	7.592	0.27197	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	61.45	70	chr3	149140447	.	G	C	61.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.904;DP=345;ExcessHet=0;FS=14.575;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=1.95;SOR=3.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:75,0:75:82:.:.:0,82,1548:.	6	0	1	0
chr3	149140448	149140448	T	C	exonic	HPS3	.	nonsynonymous SNV	HPS3:NM_032383:exon2:c.T662C:p.V221A	Hermansky-Pudlak syndrome 3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.020106154274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.07846	T	0.71	0.05525	T	0.007	0.14184	B	0.005	0.11217	B	0.291479	0.14761	N	0.635484	1	0.08975	N	1.15	0.29295	L	-0.01	0.62762	T	-0.56	0.17003	N	0.206	0.22870	-1.0251	0.22050	T	0.127	0.43318	T	10	0.0730125	0.10976	T	0.020106	0.42635	T	0.010	0.01040	0.235	0.16457	0.635043139505	0.63204	0.21613465075128016	0.21529	0.609901705907	0.55697	0.339882075787	0.16420	T	0.07557	0.35209	T	-0.229297	0.16742	T	-0.567146	0.15713	T	0.0724107921123505	0.08986	T	0.622038	0.23930	T	0.03653093	0.04512	0.036526207	0.03116	0.03653093	0.04512	0.036526207	0.03116	-3.486	0.16237	T	0.20305506252380648	0.27024	0.092	0.13644	B	.	.	1.269208	0.16678	12.69	0.6535221764010174	0.07748	0.02627	0.07216	N	AEFGBI	0.048432	0.08264	N	-0.847281579300024	0.12117	0.5886997	-0.831464560497286	0.13733	0.7140629	0.934942468231531	0.27192	0.706298	0.61202	0	0.53679	0.11191	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.46	1.8	0.24069	1.141000	0.31140	0.437000	0.18385	0.665000	0.62972	0.152000	0.23684	0.648000	0.25949	0.877000	0.41881	0.0:0.2908:0.1406:0.5686	5.451	0.15859	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	61.44	41	chr3	149140448	.	T	C	61.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.955;DP=288;ExcessHet=0;FS=14.575;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=1.83;SOR=3.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,99,1485:.	6	0	1	0
chr3	149182037	149182037	G	C	exonic	CP	.	nonsynonymous SNV	CP:NM_000096:exon14:c.C2522G:p.T841R	Cerebellar ataxia, Autosomal recessive;Hemosiderosis, systemic, due to aceruloplasminemia, Autosomal recessive	14	1492	14	2	0	18	0.005996	.	.	YES	269100	Deficiency_of_ferroxidase|not_specified|not_provided|CP-related_disorder	Human_Phenotype_Ontology:HP:0025498,MONDO:MONDO:0011426,MedGen:C0878682,OMIM:604290,Orphanet:48818|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.595	0.115394988911	0.0045	0.00239617	0.0038	0.0017	0.0026	0	0.0003	0.0059	0.0077	0.0007	0.003965	613	154602	rs56033670	0.0051	0.0051	0.0051	0.0051	0.0107	0.0050	0.0050	0.0084	0.0075	0.0011	0.0029	0.0254	2.564e-05	0.0006	0.0107	0.0055	0.0065	0.0006	0.0044	0.0043	0.0048	0.0040	0.0061	0.0041	0.0040	0.0056	0.0054	0.0012	0	0.0040	0.0256	0	0.0005	0.0167	0.0061	0.0094	0.0004	0.384	0.14793	T	0.273	0.22154	T	.	.	.	.	.	.	0.000001	0.62929	D	0.098491	1	0.81001	D	.	.	.	-5.24	0.98905	D	-2.41	0.52938	N	0.876	0.87373	0.910	0.95812	D	0.944	0.98160	D	10	0.005704552	0.00127	T	0.115395	0.79456	D	0.595	0.83911	.	.	0.973571361863	0.97328	0.8483836096817313	0.84799	0.226571706203	0.25209	0.622560977936	0.56090	T	0.659412	0.89761	D	0.140779	0.68398	D	0.437405	0.93250	D	0.0472912464900081	0.05017	T	0.70163	0.31127	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.44042	B	.;.	.;.	3.096584	0.41717	21.4	0.96481343132758246	0.29974	0.99786	0.99456	D	AEFBI	0.967876	0.99036	D	0.677397289954577	0.78149	6.814185	0.675768565559021	0.80542	7.32223	0.999999999994071	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	6.17	6.17	0.99707	5.907000	0.69646	11.781000	0.96113	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.377000	0.26268	0.0:0.0:1.0:0.0	19.060	0.93068	917	0.20147	.;Multicopper oxidase, type 3	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009586	0.010101	0.013587	0.005848	0.050000	0.025862	0.006173	0.003788	0.07143	727.53	36	chr3	149182037	.	G	C	727.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.68;DP=283;ExcessHet=0;FS=8.679;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-1.149;SOR=0.141	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr3	149527888	149527888	T	A	exonic	WWTR1	.	nonsynonymous SNV	WWTR1:NM_001168280:exon5:c.A853T:p.T285S,WWTR1:NM_015472:exon5:c.A853T:p.T285S,WWTR1:NM_001168278:exon6:c.A853T:p.T285S,WWTR1:NM_001348362:exon8:c.A853T:p.T285S	.	427	1016	74	5	0	84	0.0396975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	.	0.0048	0.0195687	0.0145	0.0044	0.0047	0.0013	0.0020	0.0079	0.0088	0.0668	0.0130529	2018	154602	rs28763914	0.0095	0.0095	0.0078	0.0113	0.0648	0.0094	0.0093	0.0633	0.0628	0.0043	0.0057	0.0320	0.0009	0.0018	0.0288	0.0055	0.0118	0.0648	0.0082	0.0083	0.0070	0.0095	0.0685	0.0079	0.0077	0.0624	0.0600	0.0045	0	0.0105	0.0334	0.0012	0.0009	0.0340	0.0061	0.0099	0.0685	1.0	0.00964	T	1.0	0.03945	T	0.0	0.02946	B	0.001	0.04355	B	0.189626	0.16881	N	0.622461	0.945773	0.26651	N	0.405	0.12330	N	1.05	0.39990	T	0.6	0.02853	N	0.277	0.32481	-1.0210	0.23389	T	0.025	0.10866	T	10	0.0015960932	0.00018	T	.	.	.	0.114	0.32008	0.065	0.00293	.	.	0.290718380610075	0.28984	0.42995996695	0.43261	0.481068134308	0.36204	T	0.214331	0.57588	T	-0.644689	0.00078	T	-0.650148	0.08944	T	0.0179148183194432	0.00518	T	0.476852	0.14330	T	0.07942054	0.18144	0.04499123	0.05953	0.07942054	0.18143	0.04499123	0.05953	-4.436	0.30042	T	0.1702844105836142	0.21400	0.074	0.10545	B	.;.;.;.	.;.;.;.	2.307038	0.29529	18.15	0.87434686040373133	0.17225	0.89995	0.50835	D	ALL	0.790365	0.71928	D	-0.400604213907978	0.25447	1.381	-0.180672069225818	0.32247	1.832765	0.999999999898381	0.74766	0.758104	0.99027	0	0.588066	0.40923	0	0.691618	0.62860	0	0.648885	0.59868	0	.	.	5.09	3.92	0.44525	2.685000	0.46626	3.438000	0.38361	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0762:0.1435:0.7804	7.488	0.26617	695	0.58372	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019134	0.000000	0.012228	0.029240	0.000000	0.000000	0.015244	0.041667	0.07143	251.83	30	chr3	149527888	.	T	A	251.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.025;DP=187;ExcessHet=0;FS=1.484;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.39;ReadPosRankSum=-0.127;SOR=0.368	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr3	150562624	150562625	AA	-	exonic	EIF2A	.	frameshift deletion	EIF2A:NM_001319043:exon3:c.181_182del:p.N62Yfs*13,EIF2A:NM_001319044:exon4:c.256_257del:p.N87Yfs*11,EIF2A:NM_001319045:exon4:c.241_242del:p.N82Yfs*13,EIF2A:NM_032025:exon4:c.256_257del:p.N87Yfs*13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2179.4	33	chr3	150562623	.	CAA	C	2179.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.813;DP=297;ExcessHet=0;FS=1.581;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.18;ReadPosRankSum=0.12;SOR=0.518	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1380	6	0	1	0
chr3	151294524	151294524	A	G	exonic	GPR87	.	nonsynonymous SNV	GPR87:NM_023915:exon3:c.T722C:p.I241T	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0110521263515	.	0.000199681	0.0002	0	8.655e-05	0	0	0	0	0.0012	0.0001358	21	154602	rs540566684	7.251e-05	7.251e-05	2.178e-05	0.0001	0.0012	6.114e-05	5.699e-05	0.0010	0.0009	0	0	0	0	0	0	8.993e-07	4.967e-05	0.0012	4.595e-05	4.593e-05	1.285e-05	8.056e-05	0.0015	2.107e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.491	0.07969	T	0.388	0.15602	T	0.081	0.24602	B	0.089	0.29769	B	0.002210	0.37012	N	0.262452	0.974419	0.39103	D	0.46	0.12951	N	1.29	0.35775	T	1.11	0.01213	N	0.387	0.42834	-1.0444	0.16000	T	0.070	0.28642	T	10	0.024006069	0.00646	T	0.011052	0.28270	T	0.051	0.14325	0.352	0.35084	0.299770980665	0.29595	0.40038839274758936	0.39953	0.107033212808	0.12085	0.597344994545	0.52529	T	0.007012	0.06432	T	-0.41384	0.01875	T	-0.431984	0.29710	T	0.0802292603126343	0.10017	T	0.813119	0.46553	T	0.086067736	0.19991	0.13502066	0.32339	0.086067736	0.19990	0.13502066	0.32338	-2.363	0.04911	T	.	.	0.292	0.52376	B	.	.	2.841582	0.37494	20.5	0.97402063897477587	0.33780	0.91020	0.52704	D	AEFBI	0.256425	0.37535	N	-0.160426729813397	0.34793	1.990273	0.0230424908087379	0.40786	2.439794	0.999975352390933	0.50053	0.486886	0.10167	0	0.586423	0.34054	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.45	5.45	0.79688	4.630000	0.60995	11.190000	0.88630	0.750000	0.87069	0.988000	0.36536	1.000000	0.68203	0.986000	0.61781	1.0:0.0:0.0:0.0	15.478	0.75228	807	0.43470	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	3172.44	58	chr3	151294524	.	A	G	3172.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.233;DP=628;ExcessHet=0;FS=7.254;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-1.493;SOR=1.107	GT:AD:DP:GQ:PL	0/0:105,0:105:99:0,120,1800	6	0	1	0
chr3	151438247	151438247	T	C	exonic	IGSF10	.	nonsynonymous SNV	IGSF10:NM_001178145:exon2:c.A251G:p.Y84C,IGSF10:NM_001178146:exon2:c.A251G:p.Y84C,IGSF10:NM_001385061:exon7:c.A6314G:p.Y2105C,IGSF10:NM_001385060:exon8:c.A6314G:p.Y2105C,IGSF10:NM_178822:exon8:c.A6314G:p.Y2105C,IGSF10:NM_001385062:exon9:c.A6314G:p.Y2105C,IGSF10:NM_001385063:exon9:c.A6314G:p.Y2105C	.	431	1082	9	0	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.031979660741	7.7e-05	0.00119808	0.0004	0	0	0	0	7.492e-05	0	0.0030	0.000401	62	154602	rs370277399	0.0002	0.0002	0.0001	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	2.987e-05	4.472e-05	0	0	0	0.0010	2.518e-05	0.0002	0.0022	0.0001	0.0001	3.855e-05	0.0002	0.0031	7.572e-05	6.278e-05	0.0019	0.0015	0	0	6.541e-05	0	0	0	0	2.94e-05	0	0.0031	0.005	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000552	0.43413	D	0.000000	0.999967	0.52935	D	2.07	0.56829	M	1.66	0.27486	T	-8.3	0.96976	D	0.716	0.71854	-0.6328	0.63451	T	0.229	0.59484	T	10	0.04252538	0.03010	T	0.03198	0.53925	D	0.354	0.67510	.	.	0.784285616252	0.78228	0.5531040696629261	0.55236	0.193382323107	0.21670	0.458952844143	0.33167	T	0.159987	0.50365	T	-0.259221	0.12991	T	-0.150367	0.59211	T	0.319364125473647	0.25796	T	0.905809	0.66782	D	0.5023187	0.67231	0.54506105	0.73703	0.5023187	0.67232	0.54506105	0.73703	-9.579	0.71350	D	.	.	0.374	0.58060	A	.	.	4.407560	0.68162	25.2	0.99790570274462997	0.87661	0.97842	0.77538	D	AEFBI	.	.	.	0.752982575431285	0.83101	7.929452	0.71323066993395	0.83384	8.007357	0.9999472780634	0.47345	0.487112	0.14033	0	0.573888	0.26702	0	0.536957	0.11973	0	0.564101	0.26826	0	.	.	5.79	5.79	0.91751	3.751000	0.54882	6.133000	0.53944	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:0.0:1.0	16.131	0.81247	814	0.42100	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	63.44	41	chr3	151438247	.	T	C	63.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.385;DP=255;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=1.44;SOR=0.991	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	6	0	1	0
chr3	151444930	151444930	C	G	exonic	IGSF10	.	nonsynonymous SNV	IGSF10:NM_001385061:exon5:c.G5051C:p.R1684T,IGSF10:NM_001385060:exon6:c.G5051C:p.R1684T,IGSF10:NM_178822:exon6:c.G5051C:p.R1684T,IGSF10:NM_001385062:exon7:c.G5051C:p.R1684T,IGSF10:NM_001385063:exon7:c.G5051C:p.R1684T	.	432	1088	2	0	0	2	0.000918274	.	.	.	1926653	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.632	0.0700473631754	7.7e-05	0.000199681	0.0002	0	8.703e-05	0.0001	0	0.0002	0.0012	0.0008	0.0001876	29	154602	rs149854696	0.0001	0.0001	0.0001	0.0001	0.0011	0.0001	0.0001	0.0005	0.0003	6.112e-05	2.386e-05	0	7.574e-05	0	0.0011	9.836e-05	0.0003	0.0004	8.533e-05	8.53e-05	6.422e-05	0.0001	0.0006	4.952e-05	3.959e-05	0.0002	8.996e-05	2.405e-05	0	0	0	0.0002	0	0	0.0001	0	0.0006	0.007	0.59928	D	0.008	0.67890	D	0.988	0.62325	D	0.932	0.66722	D	0.007439	0.31401	N	0.131561	0.992473	0.41655	D	1.145	0.29067	L	-1.34	0.79944	T	-4.2	0.75695	D	0.688	0.69387	0.006	0.82381	D	0.510	0.81594	D	10	0.4827483	0.60528	T	0.070047	0.70898	D	0.632	0.85872	.	.	0.906709791018	0.90577	0.7328133840573781	0.73226	0.195874411988	0.21946	0.360935628414	0.19522	T	0.147432	0.48552	T	-0.127947	0.31827	T	-0.0280496	0.68498	D	0.284865409135818	0.24375	T	0.777022	0.40965	T	0.22781971	0.45489	0.20458965	0.44590	0.22781971	0.45489	0.20458965	0.44589	-6.565	0.50785	T	.	.	0.206	0.43200	B	.	.	3.345280	0.46112	22.2	0.98367728546121269	0.40719	0.96101	0.67537	D	AEFBI	0.621162	0.60595	D	0.440931827933361	0.63691	4.607726	0.437148944297574	0.63895	4.632735	0.999997732116518	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.86	4.99	0.65942	2.092000	0.41326	1.092000	0.23989	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.899000	0.43558	0.0:0.7187:0.0:0.2813	7.173	0.24905	813	0.42397	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	153.53	31	chr3	151444930	.	C	G	153.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.721;DP=198;ExcessHet=0;FS=4.043;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.14;ReadPosRankSum=1.65;SOR=0.193	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1040	6	0	1	0
chr3	151445827	151445827	G	C	exonic	IGSF10	.	stopgain	IGSF10:NM_001385061:exon5:c.C4154G:p.S1385X,IGSF10:NM_001385060:exon6:c.C4154G:p.S1385X,IGSF10:NM_178822:exon6:c.C4154G:p.S1385X,IGSF10:NM_001385062:exon7:c.C4154G:p.S1385X,IGSF10:NM_001385063:exon7:c.C4154G:p.S1385X	.	425	1096	1	0	0	1	0.000455996	.	.	.	3518012	IGSF10-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0	0	0.0011	0.0001164	18	154602	rs770578800	7.251e-05	7.251e-05	2.042e-05	0.0001	0.0012	6.114e-05	5.699e-05	0.0010	0.0009	0	0	0	0	0	0	0	4.967e-05	0.0012	3.939e-05	3.937e-05	1.285e-05	6.712e-05	0.0010	1.714e-05	1.129e-05	0.0004	0.0003	0	0	6.533e-05	0	0	0	0	0	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.411504	0.04594	N	1.455400	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.043	0.01577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0812892	0.62192	D	0.279235	0.87083	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.322526	0.95013	34	0.98676036382946131	0.44539	0.15335	0.18861	N	AEFDBI	0.060646	0.11540	N	0.103923432569624	0.46644	2.90174	-0.230491063214677	0.30449	1.714542	0.999771979132948	0.42865	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.478617	0.07155	0	.	.	5.34	2.1	0.26226	1.148000	0.31226	2.652000	0.33822	0.618000	0.50648	0.001000	0.13787	0.086000	0.22461	0.008000	0.08271	0.3184:0.0:0.6816:0.0	8.806	0.34095	813	0.42397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	2422.45	33	chr3	151445827	.	G	C	2422.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.141;DP=359;ExcessHet=0;FS=7.596;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=-1.249;SOR=0.947	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1040	6	0	1	0
chr3	151447453	151447453	G	C	exonic	IGSF10	.	nonsynonymous SNV	IGSF10:NM_001385061:exon5:c.C2528G:p.S843C,IGSF10:NM_001385060:exon6:c.C2528G:p.S843C,IGSF10:NM_178822:exon6:c.C2528G:p.S843C,IGSF10:NM_001385062:exon7:c.C2528G:p.S843C,IGSF10:NM_001385063:exon7:c.C2528G:p.S843C	.	430	1083	9	0	0	9	0.00413793	.	.	.	1602058	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.174	0.0323434893407	0.0009	0.000399361	0.0012	0	0.0008	0	0.0024	0.0011	0.0033	0.0022	0.0010673	165	154602	rs142202060	0.0014	0.0014	0.0013	0.0015	0.0025	0.0013	0.0013	0.0022	0.0021	0.0002	0.0008	0	7.557e-05	0.0019	0.0014	0.0014	0.0011	0.0025	0.0012	0.0012	0.0012	0.0012	0.0018	0.0011	0.0010	0.0016	0.0015	0.0002	0	0.0014	0	0	0.0020	0.0034	0.0018	0.0009	0.0010	0.005	0.63226	D	0.043	0.49942	D	0.994	0.66517	D	0.667	0.53020	P	0.060946	0.22209	N	0.325505	1	0.08975	N	1.1	0.28011	L	-0.4	0.69287	T	-2.82	0.59545	D	0.363	0.40465	-0.9698	0.37242	T	0.163	0.49897	T	10	0.020431757	0.00471	T	0.032343	0.54198	D	0.174	0.44019	.	.	0.708633667434	0.70609	0.1375110502223292	0.13675	0.15508453664	0.17514	0.280481725931	0.07559	T	0.012067	0.10668	T	-0.372885	0.03451	T	-0.314257	0.43199	T	0.0339348243345921	0.02626	T	0.446155	0.12501	T	0.1270791	0.29748	0.12274849	0.29606	0.1270791	0.29747	0.12274849	0.29606	-8.749	0.66067	D	.	.	0.130	0.27998	B	.	.	2.701816	0.35291	19.86	0.97995658646431738	0.37438	0.32221	0.24532	N	AEFBI	0.211266	0.33707	N	-0.339149814708689	0.27672	1.52018	-0.424555262797439	0.24279	1.328647	0.942996863909291	0.27548	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.31	3.16	0.35406	0.477000	0.21906	3.767000	0.39740	0.618000	0.50648	0.028000	0.20300	1.000000	0.68203	0.182000	0.21359	0.3427:0.0:0.6573:0.0	6.957	0.23754	813	0.42397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.005051	0.001359	0.000000	0.000000	0.008621	0.000000	0.015152	0.07143	1793.49	126	chr3	151447453	.	G	C	1793.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.234;DP=376;ExcessHet=0;FS=0.674;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=0.052;SOR=0.578	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1040	6	0	1	0
chr3	151740838	151740838	C	G	exonic	AADACL2	.	nonsynonymous SNV	AADACL2:NM_207365:exon2:c.C331G:p.H111D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.581	0.0155683596554	0.0003	0.000199681	0.0003	9.612e-05	8.655e-05	0	0	0.0006	0	6.058e-05	0.0003299	51	154602	rs34754709	0.0003	0.0003	0.0003	0.0003	0.0012	0.0003	0.0002	0.0006	0.0004	2.988e-05	0.0001	0.0066	0	0	0.0012	0.0002	0.0007	5.798e-05	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	4.815e-05	0	6.539e-05	0.0052	0	0	0	0.0002	0	0.0002	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.55	0.99125	H	1.19	0.37578	T	-8.48	0.97265	D	0.843	0.83885	-0.0287	0.81658	T	0.357	0.71920	T	10	0.08169258	0.13402	T	0.015568	0.36375	T	0.581	0.83137	.	.	0.260249123532	0.25628	0.8753184310726537	0.87498	0.448811800939	0.44695	0.683025896549	0.64702	T	0.367595	0.73264	T	0.0538513	0.58838	T	0.134412	0.79180	D	0.63707560300827	0.37913	D	.	.	.	0.9388333	0.95128	0.9241464	0.96688	0.9388333	0.95128	0.9241464	0.96689	-11.575	0.82719	D	.	.	0.846	0.79542	P	.	.	4.258901	0.64710	24.7	0.99214727275779113	0.55716	0.92449	0.55738	D	AEFDBI	0.349510	0.44327	N	0.648890360149801	0.76297	6.460545	0.4605168696825	0.65396	4.818356	0.9808707316354	0.30188	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.25	4.35	0.51454	3.941000	0.56317	3.698000	0.39517	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.9122:0.0:0.0878	12.095	0.53050	868	0.31772	Alpha/beta hydrolase fold-3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	714.27	16	chr3	151740838	.	C	G	714.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.668;DP=173;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-2.07;SOR=0.846	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,912	5	0	1	1
chr3	151744132	151744132	A	G	exonic	AADACL2	.	nonsynonymous SNV	AADACL2:NM_207365:exon3:c.A401G:p.N134S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00163236413281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.17296	T	0.455	0.12776	T	0.167	0.28604	B	0.081	0.28987	B	0.619467	0.10791	N	0.842861	1	0.08975	N	1.1	0.28011	L	2.84	0.10674	T	-2.38	0.52451	N	0.095	0.07535	-0.9521	0.40608	T	0.020	0.08266	T	10	0.081477314	0.13341	T	0.001632	0.02651	T	0.018	0.03083	0.341	0.33302	0.0297737177859	0.01360	0.12220961315704464	0.12147	0.0601548666932	0.06689	0.322019159794	0.13727	T	0.081288	0.36561	T	-0.396114	0.02455	T	-0.806767	0.01739	T	0.0772095225447256	0.09627	T	.	.	.	0.07222753	0.16050	0.0794341	0.17880	0.07222753	0.16049	0.0794341	0.17880	-2.733	0.07584	T	.	.	0.078	0.06849	B	.	.	0.871084	0.12438	8.973	0.53227821042599344	0.04898	0.04294	0.09839	N	AEFDGBIJ	0.061380	0.11730	N	-0.980026831680985	0.09030	0.4257508	-1.01314085315125	0.09496	0.4727586	0.994589010518123	0.33706	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.662026	0.63922	0	.	.	5.18	-0.117	0.12891	-0.136000	0.10384	0.536000	0.19291	-0.095000	0.16041	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.513:0.1337:0.2242:0.1291	1.508	0.02340	866	0.32446	Alpha/beta hydrolase fold-3	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	64.44	34	chr3	151744132	.	A	G	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=1.65;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1130:.	6	0	1	0
chr3	154122017	154122017	T	A	exonic	ARHGEF26	.	nonsynonymous SNV	ARHGEF26:NM_001251962:exon2:c.T25A:p.F9I,ARHGEF26:NM_001251963:exon2:c.T25A:p.F9I,ARHGEF26:NM_015595:exon2:c.T25A:p.F9I	.	427	1033	57	5	0	67	0.0314112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0067	0.00738818	0.0098	0.0017	0.0036	0	0.0062	0.0101	0.0129	0.0262	0.0091267	1411	154602	rs139430962	0.0097	0.0097	0.0091	0.0104	0.0245	0.0096	0.0095	0.0237	0.0233	0.0012	0.0043	0.0010	5.11e-05	0.0066	0.0212	0.0097	0.0089	0.0245	0.0067	0.0067	0.0064	0.0070	0.0278	0.0064	0.0062	0.0240	0.0225	0.0013	0.0011	0.0061	0.0020	0.0002	0.0045	0.0136	0.0098	0.0076	0.0278	0.0	0.91255	D	0.096	0.52060	T	0.001	0.07471	B	0.001	0.04355	B	0.000190	0.48115	D	0.140928	0.558637	0.32194	D	1.78	0.46185	L	0.23	0.64630	T	-0.91	0.30762	N	0.233	0.38438	-1.0122	0.26228	T	0.071	0.28871	T	10	0.003982842	0.00077	T	.	.	.	0.024	0.04979	.	.	0.459818148978	0.45609	0.13923310431093144	0.13846	0.121683234402	0.13713	0.574688792229	0.49339	T	0.002676	0.02065	T	-0.420583	0.01696	T	-0.359329	0.38131	T	0.0941204471095192	0.11697	T	0.592841	0.22456	T	0.54745376	0.69814	0.28995273	0.55016	0.54745376	0.69815	0.28995273	0.55015	-3.511	0.16600	T	.	.	0.076	0.37159	B	.;.;.;.	.;.;.;.	2.139647	0.27245	17.40	0.98046948600260686	0.37835	0.71905	0.35217	D	AEFDGBCIJ	0.150255	0.27451	N	-0.463189237740392	0.23295	1.249935	-0.320018905430494	0.27452	1.523414	0.999999999235656	0.74766	0.72623	0.87236	0	0.596491	0.49125	0	0.594344	0.31042	0	0.618803	0.45993	0	.	.	4.79	2.38	0.28415	0.882000	0.27824	-0.375000	0.09580	0.665000	0.62972	0.997000	0.40164	0.000000	0.08366	0.967000	0.53440	0.1533:0.0862:0.0:0.7605	5.602	0.16638	758	0.50837	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019134	0.010101	0.010870	0.011696	0.000000	0.025862	0.039634	0.034091	0.07143	63.44	43	chr3	154122017	.	T	A	63.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.524;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.524;SOR=1.179	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	6	0	1	0
chr3	155763665	155763665	G	T	exonic	C3orf33	.	nonsynonymous SNV	C3orf33:NM_001308229:exon5:c.C737A:p.T246K,C3orf33:NM_173657:exon6:c.C608A:p.T203K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00481951629936	0.0002	.	0.0002	0.0002	0.0003	0	0	0.0003	0	0	0.0001746	27	154602	rs201584610	0.0002	0.0002	0.0002	0.0002	0.0040	0.0002	0.0002	0.0028	0.0023	0.0002	0.0007	3.929e-05	0	0	0.0040	0.0002	0.0002	4.965e-05	0.0003	0.0003	0.0003	0.0004	0.0017	0.0002	0.0002	0.0012	0.0010	0.0001	0	0.0017	0	0	0	0.0032	0.0002	0.0005	0	0.045	0.41637	D	0.534	0.10354	T	0.034	0.20480	B	0.04	0.23831	B	0.295847	0.03924	N	1.498850	1	0.08975	N	1.525	0.38595	L	1.03	0.40469	T	-0.84	0.22944	N	0.122	0.11340	-0.9937	0.31643	T	0.073	0.29707	T	10	0.026310086	0.00800	T	0.00482	0.12066	T	0.055	0.15663	.	.	0.188950314367	0.18478	0.13022107770848776	0.12947	0.176979797183	0.19917	.	.	.	0.001129	0.00635	T	-0.60717	0.00132	T	-0.6426	0.09482	T	0.00968865749001455	0.00127	T	0.623338	0.24021	T	0.08261384	0.19039	0.086538844	0.20057	0.08261384	0.19039	0.086538844	0.20057	-2.538	0.06046	T	.	.	0.087	0.11414	B	.;.	.;.	0.163220	0.05536	1.995	0.71641786794433948	0.09698	0.03076	0.07990	N	AEFI	0.057922	0.10829	N	-1.09961387046809	0.06651	0.30676	-1.2090080964536	0.05764	0.275574	0.159634607634042	0.17572	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.6	-5.06	0.02725	-0.409000	0.07223	-0.422000	0.09278	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.850000	0.40195	0.1455:0.1292:0.5962:0.129	4.925	0.13239	850	0.35610	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004036	0.000000	0.005435	0.008772	0.000000	0.000000	0.000000	0.003788	0.08333	333.23	33	chr3	155763665	.	G	T	333.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.794;DP=231;ExcessHet=0;FS=1.076;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.85;ReadPosRankSum=-0.507;SOR=0.866	GT:AD:DP:GQ:PL	0/1:39,18:57:99:343,0,1113	5	0	1	1
chr3	155853645	155853645	G	C	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353G:p.P118R,SLC33A1:NM_001363883:exon1:c.C353G:p.P118R,SLC33A1:NM_004733:exon1:c.C353G:p.P118R	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1016191	Hereditary_spastic_paraplegia_42	MONDO:MONDO:0012928,MedGen:C2675528,OMIM:612539,Orphanet:171863	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.936	0.221168805032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0016	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0009	0	0.0003	0.0002	0	0.0002	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-8.72	0.97670	D	0.955	0.96416	0.779	0.94149	D	0.787	0.92761	D	10	0.9656291	0.96041	D	0.221169	0.87793	D	0.936	0.98563	0.852	0.95318	0.981310105081	0.98110	0.9652344313428964	0.96510	2.3006740423	0.96469	0.845638930798	0.88955	D	0.814515	0.95400	D	0.434482	0.91756	D	0.386327	0.91654	D	0.999483108520508	0.97590	D	0.999658	0.99877	D	0.97771263	0.98930	0.9704348	0.99484	0.97771263	0.98930	0.9704348	0.99484	-15.861	0.97545	D	0.9924786288168476	0.99821	0.997	0.97160	P	.;.;.;.	.;.;.;.	5.657968	0.92855	33	0.99869421297510097	0.94726	0.91924	0.54558	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1059.78	58	chr3	155853645	.	G	C	1059.78	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-3.254;DP=580;ExcessHet=8.2628;FS=227.99;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=2.03;ReadPosRankSum=1.61;SOR=9.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,29:136:99:0|1:155853644_G_C:228,0,3777:155853644	3	0	4	0
chr3	155853645	155853645	G	A	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353T:p.P118L,SLC33A1:NM_001363883:exon1:c.C353T:p.P118L,SLC33A1:NM_004733:exon1:c.C353T:p.P118L	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2825036	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.916	0.180330631785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-9.7	0.98602	D	0.933	0.93841	0.779	0.94149	D	0.787	0.92761	D	10	0.9592407	0.95314	D	0.180331	0.85482	D	0.916	0.97814	0.831	0.94042	0.971361032142	0.97104	0.9490389787202539	0.94886	2.26454559714	0.96209	0.848731040955	0.89423	D	0.814515	0.95400	D	0.434457	0.91756	D	0.386291	0.91653	D	0.999908089637756	0.99629	D	0.999721	0.99933	D	0.9729656	0.98529	0.93255115	0.97270	0.9729656	0.98529	0.93255115	0.97270	-13.696	0.92027	D	0.9927983798285628	0.99830	0.978	0.91951	P	.;.;.;.	.;.;.;.	5.608546	0.92513	32	0.9991421996857478	0.98309	0.83916	0.43007	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1059.78	58	chr3	155853645	.	G	A	1059.78	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-3.254;DP=580;ExcessHet=8.2628;FS=227.99;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=2.03;ReadPosRankSum=1.61;SOR=9.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:107,0:136:99:0|1:155853644_G_C:228,547,4406:155853644	5	0	2	0
chr3	155853646	155853646	G	A	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C352T:p.P118S,SLC33A1:NM_001363883:exon1:c.C352T:p.P118S,SLC33A1:NM_004733:exon1:c.C352T:p.P118S	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.884	0.26441884066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	3.19	0.88972	M	-1.38	0.80301	T	-7.83	0.96005	D	0.908	0.90932	0.736	0.93619	D	0.747	0.91359	D	10	0.9726635	0.96917	D	0.264419	0.89636	D	0.884	0.96614	0.878	0.96734	0.965889320013	0.96552	0.9090685925036052	0.90880	2.253141148	0.96121	0.804085373878	0.82587	D	0.791811	0.94599	D	0.429981	0.91531	D	0.379861	0.91426	D	0.999662041664124	0.98390	D	0.999705	0.99908	D	0.9068161	0.92000	0.9047807	0.95316	0.9068161	0.92001	0.9047807	0.95317	-12.527	0.87323	D	0.973445658806593	0.99205	0.989	0.94165	P	.;.;.;.	.;.;.;.	5.407850	0.90534	31	0.99921391491893274	0.98787	0.94332	0.60828	D	AEFDBCI	.	.	.	0.924929507467059	0.92926	11.71334	0.845487219852171	0.92750	11.60935	0.999999999962498	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	4.67	0.58089	9.628000	0.97812	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.1307:0.8693:0.0	16.551	0.84321	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	217.53	42	chr3	155853646	.	G	A	217.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.443;DP=379;ExcessHet=0;FS=91.536;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.6;ReadPosRankSum=0.157;SOR=6.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,29:136:99:0|1:155853644_G_C:228,0,3777:155853644	6	0	1	0
chr3	157317132	157317132	C	T	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon10:c.G1805A:p.S602N,VEPH1:NM_001167912:exon10:c.G1805A:p.S602N,VEPH1:NM_024621:exon10:c.G1805A:p.S602N	.	434	1085	2	1	0	4	0.00183993	.	.	.	2372690	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.105	0.00650614187619	0.0004	0.000998403	0.0008	0.0003	0.0011	0	0	0.0009	0.0022	0.0010	0.000718	111	154602	rs145883418	0.0009	0.0009	0.0009	0.0009	0.0061	0.0008	0.0008	0.0045	0.0039	0.0002	0.0006	0.0002	0	1.872e-05	0.0061	0.0010	0.0009	0.0009	0.0008	0.0008	0.0007	0.0009	0.0030	0.0007	0.0007	0.0023	0.0021	0.0002	0	0.0030	0	0	0	0.0034	0.0009	0.0038	0	0.15	0.30375	T	0.013	0.63109	D	0.663	0.40973	P	0.259	0.39405	B	0.000001	0.84330	D	0.094038	0.992968	0.41795	D	2.155	0.60227	M	2.88	0.10291	T	-1.32	0.32991	N	0.484	0.51851	-1.1407	0.01332	T	0.039	0.16763	T	10	0.02150172	0.00516	T	0.006506	0.17129	T	0.105	0.29889	.	.	0.434160288164	0.43035	0.36131286212140085	0.36045	0.245885684845	0.27115	0.663511872292	0.61912	T	0.091786	0.38869	T	-0.503297	0.00548	T	-0.552075	0.17126	T	0.0425766333937645	0.04160	T	0.860314	0.61435	D	0.23722395	0.46583	0.20500022	0.44649	0.23722395	0.46583	0.20500022	0.44648	-4.772	0.45741	T	.	.	0.580	0.68061	P	.;.;.	.;.;.	3.811983	0.54986	23.6	0.99454242581509678	0.65427	0.94996	0.63061	D	AEFGI	0.753397	0.69360	D	0.352966854670824	0.58896	4.064811	0.459776512759529	0.65347	4.812332	0.999610039122981	0.40981	0.706298	0.61202	0	0.573888	0.26702	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.6	5.6	0.84997	5.563000	0.67055	7.607000	0.61769	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.390	0.90424	846	0.36215	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.1429	295.21	33	chr3	157317132	.	C	T	295.21	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.35;DP=216;ExcessHet=0;FS=3.358;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=22.71;ReadPosRankSum=-1.474;SOR=0.707	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1155	6	1	0	0
chr3	157381264	157381264	G	T	exonic	VEPH1	.	stopgain	VEPH1:NM_001167911:exon7:c.C1019A:p.S340X,VEPH1:NM_001167912:exon7:c.C1019A:p.S340X,VEPH1:NM_024621:exon7:c.C1019A:p.S340X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077056	0.21127	N	0.536026	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.212	0.25499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.522349	0.94964	D	0.512542	0.94890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;Recessive	.;High;High	7.907146	0.96979	36	0.99560495909816416	0.71769	0.77190	0.37926	D	AEFDBI	0.202413	0.32901	N	0.528693511246085	0.68793	5.266472	0.35345361814106	0.58716	4.043839	0.974007135570526	0.29504	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.29	3.46	0.38718	1.002000	0.29397	7.297000	0.58075	0.676000	0.76740	0.973000	0.34540	1.000000	0.68203	0.902000	0.43815	0.0:0.5502:0.4498:0.0	15.561	0.75984	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	128.93	34	chr3	157381264	.	G	T	128.93	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-8.278;DP=381;ExcessHet=0;FS=73.67;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.68;ReadPosRankSum=1.92;SOR=6.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1336:.	6	0	1	0
chr3	157381266	157381267	GG	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167911:exon7:c.1016_1017del:p.S339Ffs*22,VEPH1:NM_001167912:exon7:c.1016_1017del:p.S339Ffs*22,VEPH1:NM_024621:exon7:c.1016_1017del:p.S339Ffs*22	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	96.5	34	chr3	157381265	.	AGG	A	96.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.21;DP=506;ExcessHet=0;FS=61.596;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=-0.468;SOR=5.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1336:.	6	0	1	0
chr3	157381266	157381266	G	0	exonic	VEPH1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	124.08	117	chr3	157381266	.	G	*	124.08	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.861;DP=709;ExcessHet=0.4139;FS=134.766;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.34;ReadPosRankSum=1.83;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1336:.	5	0	1	1
chr3	157381267	157381267	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1016G:p.S339C,VEPH1:NM_001167912:exon7:c.C1016G:p.S339C,VEPH1:NM_024621:exon7:c.C1016G:p.S339C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00405651869442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.706e-05	0.0015	3.271e-05	2.14e-05	3.398e-05	2.012e-05	1.762e-05	2.487e-05	2.207e-05	3.089e-05	0	0	0	0	0	3.398e-05	1.71e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.094	0.39799	T	0.016	0.17332	B	0.006	0.12133	B	0.007582	0.31308	N	0.359250	0.787702	0.29261	N	1.43	0.35840	L	3.01	0.09075	T	-1.91	0.46337	N	0.318	0.36674	-1.0854	0.06335	T	0.025	0.10464	T	10	0.14302394	0.27159	T	0.004057	0.09681	T	0.047	0.12962	0.413	0.45052	0.203808441222	0.19973	0.21481885595038	0.21397	0.0389899136919	0.04147	0.438936650753	0.30431	T	0.149031	0.48786	T	-0.240838	0.15241	T	-0.583723	0.14213	T	0.213982076796247	0.21159	T	0.79972	0.44511	T	0.09153386	0.21449	0.07893088	0.17725	0.09153386	0.21449	0.07893088	0.17725	-7.287	0.56309	T	.	.	0.085	0.11269	B	.;.;.	.;.;.	3.162719	0.42862	21.6	0.91500678835389826	0.20774	0.88574	0.48565	D	AEFDBI	0.301950	0.41033	N	-0.0840343711138489	0.38093	2.225797	0.083874411417393	0.43736	2.669398	0.99938992129566	0.39415	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	1.981000	0.40250	9.905000	0.82381	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.848000	0.40082	0.0:0.1414:0.7122:0.1463	10.655	0.44865	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	129.32	106	chr3	157381267	.	G	C	129.32	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-4.274;DP=817;ExcessHet=0.4139;FS=134.977;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=1.87;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:162,0:162:81:.:.:0,81,3385:.	2	0	1	4
chr3	157381267	157381267	G	0	exonic	VEPH1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	129.32	106	chr3	157381267	.	G	*	129.32	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-4.274;DP=817;ExcessHet=0.4139;FS=134.977;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=1.87;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:162,0:162:81:.:.:0,81,3385:.	2	0	1	4
chr3	157381269	157381269	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1014G:p.F338L,VEPH1:NM_001167912:exon7:c.C1014G:p.F338L,VEPH1:NM_024621:exon7:c.C1014G:p.F338L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.00696849747109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.197e-05	0.0013	1.98e-05	2.414e-05	2.814e-05	1.574e-05	1.372e-05	1.996e-05	1.733e-05	0	0	0	0	0	0	2.814e-05	1.703e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.075	0.43344	T	0.986	0.61523	D	0.716	0.54713	P	0.000000	0.84330	D	0.052188	0.999883	0.50402	D	1.79	0.46772	L	2.8	0.11082	T	-2.64	0.60827	D	0.629	0.64308	-1.1573	0.00823	T	0.050	0.21300	T	10	0.65501356	0.69822	D	0.006968	0.18458	T	0.234	0.53644	0.566	0.68768	0.380052290102	0.37618	0.540766503490007	0.54001	0.0497134926514	0.05451	0.693336129189	0.66186	T	0.39328	0.75273	T	-0.0694684	0.41412	T	-0.337563	0.40622	T	0.937143862247467	0.60670	D	0.890411	0.63503	D	0.3446262	0.56645	0.22055541	0.46835	0.3446262	0.56645	0.22055541	0.46834	-10.426	0.76421	D	.	.	0.981	0.91639	P	.;.;.	.;.;.	4.365249	0.67160	25.1	0.99181655721304818	0.54701	0.98496	0.83394	D	AEFDBI	0.895770	0.83615	D	0.298767961957114	0.56086	3.772896	0.29353445057777	0.55160	3.679457	0.999999819584022	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	4.6	0.56512	7.371000	0.78858	5.894000	0.50799	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	0.0755:0.0:0.9245:0.0	13.320	0.59864	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	236.14	110	chr3	157381269	.	G	C	236.14	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-5.453;DP=818;ExcessHet=0.4139;FS=134.905;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=1.96;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:163,0:163:99:.:.:0,120,1800:.	4	0	1	2
chr3	157381272	157381275	GGTG	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167911:exon7:c.1008_1011del:p.T337Sfs*15,VEPH1:NM_001167912:exon7:c.1008_1011del:p.T337Sfs*15,VEPH1:NM_024621:exon7:c.1008_1011del:p.T337Sfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	0.0002	1.363e-06	2.754e-06	2.702e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	104.5	145	chr3	157381271	.	AGGTG	A	104.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-6.835;DP=921;ExcessHet=0;FS=58.729;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.6;ReadPosRankSum=-0.731;SOR=5.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:163,0:163:99:.:.:0,120,1800:.	6	0	1	0
chr3	157381272	157381272	G	0	exonic	VEPH1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	132.32	102	chr3	157381272	.	G	*	132.32	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-3.565;DP=803;ExcessHet=0.4139;FS=133.613;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=2.14;SOR=7.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:160,0:160:74:.:.:0,74,2979:.	2	0	1	4
chr3	157381273	157381273	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1010G:p.T337S,VEPH1:NM_001167912:exon7:c.C1010G:p.T337S,VEPH1:NM_024621:exon7:c.C1010G:p.T337S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00350531858902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.747e-05	0.0022	5.293e-05	4.212e-05	5.704e-05	3.724e-05	3.405e-05	4.408e-05	3.984e-05	3.467e-05	0	0	0	1.905e-05	0	5.704e-05	7.641e-05	1.223e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	0.09458	T	0.224	0.25907	T	0.001	0.07471	B	0.004	0.10090	B	0.068245	0.21685	N	0.513806	0.999999	0.08975	N	0.97	0.24054	L	1.23	0.36872	T	-0.91	0.24676	N	0.15	0.15328	-1.0676	0.09948	T	0.080	0.31705	T	10	0.15599683	0.29389	T	0.003505	0.07939	T	0.040	0.10527	0.225	0.14960	0.180583059064	0.17676	0.10228205871346645	0.10158	0.0361008489801	0.03815	0.28724116087	0.08522	T	0.044067	0.26699	T	-0.281228	0.10538	T	-0.641741	0.09542	T	0.1442781239748	0.16639	T	0.614539	0.23442	T	0.035869364	0.04304	0.04799097	0.07034	0.035869364	0.04303	0.04799097	0.07033	-4.648	0.32769	T	.	.	0.105	0.20430	B	.;.;.	.;.;.	1.456503	0.18780	13.92	0.62458372572789278	0.06968	0.32891	0.24695	N	AEFDBI	0.174348	0.30148	N	-0.672997241274589	0.16794	0.8587321	-0.590103442945406	0.19750	1.061081	0.998887147635486	0.37891	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	4.59	0.56297	2.485000	0.44909	4.424000	0.43326	-0.153000	0.12021	0.445000	0.26527	0.993000	0.31925	0.780000	0.36908	0.0:0.1397:0.8603:0.0	15.381	0.74372	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	126.32	102	chr3	157381273	.	G	C	126.32	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-5.425;DP=804;ExcessHet=0.4139;FS=129.894;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=2.16;SOR=7.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:159,0:159:99:.:.:0,120,1800:.	2	0	1	4
chr3	157381273	157381273	G	0	exonic	VEPH1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	126.32	102	chr3	157381273	.	G	*	126.32	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-5.425;DP=804;ExcessHet=0.4139;FS=129.894;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=2.16;SOR=7.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:159,0:159:99:.:.:0,120,1800:.	2	0	1	4
chr3	157381275	157381275	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1008G:p.D336E,VEPH1:NM_001167912:exon7:c.C1008G:p.D336E,VEPH1:NM_024621:exon7:c.C1008G:p.D336E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.00635440847357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.135e-06	0.0002	5.489e-06	2.769e-06	5.444e-06	1.49e-06	9.8e-07	1.96e-06	1.29e-06	0	0	0	0	0	0	5.444e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.25873	T	0.051	0.47828	T	0.037	0.20876	B	0.039	0.23607	B	0.000027	0.55875	N	0.155307	0.610768	0.30862	N	1.465	0.36909	L	1.2	0.37405	T	-1.91	0.44471	N	0.329	0.36989	-1.1002	0.04067	T	0.048	0.20632	T	10	0.082680225	0.13672	T	0.006354	0.16696	T	0.085	0.24743	0.307	0.27806	0.117506650769	0.11410	0.22891689739805393	0.22806	0.0443737032538	0.04785	0.632842183113	0.57548	T	0.104774	0.41465	T	-0.210542	0.19303	T	-0.540205	0.18276	T	0.201581314206123	0.20502	T	0.685131	0.29593	T	0.055491958	0.10791	0.073092036	0.15845	0.055491958	0.10791	0.073092036	0.15845	-2.344	0.04911	T	.	.	0.388	0.58913	A	.;.;.	.;.;.	0.953755	0.13297	9.802	0.97893421265121461	0.36690	0.13235	0.17741	N	AEFDBI	0.197331	0.32426	N	-1.3282961693786	0.03355	0.1497388	-1.42487362353296	0.03005	0.1393659	0.999032131386444	0.38264	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	-7.02	0.01433	-0.193000	0.09572	-0.182000	0.11122	-0.106000	0.15538	0.008000	0.17931	0.000000	0.08366	0.779000	0.36868	0.4331:0.2723:0.2946:0.0	7.543	0.26917	734	0.53889	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	207.85	102	chr3	157381275	.	G	C	207.85	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-7.176;DP=676;ExcessHet=0.4139;FS=126.554;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=2.21;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485:.	2	0	1	4
chr3	157381275	157381275	-	AACCCC	exonic	VEPH1	.	nonframeshift insertion	VEPH1:NM_001167911:exon7:c.1007_1008insGGGGTT:p.D336delinsEGF,VEPH1:NM_001167912:exon7:c.1007_1008insGGGGTT:p.D336delinsEGF,VEPH1:NM_024621:exon7:c.1007_1008insGGGGTT:p.D336delinsEGF	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	207.85	102	chr3	157381275	.	G	GAACCCC	207.85	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-7.176;DP=676;ExcessHet=0.4139;FS=126.554;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=2.21;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485:.	2	0	1	4
chr3	161249488	161249488	G	A	exonic	NMD3	.	nonsynonymous SNV	NMD3:NM_001320227:exon14:c.G1238A:p.R413H,NMD3:NM_015938:exon14:c.G1238A:p.R413H	.	.	.	.	.	.	.	.	.	.	.	3359164	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.330	0.0279543280719	.	.	8.513e-06	0	0	0	0	1.558e-05	0	0	1.29e-05	2	154602	rs760279626	2.329e-05	2.326e-05	2.318e-05	2.34e-05	6.015e-05	1.677e-05	1.479e-05	1.999e-05	1.742e-05	6.015e-05	0	0	0	0	0	2.79e-05	1.659e-05	0	1.314e-05	1.313e-05	2.569e-05	0	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.005	0.72224	D	0.987	0.90584	D	0.548	0.67658	P	0.000000	0.84330	D	0.047589	1	0.81001	D	2.97	0.85306	M	1.91	0.23283	T	-3.95	0.74051	D	0.775	0.77226	-0.7384	0.58534	T	0.177	0.52225	T	10	0.7101801	0.72993	D	0.027954	0.50703	D	0.330	0.65226	0.255	0.19533	0.670669281473	0.66789	0.46436428098826343	0.46355	0.352968742451	0.37116	0.758584141731	0.75720	T	0.204323	0.56306	T	-0.0737519	0.40727	T	-0.161569	0.58210	T	0.981496930122375	0.73944	D	0.985476	0.95021	D	0.5988569	0.72630	0.45402846	0.68251	0.5988569	0.72631	0.45402846	0.68251	-4.912	0.35870	T	.	.	0.896	0.82481	P	.;.;.	.;.;.	5.390789	0.90310	31	0.99937752304075456	0.99661	0.95205	0.63827	D	AEFDBCI	0.894954	0.83448	D	0.827911821687478	0.87818	9.351229	0.794509669995352	0.89409	9.962954	0.99999143297628	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.77	4.77	0.60425	8.904000	0.92204	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.671	0.88123	772	0.48957	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	567.63	33	chr3	161249488	.	G	A	567.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.412;DP=233;ExcessHet=0;FS=0.952;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.87;ReadPosRankSum=-0.075;SOR=0.862	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1049	6	0	1	0
chr3	165188250	165188250	G	A	exonic	SLITRK3	.	nonsynonymous SNV	SLITRK3:NM_001318810:exon2:c.C2581T:p.R861C,SLITRK3:NM_001318811:exon2:c.C2581T:p.R861C,SLITRK3:NM_014926:exon2:c.C2581T:p.R861C	.	434	1075	10	3	0	16	0.00738689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.0159597476729	0.0028	0.000998403	0.0031	0.0005	0.0032	0	0.0005	0.0045	0.0044	0.0012	0.0029495	456	154602	rs73165236	0.0033	0.0033	0.0033	0.0033	0.0177	0.0032	0.0032	0.0149	0.0139	0.0006	0.0050	0.0114	2.519e-05	0.0009	0.0177	0.0034	0.0037	0.0015	0.0029	0.0029	0.0028	0.0030	0.0088	0.0027	0.0026	0.0076	0.0072	0.0005	0	0.0088	0.0101	0	0.0006	0.0204	0.0032	0.0057	0.0010	0.006	0.61437	D	0.071	0.43531	T	0.857	0.47240	P	0.249	0.38982	B	0.003377	0.35041	N	0.000000	0.999952	0.52396	D	0.345	0.11182	N	-0.01	0.62762	T	-0.87	0.23590	N	0.553	0.61341	-0.8436	0.52406	T	0.136	0.45087	T	10	0.005740285	0.00128	T	0.01596	0.36975	T	0.225	0.52323	.	.	0.328504224676	0.32467	0.25901232267968466	0.25815	0.453547560882	0.45046	0.490606665611	0.37522	T	0.019431	0.15482	T	-0.217842	0.18288	T	-0.084462	0.64577	T	0.0254024918408045	0.01326	T	0.843016	0.51993	T	0.12987834	0.30322	0.073567376	0.16001	0.12987834	0.30322	0.073567376	0.16001	-4.359	0.28996	T	.	.	0.138	0.35992	B	.;.	.;.	3.866062	0.56101	23.7	0.99592681987886977	0.73690	0.98362	0.82008	D	AEFBI	0.863619	0.78220	D	0.407196782319659	0.61818	4.388081	0.536924783923325	0.70493	5.513358	0.999956883348039	0.48110	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.75	5.75	0.90390	8.191000	0.89681	11.806000	0.96793	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0785:0.0:0.9215:0.0	12.781	0.56855	901	0.24189	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.015609	0.005051	0.019022	0.023392	0.000000	0.034483	0.006098	0.011364	0.07143	934.63	88	chr3	165188250	.	G	A	934.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.709;DP=283;ExcessHet=0;FS=1.736;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-0.318;SOR=0.92	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1336	6	0	1	0
chr3	167626931	167626931	G	A	exonic	WDR49	.	nonsynonymous SNV	WDR49:NM_001348951:exon3:c.C527T:p.T176I,WDR49:NM_001348952:exon3:c.C527T:p.T176I,WDR49:NM_001366157:exon3:c.C527T:p.T176I	.	429	1081	12	0	0	12	0.00551978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00506168775717	.	0.00119808	0.0003	0	0	0	0	0.0008	0	0	0.0001682	26	154602	rs200481464	0.0004	0.0005	0.0003	0.0005	0.0064	0.0004	0.0004	0.0057	0.0054	0.0001	0	0	0	0	0.0046	0.0002	0.0006	0.0064	0.0004	0.0004	0.0003	0.0005	0.0062	0.0003	0.0003	0.0045	0.0039	0.0002	0	0	0	0	0	0.0034	0.0003	0	0.0062	0.103	0.30097	T	0.132	0.34477	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	0.968654	0.38675	D	.	.	.	1.46	0.32238	T	-2.06	0.47175	N	0.151	0.15469	-1.0745	0.08452	T	0.047	0.20037	T	8	0.0041234493	0.00081	T	0.005062	0.12815	T	0.041	0.10877	0.424	0.46857	0.107399877778	0.10242	.	.	.	.	.	.	.	.	.	.	-0.678847	0.00049	T	-0.743188	0.03758	T	0.0220016695243544	0.00909	T	0.516748	0.16963	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.15251	B	.;.	.;.	1.805868	0.22954	15.83	0.98768040598143059	0.45924	0.14174	0.18262	N	AEFI	0.055713	0.10240	N	-0.470689198749537	0.23045	1.234765	-0.402347576704262	0.24928	1.367896	1.28194475251406E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.51	0.864	0.18205	0.346000	0.19737	1.151000	0.24481	0.676000	0.76740	0.135000	0.23427	0.001000	0.17328	0.951000	0.49849	0.2383:0.1061:0.5372:0.1184	3.681	0.07844	806	0.43582	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	1831.34	33	chr3	167626931	.	G	A	1831.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.223;DP=256;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=16.21;ReadPosRankSum=-0.03;SOR=0.628	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1049	5	0	2	0
chr3	171014539	171014539	C	T	exonic	SLC2A2	.	nonsynonymous SNV	SLC2A2:NM_000340:exon3:c.G301A:p.V101I	Fanconi-Bickel syndrome, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	251005	Monogenic_diabetes|Fanconi-Bickel_syndrome|not_specified|not_provided	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MONDO:MONDO:0009216,MedGen:C3495427,OMIM:227810,Orphanet:2088|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.464	.	0.0002	0.00319489	0.0014	0	0.0008	0.0148	0	0.0004	0.0011	0.0005	0.0013195	204	154602	rs1800572	0.0009	0.0009	0.0009	0.0009	0.0236	0.0009	0.0009	0.0223	0.0218	0	0.0010	0.0059	0.0236	7.488e-05	0.0007	6.655e-05	0.0012	0.0005	0.0009	0.0009	0.0009	0.0008	0.0158	0.0007	0.0007	0.0130	0.0120	0	0	0.0009	0.0063	0.0158	0	0	8.82e-05	0.0019	0.0006	0.001	0.78490	D	0.035	0.52389	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.045	0.86684	M	-1.15	0.77964	T	-0.89	0.24026	N	0.545	0.57177	0.344	0.88250	D	0.580	0.84867	D	10	0.01395154	0.00294	T	.	.	.	0.464	0.76023	.	.	0.921795024414	0.92100	0.7767031994767668	0.77620	0.564363956281	0.52821	0.548998773098	0.45716	T	0.414483	0.76802	T	-0.213721	0.18859	T	-0.0680951	0.65762	T	0.0910943406524676	0.11347	T	0.971803	0.89778	D	0.68906474	0.77461	0.7248556	0.83749	0.79933816	0.83864	0.8225538	0.89703	-11.285	0.81198	D	0.6984168083227051	0.77706	0.150	0.33063	B	.	.	4.771730	0.77247	26.7	0.99845895340126201	0.92576	0.96802	0.71018	D	AEFBHCI	0.954597	0.97181	D	1.02276450458692	0.96401	14.65175	0.977051219509457	0.98132	17.50214	1.0	0.98316	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.08	6.08	0.98982	7.538000	0.80960	7.619000	0.62229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.274	0.98485	917	0.20147	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.07143	546.44	35	chr3	171014539	.	C	T	546.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.703;DP=233;ExcessHet=0;FS=2.735;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=1.18;SOR=1.27	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	6	0	1	0
chr3	171084316	171084316	G	C	exonic	TNIK	.	nonsynonymous SNV	TNIK:NM_001161566:exon23:c.C2732G:p.T911S,TNIK:NM_001161562:exon24:c.C2897G:p.T966S,TNIK:NM_001161564:exon24:c.C2819G:p.T940S,TNIK:NM_001161565:exon24:c.C2756G:p.T919S,TNIK:NM_001161560:exon25:c.C2984G:p.T995S,TNIK:NM_001161561:exon25:c.C2921G:p.T974S,TNIK:NM_001161563:exon25:c.C2843G:p.T948S,TNIK:NM_015028:exon26:c.C3008G:p.T1003S	Mental retardation, autosomal recessive 54, Autosomal recessive	436	1082	3	1	0	5	0.00230521	.	.	.	3616963	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.207	0.0456284094397	.	.	8.285e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs775260526	4.795e-06	4.788e-06	0	9.642e-06	0.0002	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.502e-06	0	1.163e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.023	0.18885	B	0.006	0.19048	B	0.000104	0.50451	D	0.209316	0.999846	0.49770	D	-1.665	0.00379	N	-0.58	0.71543	T	0.53	0.02808	N	0.272	0.36464	-0.8481	0.52099	T	0.160	0.49430	T	10	0.13178965	0.25083	T	0.045628	0.62071	D	0.207	0.49555	0.155	0.05858	0.388425449554	0.38455	0.09796815822852498	0.09727	1.4902633655	0.86861	0.638772130013	0.58389	T	0.069642	0.33761	T	-0.0504929	0.44373	T	-0.310306	0.43625	T	0.413467685789284	0.29447	T	0.833717	0.50261	T	0.06842914	0.14907	0.11186005	0.26987	0.06842914	0.14907	0.11186005	0.26986	-5.085	0.38305	T	.	.	0.083	0.23640	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.082400	0.60735	24.3	0.61257909012908507	0.06664	0.99591	0.97770	D	AEFBI	0.917507	0.88521	D	-0.106709461922773	0.37101	2.153657	0.185725363354534	0.49065	3.114204	0.999999999990708	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.95	5.95	0.96415	9.518000	0.97064	8.693000	0.78083	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.373	0.98897	929	0.16858	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	438.27	31	chr3	171084316	.	G	C	438.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.139;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=1.53;SOR=0.709	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	5	0	1	1
chr3	179210561	179210561	G	T	exonic	PIK3CA	.	nonsynonymous SNV	PIK3CA:NM_006218:exon9:c.G1535T:p.G512V	Breast cancer, somatic;CLOVE syndrome, somatic;Colorectal cancer, somatic;Cowden syndrome 5;Gastric cancer, somatic;Hepatocellular carcinoma, somatic;Keratosis, seborrheic, somatic;Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic;Nevus, epidermal, somatic;Nonsmall cell lung cancer, somatic;Ovarian cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.0253827483572	.	.	1.662e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs200031978	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.162e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.995e-07	0	1.162e-05	6.576e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.058	0.37750	T	0.014	0.62352	D	0.0	0.02946	B	0.001	0.04355	B	0.000019	0.62929	D	0.116409	1	0.81001	D	0.55	0.14455	N	-0.7	0.72785	T	-1.01	0.26639	N	0.491	0.52475	-0.8521	0.51823	T	0.221	0.58434	T	10	0.33564585	0.50718	T	0.025383	0.48351	D	0.346	0.66769	0.376	0.38994	0.95303604743	0.95253	0.7787790038986625	0.77828	1.02087520744	0.75113	0.648184418678	0.59728	T	0.430733	0.77910	T	0.15521	0.69755	D	0.167	0.81212	D	0.452835619449615	0.30901	T	0.894511	0.63379	D	0.4613256	0.64753	0.36927372	0.62201	0.4613256	0.64754	0.36927372	0.62200	-3.879	0.21988	T	.	.	0.156	0.34427	B	.;.	.;.	3.257501	0.44530	22.0	0.99077139813533555	0.51882	0.98471	0.83126	D	AEFBI	0.585501	0.58390	D	-0.0396023400152727	0.40068	2.37329	0.179306350400847	0.48715	3.083662	0.999998914642976	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	5.488000	0.66589	7.458000	0.59026	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.240	0.93864	797	0.45241	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1112.53	34	chr3	179210561	.	G	T	1112.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.572;DP=283;ExcessHet=0;FS=4.949;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=0.912;SOR=0.997	GT:AD:DP:GQ:PL	0/1:53,48:101:99:1123,0,1281	6	0	1	0
chr3	179240022	179240022	T	C	exonic	KCNMB3	.	nonsynonymous SNV	KCNMB3:NM_001163677:exon4:c.A496G:p.T166A	.	763	722	33	4	0	41	0.0276094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0035	0.00698882	0.0188	0	0.0122	0.0032	0.0006	0.0105	0	0.0389	0.0034088	527	154602	rs184550595	0.0073	0.0071	0.0063	0.0084	0.0414	0.0072	0.0072	0.0402	0.0397	0.0008	0.0041	0.0289	0.0003	0.0011	0.0301	0.0050	0.0094	0.0414	0.0056	0.0056	0.0049	0.0064	0.0441	0.0053	0.0052	0.0393	0.0374	0.0013	0	0.0071	0.0326	0.0004	0.0011	0.0170	0.0047	0.0133	0.0441	0.157	0.23997	T	0.038	0.51421	D	.	.	.	.	.	.	.	.	.	.	0.99799	0.81001	N	.	.	.	2.26	0.17596	T	-0.81	0.22294	N	0.111	0.09772	-1.0142	0.25593	T	0.024	0.10374	T	9	0.0035863519	0.00065	T	.	.	.	0.061	0.17616	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.562205	0.00246	T	-0.551777	0.17155	T	0.012226413319391	0.00197	T	0.29997	0.05606	T	.	.	.	.	.	.	.	.	-3.779	0.20491	T	.	.	0.137	0.29941	B	.	.	1.620727	0.20700	14.87	0.9940360828791398	0.62934	0.83452	0.42568	D	AEFGI	0.206643	0.33289	N	-0.0184429246067715	0.41021	2.446306	0.0663263132403697	0.42868	2.60055	0.677897955158269	0.22446	0.643511	0.44296	0	0.688494	0.66719	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.35	4.35	0.51454	3.584000	0.53680	4.174000	0.42293	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.0:1.0	11.973	0.52364	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019330	0.005376	0.009615	0.009009	0.000000	0.000000	0.018750	0.050000	0.07143	505.49	27	chr3	179240022	.	T	C	505.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.209;DP=189;ExcessHet=0;FS=3.654;MLEAC=1;MLEAF=0.071;MQ=59.89;MQRankSum=-0.71;QD=14.44;ReadPosRankSum=0.598;SOR=0.223	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,827	6	0	1	0
chr3	179401278	179401278	C	T	exonic	GNB4	.	nonsynonymous SNV	GNB4:NM_021629:exon10:c.G958A:p.V320I	Charcot-Marie-Tooth disease, dominant intermediate F, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	393372	Charcot-Marie-Tooth_disease_dominant_intermediate_F|not_provided	MONDO:MONDO:0014074,MedGen:C4749463,OMIM:615185,Orphanet:352670|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.039	.	0.0025	0.000798722	0.0044	0.0002	0.0009	0	0.0234	0.0053	0.0055	0.0009	0.0039003	603	154602	rs61750380	0.0030	0.0031	0.0030	0.0031	0.0028	0.0030	0.0029	0.0027	0.0027	0.0002	0.0007	0.0011	0	0.0204	0.0002	0.0028	0.0022	0.0008	0.0034	0.0034	0.0028	0.0041	0.0041	0.0032	0.0031	0.0037	0.0036	0.0003	0	0.0004	0.0014	0.0004	0.0196	0	0.0041	0.0019	0.0008	0.038	0.42783	D	0.055	0.46862	T	0.068	0.23728	B	0.07	0.27859	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.23	0.09627	N	0.29	0.58897	T	-0.9	0.24244	N	0.126	0.11912	-0.9106	0.46781	T	0.153	0.48326	T	10	0.008676469	0.00196	T	.	.	.	0.039	0.10176	.	.	0.368394457434	0.36455	0.2843829060369544	0.28351	0.514025229606	0.49365	0.707132101059	0.68177	T	0.072636	0.34502	T	-0.399893	0.02318	T	-0.339804	0.40367	T	0.0214060337838976	0.00843	T	0.911209	0.68535	D	0.12981378	0.30308	0.09047445	0.21218	0.13585633	0.31516	0.10776861	0.25950	-7.283	0.56074	T	0.18583022256871345	0.24162	0.094	0.14293	B	.;.	.;.	3.399609	0.47106	22.4	0.99559845090233978	0.71707	0.94946	0.62882	D	AEFBI	0.549255	0.56221	D	-0.0679206985782367	0.38806	2.278519	0.0728004342283706	0.43187	2.625648	0.999919925130517	0.45857	0.732398	0.92422	0	0.601575	0.49859	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.92	4.04	0.46262	4.932000	0.63178	3.358000	0.37837	-0.176000	0.10722	1.000000	0.71638	0.998000	0.33993	0.863000	0.40966	0.0:0.9235:0.0:0.0765	13.411	0.60391	792	0.45996	WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	420.63	35	chr3	179401278	.	C	T	420.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.414;DP=193;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=2.2;SOR=0.593	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1061	6	0	1	0
chr3	179808316	179808316	T	C	exonic	PEX5L	.	nonsynonymous SNV	PEX5L:NM_001349404:exon9:c.A898G:p.R300G,PEX5L:NM_001349401:exon10:c.A898G:p.R300G,PEX5L:NM_001256753:exon11:c.A1297G:p.R433G,PEX5L:NM_001349397:exon11:c.A1246G:p.R416G,PEX5L:NM_001349398:exon11:c.A1207G:p.R403G,PEX5L:NM_001349399:exon11:c.A898G:p.R300G,PEX5L:NM_001349410:exon11:c.A898G:p.R300G,PEX5L:NM_001256751:exon12:c.A1402G:p.R468G,PEX5L:NM_001256752:exon12:c.A1369G:p.R457G,PEX5L:NM_001256755:exon12:c.A1150G:p.R384G,PEX5L:NM_001256756:exon12:c.A898G:p.R300G,PEX5L:NM_001349392:exon12:c.A1441G:p.R481G,PEX5L:NM_001349396:exon12:c.A1273G:p.R425G,PEX5L:NM_001349406:exon12:c.A898G:p.R300G,PEX5L:NM_001349409:exon12:c.A898G:p.R300G,PEX5L:NM_001256750:exon13:c.A1468G:p.R490G,PEX5L:NM_001256754:exon13:c.A1345G:p.R449G,PEX5L:NM_001349388:exon13:c.A1546G:p.R516G,PEX5L:NM_001349390:exon13:c.A1534G:p.R512G,PEX5L:NM_001349391:exon13:c.A1444G:p.R482G,PEX5L:NM_001349393:exon13:c.A1441G:p.R481G,PEX5L:NM_001349394:exon13:c.A1351G:p.R451G,PEX5L:NM_001349395:exon13:c.A1345G:p.R449G,PEX5L:NM_001349408:exon13:c.A898G:p.R300G,PEX5L:NM_016559:exon13:c.A1474G:p.R492G,PEX5L:NM_001349386:exon14:c.A1639G:p.R547G,PEX5L:NM_001349387:exon14:c.A1546G:p.R516G,PEX5L:NM_001349389:exon14:c.A1540G:p.R514G	.	424	1097	1	0	0	1	0.000455581	.	.	.	2314125	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.329	0.0354391267075	7.7e-05	.	0.0002	0	0.0002	0	0	7.562e-05	0	0.0014	0.0001746	27	154602	rs368029000	0.0001	0.0001	7.259e-05	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	0	0.0003	0	2.535e-05	0	0.0009	2.437e-05	0.0001	0.0016	0.0001	0.0001	0.0001	0.0001	0.0017	7.091e-05	5.748e-05	0.0008	0.0006	0	0	0.0002	0	0	0	0	7.35e-05	0.0005	0.0017	0.001	0.91255	D	0.003	0.79402	D	0.92	0.52359	P	0.652	0.52532	P	0.000000	0.84330	D	0.042636	0.999962	0.52935	D	1.14	0.29013	L	0.32	0.58468	T	-4.18	0.75537	D	0.512	0.57348	-0.6598	0.62285	T	0.208	0.56744	T	10	0.07332283	0.11063	T	0.035439	0.56343	D	0.329	0.65126	.	.	0.675616982066	0.67287	0.73783982540752	0.73728	1.26647579801	0.82178	0.516022622585	0.41066	T	0.465912	0.80087	T	-0.201805	0.20545	T	-0.108207	0.62755	T	0.157588995980882	0.17691	T	0.976702	0.91973	D	0.69108456	0.77570	0.72519755	0.83769	0.69108456	0.77571	0.72519755	0.83770	-8.996	0.69839	D	.	.	0.710	0.73355	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.908426	0.56977	23.8	0.99563624488931657	0.71953	0.94025	0.59887	D	AEFI	0.610362	0.59922	D	-0.0177646813446809	0.41053	2.448667	0.00702123693030771	0.40040	2.383334	0.309983521551415	0.19277	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	6.17	2.13	0.26445	3.439000	0.52642	2.021000	0.30209	-0.155000	0.11859	1.000000	0.71638	0.998000	0.33993	0.992000	0.67800	0.0:0.0:0.3401:0.6599	15.123	0.72137	820	0.40914	.;Tetratricopeptide repeat-containing domain;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	268.49	28	chr3	179808316	.	T	C	268.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.582;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=-0.233;SOR=0.495	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,993	6	0	1	0
chr3	179875393	179875393	T	C	exonic	PEX5L	.	nonsynonymous SNV	PEX5L:NM_001349404:exon2:c.A14G:p.K5R,PEX5L:NM_001349401:exon3:c.A14G:p.K5R,PEX5L:NM_001256753:exon4:c.A413G:p.K138R,PEX5L:NM_001349397:exon4:c.A362G:p.K121R,PEX5L:NM_001349398:exon4:c.A323G:p.K108R,PEX5L:NM_001349399:exon4:c.A14G:p.K5R,PEX5L:NM_001349410:exon4:c.A14G:p.K5R,PEX5L:NM_001256751:exon5:c.A518G:p.K173R,PEX5L:NM_001256752:exon5:c.A485G:p.K162R,PEX5L:NM_001256755:exon5:c.A266G:p.K89R,PEX5L:NM_001256756:exon5:c.A14G:p.K5R,PEX5L:NM_001349392:exon5:c.A557G:p.K186R,PEX5L:NM_001349396:exon5:c.A389G:p.K130R,PEX5L:NM_001349406:exon5:c.A14G:p.K5R,PEX5L:NM_001349409:exon5:c.A14G:p.K5R,PEX5L:NM_001256750:exon6:c.A584G:p.K195R,PEX5L:NM_001256754:exon6:c.A461G:p.K154R,PEX5L:NM_001349388:exon6:c.A662G:p.K221R,PEX5L:NM_001349390:exon6:c.A650G:p.K217R,PEX5L:NM_001349391:exon6:c.A560G:p.K187R,PEX5L:NM_001349393:exon6:c.A557G:p.K186R,PEX5L:NM_001349394:exon6:c.A467G:p.K156R,PEX5L:NM_001349395:exon6:c.A461G:p.K154R,PEX5L:NM_001349408:exon6:c.A14G:p.K5R,PEX5L:NM_016559:exon6:c.A590G:p.K197R,PEX5L:NM_001349386:exon7:c.A755G:p.K252R,PEX5L:NM_001349387:exon7:c.A662G:p.K221R,PEX5L:NM_001349389:exon7:c.A656G:p.K219R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0495455773261	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1168289704	6.843e-07	6.841e-07	1.362e-06	0	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	6.573e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.159	0.54683	T	0.5	0.17014	T	0.001	0.09854	B	0.001	0.10090	B	0.000131	0.49741	D	0.208224	0.833021	0.34947	D	-0.285	0.03692	N	-2.41	0.88533	D	-0.58	0.62151	N	0.149	0.28028	-0.0705	0.80769	T	0.405	0.75480	T	10	0.17771786	0.32821	T	0.049546	0.63858	D	0.243	0.54921	0.177	0.08379	0.850612038419	0.84917	0.052743420041366534	0.05216	0.332146085643	0.35272	0.558086872101	0.46998	T	0.14757	0.48571	T	-0.0127884	0.49874	T	-0.159292	0.58416	T	0.355630586668074	0.27238	T	0.924308	0.87805	D	0.09883906	0.23318	0.102368966	0.24533	0.09883906	0.23318	0.102368966	0.24533	-2.884	0.13290	T	.	.	0.068	0.15832	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.443452	0.31453	18.75	0.98374719373518138	0.40791	0.83854	0.42947	D	AEFI	0.526466	0.54881	D	-0.115640796306405	0.36710	2.125712	0.10890525433459	0.45004	2.771324	0.74846796713477	0.23321	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.88	5.88	0.94564	2.924000	0.48572	5.082000	0.47276	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:0.1434:0.8566	12.983	0.57974	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	95.53	42	chr3	179875393	.	T	C	95.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-6.858;DP=432;ExcessHet=0;FS=146.866;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=1.82;SOR=7.275	GT:AD:DP:GQ:PL	0/1:175,38:213:99:106,0,3756	6	0	1	0
chr3	180616526	180616527	TA	-	exonic	CCDC39	.	frameshift deletion	CCDC39:NM_181426:exon18:c.2575_2576del:p.Y859Lfs*12	Ciliary dyskinesia, primary, 14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	379.79	10	chr3	180616525	.	GTA	G	379.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.315;DP=109;ExcessHet=0;FS=1.871;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.99;ReadPosRankSum=0.492;SOR=0.223	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,1013	6	0	1	0
chr3	180661985	180661985	C	T	exonic	CCDC39	.	nonsynonymous SNV	CCDC39:NM_181426:exon3:c.G233A:p.R78H	Ciliary dyskinesia, primary, 14	1	1503	18	0	0	18	0.00595238	.	.	.	221375	Primary_ciliary_dyskinesia_14|not_specified|not_provided|Primary_ciliary_dyskinesia	MONDO:MONDO:0013434,MedGen:C3151136,OMIM:613807,Orphanet:244|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.119	.	0.0055	0.00599042	0.0122	0.0023	0	0	0.0101	0.0112	0.0075	0.0196	0.0044954	695	154602	rs115952495	0.0067	0.0066	0.0064	0.0069	0.0177	0.0065	0.0065	0.0169	0.0166	0.0011	0.0011	0.0161	0.0001	0.0082	0.0021	0.0062	0.0061	0.0177	0.0047	0.0047	0.0046	0.0048	0.0183	0.0044	0.0043	0.0152	0.0140	0.0013	0.0121	0.0007	0.0147	0.0004	0.0088	0	0.0059	0.0028	0.0183	0.419	0.14843	T	0.678	0.06147	T	0.007	0.14184	B	0.004	0.10090	B	0.877839	0.08777	N	0.953795	0.999664	0.21738	N	-0.225	0.03956	N	-1.14	0.77843	T	-1.74	0.41239	N	0.206	0.22870	-0.9124	0.46556	T	0.189	0.54079	T	10	0.0032339096	0.00055	T	.	.	.	0.119	0.33137	.	.	0.646061630353	0.64312	.	.	0.0624283650385	0.06944	0.21579477191	0.01081	T	0.004028	0.03443	T	-0.434208	0.01399	T	-0.38286	0.35386	T	0.00574437150263712	0.00063	T	0.592541	0.21854	T	0.038637057	0.05186	0.04981648	0.07692	0.034333773	0.03834	0.04981648	0.07692	-4.525	0.31214	T	.	.	.	.	.	.;.	.;.	0.823680	0.11949	8.510	0.96993205610494304	0.31912	0.04223	0.09740	N	AEFI	0.063656	0.12314	N	-0.770989148451699	0.14071	0.6979478	-0.64773034688136	0.18274	0.9754879	0.00685963275058952	0.11325	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.38	2.63	0.30420	0.724000	0.25624	-0.064000	0.12386	-0.181000	0.10308	0.350000	0.25759	0.000000	0.08366	0.256000	0.23417	0.0:0.2889:0.0:0.7111	8.560	0.32668	524	0.74079	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005086	0.000000	0.002755	0.000000	0.000000	0.000000	0.000000	0.019084	0.07143	869.83	33	chr3	180661985	.	C	T	869.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.32;DP=273;ExcessHet=0;FS=1.697;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=-0.109;SOR=0.896	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1320	6	0	1	0
chr3	183092428	183092428	T	G	exonic	MCCC1	.	nonsynonymous SNV	MCCC1:NM_020166:exon3:c.A254C:p.N85T	3-Methylcrotonyl-CoA carboxylase 1 deficiency, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	YES	686379	not_provided|3-methylcrotonyl-CoA_carboxylase_1_deficiency	MedGen:C3661900|MONDO:MONDO:0008861,MedGen:C0268600,OMIM:210200,Orphanet:6	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.505	0.060247653932	0.0004	0.000798722	0.0007	0	0.0010	0	0.0024	0.0008	0.0055	0.0001	0.0006468	100	154602	rs148616219	0.0006	0.0006	0.0006	0.0006	0.0019	0.0006	0.0006	0.0015	0.0014	0	0.0019	0	0	0.0021	0.0003	0.0006	0.0006	0.0001	0.0006	0.0006	0.0006	0.0005	0.0021	0.0005	0.0004	0.0015	0.0013	9.624e-05	0	0.0021	0	0	0.0011	0	0.0005	0.0024	0	0.007	0.59928	D	0.015	0.61642	D	0.661	0.40924	P	0.493	0.47443	P	0.003095	0.35449	N	0.368895	0.999169	0.81001	D	1.44	0.36004	L	-3.04	0.92357	D	-3.35	0.66436	D	0.362	0.41853	0.404	0.89149	D	0.719	0.90368	D	10	0.033333212	0.01506	T	0.060248	0.67936	D	0.505	0.78662	.	.	0.954511693739	0.95403	0.3638720573950276	0.36301	0.144292770925	0.16289	0.445167541504	0.31283	T	0.749681	0.93131	D	-0.310299	0.07722	T	-0.225763	0.52180	T	0.0778338438143122	0.09707	T	0.832417	0.50060	T	0.3546958	0.57430	0.24209572	0.49622	0.2597491	0.49028	0.291051	0.55128	-7.099	0.54753	T	0.28413475145972805	0.37988	0.121	0.25199	B	.;.	.;.	3.473151	0.48468	22.6	0.99120554879460221	0.52985	0.96659	0.70259	D	AEFDBI	0.369247	0.45605	N	0.16804248937398	0.49668	3.164721	0.179650624393382	0.48733	3.085304	0.998080565778982	0.36406	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	3.52	0.39415	3.159000	0.50430	0.883000	0.22411	0.665000	0.62972	1.000000	0.71638	0.739000	0.26469	0.239000	0.22975	0.0:0.1511:0.0:0.8489	9.063	0.35608	867	0.32089	Biotin carboxylase-like, N-terminal domain|Biotin carboxylation domain;Biotin carboxylase-like, N-terminal domain|Biotin carboxylation domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	344.49	37	chr3	183092428	.	T	G	344.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.604;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.26;ReadPosRankSum=1.47;SOR=0.699	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr3	183650946	183650946	A	C	exonic	KLHL24	.	nonsynonymous SNV	KLHL24:NM_001349415:exon2:c.A590C:p.D197A,KLHL24:NM_001349421:exon2:c.A590C:p.D197A,KLHL24:NM_001349423:exon2:c.A590C:p.D197A,KLHL24:NM_001349426:exon2:c.A590C:p.D197A,KLHL24:NM_001349413:exon3:c.A590C:p.D197A,KLHL24:NM_001349414:exon3:c.A590C:p.D197A,KLHL24:NM_001349416:exon3:c.A590C:p.D197A,KLHL24:NM_001349422:exon3:c.A590C:p.D197A,KLHL24:NM_001349424:exon3:c.A590C:p.D197A,KLHL24:NM_001349425:exon3:c.A590C:p.D197A,KLHL24:NM_017644:exon3:c.A590C:p.D197A,KLHL24:NM_001349417:exon4:c.A590C:p.D197A,KLHL24:NM_001349418:exon4:c.A590C:p.D197A,KLHL24:NM_001349419:exon4:c.A590C:p.D197A,KLHL24:NM_001349420:exon4:c.A590C:p.D197A	Epidermolysis bullosa simplex, generalized, with scarring and hair loss, Autosomal dominant	432	1084	5	1	0	7	0.00321839	.	.	.	1523731	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.348	.	0.0003	0.00599042	0.0019	0.0005	0.0002	0.0125	0	0.0001	0.0011	0.0068	0.0018305	283	154602	rs116961268	0.0008	0.0008	0.0006	0.0009	0.0087	0.0007	0.0007	0.0080	0.0077	0.0002	0.0001	0	0.0087	0	0.0007	4.137e-05	0.0017	0.0069	0.0010	0.0010	0.0009	0.0012	0.0166	0.0009	0.0009	0.0137	0.0127	0.0006	0	0.0001	0	0.0166	0	0	4.41e-05	0.0009	0.0089	0.046	0.53900	D	0.091	0.40110	T	0.062	0.35307	B	0.156	0.34472	B	0.000000	0.84330	D	0.045811	1	0.81001	D	1.01	0.25309	L	-0.29	0.67712	T	-2.84	0.60507	D	0.515	0.54845	-0.7289	0.59019	T	0.158	0.49060	T	10	0.0114785135	0.00251	T	.	.	.	0.348	0.66956	.	.	0.707274339945	0.70472	0.41660315236054946	0.41576	1.05958384172	0.76439	0.701718389988	0.67392	T	0.345341	0.71374	T	-0.15625	0.27338	T	0.015105	0.71314	D	0.0374139820121399	0.03229	T	0.908709	0.67605	D	0.5138417	0.67903	0.42045227	0.66007	0.54479015	0.69666	0.41281572	0.65473	-4.59	0.32260	T	0.13642190165765816	0.14919	0.086	0.14568	B	.;.;.	.;.;.	4.088087	0.60867	24.3	0.99198071734910087	0.55201	0.99447	0.96143	D	AEFBI	0.583771	0.58286	D	0.0311011034557449	0.43274	2.623571	0.187779477772195	0.49175	3.124039	0.999999973448769	0.74766	0.67177	0.52595	0	0.670034	0.63936	0	0.608884	0.39905	0	0.711	0.71501	0	.	.	5.3	5.3	0.74745	8.947000	0.92735	11.284000	0.91844	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.245	0.73196	428	0.80967	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.07143	1003.44	72	chr3	183650946	.	A	C	1003.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.282;DP=445;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=-0.4;SOR=0.691	GT:AD:DP:GQ:PL	0/0:110,0:110:99:0,120,1800	6	0	1	0
chr3	184142845	184142845	C	T	exonic	EIF2B5	.	nonsynonymous SNV	EIF2B5:NM_003907:exon11:c.C1613T:p.P538L	Leukoencephalopathy with vanishing white matter, Autosomal recessive;Ovarioleukodystrophy, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1563030	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.296	0.0204975535801	0.0005	0.000998403	0.0002	0.0016	9.122e-05	0	0	3.13e-05	0	0	0.0001682	26	154602	rs148734067	5.405e-05	5.404e-05	5.445e-05	5.363e-05	0.0011	4.411e-05	4.083e-05	0.0008	0.0008	0.0011	0.0002	0	0	0	0	2.248e-05	0.0001	0	0.0004	0.0004	0.0004	0.0004	0.0013	0.0003	0.0003	0.0010	0.0009	0.0013	0	0.0001	0	0	0	0	2.94e-05	0	0	0.344	0.12552	T	0.321	0.19073	T	0.0	0.02946	B	0.0	0.01387	B	0.045233	0.23558	N	0.449943	0.996807	0.43428	D	-0.345	0.03330	N	-4.58	0.97812	D	-1.1	0.28497	N	0.11	0.09631	-0.1481	0.78962	T	0.645	0.87626	D	10	0.008962393	0.00203	T	0.020498	0.43107	T	0.296	0.61616	.	.	0.289831133145	0.28582	0.17329767222971473	0.17249	0.288080729046	0.31214	0.269976586103	0.06138	T	0.083284	0.37019	T	-0.314868	0.07326	T	-0.260441	0.48781	T	0.0219859241227575	0.00907	T	0.756924	0.38041	T	0.025167707	0.01426	0.032519717	0.02001	0.025167707	0.01425	0.032519717	0.02001	-3.914	0.22512	T	0.1218956493251425	0.11619	0.060	0.00904	B	.;.;.	.;.;.	1.975848	0.25099	16.64	0.68364984102159454	0.08636	0.55009	0.29757	D	AEFDGBHCI	0.137095	0.25797	N	-0.712811734875873	0.15661	0.7912167	-0.446767817353438	0.23641	1.290282	0.999990873181268	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.89	3.57	0.40014	1.783000	0.38294	2.312000	0.32082	-0.181000	0.10308	0.989000	0.36753	0.990000	0.31317	0.994000	0.71098	0.0:0.3937:0.0:0.6063	7.086	0.24436	856	0.34373	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1366.63	35	chr3	184142845	.	C	T	1366.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.026;DP=294;ExcessHet=0;FS=2.363;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-1.475;SOR=0.95	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1093	6	0	1	0
chr3	184368264	184368264	T	A	exonic	POLR2H	.	nonsynonymous SNV	POLR2H:NM_001278698:exon5:c.T487A:p.L163I,POLR2H:NM_001346879:exon5:c.T379A:p.L127I	.	429	1086	7	0	0	7	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0054	0.00299521	0.0059	0.0020	0.0038	0	0.0032	0.0090	0.0023	0.0013	0.0055756	862	154602	rs41543313	0.0064	0.0064	0.0067	0.0062	0.0077	0.0063	0.0063	0.0076	0.0075	0.0012	0.0036	0.0005	0	0.0024	0.0040	0.0077	0.0061	0.0011	0.0047	0.0047	0.0054	0.0040	0.0081	0.0044	0.0043	0.0076	0.0073	0.0013	0.0055	0.0046	0.0003	0	0.0020	0.0102	0.0081	0.0038	0.0004	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	-0.14	0.09135	N	0.203	0.22486	-0.3618	0.73210	T	0.222	0.58498	T	5	0.004061103	0.00079	T	.	.	.	0.079	0.23065	.	.	0.243187853663	0.23924	0.30279045500957597	0.30192	.	.	.	.	.	.	.	.	-0.528573	0.00392	T	-0.525354	0.19754	T	0.0257210508345898	0.01369	T	0.259974	0.04152	T	.	.	.	.	.	.	.	.	-4.934	0.36115	T	.	.	0.083	0.09288	B	.	.	0.110803	0.05102	1.635	0.86846517202047036	0.16812	0.39277	0.26177	N	AEBCI	0.070818	0.14074	N	-0.427388170555457	0.24512	1.324108	-0.53313488273555	0.21255	1.149004	0.999997583904363	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.74	-6.8	0.01548	-0.521000	0.06331	-1.324000	0.05715	-0.122000	0.13826	0.163000	0.23839	0.000000	0.08366	0.995000	0.73285	0.0:0.0639:0.6444:0.2917	13.273	0.59607	881	0.29269	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.005051	0.002717	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	407.83	35	chr3	184368264	.	T	A	407.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.858;DP=201;ExcessHet=0;FS=1.657;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=0;SOR=1.179	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr3	185496952	185496952	T	C	exonic	TMEM41A	.	nonsynonymous SNV	TMEM41A:NM_080652:exon2:c.A149G:p.E50G	.	418	1095	9	0	0	9	0.00409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.270	.	0.0018	0.00279553	0.0058	0.0010	0.0023	0	0.0299	0.0071	0.0049	0.0027	0.0030401	470	154602	rs149580105	0.0045	0.0045	0.0045	0.0045	0.0044	0.0044	0.0043	0.0043	0.0042	0.0007	0.0022	0.0044	0	0.0186	0.0030	0.0044	0.0039	0.0023	0.0040	0.0040	0.0033	0.0047	0.0044	0.0037	0.0036	0.0040	0.0038	0.0006	0	0.0039	0.0052	0.0002	0.0169	0	0.0044	0.0057	0.0017	0.009	0.57480	D	0.21	0.35455	T	0.714	0.42167	P	0.349	0.42787	B	0.000042	0.53742	D	0.158846	0.999996	0.58761	D	2.12	0.58754	M	.	.	.	-4.71	0.86758	D	0.76	0.76203	-0.2591	0.76112	T	0.322	0.69099	T	9	0.009613246	0.00216	T	.	.	.	0.270	0.58507	.	.	0.200317383148	0.19677	0.759119006883672	0.75859	0.288874388645	0.31295	0.758190274239	0.75661	T	0.137538	0.47052	T	-0.0836313	0.39122	T	0.108184	0.77452	D	0.0398559482146474	0.03663	T	0.918508	0.70719	D	0.28850517	0.51853	0.41023013	0.65289	0.28850517	0.51853	0.41023013	0.65289	-7.194	0.55438	T	.	.	0.453	0.62361	A	.;.	.;.	4.433153	0.68763	25.3	0.99890568321999507	0.96436	0.98692	0.85647	D	AEFBI	0.671806	0.63842	D	0.57687192193847	0.71733	5.695974	0.59363891028568	0.74483	6.144599	0.999999993337978	0.74766	0.732398	0.92422	0	0.672317	0.65289	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	5.951000	0.69992	7.893000	0.73158	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.0:1.0	15.469	0.75152	766	0.49742	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002546	0.000000	0.002717	0.000000	0.000000	0.000000	0.006250	0.003846	0.07143	198.63	27	chr3	185496952	.	T	C	198.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.478;DP=198;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.64;ReadPosRankSum=-0.468;SOR=0.766	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr3	188866255	188866255	G	A	exonic	LPP	.	nonsynonymous SNV	LPP:NM_001167672:exon8:c.G1025A:p.R342Q,LPP:NM_001375465:exon8:c.G1466A:p.R489Q,LPP:NM_001375455:exon9:c.G1466A:p.R489Q,LPP:NM_001375456:exon9:c.G1466A:p.R489Q,LPP:NM_001375458:exon9:c.G1466A:p.R489Q,LPP:NM_001375459:exon9:c.G1466A:p.R489Q,LPP:NM_001375461:exon9:c.G1466A:p.R489Q,LPP:NM_001375463:exon9:c.G1466A:p.R489Q,LPP:NM_005578:exon9:c.G1466A:p.R489Q,LPP:NM_001167671:exon10:c.G1466A:p.R489Q,LPP:NM_001375457:exon10:c.G1466A:p.R489Q,LPP:NM_001375460:exon10:c.G1466A:p.R489Q,LPP:NM_001375462:exon10:c.G1466A:p.R489Q,LPP:NM_001375464:exon10:c.G1466A:p.R489Q	Leukemia, acute myeloid, Autosomal dominant;Lipoma (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.812	0.0222470864649	7.7e-05	.	3.407e-05	0	8.666e-05	0	0	4.57e-05	0	0	2.59e-05	4	154602	rs374105476	2.864e-05	3.078e-05	3.472e-05	2.248e-05	0.0001	2.131e-05	1.918e-05	3.578e-05	2.169e-05	3.111e-05	9.777e-05	0	0.0001	0	0	2.92e-05	0	0	2.63e-05	2.627e-05	3.856e-05	1.346e-05	5.88e-05	8.15e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	.	.	.	0.0	0.92824	D	0.975	0.58077	D	0.746	0.55899	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.68	0.16426	N	.	.	.	.	.	.	0.862	0.85872	0.252	0.86776	D	0.737	0.91001	D	10	0.7553927	0.75943	D	0.022247	0.45119	T	.	.	.	.	0.854477972505	0.85307	0.46407653522315256	0.46326	.	.	0.669995248318	0.62837	T	0.11385	0.81284	T	0.276243	0.80990	D	0.342419	0.90014	D	0.736991807787516	0.42576	D	0.969303	0.88939	D	0.7809619	0.82713	0.72176063	0.83570	0.7809619	0.82714	0.72176063	0.83571	-12.353	0.86528	D	.	.	0.886	0.86413	P	.;.;.	.;.;.	6.069346	0.94485	34	0.99958896396705699	0.99990	0.99026	0.90144	D	AEFGBI	0.910145	0.86767	D	0.731365841528256	0.81690	7.581331	0.771617797446611	0.87760	9.334951	0.999999999999529	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.86	5.86	0.93936	9.602000	0.97623	11.868000	0.98498	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	19.160	0.93514	949	0.11373	Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2345.44	33	chr3	188866255	.	G	A	2345.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.145;DP=355;ExcessHet=0;FS=0.567;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-0.351;SOR=0.618	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1376	6	0	1	0
chr3	191375401	191375401	G	C	exonic	CCDC50	.	nonsynonymous SNV	CCDC50:NM_178335:exon6:c.G788C:p.R263P	.	0	1520	2	0	0	2	0.000657462	.	.	.	3189690	CCDC50-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.033	0.013774390107	.	0.000199681	0.0002	0	0	0	0	0	0	0.0012	0.0001294	20	154602	rs534593003	6.842e-05	6.84e-05	2.315e-05	0.0001	0.0011	5.714e-05	5.327e-05	0.0010	0.0009	0	0	0	0	0	0	0	3.312e-05	0.0011	2.628e-05	2.625e-05	1.286e-05	4.031e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	.	.	.	.	.	.	0.001	0.07471	B	0.005	0.11217	B	0.120016	0.19052	N	0.446213	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0289	0.20811	T	0.063	0.26314	T	9	0.011402369	0.00249	T	0.013774	0.33422	T	.	.	0.416	0.45544	.	.	0.11786730302800535	0.11713	.	.	0.22729498148	0.01774	T	.	.	.	-0.579201	0.00195	T	-0.65031	0.08933	T	0.051997432417775	0.05846	T	0.550545	0.18982	T	.	.	.	.	.	.	.	.	-4.204	0.26809	T	.	.	0.125	0.26357	B	.	.	0.575422	0.09437	6.218	0.9387872604021219	0.23895	0.07267	0.13291	N	AEFGBI	0.161821	0.28792	N	-0.780366745167671	0.13821	0.6837624	-0.808996097227649	0.14278	0.7452126	0.999902855414561	0.45458	0.632932	0.41330	0	0.379588	0.06130	0	0.601832	0.32385	0	0.662433	0.64102	0	.	.	5.78	1.82	0.24209	-0.249000	0.08861	-0.453000	0.09087	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.035000	0.13729	0.0769:0.4073:0.5158:0.0	9.420	0.37707	968	0.07033	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.07143	3046.46	33	chr3	191375401	.	G	C	3046.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.79;DP=546;ExcessHet=0;FS=8.253;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.54;ReadPosRankSum=0.394;SOR=0.81	GT:AD:DP:GQ:PL	0/0:198,0:198:99:0,120,1800	6	0	1	0
chr3	195725265	195725265	C	T	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.C662T:p.P221L,MUC20:NM_020790:exon3:c.C548T:p.P183L	.	1227	268	12	15	0	42	0.0726644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0279939078184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1178367301	0.0039	0.0022	0.0035	0.0042	0.0229	0.0036	0.0034	0.0194	0.0181	0	0.0229	0.0016	0.0004	0.0035	0	0.0017	0.0016	0.0098	0.0909	0.0077	0	0.1667	0.2500	0.0162	0.0068	.	.	.	.	0.2500	.	0	0.5000	.	0	.	.	0.935	0.05501	T	0.009	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.97	0.13795	T	-0.71	0.20145	N	0.071	0.04426	-0.9482	0.41279	T	0.016	0.06473	T	5	0.0043722987	0.00089	T	0.027994	0.50737	D	0.012	0.01476	0.268	0.21576	.	.	0.08169079549289465	0.08104	.	.	.	.	.	0.002482	0.09657	T	-0.314255	0.07379	T	-0.689182	0.06436	T	0.0349274069218366	0.02795	T	.	.	.	0.046044763	0.07641	0.13236813	0.31765	0.046044763	0.07640	0.13236813	0.31764	-7.122	0.54919	T	.	.	0.357	0.69288	A	.;.;.	.;.;.	0.983081	0.13607	10.14	0.97336882581047512	0.33452	0.00384	0.01939	N	AEFI	0.051030	0.08975	N	-0.961609506576599	0.09433	0.4464343	-1.14477772820503	0.06862	0.3317746	1.15960121852374E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	1.090000	0.30514	0.659000	0.20486	0.196000	0.17891	0.011000	0.18532	0.001000	0.17328	0.019000	0.11356	.	.	.	851	0.35303	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	429.19	.	chr3	195725265	.	C	T	429.19	.	AC=3;AF=0.5;AN=6;BaseQRankSum=0.842;DP=31;ExcessHet=0;FS=0;MLEAC=5;MLEAF=0.833;MQ=29.51;MQRankSum=-0.859;QD=17.88;ReadPosRankSum=1.2;SOR=1.201	GT:AD:DP:GQ:PL	./.:5,0:5:0:0,0,50	1	1	1	4
chr3	195725634	195725635	CC	-	exonic	MUC20	.	frameshift deletion	MUC20:NM_001282506:exon2:c.1031_1032del:p.A344Vfs*61	.	1216	292	5	0	9	14	0.00848896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1203696921	0.0308	0.0076	0.0327	0.0293	0.1476	0.0300	0.0297	0.1285	0.1212	0.1476	0.0214	0.0717	0.0385	0.0200	0.0412	0.0309	0.0378	0.0218	0.0147	0.0018	0.0312	0	0.0455	0.0040	0.0021	0.0044	0.0019	0.0455	0	0	0	0	0	0	0.0250	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1204.8	1	chr3	195725633	.	GCC	G	1204.8	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-2.932;DP=186;ExcessHet=0;FS=7.309;MLEAC=1;MLEAF=0.125;MQ=36.47;MQRankSum=2.66;QD=13.24;ReadPosRankSum=0.678;SOR=0.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:20,0:20:60:.:.:0,60,690:.	3	0	1	3
chr3	195725637	195725748	CAGAGAGCAGCGCCTCTTCCGACGGCCTCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGC	-	exonic	MUC20	.	frameshift deletion	MUC20:NM_001282506:exon2:c.1034_1145del:p.E346Qfs*32,MUC20:NM_001291833:exon4:c.556_632del:p.V186Lfs*23,MUC20:NM_020790:exon4:c.613_689del:p.P205Gfs*24	.	1183	326	9	0	4	13	0.0136157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0202	0.0050	0.0209	0.0196	0.0718	0.0195	0.0193	0.0591	0.0545	0.0718	0.0127	0.0488	0.0280	0.0132	0.0281	0.0199	0.0246	0.0154	0.0430	0.0010	0.0571	0.0309	0.1562	0.0255	0.0202	0.0616	0.0400	0.1562	0	0.0208	0.1667	0	0	0	0.0469	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	876.46	1	chr3	195725636	.	TCAGAGAGCAGCGCCTCTTCCGACGGCCTCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGC	T	876.46	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-2.39;DP=297;ExcessHet=0;FS=13.237;MLEAC=1;MLEAF=0.167;MQ=37.43;MQRankSum=0.769;QD=4.52;ReadPosRankSum=0.881;SOR=0.899	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:22,0:22:26:.:.:0,26,691:.	2	0	1	4
chr3	195725664	195725778	TCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCC	0	exonic	MUC20	.	.	.	.	1209	279	4	0	30	34	0.00711744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1495.05	10	chr3	195725664	.	TCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCC	*	1495.05	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.252;DP=562;ExcessHet=2.4304;FS=11.803;MLEAC=1;MLEAF=0.167;MQ=36.86;MQRankSum=-0.045;QD=3.17;ReadPosRankSum=2.99;SOR=0.406	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:47,0:47:0:.:.:0,0,247:.	2	0	1	4
chr3	195725774	195725774	G	0	exonic	MUC20	.	.	.	.	455	1029	13	0	25	38	0.00627716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	95.38	34	chr3	195725774	.	G	*	95.38	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.716;DP=600;ExcessHet=0.3476;FS=11.715;MLEAC=1;MLEAF=0.083;MQ=37.51;MQRankSum=-0.512;QD=0.26;ReadPosRankSum=0.629;SOR=0.518	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:49,0:49:99:.:.:0,120,1800:.	5	0	1	1
chr3	195779059	195779059	C	0	exonic	MUC4	.	.	.	.	665	654	51	57	95	260	0.112016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	265.06	181	chr3	195779059	.	C	*	265.06	.	AC=3;AF=0.5;AN=6;DP=1688;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.667;MQ=52.07;QD=0.59;SOR=0.978	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,261:273:99:1|1:195779059_C_*:9549,679,0:195779059	1	1	1	4
chr3	195779136	195779136	G	0	exonic	MUC4	.	.	.	.	440	961	82	1	38	122	0.0418744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	324.39	191	chr3	195779136	.	G	*	324.39	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.267;DP=1800;ExcessHet=0.3476;FS=0.663;MLEAC=1;MLEAF=0.083;MQ=47.3;MQRankSum=-2.341;QD=0.44;ReadPosRankSum=-6.898;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:242,0:242:99:.:.:0,120,1800:.	5	0	1	1
chr3	195779166	195779166	G	0	exonic	MUC4	.	.	.	.	685	574	152	54	57	317	0.184659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	136.43	226	chr3	195779166	.	G	*	136.43	.	AC=1;AF=0.125;AN=8;BaseQRankSum=1.21;DP=1849;ExcessHet=0.5115;FS=0;MLEAC=1;MLEAF=0.125;MQ=54.84;MQRankSum=-3.858;QD=0.31;ReadPosRankSum=1.33;SOR=0.68	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:366,0:366:0:.:.:0,0,0:.	3	0	1	3
chr3	195779220	195779220	A	0	exonic	MUC4	.	.	.	.	729	613	71	27	82	207	0.0925241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1269.43	217	chr3	195779220	.	A	*	1269.43	.	AC=1;AF=0.125;AN=8;BaseQRankSum=1.74;DP=1617;ExcessHet=0.6695;FS=1.222;MLEAC=1;MLEAF=0.125;MQ=53.16;MQRankSum=-4.102;QD=2.23;ReadPosRankSum=-2.586;SOR=0.785	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:247,0:247:0:.:.:0,0,0:.	3	0	1	3
chr3	195779228	195779228	T	0	exonic	MUC4	.	.	.	.	740	633	67	26	56	175	0.0859206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1118.43	209	chr3	195779228	.	T	*	1118.43	.	AC=1;AF=0.125;AN=8;BaseQRankSum=3.09;DP=1540;ExcessHet=0.5115;FS=1.237;MLEAC=1;MLEAF=0.125;MQ=52.73;MQRankSum=-3.575;QD=1.99;ReadPosRankSum=-4.106;SOR=0.789	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:211,0:211:0:.:.:0,0,0:.	3	0	1	3
chr3	195779323	195779323	-	GGCTGGTGA	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.12256_12257insTCACCAGCC:p.A4086delinsVTSP	.	523	985	7	3	4	17	0.00655572	.	.	.	2825170	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	6.176e-05	0	0	0	0	0.0002	0	0	.	.	.	rs763983596	0.0007	0.0006	0.0006	0.0008	0.0021	0.0007	0.0006	0.0018	0.0017	0.0005	6.912e-05	0.0102	0	0	0.0017	0.0004	0.0013	0.0021	0.0002	0.0004	0.0002	0.0003	0.0011	0.0001	0.0001	0.0003	0.0002	0	0	0	0.0024	0	0	0	0.0003	0	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3278.19	74	chr3	195779323	.	G	GGGCTGGTGA	3278.19	.	AC=2;AF=0.143;AN=14;DP=880;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=45.1;QD=29.86;SOR=1.371	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:30,0:30:90:.:.:0,90,959:.	6	1	0	0
chr3	195779325	195779325	-	TGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTG	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.12254_12255insCACTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCA:p.D4085_A4086insTSSASTGHATPLH	.	723	766	9	4	20	37	0.0109748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.576e-05	0	0	0	0	0.0002	0	0	.	.	.	.	0.0008	0.0006	0.0007	0.0010	0.0024	0.0008	0.0008	0.0021	0.0020	0.0005	9.332e-05	0.0158	0	0	0.0023	0.0005	0.0017	0.0024	0.0003	0.0008	0.0001	0.0004	0.0026	0.0002	0.0001	0.0007	0.0004	0	0	0	0.0050	0	0	0	0.0002	0	0.0026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3946.94	89	chr3	195779325	.	A	ATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTG	3946.94	.	AC=2;AF=0.25;AN=8;DP=898;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.375;MQ=44.62;QD=29.34;SOR=1.27	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:31,0:31:0:.:.:0,0,0:.	3	1	0	3
chr3	195779432	195779432	G	0	exonic	MUC4	.	.	.	.	488	764	33	32	205	302	0.0596923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	5076.52	56	chr3	195779432	.	G	*	5076.52	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.918;DP=1202;ExcessHet=0.0509;FS=0.521;MLEAC=5;MLEAF=0.357;MQ=59.66;MQRankSum=0.053;QD=5.16;ReadPosRankSum=0.117;SOR=0.787	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	4	2	1	0
chr3	195779602	195779602	A	0	exonic	MUC4	.	.	.	.	601	683	22	17	199	255	0.0393812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	12666.1	121	chr3	195779602	.	A	*	12666.1	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.629;DP=1059;ExcessHet=0.0509;FS=0.52;MLEAC=3;MLEAF=0.214;MQ=56.52;MQRankSum=-11.84;QD=12.89;ReadPosRankSum=-5.273;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:14,0:14:39:.:.:0,39,585:.	5	1	1	0
chr3	195779629	195779724	GGGGTGGCGTGACCTGTGGATGCTGAGGAACGGCTGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGA	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_001322468:exon16:c.10128_10215del:p.S3377Tfs*95	.	868	396	38	54	166	312	0.15565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.173e-05	7.061e-06	0	2.338e-05	0.0012	3.12e-06	8.7e-07	3.321e-05	1.365e-05	0	0.0002	0	0	0	0.0012	0	0	0	0	9.376e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	5471.18	123	chr3	195779628	.	GGGGGTGGCGTGACCTGTGGATGCTGAGGAACGGCTGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGA	G	5471.18	.	AC=2;AF=0.25;AN=8;DP=1142;ExcessHet=0;FS=1.099;MLEAC=3;MLEAF=0.375;MQ=54.52;QD=8.66;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:10,0:10:0:.:.:0,0,0:.	3	1	0	3
chr3	195779628	195779724	GGGGGTGGCGTGACCTGTGGATGCTGAGGAACGGCTGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGA	0	exonic	MUC4	.	.	.	.	868	396	38	54	166	312	0.15565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	5471.18	123	chr3	195779628	.	GGGGGTGGCGTGACCTGTGGATGCTGAGGAACGGCTGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGA	*	5471.18	.	AC=3;AF=0.375;AN=8;DP=1142;ExcessHet=0;FS=1.099;MLEAC=4;MLEAF=0.5;MQ=54.52;QD=8.66;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:10,0:10:0:.:.:0,0,0:.	2	1	1	3
chr3	195779779	195779779	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C11801T:p.A3934V	.	600	874	3	9	36	57	0.0118711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00327910076655	.	.	6.677e-05	0	0	0	0.0009	0	0	0	.	.	.	rs112027608	0.0007	0.0022	0.0006	0.0008	0.0028	0.0007	0.0006	0.0022	0.0020	0.0002	0.0003	0.0014	0.0028	0.0041	0.0003	0.0005	0.0009	0.0006	5.906e-05	0.0003	0.0001	0	9.035e-05	2.326e-05	1.453e-05	1.979e-05	1.048e-05	9.035e-05	0	0	0	0	0	0	7.465e-05	0	0	0.423	0.09746	T	0.393	0.15746	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.25515	N	.	.	.	1.33	0.35031	T	-0.53	0.16393	N	0.035	0.01999	-1.0151	0.25304	T	0.043	0.18576	T	6	0.029459447	0.01072	T	0.003279	0.07268	T	0.018	0.03083	0.205	0.12076	0.0138822411134	0.00435	0.0017600896857898872	0.00163	.	.	0.509031713009	0.40087	T	.	.	.	-0.324223	0.06558	T	-0.703501	0.05636	T	0.0235782377466411	0.01093	T	0.686031	0.29438	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.25331	B	.;.	.;.	0.060896	0.04720	1.352	0.93910929547238409	0.23946	0.00624	0.02752	N	AEFBI	0.059095	0.11135	N	-1.3016471889903	0.03657	0.1637367	-1.42224578363642	0.03030	0.1405921	1.54978405088282E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	1.321000	0.33283	0.221000	0.16075	0.178000	0.17791	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	.	.	.	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006422	0.007353	0.000000	0.000000	0.000000	0.000000	0.026316	0.000000	0.1667	118.06	127	chr3	195779779	.	G	A	118.06	.	AC=2;AF=0.167;AN=12;DP=990;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=57.67;QD=32;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	5	1	0	1
chr3	195779882	195779882	G	0	exonic	MUC4	.	.	.	.	827	38	93	396	168	1053	0.920916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	20882.0	118	chr3	195779882	.	G	*	20882.0	.	AC=5;AF=0.5;AN=10;DP=1301;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.6;MQ=59.19;QD=20.9;SOR=0.774	GT:AD:DP:GQ:PL	./.:70,0:70:0:0,0,0	2	2	1	2
chr3	195780034	195780034	A	0	exonic;splicing	MUC4;MUC4	NM_001322468:exon15:c.10105+1T>0	.	.	.	487	564	422	42	7	513	0.30967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	6283.65	148	chr3	195780034	.	A	*	6283.65	.	AC=5;AF=0.357;AN=14;DP=1829;ExcessHet=0.3696;FS=0;MLEAC=5;MLEAF=0.357;MQ=53.76;QD=5.53;SOR=0.7	GT:AD:DP:GQ:PL	0/1:65,183:248:99:5046,0,2193	3	1	3	0
chr3	195780034	195780034	-	CTGAGGAAGTGTCGGTGACAGGAAGGGGGGTGGTGTCACCTGTGGATG	exonic;splicing	MUC4;MUC4	NM_001322468:exon15:c.10105+1->CATCCACAGGTGACACCACCCCCCTTCCTGTCACCGACACTTCCTCAG	nonframeshift insertion	MUC4:NM_018406:exon2:c.11545_11546insCATCCACAGGTGACACCACCCCCCTTCCTGTCACCGACACTTCCTCAG:p.S3848_V3849insASTGDTTPLPVTDTSS	.	487	564	422	42	7	513	0.30967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	6283.65	148	chr3	195780034	.	A	ACTGAGGAAGTGTCGGTGACAGGAAGGGGGGTGGTGTCACCTGTGGATG	6283.65	.	AC=2;AF=0.143;AN=14;DP=1829;ExcessHet=0.3696;FS=0;MLEAC=2;MLEAF=0.143;MQ=53.76;QD=5.53;SOR=0.7	GT:AD:DP:GQ:PL	0/0:65,0:248:99:5046,5240,7864	6	1	0	0
chr3	195780371	195780371	-	TGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGA	exonic;splicing	MUC4;MUC4	NM_001322468:exon15:c.9770-1->TCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAGCACTTCCTCA	nonframeshift insertion	MUC4:NM_018406:exon2:c.11208_11209insTCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAGCACTTCCTCA:p.S3736_A3737insSSTGQATPLPVTSTSS	.	1	82	100	38	5	181	0.517647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0077	0	0	0	0.0041	0	0.0003	0.0001488	23	154602	.	0.0070	0.0048	0.0071	0.0070	0.0084	0.0069	0.0068	0.0073	0.0069	0.0045	0.0084	0.0061	4.682e-05	0.0248	0.0074	0.0066	0.0096	0.0022	0.0055	0.0036	0.0050	0.0059	0.0068	0.0049	0.0047	0.0059	0.0055	0.0022	0	0.0068	0.0038	0.0008	0.0134	0	0.0068	0.0088	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	25007.5	76	chr3	195780371	.	C	CTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGA	25007.5	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.771;DP=2727;ExcessHet=0.4813;FS=2.564;MLEAC=1;MLEAF=0.1;MQ=57.3;MQRankSum=-1.72;QD=32.52;ReadPosRankSum=2.44;SOR=0.532	GT:AD:DP:GQ:PL	0/1:9,158:265:99:14720,4257,9641	4	0	1	2
chr3	195780499	195780499	G	0	exonic	MUC4	.	.	.	.	0	114	53	2	57	114	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	5427.33	274	chr3	195780499	.	G	*	5427.33	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.61;DP=2105;ExcessHet=0.3696;FS=0.662;MLEAC=2;MLEAF=0.143;MQ=54.04;MQRankSum=-0.232;QD=3.65;ReadPosRankSum=-2.018;SOR=0.627	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:10,467:505:99:0|1:195780452_T_C:20159,1843,737:195780452	5	0	2	0
chr3	195780501	195780501	C	0	exonic	MUC4	.	.	.	.	741	294	218	40	229	527	0.336343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	7710.94	269	chr3	195780501	.	C	*	7710.94	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.08;DP=2073;ExcessHet=0.3696;FS=1.437;MLEAC=2;MLEAF=0.167;MQ=53.96;MQRankSum=-0.18;QD=5.05;ReadPosRankSum=-1.407;SOR=0.549	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,467:503:99:1|0:195780492_AGGGGTGGCCT_A:20981,2107,924:195780492	4	0	2	1
chr3	195780510	195780510	G	0	exonic	MUC4	.	.	.	.	1	126	41	1	57	100	0.145763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3056.3	257	chr3	195780510	.	G	*	3056.3	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.071;DP=2003;ExcessHet=0.3696;FS=1.441;MLEAC=2;MLEAF=0.143;MQ=53.49;MQRankSum=-0.124;QD=2.16;ReadPosRankSum=-2.632;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:8,472:492:38:0|1:195780452_T_C:19950,1187,38:195780452	5	0	2	0
chr3	195780514	195780514	G	0	exonic	MUC4	.	.	.	.	30	98	40	1	57	99	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2607.68	322	chr3	195780514	.	G	*	2607.68	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.45;DP=2310;ExcessHet=0.0509;FS=1.623;MLEAC=3;MLEAF=0.25;MQ=53.75;MQRankSum=2.85;QD=1.88;ReadPosRankSum=0.076;SOR=0.496	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:10,472:487:99:1|1:195780452_T_C:20094,1184,0:195780452	4	1	1	1
chr3	195780526	195780529	TCCG	0	exonic	MUC4	.	.	.	.	603	642	21	1	255	278	0.0175976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1635.4	204	chr3	195780526	.	TCCG	*	1635.4	.	AC=4;AF=0.333;AN=12;DP=2183;ExcessHet=0;FS=8.544;MLEAC=4;MLEAF=0.333;MQ=53.95;QD=1.39;SOR=0.211	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:14,472:488:99:1|1:195780452_T_C:19874,979,0:195780452	4	2	0	1
chr3	195781220	195781220	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	15114.0	228	chr3	195781220	.	T	*	15114.0	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.767;DP=2130;ExcessHet=0.4813;FS=0.546;MLEAC=1;MLEAF=0.071;MQ=58.7;MQRankSum=10.38;QD=17.89;ReadPosRankSum=1.3;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:298,0:298:99:.:.:0,120,1800:.	6	0	1	0
chr3	195781230	195781230	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	5098.35	200	chr3	195781230	.	A	*	5098.35	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.542;DP=2167;ExcessHet=0.3476;FS=0.545;MLEAC=1;MLEAF=0.083;MQ=54.82;MQRankSum=-3.19;QD=10.71;ReadPosRankSum=-9.625;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:279,0:445:99:.:.:5108,5532,16395:.	5	0	1	1
chr3	195781237	195781237	-	AGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTGACCTGTGCATGCTA	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.10342_10343insTAGCATGCACAGGTCACACCACCCCTCTTCCTGTCACCAGCCCTTCCT:p.S3447_S3448insLACTGHTTPLPVTSPS,MUC4:NM_001322468:exon12:c.9142_9143insTAGCATGCACAGGTCACACCACCCCTCTTCCTGTCACCAGCCCTTCCT:p.T3048_A4615delinsIACTGHTTPLPVTSPSSSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-05	3.762e-05	9.214e-06	1.502e-05	0.0002	6.75e-06	5.2e-06	8.847e-05	6.704e-05	0	0	0	0	0	0	2.444e-06	2.201e-05	0.0002	0	9.352e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	18647.3	293	chr3	195781237	.	G	GAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTGACCTGTGCATGCTA	18647.3	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.952;DP=2601;ExcessHet=2.5225;FS=3.383;MLEAC=1;MLEAF=0.083;MQ=56.52;MQRankSum=-7.934;QD=11.63;ReadPosRankSum=-8.785;SOR=0.987	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:396,167:563:99:.:.:4705,0,15646:.	5	0	1	1
chr3	195781237	195781237	G	0	exonic	MUC4	.	.	.	.	457	758	281	0	26	307	0.156372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	18647.3	293	chr3	195781237	.	G	*	18647.3	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.952;DP=2601;ExcessHet=2.5225;FS=3.383;MLEAC=1;MLEAF=0.083;MQ=56.52;MQRankSum=-7.934;QD=11.63;ReadPosRankSum=-8.785;SOR=0.987	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:396,0:563:99:.:.:4705,5906,22053:.	5	0	1	1
chr3	195781292	195781292	T	0	exonic	MUC4	.	.	.	.	432	934	41	0	115	156	0.0214772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	4524.16	371	chr3	195781292	.	T	*	4524.16	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.23;DP=2945;ExcessHet=1.1394;FS=0;MLEAC=1;MLEAF=0.083;MQ=58.57;MQRankSum=1.07;QD=3.54;ReadPosRankSum=1.87;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:732,0:732:99:.:.:0,120,1800:.	5	0	1	1
chr3	195781486	195781486	-	CGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGT	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.10093_10094insACACTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCG:p.T3364_G3365insDTSSASTGHATPLPVT,MUC4:NM_001322468:exon12:c.8893_8894insACACTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCG:p.G2965_A4615delinsDTSSASTGHATPLPVTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	419	1084	11	6	2	25	0.0104975	.	.	.	3185992	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0057	0.0008	0.0115	0	0.0005	0.0085	0.0037	0.0046	0.0001537	4	26028	rs780551832	0.0069	0.0087	0.0067	0.0070	0.0137	0.0067	0.0067	0.0109	0.0100	0.0042	0.0113	0.0123	0.0005	0.0034	0.0137	0.0072	0.0094	0.0030	0.0034	0.0072	0.0037	0.0032	0.0053	0.0032	0.0031	0.0048	0.0046	0.0010	0	0.0044	0.0064	0	0.0007	0	0.0053	0.0059	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	5497.4	204	chr3	195781486	.	C	CCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGT	5497.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.736;DP=2778;ExcessHet=0;FS=7.02;MLEAC=1;MLEAF=0.071;MQ=57.61;MQRankSum=-11.9;QD=15.71;ReadPosRankSum=-3.442;SOR=0.801	GT:AD:DP:GQ:PL	0/0:607,0:607:99:0,120,1800	6	0	1	0
chr3	195781535	195781582	CGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.9998_10045del:p.S3333_D3349delinsN,MUC4:NM_001322468:exon12:c.8819_8845del:p.V2940_A4615delinsGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	432	1084	3	0	3	6	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0005	0	0.0037	0	0.0017	0	0.0003	.	.	.	rs773375978	4.072e-05	0.0059	4.243e-05	3.896e-05	0.0003	3.176e-05	2.88e-05	2.611e-05	2.317e-05	0	3.061e-05	0.0002	9.239e-05	0.0001	0.0003	3.566e-05	5.609e-05	0	0.0005	0.0035	0.0005	0.0005	0.0015	0.0004	0.0004	0.0007	0.0005	0.0002	0	0.0008	0.0009	0.0015	0.0006	0	0.0005	0.0016	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1063.2	204	chr3	195781534	.	TCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	T	1063.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=4.84;DP=2822;ExcessHet=0.3476;FS=3.565;MLEAC=2;MLEAF=0.143;MQ=55.75;MQRankSum=-8.472;QD=0.64;ReadPosRankSum=-3.335;SOR=1.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:576,53:629:99:0|1:195781522_A_G:291,0,23593:195781522	5	0	2	0
chr3	195781535	195781535	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	91.83	204	chr3	195781535	.	C	*	91.83	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.538;DP=2823;ExcessHet=1.1394;FS=3.565;MLEAC=2;MLEAF=0.143;MQ=56.99;MQRankSum=-4.922;QD=0.05;ReadPosRankSum=0.223;SOR=1.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:576,53:629:99:0|1:195781522_A_G:291,0,23593:195781522	5	0	2	0
chr3	195781545	195781545	C	0	exonic	MUC4	.	.	.	.	447	984	72	8	11	99	0.0428016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	99.24	204	chr3	195781545	.	C	*	99.24	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.122;DP=2670;ExcessHet=0.3476;FS=3.494;MLEAC=1;MLEAF=0.1;MQ=56.48;MQRankSum=-4.308;QD=0.15;ReadPosRankSum=-0.465;SOR=1.198	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:576,53:629:99:0|1:195781522_A_G:291,0,23593:195781522	4	0	1	2
chr3	195781547	195781547	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	98.58	204	chr3	195781547	.	C	*	98.58	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.03;DP=2701;ExcessHet=1.1394;FS=3.146;MLEAC=2;MLEAF=0.167;MQ=57.2;MQRankSum=-4.308;QD=0.07;ReadPosRankSum=-0.772;SOR=1.096	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:576,53:629:99:0|1:195781522_A_G:291,0,23593:195781522	4	0	2	1
chr3	195781555	195781555	-	CC	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.10024_10025insGG:p.T3342Rfs*918,MUC4:NM_001322468:exon12:c.8824_8825insGG:p.S2942Rfs*560	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673	0.0116	0.0319	0.0508	0.1072	0.0441	0.1087	0.1044	.	.	.	rs767488255	3.671e-05	0.0020	3.447e-05	3.903e-05	0.0003	2.783e-05	2.478e-05	5.335e-05	3.146e-05	0.0002	6.518e-05	4.921e-05	3.324e-05	0.0003	0.0003	1.933e-05	0.0001	0	0.0008	0.0046	0.0007	0.0010	0.0018	0.0007	0.0007	0.0010	0.0007	0.0010	0	0.0009	0.0006	0.0018	0.0015	0	0.0006	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	59.35	204	chr3	195781555	.	G	GCC	59.35	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.681;DP=2530;ExcessHet=0.3476;FS=2.198;MLEAC=1;MLEAF=0.083;MQ=56.78;MQRankSum=-3.981;QD=0.09;ReadPosRankSum=-0.672;SOR=1.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:576,0:629:99:0|1:195781522_A_G:291,2022,25772:195781522	5	0	1	1
chr3	195781555	195781555	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	59.35	204	chr3	195781555	.	G	*	59.35	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.681;DP=2530;ExcessHet=0.3476;FS=2.198;MLEAC=1;MLEAF=0.083;MQ=56.78;MQRankSum=-3.981;QD=0.09;ReadPosRankSum=-0.672;SOR=1.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:576,53:629:99:0|1:195781522_A_G:291,0,23593:195781522	5	0	1	1
chr3	195781558	195781559	TC	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.10021_10022del:p.D3341Hfs*32,MUC4:NM_001322468:exon12:c.8821_8822del:p.T2941Qfs*9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0681	0.0117	0.0346	0.0520	0.1081	0.0448	0.1087	0.1052	.	.	.	rs760242746	4.615e-05	0.0025	4.469e-05	4.764e-05	0.0005	3.567e-05	3.224e-05	0.0003	0.0002	0.0005	6.619e-05	0	3.409e-05	0.0004	0.0003	2.124e-05	8.638e-05	0	0.0007	0.0048	0.0006	0.0008	0.0018	0.0006	0.0005	0.0009	0.0007	0.0008	0	0.0009	0.0007	0.0018	0.0014	0	0.0005	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	59.35	204	chr3	195781557	.	GTC	G	59.35	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.15;DP=2535;ExcessHet=0.3476;FS=2.198;MLEAC=1;MLEAF=0.083;MQ=56.46;MQRankSum=-3.981;QD=0.09;ReadPosRankSum=-1.64;SOR=1.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:576,0:629:99:0|1:195781522_A_G:291,2022,25772:195781522	5	0	1	1
chr3	195781557	195781559	GTC	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	59.35	204	chr3	195781557	.	GTC	*	59.35	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.15;DP=2535;ExcessHet=0.3476;FS=2.198;MLEAC=1;MLEAF=0.083;MQ=56.46;MQRankSum=-3.981;QD=0.09;ReadPosRankSum=-1.64;SOR=1.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:576,53:629:99:0|1:195781522_A_G:291,0,23593:195781522	5	0	1	1
chr3	195781618	195781666	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	469	535	446	20	52	538	0.312339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	19114.9	194	chr3	195781618	.	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	*	19114.9	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.667;DP=2134;ExcessHet=0.0509;FS=0;MLEAC=3;MLEAF=0.25;MQ=51.82;MQRankSum=5.48;QD=14.16;ReadPosRankSum=5.37;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:18,116:305:99:.:.:11125,6168,7405:.	3	0	3	1
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	13811.8	197	chr3	195781628	.	C	*	13811.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=2.55;DP=2021;ExcessHet=1.1394;FS=1.351;MLEAC=7;MLEAF=0.5;MQ=55.87;MQRankSum=-2.156;QD=7.01;ReadPosRankSum=0.308;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,294:303:99:1|1:195781522_A_G:12824,885,0:195781522	2	2	3	0
chr3	195781727	195781727	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G9853A:p.D3285N,MUC4:NM_001322468:exon11:c.G8749A:p.D2917N	.	459	1061	2	0	0	2	0.00094162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000773422716589	.	.	0.0003	0.0030	0	0	0	0	0	0.0001	.	.	.	rs1217189945	0.0001	0.0007	0.0002	0.0001	0.0062	0.0001	0.0001	0.0054	0.0051	0.0062	9.154e-05	0	0.0001	0	0.0003	1.536e-05	0.0001	2.687e-05	0.0001	0.0007	0.0001	0.0001	0.0005	6.831e-05	5.35e-05	0.0001	9.894e-05	0.0003	0	0.0003	0	0.0005	0	0	1.774e-05	0	0	0.207	0.19854	T	0.46	0.12668	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.5	0.31731	T	-0.12	0.08809	N	0.056	0.02759	-1.0032	0.28992	T	0.029	0.12365	T	8	0.011815995	0.00257	T	7.73E-4	0.00568	T	0.021	0.04004	.	.	0.0138822411134	0.00435	2.743603196124897E-4	0.00024	.	.	0.540704369545	0.44544	T	.	.	.	-0.401285	0.02271	T	-0.814195	0.01573	T	0.0193586512932325	0.00641	T	0.670833	0.27951	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.15921	B	.;.	.;.	2.066037	0.26275	17.06	0.92174777314428225	0.21539	0.00078	0.00535	N	AEFBI	0.051815	0.09190	N	-1.24298654278773	0.04392	0.198147	-1.33118792865804	0.04032	0.1893627	1.24445491729759E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.423	0.423	0.15679	-1.178000	0.03203	-0.090000	0.12069	0.084000	0.17577	0.001000	0.13787	0.000000	0.08366	0.023000	0.12082	1.0E-4:0.5559:0.444:1.0E-4	4.212	0.09970	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	216.44	37	chr3	195781727	.	C	T	216.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.4;DP=630;ExcessHet=0;FS=8.82;MLEAC=1;MLEAF=0.071;MQ=45.15;MQRankSum=3.84;QD=12.73;ReadPosRankSum=0.187;SOR=2.815	GT:AD:DP:GQ:PL	0/0:108,0:108:99:0,120,1800	6	0	1	0
chr3	195782160	195782207	GGTGACAGGAAGAGCGGTGGCCTGACCTGTGGATGCTGAGGAAGTGTC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.9373_9420del:p.D3125_T3140del	.	430	1052	8	0	32	40	0.00378788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077	0.0012	0.0348	0	0.0017	0.0160	0.0041	0.0014	0.0003428	53	154602	rs755633717	0.0082	0.0073	0.0079	0.0085	0.0193	0.0081	0.0080	0.0154	0.0140	0.0034	0.0153	0.0257	5.924e-05	0.0081	0.0193	0.0079	0.0148	0.0039	0.0060	0.0058	0.0062	0.0058	0.0092	0.0056	0.0054	0.0084	0.0081	0.0011	0.0129	0.0063	0.0131	0	0.0014	0	0.0092	0.0122	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	5407.14	202	chr3	195782159	.	TGGTGACAGGAAGAGCGGTGGCCTGACCTGTGGATGCTGAGGAAGTGTC	T	5407.14	.	AC=1;AF=0.125;AN=8;BaseQRankSum=2.5;DP=1867;ExcessHet=0;FS=3.644;MLEAC=1;MLEAF=0.125;MQ=55.03;MQRankSum=-13.02;QD=9.59;ReadPosRankSum=-1.059;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:294,0:294:0:.:.:0,0,5461:.	3	0	1	3
chr3	195782503	195782647	TGAAGAGGGGTGGCGTGACCTGTGGATATTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGACCTATGGATGCTGAGGAAGTGTCGGTGACAGGAAGAAGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGTCAG	0	exonic	MUC4	.	.	.	.	472	931	6	0	113	119	0.00321199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	2139.23	252	chr3	195782503	.	TGAAGAGGGGTGGCGTGACCTGTGGATATTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGACCTATGGATGCTGAGGAAGTGTCGGTGACAGGAAGAAGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGTCAG	*	2139.23	.	AC=4;AF=0.286;AN=14;BaseQRankSum=5.31;DP=2956;ExcessHet=0.4813;FS=0;MLEAC=4;MLEAF=0.286;MQ=53.38;MQRankSum=-6.898;QD=1.27;ReadPosRankSum=0.882;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:800,0:910:99:.:.:2149,4551,37287:.	4	1	2	0
chr3	195782548	195782644	ACAGGAAGAGAGGTGGCGTGACCTATGGATGCTGAGGAAGTGTCGGTGACAGGAAGAAGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGT	0	exonic	MUC4	.	.	.	.	0	198	26	0	2	28	0.0616114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3835.59	370	chr3	195782548	.	ACAGGAAGAGAGGTGGCGTGACCTATGGATGCTGAGGAAGTGTCGGTGACAGGAAGAAGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGT	*	3835.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=5.62;DP=2734;ExcessHet=0.3476;FS=1.893;MLEAC=1;MLEAF=0.071;MQ=53.32;MQRankSum=-1.453;QD=3.77;ReadPosRankSum=2.3;SOR=0.872	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:445,110:647:99:.:.:2484,0,27056:.	6	0	1	0
chr3	195782558	195782558	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	11022.0	370	chr3	195782558	.	A	*	11022.0	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.92;DP=2625;ExcessHet=0.7136;FS=0;MLEAC=2;MLEAF=0.167;MQ=56.37;MQRankSum=-1.44;QD=9.15;ReadPosRankSum=1.42;SOR=0.701	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:1,211:402:99:.:.:18130,5695,6314:.	4	0	2	1
chr3	195782605	195782605	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	3148.91	370	chr3	195782605	.	A	*	3148.91	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.799;DP=2779;ExcessHet=0.4813;FS=0;MLEAC=2;MLEAF=0.2;MQ=53.76;MQRankSum=-2.044;QD=4.87;ReadPosRankSum=-2.394;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:6,249:263:99:.:.:9740,1379,8119:.	3	0	2	2
chr3	195782949	195782949	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	8965.88	277	chr3	195782949	.	A	*	8965.88	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-4.918;DP=3126;ExcessHet=0;FS=4.778;MLEAC=2;MLEAF=0.333;MQ=57.14;MQRankSum=-6.525;QD=12.56;ReadPosRankSum=0.211;SOR=0.795	GT:AD:DP:GQ:PL	./.:711,0:711:0:0,0,0	2	0	1	4
chr3	195783008	195783008	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	406.35	293	chr3	195783008	.	A	*	406.35	.	AC=1;AF=0.125;AN=8;BaseQRankSum=0.607;DP=2721;ExcessHet=0.3476;FS=2.441;MLEAC=1;MLEAF=0.125;MQ=55.09;MQRankSum=-6.747;QD=0.45;ReadPosRankSum=-2.05;SOR=0.753	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:402,122:617:99:0|1:195783008_A_*:2284,405,13994:195783008	3	0	1	3
chr3	195783009	195783009	C	0	exonic	MUC4	.	.	.	.	474	974	47	0	27	74	0.0235589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1428.6	293	chr3	195783009	.	C	*	1428.6	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.163;DP=2731;ExcessHet=1.1394;FS=1.778;MLEAC=1;MLEAF=0.1;MQ=54.54;MQRankSum=-6.807;QD=1.56;ReadPosRankSum=-1.994;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:405,122:620:99:0|1:195783008_A_*:2275,409,14153:195783008	4	0	1	2
chr3	195783018	195783020	AGC	0	exonic	MUC4	.	.	.	.	441	1022	49	0	10	59	0.0234114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2542.0	293	chr3	195783018	.	AGC	*	2542.0	.	AC=1;AF=0.071;AN=14;BaseQRankSum=5.32;DP=2301;ExcessHet=0.3476;FS=0.523;MLEAC=1;MLEAF=0.071;MQ=55.3;MQRankSum=0.999;QD=2.74;ReadPosRankSum=1.31;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:317,122:636:99:0|1:195783018_AGC_*:5543,2542,15895:195783018	6	0	1	0
chr3	195783019	195783020	GC	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.8560_8561del:p.A2854Ffs*55,MUC4:NM_001322468:exon8:c.7888_7889del:p.Q2630Gfs*32	.	441	1022	49	0	10	59	0.0234114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.0005	0	0	0.0102	0.0045	0	0.0025	0.0001537	4	26028	rs1454491239	0.0052	0.0051	0.0051	0.0053	0.0058	0.0051	0.0051	0.0047	0.0046	0.0010	0.0054	0.0039	0.0042	0.0203	0.0058	0.0047	0.0060	0.0047	0.0045	0.0053	0.0041	0.0050	0.0067	0.0042	0.0041	0.0055	0.0051	0.0009	0	0.0067	0.0031	0.0018	0.0082	0	0.0058	0.0050	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2542.0	293	chr3	195783018	.	AGC	A	2542.0	.	AC=1;AF=0.071;AN=14;BaseQRankSum=5.32;DP=2301;ExcessHet=0.3476;FS=0.523;MLEAC=1;MLEAF=0.071;MQ=55.3;MQRankSum=0.999;QD=2.74;ReadPosRankSum=1.31;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:317,197:636:99:0|1:195783018_AGC_*:5543,0,12710:195783018	6	0	1	0
chr3	195783022	195783116	TCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGC	0	exonic	MUC4	.	.	.	.	440	1025	47	0	10	57	0.022413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2349.0	293	chr3	195783022	.	TCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGC	*	2349.0	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.85;DP=2590;ExcessHet=0.3476;FS=0.52;MLEAC=1;MLEAF=0.071;MQ=56.46;MQRankSum=-1.873;QD=1.95;ReadPosRankSum=0.91;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:551,166:914:99:0|1:195783018_AGC_*:4734,2349,24263:195783018	6	0	1	0
chr3	195783023	195783116	CGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGC	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.8464_8557del:p.A2822Tfs*151	.	440	1025	47	0	10	57	0.022413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0039	0.0005	0	0	0.0102	0.0050	0	0.0026	0.0001537	4	26028	.	0.0035	0.0047	0.0034	0.0035	0.0043	0.0034	0.0033	0.0034	0.0032	0.0007	0.0040	0.0026	0.0026	0.0139	0.0043	0.0031	0.0044	0.0027	0.0040	0.0049	0.0036	0.0045	0.0060	0.0037	0.0036	0.0049	0.0045	0.0009	0	0.0060	0.0028	0.0010	0.0086	0	0.0049	0.0047	0.0038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2349.0	293	chr3	195783022	.	TCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGC	T	2349.0	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.85;DP=2590;ExcessHet=0.3476;FS=0.52;MLEAC=1;MLEAF=0.071;MQ=56.46;MQRankSum=-1.873;QD=1.95;ReadPosRankSum=0.91;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:551,197:914:99:0|1:195783018_AGC_*:4734,0,23432:195783018	6	0	1	0
chr3	195783068	195783068	G	0	exonic	MUC4	.	.	.	.	442	900	103	29	48	209	0.082101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2969.16	238	chr3	195783068	.	G	*	2969.16	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.931;DP=2619;ExcessHet=0;FS=1.123;MLEAC=2;MLEAF=0.2;MQ=54.92;MQRankSum=0.902;QD=2.3;ReadPosRankSum=0.72;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:536,490:1036:99:0|1:195783020_C_*:10598,0,19824:195783020	3	0	2	2
chr3	195783070	195783070	A	0	exonic	MUC4	.	.	.	.	2	173	30	8	13	59	0.117347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2843.16	238	chr3	195783070	.	A	*	2843.16	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.931;DP=2266;ExcessHet=0;FS=1.796;MLEAC=2;MLEAF=0.2;MQ=55.79;MQRankSum=0.902;QD=2.96;ReadPosRankSum=1.1;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:364,327:695:99:.:.:10885,0,14455:.	3	0	2	2
chr3	195783084	195783084	A	0	exonic	MUC4	.	.	.	.	29	112	61	14	10	99	0.284345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	28034.9	223	chr3	195783084	.	A	*	28034.9	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.59;DP=2348;ExcessHet=0.7136;FS=0;MLEAC=1;MLEAF=0.083;MQ=57.77;MQRankSum=0.747;QD=17.04;ReadPosRankSum=1.09;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,412:716:99:0|1:195783084_A_*:27636,11951,10950:195783084	5	0	1	1
chr3	195783086	195783086	A	0	exonic	MUC4	.	.	.	.	490	879	93	33	27	186	0.0829421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2170.58	225	chr3	195783086	.	A	*	2170.58	.	AC=1;AF=0.167;AN=6;BaseQRankSum=0.96;DP=2271;ExcessHet=0;FS=3.133;MLEAC=1;MLEAF=0.167;MQ=55.62;MQRankSum=0.942;QD=8.65;ReadPosRankSum=1.01;SOR=0.326	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:704,0:704:0:.:.:0,0,0:.	2	0	1	4
chr3	195783093	195783093	A	0	exonic	MUC4	.	.	.	.	83	60	55	21	7	104	0.447005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	37419.1	210	chr3	195783093	.	A	*	37419.1	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.476;DP=2383;ExcessHet=0.095;FS=0;MLEAC=1;MLEAF=0.083;MQ=57.8;MQRankSum=-1.979;QD=21.68;ReadPosRankSum=1.7;SOR=0.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,412:727:99:0|1:195783084_A_*:27923,12252,11478:195783084	5	0	1	1
chr3	195783103	195783103	A	0	exonic	MUC4	.	.	.	.	690	605	177	26	24	253	0.159138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1020.4	209	chr3	195783103	.	A	*	1020.4	.	AC=1;AF=0.167;AN=6;BaseQRankSum=1.75;DP=2289;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.167;MQ=56.78;MQRankSum=1.51;QD=4.16;ReadPosRankSum=-0.745;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:716,0:716:0:.:.:0,0,0:.	2	0	1	4
chr3	195783104	195783104	-	TGC	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.8475_8476insGCA:p.V2825_F2826insA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0.0026	0	0	0.0004	0	0.0001	.	.	.	rs747911780	0.0002	0.0037	0.0001	0.0002	0.0007	0.0001	0.0001	0.0001	0.0001	0	0.0002	0.0003	0	8.776e-05	0.0007	0.0001	0.0003	0.0002	3.838e-05	0.0018	4.514e-05	3.135e-05	0.0001	1.422e-05	9.15e-06	2.526e-05	1.006e-05	3.07e-05	0	0.0001	0	0	0	0	1.689e-05	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	354.04	204	chr3	195783104	.	A	ATGC	354.04	.	AC=2;AF=0.25;AN=8;DP=2281;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.375;MQ=53.7;QD=33.92;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:716,0:716:0:.:.:0,0,0:.	3	1	0	3
chr3	195783259	195783259	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C8321T:p.T2774I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.000888857033759	.	.	0	0	0	0	0	0	0	0	.	.	.	rs761265033	2.354e-05	7.33e-05	2.098e-05	2.616e-05	0.0003	1.687e-05	1.47e-05	7.4e-05	4.788e-05	0.0002	2.927e-05	4.154e-05	2.848e-05	0	0.0003	1.871e-05	3.677e-05	1.319e-05	0.0001	0.0003	0.0001	8.868e-05	0.0004	7.218e-05	5.813e-05	0.0002	0.0002	0.0004	0	0	0	0	0	0	3.224e-05	0	0.0002	0.007	0.59928	D	0.028	0.54934	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.55	0.29866	T	-0.68	0.23156	N	0.095	0.08227	-1.0302	0.20390	T	0.026	0.11131	T	8	0.041856647	0.02879	T	8.89E-4	0.00822	T	0.036	0.09122	.	.	0.0138822411134	0.00435	2.827193375317178E-5	0.00002	.	.	0.561154603958	0.47431	T	.	.	.	-0.340345	0.05364	T	-0.726658	0.04480	T	0.0329061001002379	0.02455	T	0.806719	0.45571	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.34004	B	.;.	.;.	1.797980	0.22853	15.79	0.76545587819915528	0.11511	0.00642	0.02806	N	AEFBI	0.084096	0.17041	N	-1.69380860135521	0.00864	0.03737985	-1.80511505348026	0.00743	0.03311221	1.55826883379754E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.02	-1.52	0.08181	1.018000	0.29604	1.180000	0.24688	0.221000	0.18078	0.002000	0.15269	0.004000	0.18990	0.001000	0.02609	0.2868:0.0:0.7132:0.0	4.236	0.10076	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	5129.45	60	chr3	195783259	.	G	A	5129.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.346;DP=1225;ExcessHet=0;FS=0.624;MLEAC=1;MLEAF=0.071;MQ=57.02;MQRankSum=-2.937;QD=7.01;ReadPosRankSum=0.611;SOR=0.775	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:567,165:732:99:0|1:195783259_G_A:5140,0,23051:195783259	6	0	1	0
chr3	195783260	195783260	T	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A8320C:p.T2774P	.	426	1068	13	1	14	29	0.0069735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.000887783013412	.	.	0.0025	0.0005	0	0	0	0.0018	0	0.0053	0.0003946	61	154602	rs765190977	0.0003	0.0010	0.0002	0.0004	0.0023	0.0003	0.0003	0.0020	0.0019	0.0011	0.0005	0.0004	9.469e-05	6.78e-05	0.0009	0.0001	0.0002	0.0023	0.0019	0.0051	0.0021	0.0018	0.0126	0.0017	0.0016	0.0090	0.0077	0.0039	0	0.0013	0.0010	0.0004	0.0007	0	0.0011	0	0.0126	0.014	0.53172	D	0.302	0.20293	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.44	0.32722	T	-0.1	0.08495	N	0.067	0.07535	-1.0285	0.20940	T	0.026	0.11131	T	8	0.0073918104	0.00168	T	8.88E-4	0.00822	T	0.081	0.23632	.	.	0.0138822411134	0.00435	9.957835020418175E-5	0.00008	.	.	0.543016791344	0.44873	T	.	.	.	-0.359371	0.04166	T	-0.753988	0.03333	T	0.0110828574076099	0.00161	T	0.40156	0.10241	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.07365	B	.;.	.;.	-0.021407	0.04137	0.986	0.40130626491651172	0.02813	0.00206	0.01180	N	AEFBI	0.084477	0.17121	N	-1.54466372398719	0.01566	0.06842004	-1.72622564668846	0.01026	0.04602849	1.73675996703415E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.02	-1.7	0.07721	-0.841000	0.04467	-3.435000	0.02789	-1.084000	0.01555	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2236:0.0:0.7764	4.854	0.12910	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	5147.45	60	chr3	195783260	.	T	G	5147.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.333;DP=1216;ExcessHet=0;FS=0.621;MLEAC=1;MLEAF=0.071;MQ=57.01;MQRankSum=-2.87;QD=7.09;ReadPosRankSum=0.664;SOR=0.767	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:561,165:726:99:0|1:195783259_G_A:5158,0,22890:195783259	6	0	1	0
chr3	195783262	195783262	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A8318G:p.N2773S	.	435	1048	24	4	11	43	0.0150376	.	.	.	2825231	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.000934584827122	.	.	0.0062	0.0032	0.0036	0	0	0.0079	0.0038	0.0074	0.0003458	9	26028	rs200430309	0.0004	0.0018	0.0004	0.0005	0.0030	0.0004	0.0004	0.0025	0.0022	0.0030	0.0019	0.0005	0.0001	0.0002	0.0011	0.0002	0.0006	0.0020	0.0023	0.0063	0.0020	0.0026	0.0081	0.0020	0.0019	0.0065	0.0061	0.0076	0	0.0025	0	0.0003	0.0007	0.0068	0.0006	0.0008	0.0081	0.026	0.46910	D	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.5	0.32722	T	0.18	0.05310	N	0.02	0.00770	-0.9888	0.32903	T	0.026	0.10954	T	8	0.00425151	0.00085	T	9.35E-4	0.00911	T	0.009	0.00846	.	.	0.0138822411134	0.00435	6.802891024874262E-6	0.00000	.	.	0.536698877811	0.43980	T	.	.	.	-0.429523	0.01492	T	-0.854757	0.00902	T	0.00071340223075822	0.00006	T	0.639136	0.25234	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06387	B	.;.	.;.	-0.268405	0.02760	0.371	0.26748890116254831	0.01296	0.00041	0.00340	N	AEFBI	0.037893	0.05280	N	-1.53609845538159	0.01617	0.07070451	-1.620494646848	0.01535	0.06955711	1.70211933778159E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.02	-1.52	0.08181	-2.470000	0.01067	-6.862000	0.01287	-2.418000	0.00289	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4779:0.0:0.5221	4.376	0.10704	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.095606	0.152632	0.057377	0.178571	0.111111	0.052083	0.101307	0.056911	0.1	2457.11	187	chr3	195783262	.	T	C	2457.11	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.188;DP=1326;ExcessHet=0;FS=0.633;MLEAC=1;MLEAF=0.1;MQ=57.06;MQRankSum=-3.259;QD=3.46;ReadPosRankSum=0.305;SOR=0.751	GT:AD:DP:GQ:PL	0/1:553,158:711:99:2466,0,22665	4	0	1	2
chr3	195783283	195783283	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C8297T:p.A2766V	.	420	1095	5	1	1	8	0.00318616	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000735843050521	.	.	0.0015	0	0	0	0	0	0	0.0046	3.84e-05	1	26028	rs766130984	3.818e-05	0.0001	1.739e-05	5.954e-05	0.0006	2.965e-05	2.685e-05	0.0004	0.0004	3.359e-05	0	0	0	0	0.0002	4.759e-06	3.548e-05	0.0006	0.0002	0.0003	0.0001	0.0003	0.0047	0.0001	0.0001	0.0031	0.0026	2.518e-05	0	6.918e-05	0	0.0002	0	0.0036	4.73e-05	0	0.0047	0.014	0.53172	D	0.246	0.24477	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.57	0.29342	T	0.33	0.05503	N	0.052	0.02366	-1.0335	0.19332	T	0.037	0.15813	T	8	0.008687943	0.00197	T	7.36E-4	0.00491	T	0.019	0.03383	.	.	0.0138822411134	0.00435	1.2875917223193188E-5	0.00001	.	.	0.508125066757	0.39960	T	.	.	.	-0.314077	0.07393	T	-0.688926	0.06451	T	0.0497739532765785	0.05461	T	0.687031	0.29593	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24396	B	.;.	.;.	1.168030	0.15574	11.95	0.96341220887953671	0.29483	0.00124	0.00775	N	AEFBI	0.051599	0.09133	N	-1.04013683424469	0.07782	0.3626985	-1.14674703774489	0.06826	0.3299231	1.68298022610984E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.02	1.02	0.19102	2.166000	0.42032	-2.558000	0.03610	0.202000	0.17929	0.025000	0.20085	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	7.573	0.27087	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	3977.44	194	chr3	195783283	.	G	A	3977.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.755;DP=1186;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=56.5;MQRankSum=-3.631;QD=7;ReadPosRankSum=-0.791;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:441,127:568:99:0|1:195783259_G_A:3988,0,18117:195783259	6	0	1	0
chr3	195783346	195783346	A	0	exonic	MUC4	.	.	.	.	1082	70	139	167	64	537	0.771615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7098.27	66	chr3	195783346	.	A	*	7098.27	.	AC=4;AF=0.5;AN=8;BaseQRankSum=0.974;DP=524;ExcessHet=0;FS=1.29;MLEAC=5;MLEAF=0.625;MQ=51.46;MQRankSum=1.1;QD=20.28;ReadPosRankSum=0.963;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:52,0:52:0:.:.:0,0,0:.	2	2	0	3
chr3	195783357	195783357	C	0	exonic	MUC4	.	.	.	.	804	505	66	83	64	296	0.186795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	1842.25	56	chr3	195783357	.	C	*	1842.25	.	AC=4;AF=0.667;AN=6;BaseQRankSum=1.05;DP=767;ExcessHet=0;FS=0;MLEAC=6;MLEAF=1;MQ=47.69;MQRankSum=1.66;QD=10.12;ReadPosRankSum=-0.546;SOR=0.899	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:373,0:373:0:.:.:0,0,3853:.	1	2	0	4
chr3	195783367	195783367	A	0	exonic	MUC4	.	.	.	.	717	615	72	57	61	247	0.131356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1555.99	49	chr3	195783367	.	A	*	1555.99	.	AC=4;AF=0.5;AN=8;BaseQRankSum=1.15;DP=650;ExcessHet=0;FS=1.245;MLEAC=5;MLEAF=0.625;MQ=46.52;MQRankSum=1.6;QD=8.89;ReadPosRankSum=-2.405;SOR=0.522	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:330,0:330:0:.:.:0,0,5972:.	2	2	0	3
chr3	195783379	195783379	G	0	exonic	MUC4	.	.	.	.	3	172	18	18	15	69	0.135678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1047.22	38	chr3	195783379	.	G	*	1047.22	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.23;DP=614;ExcessHet=0;FS=2.659;MLEAC=4;MLEAF=0.333;MQ=44.23;MQRankSum=0.989;QD=6.39;ReadPosRankSum=-3.715;SOR=0.399	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:307,0:307:99:.:.:0,120,1800:.	4	2	0	1
chr3	195783381	195783383	GTC	0	exonic	MUC4	.	.	.	.	696	688	46	34	58	172	0.0765101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	880.89	34	chr3	195783381	.	GTC	*	880.89	.	AC=4;AF=0.5;AN=8;BaseQRankSum=2.33;DP=606;ExcessHet=0;FS=2.671;MLEAC=5;MLEAF=0.625;MQ=44.19;MQRankSum=0.774;QD=5.51;ReadPosRankSum=-3.835;SOR=0.39	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:303,0:303:0:.:.:0,0,7055:.	2	2	0	3
chr3	195783395	195783395	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	246.26	20	chr3	195783395	.	A	*	246.26	.	AC=4;AF=0.333;AN=12;BaseQRankSum=3.49;DP=337;ExcessHet=0;FS=4.245;MLEAC=4;MLEAF=0.333;MQ=41.9;MQRankSum=-1.128;QD=1.69;ReadPosRankSum=-2.593;SOR=0.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:50,0:50:99:.:.:0,120,1800:.	4	2	0	1
chr3	195783400	195783400	G	0	exonic	MUC4	.	.	.	.	581	868	25	28	20	101	0.044579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	127.26	44	chr3	195783400	.	G	*	127.26	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.61;DP=381;ExcessHet=0;FS=5.721;MLEAC=4;MLEAF=0.333;MQ=54.17;MQRankSum=-3.071;QD=0.75;ReadPosRankSum=-3.221;SOR=1.207	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:50,0:50:99:.:.:0,120,1800:.	4	2	0	1
chr3	195783422	195783422	A	0	exonic	MUC4	.	.	.	.	663	798	25	28	8	89	0.0483005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	31.31	40	chr3	195783422	.	A	*	31.31	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.015;DP=362;ExcessHet=0;FS=5.555;MLEAC=4;MLEAF=0.333;MQ=53.65;MQRankSum=5.07;QD=0.19;ReadPosRankSum=-4.06;SOR=0.264	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	4	2	0	1
chr3	195783456	195783599	GGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.7981_8124del:p.S2661_T2708del	.	589	869	23	27	14	91	0.0424242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0246	0.0067	0.0367	0.0512	0.0233	0.0302	0.0205	0.0203	.	.	.	.	0.0078	0.0085	0.0073	0.0084	0.0160	0.0077	0.0076	0.0125	0.0120	0.0045	0.0137	0.0177	0.0116	0.0067	0.0160	0.0069	0.0107	0.0117	0.0011	0.0014	0.0007	0.0015	0.0043	0.0005	0.0003	0.0006	0.0004	0	0	0	0	0.0043	0	0	0.0016	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	213.41	34	chr3	195783455	.	CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	C	213.41	.	AC=2;AF=0.143;AN=14;DP=259;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=28.79;QD=1.59;SOR=1.153	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	6	1	0	0
chr3	195783455	195783599	CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	0	exonic	MUC4	.	.	.	.	589	869	23	27	14	91	0.0424242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	213.41	34	chr3	195783455	.	CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	*	213.41	.	AC=4;AF=0.286;AN=14;DP=259;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.286;MQ=28.79;QD=1.59;SOR=1.153	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	5	2	0	0
chr3	195783896	195783896	-	AAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGA	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.7683_7684insTCTGTCACCGACACTTCCTCAGTATCCACAGGTCATGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACCGGTCACGCCACCCCTCTT:p.L2561_P2562insSVTDTSSVSTGHATPLHVTSPSSASTGHATPL,MUC4:NM_001322468:exon7:c.7635_7636insTCTGTCACCGACACTTCCTCAGTATCCACAGGTCATGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACCGGTCACGCCACCCCTCTT:p.S2547_A4615delinsVTDTSSVSTGHATPLHVTSPSSASTGHATPLSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	442	951	27	0	102	129	0.0139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	0.0029	0.0045	0	0	0.0049	0.0090	0.0027	0.0004916	76	154602	.	0.0040	0.0071	0.0039	0.0042	0.0239	0.0039	0.0039	0.0196	0.0180	0.0026	0.0060	0.0070	0	0.0071	0.0239	0.0037	0.0065	0.0041	0.0018	0.0063	0.0021	0.0015	0.0024	0.0016	0.0015	0.0021	0.0020	0.0010	0.0026	0.0024	0.0003	0	0.0015	0	0.0024	0.0012	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	5445.4	185	chr3	195783896	.	G	GAAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGA	5445.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.343;DP=2765;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=55.48;MQRankSum=-3.24;QD=32.96;ReadPosRankSum=1.61;SOR=0.732	GT:AD:DP:GQ:PL	0/0:945,0:945:99:0,120,1800	6	0	1	0
chr3	195784222	195784222	C	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G7358T:p.S2453I,MUC4:NM_001322468:exon7:c.G7310T:p.S2437I	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00123067916613	.	.	0.0008	0.0005	0	0	0.0005	0.0015	0	0.0003	0.0001488	23	154602	rs778868605	7.232e-05	0.0009	7.612e-05	6.842e-05	7.09e-05	5.984e-05	5.538e-05	5.165e-05	4.688e-05	7.09e-05	0	0.0001	0	0.0004	0	6.49e-05	0.0001	0	0.0006	0.0033	0.0007	0.0006	0.0008	0.0005	0.0005	0.0006	0.0005	0.0003	0	0.0007	0	0	0.0012	0	0.0008	0.0033	0.0003	0.167	0.27783	T	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.20909	N	.	.	.	1.47	0.31987	T	-0.5	0.18459	N	0.091	0.06990	-0.9912	0.32295	T	0.028	0.11882	T	8	0.024404973	0.00670	T	0.001231	0.01633	T	0.019	0.03383	0.296	0.26041	0.0611884634855	0.05136	1.8125435560606282E-4	0.00016	.	.	0.579718947411	0.50047	T	.	.	.	-0.345844	0.04993	T	-0.734557	0.04123	T	0.0165328343169427	0.00416	T	0.518148	0.16784	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266	0.50044	B	.;.	.;.	1.229455	0.16240	12.41	0.92940184326513287	0.22508	0.00376	0.01908	N	AEFDBCI	0.029546	0.02808	N	-1.30213955474078	0.03651	0.1634745	-1.38485414412822	0.03412	0.1591326	1.4555076539631E-5	0.02871	0.713056	0.82018	0	0.546412	0.12157	0	0.608524	0.38960	0	0.613276	0.41899	0	.	.	1.04	-1.45	0.08365	-0.904000	0.04188	-7.951000	0.01055	-1.299000	0.01246	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3013:0.3987:0.3:0.0	2.814	0.05117	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	602.11	502	chr3	195784222	.	C	A	602.11	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.393;DP=3613;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=59.2;MQRankSum=-8.938;QD=0.59;ReadPosRankSum=-3.803;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:931,83:1014:99:0|1:195784220_T_G:611,0,38674:195784220	4	0	1	2
chr3	195784271	195784271	T	0	exonic	MUC4	.	.	.	.	445	567	491	0	19	510	0.302154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	14935.4	582	chr3	195784271	.	T	*	14935.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.066;DP=4674;ExcessHet=2.5225;FS=0.568;MLEAC=1;MLEAF=0.071;MQ=59.35;MQRankSum=-6.32;QD=5.66;ReadPosRankSum=-1.338;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:675,0:932:99:0|1:195784220_T_G:4950,6966,25270:195784220	6	0	1	0
chr3	195784299	195784299	T	0	exonic	MUC4	.	.	.	.	418	1069	19	1	15	36	0.00972673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	101.63	582	chr3	195784299	.	T	*	101.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.343;DP=4608;ExcessHet=0.3476;FS=2.408;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.19;ReadPosRankSum=1.65;SOR=0.946	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:898,0:898:99:.:.:0,120,1800:.	6	0	1	0
chr3	195784402	195784402	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C7178T:p.A2393V,MUC4:NM_001322468:exon7:c.C7130T:p.A2377V	.	418	1067	23	0	14	37	0.010663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	.	.	0.0071	0.0234	0.0092	0	0.0116	0.0076	0.0093	0.0017	0.0006856	106	154602	rs199533374	5.616e-05	0.0007	7.112e-05	4.079e-05	0.0018	4.486e-05	4.123e-05	0.0014	0.0012	0.0018	3.248e-05	0	0	2.57e-05	0.0007	2.033e-05	2.15e-05	7.069e-05	0.0006	0.0058	0.0006	0.0005	0.0018	0.0005	0.0004	0.0014	0.0012	0.0018	0	0.0002	0.0007	0	0.0004	0	0.0002	0.0012	0.0003	0.171	0.22746	T	0.024	0.56640	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.53	0.30401	T	0.05	0.06369	N	0.035	0.01498	-1.0144	0.25529	T	0.035	0.15030	T	7	0.0052488744	0.00115	T	.	.	.	0.006	0.00375	.	.	0.0138822411134	0.00435	9.342545200597564E-4	0.00086	.	.	0.499631017447	0.38777	T	.	.	.	-0.347227	0.04904	T	-0.736544	0.04037	T	0.00477445630382751	0.00051	T	0.627137	0.24302	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17275	B	.;.	.;.	-0.081976	0.03751	0.779	0.97438579296314443	0.33966	0.00078	0.00535	N	AEFBI	0.043426	0.06864	N	-1.87022966466674	0.00395	0.01698035	-1.97403068363535	0.00347	0.01533539	5.70860444770443E-5	0.04171	0.617157	0.39670	1	0.446627	0.06534	0	0.786243	0.99158	0	0.613276	0.41899	0	.	.	.	.	.	0.290000	0.18731	-1.695000	0.04899	-2.014000	0.00440	0.100000	0.22794	0.000000	0.08366	0.015000	0.10482	0.2688:0.0:0.7312:0.0	5.400	0.15591	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.193980	0.262887	0.140351	0.184874	0.300000	0.157407	0.221519	0.209016	0.1	379.11	736	chr3	195784402	.	G	A	379.11	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.044;DP=5981;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=58.72;MQRankSum=-1.335;QD=0.52;ReadPosRankSum=-2.805;SOR=0.682	GT:AD:DP:GQ:PL	0/0:1219,0:1219:99:0,120,1800	4	0	1	2
chr3	195784560	195784655	AGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.6925_7020del:p.D2309_T2340del,MUC4:NM_001322468:exon7:c.6877_6972del:p.L2297_A4615delinsPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	515	990	6	1	10	18	0.00402414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0075	0.0062	0.0072	0	0.0029	0.0141	0.0133	0.0026	0.0013063	34	26028	.	0.0015	0.0016	0.0013	0.0017	0.0073	0.0014	0.0014	0.0049	0.0042	0.0015	0.0011	0.0017	0.0003	0.0028	0.0073	0.0015	0.0023	0.0006	0.0054	0.0063	0.0059	0.0049	0.0068	0.0050	0.0049	0.0062	0.0060	0.0034	0.0048	0.0063	0.0058	0	0.0041	0	0.0068	0.0048	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2895.4	239	chr3	195784559	.	TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTC	T	2895.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.63;DP=2419;ExcessHet=0;FS=5.073;MLEAC=1;MLEAF=0.071;MQ=54.01;MQRankSum=1.6;QD=9.46;ReadPosRankSum=-3.748;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:360,0:360:99:.:.:0,120,1800:.	6	0	1	0
chr3	195784574	195784575	GC	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	29567.6	239	chr3	195784574	.	GC	*	29567.6	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.73;DP=2609;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=55.86;MQRankSum=-7.888;QD=23.75;ReadPosRankSum=-2.793;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:304,0:304:99:.:.:0,120,1800:.	6	0	1	0
chr3	195784576	195784719	GTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGA	0	exonic	MUC4	.	.	.	.	534	906	66	8	8	90	0.0432946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	29370.5	160	chr3	195784576	.	GTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGA	*	29370.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=8.87;DP=3235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57;MQRankSum=1.74;QD=19.16;ReadPosRankSum=-2.837;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:248,0:248:99:.:.:0,120,1800:.	6	0	1	0
chr3	195784652	195784652	C	0	exonic	MUC4	.	.	.	.	842	358	133	132	57	454	0.356694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	27789.8	70	chr3	195784652	.	C	*	27789.8	.	AC=3;AF=0.25;AN=12;DP=3157;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=50.1;QD=13.4;SOR=0.702	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:243:99:1|1:195784652_C_G:10745,10745,10745:195784652	4	1	1	1
chr3	195784654	195784654	T	0	exonic	MUC4	.	.	.	.	811	382	134	136	59	465	0.347009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	22046.3	70	chr3	195784654	.	T	*	22046.3	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.85;DP=3156;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=50.07;MQRankSum=-2.194;QD=10.66;ReadPosRankSum=-0.04;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:246:99:1|1:195784652_C_G:10819,10819,10819:195784652	4	1	1	1
chr3	195784655	195784655	C	0	exonic	MUC4	.	.	.	.	812	379	133	136	62	467	0.348237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	28144.8	70	chr3	195784655	.	C	*	28144.8	.	AC=3;AF=0.25;AN=12;DP=3154;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=50;QD=13.51;SOR=0.702	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:246:99:1|1:195784652_C_G:10819,10819,10819:195784652	4	1	1	1
chr3	195784719	195784719	A	0	exonic	MUC4	.	.	.	.	956	119	187	211	49	658	0.719008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	37867.8	421	chr3	195784719	.	A	*	37867.8	.	AC=2;AF=0.25;AN=8;BaseQRankSum=1.81;DP=4029;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.375;MQ=56.62;MQRankSum=2.34;QD=15.17;ReadPosRankSum=1.78;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:415:99:1|1:195784652_C_G:15076,15076,15076:195784652	2	0	2	3
chr3	195785088	195785088	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	239.4	799	chr3	195785088	.	G	*	239.4	.	AC=2;AF=0.2;AN=10;BaseQRankSum=1.32;DP=4640;ExcessHet=0;FS=0.573;MLEAC=2;MLEAF=0.2;MQ=57.48;MQRankSum=0.325;QD=0.5;ReadPosRankSum=-0.181;SOR=0.608	GT:AD:DP:GQ:PL	./.:656,0:656:0:0,0,10361	3	0	2	2
chr3	195785122	195785122	A	0	exonic	MUC4	.	.	.	.	662	820	8	1	31	41	0.00606061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	7458.91	968	chr3	195785122	.	A	*	7458.91	.	AC=1;AF=0.167;AN=6;BaseQRankSum=7.57;DP=4952;ExcessHet=1.7609;FS=0.607;MLEAC=1;MLEAF=0.167;MQ=56.83;MQRankSum=-9.095;QD=3.02;ReadPosRankSum=-1.255;SOR=0.816	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:716,0:716:0:.:.:0,0,0:.	2	0	1	4
chr3	195785133	195785133	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	81945.5	947	chr3	195785133	.	T	*	81945.5	.	AC=2;AF=0.25;AN=8;DP=4831;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.375;MQ=56.74;QD=33.38;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:750,0:750:0:.:.:0,0,0:.	2	0	2	3
chr3	195785314	195785314	-	C	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6265_6266insG:p.I2089Sfs*27,MUC4:NM_001322468:exon6:c.6265_6266insG:p.S2089Cfs*110	.	482	1018	3	1	18	23	0.00244978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0004	0	0	0	8.29e-05	0	0.0001	.	.	.	rs764936489	0.0004	0.0014	0.0003	0.0005	0.0021	0.0004	0.0004	0.0016	0.0015	0.0021	0.0005	0.0004	0.0002	0.0011	0.0005	0.0003	0.0007	0.0003	0.0006	0.0014	0.0006	0.0007	0.0015	0.0005	0.0005	0.0011	0.0010	0.0015	0	0.0002	0	0	0.0002	0	0.0005	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	456.4	520	chr3	195785314	.	A	AC	456.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.163;DP=4242;ExcessHet=0;FS=2.064;MLEAC=1;MLEAF=0.071;MQ=57.45;MQRankSum=-0.779;QD=0.88;ReadPosRankSum=0.135;SOR=1.079	GT:AD:DP:GQ:PL	0/0:831,0:831:99:0,120,1800	6	0	1	0
chr3	195785315	195785315	-	GAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.I2089Vfs*931,MUC4:NM_001322468:exon6:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.S2089Vfs*236	.	542	16	26	927	11	1891	0.983264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.337e-05	0	0	0	0.0005	7.837e-05	0	0	1.29e-05	2	154602	rs751858617	0.0001	0.0010	0.0001	0.0002	0.0009	0.0001	0.0001	0.0006	0.0006	0.0009	8.604e-05	0	2.823e-05	0.0005	0.0002	9.85e-05	0.0002	7.712e-05	0.0004	0.0010	0.0004	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	7.172e-05	0	0	0.0001	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	141638.0	520	chr3	195785315	.	T	TGAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	141638.0	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.84;DP=4451;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.42;MQRankSum=-0.424;QD=33.51;ReadPosRankSum=-0.868;SOR=0.246	GT:AD:DP:GQ:PL	0/0:0,0:851:99:28593,28304,30712	6	0	1	0
chr3	195785644	195785644	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C5936A:p.T1979K,MUC4:NM_001322468:exon6:c.C5936A:p.T1979K	.	408	1094	20	0	0	20	0.00905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	.	.	0.0091	0.0008	0.0049	0	0.0021	0.0074	0	0.0182	0.0018823	291	154602	rs779935183	0.0013	0.0040	0.0012	0.0015	0.0052	0.0013	0.0012	0.0048	0.0046	0.0004	0.0010	0.0066	0	0.0009	0.0030	0.0010	0.0019	0.0052	0.0008	0.0023	0.0008	0.0009	0.0057	0.0007	0.0007	0.0040	0.0035	0.0002	0	0.0014	0.0062	0	0.0006	0	0.0006	0.0014	0.0057	0.018	0.58626	D	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	1	0.23544	N	.	.	.	1.13	0.39223	T	-0.67	0.19297	N	0.058	0.06454	-1.0684	0.09768	T	0.044	0.18948	T	7	0.0054897964	0.00121	T	.	.	.	0.034	0.08419	.	.	0.0297737177859	0.01360	5.07063259973472E-4	0.00046	.	.	0.537125587463	0.44040	T	.	.	.	-0.288849	0.09752	T	-0.652688	0.08767	T	0.006023847504792	0.00066	T	0.814619	0.46840	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.420	0.60693	A	.;.	.;.	2.172754	0.27693	17.55	0.82402364439529996	0.14173	0.14268	0.18312	N	AEFDBCI	0.115834	0.22758	N	-0.747718446310766	0.14695	0.7342156	-0.910381681897858	0.11849	0.6061497	8.41618344391763E-5	0.04703	0.615465	0.37627	0	0.550933	0.16991	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	0.526000	0.22680	0.049000	0.13974	0.177000	0.17786	0.004000	0.16614	0.000000	0.08366	0.028000	0.12845	2.0E-4:0.0:0.9998:0.0	6.707	0.22443	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008762	0.005102	0.002882	0.012500	0.000000	0.009091	0.018750	0.011719	0.07143	3633.44	299	chr3	195785644	.	G	T	3633.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.424;DP=3208;ExcessHet=0;FS=0.615;MLEAC=1;MLEAF=0.071;MQ=59.09;MQRankSum=2.97;QD=3.99;ReadPosRankSum=-0.821;SOR=0.648	GT:AD:DP:GQ:PL	0/1:692,219:911:99:3644,0,19113	6	0	1	0
chr3	195786274	195786274	A	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.T5306C:p.V1769A,MUC4:NM_001322468:exon6:c.T5306C:p.V1769A	.	409	1089	24	0	0	24	0.0108992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	.	.	0.0064	0	0.0055	0	0	0.0051	0	0.0129	0.0006916	18	26028	rs879139073	0.0018	0.0021	0.0014	0.0021	0.0124	0.0017	0.0017	0.0118	0.0115	0.0004	0.0009	0.0172	2.922e-05	2.098e-05	0.0065	0.0008	0.0027	0.0124	0.0021	0.0046	0.0020	0.0021	0.0106	0.0019	0.0018	0.0079	0.0070	0.0019	0.0015	0.0013	0.0174	0.0013	0.0001	0.0132	0.0014	0.0018	0.0106	0.195	0.20759	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.28312	N	.	.	.	1.33	0.35031	T	-0.03	0.07444	N	0.022	0.00372	-1.0107	0.26698	T	0.048	0.20474	T	7	0.005569011	0.00123	T	.	.	.	0.008	0.00669	.	.	0.0138822411134	0.00435	3.782903167070768E-5	0.00003	.	.	0.530063509941	0.43043	T	.	.	.	-0.311356	0.07629	T	-0.685018	0.06682	T	0.127299104398749	0.15130	T	0.518348	0.16810	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24157	B	.;.	.;.	-0.181578	0.03186	0.524	0.2965543671164817	0.01583	0.01113	0.04069	N	AEFDBCI	0.043870	0.06990	N	-1.17845442257488	0.05326	0.2425453	-1.32986469411063	0.04049	0.1901829	1.20127648571057E-5	0.02871	0.554377	0.28877	0	0.446627	0.06534	0	0.602189	0.34648	0	0.567339	0.31927	0	.	.	.	.	.	-0.453000	0.06853	-7.541000	0.01135	-1.124000	0.01467	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.9993:0.0:7.0E-4:0.0	4.518	0.11349	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.017119	0.011494	0.010937	0.017241	0.150000	0.009615	0.016892	0.016807	0.07143	6562.44	200	chr3	195786274	.	A	G	6562.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.89;DP=2666;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.54;MQRankSum=-0.596;QD=11.93;ReadPosRankSum=0.778;SOR=0.731	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:347,203:550:99:0|1:195786231_A_G:6573,0,12569:195786231	6	0	1	0
chr3	195786791	195786791	C	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G4789C:p.D1597H,MUC4:NM_001322468:exon5:c.G4789C:p.D1597H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.000564905621775	.	.	4.416e-05	0	0	0.0017	0	0	0	0	3.84e-05	1	26028	rs1419901911	0.0001	0.0006	0.0002	0.0001	0.0021	0.0001	0.0001	0.0016	0.0014	0.0021	0.0003	0.0001	0.0005	0.0007	0	6.491e-05	0.0003	6.515e-05	0.0012	0.0040	0.0015	0.0009	0.0027	0.0010	0.0009	0.0015	0.0013	0.0021	0.0089	0.0005	0.0020	0.0027	0.0016	0	0.0007	0.0025	0.0005	0.195	0.24758	T	0.031	0.54159	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.13	0.38556	T	-0.2	0.10136	N	0.059	0.04307	-1.0377	0.18016	T	0.042	0.17910	T	8	0.0061503053	0.00138	T	5.65E-4	0.00221	T	0.006	0.00375	.	.	0.0138822411134	0.00435	0.001845070739462962	0.00170	.	.	0.507013142109	0.39804	T	.	.	.	-0.366982	0.03749	T	-0.76492	0.02939	T	0.00502170143905353	0.00054	T	0.690631	0.30012	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26825	B	.;.	.;.	0.594441	0.09631	6.402	0.27291901691078813	0.01348	0.00056	0.00418	N	AEFBI	0.029388	0.02763	N	-1.86949559510118	0.00396	0.01704315	-1.95569412163627	0.00378	0.01672752	0.00100759864977713	0.08115	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.312	-0.624	0.10972	-1.360000	0.02706	-4.297000	0.02231	0.055000	0.17525	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.0:0.2898:0.4246:0.2857	2.813	0.05112	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	59.26	192	chr3	195786791	.	C	G	59.26	.	AC=1;AF=0.125;AN=8;BaseQRankSum=1.08;DP=2068;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.125;MQ=57.39;MQRankSum=-4.398;QD=1.74;ReadPosRankSum=-0.841;SOR=1.141	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:552,0:552:0:.:.:0,0,12881:.	3	0	1	3
chr3	195787028	195787075	CGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGAGTGA	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.4505_4552del:p.V1502_H1517del,MUC4:NM_001322468:exon5:c.4505_4552del:p.L1503_A4615delinsPSSASTGHATPLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSASTGQATPLPVTGPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHTTSLHVTSPSSASTGHATSLPVTDTSSVSTGHATPLHVTSPSSASTGDTTPLPVTDTYSASTGQATPLPVTDTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	550	971	1	0	0	1	0.000514668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0039	0.0087	0.0055	0	0	0.0006	0	0.0070	0.0004528	70	154602	rs762849060	0.0004	0.0007	0.0003	0.0005	0.0039	0.0004	0.0004	0.0036	0.0034	0.0017	0.0003	4.106e-05	0.0001	0	0.0003	0.0001	0.0004	0.0039	0.0013	0.0023	0.0012	0.0013	0.0042	0.0011	0.0011	0.0036	0.0034	0.0042	0	0.0002	0	0.0004	0	0	0.0002	0.0006	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1637.01	42	chr3	195787027	.	GCGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGAGTGA	G	1637.01	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.283;DP=729;ExcessHet=0.3476;FS=25.829;MLEAC=2;MLEAF=0.143;MQ=42.14;MQRankSum=-1.571;QD=4.76;ReadPosRankSum=0.467;SOR=4.13	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1468:.	5	0	2	0
chr3	195787035	195787035	T	0	exonic	MUC4	.	.	.	.	472	853	162	34	1	231	0.118802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	852.84	35	chr3	195787035	.	T	*	852.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.257;DP=605;ExcessHet=0.3476;FS=36.842;MLEAC=1;MLEAF=0.083;MQ=39.53;MQRankSum=1.69;QD=3.19;ReadPosRankSum=0.076;SOR=4.996	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1468	5	0	1	1
chr3	195788132	195788132	T	0	exonic	MUC4	.	.	.	.	595	698	124	3	102	232	0.08519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1632.23	213	chr3	195788132	.	T	*	1632.23	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.52;DP=1516;ExcessHet=0.3476;FS=8.418;MLEAC=1;MLEAF=0.125;MQ=47.41;MQRankSum=-7.128;QD=2.2;ReadPosRankSum=5.73;SOR=1.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:26,0:69:99:0|1:195788077_G_A:1640,1718,2810:195788077	3	0	1	3
chr3	195788137	195788137	C	0	exonic	MUC4	.	.	.	.	502	872	56	8	84	156	0.0396476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2795.32	221	chr3	195788137	.	C	*	2795.32	.	AC=1;AF=0.1;AN=10;BaseQRankSum=2.69;DP=1123;ExcessHet=0.0921;FS=1.747;MLEAC=1;MLEAF=0.1;MQ=53.23;MQRankSum=8.52;QD=4.27;ReadPosRankSum=-7.557;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:43,0:88:99:1|0:195788077_G_A:1328,1456,3154:195788077	4	0	1	2
chr3	195790225	195790225	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A1355G:p.H452R,MUC4:NM_001322468:exon3:c.A1355G:p.H452R	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00245299545479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.285	0.21478	T	.	.	.	.	.	.	0.000046	0.00387	N	10.141600	1	0.08975	N	.	.	.	0.8	0.48769	T	-0.8	0.22078	N	0.087	0.14338	-1.0852	0.06371	T	0.091	0.34765	T	10	0.0731267	0.11007	T	0.002453	0.04840	T	0.044	0.11924	.	.	0.0138822411134	0.00435	0.004956897626102258	0.00467	.	.	0.219940721989	0.01306	T	.	.	.	-0.216161	0.18519	T	-0.548277	0.17491	T	0.12191642064547	0.14615	T	0.534647	0.17878	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.48313	B	.;.	.;.	0.711063	0.10799	7.483	0.37145922095818024	0.02430	0.02149	0.06322	N	AEFBI	0.064570	0.12545	N	-1.20759982118044	0.04888	0.2215762	-1.32655127425984	0.04090	0.1921992	1.45846295611923E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	1.77	-1.3	0.08777	0.061000	0.14242	-1.656000	0.04975	0.295000	0.18837	0.001000	0.13787	0.000000	0.08366	0.032000	0.13371	0.0:0.0:0.5543:0.4457	5.999	0.18738	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	725.46	80	chr3	195790225	.	T	C	725.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.35;DP=662;ExcessHet=0;FS=3.751;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=1.27;SOR=1.259	GT:AD:DP:GQ:PL	0/0:142,0:142:99:0,120,1800	6	0	1	0
chr3	195867926	195867926	G	A	exonic	TNK2	.	nonsynonymous SNV	TNK2:NM_001308046:exon12:c.C2423T:p.P808L,TNK2:NM_001382271:exon12:c.C2423T:p.P808L,TNK2:NM_005781:exon12:c.C2327T:p.P776L,TNK2:NM_001010938:exon13:c.C2444T:p.P815L,TNK2:NM_001382272:exon13:c.C2444T:p.P815L,TNK2:NM_001382273:exon13:c.C2372T:p.P791L,TNK2:NM_001382274:exon13:c.C2372T:p.P791L,TNK2:NM_001382275:exon13:c.C2468T:p.P823L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.583	0.821604457295	.	.	3.568e-05	0	0.0003	0	0	2.907e-05	0	0	1.29e-05	2	154602	rs771225452	1.952e-05	1.984e-05	1.715e-05	2.194e-05	3.64e-05	1.337e-05	1.146e-05	1.498e-05	1.258e-05	0	3.64e-05	0	2.6e-05	0	0	2.214e-05	1.744e-05	0	6.578e-06	6.567e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.645	0.77386	M	-0.7	0.72785	T	-6.77	0.92782	D	0.567	0.60918	-0.0366	0.81492	T	0.469	0.79519	T	10	0.82811755	0.81983	D	0.821604	0.98613	D	0.583	0.83249	0.417	0.45709	0.950338613545	0.94981	0.2693120236306545	0.26844	0.0273631188102	0.02796	0.880067884922	0.93970	D	0.247012	0.76581	T	0.0949384	0.63741	D	-0.101404	0.63290	T	0.934166760356349	0.60144	D	0.964104	0.86689	D	0.51170737	0.67779	0.48301604	0.70068	0.51170737	0.67780	0.48301604	0.70068	-5.473	0.41615	T	.	.	0.311	0.53838	B	.;.;.;.	.;.;.;.	4.711343	0.75686	26.4	0.99915165963269015	0.98379	0.99723	0.98972	D	AEFDBI	0.924518	0.90266	D	0.730272964270651	0.81618	7.564376	0.708937327279294	0.83058	7.923015	0.999999999845317	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.86	4.86	0.62624	7.047000	0.76316	11.728000	0.94942	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:1.0:0.0	16.645	0.85030	884	0.28482	Mig-6 domain;.;Mig-6 domain;Mig-6 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	922.27	30	chr3	195867926	.	G	A	922.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.27;DP=239;ExcessHet=0;FS=3.688;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.12;ReadPosRankSum=1.95;SOR=1.236	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1077	5	0	1	1
chr3	195868011	195868011	G	A	exonic	TNK2	.	nonsynonymous SNV	TNK2:NM_001308046:exon12:c.C2338T:p.R780W,TNK2:NM_001382271:exon12:c.C2338T:p.R780W,TNK2:NM_005781:exon12:c.C2242T:p.R748W,TNK2:NM_001010938:exon13:c.C2359T:p.R787W,TNK2:NM_001382272:exon13:c.C2359T:p.R787W,TNK2:NM_001382273:exon13:c.C2287T:p.R763W,TNK2:NM_001382274:exon13:c.C2287T:p.R763W,TNK2:NM_001382275:exon13:c.C2383T:p.R795W	.	401	1120	1	0	0	1	0.000446229	.	.	.	2020807	TNK2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.365	0.66346687593	0.0002	0.000399361	0.0008	0	0	0.0005	0	0.0013	0	0.0004	0.0003428	53	154602	rs202015088	0.0004	0.0004	0.0004	0.0004	0.0018	0.0004	0.0004	0.0014	0.0013	6.085e-05	0.0003	0.0086	0.0018	2.478e-05	0.0009	0.0002	0.0009	0.0003	0.0005	0.0005	0.0005	0.0005	0.0006	0.0004	0.0004	0.0002	0.0002	0.0002	0	0.0005	0.0101	0.0006	0	0	0.0003	0.0009	0.0004	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000005	0.62929	D	0.061434	0.999734	0.48635	D	2.05	0.56469	M	-0.44	0.69777	T	-5.43	0.85323	D	0.565	0.58883	-0.2165	0.77245	T	0.416	0.76299	T	10	0.013443083	0.00285	T	0.663467	0.97178	D	0.365	0.68495	.	.	0.92906767235	0.92833	0.38608878466847596	0.38523	0.0325248027016	0.03398	0.836178481579	0.87511	D	0.268049	0.84189	T	-0.149685	0.28361	T	-0.14041	0.60082	T	0.284063249826431	0.24342	T	0.974103	0.90741	D	0.36661342	0.58334	0.29224676	0.55251	0.36661342	0.58334	0.29224676	0.55250	-10.297	0.75671	D	.	.	0.397	0.59415	A	.;.;.;.	.;.;.;.	4.000828	0.58953	24.0	0.99898999595798899	0.97124	0.97124	0.72830	D	AEFDBI	0.792571	0.72083	D	0.436182356871003	0.63423	4.575795	0.361901410264534	0.59228	4.098875	0.997822298415989	0.36074	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.01	4.1	0.47196	2.778000	0.47412	2.393000	0.32551	0.669000	0.69127	1.000000	0.71638	0.997000	0.33255	0.275000	0.23893	0.0:0.0:0.6045:0.3955	10.986	0.46737	884	0.28482	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001527	0.005263	0.002732	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	687.45	32	chr3	195868011	.	G	A	687.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.363;DP=236;ExcessHet=0;FS=2.43;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=-0.829;SOR=0.936	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1077	6	0	1	0
chr3	196886230	196886230	G	A	exonic	SENP5	.	nonsynonymous SNV	SENP5:NM_001308045:exon2:c.G1049A:p.G350D,SENP5:NM_152699:exon2:c.G1049A:p.G350D	.	429	1046	46	1	0	48	0.0224299	.	.	.	698002	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.176	.	0.0032	0.00339457	0.0053	0.0009	0.0016	0	0.0021	0.0048	0.0088	0.0165	0.0049999	773	154602	rs34326043	0.0052	0.0052	0.0049	0.0056	0.0177	0.0051	0.0051	0.0169	0.0166	0.0008	0.0017	0.0050	0	0.0032	0.0083	0.0048	0.0051	0.0177	0.0032	0.0032	0.0032	0.0032	0.0135	0.0029	0.0028	0.0108	0.0099	0.0008	0	0.0027	0.0063	0.0002	0.0013	0.0034	0.0043	0.0052	0.0135	0.001	0.78490	D	0.006	0.70582	D	0.986	0.61523	D	0.674	0.53247	P	0.041470	0.23946	N	0.433434	0.999835	0.81001	D	2.215	0.62545	M	1.33	0.35031	T	-0.81	0.25551	N	0.795	0.79118	-0.9580	0.39552	T	0.135	0.44914	T	10	0.005043119	0.00109	T	.	.	.	0.176	0.44373	.	.	0.525266285433	0.52174	0.28638960740791314	0.28551	0.641594467787	0.57746	0.427772462368	0.28904	T	0.009012	0.08229	T	-0.104752	0.35636	T	0.0897279	0.76226	D	0.0123640726748312	0.00202	T	0.868713	0.57175	D	0.35352296	0.57340	0.3804287	0.63075	0.35352296	0.57340	0.3804287	0.63075	-3.584	0.18641	T	.	.	0.223	0.45446	B	.;.	.;.	3.994106	0.58801	24.0	0.99785734057949749	0.87219	0.95368	0.64448	D	AEFDBCI	0.539764	0.55661	D	0.558107321876487	0.70576	5.522001	0.599793899831518	0.74926	6.220836	0.999999997546957	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	4.489000	0.60035	9.937000	0.82626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	15.055	0.71577	600	0.68026	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.020202	0.001359	0.002924	0.000000	0.008621	0.012195	0.007576	0.1429	2142.24	35	chr3	196886230	.	G	A	2142.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.534;DP=332;ExcessHet=0.3476;FS=1.272;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=0.736;SOR=0.813	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1093	5	0	2	0
chr4	271770	271853	TGTAGGGCTTCTCTCCAGTATGAATTCTCTTATGTTCATTCAGAACTGAGGACCTACTAAAGGCTTTGCCACATTCTTCACATG	-	exonic	ZNF732	.	nonframeshift deletion	ZNF732:NM_001137608:exon4:c.1004_1087del:p.T335_Y362del	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.767e-06	0	0	0	0	1.595e-05	0	0	.	.	.	.	4.11e-06	4.104e-06	2.725e-06	5.508e-06	0.0002	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.6e-06	1.659e-05	0	6.578e-06	6.57e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	361.23	43	chr4	271769	.	TTGTAGGGCTTCTCTCCAGTATGAATTCTCTTATGTTCATTCAGAACTGAGGACCTACTAAAGGCTTTGCCACATTCTTCACATG	T	361.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.988;DP=251;ExcessHet=0;FS=1.304;MLEAC=1;MLEAF=0.083;MQ=59.65;MQRankSum=-1.684;QD=7.53;ReadPosRankSum=0.468;SOR=0.425	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1091	5	0	1	1
chr4	295462	295462	G	A	exonic	ZNF732	.	nonsynonymous SNV	ZNF732:NM_001137608:exon3:c.C202T:p.H68Y	.	480	1013	25	4	0	33	0.0160272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	0.0015	0.00239617	0.0050	0.0007	0.0024	0.0002	0.0009	0.0031	0.0063	0.0196	0.0030983	479	154602	rs138314261	0.0027	0.0027	0.0023	0.0031	0.0147	0.0026	0.0026	0.0140	0.0137	0.0004	0.0021	0.0018	2.525e-05	0.0004	0.0109	0.0020	0.0032	0.0147	0.0019	0.0019	0.0018	0.0020	0.0137	0.0017	0.0016	0.0110	0.0101	0.0004	0	0.0020	0.0012	0.0002	0.0003	0.0068	0.0023	0.0024	0.0137	0.019	0.50132	D	0.259	0.23097	T	0.867	0.47667	P	0.337	0.42281	B	.	.	.	.	1	0.08975	N	1.595	0.40691	L	3.41	0.05574	T	-4.3	0.76496	D	0.283	0.32037	-0.9661	0.37994	T	0.015	0.05946	T	8	0.004892677	0.00104	T	.	.	.	0.037	0.09474	.	.	0.0297737177859	0.01360	0.008887082006758107	0.00851	0.00617594443748	0.00540	0.462571084499	0.33664	T	0.028374	0.20569	T	-0.583913	0.00182	T	-0.598554	0.12934	T	0.0382727865918116	0.03381	T	0.00488285	0.00016	T	0.18124768	0.39286	0.25665975	0.51369	0.18124768	0.39286	0.25665975	0.51368	-7.339	0.56473	T	.	.	0.083	0.11701	B	.;.	.;.	0.778245	0.11484	8.086	0.83627085447851301	0.14830	0.00662	0.02865	N	AEFBI	0.037922	0.05288	N	-0.641975677530967	0.17694	0.9126882	-0.849602537774039	0.13297	0.6890182	0.0801743627968419	0.15838	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	0.225	0.225	0.14598	0.919000	0.28312	.	.	0.373000	0.20310	0.005000	0.17040	0.000000	0.08366	0.031000	0.13245	.	.	.	958	0.09170	Krueppel-associated box;Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005550	0.000000	0.002717	0.005848	0.000000	0.000000	0.012270	0.011364	0.07143	1081.44	33	chr4	295462	.	G	A	1081.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.378;DP=278;ExcessHet=0;FS=3.772;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-1.448;SOR=1.08	GT:AD:DP:GQ:PL	0/1:49,47:96:99:1092,0,1242	6	0	1	0
chr4	443121	443121	T	C	exonic	ZNF721	.	nonsynonymous SNV	ZNF721:NM_133474:exon3:c.A1346G:p.E449G	.	389	1132	1	0	0	1	0.000441501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.000619620305017	.	.	8.29e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs782435513	2.052e-06	2.052e-06	0	4.126e-06	2.319e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	0	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.63226	D	0.004	0.76473	D	0.951	0.53992	P	0.969	0.72001	D	.	.	.	.	1	0.08975	N	1.77	0.45869	L	3.19	0.07353	T	-5.44	0.85397	D	0.196	0.36989	-1.0595	0.11880	T	0.049	0.20829	T	9	0.13889086	0.26412	T	6.2E-4	0.00303	T	0.029	0.06676	0.424	0.46857	0.0986583533028	0.09354	0.05238893984324652	0.05180	0.0511427036446	0.05630	0.28135445714	0.07682	T	0.045868	0.27254	T	-0.392759	0.02582	T	-0.599294	0.12870	T	0.458269098136876	0.31102	T	0.00619224	0.00023	T	0.16041459	0.35982	0.17190868	0.39408	0.16041459	0.35981	0.17190868	0.39407	-9.164	0.68747	D	.	.	0.173	0.37932	B	.;.	.;.	2.101450	0.26736	17.22	0.99393201508610673	0.62428	0.00000	0.00017	N	AEFDGBHCI	0.027756	0.02325	N	-0.747816948406947	0.14693	0.734064	-1.03019236734323	0.09125	0.4522494	0.0101166846357339	0.11969	0.651	0.46895	0	0.708844	0.79440	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	0.71	-1.42	0.08446	0.148000	0.16042	.	.	0.457000	0.21530	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.3272:0.0:0.0:0.6728	3.755	0.08105	912	0.21483	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1144.44	34	chr4	443121	.	T	C	1144.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.55;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=-2.579;SOR=0.697	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	6	0	1	0
chr4	522125	522125	T	C	exonic	PIGG	.	nonsynonymous SNV	PIGG:NM_001345989:exon9:c.T1751C:p.V584A	Mental retardation, autosomal recessive 53, Autosomal recessive	426	1088	8	0	0	8	0.003663	.	.	.	3198709	PIGG-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	.	0.000798722	.	.	.	.	.	.	.	.	0.0043415	113	26028	rs534227832	0.0050	0.0067	0.0052	0.0047	0.0067	0.0048	0.0047	0.0065	0.0064	0.0009	0.0012	0.0042	9.458e-05	0.0044	0.0018	0.0067	0.0046	0.0023	0.0039	0.0039	0.0044	0.0034	0.0067	0.0036	0.0035	0.0062	0.0060	0.0009	0	0.0014	0.0046	0	0.0039	0	0.0067	0.0028	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	1317.44	34	chr4	522125	.	T	C	1317.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.519;DP=315;ExcessHet=0;FS=1.6;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=0.64;SOR=0.914	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	6	0	1	0
chr4	625646	625646	A	G	exonic	PDE6B	.	nonsynonymous SNV	PDE6B:NM_000283:exon1:c.A20G:p.Q7R,PDE6B:NM_001145291:exon1:c.A20G:p.Q7R	Night blindness, congenital stationary, autosomal dominant 2, Autosomal dominant;Retinitis pigmentosa-40, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	3847595	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.0250003578226	.	.	3.307e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs769821115	4.106e-06	4.788e-06	2.724e-06	5.503e-06	5.797e-05	1.48e-06	9.7e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	1.656e-05	5.797e-05	6.563e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.103	0.30097	T	0.306	0.20037	T	0.074	0.24142	B	0.038	0.23361	B	0.000623	0.42799	D	0.225700	0.97964	0.25168	N	1.61	0.41143	L	-0.03	0.63077	T	-1.14	0.29323	N	0.093	0.08925	-0.9095	0.46916	T	0.183	0.53087	T	10	0.10207817	0.18688	T	0.025	0.47983	T	0.045	0.12272	0.267	0.21418	0.791855098359	0.78992	0.2206732256634905	0.21982	0.139551493921	0.15728	0.382511287928	0.22613	T	0.322053	0.69310	T	-0.314159	0.07387	T	-0.452376	0.27434	T	0.0624396017934975	0.07548	T	0.632737	0.24712	T	0.11033516	0.26081	0.13393152	0.32105	0.11033516	0.26081	0.13393152	0.32104	-3.86	0.21824	T	.	.	0.087	0.11220	B	.;.	.;.	1.812463	0.23033	15.86	0.94262455389023836	0.24543	0.80751	0.40309	D	AEFDBCI	0.210428	0.33631	N	-0.34444386892297	0.27477	1.507813	-0.271050883973279	0.29057	1.624927	0.999731450758134	0.42341	0.495158	0.18159	0	0.573888	0.26702	0	0.535252	0.11790	0	0.613276	0.41899	0	.	.	4.98	3.78	0.42629	3.701000	0.54525	.	.	0.756000	0.94297	0.936000	0.32490	0.971000	0.29754	0.865000	0.41091	0.9093:0.0:0.0907:0.0	8.979	0.35114	803	0.44167	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	555.46	33	chr4	625646	.	A	G	555.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.739;DP=245;ExcessHet=0;FS=4.882;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.51;ReadPosRankSum=0.961;SOR=1.329	GT:AD:DP:GQ:PL	0/1:47,27:74:99:566,0,1157	6	0	1	0
chr4	893408	893408	C	A	exonic	GAK	.	nonsynonymous SNV	GAK:NM_001318134:exon6:c.G722T:p.R241L,GAK:NM_005255:exon9:c.G959T:p.R320L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.0585614118153	.	.	1.818e-05	0	0	0	0	0	0	0.0002	1.29e-05	2	154602	rs371284475	8.359e-06	1.231e-05	4.15e-06	1.263e-05	9.607e-05	4.46e-06	3.52e-06	4.721e-05	3.475e-05	0	0	0	0	0	0	2.729e-06	1.688e-05	9.607e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.038	0.51421	D	0.988	0.62325	D	0.875	0.62107	P	0.000004	0.62929	D	0.091750	1	0.81001	D	2.25	0.63811	M	2.22	0.18248	T	-4.8	0.81514	D	0.805	0.80083	-0.9779	0.35481	T	0.118	0.41516	T	10	0.7747838	0.77370	D	0.058561	0.67362	D	0.294	0.61388	0.508	0.60386	0.411923116668	0.40804	0.7571863799070913	0.75666	0.172835756849	0.19464	0.711310744286	0.68784	T	0.426125	0.77601	T	-0.0681373	0.41623	T	-0.120316	0.61776	T	0.652406454086304	0.38565	D	0.971803	0.89778	D	0.8548011	0.87692	0.5324097	0.72981	0.8548011	0.87694	0.5324097	0.72982	-11.135	0.82435	D	.	.	0.517	0.65350	A	.;.	.;.	3.842708	0.55612	23.6	0.99787829294371466	0.87396	0.94040	0.59932	D	AEFBCI	0.746588	0.68891	D	0.510066009612272	0.67682	5.114493	0.408173848105198	0.62074	4.416796	0.999998704485077	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.16	5.16	0.70563	7.162000	0.77088	.	.	0.588000	0.31329	1.000000	0.71638	1.000000	0.68203	0.391000	0.26581	0.0:1.0:0.0:0.0	16.157	0.81486	779	0.47767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001011	0.000000	0.000000	0.000000	0.000000	0.000000	0.003086	0.003788	0.07143	549.44	34	chr4	893408	.	C	A	549.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.462;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=0.903;SOR=0.639	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1273	6	0	1	0
chr4	973287	973287	C	T	exonic	DGKQ	.	nonsynonymous SNV	DGKQ:NM_001347:exon1:c.G196A:p.V66M	.	396	1122	4	0	0	4	0.00177936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.831394296602	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1301134628	8.693e-06	1.026e-05	5.751e-06	1.168e-05	0.0002	4.64e-06	3.66e-06	1.031e-05	4.86e-06	0	0	0	0	0	0.0002	6.514e-06	1.774e-05	3.883e-05	6.584e-06	6.567e-06	1.287e-05	0	6.554e-05	0	0	.	.	0	0	6.554e-05	0	0	0	0	0	0	0	0.026	0.46910	D	0.05	0.48080	T	0.999	0.77913	D	0.999	0.92359	D	0.000232	0.47286	U	0.000000	0.999882	0.50402	D	1.975	0.53506	M	1.98	0.21865	T	0.02	0.06739	N	0.264	0.29889	-1.1056	0.03476	T	0.074	0.29802	T	10	0.5548644	0.64460	D	0.831394	0.98693	D	0.114	0.32008	0.337	0.32654	0.223146558224	0.21909	0.3225320178616927	0.32166	0.569347464813	0.53119	0.936134576797	0.99298	D	0.306644	0.67884	T	-0.138838	0.30074	T	-0.437208	0.29121	T	0.836469888687134	0.49041	D	0.955504	0.83071	D	0.12224069	0.28730	0.112119876	0.27051	0.12224069	0.28730	0.112119876	0.27050	-10.577	0.77288	D	.	.	0.847	0.79600	P	.	.	5.093555	0.85075	28.5	0.99817336319022198	0.90061	0.36211	0.25481	N	AEFDBCI	0.237078	0.35942	N	0.0144232460407465	0.42510	2.56277	-0.112336844489406	0.34892	2.012252	0.999999999796079	0.74766	0.652421	0.48094	0	0.748881	0.99253	0	0.606884	0.38211	0	0.71	0.69187	0	.	.	1.96	1.96	0.25203	3.153000	0.50383	.	.	0.498000	0.22619	0.996000	0.39380	1.000000	0.68203	0.942000	0.48361	0.0:1.0:0.0:0.0	9.575	0.38615	759	0.50631	Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	808.63	29	chr4	973287	.	C	T	808.63	.	AC=2;AF=0.143;AN=14;DP=203;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=27.88;SOR=1.46	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1069	6	1	0	0
chr4	991630	991630	C	T	exonic	SLC26A1	.	nonsynonymous SNV	SLC26A1:NM_022042:exon2:c.G74A:p.R25Q,SLC26A1:NM_134425:exon2:c.G74A:p.R25Q,SLC26A1:NM_213613:exon3:c.G74A:p.R25Q	.	234	1269	19	0	0	19	0.00743058	.	.	.	1646966	SLC26A1-related_disorder|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.262	0.143261176074	0.0009	0.000798722	0.0010	0.0003	0.0005	0	0	0.0012	0	0.0024	0.0008279	128	154602	rs35719765	0.0010	0.0010	0.0009	0.0012	0.0156	0.0010	0.0010	0.0129	0.0120	0.0005	0.0007	4.101e-05	0	5.308e-05	0.0156	0.0009	0.0018	0.0025	0.0009	0.0009	0.0008	0.0009	0.0017	0.0007	0.0007	0.0010	0.0010	0.0002	0	0.0012	0	0.0002	0	0.0136	0.0012	0.0033	0.0017	0.737	0.04864	T	0.608	0.07842	T	0.0	0.02946	B	0.0	0.01387	B	0.021946	0.01563	N	3.198590	0.999999	0.08975	N	-1.32	0.00691	N	-3.0	0.93054	D	0.1	0.05810	N	0.078	0.05929	-0.4471	0.70496	T	0.391	0.74524	T	10	0.0065609515	0.00149	T	0.143261	0.82560	D	0.262	0.57482	.	.	0.347659731818	0.34379	0.14615171333840088	0.14537	0.128866554687	0.14530	0.388208150864	0.23417	T	0.050409	0.28586	T	-0.471187	0.00836	T	-0.454842	0.27163	T	0.00322538279905694	0.00034	T	0.378562	0.09103	T	0.017236993	0.00257	0.022291442	0.00257	0.020795481	0.00651	0.023041084	0.00320	-4.073	0.24891	T	.	.	0.077	0.06250	B	.;.;.;.	.;.;.;.	-0.825641	0.01058	0.046	0.74783645981953928	0.10825	0.01482	0.04930	N	AEFBCI	0.024178	0.01456	N	-2.33826053942339	0.00037	0.001602423	-2.39964868108738	0.00039	0.001727806	0.999999999999847	0.74766	0.562547	0.31514	0	0.550933	0.16991	0	0.578056	0.29568	0	0.635551	0.53088	0	.	.	5.3	-10.6	0.00212	-2.664000	0.00921	.	.	-1.645000	0.00834	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1519:0.385:0.1872:0.2758	3.081	0.05885	804	0.43891	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.017137	0.000000	0.014946	0.032164	0.100000	0.008621	0.018293	0.000000	0.07143	1961.44	33	chr4	991630	.	C	T	1961.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.26;DP=324;ExcessHet=0;FS=2.199;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.75;ReadPosRankSum=0.214;SOR=0.523	GT:AD:DP:GQ:PL	0/1:62,71:133:99:1972,0,1403	6	0	1	0
chr4	1383837	1383837	A	G	exonic	UVSSA	.	nonsynonymous SNV	UVSSA:NM_001317934:exon13:c.A1933G:p.S645G,UVSSA:NM_001317935:exon13:c.A1933G:p.S645G,UVSSA:NM_020894:exon13:c.A1933G:p.S645G	UV-sensitive syndrome 3, Autosomal recessive	0	1503	18	1	0	20	0.00660939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0037136444809	0.0002	0.000599042	0.0005	0	0.0002	0.0003	0	0.0003	0	0.0026	0.0004528	70	154602	rs201318732	0.0003	0.0003	0.0002	0.0004	0.0026	0.0003	0.0003	0.0022	0.0021	2.987e-05	0.0002	0.0015	7.557e-05	1.894e-05	0.0026	0.0001	0.0006	0.0025	0.0003	0.0003	0.0002	0.0003	0.0015	0.0002	0.0002	0.0007	0.0005	0	0	0.0001	0.0014	0	0	0	0.0004	0.0009	0.0015	0.573	0.10020	T	0.286	0.23845	T	0.001	0.07471	B	0.004	0.10090	B	0.710106	0.10021	N	0.896444	1	0.08975	N	0.805	0.20218	L	1.56	0.42502	T	-0.5	0.24460	N	0.099	0.08088	-1.0154	0.25207	T	0.058	0.24204	T	10	0.005978614	0.00134	T	0.003714	0.08589	T	0.010	0.01040	.	.	0.0297737177859	0.01360	0.1538222070765325	0.15304	0.0152523105094	0.01452	0.272158384323	0.06424	T	0.036624	0.24175	T	-0.67779	0.00049	T	-0.751301	0.03435	T	0.00574786982365525	0.00063	T	0.374863	0.08927	T	0.022671392	0.00946	0.023782352	0.00391	0.022422122	0.00904	0.02780293	0.00961	-2.727	0.07532	T	0.09284901968223057	0.06045	0.055	0.00412	B	.;.;.;.;.	.;.;.;.;.	-1.197671	0.00533	0.012	0.39955257370670688	0.02790	0.02627	0.07216	N	AEFBI	0.037822	0.05260	N	-1.5382268697818	0.01604	0.07012771	-1.60868813775984	0.01603	0.07272763	5.41867196343739E-4	0.07273	0.660377	0.49826	0	0.694456	0.67091	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.75	-4.12	0.03650	-0.275000	0.08557	-1.970000	0.04414	-1.514000	0.01012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3667:0.2436:0.2718:0.1179	1.532	0.02384	836	0.38045	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004036	0.000000	0.000000	0.000000	0.000000	0.000000	0.006173	0.022727	0.07143	394.83	35	chr4	1383837	.	A	G	394.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.17;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=0.306;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1117:.	6	0	1	0
chr4	1703672	1703672	G	A	exonic	SLBP	.	nonsynonymous SNV	SLBP:NM_001306075:exon2:c.C88T:p.R30C,SLBP:NM_006527:exon3:c.C205T:p.R69C	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0402200577683	0.0024	0.00139776	0.0020	0.0004	0.0007	0	0.0008	0.0034	0.0011	0	0.0022057	341	154602	rs41286667	0.0028	0.0028	0.0028	0.0028	0.0034	0.0027	0.0027	0.0033	0.0033	0.0004	0.0013	0.0003	0	0.0015	0.0002	0.0034	0.0022	2.319e-05	0.0020	0.0020	0.0023	0.0017	0.0035	0.0018	0.0018	0.0031	0.0030	0.0006	0	0.0018	0.0003	0	0.0013	0	0.0035	0.0024	0	0.014	0.54683	D	0.185	0.29639	T	0.998	0.77913	D	0.795	0.58136	P	0.002390	0.36650	N	0.220091	0.993565	0.58761	D	2.075	0.57047	M	.	.	.	-1.39	0.34397	N	0.334	0.37509	-0.7475	0.58066	T	0.193	0.54637	T	9	0.0063792765	0.00144	T	0.04022	0.59252	D	0.094	0.27141	.	.	0.198222871337	0.19423	0.10945083235299634	0.10874	0.711545731921	0.61734	0.462738573551	0.33687	T	0.020788	0.16305	T	-0.398308	0.02375	T	-0.343552	0.39941	T	0.0251153485375622	0.01287	T	0.873013	0.60710	D	0.08645035	0.20096	0.052135106	0.08529	0.08645035	0.20095	0.052135106	0.08528	-4.903	0.41914	T	.	.	0.131	0.28174	B	.;.;.	.;.;.	4.382738	0.67577	25.1	0.99695786320332735	0.80248	0.89876	0.50631	D	AEFBCI	0.248426	0.36883	N	0.101449210495208	0.46529	2.891987	0.0614322095028347	0.42628	2.581684	0.999942527890766	0.47345	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.01	3.23	0.36150	2.398000	0.44140	4.249000	0.42748	-0.159000	0.11634	0.140000	0.23505	1.000000	0.68203	0.887000	0.42601	0.0:0.1394:0.5718:0.2888	9.587	0.38686	799	0.44747	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	839.44	33	chr4	1703672	.	G	A	839.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.421;DP=238;ExcessHet=0;FS=1.026;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-1.206;SOR=0.935	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1203	6	0	1	0
chr4	1717538	1717538	G	A	exonic	TMEM129	.	nonsynonymous SNV	TMEM129:NM_001127266:exon3:c.C818T:p.A273V	.	409	1106	7	0	0	7	0.00315457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0093497969941	.	.	.	.	.	.	.	.	.	.	.	.	.	rs967552791	6.479e-06	9.577e-06	4.256e-06	8.769e-06	0.0005	3.05e-06	2.21e-06	0.0001	7.667e-05	0	0	0	2.805e-05	0	0.0005	0	8.688e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.511	0.07473	T	0.525	0.10281	T	0.0	0.02946	B	0.001	0.04355	B	0.229154	0.15960	N	0.589252	1	0.08975	N	-0.715	0.01801	N	1.01	0.41058	T	0.28	0.04233	N	0.048	0.01999	-1.0245	0.22246	T	0.041	0.17657	T	10	0.037513316	0.02111	T	0.00935	0.24530	T	0.033	0.08068	0.346	0.34112	0.184867976434	0.18130	0.14288460426715333	0.14211	0.225302997667	0.25073	0.457398056984	0.32954	T	0.003758	0.03171	T	-0.304151	0.08274	T	-0.674668	0.07313	T	0.0879184678196907	0.10969	T	0.714229	0.32652	T	0.05272971	0.09877	0.052770026	0.08761	0.05272971	0.09876	0.052770026	0.08760	-5.018	0.37035	T	.	.	0.076	0.05935	B	.;.	.;.	1.545059	0.19810	14.45	0.84446856926633906	0.15297	0.33744	0.24902	N	AEFDBCI	0.103274	0.20695	N	-0.778385809651138	0.13874	0.6867491	-0.625286535109845	0.18844	1.008475	0.999998556574646	0.74766	0.634777	0.41761	0	0.577304	0.33150	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	4.69	3.85	0.43556	1.360000	0.33729	4.943000	0.46226	0.671000	0.69459	0.002000	0.15269	1.000000	0.68203	0.976000	0.56436	0.1673:0.0:0.8327:0.0	9.155	0.36146	799	0.44747	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	670.83	28	chr4	1717538	.	G	A	670.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.727;DP=234;ExcessHet=0;FS=1.05;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-0.293;SOR=0.54	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	6	0	1	0
chr4	1718207	1718207	G	-	exonic	TMEM129	.	frameshift deletion	TMEM129:NM_001127266:exon2:c.625delC:p.L209Sfs*20,TMEM129:NM_138385:exon2:c.625delC:p.L209Sfs*75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2592.59	36	chr4	1718206	.	AG	A	2592.59	.	AC=2;AF=0.143;AN=14;DP=246;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=35.53;SOR=1.758	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,104,1441	6	1	0	0
chr4	1737610	1737610	C	T	exonic	TACC3	.	nonsynonymous SNV	TACC3:NM_006342:exon10:c.C1849T:p.P617S	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.0119839897747	.	.	0.0002	0	0	0	0	0.0003	0	0	5.82e-05	9	154602	rs769227637	0.0006	0.0006	0.0006	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0001	0	0	0	0	0.0002	0.0008	0.0004	2.664e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	0.0001	0	0.0001	0	0	0	0	0.0004	0	0	0.106	0.29688	T	0.041	0.50514	D	0.998	0.73220	D	0.862	0.61339	P	0.155462	0.17829	N	0.396912	1	0.08975	N	0.975	0.24501	L	2.88	0.10291	T	-3.17	0.64363	D	0.132	0.12770	-1.0545	0.13172	T	0.039	0.16935	T	10	0.119917035	0.22702	T	0.011984	0.30135	T	0.038	0.09825	.	.	0.301789629655	0.29801	0.27866409838710066	0.27779	0.112956299353	0.12750	0.412357717752	0.26783	T	0.286452	0.65924	T	-0.604624	0.00137	T	-0.665905	0.07873	T	0.041165037770669	0.03901	T	0.267173	0.04416	T	0.032341078	0.03241	0.0486145	0.07258	0.032341078	0.03241	0.0486145	0.07257	-3.367	0.14615	T	.	.	0.081	0.08033	B	.	.	0.555373	0.09238	6.022	0.99107600902251847	0.52648	0.12002	0.16998	N	AEFBCI	0.045509	0.07451	N	-0.736505845893636	0.15002	0.7522635	-0.881457356104698	0.12534	0.6452659	0.999661877271272	0.41534	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.86	1.15	0.19876	-0.404000	0.07267	-1.010000	0.06616	-0.940000	0.02096	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.5475:0.1701:0.2823	4.605	0.11763	799	0.44747	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	79.4	35	chr4	1737610	.	C	T	79.4	.	AC=2;AF=0.143;AN=14;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=19.85;SOR=0.693	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1169	6	1	0	0
chr4	2462846	2462846	C	T	exonic	CFAP99	.	nonsynonymous SNV	CFAP99:NM_001193282:exon16:c.C1861T:p.R621W	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.406619540706	.	.	.	.	.	.	.	.	.	.	.	.	.	rs906422794	4.679e-05	8.551e-05	4.287e-05	5.084e-05	0.0003	3.67e-05	3.356e-05	3.225e-05	2.866e-05	0	0	0.0004	0	0	0.0003	4.281e-05	9.973e-05	1.645e-05	3.956e-05	3.943e-05	2.578e-05	5.399e-05	7.367e-05	1.72e-05	1.133e-05	2.851e-05	1.862e-05	2.418e-05	0	0	0	0	0	0	7.367e-05	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.21056	-0.5559	0.66561	T	0.261	0.63143	T	5	0.13567576	0.25816	T	0.40662	0.93510	D	0.039	0.10176	.	.	0.341696514166	0.33777	0.16662296199362495	0.16582	.	.	.	.	.	.	.	.	-0.178359	0.23981	T	-0.493977	0.22974	T	0.343895527709201	0.26778	T	0.676232	0.39899	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.46085	B	.;.;.	.;.;.	3.943765	0.57728	23.9	0.99683103285815022	0.79373	0.06971	0.12997	N	ALL	0.159917	0.28579	N	-0.154674663027972	0.35037	2.007419	-0.217276539513503	0.30916	1.744941	0.999999999512389	0.74766	0.623204	0.39778	0	0.606814	0.50340	0	0.378051	0.06126	2	0.765457	0.99879	0	.	.	2.77	2.77	0.31614	0.304000	0.18983	0.481000	0.18806	0.428000	0.20880	0.055000	0.21596	0.108000	0.22760	0.731000	0.35132	0.0:1.0:0.0:0.0	9.184	0.36320	774	0.48577	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	290.91	11	chr4	2462846	.	C	T	290.91	.	AC=2;AF=0.167;AN=12;DP=78;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=26.45;SOR=1.802	GT:AD:DP:GQ:PL	0/0:13,0:13:36:0,36,540	5	1	0	1
chr4	2939590	2939590	G	A	exonic	NOP14	.	nonsynonymous SNV	NOP14:NM_001291978:exon16:c.C2255T:p.P752L,NOP14:NM_001291979:exon16:c.C2255T:p.P752L,NOP14:NM_003703:exon16:c.C2255T:p.P752L	.	433	1048	40	1	0	42	0.0196445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	.	0.0038	0.00459265	0.0064	0.0006	0.0018	0.0001	0.0051	0.0066	0.0077	0.0165	0.0060672	938	154602	rs13106867	0.0055	0.0055	0.0051	0.0060	0.0184	0.0054	0.0054	0.0158	0.0155	0.0010	0.0028	0.0060	0.0002	0.0051	0.0184	0.0050	0.0068	0.0165	0.0048	0.0048	0.0043	0.0053	0.0192	0.0045	0.0044	0.0161	0.0149	0.0010	0.0549	0.0039	0.0063	0.0006	0.0057	0.0170	0.0057	0.0043	0.0192	0.317	0.13699	T	0.016	0.60972	D	0.909	0.50183	P	0.373	0.47904	B	0.000133	0.49741	D	0.144423	1	0.81001	D	3.005	0.85968	M	0.79	0.49068	T	-3.61	0.69593	D	0.391	0.43803	-0.6701	0.61824	T	0.173	0.51516	T	10	0.012910634	0.00276	T	.	.	.	0.295	0.61502	.	.	0.683028895158	0.68032	0.5370915239200252	0.53634	0.190579467298	0.21375	0.449606895447	0.31890	T	0.086746	0.37791	T	-0.279776	0.10692	T	-0.161029	0.58259	T	0.063309094178656	0.07679	T	0.846915	0.52723	T	0.16191176	0.36232	0.1469953	0.34804	0.16191176	0.36231	0.1469953	0.34804	-8.933	0.67264	D	.	.	0.105	0.26074	B	.;.;.;.	.;.;.;.	3.920123	0.57225	23.8	0.96736791081005902	0.30910	0.95832	0.66344	D	AEFDBCI	0.420789	0.48747	N	0.419843755712282	0.62514	4.468512	0.392240088941957	0.61087	4.303902	0.999999999713142	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	4.558000	0.60498	8.484000	0.77308	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.030000	0.13115	0.0:0.0:1.0:0.0	20.428	0.99077	641	0.64016	.;.;.;.	.	.	.	.	rs13106867	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014602	0.005051	0.008152	0.008772	0.000000	0.034483	0.027439	0.015152	0.07143	1454.53	36	chr4	2939590	.	G	A	1454.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.07;DP=347;ExcessHet=0;FS=2.04;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=-1.863;SOR=0.89	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	6	0	1	0
chr4	2941692	2941692	G	A	exonic	NOP14	.	nonsynonymous SNV	NOP14:NM_001291978:exon15:c.C2089T:p.R697C,NOP14:NM_001291979:exon15:c.C2089T:p.R697C,NOP14:NM_003703:exon15:c.C2089T:p.R697C	.	404	1092	26	0	0	26	0.0117647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	.	0.0032	0.00878594	0.0088	0.0005	0.0044	0.0019	0.0106	0.0077	0.0092	0.0248	0.007736	1196	154602	rs61740573	0.0062	0.0062	0.0057	0.0067	0.0298	0.0061	0.0060	0.0261	0.0247	0.0018	0.0044	0.0296	0.0008	0.0102	0.0298	0.0045	0.0080	0.0204	0.0055	0.0055	0.0048	0.0061	0.0236	0.0052	0.0050	0.0201	0.0188	0.0010	0	0.0046	0.0328	0.0015	0.0100	0.0170	0.0051	0.0118	0.0236	0.015	0.58626	D	0.003	0.79402	D	1.0	0.90584	D	0.91	0.66185	D	0.000073	0.52346	D	0.124363	0.52763	0.31517	N	3.055	0.86842	M	1.46	0.32238	T	-4.09	0.75375	D	0.475	0.51315	-0.5549	0.66599	T	0.138	0.45526	T	10	0.0066779554	0.00151	T	.	.	.	0.213	0.50496	.	.	0.527809512145	0.52428	0.4969263051077896	0.49613	0.4632225215	0.45833	0.259536594152	0.04836	T	0.070444	0.33961	T	-0.400888	0.02284	T	-0.331705	0.41280	T	0.0351601588212269	0.02836	T	0.926207	0.72857	D	0.25870398	0.48920	0.1932095	0.42877	0.25870398	0.48920	0.1932095	0.42876	-7.67	0.58799	D	.	.	0.087	0.23148	B	.;.;.;.	.;.;.;.	4.515894	0.70766	25.6	0.99881421728566111	0.95733	0.70493	0.34613	D	AEFDBHCI	0.141967	0.26429	N	0.29330149020774	0.55808	3.744946	0.141584442563453	0.46698	2.911595	0.999999848330045	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.67	3.81	0.43020	1.589000	0.36253	6.314000	0.55434	0.676000	0.76740	0.982000	0.35529	0.998000	0.33993	0.016000	0.10718	0.0:0.0:0.6387:0.3613	13.313	0.59830	624	0.65661	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.027273	0.025773	0.033967	0.035088	0.100000	0.051724	0.018405	0.003788	0.07143	231.83	40	chr4	2941692	.	G	A	231.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.207;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=-1.426;SOR=0.601	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1080	6	0	1	0
chr4	3074930	3074930	-	CAGCAGCAA	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.105_106insCAGCAGCAA:p.Q38_P39insQQQ	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs774733492	4.418e-05	4.379e-05	4.539e-05	4.295e-05	0.0006	3.431e-05	3.106e-05	0.0001	0.0001	0.0003	0	4.975e-05	0	0	0.0006	4.246e-05	2.022e-05	1.519e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	0	0	0	0	0	7.133e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	214.39	26	chr4	3074930	.	G	GCAGCAGCAA	214.39	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.611;DP=227;ExcessHet=0;FS=2.616;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.87;ReadPosRankSum=0.49;SOR=0.169	GT:AD:DP:GQ:PL	0/0:66,0:66:45:0,45,1682	5	0	1	1
chr4	3442889	3442889	C	G	exonic	HGFAC	.	nonsynonymous SNV	HGFAC:NM_001297439:exon2:c.C275G:p.S92W,HGFAC:NM_001528:exon2:c.C275G:p.S92W	.	422	1074	26	0	0	26	0.0119595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.368	0.298130451809	7.7e-05	0.00159744	0.0016	0	0.0019	0.0004	0	0.0004	0.0025	0.0098	0.0014489	224	154602	rs199767749	0.0008	0.0009	0.0006	0.0011	0.0090	0.0008	0.0008	0.0084	0.0082	6.48e-05	0.0011	4.251e-05	0.0001	0	0.0074	0.0003	0.0009	0.0090	0.0007	0.0007	0.0006	0.0008	0.0100	0.0006	0.0006	0.0077	0.0069	9.63e-05	0	0.0008	0	0	0	0.0068	0.0005	0.0043	0.0100	0.185	0.21550	T	0.015	0.61642	D	0.947	0.53479	P	0.367	0.43430	B	0.860091	0.08901	U	0.882545	0.999967	0.18878	N	0.805	0.20218	L	-2.55	0.89561	D	-0.33	0.12472	N	0.509	0.54059	-0.5275	0.67635	T	0.424	0.76816	T	10	0.005494565	0.00121	T	0.29813	0.90791	D	0.368	0.68757	.	.	0.504968073517	0.50134	0.43640903971464434	0.43557	0.210624317738	0.23558	0.569095015526	0.48549	T	0.047731	0.27809	T	-0.324838	0.06509	T	-0.234116	0.51373	T	0.0241400113216677	0.01163	T	0.649135	0.25986	T	0.033651676	0.03627	0.040767018	0.04483	0.033651676	0.03627	0.040767018	0.04482	-5.755	0.44180	T	.	.	0.134	0.40937	B	.;.	.;.	1.431416	0.18497	13.77	0.86557852664696322	0.16616	0.13757	0.18035	N	AEFDBHCI	0.441084	0.49938	N	-1.20330469427619	0.04951	0.2246092	-1.38654132267877	0.03394	0.158255	0.999998942615482	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.99	-0.856	0.10155	0.326000	0.19391	0.779000	0.21463	-1.329000	0.01219	0.001000	0.13787	0.000000	0.08366	0.013000	0.09966	0.0:0.4418:0.2409:0.3173	2.897	0.05343	862	0.33134	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.010101	0.002717	0.002924	0.000000	0.008621	0.003049	0.011364	0.07143	1128.53	54	chr4	3442889	.	C	G	1128.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.548;DP=296;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.9;ReadPosRankSum=1.23;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485:.	6	0	1	0
chr4	5640522	5640522	C	T	exonic	EVC2	.	nonsynonymous SNV	EVC2:NM_001166136:exon10:c.G1222A:p.G408S,EVC2:NM_147127:exon10:c.G1462A:p.G488S	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrofacial dysostosis, Autosomal dominant	4	1512	5	1	0	7	0.00230947	.	.	YES	265941	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome|EVC2-related_disorder|not_specified|not_provided	MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289|MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.101	0.00795651746499	0.0016	0.00139776	0.0020	0.0007	0.0016	0	0.0006	0.0029	0.0055	0.0013	0.0019534	302	154602	rs145277501	0.0028	0.0028	0.0028	0.0028	0.0033	0.0027	0.0027	0.0032	0.0031	0.0003	0.0023	0.0020	0.0001	0.0009	0.0021	0.0033	0.0026	0.0011	0.0020	0.0020	0.0023	0.0017	0.0037	0.0018	0.0018	0.0030	0.0027	0.0005	0	0.0037	0.0014	0.0002	0.0008	0.0068	0.0030	0.0019	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.003776	0.34511	N	0.254820	1	0.08975	N	-2.3	0.00097	N	-0.95	0.75438	T	1.72	0.00961	N	0.082	0.06720	-0.9852	0.33784	T	0.075	0.30210	T	10	0.00306651	0.00051	T	0.007957	0.21110	T	0.101	0.28911	.	.	0.458917189328	0.45515	0.041656732012887596	0.04110	0.0202767068331	0.01990	0.460519611835	0.33382	T	0.101759	0.40883	T	-0.540997	0.00330	T	-0.552932	0.17046	T	0.0026800264057817	0.00028	T	0.294271	0.05429	T	0.029580375	0.02476	0.0580257	0.10653	0.030638702	0.02760	0.06479058	0.13036	-3.188	0.13227	T	.	.	0.054	0.00297	B	.;.	.;.	1.455194	0.18768	13.91	0.3130098391141154	0.01757	0.00049	0.00384	N	AEFDGBI	0.027724	0.02318	N	-1.27132772250513	0.04025	0.1809046	-1.12782673027727	0.07172	0.3478884	0.999987188644489	0.51787	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.82	3.82	0.43153	1.585000	0.36210	1.634000	0.27755	-0.162000	0.11565	0.035000	0.20724	0.033000	0.21346	0.610000	0.31640	0.0:0.1985:0.0:0.8015	6.521	0.21474	958	0.09170	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003525	0.000000	0.006793	0.002924	0.000000	0.000000	0.003049	0.003788	0.1429	237.31	50	chr4	5640522	.	C	T	237.31	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.59;DP=384;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=26.37;ReadPosRankSum=-0.282;SOR=0.446	GT:AD:DP:GQ:PL	0/0:92,0:92:99:0,120,1800	6	1	0	0
chr4	6301807	6301807	C	T	exonic	WFS1	.	nonsynonymous SNV	WFS1:NM_001145853:exon8:c.C2012T:p.A671V,WFS1:NM_006005:exon8:c.C2012T:p.A671V	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	0	1508	12	2	0	16	0.00527704	.	.	YES	54612	Autosomal_dominant_nonsyndromic_hearing_loss_6|WFS1-Related_Spectrum_Disorders|not_provided|not_specified|Monogenic_diabetes|Wolfram_syndrome_1	MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|MedGen:CN239410|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.296	.	7.7e-05	0.0119808	0.0070	0.0003	0.0003	0.0006	0	9.02e-05	0.0044	0.0504	0.0060478	935	154602	rs71530907	0.0029	0.0029	0.0017	0.0041	0.0445	0.0028	0.0028	0.0433	0.0428	0.0003	8.944e-05	3.826e-05	0.0005	0.0004	0.0031	8.184e-05	0.0041	0.0445	0.0018	0.0018	0.0011	0.0025	0.0481	0.0016	0.0015	0.0430	0.0410	0.0003	0	0.0003	0	0.0008	0.0003	0	0.0001	0.0024	0.0481	0.564	0.06302	T	0.426	0.13872	T	0.45	0.36066	B	0.08	0.28873	B	0.160557	0.03035	N	1.616490	0.999999	0.08975	N	0.55	0.14455	N	-4.15	0.96798	D	-1.43	0.35194	N	0.141	0.14054	0.041	0.83063	D	0.644	0.87571	D	10	0.00240466	0.00036	T	.	.	.	0.296	0.61616	.	.	0.848237714454	0.84678	0.6132834489544796	0.61260	.	.	0.350450336933	0.17988	T	0.183851	0.53632	T	-0.278082	0.10871	T	-0.137184	0.60361	T	0.00292918279100071	0.00031	T	0.721828	0.33531	T	0.022257045	0.00876	0.03273608	0.02056	0.020004798	0.00545	0.029667282	0.01330	-6.314	0.48832	T	0.22181369628146905	0.29920	0.083	0.09239	B	.;.	.;.	-0.247339	0.02858	0.403	0.77762828207817403	0.12012	0.02613	0.07191	N	AEFBI	0.079126	0.15977	N	-1.38612734848037	0.02767	0.1226622	-1.51435046599051	0.02233	0.1024051	0.997934837202629	0.36211	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	-8.29	0.00884	-0.013000	0.12615	-0.579000	0.08386	-0.985000	0.01878	0.002000	0.15269	0.000000	0.08366	0.029000	0.12982	0.187:0.1633:0.0:0.6497	6.899	0.23451	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.002717	0.008772	0.000000	0.000000	0.003049	0.003788	0.07143	1941.46	59	chr4	6301807	.	C	T	1941.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.879;DP=548;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=-0.482;SOR=0.682	GT:AD:DP:GQ:PL	0/0:95,0:95:99:0,120,1800	6	0	1	0
chr4	6301953	6301953	A	G	exonic	WFS1	.	nonsynonymous SNV	WFS1:NM_001145853:exon8:c.A2158G:p.I720V,WFS1:NM_006005:exon8:c.A2158G:p.I720V	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	0	1511	11	0	0	11	0.00362677	.	.	.	141622	Monogenic_diabetes|WFS1-Related_Spectrum_Disorders|not_provided|not_specified|Wolfram_syndrome_1|Cataract_41|Autosomal_dominant_nonsyndromic_hearing_loss_6|Type_2_diabetes_mellitus|Wolfram-like_syndrome|Diabetes_mellitus	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:CN239410|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463|MONDO:MONDO:0007287,MedGen:C3805412,OMIM:116400,Orphanet:91492,Orphanet:98991,Orphanet:98992,Orphanet:98995|MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0013673,MedGen:C3280358,OMIM:614296,Orphanet:411590|Human_Phenotype_Ontology:HP:0000819,Human_Phenotype_Ontology:HP:0004908,Human_Phenotype_Ontology:HP:0008217,Human_Phenotype_Ontology:HP:0008234,Human_Phenotype_Ontology:HP:0008260,MONDO:MONDO:0005015,MedGen:C0011849	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.433	.	0.0003	0.014976	0.0074	0.0001	0	0.0599	0.0186	0.0027	0.0219	0.0029	0.0065394	1011	154602	rs1805070	0.0036	0.0036	0.0036	0.0036	0.0698	0.0035	0.0035	0.0676	0.0667	8.962e-05	0.0001	0.0011	0.0698	0.0224	0.0010	0.0006	0.0060	0.0027	0.0045	0.0045	0.0032	0.0059	0.0642	0.0042	0.0041	0.0585	0.0563	9.619e-05	0	0.0003	0.0006	0.0642	0.0203	0	0.0013	0.0038	0.0052	0.201	0.20306	T	0.224	0.25591	T	0.004	0.12183	B	0.014	0.16862	B	0.000003	0.62929	N	0.100429	0.740196	0.33814	D	1.39	0.34934	L	-4.15	0.96798	D	-0.57	0.17210	N	0.186	0.20262	-0.2873	0.75340	T	0.280	0.65149	T	10	0.0034231544	0.00060	T	.	.	.	0.433	0.73879	.	.	0.92911295316	0.92838	0.5829553482745569	0.58224	.	.	0.468299537897	0.34447	T	0.145148	0.48213	T	-0.211243	0.19203	T	-0.0119817	0.69556	D	0.0144258577593717	0.00291	T	0.813919	0.46746	T	0.035162937	0.04086	0.0638598	0.12712	0.04181572	0.06228	0.05910474	0.11036	-3.417	0.15286	T	0.15401895742049693	0.18365	0.068	0.03026	B	.;.	.;.	1.359349	0.17679	13.31	0.96611758788161461	0.30445	0.93496	0.58375	D	AEFDBI	0.494324	0.53017	N	-0.349017230391587	0.27307	1.497231	-0.236204943316298	0.30249	1.701557	0.0881872003004449	0.16054	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	0.341	0.15229	3.912000	0.56099	0.906000	0.22588	0.653000	0.53440	1.000000	0.71638	0.453000	0.24963	0.946000	0.48989	0.7098:0.0:0.2902:0.0	8.843	0.34310	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.011364	0.08333	1144.27	59	chr4	6301953	.	A	G	1144.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.974;DP=544;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=-1.148;SOR=0.784	GT:AD:DP:GQ:PL	0/0:95,0:95:99:0,120,1800	5	0	1	1
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1395.26	65	chr4	6862306	.	T	C	1395.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.044;DP=565;ExcessHet=11.5949;FS=236.492;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.6;ReadPosRankSum=0.983;SOR=10.163	GT:AD:DP:GQ:PL	0/1:76,31:107:99:294,0,1685	0	0	6	1
chr4	7778866	7778866	T	C	exonic	AFAP1	.	nonsynonymous SNV	AFAP1:NM_001371090:exon12:c.A1541G:p.K514R,AFAP1:NM_198595:exon13:c.A1541G:p.K514R,AFAP1:NM_001134647:exon14:c.A1793G:p.K598R,AFAP1:NM_001371091:exon14:c.A1541G:p.K514R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00294066784687	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1346456026	2.399e-05	2.394e-05	2.592e-05	2.204e-05	2.974e-05	1.742e-05	1.542e-05	2.121e-05	1.866e-05	0	2.238e-05	0	0	0	0	2.974e-05	1.659e-05	0	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.63	0.21467	T	0.497	0.13328	T	0.935	0.52277	P	0.499	0.47621	P	0.004116	0.34102	N	0.337865	0.963757	0.38367	D	2.42	0.70002	M	2.44	0.15724	T	-0.5	0.18877	N	0.469	0.50778	-1.0388	0.17678	T	0.067	0.27502	T	10	0.22365162	0.39149	T	0.002941	0.06250	T	0.081	0.23632	0.286	0.24440	0.158396225186	0.15383	0.22514742098958487	0.22429	0.0737544068941	0.08270	0.476873189211	0.35627	T	0.008665	0.07944	T	-0.231168	0.16495	T	-0.486968	0.23710	T	0.506636202335358	0.32873	D	0.89811	0.64401	D	0.071811244	0.15925	0.06769117	0.14038	0.071811244	0.15924	0.06769117	0.14038	-2.892	0.26053	T	.	.	0.073	0.06663	B	.;.;.;.	.;.;.;.	3.529247	0.49512	22.8	0.99827379923133008	0.90939	0.87643	0.47250	D	AEDBCIJ	0.577628	0.57915	D	0.361067468692673	0.59328	4.111127	0.355484022082124	0.58839	4.057066	0.999999996136247	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.66	4.66	0.57857	4.775000	0.62040	2.623000	0.33646	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.919000	0.45453	0.0:0.0:0.0:1.0	14.289	0.65817	958	0.09170	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	939.27	42	chr4	7778866	.	T	C	939.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.2;DP=293;ExcessHet=0;FS=1.816;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-0.093;SOR=0.965	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	5	0	1	1
chr4	8227652	8227652	G	A	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon12:c.G1730A:p.R577Q,SH3TC1:NM_018986:exon12:c.G1958A:p.R653Q	.	.	.	.	.	.	.	.	.	.	.	4070862	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.402	0.58427422585	.	.	3.171e-05	0	0.0002	0	0	1.856e-05	0	0	1.94e-05	3	154602	rs372583178	1.6e-05	1.642e-05	1.428e-05	1.778e-05	0.0001	1.048e-05	8.95e-06	4.264e-05	2.595e-05	0	0.0001	0	0	0	0	1.027e-05	3.541e-05	6.988e-05	4.6e-05	4.597e-05	7.708e-05	1.345e-05	8.819e-05	2.109e-05	1.527e-05	3.761e-05	2.575e-05	2.413e-05	0	0	0	0	0	0	8.819e-05	0	0	0.007	0.59928	D	0.021	0.58089	D	1.0	0.90584	D	0.979	0.74454	D	0.000235	0.47286	D	0.138388	0.898075	0.28266	N	2.67	0.78151	M	-0.62	0.71895	T	-2.84	0.59873	D	0.19	0.20793	-0.4223	0.71316	T	0.456	0.78784	T	10	0.6383041	0.68909	D	0.584274	0.96285	D	0.402	0.71558	.	.	0.732658207706	0.73027	0.29427374497470854	0.29340	0.0453608421685	0.04917	0.441378027201	0.30764	T	0.043848	0.26632	T	-0.220085	0.17981	T	-0.317245	0.42876	T	0.640078783035278	0.38041	D	0.790821	0.43180	T	0.15252525	0.34619	0.090294905	0.21166	0.15252525	0.34619	0.090294905	0.21166	-7.363	0.56643	T	.	.	0.083	0.09433	B	.	.	2.439007	0.31391	18.73	0.99898446360496063	0.97048	0.46993	0.27883	N	AEFDBCI	0.176925	0.30415	N	0.241793332271646	0.53235	3.493279	0.0690114002615695	0.42999	2.610943	0.999999990924872	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.578056	0.29568	0	0.636168	0.56350	0	.	.	4.16	3.14	0.35196	3.353000	0.51962	1.695000	0.28095	-0.194000	0.09177	0.999000	0.42656	0.481000	0.25102	0.003000	0.05239	0.507:0.0:0.493:0.0	3.011	0.05678	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.000000	0.000000	0.000000	0.008772	0.000000	0.000000	0.07143	907.49	41	chr4	8227652	.	G	A	907.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.14;DP=281;ExcessHet=0;FS=4.853;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-0.889;SOR=1.055	GT:AD:DP:GQ:PL	0/1:37,30:67:99:918,0,919	6	0	1	0
chr4	8227738	8227738	G	A	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon12:c.G1816A:p.E606K,SH3TC1:NM_018986:exon12:c.G2044A:p.E682K	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.553	.	0.0034	0.00479233	0.0012	0.0147	0.0002	0	0	5.177e-05	0.0014	0	0.0010673	165	154602	rs28373389	0.0004	0.0004	0.0004	0.0003	0.0121	0.0003	0.0003	0.0111	0.0107	0.0121	0.0004	0	2.528e-05	0	0.0009	4.429e-05	0.0008	7.031e-05	0.0035	0.0035	0.0035	0.0034	0.0121	0.0032	0.0031	0.0112	0.0109	0.0121	0	0.0008	0	0	0	0	0.0001	0.0014	0	0.005	0.63226	D	0.028	0.54934	D	0.999	0.77913	D	0.95	0.68788	D	0.063238	0.22041	N	0.482229	0.555909	0.32172	D	2.72	0.79541	M	-0.24	0.66834	T	-3.34	0.66325	D	0.446	0.48411	0.144	0.84949	D	0.390	0.74423	T	10	0.009413213	0.00212	T	.	.	.	0.553	0.81544	.	.	0.784758495626	0.78276	0.1983896262466883	0.19755	0.223266731132	0.24851	0.749851882458	0.74425	T	0.046391	0.27410	T	-0.289675	0.09669	T	-0.177843	0.56722	T	0.0317274121131706	0.02262	T	0.920308	0.71149	D	0.3514037	0.57176	0.40442678	0.64870	0.3514037	0.57176	0.40442678	0.64870	-9.086	0.68248	D	.	.	0.164	0.36275	B	.	.	4.691609	0.75187	26.3	0.99912624074408352	0.98167	0.87723	0.47359	D	AEFDBCI	0.482423	0.52329	N	0.46570412955227	0.65099	4.780113	0.404780847723544	0.61861	4.392385	0.999999987600345	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.578056	0.29568	0	0.735409	0.98432	0	.	.	4.46	3.59	0.40253	3.885000	0.55896	7.158000	0.57695	0.588000	0.31329	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.2843:0.7157:0.0	14.174	0.65069	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003030	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1084.53	33	chr4	8227738	.	G	A	1084.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.227;DP=273;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=-0.226;SOR=0.632	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	6	0	1	0
chr4	8468247	8468247	G	T	exonic	TRMT44	.	nonsynonymous SNV	TRMT44:NM_001350233:exon9:c.G1105T:p.D369Y,TRMT44:NM_152544:exon9:c.G1828T:p.D610Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.00870528423977	.	0.000399361	7.416e-05	0	0	0	0	0	0	0.0005	7.12e-05	11	154602	rs538896665	2.599e-05	2.668e-05	1.633e-05	3.575e-05	0.0004	1.932e-05	1.692e-05	0.0003	0.0002	0	0	0	0	0	0	5.396e-06	1.656e-05	0.0004	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0	0.0002	0.006	0.72154	D	0.008	0.67890	D	0.999	0.77913	D	0.957	0.69900	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	3.165	0.88605	M	2.12	0.20255	T	-6.04	0.90023	D	0.812	0.81957	-0.6828	0.61243	T	0.173	0.51500	T	10	0.62944525	0.68431	D	0.008705	0.22976	T	0.348	0.66956	0.6	0.73105	0.418095516054	0.41424	0.700923703153454	0.70033	0.135669409834	0.15297	0.563972592354	0.47828	T	0.261741	0.63325	T	-0.126808	0.32013	T	-0.103771	0.63103	T	0.795565724372864	0.46055	D	0.886311	0.61284	D	0.8023243	0.84054	0.6500772	0.79528	0.8023243	0.84056	0.6500772	0.79529	-16.64	0.98881	D	.	.	0.294	0.53747	B	.;.	.;.	3.509470	0.49139	22.7	0.989651932264065	0.49423	0.97333	0.74089	D	AEFDBI	0.377965	0.46154	N	0.431740533038596	0.63175	4.546302	0.270352443106045	0.53815	3.548787	0.999999999999744	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.7	4.7	0.58776	4.620000	0.60927	5.648000	0.49173	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.465000	0.28230	0.0:0.0:1.0:0.0	17.816	0.88545	951	0.11083	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1243.44	34	chr4	8468247	.	G	T	1243.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.578;DP=291;ExcessHet=0;FS=0.755;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=1.54;SOR=0.596	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1226	6	0	1	0
chr4	8604133	8604133	C	A	exonic	CPZ	.	nonsynonymous SNV	CPZ:NM_003652:exon3:c.C621A:p.D207E,CPZ:NM_001014447:exon4:c.C654A:p.D218E,CPZ:NM_001014448:exon4:c.C243A:p.D81E	.	422	1049	27	1	23	52	0.0136342	.	.	.	3206958	CPZ-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.082	.	.	0.00359425	0.0113	0.0042	0.0118	0	0.0012	0.0158	0.0209	0.0077	0.0059249	916	154602	rs28421391	0.0081	0.0081	0.0080	0.0082	0.0329	0.0080	0.0080	0.0290	0.0275	0.0026	0.0069	0.0191	2.597e-05	0.0011	0.0329	0.0087	0.0089	0.0060	0.0064	0.0064	0.0068	0.0061	0.0094	0.0061	0.0060	0.0082	0.0079	0.0028	0	0.0094	0.0138	0	0.0007	0.0408	0.0087	0.0118	0.0077	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.06944	B	0.030854	0.25250	N	0.435749	1	0.81001	D	-2.86	0.00020	N	3.38	0.05778	T	1.52	0.00719	N	0.104	0.08786	-0.9370	0.43088	T	0.002	0.00676	T	10	0.0054033995	0.00119	T	.	.	.	0.082	0.23913	0.377	0.39156	0.371718192555	0.36778	0.4251529541912322	0.42432	0.00378164286504	0.00325	0.465445458889	0.34057	T	0.014025	0.12018	T	-0.67938	0.00048	T	-0.741694	0.03820	T	0.0090220682863954	0.00113	T	0.558744	0.19484	T	0.023960322	0.01182	0.026698772	0.00774	0.03801165	0.04983	0.026698772	0.00774	0.284	0.00274	T	0.04000093292292632	0.00342	0.079	0.14751	B	.;.;.	.;.;.	-1.540176	0.00272	0.004	0.92848179743538006	0.22386	0.06174	0.12157	N	AEFDBHCI	0.068660	0.13554	N	-1.52204740467275	0.01705	0.07463004	-1.38926570228566	0.03365	0.1568363	0.99825109803091	0.36648	0.718356	0.82227	0	0.547309	0.14657	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	3.86	-3.98	0.03810	-1.293000	0.02878	-11.402000	0.00608	-0.185000	0.09859	0.005000	0.17040	0.000000	0.08366	0.818000	0.38543	0.3608:0.1816:0.1947:0.2629	0.154	0.00090	982	0.03397	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Metallocarboxypeptidase Z, carboxypeptidase domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	1407.49	40	chr4	8604133	.	C	A	1407.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.59;DP=329;ExcessHet=0;FS=0.788;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=0.718;SOR=0.55	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	6	0	1	0
chr4	8607360	8607360	-	AG	exonic	CPZ	.	stopgain	CPZ:NM_003652:exon6:c.1129_1130insAG:p.Y377*,CPZ:NM_001014447:exon7:c.1162_1163insAG:p.Y388*,CPZ:NM_001014448:exon7:c.751_752insAG:p.Y251*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.651e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs780023309	2.121e-05	2.121e-05	1.634e-05	2.613e-05	0.0002	1.52e-05	1.324e-05	0.0001	0.0001	0	0.0002	0	0	0	0	1.709e-05	1.656e-05	0	0.0002	0.0002	0.0001	0.0002	0.0015	0.0001	9.242e-05	0.0010	0.0009	0	0	0.0015	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	2378.59	33	chr4	8607360	.	T	TAG	2378.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.342;DP=322;ExcessHet=0;FS=1.374;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.88;ReadPosRankSum=-0.032;SOR=0.803	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1109	6	0	1	0
chr4	8612035	8612035	G	T	exonic	CPZ	.	nonsynonymous SNV	CPZ:NM_003652:exon7:c.G1203T:p.K401N,CPZ:NM_001014447:exon8:c.G1236T:p.K412N,CPZ:NM_001014448:exon8:c.G825T:p.K275N	.	429	1031	57	5	0	67	0.0314702	.	.	.	3210197	CPZ-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.167	.	0.0018	0.00938498	0.0060	0.0002	0.0016	0	0.0002	0.0025	0.0113	0.0326	0.0054333	840	154602	rs147588134	0.0037	0.0037	0.0027	0.0047	0.0326	0.0036	0.0036	0.0316	0.0312	0.0003	0.0022	0.0050	7.557e-05	0.0003	0.0170	0.0017	0.0049	0.0326	0.0027	0.0027	0.0024	0.0031	0.0328	0.0025	0.0024	0.0286	0.0270	0.0004	0.0011	0.0035	0.0049	0.0002	0.0002	0.0272	0.0021	0.0062	0.0328	0.002	0.72154	D	0.007	0.70582	D	0.988	0.64738	D	0.932	0.66722	D	0.000094	0.51296	U	0.169417	0.874553	0.35628	D	3.36	0.91202	M	2.71	0.12055	T	-3.04	0.64826	D	0.739	0.73916	-1.0183	0.24269	T	0.061	0.25563	T	10	0.006847203	0.00156	T	.	.	.	0.167	0.42761	0.538	0.64874	0.221019684889	0.21715	0.8342579297678895	0.83384	0.0121608488562	0.01158	0.535313785076	0.43783	T	0.163735	0.50891	T	-0.449663	0.01134	T	-0.394311	0.34046	T	0.0589441289532621	0.07000	T	0.791621	0.43272	T	0.79185885	0.83389	0.6615037	0.80165	0.7905499	0.83309	0.6615037	0.80165	-9.596	0.71455	D	0.5773041222848564	0.64423	0.643	0.71505	P	.;.;.	.;.;.	3.735368	0.53455	23.4	0.99758725900344469	0.84851	0.88154	0.47958	D	AEFBCI	0.492857	0.52932	N	0.224873122376152	0.52407	3.415049	0.122245908937183	0.45689	2.827621	0.461819498697238	0.20630	0.650006	0.45971	0	0.573888	0.26702	0	0.606735	0.37207	0	0.604944	0.38103	0	.	.	4.1	2.36	0.28258	1.955000	0.39997	6.090000	0.53436	-0.169000	0.11342	0.999000	0.42656	1.000000	0.68203	0.990000	0.65344	0.2816:0.0:0.7184:0.0	8.690	0.33424	982	0.03397	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Metallocarboxypeptidase Z, carboxypeptidase domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017120	0.005051	0.010870	0.011696	0.000000	0.025862	0.036585	0.034091	0.07143	4336.44	35	chr4	8612035	.	G	T	4336.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.687;DP=842;ExcessHet=0;FS=0.522;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=1.29;SOR=0.63	GT:AD:DP:GQ:PL	0/1:219,205:424:99:4347,0,4799	6	0	1	0
chr4	9210768	9210768	C	G	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.C112G:p.P38A	.	677	833	12	0	0	12	0.00715137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0015459483867	.	.	.	.	.	.	.	.	.	.	.	.	.	rs754133272	0.0004	0.0014	0.0004	0.0004	0.0014	0.0003	0.0003	0.0003	0.0003	0.0004	0.0004	0.0010	0	0.0013	0.0014	0.0004	0.0004	0.0004	0	0.0009	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.048	0.41915	D	0.011	0.65728	D	.	.	.	.	.	.	0.864414	0.08871	U	0.896444	1	0.08975	N	2.115	0.58683	M	2.41	0.15492	T	-3.47	0.67824	D	0.205	0.23125	-0.9713	0.36925	T	0.036	0.15553	T	7	0.13079363	0.24892	T	0.001546	0.02420	T	0.045	0.12272	0.208	0.12497	0.110078149338	0.10416	0.020390398911889974	0.01992	.	.	0.469341129065	0.34589	T	0.062536	0.31943	T	-0.279078	0.10765	T	-0.638653	0.09767	T	0.200948345136473	0.20468	T	0.732227	0.34774	T	0.09496307	0.22339	0.15532763	0.36414	0.09496307	0.22339	0.15532763	0.36413	-3.727	0.19717	T	.	.	0.082	0.08705	B	.;.	.;.	0.587323	0.09560	6.333	0.75078402490821039	0.10937	0.01658	0.05317	N	AEFI	0.025428	0.01739	N	-0.724146622873609	0.15345	0.772478	-0.928985853526401	0.11412	0.5812106	3.04856071153045E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	-0.237000	0.09007	.	.	0.397000	0.20528	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	36.63	10	chr4	9210768	.	C	G	36.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.213;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=20.62;MQRankSum=0.903;QD=3.66;ReadPosRankSum=-0.33;SOR=0.223	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr4	9243949	9243949	G	A	exonic	USP17L17	.	nonsynonymous SNV	USP17L17:NM_001256857:exon1:c.G71A:p.R24Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.577274667696	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1348310188	8.479e-06	4.763e-05	4.575e-06	1.185e-05	1.047e-05	1.98e-06	1.34e-06	2.79e-06	7.7e-07	0	0	0	0	0	0	1.047e-05	3.699e-05	0	0	3.321e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.395	0.10659	T	0.681	0.06090	T	.	.	.	.	.	.	0.009125	0.01230	N	82.304000	1	0.08975	N	.	.	.	2.72	0.11947	T	0.13	0.05503	N	0.059	0.04307	-1.0113	0.26510	T	0.019	0.07753	T	7	0.14243728	0.27053	T	0.577275	0.96199	D	0.025	0.05312	0.353	0.35246	0.0482279557977	0.04254	0.05032525393167854	0.04975	.	.	0.453571140766	0.32432	T	0.005	0.04113	T	-0.363968	0.03911	T	-0.760592	0.03091	T	0.0923963636159897	0.11498	T	0.738526	0.35642	T	0.054294392	0.10398	0.06596569	0.13445	0.054294392	0.10398	0.06596569	0.13444	-3.11	0.11411	T	.	.	0.080	0.07554	B	.;.	.;.	1.003661	0.13822	10.37	0.78325054079193202	0.12252	0.00081	0.00551	N	AEFI	0.023151	0.01251	N	-0.95166852704938	0.09656	0.4579098	-1.12208298280628	0.07280	0.3534836	1.14241020842926E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.37	0.37	0.15392	0.018000	0.13315	.	.	0.301000	0.18947	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	416.44	194	chr4	9243949	.	G	A	416.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.122;DP=2044;ExcessHet=0;FS=0.827;MLEAC=1;MLEAF=0.071;MQ=34.01;MQRankSum=-1.264;QD=0.98;ReadPosRankSum=1.47;SOR=0.557	GT:AD:DP:GQ:PL	0/0:439,0:439:99:0,120,1800	6	0	1	0
chr4	9243997	9243997	A	T	exonic	USP17L17	.	nonsynonymous SNV	USP17L17:NM_001256857:exon1:c.A119T:p.K40M	.	712	801	9	0	0	9	0.00558659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.509975169103	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411951281	0.0009	0.0032	0.0010	0.0008	0.0015	0.0008	0.0008	0.0012	0.0010	0.0009	0.0003	0.0004	0.0015	0.0038	0	0.0006	0.0010	0.0005	0.0014	0.0027	0.0011	0.0018	0.0042	0.0012	0.0011	0.0018	0.0013	0.0018	0	0.0013	0.0015	0.0042	0.0032	0	0.0007	0.0057	0.0021	0.012	0.54683	D	0.018	0.61642	D	.	.	.	.	.	.	0.012664	0.01342	U	6.938180	1	0.08975	N	.	.	.	2.63	0.12884	T	-2.84	0.59873	D	0.191	0.21188	-1.0194	0.23910	T	0.025	0.10821	T	7	0.066975534	0.09266	T	0.509975	0.95286	D	0.059	0.16972	.	.	0.0551355673512	0.04727	0.056118507793840894	0.05552	.	.	0.531031668186	0.43179	T	0.064838	0.32536	T	-0.270228	0.11732	T	-0.62594	0.10725	T	0.860417008399963	0.51089	D	0.692631	0.30204	T	0.2530868	0.48329	0.18468305	0.41536	0.2530868	0.48328	0.18468305	0.41535	-5.244	0.39386	T	.	.	0.134	0.29144	B	.;.	.;.	2.474046	0.31895	18.88	0.98119505271263885	0.38424	0.00703	0.02985	N	AEFI	0.025818	0.01832	N	-0.871805404037688	0.11517	0.5562017	-1.08386275816897	0.08018	0.3924214	1.37642099307455E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.37	-0.739	0.10560	0.246000	0.17935	.	.	0.324000	0.19419	0.001000	0.13787	0.000000	0.08366	0.082000	0.17360	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	311.83	52	chr4	9243997	.	A	T	311.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-7.143;DP=397;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=24.41;MQRankSum=1.47;QD=2.78;ReadPosRankSum=-0.714;SOR=0.026	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:60,0:60:99:.:.:0,102,1530:.	6	0	1	0
chr4	9340048	9340048	A	T	exonic	USP17L24;USP17L25;USP17L26;USP17L27;USP17L28;USP17L29;USP17L30;USP17L5	.	nonsynonymous SNV	USP17L25:NM_001242326:exon1:c.A646T:p.T216S,USP17L24:NM_001242327:exon1:c.A646T:p.T216S,USP17L26:NM_001242328:exon1:c.A646T:p.T216S,USP17L5:NM_001242329:exon1:c.A646T:p.T216S,USP17L27:NM_001242330:exon1:c.A646T:p.T216S,USP17L28:NM_001242331:exon1:c.A646T:p.T216S,USP17L29:NM_001242332:exon1:c.A646T:p.T216S,USP17L30:NM_001256867:exon1:c.A646T:p.T216S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.358814085286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.202e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.062	0.45318	T	.	.	.	.	.	.	0.000082	0.51296	N	0.073236	0.995135	0.23364	N	2.72	0.79541	M	3.35	0.05989	T	-3.35	0.66436	D	0.124	0.11626	-1.0965	0.04542	T	0.031	0.13418	T	7	0.2523764	0.42591	T	0.358814	0.92459	D	0.095	0.27398	0.639	0.77579	0.132336055621	0.12781	0.010314697607500345	0.00992	.	.	0.517355918884	0.41253	T	0.024066	0.18256	T	-0.281594	0.10499	T	-0.642267	0.09505	T	0.892876267433167	0.54402	D	0.712229	0.32360	T	0.27373663	0.50440	0.25910306	0.51654	0.27373663	0.50440	0.25910306	0.51653	-7.389	0.56827	T	.	.	0.306	0.53433	B	.	.	2.209729	0.28189	17.71	0.98056432311961472	0.37913	0.28131	0.23469	N	AEFI	0.084642	0.17156	N	-0.134035447503074	0.35917	2.069177	-0.270965109891691	0.29059	1.625109	2.09279452371683E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.256	0.256	0.14825	2.072000	0.41135	.	.	0.494000	0.22454	0.039000	0.20931	0.000000	0.08366	0.197000	0.21808	.	.	.	970	0.06235	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	1.0	43.18	2	chr4	9340048	.	A	T	43.18	.	AC=2;AF=1;AN=2;DP=2;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=40;QD=21.59;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	0	1	0	6
chr4	13602410	13602410	T	C	exonic	BOD1L1	.	nonsynonymous SNV	BOD1L1:NM_148894:exon10:c.A4490G:p.Q1497R	.	428	1063	29	2	0	33	0.0152849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0069	0.00658946	0.0105	0.0016	0.0023	0	0.0135	0.0117	0.0133	0.0215	0.0099805	1543	154602	rs61995956	0.0095	0.0095	0.0091	0.0099	0.0220	0.0094	0.0093	0.0211	0.0208	0.0011	0.0025	0.0016	7.557e-05	0.0120	0.0108	0.0096	0.0081	0.0220	0.0068	0.0068	0.0064	0.0073	0.0226	0.0065	0.0063	0.0192	0.0179	0.0015	0.0011	0.0032	0.0014	0	0.0143	0.0102	0.0094	0.0076	0.0226	0.004	0.65419	D	0.046	0.49120	D	0.608	0.39540	P	0.156	0.34472	B	0.618964	0.10796	N	0.801023	1	0.08975	N	2.36	0.67893	M	3.14	0.07920	T	-1.47	0.35991	N	0.043	0.01577	-0.9586	0.39442	T	0.008	0.02720	T	10	0.003915727	0.00075	T	.	.	.	0.028	0.06331	.	.	.	.	0.15328428292832674	0.15250	0.05194464885	0.05714	0.293053716421	0.09369	T	0.022478	0.17323	T	-0.566169	0.00233	T	-0.569782	0.15470	T	0.0101450160726192	0.00137	T	0.474053	0.14146	T	0.19912675	0.41840	0.14007954	0.33402	0.19912675	0.41840	0.14007954	0.33401	-3.313	0.13906	T	.	.	0.097	0.15788	B	.	.	0.400505	0.07718	4.396	0.98039770082843836	0.37782	0.15683	0.19031	N	AEFGBCI	0.034002	0.04137	N	-0.683719391818305	0.16486	0.8403416	-0.753245090606846	0.15643	0.8237233	0.998625092751285	0.37330	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.23	2.66	0.30672	0.428000	0.21114	0.273000	0.16680	0.665000	0.62972	0.004000	0.16614	0.062000	0.22056	0.024000	0.12247	0.0:0.0782:0.3034:0.6184	6.438	0.21037	612	0.66786	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.006793	0.005848	0.000000	0.000000	0.012195	0.018939	0.1667	3198.9	34	chr4	13602410	.	T	C	3198.9	.	AC=2;AF=0.167;AN=12;DP=427;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.47;SOR=0.876	GT:AD:DP:GQ:PL	0/0:144,0:144:99:0,120,1800	5	1	0	1
chr4	15003254	15003254	-	GCC	exonic	CPEB2	.	nonframeshift insertion	CPEB2:NM_001177381:exon1:c.581_582insGCC:p.L202_G682delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRMDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNARSYGRRRGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_001177382:exon1:c.581_582insGCC:p.P201_L202insP,CPEB2:NM_001177383:exon1:c.581_582insGCC:p.L202_G679delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNARSYGRRRGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_001177384:exon1:c.581_582insGCC:p.L202_G682delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRMDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_182485:exon1:c.581_582insGCC:p.L202_G709delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRSSLQLPAWGSDSLQDSWCTAAGTSRIDQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_182646:exon1:c.581_582insGCC:p.L202_G679delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*	.	0	191	27	1	7	36	0.0705596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0142	0.0111	0.0222	0.0224	0	0.0065	0.0192	0.0167	0.0002305	6	26028	rs560468327	0.0034	0.0034	0.0029	0.0038	0.0285	0.0033	0.0032	0.0269	0.0262	0.0285	0.0034	0.0094	0.0107	0.0001	0.0136	0.0013	0.0056	0.0155	0.0097	0.0097	0.0098	0.0096	0.0256	0.0093	0.0091	0.0244	0.0238	0.0256	0	0.0049	0.0095	0.0097	0	0.0140	0.0021	0.0101	0.0185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051758	0.027778	0.026923	0.069307	0.000000	0.000000	0.041667	0.085938	0.08333	799.23	11	chr4	15003254	.	A	AGCC	799.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.802;DP=160;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.76;ReadPosRankSum=1.77;SOR=0.807	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1126	5	0	1	1
chr4	15004115	15004120	GCGGCG	-	exonic	CPEB2	.	nonframeshift deletion	CPEB2:NM_001177381:exon1:c.1442_1447del:p.G486_G682delinsFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRMDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNARSYGRRRGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_001177382:exon1:c.1442_1447del:p.G486_G487del,CPEB2:NM_001177383:exon1:c.1442_1447del:p.G486_G679delinsFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNARSYGRRRGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_001177384:exon1:c.1442_1447del:p.G486_G682delinsFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRMDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_182485:exon1:c.1442_1447del:p.G486_G709delinsFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRSSLQLPAWGSDSLQDSWCTAAGTSRIDQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_182646:exon1:c.1442_1447del:p.G486_G679delinsFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0	0.0003	0.0059	0	8.591e-05	0	9.33e-05	0.0002846	44	154602	rs778578129	0.0003	0.0004	0.0003	0.0002	0.0058	0.0002	0.0002	0.0052	0.0049	7.381e-05	0.0002	0	0.0058	0	0.0002	8.573e-05	0.0012	6.468e-05	0.0003	0.0003	0.0004	0.0003	0.0055	0.0002	0.0002	0.0039	0.0033	0.0001	0	0.0003	0	0.0055	0	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	224.59	33	chr4	15004114	.	AGCGGCG	A	224.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.389;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.72;ReadPosRankSum=-0.931;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1004	6	0	1	0
chr4	15515909	15515909	T	C	exonic	CC2D2A	.	nonsynonymous SNV	CC2D2A:NM_001378617:exon8:c.T775C:p.F259L,CC2D2A:NM_001378615:exon10:c.T922C:p.F308L,CC2D2A:NM_001080522:exon11:c.T922C:p.F308L	COACH syndrome, Autosomal recessive;Joubert syndrome 9, Autosomal recessive;Meckel syndrome 6, Autosomal recessive	0	1506	16	0	0	16	0.00528402	.	.	.	500929	CC2D2A-related_disorder|not_provided|Meckel-Gruber_syndrome|Joubert_syndrome|not_specified|Meckel_syndrome,_type_6|Joubert_syndrome_9	MedGen:CN239313|MedGen:C3661900|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MedGen:CN169374|MONDO:MONDO:0012848,MedGen:C2676790,OMIM:612284,Orphanet:564|MONDO:MONDO:0012849,MedGen:C2676788,OMIM:612285,Orphanet:2318	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.103	0.0037931172752	0.0002	0.000798722	0.0034	0	0.0042	0	0	0.0004	0.0047	0.0087	0.0006856	106	154602	rs201465430	0.0005	0.0006	0.0003	0.0008	0.0073	0.0005	0.0005	0.0068	0.0066	3.146e-05	0.0002	0	0	0	0.0033	0.0001	0.0007	0.0073	0.0003	0.0003	0.0002	0.0004	0.0054	0.0002	0.0002	0.0038	0.0032	4.812e-05	0	0.0003	0	0.0002	0	0.0102	8.821e-05	0	0.0054	0.226	0.27544	T	0.21	0.26714	T	0.359	0.33845	B	0.167	0.35118	B	0.003071	0.35480	N	0.316091	0.966327	0.38523	D	2.48	0.72069	M	1.91	0.23283	T	-2.86	0.69357	D	0.451	0.48872	-1.0949	0.04766	T	0.064	0.26420	T	10	0.00920397	0.00208	T	0.003793	0.08837	T	0.103	0.29403	0.487	0.57098	0.388010793773	0.38412	0.6220853571130822	0.62141	0.0513548391877	0.05653	0.594027757645	0.52062	T	0.220027	0.58319	T	-0.433059	0.01421	T	-0.39013	0.34536	T	0.0509191339610452	0.05661	T	0.940606	0.77652	D	0.17091648	0.37694	0.19468963	0.43106	0.23772997	0.46641	0.18545908	0.41658	-2.741	0.07654	T	0.3955221800544413	0.48811	0.910	0.84796	P	.;.;.	.;.;.	3.950651	0.57877	23.9	0.99200277235031931	0.55261	0.95613	0.65424	D	AEFDBI	0.642267	0.61930	D	0.116930802553407	0.47253	2.953583	0.304037243311709	0.55775	3.740493	0.999999986294262	0.74766	0.651	0.46895	0	0.573888	0.26702	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	6.17	6.17	0.99707	6.921000	0.75625	7.708000	0.66649	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	15.805	0.78265	630	0.65016	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003030	0.000000	0.001362	0.000000	0.000000	0.000000	0.006135	0.007576	0.07143	543.49	33	chr4	15515909	.	T	C	543.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.241;DP=236;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=-0.061;SOR=0.646	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1183	6	0	1	0
chr4	15538112	15538112	G	C	exonic	CC2D2A	.	nonsynonymous SNV	CC2D2A:NM_001378617:exon14:c.G1831C:p.V611L,CC2D2A:NM_001378615:exon16:c.G1978C:p.V660L,CC2D2A:NM_001080522:exon17:c.G1978C:p.V660L	COACH syndrome, Autosomal recessive;Joubert syndrome 9, Autosomal recessive;Meckel syndrome 6, Autosomal recessive	1	1517	1	1	2	5	0.000987817	.	.	.	191879	not_specified|not_provided|Joubert_syndrome_9|Meckel_syndrome,_type_6|Joubert_syndrome|Meckel-Gruber_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012849,MedGen:C2676788,OMIM:612285,Orphanet:2318|MONDO:MONDO:0012848,MedGen:C2676790,OMIM:612284,Orphanet:564|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.068	0.0254604526921	.	0.000998403	0.0028	0.0009	0.0037	0	0	0.0036	0.0072	0.0024	0.0017011	263	154602	rs16892134	0.0024	0.0024	0.0024	0.0024	0.0027	0.0024	0.0023	0.0026	0.0025	0.0003	0.0021	0.0044	0	0.0002	0.0014	0.0027	0.0025	0.0024	0.0018	0.0018	0.0019	0.0016	0.0029	0.0016	0.0015	0.0022	0.0020	0.0005	0	0.0029	0.0035	0	0.0006	0.0034	0.0024	0.0033	0.0025	0.317	0.13699	T	0.015	0.61642	D	0.313	0.32852	B	0.086	0.29521	B	0.013546	0.28806	N	0.335075	0.878585	0.28088	N	1.87	0.49600	L	0.51	0.55439	T	-0.98	0.25986	N	0.179	0.21839	-1.0632	0.10974	T	0.116	0.41031	T	10	0.009012312	0.00204	T	0.02546	0.48428	D	0.068	0.19811	0.118	0.02577	0.258779203287	0.25495	0.2908641194678002	0.28999	0.0446928262617	0.04833	0.299244791269	0.10288	T	0.094777	0.39485	T	-0.482423	0.00716	T	-0.471291	0.25376	T	0.00513683513678708	0.00055	T	0.665033	0.27384	T	0.05216054	0.09688	0.039093945	0.03923	0.04578704	0.07554	0.047523953	0.06865	-3.234	0.12901	T	0.44525899496419497	0.53004	0.152	0.33573	B	.;.	.;.	0.494630	0.08640	5.408	0.32220745500506753	0.01856	0.25588	0.22743	N	AEFDBI	0.147234	0.27086	N	-1.11180617578989	0.06432	0.2960684	-1.14960869531114	0.06775	0.3272607	0.0482307118050536	0.14760	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.39	1.46	0.21769	0.309000	0.19094	1.730000	0.28322	-2.081000	0.00403	0.048000	0.21332	0.946000	0.28899	0.036000	0.13842	0.3857:0.1324:0.4818:0.0	5.663	0.16957	618	0.66225	CC2D2A, N-terminal, C2 domain;CC2D2A, N-terminal, C2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	548.53	19	chr4	15538112	.	G	C	548.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.31;DP=160;ExcessHet=0;FS=4.781;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-0.096;SOR=1.501	GT:AD:DP:GQ:PL	0/0:23,0:23:60:0,60,900	6	0	1	0
chr4	15984352	15984352	T	C	exonic	PROM1	.	nonsynonymous SNV	PROM1:NM_001145851:exon21:c.A2257G:p.S753G,PROM1:NM_001145847:exon22:c.A2257G:p.S753G,PROM1:NM_001145848:exon22:c.A2257G:p.S753G,PROM1:NM_001145849:exon22:c.A2284G:p.S762G,PROM1:NM_001145852:exon22:c.A2257G:p.S753G,PROM1:NM_001371406:exon22:c.A2257G:p.S753G,PROM1:NM_001371407:exon22:c.A2257G:p.S753G,PROM1:NM_001371408:exon22:c.A2257G:p.S753G,PROM1:NM_001145850:exon23:c.A2284G:p.S762G,PROM1:NM_006017:exon23:c.A2284G:p.S762G	Cone-rod dystrophy 12;Macular dystrophy, retinal, 2, Autosomal dominant;Retinitis pigmentosa 41, Autosomal recessive;Stargardt disease 4	.	.	.	.	.	.	.	.	.	.	294071	Retinal_macular_dystrophy_type_2|Cone-rod_dystrophy_12|Stargardt_disease_4|not_provided|Retinitis_pigmentosa	MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051,Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657,Orphanet:1872|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786,Orphanet:827|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.033	0.0118740450209	0.0005	0.000599042	0.0010	0	0.0007	0	0.0005	0.0008	0.0033	0.0030	0.0006404	99	154602	rs202029748	0.0007	0.0007	0.0006	0.0008	0.0020	0.0007	0.0007	0.0018	0.0017	6.08e-05	0.0004	0.0007	0	0.0006	0.0002	0.0007	0.0006	0.0020	0.0006	0.0006	0.0005	0.0007	0.0012	0.0005	0.0005	0.0007	0.0006	7.216e-05	0	0.0003	0.0012	0	0.0013	0	0.0009	0.0005	0.0012	0.026	0.46910	D	0.015	0.62352	D	0.389	0.34565	B	0.158	0.34617	B	0.009873	0.30165	N	0.391287	0.999968	0.18878	N	0.805	0.20218	L	0.89	0.45636	T	-2.38	0.52938	N	0.185	0.20129	-1.0695	0.09523	T	0.053	0.22307	T	9	0.011222929	0.00246	T	0.011874	0.29919	T	0.078	0.22779	.	.	0.504113619024	0.50048	0.23915140627187442	0.23829	0.0182130001652	0.01780	0.280690103769	0.07588	T	0.461159	0.79804	T	-0.515718	0.00466	T	-0.520834	0.20210	T	0.0232674592765771	0.01055	T	0.644036	0.25562	T	0.051832777	0.09579	0.042478435	0.05069	0.06086441	0.12538	0.062396742	0.12201	-6.821	0.53085	T	0.4098492939945429	0.50034	0.097	0.16187	B	.;.;.;.;.;.	.;.;.;.;.;.	1.945985	0.24719	16.50	0.87697580079166326	0.17415	0.65197	0.32657	D	AEFBI	0.128615	0.24646	N	-0.942390701573764	0.09864	0.4687736	-0.885978219950933	0.12425	0.6390868	0.815294255511409	0.24428	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	5.91	1.98	0.25351	0.592000	0.23685	0.257000	0.16498	-0.827000	0.02907	0.991000	0.37257	0.824000	0.27153	0.043000	0.14563	0.1246:0.1235:0.2592:0.4928	2.082	0.03415	900	0.24599	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	455.63	40	chr4	15984352	.	T	C	455.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.336;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-1.091;SOR=0.883	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1063	6	0	1	0
chr4	17614730	17614730	C	G	exonic	MED28	.	nonsynonymous SNV	MED28:NM_025205:exon1:c.C76G:p.Q26E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.00426679122943	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1279062630	2.052e-06	2.052e-06	4.084e-06	0	2.987e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	2.987e-05	0	0	0	0	0	1.799e-06	0	0	6.568e-06	6.566e-06	1.284e-05	0	2.411e-05	0	0	.	.	2.411e-05	0	0	0	0	0	0	0	0	0	0.103	0.30097	T	0.118	0.36233	T	0.293	0.32367	B	0.073	0.28123	B	0.000383	0.44960	D	0.234002	0.998313	0.44758	D	0.695	0.17993	N	.	.	.	-0.28	0.11547	N	0.426	0.46555	-0.9175	0.45891	T	0.147	0.47237	T	9	0.20749521	0.37047	T	0.004267	0.10341	T	0.403	0.71636	0.154	0.05752	0.583365392187	0.58009	0.5016197353025399	0.50083	0.0455934365918	0.04953	0.572593390942	0.49044	T	0.135661	0.46760	T	-0.139413	0.29985	T	-0.255886	0.49234	T	0.307227028215595	0.25300	T	0.611339	0.23205	T	0.18965839	0.40516	0.2346787	0.48691	0.18965839	0.40516	0.2346787	0.48690	-4.392	0.29448	T	.	.	0.110	0.21087	B	.	.	3.214292	0.43764	21.8	0.9885575395617	0.47373	0.94344	0.60866	D	ALL	0.760754	0.69868	D	0.153745788249462	0.48989	3.10449	0.327891262924901	0.57185	3.883391	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.46	5.46	0.80021	5.301000	0.65520	4.727000	0.44534	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	19.512	0.95141	664	0.61548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr4	17614730	.	C	G	33.22	.	AC=2;AF=0.143;AN=14;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1084	6	1	0	0
chr4	17708963	17708963	C	G	exonic	FAM184B	.	nonsynonymous SNV	FAM184B:NM_015688:exon2:c.G823C:p.D275H	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.0619822722143	0.0028	0.00119808	0.0020	0	0	0	0.0006	0.0031	0	0.0019	0.0011578	179	154602	rs61746992	0.0055	0.0052	0.0056	0.0053	0.0065	0.0054	0.0053	0.0064	0.0064	0.0006	0.0032	7.972e-05	2.798e-05	0.0006	0.0012	0.0065	0.0046	0.0021	0.0032	0.0032	0.0035	0.0029	0.0057	0.0030	0.0029	0.0053	0.0051	0.0009	0	0.0030	0	0	0.0008	0	0.0057	0.0014	0.0015	0.003	0.68238	D	0.012	0.63918	D	0.997	0.70673	D	0.988	0.77976	D	0.000283	0.46274	D	0.185429	0.999872	0.50225	D	2.535	0.73915	M	-1.12	0.77593	T	-4.07	0.74661	D	0.306	0.34552	0.231	0.86428	D	0.595	0.85534	D	10	0.010471642	0.00233	T	0.061982	0.68507	D	0.444	0.74657	.	.	0.349204839081	0.34528	0.32636864183420483	0.32549	.	.	0.579917430878	0.50074	T	0.273387	0.64582	T	-0.135875	0.30548	T	0.0414429	0.73022	D	0.0224460868422943	0.00959	T	0.805019	0.45286	T	0.67204344	0.76542	0.6060884	0.77100	0.67204344	0.76544	0.6060884	0.77101	-10.566	0.77225	D	.	.	0.626	0.69950	P	.	.	4.753106	0.76773	26.6	0.99523501741129838	0.69407	0.91498	0.53657	D	AEFDBI	0.388497	0.46808	N	0.685597694460493	0.78688	6.922407	0.664920780895457	0.79727	7.143662	0.997885199441137	0.36150	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.14	5.14	0.70008	6.775000	0.74812	7.654000	0.63860	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.791	0.91939	790	0.46189	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001852	0.000000	0.000000	0.000000	0.000000	0.000000	0.010000	0.007812	0.07143	1222.53	33	chr4	17708963	.	C	G	1222.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.32;DP=262;ExcessHet=0;FS=2.873;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-0.549;SOR=1.105	GT:AD:DP:GQ:PL	0/1:42,44:86:99:1233,0,999	6	0	1	0
chr4	17709587	17709587	G	A	exonic	FAM184B	.	nonsynonymous SNV	FAM184B:NM_015688:exon2:c.C199T:p.R67W	.	397	1103	20	2	0	24	0.0107623	.	.	.	2822455	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.373	0.179227908459	.	0.00259585	0.0052	0.0011	0.0036	0	0	0.0072	0	0.0051	0.0009573	148	154602	rs61746445	0.0027	0.0026	0.0026	0.0028	0.0117	0.0026	0.0026	0.0094	0.0085	0.0004	0.0010	0.0080	2.799e-05	0.0009	0.0117	0.0027	0.0039	0.0038	0.0020	0.0020	0.0020	0.0020	0.0041	0.0018	0.0018	0.0028	0.0027	0.0004	0	0.0016	0.0063	0	0.0006	0	0.0032	0.0014	0.0041	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.984	0.76113	D	0.000360	0.45440	D	0.163809	1	0.08975	N	2.22	0.62911	M	-1.15	0.77964	T	-5.0	0.82341	D	0.265	0.30004	-0.4580	0.70135	T	0.482	0.80215	T	10	0.006183207	0.00139	T	0.179228	0.85409	D	0.373	0.69188	.	.	0.361958692863	0.35806	0.41334810671549177	0.41250	.	.	0.477724611759	0.35743	T	0.340162	0.70922	T	-0.235981	0.15866	T	-0.112585	0.62404	T	0.0447716790519422	0.04561	T	0.872813	0.58002	D	0.339301	0.56224	0.37361875	0.62545	0.339301	0.56224	0.37361875	0.62545	-8.711	0.65818	D	.	.	0.126	0.26794	B	.	.	3.593035	0.50711	23.0	0.99873558175972643	0.95076	0.47163	0.27921	N	AEFDBCI	0.330195	0.43031	N	0.0438600788971241	0.43861	2.670819	-0.11204925906214	0.34903	2.013063	0.999834923307394	0.43792	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.32	1.08	0.19456	1.893000	0.39391	1.305000	0.25500	0.676000	0.76740	0.511000	0.27041	0.002000	0.18203	0.102000	0.18378	0.0826:0.0:0.2722:0.6452	8.699	0.33474	790	0.46189	Protein FAM184A/B, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009402	0.005618	0.012739	0.008000	0.000000	0.018519	0.009174	0.000000	0.07143	620.44	34	chr4	17709587	.	G	A	620.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.482;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=-0.517;SOR=0.644	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1094	6	0	1	0
chr4	18021686	18021686	-	GCGGCGGCGGCGGCG	exonic	LCORL	.	nonframeshift insertion	LCORL:NM_001166139:exon1:c.65_66insCGCCGCCGCCGCCGC:p.A22_Q23insAAAAA,LCORL:NM_001365660:exon1:c.65_66insCGCCGCCGCCGCCGC:p.A22_Q23insAAAAA,LCORL:NM_001365661:exon1:c.65_66insCGCCGCCGCCGCCGC:p.A22_Q23insAAAAA,LCORL:NM_001365662:exon1:c.65_66insCGCCGCCGCCGCCGC:p.A22_Q23insAAAAA,LCORL:NM_001365663:exon1:c.65_66insCGCCGCCGCCGCCGC:p.A22_Q23insAAAAA,LCORL:NM_001365665:exon1:c.65_66insCGCCGCCGCCGCCGC:p.A22_Q23insAAAAA,LCORL:NM_153686:exon1:c.65_66insCGCCGCCGCCGCCGC:p.A22_Q23insAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.812e-05	8.692e-05	8.279e-05	7.333e-05	9.604e-05	6.607e-05	6.14e-05	8.059e-05	7.526e-05	0	0	0	0	0	0	9.604e-05	8.742e-05	0	1.324e-05	1.317e-05	1.295e-05	1.354e-05	0.0002	2.2e-06	8.2e-07	.	.	2.427e-05	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	504.79	36	chr4	18021686	.	A	AGCGGCGGCGGCGGCG	504.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.729;DP=217;ExcessHet=0;FS=2.92;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-0.894;SOR=0.33	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,920:.	6	0	1	0
chr4	20850635	20850635	C	T	exonic	KCNIP4	.	nonsynonymous SNV	KCNIP4:NM_147181:exon1:c.G34A:p.V12I,KCNIP4:NM_001035003:exon2:c.G121A:p.V41I,KCNIP4:NM_001035004:exon2:c.G10A:p.V4I,KCNIP4:NM_001363504:exon2:c.G145A:p.V49I,KCNIP4:NM_025221:exon2:c.G136A:p.V46I,KCNIP4:NM_147183:exon2:c.G133A:p.V45I,KCNIP4:NM_147182:exon3:c.G10A:p.V4I	.	.	.	.	.	.	.	.	.	.	.	3687548	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.102	0.0207295599255	.	0.000399361	0.0002	9.707e-05	0.0005	0.0002	0	0.0001	0	0.0002	0.0001552	24	154602	rs201670726	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0002	0.0004	0.0001	7.573e-05	0	0	0.0002	0.0001	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0002	0.0001	0.0002	0	0.0004	0	0.0002	9.425e-05	0	0.0002	0.0009	0.0002	0.054	0.44358	T	0.327	0.38016	T	0.012	0.22806	B	0.005	0.12992	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.5	0.72771	M	-0.57	0.72011	T	-0.9	0.24244	N	0.276	0.35514	-0.6991	0.60481	T	0.286	0.65763	T	10	0.09835929	0.17778	T	0.02073	0.43381	T	0.102	0.29158	.	.	0.584346760627	0.58108	0.24815178257916218	0.24729	0.42410843782	0.42847	0.572387516499	0.49016	T	0.041912	0.26014	T	-0.174276	0.24590	T	-0.182135	0.56325	T	0.0992934162116979	0.12279	T	0.925707	0.79188	D	0.24686614	0.47659	0.18968864	0.42329	0.24686614	0.47659	0.18968864	0.42328	-4.276	0.56508	T	.	.	0.106	0.23675	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.216687	0.63743	24.6	0.99708533552739587	0.81143	0.97764	0.76963	D	AEFBI	0.809939	0.73331	D	0.106724553452293	0.46777	2.912873	0.282197604517835	0.54500	3.614796	0.999999816947159	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.42	5.42	0.78666	6.167000	0.71757	3.986000	0.40947	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.0:1.0:0.0:0.0	19.227	0.93807	920	0.19381	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001019	0.000000	0.000000	0.000000	0.000000	0.000000	0.003165	0.003817	0.07143	473.49	29	chr4	20850635	.	C	T	473.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.2;DP=212;ExcessHet=0;FS=1.076;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.11;ReadPosRankSum=3.09;SOR=0.927	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1218	6	0	1	0
chr4	30723650	30723650	C	T	exonic	PCDH7	.	nonsynonymous SNV	PCDH7:NM_001173523:exon1:c.C2228T:p.T743I,PCDH7:NM_002589:exon1:c.C2228T:p.T743I,PCDH7:NM_032456:exon1:c.C2228T:p.T743I,PCDH7:NM_032457:exon1:c.C2228T:p.T743I	.	426	1050	46	0	0	46	0.0214352	.	.	.	720948	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.108	.	0.0038	0.00299521	0.0054	0.0005	0.0037	0.0001	0.0005	0.0064	0.0044	0.0104	0.0051164	791	154602	rs36037995	0.0049	0.0049	0.0046	0.0052	0.0154	0.0048	0.0048	0.0128	0.0119	0.0010	0.0043	0.0010	0	0.0005	0.0154	0.0050	0.0052	0.0111	0.0037	0.0037	0.0036	0.0037	0.0112	0.0034	0.0033	0.0088	0.0080	0.0007	0.0208	0.0042	0.0014	0	0.0007	0.0238	0.0054	0.0033	0.0112	0.509	0.07521	T	0.012	0.63918	D	0.148	0.27908	B	0.081	0.28987	B	.	.	.	.	0.991965	0.41520	D	0.665	0.16292	N	0.11	0.61208	T	-2.37	0.56466	N	0.521	0.55540	-0.9534	0.40380	T	0.096	0.36185	T	9	0.007612586	0.00173	T	.	.	.	0.108	0.30607	.	.	0.520749599713	0.51718	0.44365542690440946	0.44283	.	.	0.576002418995	0.49523	T	0.041905	0.26010	T	-0.368356	0.03678	T	-0.291507	0.45616	T	0.0231255427321217	0.01038	T	0.892111	0.62800	D	0.16803898	0.37236	0.19054726	0.42463	0.16803898	0.37236	0.19054726	0.42462	-3.805	0.20879	T	.	.	0.092	0.13690	B	.;.	.;.	3.172780	0.43032	21.7	0.98209840800058557	0.39202	0.82364	0.41602	D	AEFDGBCI	0.283118	0.39630	N	0.0556540463801679	0.44403	2.715013	0.208126574651296	0.50297	3.223326	0.999999979181137	0.74766	0.676563	0.55306	0	0.59043	0.45803	0	0.673471	0.61138	0	0.657601	0.63696	0	.	.	5.04	5.04	0.67293	1.751000	0.37967	1.742000	0.28408	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8509:0.1491:0.0	14.228	0.65415	484	0.77165	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013595	0.005051	0.010870	0.002924	0.000000	0.008621	0.036585	0.007576	0.07143	3463.44	34	chr4	30723650	.	C	T	3463.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.193;DP=497;ExcessHet=0;FS=6.808;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-0.128;SOR=0.442	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,887	6	0	1	0
chr4	38797505	38797505	A	T	exonic	TLR1	.	nonsynonymous SNV	TLR1:NM_003263:exon4:c.T1327A:p.L443I	.	.	.	.	.	.	.	.	.	.	.	3211944	TLR1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.062	0.0101568196347	7.7e-05	.	0.0002	9.843e-05	0.0004	0	0	0.0003	0	0	0.000194	30	154602	rs199899599	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	0.0002	0.0003	0.0027	0	0	0.0014	0.0002	0.0005	2.319e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	7.218e-05	0	0.0004	0.0035	0	0	0.0034	0.0001	0.0005	0	0.002	0.72154	D	0.081	0.41742	T	0.717	0.42239	P	0.45	0.46092	P	0.000237	0.47286	D	0.000000	0.998794	0.45457	D	2.23	0.63091	M	1.65	0.27650	T	-1.85	0.43334	N	0.302	0.34120	-1.1051	0.03527	T	0.065	0.26948	T	10	0.042436093	0.02992	T	0.010157	0.26368	T	0.062	0.17934	.	.	0.353336612579	0.34937	0.08303136438479432	0.08238	0.104681082097	0.11842	0.47429934144	0.35273	T	0.17305	0.52177	T	-0.323166	0.06642	T	-0.396005	0.33850	T	0.107364311814308	0.13148	T	0.711229	0.32236	T	0.3371501	0.56052	0.16466756	0.38134	0.3371501	0.56052	0.16466756	0.38133	-5.759	0.44215	T	.	.	0.116	0.23535	B	.;.	.;.	3.032030	0.40618	21.2	0.99056316372079922	0.51367	0.94133	0.60212	D	AEFDGBI	0.539587	0.55650	D	0.0185946775842677	0.42700	2.577821	0.017131926333151	0.40511	2.418807	0.995969194962237	0.34438	0.732398	0.92422	0	0.743671	0.97443	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	4.86	1.0	0.18999	2.555000	0.45515	1.682000	0.28018	0.756000	0.94297	1.000000	0.71638	0.901000	0.27973	0.987000	0.62547	0.7268:0.0:0.1441:0.1291	5.441	0.15804	645	0.63593	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.009511	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1812.44	39	chr4	38797505	.	A	T	1812.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.984;DP=399;ExcessHet=0;FS=8.428;MLEAC=1;MLEAF=0.071;MQ=58.1;MQRankSum=1.58;QD=17.94;ReadPosRankSum=-0.699;SOR=0.253	GT:AD:DP:GQ:PL	0/0:82,0:82:99:0,120,1800	6	0	1	0
chr4	38798741	38798741	T	C	exonic	TLR1	.	nonsynonymous SNV	TLR1:NM_003263:exon4:c.A91G:p.R31G	.	426	1090	5	1	0	7	0.00320073	.	.	.	3209040	TLR1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.169	0.0417602791577	7.7e-05	0.000998403	0.0005	0	0	0.0046	0	0.0003	0	6.067e-05	0.0004463	69	154602	rs140255888	0.0004	0.0004	0.0004	0.0004	0.0109	0.0004	0.0004	0.0101	0.0097	5.978e-05	0	0.0005	0.0109	0	0.0004	0.0001	0.0003	2.324e-05	0.0002	0.0002	0.0002	0.0002	0.0042	0.0002	0.0001	0.0029	0.0024	0	0	6.536e-05	0.0006	0.0042	0	0	0.0001	0	0	0.281	0.56456	T	0.298	0.20486	T	0.271	0.31796	B	0.171	0.35348	B	0.066963	0.21774	N	0.428037	0.982389	0.24968	N	1.87	0.49600	L	2.25	0.83327	T	-1.75	0.73267	N	0.442	0.48042	-0.6289	0.63618	T	0.351	0.71518	T	10	0.009595305	0.00216	T	0.04176	0.60099	D	0.169	0.43123	.	.	0.902336399442	0.90136	0.31238352286913	0.31151	0.155369030268	0.17535	0.258327484131	0.04694	T	0.109141	0.42277	T	-0.255218	0.13465	T	-0.139661	0.60148	T	0.0339793185498645	0.02635	T	0.829117	0.66280	T	0.15525512	0.35098	0.0790415	0.17760	0.15525512	0.35098	0.0790415	0.17759	-4.882	0.35532	T	.	.	0.129	0.51209	B	.;.;.;.;.	.;.;.;.;.	2.282227	0.29185	18.04	0.99413387873559123	0.63405	0.89748	0.50414	D	AEFGBI	0.532417	0.55229	D	-0.0147123441614627	0.41189	2.459331	0.0612013418171413	0.42617	2.580803	0.999944384333663	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.2	3.94	0.44807	2.629000	0.46152	3.560000	0.39084	0.665000	0.62972	0.716000	0.28781	0.966000	0.29516	0.714000	0.34579	0.2603:0.0:0.0:0.7397	8.223	0.30714	624	0.65661	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	615.44	81	chr4	38798741	.	T	C	615.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.64;DP=288;ExcessHet=0;FS=0.882;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.6;ReadPosRankSum=-0.566;SOR=0.701	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	6	0	1	0
chr4	41631155	41631155	G	A	exonic	LIMCH1	.	nonsynonymous SNV	LIMCH1:NM_001330672:exon10:c.G1279A:p.D427N	.	438	1070	13	1	0	15	0.00696056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.04157304898	.	0.00219649	0.0051	0	0	0	0.0060	0.0067	0	0.0053	0.0011319	175	154602	rs185882675	0.0056	0.0053	0.0057	0.0055	0.0065	0.0055	0.0055	0.0064	0.0063	0.0007	0.0023	0.0032	2.805e-05	0.0048	0.0020	0.0065	0.0042	0.0021	0.0034	0.0034	0.0036	0.0032	0.0055	0.0032	0.0031	0.0051	0.0049	0.0009	0	0.0015	0.0049	0	0.0045	0	0.0055	0.0038	0.0017	0.0	0.91255	D	0.12	0.35970	T	0.879	0.48338	P	0.426	0.45295	B	0.822436	0.09168	N	0.910059	1	0.81001	D	.	.	.	0.83	0.47815	T	-1.02	0.26843	N	0.266	0.30118	-0.9015	0.47835	T	0.123	0.42610	T	9	0.0048156083	0.00102	T	0.041573	0.60002	D	0.123	0.34020	.	.	0.257342827899	0.25358	0.03345233526861353	0.03293	.	.	0.375064760447	0.21555	T	0.01545	0.12960	T	-0.5189	0.00447	T	-0.514415	0.20862	T	0.0587949698684455	0.06977	T	0.789521	0.42989	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.08997	B	.	.	3.343846	0.46092	22.2	0.99210618779288573	0.55563	0.94231	0.60513	D	AEFBI	0.277968	0.39236	N	0.068159345096049	0.44980	2.76248	0.0162498780136713	0.40468	2.415647	0.999969413883925	0.48965	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.3	4.43	0.52967	3.005000	0.49208	7.251000	0.57930	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.133000	0.19684	0.0:0.1481:0.8519:0.0	14.302	0.65909	851	0.35303	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	587.83	30	chr4	41631155	.	G	A	587.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.708;DP=193;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.59;ReadPosRankSum=0.286;SOR=0.582	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1329	6	0	1	0
chr4	42549031	42549031	T	C	exonic	ATP8A1	.	nonsynonymous SNV	ATP8A1:NM_001105529:exon18:c.A1589G:p.N530S,ATP8A1:NM_006095:exon19:c.A1634G:p.N545S	.	442	1074	6	0	0	6	0.00278552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.0332841137291	0.0045	0.00219649	0.0038	0.0011	0.0019	0	0.0029	0.0058	0.0033	0.0011	0.0038163	590	154602	rs34999127	0.0045	0.0046	0.0046	0.0045	0.0053	0.0044	0.0044	0.0052	0.0051	0.0008	0.0022	0.0039	0	0.0036	0.0033	0.0053	0.0037	0.0010	0.0033	0.0033	0.0037	0.0029	0.0056	0.0031	0.0030	0.0051	0.0050	0.0011	0	0.0022	0.0040	0	0.0018	0	0.0056	0.0038	0.0008	0.046	0.40573	D	0.051	0.48080	T	0.4	0.34852	B	0.305	0.41207	B	0.000001	0.62929	D	0.057093	0.999193	0.46300	D	2.055	0.56616	M	0.02	0.62318	T	-3.77	0.71397	D	0.606	0.62357	-0.6613	0.62219	T	0.220	0.58266	T	10	0.013582081	0.00288	T	0.033284	0.54875	D	0.249	0.55752	.	.	0.623952222724	0.62088	0.38185751039031435	0.38100	0.49660854432	0.48164	0.678872168064	0.64106	T	0.54653	0.84568	D	-0.513991	0.00476	T	-0.50455	0.21877	T	0.088663059494386	0.11058	T	0.975502	0.91380	D	0.26401547	0.49467	0.17372759	0.39720	0.26401547	0.49467	0.17372759	0.39719	-6.044	0.46646	T	.	.	0.068	0.02927	B	.;.	.;.	3.318688	0.45634	22.2	0.99444608305675963	0.64971	0.97542	0.75430	D	AEFBI	0.791075	0.71977	D	0.144517723449044	0.48554	3.066147	0.225482375466553	0.51264	3.310593	0.0699294393298245	0.15506	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.32	4.14	0.47821	6.548000	0.73797	4.232000	0.42657	-0.162000	0.11565	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0806:0.0:0.9194	9.999	0.41087	704	0.57414	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	477.46	31	chr4	42549031	.	T	C	477.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.777;DP=217;ExcessHet=0;FS=3.794;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.68;ReadPosRankSum=1.47;SOR=1.246	GT:AD:DP:GQ:PL	0/1:33,22:55:99:488,0,747	6	0	1	0
chr4	44688026	44688026	T	C	exonic	GUF1	.	nonsynonymous SNV	GUF1:NM_001345868:exon9:c.T958C:p.Y320H,GUF1:NM_021927:exon9:c.T958C:p.Y320H	.	.	.	.	.	.	.	.	.	.	.	2228844	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.635	0.0688955163547	.	.	8.255e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs749034939	6.85e-06	6.84e-06	4.089e-06	9.638e-06	2.239e-05	3.46e-06	2.53e-06	3.81e-06	2.76e-06	0	2.239e-05	0	0	0	0	8.104e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.997	0.70673	D	0.948	0.68536	D	0.000001	0.62929	D	0.059384	0.999999	0.58761	D	4.375	0.98560	H	-0.05	0.63403	T	-3.85	0.72353	D	0.748	0.74735	0.352	0.88370	D	0.545	0.83256	D	10	0.8813354	0.87445	D	0.068896	0.70578	D	0.635	0.86027	0.653	0.79068	0.630240563733	0.62722	0.7400599778126601	0.73950	0.406224518913	0.41498	0.809667289257	0.83441	D	0.500173	0.82088	D	0.243287	0.77971	D	0.111688	0.77684	D	0.997653305530548	0.92088	D	0.982502	0.94093	D	0.9617003	0.97451	0.9220057	0.96539	0.9617003	0.97451	0.9220057	0.96539	-12.357	0.86546	D	0.7262545445240607	0.80768	0.724	0.73971	P	.	.	5.085082	0.84888	28.4	0.99824726359155314	0.90677	0.98671	0.85391	D	AEFBI	0.868756	0.78901	D	0.929081174654271	0.93110	11.82751	0.857684582155401	0.93457	12.05524	0.999999999987952	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	7.663000	0.82798	7.883000	0.72619	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.936	0.70608	612	0.66786	Translation elongation factor EFTu-like, domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	706.83	27	chr4	44688026	.	T	C	706.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.753;DP=208;ExcessHet=0;FS=1.116;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=-0.03;SOR=0.48	GT:AD:DP:GQ:PL	0/1:20,30:50:99:717,0,486	6	0	1	0
chr4	47896558	47896558	G	A	exonic	NFXL1	.	nonsynonymous SNV	NFXL1:NM_001278623:exon10:c.C1294T:p.R432C,NFXL1:NM_001278624:exon10:c.C1294T:p.R432C,NFXL1:NM_152995:exon10:c.C1294T:p.R432C	.	430	1084	8	0	0	8	0.00367647	.	.	.	3199169	NFXL1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.368	0.0972091449998	0.0035	0.000199681	0.0025	0.0006	0.0011	0	0.0009	0.0042	0	0.0002	0.0024126	373	154602	rs35139099	0.0034	0.0034	0.0035	0.0033	0.0042	0.0033	0.0033	0.0041	0.0040	0.0004	0.0017	0.0004	0	0.0008	0.0017	0.0042	0.0028	0.0004	0.0023	0.0023	0.0026	0.0020	0.0040	0.0021	0.0020	0.0036	0.0035	0.0005	0	0.0021	0.0006	0	0.0013	0	0.0040	0.0024	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.185	0.88900	M	0.14	0.60854	T	-6.76	0.93509	D	0.865	0.86191	-0.2152	0.77279	T	0.335	0.70207	T	10	0.07701364	0.12103	T	0.097209	0.76734	D	0.368	0.68757	.	.	0.962926417621	0.96253	0.5571280347882771	0.55639	1.20430854673	0.80639	0.770583868027	0.77513	T	0.102055	0.40942	T	-0.113301	0.34225	T	0.0643299	0.74532	D	0.0961802798851535	0.11931	T	0.976302	0.91743	D	0.7472992	0.80711	0.6190657	0.77815	0.7472992	0.80713	0.6190657	0.77816	-11.47	0.82173	D	.	.	0.688	0.77353	P	.;.;.	.;.;.	5.864635	0.93869	33	0.99933035821039484	0.99488	0.93910	0.59546	D	AEFBI	0.463620	0.51246	N	0.774008674939467	0.84455	8.293078	0.692239276961129	0.81789	7.60954	0.0456698043794123	0.14661	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.07	4.22	0.49153	4.196000	0.58203	9.995000	0.83008	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.077:0.0:0.7776:0.1455	8.875	0.34495	373	0.84140	Zinc finger, NF-X1-type|Zinc finger, NF-X1-type;Zinc finger, NF-X1-type|Zinc finger, NF-X1-type;Zinc finger, NF-X1-type|Zinc finger, NF-X1-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.07143	313.45	33	chr4	47896558	.	G	A	313.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.571;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.404;SOR=0.511	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1074	6	0	1	0
chr4	52744475	52744475	G	A	exonic	ERVMER34-1	.	nonsynonymous SNV	ERVMER34-1:NM_001242690:exon3:c.C1046T:p.P349L,ERVMER34-1:NM_024534:exon4:c.C1046T:p.P349L	.	436	1068	18	0	0	18	0.00835655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.00279553	0.0073	0	0	0	0	0.0016	0	0.0154	0.0010414	161	154602	rs61731316	0.0024	0.0021	0.0015	0.0031	0.0145	0.0023	0.0022	0.0137	0.0134	0.0009	0.0006	0.0003	0.0003	2.88e-05	0.0093	0.0008	0.0015	0.0145	0.0012	0.0012	0.0010	0.0014	0.0141	0.0010	0.0010	0.0114	0.0104	0.0007	0	0.0013	0.0006	0.0002	0	0.0136	0.0007	0.0019	0.0141	.	.	.	.	.	.	1.0	0.90584	D	0.847	0.60522	P	.	.	.	.	1	0.08975	N	0.55	0.14455	N	.	.	.	.	.	.	0.165	0.17416	.	.	.	.	.	.	.	0.0043275952	0.00087	T	.	.	.	.	.	.	.	0.226586394389	0.22295	0.6840778170310404	0.68346	.	.	0.371060222387	0.20984	T	0.044	0.26679	T	-0.477372	0.00766	T	-0.446164	0.28122	T	.	.	.	0.452755	0.12846	T	0.06836084	0.14886	0.12267277	0.29588	0.06836084	0.14886	0.12267277	0.29588	-2.808	0.08257	T	.	.	0.173	0.37988	B	.;.	.;.	1.605479	0.20521	14.79	0.97291330544509647	0.33233	0.02847	0.07602	N	AEFBI	0.045237	0.07376	N	.	.	.	.	.	.	3.61416429861089E-4	0.06707	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.530356	0.10902	0	.	.	1.69	1.69	0.23290	1.663000	0.37045	0.246000	0.16368	0.509000	0.23192	0.024000	0.20007	0.000000	0.08366	0.018000	0.11154	0.0:0.0:1.0:0.0	6.845	0.23167	333	0.86326	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007937	0.000000	0.000000	0.000000	0.000000	0.000000	0.007143	0.026316	0.07143	996.46	34	chr4	52744475	.	G	A	996.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.67;DP=293;ExcessHet=0;FS=0.855;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=2.72;SOR=0.907	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1109	6	0	1	0
chr4	53507464	53507464	G	C	exonic	LNX1	.	nonsynonymous SNV	LNX1:NM_032622:exon3:c.C340G:p.P114A,LNX1:NM_001126328:exon4:c.C628G:p.P210A	.	430	1091	0	1	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.010002431968	.	.	4.964e-05	0	0	0	0	1.502e-05	0.0011	0.0002	3.88e-05	6	154602	rs756281682	2.326e-05	2.326e-05	1.361e-05	3.3e-05	0.0005	1.674e-05	1.477e-05	0.0002	0.0001	0	0	0	0	0	0.0005	7.195e-06	1.656e-05	0.0003	3.284e-05	3.281e-05	5.141e-05	1.343e-05	0.0004	1.261e-05	7.98e-06	7.296e-05	3.031e-05	0	0	0	0	0	0	0.0034	2.941e-05	0	0.0004	0.049	0.39820	D	0.545	0.09829	T	0.332	0.42845	B	0.158	0.34617	B	0.000004	0.62929	D	0.102727	1	0.81001	D	1.15	0.29295	L	3.24	0.06845	T	-0.78	0.25118	N	0.328	0.36884	-1.0622	0.11215	T	0.015	0.06138	T	10	0.15161094	0.28653	T	0.010002	0.26012	T	0.107	0.30369	0.322	0.30226	0.382925413656	0.37900	0.29306679643020633	0.29219	0.0768060771228	0.08626	0.366652280092	0.20351	T	0.129716	0.45817	T	-0.426341	0.01560	T	-0.549862	0.17339	T	0.0911523112268826	0.11354	T	0.738626	0.35686	T	0.10516135	0.24863	0.114139095	0.27549	0.10516135	0.24863	0.114139095	0.27548	-2.988	0.10052	T	.	.	0.076	0.09772	B	.;.	.;.	2.458616	0.31669	18.81	0.68265240189181875	0.08605	0.95303	0.64198	D	AEFBI	0.691836	0.65170	D	0.0188276225465482	0.42712	2.578668	0.114314496651451	0.45280	2.793981	0.999999580746919	0.74766	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.444512	0.06955	0	.	.	4.9	4.9	0.63643	5.327000	0.65659	4.286000	0.42896	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.095000	0.18041	0.0:0.0:0.8415:0.1585	13.261	0.59535	453	0.79178	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	568.83	24	chr4	53507464	.	G	C	568.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.13;DP=181;ExcessHet=0;FS=1.708;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.61;ReadPosRankSum=-0.92;SOR=0.358	GT:AD:DP:GQ:PL	0/0:31,0:31:81:0,81,1215	6	0	1	0
chr4	54273707	54273707	G	A	exonic	PDGFRA	.	nonsynonymous SNV	PDGFRA:NM_001347827:exon10:c.G1535A:p.R512Q,PDGFRA:NM_001347829:exon10:c.G1535A:p.R512Q,PDGFRA:NM_001347830:exon10:c.G1574A:p.R525Q,PDGFRA:NM_006206:exon10:c.G1535A:p.R512Q,PDGFRA:NM_001347828:exon11:c.G1610A:p.R537Q	Gastrointestinal stromal tumor, somatic;Hypereosinophilic syndrome, idiopathic, resistant to imatinib, Isolated cases, Somatic mutation	.	.	.	.	.	.	.	.	.	.	632310	not_provided|Hereditary_cancer-predisposing_syndrome|Gastrointestinal_stromal_tumor	MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.363	0.0262489266991	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1174017872	2.737e-06	2.736e-06	1.362e-06	4.127e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.432	0.09486	T	0.21	0.26714	T	1.0	0.90584	D	0.997	0.86255	D	0.019672	0.27206	U	0.000000	1	0.81001	D	1.57	0.39626	L	-0.92	0.75108	T	-1.22	0.30964	N	0.83	0.82559	-0.3580	0.73322	T	0.503	0.81242	D	10	0.750056	0.75570	D	0.026249	0.49171	D	0.363	0.68319	0.462	0.53079	0.850040274385	0.84859	0.8632161154814713	0.86285	1.15290462371	0.79275	0.525706887245	0.42430	T	0.113067	0.42983	T	0.138922	0.68223	D	-0.0382248	0.67821	D	0.984750747680664	0.75960	D	0.89611	0.63771	D	0.09509913	0.22375	0.10753294	0.25889	0.09509913	0.22375	0.10753294	0.25889	-6.197	0.47898	T	.	.	0.115	0.23041	B	.	.	4.648335	0.74066	26.1	0.99929089474907162	0.99279	0.99274	0.93794	D	AEFBI	0.935730	0.93103	D	0.585147377980617	0.72247	5.775789	0.618766619478623	0.76301	6.466231	0.999999999999971	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.9	5.9	0.94952	8.783000	0.91453	8.549000	0.77521	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.711000	0.34484	0.0:0.0:1.0:0.0	20.279	0.98503	441	0.80015	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	593.83	25	chr4	54273707	.	G	A	593.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.24;DP=188;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=0.438;SOR=0.73	GT:AD:DP:GQ:PL	0/1:17,23:40:99:604,0,381	6	0	1	0
chr4	55101941	55101941	C	T	exonic	KDR	.	nonsynonymous SNV	KDR:NM_002253:exon15:c.G2222A:p.S741N	Hemangioma, capillary infantile, somatic	0	1514	7	1	0	9	0.00296345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.0381411420151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.000121	0.49741	N	0.230117	0.836523	0.28689	N	-1.965	0.00208	N	-0.86	0.74477	T	4.07	0.00052	N	0.206	0.22870	-0.8850	0.49357	T	0.070	0.28412	T	10	0.08826959	0.15181	T	0.038141	0.58041	D	0.171	0.43483	0.68	0.81788	0.043077524339	0.03247	0.7155449750555612	0.71497	0.147127309729	0.16595	0.334765821695	0.15653	T	0.094405	0.39410	T	-0.18677	0.22734	T	-0.506058	0.21721	T	0.0584047250449657	0.06915	T	0.752425	0.37456	T	0.02658672	0.01734	0.0657633	0.13376	0.02658672	0.01734	0.0657633	0.13376	0.133	0.00305	T	.	.	0.109	0.20972	B	.;.	.;.	0.824769	0.11960	8.521	0.18009247238676659	0.00548	0.30738	0.24159	N	AEFBI	0.078560	0.15853	N	-1.18537009186819	0.05221	0.2374922	-0.956301716292627	0.10777	0.5449898	0.0912405075838899	0.16129	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.97	-0.268	0.12295	2.855000	0.48032	0.452000	0.18532	-0.186000	0.09761	1.000000	0.71638	0.093000	0.22564	0.776000	0.36750	0.0:0.1541:0.0:0.8459	11.622	0.50382	708	0.56926	Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	730.45	63	chr4	55101941	.	C	T	730.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.137;DP=262;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-0.461;SOR=0.617	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	6	0	1	0
chr4	55105862	55105862	C	T	exonic	KDR	.	nonsynonymous SNV	KDR:NM_002253:exon12:c.G1615A:p.G539R	Hemangioma, capillary infantile, somatic	0	1517	5	0	0	5	0.00164528	.	.	.	138344	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.027	0.0102342181194	0.0016	0.000399361	0.0016	0.0003	0.0006	0	0.0002	0.0027	0.0011	0.0002	0.0015977	247	154602	rs55716939	0.0026	0.0027	0.0027	0.0026	0.0035	0.0026	0.0025	0.0031	0.0031	0.0005	0.0008	0.0003	0	0.0004	0.0035	0.0032	0.0030	0.0004	0.0015	0.0015	0.0017	0.0014	0.0029	0.0014	0.0013	0.0025	0.0024	0.0005	0	0.0009	0.0006	0	9.413e-05	0.0034	0.0029	0	0.0006	0.071	0.35165	T	0.19	0.28482	T	0.001	0.07471	B	0.021	0.19346	B	0.000157	0.49130	D	0.177064	0.65807	0.33026	D	2.25	0.63811	M	2.33	0.16492	T	-1.45	0.35597	N	0.325	0.36569	-1.0681	0.09836	T	0.035	0.14857	T	10	0.013275832	0.00282	T	0.010234	0.26522	T	0.027	0.05988	0.402	0.43245	0.0675242888579	0.06100	0.634589841994731	0.63392	0.213140638837	0.23823	0.394965738058	0.24367	T	0.097027	0.39943	T	-0.46025	0.00980	T	-0.435049	0.29363	T	0.0200182546383785	0.00703	T	0.876612	0.58915	D	0.3399509	0.56276	0.17928475	0.40652	0.29138824	0.52121	0.17396028	0.39757	-4.263	0.27655	T	.	.	0.276	0.50916	B	.;.	.;.	3.396920	0.47056	22.4	0.99696147715270844	0.80316	0.90752	0.52194	D	AEFBI	0.451862	0.50566	N	-0.100729818941264	0.37361	2.172521	0.0730026163629834	0.43198	2.626442	0.997466136739452	0.35646	0.722319	0.85440	0	0.573888	0.26702	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.52	4.49	0.54177	3.160000	0.50438	2.725000	0.34343	0.599000	0.40250	0.994000	0.38300	0.996000	0.32793	0.964000	0.52637	0.0:0.8751:0.0:0.1249	12.998	0.58061	715	0.56137	Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.005435	0.005848	0.000000	0.000000	0.003049	0.000000	0.1429	3166.24	40	chr4	55105862	.	C	T	3166.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.04;DP=475;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=0.915;SOR=0.718	GT:AD:DP:GQ:PL	0/1:89,63:152:99:1496,0,2149	5	0	2	0
chr4	56314386	56314386	T	C	exonic	CRACD	.	nonsynonymous SNV	CRACD:NM_020722:exon8:c.T884C:p.L295P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00537961878377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.01e-07	2.898e-06	0	1.624e-06	1.043e-06	0	0	.	.	0	0	0	0	0	0	1.043e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.261	0.23029	T	0.002	0.09854	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	1.15	0.29295	L	2.52	0.14160	T	-0.36	0.13035	N	0.06	0.03841	-0.9592	0.39330	T	0.020	0.08313	T	9	0.067932814	0.09535	T	0.00538	0.13801	T	0.004	0.00165	0.194	0.10571	0.0482279557977	0.04254	0.040377568163659824	0.03983	0.442455837758	0.44211	0.244721382856	0.03232	T	0.001679	0.11972	T	-0.382071	0.03023	T	-0.786595	0.02260	T	0.0541680688271541	0.06218	T	0.260274	0.04709	T	0.087290384	0.20320	0.11823147	0.28541	0.087290384	0.20320	0.11823147	0.28541	-4.077	0.24950	T	.	.	0.056	0.01645	B	.;.;.;.;.	.;.;.;.;.	0.335975	0.07097	3.671	0.46168651936796151	0.03678	0.22403	0.21734	N	AEFDBCI	0.442964	0.50047	N	-1.38949235418558	0.02736	0.1212332	-1.45432072550453	0.02731	0.126155	0.999989157447609	0.51787	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.09	-4.88	0.02884	-1.143000	0.03311	-1.178000	0.06105	-0.197000	0.09056	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.0:0.2084:0.4698:0.3218	7.993	0.29415	283	0.88803	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	116.63	12	chr4	56314386	.	T	C	116.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.262;DP=134;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-0.819;SOR=0.368	GT:AD:DP:GQ:PL	0/0:33,0:33:90:0,90,1350	6	0	1	0
chr4	67514649	67514649	G	A	exonic	CENPC	.	nonsynonymous SNV	CENPC:NM_001362481:exon8:c.C869T:p.S290L,CENPC:NM_001812:exon8:c.C869T:p.S290L	.	1	224	1	0	0	1	0.00222717	.	.	.	2336573	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.012	0.00100786069151	8.3e-05	.	5.648e-05	0.0001	0.0003	0.0002	0	2.023e-05	0	0	4.53e-05	7	154602	rs369416101	7.828e-05	8.003e-05	7.1e-05	8.565e-05	0.0004	6.625e-05	6.166e-05	7.149e-05	6.64e-05	2.995e-05	9.051e-05	0	2.535e-05	3.764e-05	0.0004	8.561e-05	0.0001	2.348e-05	0.0001	0.0001	0.0001	6.728e-05	0.0004	6.513e-05	5.324e-05	6.808e-05	3.339e-05	9.654e-05	0	0.0001	0	0.0004	9.436e-05	0	0.0001	0	0	0.437	0.09346	T	0.094	0.39645	T	0.005	0.12996	B	0.002	0.06944	B	0.434884	0.12702	N	0.705549	1	0.08975	N	0.58	0.15352	N	.	.	.	-1.02	0.26843	N	0.105	0.08925	-1.0173	0.24592	T	0.041	0.17700	T	9	0.045089662	0.03539	T	0.001008	0.01096	T	0.012	0.01476	.	.	0.412587454835	0.40873	0.05517231378690145	0.05458	0.0390815817227	0.04159	0.331840604544	0.15213	T	0.085083	0.37422	T	-0.321057	0.06812	T	-0.500635	0.22282	T	0.0213777383042726	0.00840	T	0.761624	0.38671	T	0.020068694	0.00553	0.024992708	0.00530	0.020068694	0.00553	0.024992708	0.00530	-3.913	0.22497	T	.	.	0.065	0.01834	B	.	.	0.922140	0.12971	9.477	0.98340829646273364	0.40438	0.04285	0.09826	N	AEFBI	0.028346	0.02480	N	-1.1803190396346	0.05298	0.24118	-1.1614066237115	0.06565	0.3164352	0.00231480598232289	0.09317	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.71	1.71	0.23429	0.746000	0.25942	2.420000	0.32683	-0.174000	0.10959	0.004000	0.16614	0.997000	0.33255	0.006000	0.07323	0.3924:0.0:0.6076:0.0	6.013	0.18814	917	0.20147	Kinetochore assembly subunit CENP-C, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001523	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	205.83	16	chr4	67514649	.	G	A	205.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.344;DP=170;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.361;SOR=1.085	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	6	0	1	0
chr4	67946524	67946524	A	G	exonic	TMPRSS11A	.	nonsynonymous SNV	TMPRSS11A:NM_001114387:exon2:c.T59C:p.I20T,TMPRSS11A:NM_182606:exon2:c.T59C:p.I20T	.	424	1096	2	0	0	2	0.000911577	.	.	.	4085437	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.123	0.0241926162488	.	.	3.3e-05	0	8.675e-05	0	0	0	0	0.0002	2.59e-05	4	154602	rs756138747	2.465e-05	2.463e-05	1.771e-05	3.166e-05	0.0001	1.805e-05	1.602e-05	7.143e-05	5.496e-05	0	6.745e-05	0	0.0001	0	0	1.44e-05	3.315e-05	0.0001	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	7.299e-05	3.032e-05	0	0	0	0	0	0	0	0	0	0.0004	0.067	0.35918	T	0.169	0.31125	T	.	.	.	.	.	.	0.150002	0.17999	N	0.499327	1	0.08975	N	.	.	.	-2.74	0.91192	D	-3.51	0.72120	D	0.198	0.22998	-0.3644	0.73132	T	0.564	0.84161	D	10	0.10396984	0.19143	T	0.024193	0.47175	T	0.123	0.34020	0.376	0.38994	0.564243864375	0.56087	0.6790529180367584	0.67844	0.133513353763	0.15033	0.431710988283	0.29442	T	.	.	.	-0.150127	0.28291	T	-0.249824	0.49833	T	0.0547907027426142	0.06323	T	0.49745	0.17034	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.03552	B	.;.;.	.;.;.	0.782334	0.11523	8.123	0.61207096154077445	0.06651	0.14762	0.18572	N	AEFI	0.051622	0.09138	N	-0.847683905494326	0.12106	0.5881527	-0.861358791928399	0.13014	0.6728044	1.38592646467133E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.59	3.4	0.38031	1.671000	0.37129	-0.395000	0.09449	-0.552000	0.04894	0.060000	0.21767	0.000000	0.08366	0.002000	0.04165	0.8959:0.0:0.1041:0.0	6.932	0.23625	789	0.46346	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.07143	865.83	35	chr4	67946524	.	A	G	865.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.552;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-0.414;SOR=0.633	GT:AD:DP:GQ:PL	0/1:35,38:73:99:876,0,815	6	0	1	0
chr4	68471515	68471515	A	C	exonic	TMPRSS11E	.	nonsynonymous SNV	TMPRSS11E:NM_014058:exon5:c.A382C:p.T128P	.	429	1085	4	0	4	8	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.0326262728397	.	.	0.0004	0	0	0	0	1.503e-05	0.0011	0.0026	0.0002911	45	154602	rs543569632	0.0001	0.0001	6.824e-05	0.0002	0.0021	0.0001	0.0001	0.0018	0.0017	0	0	0	0	0	0.0007	5.403e-06	6.643e-05	0.0021	3.965e-05	5.261e-05	1.291e-05	6.768e-05	0.0012	1.723e-05	1.135e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.026	0.46910	D	0.022	0.57587	D	0.984	0.60733	D	0.907	0.64423	P	0.000064	0.52346	D	0.000000	0.727198	0.33680	D	2.085	0.57729	M	1.02	0.40749	T	-3.2	0.64710	D	0.486	0.52029	-0.7303	0.58948	T	0.148	0.47308	T	10	0.050452977	0.04780	T	0.032626	0.54402	D	0.215	0.50805	.	.	0.533614126537	0.53011	0.5429239288331668	0.54217	0.546491555766	0.51644	0.432075083256	0.29492	T	0.03359	0.22976	T	-0.264097	0.12424	T	-0.157681	0.58559	T	0.171024629828321	0.18649	T	0.610839	0.23175	T	0.8614922	0.88200	0.8466711	0.91281	0.8614922	0.88201	0.8466711	0.91282	-4.732	0.33789	T	.	.	0.086	0.10449	B	.	.	3.639916	0.51603	23.1	0.99402561559785807	0.62887	0.78929	0.39019	D	AEFI	0.384503	0.46560	N	0.296590946263954	0.55975	3.76176	0.291717003799635	0.55055	3.668975	1.12516801010949E-4	0.05269	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.97	4.79	0.60909	2.444000	0.44549	.	.	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.882000	0.42233	0.8441:0.0:0.0:0.1559	9.573	0.38607	778	0.48011	SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000521	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	558.49	34	chr4	68471515	.	A	C	558.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.479;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-0.664;SOR=0.573	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,969	6	0	1	0
chr4	68945392	68945392	A	C	exonic	UGT2A3	.	nonsynonymous SNV	UGT2A3:NM_024743:exon2:c.T778G:p.W260G	.	1	1406	110	5	0	120	0.0409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.429	.	0.0028	0.00698882	0.0073	0.0005	0.0013	0	0	0.0036	0.0145	0.0372	0.00641	991	154602	rs62641705	0.0041	0.0041	0.0028	0.0053	0.0384	0.0040	0.0039	0.0373	0.0369	0.0003	0.0010	0.0215	7.576e-05	5.629e-05	0.0172	0.0014	0.0057	0.0384	0.0030	0.0030	0.0030	0.0030	0.0359	0.0027	0.0027	0.0315	0.0298	0.0002	0	0.0015	0.0239	0.0002	0.0003	0.0102	0.0022	0.0033	0.0359	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.986033	0.81001	D	3.65	0.94181	H	0.11	0.61208	T	-12.01	0.99630	D	0.741	0.74098	-0.0049	0.82155	T	0.447	0.78252	T	10	0.012360334	0.00266	T	.	.	.	0.429	0.73590	.	.	0.758552508207	0.75635	0.49207756518636214	0.49128	0.0192299428785	0.01881	0.445290029049	0.31300	T	0.210524	0.57104	T	-0.218644	0.18177	T	-0.0596829	0.66354	T	0.126290748303984	0.15035	T	.	.	.	0.91043717	0.92336	0.72808266	0.83935	0.91043717	0.92337	0.72808266	0.83936	-10.86	0.78884	D	.	.	0.635	0.70300	P	.	.	3.289622	0.45108	22.1	0.97635165120610046	0.35046	0.95821	0.66297	D	AEFBI	0.805579	0.73012	D	0.596173627938472	0.72934	5.884708	0.424873680903011	0.63117	4.539405	0.998945740685995	0.38034	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.23	3.23	0.36150	5.361000	0.65845	.	.	0.572000	0.28966	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	1.0:0.0:0.0:0.0	9.770	0.39750	644	0.63734	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014161	0.000000	0.006793	0.000000	0.050000	0.008621	0.024390	0.026515	0.1429	1818.34	33	chr4	68945392	.	A	C	1818.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.677;DP=296;ExcessHet=0.3476;FS=0.593;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=1.91;SOR=0.775	GT:AD:DP:GQ:PL	0/1:53,58:111:99:1216,0,1299	5	0	2	0
chr4	69200588	69200588	T	C	exonic	UGT2B11	.	nonsynonymous SNV	UGT2B11:NM_001073:exon6:c.A1442G:p.H481R	.	2	1485	34	1	0	36	0.011976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	.	.	.	0.0060	0.0062	0.0022	0.0075	0.0037	0.0064	0.0113	0.0072	0.0013063	34	26028	rs200852364	8.505e-05	0.0047	8.314e-05	8.699e-05	0.0003	7.272e-05	6.812e-05	0.0001	0.0001	0.0003	0.0001	0.0005	0.0002	3.802e-05	0	6.401e-05	8.445e-05	0.0002	2.639e-05	0.0002	5.156e-05	0	4.425e-05	8.17e-06	5.16e-06	1.175e-05	6.26e-06	0	0	0	0	0	9.448e-05	0	4.425e-05	0	0	0.034	0.44029	D	0.006	0.70582	D	0.081	0.24602	B	0.092	0.30031	B	0.000142	0.49130	N	0.080367	0.999981	0.18198	N	2.885	0.83555	M	0.07	0.61677	T	-6.67	0.92346	D	0.205	0.22742	-0.8733	0.50280	T	0.173	0.51611	T	10	0.016969383	0.00360	T	.	.	.	0.189	0.46613	.	.	0.304760801415	0.30091	0.10960936450173794	0.10889	0.00993161298319	0.00904	0.401416927576	0.25266	T	0.030796	0.21743	T	-0.161398	0.26546	T	-0.469614	0.25557	T	0.892795264720917	0.54393	D	0.640736	0.25328	T	0.37984788	0.59305	0.41448992	0.65591	0.37984788	0.59305	0.41448992	0.65591	-9.706	0.72133	D	.	.	0.110	0.21125	B	.	.	1.167581	0.15569	11.95	0.37659245556180876	0.02494	0.62903	0.31924	D	AEFI	.	.	.	-1.24356243697763	0.04385	0.1977844	-1.33254164926487	0.04016	0.1885503	2.00704249431481E-6	0.01202	0.553676	0.25195	0	0.657636	0.61667	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.27	-0.615	0.11005	3.324000	0.51734	.	.	-0.873000	0.02525	0.999000	0.42656	0.000000	0.08366	0.004000	0.06068	0.0:0.1865:0.0:0.8135	6.335	0.20497	540	0.73006	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.043716	0.052326	0.046322	0.029167	0.000000	0.051724	0.054839	0.023256	0.07143	152.63	42	chr4	69200588	.	T	C	152.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.775;DP=753;ExcessHet=0;FS=2.763;MLEAC=1;MLEAF=0.071;MQ=57.35;MQRankSum=-15.82;QD=0.59;ReadPosRankSum=5.07;SOR=0.468	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1168	6	0	1	0
chr4	70054335	70054335	A	G	exonic	HTN1	.	nonsynonymous SNV	HTN1:NM_002159:exon3:c.A65G:p.H22R	.	.	.	.	.	.	.	.	.	.	.	3444196	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.00290431756759	.	0.000199681	0.0002	0	0.0001	0	0	0	0.0014	0.0013	0.0001423	22	154602	rs544517931	6.351e-05	7.465e-05	3.495e-05	9.222e-05	0.0010	5.211e-05	4.868e-05	0.0008	0.0007	0	0	0	0	0	0	4.757e-06	0.0002	0.0010	1.972e-05	1.968e-05	1.286e-05	2.689e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	0	0	0.0006	0.0	0.91255	D	0.0	0.92824	D	0.689	0.41609	P	0.352	0.42883	B	.	.	.	.	1	0.08975	N	.	.	.	0.8	0.48769	T	-4.57	0.78721	D	0.255	0.28849	-1.0006	0.29746	T	0.105	0.38440	T	8	0.022366285	0.00557	T	0.002904	0.06133	T	0.029	0.06676	0.173	0.07894	0.385417323374	0.38153	0.008843964897853489	0.00848	9.01657022897E-4	0.00079	0.290072798729	0.08932	T	0.069464	0.33716	T	-0.516881	0.00459	T	-0.574432	0.15044	T	0.733024656772614	0.42367	D	.	.	.	0.1437486	0.33024	0.14890602	0.35179	0.1437486	0.33024	0.14890602	0.35178	-3.682	0.19052	T	.	.	0.117	0.23709	B	.;.;.	.;.;.	1.494710	0.19221	14.15	0.74191394005049272	0.10604	0.02159	0.06342	N	AEFBI	0.037928	0.05291	N	-0.668504801413834	0.16923	0.866479	-0.877968490957089	0.12617	0.6500306	1.66505678783362E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.94	-0.177	0.12654	0.649000	0.24529	-0.889000	0.07035	-0.353000	0.05553	0.004000	0.16614	0.000000	0.08366	0.005000	0.06747	0.5796:0.4204:0.0:0.0	6.048	0.18999	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	57.21	15	chr4	70054335	.	A	G	57.21	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.473;DP=64;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=5.2;ReadPosRankSum=-2.965;SOR=0.495	GT:AD:DP:GQ:PL	0/0:16,0:16:48:0,48,483	4	0	1	2
chr4	70158818	70158818	C	A	exonic	PRR27	.	nonsynonymous SNV	PRR27:NM_214711:exon3:c.C566A:p.A189D	.	.	.	.	.	.	.	.	.	.	.	3901478	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.00371771076542	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1000902576	1.915e-05	1.915e-05	2.178e-05	1.65e-05	0.0002	1.328e-05	1.144e-05	1.543e-05	1.304e-05	0	0	0	0	0	0.0002	2.248e-05	1.656e-05	1.159e-05	2.63e-05	2.627e-05	1.285e-05	4.037e-05	6.541e-05	8.15e-06	5.14e-06	4.88e-06	1.83e-06	2.415e-05	0	6.541e-05	0	0	0	0	2.941e-05	0	0	0.08	0.33585	T	0.108	0.37589	T	0.343	0.33512	B	0.225	0.38015	B	.	.	.	.	1	0.08975	N	1.525	0.38595	L	1.4	0.33630	T	-1.89	0.44094	N	0.096	0.07673	-1.0098	0.26981	T	0.053	0.22539	T	9	0.084640324	0.14208	T	0.003718	0.08620	T	0.035	0.08770	0.301	0.26843	0.0401082797425	0.02173	0.12720746583964077	0.12646	0.0377085887375	0.04003	.	.	.	0.022443	0.17299	T	-0.201245	0.20626	T	-0.526851	0.19602	T	0.164807216078978	0.18220	T	.	.	.	0.096032895	0.22614	0.09191721	0.21635	0.096032895	0.22613	0.09191721	0.21635	-8.675	0.65583	D	.	.	0.174	0.38676	B	.;.	.;.	1.111664	0.14971	11.48	0.57509140013611237	0.05785	0.04924	0.10679	N	AEFDIJ	0.041536	0.06327	N	-0.901408065144344	0.10809	0.5183894	-0.972287178084202	0.10410	0.5241459	1.40791612554835E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.32	0.859	0.18173	-0.084000	0.11233	-4.048000	0.02373	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.5958:0.0:0.4042	7.227	0.25197	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	983.49	37	chr4	70158818	.	C	A	983.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.607;DP=292;ExcessHet=0;FS=1.801;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-0.082;SOR=0.491	GT:AD:DP:GQ:PL	0/1:42,41:83:99:994,0,1032	6	0	1	0
chr4	70366897	70366897	C	A	exonic	SMR3A	.	nonsynonymous SNV	SMR3A:NM_012390:exon3:c.C308A:p.P103Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00568138529399	0.0002	.	8.246e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs368646636	2.326e-05	2.326e-05	2.042e-05	2.613e-05	0.0005	1.675e-05	1.478e-05	0.0001	7.544e-05	0	0	0	0	0	0.0005	2.159e-05	3.313e-05	5.797e-05	1.317e-05	1.971e-05	1.287e-05	1.348e-05	2.944e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.944e-05	0	0	0.0	0.91255	D	0.028	0.54934	D	0.738	0.42905	P	0.3	0.41053	B	.	.	.	.	1	0.08975	N	1.78	0.46185	L	1.64	0.27822	T	-3.62	0.69593	D	0.276	0.31253	-1.0481	0.14932	T	0.042	0.17910	T	9	0.08820516	0.15166	T	0.005681	0.14712	T	0.013	0.01715	.	.	0.0666544352282	0.05500	0.11584647257568718	0.11512	0.0577316834944	0.06392	.	.	.	0.035686	0.23816	T	-0.338949	0.05461	T	-0.543126	0.17991	T	0.390166133642197	0.28571	T	0.40366	0.10339	T	0.3227545	0.54871	0.29156962	0.55182	0.3227545	0.54871	0.29156962	0.55181	-4.926	0.36026	T	.	.	0.154	0.33981	B	.	.	1.714939	0.21836	15.37	0.78316792192872065	0.12248	0.05802	0.11739	N	AEFI	0.022976	0.01218	N	-0.695915888496455	0.16137	0.8195536	-0.8447670206558	0.13413	0.6956919	1.81065352628824E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.66	0.851	0.18128	0.121000	0.15496	0.048000	0.13961	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.503000	0.29084	0.2611:0.5893:0.0:0.1496	3.157	0.06117	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	124.44	99	chr4	70366897	.	C	A	124.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.484;DP=745;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=1.24;SOR=0.307	GT:AD:DP:GQ:PL	0/0:167,0:167:99:0,120,1800	6	0	1	0
chr4	70642375	70642375	C	T	exonic	ENAM	.	nonsynonymous SNV	ENAM:NM_001368133:exon2:c.C295T:p.R99C,ENAM:NM_031889:exon9:c.C949T:p.R317C	Amelogenesis imperfecta, type IB, Autosomal dominant;Amelogenesis imperfecta, type IC, Autosomal recessive	0	1519	2	1	0	4	0.00131492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0162735152782	.	0.000199681	3.304e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs564877872	1.163e-05	1.163e-05	6.806e-06	1.65e-05	0.0002	7.08e-06	5.79e-06	0.0001	8.646e-05	0	0	0	0	0	0	1.799e-06	0	0.0002	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.051	0.39334	T	0.165	0.30926	T	0.999	0.77913	D	0.886	0.62898	P	0.881834	0.07240	N	1.056630	0.999174	0.21543	N	2.125	0.59049	M	1.47	0.31987	T	-1.37	0.33998	N	0.149	0.15187	-0.9389	0.42790	T	0.107	0.38832	T	10	0.05851236	0.06890	T	0.016274	0.37444	T	0.054	0.15330	0.205	0.12076	0.513226221338	0.50963	0.2336898415457953	0.23283	0.166635259758	0.18802	0.201683551073	0.00507	T	0.221651	0.58528	T	-0.441139	0.01273	T	-0.597143	0.13052	T	0.558170258998871	0.34786	D	0.946705	0.82942	D	0.057897292	0.11579	0.0632726	0.12510	0.057897292	0.11579	0.0632726	0.12510	-9.481	0.70741	D	.	.	0.176	0.38498	B	.;.	.;.	1.764613	0.22442	15.62	0.99597925915395646	0.74042	0.01664	0.05329	N	AEFBI	0.061352	0.11722	N	-0.286042685627231	0.29686	1.648512	-0.443836850908407	0.23725	1.295272	0.117653379184328	0.16806	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.93	-1.07	0.09459	-0.948000	0.04007	-0.213000	0.10835	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.007000	0.07825	0.0:0.4079:0.0:0.5921	10.023	0.41229	863	0.32847	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1356.46	33	chr4	70642375	.	C	T	1356.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.965;DP=319;ExcessHet=0;FS=0.646;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=-1.568;SOR=0.72	GT:AD:DP:GQ:PL	0/1:80,56:136:99:1367,0,1954	6	0	1	0
chr4	73442372	73442372	A	C	exonic	AFP	.	nonsynonymous SNV	AFP:NM_001134:exon5:c.A559C:p.K187Q,AFP:NM_001354717:exon5:c.A85C:p.K29Q	Alpha-fetoprotein deficiency, Autosomal recessive	0	1434	86	2	0	90	0.030426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	0.0085	0.00579073	0.0107	0.0015	0.0046	0	0.0056	0.0148	0.0111	0.0120	0.0102198	1580	154602	rs35765619	0.0100	0.0100	0.0099	0.0101	0.0473	0.0098	0.0098	0.0427	0.0409	0.0021	0.0061	0.0598	0.0001	0.0062	0.0473	0.0092	0.0150	0.0114	0.0086	0.0086	0.0084	0.0089	0.0122	0.0082	0.0081	0.0108	0.0102	0.0018	0.0351	0.0122	0.0614	0	0.0041	0.0340	0.0095	0.0208	0.0122	0.205	0.20078	T	0.33	0.19721	T	0.79	0.44599	P	0.49	0.47330	P	0.000023	0.55875	D	0.114545	0.645196	0.32912	D	1.83	0.48079	L	0.85	0.47130	T	-0.26	0.11185	N	0.149	0.15187	-0.7760	0.56526	T	0.090	0.34683	T	10	0.0028496683	0.00045	T	.	.	.	0.090	0.26093	.	.	.	.	0.10880772504355984	0.10809	0.243530582748	0.26857	0.423839718103	0.28365	T	0.111791	0.42756	T	-0.543176	0.00321	T	-0.542623	0.18039	T	0.0308828407571469	0.02127	T	0.712529	0.32403	T	0.2085064	0.43089	0.17459998	0.39867	0.18125178	0.39286	0.17459998	0.39866	-3.377	0.14748	T	.	.	0.099	0.18828	B	.;.	.;.	2.461662	0.31716	18.82	0.98290296841271174	0.39945	0.67771	0.33554	D	AEFDBHCI	0.226950	0.35082	N	0.188298087251018	0.50637	3.251831	0.186493612588919	0.49107	3.117882	0.999999999849649	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.33	4.11	0.47350	0.459000	0.21619	3.047000	0.36105	0.691000	0.84096	0.075000	0.22209	0.992000	0.31684	0.953000	0.50222	0.9082:0.0:0.0918:0.0	8.108	0.30059	783	0.47268	Serum albumin, N-terminal|Serum albumin, conserved site|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal;Serum albumin, N-terminal|Serum albumin, conserved site|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal	.	.	.	.	rs35765619	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.040785	0.050505	0.052989	0.014620	0.000000	0.077586	0.051829	0.022727	0.1429	1859.34	34	chr4	73442372	.	A	C	1859.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.06;DP=289;ExcessHet=0.3476;FS=0.615;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.831;SOR=0.796	GT:AD:DP:GQ:PL	0/1:42,43:85:99:1094,0,942	5	0	2	0
chr4	74098908	74098908	T	C	exonic	CXCL2	.	nonsynonymous SNV	CXCL2:NM_002089:exon2:c.A115G:p.T39A	.	419	1075	27	1	0	29	0.0133089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	0.0054	0.00399361	0.0053	0.0013	0.0048	0	0.0017	0.0071	0.0011	0.0052	0.0055109	852	154602	rs142264518	0.0080	0.0080	0.0080	0.0080	0.0092	0.0079	0.0078	0.0090	0.0090	0.0013	0.0053	0.0071	0	0.0022	0.0060	0.0092	0.0069	0.0048	0.0053	0.0053	0.0056	0.0049	0.0084	0.0050	0.0049	0.0078	0.0076	0.0013	0	0.0070	0.0078	0	0.0016	0.0102	0.0084	0.0057	0.0035	0.464	0.08634	T	0.714	0.05452	T	0.412	0.35138	B	0.243	0.38752	B	0.374024	0.04379	N	1.352830	1	0.08975	N	0.91	0.23283	L	1.47	0.31987	T	-0.94	0.25118	N	0.13	0.12484	-1.0218	0.23129	T	0.031	0.13461	T	10	0.008147299	0.00185	T	.	.	.	0.029	0.06676	.	.	0.0611884634855	0.05136	0.055223335469588006	0.05463	0.519100328345	0.49743	0.501825511456	0.39083	T	0.111758	0.42750	T	-0.687276	0.00043	T	-0.755436	0.03279	T	0.00504711474146004	0.00054	T	0.458954	0.13262	T	0.067993216	0.14775	0.048668914	0.07276	0.067993216	0.14774	0.048668914	0.07275	-5.075	0.37643	T	.	.	0.070	0.03407	B	.	.	-1.332293	0.00411	0.008	0.85659637330782556	0.16031	0.05429	0.11302	N	ALL	0.127355	0.24469	N	-1.07008416053043	0.07199	0.3337245	-1.22133093208772	0.05568	0.2656721	0.999999999204032	0.74766	0.685219	0.55550	0	0.596491	0.49125	0	0.674405	0.61402	0	0.581474	0.35302	0	.	.	3.44	-3.03	0.05100	-3.414000	0.00532	-7.930000	0.01059	-1.009000	0.01772	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6915:0.0:0.0:0.3085	7.821	0.28450	404	0.82510	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.010101	0.004076	0.000000	0.000000	0.000000	0.012195	0.003788	0.07143	113.44	34	chr4	74098908	.	T	C	113.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.1;DP=211;ExcessHet=0;FS=3.332;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=-1.068;SOR=0.105	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1162	6	0	1	0
chr4	75516961	75516961	T	G	exonic	THAP6	.	nonsynonymous SNV	THAP6:NM_001317791:exon3:c.T270G:p.D90E,THAP6:NM_144721:exon3:c.T270G:p.D90E	.	441	1080	1	0	0	1	0.000462749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.0256727871315	.	.	.	.	.	.	.	.	.	.	.	.	.	rs143920365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.576e-06	6.568e-06	1.286e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.238	0.19710	T	0.317	0.21011	T	0.002	0.09854	B	0.012	0.16012	B	0.003199	0.35300	N	0.196550	0.998727	0.22567	N	0.77	0.19370	N	-3.88	0.95953	D	-0.93	0.24898	N	0.207	0.29889	-0.4320	0.71001	T	0.557	0.83854	D	9	0.11737943	0.22166	T	0.025673	0.48627	D	0.227	0.52620	0.415	0.45380	0.286081765059	0.28222	0.07958313866828533	0.07893	0.178201552963	0.20047	0.449294269085	0.31847	T	0.20593	0.68011	T	-0.037707	0.46287	T	-0.29194	0.45571	T	0.105341888964176	0.12934	T	0.650435	0.32820	T	0.06105311	0.12599	0.043948464	0.05585	0.06105311	0.12598	0.043948464	0.05585	-4.801	0.37463	T	.	.	0.121	0.34049	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.099034	0.14832	11.37	0.87865257005689446	0.17539	0.44410	0.27312	N	AEFBI	0.097878	0.19733	N	-0.650967224095488	0.17432	0.8969746	-0.528689769911561	0.21375	1.156033	0.999385585773059	0.39415	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.09	-0.446	0.11627	0.346000	0.19737	1.028000	0.23458	0.665000	0.62972	0.869000	0.30776	1.000000	0.68203	0.998000	0.85391	0.1432:0.0833:0.2972:0.4763	2.389	0.04107	939	0.14249	.;.;THAP-type zinc finger|THAP-type zinc finger;.;.;.;.;.;THAP-type zinc finger|THAP-type zinc finger	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	399.27	34	chr4	75516961	.	T	G	399.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.266;DP=175;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.97;ReadPosRankSum=0.694;SOR=0.61	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1116	5	0	1	1
chr4	75564170	75564170	G	A	exonic	ODAPH	.	nonsynonymous SNV	ODAPH:NM_001257072:exon2:c.G124A:p.D42N,ODAPH:NM_178497:exon2:c.G124A:p.D42N	.	9	1509	4	0	0	4	0.00132363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.00991521965184	0.0002	0.000199681	0.0002	0	8.637e-05	0	0	0.0003	0	6.056e-05	0.0001552	24	154602	rs148555641	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0001	0.0002	0.0002	5.974e-05	0.0002	0	0	5.616e-05	0.0005	0.0002	9.935e-05	2.319e-05	0.0002	0.0002	0.0003	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0	0.0110	0.0002	0	0	0	0	0.0003	0	0	0.0	0.91255	D	0.0	0.92824	D	0.552	0.38158	P	0.217	0.37636	B	0.001455	0.38980	N	0.115474	1	0.81001	D	.	.	.	1.29	0.35775	T	-4.43	0.77554	D	0.322	0.36254	-1.0641	0.10760	T	0.064	0.26562	T	10	0.025942385	0.00773	T	0.009915	0.25811	T	0.119	0.33137	.	.	0.0666544352282	0.05500	.	.	.	.	.	.	.	0.023356	0.17844	T	-0.226793	0.17075	T	-0.267356	0.48087	T	0.811162650585175	0.47130	D	0.681532	0.29028	T	0.4740251	0.65537	0.35773695	0.61262	0.4740251	0.65538	0.35773695	0.61262	-3.874	0.21913	T	0.6423188591774359	0.71322	0.141	0.36214	B	.;.	.;.	3.751777	0.53785	23.4	0.99884534496592159	0.95970	0.78601	0.38804	D	AEFI	0.054142	0.09817	N	0.0372917739493595	0.43559	2.64644	0.128549192918233	0.46016	2.854618	0.14174447574508	0.17286	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.9	4.05	0.46415	1.916000	0.39617	7.044000	0.57347	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.825000	0.38878	0.0992:0.0:0.9008:0.0	9.097	0.35804	938	0.14419	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	966.44	67	chr4	75564170	.	G	A	966.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.27;DP=272;ExcessHet=0;FS=2.156;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=0.546;SOR=1.074	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,114,1710	6	0	1	0
chr4	75596318	75596318	A	G	exonic	CDKL2	.	nonsynonymous SNV	CDKL2:NM_001330724:exon10:c.T1345C:p.C449R,CDKL2:NM_003948:exon10:c.T1345C:p.C449R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0110396452886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.859	0.08559	T	0.419	0.16865	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.822586	0.28863	N	-0.805	0.01590	N	-0.39	0.69158	T	0.38	0.03579	N	0.387	0.42834	-0.9827	0.34375	T	0.110	0.39651	T	9	0.0666028	0.09159	T	0.01104	0.28250	T	0.062	0.17934	0.478	0.55663	0.390531646278	0.38663	0.28055893764511397	0.27968	0.0241125835916	0.02450	0.45585462451	0.32743	T	0.060641	0.31441	T	-0.140416	0.29825	T	-0.439474	0.28867	T	0.0657180627583649	0.08037	T	0.69953	0.30934	T	0.24751839	0.47730	0.19816792	0.43636	0.24751839	0.47730	0.19816792	0.43635	-2.369	0.04946	T	.	.	0.105	0.28750	B	.;.	.;.	2.375919	0.30495	18.45	0.59723156729688731	0.06291	0.53799	0.29459	D	AEFI	0.207183	0.33338	N	-0.400960622633995	0.25436	1.380737	-0.190898580112057	0.31870	1.808	3.83961669283709E-5	0.03775	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.5	2.94	0.33188	1.569000	0.36037	4.694000	0.44378	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.7578:0.0:0.0854:0.1568	5.946	0.18454	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr4	75596318	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1064	6	1	0	0
chr4	75597100	75597100	T	C	exonic	CDKL2	.	nonsynonymous SNV	CDKL2:NM_001330724:exon9:c.A1157G:p.N386S,CDKL2:NM_003948:exon9:c.A1157G:p.N386S	.	436	1085	1	0	0	1	0.000460617	.	.	.	3940297	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.0261170655178	.	0.000199681	9.884e-05	0	0	0	0	0	0	0.0007	8.41e-05	13	154602	rs563758976	4.583e-05	4.583e-05	2.995e-05	6.188e-05	0.0007	3.661e-05	3.347e-05	0.0005	0.0005	0	0	0	0	0	0	1.799e-06	0.0001	0.0007	6.565e-06	6.561e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.463	0.08660	T	0.459	0.12632	T	0.102	0.25827	B	0.024	0.20255	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	0.93	0.70014	T	-0.98	0.25986	N	0.151	0.16168	-1.0168	0.24755	T	0.129	0.43787	T	9	0.024222136	0.00659	T	0.026117	0.49051	D	0.042	0.11227	0.143	0.04650	0.427139414373	0.42328	0.03843915735260456	0.03789	0.0171929848995	0.01662	0.234485089779	0.02316	T	0.071684	0.34268	T	-0.520498	0.00437	T	-0.617843	0.11355	T	0.0244953238648933	0.01207	T	0.686731	0.29555	T	0.0342947	0.03822	0.043190863	0.05317	0.0342947	0.03822	0.043190863	0.05317	-2.364	0.04917	T	.	.	0.058	0.00636	B	.;.	.;.	0.064105	0.04743	1.369	0.30628482100941018	0.01685	0.04987	0.10759	N	AEFI	0.071432	0.14220	N	-1.17550993488669	0.05371	0.2447312	-1.15817185978397	0.06622	0.3193794	2.40096953448954E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.35	1.83	0.24279	1.285000	0.32866	2.789000	0.34784	-0.111000	0.15049	0.310000	0.25414	0.961000	0.29326	0.054000	0.15518	0.6581:0.0:0.0:0.3419	7.700	0.27783	914	0.21048	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1264.49	37	chr4	75597100	.	T	C	1264.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.029;DP=299;ExcessHet=0;FS=2.644;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.928;SOR=0.982	GT:AD:DP:GQ:PL	0/1:62,50:112:99:1275,0,1660	6	0	1	0
chr4	75804156	75804156	G	A	exonic	USO1	.	nonsynonymous SNV	USO1:NM_003715:exon18:c.G2009A:p.R670K,USO1:NM_001290049:exon20:c.G2042A:p.R681K	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	.	.	0.00219649	0.0015	0	0.0003	0	0	0	0	0.0109	0.0012354	191	154602	rs184028252	0.0006	0.0006	0.0003	0.0010	0.0105	0.0006	0.0006	0.0099	0.0097	2.989e-05	8.965e-05	0	0	0	0.0005	8.996e-07	0.0003	0.0105	0.0002	0.0002	0.0002	0.0003	0.0066	0.0002	0.0001	0.0048	0.0042	0	0	0.0002	0	0	0	0	0	0	0.0066	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000001	0.84330	N	0.090633	0.996139	0.23105	N	-2.085	0.00160	N	.	.	.	.	.	.	0.176	0.18920	-0.9596	0.39255	T	0.046	0.19879	T	10	0.0053853393	0.00118	T	.	.	.	0.397	0.71163	.	.	0.0675242888579	0.06100	0.1253222387636828	0.12458	.	.	0.36901062727	0.20689	T	0.007366	0.06780	T	-0.362376	0.03998	T	-0.283909	0.46401	T	0.0338161513209343	0.02606	T	0.638236	0.25169	T	0.10135704	0.23942	0.19846734	0.43681	0.10135704	0.23942	0.19846734	0.43680	-3.063	0.10876	T	.	.	0.056	0.00496	B	.;.	.;.	1.162754	0.15516	11.91	0.41243702196239002	0.02963	0.34284	0.25031	N	AEFDGBI	0.059667	0.11285	N	-1.20645960583525	0.04904	0.2223732	-0.935733786835061	0.11255	0.5722619	0.711209473047024	0.22822	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.35	2.91	0.32903	4.829000	0.62427	5.157000	0.47777	-0.104000	0.15758	1.000000	0.71638	1.000000	0.68203	0.794000	0.37478	0.8264:0.0:0.1736:0.0	9.676	0.39203	912	0.21483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	453.46	35	chr4	75804156	.	G	A	453.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.438;DP=236;ExcessHet=0;FS=1.076;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=-0.454;SOR=0.534	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,114,1710	6	0	1	0
chr4	76166260	76166260	T	A	exonic	SCARB2	.	nonsynonymous SNV	SCARB2:NM_001204255:exon7:c.A800T:p.Y267F,SCARB2:NM_005506:exon10:c.A1229T:p.Y410F	Epilepsy, progressive myoclonic 4, with or without renal failure, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	.	520502	Progressive_myoclonic_epilepsy	MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.225	0.0181889289597	.	.	8.238e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs777270813	1.231e-05	1.231e-05	1.633e-05	8.25e-06	0.0003	7.7e-06	6.35e-06	0.0001	0.0001	0	0	0	0.0003	0	0	5.396e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	0.11050	T	0.551	0.12848	T	0.002	0.09854	B	0.03	0.21741	B	0.000005	0.62929	D	0.110934	0.999934	0.51612	D	1.235	0.30780	L	-0.61	0.71779	T	-1.3	0.34992	N	0.427	0.47765	-0.6951	0.60670	T	0.279	0.65109	T	10	0.43326747	0.57629	T	0.018189	0.40170	T	0.225	0.52323	0.797	0.91729	0.193865811164	0.18958	0.826242829663348	0.82582	0.223792437189	0.24896	0.517915844917	0.41332	T	0.234883	0.60201	T	-0.104615	0.35662	T	-0.218921	0.52840	T	0.376824302184032	0.28060	T	0.889011	0.67973	D	0.657118	0.75744	0.38668182	0.63554	0.657118	0.75746	0.38668182	0.63554	-4.131	0.25980	T	0.14011160077437554	0.15652	0.123	0.30920	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.252396	0.28770	17.91	0.96955385019923512	0.31755	0.93632	0.58750	D	AEFBI	0.475317	0.51921	N	0.0415018028291463	0.43753	2.66205	0.23485268371034	0.51793	3.358746	0.999999241073093	0.74766	0.744818	0.98587	0	0.732433	0.95613	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	3.760000	0.54947	4.155000	0.42174	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.164	0.65000	884	0.28482	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	922.63	34	chr4	76166260	.	T	A	922.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.735;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=-1.005;SOR=0.673	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1156	6	0	1	0
chr4	78421901	78421901	C	T	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_001166133:exon34:c.C4579T:p.R1527W,FRAS1:NM_025074:exon34:c.C4579T:p.R1527W	Fraser syndrome, Autosomal recessive	0	1500	21	1	0	23	0.00760834	.	.	.	194089	FRAS1-related_disorder|not_provided|Fraser_syndrome_1|not_specified|Inborn_genetic_diseases	.|MedGen:C3661900|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000,Orphanet:2052|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.237	0.0345845618254	0.0019	0.00139776	0.0024	0.0006	0.0040	0	0.0005	0.0031	0.0033	0.0019	0.0024709	382	154602	rs1872267	0.0029	0.0029	0.0028	0.0030	0.0206	0.0028	0.0028	0.0176	0.0165	0.0006	0.0041	0.0054	2.519e-05	0.0008	0.0206	0.0030	0.0038	0.0022	0.0026	0.0026	0.0025	0.0026	0.0051	0.0024	0.0023	0.0042	0.0039	0.0008	0	0.0051	0.0063	0	0.0004	0.0068	0.0032	0.0128	0.0019	0.009	0.57480	D	0.004	0.74150	D	.	.	.	.	.	.	0.109182	0.19495	N	0.501604	0.910955	0.36410	D	2.32	0.66415	M	0.78	0.49358	T	-4.0	0.74051	D	0.482	0.81261	-0.7367	0.58621	T	0.206	0.56389	T	10	0.02777487	0.00918	T	0.034585	0.55777	D	0.237	0.54074	.	.	0.813552112702	0.81179	0.479536063764076	0.47873	.	.	0.217010706663	0.01145	T	.	.	.	-0.385688	0.02867	T	-0.322786	0.42270	T	0.0149505278862864	0.00319	T	0.658334	0.27311	T	.	.	.	.	.	.	.	.	-5.475	0.44496	T	.	.	0.086	0.10739	B	.;.	.;.	3.820498	0.55160	23.6	0.99910527062422272	0.98022	0.65475	0.32750	D	AEFBI	0.284771	0.39756	N	0.364037970078274	0.59485	4.128271	0.330677865140439	0.57349	3.900429	0.0689781306949531	0.15476	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	5.81	5.81	0.92413	2.431000	0.44433	2.149000	0.30898	0.549000	0.26987	0.977000	0.34929	0.241000	0.23851	0.203000	0.21983	0.183:0.8169:0.0:0.0	14.513	0.67386	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018630	0.050505	0.021739	0.011696	0.050000	0.008621	0.009146	0.003788	0.07143	48.44	37	chr4	78421901	.	C	T	48.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.718;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.4;ReadPosRankSum=0.008;SOR=1.179	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1065	6	0	1	0
chr4	78508732	78508732	T	C	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_025074:exon63:c.T9506C:p.V3169A	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	0.4394	0.346	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.757	0.0822650296365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.70582	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.652	0.66272	0.529	0.90956	D	0.692	0.89360	D	10	0.8419106	0.83348	D	0.082265	0.73862	D	.	.	.	.	0.741063859369	0.73873	0.5533152347053865	0.55257	.	.	0.772940993309	0.77865	T	.	.	.	0.261	0.79613	D	0.136988	0.79348	D	0.980328601458701	0.73299	D	0.875612	0.58729	D	.	.	.	.	.	.	.	.	-5.23	0.39245	T	.	.	0.600	0.68892	P	.	.	3.858896	0.55945	23.7	0.99729787362667155	0.82690	0.97852	0.77613	D	AEFBI	0.832806	0.75112	D	0.624369879188896	0.74718	6.180685	0.584428565692904	0.73822	6.033988	0.999999988851718	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	5.62	5.62	0.85714	6.113000	0.71239	5.026000	0.46786	0.502000	0.22824	1.000000	0.71638	1.000000	0.68203	0.847000	0.40026	0.0:0.0:0.0:1.0	15.797	0.78192	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr4	78508732	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	1	0	0
chr4	87340604	87340604	A	G	exonic	HSD17B11	.	nonsynonymous SNV	HSD17B11:NM_016245:exon6:c.T698C:p.L233S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.384	0.167808394983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.72154	D	0.014	0.76473	D	.	.	.	.	.	.	0.017432	0.27726	N	0.298550	0.998972	0.45795	D	.	.	.	-2.68	0.90391	D	-4.05	0.76414	D	0.248	0.28028	0.780	0.94165	D	0.814	0.93719	D	10	0.3729534	0.53616	T	0.167808	0.84608	D	0.384	0.70112	0.406	0.43902	0.889542543598	0.88845	0.7689353996091175	0.76842	0.471083547616	0.46372	0.373074382544	0.21272	T	.	.	.	0.121666	0.66539	D	-0.0630122	0.66121	T	0.963954329490662	0.66812	D	0.657134	0.26688	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	0.60805	A	.;.	.;.	4.220945	0.63840	24.6	0.99738588480691437	0.83337	0.65618	0.32798	D	AEFBI	0.428660	0.49209	N	0.361139639612077	0.59331	4.111553	0.249451105806055	0.52619	3.435483	0.999033337002404	0.38264	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.44	5.44	0.79348	2.961000	0.48861	7.991000	0.76112	0.756000	0.94297	0.966000	0.33990	1.000000	0.68203	0.956000	0.50813	1.0:0.0:0.0:0.0	13.324	0.59887	660	0.61921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	32	chr4	87340604	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1106	6	1	0	0
chr4	87615021	87615021	G	A	exonic	DSPP	.	nonsynonymous SNV	DSPP:NM_014208:exon5:c.G2359A:p.D787N	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1074	447	1	0	0	1	0.00111732	.	.	.	1202975	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.242	.	0.0072	0.00658946	0.0029	0.0257	0	0	0	0.0002	0	0	0.0007697	119	154602	rs200350687	0.0008	0.0008	0.0009	0.0007	0.0225	0.0008	0.0008	0.0211	0.0206	0.0225	0.0017	0	0	0.0045	0.0012	2.966e-05	0.0019	0.0001	0.0072	0.0071	0.0071	0.0073	0.0235	0.0068	0.0067	0.0222	0.0217	0.0235	0	0.0026	0	0	0.0068	0	8.879e-05	0.0048	0	.	.	.	0.195	0.28032	T	1.0	0.90584	D	0.983	0.75793	D	.	.	.	.	0.999998	0.08975	N	0.805	0.20218	L	-2.36	0.88143	D	-0.49	0.15578	N	0.127	0.12055	-0.4005	0.72011	T	0.486	0.80395	T	9	0.006106645	0.00137	T	.	.	.	0.242	0.54781	.	.	0.703754780653	0.70118	0.0012919295981752609	0.00119	.	.	.	.	.	0.067113	0.33119	T	-0.500564	0.00568	T	-0.474882	0.24991	T	0.0175185195756789	0.00487	T	0.333467	0.07063	T	0.09085824	0.21272	0.067117706	0.13842	0.09085824	0.21272	0.067117706	0.13842	-5.939	0.45766	T	.	.	.	.	.	.	.	1.140514	0.15277	11.73	0.44668349258317014	0.03451	0.07983	0.13965	N	AEFGBCI	0.028427	0.02501	N	-0.420805275608117	0.24740	1.338061	-0.682468237078409	0.17399	0.9249969	4.7681793187006E-4	0.07095	0.581397	0.33459	0	0.573888	0.26702	0	0.565031	0.19037	0	0.567339	0.31927	0	.	.	1.33	1.33	0.20958	0.659000	0.24677	-0.945000	0.06834	-0.640000	0.04453	0.012000	0.18695	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	6.084	0.19179	500	0.76024	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006250	0.000000	0.008929	0.024194	0.000000	0.000000	0.000000	0.000000	0.08333	404.27	34	chr4	87615021	.	G	A	404.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.252;DP=228;ExcessHet=0;FS=1.32;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.208;SOR=0.988	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	5	0	1	1
chr4	87615398	87615398	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1101	241	102	25	53	205	0.239748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1019.18	37	chr4	87615398	.	T	*	1019.18	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.3;DP=279;ExcessHet=2.5225;FS=2.583;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=5.57;ReadPosRankSum=-0.228;SOR=0.675	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,101,1347	5	0	2	0
chr4	87615730	87615733	ATAG	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	514.71	21	chr4	87615730	.	ATAG	*	514.71	.	AC=6;AF=0.429;AN=14;DP=257;ExcessHet=0.0509;FS=0;MLEAC=6;MLEAF=0.429;MQ=58.07;QD=3.06;SOR=0.724	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,101,1347:.	2	1	4	0
chr4	87615734	87615767	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1008	200	99	33	182	347	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	601.9	21	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	*	601.9	.	AC=6;AF=0.429;AN=14;DP=276;ExcessHet=0.0509;FS=0;MLEAC=6;MLEAF=0.429;MQ=57.54;QD=3.58;SOR=0.724	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,101,1347:.	2	1	4	0
chr4	87615953	87615955	CGA	-	exonic	DSPP	.	nonframeshift deletion	DSPP:NM_014208:exon5:c.3291_3293del:p.D1098del	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1179	318	11	12	2	37	0.052161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0128	0.0294	0.0156	0.0188	0	0.0121	0.0161	0.0101	3.84e-05	1	26028	rs748972998	0.0018	0.0011	0.0013	0.0023	0.0064	0.0017	0.0017	0.0058	0.0056	0.0035	0.0004	0.0072	0	0.0031	0.0044	0.0010	0.0023	0.0064	0.0159	0.0080	0.0145	0.0174	0.0253	0.0147	0.0142	0.0194	0.0173	0.0037	0.0828	0.0107	0.0399	0	0.0319	0.0125	0.0160	0.0159	0.0253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1622.77	3	chr4	87615952	.	GCGA	G	1622.77	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-0.362;DP=188;ExcessHet=0.6695;FS=1.366;MLEAC=3;MLEAF=0.375;MQ=59.84;MQRankSum=-0.772;QD=11.85;ReadPosRankSum=0.988;SOR=0.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,40:109:99:0|1:87615952_GCGA_G:1045,0,2756:87615952	2	0	2	3
chr4	87615957	87615962	AGCAGC	-	exonic	DSPP	.	nonframeshift deletion	DSPP:NM_014208:exon5:c.3295_3300del:p.S1099_S1100del	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1160	197	41	98	26	263	0.375594	.	.	.	1190239	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0072	0.0216	0.0125	0	0	0.0069	0.0185	0.0054	3.84e-05	1	26028	rs764563712	0.0026	0.0012	0.0018	0.0033	0.0118	0.0024	0.0024	0.0107	0.0103	0.0045	0.0012	0.0117	0	0.0040	0.0070	0.0013	0.0036	0.0118	0.0182	0.0074	0.0165	0.0201	0.0491	0.0168	0.0162	0.0373	0.0332	0.0043	0.1096	0.0100	0.0499	0	0.0412	0.0250	0.0170	0.0196	0.0491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1950.11	3	chr4	87615956	.	TAGCAGC	T	1950.11	.	AC=2;AF=0.2;AN=10;BaseQRankSum=1.6;DP=179;ExcessHet=0.2119;FS=0.607;MLEAC=3;MLEAF=0.3;MQ=59.16;MQRankSum=-0.833;QD=12.91;ReadPosRankSum=1.36;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,40:113:99:0|1:87615952_GCGA_G:1032,0,2904:87615952	3	0	2	2
chr4	87615962	87615962	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1185	208	24	81	24	210	0.30897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	299.25	3	chr4	87615962	.	C	*	299.25	.	AC=2;AF=0.25;AN=8;DP=177;ExcessHet=0.2119;FS=1.289;MLEAC=3;MLEAF=0.375;MQ=45.11;QD=2;SOR=0.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,40:113:99:0|1:87615952_GCGA_G:1032,0,2904:87615952	2	0	2	3
chr4	87663016	87663016	A	G	exonic	DMP1	.	nonsynonymous SNV	DMP1:NM_001079911:exon5:c.A1190G:p.N397S,DMP1:NM_004407:exon6:c.A1238G:p.N413S	Hypophosphatemic rickets, AR, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.00187386220863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	2.722e-06	4.125e-06	4.496e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	0	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.472	0.08996	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.012883	0.01348	N	2.309530	1	0.08975	N	-0.345	0.03330	N	1.04	0.40218	T	-0.16	0.09460	N	0.059	0.03069	-0.9447	0.41863	T	0.039	0.16634	T	10	0.04759881	0.04099	T	0.001874	0.03272	T	0.124	0.34239	.	.	0.290962096972	0.28708	0.008433477902571198	0.00807	0.0459716684163	0.04993	0.240108221769	0.02800	T	0.04553	0.27151	T	-0.438261	0.01324	T	-0.867308	0.00768	T	0.235209822654724	0.22197	T	0.659134	0.26825	T	0.018106753	0.00332	0.029846232	0.01368	0.018106753	0.00332	0.029846232	0.01368	-1.429	0.01625	T	0.07201610725143838	0.02917	0.071	0.03773	B	.;.	.;.	-1.832328	0.00146	0.002	0.18400377698509077	0.00577	0.01101	0.04040	N	AEFDBI	0.027203	0.02181	N	-2.31085609007063	0.00043	0.001841818	-2.35329901907144	0.00050	0.002213832	0.999689658472893	0.41756	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.02	-10.0	0.00350	-2.073000	0.01464	-1.650000	0.04986	-1.576000	0.00927	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2344:0.0:0.6688:0.0968	15.426	0.74775	419	0.81524	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	679.49	40	chr4	87663016	.	A	G	679.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.19;DP=289;ExcessHet=0;FS=2.371;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=2.45;SOR=0.971	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1238	6	0	1	0
chr4	88094610	88094610	T	C	exonic	ABCG2	.	nonsynonymous SNV	ABCG2:NM_001257386:exon15:c.A1777G:p.M593V,ABCG2:NM_001348986:exon15:c.A1787G:p.N596S,ABCG2:NM_001348987:exon15:c.A1781G:p.N594S,ABCG2:NM_001348989:exon15:c.A1787G:p.N596S,ABCG2:NM_004827:exon15:c.A1787G:p.N596S,ABCG2:NM_001348985:exon16:c.A1787G:p.N596S,ABCG2:NM_001348988:exon16:c.A1787G:p.N596S	.	418	1101	3	0	0	3	0.00136054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0518643486553	7.7e-05	0.000199681	0.0005	9.615e-05	8.646e-05	0.0005	0	4.497e-05	0	0.0034	0.0004786	74	154602	rs147547385	0.0003	0.0003	0.0002	0.0004	0.0039	0.0003	0.0003	0.0035	0.0034	5.974e-05	6.708e-05	0	0.0003	0	0.0005	6.655e-05	0.0003	0.0039	0.0002	0.0002	0.0001	0.0003	0.0039	0.0002	0.0001	0.0026	0.0021	2.406e-05	0	0.0002	0	0.0004	0	0	0.0001	0.0005	0.0039	0.159	0.23813	T	0.144	0.33109	T	0.021	0.18474	B	0.059	0.26602	B	0.000789	0.41772	D	0.262816	0.89663	0.36073	D	.	.	.	-1.97	0.85173	D	-2.19	0.49352	N	0.538	0.56576	-0.4360	0.70863	T	0.425	0.76863	T	10	0.0076381564	0.00173	T	0.051864	0.64837	D	0.162	0.41843	.	.	0.648914522055	0.64600	.	.	0.0277202138358	0.02835	0.437941759825	0.30296	T	0.134439	0.46568	T	-0.152873	0.27863	T	0.00584209	0.70714	D	0.0255781330640464	0.01350	T	0.710329	0.32115	T	0.35053357	0.57108	0.24949972	0.50523	0.35053357	0.57109	0.24949972	0.50522	-6.837	0.52834	T	.	.	0.071	0.03811	B	.	.	1.616046	0.20643	14.85	0.90459334535290736	0.19717	0.35101	0.25223	N	AEFBI	0.367276	0.45479	N	-0.587757812939553	0.19315	1.009951	-0.533891636186449	0.21234	1.147791	0.997786925265109	0.36027	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.58	4.4	0.52402	3.054000	0.49600	0.593000	0.19842	0.663000	0.56723	0.985000	0.35982	0.216000	0.23679	0.405000	0.26894	0.0:0.0824:0.0:0.9176	9.631	0.38947	563	0.71062	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	1086.44	37	chr4	88094610	.	T	C	1086.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.21;DP=300;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=-1.713;SOR=0.723	GT:AD:DP:GQ:PL	0/1:66,51:117:99:1097,0,1532	6	0	1	0
chr4	88132628	88132628	T	C	exonic	ABCG2	.	nonsynonymous SNV	ABCG2:NM_001257386:exon3:c.A211G:p.M71V,ABCG2:NM_001348986:exon3:c.A211G:p.M71V,ABCG2:NM_001348987:exon3:c.A211G:p.M71V,ABCG2:NM_001348989:exon3:c.A211G:p.M71V,ABCG2:NM_004827:exon3:c.A211G:p.M71V,ABCG2:NM_001348985:exon4:c.A211G:p.M71V,ABCG2:NM_001348988:exon4:c.A211G:p.M71V	.	419	1099	4	0	0	4	0.00181653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.602	0.038708706416	0.0008	0.000199681	0.0009	0.0002	0.0007	0	0	0.0010	0.0011	0.0016	0.0007697	119	154602	rs148475733	0.0007	0.0007	0.0007	0.0008	0.0040	0.0007	0.0007	0.0027	0.0023	5.974e-05	0.0007	0.0004	0	0.0001	0.0040	0.0007	0.0008	0.0015	0.0008	0.0008	0.0009	0.0008	0.0017	0.0007	0.0007	0.0011	0.0010	9.62e-05	0	0.0014	0.0006	0	0.0002	0	0.0013	0.0005	0.0017	0.078	0.65419	T	0.188	0.41742	T	0.815	0.62824	P	0.674	0.60373	P	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	-2.32	0.00092	N	1.47	0.31987	T	-3.41	0.67129	D	0.814	0.88466	0.171	0.85418	D	0.404	0.75409	T	10	0.09197295	0.16157	T	0.038709	0.58383	D	0.602	0.84291	.	.	0.730699672202	0.72830	.	.	0.0453724689316	0.04917	0.58058398962	0.50168	T	0.315834	0.68741	T	0.0550983	0.58997	T	0.281741	0.87221	D	0.863053739070892	0.51332	D	0.860814	0.92845	D	0.7839551	0.82898	0.69957274	0.82301	0.7839551	0.82899	0.69957274	0.82302	-9.475	0.71082	D	.	.	0.359	0.66799	A	.;.;.;.	.;.;.;.	4.312071	0.65921	24.9	0.96374141426099658	0.29594	0.98112	0.79700	D	AEFI	0.880009	0.80634	D	0.179410712347126	0.50212	3.213326	0.347380083858577	0.58350	4.005017	0.999999997660583	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.32	5.32	0.75377	7.728000	0.83805	7.683000	0.65396	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.265	0.65659	599	0.68140	.;ABC transporter-like;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	490.27	34	chr4	88132628	.	T	C	490.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0;DP=221;ExcessHet=0;FS=2.508;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0.715;SOR=1.038	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	5	0	1	1
chr4	88476005	88476005	G	A	exonic	HERC5	.	nonsynonymous SNV	HERC5:NM_016323:exon12:c.G1557A:p.M519I	.	431	1090	1	0	0	1	0.000458505	.	.	.	2769921	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.119	0.00829367628352	.	0.000199681	0.0001	0	0	0	0	0	0	0.0008	9.06e-05	14	154602	rs530839547	6.295e-05	6.43e-05	2.995e-05	9.627e-05	0.0010	5.229e-05	4.846e-05	0.0009	0.0008	0	0	0	0	0	0	0	4.968e-05	0.0010	2.626e-05	2.625e-05	1.285e-05	4.027e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.014	0.58626	D	0.013	0.63109	D	0.0	0.02946	B	0.005	0.11217	B	0.009318	0.30420	N	0.254707	0.994024	0.23959	N	1.635	0.41844	L	1.32	0.35219	T	-2.52	0.60507	D	0.183	0.19861	-0.9514	0.40730	T	0.106	0.38783	T	10	0.044550657	0.03424	T	0.008294	0.21954	T	0.119	0.33137	0.598	0.72862	0.442261297928	0.43845	0.31372982051136644	0.31285	0.16812889918	0.18958	0.463547617197	0.33796	T	0.03752	0.24504	T	-0.502626	0.00553	T	-0.545204	0.17790	T	0.0902986600995064	0.11254	T	0.680232	0.31438	T	0.25454673	0.48484	0.23436067	0.48650	0.25454673	0.48484	0.23436067	0.48649	-6.394	0.49463	T	.	.	0.361	0.64686	A	.;.	.;.	1.568298	0.20082	14.58	0.94905216576331286	0.25761	0.72496	0.35482	D	AEFBI	0.131149	0.24998	N	-0.205177914903495	0.32921	1.861985	-0.147484893710409	0.33505	1.917267	0.740433115529781	0.23203	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	4.79	3.93	0.44666	1.854000	0.39008	4.165000	0.42235	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.496000	0.28927	0.0:0.2023:0.7977:0.0	11.336	0.48741	802	0.44336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	639.63	45	chr4	88476005	.	G	A	639.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.511;DP=231;ExcessHet=0;FS=0.972;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=0.709;SOR=0.512	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1190	6	0	1	0
chr4	89935264	89935264	C	A	exonic	MMRN1	.	nonsynonymous SNV	MMRN1:NM_007351:exon6:c.C1584A:p.D528E,MMRN1:NM_001371403:exon7:c.C1584A:p.D528E	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.01002204287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.362e-06	0	2.521e-05	0	0	.	.	0	0	0	2.521e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.12552	T	0.773	0.04431	T	0.006	0.13644	B	0.002	0.06944	B	0.290577	0.03892	N	1.449940	1	0.08975	N	1.245	0.31408	L	0.24	0.64086	T	-0.1	0.16598	N	0.046	0.01825	-0.9707	0.37052	T	0.085	0.33185	T	10	0.037647575	0.02132	T	0.010022	0.26057	T	0.035	0.08770	0.043	0.00046	0.253726318573	0.24972	0.05133742496473169	0.05075	0.0119939315936	0.01133	0.229091510177	0.01901	T	0.030196	0.29212	T	-0.314123	0.07390	T	-0.688992	0.06448	T	0.168213233351707	0.18458	T	0.335866	0.07168	T	0.03657091	0.04525	0.022681538	0.00288	0.03657091	0.04525	0.022681538	0.00288	-2.881	0.08955	T	.	.	0.101	0.17445	B	.;.;.	.;.;.	-2.083295	0.00084	0.001	0.49377730285334864	0.04200	0.01501	0.04973	N	AEFDBI	0.044304	0.07111	N	-1.88043968497568	0.00377	0.01618126	-1.95208806945656	0.00385	0.01701041	0.990464690735158	0.32162	0.631515	0.41029	0	0.573888	0.26702	0	0.573888	0.23631	0	0.741806	0.99463	0	.	.	5.12	-8.65	0.00755	-2.314000	0.01206	-2.746000	0.03404	-2.150000	0.00374	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3795:0.374:0.0777:0.1687	3.745	0.08071	871	0.31377	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	689.63	34	chr4	89935264	.	C	A	689.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.551;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.65;SOR=0.698	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1215	6	0	1	0
chr4	89936498	89936498	G	C	exonic	MMRN1	.	nonsynonymous SNV	MMRN1:NM_007351:exon6:c.G2818C:p.E940Q,MMRN1:NM_001371403:exon7:c.G2818C:p.E940Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0102538806098	.	.	8.29e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs751173219	1.369e-06	1.368e-06	0	2.752e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.25979	T	0.507	0.10930	T	0.868	0.47740	P	0.178	0.35748	B	0.048944	0.23205	N	0.461272	1	0.18612	N	2	0.54354	M	0.22	0.64818	T	-0.27	0.17624	N	0.114	0.10198	-0.9820	0.34538	T	0.135	0.44875	T	10	0.16622388	0.31046	T	0.010254	0.26566	T	0.084	0.24469	0.329	0.31357	0.586846695618	0.58358	0.15878765651503646	0.15799	0.0245335028444	0.02488	0.270668625832	0.06228	T	0.037	0.30734	T	-0.187615	0.22608	T	-0.507272	0.21597	T	0.130668461322784	0.15444	T	0.735426	0.35200	T	0.07945302	0.18152	0.044073984	0.05627	0.07945302	0.18152	0.044073984	0.05627	-3.42	0.15327	T	.	.	0.099	0.17785	B	.;.;.	.;.;.	1.836309	0.23329	15.98	0.97715319666304901	0.35525	0.48655	0.28256	N	AEFGBI	0.245895	0.36675	N	0.00176974428528094	0.41935	2.517423	0.0246006715697119	0.40860	2.445322	0.0016984835978496	0.08790	0.67177	0.52595	0	0.588015	0.36545	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	5.3	3.29	0.36801	1.420000	0.34411	0.917000	0.22674	0.676000	0.76740	0.866000	0.30720	0.187000	0.23467	0.970000	0.54328	0.2689:0.1589:0.5722:0.0	5.122	0.14196	871	0.31377	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	714.53	84	chr4	89936498	.	G	C	714.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.347;DP=272;ExcessHet=0;FS=4.355;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.51;ReadPosRankSum=0.544;SOR=1.284	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1215	6	0	1	0
chr4	95841007	95841007	G	C	exonic	PDHA2	.	nonsynonymous SNV	PDHA2:NM_005390:exon1:c.G857C:p.R286P	.	259	1180	76	7	0	90	0.0367347	.	.	.	2736164	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.837	.	0.0072	0.00479233	0.0091	0.0013	0.0039	0	0.0018	0.0103	0.0122	0.0205	0.0087644	1355	154602	rs147966234	0.0089	0.0089	0.0083	0.0094	0.0291	0.0088	0.0087	0.0255	0.0242	0.0015	0.0043	0.0293	2.519e-05	0.0026	0.0291	0.0083	0.0102	0.0217	0.0065	0.0065	0.0064	0.0066	0.0207	0.0061	0.0060	0.0174	0.0162	0.0013	0.0022	0.0059	0.0254	0.0002	0.0015	0.0272	0.0090	0.0085	0.0207	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	4.415	0.98701	H	-6.13	0.99538	D	-6.77	0.92782	D	0.682	0.68863	0.850	0.95025	D	0.988	0.99644	D	10	0.019148856	0.00424	T	.	.	.	0.837	0.94877	.	.	0.992494906561	0.99240	0.9509457850072159	0.95078	0.758613918606	0.64132	0.350653082132	0.18018	T	0.90863	0.98262	D	-0.0689159	0.41501	T	0.144487	0.79834	D	0.171731782637727	0.18697	T	0.972603	0.90144	D	0.97855526	0.98997	0.94133365	0.97855	0.97077864	0.98332	0.94133365	0.97855	-14.866	0.95531	D	0.8323588741810592	0.90287	0.984	0.91951	P	.	.	4.374370	0.67375	25.1	0.99635093215139092	0.76264	0.91787	0.54262	D	AEFI	0.551425	0.56350	D	0.704312212544012	0.79916	7.179797	0.518303780275318	0.69223	5.329706	0.00490781993713498	0.10757	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	4.91	3.17	0.35510	3.625000	0.53979	7.265000	0.57972	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0835:0.1496:0.7669:0.0	8.906	0.34685	875	0.30485	Dehydrogenase, E1 component	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020141	0.010101	0.004076	0.038012	0.050000	0.025862	0.024390	0.022727	0.07143	1267.44	122	chr4	95841007	.	G	C	1267.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.33;DP=311;ExcessHet=0;FS=0.678;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=0.271;SOR=0.594	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	6	0	1	0
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P,ADH1B:NM_001286650:exon4:c.G88C:p.A30P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	978.75	100	chr4	99318097	.	C	G	978.75	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-2.434;DP=759;ExcessHet=3.1439;FS=289.841;MLEAC=5;MLEAF=0.5;MQ=59.98;MQRankSum=0;QD=1.93;ReadPosRankSum=-0.36;SOR=10.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:106,51:171:99:.:.:283,0,1689:.	1	0	4	2
chr4	99347057	99347057	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	0.987	0.61912	D	0.964	0.71005	D	.	.	.	.	.	.	.	1.585	0.39878	L	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.45086047	0.58689	T	.	.	.	.	.	.	.	0.456647468687	0.45291	0.8867280223172282	0.88641	.	.	0.398606598377	0.24874	T	0.025436	0.35537	T	0.163225	0.70500	D	-0.00331565	0.70121	D	.	.	.	0.937806	0.78939	D	0.76270866	0.81614	0.69800264	0.82213	0.76270866	0.81615	0.69800264	0.82214	-9.592	0.71430	D	.	.	0.950	0.86857	P	.;.;.	.;.;.	3.454651	0.48119	22.6	0.99707451619795451	0.81074	0.77981	0.38408	D	AEFI	0.799589	0.72581	D	.	.	.	.	.	.	2.3174768173114E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	2.86	0.32427	2.765000	0.47304	4.616000	0.44056	0.549000	0.26987	0.378000	0.25989	0.437000	0.24884	0.144000	0.20092	0.0:0.9091:0.0:0.0909	11.418	0.49207	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1470.26	74	chr4	99347057	.	C	G	1470.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.608;DP=640;ExcessHet=11.5949;FS=371.344;MLEAC=6;MLEAF=0.5;MQ=59.94;MQRankSum=0;QD=2.7;ReadPosRankSum=-0.101;SOR=10.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:75,55:130:99:.:.:371,0,1028:.	0	0	6	1
chr4	99347058	99347058	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G207C:p.E69D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.83351	D	0.994	0.66517	D	0.929	0.66367	D	.	.	.	.	.	.	.	1.565	0.39561	L	.	.	.	.	.	.	0.851	0.84713	.	.	.	.	.	.	.	0.5626589	0.64875	D	.	.	.	.	.	.	.	0.427139414373	0.42328	0.8914061528926898	0.89110	.	.	0.513031244278	0.40645	T	0.026211	0.58974	T	0.22255	0.76017	D	0.0819005	0.75705	D	.	.	.	0.975102	0.94195	D	0.6913734	0.77585	0.5877092	0.76085	0.6913734	0.77587	0.5877092	0.76086	-12.015	0.84925	D	.	.	0.959	0.87947	P	.;.;.	.;.;.	2.789522	0.36664	20.3	0.99424627263076804	0.63935	0.54002	0.29509	D	AEFI	0.672285	0.63874	D	.	.	.	.	.	.	1.82240512729962E-6	0.01202	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	0.955	0.18725	0.069000	0.14419	-0.861000	0.07140	0.549000	0.26987	0.372000	0.25940	0.002000	0.18203	0.136000	0.19798	0.0:0.4777:0.0:0.5223	7.455	0.26434	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	93.45	74	chr4	99347058	.	C	G	93.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.309;DP=318;ExcessHet=0;FS=67.824;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.26;ReadPosRankSum=-0.025;SOR=5.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:49,0:49:99:.:.:0,105,1575:.	6	0	1	0
chr4	99908842	99908842	T	A	exonic	DNAJB14	.	nonsynonymous SNV	DNAJB14:NM_001278310:exon3:c.A305T:p.D102V,DNAJB14:NM_001031723:exon4:c.A506T:p.D169V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.974	0.323098567769	.	.	8.265e-06	0	0	0	0	1.503e-05	0	0	6.5e-06	1	154602	rs770627510	2.761e-06	2.736e-06	2.745e-06	2.776e-06	0.0007	6.5e-07	4.4e-07	0.0002	0.0001	0	0	0	0	0	0.0007	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.16	0.97626	H	-1.68	0.82897	D	-8.06	0.96621	D	0.984	0.99337	0.982	0.96896	D	0.841	0.94673	D	10	0.990291	0.99525	D	0.323099	0.91533	D	0.974	0.99740	0.94	0.99182	0.971345757431	0.97103	0.9161035530012551	0.91585	1.82390175866	0.91984	0.813775718212	0.84071	D	0.570309	0.85761	D	0.464139	0.93105	D	0.428927	0.93019	D	0.999723494052887	0.98678	D	0.990101	0.96950	D	0.9260877	0.93847	0.89217514	0.94421	0.9260877	0.93847	0.89217514	0.94421	-16.327	0.98210	D	.	.	0.988	0.92981	P	.	.	5.378510	0.90144	31	0.9940760891716266	0.63122	0.98416	0.82551	D	AEFGBI	0.889171	0.82299	D	1.05074920217489	0.97106	15.60014	0.95121608610903	0.97440	16.13303	0.999999985539213	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.8	5.8	0.92081	7.468000	0.79953	7.776000	0.68567	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:0.0:1.0	16.155	0.81470	783	0.47268	DnaJ domain|DnaJ domain|DnaJ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	595.27	31	chr4	99908842	.	T	A	595.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.435;DP=225;ExcessHet=0;FS=0.956;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=0.897;SOR=0.662	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1030	5	0	1	1
chr4	101870531	101870531	A	G	exonic	BANK1	.	nonsynonymous SNV	BANK1:NM_001127507:exon4:c.A391G:p.N131D,BANK1:NM_001083907:exon5:c.A700G:p.N234D,BANK1:NM_017935:exon5:c.A790G:p.N264D	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0016556788882	.	.	4.139e-05	0	0	0	0	7.52e-05	0	0	3.23e-05	5	154602	rs757403063	1.643e-05	1.642e-05	1.363e-05	1.927e-05	1.98e-05	1.112e-05	9.34e-06	1.296e-05	1.107e-05	0	0	0	0	0	0	1.98e-05	3.316e-05	0	6.579e-06	6.568e-06	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.249	0.17183	T	0.209	0.27855	T	0.01	0.15535	B	0.006	0.12133	B	0.863542	0.07131	N	1.084050	1	0.08975	N	0.955	0.23872	L	2.89	0.18724	T	-2.26	0.53736	N	0.177	0.19055	-0.9996	0.30030	T	0.034	0.14421	T	10	0.060062736	0.07317	T	0.001656	0.02702	T	0.030	0.07022	0.435	0.48664	0.0884992946249	0.08302	0.3838124739847945	0.38296	0.0225156976006	0.02270	0.253305137157	0.04124	T	0.202972	0.56131	T	-0.465836	0.00903	T	-0.750552	0.03464	T	0.0691446936416757	0.08531	T	0.540346	0.18307	T	0.08510048	0.19727	0.12788557	0.30777	0.08510048	0.19727	0.12788557	0.30776	-9.279	0.70542	D	.	.	0.083	0.14062	B	.;.;.;.;.	.;.;.;.;.	-0.235752	0.02913	0.422	0.93534444315049581	0.23357	0.03442	0.08582	N	AEFI	0.055901	0.10291	N	-1.43134781589623	0.02367	0.1044674	-1.54588987022547	0.02004	0.09157627	0.967102462698091	0.28953	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.63	-7.91	0.01031	-0.506000	0.06441	-1.029000	0.06554	-0.208000	0.08445	0.038000	0.20882	0.000000	0.08366	0.250000	0.23263	0.2568:0.3571:0.3861:0.0	7.588	0.27174	949	0.11373	.;DBB domain|DBB domain|DBB domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	285.27	34	chr4	101870531	.	A	G	285.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.579;DP=224;ExcessHet=0;FS=1.154;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.71;ReadPosRankSum=-0.593;SOR=0.495	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	1
chr4	102901328	102901328	A	G	exonic	SLC9B1	.	nonsynonymous SNV	SLC9B1:NM_139173:exon12:c.T1337C:p.V446A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00643925364402	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1327935654	1.37e-06	2.736e-06	2.727e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	7.823e-05	0.0001	7.747e-05	7.9e-05	0.0002	2.624e-05	1.529e-05	1.777e-05	7.27e-06	0	0	0.0002	0	0	0	0.0062	0.0001	0	0	1.0	0.00964	T	1.0	0.01155	T	0.016	0.17332	B	0.02	0.19048	B	0.000618	0.42945	N	0.153979	1	0.81001	D	-0.615	0.02190	N	2.7	0.12162	T	1.01	0.01387	N	0.213	0.23758	-0.9962	0.30974	T	0.013	0.04890	T	9	0.09769705	0.17614	T	0.006439	0.16956	T	0.116	0.32463	0.669	0.80703	0.204665344411	0.20097	0.3999573593688878	0.39910	1.97522762311	0.93589	0.645212590694	0.59305	T	0.019959	0.15803	T	-0.177078	0.24170	T	-0.492137	0.23166	T	0.112276427149202	0.13657	T	0.873013	0.58094	D	0.041773368	0.06215	0.056932013	0.10261	0.041773368	0.06215	0.056932013	0.10261	0.089	0.00319	T	.	.	0.525	0.65696	A	.	.	2.653942	0.34557	19.66	0.79473595169391498	0.12758	0.56281	0.30077	D	AEFI	0.262823	0.38049	N	-0.286795909455227	0.29656	1.646616	-0.13523907177363	0.33981	1.94965	1.75392100895679E-4	0.05786	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.04	4.04	0.46262	3.501000	0.53085	6.917000	0.56917	0.691000	0.84096	0.998000	0.41325	1.000000	0.68203	0.975000	0.56047	0.7912:0.0:0.2088:0.0	5.310	0.15136	904	0.23766	Cation/H+ exchanger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	40	chr4	102901328	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=300;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=54.17;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	6	1	0	0
chr4	103656225	103656225	T	C	exonic	TACR3	.	nonsynonymous SNV	TACR3:NM_001059:exon3:c.A857G:p.K286R	Hypogonadotropic hypogonadism 11 with or without anosmia, Autosomal recessive	1	1500	20	1	0	22	0.00727995	.	.	.	438891	Hypogonadotropic_hypogonadism_11_with_or_without_anosmia|not_specified|not_provided	MONDO:MONDO:0013913,MedGen:C3553844,OMIM:614840,Orphanet:478|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.082	.	0.0078	0.0125799	0.0037	0.0244	0.0037	0.0049	0	0.0015	0.0066	0.0004	0.0037128	574	154602	rs2276973	0.0020	0.0020	0.0020	0.0020	0.0278	0.0019	0.0019	0.0264	0.0258	0.0278	0.0049	0.0021	0.0030	5.617e-05	0.0155	0.0010	0.0047	0.0005	0.0084	0.0084	0.0085	0.0082	0.0246	0.0080	0.0079	0.0234	0.0229	0.0246	0	0.0068	0.0020	0.0037	0	0.0137	0.0013	0.0118	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.006	0.12133	B	0.000000	0.84330	N	0.090435	0.99829	0.44734	D	-1.145	0.00921	N	1.22	0.37052	T	1.13	0.01182	N	0.07	0.04307	-1.0087	0.27323	T	0.004	0.01330	T	10	0.0065711737	0.00149	T	.	.	.	0.082	0.23913	.	.	0.574740180783	0.57141	0.31866114532647033	0.31779	0.275921393324	0.30072	0.514854073524	0.40902	T	0.077116	0.35580	T	-0.64367	0.00079	T	-0.67844	0.07079	T	0.0100539360536265	0.00135	T	0.774523	0.40643	T	0.077552885	0.17610	0.12819299	0.30846	0.077552885	0.17610	0.12819299	0.30845	-1.849	0.02659	T	.	.	0.076	0.05845	B	.	.	2.692017	0.35142	19.82	0.20302096642413928	0.00724	0.94489	0.61330	D	AEFI	0.609590	0.59873	D	-0.660540248401181	0.17153	0.8802791	-0.372296377162333	0.25827	1.422693	0.0123906561700481	0.12320	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.72	3.32	0.37134	3.461000	0.52800	1.687000	0.28047	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1452:0.0:0.8548	9.255	0.36737	603	0.67726	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.023666	0.055556	0.040761	0.008772	0.000000	0.017241	0.000000	0.007576	0.07143	283.49	33	chr4	103656225	.	T	C	283.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.47;DP=240;ExcessHet=0;FS=1.149;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.89;ReadPosRankSum=-0.115;SOR=0.941	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	6	0	1	0
chr4	105648651	105648651	A	T	exonic	ARHGEF38	.	nonsynonymous SNV	ARHGEF38:NM_001242729:exon7:c.A977T:p.H326L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.301	0.0801146133614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	0.999929	0.51308	D	1.875	0.49914	L	0.16	0.60610	T	-7.95	0.96317	D	0.465	0.50146	-0.4453	0.70555	T	0.305	0.67612	T	7	0.35388303	0.52184	T	0.080115	0.73387	D	0.301	0.62179	0.42	0.46200	0.527958119908	0.52444	0.3831793919884473	0.38232	0.289006806369	0.31306	0.683838188648	0.64821	T	0.087702	0.37999	T	-0.0241895	0.48254	T	-0.272523	0.47565	T	0.988468706607819	0.78791	D	0.79722	0.44094	T	0.58016324	0.71617	0.5818156	0.75758	0.58016324	0.71619	0.5818156	0.75759	-10.808	0.78594	D	.	.	0.438	0.61577	A	.	.	4.003280	0.59000	24.0	0.9718220933285513	0.32727	0.97539	0.75410	D	AEFBI	0.786087	0.71628	D	0.43721980057395	0.63482	4.582768	0.495075602475038	0.67663	5.11428	0.999674289067756	0.41644	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.3	5.3	0.74745	6.016000	0.70451	9.208000	0.79221	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.287	0.73535	890	0.26919	BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	638.53	33	chr4	105648651	.	A	T	638.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.432;DP=243;ExcessHet=0;FS=3.514;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-0.444;SOR=0.573	GT:AD:DP:GQ:PL	0/1:32,30:62:99:649,0,834	6	0	1	0
chr4	106925831	106925831	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G341A:p.G114D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0291245027067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.63226	D	0.021	0.63918	D	0.951	0.53992	P	0.735	0.55480	P	0.000005	0.62929	D	0.107028	0.994	0.42059	D	1.7	0.43825	L	0.85	0.48142	T	-1.85	0.43334	N	0.685	0.69913	-0.7097	0.59967	T	0.248	0.61681	T	10	0.61480206	0.67645	D	0.029125	0.51692	D	0.154	0.40340	0.678	0.81594	0.264728329957	0.26087	0.8653075087143794	0.86495	1.22684531646	0.81226	0.752565979958	0.74825	T	0.442734	0.78679	T	-0.0546003	0.43745	T	-0.316206	0.42988	T	0.972929537296295	0.69890	D	0.886311	0.70760	D	0.37360525	0.58850	0.5223394	0.72403	0.37360525	0.58851	0.5223394	0.72404	-7.397	0.56883	T	.	.	0.367	0.59672	A	.;.;.	.;.;.	4.655487	0.74259	26.1	0.99823967070247299	0.90677	0.91016	0.52696	D	AEFBI	0.580056	0.58062	D	0.550661877863298	0.70121	5.455422	0.576481034080092	0.73257	5.941059	0.0968722313810203	0.16265	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	3.206000	0.50800	7.598000	0.61467	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	19.578	0.95446	856	0.34373	Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	268.63	38	chr4	106925831	.	C	T	268.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.989;DP=329;ExcessHet=0;FS=61.025;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.85;ReadPosRankSum=0.704;SOR=6.358	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,23:145:99:0|1:106925831_C_T:279,0,4835:106925831	6	0	1	0
chr4	106925832	106925832	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G340A:p.G114S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0128117469006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	2.736e-06	1.363e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.31383	T	0.211	0.26631	T	0.43	0.35583	B	0.182	0.35926	B	0.000005	0.62929	D	0.107028	0.983825	0.40064	D	0.385	0.12166	N	1.0	0.42502	T	0.11	0.05706	N	0.394	0.43514	-1.0438	0.16177	T	0.127	0.43277	T	10	0.35083738	0.51947	T	0.012812	0.31705	T	0.118	0.32913	0.478	0.55663	0.244449712813	0.24043	0.7762054454360905	0.77570	1.06429463323	0.76581	0.629008471966	0.57004	T	0.204767	0.56362	T	-0.183324	0.23242	T	-0.501108	0.22233	T	0.944571077823639	0.62088	D	0.874113	0.62218	D	0.13693072	0.31725	0.19670437	0.43414	0.13693072	0.31725	0.19670437	0.43413	-2.414	0.05219	T	.	.	0.062	0.02765	B	.;.;.	.;.;.	3.818082	0.55117	23.6	0.99853102462042453	0.93191	0.91327	0.53310	D	AEFBI	0.511669	0.54020	D	0.171727963477029	0.49844	3.180471	0.28848329974208	0.54864	3.650462	0.106605283266664	0.16534	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	2.352000	0.43735	7.597000	0.61435	0.549000	0.26987	0.976000	0.34826	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	19.578	0.95446	856	0.34373	Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	188.63	62	chr4	106925832	.	C	T	188.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.103;DP=352;ExcessHet=0;FS=61.025;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.35;ReadPosRankSum=0.593;SOR=6.358	GT:AD:DP:GQ:PL	0/1:122,18:145:99:199,0,4887	6	0	1	0
chr4	106925835	106925835	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G337A:p.D113N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.270	0.0409605523354	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.25560	T	0.159	0.31527	T	0.997	0.70673	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.58	0.39772	L	0.73	0.50721	T	-1.13	0.31778	N	0.763	0.76111	-0.6682	0.61910	T	0.255	0.62507	T	10	0.8717991	0.86449	D	0.040961	0.59663	D	0.270	0.58507	0.747	0.87821	0.571105923196	0.56776	0.8853690277812167	0.88505	1.05113681247	0.76148	0.77137362957	0.77630	T	0.371317	0.73571	T	-0.11651	0.33696	T	-0.405135	0.32787	T	0.988464534282684	0.78791	D	0.833117	0.66017	T	0.15710528	0.35417	0.20876941	0.45193	0.15710528	0.35417	0.20876941	0.45192	-5.023	0.37089	T	.	.	0.512	0.65118	A	.;.;.	.;.;.	4.890499	0.80292	27.3	0.99916574834063099	0.98449	0.98670	0.85379	D	AEFBI	0.928019	0.91157	D	0.711950777066906	0.80415	7.289328	0.723652254566983	0.84173	8.219279	0.999999544324329	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	5.813000	0.68876	7.598000	0.61467	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	19.578	0.95446	856	0.34373	Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	268.63	66	chr4	106925835	.	C	T	268.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.46;DP=357;ExcessHet=0;FS=61.393;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.85;ReadPosRankSum=0.579;SOR=6.358	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,23:145:99:0|1:106925831_C_T:279,0,4814:106925831	6	0	1	0
chr4	106925843	106925843	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G329A:p.C110Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.176637981399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.654e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.955	0.85029	M	-1.1	0.77336	T	-9.32	0.98533	D	0.932	0.94314	0.412	0.89282	D	0.664	0.88336	D	10	0.98750603	0.99120	D	0.176638	0.85234	D	0.827	0.94503	0.93	0.98900	0.885162981381	0.88403	0.9789097433456503	0.97881	1.10494106084	0.77866	0.885924994946	0.94743	D	0.85182	0.96635	D	0.396691	0.89724	D	0.332043	0.89595	D	0.999862909317017	0.99418	D	0.89791	0.64303	D	0.95217484	0.96487	0.9381204	0.97644	0.95217484	0.96487	0.9381204	0.97644	-13.914	0.92774	D	.	.	0.997	0.96936	P	.;.;.	.;.;.	5.043277	0.83952	28.2	0.99769904833187384	0.85834	0.98670	0.85379	D	AEFBI	0.952747	0.96846	D	0.846721317432968	0.88920	9.763857	0.817088242842445	0.90956	10.64858	0.999999544324329	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	7.526000	0.80815	7.598000	0.61467	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.578	0.95446	856	0.34373	Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	351.06	60	chr4	106925843	.	C	T	351.06	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.734;DP=526;ExcessHet=1.383;FS=169.805;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=2.55;SOR=8.104	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,32:147:44:1|0:106925833_A_G:44,0,2147:106925833	3	0	3	1
chr4	108846152	108846152	A	G	exonic	COL25A1	.	nonsynonymous SNV	COL25A1:NM_001256074:exon24:c.T1421C:p.L474P,COL25A1:NM_032518:exon27:c.T1502C:p.L501P,COL25A1:NM_198721:exon27:c.T1502C:p.L501P	Fibrosis of extraocular muscles, congenital, 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.611	0.403788833043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.50676	T	0.259	0.23097	T	0.999	0.77913	D	0.999	0.92359	D	0.000010	0.62929	D	0.064290	1	0.81001	D	0.45	0.12780	N	-3.27	0.94904	D	-0.7	0.25118	N	0.706	0.72388	0.596	0.91842	D	0.770	0.92195	D	9	0.66448987	0.70346	D	0.403789	0.93454	D	0.611	0.84773	0.34	0.33141	0.957423976361	0.95697	0.5358524200100512	0.53510	1.18240533111	0.80054	0.682126998901	0.64573	T	0.023829	0.65521	T	0.303992	0.83285	D	0.198887	0.83067	D	0.956896483898163	0.64872	D	0.893911	0.63238	D	0.30116326	0.53009	0.42208913	0.66121	0.30116326	0.53009	0.42208913	0.66121	-11.435	0.82393	D	0.143770635463498	0.16371	0.609	0.72103	P	.;.;.;.;.	.;.;.;.;.	4.954806	0.81875	27.7	0.99804878961312027	0.88906	0.97593	0.75770	D	AEFI	0.953730	0.97026	D	0.443512914379851	0.63836	4.62516	0.509120399516336	0.68602	5.242789	0.99999983692453	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.24	5.24	0.72863	6.790000	0.74902	11.163000	0.87713	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.134	0.72222	752	0.51611	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr4	108846152	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1010	6	1	0	0
chr4	109531447	109531447	A	G	exonic	SEC24B	.	nonsynonymous SNV	SEC24B:NM_001042734:exon19:c.A3210G:p.I1070M,SEC24B:NM_001318086:exon19:c.A3207G:p.I1069M,SEC24B:NM_001318085:exon20:c.A3312G:p.I1104M,SEC24B:NM_006323:exon20:c.A3315G:p.I1105M,SEC24B:NM_001300813:exon21:c.A3405G:p.I1135M	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.0210296529449	.	.	4.141e-05	0	0	0.0002	0	1.499e-05	0	0.0001	3.23e-05	5	154602	rs772730002	1.986e-05	2.052e-05	1.636e-05	2.34e-05	0.0002	1.393e-05	1.205e-05	8.203e-05	5.787e-05	0	0	0	0.0002	0	0.0002	8.103e-06	1.657e-05	0.0001	1.314e-05	1.313e-05	1.284e-05	1.344e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.586	0.07211	T	1.0	0.01155	T	0.005	0.14184	B	0.049	0.28987	B	0.000041	0.55875	N	0.220504	0.932132	0.37619	D	-0.555	0.02337	N	-2.47	0.88997	D	-0.23	0.10656	N	0.258	0.30914	-0.9102	0.46830	T	0.307	0.67786	T	10	0.071541876	0.10559	T	0.02103	0.43733	T	0.234	0.53644	0.706	0.84236	0.362142726121	0.35819	0.44961166095944505	0.44879	0.204518158434	0.22873	0.449130415916	0.31824	T	0.108791	0.42213	T	-0.221075	0.17847	T	-0.329634	0.41510	T	0.0152323181081269	0.00335	T	0.855414	0.54290	D	0.08971114	0.20969	0.06577124	0.13380	0.08971114	0.20969	0.06577124	0.13379	-3.715	0.19540	T	.	.	0.059	0.01075	B	.;.;.	.;.;.	1.505536	0.19345	14.22	0.58653099753232707	0.06042	0.50463	0.28668	D	AEDGBI	0.139670	0.26133	N	-0.785001225735265	0.13700	0.6768013	-0.634108035106175	0.18619	0.9954419	3.64824550843103E-4	0.06707	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.48	-1.73	0.07646	-0.139000	0.10338	0.211000	0.15962	0.750000	0.87069	0.688000	0.28513	0.457000	0.24983	0.999000	0.91618	0.3655:0.3644:0.2701:0.0	5.987	0.18670	842	0.36989	.;.;Sec23/Sec24, helical domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1395.46	96	chr4	109531447	.	A	G	1395.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.12;DP=281;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=1.59;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1354	6	0	1	0
chr4	109690945	109690948	TCTG	-	exonic	CASP6	.	frameshift deletion	CASP6:NM_032992:exon3:c.278_281del:p.T93Rfs*7,CASP6:NM_001226:exon6:c.545_548del:p.T182Rfs*7	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	6.605e-05	0	0	0	0	9.006e-05	0	0.0001	5.17e-05	8	154602	rs770617285	3.216e-05	3.215e-05	3.131e-05	3.301e-05	0.0007	2.478e-05	2.221e-05	0.0002	0.0001	0	0	0.0003	5.044e-05	0	0.0007	2.248e-05	4.968e-05	6.96e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	.	2.18e-06	8.2e-07	.	.	0	0	0	0.0003	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1690.41	33	chr4	109690944	.	CTCTG	C	1690.41	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.099;DP=286;ExcessHet=0;FS=2.543;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=-0.538;SOR=0.904	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	6	0	1	0
chr4	109816247	109816247	A	T	exonic	GAR1	.	nonsynonymous SNV	GAR1:NM_018983:exon2:c.A83T:p.H28L,GAR1:NM_032993:exon2:c.A83T:p.H28L	.	426	1090	5	1	0	7	0.00320073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00603518914283	0.0009	0.000998403	0.0017	0.0002	0.0010	0	0.0054	0.0023	0.0022	0.0004	0.0015912	246	154602	rs147082071	0.0015	0.0015	0.0015	0.0015	0.0034	0.0015	0.0014	0.0022	0.0018	0.0003	0.0015	0.0049	0	0.0054	0.0034	0.0014	0.0015	0.0005	0.0014	0.0014	0.0013	0.0015	0.0017	0.0012	0.0012	0.0015	0.0014	0.0002	0	0.0015	0.0029	0	0.0045	0.0068	0.0017	0.0019	0	0.306	0.14207	T	0.343	0.17857	T	0.18	0.29046	B	0.032	0.22131	B	0.000453	0.44317	D	0.138081	0.672778	0.30349	N	0	0.06538	N	.	.	.	-1.15	0.29525	N	0.519	0.54932	-1.0259	0.21788	T	0.039	0.16720	T	9	0.006375402	0.00144	T	0.006035	0.15757	T	0.101	0.28911	.	.	0.285775778912	0.28195	0.6012140874487679	0.60052	0.419557623521	0.42508	0.660557866096	0.61489	T	0.038788	0.24963	T	-0.362115	0.04012	T	-0.297856	0.44951	T	0.0249425236012697	0.01265	T	0.647535	0.25853	T	0.13480163	0.31306	0.13082172	0.31426	0.13480163	0.31306	0.13082172	0.31426	-6.725	0.51999	T	.	.	0.198	0.42126	B	.;.	.;.	3.555464	0.49998	22.9	0.95192154660772621	0.26375	0.85594	0.44743	D	AEFDBHCI	0.466345	0.51403	N	-0.176009703140445	0.34135	1.944768	-0.00670845671562653	0.39410	2.336349	0.999999994817605	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.32	4.32	0.50899	2.320000	0.43456	4.088000	0.41786	0.756000	0.94297	0.996000	0.39380	0.998000	0.33993	0.995000	0.73285	1.0:0.0:0.0:0.0	10.054	0.41403	707	0.57054	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007254	0.000000	0.004076	0.024476	0.000000	0.000000	0.006098	0.000000	0.07143	433.49	34	chr4	109816247	.	A	T	433.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.8;DP=297;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-1.339;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:61,0:61:99:.:.:0,120,1800:.	6	0	1	0
chr4	112430694	112430694	A	G	exonic	ALPK1	.	nonsynonymous SNV	ALPK1:NM_001253884:exon10:c.A913G:p.K305E,ALPK1:NM_001102406:exon11:c.A1147G:p.K383E,ALPK1:NM_025144:exon11:c.A1147G:p.K383E	.	435	1063	24	0	0	24	0.0111628	.	.	.	2113218	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.020	0.00449991429976	0.0010	0.00199681	0.0024	0.0003	0.0026	0	0.0002	0.0018	0.0033	0.0084	0.0023932	370	154602	rs147641444	0.0022	0.0022	0.0020	0.0024	0.0083	0.0022	0.0021	0.0078	0.0076	0.0002	0.0019	0.0029	2.519e-05	0.0001	0.0055	0.0019	0.0026	0.0083	0.0012	0.0012	0.0014	0.0011	0.0077	0.0011	0.0010	0.0057	0.0050	0.0003	0	0.0010	0.0046	0.0002	0	0.0034	0.0014	0.0019	0.0077	0.174	0.22660	T	0.762	0.05238	T	0.023	0.18885	B	0.01	0.14941	B	0.108754	0.02618	N	1.678220	1	0.08975	N	0.345	0.11182	N	4.25	0.02564	T	-0.27	0.12472	N	0.131	0.14338	-0.9445	0.41895	T	0.005	0.01506	T	10	0.0044231415	0.00090	T	0.004	0.11063	T	0.020	0.03691	.	.	0.148003135375	0.14442	.	.	0.134647161538	0.15172	0.21466101706	0.01025	T	0.00734	0.06752	T	-0.595399	0.00155	T	-0.621203	0.11091	T	0.00529022771776679	0.00057	T	0.776522	0.40874	T	0.16763307	0.37172	0.09509976	0.22539	0.2162774	0.44082	0.17180938	0.39390	-6.965	0.53778	T	0.2458817418636663	0.33302	0.112	0.21840	B	.;.;.	.;.;.	-0.796730	0.01113	0.051	0.71439283827121958	0.09629	0.10090	0.15691	N	AEFGBI	0.110451	0.21903	N	-1.45166443637729	0.02203	0.09704503	-1.55238449799688	0.01960	0.08946916	0.998452585156744	0.36996	0.693126	0.56070	0	0.659464	0.62310	0	0.573888	0.23631	0	0.615788	0.45269	1	.	.	5.72	-9.7	0.00436	-0.631000	0.05593	-0.742000	0.07615	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.071000	0.16709	0.2862:0.4148:0.2228:0.0763	4.626	0.11865	798	0.45050	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005539	0.000000	0.001359	0.005848	0.000000	0.008621	0.012195	0.015152	0.1429	2427.65	43	chr4	112430694	.	A	G	2427.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.33;DP=360;ExcessHet=0.3476;FS=7.757;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-0.074;SOR=0.354	GT:AD:DP:GQ:PL	0/1:58,55:113:99:1509,0,1497	5	0	2	0
chr4	112585671	112585671	G	C	exonic	ZGRF1	.	stopgain	ZGRF1:NM_001350397:exon13:c.C3797G:p.S1266X,ZGRF1:NM_018392:exon14:c.C3971G:p.S1324X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.46e-06	3.42e-06	4.131e-06	2.783e-06	4.532e-06	1.01e-06	7.4e-07	1.33e-06	9.7e-07	0	0	0	0	0	0	4.532e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024940	0.26177	N	0.267337	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.264	0.31027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55994	0.96164	D	0.566539	0.96104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	8.035821	0.97111	37	0.99566340608292414	0.72075	0.86747	0.46094	D	AEFBI	0.127011	0.24419	N	0.956322098490418	0.94233	12.60124	0.810700855064453	0.90527	10.44828	0.553870687567886	0.21357	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	5.65	4.8	0.61157	1.690000	0.37329	3.668000	0.39428	0.676000	0.76740	0.990000	0.36992	1.000000	0.68203	0.998000	0.85391	0.1274:0.0:0.749:0.1237	8.942	0.34894	861	0.33516	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1063.53	33	chr4	112585671	.	G	C	1063.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.51;DP=263;ExcessHet=0;FS=3.197;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=-0.6;SOR=1.114	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,114,1710	6	0	1	0
chr4	113357664	113357664	G	A	exonic	ANK2	.	nonsynonymous SNV	ANK2:NM_001148:exon38:c.G9046A:p.E3016K	Cardiac arrhythmia, ankyrin-B-related, Autosomal dominant;Long QT syndrome 4, Autosomal dominant	0	1512	10	0	0	10	0.00329598	.	.	.	189248	Cardiac_arrhythmia,_ankyrin-B-related|Long_QT_syndrome|not_provided|Cardiovascular_phenotype|Cardiomyopathy|not_specified	MONDO:MONDO:0010958,MedGen:C1970119,OMIM:600919,Orphanet:101016,Orphanet:768|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:C3661900|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.132	0.0721024209244	0.0006	0.000399361	0.0005	0.0002	0.0008	0	0	0.0006	0.0022	0.0002	0.0004786	74	154602	rs149963885	0.0004	0.0004	0.0004	0.0004	0.0021	0.0004	0.0004	0.0012	0.0009	5.975e-05	0.0013	0.0001	0	3.744e-05	0.0021	0.0005	0.0006	0.0002	0.0005	0.0005	0.0006	0.0005	0.0020	0.0004	0.0004	0.0014	0.0012	7.216e-05	0	0.0020	0	0	0	0.0034	0.0006	0.0014	0.0006	0.597	0.15354	T	0.893	0.03390	T	.	.	.	.	.	.	0.899457	0.08630	N	0.947352	1	0.31186	N	1.845	0.48678	L	-0.16	0.95859	T	0.06	0.06253	N	0.057	0.11769	-0.0549	0.81102	T	0.655	0.88004	D	10	0.01516819	0.00318	T	0.072102	0.71444	D	0.132	0.35948	.	.	0.558971769579	0.55558	0.10556884659296208	0.10486	0.0879859507346	0.09938	0.234280914068	0.02300	T	0.283429	0.65619	T	-0.271322	0.11609	T	-0.208064	0.53881	T	0.00557777982553571	0.00061	T	0.708229	0.32946	T	0.04583391	0.07571	0.038501814	0.03732	0.042629305	0.06500	0.03407378	0.02409	-4.449	0.30216	T	0.17444757711381306	0.22155	0.070	0.03407	B	.;.;.	.;.;.	0.795848	0.11661	8.247	0.15108112899133247	0.00358	0.43375	0.27084	N	AEFBI	0.203660	0.33016	N	-0.987000899873783	0.08880	0.4181224	-1.00596034638391	0.09654	0.4815393	0.999817862350144	0.43459	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	4.52	2.77	0.31614	1.507000	0.35365	2.061000	0.30394	-0.119000	0.14319	0.067000	0.21986	0.046000	0.21717	0.001000	0.02609	0.0793:0.147:0.7737:0.0	9.088	0.35755	637	0.64373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.008152	0.002924	0.000000	0.000000	0.003049	0.000000	0.07143	1113.44	108	chr4	113357664	.	G	A	1113.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.693;DP=304;ExcessHet=0;FS=0.723;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=1.65;SOR=0.586	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	6	0	1	0
chr4	119271640	119271640	G	A	exonic	USP53	.	nonsynonymous SNV	USP53:NM_001371396:exon13:c.G1627A:p.D543N,USP53:NM_001371397:exon14:c.G1780A:p.D594N,USP53:NM_001371399:exon14:c.G1780A:p.D594N,USP53:NM_001371398:exon15:c.G1780A:p.D594N,USP53:NM_019050:exon15:c.G1780A:p.D594N,USP53:NM_001371395:exon16:c.G1780A:p.D594N	.	430	1089	3	0	0	3	0.00137552	.	.	.	2269080	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.289	0.0185352585575	.	.	8.381e-06	0	0	0	0	0	0	6.098e-05	6.5e-06	1	154602	rs748278992	9.579e-06	9.577e-06	8.169e-06	1.1e-05	0.0002	5.56e-06	4.35e-06	3.85e-06	2.76e-06	0	0	0	0	0	0.0002	8.094e-06	3.312e-05	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999649	0.48019	D	3.175	0.88760	M	1.87	0.24085	T	-3.77	0.71397	D	0.843	0.97426	-0.8533	0.51739	T	0.180	0.52629	T	10	0.8430111	0.83460	D	0.018535	0.40637	T	0.289	0.60808	0.404	0.43573	0.913352281024	0.91248	0.4721300014297088	0.47131	0.604286070432	0.55376	0.60260784626	0.53273	T	0.173703	0.52267	T	-0.141768	0.29610	T	-0.340786	0.40255	T	0.993717789649963	0.84629	D	0.939306	0.77145	D	0.759889	0.81446	0.6659668	0.80413	0.759889	0.81448	0.6659668	0.80414	-7.192	0.55424	T	0.9669684756440228	0.98953	0.761	0.75547	P	.;.	.;.	4.987418	0.82664	27.8	0.9993191752488142	0.99439	0.99613	0.97991	D	AEFDGBI	0.899098	0.84310	D	0.914353333171289	0.92445	11.42724	0.90085709822688	0.95610	13.78865	0.999999999999885	0.74766	0.730579	0.87903	0	0.588015	0.36545	0	0.608884	0.39905	0	0.648885	0.59868	0	.	.	5.7	5.7	0.88690	9.310000	0.95328	11.831000	0.97525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.012	0.89148	546	0.72524	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	909.44	33	chr4	119271640	.	G	A	909.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.228;DP=304;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.33;ReadPosRankSum=-0.037;SOR=0.716	GT:AD:DP:GQ:PL	0/1:81,43:124:99:920,0,2081	6	0	1	0
chr4	121843997	121843997	T	C	exonic	BBS7	.	nonsynonymous SNV	BBS7:NM_018190:exon12:c.A1235G:p.D412G,BBS7:NM_176824:exon12:c.A1235G:p.D412G	Bardet-Biedl syndrome 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	519717	Bardet-Biedl_syndrome_7|not_provided|Retinal_dystrophy|Bardet-Biedl_syndrome|BBS7-related_ciliopathy	MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984,Orphanet:110|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MONDO:MONDO:1040042,MedGen:CN378628	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.781	0.1707333562	0.0017	0.000399361	0.0022	0.0005	0.0014	0	0.0009	0.0039	0.0045	0.0004	0.0013648	211	154602	rs111442398	0.0021	0.0021	0.0021	0.0020	0.0024	0.0020	0.0020	0.0023	0.0023	0.0004	0.0012	0.0050	0	0.0002	0.0004	0.0024	0.0018	0.0004	0.0015	0.0015	0.0016	0.0013	0.0024	0.0013	0.0012	0.0021	0.0020	0.0004	0	0.0017	0.0029	0	0.0002	0	0.0024	0.0019	0.0004	0.019	0.50132	D	0.013	0.63109	D	0.917	0.50750	P	0.732	0.55359	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.055	0.86842	M	-1.11	0.77466	T	-5.0	0.82341	D	0.748	0.74735	0.221	0.86269	D	0.526	0.82350	D	10	0.04046455	0.02617	T	0.170733	0.84821	D	0.781	0.92705	.	.	0.949250549416	0.94871	0.6588334589756615	0.65820	0.469089488547	0.46223	0.705648303032	0.67962	T	0.643882	0.89111	D	0.0475979	0.58033	T	0.296548	0.88040	D	0.0315356413692946	0.02231	T	0.939406	0.77188	D	0.64425296	0.75057	0.5870026	0.76046	0.656175	0.75695	0.5773257	0.75509	-10.895	0.80674	D	0.770651034000076	0.85167	0.584	0.68235	P	.;.	.;.	4.220633	0.63840	24.6	0.99808969547964721	0.89264	0.99315	0.94380	D	AEFBI	0.783550	0.71450	D	0.761614880273242	0.83659	8.075693	0.762744587143329	0.87107	9.109026	0.999999265673213	0.74766	0.651	0.46895	0	0.633656	0.55848	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	6.08	6.08	0.98982	6.186000	0.71955	6.022000	0.52807	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	16.644	0.85012	829	0.39537	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	488.53	22	chr4	121843997	.	T	C	488.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.23;DP=183;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=1.17;SOR=0.859	GT:AD:DP:GQ:PL	0/1:20,19:39:99:499,0,492	6	0	1	0
chr4	122188005	122188005	C	A	exonic	KIAA1109	.	nonsynonymous SNV	KIAA1109:NM_015312:exon7:c.C738A:p.F246L,KIAA1109:NM_001384125:exon9:c.C738A:p.F246L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0177080467728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.38633	T	0.008	0.67890	D	0.243	0.30970	B	0.097	0.30390	B	0.018355	0.27503	U	0.141052	0.995841	0.49177	D	1.84	0.48285	L	-3.31	0.93835	D	-3.69	0.70432	D	0.851	0.84713	-0.8499	0.51975	T	0.190	0.54093	T	10	0.7302084	0.74246	D	0.017708	0.39515	T	0.692	0.88820	0.705	0.84145	0.669371813672	0.66658	0.5258794093096545	0.52511	0.806586536335	0.66499	0.91318166256	0.97762	D	0.206761	0.56620	T	0.252945	0.78876	D	0.125562	0.78601	D	0.884598970413208	0.53485	D	0.920308	0.71149	D	0.20406342	0.42504	0.15183027	0.35748	0.20406342	0.42504	0.15183027	0.35747	-9.637	0.71709	D	0.5470324475565995	0.61602	0.985	0.92114	P	.;.	.;.	2.268309	0.28992	17.98	0.99338277170191014	0.60051	0.91571	0.53808	D	AEFDBIJ	0.389628	0.46877	N	0.182904047063434	0.50380	3.228412	0.242331994777318	0.52213	3.397767	0.727511539004173	0.23004	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.44	4.49	0.54177	2.456000	0.44654	1.129000	0.24310	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.5248:0.0:0.4752	5.229	0.14730	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	37	chr4	122188005	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1123	6	1	0	0
chr4	122429651	122429651	C	G	exonic	ADAD1	.	nonsynonymous SNV	ADAD1:NM_001159285:exon12:c.C1610G:p.A537G,ADAD1:NM_001159295:exon12:c.C1589G:p.A530G,ADAD1:NM_139243:exon13:c.C1643G:p.A548G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.557971296837	.	.	0.0002	0	8.66e-05	0	0	2.999e-05	0	0.0013	0.0001617	25	154602	rs575025883	0.0001	0.0001	6.131e-05	0.0002	0.0016	9.475e-05	8.956e-05	0.0014	0.0013	0	2.237e-05	0	2.525e-05	0	0.0003	7.199e-06	0.0001	0.0016	7.884e-05	7.875e-05	3.856e-05	0.0001	0.0023	4.496e-05	3.512e-05	0.0013	0.0010	0	0	0	0	0	0	0	1.47e-05	0	0.0023	0.0	0.91255	D	0.014	0.62352	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.73	0.94857	H	-3.57	0.94904	D	-3.47	0.67824	D	0.631	0.64733	1.046	0.98031	D	0.917	0.97237	D	10	0.5402536	0.63678	D	0.557971	0.95953	D	0.855	0.95544	.	.	0.7623545316	0.76018	0.4742541421825707	0.47344	0.61259746828	0.55850	0.494299292564	0.38036	T	0.872992	0.97272	D	-0.0610739	0.42738	T	0.126265	0.78648	D	0.782279253005981	0.45193	D	0.823018	0.48339	T	0.79842234	0.83805	0.761166	0.85889	0.79842234	0.83806	0.761166	0.85890	-7.926	0.60565	D	.	.	0.234	0.53363	B	.;.;.	.;.;.	4.748569	0.76647	26.6	0.99773576239481288	0.86088	0.94060	0.59991	D	AEFBI	0.564063	0.57100	D	0.801957106097556	0.86229	8.818605	0.743895710755954	0.85699	8.659521	0.977517064563439	0.29829	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.03	5.03	0.67015	6.000000	0.70344	7.606000	0.61733	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	17.543	0.87752	912	0.21483	Adenosine deaminase/editase|Adenosine deaminase/editase|Adenosine deaminase/editase;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	750.53	33	chr4	122429651	.	C	G	750.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.507;DP=256;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=0.635;SOR=0.758	GT:AD:DP:GQ:PL	0/1:48,34:82:99:761,0,1116	6	0	1	0
chr4	125316935	125316935	G	T	exonic	FAT4	.	nonsynonymous SNV	FAT4:NM_001291285:exon2:c.G524T:p.R175L,FAT4:NM_001291303:exon2:c.G524T:p.R175L,FAT4:NM_024582:exon2:c.G524T:p.R175L	Hennekam lymphangiectasia-lymphedema syndrome 2, Autosomal recessive;Van Maldergem syndrome 2, Autosomal recessive	423	1090	9	0	0	9	0.00411147	.	.	.	367869	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.237	0.0316835486821	0.0036	0.000998403	0.0030	0.0006	0.0017	0.0001	0.0014	0.0040	0.0045	0.0030	0.0028654	443	154602	rs143534324	0.0035	0.0035	0.0034	0.0035	0.0160	0.0034	0.0033	0.0133	0.0123	0.0006	0.0020	0.0057	0	0.0013	0.0160	0.0037	0.0034	0.0037	0.0025	0.0025	0.0028	0.0023	0.0042	0.0023	0.0022	0.0038	0.0036	0.0007	0	0.0012	0.0069	0	0.0008	0.0102	0.0042	0.0028	0.0027	0.286	0.15201	T	0.028	0.54934	D	0.999	0.77913	D	0.992	0.80445	D	0.003351	0.35069	U	0.000000	1	0.81001	D	1.525	0.38595	L	0.67	0.52187	T	-2.48	0.54059	N	0.831	0.82660	-0.8145	0.54275	T	0.193	0.54652	T	10	0.029752672	0.01101	T	0.031684	0.53708	D	0.237	0.54074	.	.	0.507288889495	0.50368	0.7345707470783442	0.73402	0.7122470772	0.61757	0.555426955223	0.46622	T	0.330726	0.70088	T	-0.17569	0.24380	T	-0.0259818	0.68634	D	0.0259580726104758	0.01401	T	0.937106	0.76374	D	0.30846947	0.53654	0.3555268	0.61079	0.30846947	0.53654	0.3555268	0.61078	-6.183	0.47785	T	.	.	0.219	0.44935	B	.	.	4.212454	0.63657	24.6	0.9973472720468588	0.83047	0.93516	0.58430	D	AEFDBCI	0.659604	0.63046	D	0.542376207711452	0.69618	5.382788	0.515163213172642	0.69008	5.299596	1.0	0.98316	0.446893	0.09132	0	0.563428	0.19063	0	0.503968	0.08637	0	0.581474	0.35302	0	.	.	5.11	5.11	0.69188	5.708000	0.68030	7.552000	0.60294	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.770000	0.36519	0.0:0.0:1.0:0.0	16.730	0.85292	932	0.16191	Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.010070	0.005051	0.019022	0.002924	0.000000	0.008621	0.006098	0.003788	0.07143	3339.44	34	chr4	125316935	.	G	T	3339.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.257;DP=542;ExcessHet=0;FS=3.64;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=2.07;SOR=0.493	GT:AD:DP:GQ:PL	0/1:108,128:236:99:3350,0,2673	6	0	1	0
chr4	125318694	125318694	G	T	exonic	FAT4	.	nonsynonymous SNV	FAT4:NM_001291285:exon2:c.G2283T:p.L761F,FAT4:NM_001291303:exon2:c.G2283T:p.L761F,FAT4:NM_024582:exon2:c.G2283T:p.L761F	Hennekam lymphangiectasia-lymphedema syndrome 2, Autosomal recessive;Van Maldergem syndrome 2, Autosomal recessive	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.0260745250407	.	.	8.29e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs749643997	1.368e-06	1.368e-06	2.723e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.014012	0.28663	U	0.000000	0.999664	0.48141	D	1.505	0.38159	L	0.44	0.56609	T	-3.06	0.63090	D	0.8	0.79599	-0.7940	0.55496	T	0.224	0.58805	T	10	0.8532305	0.84508	D	0.026075	0.49013	D	0.337	0.65913	0.739	0.87147	0.403974779092	0.40011	0.473600982017976	0.47279	0.676578416316	0.59777	0.659616053104	0.61355	T	0.371872	0.73616	T	-0.0147627	0.49597	T	-0.258982	0.48925	T	0.908304810523987	0.56285	D	0.906909	0.67118	D	0.19165024	0.40801	0.1825334	0.41186	0.19165024	0.40801	0.1825334	0.41185	-4.536	0.31356	T	.	.	0.664	0.71501	P	.	.	2.840466	0.37476	20.5	0.99842508389605344	0.92316	0.85186	0.44297	D	AEFBCI	0.430682	0.49328	N	0.252380453548935	0.53756	3.543215	0.170208199170942	0.48221	3.041133	0.999839725349561	0.43792	0.542737	0.22433	0	0.573888	0.26702	0	0.563428	0.18855	0	0.638787	0.57140	0	.	.	5.48	1.79	0.23992	1.388000	0.34048	1.218000	0.24956	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.871000	0.41478	0.2719:0.2426:0.4855:0.0	5.511	0.16169	932	0.16191	Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1580.44	34	chr4	125318694	.	G	T	1580.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.442;DP=605;ExcessHet=0;FS=2.187;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-1.975;SOR=0.633	GT:AD:DP:GQ:PL	0/0:107,0:107:99:0,120,1800	6	0	1	0
chr4	125319813	125319813	A	T	exonic	FAT4	.	nonsynonymous SNV	FAT4:NM_001291285:exon2:c.A3402T:p.E1134D,FAT4:NM_001291303:exon2:c.A3402T:p.E1134D,FAT4:NM_024582:exon2:c.A3402T:p.E1134D	Hennekam lymphangiectasia-lymphedema syndrome 2, Autosomal recessive;Van Maldergem syndrome 2, Autosomal recessive	428	1067	26	1	0	28	0.012951	.	.	.	367549	not_provided|FAT4-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.173	0.0144541808544	0.0010	0.00179712	0.0019	0	0.0021	0	0	0.0021	0.0011	0.0038	0.001727	267	154602	rs144768563	0.0013	0.0013	0.0012	0.0014	0.0075	0.0012	0.0012	0.0057	0.0051	2.987e-05	0.0011	0.0137	0	9.361e-05	0.0075	0.0009	0.0021	0.0033	0.0012	0.0012	0.0013	0.0011	0.0017	0.0011	0.0010	0.0012	0.0011	7.216e-05	0	0.0017	0.0144	0	9.413e-05	0.0034	0.0014	0.0019	0.0006	0.116	0.28395	T	0.0	0.92824	D	0.998	0.73220	D	0.996	0.84481	D	0.003311	0.35125	U	0.000000	0.907685	0.36329	D	1.66	0.42513	L	0.69	0.51714	T	-1.63	0.39119	N	0.353	0.39457	-0.9439	0.41992	T	0.135	0.44991	T	10	0.010653734	0.00236	T	0.014454	0.34575	T	0.173	0.43840	0.38	0.39645	0.340919117937	0.33698	0.2810701322154265	0.28020	0.174844085713	0.19684	0.483602702618	0.36553	T	0.113713	0.43096	T	-0.444686	0.01214	T	-0.412375	0.31951	T	0.0312035878340865	0.02178	T	0.777722	0.41106	T	0.11456356	0.27046	0.1467224	0.34749	0.11456356	0.27045	0.1467224	0.34748	-3.627	0.18248	T	.	.	0.118	0.23952	B	.	.	3.191923	0.43374	21.7	0.99792539538174374	0.87839	0.68613	0.33868	D	AEFDBCI	0.222827	0.34727	N	0.270356902153319	0.54652	3.630344	0.230270769850431	0.51534	3.335199	0.99921897422782	0.38775	0.627647	0.40530	0	0.573888	0.26702	0	0.577349	0.28860	0	0.657601	0.63696	0	.	.	4.87	2.35	0.28166	2.750000	0.47177	1.545000	0.27254	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.990000	0.65344	0.7263:0.1421:0.1316:0.0	6.942	0.23680	932	0.16191	Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.000000	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1306.44	73	chr4	125319813	.	A	T	1306.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.689;DP=640;ExcessHet=0;FS=2.655;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-0.378;SOR=0.741	GT:AD:DP:GQ:PL	0/0:129,0:129:99:0,120,1800	6	0	1	0
chr4	125490298	125490298	T	G	exonic	FAT4	.	nonsynonymous SNV	FAT4:NM_001291285:exon18:c.T13479G:p.S4493R,FAT4:NM_001291303:exon18:c.T13482G:p.S4494R,FAT4:NM_024582:exon18:c.T13476G:p.S4492R	Hennekam lymphangiectasia-lymphedema syndrome 2, Autosomal recessive;Van Maldergem syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.028878451015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.012	0.63918	D	0.435	0.38591	B	0.077	0.34752	B	0.282571	0.14918	U	0.497540	1	0.08975	N	0.89	0.21648	L	-0.81	0.75670	T	-1.02	0.26843	N	0.479	0.55193	-0.9374	0.43025	T	0.177	0.52209	T	10	0.20973596	0.37346	T	0.028878	0.51484	D	0.168	0.42943	0.363	0.36874	0.680691844653	0.67797	0.7484095901153498	0.74786	0.180060473032	0.20253	0.487993270159	0.37161	T	0.06707	0.33106	T	-0.0382556	0.46207	T	-0.292728	0.45487	T	0.130325759492081	0.15412	T	0.734627	0.35069	T	0.06629159	0.14250	0.06609071	0.13489	0.06629159	0.14250	0.06609071	0.13489	-4.621	0.32806	T	.	.	0.147	0.32372	B	.;.	.;.	1.123231	0.15092	11.58	0.9251781910813146	0.21958	0.12059	0.17034	N	AEFBI	0.137504	0.25850	N	-1.12717482834799	0.06164	0.2830062	-1.18170012123932	0.06215	0.2984784	0.00325154288859847	0.10018	0.706548	0.73137	0	0.588015	0.36545	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.17	-0.969	0.09783	-0.143000	0.10278	-4.549000	0.02100	-0.249000	0.07183	0.000000	0.06391	0.000000	0.08366	0.604000	0.31488	0.0:0.6024:0.0:0.3976	10.998	0.46804	884	0.28482	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	65.44	46	chr4	125490298	.	T	G	65.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.524;DP=334;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.524;SOR=1.179	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,111,1709	6	0	1	0
chr4	127714045	127714045	G	C	exonic	INTU	.	nonsynonymous SNV	INTU:NM_015693:exon15:c.G2669C:p.W890S	.	.	.	.	.	.	.	.	.	.	.	1516944	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.631	0.0207952334296	0.0002	0.000199681	0.0005	0	0.0002	0	0.0012	0.0006	0	0.0010	0.000511	79	154602	rs187393671	0.0006	0.0006	0.0005	0.0006	0.0018	0.0005	0.0005	0.0015	0.0014	2.989e-05	0.0002	0.0001	0	0.0017	0.0003	0.0005	0.0004	0.0018	0.0004	0.0004	0.0004	0.0005	0.0006	0.0004	0.0003	0.0005	0.0004	2.408e-05	0	6.536e-05	0.0006	0	0.0017	0	0.0006	0	0.0006	0.065	0.36310	T	0.0	0.92824	D	0.936	0.52359	P	0.618	0.51338	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.535	0.73915	M	.	.	.	-3.73	0.70920	D	0.595	0.61426	-0.5762	0.65768	T	0.249	0.61878	T	9	0.12431356	0.23609	T	0.020795	0.43464	T	0.631	0.85821	.	.	0.552085806491	0.54867	0.5363066851238923	0.53555	0.460401629699	0.45600	0.637412548065	0.58196	T	0.726604	0.92314	D	-0.0881323	0.38384	T	0.0600944	0.74250	D	0.108235877057239	0.13239	T	0.918108	0.70532	D	0.65851605	0.75820	0.59255475	0.76353	0.65851605	0.75821	0.59255475	0.76354	-7.276	0.56024	T	0.5589888437469488	0.62689	0.202	0.42592	B	.	.	4.885491	0.80157	27.3	0.98701500705482337	0.44910	0.98894	0.88280	D	AEFI	0.856391	0.77362	D	0.588989333186188	0.72486	5.813449	0.586728715859561	0.73989	6.061236	0.999992283802999	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.2	4.2	0.48814	8.970000	0.92989	9.748000	0.81461	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.755	0.85358	897	0.25382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	710.53	36	chr4	127714045	.	G	C	710.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.796;DP=250;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=0.705;SOR=0.723	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	6	0	1	0
chr4	127885807	127885807	G	A	exonic	PLK4	.	nonsynonymous SNV	PLK4:NM_001190799:exon4:c.G341A:p.R114H,PLK4:NM_001190801:exon5:c.G314A:p.R105H,PLK4:NM_014264:exon5:c.G437A:p.R146H	Microcephaly and chorioretinopathy, autosomal recessive, 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	764321	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.106	0.0101030664209	0.0002	.	0.0003	0	0.0002	0	0.0002	0.0004	0	0	0.0002135	33	154602	rs35232579	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0	0	0	0	9.36e-05	0	0.0002	0.0001	3.478e-05	9.213e-05	9.198e-05	5.144e-05	0.0001	0.0002	5.536e-05	4.371e-05	0.0001	7.896e-05	2.418e-05	0	6.555e-05	0	0	0	0	0.0002	0	0	0.036	0.47745	D	0.107	0.44302	T	0.211	0.29987	B	0.035	0.22741	B	0.000093	0.51296	D	0.197045	0.999989	0.19363	N	0.81	0.20779	L	-0.17	0.65563	T	-2.3	0.53736	N	0.154	0.28264	-0.9588	0.39405	T	0.123	0.42589	T	10	0.094498664	0.16807	T	0.010103	0.26235	T	0.106	0.30130	.	.	0.460956337413	0.45718	0.4043576593240521	0.40351	0.127094639181	0.14323	0.569076657295	0.48546	T	0.255733	0.62656	T	-0.302408	0.08434	T	-0.356009	0.38516	T	0.0644061899794637	0.07842	T	0.881912	0.72857	D	0.228681	0.45592	0.16834244	0.38787	0.2819666	0.51237	0.19482009	0.43125	-8.063	0.63625	D	.	.	0.076	0.16843	B	.;.;.;.;.	.;.;.;.;.	2.635046	0.34271	19.58	0.98772518666688947	0.46002	0.74575	0.36485	D	AEFDBCI	0.178210	0.30547	N	-0.348767684420525	0.27317	1.497802	-0.220478993054386	0.30802	1.737519	0.999952857833047	0.48110	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.03	4.32	0.50899	1.763000	0.38090	1.252000	0.25176	0.676000	0.76740	1.000000	0.71638	0.613000	0.25778	0.997000	0.79791	0.2028:0.0:0.7972:0.0	10.671	0.44950	838	0.37812	Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	1715.44	34	chr4	127885807	.	G	A	1715.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.121;DP=347;ExcessHet=0;FS=0.583;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=-0.015;SOR=0.612	GT:AD:DP:GQ:PL	0/1:87,78:165:99:1726,0,2013	6	0	1	0
chr4	127943985	127943985	G	A	exonic	MFSD8	.	nonsynonymous SNV	MFSD8:NM_001363520:exon4:c.C206T:p.P69L,MFSD8:NM_001363521:exon4:c.C206T:p.P69L,MFSD8:NM_001371590:exon4:c.C71T:p.P24L,MFSD8:NM_001371591:exon4:c.C206T:p.P69L,MFSD8:NM_001371592:exon4:c.C206T:p.P69L,MFSD8:NM_001371593:exon4:c.C206T:p.P69L,MFSD8:NM_001371594:exon4:c.C206T:p.P69L,MFSD8:NM_001371595:exon4:c.C71T:p.P24L,MFSD8:NM_001371596:exon4:c.C206T:p.P69L,MFSD8:NM_152778:exon5:c.C206T:p.P69L	Ceroid lipofuscinosis, neuronal, 7, Autosomal recessive;Macular dystrophy with central cone involvement, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	201757	MFSD8-related_disorder|Inborn_genetic_diseases|not_provided|Neuronal_ceroid_lipofuscinosis_7	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0012588,MedGen:C1838571,OMIM:610951,Orphanet:168491,Orphanet:228366	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.201	0.0203582627539	0.0002	0.000399361	0.0003	9.814e-05	0	0.0028	0	9.019e-05	0	0.0001	0.0002329	36	154602	rs147750747	0.0002	0.0002	0.0002	0.0001	0.0037	0.0001	0.0001	0.0032	0.0030	0	2.236e-05	0	0.0037	3.745e-05	0	2.698e-05	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0035	0.0001	9.698e-05	0.0022	0.0019	0	0	0	0	0.0035	0	0	7.351e-05	0.0005	0.0002	0.062	0.37966	T	0.294	0.20745	T	0.287	0.32229	B	0.052	0.29270	B	0.623601	0.05770	N	1.172490	0.999999	0.08975	N	2.05	0.56469	M	0.9	0.45248	T	-6.13	0.90100	D	0.065	0.04913	-0.9498	0.41006	T	0.115	0.40740	T	10	0.015557677	0.00326	T	0.020358	0.42939	T	0.201	0.48592	.	.	0.117506650769	0.11410	0.24713592090887285	0.24627	0.0965671410047	0.10902	0.321701705456	0.13679	T	0.461354	0.82438	T	-0.522351	0.00426	T	-0.525519	0.19737	T	0.0585141309670721	0.06932	T	0.829317	0.50622	T	0.12100013	0.28462	0.21191187	0.45639	0.111686565	0.26391	0.18197037	0.41093	-8.17	0.62223	D	.	.	0.123	0.41738	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.031836	0.14117	10.69	0.86057409408536634	0.16285	0.06613	0.12628	N	AEFBI	0.074591	0.14955	N	-0.773511382421151	0.14002	0.6940768	-0.833749116947097	0.13678	0.7109004	0.108693537299927	0.16589	0.732398	0.92422	0	0.724815	0.89359	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.36	-1.7	0.07721	-0.028000	0.12299	0.177000	0.15587	-0.114000	0.14653	0.009000	0.18154	0.032000	0.21310	0.561000	0.30436	0.0:0.0704:0.4933:0.4363	11.653	0.50559	862	0.33134	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.000000	0.07143	205.83	26	chr4	127943985	.	G	A	205.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.49;DP=181;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=0.927;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1105	6	0	1	0
chr4	139704055	139704055	G	T	exonic	MGST2	.	nonsynonymous SNV	MGST2:NM_001204367:exon4:c.G147T:p.L49F,MGST2:NM_001204366:exon5:c.G351T:p.L117F,MGST2:NM_002413:exon5:c.G351T:p.L117F	.	428	1086	7	0	1	8	0.00321248	.	.	.	2439474	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.104	0.0145783744024	7.7e-05	.	2.471e-05	0	0	0	0	4.495e-05	0	0	1.94e-05	3	154602	rs370504587	8.209e-06	8.209e-06	8.167e-06	8.25e-06	0.0005	4.38e-06	3.46e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	7.194e-06	1.656e-05	0	1.315e-05	1.314e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.098	0.30800	T	0.19	0.28482	T	0.379	0.34321	B	0.27	0.39872	B	0.210179	0.16385	N	0.560310	1	0.08975	N	2.3	0.65703	M	0.27	0.59176	T	-2.53	0.54864	D	0.241	0.27316	-0.9886	0.32953	T	0.143	0.46569	T	10	0.14486289	0.27487	T	0.014578	0.34790	T	0.104	0.29647	0.699	0.83592	0.344017737713	0.34012	0.37427402204792193	0.37341	0.15587858973	0.17597	0.303452223539	0.10918	T	0.105723	0.41645	T	-0.120603	0.33026	T	-0.395529	0.33905	T	0.409040331840515	0.29282	T	0.634936	0.24909	T	0.12815708	0.29969	0.19171971	0.42646	0.12815708	0.29968	0.19171971	0.42645	-3.595	0.17785	T	.	.	0.079	0.07507	B	.;.	.;.	2.154288	0.27440	17.46	0.99476056888722708	0.66633	0.12572	0.17350	N	AEFBI	0.427993	0.49171	N	-0.597839929637607	0.19010	0.9915919	-0.632209138781093	0.18667	0.9982557	0.924940085206071	0.26797	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.96	3.22	0.36041	0.588000	0.23626	2.150000	0.30904	0.596000	0.33519	0.011000	0.18532	0.989000	0.31174	0.909000	0.44452	0.0759:0.2753:0.5068:0.1421	4.947	0.13343	954	0.10045	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	70.44	34	chr4	139704055	.	G	T	70.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=0.842;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1165	6	0	1	0
chr4	139889910	139889927	TGCTGCTGCTGCTGCTGC	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon2:c.1509_1526del:p.Q505_Q510del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1305950655	0.0004	0.0004	0.0004	0.0004	0.0021	0.0004	0.0004	0.0012	0.0010	0.0006	0.0005	0.0048	0.0006	3.816e-05	0.0021	0.0003	0.0011	0.0005	0.0017	0.0016	0.0017	0.0017	0.0034	0.0014	0.0013	0.0024	0.0020	0.0006	0	0.0009	0.0284	0.0030	0	0.0116	0.0034	0.0062	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	3009.95	73	chr4	139889909	.	TTGCTGCTGCTGCTGCTGC	T	3009.95	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.094;DP=627;ExcessHet=0;FS=2.512;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=24.47;ReadPosRankSum=1.11;SOR=0.49	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:66:99:.:.:2253,2331,2611:.	5	0	1	1
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1667.34	47	chr4	140563137	.	C	G	1667.34	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.692;DP=408;ExcessHet=11.5949;FS=373.141;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=4.61;ReadPosRankSum=-0.677;SOR=9.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:57,24:81:99:.:.:289,0,1656:.	0	0	6	1
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1464.34	47	chr4	140563138	.	C	G	1464.34	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.877;DP=414;ExcessHet=11.5949;FS=372.265;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=4.23;ReadPosRankSum=-0.457;SOR=9.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:57,14:80:99:.:.:186,0,1708:.	0	0	6	1
chr4	145823440	145823440	C	T	exonic	ZNF827	.	nonsynonymous SNV	ZNF827:NM_001306215:exon8:c.G2365A:p.G789R,ZNF827:NM_178835:exon8:c.G2365A:p.G789R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0230671324811	.	.	8.237e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs753379469	6.164e-06	6.156e-06	8.178e-06	4.13e-06	0.0002	2.9e-06	2.1e-06	2.62e-06	1.69e-06	0	0	0	2.526e-05	0	0.0002	6.302e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.001	0.83351	D	0.63	0.65571	P	0.082	0.52168	B	0.036530	0.24511	N	0.480428	0.806494	0.29052	N	1.61	0.41143	L	3.27	0.07353	T	0.35	0.04306	N	0.546	0.73645	-1.0604	0.11656	T	0.017	0.06855	T	10	0.2452417	0.41769	T	0.023067	0.46009	T	0.041	0.10877	0.435	0.48664	0.043077524339	0.03247	0.5518396132785052	0.55109	1.42638088576	0.85728	0.605828940868	0.53727	T	0.024444	0.18471	T	-0.308489	0.07881	T	-0.511772	0.21132	T	0.620351135730743	0.37220	D	0.935006	0.75597	D	0.09319128	0.21881	0.08509722	0.19625	0.09319128	0.21881	0.08509722	0.19624	-2.888	0.09203	T	.	.	0.173	0.37988	B	.;.;.	.;.;.	4.118141	0.61538	24.3	0.99781285735309655	0.86780	0.72143	0.35323	D	AEFBI	0.074897	0.15026	N	-0.0696789817962693	0.38729	2.272745	0.00119102360204635	0.39772	2.363221	0.995613964389897	0.34224	0.706298	0.61202	0	0.71359	0.82159	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.42	2.61	0.30255	2.377000	0.43955	3.989000	0.40972	0.549000	0.26987	1.000000	0.71638	0.999000	0.35428	0.930000	0.46718	0.1458:0.6901:0.0:0.1641	6.712	0.22469	228	0.91137	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	2730.27	34	chr4	145823440	.	C	T	2730.27	.	AC=2;AF=0.143;AN=14;DP=272;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=29.05;SOR=0.736	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1021	6	1	0	0
chr4	147657807	147657807	C	T	exonic	PRMT9	.	nonsynonymous SNV	PRMT9:NM_001350143:exon6:c.G400A:p.V134I,PRMT9:NM_001304458:exon7:c.G976A:p.V326I,PRMT9:NM_001350141:exon7:c.G247A:p.V83I,PRMT9:NM_001350144:exon7:c.G91A:p.V31I,PRMT9:NM_138364:exon8:c.G1315A:p.V439I,PRMT9:NM_001350142:exon9:c.G976A:p.V326I	.	.	.	.	.	.	.	.	.	.	.	2209829	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.156	0.0366883680571	.	0.000199681	1.659e-05	0	0	0	0	1.507e-05	0	6.116e-05	1.94e-05	3	154602	rs564517370	1.984e-05	1.984e-05	1.634e-05	2.338e-05	0.0002	1.392e-05	1.204e-05	1.214e-05	1.03e-05	2.988e-05	4.473e-05	0	0	0	0.0002	1.889e-05	1.656e-05	3.478e-05	5.991e-05	5.915e-05	6.494e-05	5.463e-05	0.0002	3.114e-05	2.236e-05	1.978e-05	1.129e-05	7.367e-05	0	6.679e-05	0	0.0002	0	0	5.907e-05	0	0	0.178	0.22138	T	0.06	0.45744	T	0.97	0.56973	D	0.367	0.43430	B	0.000569	0.43250	N	0.197056	0.999794	0.81001	D	1.655	0.42436	L	2.06	0.20523	T	-0.27	0.11366	N	0.159	0.16586	-1.1044	0.03598	T	0.057	0.24092	T	10	0.10715416	0.19891	T	0.036688	0.57148	D	0.156	0.40720	0.518	0.61915	0.239305524855	0.23518	0.22830777700167287	0.22745	0.185613186757	0.20870	0.287114471197	0.08504	T	0.028348	0.20554	T	-0.343147	0.05173	T	-0.549156	0.17408	T	0.108883962035179	0.13307	T	0.662834	0.27173	T	0.072720885	0.16198	0.06158244	0.11916	0.072720885	0.16198	0.06158244	0.11916	-5.086	0.37759	T	.	.	0.082	0.08657	B	.	.	0.937194	0.13128	9.629	0.98931283039178686	0.48750	0.91131	0.52921	D	AEFBI	0.250832	0.37081	N	-0.145276273974169	0.35435	2.035363	-0.153199406306991	0.33286	1.90242	0.999421963342821	0.39630	0.651	0.46895	0	0.653731	0.59785	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.61	3.91	0.44383	2.398000	0.44140	0.845000	0.22080	-0.858000	0.02657	0.971000	0.34370	0.068000	0.22166	0.455000	0.28006	0.0:0.8652:0.0:0.1348	12.592	0.55803	833	0.38804	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	306.83	21	chr4	147657807	.	C	T	306.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.505;DP=164;ExcessHet=0;FS=1.55;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=1.62;SOR=0.394	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,986	6	0	1	0
chr4	152943203	152943203	G	A	exonic	FHDC1	.	nonsynonymous SNV	FHDC1:NM_033393:exon1:c.G146A:p.C49Y,FHDC1:NM_001371116:exon2:c.G146A:p.C49Y	.	320	1146	47	9	0	65	0.0275774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	0.0016	0.00519169	0.0052	0.0004	0.0026	0	0.0002	0.0031	0.0092	0.0229	0.0045278	700	154602	rs144913043	0.0030	0.0030	0.0022	0.0038	0.0266	0.0029	0.0029	0.0232	0.0218	0.0004	0.0025	0.0049	0	0.0002	0.0266	0.0016	0.0042	0.0227	0.0023	0.0024	0.0019	0.0027	0.0216	0.0021	0.0020	0.0182	0.0169	0.0002	0	0.0036	0.0035	0	0	0.0274	0.0023	0.0053	0.0216	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.008757	0.01217	N	2.983030	1	0.08975	N	-1.87	0.00254	N	1.53	0.30401	T	0.76	0.01978	N	0.11	0.11054	-0.9921	0.32063	T	0.023	0.09696	T	10	0.0022506118	0.00033	T	.	.	.	0.010	0.01040	.	.	0.0920862733494	0.08535	0.15457957265891106	0.15378	0.196178703926	0.21972	0.452522158623	0.32288	T	0.001957	0.01365	T	-0.687484	0.00043	T	-0.74338	0.03750	T	0.0118901831796126	0.00185	T	0.285571	0.05082	T	0.021892782	0.00818	0.041451093	0.04714	0.021892782	0.00818	0.041451093	0.04714	-4.911	0.35858	T	.	.	0.061	0.01408	B	.;.	.;.	-1.399194	0.00361	0.007	0.15099306828571379	0.00357	0.00708	0.02999	N	AEFDBI	0.019336	0.00662	N	-1.87631002830649	0.00384	0.0165022	-1.97879846972427	0.00339	0.01498587	0.999999985020185	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	4.51	-9.02	0.00635	-1.940000	0.01634	-0.165000	0.11284	-0.102000	0.15922	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1062:0.235:0.1374:0.5215	3.403	0.06904	870	0.31527	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019134	0.010101	0.017663	0.020468	0.000000	0.000000	0.018293	0.037879	0.1429	1308.24	34	chr4	152943203	.	G	A	1308.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.192;DP=304;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=0.967;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1409	5	0	2	0
chr4	152974745	152974745	G	A	exonic	FHDC1	.	nonsynonymous SNV	FHDC1:NM_033393:exon11:c.G1454A:p.R485H,FHDC1:NM_001371116:exon12:c.G1454A:p.R485H	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.0115234191254	0.0003	0.00219649	0.0003	0.0024	0.0004	0	0	7.914e-05	0.0013	0.0001	0.0003881	60	154602	rs113260881	0.0002	0.0002	0.0002	0.0002	0.0049	0.0002	0.0002	0.0043	0.0041	0.0049	0.0003	0	0	0	0.0032	7.316e-05	0.0010	5.592e-05	0.0007	0.0007	0.0008	0.0006	0.0021	0.0006	0.0005	0.0018	0.0016	0.0021	0	0.0004	0	0	0	0	4.411e-05	0.0024	0	0.41	0.10148	T	0.477	0.12002	T	0.018	0.17786	B	0.003	0.08700	B	0.463155	0.12367	N	0.797608	1	0.08975	N	1.14	0.29013	L	1.18	0.37746	T	-2.0	0.46146	N	0.046	0.01825	-1.0500	0.14397	T	0.038	0.16333	T	10	0.0039759874	0.00077	T	0.011523	0.29227	T	0.048	0.13305	.	.	0.181679512989	0.17746	0.2209745634396166	0.22012	0.146473799045	0.16529	0.205158606172	0.00622	T	0.028307	0.20534	T	-0.604513	0.00137	T	-0.646044	0.09234	T	0.00769061153382025	0.00090	T	0.777722	0.41106	T	0.040168256	0.05683	0.041759834	0.04819	0.040168256	0.05683	0.041759834	0.04819	-4.566	0.31741	T	.	.	0.071	0.03964	B	.;.	.;.	1.795033	0.22820	15.77	0.95088083620127639	0.26149	0.12531	0.17326	N	AEFDBCI	0.115285	0.22673	N	-0.740910940613436	0.14882	0.7451478	-0.735560542972974	0.16078	0.8488278	0.999951355834548	0.48110	0.634777	0.41761	0	0.59043	0.45803	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	5.75	1.06	0.19341	1.130000	0.31007	1.966000	0.29963	0.676000	0.76740	0.004000	0.16614	0.007000	0.19602	0.980000	0.58198	0.4011:0.0:0.5989:0.0	10.09	0.41614	869	0.31655	Formin, FH2 domain;Formin, FH2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006552	0.005051	0.013587	0.002924	0.050000	0.000000	0.000000	0.000000	0.07143	398.49	31	chr4	152974745	.	G	A	398.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.223;DP=199;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.099;SOR=0.804	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1390	6	0	1	0
chr4	153397306	153397307	TG	-	exonic	MND1	.	stopgain	MND1:NM_032117:exon6:c.439_440del:p.C147*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1635.59	33	chr4	153397305	.	CTG	C	1635.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.805;DP=267;ExcessHet=0;FS=0.779;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.4;ReadPosRankSum=-1.233;SOR=0.57	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,108,1171:.	6	0	1	0
chr4	153703274	153703277	CTTT	-	exonic	TLR2	.	frameshift deletion	TLR2:NM_001318789:exon3:c.367_370del:p.S124Lfs*2,TLR2:NM_001318790:exon3:c.367_370del:p.S124Lfs*2,TLR2:NM_001318791:exon3:c.367_370del:p.S124Lfs*2,TLR2:NM_001318793:exon3:c.367_370del:p.S124Lfs*2,TLR2:NM_001318795:exon3:c.367_370del:p.S124Lfs*2,TLR2:NM_001318796:exon3:c.367_370del:p.S124Lfs*2,TLR2:NM_003264:exon3:c.367_370del:p.S124Lfs*2,TLR2:NM_001318787:exon4:c.367_370del:p.S124Lfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	8.317e-06	0	0	0	0	1.509e-05	0	0	3.84e-05	1	26028	rs767943819	6.846e-07	6.841e-07	1.362e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	818.23	43	chr4	153703273	.	CCTTT	C	818.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.65;DP=274;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-2.551;SOR=0.809	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	1
chr4	154235866	154235866	T	A	exonic	DCHS2	.	nonsynonymous SNV	DCHS2:NM_001358235:exon20:c.A8786T:p.N2929I	.	10	1510	2	0	0	2	0.000661813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.604	0.0511056677221	.	0.000199681	0.0001	0	8.649e-05	0	0	8.995e-05	0.0011	0.0006	0.0001229	19	154602	rs537787483	9.441e-05	9.44e-05	7.215e-05	0.0001	0.0008	8.135e-05	7.651e-05	0.0007	0.0006	0	0	0	0	0	0.0005	4.766e-05	0.0001	0.0008	3.94e-05	3.937e-05	0	8.057e-05	0.0010	1.714e-05	1.129e-05	0.0004	0.0003	0	0	0	0	0	0	0	0	0.0005	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999987	0.54805	D	.	.	.	.	.	.	.	.	.	.	.	0.269	0.87060	D	0.540	0.83013	D	10	0.6054327	0.67147	D	0.051106	0.64522	D	0.604	0.84398	.	.	.	.	0.4922295974068371	0.49143	0.46716595594	0.46101	0.537127912045	0.44040	T	.	.	.	-0.0244563	0.48217	T	0.102939	0.77102	D	0.881198525428772	0.53124	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.760	0.75478	P	.	.	4.570163	0.72093	25.8	0.99158896619805648	0.54043	0.99144	0.91875	D	AEI	0.916970	0.88391	D	0.847184014184848	0.88948	9.774173	0.761991556586169	0.87050	9.09017	0.999924202383852	0.46280	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.04	6.04	0.98025	8.017000	0.88732	7.892000	0.73106	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.588	0.84597	744	0.52588	Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1738.63	43	chr4	154235866	.	T	A	1738.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.487;DP=342;ExcessHet=0;FS=4.868;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-0.687;SOR=0.507	GT:AD:DP:GQ:PL	0/1:78,72:150:99:1749,0,1896	6	0	1	0
chr4	154240817	154240817	A	G	exonic	DCHS2	.	nonsynonymous SNV	DCHS2:NM_001358235:exon18:c.T7079C:p.L2360S	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0074114254101	.	.	0.0001	0	0	0	0	0.0002	0.0011	0	0.0001164	18	154602	rs549518705	0.0001	0.0001	0.0001	0.0001	0.0023	9.608e-05	9.087e-05	0.0013	0.0011	0.0002	0.0004	0.0002	0	0	0.0023	9.625e-05	0.0002	2.319e-05	0.0001	0.0001	0.0001	0.0001	0.0002	8.16e-05	6.718e-05	0.0001	7.893e-05	0	0	0.0001	0	0	0	0.0136	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.661962	0.10419	N	0.827038	0.986281	0.24631	N	.	.	.	.	.	.	.	.	.	.	.	-1.0718	0.09022	T	0.082	0.32295	T	10	0.09973335	0.18118	T	0.007411	0.19657	T	0.050	0.13987	.	.	.	.	0.08087195601267189	0.08022	0.35636978624	0.37383	0.325476944447	0.14250	T	.	.	.	-0.364643	0.03874	T	-0.464001	0.26165	T	0.31317737698555	0.25544	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.18869	B	.	.	2.289873	0.29290	18.07	0.97248493084266829	0.33029	0.56576	0.30152	D	AEFDGI	0.080341	0.16241	N	-0.175265265011755	0.34167	1.946926	-0.011088863064998	0.39213	2.321622	0.0912743737151783	0.16130	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.96	3.63	0.40741	2.133000	0.41716	4.690000	0.44360	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.656:0.0:0.344:0.0	6.399	0.20831	744	0.52588	Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.005435	0.002924	0.000000	0.008621	0.000000	0.000000	0.07143	1165.63	34	chr4	154240817	.	A	G	1165.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.882;DP=267;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-1.69;SOR=0.61	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,111,1665	6	0	1	0
chr4	154328192	154328192	C	T	exonic	DCHS2	.	nonsynonymous SNV	DCHS2:NM_001142552:exon7:c.G3919A:p.V1307I,DCHS2:NM_001358235:exon7:c.G3919A:p.V1307I	.	.	.	.	.	.	.	.	0.9987	0.774	.	3246741	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.047	.	.	.	2.487e-05	0	0	0	0	4.526e-05	0	0	1.94e-05	3	154602	rs760885306	8.273e-06	8.209e-06	4.113e-06	1.248e-05	0.0017	4.41e-06	3.49e-06	0.0009	0.0007	0	0	0	0	0	0.0017	0	3.333e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.29823	T	0.026	0.55759	D	.	.	.	.	.	.	0.001035	0.40562	N	0.105398	0.960153	0.38165	D	.	.	.	0.01	0.62459	T	-0.72	0.20358	N	0.199	0.21969	-0.9470	0.41481	T	0.152	0.48101	T	10	0.12703457	0.24155	T	0.011467	0.29127	T	0.047	0.12962	.	.	0.419957187557	0.41612	0.10235240115750502	0.10165	0.224924864697	0.25034	0.314664244652	0.12612	T	.	.	.	-0.19897	0.20952	T	-0.508097	0.21510	T	0.128782391548157	0.15269	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.21163	B	.;.	.;.	3.772985	0.54204	23.5	0.99317111012899228	0.59241	0.88996	0.49204	D	AEFDI	0.343500	0.43929	N	0.00823798597154378	0.42228	2.540509	0.211697094626493	0.50495	3.240975	0.999895284080117	0.45129	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.91	5.91	0.95240	2.864000	0.48103	4.896000	0.45813	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.9253:0.0:0.0747	12.740	0.56623	742	0.52873	Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	236.63	41	chr4	154328192	.	C	T	236.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.021;DP=199;ExcessHet=0;FS=1.345;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.77;ReadPosRankSum=-1.57;SOR=0.446	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1215	6	0	1	0
chr4	154584222	154584224	AAG	-	exonic	FGA	.	nonframeshift deletion	FGA:NM_000508:exon6:c.2501_2503del:p.P834_Y835delinsH	Afibrinogenemia, congenital, Autosomal recessive;Amyloidosis, familial visceral, Autosomal dominant;Dysfibrinogenemia, congenital;Hypodysfibrinogenemia, congenital	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0	0	0.0017	0.0001811	28	154602	rs759551815	0.0001	0.0001	7.081e-05	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	0	0	0	0	0	0.0002	2.699e-06	4.969e-05	0.0021	5.429e-05	5.339e-05	3.976e-05	6.952e-05	0.0017	2.631e-05	1.883e-05	0.0009	0.0006	0	0	0	0	0	0	0	0	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	1166.4	33	chr4	154584221	.	TAAG	T	1166.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.757;DP=241;ExcessHet=0;FS=4.237;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=23.8;ReadPosRankSum=0.199;SOR=0.278	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1008	6	0	1	0
chr4	154612018	154612018	T	C	exonic	FGG	.	nonsynonymous SNV	FGG:NM_000509:exon3:c.A307G:p.N103D,FGG:NM_021870:exon3:c.A307G:p.N103D	Afibrinogenemia, congenital, Autosomal recessive;Dysfibrinogenemia, congenital;Hypodysfibrinogenemia;Hypofibrinogenemia, congenital, Autosomal recessive	.	.	.	.	.	.	.	0.0002	0.108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	0.0638422850705	.	.	4.158e-05	0	0	0	0	3.024e-05	0	0.0002	3.23e-05	5	154602	rs746529955	8.901e-06	9.577e-06	5.45e-06	1.239e-05	0.0002	4.97e-06	3.83e-06	2.998e-05	2.04e-05	0	0	0	0	0	0.0002	3.598e-06	3.315e-05	6.965e-05	6.566e-06	6.561e-06	0	1.343e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.743	0.08286	T	0.487	0.16717	T	0.0	0.02946	B	0.001	0.04355	B	0.750328	0.06480	N	1.111250	1	0.81001	D	0.785	0.19527	N	-1.62	0.82347	D	-0.89	0.24026	N	0.199	0.21969	-0.7640	0.57187	T	0.301	0.67232	T	10	0.101062	0.18442	T	0.063842	0.69093	D	0.288	0.60691	0.587	0.71497	0.737229180969	0.73487	0.24206605948706808	0.24120	0.237480901641	0.26287	0.305860936642	0.11281	T	0.341896	0.71074	T	-0.36682	0.03758	T	-0.52802	0.19484	T	0.0260352868325205	0.01411	T	0.553945	0.19167	T	0.1605959	0.36012	0.08130203	0.18466	0.1605959	0.36011	0.08130203	0.18466	-3.464	0.15931	T	.	.	0.074	0.05188	B	.;.;.;.	.;.;.;.	1.234091	0.16293	12.44	0.9587021926359609	0.28046	0.69565	0.34238	D	AEFBHCIJ	0.670234	0.63739	D	-0.931400453559045	0.10114	0.481769	-0.882631929416239	0.12505	0.6436512	0.999625303795637	0.41093	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.17	-4.29	0.03465	-0.249000	0.08861	0.906000	0.22588	0.665000	0.62972	0.880000	0.30988	1.000000	0.68203	0.822000	0.38733	0.0:0.2944:0.2964:0.4092	7.089	0.24452	749	0.51929	.;Fibrinogen, alpha/beta/gamma chain, coiled coil domain|Fibrinogen, alpha/beta/gamma chain, coiled coil domain;Fibrinogen, alpha/beta/gamma chain, coiled coil domain|Fibrinogen, alpha/beta/gamma chain, coiled coil domain;Fibrinogen, alpha/beta/gamma chain, coiled coil domain|Fibrinogen, alpha/beta/gamma chain, coiled coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1827.49	33	chr4	154612018	.	T	C	1827.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.182;DP=303;ExcessHet=0;FS=1.402;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=-0.383;SOR=0.835	GT:AD:DP:GQ:PL	0/1:57,70:127:99:1838,0,1373	6	0	1	0
chr4	155908924	155908924	G	A	exonic	TDO2	.	nonsynonymous SNV	TDO2:NM_005651:exon5:c.G341A:p.R114Q	.	.	.	.	.	.	.	.	.	.	.	2374319	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.507	0.0175519457888	.	.	8.254e-06	0	0	0	0	1.501e-05	0	0	1.29e-05	2	154602	rs762647259	2.876e-05	2.873e-05	3.406e-05	2.34e-05	5.052e-05	2.154e-05	1.91e-05	2.541e-05	2.225e-05	2.995e-05	0	0	5.052e-05	0	0	3.419e-05	1.657e-05	0	2.63e-05	2.627e-05	3.857e-05	1.346e-05	4.411e-05	8.15e-06	5.14e-06	1.171e-05	6.25e-06	2.415e-05	0	0	0	0	0	0	4.411e-05	0	0	0.008	0.61437	D	0.017	0.70582	D	0.999	0.77913	D	0.962	0.70672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.885	0.83555	M	.	.	.	-3.73	0.70920	D	0.932	0.93723	0.032	0.82888	D	0.503	0.81237	D	9	0.8673421	0.85983	D	0.017552	0.39293	T	0.507	0.78786	0.693	0.83032	0.307332253619	0.30352	0.7639820962230102	0.76346	0.217586072924	0.24282	0.530931472778	0.43166	T	0.547966	0.84642	D	0.359778	0.87237	D	0.294505	0.87937	D	0.99797922372818	0.92901	D	.	.	.	0.7375213	0.80150	0.4007913	0.64606	0.7375213	0.80152	0.4007913	0.64606	-9.815	0.72796	D	0.6472524151742949	0.71885	0.196	0.65488	B	.;.;.	.;.;.	5.490313	0.91477	32	0.9996188721005157	0.99998	0.96108	0.67569	D	AEFBHCI	0.969433	0.99183	D	0.882469404100879	0.90875	10.60701	0.844016914465249	0.92662	11.55702	0.999999999994625	0.74766	0.487112	0.14033	0	0.475579	0.06741	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.33	5.33	0.75683	9.516000	0.97042	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.706000	0.34326	0.0:0.0:1.0:0.0	19.401	0.94618	929	0.16858	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	811.63	34	chr4	155908924	.	G	A	811.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.291;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.704;SOR=0.73	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1182	6	0	1	0
chr4	158645088	158645088	A	T	exonic	RXFP1	.	nonsynonymous SNV	RXFP1:NM_001253729:exon13:c.A1151T:p.Y384F,RXFP1:NM_001253728:exon14:c.A1196T:p.Y399F,RXFP1:NM_001253730:exon14:c.A902T:p.Y301F,RXFP1:NM_001253727:exon15:c.A1376T:p.Y459F,RXFP1:NM_001253733:exon15:c.A827T:p.Y276F,RXFP1:NM_021634:exon15:c.A1295T:p.Y432F,RXFP1:NM_001253732:exon16:c.A899T:p.Y300F,RXFP1:NM_001363776:exon16:c.A1052T:p.Y351F	.	430	1051	39	2	0	43	0.0200466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	.	0.0018	0.00379393	0.0024	0.0006	0.0022	0	0.0005	0.0024	0.0022	0.0060	0.0024579	380	154602	rs76517567	0.0028	0.0028	0.0026	0.0029	0.0087	0.0027	0.0027	0.0068	0.0061	0.0006	0.0015	0.0004	0	0.0004	0.0087	0.0028	0.0025	0.0066	0.0021	0.0021	0.0019	0.0022	0.0071	0.0019	0.0018	0.0052	0.0046	0.0005	0	0.0017	0	0	0.0004	0.0136	0.0033	0.0019	0.0071	0.678	0.04713	T	1.0	0.02471	T	0.0	0.07471	B	0.001	0.14941	B	0.000000	0.84330	D	0.055071	0.998881	0.45620	D	0.125	0.08623	N	1.27	0.36146	T	-0.14	0.10656	N	0.347	0.38950	-1.0780	0.07741	T	0.025	0.10777	T	10	0.00875029	0.00198	T	.	.	.	0.187	0.46274	.	.	0.42828666871	0.42450	0.4035505940782954	0.40271	0.134654301779	0.15172	0.440155625343	0.30598	T	0.003769	0.33668	T	-0.439762	0.01297	T	-0.401852	0.33168	T	0.0134647964104998	0.00245	T	0.885211	0.61002	D	0.17550364	0.38412	0.10294074	0.24686	0.17550364	0.38412	0.10294074	0.24686	-4.574	0.32134	T	.	.	0.088	0.13174	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.035924	0.25880	16.92	0.91066534062621174	0.20318	0.97637	0.76068	D	AEFDBI	0.862811	0.78119	D	-0.397811946846213	0.25546	1.387581	-0.132525958353084	0.34088	1.956928	0.999999948736557	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.76	4.57	0.55860	5.168000	0.64817	1.582000	0.27480	0.756000	0.94297	1.000000	0.71638	0.231000	0.23784	0.998000	0.85391	0.9314:0.0:0.0686:0.0	11.844	0.51644	927	0.17636	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.005051	0.001359	0.005848	0.000000	0.000000	0.006135	0.003788	0.07143	2017.63	34	chr4	158645088	.	A	T	2017.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.62;DP=337;ExcessHet=0;FS=3.816;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-0.307;SOR=0.998	GT:AD:DP:GQ:PL	0/1:74,82:156:99:2028,0,1582	6	0	1	0
chr4	158709755	158709755	T	C	exonic	PPID	.	nonsynonymous SNV	PPID:NM_005038:exon10:c.A1094G:p.Y365C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	0.145653304829	.	.	3.355e-05	0	0	0	0	6.13e-05	0	0	2.59e-05	4	154602	rs756487143	1.648e-05	1.71e-05	1.504e-05	1.793e-05	9.024e-06	1.115e-05	9.37e-06	4.56e-06	3.33e-06	0	0	0.0004	0	0	0	9.024e-06	4.98e-05	0	1.314e-05	1.313e-05	0	2.689e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0.0003	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.065	0.44702	T	0.997	0.70673	D	0.798	0.58097	P	0.002186	0.37053	N	0.000000	1	0.81001	D	2.72	0.79541	M	-0.85	0.74371	T	-7.36	0.94647	D	0.808	0.80375	0.187	0.85686	D	0.572	0.84536	D	10	0.7834688	0.78048	D	0.145653	0.82783	D	0.574	0.82742	.	.	0.90954841204	0.90864	0.6015263181131546	0.60083	0.717406964783	0.62043	0.699870646	0.67124	T	0.114213	0.43185	T	0.322658	0.84660	D	0.241186	0.85202	D	0.709624409675598	0.41182	D	0.984801	0.94749	D	0.49898973	0.67037	0.59819627	0.76665	0.49898973	0.67037	0.59819627	0.76666	-10.913	0.79179	D	.	.	0.267	0.50157	B	.	.	5.252047	0.88183	29.5	0.99746488940270528	0.83927	0.98949	0.89045	D	AEBI	0.723166	0.67287	D	0.793812607354425	0.85717	8.66025	0.786101491290568	0.88809	9.724318	0.999999705059703	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	6.232000	0.72264	7.847000	0.70787	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.822	0.85699	928	0.17405	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	911.44	36	chr4	158709755	.	T	C	911.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.999;DP=303;ExcessHet=0;FS=0.728;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.14;ReadPosRankSum=1.06;SOR=0.841	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	6	0	1	0
chr4	159341677	159341677	C	T	exonic	RAPGEF2	.	nonsynonymous SNV	RAPGEF2:NM_001351727:exon14:c.C2165T:p.A722V,RAPGEF2:NM_001351728:exon14:c.C2165T:p.A722V,RAPGEF2:NM_014247:exon14:c.C2165T:p.A722V,RAPGEF2:NM_001351725:exon17:c.C2300T:p.A767V,RAPGEF2:NM_001351726:exon17:c.C2300T:p.A767V,RAPGEF2:NM_001351724:exon20:c.C2648T:p.A883V	.	438	1080	4	0	0	4	0.00184843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.809	0.19769410861	.	0.000399361	0.0007	0	0.0003	0	0	0	0	0.0051	0.0005951	92	154602	rs549339908	0.0003	0.0003	0.0002	0.0005	0.0051	0.0003	0.0003	0.0047	0.0045	2.987e-05	2.236e-05	0	0	0	0.0010	3.597e-06	0.0002	0.0051	0.0001	0.0001	5.141e-05	0.0002	0.0035	8.66e-05	7.252e-05	0.0022	0.0018	0	0	0	0	0	0	0	2.94e-05	0.0005	0.0035	0.001	0.78490	D	0.0	0.92824	D	0.985	0.61118	D	0.987	0.77487	D	0.000000	0.84330	D	0.046411	1	0.81001	D	3.65	0.94181	H	-0.58	0.71425	T	-3.67	0.70191	D	0.843	0.83885	0.640	0.92418	D	0.706	0.89904	D	10	0.07724005	0.12167	T	0.197694	0.86552	D	0.809	0.93816	0.838	0.94479	0.910330845944	0.90943	0.906913232815615	0.90664	1.77477102259	0.91327	0.80330312252	0.82468	D	0.596087	0.86986	D	0.0558042	0.59083	T	0.308749	0.88596	D	0.343511576734591	0.26762	T	0.990501	0.97045	D	0.6503522	0.75383	0.6419444	0.79078	0.6503522	0.75384	0.6419444	0.79079	-13.686	0.91992	D	.	.	0.964	0.90831	P	.;.;.	.;.;.	4.307824	0.65834	24.9	0.99928107718192161	0.99222	0.97451	0.74834	D	ALL	0.865847	0.78508	D	1.06286664936056	0.97383	16.03584	0.974724605747922	0.98075	17.37238	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	7.884000	0.85773	7.724000	0.67448	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0:1.0:0.0:0.0	20.328	0.98707	862	0.33134	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1301.46	34	chr4	159341677	.	C	T	1301.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.14;DP=272;ExcessHet=0;FS=3.695;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=1.2;SOR=0.885	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1118	6	0	1	0
chr4	165493234	165493234	A	G	exonic	CPE	.	nonsynonymous SNV	CPE:NM_001873:exon7:c.A1177G:p.I393V	.	425	1094	3	0	0	3	0.00136924	.	.	.	1572538	CPE-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.028	0.00777687685794	0.0004	0.000199681	0.0007	0	0.0003	0	0	0.0011	0	6.065e-05	0.0005433	84	154602	rs144687736	0.0004	0.0004	0.0004	0.0004	0.0045	0.0004	0.0004	0.0032	0.0027	0	0.0003	0.0068	5.039e-05	0	0.0045	0.0003	0.0007	5.797e-05	0.0004	0.0004	0.0005	0.0004	0.0005	0.0003	0.0003	0.0003	0.0003	4.81e-05	0	0.0003	0.0049	0.0002	0	0.0068	0.0005	0.0019	0	0.081	0.33418	T	0.144	0.33109	T	0.012	0.16265	B	0.012	0.16012	B	0.000003	0.62929	D	0.101518	0.99997	0.53665	D	0.66	0.16226	N	1.91	0.23283	T	-0.83	0.22727	N	0.198	0.21839	-1.1165	0.02566	T	0.047	0.19998	T	10	0.0066268444	0.00150	T	0.007777	0.20642	T	0.028	0.06331	.	.	0.2338531098	0.23012	0.5278158370917471	0.52705	0.475177538353	0.46692	0.480502277613	0.36126	T	0.180698	0.53213	T	-0.439782	0.01297	T	-0.503051	0.22032	T	0.0246478087686151	0.01226	T	0.869313	0.57326	D	0.21559	0.43996	0.14059058	0.33508	0.21559	0.43996	0.14059058	0.33507	-4.948	0.36270	T	.	.	0.079	0.07224	B	.	.	2.054176	0.26112	17.00	0.9937766709063609	0.61715	0.94545	0.61513	D	AEFGBCI	0.553367	0.56465	D	-0.210253940343042	0.32713	1.847843	-0.0347931087723538	0.38154	2.243935	0.999999757575563	0.74766	0.693126	0.56070	0	0.610034	0.51514	0	0.659464	0.59346	0	0.638833	0.57524	0	.	.	5.68	4.48	0.53973	3.954000	0.56414	3.425000	0.38278	0.756000	0.94297	1.000000	0.71638	0.988000	0.31051	0.794000	0.37478	0.8668:0.1332:0.0:0.0	13.194	0.59152	981	0.03995	Peptidase M14, carboxypeptidase A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	304.46	59	chr4	165493234	.	A	G	304.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.74;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.16;ReadPosRankSum=1.16;SOR=0.619	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1156	6	0	1	0
chr4	168441441	168441441	C	A	exonic	DDX60L	.	nonsynonymous SNV	DDX60L:NM_001012967:exon10:c.G1190T:p.W397L,DDX60L:NM_001291510:exon10:c.G1190T:p.W397L,DDX60L:NM_001345927:exon10:c.G1190T:p.W397L,DDX60L:NM_001378072:exon11:c.G1190T:p.W397L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0311882610805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.003800	0.34487	U	0.000000	0.99708	0.22800	N	.	.	.	1.0	0.41392	T	-10.04	0.98852	D	0.514	0.56489	-0.8986	0.48135	T	0.220	0.58292	T	10	0.6287851	0.68396	D	0.031188	0.53330	D	0.232	0.53354	0.599	0.72984	0.186928172975	0.18263	0.44610837864715175	0.44528	0.218815070265	0.24419	0.601572573185	0.53126	T	0.118027	0.43854	T	-0.0665654	0.41873	T	-0.333393	0.41091	T	0.999473035335541	0.97549	D	0.854215	0.54045	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.831	0.79364	P	.;.;.;.	.;.;.;.	3.976758	0.58430	24.0	0.98613465913946485	0.43677	0.78638	0.38828	D	AEFDGBI	0.097115	0.19593	N	0.218101279107839	0.52077	3.384231	0.0408864351310531	0.41633	2.504571	0.999999715306788	0.74766	0.50712	0.20391	0	0.588066	0.40923	0	0.573888	0.23631	0	0.635259	0.50027	0	.	.	3.1	3.1	0.34780	3.674000	0.54333	4.126000	0.42002	0.454000	0.21428	1.000000	0.71638	1.000000	0.68203	0.777000	0.36790	0.0:1.0:0.0:0.0	9.976	0.40957	976	0.04745	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	31	chr4	168441441	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	6	1	0	0
chr4	168685497	168685497	A	T	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001166109:exon5:c.A127T:p.T43S,PALLD:NM_001166108:exon6:c.A1273T:p.T425S,PALLD:NM_016081:exon6:c.A1273T:p.T425S	.	423	1068	30	1	0	32	0.0147601	.	.	.	133552	Pancreatic_cancer,_susceptibility_to,_1|not_provided|not_specified	MONDO:MONDO:0011739,MedGen:C1847351,OMIM:606856,Orphanet:1333|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.406	.	0.0041	0.000998403	0.0045	0.0005	0.0014	0	0.0003	0.0052	0.0055	0.0104	0.0043078	666	154602	rs140454899	0.0045	0.0046	0.0042	0.0048	0.0151	0.0044	0.0044	0.0125	0.0116	0.0006	0.0014	0.0171	0	0.0002	0.0151	0.0042	0.0046	0.0117	0.0033	0.0033	0.0033	0.0033	0.0122	0.0031	0.0030	0.0097	0.0088	0.0006	0	0.0012	0.0170	0	0.0003	0.0136	0.0048	0.0033	0.0122	0.045	0.56456	D	0.214	0.51421	T	.	.	.	.	.	.	0.005513	0.32736	U	0.000000	0.99029	0.41128	D	2.52	0.73523	M	-0.2	0.90679	T	-2.06	0.63438	N	0.483	0.52563	0.256	0.86843	D	0.705	0.89845	D	10	0.008006901	0.00182	T	.	.	.	0.406	0.71869	0.395	0.42099	0.730755731289	0.72836	0.32164990047811104	0.32077	0.224784248059	0.25013	0.341352850199	0.16640	T	0.037637	0.43041	T	-0.19593	0.21392	T	-0.0438291	0.67442	D	0.0487915056048183	0.05286	T	0.638236	0.40827	T	.	.	.	.	.	.	.	.	-6.342	0.53380	T	.	.	0.132	0.35972	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.119230	0.42106	21.5	0.99499971366976614	0.67973	0.98482	0.83244	D	AEFGBCI	0.620054	0.60526	D	0.378125725395134	0.60238	4.210615	0.368675571032923	0.59639	4.143637	0.999999989579635	0.74766	0.638212	0.43195	0	0.48864	0.07623	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.77	4.59	0.56297	4.575000	0.60619	7.045000	0.57350	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.677000	0.33454	0.9313:0.0:0.0687:0.0	11.751	0.51117	968	0.07033	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.000000	0.010870	0.005848	0.000000	0.000000	0.018293	0.026515	0.07143	1133.44	100	chr4	168685497	.	A	T	1133.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.695;DP=281;ExcessHet=0;FS=4.976;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-0.769;SOR=1.182	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1310	6	0	1	0
chr4	168898668	168898668	T	C	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.T254C:p.M85T,PALLD:NM_001367569:exon4:c.T254C:p.M85T,PALLD:NM_001166110:exon5:c.T914C:p.M305T,PALLD:NM_001367568:exon5:c.T305C:p.M102T,PALLD:NM_001367570:exon5:c.T305C:p.M102T,PALLD:NM_001166109:exon12:c.T1229C:p.M410T,PALLD:NM_016081:exon13:c.T2375C:p.M792T,PALLD:NM_001166108:exon14:c.T2426C:p.M809T	.	.	.	.	.	.	.	.	.	.	.	4005620	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.279	0.0397687347451	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs781250247	2.07e-06	2.056e-06	4.124e-06	0	2.726e-06	5.5e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.726e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.12428	T	0.463	0.23707	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999968	0.81001	D	.	.	.	-0.55	0.71068	T	-2.21	0.72594	N	0.834	0.82964	-0.6935	0.60745	T	0.210	0.56933	T	10	0.30150113	0.47692	T	0.039769	0.58997	D	0.279	0.59619	.	.	0.641199583376	0.63823	0.5348204186873708	0.53407	0.808502915327	0.66620	0.717784404755	0.69723	T	0.08085	0.36460	T	0.141406	0.68459	D	-0.0346559	0.68059	D	0.576772583678845	0.35494	D	0.686731	0.31793	T	.	.	.	.	.	.	.	.	-8.267	0.67607	D	.	.	0.751	0.78309	P	.;.;.;.;.;.	.;.;.;.;.;.	4.050325	0.60035	24.2	0.84874175254793893	0.15549	0.97797	0.77204	D	AEFBI	0.776798	0.70979	D	0.146184386989402	0.48631	3.07305	0.269934385284283	0.53793	3.546451	0.99999999424337	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	6.167000	0.71757	6.181000	0.54632	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.742000	0.35507	0.0:0.0:0.0:1.0	15.690	0.77200	949	0.11373	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	242.06	65	chr4	168898668	.	T	C	242.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.552;DP=371;ExcessHet=0.4139;FS=110.121;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.77;ReadPosRankSum=0.81;SOR=7.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:82,20:102:2:0|1:168898668_T_C:0,2,2461:168898668	4	0	2	1
chr4	168898669	168898669	G	A	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.G255A:p.M85I,PALLD:NM_001367569:exon4:c.G255A:p.M85I,PALLD:NM_001166110:exon5:c.G915A:p.M305I,PALLD:NM_001367568:exon5:c.G306A:p.M102I,PALLD:NM_001367570:exon5:c.G306A:p.M102I,PALLD:NM_001166109:exon12:c.G1230A:p.M410I,PALLD:NM_016081:exon13:c.G2376A:p.M792I,PALLD:NM_001166108:exon14:c.G2427A:p.M809I	.	.	.	.	.	.	.	.	.	.	.	1845107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.201	0.0305366275154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.21801	T	0.479	0.55759	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999973	0.81001	D	.	.	.	-0.62	0.71895	T	-1.59	0.56787	N	0.698	0.70263	-0.5390	0.67201	T	0.308	0.67867	T	10	0.359553	0.52621	T	0.030537	0.52827	D	0.201	0.48592	.	.	0.711221558017	0.70869	0.507454384894299	0.50667	0.790969623184	0.65777	0.635476946831	0.57922	T	0.084931	0.37388	T	0.0964953	0.63912	D	-0.0991676	0.63462	T	0.720881402492523	0.41743	D	0.822018	0.50309	T	.	.	.	.	.	.	.	.	-9.058	0.70411	D	.	.	0.834	0.80161	P	.;.;.;.;.;.	.;.;.;.;.;.	4.080126	0.60688	24.2	0.96356890166856102	0.29537	0.98354	0.81929	D	AEFBI	0.905065	0.85613	D	0.294826853967169	0.55886	3.752753	0.408467051562211	0.62091	4.418906	0.999999980908939	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	8.002000	0.88029	11.829000	0.97466	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.714000	0.34579	0.0:0.0:1.0:0.0	19.497	0.95071	949	0.11373	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	911.99	63	chr4	168898669	.	G	A	911.99	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-2;DP=357;ExcessHet=1.383;FS=196.096;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=3.88;ReadPosRankSum=0.453;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,35:100:99:0|1:168898668_T_C:383,0,991:168898668	2	0	3	2
chr4	169122191	169122191	C	T	exonic	SH3RF1	.	nonsynonymous SNV	SH3RF1:NM_020870:exon7:c.G1255A:p.A419T	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	.	0.00319489	0.0018	0.0002	9.686e-05	0.0001	0.0002	1.606e-05	0.0047	0.0127	0.0014748	228	154602	rs372228006	0.0007	0.0007	0.0004	0.0011	0.0116	0.0007	0.0007	0.0110	0.0108	8.965e-05	0	0	2.519e-05	3.745e-05	0.0005	9.893e-06	0.0010	0.0116	0.0003	0.0003	0.0002	0.0004	0.0083	0.0002	0.0002	0.0063	0.0056	0.0002	0	0	0	0.0002	0	0	0	0	0.0083	0.443	0.09182	T	0.673	0.06245	T	0.897	0.49385	P	0.103	0.30945	B	0.000653	0.42656	D	0.093210	1	0.08975	N	1.61	0.41143	L	2.61	0.13095	T	-0.37	0.13226	N	0.196	0.21580	-0.9461	0.41632	T	0.010	0.03492	T	10	0.005425155	0.00119	T	.	.	.	0.072	0.21020	.	.	0.115124310173	0.11017	0.315415711863468	0.31454	0.402715908631	0.41217	0.527263820171	0.42650	T	0.03709	0.24346	T	-0.546663	0.00305	T	-0.547632	0.17553	T	0.0152372593658534	0.00335	T	0.50365	0.15850	T	0.046122592	0.07667	0.056368798	0.10060	0.046122592	0.07667	0.056368798	0.10059	-4.801	0.34603	T	.	.	0.081	0.08224	B	.	.	1.231075	0.16258	12.42	0.95393564101089656	0.26834	0.23485	0.22091	N	AEFDBHCI	0.043801	0.06970	N	-0.909409013149414	0.10621	0.5084285	-0.999650044171079	0.09793	0.4893233	0.999999639185988	0.74766	0.656854	0.48797	0	0.546412	0.12157	0	0.67347	0.61138	0	0.635551	0.53088	0	.	.	3.15	1.39	0.21325	0.109000	0.15252	2.344000	0.32272	0.454000	0.21428	0.005000	0.17040	0.984000	0.30665	0.001000	0.02609	0.0:0.7261:0.0:0.2739	5.276	0.14963	831	0.39019	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002520	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003817	0.07143	64.44	40	chr4	169122191	.	C	T	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.674;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.05;ReadPosRankSum=-2.45;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1232	6	0	1	0
chr4	176195505	176195505	T	C	exonic	SPATA4	.	nonsynonymous SNV	SPATA4:NM_144644:exon1:c.A58G:p.K20E	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0317032853948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.28900	T	0.025	0.56192	D	0.001	0.07471	B	0.003	0.08700	B	0.768755	0.06584	N	1.141600	1	0.08975	N	1.39	0.34934	L	0.43	0.56772	T	-0.75	0.21003	N	0.156	0.16168	-0.9810	0.34771	T	0.107	0.38832	T	10	0.067307115	0.09359	T	0.031703	0.53723	D	0.058	0.16647	0.133	0.03747	0.378674557249	0.37480	0.3802740617635853	0.37942	0.138484058636	0.15620	0.395594537258	0.24454	T	0.003217	0.02616	T	-0.201907	0.20529	T	-0.527802	0.19506	T	0.03996403512181	0.03683	T	0.389061	0.09624	T	0.10643972	0.25167	0.07896605	0.17735	0.10643972	0.25167	0.07896605	0.17734	-3.925	0.22677	T	.	.	0.089	0.12084	B	.	.	0.738880	0.11084	7.732	0.97079037114924172	0.32272	0.00293	0.01568	N	ALL	0.044904	0.07281	N	-0.953675135263571	0.09610	0.4555862	-1.00450997110567	0.09686	0.4833178	0.999999999962052	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.606814	0.37721	0	0.56214	0.19341	0	.	.	4.42	0.604	0.16725	-0.100000	0.10959	-1.583000	0.05121	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.0:0.2142:0.2116:0.5742	3.707	0.07936	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1179.44	110	chr4	176195505	.	T	C	1179.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.701;DP=326;ExcessHet=0;FS=1.556;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=0.278;SOR=0.519	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	6	0	1	0
chr4	176711629	176711629	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C574G:p.L192V	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00457388535514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.36233	T	0.018	0.17786	B	0.016	0.17743	B	0.000002	0.62929	D	0.060984	0.999978	0.53665	D	1.445	0.36358	L	.	.	.	.	.	.	0.211	0.23506	-0.9162	0.46063	T	0.201	0.55723	T	9	0.21782258	0.38406	T	0.004574	0.11283	T	.	.	0.338	0.32816	0.258283824007	0.25425	0.20722753188937795	0.20638	.	.	0.476231843233	0.35538	T	0.511562	0.82742	D	-0.225602	0.17235	T	-0.561838	0.16204	T	0.975354909896851	0.70898	D	0.818018	0.47523	T	0.68111783	0.77030	0.5560567	0.74322	0.68111783	0.77031	0.5560567	0.74323	-3.092	0.11205	T	.	.	0.149	0.32898	B	.	.	2.846774	0.37571	20.5	0.99481528693655874	0.66904	0.93293	0.57830	D	AEFDGBIJ	0.738481	0.68334	D	0.0495151208025927	0.44120	2.691901	0.265583808111138	0.53542	3.522512	0.999999999071338	0.74766	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	4.780000	0.62075	7.388000	0.58495	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	116.05	46	chr4	176711629	.	G	C	116.05	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-3.856;DP=319;ExcessHet=0.3476;FS=85.069;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.89;ReadPosRankSum=1.3;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,11:57:65:0|1:176711629_G_C:65,0,1552:176711629	5	0	2	0
chr4	176711631	176711631	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C572G:p.P191R	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1678376	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.573	0.0164080950575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0079	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0004	0.0001	0.0006	0.0005	0.0003	0.0004	0.0007	0.0006	0.0001	0	1.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	.	.	.	.	.	.	0.909	0.91047	-0.3248	0.74287	T	0.394	0.74735	T	9	0.8736812	0.86647	D	0.016408	0.37653	T	.	.	0.546	0.66015	0.51627217869	0.51271	0.670927250296511	0.67030	.	.	0.735086381435	0.72250	T	0.838317	0.96206	D	0.453469	0.92634	D	0.414	0.92543	D	0.994541704654694	0.85897	D	0.888611	0.61875	D	0.8869157	0.90244	0.57547873	0.75406	0.8869157	0.90246	0.57547873	0.75407	-14.113	0.93418	D	.	.	0.912	0.83607	P	.	.	5.440469	0.90928	32	0.99696376373392925	0.80316	0.99228	0.93120	D	AEFDGBIJ	0.929678	0.91581	D	0.858986860426177	0.89613	10.04438	0.885812039272356	0.94923	13.15767	1.0	0.98316	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	9.591000	0.97403	11.818000	0.97148	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.2	120.39	46	chr4	176711631	.	G	C	120.39	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.654;DP=305;ExcessHet=0.4139;FS=108.968;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=1.1;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,11:57:65:0|1:176711629_G_C:65,0,1552:176711629	3	0	2	2
chr4	177442326	177442326	C	T	exonic	AGA	.	nonsynonymous SNV	AGA:NM_000027:exon1:c.G50A:p.C17Y,AGA:NM_001171988:exon1:c.G50A:p.C17Y	Aspartylglucosaminuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	0.139044394093	.	0.000199681	8.304e-06	0	0	0	0	0	0	6.059e-05	1.29e-05	2	154602	rs533283043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.564e-06	6.561e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.612050	0.10857	N	0.845777	1	0.08975	N	0.345	0.11182	N	-2.22	0.87038	D	-0.62	0.18248	N	0.184	0.19995	-0.9284	0.44371	T	0.381	0.73744	T	10	0.07464787	0.11438	T	0.139044	0.82152	D	0.317	0.63904	0.576	0.70087	0.483082108137	0.47938	0.559709139777735	0.55897	0.183099289915	0.20593	0.433502137661	0.29688	T	0.175431	0.52502	T	-0.116834	0.33641	T	-0.308747	0.43794	T	0.0787712729339749	0.09829	T	0.417558	0.11011	T	0.21838486	0.44345	0.33455136	0.59279	0.21838486	0.44344	0.33455136	0.59279	-4.403	0.29598	T	.	.	0.081	0.08129	B	.	.	0.448186	0.08180	4.918	0.77841072282068779	0.12045	0.09266	0.15057	N	ALL	0.112316	0.22205	N	-0.868311565976339	0.11602	0.5607885	-0.755523010554006	0.15586	0.8205031	0.999999999999986	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.67	5.67	0.87673	0.071000	0.14461	0.179000	0.15609	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	17.544	0.87752	966	0.07191	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr4	177442326	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1189	6	1	0	0
chr4	182789289	182789289	G	A	exonic	TENM3	.	nonsynonymous SNV	TENM3:NM_001080477:exon25:c.G5501A:p.R1834Q	Microphthalmia, isolated, with coloboma 9, Autosomal recessive	429	1091	2	0	0	2	0.000915751	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549	0.0900201114849	.	.	2.557e-05	0	0	0	0	3.055e-05	0	6.409e-05	1.94e-05	3	154602	rs199658018	1.779e-05	1.779e-05	1.498e-05	2.063e-05	3.482e-05	1.238e-05	1.052e-05	1.175e-05	9.55e-06	2.987e-05	0	0	0	0	0	1.799e-05	3.313e-05	3.482e-05	6.567e-06	6.562e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.176	0.22312	T	0.011	0.64786	D	0.993	0.65571	D	0.441	0.45749	B	.	.	.	.	0.999998	0.58761	D	2.31	0.66127	M	-2.18	0.86722	D	-2.93	0.61284	D	0.65	0.66101	0.224	0.86312	D	0.640	0.87407	D	9	0.62850934	0.68381	D	0.09002	0.75438	D	0.549	0.81310	0.476	0.55342	0.533608796238	0.53011	0.5201900716735522	0.51942	0.694422212937	0.60765	0.664324760437	0.62027	T	0.578835	0.86176	D	0.0120732	0.53308	T	-0.0382873	0.67817	D	0.898232460021973	0.55029	D	0.968103	0.88413	D	0.17245907	0.37939	0.21692355	0.46338	0.17245907	0.37938	0.21692355	0.46337	-7.9	0.60387	D	0.5240659145555909	0.59589	0.403	0.59722	A	.	.	4.759492	0.76940	26.6	0.99954228181075422	0.99963	0.99213	0.92899	D	AEFDBI	0.899115	0.84314	D	0.650162927990573	0.76379	6.475611	0.661294050242677	0.79454	7.085917	0.999999995825627	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.8	4.8	0.61157	9.968000	0.99102	11.808000	0.96852	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	18.424	0.90550	984	0.02857	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	954.53	33	chr4	182789289	.	G	A	954.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.1;DP=251;ExcessHet=0;FS=1.921;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=-0.857;SOR=0.954	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr4	185459161	185459161	A	C	exonic	CCDC110	.	nonsynonymous SNV	CCDC110:NM_001145411:exon5:c.T1315G:p.Y439D,CCDC110:NM_152775:exon6:c.T1426G:p.Y476D	.	500	1020	1	1	0	3	0.00146843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	.	0.0022	0.00379393	0.0022	0.0004	0.0009	0	0.0005	0.0014	0.0022	0.0089	0.0021539	333	154602	rs34396844	0.0023	0.0024	0.0022	0.0025	0.0092	0.0023	0.0023	0.0086	0.0084	0.0002	0.0007	3.915e-05	0	0.0004	0.0025	0.0022	0.0026	0.0092	0.0017	0.0017	0.0017	0.0016	0.0099	0.0015	0.0015	0.0077	0.0069	0.0004	0.0340	0.0009	0	0	0.0003	0	0.0021	0.0014	0.0099	0.005	0.63226	D	0.19	0.31527	T	0.985	0.61118	D	0.859	0.61184	P	0.011273	0.29595	N	0.239717	0.989713	0.24262	N	2.33	0.66821	M	2.22	0.18875	T	-2.81	0.59389	D	0.652	0.66272	-1.0925	0.05128	T	0.060	0.25273	T	10	0.0075873733	0.00172	T	.	.	.	0.092	0.26621	.	.	0.305730143919	0.30178	0.18753886358063476	0.18671	0.497085312296	0.48199	0.536832928658	0.43999	T	0.054404	0.33226	T	-0.409203	0.02012	T	-0.353177	0.38842	T	0.0354245026902922	0.02880	T	0.726327	0.34071	T	0.20460619	0.42576	0.22461562	0.47380	0.20460619	0.42576	0.22461562	0.47378	-5.132	0.38242	T	.	.	0.277	0.54933	B	.;.;.	.;.;.	2.994961	0.39995	21.1	0.99084004268939263	0.52051	0.86472	0.45759	D	AEFDGI	0.188985	0.31625	N	0.246520957806076	0.53466	3.515413	0.189351568928819	0.49261	3.131562	0.999676281447928	0.41644	0.554377	0.28877	0	0.626922	0.53725	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.63	3.23	0.36150	1.807000	0.38540	4.106000	0.41892	0.756000	0.94297	0.884000	0.31069	0.997000	0.33255	0.999000	0.91618	0.8359:0.0:0.1641:0.0	8.027	0.29601	944	0.12746	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.1429	33.22	38	chr4	185459161	.	A	C	33.22	.	AC=2;AF=0.143;AN=14;DP=417;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:113,0:113:99:0,120,1800	6	1	0	0
chr4	186163480	186163480	C	T	exonic	FAM149A	.	nonsynonymous SNV	FAM149A:NM_001006655:exon10:c.C890T:p.P297L,FAM149A:NM_001350178:exon10:c.C890T:p.P297L,FAM149A:NM_001350179:exon10:c.C890T:p.P297L,FAM149A:NM_001367768:exon10:c.C1736T:p.P579L,FAM149A:NM_015398:exon10:c.C890T:p.P297L	.	425	1090	6	1	0	8	0.00365631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0003	0.00299521	0.0017	0.0006	0.0002	0.0005	0.0014	0.0003	0.0077	0.0096	0.0015782	244	154602	rs201598032	0.0008	0.0008	0.0006	0.0011	0.0097	0.0008	0.0008	0.0092	0.0090	0.0002	0	0	0.0006	0.0020	0.0033	0.0001	0.0014	0.0097	0.0009	0.0009	0.0005	0.0012	0.0137	0.0007	0.0007	0.0111	0.0101	0.0006	0	0	0	0.0004	0.0018	0	0.0002	0.0009	0.0137	0.123	0.27904	T	0.185	0.30729	T	0.253	0.31246	B	0.015	0.17295	B	0.204809	0.16509	N	0.587035	1	0.08975	N	0.345	0.11182	N	2.64	0.12780	T	-0.95	0.26843	N	0.186	0.20262	-0.9896	0.32702	T	0.018	0.07282	T	10	0.004492551	0.00092	T	.	.	.	0.027	0.05988	.	.	0.141422826196	0.13715	0.055520776042961004	0.05493	0.097110365055	0.10970	0.302019923925	0.10702	T	0.006974	0.06393	T	-0.581705	0.00188	T	-0.601958	0.12647	T	0.00759939833250873	0.00088	T	0.654235	0.30434	T	0.03275125	0.03360	0.030722532	0.01564	0.03275125	0.03359	0.030722532	0.01564	-3.0	0.14550	T	.	.	0.082	0.09820	B	.;.;.;.;.;.	.;.;.;.;.;.	1.161560	0.15504	11.90	0.9067837834580309	0.19929	0.02868	0.07639	N	AEFDBI	0.158766	0.28446	N	-1.1283678472174	0.06143	0.2820047	-1.09986148528249	0.07703	0.3757687	0.00948221202011308	0.11862	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.19	3.35	0.37468	0.031000	0.13598	0.398000	0.17967	-0.168000	0.11412	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2295:0.1253:0.6451:0.0	6.906	0.23489	694	0.58444	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	1119.45	36	chr4	186163480	.	C	T	1119.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.327;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=0.607;SOR=0.643	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	6	0	1	0
chr4	186619789	186619789	T	G	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon10:c.A6797C:p.E2266A	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0390028849331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	2.736e-06	4.084e-06	1.375e-06	3.598e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	0.74	0.42962	P	0.642	0.52168	P	0.000003	0.62929	D	0.101609	1	0.81001	D	2.435	0.70606	M	4.75	0.01589	T	-5.63	0.86836	D	0.407	0.44761	-0.8553	0.51599	T	0.015	0.06234	T	10	0.3662235	0.53122	T	0.039003	0.58559	D	0.246	0.55340	0.449	0.50957	0.53974568202	0.53626	0.3396355049547769	0.33876	0.429115172749	0.43209	0.567936718464	0.48386	T	0.373183	0.73723	T	-0.0669928	0.41808	T	-0.334007	0.41021	T	0.989304304122925	0.79549	D	0.984402	0.94639	D	0.6429718	0.74989	0.47135136	0.69348	0.6429718	0.74991	0.47135136	0.69349	-9.032	0.67903	D	.	.	0.168	0.36966	B	.;.	.;.	3.922962	0.57282	23.8	0.99391134785517099	0.62337	0.96329	0.68606	D	AEFBCI	0.913068	0.87455	D	0.222136096986925	0.52273	3.402506	0.159031994710729	0.47622	2.989723	0.999999999951653	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.668105	0.65232	0	.	.	5.05	5.05	0.67566	8.017000	0.88732	7.904000	0.73702	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.201000	0.21925	0.0:0.0:0.0:1.0	14.953	0.70741	889	0.27310	Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	424.44	62	chr4	186619789	.	T	G	424.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.97;DP=354;ExcessHet=0;FS=2.482;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.32;ReadPosRankSum=-0.471;SOR=0.379	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,99,1485	6	0	1	0
chr4	186707592	186707592	T	C	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon2:c.A2236G:p.T746A	.	433	1064	24	1	0	26	0.0120706	.	.	.	734578	FAT1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.048	.	0.0002	0.00199681	0.0017	0.0001	0.0004	0	0	0.0005	0.0022	0.0099	0.0014618	226	154602	rs372906523	0.0008	0.0008	0.0006	0.0011	0.0092	0.0008	0.0008	0.0087	0.0085	5.974e-05	0.0004	0.0014	2.519e-05	0	0.0040	0.0003	0.0011	0.0092	0.0005	0.0005	0.0004	0.0006	0.0077	0.0004	0.0004	0.0057	0.0051	7.217e-05	0	0.0002	0.0012	0	0	0	0.0004	0.0014	0.0077	0.33	0.13131	T	0.176	0.29843	T	0.0	0.02946	B	0.003	0.08700	B	0.000094	0.51296	D	0.202552	0.775	0.29395	N	-0.06	0.04898	N	0.72	0.50976	T	-0.84	0.22944	N	0.047	0.02559	-1.0245	0.22246	T	0.059	0.24908	T	10	0.01055342	0.00234	T	.	.	.	0.048	0.13305	.	.	0.241664281697	0.23763	0.20750701503381078	0.20666	0.0949219852667	0.10718	0.296818077564	0.09928	T	0.091958	0.38904	T	-0.561521	0.00249	T	-0.571828	0.15283	T	0.00803127333825077	0.00095	T	0.689731	0.32156	T	0.056769855	0.11213	0.036439214	0.03093	0.050833844	0.09244	0.042284794	0.05000	-3.188	0.12334	T	.	.	0.073	0.04640	B	.;.	.;.	2.579197	0.33439	19.34	0.96441929633970203	0.29830	0.89859	0.50602	D	AEFBCI	0.464412	0.51292	N	-0.472804261906456	0.22975	1.230519	-0.284387891058474	0.28611	1.596661	0.999998175127888	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.620846	0.47308	0	.	.	4.99	3.78	0.42629	1.942000	0.39870	2.062000	0.30399	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.2088:0.0871:0.0:0.704	4.981	0.13509	951	0.11083	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.005051	0.001359	0.000000	0.000000	0.008621	0.006098	0.000000	0.07143	2055.44	88	chr4	186707592	.	T	C	2055.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.049;DP=733;ExcessHet=0;FS=1.08;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-1.481;SOR=0.613	GT:AD:DP:GQ:PL	0/0:150,0:150:99:0,120,1800	6	0	1	0
chr4	188099069	188099069	T	G	exonic	TRIML2	.	nonsynonymous SNV	TRIML2:NM_001303419:exon4:c.A587C:p.K196T,TRIML2:NM_173553:exon5:c.A587C:p.K196T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.020377974196	0.0019	0.00179712	0.0008	0.0086	8.648e-05	0	0	0	0	6.06e-05	0.0006792	105	154602	rs151211233	0.0002	0.0002	0.0003	0.0002	0.0091	0.0002	0.0002	0.0083	0.0079	0.0091	0.0004	0	0	0	0.0003	8.993e-07	0.0004	3.478e-05	0.0024	0.0024	0.0023	0.0024	0.0085	0.0022	0.0021	0.0077	0.0075	0.0085	0	0.0003	0	0	0	0	1.47e-05	0.0005	0	.	.	.	0.454	0.19908	T	.	.	.	.	.	.	0.837321	0.06978	N	1.101200	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.227	0.25499	-0.9151	0.46207	T	0.188	0.53797	T	10	0.004150629	0.00082	T	0.020378	0.42963	T	0.011	0.01250	.	.	0.222439326576	0.21863	0.21446038215226562	0.21362	0.137440798774	0.15499	0.319078058004	0.13281	T	0.060121	0.31301	T	-0.482729	0.00713	T	-0.460634	0.26530	T	0.0547333133202548	0.06312	T	0.579842	0.20971	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.37746	B	.;.	.;.	0.635635	0.10040	6.792	0.96503545779144151	0.30051	0.08674	0.14569	N	AEFBI	0.062688	0.12065	N	-0.510459974663859	0.21740	1.15601	-0.684435212710021	0.17350	0.9221422	0.0172182387188447	0.12925	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.564101	0.26826	0	.	.	4.72	0.801	0.17822	0.004000	0.13007	-0.224000	0.10736	-0.129000	0.13216	0.000000	0.06391	0.000000	0.08366	0.059000	0.15899	0.0:0.2923:0.0:0.7077	6.665	0.22225	975	0.05339	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1073.63	34	chr4	188099069	.	T	G	1073.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.41;DP=288;ExcessHet=0;FS=1.62;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=1.12;SOR=0.891	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1224	6	0	1	0
chr4	189953101	189953101	C	T	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon4:c.C293T:p.T98M	.	169	1019	334	0	0	334	0.140809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	.	.	.	0.4080	0.3423	0.3991	0.3531	0.3948	0.4099	0.4323	0.4613	0.0003816	59	154602	rs201275486	7.611e-05	0.0007	8.045e-05	7.169e-05	0.0003	6.427e-05	5.97e-05	0.0002	0.0002	6.318e-05	0.0003	0.0001	2.682e-05	0.0001	0.0003	5.437e-05	5.221e-05	0.0003	7.555e-05	0.0010	4.012e-05	0.0001	5.02e-05	4.146e-05	3.255e-05	8.32e-06	3.11e-06	5.02e-05	0	0	0	0	0.0007	0	3.052e-05	0	0	0.04	0.42199	D	0.067	0.44302	T	0.952	0.54136	P	0.4	0.44481	B	0.000001	0.84330	D	0.093692	1	0.81001	D	.	.	.	1.78	0.52642	T	-4.29	0.76414	D	0.333	0.37405	-0.8920	0.48758	T	0.126	0.43174	T	9	0.005040586	0.00109	T	.	.	.	0.267	0.58126	.	.	.	.	0.7086331413770478	0.70805	0.761265370882	0.64277	0.643288969994	0.59033	T	0.592736	0.86832	D	0.145454	0.68842	D	-0.0288412	0.68446	D	0.0610726985776521	0.07336	T	.	.	.	0.11254749	0.26589	0.23484966	0.48713	0.11254749	0.26589	0.23484966	0.48712	-9.66	0.71851	D	.	.	0.172	0.47039	B	.;.	.;.	3.588897	0.50628	23.0	0.99818926167319089	0.90238	0.93303	0.57857	D	AEFBI	0.649950	0.62423	D	0.332693509411821	0.57835	3.952406	0.333491443171521	0.57519	3.917869	0.999999999185946	0.74766	0.732398	0.92422	0	0.644132	0.57912	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	3.71	3.71	0.41733	4.481000	0.59983	3.605000	0.39235	-0.252000	0.07121	1.000000	0.71638	0.999000	0.35428	0.157000	0.20547	0.0:1.0:0.0:0.0	13.859	0.63048	991	0.01385	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.269832	0.442623	0.240437	0.270270	0.285714	0.236842	0.255725	0.272727	0.2143	170.44	6	chr4	189953101	.	C	T	170.44	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.495;DP=60;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=51.64;MQRankSum=-2.141;QD=6.09;ReadPosRankSum=1.47;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,2:12:54:0|1:189953101_C_T:54,0,403:189953101	4	0	3	0
chr4	189953126	189953126	G	T	splicing	FRG1	NM_004477:exon4:c.317+1G>T	.	.	.	183	1055	284	0	0	284	0.11863	1.0000	0.936	.	794301	CIC-rearranged_sarcoma	MONDO:MONDO:0956989,MedGen:C3899764	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0032	0.0014	0.0010	0.0009	0.0020	0	0.0006	0.0001153	3	26028	rs770433406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281809	0.81469	D	0.167022	0.81231	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.592813	0.92394	32	0.99300431696382707	0.58613	0.97908	0.78038	D	AEFBI	.	.	.	1.05490941371048	0.97203	15.74775	0.843458885629421	0.92630	11.53725	0.999999998414614	0.74766	0.258101	0.04556	0	0.375	0.05954	0	0.083675	0.02720	0	0.109871	0.03346	0	0.829964	0.49773	3.53	3.53	0.39533	8.827000	0.91663	11.037000	0.85129	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.327000	0.25133	0.0:0.0:1.0:0.0	13.458	0.60660	991	0.01385	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	183.18	5	chr4	189953126	.	G	T	183.18	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.524;DP=52;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=49.72;MQRankSum=-2.1;QD=7.63;ReadPosRankSum=-0.524;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,2:11:57:0|1:189953101_C_T:57,0,372:189953101	4	0	3	0
chr4	189957425	189957425	A	G	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon6:c.A460G:p.S154G	.	1	846	675	0	0	675	0.285171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.011311376018	.	.	.	.	.	.	.	.	.	.	.	.	.	rs189762674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05061	T	1.0	0.03232	T	0.047	0.21998	B	0.081	0.28987	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	2.6	0.41750	T	0.43	0.08971	N	0.459	0.49602	-1.0801	0.07330	T	0.058	0.24391	T	10	0.2421839	0.41410	T	0.011311	0.28804	T	0.185	0.45933	0.71	0.84601	0.556105722742	0.55269	0.4529120959340938	0.45209	0.26085393997	0.28643	0.762159407139	0.76251	T	0.040046	0.25396	T	0.00380976	0.52179	T	-0.232304	0.51549	T	0.277109354734421	0.24049	T	.	.	.	0.28638732	0.51655	0.3411275	0.59856	0.28638732	0.51655	0.3411275	0.59855	-6.244	0.48277	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	3.090452	0.41606	21.4	0.25288622774737562	0.01159	0.90585	0.51883	D	AEDGBI	0.513229	0.54111	D	-0.436064510326238	0.24215	1.305949	-0.265167819402356	0.29255	1.637516	0.999920515020144	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.683672	0.66515	0	.	.	4.19	4.19	0.48645	5.243000	0.65217	7.387000	0.58489	-0.212000	0.08331	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	1.0:0.0:0.0:0.0	11.575	0.50111	991	0.01385	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	148.89	60	chr4	189957425	.	A	G	148.89	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.416;DP=492;ExcessHet=1.1394;FS=3.079;MLEAC=3;MLEAF=0.214;MQ=45.91;MQRankSum=-1.422;QD=0.49;ReadPosRankSum=-1.752;SOR=0.974	GT:AD:DP:GQ:PL	0/0:82,0:82:99:0,120,1800	4	0	3	0
chr5	191939	191939	G	A	exonic	LRRC14B	.	nonsynonymous SNV	LRRC14B:NM_001080478:exon1:c.G401A:p.R134H	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	.	0.0063	0.0091853	0.0007	0.0236	0	0	.	0	0	0	0.0007762	120	154602	rs182961336	0.0008	0.0008	0.0009	0.0007	0.0290	0.0008	0.0008	0.0275	0.0268	0.0290	0.0014	0	0	0	0.0014	7.316e-05	0.0015	0.0001	0.0077	0.0077	0.0080	0.0074	0.0268	0.0073	0.0072	0.0255	0.0250	0.0268	0	0.0026	0	0	0	0	0.0001	0.0062	0	0.0	0.91255	D	0.008	0.67890	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.046501	0.999812	0.49394	D	2.81	0.81869	M	4.75	0.01589	T	-2.9	0.60827	D	0.748	0.74735	-1.0830	0.06776	T	0.006	0.01907	T	10	0.008790135	0.00199	T	.	.	.	0.283	0.60100	.	.	0.418964662724	0.41514	0.5863541910614805	0.58565	0.897036786801	0.70495	0.873377561569	0.93048	D	0.103221	0.41167	T	-0.406176	0.02108	T	-0.336623	0.40726	T	0.0187384102381044	0.00586	T	0.89551	0.63622	D	0.6519371	0.75467	0.5017618	0.71197	0.6519371	0.75469	0.5017618	0.71198	-4.894	0.35667	T	.	.	0.564	0.67399	P	.	.	5.291627	0.88845	29.8	0.99947943130104289	0.99923	0.96499	0.69444	D	AEFDGBHCI	0.904611	0.85511	D	0.757056991497039	0.83365	7.998108	0.731650462957789	0.84779	8.388888	1.0	0.98316	0.517182	0.21443	0	0.552344	0.17405	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	5.06	5.06	0.67838	9.338000	0.96439	11.540000	0.93128	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:0.0:1.0:0.0	15.907	0.79222	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006322	0.011494	0.004886	0.000000	0.000000	0.000000	0.007092	0.000000	0.07143	399.63	30	chr5	191939	.	G	A	399.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.17;DP=181;ExcessHet=0;FS=1.808;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.03;ReadPosRankSum=-0.468;SOR=0.375	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1053	6	0	1	0
chr5	192358	192358	G	C	exonic	LRRC14B	.	nonsynonymous SNV	LRRC14B:NM_001080478:exon1:c.G820C:p.E274Q	.	424	971	119	8	0	135	0.0649976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	0.0031	0.0139776	0.0197	0.0027	0.0040	0	0.0015	0.0100	0.0147	0.0833	0.0091849	1420	154602	rs151096925	0.0083	0.0083	0.0066	0.0099	0.0566	0.0082	0.0081	0.0552	0.0547	0.0012	0.0024	0.0056	0.0001	0.0010	0.0310	0.0056	0.0090	0.0566	0.0056	0.0057	0.0048	0.0066	0.0590	0.0053	0.0052	0.0534	0.0512	0.0013	0	0.0042	0.0049	0.0012	0.0008	0.0136	0.0059	0.0095	0.0590	0.37	0.11550	T	0.44	0.13328	T	0.1	0.25713	B	0.035	0.22741	B	0.058988	0.22358	N	0.518188	0.976539	0.25368	N	2.3	0.65703	M	0.66	0.52416	T	0.7	0.02163	N	0.089	0.06720	-0.9792	0.35186	T	0.052	0.21921	T	10	0.002982378	0.00048	T	.	.	.	0.141	0.37795	.	.	.	.	0.33562876739353953	0.33475	0.235035843099	0.26031	0.359056323767	0.19249	T	0.001039	0.00564	T	-0.589253	0.00169	T	-0.578971	0.14636	T	0.0153130589139103	0.00339	T	0.70293	0.31283	T	0.06743472	0.14603	0.0495207	0.07586	0.06743472	0.14603	0.0495207	0.07585	-2.78	0.08000	T	.	.	0.103	0.18539	B	.	.	1.638414	0.20912	14.97	0.70957301943639306	0.09467	0.68563	0.33850	D	AEFDGBCI	0.192734	0.31988	N	-0.330350993789796	0.28000	1.540847	-0.176249790140483	0.32412	1.843757	0.999992054264738	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.33	4.34	0.51267	3.683000	0.54396	6.321000	0.55444	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.362000	0.25931	0.1424:0.2363:0.6213:0.0	4.376	0.10705	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015657	0.000000	0.012262	0.000000	0.000000	0.008621	0.030864	0.045802	0.07143	1886.44	35	chr5	192358	.	G	C	1886.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.56;DP=366;ExcessHet=0;FS=1.245;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-1.187;SOR=0.81	GT:AD:DP:GQ:PL	0/1:88,76:164:99:1897,0,2051	6	0	1	0
chr5	205824	205824	C	T	exonic	CCDC127	.	nonsynonymous SNV	CCDC127:NM_145265:exon3:c.G256A:p.A86T	.	433	1053	35	1	0	37	0.0172655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	.	0.0042	0.00678914	0.0062	0.0011	0.0059	0.0001	0.0008	0.0060	0.0066	0.0162	0.0059443	919	154602	rs145153903	0.0060	0.0060	0.0057	0.0063	0.0316	0.0059	0.0059	0.0278	0.0264	0.0014	0.0050	0.0048	7.557e-05	0.0018	0.0316	0.0060	0.0060	0.0128	0.0047	0.0047	0.0048	0.0046	0.0158	0.0044	0.0043	0.0129	0.0119	0.0017	0	0.0047	0.0049	0.0002	0.0013	0.0068	0.0067	0.0071	0.0158	0.067	0.35918	T	0.014	0.62352	D	0.999	0.77913	D	0.864	0.61462	P	0.000000	0.84330	D	0.047350	0.999988	0.54805	D	2.6	0.76081	M	0.88	0.46028	T	-2.07	0.47344	N	0.395	0.43610	-0.7261	0.59159	T	0.172	0.51468	T	10	0.004016757	0.00078	T	.	.	.	0.158	0.41098	.	.	0.66879460378	0.66600	0.4770682530751477	0.47626	0.748519116031	0.63645	0.646072626114	0.59428	T	0.109214	0.42290	T	-0.361365	0.04054	T	-0.280176	0.46785	T	0.0153798379553024	0.00343	T	0.927007	0.73102	D	0.15596347	0.35220	0.18596196	0.41740	0.15596347	0.35220	0.18596196	0.41739	-4.564	0.31716	T	.	.	0.236	0.46949	B	.	.	4.429426	0.68673	25.3	0.99925958010282034	0.99042	0.98477	0.83190	D	AEFGBI	0.662197	0.63215	D	0.513168609834142	0.67868	5.139405	0.437856301735222	0.63941	4.638256	0.999999999322867	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.77	4.9	0.63643	7.099000	0.76634	7.623000	0.62394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.796000	0.37562	0.1533:0.8467:0.0:0.0	13.918	0.63419	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018630	0.020202	0.012228	0.032164	0.000000	0.043103	0.018293	0.011364	0.07143	2279.49	34	chr5	205824	.	C	T	2279.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.28;DP=394;ExcessHet=0;FS=1.09;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=1.13;SOR=0.799	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,100,1244	6	0	1	0
chr5	236504	236504	T	C	exonic	SDHA	.	nonsynonymous SNV	SDHA:NM_001294332:exon9:c.T1193C:p.V398A,SDHA:NM_001330758:exon10:c.T1337C:p.V446A,SDHA:NM_004168:exon10:c.T1337C:p.V446A	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	0	1415	107	0	0	107	0.0364317	.	.	YES	1685197	Pulmonary_artery_atresia|Hereditary_cancer-predisposing_syndrome|Paragangliomas_5|Neurodegeneration_with_ataxia_and_late-onset_optic_atrophy|Mitochondrial_complex_II_deficiency,_nuclear_type_1|Dilated_cardiomyopathy_1GG	Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259|MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.760	0.184775381618	.	.	9.889e-05	9.625e-05	0	0	0	0.0002	0	0	0.0001164	18	154602	rs201741295	2.059e-06	0.0011	0	4.141e-06	2.991e-05	5.5e-07	1.5e-07	.	.	2.991e-05	0	0	0	1.878e-05	0	9.019e-07	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.013	0.53900	D	0.005	0.72224	D	0.99	0.63424	D	0.909	0.64565	D	0.000109	0.50451	U	0.079100	1	0.81001	D	3.045	0.86684	M	-0.69	0.72678	T	-3.71	0.70674	D	0.605	0.65501	0.300	0.87565	D	0.577	0.84734	D	10	0.8255681	0.81738	D	0.184775	0.85771	D	0.760	0.91837	.	.	0.877245150884	0.87604	0.9245805198306615	0.92435	1.43342670029	0.85851	0.776162147522	0.78349	T	0.48089	0.82175	T	0.346948	0.86301	D	0.260591	0.86122	D	0.977276384830475	0.71767	D	0.756924	0.38041	T	0.79741704	0.83741	0.61894715	0.77809	0.79741704	0.83742	0.61894715	0.77809	-10.828	0.79062	D	0.4833891528602471	0.56162	0.972	0.92208	P	.;.;.;.	.;.;.;.	4.072770	0.60521	24.2	0.99699264171042234	0.80522	0.98006	0.78815	D	AEFBI	0.826800	0.74621	D	0.617996920376637	0.74313	6.111484	0.515888237046089	0.69056	5.306516	0.999969461029374	0.48965	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.01	5.01	0.66477	5.979000	0.70194	7.814000	0.69527	-0.125000	0.13442	1.000000	0.71638	1.000000	0.68203	0.045000	0.14751	0.0:0.0:0.0:1.0	12.955	0.57820	840	0.37365	FAD-dependent oxidoreductase 2, FAD binding domain;FAD-dependent oxidoreductase 2, FAD binding domain;FAD-dependent oxidoreductase 2, FAD binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	242.44	36	chr5	236504	.	T	C	242.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.339;DP=356;ExcessHet=0;FS=1;MLEAC=1;MLEAF=0.071;MQ=57.62;MQRankSum=-11.75;QD=1.56;ReadPosRankSum=-2.283;SOR=0.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,16:155:99:0|1:236502_G_T:253,0,5768:236502	6	0	1	0
chr5	236513	236513	C	T	exonic	SDHA	.	nonsynonymous SNV	SDHA:NM_001294332:exon9:c.C1202T:p.A401V,SDHA:NM_001330758:exon10:c.C1346T:p.A449V,SDHA:NM_004168:exon10:c.C1346T:p.A449V	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	0	1405	117	0	0	117	0.0399727	.	.	.	539257	Hereditary_cancer-predisposing_syndrome|Dilated_cardiomyopathy_1GG|not_provided|Paragangliomas_5|Pulmonary_artery_atresia	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154|MedGen:C3661900|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.416	0.458733665052	.	0.00179712	9.89e-05	9.619e-05	0	0	0	0.0002	0	0	0.0001746	27	154602	rs201139275	5.507e-06	0.0017	2.738e-06	8.307e-06	0.0002	2.37e-06	1.71e-06	7.2e-07	2e-07	2.996e-05	0	0	0	5.64e-05	0.0002	2.715e-06	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.013	0.64786	D	0.99	0.63424	D	0.585	0.50320	P	0.000265	0.46590	U	0.142014	1	0.81001	D	5.24	0.99965	H	-0.53	0.70833	T	-3.66	0.70067	D	0.748	0.74918	0.907	0.95770	D	0.762	0.91911	D	10	0.8196605	0.81179	D	0.458734	0.94474	D	0.699	0.89145	.	.	0.826059350657	0.82441	0.9492272012192984	0.94905	0.97409143716	0.73497	0.716711103916	0.69567	T	0.531492	0.83795	D	0.371442	0.88153	D	0.295774	0.88003	D	0.998724400997162	0.94977	D	0.872113	0.57861	D	0.9627981	0.97560	0.8899889	0.94266	0.9627981	0.97560	0.8899889	0.94266	-16.024	0.97797	D	0.9231894733639014	0.96700	0.996	0.96661	P	.;.;.;.	.;.;.;.	3.977713	0.58453	24.0	0.99927253316716125	0.99163	0.96878	0.71431	D	AEFBI	0.862645	0.78097	D	0.643185451586592	0.75929	6.393532	0.534785209024911	0.70347	5.491716	0.999999917444827	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.9	4.9	0.63643	5.874000	0.69399	7.567000	0.60617	-0.191000	0.09375	1.000000	0.71638	1.000000	0.68203	0.089000	0.17737	0.0:1.0:0.0:0.0	15.909	0.79242	840	0.37365	FAD-dependent oxidoreductase 2, FAD binding domain;FAD-dependent oxidoreductase 2, FAD binding domain;FAD-dependent oxidoreductase 2, FAD binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	215.44	36	chr5	236513	.	C	T	215.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.01;DP=367;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.76;MQRankSum=-12.09;QD=1.31;ReadPosRankSum=-1.034;SOR=0.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,16:164:99:0|1:236502_G_T:226,0,5978:236502	6	0	1	0
chr5	840546	840546	A	G	exonic	ZDHHC11	.	nonsynonymous SNV	ZDHHC11:NM_024786:exon5:c.T733C:p.F245L	.	396	1053	73	0	0	73	0.0335016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00104621411682	.	.	0.0014	0.0052	0.0006	0.0024	0	0.0009	0.0033	0.0016	1.29e-05	2	154602	rs201008730	0.0002	0.0040	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0010	0.0003	0.0004	3.833e-05	0.0005	1.883e-05	0.0021	0.0002	0.0004	0.0005	0.0008	0.0098	0.0009	0.0007	0.0031	0.0007	0.0006	0.0019	0.0015	0.0017	0	0.0005	0	0.0031	0	0	0.0003	0.0020	0.0008	1.0	0.10802	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.09	0.08384	N	1.96	0.38556	T	1.6	0.33197	N	0.112	0.09914	-1.0577	0.12337	T	0.035	0.15074	T	9	0.0083985925	0.00191	T	0.001046	0.01167	T	0.099	0.28413	0.536	0.64585	0.149567049428	0.14543	0.32164779350983813	0.32077	0.066022613777	0.07365	0.213868185878	0.00987	T	0.002805	0.02196	T	-0.181055	0.23578	T	-0.49785	0.22571	T	0.00374376377463194	0.00040	T	0.242976	0.05020	T	0.03805676	0.04996	0.03860824	0.03767	0.03805676	0.04996	0.03860824	0.03767	-0.686	0.01569	T	.	.	0.157	0.42678	B	.;.;.	.;.;.	-1.027763	0.00732	0.022	0.082392823127223083	0.00061	0.00186	0.01083	N	AEFDGBI	0.019948	0.00741	N	-2.1408184491181	0.00104	0.004452357	-2.2138367864308	0.00104	0.004581189	0.998039345530398	0.36340	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	2.74	-5.47	0.02396	-0.923000	0.04109	-7.847000	0.01075	-0.595000	0.04637	0.000000	0.06391	0.000000	0.08366	0.065000	0.16320	0.0968:0.231:0.1463:0.5259	3.145	0.06079	946	0.12043	Palmitoyltransferase, DHHC domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013904	0.043210	0.009537	0.004202	0.000000	0.008621	0.023649	0.004065	0.07143	184.44	38	chr5	840546	.	A	G	184.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.347;DP=415;ExcessHet=0;FS=8.653;MLEAC=1;MLEAF=0.071;MQ=58.27;MQRankSum=-12.88;QD=1;ReadPosRankSum=-2.354;SOR=1.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:57,0:57:99:.:.:0,120,1800:.	6	0	1	0
chr5	1037960	1037960	C	T	exonic	NKD2	.	nonsynonymous SNV	NKD2:NM_033120:exon10:c.C943T:p.R315W	.	425	1060	35	2	0	39	0.0180639	.	.	.	709550	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.115	.	0.0083	0.00379393	0.0091	0.0024	0.0054	0.0001	0.0018	0.0135	0.0099	0.0051	0.0073673	1139	154602	rs35433301	0.0096	0.0095	0.0095	0.0096	0.0332	0.0094	0.0094	0.0293	0.0278	0.0023	0.0049	0.0433	0.0001	0.0015	0.0332	0.0100	0.0118	0.0041	0.0076	0.0076	0.0076	0.0076	0.0101	0.0073	0.0071	0.0094	0.0092	0.0019	0.0274	0.0086	0.0472	0.0002	0.0022	0.0238	0.0101	0.0095	0.0050	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.998	0.88582	D	0.000030	0.55875	D	0.000000	0.999908	0.19694	N	2.135	0.59519	M	0.77	0.49642	T	-4.62	0.79143	D	0.469	0.50508	-0.8906	0.48881	T	0.164	0.50160	T	10	0.006133914	0.00138	T	.	.	.	0.115	0.32236	.	.	0.457377140028	0.45363	0.2829412715231285	0.28207	0.300538019554	0.32405	0.621095120907	0.55884	T	0.543633	0.84418	D	-0.456211	0.01037	T	-0.42013	0.31060	T	0.0627240683940684	0.07590	T	0.747625	0.36808	T	0.310553	0.53834	0.1938994	0.42984	0.310553	0.53834	0.1938994	0.42983	-5.409	0.41006	T	.	.	0.143	0.31381	B	.	.	2.911736	0.38627	20.8	0.99506249474795516	0.68322	0.08312	0.14257	N	AEFBCI	0.112808	0.22283	N	-0.557253112866003	0.20257	1.066543	-0.81538513277936	0.14123	0.7363064	0.0651303777871885	0.15351	0.653496	0.48692	0	0.588066	0.40923	0	0.596874	0.31795	0	0.562822	0.20929	0	.	.	3.73	-0.0997	0.12960	-0.051000	0.11840	0.646000	0.20366	-0.252000	0.07121	0.000000	0.06391	0.156000	0.23222	0.006000	0.07323	0.5464:0.4536:0.0:0.0	9.954	0.40823	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.033804	0.015152	0.044959	0.047059	0.100000	0.068966	0.018405	0.007634	0.07143	652.63	39	chr5	1037960	.	C	T	652.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.41;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-1.202;SOR=0.631	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	6	0	1	0
chr5	1083865	1083865	C	T	exonic	SLC12A7	.	nonsynonymous SNV	SLC12A7:NM_006598:exon8:c.G1009A:p.A337T	.	424	1084	14	0	0	14	0.00641613	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0120447086386	0.0004	0.000599042	0.0005	0.0003	0.0002	0	0	0.0005	0	0.0015	0.0004075	63	154602	rs140054338	0.0004	0.0004	0.0003	0.0004	0.0028	0.0003	0.0003	0.0018	0.0014	0.0001	0.0005	0.0044	2.526e-05	0	0.0028	0.0002	0.0009	0.0014	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0005	0.0004	0.0001	0	0.0008	0.0058	0	0	0.0034	0.0002	0.0019	0.0006	0.575	0.06086	T	0.572	0.08746	T	0.003	0.11197	B	0.001	0.04355	B	0.989428	0.08040	N	0.995188	1	0.08975	N	0.895	0.22405	L	-0.02	0.62918	T	-0.37	0.13226	N	0.099	0.08088	-1.0027	0.29139	T	0.138	0.45508	T	10	0.009790659	0.00220	T	0.012045	0.30251	T	0.040	0.10527	.	.	0.381916209588	0.37799	0.7172251238862917	0.71665	0.299493112566	0.32315	0.50070476532	0.38926	T	0.104547	0.41421	T	-0.600419	0.00145	T	-0.680788	0.06936	T	0.00439147579536579	0.00047	T	0.0336966	0.00222	T	0.02900809	0.02327	0.040754575	0.04476	0.02900809	0.02326	0.040754575	0.04476	-4.967	0.36479	T	.	.	0.074	0.05274	B	.	.	0.608214	0.09765	6.533	0.81511094854553279	0.13721	0.02140	0.06305	N	AEFGBI	0.041504	0.06318	N	-1.15469746675839	0.05703	0.2606895	-1.1844235802697	0.06169	0.2961284	0.902212495718761	0.26121	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.67	1.63	0.22882	-0.121000	0.10618	-13.249000	0.00470	-0.970000	0.01946	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.459:0.2063:0.3346	3.329	0.06661	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	930.46	35	chr5	1083865	.	C	T	930.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.23;DP=253;ExcessHet=0;FS=0.831;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.871;SOR=0.804	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,974	6	0	1	0
chr5	1293652	1293652	G	A	exonic	TERT	.	nonsynonymous SNV	TERT:NM_001193376:exon2:c.C1234T:p.H412Y,TERT:NM_198253:exon2:c.C1234T:p.H412Y	.	0	1520	2	0	0	2	0.000657462	.	.	.	27769	Autosomal_recessive_dyskeratosis_congenita_4|Acute_myeloid_leukemia|Melanoma,_cutaneous_malignant,_susceptibility_to,_9|Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_1|Dyskeratosis_congenita,_autosomal_dominant_2|Aplastic_anemia|not_provided|not_specified|Idiopathic_Pulmonary_Fibrosis|Dyskeratosis_congenita	MONDO:MONDO:0027353,MedGen:C3151444|Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MONDO:MONDO:0014056,MedGen:C3554574,OMIM:615134,Orphanet:618|MONDO:MONDO:0013878,MedGen:C3553617,OMIM:614742,Orphanet:88|MONDO:MONDO:0013521,MedGen:C3151443,OMIM:613989|Human_Phenotype_Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135,Orphanet:182040,Orphanet:88|MedGen:C3661900|MedGen:CN169374|MeSH:D054990,MedGen:C1800706|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.672	.	0.0031	0.000599042	0.0063	0.0011	0	0	0.0119	0.0153	0	0.0004	0.0022703	351	154602	rs34094720	0.0047	0.0046	0.0048	0.0045	0.0052	0.0046	0.0045	0.0051	0.0050	0.0006	0.0010	0.0187	0	0.0011	0.0016	0.0052	0.0055	0.0006	0.0031	0.0031	0.0033	0.0028	0.0049	0.0028	0.0028	0.0045	0.0043	0.0009	0	0.0010	0.0170	0	0.0012	0	0.0049	0.0028	0.0004	0.65	0.09291	T	0.063	0.69154	T	0.998	0.73220	D	0.897	0.63631	P	0.017468	0.27716	N	0.406844	0.785703	0.29283	N	2.745	0.80253	M	-4.1	0.96659	D	-2.11	0.50830	N	0.435	0.47395	0.562	0.91397	D	0.883	0.96129	D	10	0.017623723	0.00377	T	.	.	.	0.672	0.87868	.	.	0.946339547969	0.94577	0.6373800739135487	0.63672	1.3455023119	0.83972	0.540219426155	0.44476	T	0.401299	0.75864	T	-0.0616391	0.42650	T	0.139499	0.79514	D	0.021857680025102	0.00892	T	0.846715	0.52677	T	0.06016722	0.12314	0.07316676	0.15868	0.053103577	0.10001	0.08059538	0.18244	-7.025	0.55244	T	0.3458976010089355	0.44340	0.080	0.30686	B	.;.	.;.	2.489896	0.32122	18.95	0.99560553144639574	0.71769	0.50695	0.28723	D	AEFDBCI	0.171312	0.29827	N	-0.280039008071305	0.29920	1.663548	-0.330823205496057	0.27109	1.501964	0.999666362284758	0.41534	0.646311	0.45356	0	0.541556	0.11502	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.38	2.32	0.27895	0.551000	0.23068	3.475000	0.38608	0.665000	0.62972	0.219000	0.24524	1.000000	0.68203	0.064000	0.16252	0.1098:0.0:0.6084:0.2818	6.622	0.22004	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001538	0.000000	0.000000	0.000000	0.000000	0.008772	0.003145	0.003817	0.07143	905.46	53	chr5	1293652	.	G	A	905.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.118;DP=234;ExcessHet=0;FS=1.087;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.08;ReadPosRankSum=0.587;SOR=0.596	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1234	6	0	1	0
chr5	5303675	5303675	C	T	exonic	ADAMTS16	.	nonsynonymous SNV	ADAMTS16:NM_139056:exon20:c.C3095T:p.S1032F	.	414	1097	11	0	0	11	0.00498866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0208074568969	0.0013	0.000798722	0.0015	0.0004	0.0010	0	0	0.0021	0.0034	0.0015	0.0014424	223	154602	rs199747658	0.0018	0.0018	0.0017	0.0018	0.0041	0.0017	0.0017	0.0028	0.0024	0.0003	0.0018	0.0060	0	0.0001	0.0041	0.0019	0.0017	0.0014	0.0015	0.0015	0.0014	0.0017	0.0022	0.0014	0.0013	0.0019	0.0018	0.0003	0	0.0021	0.0069	0	9.411e-05	0.0034	0.0022	0.0019	0.0015	0.043	0.41364	D	0.141	0.33442	T	0.772	0.43974	P	0.272	0.39956	B	0.141440	0.18277	N	0.524541	1	0.08975	N	1.935	0.51832	L	0.11	0.61208	T	-2.79	0.59059	D	0.336	0.37717	-0.9103	0.46818	T	0.180	0.52660	T	10	0.008168191	0.00185	T	0.020807	0.43476	T	0.109	0.30843	.	.	0.767170172808	0.76504	0.2622987662833187	0.26142	0.203965002394	0.22808	0.353959918022	0.18503	T	0.031685	0.22152	T	-0.482842	0.00712	T	-0.472204	0.25279	T	0.0268254973427421	0.01519	T	0.708229	0.31875	T	0.09972423	0.23538	0.11151939	0.26901	0.09972423	0.23537	0.11151939	0.26900	-7.034	0.54281	T	.	.	0.113	0.22282	B	.	.	1.495125	0.19227	14.16	0.98633289930940538	0.43947	0.04045	0.09488	N	AEFDBI	0.067223	0.13204	N	-0.434969627096241	0.24253	1.308225	-0.57533328801523	0.20136	1.083567	0.999979530405175	0.50053	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.79	3.0	0.33773	-0.508000	0.06426	-0.043000	0.12644	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.8711:0.0:0.1289	10.455	0.43732	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.004076	0.000000	0.000000	0.000000	0.015244	0.000000	0.07143	1767.49	36	chr5	5303675	.	C	T	1767.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.166;DP=312;ExcessHet=0;FS=2.471;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.78;ReadPosRankSum=-0.31;SOR=0.949	GT:AD:DP:GQ:PL	0/1:44,68:112:99:1778,0,1101	6	0	1	0
chr5	5461559	5461559	T	C	exonic	ICE1	.	nonsynonymous SNV	ICE1:NM_015325:exon13:c.T2225C:p.V742A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0109912354141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266	0.16251	T	0.531	0.10069	T	0.017	0.17573	B	0.011	0.15521	B	0.770852	0.09549	N	0.892392	1	0.08975	N	.	.	.	2.81	0.10975	T	-0.45	0.14782	N	0.096	0.07673	-0.9395	0.42695	T	0.014	0.05657	T	10	0.0847128	0.14227	T	0.010991	0.28145	T	0.062	0.17934	0.651	0.78858	0.043077524339	0.03247	0.19026260894506358	0.18944	0.132510371965	0.14936	0.323814511299	0.13998	T	0.021413	0.16677	T	-0.297665	0.08882	T	-0.665351	0.07909	T	0.0275262782435809	0.01619	T	0.485951	0.14839	T	0.027933924	0.02056	0.036735874	0.03182	0.027933924	0.02056	0.036735874	0.03181	-2.984	0.10010	T	.	.	0.217	0.44707	B	.	.	1.955360	0.24836	16.54	0.98922304299034935	0.48583	0.01782	0.05581	N	AEFBI	0.019445	0.00675	N	-1.02704974951901	0.08045	0.3758649	-1.00955012271889	0.09574	0.4771235	0.986092906754032	0.31003	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	-1.7	0.07721	-0.123000	0.10586	0.149000	0.15269	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.888000	0.42677	0.0:0.3049:0.3516:0.3435	4.399	0.10805	768	0.49510	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	138.44	44	chr5	5461559	.	T	C	138.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.852;DP=408;ExcessHet=0;FS=2.463;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=2.07;SOR=1.206	GT:AD:DP:GQ:PL	0/0:83,0:83:99:0,120,1800	6	0	1	0
chr5	5464420	5464420	C	A	exonic	ICE1	.	nonsynonymous SNV	ICE1:NM_015325:exon13:c.C5086A:p.P1696T	.	418	1084	19	1	0	21	0.00959342	.	.	.	699115	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.00696914659558	0.0019	0.00159744	0.0016	0.0039	0.0009	0	0.0002	0.0013	0.0023	0.0035	0.0015006	232	154602	rs201780270	0.0010	0.0010	0.0009	0.0011	0.0097	0.0010	0.0010	0.0077	0.0069	0.0058	0.0010	0.0070	0	7.493e-05	0.0097	0.0006	0.0020	0.0030	0.0023	0.0023	0.0022	0.0023	0.0050	0.0021	0.0020	0.0045	0.0043	0.0050	0	0.0029	0.0075	0.0002	0.0002	0.0068	0.0006	0.0028	0.0019	0.306	0.14207	T	0.751	0.04790	T	0.003	0.11197	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	.	.	.	2.84	0.10674	T	-0.95	0.25332	N	0.018	0.00252	-0.9285	0.44357	T	0.008	0.02801	T	9	0.0038103461	0.00071	T	0.006969	0.18458	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.11298806026524169	0.11226	0.104874384788	0.11861	0.278141140938	0.07234	T	0.014733	0.12488	T	-0.713136	0.00030	T	-0.795089	0.02028	T	0.000480072017607736	0.00004	T	0.682432	0.29103	T	0.022594998	0.00933	0.033577852	0.02276	0.022594998	0.00933	0.033577852	0.02276	-4.271	0.27768	T	.	.	0.076	0.05800	B	.	.	0.066843	0.04764	1.383	0.46320027297151689	0.03701	0.03164	0.08136	N	AEFGBI	0.021940	0.01037	N	-1.39993683557654	0.02640	0.1168466	-1.39235374901299	0.03333	0.1552532	0.997232817439051	0.35404	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	-1.79	0.07504	0.940000	0.28589	0.027000	0.13676	-0.257000	0.07002	0.001000	0.13787	0.000000	0.08366	0.043000	0.14563	0.4909:0.1542:0.2591:0.0957	3.059	0.05819	763	0.50172	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007049	0.005051	0.006793	0.011696	0.000000	0.000000	0.003049	0.003788	0.07143	1995.44	47	chr5	5464420	.	C	A	1995.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.783;DP=435;ExcessHet=0;FS=0.546;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-0.711;SOR=0.612	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1356	6	0	1	0
chr5	7862999	7862999	-	A	splicing	FASTKD3	NM_024091:exon4:c.1525-2->T	.	.	.	430	1067	24	1	0	26	0.012037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0070	0.00219649	0.0050	0.0019	0.0027	0	0.0011	0.0066	0.0066	0.0059	0.000207	32	154602	rs546325772	0.0072	0.0072	0.0072	0.0071	0.0116	0.0071	0.0070	0.0094	0.0086	0.0013	0.0029	0.0020	0	0.0027	0.0116	0.0082	0.0069	0.0066	0.0047	0.0047	0.0048	0.0046	0.0075	0.0044	0.0043	0.0070	0.0068	0.0013	0	0.0037	0.0020	0	0.0035	0.0272	0.0075	0.0076	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	262.25	13	chr5	7862999	.	T	TA	262.25	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.805;DP=103;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.17;ReadPosRankSum=-0.085;SOR=0.627	GT:AD:DP:GQ:PL	0/0:26,0:26:57:0,57,855	5	0	1	1
chr5	13876722	13876722	C	T	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon22:c.G3358A:p.V1120I	Ciliary dyskinesia, primary, 3, with or without situs inversus	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0285693602386	.	.	8.249e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs758841490	5.473e-06	5.472e-06	1.362e-06	9.627e-06	8.116e-05	2.36e-06	1.7e-06	3.765e-05	2.662e-05	0	0	0	0	0	0	0	1.656e-05	8.116e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.29688	T	.	.	.	0.01	0.15535	B	0.015	0.17295	B	0.000727	0.42129	D	0.199560	0.994508	0.42307	D	2.15	0.60148	M	1.87	0.24085	T	-0.47	0.15178	N	0.195	0.21449	-1.0856	0.06298	T	0.069	0.28247	T	10	0.19344625	0.35115	T	0.028569	0.51224	D	0.087	0.25287	0.27	0.21893	0.51058355623	0.50700	0.20496601129671008	0.20413	0.0981397712825	0.11081	0.466433048248	0.34192	T	0.043951	0.26664	T	-0.23869	0.15516	T	-0.39911	0.33488	T	0.307748377323151	0.25322	T	0.914909	0.69682	D	0.074753076	0.16798	0.07302635	0.15823	0.074753076	0.16797	0.07302635	0.15822	-4.214	0.26954	T	0.1433567141336541	0.16289	0.086	0.10449	B	.	.	2.925517	0.38847	20.8	0.98932223258194663	0.48769	0.91597	0.53861	D	AEFBI	0.299095	0.40824	N	-0.202573637995132	0.33028	1.869269	-0.0536842799716874	0.37331	2.184356	0.0335190476950111	0.14110	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.6	4.74	0.59717	2.179000	0.42157	7.498000	0.59452	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.0:0.8591:0.0:0.1409	11.845	0.51652	752	0.51611	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr5	13876722	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	6	1	0	0
chr5	13882966	13882966	C	T	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon20:c.G3112A:p.V1038M	Ciliary dyskinesia, primary, 3, with or without situs inversus	0	1508	13	1	0	15	0.00494886	.	.	.	212503	Primary_ciliary_dyskinesia|Primary_ciliary_dyskinesia_3|not_provided	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.171	.	.	0.00519169	0.0028	9.61e-05	0.0005	0.0006	0	0.0002	0.0011	0.0192	0.0025161	389	154602	rs146828513	0.0014	0.0014	0.0008	0.0019	0.0201	0.0013	0.0013	0.0193	0.0190	0.0001	0.0002	0.0005	0.0002	3.744e-05	0.0028	8.094e-05	0.0024	0.0201	0.0007	0.0007	0.0003	0.0011	0.0182	0.0006	0.0005	0.0152	0.0140	4.812e-05	0	6.536e-05	0.0006	0.0008	0	0	8.821e-05	0.0014	0.0182	0.073	0.34800	T	.	.	.	0.801	0.45051	P	0.217	0.37636	B	0.000004	0.62929	N	0.060416	0.999953	0.52396	D	3.02	0.86243	M	1.83	0.24841	T	-1.68	0.40082	N	0.735	0.73555	-1.0301	0.20422	T	0.076	0.30553	T	10	0.0049948096	0.00107	T	.	.	.	0.171	0.43483	.	.	0.466059976078	0.46230	0.7299791674544845	0.72942	0.309138400549	0.33229	0.477823525667	0.35757	T	0.08197	0.36721	T	-0.425693	0.01574	T	-0.367998	0.37121	T	0.0908767307888051	0.11321	T	0.810219	0.46129	T	0.07719029	0.17504	0.14930494	0.35258	0.07719029	0.17504	0.14930494	0.35257	-6.034	0.46563	T	0.26726182137075205	0.36010	0.298	0.52793	B	.	.	2.699358	0.35258	19.85	0.99125257273832401	0.53116	0.96469	0.69293	D	AEFGI	0.732746	0.67940	D	0.148555678373125	0.48743	3.082908	0.182664671216065	0.48896	3.099666	0.931107810268763	0.27034	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	6.03	5.17	0.70848	5.770000	0.68526	3.890000	0.40289	-0.207000	0.08511	1.000000	0.71638	0.999000	0.35428	0.233000	0.22815	0.0:0.9334:0.0:0.0666	15.315	0.73778	752	0.51611	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.018939	0.07143	2233.44	48	chr5	13882966	.	C	T	2233.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.405;DP=476;ExcessHet=0;FS=2.923;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=-0.795;SOR=0.513	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	6	0	1	0
chr5	13922214	13922214	C	T	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon5:c.G553A:p.E185K	Ciliary dyskinesia, primary, 3, with or without situs inversus	.	.	.	.	.	.	.	.	.	YES	633475	Primary_ciliary_dyskinesia_3|Primary_ciliary_dyskinesia	MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.076	0.00868679874243	.	.	6.594e-05	0	0	0	0	1.499e-05	0.0011	0.0004	5.17e-05	8	154602	rs752339132	3.215e-05	3.215e-05	2.314e-05	4.125e-05	0.0003	2.478e-05	2.22e-05	0.0002	0.0002	0	2.236e-05	0	0	0	0	1.799e-05	3.311e-05	0.0003	3.943e-05	3.938e-05	2.572e-05	5.377e-05	0.0006	1.716e-05	1.13e-05	0.0002	9.018e-05	2.409e-05	0	0	0	0	0	0	1.471e-05	0.0005	0.0006	0.574	0.06106	T	.	.	.	0.037	0.20876	B	0.011	0.15521	B	0.002308	0.36806	N	0.254817	0.876315	0.28124	N	2.53	0.73802	M	1.9	0.23486	T	-1.5	0.36586	N	0.361	0.40264	-1.0308	0.20195	T	0.058	0.24204	T	10	0.10048345	0.18302	T	0.008687	0.22952	T	0.076	0.22200	0.43	0.47843	0.313518423057	0.30959	0.4418344967883607	0.44100	0.202092860397	0.22627	0.455816447735	0.32738	T	0.067686	0.33265	T	-0.336219	0.05654	T	-0.461053	0.26483	T	0.0639162510005849	0.07769	T	0.694731	0.30434	T	0.080139056	0.18347	0.083861955	0.19251	0.080139056	0.18346	0.083861955	0.19251	-2.806	0.08239	T	.	.	0.083	0.09385	B	.	.	2.363399	0.30314	18.40	0.83198400472804512	0.14595	0.88549	0.48528	D	AEFDGBI	0.375660	0.46010	N	-0.553811824631395	0.20364	1.072981	-0.470404819915586	0.22973	1.250513	0.999999555015628	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.55	3.79	0.42757	3.854000	0.55657	3.956000	0.40711	-0.195000	0.09104	0.998000	0.41325	0.999000	0.35428	0.591000	0.31164	0.0:0.8631:0.0:0.1369	12.430	0.54903	750	0.51762	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1616.44	36	chr5	13922214	.	C	T	1616.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.25;DP=325;ExcessHet=0;FS=1.371;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=0.95;SOR=0.848	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1110	6	0	1	0
chr5	14397101	14397101	T	C	exonic	TRIO	.	nonsynonymous SNV	TRIO:NM_007118:exon29:c.T4370C:p.M1457T	Mental retardation, autosomal dominant 44, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.803	0.607880101629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	0.995	0.67487	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.62	0.93917	H	-0.15	0.65192	T	-5.22	0.85103	D	0.933	0.93841	0.311	0.87728	D	0.546	0.83298	D	10	0.91930556	0.91287	D	0.60788	0.96567	D	0.803	0.93582	0.768	0.89530	0.770173575234	0.76806	0.8865844041988105	0.88627	2.08621322631	0.94675	0.935062050819	0.99249	D	0.461553	0.79828	T	0.385551	0.89062	D	0.316041	0.88925	D	0.99721485376358	0.91033	D	0.994516	0.98171	D	0.8800467	0.89670	0.8839668	0.93840	0.8800467	0.89671	0.8839668	0.93840	-12.877	0.88850	D	0.8126676643583495	0.88728	0.993	0.96223	P	.;.;.	.;.;.	4.517657	0.70805	25.6	0.98558679360083823	0.42948	0.96380	0.68855	D	AEFBHCI	0.913403	0.87534	D	0.886268292424851	0.91070	10.701	0.841236870122834	0.92495	11.45868	0.999999999999891	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.723	0.93126	0	.	.	5.65	5.65	0.86881	7.949000	0.87258	7.838000	0.70402	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	16.178	0.81689	700	0.57880	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	145.53	33	chr5	14397101	.	T	C	145.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.563;DP=267;ExcessHet=0;FS=47.565;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.11;ReadPosRankSum=-0.306;SOR=5.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:56,0:56:92:.:.:0,92,1400:.	6	0	1	0
chr5	14397102	14397102	G	A	exonic	TRIO	.	nonsynonymous SNV	TRIO:NM_007118:exon29:c.G4371A:p.M1457I	Mental retardation, autosomal dominant 44, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.445	0.0409430656795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.013	0.63109	D	0.979	0.59044	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.245	0.63543	M	0.19	0.60236	T	-3.48	0.69357	D	0.82	0.81559	-0.4822	0.69288	T	0.387	0.74187	T	10	0.7300097	0.74233	D	0.040943	0.59658	D	0.445	0.74727	0.603	0.73466	0.508882987362	0.50527	0.8542333247851932	0.85386	2.03962625952	0.94218	0.903453052044	0.96813	D	0.394776	0.75383	T	0.315296	0.84136	D	0.215124	0.83929	D	0.961490571498871	0.66098	D	0.997445	0.98962	D	0.7682298	0.81942	0.7615341	0.85911	0.7682298	0.81943	0.7615341	0.85912	-11.132	0.80376	D	0.7776095063335766	0.85790	0.993	0.96282	P	.;.;.	.;.;.	4.666563	0.74536	26.2	0.99449286284606386	0.65172	0.97759	0.76927	D	AEFBHCI	0.904397	0.85465	D	0.618858874204644	0.74370	6.120863	0.693219286210317	0.81863	7.627383	1.0	0.98316	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.723	0.93126	0	.	.	5.65	5.65	0.86881	9.914000	0.98694	11.752000	0.95431	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	20.096	0.97848	700	0.57880	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	145.53	28	chr5	14397102	.	G	A	145.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.22;DP=265;ExcessHet=0;FS=47.565;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.11;ReadPosRankSum=-0.24;SOR=5.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:59,0:59:99:.:.:0,120,1800:.	6	0	1	0
chr5	14487917	14487917	C	T	exonic	TRIO	.	nonsynonymous SNV	TRIO:NM_007118:exon48:c.C7289T:p.P2430L	Mental retardation, autosomal dominant 44, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.455920412933	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1236350732	1.081e-05	1.3e-05	7.115e-06	1.461e-05	1.395e-05	6.49e-06	5.15e-06	8.38e-06	6.64e-06	0	0	0	0	0	0	1.395e-05	0	0	6.58e-06	6.567e-06	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.268	0.16144	T	0.137	0.33894	T	0.758	0.43456	P	0.224	0.37970	B	0.008090	0.01192	N	2.583880	1	0.08975	N	0.345	0.11182	N	-0.04	0.63240	T	-0.65	0.18877	N	0.141	0.14054	-0.9425	0.42218	T	0.119	0.41604	T	10	0.114810884	0.21613	T	0.45592	0.94426	D	0.342	0.66392	0.183	0.09131	0.574979806298	0.57166	0.15894231900309388	0.15815	0.309576127487	0.33265	0.610240459442	0.54350	T	0.070715	0.34028	T	-0.0622665	0.42553	T	-0.327218	0.41777	T	0.0343046858906746	0.02689	T	0.725127	0.33902	T	0.038252506	0.05060	0.018167157	0.00048	0.038252506	0.05060	0.018167157	0.00048	-4.353	0.28914	T	.	.	0.089	0.12371	B	.;.	.;.	0.786779	0.11572	8.164	0.82981134865287309	0.14478	0.41833	0.26745	N	AEFDBCI	0.177660	0.30491	N	-1.00333506529863	0.08534	0.4005112	-1.01423619422094	0.09472	0.4714191	0.998544190072355	0.37167	0.741868	0.97996	0	0.643519	0.57511	0	0.774882	0.98623	0	0.562822	0.20929	0	.	.	4.75	0.787	0.17740	1.137000	0.31091	1.036000	0.23518	-0.305000	0.06155	0.448000	0.26550	0.008000	0.19753	0.005000	0.06747	0.344:0.5644:0.0916:0.0	8.253	0.30900	739	0.53257	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	301.53	23	chr5	14487917	.	C	T	301.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.377;DP=187;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=1.45;SOR=0.765	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1011	6	0	1	0
chr5	16477662	16477662	C	A	exonic	RETREG1	.	nonsynonymous SNV	RETREG1:NM_019000:exon6:c.G577T:p.D193Y,RETREG1:NM_001034850:exon8:c.G1000T:p.D334Y	Neuropathy, hereditary sensory and autonomic, type IIB, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.061796528352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.02	0.65192	T	-7.4	0.94758	D	0.867	0.86404	-0.1857	0.78037	T	0.475	0.79872	T	9	0.81348807	0.80610	D	0.061797	0.68446	D	0.470	0.76421	0.308	0.27967	0.927311294786	0.92656	0.5296570243994914	0.52889	1.20030349719	0.80521	0.666061460972	0.62276	T	0.450076	0.79133	T	0.353838	0.86774	D	0.270487	0.86601	D	0.998696029186249	0.94887	D	0.937806	0.76632	D	0.8497746	0.87318	0.9110323	0.95762	0.8497746	0.87320	0.9110323	0.95762	-5.174	0.41690	T	.	.	0.496	0.66820	A	.;.	.;.	6.723522	0.95644	35	0.99564570070840996	0.72014	0.96291	0.68423	D	AEFGHCI	0.939555	0.94031	D	0.900355636977442	0.91775	11.05884	0.887299846225773	0.94993	13.21895	0.999999999999999	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	6.02	6.02	0.97559	7.233000	0.77589	7.715000	0.67011	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	20.547	0.99281	649	0.63102	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	35	chr5	16477662	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	6	1	0	0
chr5	17655226	17655226	A	G	exonic	H3Y1	.	nonsynonymous SNV	H3Y1:NM_001355258:exon1:c.T313C:p.F105L	.	797	724	1	0	0	1	0.000690131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs542813442	0.0007	0.0012	0.0004	0.0010	0.0123	0.0006	0.0006	0.0110	0.0104	0	0	0	0	0	0	0	0.0004	0.0123	0.0003	0.0003	0.0002	0.0004	0.0094	0.0002	0.0002	0.0072	0.0064	0	0	0	0	0.0002	0	0	0	0	0.0094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010849088	0.00240	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.945705	0.79334	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.843	0.79416	P	.	.	2.237884	0.28571	17.84	0.65337292252374291	0.07744	0.73147	0.35784	D	AEFGI	.	.	.	.	.	.	.	.	.	0.391067937735199	0.20047	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.615181	0.41066	0.547	0.547	0.16392	6.668000	0.74298	1.688000	0.28053	0.703000	0.85290	1.000000	0.71638	0.263000	0.23997	0.007000	0.07825	0.9999:0.0:1.0E-4:0.0	5.374	0.15456	986	0.02773	Histone H2A/H2B/H3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	119.27	28	chr5	17655226	.	A	G	119.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.542;DP=165;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=57.81;MQRankSum=1.18;QD=3.85;ReadPosRankSum=1.77;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:81:.:.:0,81,1215:.	5	0	1	1
chr5	17655397	17655397	C	G	exonic	H3Y1	.	nonsynonymous SNV	H3Y1:NM_001355258:exon1:c.G142C:p.A48P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs572658907	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0001	0.0013	0.0011	0	0.0001	0	4.357e-05	0	0.0015	0.0002	0.0002	0.0023	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	9.7e-05	0.0005	0.0004	2.41e-05	0	6.534e-05	0	0	0	0	0.0002	0.0005	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34645486	0.51599	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.963004	0.86214	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.657	0.71201	P	.	.	2.523360	0.32609	19.09	0.67576837975971349	0.08396	0.81861	0.41182	D	AEFDGHI	.	.	.	.	.	.	.	.	.	0.99986515839514	0.44398	0.090951	0.02408	1	0.063388	0.01293	0	0.048193	0.00230	0	0.057018	0.00518	0	0.648151	0.41722	0.565	0.565	0.16493	5.680000	0.67831	0.615000	0.20071	0.565000	0.28586	1.000000	0.71638	0.188000	0.23474	0.001000	0.02609	0.0:0.9999:0.0:1.0E-4	6.942	0.23675	986	0.02773	Histone H2A/H2B/H3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	194.33	7	chr5	17655397	.	C	G	194.33	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.379;DP=52;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.19;ReadPosRankSum=-1.543;SOR=0.495	GT:AD:DP:GQ:PL	0/1:3,9:12:54:204,0,54	5	0	1	1
chr5	23527724	23527724	A	T	exonic	PRDM9	.	nonsynonymous SNV	PRDM9:NM_001310214:exon11:c.A2636T:p.Q879L,PRDM9:NM_001376900:exon11:c.A2636T:p.Q879L,PRDM9:NM_020227:exon11:c.A2636T:p.Q879L	.	410	1111	1	0	0	1	0.000449843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00537641656325	7.7e-05	0.000599042	0.0004	0	0	0	0	2.997e-05	0	0.0027	0.0003234	50	154602	rs369445995	0.0002	0.0002	8.987e-05	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	0	0	0	0	0	0.0002	0	0.0002	0.0028	0.0002	0.0002	7.71e-05	0.0003	0.0052	0.0001	0.0001	0.0036	0.0031	2.408e-05	0	0	0	0	0	0	0	0	0.0052	0.002	0.72154	D	0.014	0.62352	D	0.352	0.33688	B	0.338	0.42306	B	.	.	.	.	0.904215	0.27640	N	0.085	0.08345	N	1.27	0.36146	T	-3.95	0.73477	D	0.218	0.24385	-0.9722	0.36734	T	0.076	0.30645	T	9	0.00962469	0.00217	T	0.005376	0.13771	T	0.026	0.05648	.	.	0.218112801441	0.21410	0.025707588112655767	0.02521	0.153314388227	0.17299	0.370471298695	0.20899	T	0.228705	0.59433	T	-0.550723	0.00289	T	-0.569089	0.15534	T	0.159012767441007	0.17798	T	0.433957	0.11861	T	0.28608125	0.51626	0.21881954	0.46599	0.28608125	0.51626	0.21881954	0.46598	-7.877	0.60229	D	.	.	0.303	0.53214	B	.	.	1.579046	0.20209	14.64	0.96553195714734219	0.30233	0.02155	0.06334	N	AEFDGBI	0.035420	0.04555	N	-0.587944469911769	0.19310	1.009607	-0.683131549589688	0.17382	0.924025	0.99999898674643	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.51	1.51	0.22094	-0.438000	0.06975	0.825000	0.21891	-0.149000	0.12139	0.025000	0.20085	0.000000	0.08366	0.060000	0.15972	1.0:0.0:0.0:0.0	5.248	0.14823	984	0.02857	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2662.45	109	chr5	23527724	.	A	T	2662.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.663;DP=739;ExcessHet=0;FS=0.998;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.006;SOR=0.788	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1305	6	0	1	0
chr5	31302221	31302221	A	G	exonic	CDH6	.	nonsynonymous SNV	CDH6:NM_001362435:exon6:c.A922G:p.T308A,CDH6:NM_004932:exon6:c.A922G:p.T308A	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00648939545914	.	0.000798722	0.0005	0	0	0	0	0	0	0.0039	0.0004463	69	154602	rs537944995	0.0002	0.0002	0.0001	0.0002	0.0026	0.0002	0.0001	0.0023	0.0022	5.974e-05	0	0	2.519e-05	0	0.0016	1.799e-06	0.0002	0.0026	9.191e-05	9.186e-05	1.285e-05	0.0002	0.0027	5.523e-05	4.361e-05	0.0016	0.0013	2.405e-05	0	0	0	0	0	0	0	0	0.0027	0.237	0.18308	T	0.599	0.09175	T	0.0	0.02946	B	0.002	0.06944	B	0.018225	0.27531	N	0.436743	0.745185	0.29694	N	0.735	0.18861	N	0.72	0.50976	T	-0.39	0.14978	N	0.105	0.10483	-1.0287	0.20876	T	0.080	0.31615	T	10	0.0067118704	0.00152	T	0.006489	0.17100	T	0.049	0.13647	0.389	0.41115	0.416446257289	0.41261	0.44008147164325045	0.43925	0.510312560548	0.49147	0.393313586712	0.24135	T	0.006859	0.46411	T	-0.501099	0.00564	T	-0.494676	0.22902	T	0.0392996306137806	0.03564	T	0.766023	0.39759	T	0.06511321	0.13883	0.06819117	0.14206	0.06511321	0.13883	0.06819117	0.14206	-3.887	0.22107	T	.	.	0.092	0.13597	B	.;.	.;.	3.283868	0.45002	22.0	0.97617113747127637	0.34943	0.90214	0.51215	D	AEFBI	0.254028	0.37342	N	-0.155428179064938	0.35004	2.005158	0.0640144491805223	0.42753	2.591604	0.774552655351338	0.23730	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.79	4.65	0.57626	4.335000	0.59081	7.889000	0.72943	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.9292:0.0:0.0708:0.0	11.294	0.48502	667	0.61242	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	491.49	36	chr5	31302221	.	A	G	491.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.044;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.931;SOR=0.663	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	6	0	1	0
chr5	32058097	32058097	A	C	exonic	PDZD2	.	nonsynonymous SNV	PDZD2:NM_178140:exon12:c.A2194C:p.N732H	.	432	1078	11	1	0	13	0.00599355	.	.	.	3199748	not_specified|PDZD2-related_disorder	MedGen:CN169374|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.118	0.00724430017028	0.0005	0.000798722	0.0006	0.0002	0.0009	0	0	0.0007	0.0011	0.0007	0.0005821	90	154602	rs144760557	0.0005	0.0005	0.0005	0.0005	0.0124	0.0005	0.0004	0.0101	0.0092	0.0009	0.0009	0.0017	0	0	0.0124	0.0004	0.0012	0.0006	0.0004	0.0004	0.0004	0.0005	0.0013	0.0003	0.0003	0.0009	0.0007	0.0002	0	0.0013	0.0009	0	0	0.0068	0.0004	0.0009	0.0006	0.079	0.33753	T	0.105	0.38016	T	0.241	0.30888	B	0.157	0.34536	B	0.002945	0.35672	N	0.128007	0.993024	0.41813	D	0.57	0.15267	N	2.31	0.16794	T	-3.05	0.62976	D	0.327	0.36779	-1.1131	0.02817	T	0.037	0.16160	T	10	0.023048103	0.00592	T	0.007244	0.19198	T	0.118	0.32913	.	.	0.570517846727	0.56718	0.5790963326000074	0.57838	0.660348290048	0.58863	0.796293973923	0.81398	T	0.331614	0.70167	T	-0.513425	0.00480	T	-0.613365	0.11713	T	0.075518379197342	0.09405	T	0.717128	0.32987	T	0.124024905	0.29109	0.14983214	0.35361	0.124024905	0.29109	0.14983214	0.35360	-6.74	0.52111	T	.	.	0.094	0.14293	B	.	.	3.790175	0.54550	23.5	0.99397428634644747	0.62656	0.90870	0.52417	D	AEFGBCI	0.511282	0.53998	D	-0.164528674797299	0.34619	1.978162	-0.0849066015028079	0.36013	2.090508	0.999994485654361	0.74766	0.533608	0.22052	0	0.573888	0.26702	0	0.602189	0.34648	0	0.638833	0.57524	0	.	.	6.06	2.06	0.25932	4.302000	0.58887	5.828000	0.50139	-0.193000	0.09282	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.5845:0.4155:0.0:0.0	12.056	0.52836	840	0.37365	PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015106	0.025253	0.021739	0.017544	0.050000	0.034483	0.000000	0.000000	0.07143	243.83	21	chr5	32058097	.	A	C	243.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.703;DP=169;ExcessHet=0;FS=5.076;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-0.565;SOR=0.124	GT:AD:DP:GQ:PL	0/0:29,0:29:72:0,72,1080	6	0	1	0
chr5	32397268	32397268	T	C	exonic	ZFR	.	nonsynonymous SNV	ZFR:NM_016107:exon10:c.A1784G:p.N595S	.	.	.	.	.	.	.	.	.	.	.	2135684	not_specified|Pure_or_complex_autosomal_recessive_spastic_paraplegia	MedGen:CN169374|MedGen:C5679887,Orphanet:320346	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.253	0.0152226984473	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs368796563	6.844e-06	6.84e-06	8.171e-06	5.504e-06	4.481e-05	3.46e-06	2.52e-06	7.43e-06	2.78e-06	0	4.481e-05	3.828e-05	0	0	0	6.297e-06	0	0	1.971e-05	1.97e-05	2.569e-05	1.345e-05	4.409e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.007	0.59928	D	0.023	0.57104	D	0.997	0.70673	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.12	0.58754	M	2.1	0.19990	T	-4.11	0.74980	D	0.672	0.67995	-0.9959	0.31055	T	0.129	0.43848	T	10	0.6436486	0.69200	D	0.015223	0.35825	T	0.253	0.56294	.	.	0.428492896387	0.42465	0.7767164747539894	0.77621	0.632130955579	0.57156	0.798129916191	0.81678	T	0.547172	0.84601	D	-0.224888	0.17331	T	-0.384965	0.35141	T	0.510986414376882	0.33034	D	0.977602	0.92086	D	0.363441	0.58096	0.37852016	0.62927	0.363441	0.58097	0.37852016	0.62927	-11.634	0.83023	D	.	.	0.930	0.85048	P	.	.	3.955470	0.57980	23.9	0.99885846524142274	0.96126	0.99190	0.92559	D	AEFBI	0.877764	0.80260	D	0.750429687666853	0.82933	7.886872	0.745229865683857	0.85801	8.690067	0.99999999999258	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	7.914000	0.86883	7.898000	0.73400	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.747	0.77722	515	0.74782	Zinc finger C2H2-type|Zinc finger C2H2-type|Matrin/U1-C-like, C2H2-type zinc finger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	906.83	34	chr5	32397268	.	T	C	906.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.52;DP=247;ExcessHet=0;FS=0.849;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-0.481;SOR=0.859	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1155	6	0	1	0
chr5	34945802	34945802	A	G	exonic	DNAJC21	.	nonsynonymous SNV	DNAJC21:NM_001012339:exon9:c.A1184G:p.Q395R,DNAJC21:NM_001348420:exon9:c.A1223G:p.Q408R,DNAJC21:NM_194283:exon9:c.A1184G:p.Q395R	Bone marrow failure syndrome 3, Autosomal recessive	.	.	.	.	.	.	.	0.9652	0.688	.	1367505	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.040	0.0172814356619	.	.	4.162e-05	9.966e-05	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs147371433	1.68e-05	2.121e-05	9.753e-06	2.392e-05	0.0002	1.137e-05	9.55e-06	3.183e-05	2.161e-05	0	5.391e-05	0	0	0	0.0002	1.092e-05	5.097e-05	7.482e-05	6.572e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.327	0.33585	T	0.537	0.10857	T	0.183	0.39849	B	0.039	0.35463	B	0.001461	0.38917	N	0.328937	0.901002	0.27700	N	2.44	0.70756	M	0.95	0.43672	T	-1.27	0.31981	N	0.295	0.33796	-0.9942	0.31512	T	0.095	0.35818	T	10	0.110030234	0.20549	T	0.017281	0.38914	T	0.040	0.10527	0.198	0.11110	0.37568098594	0.37176	0.04510782210456495	0.04454	0.0656204271622	0.07319	0.422485202551	0.28178	T	0.03599	0.23931	T	-0.322519	0.06693	T	-0.421618	0.30890	T	0.11192549020052	0.13621	T	0.39666	0.10241	T	0.09619939	0.22654	0.07737239	0.17230	0.09619939	0.22653	0.07737239	0.17229	-4.962	0.36425	T	.	.	0.077	0.12607	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.138890	0.42441	21.5	0.97522905041611641	0.34416	0.85695	0.44856	D	AEFBI	0.260544	0.37867	N	0.104542343337294	0.46675	2.904228	0.21031313931907	0.50420	3.234136	0.998358129652314	0.36814	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.63	4.41	0.52588	1.800000	0.38469	4.981000	0.46462	0.756000	0.94297	0.976000	0.34826	1.000000	0.68203	0.929000	0.46594	0.8518:0.1482:0.0:0.0	11.565	0.50054	545	0.72614	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.050000	0.000000	0.000000	0.000000	0.08333	662.27	36	chr5	34945802	.	A	G	662.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.311;DP=234;ExcessHet=0;FS=0.903;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=1.43;SOR=0.502	GT:AD:DP:GQ:PL	0/1:40,33:73:99:672,0,1087	5	0	1	1
chr5	35010069	35010069	A	C	exonic	AGXT2	.	nonsynonymous SNV	AGXT2:NM_001306173:exon10:c.T1044G:p.D348E,AGXT2:NM_031900:exon12:c.T1269G:p.D423E	.	422	1094	5	1	0	7	0.00318907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503	.	7.7e-05	0.0091853	0.0042	0.0002	0.0002	0	0	1.498e-05	0.0033	0.0305	0.003758	581	154602	rs199631717	0.0019	0.0019	0.0010	0.0027	0.0300	0.0018	0.0018	0.0290	0.0286	2.987e-05	2.236e-05	3.826e-05	0.0001	0	0.0007	7.194e-06	0.0018	0.0300	0.0011	0.0011	0.0007	0.0014	0.0325	0.0009	0.0009	0.0284	0.0268	7.213e-05	0	6.539e-05	0	0	0	0	1.47e-05	0	0.0325	0.28	0.15509	T	0.372	0.22084	T	0.205	0.29827	B	0.143	0.33763	B	0.000000	0.84330	D	0.044760	0.999881	0.50402	D	0.275	0.09989	N	-1.96	0.85091	D	-2.1	0.49352	N	0.26	0.33687	-0.3860	0.72466	T	0.464	0.79257	T	10	0.0077031255	0.00175	T	.	.	.	0.503	0.78538	0.352	0.35084	0.892621498136	0.89155	0.6005195315545766	0.59982	0.0779575711569	0.08777	0.416446477175	0.27348	T	0.179583	0.53062	T	-0.284612	0.10185	T	-0.15929	0.58416	T	0.0795240677794857	0.09925	T	0.792521	0.43410	T	0.13472976	0.31292	0.22514628	0.47450	0.13472976	0.31292	0.22514628	0.47449	-3.43	0.16614	T	.	.	0.105	0.28116	B	.;.;.	.;.;.	1.405033	0.18197	13.60	0.81092399111159652	0.13516	0.82681	0.41875	D	AEFBI	0.613159	0.60096	D	-0.125742201064898	0.36273	2.094512	-0.0340773496550493	0.38185	2.246245	0.982302669044052	0.30380	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.67	3.19	0.35720	1.639000	0.36791	0.336000	0.17333	0.756000	0.94297	1.000000	0.71638	0.546000	0.25442	0.968000	0.53726	0.7894:0.0:0.2106:0.0	9.282	0.36896	722	0.55239	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004032	0.000000	0.000000	0.005848	0.000000	0.000000	0.003067	0.015152	0.07143	683.63	40	chr5	35010069	.	A	C	683.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.4;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=0.203;SOR=0.581	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	6	0	1	0
chr5	35659080	35659080	G	A	exonic	SPEF2	.	nonsynonymous SNV	SPEF2:NM_024867:exon8:c.G1040A:p.R347K,SPEF2:NM_144722:exon8:c.G1040A:p.R347K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.0264086788072	.	.	0.0002	0	0.0002	0	0	1.504e-05	0.0011	0.0016	0.000194	30	154602	rs748374856	9.664e-05	9.713e-05	2.182e-05	0.0002	0.0016	8.326e-05	7.864e-05	0.0014	0.0013	0	0	0	0	0	0.0002	9.007e-07	1.659e-05	0.0016	4.597e-05	4.593e-05	2.571e-05	6.714e-05	0.0014	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	0.104	0.32296	T	0.114	0.43721	T	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.996145	0.43041	D	2.72	0.79541	M	2.33	0.16492	T	-2.47	0.53898	N	0.803	0.83269	-1.0867	0.06102	T	0.111	0.39959	T	10	0.07729897	0.12183	T	0.026409	0.49319	D	0.263	0.57612	0.378	0.39319	0.628610474668	0.62557	0.3332152558935001	0.33234	0.117304707431	0.13220	0.72906935215	0.71370	T	0.088273	0.57381	T	-0.271243	0.11618	T	-0.181413	0.56393	T	0.284479054460519	0.24359	T	0.879412	0.60074	D	0.43955135	0.63373	0.38597187	0.63501	0.43955135	0.63374	0.38597187	0.63501	-7.955	0.65563	D	.	.	0.477	0.70763	A	.;.;.;.;.	.;.;.;.;.	4.893991	0.80374	27.3	0.99732125801869409	0.82833	0.98725	0.86057	D	AEFGI	0.885087	0.81532	D	0.774274092738843	0.84472	8.297716	0.772269717307212	0.87808	9.351883	0.999999999989587	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.34	5.34	0.75982	9.123000	0.93696	11.821000	0.97240	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.045	0.92996	581	0.69614	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1579.53	34	chr5	35659080	.	G	A	1579.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.04;DP=295;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=1.11;SOR=0.752	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1075	6	0	1	0
chr5	35705792	35705792	A	-	exonic	SPEF2	.	frameshift deletion	SPEF2:NM_024867:exon18:c.2649delA:p.K886Rfs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0120	.	0.0046	0.0030	0.0038	0.0026	0.0021	0.0055	0.0045	0.0050	.	.	.	rs750890082	0.0008	0.0068	0.0008	0.0008	0.0025	0.0008	0.0008	0.0020	0.0018	0.0011	0.0025	0.0012	0.0010	0.0006	0.0002	0.0007	0.0010	0.0014	0	7.326e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	37.4	33	chr5	35705791	.	CA	C	37.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.383;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1137	6	0	1	0
chr5	36301338	36301338	G	A	exonic	RANBP3L	.	nonsynonymous SNV	RANBP3L:NM_001161429:exon1:c.C79T:p.R27W,RANBP3L:NM_001323273:exon1:c.C79T:p.R27W,RANBP3L:NM_001323274:exon1:c.C79T:p.R27W,RANBP3L:NM_001323275:exon1:c.C79T:p.R27W,RANBP3L:NM_001323276:exon1:c.C79T:p.R27W,RANBP3L:NM_001323277:exon1:c.C79T:p.R27W,RANBP3L:NM_001323278:exon1:c.C79T:p.R27W,RANBP3L:NM_001323279:exon1:c.C79T:p.R27W,RANBP3L:NM_001323280:exon1:c.C79T:p.R27W,RANBP3L:NM_145000:exon1:c.C79T:p.R27W	.	428	1089	5	0	0	5	0.00229043	.	.	.	2397023	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.0116513581002	7.7e-05	0.000199681	0.0002	9.612e-05	0.0003	0	0	0.0003	0	0.0001	0.000194	30	154602	rs199744327	0.0003	0.0003	0.0002	0.0003	0.0035	0.0002	0.0002	0.0023	0.0019	0.0002	0.0002	0	0.0001	1.874e-05	0.0035	0.0003	0.0003	5.798e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	0.0001	0	0.0001	0	0.0004	0	0.0034	0.0003	0	0	0.03	0.56456	D	0.022	0.66756	D	0.0	0.02946	B	0.0	0.01387	B	0.006562	0.01131	N	2.757700	1	0.08975	N	0.69	0.16971	N	1.83	0.49068	T	-1.44	0.50337	N	0.106	0.09490	-1.0038	0.28814	T	0.100	0.37290	T	10	0.02332297	0.00607	T	0.011651	0.29486	T	0.081	0.23632	.	.	0.0846915920261	0.08053	0.11250574355419879	0.11179	0.100410451016	0.11348	0.178125739098	0.00078	T	0.006657	0.06088	T	-0.391404	0.02635	T	-0.483845	0.24038	T	0.0394194445153502	0.03586	T	0.651035	0.29475	T	0.069856755	0.15340	0.06948678	0.14648	0.069856755	0.15340	0.06948678	0.14647	-5.043	0.37304	T	.	.	0.085	0.11317	B	.;.;.;.	.;.;.;.	2.124432	0.27044	17.33	0.98994177077715184	0.50003	0.04400	0.09985	N	AEFDGBI	0.126166	0.24298	N	-0.78030788468535	0.13823	0.6838528	-0.758512872852891	0.15513	0.8162614	0.999997987163053	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.18	3.37	0.37692	0.454000	0.21539	2.420000	0.32683	0.676000	0.76740	0.000000	0.06391	0.578000	0.25607	0.065000	0.16320	0.0915:0.1733:0.7352:0.0	7.099	0.24506	684	0.59539	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	911.46	42	chr5	36301338	.	G	A	911.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.21;DP=316;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=0.438;SOR=0.745	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	6	0	1	0
chr5	36976312	36976312	G	C	exonic	NIPBL	.	nonsynonymous SNV	NIPBL:NM_015384:exon9:c.G1405C:p.V469L,NIPBL:NM_133433:exon9:c.G1405C:p.V469L	Cornelia de Lange syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.0406808251233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	6.568e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.011	0.55530	D	0.283	0.36365	T	0.043	0.24078	B	0.011	0.20508	B	0.000063	0.52346	D	0.128294	0.999708	0.48408	D	1.61	0.41143	L	-3.35	0.94022	D	-0.52	0.16187	N	0.585	0.60579	0.043	0.83110	D	0.661	0.88235	D	10	0.32050586	0.49425	T	0.040681	0.59509	D	0.343	0.66488	0.25	0.18757	0.879801803537	0.87862	0.410959878834727	0.41011	0.237173385282	0.26261	0.753291904926	0.74932	T	0.18814	0.54196	T	0.196373	0.73552	D	0.0442995	0.73208	D	0.69907339231432	0.40675	D	0.947805	0.79866	D	0.13591537	0.31528	0.17231335	0.39477	0.13591537	0.31527	0.17231335	0.39476	-4.229	0.27169	T	.	.	0.624	0.70897	P	.;.	.;.	4.008901	0.59128	24.1	0.99731517772583023	0.82833	0.99456	0.96256	D	AEFBI	0.873692	0.79619	D	0.100524658377244	0.46485	2.888287	0.32136463555838	0.56798	3.843655	0.999999999999868	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	9.567000	0.97303	11.883000	0.98886	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.567	0.95391	130	0.94779	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	265.57	88	chr5	36976312	.	G	C	265.57	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-2.383;DP=583;ExcessHet=0.4139;FS=371.369;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=1.97;SOR=7.613	GT:AD:DP:GQ:PL	./.:83,0:83:0:0,0,1345	2	0	2	3
chr5	38407879	38407879	G	T	exonic	EGFLAM	.	nonsynonymous SNV	EGFLAM:NM_182798:exon4:c.G520T:p.A174S,EGFLAM:NM_001205301:exon9:c.G1222T:p.A408S,EGFLAM:NM_152403:exon9:c.G1222T:p.A408S	.	426	1083	13	0	0	13	0.00596604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.0162415949113	0.0008	0.000399361	0.0004	0	0.0004	0.0001	0	0.0006	0	0.0003	0.0004463	69	154602	rs144280109	0.0004	0.0004	0.0003	0.0004	0.0108	0.0004	0.0004	0.0086	0.0078	0.0004	0.0003	0.0023	0	0	0.0108	0.0003	0.0009	0.0006	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0003	0.0002	4.816e-05	0	0.0006	0.0032	0	0	0.0136	0.0004	0.0009	0.0002	0.634	0.05091	T	0.654	0.06713	T	0.002	0.12183	B	0.003	0.12133	B	0.000052	0.53742	N	0.162320	0.503064	0.81001	D	-0.79	0.01637	N	-1.18	0.78314	T	0.77	0.01949	N	0.259	0.31027	-1.0231	0.22704	T	0.107	0.38979	T	10	0.010558546	0.00234	T	0.016242	0.37399	T	0.180	0.45073	.	.	0.3349148499	0.33108	0.2054628426780773	0.20463	0.083793042556	0.09449	0.48125243187	0.36230	T	0.086423	0.37720	T	-0.391856	0.02617	T	-0.457919	0.26827	T	0.0431086848799144	0.04258	T	0.80472	0.45238	T	0.056799863	0.11223	0.07393864	0.16121	0.056799863	0.11223	0.07393864	0.16121	-7.767	0.63102	D	.	.	0.088	0.11797	B	.;.;.	.;.;.	1.851629	0.23525	16.05	0.82680945385347615	0.14319	0.86212	0.45450	D	AEFBI	0.430607	0.49324	N	-0.610719799446432	0.18622	0.9682474	-0.355318616066524	0.26346	1.454564	0.981228701734756	0.30234	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.53	2.62	0.30337	2.879000	0.48220	3.275000	0.37188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2061:0.0:0.3535:0.4404	2.748	0.04947	845	0.36510	Laminin G domain|Laminin G domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.010101	0.009511	0.043860	0.000000	0.025862	0.000000	0.003788	0.07143	1114.44	33	chr5	38407879	.	G	T	1114.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.695;DP=295;ExcessHet=0;FS=4.61;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=-1.113;SOR=0.845	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1406	6	0	1	0
chr5	38933018	38933018	-	TATC	exonic	OSMR	.	frameshift insertion	OSMR:NM_001323505:exon18:c.2514_2515insTATC:p.L841Sfs*18,OSMR:NM_001323506:exon18:c.2517_2518insTATC:p.L842Sfs*18,OSMR:NM_003999:exon18:c.2514_2515insTATC:p.L841Sfs*18	Amyloidosis, primary localized cutaneous, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.239e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs767494092	1.026e-05	1.026e-05	6.806e-06	1.375e-05	0.0001	6.16e-06	4.89e-06	7.997e-05	6.236e-05	0	0	0	0	0	0	0	4.967e-05	0.0001	1.314e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	7.299e-05	3.032e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	768.79	33	chr5	38933018	.	T	TTATC	768.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.172;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.22;ReadPosRankSum=-0.487;SOR=0.892	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1216	6	0	1	0
chr5	38933380	38933380	C	G	exonic	OSMR	.	nonsynonymous SNV	OSMR:NM_001323505:exon18:c.C2876G:p.P959R,OSMR:NM_001323506:exon18:c.C2879G:p.P960R,OSMR:NM_003999:exon18:c.C2876G:p.P959R	Amyloidosis, primary localized cutaneous, 1, Autosomal dominant	1	1361	149	11	0	171	0.0591082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0052	0.00838658	0.0113	0.0013	0.0119	0.0001	0.0029	0.0081	0.0198	0.0388	0.0100775	1558	154602	rs34080825	0.0081	0.0081	0.0068	0.0095	0.0468	0.0080	0.0079	0.0422	0.0404	0.0009	0.0093	0.0258	0.0001	0.0022	0.0468	0.0056	0.0099	0.0408	0.0065	0.0065	0.0060	0.0071	0.0330	0.0062	0.0060	0.0289	0.0273	0.0011	0	0.0092	0.0248	0.0004	0.0040	0.0646	0.0070	0.0095	0.0330	0.061	0.37118	T	0.099	0.38891	T	0.845	0.46707	P	0.467	0.46683	P	0.396557	0.04509	N	1.368040	1	0.08975	N	1.78	0.46185	L	1.06	0.39781	T	-1.96	0.45404	N	0.081	0.05670	-1.0181	0.24334	T	0.066	0.27052	T	10	0.0029414892	0.00047	T	.	.	.	0.053	0.14996	.	.	.	.	0.14100321930981063	0.14023	0.237616639877	0.26298	0.225426003337	0.01647	T	0.135175	0.46684	T	-0.569761	0.00222	T	-0.56263	0.16131	T	0.0126930513815079	0.00213	T	0.326967	0.06756	T	0.039785415	0.05556	0.073263034	0.15901	0.035993196	0.04343	0.073263034	0.15901	-4.86	0.35282	T	.	.	0.086	0.10835	B	.	.	1.366445	0.17758	13.35	0.93641793816937802	0.23520	0.23376	0.22056	N	AEFDGBI	0.077479	0.15610	N	-0.35203401344841	0.27197	1.490269	-0.476864511363895	0.22792	1.23975	0.99880471190545	0.37711	0.614807	0.35715	0	0.588015	0.36545	0	0.616094	0.41390	0	0.636168	0.56350	0	.	.	5.79	2.64	0.30504	0.371000	0.20182	0.714000	0.20960	-0.175000	0.10903	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.7212:0.0:0.2788	8.229	0.30746	261	0.89765	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.029204	0.030303	0.021739	0.029240	0.000000	0.017241	0.048780	0.041667	0.1429	2554.29	89	chr5	38933380	.	C	G	2554.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.692;DP=385;ExcessHet=0.3476;FS=0.482;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=0.332;SOR=0.75	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1216	5	0	2	0
chr5	39383073	39383073	G	A	exonic	DAB2	.	nonsynonymous SNV	DAB2:NM_001244871:exon9:c.C823T:p.R275C,DAB2:NM_001343:exon10:c.C886T:p.R296C	.	422	1099	1	0	0	1	0.000454752	.	.	.	709920	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.045	.	0.0050	0.0081869	0.0027	0.0166	0.0010	0.0150	0	4.495e-05	0	0.0004	0.0024773	383	154602	rs79344176	0.0010	0.0010	0.0010	0.0009	0.0189	0.0009	0.0009	0.0177	0.0172	0.0189	0.0006	0	0.0150	1.872e-05	0.0005	1.169e-05	0.0016	0.0004	0.0052	0.0052	0.0054	0.0048	0.0167	0.0049	0.0047	0.0156	0.0152	0.0167	0	0.0013	0	0.0120	0	0	7.351e-05	0.0024	0	0.167	0.29554	T	0.106	0.39340	T	0.523	0.37559	P	0.122	0.32387	B	0.000001	0.62929	N	0.054376	0.999996	0.81001	D	1.79	0.46772	L	1.01	0.41058	T	-1.6	0.38540	N	0.522	0.56317	-1.0880	0.05873	T	0.036	0.15334	T	10	0.00784722	0.00178	T	.	.	.	0.045	0.12272	.	.	0.452650218784	0.44890	0.3557649943223402	0.35490	0.377479978467	0.39179	0.426284730434	0.28700	T	0.406668	0.76250	T	-0.472347	0.00822	T	-0.437644	0.29072	T	0.0201326593684953	0.00714	T	0.913909	0.69637	D	0.09828568	0.23180	0.06538869	0.13246	0.09828568	0.23179	0.06538869	0.13245	-5.318	0.44548	T	.	.	0.102	0.29588	B	.;.;.	.;.;.	4.243111	0.64342	24.7	0.98449192221071924	0.41598	0.80714	0.40281	D	AEFGBCI	0.689714	0.65028	D	-0.111454323652253	0.36894	2.13878	0.0367786518032509	0.41437	2.489425	0.999995903949419	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.597571	0.31856	0	0.711	0.71501	0	.	.	5.73	4.86	0.62624	2.438000	0.44495	5.916000	0.51093	-0.107000	0.15377	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.1443:0.0:0.7082:0.1475	7.176	0.24921	578	0.69858	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.1429	3410.24	35	chr5	39383073	.	G	A	3410.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.14;DP=444;ExcessHet=0.3476;FS=0.895;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=1.01;SOR=0.754	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1169	5	0	2	0
chr5	40774942	40774942	C	A	exonic	PRKAA1	.	nonsynonymous SNV	PRKAA1:NM_206907:exon4:c.G394T:p.G132C	.	436	1085	1	0	0	1	0.000460617	.	.	.	3378139	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.344	0.465071154344	.	0.000199681	0.0001	0.0001	0	0	0	0.0002	0	0	0.00011	17	154602	rs201703990	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	9.36e-05	8.763e-05	0.0002	2.251e-05	0.0019	0	0	0.0003	0.0001	0.0004	2.333e-05	0.0001	0.0001	0.0001	0.0002	7.351e-05	8.661e-05	7.253e-05	2.847e-05	1.858e-05	4.812e-05	0	0	0.0035	0	0	0	7.351e-05	0.0005	0	0.015	0.52492	D	0.024	0.56640	D	0.88	0.48402	P	0.678	0.53406	P	0.428255	0.12781	N	0.713752	1	0.81001	D	.	.	.	-0.88	0.74689	T	-0.1	0.08495	N	0.503	0.53532	-0.2538	0.76257	T	0.428	0.77094	T	9	0.15928036	0.29931	T	0.465071	0.94581	D	0.344	0.66582	.	.	0.604137120487	0.60097	0.5877501195119226	0.58705	0.74945927493	0.63696	0.465394496918	0.34049	T	.	.	.	-0.194769	0.21561	T	-0.28088	0.46715	T	0.237412884831429	0.22300	T	0.510849	0.16306	T	.	.	.	.	.	.	.	.	-5.111	0.38023	T	.	.	0.092	0.13783	B	.	.	2.713390	0.35474	19.91	0.98721752399731488	0.45215	0.65359	0.32711	D	AEFBCI	0.160516	0.28646	N	0.29736300350117	0.56014	3.765682	0.284117246104348	0.54611	3.625656	0.99999981029218	0.74766	0.656854	0.48797	0	0.69481	0.67340	0	0.670488	0.60580	0	0.636168	0.56350	0	.	.	4.5	3.63	0.40741	1.947000	0.39919	3.554000	0.39061	0.549000	0.26987	0.983000	0.35670	1.000000	0.68203	0.993000	0.69303	0.0:0.8922:0.0:0.1078	8.267	0.30979	357	0.85079	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.1429	33.22	33	chr5	40774942	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1022	6	1	0	0
chr5	41909782	41909782	C	A	exonic	C5orf51	.	nonsynonymous SNV	C5orf51:NM_175921:exon3:c.C244A:p.L82I	.	531	979	10	2	0	14	0.00709939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	.	0.0041	0.00339457	0.0040	0.0013	0.0030	0	0.0014	0.0056	0.0068	0.0029	0.0039068	604	154602	rs142045369	0.0055	0.0056	0.0055	0.0055	0.0132	0.0054	0.0053	0.0107	0.0098	0.0010	0.0032	0.0027	2.637e-05	0.0014	0.0132	0.0062	0.0072	0.0033	0.0041	0.0041	0.0042	0.0040	0.0064	0.0038	0.0037	0.0059	0.0057	0.0012	0.0022	0.0057	0.0017	0	0.0007	0	0.0064	0.0088	0.0034	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000001	0.84330	D	0.000000	0.999628	0.47904	D	2.25	0.63811	M	1.34	0.34841	T	-1.71	0.40660	N	0.719	0.72120	-0.9963	0.30946	T	0.101	0.37518	T	10	0.007929176	0.00180	T	.	.	.	0.283	0.60100	.	.	0.547083200336	0.54363	0.23809063725820026	0.23723	0.606290883428	0.55480	.	.	.	0.189067	0.54693	T	-0.274806	0.11227	T	-0.16379	0.58008	T	0.024932640072346	0.01264	T	0.879912	0.59649	D	0.5726996	0.71208	0.49994475	0.71089	0.5726996	0.71209	0.49994475	0.71090	-4.605	0.32234	T	.	.	0.742	0.74727	P	.;.	.;.	3.557139	0.50028	22.9	0.99489200100070396	0.67347	0.94387	0.61003	D	AEFBI	0.441208	0.49945	N	0.375621841986789	0.60102	4.195765	0.35053941705062	0.58539	4.025125	0.999961389151402	0.48965	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.18	3.4	0.38031	2.900000	0.48386	1.789000	0.28782	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.8442:0.0:0.1558	10.143	0.41921	412	0.82007	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014127	0.005155	0.010870	0.043860	0.000000	0.017241	0.015244	0.011364	0.08333	505.27	24	chr5	41909782	.	C	A	505.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.826;DP=214;ExcessHet=0;FS=4.055;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=-0.08;SOR=0.439	GT:AD:DP:GQ:PL	0/1:24,25:49:99:515,0,645	5	0	1	1
chr5	42711274	42711274	G	A	exonic	GHR	.	nonsynonymous SNV	GHR:NM_001242460:exon5:c.G620A:p.R207H,GHR:NM_001242406:exon6:c.G686A:p.R229H,GHR:NM_001242462:exon6:c.G686A:p.R229H,GHR:NM_000163:exon7:c.G686A:p.R229H,GHR:NM_001242399:exon7:c.G707A:p.R236H,GHR:NM_001242402:exon7:c.G686A:p.R229H,GHR:NM_001242403:exon7:c.G686A:p.R229H,GHR:NM_001242404:exon7:c.G686A:p.R229H,GHR:NM_001242405:exon7:c.G686A:p.R229H,GHR:NM_001242400:exon8:c.G686A:p.R229H,GHR:NM_001242401:exon8:c.G686A:p.R229H	Growth hormone insensitivity, partial;Increased responsiveness to growth hormone (3);Laron dwarfism, Autosomal recessive	1	1499	22	0	0	22	0.00728477	.	.	.	265893	not_provided|not_specified|Short_stature_due_to_partial_GHR_deficiency|Laron-type_isolated_somatotropin_defect	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011420,MedGen:C1858656,OMIM:604271,Orphanet:314802,Orphanet:314811|MONDO:MONDO:0009877,MedGen:C0271568,OMIM:262500,Orphanet:633	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.808	0.0891640989754	0.0011	0.000798722	0.0013	0.0007	0.0013	0	0	0.0011	0.0022	0.0038	0.0011966	185	154602	rs6177	0.0008	0.0009	0.0007	0.0010	0.0080	0.0008	0.0008	0.0062	0.0055	0.0009	0.0014	0.0015	0	0	0.0080	0.0006	0.0016	0.0035	0.0008	0.0008	0.0007	0.0009	0.0017	0.0007	0.0006	0.0008	0.0006	0.0006	0.0011	0.0010	0.0023	0	9.427e-05	0.0102	0.0008	0.0024	0.0017	0.0	0.91255	D	0.318	0.76473	T	0.999	0.77913	D	0.703	0.54270	P	0.000004	0.62929	D	0.059628	1	0.81001	D	1.8	0.47472	L	-3.4	0.94260	D	-2.04	0.46842	N	0.533	0.63883	0.668	0.92766	D	0.814	0.93719	D	10	0.017771393	0.00381	T	0.089164	0.75273	D	0.808	0.93777	.	.	0.962138920921	0.96173	0.5664631436302645	0.56574	0.0555361329645	0.06140	0.433992952108	0.29755	T	0.410939	0.76553	T	0.124364	0.66809	D	0.404074	0.92243	D	0.0636626687296192	0.07732	T	0.977402	0.93081	D	0.6612151	0.75964	0.4502998	0.68010	0.6490725	0.75316	0.49604318	0.70857	-10.171	0.74929	D	0.5075309644939106	0.58176	0.183	0.48551	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.881359	0.80062	27.2	0.99934152013492705	0.99535	0.94192	0.60392	D	AEFI	0.757768	0.69662	D	0.565633455196316	0.71040	5.590686	0.577758325565778	0.73350	5.955826	0.999580486071164	0.40607	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.21	5.21	0.72005	4.957000	0.63358	7.492000	0.59381	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91844	496	0.76301	Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.014946	0.005848	0.050000	0.000000	0.006098	0.000000	0.1429	2076.65	74	chr5	42711274	.	G	A	2076.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.46;DP=326;ExcessHet=0.3476;FS=3.317;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=-0.79;SOR=0.62	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1106	5	0	2	0
chr5	43556686	43556686	A	-	exonic	PAIP1	.	frameshift deletion	PAIP1:NM_006451:exon1:c.161delT:p.L54Rfs*41	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	34.79	12	chr5	43556685	.	CA	C	34.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.677;DP=109;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.09;MQRankSum=0.671;QD=2.9;ReadPosRankSum=-1.614;SOR=0.693	GT:AD:DP:GQ:PL	0/0:26,0:26:63:0,63,945	6	0	1	0
chr5	53048657	53048657	A	G	exonic	ITGA2	.	nonsynonymous SNV	ITGA2:NM_002203:exon6:c.A517G:p.I173V	.	0	1487	33	2	0	37	0.0122883	.	.	.	299875	Platelet-type_bleeding_disorder_9|not_provided	MONDO:MONDO:0013622,MedGen:C3280114,OMIM:614200,Orphanet:73271,Orphanet:98886|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.077	0.00869945483086	0.0027	0.00239617	0.0032	0.0009	0.0021	0	0	0.0031	0.0055	0.0086	0.0030013	464	154602	rs55973669	0.0029	0.0029	0.0026	0.0033	0.0099	0.0029	0.0028	0.0093	0.0091	0.0004	0.0031	0.0047	2.519e-05	0.0003	0.0099	0.0026	0.0031	0.0098	0.0026	0.0026	0.0024	0.0028	0.0083	0.0024	0.0023	0.0063	0.0056	0.0007	0.0066	0.0069	0.0055	0.0002	9.461e-05	0.0068	0.0026	0.0043	0.0083	0.263	0.16412	T	0.207	0.26969	T	.	.	.	.	.	.	0.000001	0.62929	N	0.098626	0.94738	0.37566	D	.	.	.	0.59	0.53943	T	-0.25	0.11008	N	0.12	0.11054	-1.0351	0.18825	T	0.057	0.24018	T	10	0.00892508	0.00202	T	0.008699	0.22976	T	0.077	0.22490	.	.	0.594311586281	0.59109	0.286997681205675	0.28612	0.143906014604	0.16252	0.31325045228	0.12398	T	.	.	.	-0.542054	0.00326	T	-0.544719	0.17836	T	0.00466965039524367	0.00050	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.25364	B	.	.	1.849660	0.23498	16.04	0.98223612721775777	0.39325	0.96449	0.69194	D	AEFBI	0.335782	0.43411	N	-0.468449192676952	0.23120	1.239301	-0.27737536356029	0.28844	1.61147	0.999168070309967	0.38622	0.732398	0.92422	0	0.59043	0.45803	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	5.28	2.93	0.33092	4.018000	0.56886	4.046000	0.41467	0.756000	0.94297	0.999000	0.42656	0.998000	0.33993	0.973000	0.55318	0.7856:0.0:0.2144:0.0	8.515	0.32403	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.008056	0.010101	0.002717	0.005848	0.000000	0.008621	0.018293	0.007576	0.07143	1011.46	34	chr5	53048657	.	A	G	1011.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.717;DP=273;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.103;SOR=0.701	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	6	0	1	0
chr5	53078860	53078860	A	G	exonic	ITGA2	.	nonsynonymous SNV	ITGA2:NM_002203:exon24:c.A2914G:p.I972V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0043289954532	.	.	1.669e-05	0	0	0	0	1.515e-05	0	6.134e-05	1.29e-05	2	154602	rs768656331	1.382e-05	1.368e-05	6.883e-06	2.08e-05	0.0002	9.02e-06	7.33e-06	0.0001	8.672e-05	3.02e-05	0	0	0	0	0.0002	2.728e-06	0	0.0002	6.567e-06	6.561e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.228	0.18434	T	0.741	0.04965	T	.	.	.	.	.	.	0.036651	0.24496	N	0.467241	0.996991	0.22829	N	.	.	.	0.96	0.42888	T	0.03	0.06612	N	0.162	0.17002	-1.0316	0.19937	T	0.043	0.18493	T	10	0.20453233	0.36648	T	0.004329	0.10529	T	0.077	0.22490	0.497	0.58678	0.722511151654	0.72006	0.43664687925086015	0.43581	0.142493270988	0.16072	0.321484804153	0.13647	T	.	.	.	-0.400373	0.02303	T	-0.609285	0.12043	T	0.0458547994494438	0.04757	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.03925	B	.	.	1.690701	0.21541	15.24	0.46914916789824296	0.03795	0.87389	0.46913	D	AEFBI	0.247855	0.36836	N	-0.508903291691409	0.21791	1.159063	-0.317421108530726	0.27535	1.528627	0.989529325078413	0.31854	0.706548	0.73137	0	0.59043	0.45803	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.86	0.782	0.17712	2.951000	0.48782	0.216000	0.16018	0.756000	0.94297	1.000000	0.71638	0.000000	0.08366	0.999000	0.91618	0.7356:0.0:0.2644:0.0	9.662	0.39127	843	0.36859	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	810.49	38	chr5	53078860	.	A	G	810.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.165;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=-0.521;SOR=0.717	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr5	55272147	55272147	G	A	exonic	DHX29	.	nonsynonymous SNV	DHX29:NM_001345964:exon18:c.C2651T:p.T884M,DHX29:NM_001345965:exon18:c.C896T:p.T299M,DHX29:NM_019030:exon18:c.C2804T:p.T935M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.872	0.454609514804	.	.	2.519e-05	0	0	0	0	4.567e-05	0	0	1.94e-05	3	154602	rs764979980	2.59e-05	2.805e-05	2.785e-05	2.394e-05	0.0004	1.911e-05	1.669e-05	6.145e-05	2.541e-05	0	2.576e-05	0	5.39e-05	0	0.0004	2.641e-05	1.694e-05	2.515e-05	1.315e-05	1.314e-05	0	2.694e-05	1.47e-05	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	4.65	0.99371	H	-0.94	0.75325	T	-5.89	0.88767	D	0.946	0.95374	0.796	0.94360	D	0.743	0.91216	D	10	0.92028034	0.91383	D	0.45461	0.94404	D	0.872	0.96170	.	.	0.965160772665	0.96479	0.8891540792296637	0.88884	0.885982533807	0.69996	0.890087544918	0.95271	D	0.831543	0.95983	D	0.336342	0.85591	D	0.384058	0.91574	D	0.998097598552704	0.93215	D	0.985001	0.94819	D	0.83544123	0.86284	0.6600412	0.80083	0.83544123	0.86285	0.6600412	0.80084	-9.959	0.73665	D	.	.	0.945	0.86413	P	.;.	.;.	5.635617	0.92705	32	0.99896337669223101	0.96895	0.98988	0.89600	D	AEFGBI	0.895026	0.83462	D	1.0910463921432	0.97964	17.12875	0.984378395948851	0.98302	17.91576	0.999999221684717	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.13	5.13	0.69729	9.529000	0.97109	11.801000	0.96654	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.949	0.92609	483	0.77230	Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	271.63	33	chr5	55272147	.	G	A	271.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.966;DP=198;ExcessHet=0;FS=1.483;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=-2.414;SOR=1.179	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1064	6	0	1	0
chr5	55916773	55916773	G	A	exonic	IL31RA	.	nonsynonymous SNV	IL31RA:NM_001242636:exon15:c.G1891A:p.E631K,IL31RA:NM_001242637:exon15:c.G1948A:p.E650K,IL31RA:NM_139017:exon15:c.G1948A:p.E650K,IL31RA:NM_001242639:exon16:c.G1522A:p.E508K,IL31RA:NM_001242638:exon17:c.G1891A:p.E631K	Amyloidosis, primary localized cutaneous, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	721483	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.093	.	0.0046	.	0.0013	0.0144	0.0003	0	0	2.997e-05	0.0022	0	0.0010673	165	154602	rs116001952	0.0005	0.0005	0.0005	0.0004	0.0153	0.0004	0.0004	0.0142	0.0138	0.0153	0.0006	0	0	0	0.0014	2.158e-05	0.0014	2.319e-05	0.0041	0.0041	0.0041	0.0040	0.0141	0.0038	0.0037	0.0132	0.0128	0.0141	0	0.0014	0	0	0	0	1.47e-05	0.0052	0.0002	0.106	0.31532	T	0.174	0.30729	T	0.225	0.30426	B	0.048	0.24975	B	0.389014	0.04466	N	1.347010	0.999996	0.08975	N	.	.	.	1.14	0.49358	T	-0.64	0.19297	N	0.247	0.32591	-0.9545	0.40185	T	0.093	0.35336	T	10	0.0035865307	0.00065	T	.	.	.	0.093	0.26882	.	.	0.0954503805726	0.09146	.	.	0.139291605927	0.15699	0.345459282398	0.17251	T	.	.	.	-0.520091	0.00440	T	-0.506225	0.21703	T	0.00437929097208699	0.00047	T	0.69563	0.30512	T	.	.	.	.	.	.	.	.	-3.546	0.18031	T	.	.	0.100	0.22428	B	.;.;.;.;.;.	.;.;.;.;.;.	2.591687	0.33622	19.39	0.99645285966178254	0.76943	0.53643	0.29421	D	AEFBI	0.088496	0.17940	N	-0.270429930073421	0.30295	1.687891	-0.207978134658715	0.31248	1.766679	0.999131278788209	0.38535	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.78	3.89	0.44098	2.027000	0.40699	4.051000	0.41508	0.676000	0.76740	0.936000	0.32490	1.000000	0.68203	0.061000	0.16044	0.0872:0.1661:0.7466:0.0	7.563	0.27027	907	0.22727	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.002717	0.002924	0.000000	0.008621	0.000000	0.000000	0.07143	1062.53	84	chr5	55916773	.	G	A	1062.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.03;DP=274;ExcessHet=0;FS=1.797;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.982;SOR=0.976	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	6	0	1	0
chr5	56911377	56911377	A	-	exonic	SETD9	.	frameshift deletion	SETD9:NM_001171990:exon2:c.307delA:p.R103Dfs*29,SETD9:NM_001323018:exon2:c.229delA:p.R77Dfs*29,SETD9:NM_001323019:exon2:c.307delA:p.R103Dfs*29,SETD9:NM_001323020:exon2:c.229delA:p.R77Dfs*29,SETD9:NM_153706:exon2:c.307delA:p.R103Dfs*29	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000798722	0.0002	9.694e-05	8.657e-05	0	0	0.0002	0.0011	0.0007	0.0002199	34	154602	rs575788115	0.0002	0.0002	0.0001	0.0002	0.0014	0.0002	0.0001	0.0007	0.0005	2.991e-05	0.0001	7.668e-05	0	3.746e-05	0.0014	0.0001	0.0003	0.0007	0.0001	0.0001	0.0001	0.0001	0.0008	7.573e-05	6.278e-05	0.0003	0.0002	4.813e-05	0	0.0001	0.0003	0.0002	0	0	0.0001	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002518	0.000000	0.002717	0.000000	0.000000	0.008621	0.006098	0.000000	0.08333	1189.23	72	chr5	56911376	.	CA	C	1189.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.662;DP=276;ExcessHet=0;FS=1.897;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.52;ReadPosRankSum=-0.017;SOR=0.827	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	5	0	1	1
chr5	57481797	57481797	C	T	exonic	ACTBL2	.	nonsynonymous SNV	ACTBL2:NM_001017992:exon1:c.G911A:p.S304N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.419	0.124140796541	.	.	.	.	.	.	.	.	.	.	.	.	.	rs987783633	8.209e-06	8.209e-06	1.225e-05	4.125e-06	2.987e-05	4.38e-06	3.46e-06	5.31e-06	3.88e-06	2.987e-05	0	0	0	0	0	9.892e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.42436	T	0.481	0.36761	P	0.334	0.42203	B	0.000036	0.55875	D	0.072099	0.928003	0.36882	D	1.335	0.33326	L	-3.43	0.94388	D	-1.13	0.29114	N	0.219	0.24510	0.722	0.93450	D	0.765	0.92005	D	10	0.40600935	0.55897	T	0.124141	0.80544	D	0.419	0.72855	0.435	0.48664	0.656546064563	0.65367	0.6248713337822507	0.62420	0.23079206429	0.25627	0.662833452225	0.61815	T	0.461455	0.79822	T	0.0112226	0.53192	T	-0.221656	0.52578	T	0.865759253501892	0.51585	D	0.89601	0.63722	D	0.54673064	0.69773	0.45166394	0.68098	0.54673064	0.69774	0.45166394	0.68099	-6.994	0.53990	T	.	.	0.339	0.55815	B	.	.	3.690888	0.52591	23.3	0.96973734728229843	0.31831	0.90104	0.51023	D	AEFGBI	0.673737	0.63969	D	0.283758568777706	0.55324	3.696617	0.357520941943456	0.58960	4.070228	0.999985209611685	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.76	3.85	0.43556	4.733000	0.61730	0.816000	0.21801	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.997000	0.79791	0.0:0.6916:0.3084:0.0	11.756	0.51142	858	0.34001	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	3804.23	33	chr5	57481797	.	C	T	3804.23	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.83;DP=304;ExcessHet=0;FS=3.439;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=32.51;ReadPosRankSum=-1.703;SOR=0.562	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1155	6	1	0	0
chr5	61332714	61332719	GGCGGC	-	exonic	ZSWIM6	.	nonframeshift deletion	ZSWIM6:NM_020928:exon1:c.442_447del:p.G153_G154del	Acromelic frontonasal dysostosis, Autosomal dominant	512	990	12	5	3	25	0.010989	.	.	.	215320	not_provided|not_specified|Inborn_genetic_diseases	MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1411012430	0.0049	0.0031	0.0047	0.0051	0.0224	0.0048	0.0047	0.0187	0.0180	0.0015	0.0224	0.0069	0	0	0.0097	0.0046	0.0055	0.0205	0.0042	0.0043	0.0036	0.0047	0.0208	0.0039	0.0038	0.0173	0.0160	0.0015	0	0.0097	0.0079	0.0005	0.0032	0.0045	0.0036	0.0043	0.0208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	183.49	15	chr5	61332713	.	GGGCGGC	G	183.49	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.383;DP=105;ExcessHet=0;FS=2.632;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.68;ReadPosRankSum=0.624;SOR=0.18	GT:AD:DP:GQ:PL	0/0:31,0:31:72:0,72,1080	5	0	1	1
chr5	62352635	62352635	T	C	exonic	KIF2A	.	nonsynonymous SNV	KIF2A:NM_001098511:exon5:c.T382C:p.S128P,KIF2A:NM_001243953:exon5:c.T382C:p.S128P,KIF2A:NM_004520:exon5:c.T382C:p.S128P,KIF2A:NM_001243952:exon6:c.T301C:p.S101P	Cortical dysplasia, complex, with other brain malformations 3, Autosomal dominant	434	1082	6	0	0	6	0.00276498	.	.	.	514284	KIF2A-related_disorder|Inborn_genetic_diseases|not_provided|Complex_cortical_dysplasia_with_other_brain_malformations_3	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0014170,MedGen:C3809414,OMIM:615411	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.196	0.0437086262933	0.0011	0.000998403	0.0015	0	0.0010	0	0	0.0022	0	0.0019	0.0007827	121	154602	rs138408434	0.0005	0.0005	0.0005	0.0006	0.0012	0.0005	0.0005	0.0010	0.0010	0	0.0006	0.0163	0	0	0.0003	0.0001	0.0016	0.0012	0.0007	0.0007	0.0007	0.0006	0.0015	0.0006	0.0005	0.0007	0.0005	2.407e-05	0	0.0009	0.0193	0	0	0	0.0002	0.0014	0.0015	0.322	0.17761	T	0.239	0.24913	T	0.0	0.02946	B	0.0	0.06944	B	0.002132	0.37183	N	0.327832	0.999286	0.46548	D	1.5	0.37844	L	-0.7	0.74477	T	-0.88	0.24460	N	0.327	0.38232	-0.7395	0.58478	T	0.197	0.55229	T	10	0.005432427	0.00120	T	0.043709	0.61120	D	0.196	0.47777	.	.	0.68396243137	0.68126	0.3770783692770645	0.37622	1.17466397314	0.79850	0.641527295113	0.58782	T	0.050762	0.28686	T	-0.309954	0.07752	T	-0.263555	0.48469	T	0.00603744325481615	0.00066	T	0.814719	0.46890	T	0.16261107	0.36349	0.12025484	0.29021	0.24766418	0.47747	0.13770947	0.32907	-3.639	0.20029	T	.	.	0.070	0.06803	B	.;.;.;.;.	.;.;.;.;.	2.859634	0.37778	20.6	0.89040319762152076	0.18461	0.94048	0.59956	D	AEFDBI	0.385087	0.46596	N	-0.448037651859291	0.23806	1.281076	-0.308507265791772	0.27823	1.546644	0.999511692613871	0.40117	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.16	3.92	0.44525	1.395000	0.34129	4.166000	0.42242	0.609000	0.47794	0.992000	0.37556	1.000000	0.68203	0.967000	0.53440	0.0:0.0:0.2941:0.7059	10.774	0.45538	872	0.31118	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.008621	0.009146	0.003788	0.07143	1020.44	36	chr5	62352635	.	T	C	1020.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.752;DP=276;ExcessHet=0;FS=2.791;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=-0.105;SOR=0.44	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1033	6	0	1	0
chr5	64213809	64213809	A	T	exonic	RNF180	.	nonsynonymous SNV	RNF180:NM_001113561:exon4:c.A483T:p.R161S,RNF180:NM_001323292:exon4:c.A483T:p.R161S,RNF180:NM_178532:exon4:c.A483T:p.R161S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.00694615058039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	1.361e-06	4.125e-06	3.478e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	1.656e-05	3.478e-05	6.564e-06	6.561e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.029	0.50132	D	0.193	0.28210	T	0.063	0.23376	B	0.022	0.19653	B	0.000325	0.45700	D	0.225617	1	0.81001	D	2.135	0.59519	M	0.9	0.45248	T	-0.87	0.30555	N	0.375	0.41754	-1.0360	0.18544	T	0.097	0.36315	T	10	0.15853018	0.29809	T	0.006946	0.18374	T	0.169	0.43123	0.173	0.07894	0.69073558454	0.68808	0.3526043766605974	0.35174	0.13547621356	0.15268	0.299977838993	0.10398	T	0.007095	0.06517	T	-0.0126463	0.49894	T	-0.255942	0.49228	T	0.651622712612152	0.38531	D	0.69863	0.30863	T	0.15705311	0.35409	0.17148396	0.39334	0.15705311	0.35408	0.17148396	0.39333	-2.592	0.07269	T	.	.	0.273	0.50708	B	.;.	.;.	2.203814	0.28108	17.69	0.98103433462395606	0.38294	0.77483	0.38102	D	AEFGBI	0.237750	0.35998	N	-0.12941183874101	0.36115	2.083296	0.0107640779916231	0.40214	2.396376	0.028920659430092	0.13858	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.56	4.41	0.52588	1.452000	0.34767	5.721000	0.49471	0.756000	0.94297	0.993000	0.37899	1.000000	0.68203	0.999000	0.91618	0.7881:0.1388:0.0731:0.0	7.821	0.28448	732	0.54084	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1239.44	33	chr5	64213809	.	A	T	1239.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.679;DP=299;ExcessHet=0;FS=2.516;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-2.063;SOR=0.626	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1223	6	0	1	0
chr5	65660736	65660736	A	G	exonic	TRAPPC13	.	nonsynonymous SNV	TRAPPC13:NM_001365342:exon8:c.A247G:p.M83V,TRAPPC13:NM_001365343:exon8:c.A247G:p.M83V,TRAPPC13:NM_001093756:exon9:c.A718G:p.M240V,TRAPPC13:NM_001243737:exon9:c.A718G:p.M240V,TRAPPC13:NM_001093755:exon10:c.A736G:p.M246V,TRAPPC13:NM_024941:exon10:c.A736G:p.M246V	.	433	1062	27	0	0	27	0.0125523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	.	0.0004	0.00259585	0.0026	0.0003	0.0007	0	0	0.0014	0.0046	0.0130	0.0022251	344	154602	rs201906257	0.0014	0.0014	0.0010	0.0018	0.0120	0.0014	0.0013	0.0114	0.0111	0.0002	0.0014	0.0050	5.05e-05	7.495e-05	0.0054	0.0006	0.0019	0.0120	0.0011	0.0011	0.0010	0.0012	0.0104	0.0010	0.0009	0.0081	0.0073	0.0002	0	0.0009	0.0046	0	0	0.0068	0.0010	0.0028	0.0104	0.293	0.14843	T	0.303	0.20164	T	0.04	0.21238	B	0.102	0.30857	B	0.000014	0.62929	D	0.179778	0.972853	0.38979	D	2.3	0.65703	M	.	.	.	-1.71	0.40660	N	0.537	0.56919	-0.9756	0.35993	T	0.125	0.43028	T	9	0.012631506	0.00271	T	.	.	.	0.340	0.66202	.	.	0.198222871337	0.19423	0.38801875383540524	0.38716	0.484728417222	0.47373	0.586839914322	0.51049	T	0.045821	0.27239	T	-0.317096	0.07139	T	-0.217875	0.52942	T	0.0239845453986895	0.01143	T	0.946005	0.79398	D	0.13417049	0.31182	0.108112514	0.26037	0.13417049	0.31182	0.108112514	0.26037	-8.092	0.62027	D	.	.	0.107	0.21616	B	.;.;.;.	.;.;.;.	3.128645	0.42264	21.5	0.95595567329373277	0.27324	0.91225	0.53106	D	AEFBI	0.445405	0.50190	N	-0.151747385742028	0.35160	2.016076	0.0128654453405862	0.40310	2.403735	0.0186964224830056	0.13087	0.736574	0.97449	0	0.743671	0.97443	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.93	3.68	0.41359	3.615000	0.53908	6.008000	0.52598	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.7027:0.1517:0.0:0.1456	7.105	0.24539	901	0.24189	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.001359	0.002924	0.000000	0.025862	0.012195	0.015152	0.07143	904.63	33	chr5	65660736	.	A	G	904.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.828;DP=257;ExcessHet=0;FS=5.805;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-0.355;SOR=0.287	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1273	6	0	1	0
chr5	66054451	66054451	C	T	exonic	ERBIN	.	nonsynonymous SNV	ERBIN:NM_001006600:exon21:c.C3133T:p.H1045Y,ERBIN:NM_001253697:exon21:c.C3133T:p.H1045Y,ERBIN:NM_001253698:exon21:c.C3133T:p.H1045Y,ERBIN:NM_001253699:exon21:c.C3133T:p.H1045Y,ERBIN:NM_001253701:exon21:c.C3121T:p.H1041Y,ERBIN:NM_018695:exon21:c.C3133T:p.H1045Y	.	436	1046	39	1	0	41	0.0192218	.	.	.	699142	ERBIN-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.036	.	0.0055	0.00319489	0.0071	0.0012	0.0034	0.0001	0.0201	0.0092	0.0143	0.0025	0.0069275	1071	154602	rs142496054	0.0080	0.0080	0.0081	0.0080	0.0130	0.0079	0.0079	0.0106	0.0098	0.0014	0.0049	0.0027	2.519e-05	0.0182	0.0130	0.0086	0.0075	0.0041	0.0070	0.0070	0.0063	0.0077	0.0103	0.0067	0.0065	0.0090	0.0085	0.0011	0.0011	0.0103	0.0029	0.0004	0.0205	0.0102	0.0087	0.0076	0.0041	0.202	0.26192	T	0.936	0.02725	T	0.001	0.38076	B	0.001	0.44752	B	0.000430	0.44522	D	0.233896	0.968849	0.81001	D	.	.	.	1.4	0.37230	T	-1.06	0.27669	N	0.21	0.34767	-1.0818	0.07003	T	0.057	0.23904	T	10	0.0052889585	0.00116	T	.	.	.	0.036	0.09122	.	.	0.043077524339	0.03247	0.23617138195608345	0.23532	0.17845421502	0.20078	0.520014822483	0.41629	T	0.026122	0.19398	T	-0.44926	0.01141	T	-0.408712	0.32375	T	0.0327549083695503	0.02430	T	0.949755	0.80719	D	0.059305694	0.12037	0.077869184	0.17388	0.059305694	0.12036	0.077869184	0.17387	-3.511	0.24236	T	.	.	0.121	0.33573	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.045860	0.40854	21.2	0.95663696698175138	0.27496	0.97922	0.78147	D	AEFBI	0.701588	0.65823	D	-0.105461591648689	0.37153	2.157553	0.0248738627495247	0.40873	2.446292	0.999440304113357	0.39736	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.67	3.8	0.42887	4.455000	0.59813	4.017000	0.41215	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.134:0.7981:0.0:0.0679	11.158	0.47723	804	0.43891	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015106	0.005051	0.016304	0.008772	0.000000	0.008621	0.021341	0.007576	0.07143	1160.45	91	chr5	66054451	.	C	T	1160.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.298;DP=300;ExcessHet=0;FS=0.784;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-1.386;SOR=0.747	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,99,1485	6	0	1	0
chr5	69285386	69285386	A	C	exonic	CCDC125	.	nonsynonymous SNV	CCDC125:NM_001297696:exon10:c.T1003G:p.W335G,CCDC125:NM_176816:exon11:c.T1181G:p.M394R,CCDC125:NM_001297697:exon12:c.T806G:p.M269R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00837850598723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44694	D	0.086	0.40909	T	0.042	0.21471	B	0.037	0.23121	B	0.735368	0.06395	N	1.134910	1	0.08975	N	0.55	0.14455	N	0.96	0.42888	T	-2.19	0.49352	N	0.27	0.30574	-0.9676	0.37693	T	0.074	0.29960	T	10	0.116060674	0.21883	T	0.008379	0.22181	T	0.029	0.06676	0.247	0.18293	0.0806252709748	0.07271	0.07320556604281035	0.07257	0.107925270574	0.12170	0.279358863831	0.07403	T	0.004	0.02909	T	-0.234666	0.16035	T	-0.574858	0.15007	T	0.0506864632540838	0.05619	T	.	.	.	0.21397614	0.43790	0.20752293	0.45015	0.21397614	0.43790	0.20752293	0.45014	-4.489	0.30744	T	.	.	0.073	0.08272	B	.;.;.	.;.;.	1.636982	0.20893	14.96	0.28314690427425204	0.01448	0.11488	0.16667	N	AEFDBI	0.082468	0.16699	N	-0.829014520006057	0.12572	0.6136689	-0.957932031541211	0.10740	0.542829	0.991027550195682	0.32347	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.88	-2.6	0.05830	1.236000	0.32286	0.047000	0.13948	-0.595000	0.04637	0.001000	0.13787	0.000000	0.08366	0.074000	0.16894	0.5325:0.0:0.2017:0.2657	4.697	0.12192	976	0.04745	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	957.44	33	chr5	69285386	.	A	C	957.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.57;DP=305;ExcessHet=0;FS=1.53;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.18;ReadPosRankSum=2.34;SOR=0.523	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr5	69414057	69414057	G	A	exonic	RAD17	.	nonsynonymous SNV	RAD17:NM_133339:exon16:c.G1811A:p.R604K,RAD17:NM_133340:exon16:c.G1283A:p.R428K,RAD17:NM_133341:exon16:c.G1520A:p.R507K,RAD17:NM_002873:exon17:c.G1778A:p.R593K,RAD17:NM_133344:exon17:c.G1778A:p.R593K,RAD17:NM_001278622:exon18:c.G1778A:p.R593K,RAD17:NM_133342:exon18:c.G1778A:p.R593K,RAD17:NM_133343:exon18:c.G1778A:p.R593K,RAD17:NM_133338:exon19:c.G1778A:p.R593K	.	430	978	106	8	0	122	0.0587103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	0.0072	0.00858626	0.0118	0.0017	0.0041	0.0002	0.0050	0.0086	0.0177	0.0452	0.0109507	1693	154602	rs35440980	0.0098	0.0098	0.0085	0.0111	0.0460	0.0097	0.0096	0.0448	0.0443	0.0012	0.0036	0.0166	5.038e-05	0.0041	0.0303	0.0079	0.0098	0.0460	0.0067	0.0067	0.0058	0.0076	0.0414	0.0063	0.0062	0.0367	0.0349	0.0012	0	0.0067	0.0147	0.0002	0.0042	0.0204	0.0081	0.0047	0.0414	0.986	0.02332	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.000189	0.48115	D	0.259771	0.994634	0.23476	N	1.535	0.38868	L	2.49	0.19450	T	0.54	0.02945	N	0.032	0.04426	-0.9900	0.32601	T	0.017	0.06855	T	10	0.00218606	0.00032	T	.	.	.	0.066	0.19193	.	.	.	.	0.3029777273072425	0.30210	0.0550484155351	0.06097	0.372454166412	0.21183	T	0.049787	0.28408	T	-0.595955	0.00154	T	-0.595243	0.13214	T	0.0194319635730626	0.00647	T	0.624837	0.24114	T	0.046678767	0.07854	0.035762925	0.02890	0.046678767	0.07854	0.035762925	0.02889	-3.364	0.14669	T	.	.	0.072	0.10883	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.187245	0.27882	17.61	0.75957224569446813	0.11277	0.64842	0.32539	D	AEFDGBI	0.328249	0.42897	N	-0.413733362045308	0.24988	1.353151	-0.239332704839906	0.30141	1.694516	0.99969678773718	0.41870	0.719381	0.83141	0	0.723133	0.82719	0	0.786243	0.99158	0	0.733575	0.97253	0	.	.	5.35	2.09	0.26154	4.382000	0.59360	7.481000	0.59259	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.3362:0.2222:0.4416:0.0	3.033	0.05744	976	0.04745	.;.;.;.;.;.;.;.;.;.;.	CCDC125|RP11-1415C14.3|CCDC125|CCDC125	Artery_Aorta|Brain_Cortex|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.032762	0.020408	0.014946	0.040936	0.000000	0.025862	0.036585	0.068182	0.07143	1254.53	39	chr5	69414057	.	G	A	1254.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.31;DP=293;ExcessHet=0;FS=0.776;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.212;SOR=0.543	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1300	6	0	1	0
chr5	71502726	71502726	A	T	exonic	BDP1	.	nonsynonymous SNV	BDP1:NM_018429:exon15:c.A2176T:p.I726L	.	9	1431	74	8	0	90	0.0304878	.	.	.	500910	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.024	.	0.0048	0.00379393	0.0056	0.0011	0.0047	0.0001	0.0002	0.0076	0.0100	0.0059	0.0054462	842	154602	rs34588160	0.0050	0.0050	0.0048	0.0053	0.0520	0.0049	0.0049	0.0472	0.0453	0.0027	0.0068	0.0287	0.0001	0.0001	0.0520	0.0043	0.0085	0.0068	0.0047	0.0047	0.0047	0.0048	0.0094	0.0045	0.0043	0.0082	0.0077	0.0008	0	0.0094	0.0314	0	0	0.0646	0.0054	0.0090	0.0060	0.964	0.02079	T	0.446	0.13103	T	0.001	0.07471	B	0.001	0.04355	B	0.073714	0.02279	N	1.858550	1	0.08975	N	0.69	0.16971	N	2.77	0.11407	T	-0.21	0.10308	N	0.136	0.13484	-0.9768	0.35727	T	0.012	0.04510	T	10	0.0032429397	0.00055	T	.	.	.	0.024	0.04979	0.078	0.00601	0.0666544352282	0.05500	0.03314513103180605	0.03262	0.0372861232549	0.03950	0.247713685036	0.03531	T	0.005732	0.11224	T	-0.727399	0.00025	T	-0.81349	0.01588	T	0.00146636472080958	0.00015	T	0.616838	0.23625	T	0.023202907	0.01041	0.03177215	0.01813	0.024720207	0.01331	0.035487026	0.02809	-2.516	0.05891	T	.	.	0.094	0.14385	B	.;.	.;.	0.290408	0.06670	3.169	0.64207342975242188	0.07430	0.01812	0.05644	N	AEFBI	0.034522	0.04290	N	-1.79741032345659	0.00551	0.02374199	-1.90727798069213	0.00474	0.02097533	0.998651112745746	0.37392	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.7	-9.41	0.00518	-1.979000	0.01583	-0.794000	0.07402	-0.118000	0.14412	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1906:0.1176:0.6918:0.0	13.604	0.61503	368	0.84463	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.048338	0.020202	0.069293	0.067251	0.000000	0.077586	0.021341	0.015152	0.1429	594.65	33	chr5	71502726	.	A	T	594.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.03;DP=214;ExcessHet=0.3476;FS=0.908;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=1.33;SOR=0.906	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	2	0
chr5	75146001	75146001	A	G	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon14:c.T3410C:p.I1137T,ANKRD31:NM_001372053:exon14:c.T3410C:p.I1137T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0320185438598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.067e-06	5.908e-05	3.014e-06	3.121e-06	3.869e-06	7.2e-07	4.8e-07	9.1e-07	6.1e-07	0	0	0	0	0	0	3.869e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.08	0.76473	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.705	0.44259	L	0.06	0.61798	T	0.5	0.02945	N	0.144	0.33904	-0.9725	0.36670	T	0.133	0.44622	T	7	0.07310486	0.11001	T	0.032019	0.53954	D	0.208	0.49714	0.399	0.42753	0.0666544352282	0.05500	0.1179940654002401	0.11726	.	.	0.431646108627	0.29434	T	6.79E-4	0.00299	T	-0.0895452	0.38151	T	-0.366402	0.37308	T	0.0622141301128149	0.07513	T	0.622038	0.23930	T	0.046649564	0.07844	0.065477386	0.13277	0.046649564	0.07844	0.065477386	0.13277	-3.908	0.22423	T	.	.	0.159	0.35204	B	.;.	.;.	-0.613964	0.01534	0.099	0.95776924258942753	0.27794	0.03341	0.08421	N	AEFI	0.072667	0.14510	N	-0.919827703521214	0.10379	0.4956785	-1.06350639893966	0.08427	0.4143377	9.32791732047118E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	-2.42	0.06164	-1.019000	0.03733	-0.266000	0.10387	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.627000	0.32078	0.406:0.1456:0.1685:0.28	0.344	0.00315	845	0.36510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	99.38	34	chr5	75146001	.	A	G	99.38	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.283;DP=293;ExcessHet=0;FS=51.266;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.92;ReadPosRankSum=-0.385;SOR=5.957	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:59,0:59:42:.:.:0,42,1312:.	5	0	1	1
chr5	75702781	75702781	G	A	exonic	POC5	.	nonsynonymous SNV	POC5:NM_152408:exon4:c.C262T:p.P88S,POC5:NM_001099271:exon5:c.C337T:p.P113S	.	432	1060	28	2	0	32	0.0148699	.	.	.	1600307	not_provided|Retinal_dystrophy|Optic_atrophy	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.037	.	0.0026	0.0101837	0.0130	0.0002	0.0092	0.0409	0.0337	0.0084	0.0212	0.0163	0.0067011	1036	154602	rs79392300	0.0058	0.0058	0.0054	0.0061	0.0172	0.0057	0.0056	0.0161	0.0157	0.0008	0.0046	0.0113	0.0172	0.0226	0.0148	0.0039	0.0083	0.0140	0.0060	0.0060	0.0048	0.0073	0.0237	0.0057	0.0056	0.0203	0.0190	0.0010	0.0011	0.0041	0.0150	0.0237	0.0244	0.0204	0.0041	0.0109	0.0139	0.368	0.11623	T	0.658	0.13993	T	0.008	0.14655	B	0.012	0.16012	B	0.387173	0.13307	N	0.754894	0.98446	0.40149	D	2.135	0.59519	M	1.98	0.28604	T	-0.61	0.23808	N	0.056	0.03613	-1.0156	0.25143	T	0.021	0.09009	T	10	0.0016588569	0.00020	T	.	.	.	0.037	0.09474	.	.	0.0986583533028	0.09354	0.5153100026487207	0.51453	0.062071779075	0.06909	0.241766959429	0.02951	T	7.75E-4	0.14314	T	-0.648449	0.00074	T	-0.683279	0.06785	T	0.00539200280690588	0.00058	T	0.665433	0.28129	T	0.01881412	0.00405	0.02529857	0.00570	0.01881412	0.00404	0.02529857	0.00570	-2.72	0.07472	T	.	.	0.087	0.14062	B	.;.;.	.;.;.	0.863859	0.12365	8.902	0.26308428443095727	0.01254	0.11070	0.16387	N	AEFBI	0.050338	0.08788	N	-1.53072416774126	0.01651	0.07220092	-1.48750863070593	0.02446	0.1125266	0.698364834324272	0.22667	0.719381	0.83141	0	0.723133	0.82719	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.65	-0.667	0.10823	0.094000	0.14946	0.505000	0.19029	-0.110000	0.15115	0.061000	0.21800	0.333000	0.24383	0.350000	0.25659	0.2301:0.1778:0.4138:0.1783	1.892	0.03053	957	0.09725	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.009073	0.015152	0.001359	0.014620	0.000000	0.008772	0.006098	0.018939	0.07143	611.49	35	chr5	75702781	.	G	A	611.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.883;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-3.5;SOR=0.638	GT:AD:DP:GQ:PL	0/0:40,0:40:93:0,93,1395	6	0	1	0
chr5	79044510	79044510	T	C	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.A788G:p.H263R	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.620	0.0499483824762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.228	0.25286	T	0.648	0.40583	P	0.172	0.35394	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.175	0.60977	M	-1.44	0.80815	T	-1.42	0.34992	N	0.804	0.79986	-0.1303	0.79394	T	0.367	0.72712	T	10	0.64481616	0.69264	D	0.049948	0.64031	D	0.620	0.85249	0.601	0.73226	0.827341243144	0.82571	0.8269855015519543	0.82656	0.611311684803	0.55774	0.558233141899	0.47018	T	0.028244	0.20504	T	0.334612	0.85475	D	0.24287	0.85283	D	0.968468606472015	0.68253	D	0.921908	0.71628	D	0.86606336	0.88552	0.6559207	0.79854	0.86606336	0.88554	0.6559207	0.79855	-8.651	0.65424	D	0.4151006917709649	0.50477	0.852	0.79850	P	.;.	.;.	3.747857	0.53700	23.4	0.99775390252736462	0.86260	0.99126	0.91608	D	AEFBI	0.956026	0.97429	D	0.228138784264105	0.52565	3.430038	0.367314525288217	0.59556	4.134629	0.999998532021457	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	7.857000	0.85305	7.860000	0.71395	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.569	0.76062	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	95.79	45	chr5	79044510	.	T	C	95.79	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.253;DP=388;ExcessHet=0.3476;FS=37.345;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=2;SOR=5.384	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,14:90:28:.:.:28,0,1982:.	4	0	2	1
chr5	79044511	79044511	G	A	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.C787T:p.H263Y	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.0145784045067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.341	0.12673	T	0.614	0.07592	T	0.029	0.19866	B	0.006	0.12133	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.485	0.37223	L	-1.46	0.80983	T	0.46	0.03297	N	0.795	0.79118	-0.6303	0.63558	T	0.309	0.67931	T	10	0.5324558	0.63261	D	0.014578	0.34790	T	0.393	0.70844	0.467	0.53891	0.782547463411	0.78053	0.768997685997995	0.76848	0.195931964383	0.21951	0.557169079781	0.46868	T	0.017325	0.14153	T	0.221509	0.75918	D	0.0804058	0.75605	D	0.845702707767487	0.49799	D	0.930507	0.74278	D	0.7260823	0.79502	0.4871424	0.70320	0.7260823	0.79504	0.4871424	0.70320	-2.736	0.07610	T	0.3277913666749117	0.42589	0.213	0.44188	B	.;.	.;.	3.944933	0.57750	23.9	0.99348841113542719	0.60493	0.99470	0.96426	D	AEFBI	0.952969	0.96887	D	0.0628041216277017	0.44734	2.742053	0.2805814258811	0.54406	3.605736	0.999999999489839	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	9.792000	0.98216	11.788000	0.96293	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.355	0.94400	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	70.44	43	chr5	79044511	.	G	A	70.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.253;DP=330;ExcessHet=0;FS=3.979;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-1.036;SOR=2.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:75,0:75:37:.:.:0,37,1886:.	6	0	1	0
chr5	79236784	79236784	C	G	exonic	JMY	.	nonsynonymous SNV	JMY:NM_152405:exon1:c.C134G:p.T45S	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.17284198799	.	0.000199681	0.0005	0	0	0	0	0.0007	0	0.0004	0.00011	17	154602	rs528007143	0.0011	0.0010	0.0011	0.0010	0.0012	0.0010	0.0010	0.0012	0.0012	0.0002	0.0001	0	0	0.0005	0.0002	0.0012	0.0012	0.0005	0.0006	0.0006	0.0007	0.0005	0.0011	0.0005	0.0004	0.0009	0.0008	7.222e-05	0	0.0002	0	0	0.0006	0	0.0011	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.994	0.82059	D	0.000003	0.62929	U	0.000000	0.999784	0.49076	D	1.04	0.26193	L	2.29	0.17113	T	-1.89	0.44094	N	0.662	0.67132	-0.8951	0.48474	T	0.119	0.41648	T	10	0.22702017	0.39571	T	0.172842	0.84970	D	0.216	0.50959	0.349	0.34598	0.307279486299	0.30330	0.4490197405851087	0.44819	.	.	0.843016862869	0.88554	D	0.046	0.27322	T	-0.265518	0.12261	T	-0.204615	0.54208	T	0.190401002764702	0.19868	T	0.90251	0.65969	D	0.74037284	0.80314	0.8605077	0.92214	0.74037284	0.80315	0.8605077	0.92214	-6.496	0.50255	T	.	.	0.976	0.90377	P	.	.	4.454149	0.69265	25.4	0.99577638640890231	0.72802	0.86443	0.45724	D	AEFDBHCI	0.694303	0.65335	D	0.657582406259633	0.76862	6.564988	0.577656276969359	0.73342	5.954668	0.999999999999978	0.74766	0.242642	0.04205	2	0.218748	0.04544	0	0.391439	0.06340	0	0.492483	0.08430	1	.	.	3.81	3.81	0.43020	6.745000	0.74658	7.229000	0.57868	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.655	0.76879	813	0.42397	JMY/WHAMM, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002564	0.006579	0.000000	0.000000	0.083333	0.000000	0.000000	0.000000	0.07143	869.63	36	chr5	79236784	.	C	G	869.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.667;DP=263;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=-0.68;SOR=0.708	GT:AD:DP:GQ:PL	0/1:43,41:84:99:880,0,980	6	0	1	0
chr5	79316194	79316194	G	A	exonic	JMY	.	nonsynonymous SNV	JMY:NM_152405:exon10:c.G2854A:p.D952N	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.012120979253	0.0017	.	0.0012	0.0002	0.0008	0.0001	0.0003	0.0016	0	0.0010	0.0011772	182	154602	rs34067120	0.0024	0.0024	0.0024	0.0024	0.0029	0.0023	0.0023	0.0028	0.0028	0.0004	0.0006	0	0	0.0006	0.0002	0.0029	0.0023	0.0013	0.0012	0.0012	0.0016	0.0009	0.0022	0.0011	0.0010	0.0019	0.0018	0.0003	0	0.0009	0	0	0.0004	0	0.0022	0	0.0015	0.036	0.43393	D	0.132	0.34477	T	1.0	0.90584	D	0.987	0.77487	D	0.000094	0.51296	D	0.128773	0.99994	0.51968	D	0.345	0.11182	N	1.44	0.32722	T	0.05	0.06369	N	0.144	0.14480	-1.0479	0.14988	T	0.151	0.47839	T	10	0.02658251	0.00822	T	0.012121	0.30406	T	0.127	0.34888	.	.	0.43774664317	0.43397	0.20151610551399657	0.20068	.	.	0.651995480061	0.60269	T	0.022364	0.17257	T	-0.552606	0.00281	T	-0.572104	0.15257	T	0.0318771058132551	0.02285	T	0.913009	0.68959	D	0.059388973	0.12065	0.08072719	0.18285	0.059388973	0.12065	0.08072719	0.18284	-10.544	0.77100	D	.	.	0.181	0.39322	B	.	.	4.709352	0.75645	26.4	0.999142610475244	0.98309	0.96697	0.70458	D	AEFBI	0.756006	0.69540	D	0.65906677822694	0.76957	6.58302	0.688399187815661	0.81496	7.540676	0.998914578684026	0.37962	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.65	5.65	0.86881	6.869000	0.75317	11.792000	0.96402	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.718	0.96127	620	0.66037	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	783.49	35	chr5	79316194	.	G	A	783.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.55;DP=263;ExcessHet=0;FS=1.923;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=0.24;SOR=0.955	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1171	6	0	1	0
chr5	79689956	79689956	G	A	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon1:c.G49A:p.D17N	.	375	1142	5	0	0	5	0.00218436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.127644490234	.	.	0.0003	0	0	0	0	0	0	0.0006	2.59e-05	4	154602	rs761618368	7.123e-05	7.123e-05	3.737e-05	0.0001	0.0008	5.74e-05	5.264e-05	0.0007	0.0006	0	0	0	0	0	0	7.085e-06	0.0002	0.0008	2.626e-05	2.625e-05	0	5.37e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.018	0.50676	D	0.319	0.19188	T	0.982	0.60036	D	0.435	0.45529	B	0.131263	0.02810	U	2.104830	1	0.08975	N	0.55	0.14455	N	1.02	0.40749	T	-1.09	0.28290	N	0.104	0.08786	-0.8926	0.48705	T	0.094	0.35604	T	10	0.06775409	0.09487	T	0.127644	0.80948	D	0.139	0.37390	0.173	0.07894	0.227934060464	0.22382	0.05577750943846046	0.05518	0.0565549676772	0.06250	0.532340764999	0.43365	T	0.021075	0.16480	T	-0.573311	0.00211	T	-0.704921	0.05560	T	0.0727364355088542	0.09029	T	0.517048	0.16713	T	0.12832074	0.30003	0.09347902	0.22081	0.12832074	0.30003	0.09347902	0.22080	-5.093	0.37834	T	.	.	0.127	0.26947	B	.	.	2.897989	0.38398	20.7	0.99030357451356354	0.50786	0.29689	0.23888	N	AEFDBHCI	0.127895	0.24545	N	-0.172806868777968	0.34271	1.954057	-0.238347061041192	0.30175	1.696727	0.999999999970886	0.74766	0.56387	0.32371	0	0.514364	0.08380	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	3.77	3.77	0.42499	2.009000	0.40523	4.864000	0.45499	0.580000	0.29708	0.111000	0.23011	1.000000	0.68203	0.399000	0.26759	0.0:0.0:1.0:0.0	12.787	0.56894	589	0.68969	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	308.28	12	chr5	79689956	.	G	A	308.28	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.604;DP=93;ExcessHet=0;FS=17.194;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=0.9;SOR=0.011	GT:AD:DP:GQ:PL	0/1:10,13:23:99:318,0,272	5	0	1	1
chr5	79791029	79791029	G	C	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon11:c.G11749C:p.G3917R	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.0144334920719	0.0006	0.000599042	0.0007	0	0.0004	0	0	0.0003	0.0035	0.0032	0.0005369	83	154602	rs200251867	0.0004	0.0004	0.0003	0.0005	0.0033	0.0004	0.0004	0.0030	0.0029	8.961e-05	2.237e-05	0	0	1.873e-05	0.0012	0.0003	0.0006	0.0033	0.0003	0.0003	0.0003	0.0003	0.0027	0.0002	0.0002	0.0016	0.0013	9.624e-05	0	0.0002	0	0	0	0	0.0004	0.0009	0.0027	0.053	0.38863	T	0.007	0.69154	D	1.0	0.90584	D	0.982	0.75477	D	.	.	.	.	0.712277	0.33531	D	0.45	0.12780	N	2.54	0.13916	T	-4.25	0.76094	D	0.777	0.77413	-0.9310	0.43992	T	0.047	0.20235	T	9	0.06256446	0.08018	T	0.014433	0.34542	T	0.228	0.52768	0.429	0.47680	0.490282680104	0.48660	0.43527896108451636	0.43444	0.0677024119643	0.07574	0.652367353439	0.60322	T	0.045767	0.27224	T	-0.48586	0.00685	T	-0.472471	0.25251	T	0.0931471727865737	0.11586	T	0.824218	0.48580	T	0.2376065	0.46627	0.2638827	0.52200	0.2376065	0.46627	0.2638827	0.52199	-6.313	0.48824	T	.	.	0.441	0.61750	A	.	.	4.015372	0.59269	24.1	0.98584967116556244	0.43297	0.98004	0.78799	D	AEFBI	0.635162	0.61477	D	0.379240412339841	0.60297	4.217277	0.4077176253207	0.62044	4.413534	0.0688708157179204	0.15472	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	6.05	5.18	0.71140	5.101000	0.64402	9.795000	0.81665	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.520000	0.29475	0.067:0.0:0.933:0.0	15.268	0.73371	480	0.77422	B30.2/SPRY domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.018939	0.07143	1160.53	34	chr5	79791029	.	G	C	1160.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.262;DP=302;ExcessHet=0;FS=3.397;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=-0.365;SOR=1.012	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1072	6	0	1	0
chr5	80654889	80654889	T	0	exonic	MSH3	.	.	.	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	138.26	14	chr5	80654889	.	T	*	138.26	.	AC=3;AF=0.214;AN=14;DP=272;ExcessHet=0.0921;FS=5.576;MLEAC=3;MLEAF=0.214;MQ=60;QD=1.06;SOR=1.179	GT:AD:DP:GQ:PL	0/1:31,35:66:99:1209,0,1103	4	0	3	0
chr5	81440630	81440630	T	C	exonic	SSBP2	.	nonsynonymous SNV	SSBP2:NM_001256733:exon13:c.A796G:p.M266V,SSBP2:NM_001256734:exon13:c.A790G:p.M264V,SSBP2:NM_001256735:exon13:c.A766G:p.M256V,SSBP2:NM_001256736:exon13:c.A766G:p.M256V,SSBP2:NM_001256732:exon14:c.A880G:p.M294V,SSBP2:NM_001345886:exon14:c.A880G:p.M294V,SSBP2:NM_012446:exon14:c.A856G:p.M286V	.	432	1083	7	0	0	7	0.00322135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.00716978810402	0.0015	0.000998403	0.0018	0.0005	0.0009	0	0.0008	0.0029	0.0022	0.0003	0.0017852	276	154602	rs139911197	0.0022	0.0022	0.0022	0.0022	0.0039	0.0021	0.0021	0.0026	0.0023	0.0002	0.0009	0.0088	0	0.0008	0.0039	0.0024	0.0027	0.0004	0.0018	0.0018	0.0018	0.0017	0.0028	0.0016	0.0015	0.0025	0.0024	0.0005	0	0.0014	0.0063	0	0.0007	0	0.0028	0.0028	0.0004	0.003	0.72154	D	0.694	0.24264	T	0.038	0.21002	B	0.374	0.43683	B	0.000000	0.84330	D	0.038157	0.999964	0.52935	D	2.215	0.62545	M	.	.	.	-2.84	0.60507	D	0.377	0.53796	-0.5432	0.67043	T	0.348	0.71281	T	9	0.010237962	0.00229	T	0.00717	0.19006	T	0.190	0.46781	.	.	0.342376198884	0.33841	0.7583331352599543	0.75781	1.09336094306	0.77502	0.630092024803	0.57158	T	0.318034	0.68944	T	-0.0837178	0.39107	T	0.102042	0.77043	D	0.040646097906275	0.03807	T	0.910909	0.68443	D	0.52929866	0.68791	0.6070777	0.77154	0.52929866	0.68792	0.6070777	0.77155	-6.718	0.57596	T	.	.	0.079	0.13876	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.566463	0.50211	22.9	0.96143264158919151	0.28841	0.97791	0.77159	D	AEFI	0.530644	0.55125	D	0.043948066053869	0.43863	2.671156	0.195078645347304	0.49578	3.159186	0.991818269872245	0.32618	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.64	5.64	0.86480	3.501000	0.53085	6.174000	0.54533	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.509	0.75502	725	0.54935	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.001359	0.011696	0.000000	0.017241	0.000000	0.000000	0.1429	1269.65	27	chr5	81440630	.	T	C	1269.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.709;DP=232;ExcessHet=0.3476;FS=2.511;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=3.01;SOR=0.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,23:41:99:1|0:81440625_A_G:565,0,687:81440625	5	0	2	0
chr5	82303831	82303838	AGGTATGG	-	exonic	ATP6AP1L	.	frameshift deletion	ATP6AP1L:NM_001349374:exon5:c.68_69del:p.R24Gfs*13	.	3	222	1	0	0	1	0.00224719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.255e-05	5.25e-05	2.571e-05	8.06e-05	0.0017	2.556e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1430.4	35	chr5	82303830	.	CAGGTATGG	C	1430.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.938;DP=315;ExcessHet=0;FS=2.07;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.04;ReadPosRankSum=0.16;SOR=0.436	GT:AD:DP:GQ:PL	0/0:78,0:78:99:0,120,1800	6	0	1	0
chr5	83111112	83111112	T	C	exonic	XRCC4	.	nonsynonymous SNV	XRCC4:NM_001318012:exon3:c.T224C:p.L75S,XRCC4:NM_001318013:exon3:c.T224C:p.L75S,XRCC4:NM_003401:exon3:c.T224C:p.L75S,XRCC4:NM_022406:exon3:c.T224C:p.L75S,XRCC4:NM_022550:exon3:c.T224C:p.L75S	Short stature, microcephaly, and endocrine dysfunction, Autosomal recessive	426	1090	6	0	0	6	0.00274474	.	.	.	721575	Short_stature,_microcephaly,_and_endocrine_dysfunction|not_provided	MONDO:MONDO:0014686,MedGen:C4225288,OMIM:616541,Orphanet:436182|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.124	0.0106737236099	0.0016	0.000599042	0.0015	0.0005	0.0008	0	0.0029	0.0018	0.0022	0.0016	0.0015394	238	154602	rs61762970	0.0022	0.0022	0.0023	0.0022	0.0026	0.0022	0.0021	0.0025	0.0025	0.0004	0.0002	0	0	0.0026	0.0002	0.0026	0.0011	0.0015	0.0013	0.0013	0.0015	0.0011	0.0023	0.0011	0.0011	0.0020	0.0019	0.0002	0	0.0003	0	0	0.0015	0	0.0023	0.0019	0.0012	0.002	0.72154	D	0.005	0.72224	D	0.65	0.40644	P	0.191	0.44046	B	0.083172	0.20768	N	0.434279	0.997734	0.22531	N	0	0.06538	N	2.7	0.12162	T	-1.35	0.33598	N	0.148	0.15046	-1.0262	0.21690	T	0.027	0.11663	T	10	0.00827989	0.00188	T	0.010674	0.27473	T	0.124	0.34239	.	.	0.224531998449	0.22054	0.2700491595634064	0.26917	0.0299867894098	0.03088	0.342457175255	0.16806	T	0.073562	0.34727	T	-0.469064	0.00861	T	-0.44422	0.28337	T	0.0341677774796583	0.02665	T	0.607039	0.23656	T	0.37845424	0.59204	0.22157621	0.46972	0.37845424	0.59205	0.22157621	0.46971	-3.289	0.13879	T	0.1286705915347484	0.13354	0.214	0.44306	B	.;.;.;.	.;.;.;.	3.245992	0.44328	21.9	0.99676086110471995	0.78912	0.92112	0.54971	D	AEFDI	0.239586	0.36152	N	-0.112757633092088	0.36836	2.134698	-0.016539568394433	0.38968	2.303484	0.999926282097277	0.46280	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.56	5.56	0.83678	3.673000	0.54326	3.446000	0.38414	0.609000	0.47794	0.993000	0.37899	0.996000	0.32793	0.201000	0.21925	0.0:0.0:0.0:1.0	15.699	0.77280	868	0.31772	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	597.63	33	chr5	83111112	.	T	C	597.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.132;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-1.656;SOR=0.836	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1158	6	0	1	0
chr5	83520540	83520540	A	C	exonic	VCAN	.	nonsynonymous SNV	VCAN:NM_001164098:exon7:c.A2234C:p.K745T,VCAN:NM_004385:exon7:c.A2234C:p.K745T	Wagner syndrome 1, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	252025	Vitreoretinopathy|not_provided|Wagner_syndrome|not_specified	Human_Phenotype_Ontology:HP:0000655,Human_Phenotype_Ontology:HP:0007773,MONDO:MONDO:0020248,MedGen:C0344290|MedGen:C3661900|Human_Phenotype_Ontology:HP:0030673,MONDO:MONDO:0007740,MedGen:C1840452,OMIM:143200,Orphanet:898|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.041	0.009711912907	0.0002	0.000399361	0.0002	0	0.0005	0	0	0.0003	0.0011	0.0001	0.000207	32	154602	rs144502710	0.0002	0.0002	0.0002	0.0003	0.0009	0.0002	0.0002	0.0003	0.0002	0	0.0004	0.0002	0	0	0.0009	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	0	0	0.0001	0.0006	0	0	0	0.0003	0.0009	0	0.001	0.78490	D	0.084	0.41239	T	0.958	0.54977	D	0.343	0.49014	B	0.291814	0.03899	N	1.504830	1	0.08975	N	1.65	0.42232	L	2.02	0.21119	T	-1.43	0.35194	N	0.142	0.14905	-1.0681	0.09836	T	0.071	0.29066	T	10	0.024023116	0.00647	T	0.009712	0.25359	T	0.041	0.10877	.	.	0.218628672733	0.21463	0.141843596687934	0.14107	0.0954370582371	0.10785	0.267049998045	0.05760	T	0.222908	0.58690	T	-0.442383	0.01252	T	-0.526057	0.19683	T	0.0284169741236152	0.01748	T	0.618838	0.23746	T	0.12998465	0.30342	0.11220899	0.27073	0.126821	0.29694	0.13178791	0.31638	-2.04	0.03892	T	.	.	0.091	0.22208	B	.;.;.	.;.;.	0.059151	0.04704	1.343	0.99168368057060963	0.54298	0.17401	0.19821	N	AEFGBI	0.075706	0.15211	N	-0.408972455259013	0.25155	1.363375	-0.58160850639922	0.19973	1.074011	0.998726455763077	0.37539	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.586402	0.36253	0	.	.	4.89	2.45	0.28953	0.025000	0.13469	0.751000	0.21237	0.567000	0.28720	0.000000	0.06391	0.000000	0.08366	0.213000	0.22268	0.7119:0.1896:0.0985:0.0	4.856	0.12922	956	0.09877	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	983.44	41	chr5	83520540	.	A	C	983.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.045;DP=267;ExcessHet=0;FS=0.857;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=0.786;SOR=0.831	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1168	6	0	1	0
chr5	87363477	87363477	A	G	exonic	RASA1	.	nonsynonymous SNV	RASA1:NM_002890:exon11:c.A1583G:p.Y528C,RASA1:NM_022650:exon11:c.A1052G:p.Y351C	Basal cell carcinoma, somatic;Capillary malformation-arteriovenous malformation, Autosomal dominant;Parkes Weber syndrome	4	1489	29	0	0	29	0.00964416	.	.	.	304960	not_provided|Capillary_malformation-arteriovenous_malformation_1|Parkes_Weber_syndrome|RASA1-related_disorder|not_specified|Capillary_malformation-arteriovenous_malformation_syndrome|Cardiovascular_phenotype	MedGen:C3661900|MONDO:MONDO:0020783,MedGen:C4747394,OMIM:608354,Orphanet:137667,Orphanet:90307|MedGen:C5574870,Orphanet:2346|.|MedGen:CN169374|MONDO:MONDO:0012016,MedGen:C1842180,OMIM:PS608354,Orphanet:137667|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.944	0.448378663713	0.0003	0.000998403	0.0016	0	0.0005	0.0002	0	0.0006	0	0.0093	0.0014683	227	154602	rs145752649	0.0012	0.0012	0.0010	0.0015	0.0099	0.0012	0.0012	0.0094	0.0091	0.0004	0.0005	0.0004	5.057e-05	0	0.0066	0.0007	0.0013	0.0099	0.0007	0.0007	0.0005	0.0008	0.0081	0.0006	0.0005	0.0061	0.0054	9.63e-05	0	0.0009	0.0003	0	0	0.0034	0.0007	0.0005	0.0081	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.11	0.58565	M	-0.94	0.75325	T	-6.18	0.90294	D	0.807	0.92550	0.162	0.85267	D	0.549	0.83460	D	10	0.03353712	0.01533	T	0.448379	0.94296	D	0.944	0.98851	.	.	0.940034697642	0.93941	0.7033443205072765	0.70275	2.04020034352	0.94242	0.915937066078	0.97999	D	0.816096	0.95454	D	0.0689449	0.60721	T	0.332939	0.89631	D	0.0660348523251774	0.08083	T	0.983002	0.95536	D	0.7093577	0.78572	0.64056164	0.79001	0.70451236	0.78305	0.60470366	0.77024	-9.339	0.69852	D	.	.	0.516	0.65297	A	.;.;.;.	.;.;.;.	4.860222	0.79530	27.1	0.99825743831912561	0.90764	0.98749	0.86360	D	AEFBI	0.926134	0.90676	D	0.781349756435156	0.84924	8.426184	0.771408940963608	0.87744	9.329597	0.999999992526965	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.58	5.58	0.84361	9.283000	0.95023	9.388000	0.80560	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.754	0.77779	608	0.67185	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;.;.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005544	0.000000	0.000000	0.005882	0.000000	0.017241	0.003049	0.018939	0.07143	239.63	29	chr5	87363477	.	A	G	239.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.415;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.26;ReadPosRankSum=1.89;SOR=0.836	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,966	6	0	1	0
chr5	90652438	90652438	A	G	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon19:c.A3509G:p.Y1170C	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	0	1521	1	0	0	1	0.000328623	.	.	YES	55483	Usher_syndrome_type_2C|Febrile_seizures,_familial,_4|not_specified|not_provided	MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886|MONDO:MONDO:0011443,MedGen:C1858493,OMIM:604352|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.162	0.112513367644	0.0011	0.000599042	0.0007	0.0001	0.0003	0	0	0.0012	0	0.0003	0.0007309	113	154602	rs188772875	0.0010	0.0010	0.0010	0.0010	0.0013	0.0009	0.0009	0.0011	0.0011	0.0003	0.0013	3.828e-05	0	0.0001	0.0007	0.0012	0.0011	0.0003	0.0008	0.0008	0.0008	0.0009	0.0027	0.0007	0.0007	0.0020	0.0018	0.0004	0	0.0027	0	0	0	0	0.0010	0	0.0004	0.077	0.34095	T	0.029	0.54541	D	0.994	0.66517	D	0.887	0.62952	P	0.014628	0.28476	N	0.424017	0.918838	0.36617	D	.	.	.	1.66	0.27486	T	-3.39	0.66896	D	0.33	0.37093	-1.0184	0.24236	T	0.099	0.36907	T	10	0.026765376	0.00836	T	0.112513	0.79069	D	0.162	0.41843	.	.	0.715466172255	0.71297	0.5428992786814775	0.54214	0.128789058085	0.14521	0.465694665909	0.34090	T	0.131555	0.46112	T	-0.335124	0.05734	T	-0.267389	0.48082	T	0.0516345028638372	0.05784	T	0.843516	0.52087	T	0.15152639	0.34443	0.14965385	0.35326	0.15152639	0.34442	0.14965385	0.35325	-7.514	0.57709	D	.	.	0.083	0.11220	B	.;.;.	.;.;.	3.418152	0.47452	22.5	0.99754735013798723	0.84537	0.86839	0.46209	D	AEFBI	0.346477	0.44128	N	0.458673270004431	0.64697	4.730137	0.508486582942215	0.68558	5.236919	0.99999524171452	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.463624	0.06942	0	0.542086	0.14980	0	.	.	6.07	6.07	0.98675	1.100000	0.30637	2.604000	0.33538	0.691000	0.84096	0.997000	0.40164	1.000000	0.68203	0.994000	0.71098	0.8103:0.0:0.067:0.1227	8.030	0.29622	665	0.61472	.;.;Na-Ca exchanger/integrin-beta4	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1429	1137.02	28	chr5	90652438	.	A	G	1137.02	.	AC=2;AF=0.143;AN=14;DP=185;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=27.07;SOR=1.127	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1184	6	1	0	0
chr5	95464607	95464607	T	G	exonic	TTC37	.	stoploss	TTC37:NM_014639:exon43:c.A4695C:p.X1565Y	Trichohepatoenteric syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1450079	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	1.049e-05	0	0.0001	0	0	0	0	0	6.5e-06	1	154602	rs751183327	1.029e-05	1.026e-05	6.825e-06	1.379e-05	0.0001	6.18e-06	4.9e-06	6.281e-05	4.782e-05	0	8.959e-05	0	0	0	0	0	1.661e-05	0.0001	6.569e-06	6.567e-06	0	1.345e-05	6.546e-05	0	0	.	.	0	0	6.546e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.005	0.00034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.363101	0.03958	T	-0.561703	0.16218	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	0.052758	0.04660	1.311	0.81474490932239829	0.13703	0.30293	0.24045	N	AEBI	.	.	.	0.283823954614775	0.55327	3.696935	-0.0437265186462775	0.37763	2.215483	0.0594952281876477	0.15164	0.322412	0.05557	0	0.31918	0.05746	0	0.292756	0.05521	0	0.370666	0.05837	0	0.181892	0.29534	5.85	0.907	0.18450	0.067000	0.14378	-0.178000	0.11160	-0.121000	0.13915	0.004000	0.16614	0.000000	0.08366	0.955000	0.50612	0.0:0.372:0.0:0.628	9.371	0.37415	622	0.65860	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	971.44	81	chr5	95464607	.	T	G	971.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.293;DP=266;ExcessHet=0;FS=0.833;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.218;SOR=0.598	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	6	0	1	0
chr5	95653159	95653159	T	A	exonic	RFESD	.	nonsynonymous SNV	RFESD:NM_001131065:exon3:c.T103A:p.L35M,RFESD:NM_001131066:exon3:c.T103A:p.L35M	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00200198209018	.	0.000599042	0.0009	0	0	0	0	0	0	0.0023	0.0001358	21	154602	rs572693940	0.0001	0.0001	6.768e-05	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	3.165e-05	0	0	0	0	0	0	0.0002	0.0024	0.0001	0.0001	2.569e-05	0.0002	0.0031	6.503e-05	5.316e-05	0.0019	0.0015	2.404e-05	0	0	0	0	0	0	0	0	0.0031	0.094	0.31383	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999969	0.52935	D	.	.	.	.	.	.	-0.17	0.09627	N	0.303	0.34336	-0.9201	0.45540	T	0.172	0.51357	T	5	0.008929074	0.00202	T	0.002002	0.03615	T	0.029	0.06676	0.559	0.67821	0.0138822411134	0.00435	0.2837769116653965	0.28290	0.380424953849	0.39413	0.37453764677	0.21481	T	.	.	.	-0.54951	0.00294	T	-0.567967	0.15637	T	0.0878605133879384	0.10962	T	0.319968	0.06445	T	.	.	.	.	.	.	.	.	-5.596	0.42755	T	.	.	0.111	0.21390	B	.;.	.;.	1.873253	0.23796	16.15	0.96200159256055195	0.29019	0.07149	0.13175	N	AEFDBI	0.067915	0.13374	N	-0.466882266418571	0.23171	1.242463	-0.625508002617306	0.18838	1.008143	0.981015425864052	0.30207	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.11	-0.246	0.12380	0.314000	0.19182	0.563000	0.19530	0.366000	0.20181	0.571000	0.27513	0.032000	0.21310	0.719000	0.34739	0.0:0.0:0.3988:0.6012	3.813	0.08319	623	0.65786	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002646	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.024390	0.07143	50.44	34	chr5	95653159	.	T	A	50.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=209;ExcessHet=0;FS=3.31;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.41;ReadPosRankSum=0;SOR=2.303	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1270	6	0	1	0
chr5	96803404	96803404	T	A	exonic	ERAP1	.	nonsynonymous SNV	ERAP1:NM_001040458:exon2:c.A523T:p.R175W,ERAP1:NM_001198541:exon2:c.A523T:p.R175W,ERAP1:NM_001349244:exon2:c.A523T:p.R175W,ERAP1:NM_016442:exon2:c.A523T:p.R175W	.	423	1096	2	1	0	4	0.00182149	0.9999	0.996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.484	0.053377703624	0.0003	0.000199681	0.0003	0	0.0003	0	0	0.0003	0.0022	0.0002	0.0002458	38	154602	rs141992697	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0001	0.0011	0.0008	0	0.0005	3.83e-05	0	0	0.0019	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	9.401e-05	0.0005	0.0001	8.714e-05	0.0003	0.0002	0	0	0.0005	0	0	0	0	0.0002	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.043621	0.999968	0.52935	D	4.2	0.97819	H	4.11	0.02916	T	-6.89	0.93257	D	0.891	0.89353	-0.9425	0.42218	T	0.064	0.26667	T	10	0.831851	0.82347	D	0.053378	0.65443	D	0.484	0.77335	.	.	0.519837540645	0.51628	0.8352326849003059	0.83483	0.441369322318	0.44128	0.591365098953	0.51687	T	0.286168	0.65895	T	-0.0355551	0.46608	T	0.0651848	0.74589	D	0.840968370437622	0.49406	D	0.977602	0.92086	D	0.90760595	0.92073	0.8910111	0.94338	0.90760595	0.92074	0.8910111	0.94339	-11.877	0.84246	D	.	.	0.334	0.55521	B	.;.	.;.	6.023696	0.94370	34	0.99913748408846248	0.98238	0.98233	0.80775	D	AEFBI	0.705801	0.66107	D	0.802214594910289	0.86242	8.823533	0.701037469273887	0.82458	7.771817	0.999999972727965	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	3.971000	0.56538	7.921000	0.74526	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0:0.0:0.0:1.0	15.284	0.73515	890	0.26919	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.009511	0.005848	0.000000	0.000000	0.003049	0.000000	0.08333	472.27	33	chr5	96803404	.	T	A	472.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.074;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-1.512;SOR=0.874	GT:AD:DP:GQ:PL	0/1:20,22:42:99:482,0,430	5	0	1	1
chr5	102270770	102270770	G	A	exonic	SLCO4C1	.	nonsynonymous SNV	SLCO4C1:NM_180991:exon3:c.C656T:p.T219I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0115028280006	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175652348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.32e-05	1.315e-05	1.289e-05	1.352e-05	1.472e-05	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.472e-05	0.0005	0	0.142	0.25457	T	0.256	0.23298	T	0.038	0.21002	B	0.103	0.30945	B	0.114133	0.02666	N	1.718550	1	0.08975	N	1.27	0.32069	L	1.09	0.39223	T	-2.68	0.57275	D	0.157	0.16308	-1.0216	0.23195	T	0.093	0.35336	T	10	0.06457871	0.08585	T	0.011503	0.29187	T	0.013	0.01715	0.505	0.59924	0.104622674875	0.10061	0.2586394306084872	0.25777	0.0495080261756	0.05423	0.311373412609	0.12114	T	0.040704	0.25615	T	-0.240781	0.15248	T	-0.583642	0.14221	T	0.113470774417171	0.13780	T	0.229177	0.03066	T	0.07753631	0.17604	0.073808745	0.16079	0.07753631	0.17604	0.073808745	0.16078	-4.183	0.26505	T	.	.	0.078	0.06663	B	.	.	0.696501	0.10651	7.351	0.97305176174551633	0.33299	0.03945	0.09343	N	AEFBI	0.071942	0.14339	N	-1.05011044505534	0.07585	0.3528671	-1.09197903977378	0.07857	0.3839092	0.0203658458362758	0.13251	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	-1.11	0.09336	-0.445000	0.06918	-0.879000	0.07072	-0.667000	0.04321	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.1348:0.1105:0.3048:0.4499	2.952	0.05506	344	0.85734	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	53.52	31	chr5	102270770	.	G	A	53.52	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.148;DP=195;ExcessHet=0;FS=22.079;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.85;ReadPosRankSum=0.264;SOR=3.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:31,0:31:41:.:.:0,41,576:.	6	0	1	0
chr5	102438625	102438625	G	A	exonic	SLCO6A1	.	nonsynonymous SNV	SLCO6A1:NM_001289004:exon6:c.C1082T:p.T361I,SLCO6A1:NM_001289002:exon7:c.C1268T:p.T423I,SLCO6A1:NM_173488:exon7:c.C1268T:p.T423I	.	448	1070	4	0	0	4	0.00186567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.0025628377266	0.0005	.	0.0005	0	0	0	0	0.0007	0	0.0007	0.000401	62	154602	rs146187374	0.0003	0.0003	0.0003	0.0003	0.0047	0.0003	0.0003	0.0033	0.0028	0	0.0001	0.0080	0	1.885e-05	0.0047	7.422e-05	0.0008	0.0008	0.0003	0.0003	0.0002	0.0004	0.0006	0.0002	0.0002	0.0002	9e-05	0	0	6.541e-05	0.0078	0	0	0	0.0002	0	0.0006	0.681	0.05091	T	0.656	0.06762	T	0.001	0.07471	B	0.002	0.10090	B	0.289019	0.03882	N	1.484200	1	0.08975	N	0.94	0.23649	L	1.21	0.37230	T	-1.97	0.45587	N	0.1	0.10198	-1.0396	0.17434	T	0.053	0.22384	T	10	0.024332643	0.00665	T	0.002563	0.05150	T	0.024	0.04979	.	.	0.0138822411134	0.00435	0.06636984487177555	0.06574	0.11852074789	0.13345	0.248655468225	0.03627	T	0.090519	0.38602	T	-0.598094	0.00150	T	-0.729305	0.04358	T	0.0107708583892262	0.00152	T	0.364364	0.08448	T	0.029355276	0.02416	0.045680266	0.06200	0.029355276	0.02416	0.045680266	0.06200	-4.467	0.30454	T	.	.	0.100	0.23113	B	.;.;.	.;.;.	-0.919159	0.00894	0.033	0.30022965530955814	0.01621	0.00921	0.03583	N	AEFI	0.033983	0.04131	N	-1.82502132404932	0.00487	0.02095049	-1.8938913985835	0.00503	0.02230285	2.83178006579937E-4	0.06355	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.52	-5.42	0.02434	-0.137000	0.10369	-0.296000	0.10153	-0.672000	0.04293	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5829:0.0:0.3086:0.1085	7.988	0.29385	240	0.90628	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001040	0.000000	0.001366	0.002994	0.000000	0.000000	0.000000	0.000000	0.07143	709.83	30	chr5	102438625	.	G	A	709.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.537;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=1.02;SOR=0.646	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1016	6	0	1	0
chr5	111120579	111120579	C	A	exonic	WDR36	.	nonsynonymous SNV	WDR36:NM_139281:exon18:c.C1988A:p.T663N	Glaucoma 1, open angle, G	9	1511	2	0	0	2	0.000661376	.	.	.	4101885	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.060	0.0292566423174	.	.	8.25e-06	0	0	0	0	0	0.0011	0	1.29e-05	2	154602	rs748204022	1.85e-05	1.915e-05	1.227e-05	2.479e-05	0.0010	1.267e-05	1.086e-05	0.0005	0.0003	0	0	0	0	0	0.0010	8.108e-06	3.317e-05	0.0001	3.945e-05	3.94e-05	3.856e-05	4.039e-05	7.352e-05	1.716e-05	1.13e-05	2.847e-05	1.859e-05	0	0	6.551e-05	0	0	0	0	7.352e-05	0	0	.	.	.	0.05	0.48080	T	0.005	0.12996	B	0.011	0.15521	B	0.005679	0.32605	N	0.403741	0.986943	0.40511	D	1.965	0.53209	M	-0.24	0.66834	T	-1.61	0.38734	N	0.364	0.49783	-0.7310	0.58913	T	0.235	0.60173	T	10	0.16009355	0.30064	T	0.029257	0.51800	D	0.060	0.17295	0.365	0.37199	0.523355545495	0.51982	0.39909135409562824	0.39824	0.0341759855025	0.03587	0.434445112944	0.29817	T	0.173953	0.52301	T	-0.167323	0.25641	T	-0.296596	0.45082	T	0.323607295751572	0.25968	T	0.784422	0.42203	T	0.5373885	0.69250	0.3038401	0.56414	0.5373885	0.69251	0.3038401	0.56413	-4.609	0.32285	T	0.39542733015013376	0.48802	0.193	0.41326	B	.;.;.	.;.;.	3.894188	0.56683	23.8	0.96692081414110553	0.30741	0.95756	0.66020	D	AEFBI	0.437797	0.49746	N	-0.0596077289431658	0.39175	2.305943	0.0818177572870553	0.43635	2.661173	0.999985747190055	0.51787	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.72	3.92	0.44525	3.674000	0.54333	2.714000	0.34259	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.8124:0.1218:0.0658	12.003	0.52536	899	0.25060	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	628.49	33	chr5	111120579	.	C	A	628.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.678;DP=237;ExcessHet=0;FS=1.007;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.062;SOR=0.735	GT:AD:DP:GQ:PL	0/1:30,28:58:99:639,0,664	6	0	1	0
chr5	112266272	112266272	C	T	exonic	EPB41L4A	.	nonsynonymous SNV	EPB41L4A:NM_001347887:exon5:c.G394A:p.V132I,EPB41L4A:NM_001347888:exon5:c.G394A:p.V132I,EPB41L4A:NM_022140:exon5:c.G394A:p.V132I	.	429	1069	24	0	0	24	0.0111008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	.	0.0087	0.00579073	0.0101	0.0164	0.0057	0	0.0304	0.0100	0.0208	0.0079	0.0072832	1126	154602	rs34008454	0.0077	0.0077	0.0078	0.0075	0.0135	0.0075	0.0075	0.0124	0.0120	0.0135	0.0049	0.0121	2.52e-05	0.0204	0.0104	0.0072	0.0083	0.0064	0.0094	0.0094	0.0093	0.0094	0.0136	0.0090	0.0088	0.0127	0.0123	0.0136	0	0.0075	0.0110	0	0.0193	0.0102	0.0067	0.0095	0.0044	0.216	0.19225	T	0.275	0.22016	T	0.001	0.07471	B	0.001	0.04355	B	0.183255	0.17045	N	0.577929	0.999956	0.19072	N	-0.895	0.01383	N	-1.11	0.77466	T	0.48	0.03041	N	0.126	0.11912	-0.9832	0.34258	T	0.115	0.40717	T	10	0.008863032	0.00201	T	.	.	.	0.117	0.32689	.	.	0.452168903601	0.44841	0.0913371297137528	0.09066	0.0366702886383	0.03882	0.254688203335	0.04278	T	0.022813	0.17520	T	-0.595195	0.00156	T	-0.616702	0.11447	T	0.00104275352367141	0.00010	T	0.472453	0.14032	T	0.044025	0.06964	0.040126055	0.04266	0.0315337	0.03011	0.040126055	0.04266	-3.05	0.10730	T	0.07819312253352015	0.03734	0.061	0.01197	B	.;.	.;.	0.434614	0.08048	4.771	0.87545910905454083	0.17305	0.04278	0.09817	N	AEFI	0.041928	0.06440	N	-1.13582315396331	0.06016	0.275865	-1.05088707465384	0.08688	0.4284389	0.168075642050029	0.17694	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.91	3.1	0.34780	-0.024000	0.12382	-1.557000	0.05176	-0.869000	0.02574	0.005000	0.17040	0.000000	0.08366	0.001000	0.02609	0.1527:0.5019:0.0:0.3455	4.082	0.09407	575	0.70088	FERM central domain|Band 4.1 domain|FERM domain|Band 4.1 domain|FERM central domain;FERM central domain|Band 4.1 domain|FERM domain|Band 4.1 domain|FERM central domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020284	0.010204	0.036685	0.014706	0.055556	0.017241	0.012579	0.015152	0.08333	75.27	27	chr5	112266272	.	C	T	75.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.352;DP=174;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.18;ReadPosRankSum=-1.289;SOR=0.859	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1006	5	0	1	1
chr5	112838187	112838187	C	T	exonic	APC	.	nonsynonymous SNV	APC:NM_001127511:exon14:c.C2539T:p.P847S,APC:NM_001354897:exon15:c.C2623T:p.P875S,APC:NM_001354899:exon15:c.C2509T:p.P837S,APC:NM_001354901:exon15:c.C2416T:p.P806S,APC:NM_001354902:exon15:c.C2320T:p.P774S,APC:NM_001354905:exon15:c.C2113T:p.P705S,APC:NM_000038:exon16:c.C2593T:p.P865S,APC:NM_001354895:exon16:c.C2593T:p.P865S,APC:NM_001354898:exon16:c.C2518T:p.P840S,APC:NM_001354900:exon16:c.C2470T:p.P824S,APC:NM_001354903:exon16:c.C2290T:p.P764S,APC:NM_001354904:exon16:c.C2215T:p.P739S,APC:NM_001127510:exon17:c.C2593T:p.P865S,APC:NM_001354896:exon17:c.C2647T:p.P883S,APC:NM_001354906:exon17:c.C1744T:p.P582S	Adenoma, periampullary, somatic (3);Adenomatous polyposis coli, Autosomal dominant;Brain tumor-polyposis syndrome 2, Autosomal dominant;Colorectal cancer, somatic;Desmoid disease, hereditary, Autosomal dominant;Gardner syndrome, Autosomal dominant;Gastric cancer, somatic;Hepatoblastoma, somatic	0	1516	6	0	0	6	0.00197498	.	.	.	139402	Familial_adenomatous_polyposis_1|Hereditary_cancer-predisposing_syndrome|Gardner_syndrome|APC-related_attenuated_familial_adenomatous_polyposis|APC-Associated_Polyposis_Disorders|Hereditary_cancer|not_provided|Familial_multiple_polyposis_syndrome|not_specified	MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0019336,MedGen:C0017097,Orphanet:79665|MONDO:MONDO:0016613,MedGen:C5679615,Orphanet:247806|MedGen:CN239210|MedGen:C1333600|MedGen:C3661900|MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100,Orphanet:733|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.108	0.0229687603216	0.0002	0.000798722	9.066e-05	9.638e-05	0.0002	0	0	0.0001	0	6.056e-05	9.7e-05	15	154602	rs192620988	7.525e-05	7.524e-05	8.031e-05	7.013e-05	0.0012	6.382e-05	5.938e-05	0.0006	0.0004	0.0006	0.0001	0.0005	0	0	0.0012	3.777e-05	0.0003	5.797e-05	0.0003	0.0003	0.0003	0.0002	0.0014	0.0002	0.0002	0.0009	0.0008	0.0002	0	0.0014	0.0012	0	0	0	8.821e-05	0.0009	0	0.405	0.14546	T	0.21	0.26714	T	0.0	0.02946	B	0.0	0.01387	B	0.003595	0.34740	N	0.291828	0.718074	0.33588	D	0.835	0.21042	L	-3.17	0.93054	D	-0.36	0.13035	N	0.067	0.03956	-0.2388	0.76657	T	0.584	0.85052	D	10	0.014352292	0.00302	T	0.022969	0.45902	T	0.108	0.30607	.	.	0.769083392219	0.76697	0.4007883173594383	0.39993	.	.	0.320167243481	0.13447	T	0.546892	0.84587	D	-0.168061	0.25528	T	-0.297657	0.44971	T	0.0125627359375358	0.00209	T	0.817118	0.47377	T	0.02953094	0.02463	0.04369399	0.05494	0.02953094	0.02463	0.04369399	0.05494	-2.215	0.04113	T	0.13638163916491733	0.14909	0.069	0.04477	B	.;.;.;.	.;.;.;.	1.092582	0.14763	11.31	0.93426792615462828	0.23198	0.54649	0.29668	D	AEFBI	0.095876	0.19364	N	-0.446806493316638	0.23849	1.283597	-0.292841090058392	0.28333	1.579038	0.00606068371514078	0.11116	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.92	3.11	0.34883	0.653000	0.24588	0.021000	0.13590	0.599000	0.40250	0.382000	0.26022	0.005000	0.19230	0.998000	0.85391	0.1314:0.5981:0.0:0.2706	5.360	0.15387	611	0.66908	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.009146	0.000000	0.07143	1805.63	37	chr5	112838187	.	C	T	1805.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.387;DP=409;ExcessHet=0;FS=4.96;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.518;SOR=0.973	GT:AD:DP:GQ:PL	0/1:72,70:142:99:1816,0,1985	6	0	1	0
chr5	112838980	112838980	T	C	exonic	APC	.	nonsynonymous SNV	APC:NM_001127511:exon14:c.T3332C:p.L1111S,APC:NM_001354897:exon15:c.T3416C:p.L1139S,APC:NM_001354899:exon15:c.T3302C:p.L1101S,APC:NM_001354901:exon15:c.T3209C:p.L1070S,APC:NM_001354902:exon15:c.T3113C:p.L1038S,APC:NM_001354905:exon15:c.T2906C:p.L969S,APC:NM_000038:exon16:c.T3386C:p.L1129S,APC:NM_001354895:exon16:c.T3386C:p.L1129S,APC:NM_001354898:exon16:c.T3311C:p.L1104S,APC:NM_001354900:exon16:c.T3263C:p.L1088S,APC:NM_001354903:exon16:c.T3083C:p.L1028S,APC:NM_001354904:exon16:c.T3008C:p.L1003S,APC:NM_001127510:exon17:c.T3386C:p.L1129S,APC:NM_001354896:exon17:c.T3440C:p.L1147S,APC:NM_001354906:exon17:c.T2537C:p.L846S	Adenoma, periampullary, somatic (3);Adenomatous polyposis coli, Autosomal dominant;Brain tumor-polyposis syndrome 2, Autosomal dominant;Colorectal cancer, somatic;Desmoid disease, hereditary, Autosomal dominant;Gardner syndrome, Autosomal dominant;Gastric cancer, somatic;Hepatoblastoma, somatic	1	1520	1	0	0	1	0.000328839	.	.	YES	49941	Familial_multiple_polyposis_syndrome|not_specified|Carcinoma_of_colon|Hereditary_cancer-predisposing_syndrome|APC-Associated_Polyposis_Disorders|Classic_or_attenuated_familial_adenomatous_polyposis|Familial_adenomatous_polyposis_1|not_provided	MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100,Orphanet:733|MedGen:CN169374|MONDO:MONDO:0002032,MedGen:C0699790|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN239210|MONDO:MONDO:0021057,MedGen:CN372698|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.417	0.0641452280538	0.0024	0.000998403	0.0016	0.0009	0.0010	0	0.0003	0.0026	0.0011	0	0.0019081	295	154602	rs143638171	0.0043	0.0043	0.0043	0.0044	0.0054	0.0042	0.0042	0.0053	0.0052	0.0010	0.0015	7.653e-05	0	0.0004	0.0010	0.0054	0.0038	3.478e-05	0.0024	0.0024	0.0026	0.0022	0.0038	0.0022	0.0021	0.0034	0.0032	0.0008	0.0154	0.0035	0	0	0.0002	0.0068	0.0038	0.0028	0	0.003	0.68238	D	0.433	0.28575	T	0.421	0.35387	B	0.157	0.34536	B	0.014000	0.28669	N	0.299915	0.820739	0.34772	D	0.895	0.22405	L	-3.48	0.94584	D	0.52	0.07444	N	0.777	0.80473	0.400	0.89103	D	0.599	0.85731	D	10	0.009671479	0.00218	T	0.064145	0.69186	D	0.417	0.72705	.	.	0.987077386908	0.98693	0.40124037910776533	0.40039	.	.	0.614633202553	0.54970	T	0.401597	0.75886	T	0.0489547	0.58209	T	0.299878	0.88193	D	0.0404061929384685	0.03763	T	0.882612	0.60317	D	0.090354316	0.21141	0.10983784	0.26477	0.078094356	0.17763	0.12484573	0.30087	-1.881	0.02762	T	0.18782373907201874	0.24504	0.140	0.34427	B	.;.;.;.	.;.;.;.	3.680322	0.52381	23.2	0.99323818785069606	0.59507	0.90425	0.51590	D	AEFBCI	0.593675	0.58891	D	0.192057135389179	0.50818	3.268252	0.338286634619183	0.57805	3.947739	0.943128723371149	0.27554	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	4.601000	0.60798	7.956000	0.75945	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1369:0.0:0.0:0.8631	11.201	0.47969	610	0.67008	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	992.44	37	chr5	112838980	.	T	C	992.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.809;DP=396;ExcessHet=0;FS=4.241;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.047;SOR=0.719	GT:AD:DP:GQ:PL	0/0:81,0:81:99:0,120,1800	6	0	1	0
chr5	113340538	113340538	T	C	exonic	MCC	.	nonsynonymous SNV	MCC:NM_001085377:exon3:c.A608G:p.Y203C	Colorectal cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00839730238326	.	.	8.287e-06	0	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs367697645	1.231e-05	1.231e-05	1.497e-05	9.626e-06	1.259e-05	7.7e-06	6.35e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	4.967e-05	1.159e-05	1.314e-05	1.313e-05	2.569e-05	0	4.824e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	0	0	0	0.097	0.30943	T	0.174	0.30045	T	0.0	0.02946	B	0.001	0.04355	B	0.053087	0.22838	N	0.294950	0.976986	0.25341	N	.	.	.	1.28	0.35960	T	-0.98	0.25986	N	0.681	0.68777	-1.0629	0.11045	T	0.052	0.22076	T	9	0.28709477	0.46292	T	0.008397	0.22231	T	0.059	0.16972	0.313	0.28774	0.158396225186	0.15383	0.5820264920000067	0.58131	0.0969663117624	0.10951	0.52860891819	0.42837	T	.	.	.	-0.302077	0.08465	T	-0.574835	0.15009	T	0.142822101712227	0.16515	T	0.731327	0.34690	T	.	.	.	.	.	.	.	.	-3.439	0.15587	T	.	.	0.121	0.25133	B	.	.	1.783228	0.22673	15.71	0.91901037552410281	0.21221	0.51234	0.28848	D	AEFBCIJ	0.145070	0.26819	N	-0.644675390902738	0.17615	0.9079517	-0.655301325183882	0.18083	0.9644453	0.991313630493702	0.32446	0.495158	0.18159	0	0.59043	0.45803	0	0.685742	0.62368	0	0.75052	0.99595	0	.	.	4.4	-0.972	0.09774	2.304000	0.43315	0.526000	0.19207	0.665000	0.62972	1.000000	0.71638	0.957000	0.29195	0.843000	0.39806	0.0:0.2253:0.1353:0.6394	5.501	0.16120	921	0.19240	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	476.53	33	chr5	113340538	.	T	C	476.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.415;DP=235;ExcessHet=0;FS=1.314;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-1.443;SOR=0.393	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,111,1665	6	0	1	0
chr5	113434145	113434145	C	T	exonic	TSSK1B	.	nonsynonymous SNV	TSSK1B:NM_032028:exon1:c.G695A:p.R232H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00535436789817	.	0.000798722	0.0004	9.634e-05	0	0	0	8.993e-05	0	0.0023	0.0003428	53	154602	rs192780356	0.0002	0.0002	0.0002	0.0003	0.0017	0.0002	0.0002	0.0015	0.0014	8.961e-05	0.0002	0	0	0	0.0009	0.0001	0.0002	0.0017	0.0002	0.0002	0.0002	0.0002	0.0021	0.0001	0.0001	0.0011	0.0009	7.217e-05	0	0	0	0	0	0	0.0002	0	0.0021	0.071	0.35165	T	0.164	0.31026	T	0.76	0.43524	P	0.362	0.43260	B	0.003870	0.34390	U	0.000000	1	0.08975	N	0.865	0.21413	L	-0.19	0.65931	T	-2.71	0.57762	D	0.187	0.20395	-0.9654	0.38132	T	0.130	0.43968	T	10	0.012768626	0.00273	T	0.005354	0.13710	T	0.065	0.18881	.	.	0.558302604704	0.55490	0.36351902315552626	0.36265	0.542473764241	0.51356	0.322719812393	0.13833	T	0.168126	0.51502	T	-0.506439	0.00526	T	-0.506717	0.21652	T	0.0542253077132334	0.06227	T	0.927407	0.73262	D	0.10843564	0.25638	0.10341443	0.24812	0.10843564	0.25637	0.10341443	0.24812	-7.286	0.56096	T	.	.	0.138	0.30103	B	.	.	2.873058	0.37996	20.6	0.99235152647533109	0.56342	0.00323	0.01694	N	AEFGBI	0.029721	0.02859	N	-0.627467425242449	0.18123	0.9383469	-0.79519860632651	0.14613	0.7644187	0.0127885525056049	0.12374	0.516011	0.20929	0	0.547309	0.14657	0	0.573078	0.19857	0	0.586402	0.36253	0	.	.	0.9	0.9	0.18410	0.527000	0.22695	3.910000	0.40403	0.333000	0.19617	0.000000	0.06391	0.999000	0.35428	0.303000	0.24570	0.0:1.0:0.0:0.0	4.957	0.13397	922	0.19044	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.07143	3304.44	33	chr5	113434145	.	C	T	3304.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.55;DP=436;ExcessHet=0;FS=1.001;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-0.194;SOR=0.782	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1343	6	0	1	0
chr5	116058794	116058794	G	C	exonic	ARL14EPL	.	nonsynonymous SNV	ARL14EPL:NM_001385024:exon3:c.G108C:p.E36D,ARL14EPL:NM_001195581:exon4:c.G306C:p.E102D	.	429	1086	7	0	0	7	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0643113331776	.	0.000599042	0.0003	0.0018	0	0	0	0.0003	0	0.0003	0.0001617	25	154602	rs191536495	0.0007	0.0006	0.0007	0.0007	0.0079	0.0006	0.0006	0.0060	0.0054	0.0004	0.0017	0.0002	0	0	0.0079	0.0006	0.0014	0.0003	0.0010	0.0010	0.0011	0.0009	0.0024	0.0009	0.0008	0.0017	0.0015	0.0013	0	0.0024	0	0	0	0.0034	0.0009	0.0024	0	.	.	.	0.671	0.06284	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	0.15444	N	0.02	0.62318	T	.	.	.	0.103	0.08646	.	.	.	.	.	.	.	0.011178106	0.00245	T	0.064311	0.69238	D	.	.	.	.	0.655237075846	0.65236	0.3448135929364288	0.34395	.	.	0.47258579731	0.35035	T	0.008521	0.07817	T	-0.456003	0.01040	T	-0.45242	0.27429	T	.	.	.	0.749125	0.37025	T	0.060825154	0.12525	0.20153269	0.44137	0.060825154	0.12525	0.20153269	0.44136	-3.793	0.20700	T	.	.	0.161	0.35540	B	.;.	.;.	1.359653	0.17685	13.31	0.30220502798325843	0.01642	0.84191	0.43274	D	AEFBI	0.260086	0.37831	N	.	.	.	.	.	.	5.06836220341689E-4	0.07176	0.549168	0.22868	0	0.573888	0.26702	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.84	4.97	0.65419	0.937000	0.28549	2.850000	0.35135	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.213000	0.22268	0.0715:0.2712:0.6573:0.0	9.610	0.38819	945	0.12563	ARF7 effector protein, C-terminal;ARF7 effector protein, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016181	0.027027	0.000000	0.030864	0.000000	0.000000	0.007246	0.000000	0.08333	707.23	33	chr5	116058794	.	G	C	707.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.212;DP=324;ExcessHet=0;FS=2.068;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=-0.815;SOR=1.051	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	5	0	1	1
chr5	119133212	119133212	A	C	exonic	DMXL1	.	nonsynonymous SNV	DMXL1:NM_001290321:exon11:c.A1396C:p.S466R,DMXL1:NM_001290322:exon11:c.A877C:p.S293R,DMXL1:NM_005509:exon11:c.A1396C:p.S466R,DMXL1:NM_001349239:exon12:c.A1396C:p.S466R,DMXL1:NM_001349240:exon12:c.A1396C:p.S466R	.	427	1067	28	0	0	28	0.012951	.	.	.	698741	DMXL1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.085	.	0.0031	0.00798722	0.0066	0.0007	0.0017	0	0.0068	0.0061	0.0088	0.0189	0.0060866	941	154602	rs142000355	0.0046	0.0046	0.0042	0.0050	0.0187	0.0045	0.0045	0.0179	0.0176	0.0009	0.0025	0.0169	5.039e-05	0.0055	0.0094	0.0034	0.0061	0.0187	0.0039	0.0039	0.0037	0.0041	0.0193	0.0037	0.0035	0.0161	0.0149	0.0006	0.0033	0.0034	0.0164	0	0.0048	0.0034	0.0045	0.0047	0.0193	0.078	0.33923	T	0.204	0.27235	T	0.019	0.36941	B	0.02	0.34536	B	0.003207	0.35270	N	0.354726	0.839989	0.35051	D	1.965	0.53209	M	0.84	0.47477	T	-2.2	0.49519	N	0.405	0.58968	-1.0226	0.22866	T	0.054	0.22997	T	10	0.0034649074	0.00061	T	.	.	.	0.085	0.24743	0.211	0.12923	0.316918214084	0.31302	0.26826068777558765	0.26739	0.0836088970448	0.09429	0.356339156628	0.18851	T	0.066931	0.33072	T	-0.442592	0.01249	T	-0.393592	0.34132	T	0.0104915088462671	0.00145	T	0.808019	0.46271	T	0.07245605	0.16118	0.08032456	0.18162	0.07245605	0.16118	0.08032456	0.18161	-6.054	0.46728	T	.	.	0.201	0.47557	B	.;.;.	.;.;.	2.234974	0.28534	17.83	0.95959325265076945	0.28295	0.43055	0.27014	N	AEFGBI	0.178236	0.30549	N	-0.44553844061359	0.23892	1.286213	-0.369960080323475	0.25897	1.42706	0.0185162500457033	0.13067	0.732398	0.92422	0	0.724815	0.89359	0	0.696353	0.63694	0	0.727631	0.95156	0	.	.	5.32	4.18	0.48473	0.514000	0.22492	2.835000	0.35045	0.691000	0.84096	0.632000	0.28016	1.000000	0.68203	0.100000	0.18284	0.7225:0.166:0.1115:0.0	5.926	0.18350	885	0.28214	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011078	0.005051	0.008152	0.011696	0.050000	0.000000	0.018293	0.011364	0.07143	1732.53	35	chr5	119133212	.	A	C	1732.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.764;DP=351;ExcessHet=0;FS=5.59;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=0.906;SOR=0.408	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,972	6	0	1	0
chr5	119171184	119171184	A	C	exonic	DMXL1	.	nonsynonymous SNV	DMXL1:NM_001290321:exon24:c.A6393C:p.R2131S,DMXL1:NM_001290322:exon24:c.A5874C:p.R1958S,DMXL1:NM_005509:exon24:c.A6393C:p.R2131S,DMXL1:NM_001349239:exon25:c.A6393C:p.R2131S,DMXL1:NM_001349240:exon25:c.A6393C:p.R2131S	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.722	0.249732951472	0.0002	0.000199681	0.0002	9.643e-05	0	0	0	0.0003	0	0.0004	0.000207	32	154602	rs146373954	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	8.962e-05	0.0001	0.0024	0	3.744e-05	0.0005	0.0001	0.0003	0.0005	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	9.011e-05	2.406e-05	0	6.533e-05	0.0026	0	0	0	0.0002	0	0.0006	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	0.999869	0.50061	D	2.69	0.78713	M	-1.43	0.80730	T	-5.9	0.88839	D	0.932	0.93723	0.131	0.84729	D	0.623	0.86709	D	10	0.6230507	0.68087	D	0.249733	0.89063	D	0.722	0.90191	0.661	0.79894	0.868058055843	0.86678	0.7859007356844657	0.78541	0.381255657936	0.39490	0.689555168152	0.65641	T	0.261305	0.75915	T	0.11688	0.66058	D	0.25208	0.85720	D	0.300603121338385	0.25029	T	0.950205	0.80929	D	0.8534152	0.87589	0.67058027	0.80671	0.8534152	0.87590	0.67058027	0.80672	-9.301	0.69613	D	.	.	0.984	0.92711	P	.;.	.;.	3.101558	0.41800	21.4	0.99440918068463635	0.64770	0.82278	0.41530	D	AEFBI	0.377276	0.46110	N	0.162459343134093	0.49403	3.141138	0.0730052839293168	0.43198	2.626455	0.0421272888033435	0.14513	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.5	1.13	0.19758	0.809000	0.26827	2.485000	0.32957	-0.137000	0.12594	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.64:0.0:0.36:0.0	9.601	0.38772	901	0.24189	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	1258.53	35	chr5	119171184	.	A	C	1258.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.59;DP=280;ExcessHet=0;FS=2.672;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-0.047;SOR=1.022	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1285	6	0	1	0
chr5	119499449	119499449	T	C	exonic	HSD17B4	.	nonsynonymous SNV	HSD17B4:NM_001199292:exon12:c.T1051C:p.S351P,HSD17B4:NM_000414:exon13:c.T1105C:p.S369P,HSD17B4:NM_001292028:exon13:c.T685C:p.S229P,HSD17B4:NM_001374497:exon13:c.T1096C:p.S366P,HSD17B4:NM_001374498:exon13:c.T1105C:p.S369P,HSD17B4:NM_001374499:exon13:c.T778C:p.S260P,HSD17B4:NM_001374501:exon13:c.T694C:p.S232P,HSD17B4:NM_001374502:exon13:c.T694C:p.S232P,HSD17B4:NM_001199291:exon14:c.T1180C:p.S394P,HSD17B4:NM_001292027:exon14:c.T1033C:p.S345P,HSD17B4:NM_001374500:exon14:c.T664C:p.S222P,HSD17B4:NM_001374503:exon14:c.T694C:p.S232P	D-bifunctional protein deficiency, Autosomal recessive;Perrault syndrome 1, Autosomal recessive	2	1519	1	0	0	1	0.000329056	.	.	.	586310	HSD17B4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.119	0.0202688819982	.	.	1.649e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs781084978	3.496e-05	0.0004	3.764e-05	3.226e-05	0.0002	2.69e-05	2.427e-05	2.903e-05	2.574e-05	6.084e-05	0	0	2.53e-05	0	0.0002	3.878e-05	1.684e-05	3.505e-05	1.314e-05	1.313e-05	2.57e-05	0	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.242	0.22312	T	0.221	0.33109	T	0.001	0.11197	B	0.004	0.10090	B	0.207218	0.16453	N	0.644539	0.998062	0.24425	N	0.475	0.13142	N	-1.75	0.83495	D	-1.61	0.39314	N	0.175	0.23380	-0.8970	0.48293	T	0.264	0.63501	T	10	0.10314271	0.18945	T	0.020269	0.42829	T	0.119	0.33137	0.362	0.36711	0.824880002343	0.82322	0.5836028072308838	0.58289	0.0727130368711	0.08147	0.366561591625	0.20337	T	0.11293	0.42958	T	-0.102227	0.36054	T	-0.320973	0.42469	T	0.054950729434631	0.06349	T	0.766723	0.42712	T	0.19631228	0.41454	0.13157105	0.31591	0.19631228	0.41454	0.13157105	0.31590	-2.563	0.06901	T	0.09032067692630434	0.05612	0.076	0.05845	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.009926	0.25536	16.80	0.98932034170165739	0.48769	0.68143	0.33691	D	AEFBI	0.580553	0.58092	D	-0.52650164453884	0.21227	1.124927	-0.381430793229907	0.25551	1.40583	0.0673286344376866	0.15422	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.49	-0.052	0.13154	0.865000	0.27595	1.506000	0.26990	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1112:0.0816:0.4962:0.311	4.261	0.10188	920	0.19381	N-terminal of MaoC-like dehydratase;.;N-terminal of MaoC-like dehydratase;.;.;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	422.37	37	chr5	119499449	.	T	C	422.37	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-3.479;DP=352;ExcessHet=1.1394;FS=223.216;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=2.07;ReadPosRankSum=2.18;SOR=8.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,33:107:99:.:.:147,0,1680:.	4	0	3	0
chr5	119634040	119634040	C	T	exonic	FAM170A	.	nonsynonymous SNV	FAM170A:NM_001163991:exon2:c.C151T:p.R51C,FAM170A:NM_001367956:exon3:c.C292T:p.R98C,FAM170A:NM_182761:exon3:c.C292T:p.R98C	.	.	.	.	.	.	.	.	.	.	.	3435545	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.020	0.00307265431658	8.2e-05	.	7.454e-05	0	0	0	0	4.497e-05	0	0.0004	6.47e-05	10	154602	rs373211031	8.14e-05	8.209e-05	7.759e-05	8.525e-05	0.0004	6.934e-05	6.486e-05	0.0003	0.0002	0	6.708e-05	0	2.519e-05	0	0	6.924e-05	8.279e-05	0.0004	8.543e-05	9.193e-05	6.423e-05	0.0001	0.0002	4.957e-05	3.963e-05	5.841e-05	4.239e-05	7.239e-05	0	0	0	0	0	0	0.0001	0.0005	0.0002	0.273	0.18371	T	0.071	0.43721	T	0.002	0.11197	B	0.002	0.08700	B	0.009541	0.01245	N	2.326850	1	0.08975	N	-1.245	0.00777	N	1.56	0.29602	T	-0.03	0.07444	N	0.096	0.12055	-1.0636	0.10878	T	0.025	0.10643	T	9	0.018721819	0.00410	T	0.003073	0.06636	T	0.020	0.03691	.	.	0.0297737177859	0.01360	0.07039802393367231	0.06976	.	.	0.191972732544	0.00262	T	8.57E-4	0.02494	T	-0.495619	0.00605	T	-0.627732	0.10587	T	0.0232442755558855	0.01052	T	0.520648	0.17009	T	0.049710236	0.08869	0.025333384	0.00574	0.049710236	0.08868	0.025333384	0.00574	-3.525	0.19880	T	.	.	0.069	0.02993	B	.;.;.;.	.;.;.;.	0.859559	0.12321	8.859	0.76624794288112474	0.11544	0.01671	0.05346	N	AEFBI	0.049451	0.08544	N	-1.76470080321122	0.00637	0.02748926	-1.76189883004033	0.00889	0.03974318	0.00169575553096973	0.08790	0.487112	0.14033	0	0.573078	0.20572	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.35	-3.41	0.04535	0.051000	0.14025	-1.549000	0.05193	-1.544000	0.00972	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1191:0.422:0.2347:0.2241	2.141	0.03544	949	0.11373	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	425.44	34	chr5	119634040	.	C	T	425.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.763;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.68;ReadPosRankSum=-0.082;SOR=0.73	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1171	6	0	1	0
chr5	119634554	119634554	G	T	exonic	FAM170A	.	nonsynonymous SNV	FAM170A:NM_001163991:exon2:c.G665T:p.G222V,FAM170A:NM_001367956:exon3:c.G806T:p.G269V,FAM170A:NM_182761:exon3:c.G806T:p.G269V	.	398	1120	4	0	0	4	0.00178253	.	.	.	2399291	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.0143242388326	0.0006	.	0.0004	0	0.0002	0	0	0.0006	0.0011	0	0.0003622	56	154602	rs200846075	0.0003	0.0003	0.0003	0.0003	0.0061	0.0003	0.0003	0.0045	0.0039	0.0001	0.0002	0	0	1.873e-05	0.0061	0.0004	0.0004	0.0002	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	4.812e-05	0	0.0004	0	0	0	0.0034	0.0005	0.0005	0.0002	0.017	0.51248	D	0.136	0.34241	T	0.987	0.61912	D	0.876	0.62173	P	0.003004	0.35573	N	0.130252	0.999987	0.18198	N	2.39	0.68882	M	1.46	0.32238	T	-2.21	0.49684	N	0.308	0.36569	-1.0377	0.18016	T	0.127	0.43360	T	9	0.07810691	0.12410	T	0.014324	0.34357	T	0.055	0.15663	.	.	0.126345400529	0.12197	0.04272427637551771	0.04217	.	.	0.303412616253	0.10911	T	0.057828	0.30676	T	-0.428352	0.01517	T	-0.49339	0.23035	T	0.0876401279147409	0.10935	T	0.642236	0.25428	T	0.108148225	0.25573	0.1455311	0.34512	0.108148225	0.25572	0.1455311	0.34511	-6.566	0.51274	T	.	.	0.225	0.45702	B	.;.;.	.;.;.	2.762605	0.36239	20.2	0.98884870665645419	0.47895	0.19621	0.20731	N	AEFBI	0.076896	0.15480	N	-0.126300813603889	0.36250	2.09279	-0.336730607369205	0.26922	1.490403	0.029653014351895	0.13899	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.45	2.67	0.30756	1.434000	0.34567	1.529000	0.27146	0.672000	0.70159	0.034000	0.20669	0.742000	0.26489	0.142000	0.20019	0.2022:0.0:0.7978:0.0	7.087	0.24444	950	0.11238	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008089	0.000000	0.010870	0.023952	0.000000	0.000000	0.000000	0.000000	0.1429	71.0	39	chr5	119634554	.	G	T	71.0	.	AC=2;AF=0.143;AN=14;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=23.67;SOR=1.179	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1171	6	1	0	0
chr5	121852630	121852630	G	T	exonic	FTMT	.	nonsynonymous SNV	FTMT:NM_177478:exon1:c.G667T:p.A223S	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	0.0012	0.00299521	0.0043	0.0002	0.0010	0	0.0178	0.0024	0.0033	0.0138	0.0038615	597	154602	rs149286328	0.0036	0.0036	0.0033	0.0039	0.0146	0.0035	0.0034	0.0139	0.0136	0.0005	0.0011	3.826e-05	0	0.0141	0.0009	0.0026	0.0031	0.0146	0.0035	0.0035	0.0029	0.0042	0.0108	0.0033	0.0032	0.0085	0.0076	0.0002	0.1022	0.0041	0	0.0002	0.0152	0	0.0022	0.0038	0.0108	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.011703	0.29430	N	0.297217	1	0.08975	N	0.075	0.08292	N	-0.3	0.67874	T	0.99	0.01428	N	0.029	0.00666	-0.9617	0.38858	T	0.061	0.25492	T	10	0.0066440403	0.00151	T	.	.	.	0.070	0.20419	.	.	0.387529464389	0.38369	0.1105668507569373	0.10985	0.26005264081	0.28572	0.344538271427	0.17115	T	0.208673	0.56867	T	-0.604202	0.00137	T	-0.628994	0.10490	T	0.0140182735908742	0.00271	T	0.265273	0.04325	T	0.10085439	0.23818	0.07560148	0.16662	0.10085439	0.23818	0.07560148	0.16661	-1.353	0.01489	T	.	.	0.075	0.05404	B	.	.	0.433831	0.08043	4.763	0.11094201561964319	0.00157	0.10855	0.16239	N	AEFI	0.034168	0.04186	N	-1.57839802993674	0.01376	0.0599648	-1.47902350540383	0.02517	0.1158822	1.36554141719558E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.68	-1.23	0.08977	2.216000	0.42511	0.073000	0.14287	-0.873000	0.02525	0.997000	0.40164	0.000000	0.08366	0.053000	0.15439	0.1098:0.0:0.2013:0.6889	7.162	0.24843	904	0.23766	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	276.46	33	chr5	121852630	.	G	T	276.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.487;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-1.621;SOR=0.593	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1055	6	0	1	0
chr5	122152001	122152001	G	A	exonic	ZNF474	.	nonsynonymous SNV	ZNF474:NM_207317:exon2:c.G11A:p.G4E	.	433	1081	5	3	0	11	0.00506213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.00644032191744	.	.	7.625e-05	0	0	0	0	1.532e-05	0	0.0005	5.82e-05	9	154602	rs766986538	3.433e-05	3.42e-05	2.322e-05	4.555e-05	0.0005	2.641e-05	2.383e-05	0.0004	0.0003	0	0	0	0	0	0.0004	3.601e-06	3.327e-05	0.0005	6.575e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.291	0.14945	T	0.223	0.25670	T	0.012	0.16265	B	0.009	0.14300	B	0.369978	0.13542	U	0.533217	1	0.08975	N	1.01	0.25309	L	0.78	0.49358	T	-0.13	0.70432	N	0.082	0.05799	-1.0272	0.21363	T	0.063	0.26136	T	10	0.028360158	0.00969	T	0.00644	0.16956	T	0.085	0.24743	0.27	0.21893	0.104622674875	0.10061	0.01330414131086422	0.01288	0.00360207321169	0.00311	0.295596152544	0.09745	T	0.001721	0.01148	T	-0.4388	0.01315	T	-0.527533	0.19535	T	0.0135274633791747	0.00248	T	0.443756	0.12997	T	0.050827693	0.09241	0.06050607	0.11535	0.050827693	0.09241	0.06050607	0.11535	-2.723	0.07498	T	.	.	0.079	0.19316	B	.;.;.	.;.;.	1.086516	0.14700	11.25	0.75056870035081458	0.10929	0.02388	0.06778	N	AEFGBHI	0.061359	0.11725	N	-0.782053221208367	0.13778	0.6812251	-0.697139770702491	0.17032	0.9037892	0.999377384751567	0.39355	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.05	0.987	0.18908	0.048000	0.13962	1.233000	0.25056	0.676000	0.76740	0.084000	0.22438	1.000000	0.68203	0.798000	0.37648	0.2677:0.3834:0.3488:0.0	5.413	0.15659	563	0.71062	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1045.27	35	chr5	122152001	.	G	A	1045.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.374;DP=277;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=-1.423;SOR=0.623	GT:AD:DP:GQ:PL	0/1:55,44:99:99:1055,0,1351	5	0	1	1
chr5	126545018	126545018	T	C	exonic	ALDH7A1	.	nonsynonymous SNV	ALDH7A1:NM_001202404:exon16:c.A1375G:p.T459A,ALDH7A1:NM_001182:exon18:c.A1567G:p.T523A,ALDH7A1:NM_001201377:exon18:c.A1483G:p.T495A	Epilepsy, pyridoxine-dependent, Autosomal recessive	4	1510	7	1	0	9	0.00297128	0.7900	0.478	YES	191988	not_specified|Pyridoxine-dependent_epilepsy|Inborn_genetic_diseases|not_provided	MedGen:CN169374|MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.853	.	0.0057	0.00119808	0.0045	0.0011	0.0013	0	0.0112	0.0059	0.0022	0.0030	0.0045278	700	154602	rs61757684	0.0056	0.0057	0.0058	0.0054	0.0060	0.0055	0.0055	0.0058	0.0058	0.0012	0.0013	0.0112	0	0.0102	0.0010	0.0060	0.0046	0.0038	0.0039	0.0039	0.0039	0.0039	0.0055	0.0037	0.0036	0.0050	0.0049	0.0009	0	0.0016	0.0101	0	0.0103	0	0.0055	0.0033	0.0025	0.001	0.78490	D	0.016	0.60972	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.01	0.25309	L	-2.72	0.90622	D	-4.73	0.80085	D	0.782	0.77883	0.598	0.91874	D	0.737	0.91004	D	10	0.015203267	0.00319	T	.	.	.	0.853	0.95470	.	.	0.834795797098	0.83322	0.8587515047953634	0.85838	0.646926983572	0.58097	0.717225492001	0.69643	T	0.806485	0.95118	D	0.0712838	0.61005	D	0.334745	0.89704	D	0.018689569022309	0.00582	T	0.965003	0.88196	D	0.90261525	0.91618	0.792654	0.87810	0.9126809	0.92547	0.72768456	0.83913	-9.723	0.73570	D	.	.	0.505	0.77325	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.928635	0.81244	27.5	0.9975172354874553	0.84305	0.98253	0.80960	D	AEFBI	0.874250	0.79703	D	0.625386349305992	0.74785	6.191944	0.577423764794868	0.73326	5.951972	0.999998735587552	0.74766	0.651	0.46895	0	0.610034	0.51514	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	4.78	4.78	0.60666	6.900000	0.75508	6.143000	0.54081	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.702000	0.34203	0.0:0.0:0.0:1.0	12.984	0.57981	678	0.60190	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.1429	794.32	25	chr5	126545018	.	T	C	794.32	.	AC=2;AF=0.143;AN=14;DP=178;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.55;SOR=1.022	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,995	6	1	0	0
chr5	126554286	126554286	C	A	splicing	ALDH7A1	NM_001182:exon13:c.1200+1G>T;NM_001201377:exon13:c.1116+1G>T	.	.	Epilepsy, pyridoxine-dependent, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.936	YES	454169	Pyridoxine-dependent_epilepsy|not_provided	MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1217642695	2.738e-06	2.736e-06	2.724e-06	2.752e-06	3.599e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.599e-06	0	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.926591	0.94084	33	0.99545244406190447	0.70773	0.99797	0.99532	D	AEFBI	.	.	.	1.13035590222599	0.98658	18.93974	0.963360650264605	0.97785	16.76022	0.999999962541062	0.74766	0.156188	0.03335	0	0.060609	0.00678	0	0.231514	0.04749	0	0.221052	0.04502	0	0.973415	0.75867	5.13	5.13	0.69729	5.541000	0.66921	4.873000	0.45587	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.605000	0.31514	0.0:1.0:0.0:0.0	18.532	0.90947	698	0.58074	.;.;.;.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	995.53	33	chr5	126554286	.	C	A	995.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.627;DP=271;ExcessHet=0;FS=0.767;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-0.719;SOR=0.551	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1100	6	0	1	0
chr5	128084239	128084239	-	GCGGCGGCGGCG	exonic	SLC12A2	.	nonframeshift insertion	SLC12A2:NM_001046:exon1:c.285_286insGCGGCGGCGGCG:p.A107_G108insAAAA,SLC12A2:NM_001256461:exon1:c.285_286insGCGGCGGCGGCG:p.A107_G108insAAAA	.	.	.	.	.	.	.	.	.	.	.	1361953	Kilquist_syndrome|Hearing_loss,_autosomal_dominant_78|Delpire-McNeill_syndrome|not_provided	MONDO:MONDO:0033664,MedGen:C5436756,OMIM:619080,Orphanet:633021|MONDO:MONDO:0033665,MedGen:C5436768,OMIM:619081|MONDO:MONDO:0033667,MedGen:C5436771,OMIM:619083,Orphanet:633024|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs747570026	3.012e-05	2.463e-05	3.25e-05	2.756e-05	0.0006	2.168e-05	1.913e-05	0.0001	4.482e-05	0	0	0	0	4.209e-05	0.0006	2.719e-05	0.0001	0	3.982e-05	3.949e-05	5.187e-05	2.719e-05	4.445e-05	1.73e-05	1.139e-05	1.18e-05	6.27e-06	2.427e-05	0	0	0	0	0.0002	0	4.445e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	93.79	12	chr5	128084239	.	T	TGCGGCGGCGGCG	93.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.191;DP=145;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=-0.914;SOR=0.941	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,1350	6	0	1	0
chr5	128990378	128990378	C	T	exonic	SLC27A6	.	stopgain	SLC27A6:NM_001017372:exon4:c.C883T:p.Q295X,SLC27A6:NM_001317984:exon5:c.C883T:p.Q295X,SLC27A6:NM_014031:exon5:c.C883T:p.Q295X	.	437	1080	5	0	0	5	0.00230947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00119808	0.0013	9.614e-05	0	0	0.0106	0.0007	0.0055	0.0025	0.0010931	169	154602	rs183450464	0.0007	0.0007	0.0007	0.0008	0.0027	0.0007	0.0007	0.0024	0.0023	5.977e-05	0	3.827e-05	0	0.0127	0.0005	0.0001	0.0006	0.0027	0.0011	0.0011	0.0007	0.0015	0.0021	0.0009	0.0009	0.0011	0.0009	7.222e-05	0	0	0	0	0.0114	0	0.0004	0.0009	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.055023	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.445	0.48319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299735	0.82947	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;Recessive;Recessive	.;High;High;High	9.006371	0.98330	39	0.99833079927476953	0.91456	0.94976	0.62988	D	AEFI	0.100963	0.20289	N	1.06512256627337	0.97433	16.11897	0.890763188351985	0.95157	13.363	0.336704936158687	0.19542	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.59	4.59	0.56297	4.517000	0.60221	4.247000	0.42738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:1.0:0.0:0.0	18.732	0.91701	562	0.71143	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1062.45	33	chr5	128990378	.	C	T	1062.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.86;DP=299;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=0.031;SOR=0.732	GT:AD:DP:GQ:PL	0/1:72,51:123:99:1073,0,1756	6	0	1	0
chr5	129904990	129904990	-	C	exonic	CHSY3	.	frameshift insertion	CHSY3:NM_175856:exon1:c.162dupC:p.R56Pfs*64	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	44.4	33	chr5	129904990	.	G	GC	44.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1079	6	0	1	0
chr5	131428991	131428991	G	C	exonic	RAPGEF6	.	nonsynonymous SNV	RAPGEF6:NM_016340:exon27:c.C4691G:p.S1564W,RAPGEF6:NM_001164386:exon28:c.C4715G:p.S1572W	.	.	.	.	.	.	.	.	.	.	.	4061218	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.092	0.0118635085181	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	2.722e-06	4.125e-06	2.319e-05	1e-06	7.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	8.993e-07	3.312e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.099	0.41742	T	0.993	0.65571	D	0.909	0.64565	D	0.027729	0.25711	N	0.374141	0.690154	0.81001	N	1.5	0.37844	L	1.75	0.26152	T	-1.26	0.31778	N	0.411	0.49146	-1.0461	0.15505	T	0.106	0.38611	T	10	0.2099869	0.37379	T	0.011864	0.29900	T	0.092	0.26621	0.335	0.32329	0.226560886239	0.22246	0.3470025264064406	0.34614	0.229004933151	0.25460	0.416171193123	0.27310	T	0.174892	0.52428	T	-0.0813778	0.39489	T	-0.35467	0.38670	T	0.792184472084045	0.45833	D	0.920308	0.71149	D	0.07682009	0.17398	0.09135839	0.21473	0.07682009	0.17398	0.09135839	0.21473	-7.489	0.57533	T	.	.	0.187	0.40522	B	.;.;.	.;.;.	3.397829	0.47076	22.4	0.98760496895471861	0.45800	0.85587	0.44735	D	AEFBI	0.371557	0.45753	N	0.372323041939568	0.59927	4.176428	0.318397362252932	0.56620	3.825676	0.917464509793381	0.26543	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.92	4.04	0.46262	2.061000	0.41030	4.445000	0.43400	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.882000	0.42233	0.0:0.1398:0.5777:0.2826	9.267	0.36806	392	0.83172	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1550.49	34	chr5	131428991	.	G	C	1550.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.79;DP=286;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=1.89;SOR=0.698	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1103	6	0	1	0
chr5	131492752	131492752	C	T	exonic	RAPGEF6	.	nonsynonymous SNV	RAPGEF6:NM_001164386:exon14:c.G1561A:p.A521T,RAPGEF6:NM_001164387:exon14:c.G1561A:p.A521T,RAPGEF6:NM_001164388:exon14:c.G1561A:p.A521T,RAPGEF6:NM_001164389:exon14:c.G1561A:p.A521T,RAPGEF6:NM_001164390:exon14:c.G1561A:p.A521T,RAPGEF6:NM_016340:exon14:c.G1561A:p.A521T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.458	0.0579681217695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.004	0.92824	D	0.999	0.90584	D	0.99	0.92359	D	0.000000	0.84330	D	0.000000	0.995913	0.81001	D	2.885	0.83555	M	1.59	0.28836	T	-3.19	0.67014	D	0.778	0.85132	-0.5477	0.66874	T	0.263	0.63416	T	10	0.7034554	0.72589	D	0.057968	0.67152	D	0.458	0.75619	0.371	0.38176	0.422413330959	0.41862	0.7088579397436269	0.70827	0.682033757252	0.60087	0.828315854073	0.86305	D	0.66066	0.89812	D	0.141879	0.68503	D	-0.0339768	0.68104	D	0.997034907341003	0.90620	D	0.996	0.98649	D	0.54112136	0.69459	0.6333109	0.78601	0.54112136	0.69460	0.6333109	0.78601	-10.768	0.78499	D	.	.	0.977	0.92429	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.545719	0.71494	25.7	0.99945315357113806	0.99886	0.98539	0.83865	D	AEFBI	0.847699	0.76455	D	0.952192538840127	0.94072	12.48125	0.927054237821452	0.96647	14.95987	1.0	0.98316	0.651	0.46895	0	0.615513	0.52658	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	6.04	6.04	0.98025	7.568000	0.81546	7.723000	0.67399	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.595	0.99442	387	0.83408	Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal;.;.;.;Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr5	131492752	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=194;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1269	6	1	0	0
chr5	132579330	132579330	G	A	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon4:c.G379A:p.V127I	Nijmegen breakage syndrome-like disorder	3	1500	18	1	0	20	0.00662252	.	.	.	133480	not_specified|not_provided|Nijmegen_breakage_syndrome-like_disorder|Hereditary_cancer-predisposing_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013118,MedGen:C2751318,OMIM:613078,Orphanet:240760|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.142	0.0138887376583	0.0018	0.000399361	0.0017	0.0003	0.0009	0.0001	0	0.0027	0.0022	0.0004	0.0015394	238	154602	rs28903086	0.0013	0.0013	0.0013	0.0014	0.0075	0.0013	0.0013	0.0057	0.0051	0.0002	0.0012	0.0098	2.521e-05	0.0001	0.0075	0.0013	0.0021	0.0006	0.0015	0.0015	0.0012	0.0017	0.0040	0.0013	0.0012	0.0032	0.0029	0.0002	0	0.0040	0.0107	0	0	0.0136	0.0016	0.0014	0.0004	0.251	0.37750	T	0.198	0.43159	T	0.999	0.77913	D	0.978	0.74104	D	0.000008	0.62929	D	0.107793	0.999927	0.81001	D	1.785	0.46417	L	1.97	0.22067	T	-0.85	0.23156	N	0.273	0.30914	-1.1075	0.03293	T	0.116	0.41008	T	10	0.009372592	0.00212	T	0.013889	0.33629	T	0.142	0.37995	.	.	0.603090222555	0.59992	0.3234470342466072	0.32257	.	.	0.512988805771	0.40641	T	0.022545	0.29965	T	-0.452504	0.01092	T	-0.429243	0.30020	T	0.0351086830079902	0.02827	T	0.89781	0.78426	D	0.2301101	0.45760	0.21668446	0.46305	0.2301101	0.45760	0.21668446	0.46304	-5.559	0.42416	T	0.3448653139655321	0.44242	0.093	0.14015	B	.;.;.;.;.;.	.;.;.;.;.;.	3.165794	0.42909	21.6	0.99752672536328513	0.84382	0.96551	0.69706	D	AEFBI	0.455965	0.50803	N	0.656899531823253	0.76816	6.556754	0.676887313599939	0.80628	7.341078	0.62270337508391	0.21899	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.69	5.69	0.88346	4.896000	0.62911	4.411000	0.43281	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.801	0.91984	816	0.41767	.;.;.;.;Rad50/SbcC-type AAA domain;Rad50/SbcC-type AAA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005035	0.000000	0.005435	0.011696	0.000000	0.000000	0.003049	0.000000	0.07143	369.63	31	chr5	132579330	.	G	A	369.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.438;DP=195;ExcessHet=0;FS=1.824;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=0.179;SOR=0.252	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1122	6	0	1	0
chr5	132826007	132826007	G	T	exonic	SHROOM1	.	nonsynonymous SNV	SHROOM1:NM_133456:exon1:c.C134A:p.P45Q,SHROOM1:NM_001172700:exon4:c.C134A:p.P45Q	.	408	1090	24	0	0	24	0.0108893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0027	0.00299521	0.0125	0.0066	0.0489	0	0	0.0165	0.0183	0.0017	0.0035705	552	154602	rs143556262	0.0043	0.0044	0.0043	0.0044	0.0303	0.0042	0.0042	0.0266	0.0252	0.0028	0.0081	0.0195	3.022e-05	0.0002	0.0303	0.0042	0.0069	0.0010	0.0054	0.0054	0.0054	0.0054	0.0123	0.0051	0.0050	0.0109	0.0104	0.0032	0.0844	0.0123	0.0228	0.0002	9.413e-05	0.0170	0.0046	0.0128	0.0008	0.004	0.65419	D	0.038	0.52727	D	0.445	0.38813	B	0.086	0.40037	B	0.073608	0.21335	N	0.450054	0.997853	0.22475	N	1.24	0.30952	L	1.59	0.28836	T	-1.0	0.36189	N	0.15	0.15749	-1.0651	0.10526	T	0.049	0.21065	T	10	0.0021722615	0.00031	T	.	.	.	0.025	0.05312	.	.	0.390687800842	0.38684	0.2563370100434633	0.25547	1.85053627727	0.92283	0.62879884243	0.56974	T	0.015441	0.16816	T	-0.58936	0.00169	T	-0.607675	0.12174	T	0.0175188138830554	0.00487	T	0.555444	0.19458	T	0.07915242	0.18067	0.05722803	0.10366	0.07915242	0.18067	0.05722803	0.10366	-5.289	0.39913	T	.	.	0.085	0.17103	B	.;.;.;.;.	.;.;.;.;.	2.464583	0.31755	18.84	0.98180467203916133	0.38941	0.61743	0.31574	D	AEFDBCI	0.158046	0.28365	N	-0.499384681410579	0.22101	1.177747	-0.459099150949242	0.23290	1.269379	0.99997135325885	0.50053	0.685219	0.55550	0	0.748881	0.99253	0	0.674405	0.61402	0	0.699875	0.68795	0	.	.	4.18	2.15	0.26590	0.175000	0.16577	1.431000	0.26447	-0.148000	0.12190	0.002000	0.15269	0.930000	0.28522	0.032000	0.13371	0.0:0.0:0.5755:0.4245	8.450	0.32028	909	0.22467	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026558	0.063830	0.030387	0.026471	0.000000	0.025862	0.015432	0.011538	0.07143	372.83	35	chr5	132826007	.	G	T	372.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.129;DP=218;ExcessHet=0;FS=3.012;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=-0.727;SOR=1.371	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1139	6	0	1	0
chr5	133975920	133975920	C	A	exonic	VDAC1	.	nonsynonymous SNV	VDAC1:NM_003374:exon7:c.G653T:p.R218L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326	0.0289082544387	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.34269	T	0.207	0.26969	T	0.043	0.21573	B	0.038	0.23361	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.76	0.45711	L	0.97	0.42502	T	-4.35	0.76900	D	0.892	0.89131	-1.0227	0.22834	T	0.113	0.40261	T	10	0.79060733	0.78627	D	0.028908	0.51509	D	0.326	0.64826	0.496	0.58520	0.364535869594	0.36064	0.6840805161537953	0.68347	0.831011690156	0.67623	0.868237018585	0.92315	D	0.404379	0.76086	T	0.226412	0.76381	D	0.0874486	0.76075	D	0.984549641609192	0.75818	D	0.926807	0.73035	D	0.69558173	0.77815	0.4600653	0.68638	0.69558173	0.77817	0.4600653	0.68638	-13.604	0.91698	D	.	.	0.642	0.70791	P	.;.;.	.;.;.	5.120361	0.85639	28.7	0.99739228976731942	0.83337	0.99206	0.92796	D	AEFBI	0.932266	0.92236	D	0.165867202573607	0.49564	3.155521	0.351327465103985	0.58589	4.030189	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	7.869000	0.85513	4.897000	0.45822	0.534000	0.24903	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:1.0:0.0:0.0	19.510	0.95129	187	0.92701	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1064.49	33	chr5	133975920	.	C	A	1064.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.079;DP=284;ExcessHet=0;FS=2.972;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=0.676;SOR=0.416	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,112,1581	6	0	1	0
chr5	134578685	134578685	C	T	exonic	JADE2	.	nonsynonymous SNV	JADE2:NM_001289984:exon11:c.C1744T:p.R582W,JADE2:NM_015288:exon11:c.C1741T:p.R581W,JADE2:NM_001289985:exon12:c.C1921T:p.R641W,JADE2:NM_001308143:exon12:c.C1873T:p.R625W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0440744588535	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs34200923	2.737e-06	2.736e-06	4.085e-06	1.375e-06	2.698e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.53172	D	0.185	0.55759	T	0.997	0.70673	D	0.642	0.52168	P	0.351896	0.13803	N	0.652897	1	0.81001	D	0	0.06538	N	0.87	0.47130	T	-2.04	0.46842	N	0.398	0.57092	-0.8141	0.54300	T	0.099	0.36983	T	10	0.14137149	0.26863	T	0.044074	0.61307	D	0.173	0.43840	0.229	0.15556	0.196089822672	0.19227	0.5443188657691276	0.54357	1.64757782107	0.89487	0.684662342072	0.64938	T	0.025353	0.26335	T	-0.0803495	0.39660	T	-0.353193	0.38839	T	0.713992947630079	0.41397	D	0.958304	0.85901	D	0.08771398	0.20436	0.10884233	0.26224	0.08771398	0.20436	0.10884233	0.26223	-5.76	0.44224	T	.	.	0.323	0.65907	B	.;.;.;.	.;.;.;.	4.477939	0.69836	25.4	0.99874537288704845	0.95160	0.96532	0.69610	D	AEFDBI	0.732995	0.67957	D	-0.0614432468062892	0.39093	2.299896	-0.0526931610318249	0.37374	2.187445	0.998525105097966	0.37129	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.34	0.075	0.13710	2.760000	0.47262	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.8192:0.1808:0.0:0.0	15.851	0.78713	846	0.36215	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2366.44	35	chr5	134578685	.	C	T	2366.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.78;DP=357;ExcessHet=0;FS=2.737;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-0.825;SOR=0.88	GT:AD:DP:GQ:PL	0/1:73,93:166:99:2377,0,1563	6	0	1	0
chr5	135009435	135009435	A	G	exonic	CATSPER3	.	nonsynonymous SNV	CATSPER3:NM_178019:exon6:c.A881G:p.K294R	.	407	1102	13	0	0	13	0.00586378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.419	.	0.0044	0.000998403	0.0052	0.0013	0.0005	0	0.0191	0.0060	0.0088	0.0048	0.0050064	774	154602	rs142494932	0.0066	0.0066	0.0067	0.0065	0.0070	0.0065	0.0064	0.0069	0.0069	0.0006	0.0006	0.0002	0	0.0169	0.0019	0.0070	0.0057	0.0054	0.0048	0.0048	0.0041	0.0056	0.0064	0.0046	0.0044	0.0059	0.0057	0.0011	0	0.0007	0.0003	0	0.0201	0	0.0064	0.0033	0.0048	0.016	0.51853	D	0.0	0.92824	D	0.578	0.38765	P	0.159	0.34693	B	0.000043	0.53742	D	0.000000	0.900165	0.27716	N	2.42	0.70002	M	-4.32	0.97218	D	-1.63	0.39119	N	0.246	0.27792	0.332	0.88060	D	0.761	0.91858	D	10	0.006649524	0.00151	T	.	.	.	0.419	0.72855	.	.	0.750660540831	0.74841	0.650057591843229	0.64941	0.148459400846	0.16742	0.457537829876	0.32972	T	0.120876	0.44343	T	-0.2343	0.16084	T	-0.103783	0.63103	T	0.021033309575824	0.00804	T	0.634936	0.24909	T	0.1104689	0.26111	0.13452666	0.32233	0.1104689	0.26110	0.13452666	0.32233	-4.001	0.23819	T	.	.	0.127	0.26978	B	.	.	3.596782	0.50782	23.0	0.99821231491869544	0.90414	0.64942	0.32572	D	AEFDGBHCI	0.235527	0.35812	N	-0.156451458973241	0.34960	2.002159	-0.123693374079516	0.34437	1.980904	0.193719634963112	0.18032	0.533608	0.22052	0	0.588015	0.36545	0	0.685742	0.62368	0	0.564101	0.26826	0	.	.	4.89	2.51	0.29435	1.826000	0.38730	.	.	-0.050000	0.17177	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.8057:0.0:0.1943:0.0	6.668	0.22243	803	0.44167	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1264.46	90	chr5	135009435	.	A	G	1264.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.208;DP=301;ExcessHet=0;FS=0.807;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=-0.466;SOR=0.551	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,116,1452	6	0	1	0
chr5	136046401	136046401	C	T	exonic	TGFBI	.	nonsynonymous SNV	TGFBI:NM_000358:exon4:c.C365T:p.T122M	Corneal dystrophy, Avellino type, Autosomal dominant;Corneal dystrophy, Groenouw type I, Autosomal dominant;Corneal dystrophy, Reis-Bucklers type;Corneal dystrophy, Thiel-Behnke type, Autosomal dominant;Corneal dystrophy, epithelial basement membrane, Autosomal dominant;Corneal dystrophy, lattice type I, Autosomal dominant;Corneal dystrophy, lattice type IIIA, Autosomal dominant	0	1519	2	1	0	4	0.00131492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607	0.268103499344	.	.	8.306e-05	0	0	0	0	4.509e-05	0	0.0004	6.47e-05	10	154602	rs780759366	7.047e-05	7.046e-05	5.037e-05	9.077e-05	0.0006	5.914e-05	5.523e-05	0.0005	0.0004	0	2.237e-05	3.826e-05	2.519e-05	0	0	4.137e-05	3.313e-05	0.0006	3.284e-05	3.281e-05	0	6.715e-05	0.0002	1.26e-05	7.98e-06	4.88e-06	1.83e-06	0	0	6.534e-05	0	0.0002	0	0	2.94e-05	0	0.0002	0.002	0.72154	D	0.002	0.79402	D	0.996	0.68779	D	0.89	0.63157	P	0.000000	0.84330	D	0.093602	0.999994	0.58761	D	-0.75	0.01730	N	-2.83	0.91249	D	-1.5	0.36586	N	0.332	0.37301	0.563	0.91410	D	0.655	0.88008	D	10	0.4495327	0.58610	T	0.268103	0.89772	D	0.607	0.84559	0.583	0.70990	0.968273446954	0.96793	0.6937519274284111	0.69315	0.299618368744	0.32332	0.60230755806	0.53231	T	0.284186	0.65696	T	-0.108353	0.35039	T	-0.0571592	0.66530	T	0.288304697942419	0.24518	T	0.940606	0.77652	D	0.57409036	0.71284	0.38569042	0.63480	0.57409036	0.71285	0.38569042	0.63480	-5.647	0.43219	T	0.17750299825932392	0.22703	0.109	0.20896	B	.	.	5.218687	0.87585	29.3	0.99929061621824544	0.99279	0.96466	0.69278	D	AEFDBHCI	0.972833	0.99453	D	0.55986406387807	0.70684	5.53795	0.657636946205884	0.79180	7.028348	1.0	0.98316	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.83	5.83	0.93059	7.905000	0.86479	7.657000	0.64017	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	20.122	0.97964	775	0.48401	FAS1 domain|FAS1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1828.46	34	chr5	136046401	.	C	T	1828.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.014;DP=316;ExcessHet=0;FS=1.338;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=0.708;SOR=0.584	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1140	6	0	1	0
chr5	138181443	138181443	G	A	exonic	KIF20A	.	nonsynonymous SNV	KIF20A:NM_005733:exon3:c.G187A:p.E63K	.	435	1081	6	0	0	6	0.00276753	.	.	.	721229	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.107	.	0.0003	0.00798722	0.0081	0.0003	0.0352	0.0307	0.0237	0.0019	0.0143	0.0005	0.0070504	1090	154602	rs3734116	0.0027	0.0027	0.0029	0.0026	0.0284	0.0027	0.0026	0.0271	0.0266	0.0002	0.0284	3.826e-05	0.0204	0.0243	0.0005	0.0003	0.0030	0.0008	0.0045	0.0045	0.0033	0.0058	0.0274	0.0042	0.0041	0.0237	0.0223	0.0002	0	0.0112	0	0.0274	0.0268	0	0.0009	0.0061	0.0006	0.039	0.42487	D	0.198	0.29249	T	0.682	0.41464	P	0.202	0.36942	B	0.008271	0.30928	N	0.149503	0.999759	0.54805	D	1.65	0.42232	L	2.23	0.70365	T	-2.41	0.52938	N	0.249	0.33360	-0.7120	0.59854	T	0.125	0.43028	T	10	0.006201625	0.00140	T	.	.	.	0.107	0.30369	.	.	0.765344188043	0.76320	0.5378201080403755	0.53707	1.70071209603	0.90279	0.422218024731	0.28142	T	0.068381	0.33443	T	-0.317222	0.07128	T	-0.201284	0.54525	T	0.0313485906176549	0.02202	T	0.89801	0.64352	D	0.18532784	0.39890	0.17170508	0.39372	0.18532784	0.39890	0.17170508	0.39371	-9.11	0.68401	D	.	.	0.291	0.52219	B	.;.;.;.	.;.;.;.	3.728383	0.53317	23.3	0.99841561043542626	0.92229	0.99501	0.96794	D	AEFBI	0.870076	0.79089	D	0.251892416619992	0.53731	3.540876	0.386440201124813	0.60728	4.263735	0.999999999999994	0.74766	0.722319	0.85440	0	0.587265	0.34161	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.44	5.44	0.79348	6.116000	0.71264	9.939000	0.82641	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:1.0:0.0	19.270	0.93993	172	0.93355	.;Kinesin motor domain;.;Kinesin motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.1429	1968.29	34	chr5	138181443	.	G	A	1968.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.14;DP=305;ExcessHet=0.3476;FS=4.82;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=0.543;SOR=1.083	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1293	5	0	2	0
chr5	138386226	138386226	G	A	exonic	KDM3B	.	nonsynonymous SNV	KDM3B:NM_016604:exon7:c.G985A:p.A329T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0050907779686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	0.19639	T	0.448	0.13030	T	0.001	0.07471	B	0.001	0.04355	B	0.000815	0.41658	N	0.203233	1	0.81001	D	0.55	0.14455	N	0.11	0.61208	T	-0.27	0.11366	N	0.175	0.18784	-1.0628	0.11069	T	0.090	0.34463	T	10	0.06675702	0.09204	T	0.005091	0.12908	T	0.091	0.26358	0.132	0.03662	0.147330786459	0.14319	0.1916634261127402	0.19084	0.550695722903	0.51928	0.434996545315	0.29892	T	0.010045	0.09105	T	-0.219422	0.18073	T	-0.552961	0.17042	T	0.100532970980296	0.12416	T	0.712529	0.32403	T	0.026300933	0.01671	0.050727747	0.08021	0.026300933	0.01671	0.050727747	0.08020	-3.985	0.23578	T	.	.	0.065	0.01884	B	.	.	2.111299	0.26865	17.27	0.98544586678743984	0.42770	0.79100	0.39133	D	AEFBI	0.192396	0.31955	N	-0.380122664428079	0.26178	1.426746	-0.197696092152855	0.31621	1.79126	0.999871070192208	0.44625	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.35	3.57	0.40014	0.730000	0.25711	2.928000	0.35601	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.1636:0.1348:0.5444:0.1572	2.629	0.04638	367	0.84523	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	212.9	96	chr5	138386226	.	G	A	212.9	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.643;DP=484;ExcessHet=0;FS=321.354;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.9;ReadPosRankSum=2.22;SOR=7.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1099:.	6	0	1	0
chr5	138391480	138391480	G	T	exonic	KDM3B	.	nonsynonymous SNV	KDM3B:NM_016604:exon8:c.G1848T:p.E616D	.	423	1092	7	0	0	7	0.00319489	.	.	.	721231	KDM3B-related_disorder|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.076	0.00658677664402	0.0035	0.00159744	0.0036	0.0008	0.0014	0	0.0017	0.0054	0.0078	0.0018	0.0035575	550	154602	rs34608821	0.0032	0.0032	0.0030	0.0034	0.0087	0.0031	0.0031	0.0068	0.0061	0.0007	0.0017	0.0218	7.557e-05	0.0008	0.0087	0.0031	0.0039	0.0024	0.0030	0.0030	0.0032	0.0028	0.0039	0.0028	0.0027	0.0035	0.0034	0.0009	0	0.0034	0.0210	0	0.0008	0.0136	0.0039	0.0033	0.0019	0.408	0.10212	T	0.54	0.09760	T	0.0	0.02946	B	0.001	0.04355	B	0.023288	0.26470	N	0.405962	0.87772	0.81001	D	0	0.06538	N	-0.05	0.63403	T	-0.99	0.26200	N	0.047	0.01911	-1.1128	0.02840	T	0.059	0.24797	T	10	0.0025058687	0.00038	T	0.006587	0.17386	T	0.076	0.22200	0.063	0.00257	0.189391138174	0.18552	0.08823589275261579	0.08756	0.515532960109	0.49461	0.400202512741	0.25096	T	0.011049	0.09905	T	-0.538587	0.00342	T	-0.546016	0.17710	T	0.0140821131484894	0.00274	T	0.782222	0.41780	T	0.042526472	0.06467	0.032971773	0.02118	0.042526472	0.06467	0.032971773	0.02117	-4.58	0.31920	T	.	.	0.067	0.02428	B	.	.	1.270536	0.16691	12.70	0.80954532508335075	0.13449	0.79868	0.39664	D	AEFGBI	0.077041	0.15514	N	-0.792638441992666	0.13500	0.6655352	-0.628984887625744	0.18749	1.002999	0.858834449411682	0.25186	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.19	-0.02	0.13283	0.526000	0.22680	2.679000	0.34003	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.3222:0.1072:0.43:0.1405	1.912	0.03090	388	0.83355	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.006042	0.000000	0.004076	0.002924	0.000000	0.000000	0.018293	0.003788	0.07143	1761.63	134	chr5	138391480	.	G	T	1761.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.225;DP=313;ExcessHet=0;FS=1.351;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=0.608;SOR=0.579	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1342	6	0	1	0
chr5	138420871	138420871	G	A	exonic	KDM3B	.	nonsynonymous SNV	KDM3B:NM_016604:exon15:c.G3881A:p.R1294Q	.	.	.	.	.	.	.	.	.	.	.	4155440	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.487	0.0264325175001	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455870622	1.368e-06	1.368e-06	2.722e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.0	0.92824	D	0.989	0.62824	D	0.699	0.54128	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.74	0.80084	M	-0.63	0.72011	T	-3.05	0.62976	D	0.752	0.75101	0.295	0.87479	D	0.641	0.87469	D	10	0.6276253	0.68333	D	0.026433	0.49337	D	0.487	0.77528	0.074	0.00491	0.563628423525	0.56026	0.7022740770218915	0.70168	1.18456262577	0.80108	0.729091584682	0.71373	T	0.28036	0.65306	T	0.228727	0.76601	D	0.173639	0.81624	D	0.920145510317461	0.57918	D	0.972403	0.89999	D	0.47857893	0.65814	0.366773	0.62000	0.47857893	0.65815	0.366773	0.62000	-9.49	0.70797	D	.	.	0.870	0.80866	P	.;.	.;.	5.361681	0.89912	31	0.9994924627745696	0.99931	0.99307	0.94267	D	AEFGBI	0.889619	0.82387	D	0.849550823843918	0.89083	9.827872	0.847873323007769	0.92892	11.69509	0.999999999981405	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	9.345000	0.96456	11.797000	0.96542	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.658	0.95849	396	0.82953	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1541.44	34	chr5	138420871	.	G	A	1541.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.436;DP=288;ExcessHet=0;FS=0.774;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.41;ReadPosRankSum=-1.111;SOR=0.577	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1418	6	0	1	0
chr5	138810106	138810106	A	G	exonic	CTNNA1	.	startloss	CTNNA1:NM_001290309:exon3:c.A61G:p.M21V,CTNNA1:NM_001290307:exon4:c.A370G:p.M124V,CTNNA1:NM_001290310:exon4:c.A1G:p.M1?,CTNNA1:NM_001323983:exon4:c.A370G:p.M124V,CTNNA1:NM_001323985:exon4:c.A370G:p.M124V,CTNNA1:NM_001323986:exon4:c.A370G:p.M124V,CTNNA1:NM_001903:exon4:c.A370G:p.M124V,CTNNA1:NM_001323982:exon5:c.A370G:p.M124V,CTNNA1:NM_001323984:exon5:c.A370G:p.M124V	Macular dystrophy, patterned, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	633295	Hereditary_cancer-predisposing_syndrome|not_provided|Patterned_macular_dystrophy_2	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0012162,MedGen:C1837029,OMIM:608970,Orphanet:99001	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.268	0.0233129120605	.	.	9.884e-05	0	0	0	0	0	0	0.0007	8.41e-05	13	154602	rs765587517	4.652e-05	4.652e-05	2.995e-05	6.325e-05	0.0005	3.727e-05	3.411e-05	0.0004	0.0004	0	0.0001	0	0	0	0.0005	1.079e-05	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.478	0.12878	T	0.248	0.26631	T	0.213	0.36465	B	0.054	0.39041	B	0.000000	0.84330	D	0.036402	1	0.81001	D	1.645	0.42016	L	1.2	0.40218	T	-2.49	0.54217	N	0.908	0.91162	-1.0925	0.05128	T	0.073	0.29483	T	9	0.20904067	0.37253	T	0.023313	0.46264	T	0.268	0.58254	.	.	0.785977951389	0.78399	0.637054760766422	0.63639	0.176751591813	0.19889	0.813790917397	0.84074	D	0.024346	0.56621	T	-0.144869	0.29119	T	-0.109612	0.62643	T	0.138025102675103	0.16103	T	0.855114	0.54241	D	0.47510016	0.65602	0.2862423	0.54632	0.47510016	0.65603	0.2862423	0.54631	-10.257	0.75436	D	0.1361440388761604	0.14863	0.453	0.67246	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.685799	0.52486	23.2	0.97570515879833675	0.34675	0.95645	0.65555	D	AEFGBCI	0.962522	0.98414	D	0.0686240171773444	0.45004	2.764296	0.233094474013113	0.51692	3.349655	0.999921300745734	0.46280	0.736574	0.97449	0	0.724815	0.89359	0	0.724815	0.87919	0	0.677812	0.66336	0	.	.	5.62	4.44	0.53164	7.508000	0.80566	9.441000	0.80828	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8694:0.0:0.0:0.1306	11.933	0.52139	.	.	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	716.46	53	chr5	138810106	.	A	G	716.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.191;DP=225;ExcessHet=0;FS=5.893;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-1.164;SOR=1.435	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1156	6	0	1	0
chr5	139051017	139051017	G	A	exonic	SIL1	.	nonsynonymous SNV	SIL1:NM_022464:exon4:c.C274T:p.R92W,SIL1:NM_001037633:exon5:c.C274T:p.R92W	Marinesco-Sjogren syndrome, Autosomal recessive	2	1507	13	0	0	13	0.00429468	.	.	.	297332	X-linked_intellectual_disability-short_stature-overweight_syndrome|not_specified|not_provided|Marinesco-Sjögren_syndrome	MONDO:MONDO:0010496,MedGen:C0796218,OMIM:300957,Orphanet:457240|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009567,MedGen:C0024814,OMIM:248800,Orphanet:559	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.651	.	7.7e-05	0.00559105	0.0055	0.0005	0.0005	0.0001	0	7.492e-05	0.0022	0.0390	0.0046442	718	154602	rs149242794	0.0025	0.0025	0.0014	0.0037	0.0403	0.0025	0.0025	0.0392	0.0388	5.974e-05	6.708e-05	0	5.038e-05	0	0.0009	9.443e-05	0.0021	0.0403	0.0014	0.0014	0.0007	0.0020	0.0404	0.0012	0.0012	0.0358	0.0340	0.0002	0	0	0	0.0002	0	0.0034	5.882e-05	0	0.0404	0.001	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.986	0.78396	D	0.000001	0.62929	D	0.054336	0.994436	0.42281	D	1.955	0.52871	M	-0.59	0.71543	T	-5.63	0.94223	D	0.928	0.94077	0.028	0.82807	D	0.523	0.82225	D	10	0.010771424	0.00238	T	.	.	.	0.651	0.86836	.	.	0.877052346161	0.87585	0.6527762419249064	0.65213	0.882852325321	0.69832	0.67709851265	0.63853	T	0.830761	0.95956	D	-0.0243582	0.48230	T	0.220803	0.84213	D	0.0966648254909865	0.11985	T	0.985551	0.97997	D	0.50799036	0.67562	0.3459323	0.60268	0.5122592	0.67812	0.3634979	0.61735	-9.907	0.73353	D	0.8458133966197738	0.91324	0.402	0.62941	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.888975	0.56570	23.8	0.99898109683481351	0.97048	0.57578	0.30413	D	AEFGBI	0.522537	0.54651	D	0.299293780107587	0.56114	3.775589	0.142648700226275	0.46755	2.916279	0.416986442230796	0.20260	0.719381	0.83141	0	0.723133	0.82719	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.32	2.43	0.28797	1.055000	0.30077	2.811000	0.34908	0.676000	0.76740	0.435000	0.26448	0.999000	0.35428	0.329000	0.25179	0.0:0.0:0.5071:0.4929	11.034	0.47008	597	0.68309	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004532	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.034091	0.07143	1544.45	34	chr5	139051017	.	G	A	1544.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.704;DP=329;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-0.223;SOR=0.668	GT:AD:DP:GQ:PL	0/1:77,69:146:99:1555,0,1732	6	0	1	0
chr5	139319502	139319502	-	CTTT	splicing	MATR3	NM_001282278:exon11:c.588+1->CTTT;NM_001194954:exon11:c.1602+1->CTTT;NM_199189:exon12:c.1602+1->CTTT;NM_018834:exon9:c.1602+1->CTTT;NM_001194956:exon8:c.738+1->CTTT;NM_001194955:exon9:c.1602+1->CTTT	.	.	Amyotrophic lateral sclerosis 21, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.442e-05	0.0006	9.571e-06	1.932e-05	2.323e-05	9.27e-06	7.87e-06	8.13e-06	6.45e-06	0	0	7.726e-05	0	0	0	1.354e-05	3.328e-05	2.323e-05	6.579e-06	5.911e-05	1.286e-05	0	6.553e-05	0	0	.	.	0	0	6.553e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	38.43	12	chr5	139319502	.	G	GCTTT	38.43	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.04;DP=115;ExcessHet=0;FS=8.817;MLEAC=1;MLEAF=0.083;MQ=59.28;MQRankSum=0;QD=1.33;ReadPosRankSum=-1.328;SOR=2.91	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:21,0:21:60:.:.:0,60,900:.	5	0	1	1
chr5	139322969	139322969	-	GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAA	splicing	MATR3	NM_001282278:exon14:c.1134+2->GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAA;NM_001194954:exon14:c.2148+2->GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAA;NM_199189:exon15:c.2148+2->GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAA;NM_018834:exon12:c.2148+2->GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAA;NM_001194956:exon11:c.1284+2->GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAA;NM_001194955:exon12:c.2148+2->GGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAA	.	.	Amyotrophic lateral sclerosis 21, Autosomal dominant	6	1499	2	0	15	17	0.000666667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.437e-05	2.394e-05	1.089e-05	1.788e-05	3.48e-05	9.23e-06	7.84e-06	9.24e-06	6.89e-06	0	0	0	0	0	0	1.439e-05	3.312e-05	3.48e-05	3.943e-05	0.0002	3.857e-05	4.032e-05	0.0002	1.716e-05	1.13e-05	1.973e-05	1.125e-05	0	0	0	0	0	9.439e-05	0	5.885e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	527.23	18	chr5	139322969	.	T	TGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAA	527.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.58;DP=179;ExcessHet=0;FS=1.69;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.53;ReadPosRankSum=-1.578;SOR=0.313	GT:AD:DP:GQ:PL	0/0:29,0:29:81:0,81,1215	5	0	1	1
chr5	139394501	139394501	T	A	exonic	PROB1	.	nonsynonymous SNV	PROB1:NM_001161546:exon1:c.A581T:p.E194V	.	410	1100	11	1	0	13	0.00587438	.	.	.	2400965	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.241	0.299907985876	.	0.000199681	0	0	0	0	0	0	0	0	7.68e-05	2	26028	rs199886274	0.0002	0.0002	0.0002	0.0002	0.0020	0.0002	0.0002	0.0011	0.0008	0.0003	0.0002	0.0004	0	0.0003	0.0020	0.0002	0.0004	1.592e-05	0.0002	0.0002	0.0002	0.0001	0.0005	0.0001	0.0001	0.0002	0.0002	4.822e-05	0	0.0005	0.0003	0	0	0	0.0002	0.0005	0	0.0	0.91255	D	0.016	0.60972	D	0.998	0.73220	D	0.964	0.71005	D	.	.	.	.	0.843217	0.28601	N	1.7	0.43825	L	.	.	.	-2.14	0.48523	N	0.536	0.56403	-0.9506	0.40868	T	0.139	0.45810	T	8	0.3284135	0.50111	T	0.299908	0.90847	D	0.241	0.54641	0.295	0.25881	0.371531589858	0.36766	0.5112456057661855	0.51046	.	.	0.846853017807	0.89138	D	0.036422	0.24096	T	-0.289166	0.09720	T	-0.355584	0.38563	T	0.176193228908363	0.18991	T	0.523548	0.17131	T	0.30372795	0.53237	0.20325549	0.44393	0.30372795	0.53237	0.20325549	0.44392	-4.379	0.29271	T	.	.	0.607	0.69173	P	.	.	4.158448	0.62428	24.5	0.99116013655713597	0.52854	0.52717	0.29198	D	AEFDBHCI	0.274945	0.39001	N	0.0751945227284188	0.45308	2.789466	0.0345462446706573	0.41332	2.481326	0.999999977375548	0.74766	0.56387	0.32371	0	0.484254	0.07192	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.4	3.23	0.36150	0.462000	0.21667	7.791000	0.68894	0.578000	0.29377	0.007000	0.17678	1.000000	0.68203	0.580000	0.30894	0.181:0.0984:0.0:0.7206	4.027	0.09176	627	0.65350	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	753.63	32	chr5	139394501	.	T	A	753.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.026;DP=240;ExcessHet=0;FS=2.481;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.272;SOR=1.19	GT:AD:DP:GQ:PL	0/1:29,28:57:99:764,0,795	6	0	1	0
chr5	139887481	139887481	C	T	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G731A:p.S244N,NRG2:NM_004883:exon2:c.G731A:p.S244N,NRG2:NM_013981:exon2:c.G731A:p.S244N,NRG2:NM_013982:exon2:c.G731A:p.S244N,NRG2:NM_013983:exon2:c.G731A:p.S244N	.	.	.	.	.	.	.	.	.	.	.	2325350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.00739077046255	.	.	8.286e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs774596341	1.371e-06	1.369e-06	1.365e-06	1.378e-06	1.804e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.804e-06	0	0	6.59e-06	6.574e-06	0	1.35e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.184	0.23360	T	0.164	0.31026	T	0.087	0.26037	B	0.062	0.30857	B	0.000522	0.43581	N	0.227934	0.755028	0.33972	D	0.135	0.08676	N	1.58	0.29085	T	-0.32	0.21003	N	0.423	0.46274	-1.0194	0.23910	T	0.045	0.19518	T	10	0.22371674	0.39157	T	0.007391	0.19603	T	0.031	0.07369	0.366	0.37361	0.498748557451	0.49510	0.4556412808571356	0.45482	0.884494878246	0.69920	0.694656133652	0.66374	T	0.195255	0.55127	T	-0.302609	0.08415	T	-0.672453	0.07451	T	0.361964405132886	0.27486	T	0.79652	0.44558	T	0.08836372	0.20609	0.102840796	0.24660	0.08836372	0.20609	0.102840796	0.24659	-7.518	0.70016	D	.	.	0.221	0.45409	B	.;.;.;.;.;.	.;.;.;.;.;.	3.573511	0.50344	22.9	0.99603636505572957	0.74338	0.69576	0.34242	D	AEFBI	0.254283	0.37363	N	-0.162749740398921	0.34693	1.983396	0.0478054099699094	0.41967	2.53021	0.600115135775481	0.21718	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	5.29	0.74430	2.879000	0.48220	5.991000	0.52331	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9072:0.0:0.0928	10.020	0.41207	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	406.97	64	chr5	139887481	.	C	T	406.97	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-3.088;DP=351;ExcessHet=1.1394;FS=365.426;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=1.93;ReadPosRankSum=0.151;SOR=7.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1254:.	4	0	3	0
chr5	140346004	140346004	G	A	exonic	HBEGF	.	nonsynonymous SNV	HBEGF:NM_001945:exon2:c.C127T:p.P43S	.	2	1509	11	0	0	11	0.00363156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00613609748223	0.0022	0.00219649	0.0035	0.0008	0.0016	0.0001	0.0062	0.0039	0.0068	0.0054	0.003247	502	154602	rs139432818	0.0033	0.0033	0.0033	0.0034	0.0049	0.0032	0.0032	0.0045	0.0043	0.0006	0.0021	0.0029	0	0.0056	0.0024	0.0034	0.0032	0.0049	0.0027	0.0027	0.0024	0.0029	0.0043	0.0025	0.0024	0.0034	0.0033	0.0006	0	0.0021	0.0026	0	0.0046	0	0.0038	0.0043	0.0043	0.513	0.07425	T	0.621	0.07419	T	0.02	0.18235	B	0.02	0.19048	B	0.124377	0.18882	N	0.555420	0.99015	0.24208	N	1.955	0.52871	M	1.48	0.31731	T	1.0	0.01408	N	0.131	0.12627	-0.9862	0.33542	T	0.060	0.24945	T	10	0.0069981813	0.00159	T	0.006136	0.16052	T	0.046	0.12618	.	.	0.340432005269	0.33650	0.3912665283742663	0.39041	0.885821460284	0.69988	0.436285078526	0.30069	T	0.370469	0.73501	T	-0.534666	0.00360	T	-0.53942	0.18352	T	0.00313692911508436	0.00033	T	0.652235	0.26282	T	0.028416734	0.02176	0.055523414	0.09754	0.028416734	0.02176	0.055523414	0.09753	-3.219	0.12714	T	.	.	0.072	0.04238	B	.	.	2.037304	0.25894	16.93	0.93900237369905803	0.23930	0.75883	0.37178	D	ALL	0.228758	0.35238	N	-0.670440907339601	0.16867	0.8631453	-0.51019652624251	0.21876	1.185522	0.999999999951962	0.74766	0.652421	0.48094	0	0.296712	0.05252	1	0.64067	0.45733	0	0.56214	0.19341	0	.	.	5.33	3.53	0.39533	1.410000	0.34299	.	.	-0.104000	0.15758	1.000000	0.71638	1.000000	0.68203	0.910000	0.44547	0.1652:0.0:0.8348:0.0	11.258	0.48297	133	0.94666	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.07143	167.49	37	chr5	140346004	.	G	A	167.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.955;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.2;ReadPosRankSum=-0.638;SOR=0.446	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1309	6	0	1	0
chr5	140823355	140823355	T	C	exonic	PCDHA5	.	nonsynonymous SNV	PCDHA5:NM_018908:exon1:c.T1580C:p.V527A,PCDHA5:NM_031501:exon1:c.T1580C:p.V527A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.0239271250674	.	.	.	.	.	.	.	.	.	.	.	.	.	rs951193537	1.37e-06	1.368e-06	1.363e-06	1.377e-06	1.16e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.659e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.028	0.23930	B	0.016	0.24394	B	.	.	.	.	1	0.81001	D	0.755	0.19153	N	0.72	0.50976	T	-2.03	0.46673	N	0.06	0.09490	-0.9615	0.38897	T	0.105	0.38390	T	9	0.10566044	0.19541	T	0.023927	0.46909	T	0.114	0.32008	0.486	0.56939	0.579236789951	0.57594	0.4495510684078065	0.44873	0.403073445309	0.41255	.	.	.	0.01021	0.09237	T	-0.202503	0.20443	T	-0.528658	0.19421	T	0.225051117730841	0.21713	T	0.225177	0.02943	T	0.28469548	0.51495	0.42910224	0.66603	0.28469548	0.51495	0.42910224	0.66603	-7.594	0.58785	D	.	.	0.159	0.38764	B	.;.;.	.;.;.	2.803451	0.36886	20.4	0.96905333639864899	0.31554	0.48542	0.28231	N	AEFDBI	0.265387	0.38253	N	-0.554792138457409	0.20333	1.071142	-0.50307683271821	0.22070	1.196899	0.0697484896517192	0.15500	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	3.86	3.86	0.43689	1.006000	0.29449	.	.	0.605000	0.46263	0.001000	0.13787	0.014000	0.20376	0.185000	0.21450	0.0:0.0:0.0:1.0	13.004	0.58097	28	0.98252	.;.;Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	6643.24	43	chr5	140823355	.	T	C	6643.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.597;DP=833;ExcessHet=0.3476;FS=0.523;MLEAC=2;MLEAF=0.143;MQ=59.92;MQRankSum=0.341;QD=11.8;ReadPosRankSum=-0.048;SOR=0.642	GT:AD:DP:GQ:PL	0/0:79,0:79:99:0,120,1800	5	0	2	0
chr5	140876137	140876137	-	A	exonic	PCDHA12	.	frameshift insertion	PCDHA12:NM_018903:exon1:c.666dupA:p.T223Nfs*15,PCDHA12:NM_031864:exon1:c.666dupA:p.T223Nfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.318e-05	0	0.0002	0	0	3.002e-05	0	0	2.59e-05	4	154602	rs781824852	1.3e-05	1.3e-05	1.361e-05	1.238e-05	0.0005	8.31e-06	6.7e-06	0.0001	7.541e-05	0	0.0001	0.0002	0	0	0.0005	2.698e-06	1.656e-05	2.319e-05	1.314e-05	1.313e-05	2.569e-05	0	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1940.4	36	chr5	140876137	.	T	TA	1940.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.038;DP=320;ExcessHet=0;FS=2.298;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=-0.904;SOR=0.957	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	6	0	1	0
chr5	140877285	140877285	G	T	exonic	PCDHA12	.	nonsynonymous SNV	PCDHA12:NM_018903:exon1:c.G1813T:p.A605S,PCDHA12:NM_031864:exon1:c.G1813T:p.A605S	.	417	1073	31	1	0	33	0.0151446	.	.	.	2825288	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.276	0.0197981711577	0.0036	0.00279553	0.0040	0.0006	0.0010	0.0001	0.0020	0.0054	0.0033	0.0055	0.0041073	635	154602	rs76220347	0.0047	0.0047	0.0045	0.0049	0.0073	0.0046	0.0046	0.0056	0.0049	0.0007	0.0018	0.0087	2.519e-05	0.0016	0.0073	0.0051	0.0043	0.0054	0.0036	0.0036	0.0038	0.0034	0.0057	0.0033	0.0032	0.0052	0.0051	0.0006	0	0.0035	0.0086	0	0.0019	0.0034	0.0057	0.0033	0.0041	0.028	0.46129	D	0.052	0.47581	T	1.0	0.90584	D	0.954	0.78396	D	.	.	.	.	1	0.81001	D	1.64	0.41913	L	1.18	0.37746	T	-2.72	0.57920	D	0.213	0.25989	-0.7210	0.59414	T	0.168	0.50794	T	9	0.012135804	0.00262	T	0.019798	0.42253	T	0.276	0.59253	.	.	0.734974895143	0.73260	0.2244262043726725	0.22357	.	.	0.780401825905	0.78988	T	0.077468	0.35662	T	-0.437357	0.01340	T	-0.39909	0.33490	T	0.0216165376161506	0.00866	T	0.855914	0.55285	D	0.23279963	0.46074	0.28168145	0.54151	0.23279963	0.46074	0.28168145	0.54150	-9.022	0.69146	D	.	.	0.160	0.35310	B	.;.	.;.	3.454221	0.48119	22.6	0.99504588519091897	0.68264	0.97990	0.78686	D	AEFDBI	0.708097	0.66262	D	0.558929894263973	0.70627	5.529476	0.493415732069027	0.67551	5.099412	0.999999998772093	0.74766	0.475244	0.09938	2	0.588015	0.36545	0	0.641878	0.46077	1	0.562822	0.20929	0	.	.	4.71	4.71	0.59010	3.147000	0.50335	.	.	0.590000	0.31872	0.998000	0.41325	0.003000	0.18671	0.787000	0.37188	0.0:0.0:1.0:0.0	17.27	0.86984	67	0.97183	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.000000	0.010870	0.002924	0.000000	0.000000	0.015244	0.018939	0.07143	2265.44	44	chr5	140877285	.	G	T	2265.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.28;DP=387;ExcessHet=0;FS=1.917;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=0.333;SOR=0.872	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	6	0	1	0
chr5	140927687	140927687	-	G	exonic	PCDHAC1	.	frameshift insertion	PCDHAC1:NM_018898:exon1:c.796dupG:p.E267Gfs*23,PCDHAC1:NM_031882:exon1:c.796dupG:p.E267Gfs*23	.	432	1076	13	1	0	15	0.00692201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0004	9.614e-05	0.0007	0	0	0.0006	0.0011	0	0.0003946	61	154602	rs536640692	0.0003	0.0003	0.0003	0.0003	0.0114	0.0003	0.0003	0.0092	0.0084	0.0004	0.0006	0.0002	0	0	0.0114	0.0003	0.0005	9.275e-05	0.0004	0.0004	0.0002	0.0006	0.0008	0.0003	0.0003	0.0005	0.0004	2.405e-05	0	0.0008	0	0	0	0.0102	0.0006	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008560	0.005051	0.009511	0.020468	0.000000	0.008621	0.003049	0.000000	0.07143	1166.79	40	chr5	140927687	.	T	TG	1166.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.897;DP=325;ExcessHet=0;FS=2.321;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=-0.123;SOR=0.825	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1124	6	0	1	0
chr5	140968970	140968970	C	G	exonic	PCDHAC2	.	nonsynonymous SNV	PCDHAC2:NM_018899:exon1:c.C2204G:p.T735S,PCDHAC2:NM_031883:exon1:c.C2204G:p.T735S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.00231886657829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.813	0.03013	T	1.0	0.02535	T	0.005	0.12996	B	0.002	0.18489	B	0.000582	0.43095	D	0.000000	1	0.81001	D	-1.32	0.00691	N	0.88	0.46028	T	0.1	0.05810	N	0.098	0.12913	-1.0373	0.18140	T	0.039	0.16634	T	10	0.04493642	0.03507	T	0.002319	0.04479	T	0.085	0.24743	0.476	0.55342	0.134007934775	0.12933	0.4490506290154099	0.44823	0.115080692193	0.12980	.	.	.	0.051526	0.28904	T	-0.280705	0.10593	T	-0.64099	0.09596	T	0.0864245086318171	0.10788	T	0.565643	0.19997	T	0.061925393	0.12878	0.073422834	0.15953	0.061925393	0.12878	0.073422834	0.15953	-1.52	0.01982	T	.	.	0.069	0.05800	B	.;.	.;.	1.817237	0.23093	15.88	0.78107644073375893	0.12158	0.85737	0.44903	D	AEFBCI	0.324050	0.42606	N	-0.372024738486424	0.26470	1.444898	-0.0813978731327023	0.36160	2.100817	0.966621933477764	0.28918	0.625279	0.40028	0	0.573888	0.26702	0	0.687403	0.62504	0	0.586402	0.36253	0	.	.	5.66	5.66	0.87293	1.532000	0.35634	.	.	0.599000	0.40250	0.863000	0.30666	1.000000	0.68203	0.994000	0.71098	0.1282:0.6283:0.2435:0.0	10.199	0.42249	54	0.97570	Cadherin, cytoplasmic C-terminal domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	577.49	34	chr5	140968970	.	C	G	577.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.165;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-2.925;SOR=0.833	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1292	6	0	1	0
chr5	141101203	141101203	G	T	exonic	PCDHB3	.	nonsynonymous SNV	PCDHB3:NM_018937:exon1:c.G554T:p.R185L	.	438	1073	11	0	0	11	0.00509968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.01566026048	.	0.00119808	0.0008	0	0	0	0	0.0001	0.0011	0.0050	0.0006662	103	154602	rs566780663	0.0003	0.0003	0.0002	0.0005	0.0049	0.0003	0.0003	0.0045	0.0043	0	4.472e-05	3.826e-05	2.519e-05	0	0.0007	4.676e-05	0.0004	0.0049	0.0002	0.0002	8.993e-05	0.0002	0.0037	0.0001	9.232e-05	0.0024	0.0020	4.811e-05	0	0	0	0	0	0.0034	4.41e-05	0	0.0037	0.052	0.39097	T	0.178	0.29639	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.21	0.18414	T	-4.03	0.74348	D	0.23	0.25867	-1.0954	0.04695	T	0.087	0.33718	T	9	0.0036622584	0.00067	T	0.01566	0.36515	T	0.143	0.38195	0.342	0.33464	0.311387274539	0.30754	0.36148683159977585	0.36062	.	.	0.331932902336	0.15226	T	.	.	.	-0.452027	0.01099	T	-0.421129	0.30947	T	0.119154054954035	0.14347	T	0.113889	0.00867	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.36053	B	.	.	1.251178	0.16477	12.57	0.99685732750895262	0.79574	0.24557	0.22430	N	AEFDBI	0.254400	0.37372	N	0.0757049902102985	0.45331	2.791434	-0.0406980266450233	0.37896	2.225093	0.177518238001022	0.17825	0.729952	0.87565	0	0.573888	0.26702	0	0.877121	0.99996	0	0.564101	0.26826	0	.	.	5.08	4.2	0.48814	0.449000	0.21459	.	.	0.575000	0.29119	0.000000	0.06391	0.000000	0.08366	0.946000	0.48989	0.1413:0.0:0.8587:0.0	11.816	0.51487	484	0.77165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.002924	0.000000	0.008621	0.006098	0.007576	0.07143	2873.63	101	chr5	141101203	.	G	T	2873.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.861;DP=616;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-0.351;SOR=0.727	GT:AD:DP:GQ:PL	0/1:109,113:222:99:2884,0,2700	6	0	1	0
chr5	141173766	141173766	G	C	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G931C:p.A311P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0073481168098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	1.163e-05	0	1.376e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.29823	T	0.088	0.40586	T	0.758	0.43456	P	0.516	0.48072	P	.	.	.	.	1	0.08975	N	1.905	0.50856	L	4.57	0.01917	T	-1.9	0.44284	N	0.19	0.20793	-0.9688	0.37448	T	0.012	0.04463	T	9	0.14442283	0.27407	T	0.007348	0.19496	T	0.054	0.15330	0.24	0.17218	0.297718772494	0.29385	0.23022774839758178	0.22937	0.259062600134	0.28458	0.285979688168	0.08340	T	0.007225	0.06645	T	-0.192082	0.21952	T	-0.513689	0.20937	T	0.239479869604111	0.22395	T	0.0113989	0.00062	T	0.14268309	0.32824	0.21860704	0.46570	0.14268309	0.32824	0.21860704	0.46569	-8.191	0.62365	D	.	.	0.557	0.67107	A	.	.	1.047924	0.14288	10.87	0.99254472283569606	0.56989	0.18010	0.20081	N	AEFDBI	0.376982	0.46093	N	-0.355294400045894	0.27079	1.482807	-0.435194067126652	0.23971	1.310156	0.0246842635642356	0.13596	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	2.79	0.31792	-0.037000	0.12116	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.2524:0.0:0.5847:0.1629	4.291	0.10325	652	0.62785	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	338.9	99	chr5	141173766	.	G	C	338.9	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-3.271;DP=875;ExcessHet=1.1394;FS=200.776;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.71;ReadPosRankSum=1.42;SOR=10.125	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:151,30:201:99:.:.:226,0,2753:.	2	0	3	2
chr5	141201807	141201807	C	A	exonic	PCDHB11	.	nonsynonymous SNV	PCDHB11:NM_018931:exon1:c.C2033A:p.P678Q	.	168	1321	32	1	0	34	0.0127055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	0.0027	0.00399361	0.0039	0.0004	0.0004	0.0001	0.0027	0.0040	0.0067	0.0097	0.0035381	547	154602	rs141800205	0.0040	0.0039	0.0036	0.0043	0.0102	0.0039	0.0038	0.0096	0.0094	0.0003	0.0016	0.0069	0	0.0020	0.0085	0.0038	0.0036	0.0102	0.0033	0.0033	0.0031	0.0036	0.0087	0.0031	0.0030	0.0066	0.0059	0.0005	0	0.0039	0.0078	0	0.0024	0.0102	0.0047	0.0014	0.0087	0.201	0.20306	T	0.207	0.35840	T	0.013	0.16609	B	0.02	0.19048	B	.	.	.	.	1	0.08975	N	1.02	0.25474	L	0.8	0.48769	T	-3.23	0.65056	D	0.087	0.11769	-0.9282	0.44400	T	0.088	0.34078	T	9	0.0062874258	0.00142	T	.	.	.	0.056	0.15993	.	.	0.424430313326	0.42057	0.21207624426873645	0.21123	0.218745738451	0.24414	0.432624101639	0.29567	T	0.027678	0.20215	T	-0.618637	0.00112	T	-0.652011	0.08814	T	0.00542685166688873	0.00059	T	0.467153	0.14032	T	0.035338838	0.04141	0.072137386	0.15528	0.035338838	0.04141	0.072137386	0.15528	-9.301	0.70254	D	.	.	0.078	0.08368	B	.;.	.;.	1.146609	0.15341	11.78	0.54837505654297913	0.05218	0.01440	0.04836	N	AEFDI	0.031168	0.03277	N	-1.00260200278716	0.08550	0.401287	-1.15715369112361	0.06640	0.3203102	0.00276586595352238	0.09691	0.490419	0.18000	1	0.573888	0.26702	0	0.667716	0.60424	0	0.613276	0.41899	0	.	.	2.77	-2.14	0.06725	-1.779000	0.01874	.	.	0.299000	0.18918	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.4176:0.2069:0.1464:0.229	0.535	0.00593	662	0.61715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005495	0.000000	0.004076	0.004202	0.000000	0.000000	0.013072	0.007937	0.07143	829.53	43	chr5	141201807	.	C	A	829.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.213;DP=464;ExcessHet=0;FS=5.223;MLEAC=1;MLEAF=0.071;MQ=59.77;MQRankSum=-0.968;QD=13.38;ReadPosRankSum=-0.789;SOR=1.514	GT:AD:DP:GQ:PL	0/0:124,0:124:99:0,120,1800	6	0	1	0
chr5	141225285	141225285	G	A	exonic	PCDHB14	.	nonsynonymous SNV	PCDHB14:NM_018934:exon1:c.G1780A:p.G594S	.	31	1345	146	0	0	146	0.051481	.	.	.	2333946	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.070	0.00812370171638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0011	0.0002	0.0004	0.0010	0.0003	0.0003	0.0003	0.0003	6.028e-05	4.557e-05	0.0001	0.0003	0.0006	0.0010	0.0003	0.0003	0.0002	2.633e-05	0.0001	3.859e-05	1.348e-05	4.421e-05	8.15e-06	5.15e-06	1.174e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.421e-05	0	0	0.129	0.26852	T	0.231	0.37310	T	0.126	0.26920	B	0.037	0.23121	B	.	.	.	.	1	0.08975	N	0.515	0.13537	N	0.82	0.48142	T	-3.18	0.64478	D	0.034	0.13769	-1.0398	0.17374	T	0.069	0.28147	T	9	0.19781601	0.35727	T	0.008124	0.21521	T	0.070	0.20419	.	.	0.565131857978	0.56177	0.36686842792872654	0.36600	0.245885684845	0.27115	0.580103754997	0.50101	T	0.009182	0.08373	T	-0.211783	0.19127	T	-0.541988	0.18101	T	0.156878933310509	0.17638	T	0.690631	0.30012	T	0.08944512	0.20898	0.1374503	0.32854	0.08944512	0.20898	0.1374503	0.32853	-9.129	0.68523	D	.	.	0.094	0.14523	B	.;.	.;.	2.012059	0.25564	16.81	0.98644404939967945	0.44096	0.16045	0.19205	N	AEFI	0.149542	0.27365	N	-0.635078871570523	0.17897	0.9248997	-0.577513812790395	0.20079	1.080253	5.80256062791124E-5	0.04171	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	4.03	1.07	0.19399	2.189000	0.42253	.	.	0.565000	0.28586	0.032000	0.20554	0.000000	0.08366	0.950000	0.49671	0.183:0.1562:0.6608:0.0	6.374	0.20703	688	0.59122	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	76.23	28	chr5	141225285	.	G	A	76.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.3;DP=225;ExcessHet=0;FS=1.348;MLEAC=1;MLEAF=0.083;MQ=34.62;MQRankSum=-0.831;QD=1.17;ReadPosRankSum=-0.027;SOR=0.948	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1239	5	0	1	1
chr5	141302968	141302968	C	T	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G898A:p.A300T	.	78	1437	7	0	0	7	0.00242971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	.	0.00119808	0.0014	0	0.0003	0.0001	0	0.0001	0.0023	0.0117	0.0011837	183	154602	rs562162894	0.0007	0.0007	0.0003	0.0010	0.0090	0.0006	0.0006	0.0085	0.0083	2.99e-05	0.0002	0	2.519e-05	0	0.0044	9.814e-05	0.0006	0.0090	0.0004	0.0004	0.0002	0.0006	0.0095	0.0003	0.0003	0.0073	0.0066	0	0	0	0	0	0	0	0.0001	0	0.0095	0.096	0.31088	T	0.255	0.23365	T	0.009	0.15093	B	0.004	0.10090	B	0.983261	0.08079	U	0.990323	0.998527	0.22098	N	1.1	0.28011	L	-1.28	0.79376	T	-0.34	0.12661	N	0.063	0.03502	-0.8825	0.49561	T	0.273	0.64422	T	10	0.0041900277	0.00083	T	.	.	.	0.095	0.27398	0.292	0.25400	0.580153967196	0.57686	0.30213670269049936	0.30126	0.177704553692	0.19995	0.336140066385	0.15860	T	0.151168	0.49098	T	-0.437778	0.01333	T	-0.394933	0.33976	T	0.00890504629330068	0.00111	T	0.227477	0.03026	T	0.049138263	0.08677	0.07460501	0.16339	0.049138263	0.08676	0.07460501	0.16339	-3.459	0.15863	T	.	.	0.068	0.02927	B	.	.	2.493592	0.32177	18.96	0.95469865600468728	0.27016	0.19991	0.20873	N	AEFBI	0.085637	0.17362	N	-0.799127435041364	0.13333	0.6560655	-0.764685468846174	0.15362	0.8075529	0.0041845926403666	0.10449	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	3.79	1.93	0.24985	-0.237000	0.09007	.	.	0.596000	0.33519	0.051000	0.21449	0.519000	0.25298	0.763000	0.36255	0.0:0.7184:0.1784:0.1032	6.977	0.23859	511	0.75131	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.015152	0.07143	91.44	33	chr5	141302968	.	C	T	91.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.847;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=-0.02;SOR=1.179	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1360	6	0	1	0
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	2953.65	85	chr5	141303079	.	C	G	2953.65	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-5.028;DP=946;ExcessHet=6.1542;FS=234.538;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.09;ReadPosRankSum=1.62;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,42:180:99:0|1:141303079_C_G:507,0,4591:141303079	1	0	4	2
chr5	141303079	141303079	C	T	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787A:p.V263I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0182275345159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.07944	T	0.363	0.16815	T	0.021	0.18474	B	0.039	0.23607	B	0.940851	0.07593	N	1.028430	0.999997	0.08975	N	0.5	0.13406	N	-1.23	0.78860	T	0.06	0.06253	N	0.045	0.01740	-0.9283	0.44386	T	0.215	0.57626	T	10	0.071314245	0.10496	T	0.018228	0.40224	T	0.147	0.38986	0.339	0.32979	0.359557344763	0.35564	0.08275398820863436	0.08210	0.147289003395	0.16616	0.28638151288	0.08398	T	0.161028	0.50511	T	-0.18769	0.22597	T	-0.50738	0.21586	T	0.0446509129349204	0.04539	T	0.0730927	0.00533	T	0.038403146	0.05108	0.028814076	0.01154	0.038403146	0.05108	0.028814076	0.01154	-4.133	0.25775	T	.	.	0.080	0.07745	B	.	.	1.381003	0.17922	13.45	0.53492033685486196	0.04950	0.27226	0.23218	N	AEFDBI	0.033857	0.04094	N	-0.96113578187942	0.09444	0.4469869	-0.958533915171557	0.10726	0.542049	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	2953.65	85	chr5	141303079	.	C	T	2953.65	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-5.028;DP=946;ExcessHet=6.1542;FS=234.538;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=4.09;ReadPosRankSum=1.62;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:138,0:180:99:0|1:141303079_C_G:507,919,5632:141303079	4	0	1	2
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0473896448522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.057e-05	0.0052	9.083e-05	7.061e-05	9.408e-05	6.666e-05	6.17e-05	7.637e-05	7.056e-05	7.663e-05	2.352e-05	9.167e-05	0	0	0	9.408e-05	0.0001	3.753e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.031	0.20130	B	0.072	0.28043	B	0.002026	0.37411	N	0.228449	0.664955	0.33087	D	2.495	0.72670	M	-1.43	0.80730	T	-3.37	0.66665	D	0.15	0.15328	-0.2969	0.75071	T	0.436	0.77580	T	10	0.32646608	0.49943	T	0.04739	0.62897	D	0.304	0.62510	0.714	0.84962	0.796736975761	0.79484	0.3777484127299112	0.37689	0.256540601776	0.28227	0.559880197048	0.47250	T	0.479583	0.80893	T	-0.0449841	0.45207	T	-0.302393	0.44473	T	0.91609662771225	0.57338	D	0.873613	0.58243	D	0.3416271	0.56408	0.3380717	0.59590	0.3416271	0.56408	0.3380717	0.59589	-5.782	0.44417	T	.	.	0.170	0.37388	B	.	.	3.362138	0.46425	22.3	0.97252123840185223	0.33047	0.90378	0.51506	D	AEFDBI	0.134760	0.25488	N	-0.253584900046592	0.30961	1.73137	-0.254588989580657	0.29613	1.660522	0.0034441891907943	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.42	0.21524	2.856000	0.48040	.	.	0.751000	0.87719	0.966000	0.33990	0.265000	0.24010	0.967000	0.53440	0.789:0.0:0.211:0.0	6.656	0.22177	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	4033.26	85	chr5	141303081	.	A	G	4033.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.252;DP=994;ExcessHet=11.5949;FS=239.513;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.32;ReadPosRankSum=1.4;SOR=9.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,42:180:99:0|1:141303079_C_G:507,0,4591:141303079	0	0	6	1
chr5	141361949	141361949	C	A	exonic	PCDHGB2	.	nonsynonymous SNV	PCDHGB2:NM_018923:exon1:c.C1814A:p.S605Y,PCDHGB2:NM_032096:exon1:c.C1814A:p.S605Y	.	40	1417	59	6	0	71	0.0244406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.453	.	0.0007	0.0111821	0.0094	0.0008	0.0010	0	0	0.0024	0.0099	0.0485	0.0035731	93	26028	rs202129585	0.0039	0.0039	0.0025	0.0053	0.0453	0.0038	0.0038	0.0442	0.0437	0.0003	0.0008	0.0043	0.0001	0.0002	0.0201	0.0011	0.0049	0.0453	0.0026	0.0026	0.0018	0.0034	0.0445	0.0024	0.0023	0.0396	0.0378	0.0002	0	0.0015	0.0040	0.0004	9.422e-05	0.0238	0.0016	0.0038	0.0445	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.992	0.92359	D	.	.	.	.	1	0.81001	D	3.76	0.95097	H	0.61	0.53516	T	-5.11	0.83092	D	0.667	0.68169	-0.6087	0.64458	T	0.348	0.71289	T	9	0.012059331	0.00261	T	.	.	.	0.453	0.75279	.	.	0.761273591808	0.75910	0.5139250221706769	0.51314	.	.	.	.	.	0.064256	0.32388	T	-0.245092	0.14705	T	-0.0905257	0.64122	T	0.0981431249967783	0.12151	T	0.937306	0.81867	D	0.7034151	0.78244	0.70926154	0.82853	0.7034151	0.78245	0.70926154	0.82854	-14.381	0.95005	D	.	.	0.392	0.59148	A	.;.	.;.	4.209486	0.63584	24.6	0.99200775043280909	0.55261	0.98332	0.81714	D	AEFBI	0.752301	0.69284	D	0.605565791628079	0.73526	5.980558	0.510155191627467	0.68672	5.252489	0.965311217015781	0.28822	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.616125	0.45549	0	.	.	4.81	3.94	0.44807	3.899000	0.56000	.	.	0.544000	0.25403	0.990000	0.36992	0.999000	0.35428	0.998000	0.85391	0.0:0.9194:0.0:0.0806	12.961	0.57857	648	0.63242	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017553	0.005102	0.004076	0.024793	0.050000	0.008772	0.018519	0.045455	0.1429	4130.32	36	chr5	141361949	.	C	A	4130.32	.	AC=2;AF=0.143;AN=14;DP=290;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=37.09;QD=30.09;SOR=1.129	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1370	6	1	0	0
chr5	141370804	141370804	T	C	exonic	PCDHGB3	.	nonsynonymous SNV	PCDHGB3:NM_018924:exon1:c.T410C:p.I137T,PCDHGB3:NM_032097:exon1:c.T410C:p.I137T	.	432	1089	1	0	0	1	0.000458926	.	.	.	2366227	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	0.00765361494679	.	.	0.0002	0	8.639e-05	0	0	7.495e-05	0	0.0008	0.0001294	20	154602	rs565720476	0.0001	0.0001	0.0001	0.0002	0.0028	0.0001	0.0001	0.0017	0.0014	0	2.236e-05	3.826e-05	0	0	0.0028	7.825e-05	0.0002	0.0010	9.848e-05	9.843e-05	0.0001	9.398e-05	0.0010	6.002e-05	4.876e-05	0.0004	0.0003	2.405e-05	0	0	0	0.0002	0	0.0068	5.881e-05	0.0009	0.0010	.	.	.	0.176	0.29843	T	0.006	0.13644	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-0.375	0.03072	N	2.14	0.19450	T	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	0.016734302	0.00354	T	0.007654	0.20299	T	.	.	.	.	0.732716374277	0.73033	0.03766416484611296	0.03712	0.303403482405	0.32658	.	.	.	5.26E-4	0.00201	T	-0.636325	0.00088	T	-0.784221	0.02328	T	.	.	.	0.127787	0.01001	T	0.15808389	0.35584	0.1322978	0.31750	0.15808389	0.35584	0.1322978	0.31749	-3.532	0.18306	T	.	.	0.091	0.12891	B	.;.	.;.	0.018495	0.04412	1.150	0.84131079349191706	0.15114	0.11774	0.16853	N	AEFBI	0.155876	0.28114	N	.	.	.	.	.	.	0.930867298815077	0.27025	0.455138	0.09556	0	0.541556	0.11502	0	0.576033	0.28219	0	0.56751	0.32155	0	.	.	5.05	-0.217	0.12502	-0.318000	0.08091	.	.	-0.121000	0.13915	0.000000	0.06391	0.000000	0.08366	0.286000	0.24163	0.1601:0.3816:0.165:0.2932	1.605	0.02520	650	0.62973	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1499.44	35	chr5	141370804	.	T	C	1499.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.681;DP=321;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=0.502;SOR=0.676	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1148	6	0	1	0
chr5	141376131	141376131	A	T	exonic	PCDHGA6	.	nonsynonymous SNV	PCDHGA6:NM_018919:exon1:c.A2048T:p.K683I,PCDHGA6:NM_032086:exon1:c.A2048T:p.K683I	.	10	1490	21	1	0	23	0.00765901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00832386618182	0.0005	0.000798722	0.0011	0	0.0002	0.0001	0	0.0010	0.0077	0.0036	0.0002305	6	26028	rs200974904	0.0007	0.0007	0.0005	0.0009	0.0043	0.0007	0.0006	0.0040	0.0038	5.974e-05	0.0003	0.0038	0	3.746e-05	0.0042	0.0004	0.0008	0.0043	0.0006	0.0006	0.0006	0.0006	0.0042	0.0005	0.0005	0.0028	0.0023	0.0002	0	0.0002	0.0037	0	0.0002	0	0.0007	0.0014	0.0042	0.026	0.46910	D	0.057	0.48855	T	0.001	0.07471	B	0.002	0.08700	B	0.011042	0.01294	U	124.094000	1	0.08975	N	1.7	0.43825	L	0.85	0.47130	T	-2.17	0.49018	N	0.154	0.15888	-0.9923	0.32012	T	0.099	0.36856	T	10	0.0049674213	0.00106	T	0.008324	0.22029	T	0.076	0.22200	.	.	0.403469152278	0.39964	0.40605075292717796	0.40521	0.497233381256	0.48218	.	.	.	0.024001	0.18216	T	-0.573334	0.00211	T	-0.596851	0.13078	T	0.0241655156286951	0.01165	T	0.00369963	0.00011	T	0.09958714	0.23503	0.07163517	0.15362	0.09958714	0.23503	0.07163517	0.15362	-4.78	0.34357	T	.	.	0.094	0.22171	B	.;.	.;.	1.317506	0.17209	13.03	0.90095604993644596	0.19378	0.31179	0.24272	N	AEFBI	0.205207	0.33158	N	-1.2587614243323	0.04185	0.1884187	-1.3332897931725	0.04006	0.1881079	0.0774375007757012	0.15759	0.549168	0.22868	0	0.588015	0.36545	0	0.576033	0.28219	0	0.616125	0.45549	0	.	.	5.55	-4.13	0.03639	-0.521000	0.06331	.	.	-0.709000	0.03961	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5156:0.1226:0.2037:0.1581	2.247	0.03787	651	0.62880	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004757	0.000000	0.001359	0.012295	0.000000	0.000000	0.006098	0.011364	0.07143	122.44	45	chr5	141376131	.	A	T	122.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.11;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=50.91;MQRankSum=-0.016;QD=10.2;ReadPosRankSum=-0.393;SOR=0.883	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,999	6	0	1	0
chr5	141376362	141376362	C	G	exonic	PCDHGA6	.	nonsynonymous SNV	PCDHGA6:NM_018919:exon1:c.C2279G:p.T760S,PCDHGA6:NM_032086:exon1:c.C2279G:p.T760S	.	8	1500	14	0	0	14	0.00464499	.	.	.	3185230	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.190	0.0100081266458	0.0042	0.00199681	0.0039	0.0013	0.0026	0	0.0020	0.0055	0.0011	0.0031	0.0040879	632	154602	rs186469397	0.0053	0.0053	0.0054	0.0051	0.0061	0.0052	0.0051	0.0060	0.0060	0.0009	0.0018	0.0034	0	0.0018	0.0042	0.0061	0.0048	0.0030	0.0033	0.0033	0.0032	0.0034	0.0053	0.0031	0.0030	0.0049	0.0047	0.0014	0.0033	0.0016	0.0020	0	0.0022	0	0.0053	0.0028	0.0035	0.153	0.24372	T	0.228	0.25286	T	0.998	0.77913	D	0.96	0.75477	D	0.006985	0.31670	U	0.000000	1	0.81001	D	2.24	0.63355	M	0.75	0.50192	T	-3.74	0.71042	D	0.237	0.26717	-0.7674	0.57000	T	0.209	0.56893	T	10	0.006436944	0.00146	T	0.010008	0.26035	T	0.190	0.46781	0.469	0.54214	0.810730532197	0.80895	0.35823071181403	0.35737	0.460522582035	0.45608	.	.	.	0.085015	0.37407	T	-0.393056	0.02570	T	-0.330693	0.41393	T	0.0348216406331886	0.02778	T	0.80432	0.45191	T	0.22635399	0.45315	0.2510904	0.50714	0.22635399	0.45315	0.2510904	0.50713	-7.438	0.58422	T	.	.	0.192	0.50600	B	.;.	.;.	3.555406	0.49998	22.9	0.99105376653438526	0.52572	0.93115	0.57366	D	AEFDBI	0.294622	0.40494	N	0.387904750710311	0.60767	4.269209	0.297621711326072	0.55399	3.703103	0.994884489907657	0.33846	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.616125	0.45549	0	.	.	5.15	4.27	0.50009	4.718000	0.61621	.	.	0.596000	0.33519	1.000000	0.71638	0.999000	0.35428	0.194000	0.21720	0.0:0.8639:0.136:0.0	15.861	0.78797	651	0.62880	Cadherin, cytoplasmic C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.002717	0.000000	0.000000	0.000000	0.009146	0.003788	0.07143	2937.44	45	chr5	141376362	.	C	G	2937.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.35;DP=458;ExcessHet=0;FS=1.488;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=0.389;SOR=0.6	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,999	6	0	1	0
chr5	141389722	141389722	G	C	exonic	PCDHGB4	.	nonsynonymous SNV	PCDHGB4:NM_003736:exon1:c.G1838C:p.G613A,PCDHGB4:NM_032098:exon1:c.G1838C:p.G613A	.	196	1282	41	3	0	47	0.0180008	.	.	.	2825345	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.280	.	0.0072	0.00399361	0.0081	0.0020	0.0078	0	0.0103	0.0093	0.0101	0.0101	0.0078395	1212	154602	rs141134077	0.0097	0.0097	0.0095	0.0099	0.0282	0.0096	0.0095	0.0246	0.0232	0.0019	0.0078	0.0094	2.519e-05	0.0099	0.0282	0.0103	0.0090	0.0099	0.0079	0.0079	0.0080	0.0077	0.0120	0.0075	0.0073	0.0106	0.0101	0.0020	0	0.0120	0.0069	0	0.0122	0.0204	0.0105	0.0061	0.0079	0.134	0.26300	T	0.129	0.34837	T	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	2.075	0.57047	M	0.6	0.53731	T	-4.97	0.82063	D	0.076	0.17828	-0.7849	0.56025	T	0.234	0.60087	T	9	0.009389728	0.00212	T	.	.	.	0.280	0.59740	.	.	0.698464051262	0.69585	0.35404861389993686	0.35318	.	.	.	.	.	0.181704	0.53346	T	-0.349946	0.04730	T	-0.261824	0.48642	T	0.0558360295277478	0.06496	T	0.914509	0.69499	D	0.36165914	0.57963	0.4088886	0.65193	0.36165914	0.57963	0.4088886	0.65193	-7.983	0.62439	D	.	.	0.157	0.34645	B	.;.	.;.	3.812229	0.54996	23.6	0.99596222077700636	0.73925	0.13787	0.18052	N	AEFBI	0.164576	0.29098	N	0.351618076349019	0.58824	4.057204	0.281579482210236	0.54466	3.611339	0.967080787852265	0.28951	0.625279	0.40028	0	0.588066	0.40923	0	0.667671	0.60360	0	0.59522	0.37078	0	.	.	5.05	5.05	0.67566	0.287000	0.18678	.	.	0.504000	0.22967	0.001000	0.13787	1.000000	0.68203	0.991000	0.66497	0.0:0.2654:0.7346:0.0	13.932	0.63510	759	0.50631	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.029738	0.015152	0.019022	0.052632	0.150000	0.034483	0.018405	0.018939	0.07143	1450.44	137	chr5	141389722	.	G	C	1450.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.559;DP=342;ExcessHet=0;FS=4.114;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.37;SOR=1.039	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr5	141395182	141395182	C	T	exonic	PCDHGA8	.	nonsynonymous SNV	PCDHGA8:NM_014004:exon1:c.C2369T:p.S790F,PCDHGA8:NM_032088:exon1:c.C2369T:p.S790F	.	191	1319	12	0	0	12	0.0045283	.	.	.	3575415	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.140	0.00890473528546	.	0.000199681	0.0001	0	0	0	0	9.011e-05	0.0011	0.0007	0.0001423	22	154602	rs143509166	8.756e-05	8.756e-05	8.712e-05	8.801e-05	0.0017	7.488e-05	7.035e-05	0.0009	0.0007	5.974e-05	0	0	0	1.872e-05	0.0017	5.036e-05	0.0003	0.0005	8.535e-05	8.53e-05	6.424e-05	0.0001	0.0002	4.953e-05	3.96e-05	9.048e-05	7.012e-05	0	0	0	0	0	9.429e-05	0.0034	0.0002	0	0	0.234	0.18061	T	0.133	0.35082	T	0.0	0.02946	B	0.005	0.11217	B	.	.	.	.	1	0.81001	D	0.48	0.13178	N	0.81	0.48460	T	-2.05	0.47008	N	0.142	0.36043	-1.0392	0.17556	T	0.072	0.29259	T	9	0.028700948	0.01000	T	0.008905	0.23463	T	0.140	0.37593	.	.	0.495172024023	0.49151	0.11320334284700659	0.11248	.	.	.	.	.	0.035685	0.23816	T	-0.426339	0.01560	T	-0.500751	0.22271	T	0.0482627972960472	0.05191	T	0.255674	0.03967	T	0.10975513	0.25946	0.14769743	0.34942	0.10975513	0.25946	0.14769743	0.34941	-6.306	0.48770	T	.	.	0.094	0.14523	B	.;.	.;.	2.488805	0.32106	18.94	0.76062084114784401	0.11318	0.73992	0.36191	D	AEFBI	0.545006	0.55970	D	-0.717891172023897	0.15519	0.7828081	-0.670170512121005	0.17708	0.9427949	0.998262376644592	0.36664	0.549168	0.22868	0	0.547309	0.14657	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	4.5	3.63	0.40741	0.932000	0.28484	.	.	0.520000	0.23804	0.000000	0.06391	0.061000	0.22037	0.573000	0.30723	0.0:0.9107:0.0:0.0893	11.412	0.49173	804	0.43891	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.008621	0.006098	0.003788	0.1429	4070.65	41	chr5	141395182	.	C	T	4070.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.325;DP=459;ExcessHet=0.3476;FS=0.445;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=2.34;SOR=0.645	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	5	0	2	0
chr5	141399013	141399013	G	A	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.G886A:p.E296K,PCDHGB5:NM_032099:exon1:c.G886A:p.E296K	.	431	1036	50	5	0	60	0.0281426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0089	0.00579073	0.0116	0.0014	0.0042	0	0.0115	0.0137	0.0169	0.0201	0.0105044	1624	154602	rs145783835	0.0097	0.0097	0.0091	0.0103	0.0205	0.0096	0.0095	0.0197	0.0194	0.0011	0.0044	0.0694	7.557e-05	0.0088	0.0175	0.0081	0.0128	0.0205	0.0077	0.0077	0.0075	0.0079	0.0168	0.0073	0.0072	0.0139	0.0128	0.0014	0	0.0067	0.0734	0.0004	0.0084	0.0136	0.0083	0.0076	0.0168	.	.	.	0.139	0.34009	T	0.268	0.31720	B	0.111	0.32014	B	.	.	.	.	0.999841	0.49770	D	1.815	0.47718	L	.	.	.	.	.	.	0.069	0.04188	.	.	.	.	.	.	.	0.0034748316	0.00062	T	.	.	.	.	.	.	.	.	.	0.48512439086238984	0.48432	.	.	.	.	.	0.067878	0.33313	T	-0.321101	0.06807	T	-0.218421	0.52889	T	.	.	.	0.308469	0.05950	T	0.1453064	0.33314	0.41823596	0.65853	0.1453064	0.33314	0.41823596	0.65853	-5.246	0.39406	T	.	.	0.098	0.16187	B	.;.	.;.	2.124138	0.27037	17.33	0.55456761795019083	0.05346	0.10514	0.16000	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.961241225487468	0.28541	0.343041	0.05630	0	0.18701	0.04157	0	0.072005	0.02045	0	0.456374	0.07007	0	0.133118	0.26076	4.89	3.99	0.45527	0.313000	0.19165	.	.	0.653000	0.53440	0.000000	0.06391	0.000000	0.08366	0.959000	0.51448	0.0804:0.1482:0.7714:0.0	9.294	0.36965	809	0.43032	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018127	0.005051	0.019022	0.008772	0.000000	0.000000	0.036585	0.011364	0.07143	1944.45	56	chr5	141399013	.	G	A	1944.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.89;DP=425;ExcessHet=0;FS=1.28;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=0.859;SOR=0.853	GT:AD:DP:GQ:PL	0/1:80,73:153:99:1955,0,2048	6	0	1	0
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.A2336G:p.D779G,PCDHGB5:NM_032099:exon1:c.A2336G:p.D779G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.065e-06	5.274e-05	1.371e-06	2.765e-06	2.718e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.718e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.44302	T	0.009	0.15093	B	0.029	0.21540	B	.	.	.	.	1	0.81001	D	1.51	0.38214	L	.	.	.	.	.	.	0.241	0.34659	.	.	.	.	.	.	.	0.20647642	0.36910	T	.	.	.	.	.	.	.	0.567858160113	0.56450	0.27775437007942005	0.27688	.	.	.	.	.	0.07356	0.34727	T	0.118978	0.66270	D	-0.0668731	0.65849	T	.	.	.	0.475152	0.14192	T	0.18996084	0.40560	0.40470845	0.64891	0.18996084	0.40560	0.40470845	0.64891	-4.16	0.26766	T	.	.	0.089	0.12323	B	.;.	.;.	3.615017	0.51130	23.0	0.70790902653605781	0.09412	0.84947	0.44044	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999600704005591	0.40866	0.090766	0.02384	0	0.097471	0.02872	0	0.129117	0.03641	0	0.023427	0.00073	3	0.343073	0.36021	5.25	5.25	0.73169	2.964000	0.48885	.	.	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.831000	0.39176	0.9146:0.0:0.0854:0.0	9.287	0.36925	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	684.11	39	chr5	141400463	.	A	G	684.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-6.424;DP=1058;ExcessHet=4.7409;FS=235.068;MLEAC=5;MLEAF=0.357;MQ=59.99;MQRankSum=0;QD=0.72;ReadPosRankSum=1.47;SOR=9.773	GT:AD:DP:GQ:PL	0/1:189,90:279:99:298,0,3706	2	0	5	0
chr5	141421774	141421774	C	G	exonic	PCDHGA11	.	nonsynonymous SNV	PCDHGA11:NM_018914:exon1:c.C547G:p.L183V,PCDHGA11:NM_032091:exon1:c.C547G:p.L183V,PCDHGA11:NM_032092:exon1:c.C547G:p.L183V	.	376	1145	1	0	0	1	0.000436491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00288905876437	.	.	1.667e-05	0	0	0	0.0003	0	0	0	1.29e-05	2	154602	rs767599830	1.368e-05	1.368e-05	1.634e-05	1.1e-05	0.0002	8.94e-06	7.26e-06	4.55e-06	3.32e-06	0	0	0	0	0.0001	0.0002	8.994e-06	4.969e-05	0	4.6e-05	4.597e-05	3.854e-05	5.38e-05	2.94e-05	2.109e-05	1.527e-05	4.88e-06	1.83e-06	0	0	0	0	0	0.0005	0	2.94e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.09854	B	0.001	0.06944	B	0.023076	0.26512	N	0.000000	0.976936	0.25344	N	-1.725	0.00339	N	2.09	0.20122	T	2.61	0.00237	N	0.022	0.01274	-0.9353	0.43349	T	0.010	0.03673	T	10	0.014837861	0.00312	T	0.002889	0.06104	T	0.014	0.01968	0.278	0.23164	0.173771789658	0.16945	0.03258396137742624	0.03206	0.38733264475	0.40012	.	.	.	6.24E-4	0.00264	T	-0.42332	0.01629	T	-0.83036	0.01256	T	0.0425918017309211	0.04163	T	0.0574942	0.00511	T	0.028543582	0.02207	0.043120883	0.05293	0.028543582	0.02206	0.043120883	0.05293	-0.299	0.00499	T	.	.	0.056	0.01600	B	.;.;.	.;.;.	-0.481119	0.01929	0.163	0.62949250673038493	0.07095	0.01332	0.04590	N	AEFDBCI	0.050193	0.08750	N	-1.53674306842345	0.01613	0.07053437	-1.3425408546009	0.03894	0.1826039	0.999967051128616	0.48965	0.608746	0.35421	0	0.627608	0.54475	0	0.64067	0.45733	0	0.604282	0.37693	0	.	.	6.03	2.24	0.27264	-0.789000	0.04714	.	.	-0.792000	0.03237	0.000000	0.06391	0.000000	0.08366	0.122000	0.19250	0.1929:0.1075:0.6995:0.0	9.671	0.39177	819	0.41190	.;Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	234.63	35	chr5	141421774	.	C	G	234.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.62;DP=209;ExcessHet=0;FS=8.346;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.7;ReadPosRankSum=-0.213;SOR=1.723	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1107	6	0	1	0
chr5	141422807	141422807	G	A	exonic	PCDHGA11	.	nonsynonymous SNV	PCDHGA11:NM_018914:exon1:c.G1580A:p.R527Q,PCDHGA11:NM_032091:exon1:c.G1580A:p.R527Q,PCDHGA11:NM_032092:exon1:c.G1580A:p.R527Q	.	11	1487	23	1	0	25	0.00833611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0007	0.0061901	0.0038	0.0001	0.0006	0.0001	0	0.0019	0.0055	0.0195	0.0033441	517	154602	rs199507728	0.0020	0.0020	0.0014	0.0026	0.0183	0.0019	0.0019	0.0176	0.0173	0.0002	0.0006	0.0043	0.0002	0.0002	0.0113	0.0009	0.0026	0.0183	0.0015	0.0015	0.0012	0.0018	0.0205	0.0013	0.0013	0.0172	0.0160	9.623e-05	0	0.0008	0.0040	0.0004	9.413e-05	0.0136	0.0013	0.0014	0.0205	0.425	0.10874	T	0.25	0.23707	T	0.304	0.37393	B	0.044	0.31143	B	0.255422	0.15422	N	0.351137	0.999938	0.19363	N	0.645	0.16088	N	0.15	0.60734	T	-1.72	0.45404	N	0.043	0.04426	-1.0683	0.09791	T	0.087	0.33718	T	10	0.0035232902	0.00063	T	.	.	.	0.060	0.17295	.	.	0.570128362464	0.56678	0.0724609524383448	0.07183	0.539253451491	0.51157	.	.	.	0.006777	0.06208	T	-0.588445	0.00171	T	-0.6031	0.12552	T	0.00403512760185142	0.00043	T	0.876412	0.60517	D	0.026217287	0.01651	0.040891923	0.04523	0.026217287	0.01651	0.040891923	0.04522	-5.866	0.47452	T	.	.	0.073	0.05274	B	.;.;.	.;.;.	0.689435	0.10580	7.287	0.92052471578566164	0.21396	0.07131	0.13157	N	AEFDBHCI	0.091924	0.18615	N	-0.852786668613908	0.11981	0.5813239	-0.815637048781199	0.14116	0.7359606	0.999996972298098	0.74766	0.609539	0.35627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.63947	0.58350	0	.	.	5.76	2.8	0.31881	1.040000	0.29888	.	.	-0.698000	0.04070	0.000000	0.06391	0.000000	0.08366	0.057000	0.15750	0.426:0.0:0.574:0.0	8.167	0.30395	819	0.41190	.;Cadherin-like|Cadherin-like|Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.005051	0.001359	0.005848	0.050000	0.008621	0.003049	0.011364	0.1429	8397.22	50	chr5	141422807	.	G	A	8397.22	.	AC=2;AF=0.143;AN=14;DP=479;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=32.42;SOR=0.96	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1107	6	1	0	0
chr5	141654342	141654342	G	C	exonic	ARAP3	.	nonsynonymous SNV	ARAP3:NM_022481:exon33:c.C4243G:p.P1415A	.	426	1095	1	0	0	1	0.000456413	.	.	.	3569694	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.00566935009581	.	.	7.42e-05	0	0	0	0	1.5e-05	0	0.0005	5.82e-05	9	154602	rs766692885	3.968e-05	3.967e-05	1.77e-05	6.188e-05	0.0006	3.113e-05	2.847e-05	0.0005	0.0004	0	0	0	2.519e-05	0	0	4.496e-06	3.312e-05	0.0006	1.314e-05	1.313e-05	0	2.691e-05	0.0004	2.18e-06	8.2e-07	7.29e-05	3.029e-05	0	0	0	0	0	0	0	0	0	0.0004	0.156	0.24090	T	0.741	0.06406	T	0.03	0.20002	B	0.033	0.22329	B	0.000212	0.47681	D	0.149635	1	0.81001	D	2.14	0.59869	M	0.78	0.49358	T	-1.04	0.30762	N	0.137	0.22870	-1.0093	0.27136	T	0.075	0.30148	T	10	0.035955966	0.01869	T	0.005669	0.14681	T	0.022	0.04323	0.341	0.33302	0.431327455105	0.42751	0.15452852343415557	0.15373	0.445351969728	0.44427	0.406804680824	0.26015	T	0.024154	0.18966	T	-0.352599	0.04565	T	-0.408001	0.32457	T	0.0327906358619795	0.02437	T	0.89801	0.64352	D	0.21220663	0.43566	0.10300306	0.24702	0.21220663	0.43566	0.10300306	0.24702	-5.375	0.40678	T	.	.	0.075	0.36495	B	.;.;.;.	.;.;.;.	2.067169	0.26289	17.06	0.7917339799713764	0.12623	0.90105	0.51025	D	AEFDBIJ	0.220296	0.34507	N	-0.332123244877913	0.27935	1.536664	-0.16513329071323	0.32829	1.871704	0.99999991574726	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.87	4.0	0.45673	1.638000	0.36780	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0876:0.0:0.7443:0.1681	7.220	0.25155	772	0.48957	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1470.44	34	chr5	141654342	.	G	C	1470.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.302;DP=316;ExcessHet=0;FS=0.651;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=0.976;SOR=0.818	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1191	6	0	1	0
chr5	141878225	141878225	G	T	exonic	PCDH1	.	nonsynonymous SNV	PCDH1:NM_002587:exon1:c.C38A:p.A13E,PCDH1:NM_032420:exon1:c.C38A:p.A13E	.	.	.	.	.	.	.	.	0.7236	0.588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.803358931394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.63226	D	0.0	0.92824	D	0.978	0.58756	D	0.858	0.61127	P	.	.	.	.	0.94568	0.26654	N	0	0.06538	N	0.66	0.54540	T	0.03	0.06612	N	0.443	0.48134	-1.0220	0.23063	T	0.125	0.43008	T	9	0.35353094	0.52157	T	0.803359	0.98463	D	0.199	0.48268	0.276	0.22845	0.54265040602	0.53918	0.5416864636762939	0.54093	1.27300519965	0.82327	0.782763957977	0.79345	T	0.007524	0.13750	T	0.0004584	0.51716	T	-0.237118	0.51080	T	0.662200439416677	0.38992	D	0.535646	0.18153	T	0.24561118	0.47521	0.2605922	0.51824	0.24561118	0.47521	0.2605922	0.51823	-4.087	0.25098	T	.	.	0.1	0.42976	B	.;.;.	.;.;.	3.759067	0.53924	23.4	0.98505048356460678	0.42264	0.65484	0.32753	D	ALL	0.321832	0.42451	N	0.0942518768539899	0.46195	2.863621	0.148955816477266	0.47087	2.944237	0.999999999999943	0.74766	0.733237	0.96898	0	0.596491	0.49125	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	4.35	4.35	0.51454	2.334000	0.43579	.	.	0.560000	0.28382	0.139000	0.23489	1.000000	0.68203	0.083000	0.17415	0.0:0.0:1.0:0.0	12.236	0.53827	911	0.21964	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.61	6	chr5	141878225	.	G	T	33.61	.	AC=2;AF=0.143;AN=14;DP=33;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.81;SOR=0.693	GT:AD:DP:GQ:PL	0/0:4,0:4:12:0,12,107	6	1	0	0
chr5	142005010	142005010	C	A	exonic	GNPDA1	.	nonsynonymous SNV	GNPDA1:NM_005471:exon5:c.G516T:p.R172S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.363	0.0875799104661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.59928	D	0.009	0.74150	D	0.713	0.42139	P	0.564	0.49695	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.92	0.84325	M	1.04	0.47130	T	-5.76	0.87835	D	0.91	0.93841	-0.5552	0.66588	T	0.238	0.60523	T	10	0.80243266	0.79626	D	0.08758	0.74964	D	0.363	0.68319	0.818	0.93195	0.69193853668	0.68929	0.8746439533467097	0.87430	0.862465403166	0.69021	0.719341754913	0.69951	T	0.121706	0.71899	T	0.221145	0.75885	D	0.0798827	0.75571	D	0.976303219795227	0.71318	D	0.955004	0.82846	D	0.90189815	0.91554	0.6536155	0.79725	0.90189815	0.91555	0.6536155	0.79726	-11.158	0.80517	D	.	.	0.977	0.90609	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.667633	0.52141	23.2	0.99726578446656888	0.82477	0.80119	0.39843	D	AEFDBCI	0.372394	0.45806	N	0.3966357445912	0.61239	4.322373	0.389965504712888	0.60946	4.288052	0.999998189205042	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.84	4.97	0.65419	0.311000	0.19129	.	.	0.549000	0.26987	0.993000	0.37899	1.000000	0.68203	0.980000	0.58198	0.0:0.8604:0.0:0.1396	11.959	0.52285	926	0.17793	Glucosamine/galactosamine-6-phosphate isomerase;Glucosamine/galactosamine-6-phosphate isomerase;Glucosamine/galactosamine-6-phosphate isomerase;Glucosamine/galactosamine-6-phosphate isomerase;Glucosamine/galactosamine-6-phosphate isomerase;.;Glucosamine/galactosamine-6-phosphate isomerase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	522.44	79	chr5	142005010	.	C	A	522.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.939;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.61;ReadPosRankSum=1.87;SOR=0.794	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1224	6	0	1	0
chr5	143134100	143134100	A	C	exonic	ARHGAP26	.	nonsynonymous SNV	ARHGAP26:NM_001135608:exon19:c.A1832C:p.E611A,ARHGAP26:NM_001349547:exon19:c.A1724C:p.E575A,ARHGAP26:NM_015071:exon19:c.A1832C:p.E611A	Leukemia, juvenile myelomonocytic, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.00712873043642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.597	0.09329	T	0.462	0.39250	P	0.091	0.36237	B	0.586668	0.11090	N	0.833224	0.999899	0.50595	D	2.495	0.72670	M	3.14	0.08014	T	-0.98	0.35194	N	0.492	0.56231	-0.9129	0.46492	T	0.021	0.08686	T	10	0.25955918	0.43395	T	0.007129	0.18896	T	0.142	0.37995	0.35	0.34760	0.513653828353	0.51006	0.5307754389634289	0.53001	0.788677996729	0.65652	0.492697268724	0.37813	T	0.157	0.49941	T	-0.0192223	0.48965	T	-0.265388	0.48285	T	0.660321652889252	0.38910	D	0.89891	0.64583	D	0.0831255	0.19182	0.064379625	0.12895	0.0831255	0.19182	0.064379625	0.12895	-3.372	0.18539	T	.	.	0.114	0.29283	B	.;.;.;.	.;.;.;.	3.075789	0.41357	21.3	0.9970092086941007	0.80591	0.97653	0.76179	D	AEFGBCI	0.642935	0.61973	D	0.188733228651352	0.50658	3.253756	0.352884298075645	0.58680	4.040161	0.999999999720225	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.579976	0.35079	0	.	.	6.07	6.07	0.98675	6.007000	0.70391	11.211000	0.89399	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.669000	0.33223	1.0:0.0:0.0:0.0	15.611	0.76469	910	0.22284	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1168.53	35	chr5	143134100	.	A	C	1168.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.48;DP=298;ExcessHet=0;FS=1.497;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=0.747;SOR=0.52	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1263	6	0	1	0
chr5	148095825	148095825	C	T	exonic	SPINK5	.	nonsynonymous SNV	SPINK5:NM_001127698:exon10:c.C802T:p.R268C,SPINK5:NM_001127699:exon10:c.C802T:p.R268C,SPINK5:NM_006846:exon10:c.C802T:p.R268C	Atopy, Autosomal dominant;Netherton syndrome, Autosomal recessive	27	1458	31	6	0	43	0.0145319	.	.	.	297720	not_provided|Netherton_syndrome|Susceptibility_to_nonsyndromic_otitis_media|Ichthyosis_linearis_circumflexa|SPINK5-related_disorder	MedGen:C3661900|MONDO:MONDO:0009735,MedGen:C5574950,OMIM:256500,Orphanet:634|.|Human_Phenotype_Ontology:HP:0025810,MONDO:MONDO:0043106,MedGen:C0265962|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.176	.	0.0066	0.00658946	0.0065	0.0013	0.0039	0.0001	0.0035	0.0079	0.0112	0.0101	0.006714	1038	154602	rs142558269	0.0087	0.0087	0.0087	0.0087	0.0105	0.0086	0.0085	0.0100	0.0097	0.0017	0.0046	0.0147	7.572e-05	0.0032	0.0089	0.0093	0.0091	0.0105	0.0059	0.0059	0.0061	0.0057	0.0094	0.0056	0.0055	0.0082	0.0080	0.0015	0	0.0062	0.0133	0	0.0032	0	0.0088	0.0076	0.0094	0.002	0.72154	D	0.011	0.67890	D	0.999	0.77913	D	0.84	0.63994	P	0.457645	0.04850	N	1.411360	1	0.08975	N	2.135	0.59519	M	3.22	0.07024	T	-1.0	0.34596	N	0.229	0.29081	-1.0069	0.27881	T	0.037	0.16073	T	10	0.010680467	0.00237	T	.	.	.	0.176	0.44373	.	.	0.387529464389	0.38369	0.41044028393339194	0.40960	0.508721426473	0.49020	0.264859616756	0.05483	T	0.190079	0.54450	T	-0.478885	0.00751	T	-0.451266	0.27559	T	0.0166026273520082	0.00421	T	0.872413	0.58094	D	0.44952396	0.64011	0.23519337	0.48756	0.37980315	0.59302	0.23519337	0.48755	-9.877	0.73172	D	0.20916742614886388	0.27994	0.172	0.43476	B	.;.;.;.	.;.;.;.	3.671994	0.52224	23.2	0.99857554378171398	0.93639	0.21134	0.21293	N	AEFBI	0.098471	0.19841	N	-0.0612750867355711	0.39100	2.300454	-0.243013744255273	0.30013	1.686233	0.973580626111447	0.29468	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.82	3.82	0.43153	1.044000	0.29939	2.039000	0.30291	0.599000	0.40250	0.001000	0.13787	0.006000	0.19429	0.277000	0.23942	0.0:1.0:0.0:0.0	11.519	0.49792	838	0.37812	.;.;Kazal domain|Kazal domain|Kazal domain;Kazal domain|Kazal domain|Kazal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.014141	0.005102	0.017663	0.002941	0.000000	0.025862	0.024540	0.007576	0.07143	190.83	20	chr5	148095825	.	C	T	190.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.18;DP=210;ExcessHet=0;FS=1.74;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=-0.889;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,114,1191:.	6	0	1	0
chr5	149027790	149027790	G	A	exonic	SH3TC2	.	nonsynonymous SNV	SH3TC2:NM_024577:exon11:c.C1942T:p.R648W	Charcot-Marie-Tooth disease, type 4C, Autosomal recessive;Mononeuropathy of the median nerve, mild, Autosomal dominant	1	1519	2	0	0	2	0.000657895	.	.	.	302044	Charcot-Marie-Tooth_disease_type_4|Susceptibility_to_mononeuropathy_of_the_median_nerve,_mild|Charcot-Marie-Tooth_disease_type_4C|Hereditary_motor_and_sensory_neuropathy|not_provided	MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749|MONDO:MONDO:0013237,MedGen:C3150596,OMIM:613353|MONDO:MONDO:0011113,MedGen:C1866636,OMIM:601596,Orphanet:99949|MONDO:MONDO:0015358,MedGen:C0027888|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.415	0.110346206885	.	0.000998403	0.0007	0.0002	0.0003	0.0006	0	3.023e-05	0	0.0045	0.0006015	93	154602	rs537049075	0.0002	0.0002	0.0001	0.0003	0.0029	0.0002	0.0002	0.0026	0.0024	0	0.0002	0	0.0002	0	0.0002	2.608e-05	0.0004	0.0029	0.0001	0.0001	7.708e-05	0.0002	0.0031	8.162e-05	6.719e-05	0.0019	0.0015	7.215e-05	0	0	0	0	0	0	1.47e-05	0	0.0031	0.002	0.72154	D	0.002	0.79402	D	0.996	0.68779	D	0.708	0.54437	P	0.000788	0.41772	D	0.207467	0.994014	0.42749	D	2.24	0.63355	M	-0.32	0.68181	T	-3.94	0.73378	D	0.399	0.46462	-0.3623	0.73195	T	0.350	0.71383	T	10	0.013718247	0.00290	T	0.110346	0.78769	D	0.415	0.72555	.	.	0.902412248812	0.90143	0.544308950624314	0.54356	0.223994126687	0.24918	0.470833271742	0.34794	T	0.432276	0.78010	T	-0.268917	0.11878	T	-0.159577	0.58391	T	0.128516289445213	0.15243	T	0.960404	0.85096	D	0.18608673	0.40001	0.2734842	0.53268	0.20588624	0.42745	0.25333476	0.50978	-7.678	0.58855	D	0.3664969994616151	0.46244	0.140	0.30582	B	.;.	.;.	4.743446	0.76522	26.5	0.99902674874812725	0.97426	0.97140	0.72924	D	AEFDBI	0.896548	0.83774	D	0.636880852293556	0.75524	6.320926	0.653289031186836	0.78855	6.961151	0.999999999537996	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.491896	0.07777	0	.	.	6.03	6.03	0.97798	5.867000	0.69350	8.617000	0.77794	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.225000	0.22599	0.0:0.0:0.7437:0.2563	13.442	0.60571	783	0.47268	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	2277.9	22	chr5	149027790	.	G	A	2277.9	.	AC=2;AF=0.167;AN=12;DP=233;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.78;SOR=1.061	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1042	5	1	0	1
chr5	149259544	149259544	A	G	splicing	ABLIM3	NM_001301028:exon19:c.1606-2A>G	.	.	.	423	1063	33	3	0	39	0.0180139	0	0.006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00479233	0.0129	0	0.0160	0	0.0006	0.0052	0.0055	0.0210	0.0016494	255	154602	rs534581717	0.0032	0.0031	0.0026	0.0039	0.0233	0.0032	0.0031	0.0224	0.0221	0.0002	0.0030	0.0096	2.798e-05	0.0005	0.0074	0.0018	0.0044	0.0233	0.0023	0.0023	0.0020	0.0027	0.0214	0.0021	0.0020	0.0180	0.0168	0.0002	0	0.0025	0.0072	0	9.418e-05	0.0068	0.0024	0.0057	0.0214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.840044	0.00003	T	-0.962521	0.00225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.095399	0.03670	0.738	0.27858813484829209	0.01403	0.00144	0.00877	N	AEFBI	.	.	.	-1.47130147512055	0.02055	0.09032965	-1.69724869164619	0.01149	0.05170863	0.999982787927218	0.51787	0.218109	0.04136	0	0.059962	0.00310	0	0.078618	0.02440	0	0.357269	0.05819	0	0.103113	0.22672	4.67	-8.31	0.00877	-2.807000	0.00827	-0.339000	0.09830	-2.761000	0.00195	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3957:0.2122:0.2942:0.098	2.437	0.04212	862	0.33134	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	922.49	36	chr5	149259544	.	A	G	922.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.76;DP=265;ExcessHet=0;FS=8.991;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=1.37;SOR=0.879	GT:AD:DP:GQ:PL	0/1:42,41:83:99:933,0,1083	6	0	1	0
chr5	150649089	150649089	C	T	exonic	SYNPO	.	nonsynonymous SNV	SYNPO:NM_001109974:exon2:c.C814T:p.P272S,SYNPO:NM_007286:exon2:c.C814T:p.P272S,SYNPO:NM_001166208:exon3:c.C1546T:p.P516S,SYNPO:NM_001166209:exon3:c.C1546T:p.P516S	.	423	1097	2	0	0	2	0.000910747	.	.	.	439125	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.132	.	0.0048	0.00119808	0.0048	0.0012	0.0012	0	0.0105	0.0072	0.0045	6.072e-05	0.0049805	770	154602	rs146345840	0.0068	0.0068	0.0070	0.0065	0.0081	0.0067	0.0066	0.0079	0.0079	0.0010	0.0015	0.0001	0	0.0094	0.0010	0.0081	0.0052	0.0001	0.0051	0.0051	0.0048	0.0054	0.0079	0.0048	0.0047	0.0073	0.0071	0.0014	0.0011	0.0022	0	0	0.0124	0.0034	0.0079	0.0052	0	0.088	0.35537	T	0.266	0.22627	T	0.009	0.17573	B	0.008	0.16012	B	0.430543	0.12753	N	0.700955	1	0.08975	N	1.745	0.45235	L	1.5	0.31205	T	-1.75	0.43717	N	0.08	0.20129	-1.0237	0.22508	T	0.026	0.11220	T	10	0.0043495297	0.00088	T	.	.	.	0.132	0.35948	.	.	0.295226631146	0.29124	0.3095748377641315	0.30870	0.364366255787	0.38050	0.259144365788	0.04789	T	0.200489	0.55809	T	-0.575031	0.00207	T	-0.587092	0.13918	T	0.00543720824055088	0.00059	T	0.69643	0.30590	T	0.032841656	0.03386	0.04405414	0.05620	0.032841656	0.03385	0.04405414	0.05620	-2.728	0.07541	T	.	.	0.060	0.01986	B	.;.;.;.	.;.;.;.	-0.455906	0.02013	0.179	0.78201145300449315	0.12199	0.06490	0.12500	N	AEFDBHCI	.	.	.	-1.05903440081718	0.07411	0.3442097	-1.11177789294488	0.07474	0.3636965	0.999995382486348	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.576033	0.28219	0	0.714379	0.83352	0	.	.	5.19	-1.73	0.07646	-0.917000	0.04134	-1.731000	0.04830	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2633:0.2704:0.1986:0.2677	0.133	0.00070	835	0.38313	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	312.83	23	chr5	150649089	.	C	T	312.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.581;DP=196;ExcessHet=0;FS=1.623;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.027;SOR=0.339	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1059	6	0	1	0
chr5	151027505	151027505	G	C	exonic	GPX3	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	.	.	0.000399361	2.49e-05	0	8.645e-05	0	0	0	0	0.0001	3.23e-05	5	154602	rs558592006	7.532e-06	7.525e-06	2.726e-06	1.239e-05	0.0001	4.04e-06	2.95e-06	5.398e-05	4.044e-05	0	2.237e-05	0	0	0	0	0	1.657e-05	0.0001	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.532e-05	0	0	0	0	0	0	0.0002	0.087	0.32453	T	0.092	0.39954	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.075	0.27130	L	3.7	0.04079	T	-1.87	0.43717	N	0.758	0.75650	-1.1045	0.03588	T	0.021	0.09056	T	10	0.17810673	0.32879	T	.	.	.	0.235	0.53788	0.536	0.64585	0.501810158561	0.49816	.	.	1.16102251393	0.79485	0.608972012997	0.54170	T	0.157066	0.49951	T	-0.314431	0.07363	T	-0.486781	0.23728	T	0.582048367362653	0.35697	D	0.951205	0.81406	D	0.45689487	0.64478	0.1813814	0.40999	0.45689487	0.64479	0.1813814	0.40998	.	.	.	.	.	0.493	0.64261	A	.;.	.;.	5.024314	0.83521	28.1	0.98399374932731942	0.41052	0.98081	0.79437	D	AEFDBHCI	0.919317	0.88968	D	0.443791787925146	0.63851	4.627076	0.54113019012773	0.70781	5.556115	0.999999999396789	0.74766	0.744818	0.98587	0	0.379588	0.06130	0	0.732433	0.93434	0	0.683762	0.67416	0	.	.	5.59	5.59	0.84677	8.770000	0.91393	11.768000	0.95790	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0708:0.0:0.9292:0.0	14.771	0.69300	835	0.38313	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	2100.63	33	chr5	151027505	.	G	C	2100.63	.	AC=2;AF=0.143;AN=14;DP=248;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=28.39;SOR=0.992	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1307	6	1	0	0
chr5	151507207	151507207	G	C	exonic	FAT2	.	nonsynonymous SNV	FAT2:NM_001447:exon23:c.C12464G:p.S4155C	.	427	1073	21	1	0	23	0.010604	.	.	.	721325	FAT2-related_disorder|Spinocerebellar_ataxia_45|not_specified|not_provided	.|MONDO:MONDO:0033480,MedGen:C4540400,OMIM:617769,Orphanet:589527|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.275	0.0583599827964	0.0003	.	0.0010	0	0.0005	0	0	0.0009	0	0.0035	0.0007956	123	154602	rs145466001	0.0005	0.0005	0.0004	0.0006	0.0036	0.0004	0.0004	0.0024	0.0022	2.989e-05	0.0006	0.0057	0	1.877e-05	0.0036	0.0002	0.0008	0.0026	0.0004	0.0004	0.0004	0.0003	0.0014	0.0003	0.0003	0.0007	0.0005	2.405e-05	0	0.0001	0.0058	0	0	0.0068	0.0003	0.0024	0.0014	0.407	0.10245	T	0.035	0.52389	D	0.979	0.59044	D	0.635	0.51908	P	0.006493	0.31997	N	0.220530	0.999862	0.50061	D	1.365	0.34158	L	-1.03	0.76430	T	-1.49	0.36385	N	0.485	0.51940	-0.2370	0.76704	T	0.453	0.78656	T	10	0.009769082	0.00220	T	0.05836	0.67292	D	0.334	0.65620	.	.	0.885439632602	0.88431	0.3802229436836575	0.37937	0.502997777248	0.48648	0.476963639259	0.35639	T	0.094933	0.39518	T	-0.302035	0.08469	T	-0.210307	0.53666	T	0.108110176004173	0.13227	T	0.756024	0.37907	T	0.14777388	0.33767	0.086507246	0.20045	0.14777388	0.33766	0.086507246	0.20045	-5.171	0.38646	T	.	.	0.097	0.15966	B	.	.	3.465181	0.48318	22.6	0.87594490723490837	0.17340	0.96518	0.69540	D	AEFDBCI	0.627449	0.60990	D	0.252113336460178	0.53742	3.541934	0.16496362234461	0.47940	3.016867	0.999999996729769	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.75	4.75	0.59954	7.094000	0.76602	6.571000	0.55968	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.017000	0.10941	0.0:0.0:1.0:0.0	16.133	0.81269	892	0.26670	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.008152	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	918.44	44	chr5	151507207	.	G	C	918.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.145;DP=356;ExcessHet=0;FS=0.833;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-1.974;SOR=0.578	GT:AD:DP:GQ:PL	0/1:43,38:81:99:929,0,1105	6	0	1	0
chr5	151529364	151529364	G	T	exonic	FAT2	.	nonsynonymous SNV	FAT2:NM_001447:exon15:c.C9840A:p.D3280E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.647	0.0648678737629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.62929	D	0.000000	0.999907	0.50806	D	3.99	0.96693	H	-0.03	0.63077	T	-3.8	0.71762	D	0.842	0.83781	-0.0615	0.80961	T	0.456	0.78790	T	10	0.9736192	0.97045	D	0.064868	0.69409	D	0.647	0.86636	0.906	0.98027	0.790226333998	0.78828	0.8633507548854191	0.86299	0.549543402379	0.51853	0.658560335636	0.61203	T	0.379966	0.74260	T	0.263527	0.79854	D	0.140762	0.79594	D	0.999553382396698	0.97890	D	0.789321	0.42944	T	0.7767546	0.82455	0.7584443	0.85726	0.7767546	0.82456	0.7584443	0.85727	-8.488	0.64350	D	.	.	0.699	0.72914	P	.	.	3.732077	0.53391	23.4	0.99672321262496644	0.78652	0.83680	0.42782	D	AEFDGBCI	0.511696	0.54022	D	0.295548048950294	0.55922	3.756393	0.275344217360685	0.54103	3.576414	0.999987680498077	0.51787	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.58	3.81	0.43020	1.242000	0.32358	2.777000	0.34710	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2108:0.0:0.7892:0.0	10.372	0.43241	898	0.25240	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1479.49	34	chr5	151529364	.	G	T	1479.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.01;DP=309;ExcessHet=0;FS=2.642;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=-0.9;SOR=0.993	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr5	151663550	151663550	G	A	exonic	SPARC	.	nonsynonymous SNV	SPARC:NM_001309444:exon10:c.C931T:p.R311W	Osteogenesis imperfecta, type XVII, Autosomal recessive	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.000599042	0.0012	0	0.0008	0.0002	0.0014	0.0014	0.0011	0.0016	0.0011449	177	154602	rs201966091	0.0014	0.0014	0.0013	0.0015	0.0019	0.0013	0.0013	0.0017	0.0016	0.0001	0.0008	0.0058	5.041e-05	0.0007	0.0003	0.0013	0.0020	0.0019	0.0011	0.0011	0.0012	0.0011	0.0027	0.0010	0.0009	0.0016	0.0014	0.0001	0	0.0005	0.0066	0.0002	0.0005	0	0.0017	0.0005	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1063.45	47	chr5	151663550	.	G	A	1063.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.082;DP=234;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=22.63;ReadPosRankSum=-2.377;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1310:.	6	0	1	0
chr5	152392501	152392501	C	A	exonic	NMUR2	.	nonsynonymous SNV	NMUR2:NM_020167:exon4:c.G938T:p.G313V	.	.	.	.	.	.	.	.	0.9923	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.872e-07	6.841e-07	1.366e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.664e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.979	0.74454	D	0.000001	0.84330	D	0.000000	1	0.81001	D	1.9	0.50570	L	1.36	0.34452	T	-7.97	0.96368	D	0.869	0.86618	-0.7252	0.59205	T	0.201	0.55737	T	10	0.84745216	0.83914	D	0.040686	0.59514	D	0.345	0.66676	0.574	0.69826	0.410337123052	0.40646	0.6195414614587442	0.61887	0.707067738463	0.61477	0.715063929558	0.69327	T	0.28945	0.66224	T	0.0752271	0.61478	D	-0.129718	0.60996	T	0.99784255027771	0.92564	D	0.974303	0.90829	D	0.92667156	0.93905	0.8930364	0.94482	0.92667156	0.93905	0.8930364	0.94482	-13.927	0.92817	D	.	.	0.772	0.76032	P	.	.	4.753433	0.76773	26.6	0.99702560651610539	0.80729	0.96361	0.68762	D	AEFBI	0.830350	0.74908	D	0.497526866182037	0.66944	5.016372	0.409128381539435	0.62132	4.424	0.00218939012057454	0.09217	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.01	4.14	0.47821	4.071000	0.57275	3.771000	0.39754	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.733000	0.35199	0.0:0.9164:0.0:0.0836	12.220	0.53743	907	0.22727	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	35	chr5	152392501	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,108,1620	6	1	0	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	612.82	72	chr5	154834880	.	G	C	612.82	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.109;DP=616;ExcessHet=6.1542;FS=233.663;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.23;ReadPosRankSum=1.15;SOR=10.163	GT:AD:DP:GQ:PL	0/1:68,26:94:99:185,0,1412	1	0	5	1
chr5	154898477	154898477	C	T	exonic	GEMIN5	.	nonsynonymous SNV	GEMIN5:NM_001252156:exon23:c.G3305A:p.G1102E,GEMIN5:NM_015465:exon23:c.G3308A:p.G1103E	.	420	1093	9	0	0	9	0.00410023	.	.	.	2825471	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.218	0.0223503111972	.	.	0.0003	0	0	0	0	6e-05	0	0.0019	0.0002264	35	154602	rs35899504	0.0002	0.0002	0.0001	0.0002	0.0020	0.0002	0.0001	0.0018	0.0017	0	6.708e-05	3.826e-05	0	0	0.0009	4.946e-05	0.0002	0.0020	0.0002	0.0002	0.0001	0.0002	0.0023	0.0001	8.713e-05	0.0013	0.0010	0	0	0	0	0	0	0	0.0002	0.0005	0.0023	0.008	0.58626	D	0.006	0.70582	D	0.153	0.28093	B	0.057	0.26280	B	0.000320	0.45977	D	0.188221	0.996835	0.43448	D	2.045	0.56016	M	-0.47	0.70133	T	-2.9	0.60827	D	0.42	0.45992	-0.5212	0.67870	T	0.309	0.67967	T	10	0.033342123	0.01507	T	0.02235	0.45230	T	0.218	0.51265	0.358	0.36060	0.794561891209	0.79264	0.4992522190576079	0.49846	0.187504173009	0.21068	0.583928406239	0.50639	T	0.032256	0.22404	T	-0.286427	0.09998	T	-0.208836	0.53806	T	0.0572948620952491	0.06736	T	0.832017	0.49964	T	0.39621416	0.60469	0.49407843	0.70739	0.39621416	0.60470	0.49407843	0.70739	-10.683	0.77890	D	.	.	0.176	0.38534	B	.	.	3.017848	0.40382	21.2	0.98944199323229642	0.48997	0.93695	0.58928	D	AEFDBI	0.342419	0.43858	N	0.137105012772912	0.48200	3.035492	0.280703308675977	0.54412	3.60642	0.999997418525638	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	1.538000	0.35700	1.795000	0.28833	0.599000	0.40250	1.000000	0.71638	0.949000	0.28973	0.998000	0.85391	0.0:0.86:0.14:0.0	15.217	0.72967	915	0.20917	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	781.49	61	chr5	154898477	.	C	T	781.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.158;DP=238;ExcessHet=0;FS=2.182;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-1.717;SOR=1.048	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1223	6	0	1	0
chr5	156759229	156759229	G	A	exonic	SGCD	.	nonsynonymous SNV	SGCD:NM_001128209:exon8:c.G709A:p.A237T,SGCD:NM_000337:exon9:c.G712A:p.A238T	Cardiomyopathy, dilated, 1L;Muscular dystrophy, limb-girdle, type 2F, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	981495	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.732	0.147204455099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.046	0.49120	D	0.474	0.41077	P	0.222	0.40655	B	0.000000	0.84330	D	0.052490	0.999999	0.58761	D	2.01	0.54746	M	-4.06	0.96529	D	-2.59	0.55821	D	0.443	0.57690	0.753	0.93833	D	0.846	0.94857	D	10	0.8787819	0.87180	D	0.147204	0.82924	D	0.732	0.90633	0.863	0.95940	0.984057702845	0.98388	0.6936249309485905	0.69302	0.234433461644	0.25982	0.436582475901	0.30110	T	0.832488	0.96015	D	0.296553	0.82690	D	0.188201	0.82467	D	0.978514015674591	0.72364	D	0.90421	0.66396	D	0.37676	0.59081	0.3372995	0.59522	0.37676	0.59081	0.3372995	0.59521	-0.502	0.00584	T	0.2632546087307279	0.35518	0.275	0.52351	B	.;.	.;.	4.299641	0.65634	24.9	0.99916362686474358	0.98449	0.96634	0.70130	D	AEFBI	0.898626	0.84212	D	0.401311119462377	0.61494	4.351364	0.471736583257145	0.66124	4.911409	0.999094674514436	0.38425	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.93	4.93	0.64394	7.224000	0.77527	11.891000	0.99093	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.8427:0.1573	14.373	0.66416	534	0.73357	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr5	156759229	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	6	1	0	0
chr5	156851073	156851073	G	C	exonic	PPP1R2B	.	nonsynonymous SNV	PPP1R2B:NM_206858:exon1:c.G511C:p.D171H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.418e-05	0.0011	6.741e-05	4.09e-05	0.0002	4.4e-05	4.066e-05	5.98e-05	4.429e-05	0.0002	0	7.731e-05	0	0	0	6.047e-05	6.768e-05	1.171e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615255	0.59314	T	.	.	.	.	.	.	.	.	.	0.2572597244366428	0.25639	.	.	.	.	.	0.218599	0.58137	T	.	.	.	.	.	.	.	.	.	0.663034	0.27207	T	0.055607397	0.10830	0.18501627	0.41590	0.055607397	0.10830	0.18501627	0.41589	-8.286	0.63002	D	.	.	0.164	0.36154	B	.	.	2.539311	0.32847	19.16	0.82594821591478518	0.14274	0.82458	0.41683	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.180069036060123	0.17859	0.294411	0.05044	0	0.304816	0.05638	0	0.183335	0.04453	0	0.347871	0.05795	0	0.631564	0.41391	1.41	1.41	0.21461	5.516000	0.66771	6.822000	0.56673	0.171000	0.17763	1.000000	0.71638	1.000000	0.68203	0.420000	0.27228	0.0:0.0:1.0:0.0	8.870	0.34469	563	0.71062	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	353.26	89	chr5	156851073	.	G	C	353.26	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.31;DP=428;ExcessHet=0.3476;FS=188.352;MLEAC=1;MLEAF=0.071;MQ=56.7;MQRankSum=-2.78;QD=1.52;ReadPosRankSum=1.54;SOR=7.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:108,11:143:99:.:.:325,276,3152:.	6	0	1	0
chr5	156851073	156851073	G	A	exonic	PPP1R2B	.	nonsynonymous SNV	PPP1R2B:NM_206858:exon1:c.G511A:p.D171N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.031e-07	6.871e-07	0	1.409e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27636576	0.45198	T	.	.	.	.	.	.	.	.	.	0.1625296183966478	0.16172	.	.	.	.	.	0.070071	0.33869	T	.	.	.	.	.	.	.	.	.	0.745725	0.36599	T	0.046346847	0.07740	0.1435117	0.34103	0.046346847	0.07740	0.1435117	0.34102	-6.456	0.49945	T	.	.	0.086	0.10449	B	.	.	1.816213	0.23080	15.88	0.83290083237614843	0.14644	0.79821	0.39630	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.180069036060123	0.17859	0.294411	0.05044	0	0.304816	0.05638	0	0.183335	0.04453	0	0.347871	0.05795	0	0.631564	0.41391	1.41	1.41	0.21461	5.516000	0.66771	6.822000	0.56673	0.171000	0.17763	1.000000	0.71638	1.000000	0.68203	0.420000	0.27228	0.0:0.0:1.0:0.0	8.870	0.34469	563	0.71062	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	353.26	89	chr5	156851073	.	G	A	353.26	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.31;DP=428;ExcessHet=0.3476;FS=188.352;MLEAC=1;MLEAF=0.071;MQ=56.7;MQRankSum=-2.78;QD=1.52;ReadPosRankSum=1.54;SOR=7.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:108,24:143:99:.:.:325,0,4145:.	6	0	1	0
chr5	156851079	156851079	G	A	exonic	PPP1R2B	.	nonsynonymous SNV	PPP1R2B:NM_206858:exon1:c.G517A:p.E173K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.777e-06	1.577e-06	3.625e-06	0	2.479e-06	3e-07	1.1e-07	4.1e-07	1.5e-07	0	0	0	0	0	0	2.479e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39070764	0.54870	T	.	.	.	.	.	.	.	.	.	0.19709983115885485	0.19626	.	.	.	.	.	0.227446	0.59274	T	.	.	.	.	.	.	.	.	.	0.762324	0.38756	T	0.038285147	0.05070	0.17876568	0.40567	0.038285147	0.05070	0.17876568	0.40567	-6.38	0.49353	T	.	.	0.105	0.19357	B	.	.	2.276277	0.29103	18.01	0.83857666061755176	0.14959	0.79821	0.39630	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.180069036060123	0.17859	0.294411	0.05044	0	0.304816	0.05638	0	0.277913	0.05378	0	0.347871	0.05795	0	0.631564	0.41391	1.41	1.41	0.21461	3.796000	0.55211	6.879000	0.56809	0.171000	0.17763	1.000000	0.71638	1.000000	0.68203	0.503000	0.29084	0.0:0.0:1.0:0.0	8.870	0.34469	563	0.71062	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	613.86	83	chr5	156851079	.	G	A	613.86	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.691;DP=541;ExcessHet=1.1394;FS=326.493;MLEAC=1;MLEAF=0.083;MQ=56.42;MQRankSum=-2.902;QD=1.96;ReadPosRankSum=1.02;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:112,0:147:99:0|1:156851079_G_C:443,773,3835:156851079	5	0	1	1
chr5	156851083	156851083	T	C	exonic	PPP1R2B	.	nonsynonymous SNV	PPP1R2B:NM_206858:exon1:c.T521C:p.M174T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.288e-07	8.984e-06	1.461e-06	0	9.703e-07	0	0	.	.	0	0	0	0	0	0	9.703e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243669	0.41585	T	.	.	.	.	.	.	.	.	.	0.2662507915246334	0.26538	.	.	.	.	.	0.147658	0.48585	T	.	.	.	.	.	.	.	.	.	0.646635	0.25786	T	0.10551003	0.24947	0.40157664	0.64663	0.10551003	0.24946	0.40157664	0.64663	-3.115	0.11469	T	.	.	0.225	0.45617	B	.	.	0.804578	0.11755	8.329	0.87200384812672005	0.17058	0.72941	0.35687	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.0302876265336412	0.13934	0.294411	0.05044	0	0.304816	0.05638	0	0.277913	0.05378	0	0.347871	0.05795	0	0.607242	0.40932	1.41	1.41	0.21461	4.434000	0.59679	7.379000	0.58442	0.168000	0.17747	1.000000	0.71638	1.000000	0.68203	0.538000	0.29892	0.0:0.0:0.0:1.0	6.974	0.23844	563	0.71062	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	41.44	84	chr5	156851083	.	T	C	41.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.537;DP=438;ExcessHet=0;FS=119.583;MLEAC=1;MLEAF=0.071;MQ=56.7;MQRankSum=-3.039;QD=0.49;ReadPosRankSum=1.65;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:130,23:153:21:0|1:156851079_G_C:0,21,4587:156851079	6	0	1	0
chr5	156851084	156851084	G	A	exonic	PPP1R2B	.	nonsynonymous SNV	PPP1R2B:NM_206858:exon1:c.G522A:p.M174I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23448128	0.40489	T	.	.	.	.	.	.	.	.	.	0.1570721436678043	0.15628	.	.	.	.	.	0.084872	0.37375	T	.	.	.	.	.	.	.	.	.	0.761924	0.38711	T	0.17414516	0.38202	0.39416957	0.64118	0.17414516	0.38201	0.39416957	0.64117	-3.596	0.17799	T	.	.	0.292	0.52360	B	.	.	0.679330	0.10477	7.195	0.79777657296161864	0.12896	0.66633	0.33146	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.00106444667798837	0.08183	0.294411	0.05044	0	0.304816	0.05638	0	0.277913	0.05378	0	0.347871	0.05795	0	0.0990276	0.22063	1.41	-0.391	0.11826	5.445000	0.66341	9.172000	0.79038	0.171000	0.17763	1.000000	0.71638	1.000000	0.68203	0.545000	0.30055	0.3286:0.0:0.6714:0.0	5.366	0.15415	563	0.71062	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	41.46	84	chr5	156851084	.	G	A	41.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.316;DP=442;ExcessHet=0;FS=118.235;MLEAC=1;MLEAF=0.071;MQ=56.69;MQRankSum=-3.039;QD=0.49;ReadPosRankSum=1.6;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:128,23:151:15:0|1:156851079_G_C:0,15,4508:156851079	6	0	1	0
chr5	157037311	157037311	G	C	exonic	HAVCR1	.	nonsynonymous SNV	HAVCR1:NM_012206:exon6:c.C888G:p.I296M,HAVCR1:NM_001173393:exon7:c.C888G:p.I296M,HAVCR1:NM_001308156:exon7:c.C888G:p.I296M	.	.	.	.	.	.	.	.	.	.	.	2767796	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.00447617247417	.	.	3.313e-05	0	0	0	0	4.496e-05	0	6.057e-05	2.59e-05	4	154602	rs754171803	4.197e-05	4.241e-05	4.111e-05	4.283e-05	0.0005	3.329e-05	3.018e-05	0.0001	7.57e-05	0	2.237e-05	0	0	0	0.0005	4.98e-05	1.663e-05	1.162e-05	4.596e-05	4.593e-05	5.139e-05	4.028e-05	8.82e-05	2.108e-05	1.526e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0.0034	8.82e-05	0	0	0.006	0.61437	D	0.032	0.53426	D	0.764	0.43716	P	0.242	0.38699	B	0.661860	0.10420	N	0.817023	1	0.08975	N	.	.	.	2.26	0.17596	T	-0.68	0.19509	N	0.316	0.35620	-1.0524	0.13736	T	0.034	0.14813	T	10	0.2033078	0.36481	T	0.004476	0.10969	T	0.055	0.15663	0.565	0.68633	0.358948522604	0.35510	0.11507033707333514	0.11435	0.46317687756	0.45825	0.301456302404	0.10617	T	0.015584	0.13043	T	-0.330719	0.06057	T	-0.58238	0.14332	T	0.152040362358093	0.17265	T	0.50365	0.15850	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.29367	B	.;.;.;.	.;.;.;.	0.989842	0.13675	10.22	0.99503934093137081	0.68206	0.08289	0.14237	N	AEFBI	0.036166	0.04774	N	-0.454874452813842	0.23574	1.266972	-0.571281204974551	0.20243	1.089752	0.998581954892918	0.37247	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.07	3.19	0.35720	0.074000	0.14525	0.368000	0.17646	0.676000	0.76740	0.005000	0.17040	0.349000	0.24462	0.026000	0.12556	0.0:0.2067:0.7933:0.0	9.933	0.40701	637	0.64373	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1254.45	34	chr5	157037311	.	G	C	1254.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.74;DP=291;ExcessHet=0;FS=1.597;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-0.673;SOR=0.675	GT:AD:DP:GQ:PL	0/1:51,50:101:99:1265,0,1147	6	0	1	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	40550.0	325	chr5	157052557	.	C	*	40550.0	.	AC=9;AF=0.643;AN=14;BaseQRankSum=0.603;DP=3008;ExcessHet=0;FS=0;MLEAC=9;MLEAF=0.643;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=-0.37;SOR=0.722	GT:AD:DP:GQ:PL	0/0:0,0:675:99:30142,30143,30144	2	4	1	0
chr5	157165928	157165928	G	T	exonic	FAM71B	.	nonsynonymous SNV	FAM71B:NM_130899:exon1:c.C241A:p.L81I	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.00904159084209	.	.	0.0004	0	8.637e-05	0	0	0.0001	0	0.0028	0.0003493	54	154602	rs753017086	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	2.236e-05	0	0	0	0.0014	6.025e-05	0.0001	0.0027	9.192e-05	9.186e-05	8.993e-05	9.4e-05	0.0015	5.524e-05	4.361e-05	0.0007	0.0005	0	0	0	0	0	0	0	0.0001	0	0.0015	0.059	0.37536	T	0.013	0.63109	D	1.0	0.90584	D	0.996	0.84481	D	0.008740	0.30696	N	0.211972	0.533176	0.31473	N	2.95	0.84923	M	3.17	0.07599	T	-1.86	0.43524	N	0.542	0.56919	-0.8238	0.53695	T	0.091	0.34928	T	10	0.041705012	0.02851	T	0.009042	0.23797	T	0.201	0.48592	0.491	0.57732	0.221019684889	0.21715	0.16683595858366893	0.16603	0.521529759999	0.49918	0.575483798981	0.49450	T	0.237165	0.60479	T	-0.4485	0.01153	T	-0.421006	0.30959	T	0.256254536269858	0.23150	T	0.893711	0.63166	D	0.14817753	0.33839	0.16372362	0.37964	0.14817753	0.33839	0.16372362	0.37964	-7.7	0.59008	D	.	.	0.224	0.45495	B	.	.	3.838695	0.55534	23.6	0.99580780977141337	0.72980	0.86167	0.45397	D	AEFBI	0.371153	0.45727	N	0.692937394801496	0.79168	7.021389	0.587555663670919	0.74047	6.071048	0.970119861462481	0.29182	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.67	4.67	0.58089	3.576000	0.53622	7.688000	0.65646	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.464000	0.28207	0.0:0.0:1.0:0.0	13.803	0.62702	509	0.75304	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	1896.49	40	chr5	157165928	.	G	T	1896.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.481;DP=306;ExcessHet=0;FS=8.462;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.54;ReadPosRankSum=0.778;SOR=0.989	GT:AD:DP:GQ:PL	0/1:49,73:122:99:1907,0,1230	6	0	1	0
chr5	159323321	159323321	C	T	exonic	IL12B	.	nonsynonymous SNV	IL12B:NM_002187:exon3:c.G97A:p.V33I	Immunodeficiency 29, mycobacteriosis, Autosomal recessive	2	1451	68	1	0	70	0.0235532	.	.	.	455342	Mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_IL12B_deficiency|not_provided	MONDO:MONDO:0013954,MedGen:C4013948,OMIM:614890,Orphanet:319558|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.142	.	0.0043	0.00379393	0.0065	0.0010	0.0037	0.0006	0.0116	0.0061	0.0123	0.0145	0.0061642	953	154602	rs3213096	0.0054	0.0054	0.0051	0.0057	0.0186	0.0053	0.0052	0.0157	0.0146	0.0011	0.0037	0.0090	0.0004	0.0083	0.0186	0.0048	0.0069	0.0136	0.0046	0.0047	0.0043	0.0050	0.0099	0.0044	0.0043	0.0077	0.0069	0.0009	0	0.0059	0.0069	0.0006	0.0119	0.0136	0.0052	0.0090	0.0099	0.149	0.24758	T	0.174	0.30045	T	0.002	0.09854	B	0.007	0.12992	B	0.000001	0.84330	D	0.054974	0.998676	0.45259	D	2.255	0.64187	M	1.94	0.22678	T	-0.4	0.13805	N	0.125	0.11769	-1.1033	0.03714	T	0.049	0.20750	T	10	0.0053630173	0.00118	T	.	.	.	0.142	0.37995	.	.	0.329020015101	0.32502	0.5261362391023952	0.52537	0.248504126225	0.27412	0.318446367979	0.13186	T	0.164173	0.50953	T	-0.552734	0.00281	T	-0.56105	0.16279	T	0.00634437416106121	0.00070	T	0.687731	0.29668	T	0.114354566	0.26997	0.07641048	0.16920	0.10463757	0.24737	0.08397647	0.19284	-4.602	0.32197	T	0.3324810881554746	0.43046	0.091	0.13174	B	.	.	1.512208	0.19427	14.26	0.95641778802667776	0.27441	0.51784	0.28977	D	AEFBI	0.092113	0.18652	N	-0.3214034749087	0.28335	1.562097	-0.235318330737127	0.30280	1.703564	0.999998887974361	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.02	5.16	0.70563	1.585000	0.36210	4.066000	0.41626	-0.193000	0.09282	0.909000	0.31653	0.999000	0.35428	0.759000	0.36109	0.0:0.9177:0.0:0.0823	11.460	0.49454	911	0.21964	Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.022681	0.010101	0.021739	0.011696	0.000000	0.008621	0.039877	0.037879	0.07143	1390.45	33	chr5	159323321	.	C	T	1390.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.488;DP=272;ExcessHet=0;FS=2.648;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-1.979;SOR=0.724	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,973	6	0	1	0
chr5	160406475	160406475	T	C	exonic	SLU7	.	nonsynonymous SNV	SLU7:NM_001364517:exon12:c.A1325G:p.N442S,SLU7:NM_001364518:exon12:c.A1280G:p.N427S,SLU7:NM_001364522:exon12:c.A1310G:p.N437S,SLU7:NM_006425:exon12:c.A1280G:p.N427S,SLU7:NM_001364520:exon13:c.A1280G:p.N427S,SLU7:NM_001364521:exon13:c.A1280G:p.N427S,SLU7:NM_001364523:exon13:c.A1310G:p.N437S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597	0.100851578333	.	0.000199681	8.39e-06	0	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs201427710	1.373e-05	1.368e-05	1.23e-05	1.518e-05	0.0003	8.97e-06	7.29e-06	0.0002	0.0001	0	0	0	0.0003	0	0	2.702e-06	0	7.02e-05	1.314e-05	1.313e-05	1.285e-05	1.344e-05	0.0004	2.18e-06	8.2e-07	6.825e-05	2.856e-05	0	0	0	0	0.0004	0	0	0	0	0	0.003	0.68238	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.145	0.88303	M	0.73	0.50721	T	-4.51	0.78222	D	0.943	0.95021	-0.1212	0.79606	T	0.383	0.73951	T	10	0.89598584	0.88951	D	0.100852	0.77338	D	0.597	0.84019	.	.	0.839406912922	0.83787	0.7981235478272021	0.79765	0.557901603779	0.52390	0.685097932816	0.65002	T	0.40734	0.76298	T	-0.178443	0.23967	T	-0.288592	0.45920	T	0.7935973534213	0.45925	D	0.958404	0.84340	D	0.4711548	0.65361	0.48200816	0.70006	0.4711548	0.65362	0.48200816	0.70007	-8.899	0.67045	D	.	.	0.277	0.51068	B	.	.	4.429632	0.68686	25.3	0.99901227489553301	0.97275	0.99001	0.89785	D	AEFBI	0.910667	0.86887	D	0.92635892091466	0.92989	11.75261	0.88741657988039	0.95001	13.22388	0.999999999634456	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	7.597000	0.81989	7.856000	0.71202	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.641	0.84955	928	0.17405	Pre-mRNA-splicing factor SLU7 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	489.63	34	chr5	160406475	.	T	C	489.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.26;DP=212;ExcessHet=0;FS=1.303;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=1.29;SOR=1.115	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1148	6	0	1	0
chr5	160407769	160407769	-	T	exonic	SLU7	.	frameshift insertion	SLU7:NM_001364517:exon10:c.1006dupA:p.T336Nfs*16,SLU7:NM_001364518:exon10:c.961dupA:p.T321Nfs*16,SLU7:NM_001364522:exon10:c.991dupA:p.T331Nfs*16,SLU7:NM_006425:exon10:c.961dupA:p.T321Nfs*16,SLU7:NM_001364520:exon11:c.961dupA:p.T321Nfs*16,SLU7:NM_001364521:exon11:c.961dupA:p.T321Nfs*16,SLU7:NM_001364523:exon11:c.991dupA:p.T331Nfs*16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.841e-07	0	1.376e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	203.21	34	chr5	160407769	.	G	GT	203.21	.	AC=2;AF=0.143;AN=14;DP=210;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=33.87;SOR=1.329	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1036	6	1	0	0
chr5	160565578	160565578	G	A	exonic	ATP10B	.	nonsynonymous SNV	ATP10B:NM_001366652:exon25:c.C4261T:p.L1421F,ATP10B:NM_001366655:exon25:c.C4261T:p.L1421F,ATP10B:NM_001366657:exon25:c.C4225T:p.L1409F,ATP10B:NM_025153:exon26:c.C4261T:p.L1421F	.	431	1085	6	0	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0046	0.00998403	0.0043	0.0153	0.0011	0.0073	0	2.997e-05	0.0056	0.0177	0.0039133	605	154602	rs61734664	0.0018	0.0018	0.0014	0.0022	0.0182	0.0017	0.0017	0.0175	0.0172	0.0154	0.0007	0	0.0052	0	0.0012	6.385e-05	0.0028	0.0182	0.0047	0.0047	0.0045	0.0048	0.0158	0.0044	0.0043	0.0129	0.0123	0.0136	0	0.0008	0	0.0081	0	0	0.0001	0.0033	0.0158	0.24	0.17701	T	0.738	0.05018	T	0.001	0.07471	B	0.002	0.06944	B	0.079211	0.20998	N	0.442392	1	0.08975	N	0.46	0.12951	N	0.89	0.45636	T	-0.52	0.16187	N	0.035	0.01004	-1.0430	0.16413	T	0.044	0.18783	T	9	0.004099667	0.00080	T	.	.	.	0.064	0.18567	.	.	0.380223377699	0.37629	0.07079351427242406	0.07016	0.0846576647168	0.09566	0.228478685021	0.01857	T	0.004191	0.03601	T	-0.691058	0.00041	T	-0.751153	0.03441	T	0.00179444766714016	0.00018	T	0.607939	0.22935	T	0.055694077	0.10857	0.06809045	0.14173	0.055694077	0.10856	0.06809045	0.14172	-4.605	0.32234	T	.	.	0.068	0.02927	B	.;.	.;.	0.378158	0.07500	4.146	0.96907846392621111	0.31566	0.05978	0.11939	N	AEFDHIJ	0.049509	0.08561	N	-0.783032262373867	0.13752	0.679773	-0.741836468698896	0.15923	0.8398563	0.0550910044288657	0.15002	0.487112	0.14033	0	0.573888	0.26702	0	0.48864	0.07692	0	0.564101	0.26826	0	.	.	5.58	3.69	0.41483	0.651000	0.24559	1.445000	0.26559	0.676000	0.76740	0.116000	0.23103	0.798000	0.26924	0.693000	0.33928	0.2407:0.0:0.7593:0.0	6.741	0.22623	887	0.27948	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.011364	0.07143	1935.44	36	chr5	160565578	.	G	A	1935.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.66;DP=387;ExcessHet=0;FS=5.308;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.144;SOR=0.424	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr5	160634479	160634479	T	G	exonic	ATP10B	.	nonsynonymous SNV	ATP10B:NM_001366658:exon7:c.A1172C:p.N391T,ATP10B:NM_001366654:exon10:c.A1388C:p.N463T,ATP10B:NM_001366652:exon11:c.A1256C:p.N419T,ATP10B:NM_001366653:exon11:c.A1256C:p.N419T,ATP10B:NM_001366655:exon11:c.A1256C:p.N419T,ATP10B:NM_001366656:exon11:c.A1256C:p.N419T,ATP10B:NM_001366657:exon11:c.A1220C:p.N407T,ATP10B:NM_025153:exon12:c.A1256C:p.N419T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.0224923115898	.	.	.	.	.	.	.	.	.	.	.	.	.	rs751401103	1.026e-05	1.026e-05	8.167e-06	1.238e-05	0.0023	6.16e-06	4.89e-06	0.0013	0.0011	0	0	0	0	0	0.0023	0	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.50132	D	0.023	0.57104	D	0.635	0.40310	P	0.116	0.31939	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.385	0.34509	L	-0.07	0.63738	T	-5.31	0.84457	D	0.378	0.41952	-0.3546	0.73421	T	0.366	0.72613	T	9	0.5299416	0.63125	D	0.022492	0.45384	T	0.332	0.65424	0.433	0.48336	0.821825675267	0.82014	0.8080106135015133	0.80756	0.262087392394	0.28775	0.739262580872	0.72864	T	0.057393	0.30554	T	-0.0179755	0.49142	T	-0.263597	0.48464	T	0.97264963388443	0.69779	D	0.941006	0.77964	D	0.5250443	0.68548	0.45804358	0.68508	0.5250443	0.68549	0.45804358	0.68508	-10.762	0.78337	D	.	.	0.327	0.54982	B	.;.;.	.;.;.	3.683176	0.52433	23.2	0.98524617339420761	0.42508	0.96217	0.68073	D	AEFI	0.854748	0.77179	D	0.503886604515248	0.67318	5.065845	0.506357456936277	0.68416	5.217151	0.774294780563418	0.23726	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.53	5.53	0.82530	6.214000	0.72143	7.803000	0.69204	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.0:0.1431:0.8569	12.087	0.53005	858	0.34001	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	126.44	36	chr5	160634479	.	T	G	126.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.25;DP=235;ExcessHet=0;FS=1.987;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.9;ReadPosRankSum=-1.465;SOR=1.329	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,108,1620	6	0	1	0
chr5	168204594	168204594	G	A	exonic	TENM2	.	nonsynonymous SNV	TENM2:NM_001080428:exon16:c.G3101A:p.R1034Q,TENM2:NM_001368145:exon18:c.G3341A:p.R1114Q,TENM2:NM_001368146:exon18:c.G3314A:p.R1105Q,TENM2:NM_001122679:exon20:c.G3770A:p.R1257Q	.	434	1059	24	5	0	34	0.0157993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344	.	0.0034	0.00499201	0.0054	0.0012	0.0035	0.0001	0.0014	0.0047	0.0045	0.0164	0.0051681	799	154602	rs141103827	0.0047	0.0047	0.0043	0.0050	0.0141	0.0046	0.0045	0.0135	0.0132	0.0007	0.0035	0.0075	5.038e-05	0.0027	0.0088	0.0043	0.0046	0.0141	0.0037	0.0037	0.0034	0.0039	0.0155	0.0034	0.0033	0.0127	0.0117	0.0012	0	0.0038	0.0037	0.0008	0.0010	0.0068	0.0049	0.0038	0.0155	0.004	0.65419	D	0.109	0.37449	T	0.785	0.52977	P	0.166	0.35067	B	0.000549	0.43413	D	0.229981	0.721562	0.33623	D	0.625	0.15840	N	-2.61	0.89953	D	0.04	0.08340	N	0.455	0.51226	0.113	0.84404	D	0.409	0.75796	T	10	0.009176135	0.00207	T	.	.	.	0.344	0.66582	.	.	0.196089822672	0.19227	0.5180754742475734	0.51730	0.587153137814	0.54305	0.475716888905	0.35468	T	0.028301	0.23509	T	-0.295638	0.09077	T	-0.185116	0.56046	T	0.0228504415089554	0.01006	T	0.978902	0.92647	D	0.217094	0.44184	0.1503216	0.35457	0.217094	0.44184	0.1503216	0.35456	-8.59	0.65023	D	.	.	0.094	0.14385	B	.;.;.	.;.;.	4.166781	0.62622	24.5	0.99942076222620435	0.99824	0.93268	0.57765	D	AEFBI	0.719395	0.67029	D	0.130579323262987	0.47893	3.008764	0.225342744865541	0.51258	3.309864	0.999211784447859	0.38775	0.487112	0.14033	0	0.59043	0.45803	0	0.49644	0.08281	0	0.564101	0.26826	0	.	.	4.9	4.01	0.45821	5.916000	0.69712	7.656000	0.63963	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1425:0.8575:0.0	15.095	0.71893	933	0.16026	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.005051	0.008152	0.014620	0.000000	0.008621	0.015244	0.007576	0.07143	1588.44	38	chr5	168204594	.	G	A	1588.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.427;DP=326;ExcessHet=0;FS=1.357;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-0.101;SOR=0.836	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1391	6	0	1	0
chr5	168430220	168430220	A	G	exonic	WWC1	.	nonsynonymous SNV	WWC1:NM_001161661:exon14:c.A2084G:p.K695R,WWC1:NM_001161662:exon14:c.A2084G:p.K695R,WWC1:NM_015238:exon14:c.A2084G:p.K695R	.	419	1096	6	1	0	8	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0163418596336	0.0011	0.000798722	0.0015	0	0.0014	0	0.0003	0.0021	0.0025	0.0012	0.0012613	195	154602	rs61740510	0.0015	0.0015	0.0015	0.0015	0.0023	0.0015	0.0014	0.0017	0.0016	5.975e-05	0.0008	0.0016	0	0.0003	0.0023	0.0017	0.0013	0.0011	0.0010	0.0010	0.0010	0.0010	0.0017	0.0008	0.0008	0.0014	0.0013	0.0002	0	0.0005	0.0023	0	0	0	0.0017	0.0019	0.0015	0.035	0.46910	D	0.038	0.51421	D	0.96	0.64070	D	0.519	0.73362	P	0.000005	0.62929	N	0.104682	0.999994	0.58761	D	2.885	0.83555	M	1.1	0.39050	T	-1.69	0.46673	N	0.244	0.27554	-0.8772	0.49981	T	0.158	0.49178	T	10	0.015007794	0.00315	T	0.016342	0.37549	T	0.166	0.42578	.	.	0.542543016418	0.53907	0.28136465332949323	0.28049	0.241955391217	0.26711	0.446965426207	0.31530	T	0.096653	0.39868	T	-0.426478	0.01557	T	-0.392646	0.34241	T	0.0793158652097816	0.09898	T	0.771723	0.40231	T	0.2853584	0.51557	0.2527979	0.50915	0.2853584	0.51557	0.2527979	0.50914	-5.906	0.45486	T	.	.	0.080	0.11461	B	.;.;.	.;.;.	4.102456	0.61177	24.3	0.99875310549484575	0.95244	0.97318	0.73996	D	AEFDBI	0.607897	0.59769	D	0.396468839924531	0.61230	4.321345	0.355705417135825	0.58852	4.058503	0.999923850039824	0.46280	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.27	2.9	0.32809	4.974000	0.63486	6.952000	0.57027	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.8542:0.0:0.1458:0.0	9.257	0.36751	955	0.09969	WWC, C2 domain;.;WWC, C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.07143	1421.44	40	chr5	168430220	.	A	G	1421.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.778;DP=254;ExcessHet=0;FS=5.456;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.95;ReadPosRankSum=0.221;SOR=0.256	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1238	6	0	1	0
chr5	168687085	168687085	G	C	exonic	SLIT3	.	nonsynonymous SNV	SLIT3:NM_001271946:exon30:c.C3229G:p.L1077V,SLIT3:NM_003062:exon30:c.C3208G:p.L1070V	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.0831671694953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	0	5.5e-06	3.478e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	8.993e-07	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.028	0.54934	D	0.019	0.17989	B	0.063	0.27082	B	0.007234	0.31521	N	0.356949	0.639407	0.30629	N	0.705	0.18577	N	-2.86	0.91421	D	-0.5	0.15782	N	0.172	0.18376	-0.1979	0.77725	T	0.518	0.81995	D	10	0.3669253	0.53175	T	0.083167	0.74058	D	0.263	0.57612	0.489	0.57415	0.491313100916	0.48765	0.22215626967794755	0.22130	0.331224445869	0.35204	0.453707903624	0.32451	T	0.266133	0.63805	T	-0.00301131	0.51240	T	-0.242102	0.50594	T	0.223448768258095	0.21635	T	0.89941	0.67676	D	0.15801196	0.35572	0.10855253	0.26150	0.15801196	0.35572	0.10855253	0.26150	-6.497	0.50263	T	.	.	0.102	0.22098	B	.;.;.	.;.;.	2.758321	0.36172	20.2	0.99535399021887261	0.70150	0.94516	0.61418	D	AEFDBI	0.711470	0.66490	D	-0.270571709893284	0.30291	1.687527	-0.147654233386005	0.33499	1.916824	0.00162169256437607	0.08719	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	4.45	2.38	0.28415	2.015000	0.40581	3.852000	0.40093	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.1985:0.0:0.635:0.1665	4.761	0.12483	967	0.07127	EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	998.45	34	chr5	168687085	.	G	C	998.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.551;DP=266;ExcessHet=0;FS=1.789;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.538;SOR=0.65	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1158	6	0	1	0
chr5	169598495	169598495	A	T	exonic	SPDL1	.	nonsynonymous SNV	SPDL1:NM_001329639:exon9:c.A1052T:p.E351V,SPDL1:NM_001329640:exon9:c.A1052T:p.E351V,SPDL1:NM_001329641:exon9:c.A1052T:p.E351V,SPDL1:NM_017785:exon9:c.A1052T:p.E351V,SPDL1:NM_001329642:exon10:c.A839T:p.E280V,SPDL1:NM_001329643:exon10:c.A839T:p.E280V	.	458	1026	36	2	0	40	0.0191205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	0.0052	0.00519169	0.0070	0.0016	0.0024	0	0.0009	0.0063	0.0143	0.0221	0.0066041	1021	154602	rs143453400	0.0074	0.0075	0.0069	0.0079	0.0223	0.0073	0.0073	0.0215	0.0211	0.0011	0.0027	0.0213	0.0001	0.0012	0.0123	0.0069	0.0078	0.0223	0.0054	0.0054	0.0056	0.0052	0.0263	0.0051	0.0050	0.0226	0.0212	0.0012	0	0.0033	0.0231	0.0002	0.0009	0.0102	0.0073	0.0047	0.0263	0.038	0.42783	D	0.049	0.48336	D	0.383	0.34425	B	0.151	0.34210	B	0.005567	0.32687	N	0.342683	0.653632	0.30511	N	1.24	0.30952	L	1.27	0.36146	T	-2.9	0.60827	D	0.574	0.59648	-0.8781	0.49911	T	0.113	0.40331	T	10	0.004106611	0.00081	T	.	.	.	0.069	0.20116	.	.	0.493964856914	0.49030	0.10170001217084026	0.10100	0.195775768481	0.21932	0.405035167933	0.25769	T	0.068886	0.33570	T	-0.487323	0.00672	T	-0.455863	0.27051	T	0.0214386891831938	0.00847	T	0.731327	0.34690	T	0.10228599	0.24167	0.10267653	0.24615	0.10732706	0.25379	0.10267653	0.24614	-4.592	0.32071	T	.	.	0.116	0.23219	B	.	.	4.513245	0.70700	25.6	0.99283097900901096	0.57973	0.92365	0.55543	D	AEFBI	0.293992	0.40448	N	0.150376278577631	0.48831	3.090472	0.22321824879197	0.51139	3.299027	0.99997338782583	0.50053	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.85	4.7	0.58776	3.010000	0.49246	5.961000	0.51824	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.7774:0.1482:0.0744:0.0	7.067	0.24336	930	0.16408	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.007049	0.005051	0.010870	0.000000	0.000000	0.017241	0.009146	0.003788	0.07143	1175.45	33	chr5	169598495	.	A	T	1175.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.292;DP=266;ExcessHet=0;FS=1.811;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-1.805;SOR=0.946	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	6	0	1	0
chr5	170718860	170718860	T	C	exonic	KCNIP1	.	nonsynonymous SNV	KCNIP1:NM_001034838:exon2:c.T191C:p.V64A,KCNIP1:NM_001278339:exon2:c.T164C:p.V55A,KCNIP1:NM_014592:exon2:c.T164C:p.V55A,KCNIP1:NM_001034837:exon3:c.T197C:p.V66A,KCNIP1:NM_001278340:exon3:c.T80C:p.V27A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0109229117637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.32453	T	0.805	0.04652	T	0.003	0.11197	B	0.001	0.04355	B	0.000319	0.45977	D	0.224355	0.999998	0.58761	D	1.52	0.38360	L	2.03	0.20959	T	-2.12	0.48184	N	0.646	0.65758	-1.0881	0.05856	T	0.043	0.18326	T	9	0.24987778	0.42306	T	0.010923	0.28000	T	0.047	0.12962	0.333	0.32005	0.509346181843	0.50574	0.4929283121534364	0.49213	1.31644505472	0.83334	0.649020195007	0.59847	T	0.069783	0.33796	T	-0.11676	0.33653	T	-0.405494	0.32747	T	0.923697412014008	0.58448	D	0.754824	0.38317	T	0.36316597	0.58076	0.28125048	0.54105	0.36316597	0.58076	0.28125048	0.54104	-3.912	0.46563	T	.	.	0.655	0.71888	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.131586	0.61826	24.4	0.98728706944515099	0.45318	0.91619	0.53907	D	AEFDBI	0.653960	0.62681	D	-0.0267853319418758	0.40646	2.417329	0.170571629451474	0.48242	3.042815	0.99900038174788	0.38186	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.59	5.59	0.84677	6.255000	0.72423	5.086000	0.47311	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.713	0.62156	603	0.67726	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	30.59	34	chr5	170718860	.	T	C	30.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.967;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	6	0	1	0
chr5	172339779	172339779	G	T	exonic	SH3PXD2B	.	nonsynonymous SNV	SH3PXD2B:NM_001017995:exon13:c.C1326A:p.H442Q	Frank-ter Haar syndrome, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	296917	Frank-Ter_Haar_syndrome	MONDO:MONDO:0009579,MedGen:C1855305,OMIM:249420,Orphanet:1266,Orphanet:137834	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.006	0.0116670639285	.	.	.	.	.	.	.	.	.	.	.	.	.	rs201324424	7.53e-06	7.524e-06	5.447e-06	9.635e-06	2.521e-05	4.04e-06	2.95e-06	3.85e-06	1.44e-06	0	0	0	2.521e-05	0	0	5.4e-06	3.314e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.318	0.19246	T	0.035	0.20614	B	0.053	0.25678	B	0.891699	0.08683	N	0.956490	1	0.81001	D	0.55	0.14455	N	1.61	0.28391	T	-0.8	0.22078	N	0.056	0.02759	-0.9985	0.30339	T	0.037	0.16116	T	9	0.027749091	0.00916	T	0.011667	0.29526	T	0.006	0.00375	0.282	0.23801	0.0297737177859	0.01360	0.20708658535164598	0.20624	0.139241090205	0.15693	0.249575793743	0.03723	T	0.040722	0.25622	T	-0.418526	0.01748	T	-0.742106	0.03802	T	0.0537000739000651	0.06139	T	0.70393	0.31399	T	0.06076337	0.12507	0.0773951	0.17236	0.06076337	0.12506	0.0773951	0.17236	-1.958	0.03026	T	0.07106111016781802	0.02796	0.092	0.13503	B	.	.	-0.755690	0.01197	0.059	0.58823947037565294	0.06081	0.17227	0.19745	N	AEFDBI	0.156087	0.28139	N	-1.4490794859507	0.02224	0.09797543	-1.54138107084778	0.02036	0.09305622	0.979892986676635	0.30076	0.67177	0.52595	0	0.588015	0.36545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.82	-8.11	0.00953	-1.787000	0.01861	-4.159000	0.02309	-0.103000	0.15852	0.000000	0.06391	0.000000	0.08366	0.645000	0.32557	0.5956:0.0:0.228:0.1764	8.522	0.32445	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	501.44	37	chr5	172339779	.	G	T	501.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.47;DP=226;ExcessHet=0;FS=1.192;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-1.156;SOR=0.973	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1004	6	0	1	0
chr5	173090987	173090987	G	A	exonic	CREBRF	.	nonsynonymous SNV	CREBRF:NM_001168393:exon4:c.G808A:p.V270M,CREBRF:NM_001168394:exon4:c.G808A:p.V270M,CREBRF:NM_153607:exon4:c.G808A:p.V270M	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0106358085425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.094e-05	1.094e-05	1.089e-05	1.1e-05	1.439e-05	6.48e-06	5.24e-06	8.52e-06	6.89e-06	0	0	0	0	0	0	1.439e-05	0	0	6.571e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.087	0.40747	T	0.001	0.11197	B	0.004	0.10090	B	0.016272	0.28022	N	0.397201	0.999894	0.19781	N	0.895	0.22405	L	0.7	0.51474	T	-1.44	0.35399	N	0.389	0.43029	-1.0106	0.26729	T	0.082	0.32411	T	10	0.16748384	0.31246	T	0.010636	0.27409	T	0.058	0.16647	0.623	0.75803	0.216943180021	0.21308	0.2548346590386887	0.25397	0.487470984321	0.47571	0.546388626099	0.45347	T	0.03902	0.25043	T	-0.147642	0.28681	T	-0.449854	0.27713	T	0.559203565120697	0.34825	D	0.887511	0.61533	D	0.045420047	0.07431	0.07956457	0.17924	0.045420047	0.07431	0.07956457	0.17923	-4.698	0.33380	T	.	.	0.089	0.20972	B	.;.;.	.;.;.	3.055184	0.41009	21.3	0.99778069906176314	0.86519	0.84578	0.43661	D	AEFDGBI	0.210586	0.33646	N	-0.422541491857705	0.24681	1.334388	-0.333013480854695	0.27040	1.497653	0.999437704869341	0.39683	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.39	3.56	0.39892	2.901000	0.48393	5.939000	0.51448	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.946000	0.48989	0.0729:0.1367:0.6488:0.1416	5.893	0.18167	961	0.08552	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	472.44	33	chr5	173090987	.	G	A	472.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.213;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-2.3;SOR=0.573	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1109	6	0	1	0
chr5	176584197	176584197	A	G	exonic	CDHR2	.	nonsynonymous SNV	CDHR2:NM_001171976:exon18:c.A2066G:p.N689S,CDHR2:NM_017675:exon18:c.A2066G:p.N689S	.	401	1114	7	0	0	7	0.00313199	.	.	.	2825584	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.728	0.65267260034	0.0064	0.00259585	0.0050	0.0017	0.0015	0.0001	0.0047	0.0073	0.0077	0.0027	0.0052263	808	154602	rs115353627	0.0073	0.0073	0.0074	0.0072	0.0083	0.0072	0.0071	0.0081	0.0081	0.0008	0.0023	0.0124	0	0.0058	0.0016	0.0083	0.0076	0.0030	0.0054	0.0054	0.0055	0.0053	0.0085	0.0051	0.0050	0.0079	0.0077	0.0013	0	0.0031	0.0176	0.0002	0.0055	0.0034	0.0085	0.0047	0.0035	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.987	0.77487	D	.	.	.	.	0.999999	0.58761	D	3.835	0.95663	H	-1.1	0.77336	T	-4.67	0.79571	D	0.77	0.76760	0.728	0.93517	D	0.709	0.90006	D	9	0.01767373	0.00379	T	0.652673	0.97064	D	0.728	0.90457	.	.	0.893520390444	0.89247	0.6041077260653706	0.60341	0.570378327537	0.53198	0.515768349171	0.41031	T	0.236927	0.60451	T	-0.235299	0.15955	T	-0.102806	0.63180	T	0.056728599685366	0.06644	T	0.862314	0.55722	D	0.47362316	0.65512	0.62378675	0.78075	0.47362316	0.65513	0.62378675	0.78076	-13.879	0.92657	D	.	.	0.329	0.55971	B	.;.;.	.;.;.	4.911248	0.80804	27.4	0.99869506075437298	0.94726	0.99278	0.93852	D	AEFBI	0.844926	0.76186	D	0.874277547051944	0.90444	10.40666	0.734198617634022	0.84971	8.443795	0.999735047433298	0.42341	0.497415	0.19182	0	0.547309	0.14657	0	0.59043	0.30614	0	0.613276	0.41899	0	.	.	5.69	5.69	0.88346	6.732000	0.74596	11.196000	0.88846	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.498000	0.28972	1.0:0.0:0.0:0.0	14.794	0.69490	373	0.84140	Cadherin conserved site|Cadherin-like;Cadherin conserved site|Cadherin-like;Cadherin conserved site|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	1229.46	33	chr5	176584197	.	A	G	1229.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.19;DP=270;ExcessHet=0;FS=3.809;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=2.78;SOR=0.463	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1079	6	0	1	0
chr5	176598145	176598145	A	T	exonic	GPRIN1	.	nonsynonymous SNV	GPRIN1:NM_052899:exon2:c.T1690A:p.S564T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00491868142636	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1168530691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.579e-06	6.568e-06	0	1.347e-05	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.437	0.09346	T	0.302	0.20228	T	0.017	0.17573	B	0.005	0.11217	B	0.584881	0.11107	N	0.734869	1	0.08975	N	1.545	0.39105	L	2.85	0.10578	T	-1.33	0.33197	N	0.04	0.01347	-0.9197	0.45594	T	0.017	0.06950	T	10	0.04877752	0.04375	T	0.004919	0.12380	T	0.009	0.00846	0.271	0.22052	0.138757226776	0.13463	0.045962810550253905	0.04540	.	.	0.262757539749	0.05222	T	0.003057	0.02453	T	-0.395144	0.02491	T	-0.805373	0.01772	T	0.0216990323890352	0.00876	T	0.260974	0.04194	T	0.03186223	0.03105	0.038916815	0.03866	0.03186223	0.03104	0.038916815	0.03865	-4.939	0.36171	T	.	.	0.084	0.09627	B	.	.	-0.057319	0.03902	0.858	0.81001746972800859	0.13472	0.04231	0.09751	N	AEFDBI	0.077952	0.15716	N	-1.22005469891017	0.04710	0.21314	-1.29115986368317	0.04549	0.2148331	0.980248340969972	0.30114	0.712529	0.81865	0	0.633656	0.55848	0	0.635938	0.45252	0	0.699875	0.68795	0	.	.	4.29	-2.36	0.06282	-1.062000	0.03579	0.684000	0.20706	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.6518:0.0:0.2134:0.1348	5.060	0.13887	374	0.84073	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2821.44	42	chr5	176598145	.	A	T	2821.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.061;DP=504;ExcessHet=0;FS=0.522;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-1.255;SOR=0.622	GT:AD:DP:GQ:PL	0/1:97,107:204:99:2832,0,2389	6	0	1	0
chr5	176889690	176889690	C	T	exonic	HK3	.	nonsynonymous SNV	HK3:NM_002115:exon7:c.G685A:p.G229S	.	402	1115	5	0	0	5	0.00223714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.139327893959	0.0002	0.000998403	0.0005	0.0003	8.642e-05	0	0.0002	0.0005	0	0.0016	0.0004657	72	154602	rs150811542	0.0006	0.0006	0.0005	0.0006	0.0029	0.0005	0.0005	0.0019	0.0018	8.961e-05	8.944e-05	0	0	0.0002	0.0029	0.0005	0.0007	0.0021	0.0003	0.0003	0.0003	0.0004	0.0017	0.0003	0.0002	0.0008	0.0006	0.0001	0	0.0001	0	0	0.0002	0	0.0005	0.0005	0.0017	1.0	0.00964	T	0.38	0.15988	T	0.014	0.16867	B	0.015	0.17295	B	0.000767	0.41888	D	0.108055	0.964984	0.38440	D	-1.305	0.00708	N	-5.12	0.98731	D	1.14	0.01166	N	0.152	0.15609	0.093	0.84040	D	0.615	0.86376	D	10	0.016960025	0.00360	T	0.139328	0.82181	D	0.336	0.65816	.	.	0.911562725633	0.91067	0.5657865727070821	0.56506	0.120693345613	0.13590	0.442217677832	0.30881	T	0.115625	0.43436	T	-0.266717	0.12126	T	-0.16316	0.58067	T	0.0158107012569474	0.00369	T	0.884712	0.60854	D	0.047398232	0.08094	0.08003579	0.18069	0.047398232	0.08094	0.08003579	0.18069	0.88	0.00148	T	.	.	0.102	0.17869	B	.	.	3.325488	0.45760	22.2	0.49007671872478631	0.04137	0.55554	0.29893	D	AEFGBI	0.180607	0.30792	N	-0.54841216727069	0.20534	1.083148	-0.281971400128015	0.28692	1.60171	0.99971189219022	0.42101	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.71	3.7	0.41607	4.612000	0.60873	2.699000	0.34147	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.0:0.5606:0.0:0.4394	4.404	0.10830	551	0.72115	Hexokinase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.007576	0.07143	1783.46	33	chr5	176889690	.	C	T	1783.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.938;DP=343;ExcessHet=0;FS=1.363;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-1.076;SOR=0.876	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr5	176896096	176896096	C	G	exonic	HK3	.	nonsynonymous SNV	HK3:NM_002115:exon2:c.G64C:p.G22R	.	425	1094	2	1	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.050555579138	0.0006	0.000199681	0.0006	0	0.0003	0	0.0002	0.0008	0	0.0005	0.0005304	82	154602	rs201418082	0.0005	0.0005	0.0005	0.0005	0.0021	0.0004	0.0004	0.0012	0.0009	0	0.0006	0.0054	0	3.744e-05	0.0021	0.0004	0.0006	0.0005	0.0004	0.0004	0.0004	0.0005	0.0007	0.0004	0.0003	0.0004	0.0003	9.625e-05	0	0.0007	0.0055	0	0	0.0034	0.0004	0.0009	0.0004	0.005	0.63226	D	0.003	0.76473	D	0.706	0.42003	P	0.294	0.40804	B	0.043315	0.23752	N	0.211546	1	0.08975	N	0.55	0.14455	N	-4.63	0.97902	D	-0.14	0.09135	N	0.337	0.37820	0.245	0.86663	D	0.761	0.91862	D	10	0.006638795	0.00150	T	0.050556	0.64291	D	0.241	0.54641	.	.	0.851315264002	0.84988	0.46432178357590964	0.46351	0.205290401865	0.22950	0.309876739979	0.11889	T	0.053245	0.29389	T	-0.180754	0.23625	T	-0.138836	0.60219	T	0.015969632493224	0.00379	T	0.748625	0.36937	T	0.10052545	0.23737	0.10466212	0.25142	0.10052545	0.23737	0.10466212	0.25142	-4.398	0.29530	T	.	.	0.099	0.16886	B	.	.	1.521710	0.19533	14.31	0.9805506315314636	0.37897	0.08065	0.14038	N	AEFDBHCI	0.089402	0.18121	N	-0.665448381877779	0.17012	0.8717984	-0.788548299149569	0.14775	0.7738248	0.999997874999774	0.74766	0.569682	0.32691	0	0.59043	0.45803	0	0.573078	0.19857	0	0.567339	0.31927	0	.	.	3.56	1.73	0.23565	0.113000	0.15333	1.052000	0.23646	0.599000	0.40250	0.003000	0.16062	0.001000	0.17328	0.025000	0.12405	0.0:0.6571:0.221:0.1219	4.845	0.12869	597	0.68309	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	850.45	34	chr5	176896096	.	C	G	850.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.558;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=0.58;SOR=0.806	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	6	0	1	0
chr5	177525022	177525022	G	A	exonic	FAM193B	.	nonsynonymous SNV	FAM193B:NM_001190946:exon6:c.C1459T:p.R487C,FAM193B:NM_001366500:exon7:c.C1360T:p.R454C,FAM193B:NM_001366499:exon8:c.C337T:p.R113C,FAM193B:NM_001366498:exon9:c.C337T:p.R113C	.	425	1092	5	0	0	5	0.00228415	.	.	.	2239818	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.043	0.0261079046621	0.0002	.	9.888e-05	0	0	0	0	0.0002	0	0	0.00011	17	154602	rs201707860	0.0002	0.0002	0.0002	0.0002	0.0009	0.0001	0.0001	0.0004	0.0002	0	0	0	5.218e-05	0	0.0009	0.0002	0.0002	0	9.198e-05	9.193e-05	7.708e-05	0.0001	0.0001	5.527e-05	4.364e-05	7.908e-05	5.993e-05	4.826e-05	0	0	0	0	0	0	0.0001	0.0010	0	0.169	0.22920	T	0.191	0.28391	T	.	.	.	.	.	.	0.000038	0.55875	N	0.160787	1	0.81001	D	.	.	.	0.21	0.59983	T	-5.06	0.82764	D	0.278	0.31478	-1.0653	0.10479	T	0.109	0.39462	T	10	0.10175288	0.18609	T	0.026108	0.49041	D	0.118	0.32913	.	.	0.082315109003	0.07666	0.1864460080566611	0.18562	0.241736050565	0.26693	0.258089184761	0.04666	T	.	.	.	-0.248302	0.14307	T	-0.320146	0.42559	T	0.191497173073472	0.19932	T	0.887111	0.61484	D	.	.	.	.	.	.	.	.	-9.131	0.68536	D	.	.	0.103	0.18580	B	.	.	3.532686	0.49572	22.8	0.97939397727725042	0.37021	0.92868	0.56743	D	AEFGBI	0.305497	0.41290	N	-0.331472290762997	0.27959	1.538199	-0.191885508468155	0.31834	1.805298	0.99768086202542	0.35903	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.75	1.89	0.24700	2.377000	0.43955	4.404000	0.43258	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2993:0.0:0.5658:0.1349	4.920	0.13216	867	0.32089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1381.45	36	chr5	177525022	.	G	A	1381.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.506;DP=323;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=0.225;SOR=0.638	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1620	6	0	1	0
chr5	178149816	178149816	G	C	exonic	NHP2	.	nonsynonymous SNV	NHP2:NM_001034833:exon3:c.C253G:p.P85A,NHP2:NM_017838:exon4:c.C359G:p.S120C	Dyskeratosis congenita, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.0324217931992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.004	0.74150	D	0.983	0.60381	D	0.823	0.59197	P	0.000002	0.62929	D	0.103877	0.868066	0.81001	D	.	.	.	0.35	0.58029	T	-1.56	0.37759	N	0.811	0.80669	-0.3362	0.73953	T	0.290	0.66201	T	9	0.7681256	0.76866	D	0.032422	0.54249	D	0.369	0.68844	0.487	0.57098	0.774303064417	0.77222	0.5758495358045932	0.57513	0.477938957657	0.46890	0.689032554626	0.65567	T	0.157353	0.49991	T	0.00928723	0.52927	T	-0.224436	0.52309	T	0.989259362220764	0.79502	D	0.89671	0.63922	D	0.44775474	0.63899	0.34156662	0.59894	0.44775474	0.63900	0.34156662	0.59894	-7.605	0.58346	D	.	.	0.627	0.69991	P	.	.	4.273131	0.65030	24.8	0.98937248787920129	0.48864	0.98514	0.83591	D	AEFBHCI	0.941082	0.94389	D	0.754531245538184	0.83201	7.955372	0.772388842810199	0.87816	9.355006	1.0	0.98316	0.78354	0.99714	0	0.696144	0.67643	0	0.827368	0.99476	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	9.900000	0.98620	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	16.417	0.83583	929	0.16858	Ribosomal protein L7Ae/L30e/S12e/Gadd45	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	319.44	35	chr5	178149816	.	G	C	319.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.407;DP=231;ExcessHet=0;FS=1.13;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.39;ReadPosRankSum=2.4;SOR=0.484	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1277	6	0	1	0
chr5	178931836	178931836	G	A	exonic	ZFP2	.	nonsynonymous SNV	ZFP2:NM_030613:exon5:c.G523A:p.V175I	.	.	.	.	.	.	.	.	.	.	.	3937616	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.097	0.00150524193955	.	.	5.786e-05	0	0.0003	0	0	3.006e-05	0	6.076e-05	4.53e-05	7	154602	rs746884918	1.78e-05	1.779e-05	1.771e-05	1.79e-05	0.0003	1.239e-05	1.052e-05	0.0002	0.0002	2.988e-05	0.0003	0	0	0	0	4.501e-06	1.657e-05	5.801e-05	1.314e-05	1.313e-05	0	2.687e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.288	0.15098	T	0.274	0.22084	T	0.989	0.62824	D	0.707	0.54387	P	0.011266	0.29595	N	0.000000	1	0.08975	N	0.29	0.10111	N	3.18	0.07478	T	-0.84	0.22944	N	0.065	0.04307	-1.0057	0.28247	T	0.016	0.06425	T	10	0.090021044	0.15645	T	0.001505	0.02318	T	0.097	0.27909	0.21	0.12781	0.0716867268079	0.06686	0.03919871252946278	0.03865	0.030913611197	0.03200	0.474007517099	0.35232	T	0.021125	0.16509	T	-0.616527	0.00115	T	-0.801409	0.01867	T	0.0976391658186913	0.12096	T	0.169883	0.01597	T	0.029484177	0.02450	0.027376285	0.00886	0.029484177	0.02450	0.027376285	0.00885	-6.037	0.46588	T	.	.	0.111	0.23290	B	.;.;.	.;.;.	1.823835	0.23175	15.91	0.92163635641590935	0.21526	0.00067	0.00479	N	AEFDBHCI	0.061341	0.11720	N	-0.409619441301373	0.25131	1.361978	-0.467796063313564	0.23046	1.254823	0.00266809506112608	0.09616	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.7	1.83	0.24279	-0.744000	0.04945	0.895000	0.22503	-0.283000	0.06393	0.000000	0.06391	0.000000	0.08366	0.215000	0.22324	0.1908:0.1654:0.4729:0.1709	1.496	0.02319	872	0.31118	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1398.53	38	chr5	178931836	.	G	A	1398.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.185;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.9;ReadPosRankSum=-0.849;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,114,1205:.	6	0	1	0
chr5	179724669	179724669	G	A	exonic	CANX	.	nonsynonymous SNV	CANX:NM_001364001:exon11:c.G1207A:p.G403S,CANX:NM_001364000:exon12:c.G1207A:p.G403S,CANX:NM_001024649:exon13:c.G1531A:p.G511S,CANX:NM_001363994:exon13:c.G1636A:p.G546S,CANX:NM_001363996:exon13:c.G1531A:p.G511S,CANX:NM_001363997:exon13:c.G1531A:p.G511S,CANX:NM_001363998:exon13:c.G1531A:p.G511S,CANX:NM_001363999:exon13:c.G1525A:p.G509S,CANX:NM_001746:exon13:c.G1531A:p.G511S,CANX:NM_001363993:exon14:c.G1693A:p.G565S,CANX:NM_001363995:exon14:c.G1633A:p.G545S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00610107715806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	0	4.126e-06	1.16e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.722	0.03903	T	0.733	0.05109	T	0.002	0.09854	B	0.01	0.14941	B	0.000003	0.62929	D	0.103647	0.999953	0.19363	N	-0.14	0.04484	N	0.85	0.47130	T	0.85	0.01736	N	0.172	0.18376	-1.0337	0.19268	T	0.059	0.24649	T	10	0.07754511	0.12250	T	0.006101	0.15964	T	0.063	0.18251	0.127	0.03251	0.21174354426	0.20776	0.33978558168835804	0.33891	0.301218559738	0.32469	0.3299716115	0.14930	T	0.244421	0.61354	T	-0.270967	0.11649	T	-0.627002	0.10643	T	0.383413046598434	0.28314	T	.	.	.	0.021023205	0.00684	0.054093476	0.09240	0.021023205	0.00684	0.054093476	0.09240	-2.398	0.05120	T	.	.	0.080	0.07745	B	.;.;.	.;.;.	2.509249	0.32405	19.03	0.6021555259219723	0.06410	0.96744	0.70707	D	AEFBI	0.852499	0.76941	D	-0.598350888523037	0.18995	0.9906816	-0.371974325768095	0.25835	1.423288	0.999881092562388	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.83	4.04	0.46262	4.548000	0.60429	3.345000	0.37739	-0.154000	0.11915	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.1802:0.7009:0.1189	11.045	0.47070	819	0.41190	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	367.83	34	chr5	179724669	.	G	A	367.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.877;DP=207;ExcessHet=0;FS=2.528;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.94;ReadPosRankSum=0.143;SOR=0.993	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,967	6	0	1	0
chr5	179841995	179841995	C	T	exonic	MRNIP	.	nonsynonymous SNV	MRNIP:NM_001017987:exon3:c.G196A:p.E66K,MRNIP:NM_016175:exon5:c.G361A:p.E121K	.	424	1085	13	0	0	13	0.00595511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00248228046425	0.0019	0.00199681	0.0018	0.0002	0.0038	0	0.0006	0.0023	0.0022	0.0008	0.0017723	274	154602	rs141029325	0.0021	0.0021	0.0020	0.0021	0.0046	0.0020	0.0020	0.0041	0.0039	0.0004	0.0046	0.0027	0	0.0005	0.0029	0.0022	0.0027	0.0006	0.0019	0.0019	0.0019	0.0019	0.0047	0.0017	0.0017	0.0038	0.0035	0.0004	0	0.0047	0.0023	0	9.414e-05	0.0136	0.0026	0.0061	0.0008	0.15	0.31532	T	0.092	0.45961	T	0.487	0.36886	P	0.189	0.36295	B	0.187126	0.16945	N	0.479035	0.999847	0.28504	N	.	.	.	2.01	0.21291	T	-2.13	0.49018	N	0.113	0.18649	-1.0636	0.10878	T	0.035	0.15247	T	10	0.0032820702	0.00056	T	0.002482	0.04925	T	0.025	0.05312	.	.	0.117506650769	0.11410	0.19206551277699987	0.19124	0.191156484107	0.21440	.	.	.	0.023633	0.19659	T	-0.510048	0.00502	T	-0.505295	0.21799	T	0.00986036162135999	0.00130	T	.	.	.	0.08022231	0.18369	0.07656596	0.16970	0.08022231	0.18369	0.07656596	0.16970	-4.801	0.51592	T	.	.	0.090	0.24363	B	.;.;.;.;.	.;.;.;.;.	1.478234	0.19034	14.05	0.9978321987986617	0.86955	0.13473	0.17875	N	AEFDBCI	0.059262	0.11180	N	-0.535915449413437	0.20928	1.106873	-0.593853277252853	0.19652	1.055378	0.993907142872642	0.33404	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.645665	0.59343	0	.	.	4.09	2.29	0.27658	0.805000	0.26772	0.665000	0.20538	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.596000	0.31288	0.0:0.7801:0.0:0.2199	7.023	0.24105	923	0.18507	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004028	0.005051	0.004076	0.000000	0.000000	0.000000	0.012195	0.000000	0.07143	747.56	34	chr5	179841995	.	C	T	747.56	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.079;DP=254;ExcessHet=0;FS=3.208;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-0.184;SOR=0.881	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1267	6	0	1	0
chr5	179871491	179871491	C	T	exonic	TBC1D9B	.	nonsynonymous SNV	TBC1D9B:NM_015043:exon15:c.G2455A:p.E819K,TBC1D9B:NM_198868:exon15:c.G2455A:p.E819K	.	427	1082	13	0	0	13	0.00597152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.421	0.14749190218	0.0029	0.00179712	0.0025	0.0007	0.0041	0	0.0014	0.0033	0.0048	0.0011	0.0024126	373	154602	rs11545788	0.0030	0.0030	0.0029	0.0030	0.0046	0.0029	0.0029	0.0041	0.0039	0.0005	0.0046	0.0028	0	0.0011	0.0033	0.0033	0.0036	0.0007	0.0026	0.0026	0.0027	0.0024	0.0052	0.0024	0.0023	0.0043	0.0040	0.0006	0	0.0052	0.0032	0	0.0006	0.0136	0.0036	0.0062	0.0010	0.029	0.45756	D	0.023	0.57104	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.68	0.78455	M	0.24	0.59583	T	-2.44	0.53420	N	0.887	0.89912	0.000	0.82260	D	0.451	0.78491	T	10	0.024316132	0.00664	T	0.147492	0.82951	D	0.421	0.73005	.	.	0.823900764698	0.82224	0.8541258143191381	0.85375	0.601515710117	0.55188	0.641480147839	0.58774	T	0.188192	0.54204	T	-0.00788134	0.50561	T	0.216032	0.83975	D	0.0375358466095308	0.03249	T	.	.	.	0.42709103	0.62562	0.25782573	0.51505	0.42709103	0.62562	0.25782573	0.51504	-9.473	0.70691	D	.	.	0.462	0.64472	A	.;.	.;.	5.500369	0.91576	32	0.99936840120353554	0.99661	0.99305	0.94239	D	AEFDBI	0.764863	0.70153	D	0.818500538244239	0.87249	9.152933	0.767962292890352	0.87493	9.240847	0.999999999995591	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.22	5.22	0.72285	6.014000	0.70438	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:1.0:0.0:0.0	18.778	0.91885	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.010101	0.004076	0.000000	0.000000	0.000000	0.012195	0.000000	0.08333	369.27	40	chr5	179871491	.	C	T	369.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.795;DP=214;ExcessHet=0;FS=1.317;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-0.19;SOR=0.976	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	5	0	1	1
chr5	179893359	179893359	G	C	exonic	TBC1D9B	.	nonsynonymous SNV	TBC1D9B:NM_015043:exon5:c.C686G:p.S229C,TBC1D9B:NM_198868:exon5:c.C686G:p.S229C	.	426	1079	17	0	0	17	0.00781609	.	.	.	2825638	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.610	.	0.0045	0.00139776	0.0049	0.0008	0.0052	0	0.0107	0.0066	0.0033	0.0008	0.0012548	194	154602	rs139809387	0.0063	0.0063	0.0065	0.0061	0.0072	0.0062	0.0061	0.0070	0.0070	0.0010	0.0047	0.0018	0	0.0096	0.0035	0.0072	0.0053	0.0010	0.0045	0.0045	0.0044	0.0046	0.0064	0.0042	0.0041	0.0059	0.0057	0.0013	0	0.0025	0.0020	0	0.0135	0	0.0064	0.0019	0.0017	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.765	0.80766	M	2.84	0.11515	T	-4.41	0.77391	D	0.889	0.88798	-1.0186	0.24171	T	0.072	0.29098	T	10	0.024248451	0.00661	T	.	.	.	0.610	0.84719	.	.	0.639847762547	0.63687	0.8677550484405777	0.86740	0.757533882034	0.64076	0.731003046036	0.71652	T	0.392613	0.75224	T	-0.188367	0.22498	T	-0.0359618	0.67971	D	0.0212403679310026	0.00826	T	.	.	.	0.621704	0.73855	0.47692066	0.69694	0.621704	0.73856	0.47692066	0.69694	-10.96	0.79499	D	.	.	0.573	0.74072	P	.;.	.;.	5.066482	0.84472	28.3	0.99214046058140548	0.55685	0.99641	0.98258	D	AEFDBI	0.939111	0.93927	D	0.811204734519189	0.86804	9.003738	0.750885099411998	0.86223	8.821129	0.999999999524504	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.57	4.57	0.55860	9.904000	0.98639	11.751000	0.95409	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	17.523	0.87688	884	0.28482	.;GRAM domain|TCB1D9/TCB1D9B, PH-GRAM domain 1	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.002924	0.050000	0.000000	0.000000	0.003788	0.07143	794.49	35	chr5	179893359	.	G	C	794.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.14;DP=254;ExcessHet=0;FS=6.074;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=1.12;SOR=1.408	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1116	6	0	1	0
chr5	180611422	180611422	A	T	exonic	FLT4	.	nonsynonymous SNV	FLT4:NM_001354989:exon27:c.T3595A:p.F1199I,FLT4:NM_002020:exon27:c.T3595A:p.F1199I,FLT4:NM_182925:exon27:c.T3595A:p.F1199I	Hemangioma, capillary infantile, somatic;Lymphedema, hereditary, IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.410	0.151621123721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	0.34621	T	0.335	0.18286	T	0.985	0.61118	D	0.758	0.56327	P	.	.	.	.	0.999999	0.58761	D	2.69	0.78713	M	-1.07	0.76948	T	-2.37	0.52289	N	0.45	0.49420	-0.5704	0.65999	T	0.302	0.67334	T	9	0.30857718	0.48352	T	0.151621	0.83315	D	0.410	0.72176	0.161	0.06507	0.714075337154	0.71157	0.3816046466554991	0.38075	0.605846916778	0.55455	0.527414381504	0.42671	T	0.31174	0.68360	T	0.14775	0.69056	D	-0.0255439	0.68664	D	0.842443346977234	0.49528	D	0.70423	0.31438	T	0.15744634	0.35477	0.15398079	0.36159	0.15744634	0.35476	0.15398079	0.36158	-3.515	0.16642	T	0.22981432521615835	0.31090	0.102	0.18122	B	.;.;.	.;.;.	4.016762	0.59292	24.1	0.98807894804291618	0.46574	0.98078	0.79411	D	AEFDGBHI	0.764859	0.70152	D	0.0932769309837809	0.46149	2.859814	0.150385535439532	0.47162	2.950638	0.999999999999976	0.74766	0.656854	0.48797	0	0.588066	0.40923	0	0.779548	0.98927	0	0.699908	0.69081	0	.	.	4.48	4.48	0.53973	5.534000	0.66879	7.840000	0.70487	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.328000	0.25156	1.0:0.0:0.0:0.0	12.802	0.56972	900	0.24599	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	220.27	38	chr5	180611422	.	A	T	220.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.083;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.34;ReadPosRankSum=0.904;SOR=0.892	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1114	5	0	1	1
chr5	180899326	180899326	A	G	exonic	BTNL8	.	nonsynonymous SNV	BTNL8:NM_001040462:exon1:c.A16G:p.S6G,BTNL8:NM_001159707:exon1:c.A16G:p.S6G,BTNL8:NM_001159708:exon1:c.A16G:p.S6G,BTNL8:NM_024850:exon1:c.A16G:p.S6G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00788339896638	0.0033	0.00259585	0.0011	0.0092	8.637e-05	0	0	1.498e-05	0	0.0018	0.0009638	149	154602	rs138728915	0.0004	0.0004	0.0003	0.0004	0.0082	0.0004	0.0003	0.0074	0.0071	0.0082	0.0002	0	7.557e-05	0	0.0002	8.993e-07	0.0007	0.0026	0.0026	0.0026	0.0027	0.0024	0.0088	0.0023	0.0023	0.0080	0.0077	0.0088	0	0.0005	0	0.0004	0	0	0	0.0019	0.0023	0.205	0.53172	T	0.027	0.59732	D	0.032	0.20242	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	4.83	0.53516	T	-1.71	0.40660	N	0.217	0.24260	-1.0454	0.15709	T	0.041	0.17657	T	9	0.0050141215	0.00108	T	0.007883	0.20903	T	0.034	0.08419	.	.	0.406257615169	0.40241	0.10017548980057972	0.09948	0.127101656324	0.14323	0.305932223797	0.11292	T	0.010716	0.09649	T	-0.54903	0.00296	T	-0.554171	0.16926	T	0.00175976799577112	0.00018	T	0.254275	0.03911	T	0.088545464	0.20660	0.07663642	0.16992	0.088545464	0.20660	0.07663642	0.16992	-3.837	0.28107	T	.	.	0.080	0.19194	B	.;.;.;.	.;.;.;.	1.050422	0.14316	10.89	0.44373196069599619	0.03407	0.00698	0.02970	N	AEFBI	0.062001	0.11892	N	-1.29658374824001	0.03717	0.1665174	-1.34252504050891	0.03895	0.1826121	3.60152441936867E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.7	-0.255	0.12346	0.266000	0.18300	0.308000	0.17052	-0.235000	0.07621	0.000000	0.06391	0.000000	0.08366	0.350000	0.25659	0.5446:0.2824:0.173:0.0	2.607	0.04585	923	0.18507	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1223.63	36	chr5	180899326	.	A	G	1223.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.535;DP=309;ExcessHet=0;FS=2.225;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=0.715;SOR=0.827	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr5	180992855	180992855	T	C	exonic	BTNL3	.	nonsynonymous SNV	BTNL3:NM_197975:exon2:c.T92C:p.L31S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.243631025505	.	0.00139776	0.0012	0	0	0	0	3.338e-05	0.0012	0.0078	0.0009056	140	154602	rs559737636	0.0006	0.0006	0.0004	0.0008	0.0078	0.0005	0.0005	0.0073	0.0071	0	0	0	0	0	0.0004	5.704e-05	0.0008	0.0078	0.0002	0.0002	0.0001	0.0003	0.0065	0.0002	0.0001	0.0047	0.0041	0	0	0	0	0	0	0	0	0.0005	0.0065	0.125	0.27310	T	0.203	0.27325	T	0.002	0.09854	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.835	0.48228	L	-0.05	0.63403	T	-2.7	0.57599	D	0.1	0.08227	-0.9796	0.35094	T	0.129	0.43726	T	9	0.016969144	0.00360	T	0.243631	0.88810	D	0.122	0.33800	0.603	0.73466	0.110078149338	0.10416	0.14145442725400093	0.14068	0.60281473935	0.55280	0.297746598721	0.10065	T	0.045471	0.27132	T	-0.341509	0.05284	T	-0.61088	0.11913	T	0.0250129692635128	0.01274	T	0.20048	0.02268	T	0.070476055	0.15526	0.09828181	0.23424	0.070476055	0.15526	0.09828181	0.23424	-5.921	0.45614	T	.	.	0.081	0.08417	B	.	.	-0.637801	0.01471	0.091	0.32007554556600559	0.01833	0.00637	0.02791	N	AEFBI	0.032702	0.03744	N	-1.63913739716653	0.01081	0.04694425	-1.70545877994846	0.01113	0.05004495	1.59600566543224E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.83	-1.57	0.08055	-0.460000	0.06797	-2.857000	0.03290	-3.670000	0.00067	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.3761:0.0:0.6239	7.468	0.26500	.	.	Immunoglobulin V-set domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001056	0.000000	0.000000	0.003125	0.000000	0.000000	0.000000	0.003937	0.07143	668.53	35	chr5	180992855	.	T	C	668.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.432;DP=263;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.96;ReadPosRankSum=0.389;SOR=0.639	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1173	6	0	1	0
chr5	181004434	181004434	G	A	exonic	BTNL3	.	nonsynonymous SNV	BTNL3:NM_197975:exon6:c.G826A:p.G276R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	.	0.000599042	0.0022	0.0007	0	0	0.0026	0.0010	0	0.0118	0.0001153	3	26028	rs556886756	0.0004	0.0003	0.0002	0.0005	0.0048	0.0003	0.0003	0.0044	0.0042	7.318e-05	0	0	2.668e-05	0.0001	0	4.856e-05	0.0004	0.0048	0.0001	0.0001	7.858e-05	0.0002	0.0038	8.364e-05	6.887e-05	0.0024	0.0020	2.454e-05	0	0	0	0	0	0	1.493e-05	0	0.0038	0.844	0.02782	T	0.63	0.07196	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.63	0.15941	N	1.06	0.39781	T	-0.82	0.22508	N	0.073	0.04668	-1.0091	0.27198	T	0.055	0.23224	T	9	0.007852703	0.00178	T	.	.	.	0.041	0.10877	0.693	0.83032	0.151104730317	0.14643	0.15210979271205458	0.15132	0.47314906908	0.46548	0.44649964571	0.31466	T	0.004532	0.03938	T	-0.698292	0.00037	T	-0.775146	0.02603	T	0.00268369203624716	0.00028	T	0.428457	0.11587	T	0.044926405	0.07265	0.05033193	0.07879	0.044926405	0.07265	0.05033193	0.07878	-4.326	0.28540	T	.	.	0.113	0.22208	B	.	.	-0.485859	0.01912	0.160	0.83330789104176639	0.14667	0.00187	0.01088	N	AEFGBI	0.034935	0.04414	N	-1.63733559935317	0.01089	0.04728707	-1.75220313174302	0.00925	0.04138685	0.00112653663116647	0.08250	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.34	-4.68	0.03070	-2.114000	0.01417	-3.802000	0.02527	-0.582000	0.04700	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2576:0.0:0.5373:0.205	4.259	0.10181	.	.	B30.2/SPRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000655	0.000000	0.001397	0.005208	0.000000	0.000000	0.000000	0.000000	0.08333	65.32	6	chr5	181004434	.	G	A	65.32	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.792;DP=47;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=34.83;MQRankSum=0.366;QD=7.26;ReadPosRankSum=0.48;SOR=0.283	GT:AD:DP:GQ:PL	0/0:12,0:12:36:0,36,392	5	0	1	1
chr5	181195354	181195354	G	A	exonic	TRIM7	.	nonsynonymous SNV	TRIM7:NM_203297:exon5:c.C802T:p.R268W,TRIM7:NM_203293:exon7:c.C1348T:p.R450W,TRIM7:NM_203294:exon7:c.C724T:p.R242W,TRIM7:NM_203295:exon7:c.C724T:p.R242W,TRIM7:NM_203296:exon7:c.C724T:p.R242W	.	432	1051	38	1	0	40	0.0186741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	.	0.0036	0.0117812	0.0165	0.0014	0.0309	0.0237	0	0.0074	0.0152	0.0361	0.0080271	1241	154602	rs61751566	0.0060	0.0061	0.0052	0.0068	0.0315	0.0059	0.0058	0.0305	0.0301	0.0008	0.0167	0.0215	0.0114	0.0002	0.0147	0.0033	0.0098	0.0315	0.0052	0.0052	0.0048	0.0057	0.0321	0.0049	0.0048	0.0279	0.0264	0.0014	0.0154	0.0131	0.0170	0.0148	0.0003	0.0136	0.0031	0.0061	0.0321	0.025	0.48642	D	0.017	0.60337	D	1.0	0.90584	D	1.0	0.97372	D	0.000066	0.52346	D	0.000000	0.99971	0.20638	N	1.18	0.29980	L	-0.43	0.69657	T	-2.16	0.48850	N	0.21	0.23758	-0.7029	0.60299	T	0.243	0.61131	T	10	0.0049039125	0.00105	T	.	.	.	0.352	0.67326	.	.	.	.	0.6146241830987929	0.61394	1.70361355796	0.90347	0.636679887772	0.58093	T	0.109151	0.42279	T	-0.401669	0.02258	T	-0.325371	0.41983	T	0.0562181223179985	0.06560	T	0.884412	0.60756	D	0.0585932	0.11805	0.084190056	0.19349	0.0585932	0.11804	0.084190056	0.19349	-8.731	0.67788	D	.	.	0.349	0.65506	A	.;.;.;.	.;.;.;.	3.155350	0.42731	21.6	0.99636088301373116	0.76326	0.07290	0.13312	N	AEFDGBI	0.373871	0.45898	N	-0.626117239998297	0.18163	0.9407484	-0.817992306727555	0.14060	0.7326963	0.999906244961365	0.45458	0.554377	0.28877	0	0.588066	0.40923	0	0.596394	0.31383	0	0.567892	0.33627	0	.	.	4.79	0.698	0.17247	0.309000	0.19094	1.546000	0.27261	-1.131000	0.01456	0.000000	0.06391	0.941000	0.28781	0.074000	0.16894	0.0:0.0:0.3805:0.6195	11.825	0.51537	.	.	SPRY domain|B30.2/SPRY domain|SPRY domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012208	0.005263	0.006812	0.020588	0.000000	0.017544	0.003067	0.015267	0.08333	874.27	33	chr5	181195354	.	G	A	874.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.54;DP=225;ExcessHet=0;FS=6.65;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=0.366;SOR=1.504	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1175	5	0	1	1
chr6	1611914	1611914	C	A	exonic	FOXC1	.	nonsynonymous SNV	FOXC1:NM_001453:exon1:c.C1469A:p.A490E	Anterior segment dysgenesis 3, multiple subtypes, Autosomal dominant;Axenfeld-Rieger syndrome, type 3, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.98358284645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.139e-07	6.844e-07	1.409e-06	0	2.775e-05	0	0	.	.	0	0	0	2.775e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.24564	T	0.143	0.33219	T	0.918	0.50838	P	0.433	0.45477	B	0.405390	0.13068	U	0.637592	0.982725	0.24941	N	0.69	0.16971	N	-3.08	0.92560	D	-1.11	0.28703	N	0.397	0.43803	-0.5339	0.67394	T	0.422	0.76677	T	10	0.32343423	0.49680	T	0.983583	0.99920	D	0.262	0.57482	0.377	0.39156	0.954469965546	0.95398	0.38033523269867137	0.37948	.	.	0.889513015747	0.95200	D	0.340527	0.70953	T	0.0447933	0.57671	T	-0.173434	0.57128	T	0.822547078132629	0.47962	D	0.483352	0.14674	T	0.19998324	0.41957	0.27524704	0.53460	0.19998324	0.41957	0.27524704	0.53459	-10.722	0.78111	D	.	.	0.530	0.65903	A	.;.	.;.	3.785177	0.54452	23.5	0.99211160474763704	0.55594	0.64423	0.32402	D	AEFDBHCIJ	0.105881	0.21142	N	-0.106087176274754	0.37127	2.155617	-0.107478813477791	0.35087	2.025861	0.999996476713582	0.74766	0.495885	0.18260	0	0.491552	0.07993	0	0.616487	0.41570	0	0.621717	0.48901	0	.	.	3.25	2.37	0.28337	0.309000	0.19094	7.421000	0.58716	0.446000	0.21189	0.040000	0.20979	1.000000	0.68203	0.900000	0.43643	0.0:0.8003:0.1997:0.0	10.395	0.43380	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	36	chr6	1611914	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,887	6	1	0	0
chr6	2675048	2675048	T	C	exonic	MYLK4	.	nonsynonymous SNV	MYLK4:NM_001012418:exon11:c.A1118G:p.Q373R,MYLK4:NM_001347872:exon11:c.A1286G:p.Q429R	.	438	1083	1	0	0	1	0.000461467	0.9997	0.958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0241290656542	0.0014	0.000199681	0.0007	9.656e-05	0.0003	0.0001	0.0005	0.0011	0.0022	0.0003	0.0007568	117	154602	rs35211631	0.0014	0.0014	0.0014	0.0014	0.0054	0.0014	0.0013	0.0039	0.0034	0.0001	0.0006	0.0001	2.519e-05	0.0001	0.0054	0.0017	0.0011	0.0004	0.0009	0.0009	0.0009	0.0008	0.0014	0.0007	0.0007	0.0011	0.0011	0.0003	0	0.0013	0	0	0	0.0034	0.0014	0.0014	0.0002	0.107	0.29554	T	0.207	0.26969	T	0.018	0.17786	B	0.007	0.12992	B	0.000557	0.43413	D	0.000000	0.677183	0.30311	N	0.425	0.12573	N	-0.24	0.66834	T	-1.49	0.36385	N	0.373	0.41459	-1.0529	0.13601	T	0.082	0.32353	T	10	0.020606875	0.00478	T	0.024129	0.47114	T	0.075	0.21907	.	.	0.362361684037	0.35846	0.49094922170657657	0.49014	0.177192372099	0.19938	0.396849125624	0.24631	T	0.111308	0.42670	T	-0.378673	0.03176	T	-0.357247	0.38371	T	0.0227195487568288	0.00991	T	0.368563	0.08641	T	0.101716965	0.24029	0.1502276	0.35438	0.101716965	0.24029	0.1502276	0.35437	-5.563	0.42453	T	.	.	0.069	0.04558	B	.;.	.;.	4.009017	0.59128	24.1	0.98708840548808185	0.45025	0.88529	0.48499	D	AEFDHCI	0.525812	0.54843	D	-0.198179512784358	0.33209	1.881556	-0.00696447675741855	0.39400	2.335484	0.993658225589343	0.33302	0.553676	0.25195	0	0.610034	0.51514	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.91	5.91	0.95240	3.473000	0.52886	5.105000	0.47467	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.652000	0.32748	0.0:0.0:0.1638:0.8362	10.396	0.43387	854	0.34840	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.011696	0.000000	0.008621	0.000000	0.000000	0.07143	308.49	38	chr6	2675048	.	T	C	308.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.462;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-1.427;SOR=0.498	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1062	6	0	1	0
chr6	2768811	2768811	G	A	exonic	WRNIP1	.	nonsynonymous SNV	WRNIP1:NM_020135:exon2:c.G943A:p.E315K,WRNIP1:NM_130395:exon2:c.G943A:p.E315K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.018334791241	.	.	1.652e-05	9.664e-05	0	0	0	0	0	6.069e-05	1.29e-05	2	154602	rs778889535	1.574e-05	1.642e-05	8.169e-06	2.338e-05	0.0002	1.048e-05	8.75e-06	0.0002	0.0001	2.987e-05	0	0	0	0	0.0002	0	0	0.0002	1.97e-05	1.968e-05	2.569e-05	1.343e-05	0.0004	5.24e-06	2.45e-06	7.293e-05	3.03e-05	2.405e-05	0	0	0	0	0	0	0	0	0.0004	0.06	0.38407	T	0.068	0.45961	T	0.417	0.62824	B	0.472	0.63100	P	0.000000	0.84330	D	0.044577	1	0.81001	D	0.97	0.24054	L	0.92	0.44461	T	-2.94	0.61435	D	0.789	0.80767	-1.1028	0.03768	T	0.070	0.28478	T	10	0.30592105	0.48106	T	0.018335	0.40371	T	0.267	0.58126	0.415	0.45380	0.128874641272	0.12493	0.8162563233491773	0.81581	0.516598376616	0.49541	0.729856848717	0.71484	T	0.669828	0.90188	D	-0.150192	0.28282	T	-0.193838	0.55228	T	0.656405746936798	0.38739	D	0.839616	0.85835	T	0.6533144	0.75541	0.54322004	0.73598	0.6533144	0.75542	0.54322004	0.73598	-16.332	0.98216	D	.	.	0.975	0.91282	P	.;.;.;.	.;.;.;.	5.687545	0.93038	33	0.99918612559408337	0.98586	0.97549	0.75477	D	AEFBI	0.939069	0.93915	D	0.303507170335202	0.56330	3.797375	0.423386500602496	0.63025	4.528369	0.999999999866271	0.74766	0.706298	0.61202	0	0.581341	0.33841	0	0.709663	0.75317	0	0.657601	0.63696	0	.	.	5.54	4.66	0.57857	7.926000	0.87003	11.807000	0.96822	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0746:0.0:0.9254:0.0	13.884	0.63201	842	0.36989	ATPase, AAA-type, core|AAA+ ATPase domain;.;ATPase, AAA-type, core|AAA+ ATPase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	395.53	34	chr6	2768811	.	G	A	395.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.069;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.35;ReadPosRankSum=-1.68;SOR=0.79	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1218	6	0	1	0
chr6	4069381	4069381	G	A	exonic	FAM217A	.	nonsynonymous SNV	FAM217A:NM_173563:exon7:c.C842T:p.T281I	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	.	0.0022	0.00499201	0.0009	0.0086	0.0003	0	0	0.0002	0.0022	0	0.0009444	146	154602	rs142918785	0.0004	0.0004	0.0004	0.0004	0.0105	0.0004	0.0004	0.0096	0.0093	0.0105	0.0005	3.827e-05	0	0	0.0036	8.903e-05	0.0012	4.637e-05	0.0025	0.0025	0.0029	0.0020	0.0082	0.0023	0.0022	0.0075	0.0072	0.0082	0	0.0009	0	0	0	0.0102	0.0002	0.0033	0	0.004	0.65419	D	0.004	0.74150	D	0.202	0.29746	B	0.064	0.27215	B	0.000568	0.43250	D	0.235841	0.999963	0.18878	N	0	0.06538	N	1.96	0.22270	T	-2.5	0.54382	D	0.178	0.19190	-1.0086	0.27354	T	0.010	0.03673	T	10	0.005345732	0.00117	T	.	.	.	0.152	0.39956	.	.	0.101711395817	0.09552	0.13148578197152905	0.13073	0.0421290730492	0.04534	0.322853773832	0.13853	T	0.02034	0.16033	T	-0.488878	0.00659	T	-0.469043	0.25620	T	0.0254730268723136	0.01335	T	0.637636	0.25136	T	0.11077683	0.26181	0.17467298	0.39880	0.11077683	0.26181	0.17467298	0.39880	-3.295	0.13673	T	.	.	0.187	0.40360	B	.;.	.;.	1.693159	0.21574	15.26	0.96026800925595757	0.28491	0.19554	0.20706	N	AEFDHI	0.087252	0.17691	N	-0.878246630375717	0.11361	0.5478677	-0.788896783181168	0.14768	0.7733314	0.999421350458261	0.39630	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.43	3.67	0.41236	0.288000	0.18695	1.643000	0.27803	-0.818000	0.02990	0.598000	0.27730	1.000000	0.68203	0.434000	0.27538	0.0:0.7454:0.1676:0.087	7.535	0.26877	634	0.64659	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.015152	0.019022	0.005848	0.000000	0.017241	0.000000	0.000000	0.07143	927.49	40	chr6	4069381	.	G	A	927.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.753;DP=303;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-0.102;SOR=0.638	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr6	5086404	5086404	C	T	exonic	PPP1R3G	.	nonsynonymous SNV	PPP1R3G:NM_001145115:exon1:c.C919T:p.P307S	.	418	1098	5	1	0	7	0.00317749	.	.	.	2330426	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.377	0.548959300402	.	.	0.0010	0.0008	0	0	0	0.0002	0	0.0017	0.0001035	16	154602	rs747852897	0.0003	0.0003	0.0002	0.0003	0.0039	0.0003	0.0003	0.0026	0.0022	6.333e-05	0.0002	0	0	0	0.0039	0.0002	0.0005	0.0019	0.0002	0.0002	0.0002	0.0001	0.0010	0.0001	8.71e-05	0.0004	0.0003	2.405e-05	0	0	0	0	0	0.0068	0.0002	0.0009	0.0010	0.017	0.51248	D	0.0	0.92824	D	0.992	0.64738	D	0.861	0.61279	P	.	.	.	.	0.998606	0.45151	D	2.69	0.78713	M	-0.01	0.62762	T	-6.11	0.90023	D	0.435	0.47395	-0.4975	0.68740	T	0.267	0.63876	T	9	0.10825947	0.20146	T	0.548959	0.95834	D	0.377	0.69527	.	.	0.163833314356	0.15978	0.4447640364918091	0.44394	.	.	0.644832313061	0.59251	T	0.219117	0.58203	T	-0.370931	0.03547	T	-0.318823	0.42704	T	0.203722417354584	0.20620	T	0.49905	0.15565	T	0.65049857	0.75391	0.60406935	0.76988	0.65049857	0.75392	0.60406935	0.76989	-9.795	0.72675	D	.	.	0.719	0.73751	P	.	.	4.477773	0.69836	25.4	0.99859871157456914	0.93820	0.69303	0.34135	D	AEFDBCI	0.199787	0.32656	N	0.318660494628315	0.57105	3.876831	0.213202669615254	0.50580	3.248483	0.999999781677831	0.74766	0.582742	0.33608	0	0.541168	0.11318	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	4.58	3.7	0.41607	3.838000	0.55532	5.311000	0.48263	0.519000	0.23678	0.993000	0.37899	1.000000	0.68203	0.416000	0.27139	0.0:0.8214:0.1786:0.0	11.720	0.50942	976	0.04745	CBM21 (carbohydrate binding type-21) domain|CBM21 (carbohydrate binding type-21) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002262	0.000000	0.011765	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	732.49	37	chr6	5086404	.	C	T	732.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.481;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=1.66;SOR=0.652	GT:AD:DP:GQ:PL	0/1:24,28:52:99:743,0,603	6	0	1	0
chr6	7590287	7590289	GCG	-	exonic	SNRNP48	.	nonframeshift deletion	SNRNP48:NM_152551:exon1:c.30_32del:p.R13del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.593e-05	0.0002	0.0003	0.0002	0	3.008e-05	0	0	3.84e-05	1	26028	rs761244381	2.048e-05	0.0001	1.757e-05	2.354e-05	8.933e-05	1.405e-05	1.188e-05	2.982e-05	1.802e-05	0	4.766e-05	0	0	2.27e-05	0	1.626e-05	6.142e-05	8.933e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	67.42	35	chr6	7590286	.	AGCG	A	67.42	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.14;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.98;ReadPosRankSum=0.249;SOR=0.473	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	6	0	1	0
chr6	7910637	7910637	-	CCGCCG	exonic	TXNDC5	.	nonframeshift insertion	TXNDC5:NM_030810:exon1:c.139_140insCGGCGG:p.A46_D47insAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs759591654	0.0006	0.0005	0.0006	0.0005	0.0007	0.0005	0.0005	0.0006	0.0006	0.0002	5.353e-05	0	0	3.669e-05	0.0006	0.0007	0.0004	5.826e-05	0.0003	0.0003	0.0004	0.0002	0.0006	0.0002	0.0002	0.0003	0.0003	7.406e-05	0	0.0003	0	0.0006	0	0	0.0004	0.0025	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	606.5	35	chr6	7910637	.	T	TCCGCCG	606.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.85;DP=220;ExcessHet=0;FS=5.278;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.84;ReadPosRankSum=0.121;SOR=1.709	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1134	6	0	1	0
chr6	7910699	7910701	CAG	-	exonic	TXNDC5	.	nonframeshift deletion	TXNDC5:NM_030810:exon1:c.76_78del:p.L26del	.	407	1088	27	0	0	27	0.012256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0212	0.0172	0	.	.	0	0	0.0417	6.5e-06	1	154602	rs775841007	0.0006	0.0059	0.0005	0.0008	0.0063	0.0006	0.0006	0.0044	0.0038	0.0007	0.0063	0.0012	0.0022	0.0033	0.0014	0.0005	0.0008	0.0023	2.708e-05	0.0002	2.641e-05	2.778e-05	6.034e-05	8.33e-06	5.27e-06	2.008e-05	1.148e-05	0	0	0	0	0	0	0	6.034e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056485	0.059322	0.000000	0.051724	0.100000	0.000000	0.057692	0.057692	0.08333	83.23	13	chr6	7910698	.	CCAG	C	83.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.207;DP=165;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.87;ReadPosRankSum=0.698;SOR=0.283	GT:AD:DP:GQ:PL	0/0:34,0:34:93:0,93,1395	5	0	1	1
chr6	11134409	11134409	A	G	exonic	SMIM13	.	nonsynonymous SNV	SMIM13:NM_001135575:exon2:c.A83G:p.Y28C	.	437	1083	2	0	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.312	0.0245276075164	.	.	0.0001	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs752733232	1.073e-05	1.026e-05	5.644e-06	1.595e-05	8.847e-05	6.44e-06	5.11e-06	4.068e-05	2.856e-05	0	0	0	0	0	0	4.636e-06	5.177e-05	8.847e-05	1.315e-05	1.314e-05	0	2.691e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.987	0.77487	D	.	.	.	.	0.992486	0.41658	D	.	.	.	.	.	.	-7.3	0.94484	D	0.74	0.74007	-0.2893	0.75284	T	0.364	0.72483	T	6	0.6808586	0.71270	D	0.024528	0.47518	T	0.312	0.63375	0.329	0.31357	0.212008924253	0.20833	0.8064903326098675	0.80604	.	.	0.79660898447	0.81447	T	0.157166	0.49965	T	0.264612	0.79952	D	0.338623	0.89864	D	0.970610737800598	0.69013	D	.	.	.	0.72941965	0.79691	0.7451262	0.84935	0.72941965	0.79692	0.7451262	0.84936	-2.981	0.09978	T	.	.	0.588	0.68391	P	.	.	4.138655	0.61994	24.4	0.99541272103349288	0.70523	0.94946	0.62882	D	AEBI	0.667797	0.63580	D	0.564928213551716	0.70996	5.584232	0.567553515937648	0.72627	5.839816	0.0877869121857122	0.16043	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	5.463000	0.66445	11.167000	0.87842	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.271	0.73404	802	0.44336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	95.27	24	chr6	11134409	.	A	G	95.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.094;DP=164;ExcessHet=0;FS=2.817;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.94;ReadPosRankSum=0.869;SOR=0.136	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1119	5	0	1	1
chr6	12120516	12120516	A	G	exonic	HIVEP1	.	nonsynonymous SNV	HIVEP1:NM_002114:exon4:c.A721G:p.M241V	.	.	.	.	.	.	.	.	.	.	.	3270439	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.012	0.00341156025232	8.3e-05	.	0.0003	0	8.64e-05	0	0	0.0001	0	0.0014	0.0002264	35	154602	rs367639862	0.0003	0.0003	0.0002	0.0004	0.0021	0.0003	0.0003	0.0018	0.0017	8.961e-05	0.0001	0	0	0	0.0002	0.0002	0.0001	0.0021	0.0002	0.0002	0.0002	0.0002	0.0014	0.0001	0.0001	0.0007	0.0005	2.405e-05	0	0.0001	0	0	0	0	0.0003	0	0.0014	1.0	0.00964	T	0.577	0.08594	T	.	.	.	.	.	.	0.003020	0.00933	N	3.870320	1	0.08975	N	.	.	.	3.11	0.08194	T	-0.11	0.08653	N	0.023	0.00942	-0.9678	0.37652	T	0.003	0.00961	T	9	0.0068871677	0.00156	T	0.003412	0.07664	T	0.012	0.01476	.	.	0.171220215726	0.16700	0.15869073597448372	0.15790	0.0864495979148	0.09759	0.200682848692	0.00477	T	.	.	.	-0.745868	0.00019	T	-0.863179	0.00810	T	0.00237724636758718	0.00025	T	0.483852	0.14720	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00470	B	.;.	.;.	-1.789902	0.00161	0.002	0.25776750548298505	0.01204	0.05584	0.11486	N	AEFGBCI	0.024798	0.01593	N	-1.67203378231138	0.00945	0.04096098	-1.78237334152742	0.00817	0.03649103	0.999999999868675	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	4.96	-9.92	0.00377	-1.227000	0.03060	-1.993000	0.04377	-0.208000	0.08445	0.000000	0.06391	0.000000	0.08366	0.372000	0.26156	0.3928:0.3012:0.1549:0.1511	2.157	0.03582	496	0.76301	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	180.44	79	chr6	12120516	.	A	G	180.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.917;DP=380;ExcessHet=0;FS=2.276;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-1.291;SOR=1.034	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr6	12121542	12121542	C	T	exonic	HIVEP1	.	nonsynonymous SNV	HIVEP1:NM_002114:exon4:c.C1747T:p.P583S	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00557750760506	.	.	4.978e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs759780017	2.257e-05	2.257e-05	1.361e-05	3.163e-05	0.0003	1.61e-05	1.416e-05	0.0002	0.0002	0	0	0	0	0	0	0	4.967e-05	0.0003	1.97e-05	1.969e-05	0	4.031e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.996e-05	0	0	0	0	0	0	0	0	0	0.0006	0.849	0.02746	T	1.0	0.01155	T	.	.	.	.	.	.	0.887047	0.07271	N	1.077220	1	0.08975	N	.	.	.	3.17	0.07599	T	-1.11	0.28703	N	0.023	0.00407	-0.8995	0.48044	T	0.002	0.00769	T	9	0.017237097	0.00367	T	0.005578	0.14409	T	0.015	0.02232	0.215	0.13498	0.128874641272	0.12493	0.13453968788721568	0.13377	0.0865646360394	0.09771	0.215969160199	0.01090	T	.	.	.	-0.639011	0.00084	T	-0.855348	0.00895	T	0.0137178093017026	0.00256	T	0.656534	0.26618	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.01622	B	.;.	.;.	-0.654666	0.01430	0.085	0.28638855233853289	0.01480	0.11015	0.16349	N	AEFGBCI	0.035619	0.04615	N	-1.63663533069527	0.01092	0.04742133	-1.69806955789732	0.01146	0.05153993	0.999999128286	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.575934	0.27490	0	0.714379	0.83352	0	.	.	5.78	-9.37	0.00530	-0.166000	0.09943	-0.668000	0.07948	-0.313000	0.06017	0.000000	0.06391	0.000000	0.08366	0.412000	0.27050	0.0:0.308:0.3157:0.3763	8.876	0.34501	495	0.76383	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2273.45	79	chr6	12121542	.	C	T	2273.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.74;DP=539;ExcessHet=0;FS=3.257;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=0.765;SOR=0.921	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr6	13470573	13470573	-	T	exonic	GFOD1	.	frameshift insertion	GFOD1:NM_001242629:exon2:c.310dupA:p.M104Nfs*48	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.0024	0.0147	0	0	0.0029	0.0122	0.0040	0.0001153	3	26028	rs758529514	0.0008	0.0039	0.0007	0.0008	0.0016	0.0007	0.0007	0.0012	0.0011	0.0005	0.0016	0.0004	0.0007	0.0004	0.0002	0.0008	0.0007	0.0006	0.0002	0.0003	0.0002	0.0003	0.0003	0.0002	0.0001	0.0002	0.0002	0.0001	0	0.0002	0	0	9.643e-05	0	0.0003	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	41.18	35	chr6	13470573	.	A	AT	41.18	.	AC=2;AF=0.143;AN=14;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=20.59;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1087	6	1	0	0
chr6	17600893	17600923	GCGGCGCCGCCGCCCCCGCAGCTGGGCTATT	-	exonic	FAM8A1	.	frameshift deletion	FAM8A1:NM_016255:exon1:c.484_514del:p.A162Tfs*7	.	417	1094	7	0	4	11	0.00318907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.17e-05	8	154602	rs1465384671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	106.79	34	chr6	17600892	.	CGCGGCGCCGCCGCCCCCGCAGCTGGGCTATT	C	106.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.96;DP=285;ExcessHet=0;FS=11.237;MLEAC=1;MLEAF=0.071;MQ=59.34;MQRankSum=-6.299;QD=1.11;ReadPosRankSum=-0.881;SOR=2.037	GT:AD:DP:GQ:PL	0/1:87,9:96:99:117,0,3622	6	0	1	0
chr6	17606014	17606014	-	AGC	splicing	FAM8A1	NM_016255:exon4:c.1097+1->AGC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.229e-05	0.0008	8.557e-06	1.614e-05	0.0001	7.49e-06	6.12e-06	3.626e-05	2.201e-05	0	2.572e-05	8.267e-05	0.0001	0	0	7.531e-06	1.771e-05	1.315e-05	5.976e-05	0.0021	6.494e-05	5.434e-05	0.0002	3.107e-05	2.231e-05	5.349e-05	2.852e-05	2.42e-05	0	0.0002	0	0	0.0003	0	2.975e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	54.4	33	chr6	17606014	.	G	GAGC	54.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.619;DP=221;ExcessHet=0;FS=3.332;MLEAC=1;MLEAF=0.071;MQ=55.02;MQRankSum=-2.1;QD=6.8;ReadPosRankSum=0;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,102,1363:.	6	0	1	0
chr6	17606015	17606015	-	TTGATC	splicing	FAM8A1	NM_016255:exon4:c.1097+2->TTGATC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1187744890	1.269e-05	0.0008	8.826e-06	1.668e-05	0.0001	7.73e-06	6.32e-06	4.105e-05	2.388e-05	0	2.815e-05	8.875e-05	0.0001	0	0	7.714e-06	1.854e-05	1.38e-05	4.408e-05	0.0021	5.732e-05	3.016e-05	0.0002	1.882e-05	1.239e-05	2.645e-05	1.05e-05	2.579e-05	0	0.0002	0	0	0.0002	0	1.643e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	54.4	33	chr6	17606015	.	T	TTTGATC	54.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.1;DP=221;ExcessHet=0;FS=3.332;MLEAC=1;MLEAF=0.071;MQ=55.02;MQRankSum=-2.1;QD=6.8;ReadPosRankSum=-0.18;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,102,1363:.	6	0	1	0
chr6	17637748	17637748	A	C	exonic	NUP153	.	nonsynonymous SNV	NUP153:NM_001278210:exon15:c.T1743G:p.D581E,NUP153:NM_005124:exon16:c.T1869G:p.D623E,NUP153:NM_001278209:exon17:c.T1962G:p.D654E	.	430	1081	11	0	0	11	0.00506213	.	.	.	699467	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.051	0.0065042790654	0.0045	0.00299521	0.0048	0.0011	0.0014	0	0.0047	0.0064	0.0045	0.0060	0.0048576	751	154602	rs61748574	0.0058	0.0057	0.0058	0.0058	0.0176	0.0057	0.0056	0.0148	0.0137	0.0009	0.0017	0.0008	0	0.0039	0.0176	0.0064	0.0056	0.0055	0.0040	0.0040	0.0043	0.0036	0.0065	0.0037	0.0036	0.0060	0.0058	0.0010	0	0.0034	0.0014	0	0.0032	0.0340	0.0065	0.0028	0.0039	0.399	0.10517	T	0.551	0.09393	T	0.102	0.25827	B	0.048	0.24975	B	0.059073	0.22352	N	0.379952	1	0.08975	N	2.4	0.69460	M	1.59	0.28836	T	-0.5	0.15782	N	0.064	0.03613	-0.9679	0.37632	T	0.017	0.06950	T	10	0.008774191	0.00199	T	0.006504	0.17129	T	0.051	0.14325	0.549	0.66436	0.583783962782	0.58051	0.15777850133853077	0.15698	0.0448611855857	0.04851	0.320056021214	0.13429	T	0.009123	0.08323	T	-0.579136	0.00195	T	-0.599819	0.12826	T	0.00686507471851824	0.00078	T	0.859414	0.55137	D	0.016476626	0.00200	0.022436127	0.00268	0.016476626	0.00200	0.022436127	0.00268	-3.121	0.11539	T	.	.	0.121	0.31658	B	.;.;.	.;.;.	1.238146	0.16335	12.47	0.74435273872029661	0.10694	0.80698	0.40269	D	AEFBI	0.124234	0.24020	N	-0.816928905228238	0.12878	0.6306189	-0.783641183062532	0.14896	0.7807172	0.0878242586402551	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.73	0.7	0.17258	1.228000	0.32190	1.101000	0.24069	-0.050000	0.17177	0.943000	0.32764	0.991000	0.31484	0.432000	0.27494	0.4051:0.1801:0.4148:0.0	4.687	0.12144	482	0.77288	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008073	0.005051	0.004076	0.017751	0.000000	0.000000	0.003049	0.011364	0.07143	1699.63	33	chr6	17637748	.	A	C	1699.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.08;DP=302;ExcessHet=0;FS=0.682;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=0.872;SOR=0.826	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,111,1268	6	0	1	0
chr6	17764729	17764729	A	G	exonic	KIF13A	.	nonsynonymous SNV	KIF13A:NM_001105567:exon37:c.T4655C:p.F1552S,KIF13A:NM_001105568:exon37:c.T4655C:p.F1552S,KIF13A:NM_001105566:exon38:c.T4694C:p.F1565S,KIF13A:NM_022113:exon39:c.T4799C:p.F1600S	.	439	1076	7	0	0	7	0.00324224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.452	.	0.0031	0.00219649	0.0044	0.0012	0.0007	0	0.0114	0.0054	0.0035	0.0042	0.004075	630	154602	rs12211658	0.0047	0.0047	0.0047	0.0047	0.0049	0.0046	0.0046	0.0048	0.0048	0.0006	0.0014	0.0041	2.52e-05	0.0114	0.0010	0.0049	0.0042	0.0037	0.0041	0.0041	0.0041	0.0042	0.0055	0.0039	0.0038	0.0051	0.0049	0.0009	0.0636	0.0013	0.0035	0	0.0093	0	0.0055	0.0028	0.0044	0.001	0.91255	D	0.063	0.54159	T	0.999	0.90584	D	0.994	0.86255	D	0.000001	0.62929	D	0.056759	0.999968	0.52935	D	1.905	0.50856	L	0.63	0.53088	T	-2.93	0.62151	D	0.663	0.68255	-0.8285	0.53397	T	0.165	0.50323	T	10	0.009592205	0.00216	T	.	.	.	0.452	0.75211	.	.	0.546400721484	0.54296	0.5298646365150601	0.52910	1.18216629185	0.80048	0.743926584721	0.73550	T	0.120936	0.48935	T	-0.153581	0.27752	T	0.00950467	0.70950	D	0.0176958614126609	0.00500	T	0.951205	0.83363	D	0.7003856	0.78077	0.7632868	0.86015	0.7003856	0.78079	0.7632868	0.86016	-13.095	0.91480	D	.	.	0.920	0.84421	P	.;.;.;.;.;.	.;.;.;.;.;.	4.876987	0.79954	27.2	0.99893475365894746	0.96666	0.99251	0.93458	D	AEFBI	0.915068	0.87934	D	0.722244019615631	0.81089	7.441605	0.770325949262001	0.87665	9.301552	0.999999685269905	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.08	6.08	0.98982	8.947000	0.92735	11.235000	0.90242	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.651	0.85061	607	0.67291	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.003788	0.07143	895.44	43	chr6	17764729	.	A	G	895.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.573;DP=297;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=2.42;SOR=0.602	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	6	0	1	0
chr6	21594616	21594616	C	G	exonic	SOX4	.	nonsynonymous SNV	SOX4:NM_003107:exon1:c.C82G:p.L28V	.	401	1088	32	1	0	34	0.0153846	.	.	.	721903	SOX4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.393	.	0.0064	0.00658946	0.0099	0.0017	0.0069	0.0004	0.0236	0.0138	0.0104	0.0029	0.0069857	1080	154602	rs140231408	0.0088	0.0088	0.0087	0.0090	0.0231	0.0087	0.0087	0.0198	0.0185	0.0013	0.0061	0.0046	2.535e-05	0.0170	0.0231	0.0096	0.0085	0.0029	0.0084	0.0084	0.0083	0.0085	0.0123	0.0080	0.0078	0.0116	0.0113	0.0015	0.0461	0.0105	0.0037	0.0002	0.0112	0.0068	0.0123	0.0114	0.0035	0.02	0.49613	D	0.041	0.50514	D	0.999	0.77913	D	0.991	0.79672	D	0.008648	0.30737	U	0.228531	0.998091	0.44502	D	2.085	0.57729	M	-4.61	0.97866	D	-1.94	0.45042	N	0.28	0.31702	1.021	0.97545	D	0.930	0.97703	D	10	0.0058346987	0.00130	T	.	.	.	0.393	0.70844	.	.	0.976265630234	0.97601	0.8798186674249182	0.87949	1.76582254262	0.91186	0.850305140018	0.89661	D	0.508715	0.82587	D	-0.20665	0.19853	T	-0.0559893	0.66610	D	0.0263906622172914	0.01459	T	0.767723	0.39623	T	0.40660983	0.61188	0.48305514	0.70070	0.40660983	0.61188	0.48305514	0.70070	-5.077	0.37664	T	.	.	0.239	0.47294	B	.	.	4.612667	0.73162	25.9	0.98579792533148403	0.43219	0.13430	0.17851	N	ALL	0.198450	0.32531	N	0.508664371648211	0.67602	5.103375	0.493918065059826	0.67587	5.103923	0.999999999735307	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.12	5.12	0.69459	0.264000	0.18264	5.555000	0.48903	0.580000	0.29708	0.987000	0.36337	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.331	0.87150	674	0.60593	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014184	0.010309	0.014946	0.011696	0.050000	0.008621	0.015432	0.011364	0.07143	1285.46	35	chr6	21594616	.	C	G	1285.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.009;DP=262;ExcessHet=0;FS=1.8;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=0.086;SOR=0.485	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1076	6	0	1	0
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	474.08	36	chr6	24145554	.	C	T	474.08	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.235;DP=362;ExcessHet=1.383;FS=215.002;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.89;ReadPosRankSum=1.26;SOR=8.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:88,0:88:58:.:.:0,58,1670:.	3	0	3	1
chr6	25923906	25923906	C	T	exonic	SLC17A2	.	nonsynonymous SNV	SLC17A2:NM_001286125:exon2:c.G29A:p.G10D,SLC17A2:NM_001286123:exon3:c.G29A:p.G10D,SLC17A2:NM_005835:exon3:c.G29A:p.G10D	.	430	1036	49	7	0	63	0.0295082	0.7839	0.638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	.	0.0060	0.00698882	0.0101	0.0021	0.0070	0.0007	0.0035	0.0088	0.0156	0.0296	0.0091461	1414	154602	rs111909699	0.0075	0.0076	0.0064	0.0086	0.0313	0.0074	0.0074	0.0304	0.0300	0.0036	0.0073	0.0409	0.0007	0.0017	0.0286	0.0053	0.0098	0.0313	0.0062	0.0062	0.0059	0.0066	0.0263	0.0059	0.0058	0.0226	0.0212	0.0020	0.0088	0.0084	0.0357	0.0029	0.0022	0.0340	0.0060	0.0085	0.0263	0.075	0.34444	T	0.076	0.43344	T	0.007	0.14184	B	0.011	0.17743	B	0.019937	0.27150	N	0.266084	0.609647	0.30871	N	1.625	0.41611	L	-0.36	0.68754	T	-3.25	0.65283	D	0.216	0.24135	-1.0356	0.18668	T	0.091	0.34874	T	10	0.0032121837	0.00055	T	0.007218	0.19143	T	0.081	0.23632	.	.	.	.	0.3683833381169317	0.36752	0.288833652851	0.31292	0.336609959602	0.15930	T	0.249732	0.61973	T	-0.404966	0.02148	T	-0.33217	0.41227	T	0.0156558679385458	0.00359	T	0.360464	0.12562	T	0.14079377	0.32469	0.17332493	0.39651	0.14079377	0.32469	0.17332493	0.39650	-6.448	0.49884	T	.	.	0.115	0.23077	B	.;.;.	.;.;.	2.167978	0.27628	17.53	0.9886795882934537	0.47597	0.08222	0.14179	N	AEFGBI	0.131061	0.24985	N	-0.52049312443909	0.21418	1.136514	-0.445891988888644	0.23666	1.291768	0.0923378630642152	0.16156	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.11	3.2	0.35826	-0.213000	0.09309	0.808000	0.21724	0.599000	0.40250	0.011000	0.18532	0.956000	0.29165	0.932000	0.46971	0.1819:0.6427:0.1754:0.0	8.040	0.29677	496	0.76301	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026423	0.010309	0.028533	0.038690	0.050000	0.000000	0.024845	0.022727	0.08333	316.27	17	chr6	25923906	.	C	T	316.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.946;DP=141;ExcessHet=0;FS=2.069;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.628;SOR=1.432	GT:AD:DP:GQ:PL	0/0:31,0:31:72:0,72,1080	5	0	1	1
chr6	26092897	26092897	G	A	exonic	HFE	.	nonsynonymous SNV	HFE:NM_139010:exon2:c.G289A:p.E97K,HFE:NM_139003:exon3:c.G511A:p.E171K,HFE:NM_139004:exon3:c.G553A:p.E185K,HFE:NM_139007:exon3:c.G565A:p.E189K,HFE:NM_139008:exon3:c.G523A:p.E175K,HFE:NM_000410:exon4:c.G829A:p.E277K,HFE:NM_001300749:exon4:c.G829A:p.E277K,HFE:NM_001384164:exon4:c.G829A:p.E277K,HFE:NM_139006:exon4:c.G787A:p.E263K,HFE:NM_139009:exon4:c.G760A:p.E254K	Hemochromatosis, Autosomal recessive	0	1503	18	1	0	20	0.00660939	.	.	.	302313	not_provided|Hereditary_hemochromatosis	MedGen:C3661900|MONDO:MONDO:0006507,MedGen:C0392514,OMIM:PS235200	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.163	.	0.0007	0.00179712	0.0039	0.0007	0.0010	0	0	0.0006	0.0077	0.0246	0.0032859	508	154602	rs140080192	0.0022	0.0022	0.0013	0.0031	0.0266	0.0021	0.0021	0.0257	0.0253	0.0017	0.0006	0.0006	0	3.744e-05	0.0154	0.0005	0.0014	0.0266	0.0015	0.0015	0.0011	0.0018	0.0213	0.0013	0.0012	0.0180	0.0167	0.0014	0	0.0011	0.0006	0	0	0.0136	0.0005	0.0009	0.0213	0.025	0.91255	D	0.009	0.72224	D	0.994	0.90584	D	0.914	0.92359	D	0.003202	0.35270	N	0.197771	0.966573	0.81001	D	2.19	0.61577	M	2.52	0.14160	T	-2.72	0.72710	D	0.282	0.35727	-1.1483	0.01077	T	0.075	0.30272	T	10	0.0042536557	0.00085	T	.	.	.	0.163	0.42028	.	.	0.51880533489	0.51525	0.5444991423812867	0.54375	0.9077017835	0.70913	0.366547465324	0.20336	T	0.209275	0.56944	T	-0.434404	0.01395	T	-0.377171	0.36053	T	0.0296305559937139	0.01933	T	0.970503	0.98004	D	0.8426054	0.86795	0.7183908	0.83375	0.8376382	0.86441	0.7473148	0.85065	-6.822	0.58192	T	0.5373320340288041	0.60741	0.372	0.64527	A	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.416532	0.68366	25.2	0.99905771351955019	0.97651	0.41903	0.26760	N	AEFDBI	0.167319	0.29398	N	0.497705345638774	0.66954	5.017763	0.39905775470879	0.61507	4.351744	0.999996635199591	0.74766	0.623552	0.39893	0	0.624146	0.53433	0	0.602189	0.34648	0	0.579976	0.35079	0	.	.	5.35	5.35	0.76297	0.963000	0.28890	7.418000	0.58694	0.676000	0.76740	0.007000	0.17678	1.000000	0.68203	0.885000	0.42453	0.0:0.0:1.0:0.0	14.751	0.69141	495	0.76383	.;.;.;.;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;.;.;.;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012588	0.000000	0.010870	0.049708	0.050000	0.000000	0.006098	0.015152	0.07143	1056.46	34	chr6	26092897	.	G	A	1056.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.04;DP=270;ExcessHet=0;FS=0.831;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-0.605;SOR=0.587	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1178	6	0	1	0
chr6	26468202	26468202	G	C	exonic	BTN2A1	.	nonsynonymous SNV	BTN2A1:NM_001197233:exon7:c.G1054C:p.V352L,BTN2A1:NM_007049:exon8:c.G1237C:p.V413L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0113536328415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.322	0.13522	T	0.694	0.10429	T	0.04	0.21238	B	0.048	0.24975	B	0.004762	0.33407	N	0.137167	1	0.08975	N	1.02	0.25474	L	0.18	0.60361	T	-1.07	0.27876	N	0.037	0.01135	-1.0282	0.21038	T	0.046	0.19879	T	10	0.103967994	0.19141	T	0.011354	0.28886	T	0.046	0.12618	0.696	0.83313	0.330069100803	0.32608	0.18803037934269917	0.18721	0.073190021523	0.08211	0.332187712193	0.15264	T	0.002426	0.01816	T	-0.263576	0.12485	T	-0.616385	0.11471	T	0.136818408966064	0.15998	T	0.253675	0.03893	T	0.08667843	0.20157	0.044379774	0.05736	0.08667843	0.20157	0.044379774	0.05735	-5.069	0.38799	T	.	.	0.183	0.42346	B	.;.	.;.	1.079481	0.14625	11.18	0.65931159684803642	0.07913	0.17428	0.19833	N	AEFDBI	0.148750	0.27270	N	-1.15219466408591	0.05744	0.2626631	-1.21295770557281	0.05701	0.2723853	0.999415319775984	0.39577	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	0.827	0.17972	-0.311000	0.08164	1.108000	0.24132	-0.191000	0.09375	0.000000	0.06391	0.000000	0.08366	0.086000	0.17578	0.1419:0.0:0.6121:0.246	3.473	0.07138	637	0.64373	.;SPRY domain|B30.2/SPRY domain|SPRY domain|Butyrophilin subfamily 1/2, SPRY/PRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	55.17	113	chr6	26468202	.	G	C	55.17	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-3.69;DP=826;ExcessHet=0;FS=165.634;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.27;ReadPosRankSum=4.12;SOR=9.022	GT:AD:DP:GQ:PL	0/1:169,36:233:64:64,0,3718	4	0	1	2
chr6	27310582	27310582	G	A	exonic	POM121L2	.	nonsynonymous SNV	POM121L2:NM_033482:exon1:c.C1589T:p.A530V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00457380117422	.	.	.	.	.	.	.	.	.	.	.	.	.	rs931459915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.025	0.56192	D	.	.	.	.	.	.	0.055521	0.22635	N	0.224693	0.852663	0.28474	N	1.385	0.34509	L	1.94	0.22678	T	-2.33	0.51646	N	0.033	0.00882	-1.0093	0.27136	T	0.021	0.08917	T	10	0.06081772	0.07530	T	0.004574	0.11283	T	0.037	0.09474	0.228	0.15406	0.0401082797425	0.02173	0.28922171704253374	0.28835	.	.	0.254709690809	0.04280	T	0.016631	0.13711	T	-0.321687	0.06761	T	-0.699857	0.05834	T	0.437501043081284	0.30337	T	0.454055	0.12934	T	0.08149508	0.18729	0.12834299	0.30879	0.08149508	0.18729	0.12834299	0.30878	-3.999	0.23789	T	.	.	0.122	0.25364	B	.	.	1.722228	0.21927	15.41	0.99824631958357912	0.90677	0.35993	0.25431	N	AEFDBI	0.065033	0.12662	N	-0.709333535591486	0.15758	0.7970068	-0.707749686166026	0.16767	0.8885786	0.00176535619173559	0.08861	0.516011	0.20929	0	0.610034	0.51514	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.41	2.64	0.30504	1.255000	0.32512	1.631000	0.27739	-0.186000	0.09761	0.088000	0.22533	0.006000	0.19429	0.249000	0.23237	0.2046:0.0:0.7954:0.0	7.159	0.24831	624	0.65661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	211.99	40	chr6	27310582	.	G	A	211.99	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.57;DP=369;ExcessHet=1.383;FS=204.346;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1;ReadPosRankSum=0.534;SOR=8.222	GT:AD:DP:GQ:PL	0/1:74,25:102:99:103,0,1314	2	0	3	2
chr6	27400705	27400705	A	G	exonic	ZNF391	.	nonsynonymous SNV	ZNF391:NM_001076781:exon3:c.A335G:p.N112S,ZNF391:NM_001322293:exon3:c.A335G:p.N112S,ZNF391:NM_001322288:exon4:c.A335G:p.N112S,ZNF391:NM_001322289:exon4:c.A335G:p.N112S	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.0010632933788	.	.	2.499e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs778800610	1.026e-05	1.026e-05	4.085e-06	1.65e-05	0.0002	6.16e-06	4.89e-06	0.0001	8.648e-05	0	0	0	0	0	0	0	0	0.0002	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.131	0.26629	T	0.082	0.41573	T	0.003	0.11197	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.355	0.33814	L	5.48	0.50192	T	-3.02	0.62630	D	0.073	0.04668	-1.0234	0.22606	T	0.027	0.11485	T	9	0.04466182	0.03448	T	0.001063	0.01215	T	0.036	0.09122	0.197	0.10975	0.259272394797	0.25527	0.014631049336576283	0.01420	0.104694410555	0.11848	0.289837509394	0.08899	T	0.191417	0.54625	T	-0.513634	0.00479	T	-0.696141	0.06039	T	0.026584392841544	0.01486	T	0.156884	0.01550	T	0.05063873	0.09178	0.077628724	0.17312	0.05063873	0.09177	0.077628724	0.17311	-4.074	0.24905	T	.	.	0.075	0.10691	B	.;.	.;.	0.420640	0.07912	4.618	0.43925058313518267	0.03341	0.01753	0.05519	N	AEFGBCI	0.051864	0.09204	N	-0.981832879339826	0.08992	0.4237645	-1.00162482923481	0.09750	0.4868805	8.82141837920358E-5	0.04703	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.564101	0.26826	0	.	.	4.29	1.86	0.24489	-1.844000	0.01772	-1.234000	0.05952	0.658000	0.54486	0.000000	0.06391	0.000000	0.08366	0.722000	0.34836	0.5057:0.1975:0.1065:0.1903	1.085	0.01548	568	0.70638	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1805.44	33	chr6	27400705	.	A	G	1805.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.016;DP=320;ExcessHet=0;FS=2.137;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=0.565;SOR=0.937	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1132	6	0	1	0
chr6	27957616	27957616	A	G	exonic	OR2B6	.	nonsynonymous SNV	OR2B6:NM_012367:exon1:c.A376G:p.I126V	.	424	1077	20	1	0	22	0.0101103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	0.0005	0.00479233	0.0059	0.0010	0.0007	0.0003	0	0.0002	0.0033	0.0409	0.0048576	751	154602	rs143223456	0.0028	0.0028	0.0014	0.0042	0.0425	0.0027	0.0027	0.0413	0.0409	0.0013	0.0001	0.0007	0.0005	0	0.0102	0.0002	0.0015	0.0425	0.0014	0.0014	0.0009	0.0020	0.0344	0.0013	0.0012	0.0302	0.0285	0.0007	0	6.55e-05	0.0006	0.0019	0	0	8.825e-05	0.0005	0.0344	0.903	0.02407	T	1.0	0.01155	T	0.008	0.14655	B	0.05	0.25278	B	0.004577	0.33608	U	0.000000	0.638709	0.32856	D	0.57	0.15267	N	0.73	0.50721	T	-0.08	0.08187	N	0.508	0.53972	-1.0650	0.10549	T	0.042	0.17869	T	10	0.006839961	0.00155	T	.	.	.	0.105	0.29889	.	.	0.54456359225	0.54111	0.14947189597647004	0.14869	0.0639061766001	0.07121	0.325245440006	0.14215	T	0.005922	0.05364	T	-0.457479	0.01019	T	-0.431387	0.29779	T	0.0305732340930483	0.02079	T	0.622038	0.23930	T	0.06276232	0.13143	0.062467888	0.12226	0.06276232	0.13143	0.062467888	0.12225	-4.159	0.26155	T	.	.	0.097	0.15877	B	.	.	1.988445	0.25265	16.70	0.39403202385802433	0.02717	0.97488	0.75073	D	AEFGBI	0.466915	0.51436	N	-0.377714764813272	0.26264	1.432113	-0.258030348275566	0.29496	1.652963	0.998758606467048	0.37602	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.68	3.68	0.41359	6.849000	0.75212	0.068000	0.14222	0.752000	0.88150	1.000000	0.71638	0.000000	0.08366	0.996000	0.76049	1.0:0.0:0.0:0.0	10.916	0.46346	481	0.77356	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014099	0.000000	0.005435	0.035088	0.000000	0.008621	0.009146	0.037879	0.07143	1738.44	37	chr6	27957616	.	A	G	1738.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.518;DP=349;ExcessHet=0;FS=0.578;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=-0.575;SOR=0.758	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1055	6	0	1	0
chr6	28260114	28260114	C	A	exonic	NKAPL	.	nonsynonymous SNV	NKAPL:NM_001007531:exon1:c.C743A:p.S248Y	.	428	1082	12	0	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	.	7.7e-05	0.00239617	0.0043	0.0002	0.0005	0	0	6.959e-05	0.0037	0.0282	0.0030983	479	154602	rs377279849	0.0016	0.0017	0.0007	0.0026	0.0285	0.0016	0.0015	0.0275	0.0271	0	0	0	0	0	0.0012	9.051e-06	0.0006	0.0285	0.0007	0.0007	0.0003	0.0011	0.0220	0.0006	0.0005	0.0186	0.0174	0	0	0	0	0	0	0	0	0	0.0220	0.514	0.07401	T	0.03	0.54159	D	0.006	0.13644	B	0.005	0.11217	B	0.000082	0.00436	N	38.570000	0.966269	0.38519	D	1.5	0.37844	L	2.49	0.14531	T	-3.34	0.66325	D	0.139	0.13769	-0.9571	0.39717	T	0.012	0.04747	T	10	0.0026673973	0.00041	T	.	.	.	0.076	0.22200	.	.	0.0666544352282	0.05500	0.192862456312426	0.19204	0.555486334533	0.52246	0.312239766121	0.12245	T	0.053539	0.29470	T	-0.666268	0.00058	T	-0.708875	0.05353	T	0.0343689718998629	0.02701	T	0.316468	0.06291	T	0.13378544	0.31105	0.14381708	0.34165	0.13378544	0.31105	0.14381708	0.34164	-6.062	0.46795	T	.	.	0.086	0.10787	B	.	.	1.309856	0.17126	12.98	0.76940388349203215	0.11671	0.81260	0.40701	D	AEFDBI	0.154988	0.28011	N	-0.65836251679759	0.17217	0.8840706	-0.670536542136449	0.17700	0.9422749	0.355655533109289	0.19727	0.549168	0.22868	0	0.547309	0.14657	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	4.21	-0.281	0.12244	0.507000	0.22383	-0.216000	0.10808	0.599000	0.40250	0.268000	0.25027	0.000000	0.08366	0.642000	0.32476	0.3475:0.2971:0.2637:0.0917	2.436	0.04210	495	0.76383	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005040	0.000000	0.000000	0.008772	0.000000	0.000000	0.003049	0.022727	0.08333	575.27	39	chr6	28260114	.	C	A	575.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.169;DP=251;ExcessHet=0;FS=2.334;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.28;ReadPosRankSum=-0.867;SOR=1.022	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1447	5	0	1	1
chr6	28287104	28287104	A	G	exonic	PGBD1	.	nonsynonymous SNV	PGBD1:NM_001184743:exon4:c.A578G:p.H193R,PGBD1:NM_032507:exon4:c.A578G:p.H193R	.	409	1094	18	1	0	20	0.00905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00227787783254	0.0008	0.000399361	0.0006	0.0003	0.0003	0	0	0.0007	0.0022	0.0008	0.0006015	93	154602	rs148512859	0.0006	0.0006	0.0006	0.0006	0.0106	0.0006	0.0006	0.0085	0.0077	0.0004	0.0006	0.0002	0	0	0.0106	0.0007	0.0008	0.0005	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0005	0.0005	0.0002	0	0.0007	0	0	0	0.0102	0.0007	0.0028	0.0008	0.355	0.12109	T	0.349	0.17531	T	0.171	0.28729	B	0.03	0.21741	B	.	.	.	.	1	0.08975	N	1.24	0.30952	L	5.06	0.01260	T	-0.48	0.15379	N	0.073	0.04668	-0.9251	0.44844	T	0.001	0.00287	T	9	0.010882914	0.00240	T	0.002278	0.04369	T	0.025	0.05312	.	.	0.225902525712	0.22197	0.21846926799487926	0.21762	.	.	0.36818510294	0.20571	T	0.001684	0.01111	T	-0.6557	0.00067	T	-0.792632	0.02093	T	0.00539495298113635	0.00058	T	0.39586	0.09952	T	0.020562895	0.00619	0.034223743	0.02451	0.020562895	0.00619	0.034223743	0.02450	-3.34	0.14259	T	.	.	0.066	0.02228	B	.	.	-0.350745	0.02404	0.268	0.61767355836450288	0.06792	0.01150	0.04159	N	AEFGBI	0.023257	0.01272	N	-1.17160867607647	0.05434	0.2476974	-1.24760222737288	0.05166	0.2455314	0.0583885366125283	0.15125	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.32	-5.31	0.02519	-1.565000	0.02254	-0.815000	0.07319	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.606000	0.31539	0.1504:0.3003:0.2506:0.2987	0.878	0.01149	516	0.74704	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.000000	0.009511	0.005848	0.050000	0.017241	0.000000	0.003788	0.07143	872.46	111	chr6	28287104	.	A	G	872.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.578;DP=292;ExcessHet=0;FS=6.068;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.86;ReadPosRankSum=-0.532;SOR=0.42	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1180	6	0	1	0
chr6	28435078	28435078	T	A	exonic	ZSCAN23	.	nonsynonymous SNV	ZSCAN23:NM_001012455:exon4:c.A557T:p.D186V	.	437	1070	13	2	0	17	0.00788132	0.0035	0.198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.0002	0.0006	0	0	0	0	0.0062	0.0002	2.59e-05	4	154602	rs768184339	7.44e-05	7.388e-05	7.312e-05	7.572e-05	0.0034	6.234e-05	5.818e-05	0.0023	0.0019	3.318e-05	0.0006	0.0002	0	0	0.0034	4.225e-05	0.0002	5.244e-05	0.0001	0.0001	8.997e-05	0.0001	0.0005	7.09e-05	5.747e-05	0.0002	0.0002	7.223e-05	0	0.0005	0	0	0	0.0034	5.881e-05	0.0009	0	0.218	0.19090	T	0.128	0.34959	T	0.001	0.07471	B	0.003	0.08700	B	0.143230	0.18217	N	0.409734	0.973669	0.39042	D	2.35	0.67516	M	3.39	0.05710	T	-4.83	0.80943	D	0.21	0.23380	-0.9651	0.38191	T	0.006	0.01981	T	10	0.052782416	0.05365	T	0.002135	0.03962	T	0.055	0.15663	.	.	0.329020015101	0.32502	0.25952741445275024	0.25866	0.380450103368	0.39413	0.246379107237	0.03396	T	0.098056	0.40149	T	-0.507394	0.00519	T	-0.619441	0.11229	T	0.179459199309349	0.19201	T	0.573543	0.20534	T	0.17597505	0.38486	0.12403049	0.29902	0.17597505	0.38486	0.12403049	0.29901	-4.018	0.24072	T	.	.	0.235	0.46802	B	.	.	1.409454	0.18245	13.63	0.90017490177584891	0.19307	0.08993	0.14835	N	AEFBI	0.120583	0.23484	N	-0.714267508158868	0.15620	0.788786	-0.716350446275307	0.16553	0.8762617	0.0045899190490222	0.10627	0.651	0.46895	0	0.588066	0.40923	0	0.65145	0.50148	0	0.567892	0.33627	0	.	.	4.37	0.477	0.15995	-0.401000	0.07293	-0.376000	0.09574	0.665000	0.62972	0.013000	0.18845	0.006000	0.19429	0.985000	0.61073	0.2137:0.2387:0.0:0.5476	2.591	0.04548	624	0.65661	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	99.73	10	chr6	28435078	.	T	A	99.73	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.017;DP=105;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=1.32;SOR=0.16	GT:AD:DP:GQ:PL	0/0:27,0:27:72:0,72,1080	6	0	1	0
chr6	29375187	29375187	A	-	exonic	OR12D3	.	frameshift deletion	OR12D3:NM_030959:exon1:c.101delT:p.L34Rfs*2	.	437	1081	4	0	0	4	0.00184672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	.	8.739e-05	0	0.0003	0	0	0.0001	0	0	7.12e-05	11	154602	rs772754697	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0002	0.0002	2.987e-05	0.0003	0	0	1.912e-05	0.0007	0.0001	0.0002	3.48e-05	0.0002	0.0002	0.0002	8.074e-05	0.0009	0.0001	9.707e-05	0.0005	0.0004	2.415e-05	0	0.0009	0	0.0002	0	0	0.0001	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000545	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	290.59	27	chr6	29375186	.	CA	C	290.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=0.107;SOR=0.593	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr6	29588710	29588710	G	A	exonic	OR2H2	.	nonsynonymous SNV	OR2H2:NM_007160:exon1:c.G766A:p.V256I	.	439	1058	25	0	0	25	0.0116768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	.	0.0001	0.00599042	0.0067	0.0001	0.0006	0.0005	0	0.0004	0.0034	0.0451	0.0052975	819	154602	rs147023039	0.0030	0.0029	0.0014	0.0046	0.0443	0.0029	0.0029	0.0432	0.0427	3.211e-05	8.969e-05	0.0007	0.0004	0	0.0094	0.0002	0.0012	0.0443	0.0014	0.0014	0.0008	0.0019	0.0365	0.0012	0.0011	0.0321	0.0304	2.406e-05	0	6.533e-05	0.0006	0.0023	0	0	0.0002	0.0005	0.0365	0.21	0.19639	T	0.205	0.27145	T	0.127	0.26966	B	0.122	0.32387	B	0.042437	0.23843	N	0.209202	0.999996	0.58761	D	-0.17	0.04298	N	8.74	0.00084	T	-0.33	0.12472	N	0.178	0.19190	-1.0256	0.21886	T	0.000	0.00039	T	10	0.0038820803	0.00074	T	.	.	.	0.103	0.29403	.	.	0.16115917748	0.15686	0.052412846359074824	0.05183	0.16524632657	0.18640	0.215086326003	0.01045	T	0.002115	0.01518	T	-0.513781	0.00478	T	-0.476479	0.24821	T	0.0367894765877239	0.03119	T	.	.	.	0.06785004	0.14732	0.2535041	0.50999	0.06785004	0.14732	0.2535041	0.50998	-3.542	0.17025	T	.	.	0.089	0.12938	B	.;.	.;.	2.122607	0.27015	17.32	0.97411633701978251	0.33825	0.11678	0.16791	N	AEFBI	0.063953	0.12390	N	-0.379795791006554	0.26189	1.427469	-0.288588738300988	0.28473	1.587876	0.195256041529539	0.18050	0.421363	0.06395	0	0.563428	0.19063	0	0.536957	0.11973	0	0.530356	0.10902	0	.	.	4.1	4.1	0.47196	1.328000	0.33364	.	.	0.618000	0.50648	0.001000	0.13787	0.000000	0.08366	0.995000	0.73285	0.2114:0.0:0.7885:0.0	6.149	0.19517	846	0.36215	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012527	0.000000	0.002717	0.053191	0.000000	0.008621	0.006098	0.034091	0.07143	2096.53	45	chr6	29588710	.	G	A	2096.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.239;DP=351;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=51.34;MQRankSum=0.303;QD=14.98;ReadPosRankSum=0.349;SOR=0.719	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1620	6	0	1	0
chr6	29942948	29942948	C	0	exonic	HLA-A	.	.	.	.	4	962	413	52	91	608	0.211798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4449.08	53	chr6	29942948	.	C	*	4449.08	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.2;DP=564;ExcessHet=4.7409;FS=5.536;MLEAC=1;MLEAF=0.071;MQ=59.19;MQRankSum=-2.422;QD=9.71;ReadPosRankSum=1.19;SOR=1.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:65,0:97:99:0|1:29942939_C_G:1067,1263,3972:29942939	6	0	1	0
chr6	29942984	29942984	G	0	exonic	HLA-A	.	.	.	.	21	460	694	307	40	1348	0.587074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	9878.97	32	chr6	29942984	.	G	*	9878.97	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.7;DP=445;ExcessHet=0.4813;FS=1.791;MLEAC=1;MLEAF=0.071;MQ=59;MQRankSum=-2.621;QD=22.4;ReadPosRankSum=1.1;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:69:99:1|1:29942965_G_C:3084,3084,3084:29942965	6	0	1	0
chr6	30071626	30071626	C	G	exonic	RNF39	.	nonsynonymous SNV	RNF39:NM_025236:exon4:c.G748C:p.V250L,RNF39:NM_170769:exon4:c.G748C:p.V250L	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.339640893794	.	.	0.0051	0	0	0	0	0	0	0.0087	0.0001488	23	154602	rs776173276	0.0003	0.0003	0.0003	0.0004	0.0027	0.0003	0.0003	0.0024	0.0023	0	0.0001	0	0	6.434e-05	0.0022	0.0002	0.0004	0.0027	0.0002	0.0002	0.0003	0.0002	0.0017	0.0002	0.0001	0.0008	0.0006	0	0	0.0001	0	0	0	0	0.0004	0	0.0017	0.092	0.37326	T	0.028	0.54934	D	0.946	0.53761	P	0.687	0.61462	P	0.001270	0.39594	N	0.000000	0.616953	0.32671	D	2.475	0.71894	M	1.85	0.24472	T	-2.12	0.49352	N	0.495	0.53093	-1.0023	0.29255	T	0.094	0.35738	T	10	0.00939399	0.00212	T	0.339641	0.91979	D	0.199	0.48268	0.564	0.68499	0.21279746466	0.20884	0.29193615318766536	0.29106	2.21629160257	0.95813	0.725455641747	0.70843	T	0.160159	0.50389	T	-0.417508	0.01774	T	-0.376489	0.36131	T	0.167232894779799	0.18390	T	.	.	.	0.16387461	0.36558	0.25100803	0.50703	0.16387461	0.36557	0.25100803	0.50702	-4.665	0.39874	T	.	.	0.516	0.65314	A	.;.	.;.	3.128317	0.42264	21.5	0.98761582607004172	0.45816	0.49577	0.28465	N	AEFDBHCIJ	0.357766	0.44868	N	0.23232232843626	0.52771	3.449252	0.130870301454089	0.46135	2.864598	0.999999469154877	0.74766	0.582742	0.33608	0	0.541168	0.11318	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.7	4.7	0.58776	2.830000	0.47837	.	.	0.454000	0.21428	0.988000	0.36536	0.998000	0.33993	0.207000	0.22098	0.0:1.0:0.0:0.0	15.575	0.76111	862	0.33134	.;SPRY-associated|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001854	0.000000	0.004545	0.000000	0.000000	0.000000	0.003521	0.000000	0.1429	363.65	9	chr6	30071626	.	C	G	363.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.751;DP=121;ExcessHet=0.3476;FS=1.309;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=0.952;SOR=1.022	GT:AD:DP:GQ:PL	0/0:22,0:22:57:0,57,855	5	0	2	0
chr6	30158431	30158431	T	G	exonic	TRIM10	.	nonsynonymous SNV	TRIM10:NM_006778:exon3:c.A724C:p.K242Q,TRIM10:NM_052828:exon3:c.A724C:p.K242Q	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0210127011593	.	.	8.599e-06	0	0	0	0	1.578e-05	0	0	6.5e-06	1	154602	rs757289413	8.215e-06	8.209e-06	5.449e-06	1.101e-05	0.0003	4.38e-06	3.46e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-06	0	0	6.578e-06	6.569e-06	0	1.347e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.007	0.69154	D	0.999	0.90584	D	0.994	0.86255	D	0.000027	0.55875	D	0.000000	0.979001	0.39518	D	3.16	0.88528	M	3.56	0.04696	T	-3.16	0.64710	D	0.458	0.53357	-1.1483	0.01077	T	0.040	0.17149	T	10	0.42696646	0.57238	T	0.021013	0.43710	T	0.221	0.51721	0.553	0.66995	0.528461186488	0.52492	0.4298027577488027	0.42897	0.542619880646	0.51363	0.529003024101	0.42893	T	0.050319	0.28560	T	-0.110215	0.34734	T	-0.326255	0.41884	T	0.970980584621429	0.69149	D	.	.	.	0.27465025	0.50530	0.26325077	0.52128	0.27465025	0.50530	0.26325077	0.52127	-8.637	0.65333	D	.	.	0.299	0.58072	B	.;.	.;.	4.266189	0.64870	24.8	0.99483882050836336	0.67069	0.97020	0.72227	D	AEFDBI	0.589978	0.58665	D	0.69828140446345	0.79520	7.094857	0.627552151722051	0.76948	6.586113	0.999995386451126	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	5.77	5.77	0.91077	5.137000	0.64630	.	.	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.830000	0.39126	0.0:0.0:0.0:1.0	12.491	0.55240	840	0.37365	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	802.44	33	chr6	30158431	.	T	G	802.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.43;DP=264;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=0.084;SOR=0.653	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1322	6	0	1	0
chr6	30546752	30546752	G	A	exonic	GNL1	.	nonsynonymous SNV	GNL1:NM_005275:exon11:c.C1526T:p.A509V	.	431	1071	19	1	0	21	0.00970874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	.	0.0032	0.00319489	0.0038	0.0003	0.0031	0.0004	0.0008	0.0047	0.0023	0.0059	0.0034476	533	154602	rs145831378	0.0028	0.0028	0.0025	0.0030	0.0082	0.0027	0.0027	0.0063	0.0057	0.0004	0.0028	0.0147	0.0004	0.0005	0.0082	0.0025	0.0039	0.0046	0.0024	0.0024	0.0022	0.0025	0.0048	0.0022	0.0021	0.0033	0.0028	0.0004	0	0.0029	0.0121	0.0008	0.0002	0.0068	0.0032	0.0038	0.0048	0.074	0.34621	T	0.236	0.24694	T	0.002	0.09854	B	0.001	0.04355	B	0.000009	0.62929	D	0.110120	0.999996	0.58761	D	1.665	0.42610	L	0.99	0.41750	T	-2.67	0.57110	D	0.522	0.55193	-1.0959	0.04625	T	0.052	0.22269	T	10	0.0069569647	0.00158	T	.	.	.	0.086	0.25016	.	.	0.151262610727	0.14761	0.7024483770050935	0.70185	0.893744166921	0.70334	0.514862060547	0.40903	T	0.089616	0.38410	T	-0.409983	0.01988	T	-0.36046	0.37999	T	0.0259308743458124	0.01397	T	.	.	.	0.13853389	0.32035	0.25031698	0.50620	0.13853389	0.32035	0.25031698	0.50619	-7.002	0.54048	T	.	.	0.272	0.50627	B	.	.	4.256509	0.64649	24.7	0.99745488045738573	0.83852	0.97412	0.74585	D	AEFBI	0.635611	0.61507	D	0.16132719026619	0.49351	3.136349	0.322455380877727	0.56862	3.850263	0.999998690448539	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.116000	0.76750	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0827:0.0:0.9173:0.0	12.182	0.53524	814	0.42100	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006536	0.000000	0.001359	0.000000	0.000000	0.008772	0.012195	0.018939	0.07143	415.45	28	chr6	30546752	.	G	A	415.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.167;DP=227;ExcessHet=0;FS=0.984;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.29;ReadPosRankSum=0.393;SOR=0.837	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1062	6	0	1	0
chr6	30552590	30552590	C	T	exonic	GNL1	.	nonsynonymous SNV	GNL1:NM_005275:exon8:c.G976A:p.E326K	.	415	1060	42	5	0	52	0.0239411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	.	0.0048	0.00638978	0.0074	0.0013	0.0049	0.0009	0.0011	0.0075	0.0056	0.0188	0.0070892	1096	154602	rs142398523	0.0071	0.0071	0.0066	0.0076	0.0439	0.0070	0.0069	0.0394	0.0377	0.0012	0.0057	0.0241	0.0005	0.0006	0.0439	0.0063	0.0090	0.0177	0.0052	0.0052	0.0052	0.0052	0.0141	0.0049	0.0048	0.0114	0.0104	0.0016	0	0.0059	0.0213	0.0015	0.0003	0.0340	0.0064	0.0142	0.0141	0.03	0.45393	D	0.019	0.59159	D	0.816	0.45573	P	0.227	0.38084	B	0.000482	0.43931	D	0.228733	0.999965	0.52935	D	1.845	0.48678	L	0.83	0.47815	T	-1.34	0.33401	N	0.426	0.46555	-1.0722	0.08936	T	0.035	0.15204	T	10	0.00442791	0.00090	T	.	.	.	0.132	0.35948	.	.	0.489576071459	0.48589	0.5364240969637265	0.53567	0.797786446455	0.66110	0.620034217834	0.55734	T	0.030408	0.21564	T	-0.402093	0.02244	T	-0.336075	0.40788	T	0.0221171863396322	0.00922	T	.	.	.	0.12927033	0.30197	0.23784553	0.49092	0.12927033	0.30197	0.23784553	0.49091	-7.849	0.60036	D	.	.	0.121	0.25166	B	.	.	3.627262	0.51366	23.1	0.99848947588688486	0.92838	0.94875	0.62633	D	AEFBHCI	0.752370	0.69289	D	0.0422544859961242	0.43786	2.664846	0.195451800292939	0.49595	3.161001	0.999999999755625	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.95	4.95	0.64894	6.329000	0.72876	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:1.0:0.0:0.0	17.317	0.87113	814	0.42100	Circularly permuted (CP)-type guanine nucleotide-binding (G) domain	.	.	.	.	rs142398523	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026688	0.055556	0.027174	0.031915	0.000000	0.017241	0.003049	0.018939	0.07143	996.49	33	chr6	30552590	.	C	T	996.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.34;DP=278;ExcessHet=0;FS=2.764;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-1.056;SOR=1.05	GT:AD:DP:GQ:PL	0/1:55,40:95:99:1007,0,1197	6	0	1	0
chr6	30647826	30647826	A	G	exonic	C6orf136	.	nonsynonymous SNV	C6orf136:NM_001161376:exon1:c.A595G:p.R199G	.	421	1021	74	6	0	86	0.0404135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	.	0.0171725	0.0293	0.0054	0.0290	0.0278	0	0.0178	0.0541	0.0388	0.003357	519	154602	rs117903822	0.0077	0.0074	0.0070	0.0084	0.0797	0.0076	0.0075	0.0772	0.0762	0.0052	0.0085	0.0167	0.0797	0.0052	0.0338	0.0038	0.0101	0.0258	0.0078	0.0078	0.0069	0.0088	0.0437	0.0075	0.0073	0.0390	0.0372	0.0039	0.0088	0.0118	0.0176	0.0437	0.0058	0.0374	0.0052	0.0123	0.0207	1.0	0.00964	T	0.332	0.18732	T	.	.	.	.	.	.	.	.	.	.	1	0.22124	N	.	.	.	.	.	.	-0.65	0.18877	N	0.01	0.00095	-0.9772	0.35638	T	0.014	0.05657	T	8	0.0018902421	0.00026	T	.	.	.	0.075	0.21907	.	.	.	.	0.06098385558283108	0.06038	1.24459615627	0.81633	.	.	.	0.01798	0.14575	T	-0.709725	0.00032	T	-0.729716	0.04340	T	0.00730309167067027	0.00084	T	0.329067	0.06866	T	.	.	.	.	.	.	.	.	-3.444	0.15656	T	.	.	0.046	0.00059	B	.;.	.;.	1.312319	0.17156	12.99	0.62416210181127441	0.06957	0.00276	0.01495	N	ALL	0.031049	0.03242	N	-1.38486048576254	0.02779	0.123214	-1.38930339050936	0.03365	0.1568165	0.999999999949627	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	3.38	-1.41	0.08473	0.813000	0.26883	.	.	-0.121000	0.13915	0.014000	0.18986	0.926000	0.28431	0.943000	0.48514	0.4582:0.0:0.3434:0.1985	3.037	0.05757	851	0.35303	.;.	.	.	.	.	rs117903822	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018692	0.005882	0.021739	0.035714	0.083333	0.093750	0.025316	0.000000	0.08333	213.27	26	chr6	30647826	.	A	G	213.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.009;DP=171;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-2.028;SOR=0.743	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	5	0	1	1
chr6	30649755	30649755	G	C	exonic	C6orf136	.	nonsynonymous SNV	C6orf136:NM_001109938:exon2:c.G270C:p.K90N,C6orf136:NM_001161376:exon2:c.G813C:p.K271N	.	419	1098	5	0	0	5	0.00227169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00666572034481	0.0004	.	0.0007	0	0.0009	0	0	0.0005	0	0.0024	0.0005498	85	154602	rs200121038	0.0005	0.0005	0.0004	0.0005	0.0028	0.0004	0.0004	0.0024	0.0022	0	0.0006	0.0010	0	3.744e-05	0.0028	0.0003	0.0005	0.0026	0.0003	0.0003	0.0004	0.0002	0.0017	0.0002	0.0002	0.0008	0.0006	0	0	0.0003	0.0006	0	0	0	0.0004	0.0005	0.0017	0.28	0.37536	T	0.258	0.28032	T	0.001	0.07471	B	0.001	0.04355	B	0.010282	0.29986	N	0.339064	0.999996	0.58761	D	0.2	0.09183	N	.	.	.	0.12	0.05604	N	0.255	0.29197	-1.0740	0.08556	T	0.034	0.14813	T	9	0.009708077	0.00218	T	0.006666	0.17585	T	0.053	0.14996	0.138	0.04187	0.082315109003	0.07666	0.2432891339129268	0.24242	0.0739344201887	0.08283	.	.	.	0.002817	0.08507	T	-0.542384	0.00324	T	-0.55835	0.16532	T	0.0185415881737574	0.00569	T	0.608239	0.22965	T	0.067924134	0.14753	0.060545366	0.11549	0.067924134	0.14753	0.060545366	0.11548	-4.354	0.30573	T	.	.	0.131	0.40360	B	.;.;.	.;.;.	2.760529	0.36205	20.2	0.98677170686070281	0.44554	0.59098	0.30821	D	AEFDBHCI	0.149272	0.27333	N	-0.6854944614728	0.16435	0.8372905	-0.537525574889935	0.21137	1.142072	0.999998263624572	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.683762	0.67416	0	.	.	5.82	0.714	0.17336	0.847000	0.27348	.	.	-0.126000	0.13398	0.998000	0.41325	0.999000	0.35428	0.859000	0.40722	0.0689:0.1164:0.4861:0.3286	5.248	0.14825	851	0.35303	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001634	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.1429	1970.26	47	chr6	30649755	.	G	C	1970.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.378;DP=273;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=-1.303;SOR=0.661	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1105	5	0	2	0
chr6	30685364	30685364	C	G	exonic	PPP1R18	.	nonsynonymous SNV	PPP1R18:NM_133471:exon1:c.G655C:p.V219L,PPP1R18:NM_001134870:exon2:c.G655C:p.V219L	.	419	1043	54	6	0	66	0.0306691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	0.0023	0.0061901	0.0061	0.0007	0.0036	0.0014	0.0020	0.0045	0.0069	0.0212	0.0054204	838	154602	rs143519393	0.0042	0.0042	0.0034	0.0049	0.0217	0.0041	0.0041	0.0209	0.0205	0.0005	0.0040	0.0052	0.0004	0.0018	0.0153	0.0031	0.0052	0.0217	0.0038	0.0038	0.0033	0.0042	0.0180	0.0035	0.0034	0.0150	0.0139	0.0006	0	0.0079	0.0046	0.0015	0.0025	0.0272	0.0040	0.0052	0.0180	0.082	0.33254	T	0.255	0.23365	T	0.008	0.14655	B	0.002	0.06944	B	0.700478	0.10098	N	0.818239	1	0.08975	N	2.32	0.66415	M	1.88	0.23884	T	-0.35	0.12847	N	0.132	0.12770	-0.9456	0.41715	T	0.014	0.05705	T	10	0.001848489	0.00025	T	.	.	.	0.021	0.04004	0.264	0.20946	0.0611884634855	0.05136	0.027450092187436007	0.02695	0.448885401441	0.44700	0.363796293736	0.19938	T	0.002987	0.02381	T	-0.614717	0.00119	T	-0.638855	0.09753	T	0.00821828713281253	0.00098	T	.	.	.	0.030433146	0.02707	0.08462599	0.19481	0.030433146	0.02706	0.08462599	0.19481	-3.728	0.19732	T	.	.	0.126	0.26886	B	.;.;.	.;.;.	1.542826	0.19785	14.43	0.89823851812728572	0.19134	0.09276	0.15065	N	AEFDGBHCI	0.099578	0.20041	N	-1.0622982690646	0.07348	0.3410551	-0.975248394405998	0.10343	0.5203191	0.999999959912266	0.74766	0.627647	0.40530	0	0.52208	0.09955	0	0.26897	0.05253	2	0.657601	0.63696	0	.	.	5.66	1.39	0.21325	0.790000	0.26562	.	.	-0.773000	0.03420	0.429000	0.26401	0.000000	0.08366	0.955000	0.50612	0.0:0.6904:0.0:0.3096	11.106	0.47423	862	0.33134	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014161	0.010101	0.006793	0.015957	0.000000	0.052632	0.027439	0.015152	0.07143	736.45	33	chr6	30685364	.	C	G	736.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.313;DP=245;ExcessHet=0;FS=2.208;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=2.05;SOR=0.404	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	6	0	1	0
chr6	30703983	30703983	C	T	exonic	MDC1	.	nonsynonymous SNV	MDC1:NM_014641:exon10:c.G5200A:p.A1734T	.	424	1017	74	7	0	88	0.0414703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0044	0.0165735	0.0110	0.0030	0.0063	0.0409	0.0048	0.0063	0.0132	0.0247	0.0104074	1609	154602	rs75355880	0.0079	0.0079	0.0072	0.0086	0.0759	0.0078	0.0077	0.0737	0.0728	0.0035	0.0078	0.0167	0.0759	0.0053	0.0338	0.0039	0.0100	0.0256	0.0075	0.0075	0.0067	0.0084	0.0438	0.0071	0.0070	0.0391	0.0373	0.0029	0.0088	0.0112	0.0176	0.0438	0.0058	0.0374	0.0053	0.0123	0.0199	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.672941	0.10325	N	0.808128	1	0.08975	N	-1.78	0.00307	N	3.55	0.04746	T	0.94	0.01529	N	0.013	0.00142	-0.9339	0.43560	T	0.001	0.00348	T	10	0.0020232499	0.00028	T	.	.	.	0.018	0.03083	.	.	.	.	0.06377326123958094	0.06316	0.189930224763	0.21315	0.234251990914	0.02297	T	0.016035	0.13332	T	-0.791146	0.00009	T	-0.844117	0.01039	T	0.0050463368276341	0.00054	T	.	.	.	0.014551189	0.00098	0.03780534	0.03512	0.014551189	0.00098	0.03780534	0.03512	-3.401	0.15070	T	.	.	0.074	0.05188	B	.	.	-0.522186	0.01798	0.139	0.65426518840499925	0.07769	0.00870	0.03447	N	AEFDGBCI	0.012979	0.00158	N	-1.56879976541179	0.01427	0.06226877	-1.55244441102163	0.01959	0.08944971	0.999923987511578	0.46280	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.05	-4.12	0.03650	-0.676000	0.05321	.	.	-0.130000	0.13190	0.000000	0.06391	0.000000	0.08366	0.106000	0.18562	0.289:0.2635:0.1486:0.299	0.290	0.00239	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.028867	0.010101	0.035326	0.031915	0.150000	0.068966	0.030488	0.018939	0.07143	879.53	36	chr6	30703983	.	C	T	879.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.208;DP=356;ExcessHet=0;FS=2.145;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=0.076;SOR=0.404	GT:AD:DP:GQ:PL	0/0:147,0:147:99:0,120,1800	6	0	1	0
chr6	30704192	30704192	G	C	exonic	MDC1	.	nonsynonymous SNV	MDC1:NM_014641:exon10:c.C4991G:p.T1664S	.	422	1019	74	7	0	88	0.0413923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	0.0043	0.0167732	0.0112	0.0030	0.0063	0.0421	0.0048	0.0063	0.0166	0.0258	0.0105885	1637	154602	rs80087328	0.0080	0.0080	0.0073	0.0087	0.0768	0.0079	0.0079	0.0745	0.0736	0.0034	0.0078	0.0167	0.0768	0.0053	0.0337	0.0039	0.0121	0.0263	0.0076	0.0077	0.0068	0.0085	0.0442	0.0073	0.0071	0.0395	0.0377	0.0029	0.0088	0.0114	0.0176	0.0442	0.0058	0.0374	0.0053	0.0180	0.0205	0.347	0.12428	T	0.529	0.10138	T	0.021	0.18474	B	0.018	0.18489	B	0.675874	0.10301	N	0.785142	1	0.08975	N	0.785	0.19527	N	2.67	0.12473	T	-0.85	0.23156	N	0.023	0.00407	-0.9176	0.45877	T	0.005	0.01833	T	10	0.0025712848	0.00039	T	.	.	.	0.006	0.00375	0.132	0.03662	.	.	0.052971124096217334	0.05239	0.176861744951	0.19898	0.229384556413	0.01923	T	0.022529	0.17353	T	-0.755738	0.00016	T	-0.796654	0.01987	T	0.00466072554484341	0.00050	T	.	.	.	0.021209378	0.00712	0.022170952	0.00247	0.021209378	0.00712	0.022170952	0.00247	-5.545	0.42287	T	.	.	0.094	0.14293	B	.	.	-0.958933	0.00831	0.028	0.77038592157196695	0.11711	0.12720	0.17439	N	AEFBCI	0.041463	0.06306	N	-1.47856639275995	0.02002	0.08794544	-1.55226613946532	0.01960	0.08950758	0.999416663980499	0.39577	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.93	-4.79	0.02966	-1.465000	0.02463	.	.	-0.858000	0.02657	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0832:0.239:0.1956:0.4822	3.408	0.06922	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.027778	0.015152	0.035326	0.031915	0.100000	0.051724	0.027439	0.018939	0.07143	1303.44	36	chr6	30704192	.	G	C	1303.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.019;DP=387;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=1.11;SOR=0.748	GT:AD:DP:GQ:PL	0/0:147,0:147:99:0,120,1800	6	0	1	0
chr6	30986534	30986534	C	T	exonic	MUC21	.	nonsynonymous SNV	MUC21:NM_001010909:exon2:c.C359T:p.A120V,MUC21:NM_001322370:exon3:c.C359T:p.A120V,MUC21:NM_001322371:exon3:c.C359T:p.A120V	.	427	1069	23	1	2	27	0.011558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00768161270413	.	.	0.0023	0.0005	0.0030	0.0001	0.0021	0.0022	0.0067	0.0040	0.0004226	11	26028	rs145298646	0.0002	0.0008	0.0002	0.0002	0.0072	0.0002	0.0002	0.0054	0.0048	0.0002	0.0002	0.0013	0	0.0010	0.0072	0.0001	0.0004	0.0002	0.0008	0.0011	0.0008	0.0009	0.0011	0.0007	0.0007	0.0008	0.0007	0.0002	0.0011	0.0011	0.0053	0	0.0010	0	0.0010	0.0029	0.0004	0.026	0.46910	D	0.13	0.34716	T	0.004	0.12183	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	1.87	0.49600	L	4.16	0.02791	T	-1.69	0.40274	N	0.015	0.00181	-0.9233	0.45098	T	0.002	0.00646	T	8	0.0043483377	0.00088	T	0.007682	0.20378	T	0.005	0.00259	.	.	0.0138822411134	0.00435	0.022653737281107	0.02217	0.13604173387	0.15343	0.175705850124	0.00061	T	0.006266	0.05707	T	-0.572595	0.00214	T	-0.654461	0.08644	T	0.0147811067918378	0.00310	T	0.377362	0.09032	T	0.079729676	0.18231	0.069277436	0.14574	0.079729676	0.18231	0.069277436	0.14574	-7.527	0.57801	D	.	.	0.160	0.35352	B	.	.	0.450072	0.08202	4.938	0.79200138766895023	0.12635	0.02275	0.06565	N	AEFDBI	0.049231	0.08484	N	-1.4073892480291	0.02573	0.1138163	-1.42176720136605	0.03035	0.1408197	0.49502021636049	0.20895	0.497415	0.19182	0	0.547309	0.14657	0	0.48864	0.07692	0	0.542086	0.14980	0	.	.	3.34	1.54	0.22290	-0.128000	0.10508	.	.	-0.376000	0.05418	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6451:0.0:0.3549	5.806	0.17700	923	0.18507	Tandem-repeating region of mucin, epiglycanin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.023420	0.000000	0.048913	0.005319	0.100000	0.017241	0.009146	0.003788	0.07143	2462.44	292	chr6	30986534	.	C	T	2462.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.277;DP=1924;ExcessHet=0;FS=2.243;MLEAC=1;MLEAF=0.071;MQ=59.17;MQRankSum=-4.13;QD=8.43;ReadPosRankSum=-3.634;SOR=0.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:350,0:350:99:.:.:0,120,1800:.	6	0	1	0
chr6	30986557	30986557	C	G	exonic	MUC21	.	nonsynonymous SNV	MUC21:NM_001010909:exon2:c.C382G:p.P128A,MUC21:NM_001322370:exon3:c.C382G:p.P128A,MUC21:NM_001322371:exon3:c.C382G:p.P128A	.	432	1067	20	1	2	24	0.0102041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	.	0.0497204	0.0002	0	0.0002	0	0.0002	0.0002	0	0	0.009605	250	26028	rs143481246	4.144e-05	0.0002	3.398e-05	4.916e-05	0.0009	3.209e-05	2.838e-05	0.0003	0.0002	4.121e-05	7.062e-05	0.0004	4.922e-05	0.0003	0.0009	2.147e-05	4.713e-05	1.829e-05	0.0015	0.0029	0.0016	0.0014	0.0017	0.0012	0.0011	0.0012	0.0011	0.0005	0.0037	0.0017	0.0133	0	0.0013	0	0.0016	0.0045	0	0.362	0.11844	T	0.788	0.04220	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	4.69	0.01694	T	0.25	0.04456	N	0.029	0.00666	-0.9268	0.44602	T	0.001	0.00255	T	8	0.004594803	0.00096	T	.	.	.	0.008	0.00669	.	.	0.0138822411134	0.00435	0.02024443971761337	0.01977	0.132602748589	0.14944	0.172138929367	0.00041	T	0.002269	0.01671	T	-0.357624	0.04266	T	-0.751478	0.03428	T	0.112471267731771	0.13678	T	0.273273	0.04638	T	0.015408391	0.00137	0.035834998	0.02910	0.015408391	0.00137	0.035834998	0.02909	-1.322	0.01437	T	.	.	0.060	0.00890	B	.	.	-1.329367	0.00414	0.008	0.24694693380172195	0.01104	0.00884	0.03485	N	AEFBI	0.034662	0.04332	N	-1.92231816904056	0.00309	0.01326451	-1.98828094274214	0.00324	0.01431717	0.744665633364085	0.23266	0.497415	0.19182	0	0.547309	0.14657	0	0.315538	0.05692	2	0.542086	0.14980	0	.	.	3.34	-5.44	0.02419	-3.452000	0.00519	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3821:0.2781:0.2052:0.1346	1.110	0.01598	923	0.18507	Tandem-repeating region of mucin, epiglycanin-like|Tandem-repeating region of mucin, epiglycanin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1538.23	281	chr6	30986557	.	C	G	1538.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.59;DP=1906;ExcessHet=0;FS=2.696;MLEAC=1;MLEAF=0.083;MQ=59.12;MQRankSum=-5.379;QD=5.47;ReadPosRankSum=-3.731;SOR=0.496	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:350,0:350:99:.:.:0,120,1800:.	5	0	1	1
chr6	30986558	30986558	C	T	exonic	MUC21	.	nonsynonymous SNV	MUC21:NM_001010909:exon2:c.C383T:p.P128L,MUC21:NM_001322370:exon3:c.C383T:p.P128L,MUC21:NM_001322371:exon3:c.C383T:p.P128L	.	427	1072	20	1	2	24	0.010157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	.	0.114617	0.0002	0.0001	0.0002	0	0.0002	0.0002	0	0	0.0247426	644	26028	rs146461318	0.0005	0.0009	0.0004	0.0005	0.0014	0.0004	0.0004	0.0010	0.0009	0.0007	0.0014	0.0022	0.0007	0.0004	0.0006	0.0004	0.0005	0.0003	0.0008	0.0022	0.0008	0.0009	0.0015	0.0007	0.0007	0.0009	0.0008	0.0005	0.0013	0.0015	0.0052	0	0.0008	0	0.0008	0.0024	0	0.112	0.28900	T	0.228	0.25286	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	4.65	0.01779	T	-1.0	0.26422	N	0.033	0.00882	-0.9862	0.33542	T	0.001	0.00348	T	8	0.003588736	0.00065	T	.	.	.	0.008	0.00669	.	.	0.0138822411134	0.00435	0.02662548264377311	0.02612	0.139710390956	0.15747	0.179393336177	0.00088	T	0.004786	0.04195	T	-0.634036	0.00090	T	-0.741301	0.03836	T	0.0453032806463648	0.04657	T	0.450155	0.12692	T	0.05932385	0.12043	0.06965914	0.14704	0.05932385	0.12043	0.06965914	0.14704	-4.688	0.33258	T	.	.	0.096	0.15296	B	.	.	-0.346844	0.02419	0.272	0.4402007453429761	0.03355	0.00985	0.03747	N	AEFBI	0.043950	0.07012	N	-1.37102683541937	0.02913	0.1293467	-1.39345846531643	0.03321	0.1546911	0.0981242909096301	0.16297	0.497415	0.19182	0	0.547309	0.14657	0	0.315538	0.05692	2	0.542086	0.14980	0	.	.	3.34	0.415	0.15628	-4.557000	0.00249	.	.	-1.148000	0.01430	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6864:0.0:0.3136	7.284	0.25505	923	0.18507	Tandem-repeating region of mucin, epiglycanin-like|Tandem-repeating region of mucin, epiglycanin-like	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.118192	0.111111	0.119565	0.079787	0.100000	0.129310	0.121951	0.090909	0.07143	1534.44	374	chr6	30986558	.	C	T	1534.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.8;DP=1790;ExcessHet=0;FS=10.108;MLEAC=1;MLEAF=0.071;MQ=59.13;MQRankSum=-3.894;QD=6.34;ReadPosRankSum=-3.993;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:350,0:350:99:.:.:0,120,1800:.	6	0	1	0
chr6	30986566	30986566	G	A	exonic	MUC21	.	nonsynonymous SNV	MUC21:NM_001010909:exon2:c.G391A:p.G131R,MUC21:NM_001322370:exon3:c.G391A:p.G131R,MUC21:NM_001322371:exon3:c.G391A:p.G131R	.	431	1067	22	1	1	25	0.0111214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00950271359042	.	.	8.268e-05	0	0.0002	0	0.0002	0.0001	0	0	3.84e-05	1	26028	rs764373351	1.124e-05	7.94e-05	9.775e-06	1.271e-05	8.254e-06	6.65e-06	5.38e-06	3.88e-06	2.81e-06	0	0	0.0002	0	3.871e-05	0	8.254e-06	1.727e-05	0	0.0003	0.0008	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	7.361e-05	0.0011	0.0003	0.0024	0	0.0002	0	0.0003	0.0005	0	0.012	0.54683	D	0.077	0.42436	T	0.981	0.59675	D	0.813	0.58748	P	.	.	.	.	0.99553	0.42735	D	1.845	0.48678	L	4.06	0.03063	T	-3.03	0.62747	D	0.146	0.14763	-0.8618	0.51133	T	0.008	0.02720	T	8	0.09402475	0.16687	T	0.009503	0.24878	T	0.092	0.26621	0.432	0.48171	0.0986583533028	0.09354	0.01641760695060465	0.01597	0.164144482972	0.18523	0.184902384877	0.00148	T	0.019682	0.15634	T	-0.237662	0.15648	T	-0.579162	0.14619	T	0.237693130970001	0.22312	T	0.581942	0.21082	T	0.18017535	0.39126	0.19048621	0.42454	0.18017535	0.39126	0.19048621	0.42453	-7.248	0.55825	T	.	.	0.114	0.22609	B	.	.	1.162377	0.15516	11.91	0.63329101435316459	0.07195	0.09434	0.15190	N	AEFBI	0.085086	0.17247	N	-0.328701875930033	0.28062	1.544745	-0.513909145741143	0.21776	1.179572	0.834675271398543	0.24756	0.497415	0.19182	0	0.547309	0.14657	0	0.315538	0.05692	2	0.542086	0.14980	0	.	.	2.78	2.78	0.31702	-0.136000	0.10384	.	.	0.513000	0.23382	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:1.0:0.0	9.301	0.37008	923	0.18507	Tandem-repeating region of mucin, epiglycanin-like|Tandem-repeating region of mucin, epiglycanin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1147.44	273	chr6	30986566	.	G	A	1147.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.03;DP=1781;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.04;MQRankSum=-5.832;QD=4.2;ReadPosRankSum=-4.767;SOR=0.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:350,0:350:99:.:.:0,120,1800:.	6	0	1	0
chr6	30986916	30986916	-	GTGT	exonic	MUC21	.	frameshift insertion	MUC21:NM_001010909:exon2:c.741_742insGTGT:p.P248Vfs*13,MUC21:NM_001322371:exon3:c.741_742insGTGT:p.T248Vfs*13,MUC21:NM_001322370:exon4:c.741_742insGTGT:p.T248Vfs*13	.	469	1008	16	1	28	46	0.00884956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0011	0.0007	0.0009	0.0005	0.0016	0	0.0006	.	.	.	rs781771855	0.0060	0.0077	0.0058	0.0062	0.0206	0.0059	0.0058	0.0193	0.0188	0.0067	0.0107	0.0196	0.0206	0.0098	0.0054	0.0047	0.0099	0.0054	0.0025	0.0044	0.0021	0.0029	0.0071	0.0023	0.0022	0.0058	0.0053	0.0012	0	0.0071	0.0093	0.0017	0.0017	0	0.0024	0.0021	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	9493.2	40	chr6	30986916	.	A	AGTGT	9493.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=5.02;DP=1528;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=57.49;MQRankSum=-5.243;QD=16.65;ReadPosRankSum=0.741;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:234,187:421:99:0|1:30986907_G_C:6742,0,9084:30986907	5	0	2	0
chr6	30986917	30986917	-	CAGTGGGGCCAGCACTGCCACCAACTCTGAGTCCAGCACGA	exonic	MUC21	.	frameshift insertion	MUC21:NM_001010909:exon2:c.742_743insCAGTGGGGCCAGCACTGCCACCAACTCTGAGTCCAGCACGA:p.S249Vfs*208,MUC21:NM_001322371:exon3:c.742_743insCAGTGGGGCCAGCACTGCCACCAACTCTGAGTCCAGCACGA:p.S249Vfs*268,MUC21:NM_001322370:exon4:c.742_743insCAGTGGGGCCAGCACTGCCACCAACTCTGAGTCCAGCACGA:p.S249Vfs*238	.	464	909	105	3	41	152	0.0575428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.0010	0.0006	0.0011	0.0005	0.0017	0	0.0008	.	.	.	rs746182888	0.0071	0.0082	0.0068	0.0073	0.0307	0.0069	0.0069	0.0289	0.0281	0.0082	0.0135	0.0253	0.0307	0.0118	0.0069	0.0054	0.0120	0.0064	0.0037	0.0061	0.0031	0.0044	0.0102	0.0034	0.0032	0.0083	0.0076	0.0019	0	0.0102	0.0120	0.0028	0.0020	0	0.0033	0.0031	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	10061.2	40	chr6	30986917	.	C	CCAGTGGGGCCAGCACTGCCACCAACTCTGAGTCCAGCACGA	10061.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=5.18;DP=1533;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=57.52;MQRankSum=-5.308;QD=17.68;ReadPosRankSum=-1.1;SOR=0.721	GT:AD:DP:GQ:PL	0/1:227,195:423:99:7344,0,9045	5	0	2	0
chr6	31028713	31028713	C	0	exonic	MUC22	.	.	.	.	482	658	261	50	71	432	0.215265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	26311.6	446	chr6	31028713	.	C	*	26311.6	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.4;DP=3269;ExcessHet=1.1394;FS=0.523;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=-0.686;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:474,0:474:99:.:.:0,120,1800:.	6	0	1	0
chr6	31029812	31029812	T	0	exonic	MUC22	.	.	.	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3604.69	533	chr6	31029812	.	T	*	3604.69	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.759;DP=3655;ExcessHet=1.383;FS=0.523;MLEAC=2;MLEAF=0.167;MQ=59.69;MQRankSum=-2.912;QD=1.81;ReadPosRankSum=-3.068;SOR=0.642	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:809,0:809:0:.:.:0,0,0:.	4	0	2	1
chr6	31138459	31138459	G	A	exonic	PSORS1C1	.	nonsynonymous SNV	PSORS1C1:NM_014068:exon4:c.G43A:p.G15S	.	434	1012	71	5	0	81	0.0384798	0.8953	0.78	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0038	0.028155	0.0171	0.0062	0.0180	0.0502	0.0005	0.0018	0.0126	0.0719	0.0147152	2275	154602	rs79592231	0.0087	0.0087	0.0063	0.0111	0.0830	0.0086	0.0085	0.0806	0.0797	0.0068	0.0158	0.0020	0.0830	0.0005	0.0389	0.0014	0.0079	0.0711	0.0070	0.0070	0.0059	0.0080	0.0561	0.0066	0.0065	0.0506	0.0484	0.0057	0	0.0105	0.0014	0.0497	0.0006	0.0102	0.0015	0.0109	0.0561	0.596	0.05703	T	0.632	0.07150	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.30297	N	0	0.06538	N	2.93	0.09822	T	-2.0	0.46146	N	0.129	0.12341	-0.9064	0.47285	T	0.003	0.01059	T	9	0.0019145608	0.00026	T	0.005003	0.12629	T	0.014	0.01968	.	.	.	.	0.011174808878009649	0.01077	0.395066701546	0.40657	0.272165417671	0.06425	T	0.003193	0.02596	T	-0.758823	0.00015	T	-0.785295	0.02297	T	0.000963482096187824	0.00009	T	.	.	.	0.028497277	0.02197	0.06630027	0.13561	0.028497277	0.02196	0.06630027	0.13561	-3.309	0.13853	T	.	.	0.124	0.26042	B	.	.	1.916377	0.24341	16.36	0.6355789699833716	0.07255	0.00820	0.03314	N	AEFBI	0.054998	0.10047	N	-1.8206001834593	0.00497	0.0213779	-1.85822435189454	0.00590	0.02621353	0.964727559517347	0.28780	0.554377	0.28877	0	0.547309	0.14657	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	2.34	-2.07	0.06873	-1.162000	0.03252	.	.	-1.866000	0.00557	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4029:0.2015:0.3955	3.524	0.07308	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.028403	0.010101	0.010870	0.086957	0.000000	0.035088	0.037037	0.041667	0.1429	3829.32	36	chr6	31138459	.	G	A	3829.32	.	AC=2;AF=0.143;AN=14;DP=398;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.15;SOR=0.993	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	6	1	0	0
chr6	31269983	31269983	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G998A:p.C333Y,HLA-C:NM_002117:exon5:c.G998A:p.C333Y	.	28	1411	77	6	0	89	0.0305737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	.	.	0.023762	0.0107	0.0581	0.0088	0.0010	0.0033	0.0074	0.0108	0.0041	0.005302	138	26028	rs1143551	3.892e-05	0.0019	3.328e-05	4.473e-05	0.0018	2.76e-05	2.395e-05	0.0012	0.0010	0.0003	0	0	0.0018	0	0	7.971e-06	0	2.755e-05	1.559e-05	0.0046	2.983e-05	0	7.996e-05	0	0	.	.	7.996e-05	0	0	0	0	0	0	0	0	0	0.008	0.58626	D	0.442	0.13252	T	0.995	0.67487	D	0.994	0.82059	D	0.961562	0.07721	U	1.025580	1	0.08975	N	.	.	.	5.73	0.00734	T	0.65	0.03297	N	0.057	0.02861	-0.8215	0.53840	T	0.003	0.00864	T	10	0.003534168	0.00063	T	.	.	.	0.118	0.32913	.	.	.	.	0.10940588369650811	0.10869	1.83665520473	0.92112	0.236690431833	0.02500	T	0.006219	0.05657	T	-0.539837	0.00336	T	-0.495566	0.22809	T	0.025896967573812	0.01391	T	0.125887	0.05243	T	.	.	.	.	.	.	.	.	-4.931	0.36082	T	.	.	0.069	0.05491	B	.;.;.	.;.;.	2.340305	0.29987	18.30	0.88826057933371938	0.18286	0.03000	0.07863	N	AEFDBHCI	0.080062	0.16180	N	-0.340673899973216	0.27617	1.51662	-0.569206718883037	0.20298	1.092952	0.999999382160841	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.76	1.86	0.24489	-1.132000	0.03346	.	.	-0.419000	0.05236	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.8191:0.0:0.1809	4.945	0.13338	934	0.15400	.;.;.	.	.	.	.	rs147538248	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025967	0.010526	0.054496	0.015957	0.150000	0.017241	0.000000	0.019084	0.07143	992.63	106	chr6	31269983	.	C	T	992.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.508;DP=664;ExcessHet=0;FS=0.74;MLEAC=1;MLEAF=0.071;MQ=57.52;MQRankSum=-7.073;QD=9.36;ReadPosRankSum=2.33;SOR=0.844	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:163,0:163:99:.:.:0,120,1800:.	6	0	1	0
chr6	31269984	31269984	A	G	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.T997C:p.C333R,HLA-C:NM_002117:exon5:c.T997C:p.C333R	.	28	1411	77	6	0	89	0.0305737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	.	.	0.0223642	0.0105	0.0576	0.0087	0.0001	0.0033	0.0073	0.0108	0.0041	0.005033	131	26028	rs41560617	1.038e-05	0.0019	1.28e-05	7.893e-06	0.0003	4.46e-06	3.23e-06	6.847e-05	3.638e-05	0.0003	0	0	0	0	0	6.376e-06	0	2.755e-05	1.569e-05	0.0046	3.001e-05	0	8.044e-05	0	0	.	.	8.044e-05	0	0	0	0	0	0	0	0	0	0.007	0.72154	D	0.273	0.22154	T	0.995	0.67487	D	0.994	0.82059	D	0.961562	0.07721	U	1.025580	1	0.08975	N	.	.	.	5.71	0.00734	T	-1.34	0.33401	N	0.105	0.08925	-0.8562	0.51534	T	0.002	0.00707	T	10	0.0034644306	0.00061	T	.	.	.	0.100	0.28662	.	.	.	.	0.19501021438939248	0.19419	1.88329240083	0.92632	0.232454329729	0.02155	T	0.035636	0.23797	T	-0.554439	0.00274	T	-0.515736	0.20728	T	0.0335258512546306	0.02558	T	0.185981	0.08182	T	.	.	.	.	.	.	.	.	-3.564	0.17338	T	.	.	0.097	0.21877	B	.;.;.	.;.;.	1.353108	0.17613	13.27	0.82700432174482796	0.14329	0.01625	0.05246	N	AEFDBHCI	0.078806	0.15908	N	-0.559233629742458	0.20195	1.062845	-0.820899333920841	0.13990	0.7286657	0.999999254125092	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.76	-2.0	0.07024	-0.417000	0.07153	.	.	-1.050000	0.01643	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3421:0.0:0.0:0.6579	6.411	0.20895	934	0.15400	.;.;.	.	.	.	.	rs140243942	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016648	0.005263	0.032967	0.010638	0.150000	0.017241	0.000000	0.007634	0.07143	999.63	107	chr6	31269984	.	A	G	999.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.185;DP=663;ExcessHet=0;FS=1.572;MLEAC=1;MLEAF=0.071;MQ=57.5;MQRankSum=-6.948;QD=9.34;ReadPosRankSum=2.43;SOR=0.886	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:163,0:163:99:.:.:0,120,1800:.	6	0	1	0
chr6	31269985	31269985	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G996A:p.M332I,HLA-C:NM_002117:exon5:c.G996A:p.M332I	.	28	1411	77	6	0	89	0.0305737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	.	.	0.023762	0.0106	0.0578	0.0087	0.0001	0.0033	0.0074	0.0108	0.0041	0.005302	138	26028	rs41540416	1.038e-05	0.0019	1.28e-05	7.893e-06	0.0003	4.46e-06	3.23e-06	6.83e-05	3.634e-05	0.0003	0	0	0	0	0	6.376e-06	0	2.755e-05	1.558e-05	0.0046	2.982e-05	0	7.991e-05	0	0	.	.	7.991e-05	0	0	0	0	0	0	0	0	0	0.03	0.53172	D	0.274	0.22084	T	0.0	0.02946	B	0.001	0.04355	B	0.427676	0.12789	U	0.657459	1	0.08975	N	.	.	.	5.85	0.00662	T	-0.81	0.22294	N	0.035	0.01004	-0.9409	0.42473	T	0.001	0.00222	T	10	0.010112762	0.00226	T	.	.	.	0.109	0.30843	0.333	0.32005	.	.	0.09930668900732408	0.09861	0.548098038175	0.51770	0.312004953623	0.12210	T	0.014848	0.12562	T	-0.586337	0.00176	T	-0.562359	0.16155	T	2.40141039539106e-05	0.00000	T	0.739226	0.35772	T	.	.	.	.	.	.	.	.	-5.08	0.37696	T	.	.	0.159	0.39442	B	.;.;.	.;.;.	0.799758	0.11705	8.284	0.55643753892962067	0.05385	0.03006	0.07873	N	AEFDBHCI	0.063853	0.12364	N	-1.53604031898597	0.01618	0.07072133	-1.66313067783111	0.01309	0.05907979	0.999999998335067	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.76	-5.53	0.02351	-0.595000	0.05822	.	.	0.447000	0.21209	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.11:0.5672:0.1517:0.1711	4.091	0.09446	934	0.15400	.;.;.	.	.	.	.	rs145653234	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	999.63	107	chr6	31269985	.	C	T	999.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.536;DP=661;ExcessHet=0;FS=1.572;MLEAC=1;MLEAF=0.071;MQ=57.45;MQRankSum=-6.948;QD=9.34;ReadPosRankSum=2.39;SOR=0.886	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:163,0:163:99:.:.:0,120,1800:.	6	0	1	0
chr6	31270002	31270002	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G979A:p.V327M,HLA-C:NM_002117:exon5:c.G979A:p.V327M	.	42	1035	385	60	0	505	0.196117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	.	0.141573	0.1174	0.1904	0.1851	0.0488	0.1727	0.1036	0.1330	0.0921	0.102534	15852	154602	rs146911342	1.427e-05	0.0053	1.28e-05	1.579e-05	0.0002	7.66e-06	5.6e-06	8.98e-05	6.321e-05	0.0002	0	0	0	0	0	3.189e-06	0	0.0002	3.138e-05	0.0086	0	6.583e-05	0.0002	5.21e-06	1.95e-06	2.84e-05	1.186e-05	0.0002	0	0	0	0	0	0	0	0	0	0.047	0.40319	D	0.062	0.46406	T	0.023	0.18885	B	0.021	0.22741	B	.	.	.	.	1	0.08975	P	.	.	.	5.37	0.01042	T	-1.48	0.36980	N	0.17	0.18103	-0.9653	0.38151	T	0.002	0.00585	T	8	0.0033346713	0.00058	T	.	.	.	0.084	0.24469	.	.	.	.	0.14371634720666823	0.14294	0.510872535537	0.49183	0.311629235744	0.12153	T	0.095	0.39449	T	-0.600027	0.00146	T	-0.490854	0.23302	T	0.00723602823328332	0.00083	T	0.783822	0.42110	T	.	.	.	.	.	.	.	.	-7.182	0.55352	T	.	.	0.119	0.26388	B	.;.;.	.;.;.	1.630154	0.20816	14.92	0.35910209056378567	0.02280	0.09829	0.15495	N	AEFDBHCI	0.041671	0.06366	N	-0.93655345300227	0.09997	0.4756529	-1.07653106513011	0.08164	0.4002044	0.999999182371296	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	-1.63	0.07900	0.654000	0.24603	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.34:0.3867:0.2733	3.715	0.07965	934	0.15400	.;.;.	.	.	.	.	chr6:31237779	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.069628	0.045455	0.089552	0.028090	0.000000	0.046296	0.069930	0.077236	0.1429	4775.65	99	chr6	31270002	.	C	T	4775.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.148;DP=653;ExcessHet=0.3476;FS=1.479;MLEAC=2;MLEAF=0.143;MQ=59.22;MQRankSum=0.611;QD=17.82;ReadPosRankSum=1.06;SOR=0.58	GT:AD:DP:GQ:PL	0/0:176,0:176:99:0,120,1800	5	0	2	0
chr6	31270037	31270037	-	GGACAGCCAGGACAGCTG	exonic	HLA-C	.	nonframeshift insertion	HLA-C:NM_001243042:exon5:c.943_944insCAGCTGTCCTGGCTGTCC:p.G314_L315insPAVLAV,HLA-C:NM_002117:exon5:c.943_944insCAGCTGTCCTGGCTGTCC:p.L315delinsPAVLAVL	.	12	1426	78	6	0	90	0.0305914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0083	0.0444	0.0068	0	0.0023	0.0058	0.0116	0.0031	0.0006916	18	26028	rs148706212	1.686e-05	0.0015	1.28e-05	2.105e-05	0.0003	9.41e-06	7.25e-06	0.0001	6.813e-05	0.0003	0	0	0	7.638e-05	0	7.971e-06	0	5.504e-05	1.542e-05	0.0032	2.954e-05	0	7.854e-05	0	0	.	.	7.854e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1260.5	84	chr6	31270037	.	A	AGGACAGCCAGGACAGCTG	1260.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.58;DP=619;ExcessHet=0;FS=19.131;MLEAC=1;MLEAF=0.071;MQ=57.84;MQRankSum=-7.051;QD=15.01;ReadPosRankSum=-1.278;SOR=2.443	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:170,0:170:99:.:.:0,120,1800:.	6	0	1	0
chr6	31270044	31270044	C	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G937T:p.A313S,HLA-C:NM_002117:exon5:c.G937T:p.A313S	.	8	1430	78	6	0	90	0.0305085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	.	.	0.0209665	0.0084	0.0454	0.0069	0	0.0026	0.0058	0.0093	0.0031	0.0047641	124	26028	rs41545712	2.854e-05	0.0015	2.303e-05	3.42e-05	0.0005	1.868e-05	1.595e-05	0.0002	0.0001	0.0005	0.0002	0	0	0	0	1.116e-05	0	0.0002	0	0.0034	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.014	0.53172	D	0.029	0.54541	D	0.996	0.68779	D	0.989	0.78396	D	0.131306	0.18627	U	0.374715	1	0.08975	N	.	.	.	5.57	0.00853	T	-1.44	0.35991	N	0.144	0.14763	-0.9472	0.41448	T	0.005	0.01833	T	10	0.0030748248	0.00051	T	.	.	.	0.083	0.24192	.	.	0.269111216191	0.26524	0.1421143076834137	0.14134	1.33609069953	0.83747	0.211957156658	0.00897	T	0.028319	0.20539	T	-0.492036	0.00633	T	-0.426902	0.30286	T	0.0487267516968755	0.05274	T	0.611339	0.23205	T	.	.	.	.	.	.	.	.	-8.281	0.62969	D	.	.	0.131	0.31633	B	.;.;.	.;.;.	2.795962	0.36766	20.3	0.47016589134919956	0.03811	0.09575	0.15300	N	AEFBHCI	0.067665	0.13312	N	-0.316326039818362	0.28527	1.574243	-0.572322111535915	0.20216	1.088159	0.999995248611718	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	1.75	0.23707	0.708000	0.25393	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.7284:0.2716:0.0	7.416	0.26217	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1131.53	84	chr6	31270044	.	C	A	1131.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.91;DP=610;ExcessHet=0;FS=12.224;MLEAC=1;MLEAF=0.071;MQ=58.08;MQRankSum=-6.788;QD=13.47;ReadPosRankSum=-1.079;SOR=2.052	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:170,0:170:99:.:.:0,120,1800:.	6	0	1	0
chr6	31270056	31270056	T	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.A925T:p.M309L,HLA-C:NM_002117:exon5:c.A925T:p.M309L	.	81	51	300	1006	84	2396	0.957746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	.	.	0.0177716	0.0078	0.0433	0.0067	0.0001	0.0026	0.0052	0.0092	0.0028	0.0070245	1086	154602	rs1050180	2.484e-05	0.0016	2.064e-05	2.915e-05	0.0005	1.588e-05	1.28e-05	0.0002	0.0002	0.0005	0.0001	0	0	0	0	1.125e-05	0	0.0001	3.397e-05	0.0042	3.245e-05	3.565e-05	8.98e-05	5.64e-06	2.11e-06	.	.	8.98e-05	0	0	0	0	0	0	3.028e-05	0	0	0.018	0.50676	D	0.125	0.36101	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.82	0.00657	T	-0.4	0.14978	N	0.067	0.04307	-1.0040	0.28755	T	0.001	0.00378	T	9	0.0030311644	0.00050	T	.	.	.	0.120	0.33359	0.407	0.44066	0.0762999501168	0.06990	0.10785664231938592	0.10714	0.459405056151	0.45523	0.250036120415	0.03772	T	0.006007	0.05450	T	-0.585568	0.00178	T	-0.561255	0.16258	T	0.00351274895036235	0.00037	T	0.210379	0.02537	T	.	.	.	.	.	.	.	.	-5.459	0.41483	T	.	.	0.115	0.25850	B	.;.;.	.;.;.	0.455434	0.08254	4.996	0.33681637653518909	0.02019	0.04374	0.09949	N	AEFBHCI	0.092565	0.18738	N	-1.68195883182571	0.00907	0.0392893	-1.81546310783018	0.00711	0.03167287	0.999999606301239	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	-3.63	0.04238	-3.041000	0.00696	.	.	-2.073000	0.00407	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2105:0.0:0.7895	10.581	0.44447	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	19069.4	79	chr6	31270056	.	T	A	19069.4	.	AC=1;AF=0.071;AN=14;DP=616;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.65;QD=33.28;SOR=0.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:172:99:.:.:4918,4918,4918:.	6	0	1	0
chr6	31270058	31270058	A	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.T923A:p.I308N,HLA-C:NM_002117:exon5:c.T923A:p.I308N	.	12	1426	78	6	0	90	0.0305914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	.	0.0177716	0.0074	0.0413	0.0064	0	0.0023	0.0048	0.0094	0.0028	0.0067399	1042	154602	rs1065600	2.596e-05	0.0015	1.792e-05	3.422e-05	0.0005	1.695e-05	1.377e-05	0.0002	0.0001	0.0005	0.0001	0	0	0	0	1.116e-05	0	0.0001	3.11e-05	0.0036	2.984e-05	3.246e-05	8.032e-05	5.16e-06	1.93e-06	.	.	8.032e-05	0	0	0	0	0	0	2.806e-05	0	0	0.018	0.50676	D	0.115	0.36901	T	0.009	0.15093	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	.	.	.	5.57	0.00885	T	-2.98	0.63901	D	0.388	0.43126	-0.9207	0.45458	T	0.001	0.00408	T	9	0.0062720776	0.00141	T	.	.	.	0.099	0.28413	.	.	0.218845423259	0.21516	0.2566185313009967	0.25575	0.884575161911	0.69923	0.31632065773	0.12863	T	0.076917	0.35532	T	-0.5501	0.00291	T	-0.510308	0.21283	T	0.0162875932992256	0.00399	T	0.744226	0.36418	T	.	.	.	.	.	.	.	.	-11.318	0.81373	D	.	.	0.165	0.37063	B	.;.;.	.;.;.	1.685546	0.21476	15.22	0.38430128270477487	0.02591	0.04413	0.10003	N	AEFBHCI	0.090071	0.18254	N	-1.08415255846282	0.06935	0.3206675	-1.2503667729414	0.05126	0.2434891	0.999998478398119	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	-3.55	0.04343	-0.480000	0.06639	.	.	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.332:0.2018:0.2683:0.1978	0.327	0.00290	934	0.15400	.;.;.	.	.	.	.	rs182216723	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1132.53	80	chr6	31270058	.	A	T	1132.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.21;DP=525;ExcessHet=0;FS=7.737;MLEAC=1;MLEAF=0.071;MQ=58.28;MQRankSum=-5.546;QD=14.16;ReadPosRankSum=-2.176;SOR=1.519	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:133,0:133:99:.:.:0,120,1800:.	6	0	1	0
chr6	31270250	31270250	C	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon4:c.G855T:p.M285I,HLA-C:NM_002117:exon4:c.G855T:p.M285I	.	42	1114	319	47	0	413	0.15638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	.	0.147564	0.0652	0.1246	0.0907	0.0399	0.0897	0.0532	0.0972	0.0679	0.0598505	9253	154602	rs41540117	0.0001	0.0045	5.08e-05	0.0002	0.0011	0.0001	0.0001	0.0008	0.0007	0.0005	0.0002	0.0001	0.0002	3.795e-05	0	7.457e-05	0.0001	0.0011	1.561e-05	0.0024	2.991e-05	0	0.0002	0	0	.	.	0	0	0.0002	0	0	0	0	0	0	0	0.001	0.78490	D	0.017	0.60337	D	0.0	0.07471	B	0.0	0.11217	B	0.002056	0.37364	U	0.000000	1	0.08975	P	.	.	.	4.31	0.02412	T	1.0	0.01408	N	0.102	0.08506	-1.1114	0.02952	T	0.009	0.03448	T	9	0.0022325218	0.00032	T	.	.	.	0.144	0.38394	0.415	0.45380	.	.	0.40286916197994754	0.40202	0.54758036057	0.51724	0.374997138977	0.21546	T	0.020473	0.16112	T	-0.107029	0.35259	T	-0.391516	0.34375	T	0.0737698282644503	0.09171	T	0.523848	0.17660	T	.	.	.	.	.	.	.	.	-3.499	0.16417	T	.	.	0.17	0.38135	B	.;.;.	.;.;.	1.839496	0.23369	15.99	0.41265010250660528	0.02966	0.31228	0.24284	N	AEFBCI	0.105352	0.21052	N	-0.385752648738085	0.25975	1.414194	-0.472263407324781	0.22921	1.247408	0.999999560978343	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	2.67	0.30756	1.360000	0.33729	.	.	0.539000	0.25131	0.893000	0.31264	0.000000	0.08366	0.008000	0.08271	0.0:1.0:0.0:0.0	9.019	0.35351	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	rs115240290	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.091557	0.090909	0.091281	0.080645	0.150000	0.025862	0.129630	0.109848	0.1429	934.65	77	chr6	31270250	.	C	A	934.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.861;DP=406;ExcessHet=0.3476;FS=9.238;MLEAC=2;MLEAF=0.143;MQ=48.45;MQRankSum=1.65;QD=7.19;ReadPosRankSum=-1.64;SOR=1.404	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:131,0:131:99:.:.:0,120,1800:.	5	0	2	0
chr6	31271082	31271082	G	C	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.C610G:p.Q204E,HLA-C:NM_002117:exon3:c.C610G:p.Q204E	.	0	1440	82	0	0	82	0.027684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00176875394672	.	.	0.0012	0.0025	0.0003	0	0.0008	0.0012	0	0.0018	0.0011449	177	154602	rs796429498	0.0002	0.0006	0.0001	0.0002	0.0007	0.0001	0.0001	0.0003	0.0003	0.0006	0.0003	0.0005	0	0	0.0007	0.0001	0.0002	0.0001	1.508e-05	0.0004	0	3.15e-05	7.378e-05	0	0	.	.	7.378e-05	0	0	0	0	0	0	0	0	0	0.012	0.63226	D	0.137	0.33894	T	0.0	0.02946	B	0.002	0.06944	B	0.065850	0.02193	U	2.663580	0.995838	0.23771	N	.	.	.	9.55	0.00007	T	-1.96	0.46503	N	0.037	0.01498	-0.9192	0.45662	T	0.000	0.00039	T	10	0.03142172	0.01277	T	0.001769	0.03012	T	0.198	0.48105	.	.	0.264547087235	0.26054	0.06743973031026444	0.06681	0.534207440331	0.50835	0.27684956789	0.07057	T	0.037706	0.24575	T	-0.155279	0.27488	T	-0.460824	0.26509	T	0.0457982197301059	0.04748	T	0.158184	0.01407	T	.	.	.	.	.	.	.	.	-11.787	0.83797	D	.	.	0.098	0.16275	B	.;.;.	.;.;.	1.963241	0.24940	16.58	0.64928230975864176	0.07629	0.20245	0.20969	N	AEFBHCI	0.099613	0.20048	N	-0.567676259610921	0.19933	1.047056	-0.569709590382082	0.20285	1.092179	0.999994312471089	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.55	1.64	0.22949	0.047000	0.13941	.	.	0.594000	0.32500	0.047000	0.21291	0.000000	0.08366	0.076000	0.17014	0.0:0.2329:0.529:0.2381	5.117	0.14173	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003788	0.010101	0.004076	0.000000	0.000000	0.000000	0.003049	0.003788	0.1429	1633.25	102	chr6	31271082	.	G	C	1633.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.01;DP=739;ExcessHet=0.3476;FS=16.55;MLEAC=2;MLEAF=0.143;MQ=55.97;MQRankSum=-5.167;QD=5.77;ReadPosRankSum=-3.421;SOR=1.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:152,0:152:99:.:.:0,120,1800:.	5	0	2	0
chr6	31271089	31271089	C	G	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G603C:p.E201D,HLA-C:NM_002117:exon3:c.G603C:p.E201D	.	0	1433	89	0	0	89	0.0301184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00327990498179	.	.	0.0012	0.0025	0.0003	0	0.0008	0.0012	0	0.0018	0.0011319	175	154602	rs17413678	0.0001	0.0006	0.0001	0.0002	0.0007	0.0001	0.0001	0.0004	0.0003	0.0007	0.0002	0.0005	0	3.395e-05	0.0003	0.0001	7.186e-05	0.0001	1.497e-05	0.0004	0	3.125e-05	7.252e-05	0	0	.	.	7.252e-05	0	0	0	0	0	0	0	0	0	0.014	0.59928	D	0.214	0.26549	T	0.0	0.02946	B	0.001	0.06944	B	0.463348	0.04883	N	1.613380	0.999565	0.21423	N	.	.	.	5.65	0.00784	T	-1.57	0.38924	N	0.068	0.04072	-0.9059	0.47343	T	0.000	0.00114	T	10	0.017638266	0.00378	T	0.00328	0.07268	T	0.222	0.51872	0.525	0.62967	0.18995819373	0.18626	0.10834935616144864	0.10763	0.446550992324	0.44524	0.299512207508	0.10328	T	0.039277	0.25133	T	-0.20222	0.20483	T	-0.528252	0.19461	T	0.0309767665415865	0.02142	T	0.309269	0.05988	T	.	.	.	.	.	.	.	.	-5.958	0.45926	T	.	.	0.112	0.25166	B	.;.;.	.;.;.	1.120113	0.15057	11.55	0.64405259372860457	0.07484	0.02110	0.06246	N	AEFBHCI	0.074243	0.14875	N	-1.34702669488082	0.03156	0.1405097	-1.25390729222346	0.05073	0.2408863	0.999991424455028	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.55	0.453	0.15851	-2.693000	0.00901	.	.	-0.340000	0.05703	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.3625:0.6374:0.0	10.048	0.41370	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007559	0.010101	0.013587	0.009709	0.000000	0.000000	0.003049	0.003788	0.1429	1770.25	109	chr6	31271089	.	C	G	1770.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.003;DP=767;ExcessHet=0.3476;FS=12.01;MLEAC=2;MLEAF=0.143;MQ=56.04;MQRankSum=-5.152;QD=5.84;ReadPosRankSum=-2.37;SOR=1.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:152,0:152:99:.:.:0,120,1800:.	5	0	2	0
chr6	31271148	31271148	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G544A:p.A182T,HLA-C:NM_002117:exon3:c.G544A:p.A182T	.	1	1353	168	0	0	168	0.0584551	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0240	.	0.0430	0.0121	0.1132	0.0579	0.0499	0.0394	0.0507	0.0168	0.03368	5207	154602	rs141142418	0.0006	0.0028	0.0006	0.0007	0.0011	0.0006	0.0006	0.0006	0.0005	0.0003	0.0008	0.0135	0.0001	0.0008	0.0011	0.0004	0.0009	0.0008	1.469e-05	0.0021	2.82e-05	0	2.718e-05	0	0	.	.	0	0	0	0	0	0	0	2.718e-05	0	0	0.047	0.40319	D	0.121	0.35970	T	0.822	0.45767	P	0.419	0.45047	B	0.795036	0.06734	U	1.179000	1	0.08975	N	.	.	.	5.66	0.00776	T	-0.89	0.24026	N	0.015	0.00181	-0.9671	0.37794	T	0.053	0.22501	T	10	0.0028352141	0.00045	T	.	.	.	0.119	0.33137	.	.	.	.	0.07332682000125977	0.07269	0.70685437836	0.61463	0.316008090973	0.12816	T	0.037375	0.24453	T	-0.522055	0.00428	T	-0.503075	0.22029	T	0.0104027637738938	0.00143	T	0.0633937	0.00461	T	.	.	.	.	.	.	.	.	-6.365	0.49236	T	.	.	0.098	0.18206	B	.;.;.	.;.;.	1.362665	0.17716	13.33	0.98029197626042341	0.37697	0.01653	0.05307	N	AEFGBHCI	0.078452	0.15829	N	-0.785009583433136	0.13700	0.6767906	-1.04354844085745	0.08841	0.4367424	0.999999235206876	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.81	-2.58	0.05866	-1.307000	0.02841	.	.	-0.270000	0.06752	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1642:0.2513:0.162:0.4225	0.915	0.01221	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.054595	0.055556	0.063859	0.009709	0.100000	0.077586	0.064417	0.041667	0.07143	1250.44	127	chr6	31271148	.	C	T	1250.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.454;DP=921;ExcessHet=0;FS=1.165;MLEAC=1;MLEAF=0.071;MQ=51.91;MQRankSum=3.7;QD=6.22;ReadPosRankSum=-0.008;SOR=0.582	GT:AD:DP:GQ:PL	0/1:134,67:201:99:1261,0,4575	6	0	1	0
chr6	31271153	31271153	A	0	exonic	HLA-C	.	.	.	.	0	22	11	0	193	204	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	6776.2	135	chr6	31271153	.	A	*	6776.2	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.61;DP=1032;ExcessHet=14.2834;FS=0;MLEAC=1;MLEAF=0.071;MQ=51.72;MQRankSum=-1.829;QD=6.68;ReadPosRankSum=-0.2;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:119,0:200:99:.:.:2847,3205,8171:.	6	0	1	0
chr6	31271193	31271193	T	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.A499T:p.T167S,HLA-C:NM_002117:exon3:c.A499T:p.T167S	.	1	1405	114	2	0	118	0.0403005	.	.	.	3893802	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.125	.	.	0.0335463	0.0171	0.0612	0.0102	0.0111	0.0070	0.0151	0.0148	0.0119	0.0013454	208	154602	rs142570222	0.0020	0.0089	0.0018	0.0022	0.0212	0.0019	0.0019	0.0195	0.0188	0.0212	0.0050	0.0157	0.0004	0.0009	0.0146	0.0010	0.0035	0.0035	0.0002	0.0092	0.0002	0.0003	0.0009	0.0001	0.0001	0.0005	0.0004	0.0009	0	0	0	0	0	0	8.097e-05	0	0	0.022	0.48642	D	0.207	0.27145	T	0.026	0.19406	B	0.041	0.23986	B	0.140159	0.18319	U	0.377560	1	0.08975	N	.	.	.	5.52	0.00903	T	-2.36	0.53577	N	0.201	0.22228	-0.9276	0.44487	T	0.002	0.00585	T	10	0.0053441823	0.00117	T	.	.	.	0.125	0.34456	0.712	0.84781	.	.	0.21857788014369137	0.21773	0.461279298288	0.45672	0.424038767815	0.28393	T	0.069533	0.33733	T	-0.490069	0.00649	T	-0.465695	0.25983	T	0.0170237571897238	0.00451	T	0.0849915	0.00624	T	.	.	.	.	.	.	.	.	-6.826	0.52752	T	.	.	0.169	0.37083	B	.;.;.	.;.;.	1.512869	0.19433	14.26	0.6761150136827524	0.08406	0.24039	0.22268	N	AEFDGBHCI	0.169307	0.29613	N	-0.613024539942439	0.18552	0.9640867	-0.655505705163185	0.18078	0.9641463	0.999999998364993	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.81	2.81	0.31971	1.346000	0.33569	.	.	-0.845000	0.02763	0.968000	0.34134	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.0:1.0	9.364	0.37375	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.062839	0.015152	0.107337	0.063725	0.100000	0.068966	0.018634	0.037879	0.07143	635.44	122	chr6	31271193	.	T	A	635.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.7;DP=938;ExcessHet=0;FS=2.983;MLEAC=1;MLEAF=0.071;MQ=50.97;MQRankSum=-0.723;QD=5.21;ReadPosRankSum=-1.231;SOR=1.047	GT:AD:DP:GQ:PL	0/0:198,0:198:99:0,120,1800	6	0	1	0
chr6	31271334	31271334	-	CC	exonic	HLA-C	.	frameshift insertion	HLA-C:NM_001243042:exon3:c.357_358insGG:p.Q120Gfs*32,HLA-C:NM_002117:exon3:c.357_358insGG:p.Q120fs	.	2	1358	160	1	1	163	0.0562891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0069	0.0046	0.0016	0.0007	0.0034	0.0049	0.0049	0.001921	50	26028	rs748394002	0.0001	0.0010	0.0001	0.0001	0.0008	9.76e-05	9.07e-05	0.0002	0.0002	5.481e-05	0.0001	0.0005	0.0003	6.819e-05	0.0008	8.739e-05	0.0001	0.0003	1.492e-05	0.0003	0	3.118e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0013	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1799.2	34	chr6	31271334	.	G	GCC	1799.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.242;DP=407;ExcessHet=0.3476;FS=1.388;MLEAC=2;MLEAF=0.143;MQ=58.32;MQRankSum=-0.398;QD=12.76;ReadPosRankSum=0;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,48:132:99:0|1:31271334_G_GCC:1661,0,3351:31271334	5	0	2	0
chr6	31271337	31271338	GG	-	exonic	HLA-C	.	frameshift deletion	HLA-C:NM_001243042:exon3:c.354_355del:p.L119Pfs*19,HLA-C:NM_002117:exon3:c.354_355del:p.T118fs	.	27	1333	161	1	0	163	0.0576175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0067	0.0047	0.0016	0.0007	0.0034	0.0050	0.0050	0.001921	50	26028	rs778339286	0.0001	0.0010	0.0001	0.0001	0.0008	9.287e-05	8.672e-05	0.0002	0.0001	5.51e-05	0.0001	0.0005	0.0003	6.851e-05	0.0008	8.505e-05	0.0001	0.0003	1.517e-05	0.0003	0	3.171e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0013	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1802.2	32	chr6	31271336	.	AGG	A	1802.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.242;DP=404;ExcessHet=0.3476;FS=0.66;MLEAC=2;MLEAF=0.143;MQ=58.44;MQRankSum=-0.512;QD=12.87;ReadPosRankSum=0.816;SOR=0.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,48:132:99:0|1:31271334_G_GCC:1661,0,3357:31271334	5	0	2	0
chr6	31271337	31271337	G	0	exonic	HLA-C	.	.	.	.	86	537	715	64	120	963	0.43975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2168.03	33	chr6	31271337	.	G	*	2168.03	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.369;DP=409;ExcessHet=4.7409;FS=1.991;MLEAC=2;MLEAF=0.143;MQ=58.21;MQRankSum=0.259;QD=6.78;ReadPosRankSum=-1.354;SOR=0.84	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,48:132:99:0|1:31271334_G_GCC:1661,0,3357:31271334	5	0	2	0
chr6	31355338	31355338	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A874G:p.K292E	.	1	1059	462	0	0	462	0.17907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	.	.	0.1873	0.2102	0.1521	0.2285	0.1750	0.1708	0.2005	0.2469	0.0006531	17	26028	rs41541515	1.925e-05	0.0003	1.916e-05	1.935e-05	6.078e-05	1.335e-05	1.149e-05	1.006e-05	3.76e-06	6.078e-05	0	0.0005	0	0	0	9.027e-06	3.34e-05	2.33e-05	6.22e-05	0.0011	8.537e-05	3.706e-05	7.636e-05	2.881e-05	2.058e-05	1.414e-05	6.92e-06	7.636e-05	0	0	0.0003	0	0.0001	0	5.327e-05	0	0	0.277	0.15665	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.026571	0.25897	N	0.181463	0.999999	0.08975	N	.	.	.	2.69	0.12268	T	1.44	0.00794	N	0.014	0.00160	-0.9487	0.41194	T	0.003	0.00800	T	10	0.0029622018	0.00048	T	.	.	.	0.023	0.04649	.	.	.	.	0.09070377229671633	0.09003	0.307519446834	0.33047	.	.	.	0.030329	0.21526	T	-0.267069	0.12086	T	-0.621403	0.11076	T	0.00635520461095454	0.00071	T	0.121988	0.02209	T	0.23476017	0.46301	0.11296048	0.27259	0.23476017	0.46301	0.11296048	0.27258	2.737	0.00027	T	.	.	0.051	0.01328	B	.;.;.;.	.;.;.;.	-0.115766	0.03549	0.681	0.33208941956949856	0.01966	0.00329	0.01719	N	AEFDBHCI	0.042199	0.06517	N	-1.61921237088875	0.01172	0.05092742	-1.59245928361148	0.01701	0.07728939	0.99999239206602	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	3.16	-1.11	0.09336	-2.713000	0.00887	.	.	-1.064000	0.01611	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.5345:0.1577:0.3077	4.780	0.12569	934	0.15400	.;Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin-like domain|Immunoglobulin C1-set;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.220557	0.202020	0.191576	0.234234	0.150000	0.250000	0.253049	0.268939	0.1429	55.06	68	chr6	31355338	.	T	C	55.06	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.292;DP=645;ExcessHet=0.3476;FS=11.119;MLEAC=1;MLEAF=0.071;MQ=59.07;MQRankSum=-5.788;QD=0.28;ReadPosRankSum=1.49;SOR=1.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,11:144:62:0|1:31355338_T_C:62,0,5500:31355338	5	0	2	0
chr6	31355425	31355425	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A787G:p.R263G	.	0	927	595	0	0	595	0.242956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	.	.	0.2427	0.2221	0.2151	0.2593	0.1977	0.2427	0.2413	0.2835	3.84e-05	1	26028	rs41545916	6.978e-05	0.0017	7.287e-05	6.665e-05	0.0004	5.837e-05	5.445e-05	6.35e-05	2.683e-05	6.07e-05	6.798e-05	0.0015	0	0	0.0004	3.628e-05	0.0001	8.195e-05	0.0003	0.0048	0.0004	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0003	0.0011	0.0003	0	0	0.0003	0.0007	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.017476	0.27716	N	0.165679	0.986046	0.24654	N	.	.	.	4.34	0.02341	T	3.3	0.00105	N	0.051	0.02272	-1.0151	0.25304	T	0.000	0.00114	T	10	0.0015430152	0.00017	T	.	.	.	0.070	0.20419	.	.	.	.	0.3942460569328166	0.39339	0.283348990526	0.30779	.	.	.	0.019855	0.15737	T	-0.268638	0.11909	T	-0.623656	0.10901	T	0.00166754910760778	0.00017	T	0.446155	0.12501	T	0.3324303	0.55668	0.11348576	0.27388	0.3324303	0.55669	0.11348576	0.27388	2.773	0.00026	T	.	.	0.034	0.00010	B	.;.	.;.	0.246319	0.06261	2.715	0.81034162823799205	0.13487	0.00542	0.02495	N	AEFDBHCI	0.071522	0.14241	N	-1.65128738568244	0.01029	0.04464861	-1.46518231632646	0.02636	0.1215648	0.999996036317984	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.663205	0.64265	0	.	.	3.16	1.33	0.20958	1.006000	0.29449	.	.	-1.096000	0.01523	0.050000	0.21411	0.000000	0.08366	0.043000	0.14563	0.0:0.778:0.0:0.222	7.857	0.28649	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.260000	0.227273	0.254076	0.257426	0.150000	0.267241	0.246951	0.265152	0.1429	454.26	68	chr6	31355425	.	T	C	454.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.12;DP=887;ExcessHet=0.3476;FS=14.894;MLEAC=2;MLEAF=0.143;MQ=58.01;MQRankSum=-8.493;QD=1.57;ReadPosRankSum=-0.549;SOR=0.794	GT:AD:DP:GQ:PL	0/0:207,0:207:76:0,76,5780	5	0	2	0
chr6	31356247	31356247	C	0	exonic	HLA-B	.	.	.	.	27	191	3	0	1301	1304	0.00779221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3231.94	56	chr6	31356247	.	C	*	3231.94	.	AC=3;AF=0.214;AN=14;BaseQRankSum=4.43;DP=503;ExcessHet=1.4958;FS=1.758;MLEAC=3;MLEAF=0.214;MQ=51.65;MQRankSum=-1.937;QD=7.5;ReadPosRankSum=-1.174;SOR=0.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:72,0:89:99:.:.:482,699,3717:.	5	1	1	0
chr6	31356720	31356720	T	0	exonic	HLA-B	.	.	.	.	2	80	21	0	123	144	0.116022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1666.05	35	chr6	31356720	.	T	*	1666.05	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.844;DP=304;ExcessHet=1.1394;FS=0.547;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=-1.428;SOR=0.639	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,21:79:99:0|1:31356711_C_CGGAG:667,0,2372:31356711	5	0	2	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	3248.86	79	chr6	31356827	.	T	*	3248.86	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.074;DP=685;ExcessHet=0.4813;FS=2.833;MLEAC=6;MLEAF=0.429;MQ=55.9;MQRankSum=-1.834;QD=5.84;ReadPosRankSum=-1.184;SOR=0.498	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:75,0:133:99:0|1:31356809_C_T:2169,2395,5544:31356809	3	2	2	0
chr6	31411341	31411341	G	A	exonic	MICA	.	nonsynonymous SNV	MICA:NM_000247:exon3:c.G595A:p.V199I,MICA:NM_001177519:exon3:c.G595A:p.V199I,MICA:NM_001289152:exon3:c.G304A:p.V102I,MICA:NM_001289153:exon3:c.G304A:p.V102I,MICA:NM_001289154:exon3:c.G181A:p.V61I	.	409	1063	48	2	0	52	0.0238751	.	.	.	2822873	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.015	.	0.0035	0.00199681	0.0054	0.0003	0.0052	0.0024	0.0016	0.0050	0.0266	0.0091	0.0028848	446	154602	rs41549718	0.0027	0.0027	0.0023	0.0030	0.0199	0.0026	0.0026	0.0170	0.0159	0.0004	0.0030	0.0003	0.0008	0.0016	0.0199	0.0023	0.0031	0.0090	0.0024	0.0024	0.0021	0.0028	0.0062	0.0022	0.0021	0.0045	0.0039	0.0005	0.0088	0.0038	0.0006	0.0006	0.0014	0.0102	0.0032	0.0052	0.0062	0.077	0.34095	T	0.218	0.26066	T	0.002	0.09854	B	0.003	0.08700	B	0.015888	0.01428	N	3.637770	1	0.08975	N	.	.	.	5.62	0.00808	T	-0.56	0.17003	N	0.083	0.06190	-0.9081	0.47085	T	0.001	0.00378	T	10	0.0042325854	0.00085	T	.	.	.	0.015	0.02232	.	.	0.0138822411134	0.00435	0.19776292023929762	0.19693	0.0854538752056	0.09655	0.25497430563	0.04310	T	.	.	.	-0.679157	0.00049	T	-0.7418	0.03815	T	0.00356876069672346	0.00038	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11366	B	.;.	.;.	-0.305598	0.02594	0.320	0.79294907434106843	0.12677	0.00046	0.00367	N	AEFDBI	0.031240	0.03297	N	-1.35461808824982	0.03077	0.1369007	-1.47429991340762	0.02557	0.1178012	0.942790596828477	0.27538	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	1.41	-1.24	0.08948	-0.370000	0.07578	.	.	-1.707000	0.00749	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7752:0.0:0.2248:0.0	4.903	0.13140	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.020197	0.010101	0.005435	0.016129	0.000000	0.000000	0.039634	0.049618	0.07143	1389.45	115	chr6	31411341	.	G	A	1389.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.29;DP=469;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.79;ReadPosRankSum=1.78;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:145,0:145:99:.:.:0,120,1800:.	6	0	1	0
chr6	31412383	31412384	TG	0	exonic;splicing	MICA;MICA	NM_000247:exon6:r.spl	.	.	.	653	335	270	56	208	590	0.363118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	451.11	23	chr6	31412383	.	TG	*	451.11	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.954;DP=260;ExcessHet=1.4958;FS=6.272;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=3.7;ReadPosRankSum=-1.021;SOR=0.341	GT:AD:DP:GQ:PL	0/0:59,0:59:99:0,120,1800	4	0	3	0
chr6	31412384	31412384	G	0	exonic;splicing	MICA;MICA	NM_000247:exon6:c.949-1G>0	.	.	.	0	10	88	27	101	243	0.876543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	4534.51	23	chr6	31412384	.	G	*	4534.51	.	AC=6;AF=0.429;AN=14;DP=257;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.286;MQ=60;QD=27.99;SOR=2.147	GT:AD:DP:GQ:PL	0/0:0,0:46:99:2348,2170,2136	2	1	4	0
chr6	31576785	31576785	C	T	exonic	TNF	.	nonsynonymous SNV	TNF:NM_000594:exon3:c.C251T:p.P84L	.	0	1456	62	4	0	70	0.0234742	.	.	.	710405	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.188	0.0119564785465	0.0019	0.000599042	0.0024	0.0003	0.0023	0.0001	0.0003	0.0028	0.0034	0.0041	0.0021345	330	154602	rs4645843	0.0018	0.0018	0.0017	0.0020	0.0184	0.0018	0.0018	0.0155	0.0145	0.0009	0.0029	0.0106	0	0.0002	0.0184	0.0014	0.0028	0.0045	0.0016	0.0016	0.0016	0.0016	0.0023	0.0015	0.0014	0.0017	0.0016	0.0003	0	0.0023	0.0109	0.0004	0.0002	0.0136	0.0020	0.0033	0.0021	0.145	0.25154	T	0.296	0.20615	T	0.007	0.14184	B	0.003	0.08700	B	0.084445	0.02389	N	1.798360	1	0.08975	N	1.25	0.31749	L	-2.04	0.85703	D	-0.66	0.19085	N	0.056	0.02759	-0.9293	0.44241	T	0.211	0.57067	T	10	0.0046066046	0.00096	T	0.011956	0.30096	T	0.188	0.46444	.	.	0.967945040658	0.96760	0.4098653570155833	0.40902	0.568028422092	0.53036	0.283045470715	0.07921	T	0.100786	0.40693	T	-0.488641	0.00661	T	-0.474409	0.25042	T	0.0327934610997307	0.02437	T	.	.	.	0.11627148	0.27428	0.08679749	0.20134	0.22171228	0.44754	0.104951486	0.25217	-3.833	0.21298	T	.	.	0.082	0.08754	B	.	.	1.914172	0.24313	16.35	0.91227581667590563	0.20484	0.04532	0.10164	N	AEFDBCI	0.061633	0.11797	N	-0.847107772778044	0.12121	0.588936	-0.844081313660175	0.13430	0.696636	0.999991238544582	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.62	0.019	0.13440	-0.178000	0.09775	.	.	0.592000	0.32167	0.000000	0.06391	0.000000	0.08366	0.982000	0.59238	0.535:0.364:0.0:0.101	5.542	0.16328	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.022331	0.000000	0.048913	0.005319	0.000000	0.017241	0.006098	0.007576	0.07143	679.44	91	chr6	31576785	.	C	T	679.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.64;DP=278;ExcessHet=0;FS=0.848;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.47;ReadPosRankSum=1.51;SOR=0.814	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1330	6	0	1	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T,PRRC2A:NM_080686:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1273.39	63	chr6	31625601	.	T	C	1273.39	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-0.123;DP=510;ExcessHet=3.1439;FS=402.682;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=3.58;ReadPosRankSum=1.76;SOR=8.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,22:127:99:0|1:31625601_T_C:311,0,3835:31625601	0	0	4	3
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I,PRRC2A:NM_080686:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1270.39	63	chr6	31625602	.	G	A	1270.39	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-1.302;DP=507;ExcessHet=3.1439;FS=403.706;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=3.56;ReadPosRankSum=1.7;SOR=8.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,22:128:99:0|1:31625601_T_C:308,0,3863:31625601	0	0	4	3
chr6	31637239	31637239	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon30:c.T6248C:p.F2083S,PRRC2A:NM_080686:exon30:c.T6248C:p.F2083S	.	411	1024	80	7	0	94	0.0438842	.	.	.	3221664	PRRC2A-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.107	.	0.0060	0.00838658	0.0105	0.0066	0.0089	0.0014	0.0014	0.0098	0.0149	0.0250	0.0100128	1548	154602	rs35595439	0.0099	0.0099	0.0093	0.0105	0.0980	0.0098	0.0097	0.0913	0.0886	0.0064	0.0100	0.0241	0.0009	0.0009	0.0980	0.0087	0.0136	0.0245	0.0085	0.0085	0.0084	0.0086	0.0176	0.0081	0.0079	0.0146	0.0135	0.0064	0	0.0119	0.0236	0.0023	0.0007	0.0782	0.0087	0.0203	0.0176	0.009	0.57480	D	0.037	0.51737	D	0.99	0.63424	D	0.676	0.53321	P	0.037848	0.24353	N	0.374635	0.994293	0.42229	D	0.805	0.20218	L	4.59	0.01885	T	-0.02	0.07299	N	0.684	0.69037	-0.6465	0.62866	T	0.006	0.01907	T	10	0.0058432817	0.00130	T	.	.	.	0.107	0.30369	.	.	.	.	0.36497003574382164	0.36411	0.278578728581	0.30341	0.594195008278	0.52086	T	0.006049	0.05488	T	-0.447984	0.01161	T	-0.39735	0.33694	T	0.0174964733769842	0.00485	T	0.727827	0.34232	T	0.15795542	0.35562	0.16183853	0.37623	0.15795542	0.35562	0.16183853	0.37622	-1.277	0.01365	T	.	.	0.381	0.58464	A	.;.	.;.	3.781721	0.54376	23.5	0.98768474912641135	0.45924	0.93029	0.57147	D	AEFDBHCI	0.674946	0.64050	D	0.358168924707542	0.59173	4.094471	0.416011924713983	0.62563	4.473676	0.99999993239348	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.63	5.63	0.86108	2.432000	0.44442	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.531000	0.29730	0.0:0.0:0.0:1.0	13.654	0.61799	884	0.28482	.;.	STK19|STK19B|LY6G5B|STK19B|TNXA|STK19B|STK19B|STK19|STK19B|LY6G5B|LY6G5C|STK19B|STK19B|LY6G5B|STK19B|POU5F1|STK19B|MPIG6B|STK19|STK19B|POU5F1|STK19B|LY6G5B|STK19B|LY6G5B|LY6G5B|STK19|LST1|PRRC2A|LY6G5B|STK19|STK19B|STK19|STK19B|STK19B|STK19B|NELFE|LY6G5B|LY6G5C|STK19|STK19B|C4B|CYP21A2|AIF1|LY6G5C|STK19B	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|MSH5	Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis	rs115912333	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.059368	0.116162	0.059783	0.127660	0.200000	0.077586	0.012195	0.030303	0.1429	2019.24	37	chr6	31637239	.	T	C	2019.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.732;DP=376;ExcessHet=0.3476;FS=7.328;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0;SOR=0.38	GT:AD:DP:GQ:PL	0/1:62,76:138:99:1924,0,1687	5	0	2	0
chr6	31710176	31710176	G	A	exonic	LY6G6F;LY6G6F-LY6G6D	.	nonsynonymous SNV	LY6G6F:NM_001003693:exon4:c.G797A:p.G266D,LY6G6F-LY6G6D:NM_001353334:exon4:c.G797A:p.G266D	.	423	1017	75	7	0	89	0.0419218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0060	0.00838658	0.0106	0.0071	0.0094	0.0014	0.0014	0.0098	0.0139	0.0253	0.0101422	1568	154602	rs61740977	0.0100	0.0100	0.0094	0.0106	0.0983	0.0099	0.0098	0.0916	0.0889	0.0066	0.0103	0.0241	0.0009	0.0009	0.0983	0.0087	0.0136	0.0245	0.0086	0.0086	0.0085	0.0087	0.0176	0.0082	0.0080	0.0146	0.0135	0.0066	0	0.0119	0.0236	0.0023	0.0007	0.0748	0.0088	0.0213	0.0176	0.792	0.18061	T	0.67	0.06305	T	0.0	0.02946	B	0.001	0.04355	B	0.940953	0.08354	N	0.971401	1	0.08975	N	1.385	0.34509	L	2.36	0.16089	T	-0.77	0.26200	N	0.134	0.13055	-0.9108	0.46756	T	0.005	0.01725	T	10	0.0036507547	0.00067	T	.	.	.	0.024	0.04979	.	.	.	.	0.17638048354673985	0.17557	0.0973658497453	0.21457	0.23227712512	0.02141	T	0.002959	0.02360	T	-0.691932	0.00041	T	-0.747765	0.03574	T	0.00386979524127015	0.00041	T	0.379462	0.09138	T	0.04546819	0.07448	0.08063304	0.18256	0.04546819	0.07448	0.08063304	0.18256	-4.892	0.35645	T	.	.	0.107	0.19958	B	.;.	.;.	0.522969	0.08917	5.698	0.70296732587708188	0.09250	0.01871	0.05765	N	AEFGBI	0.059164	0.11153	N	-1.55622397157654	0.01499	0.06542969	-1.50119969325627	0.02335	0.1072508	0.999911762167869	0.45857	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.25	-0.08	0.13042	0.206000	0.17174	.	.	-0.179000	0.10443	0.009000	0.18154	0.010000	0.20010	0.146000	0.20164	0.353:0.0:0.5128:0.1342	5.858	0.17980	889	0.27310	.;.	STK19|STK19B|LY6G5B|STK19B|TNXA|STK19B|STK19B|STK19|STK19B|LY6G5B|LY6G5C|STK19B|STK19B|LY6G5B|STK19B|POU5F1|STK19B|MPIG6B|STK19|STK19B|POU5F1|STK19B|LY6G5B|STK19B|LY6G5B|LY6G5B|STK19|LST1|PRRC2A|LY6G5B|STK19|STK19B|STK19|STK19B|STK19B|STK19B|NELFE|LY6G5B|LY6G5C|STK19|STK19B|C4B|CYP21A2|AIF1|LY6G5C|STK19B	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|MSH5	Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis	rs116179487	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.059368	0.126263	0.057065	0.127660	0.200000	0.078947	0.012195	0.030303	0.07143	1247.83	36	chr6	31710176	.	G	A	1247.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.599;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.58;ReadPosRankSum=-1.313;SOR=0.813	GT:AD:DP:GQ:PL	0/1:25,46:71:99:1258,0,738	6	0	1	0
chr6	31954626	31954631	CGATCC	-	exonic	NELFE	.	nonframeshift deletion	NELFE:NM_002904:exon7:c.666_671del:p.D227_R228del	.	422	1016	78	6	0	90	0.0424128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0084	0.00579073	0.0094	0.0007	0.0115	0.0004	0.0022	0.0123	0.0137	0.0087	0.00146	38	26028	rs202172278	0.0067	0.0067	0.0062	0.0071	0.0436	0.0066	0.0065	0.0392	0.0374	0.0010	0.0126	0.0786	0.0004	0.0018	0.0436	0.0047	0.0122	0.0087	0.0072	0.0071	0.0070	0.0074	0.0151	0.0068	0.0067	0.0134	0.0128	0.0010	0	0.0151	0.0773	0.0006	0.0011	0.0451	0.0069	0.0159	0.0043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107961	0.272727	0.058424	0.026596	0.250000	0.051724	0.138037	0.094697	0.07143	2833.79	40	chr6	31954625	.	TCGATCC	T	2833.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.52;DP=374;ExcessHet=0;FS=5.112;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.68;ReadPosRankSum=0.656;SOR=1.148	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	6	0	1	0
chr6	31962033	31962033	T	G	exonic	SKIV2L	.	nonsynonymous SNV	SKIV2L:NM_006929:exon10:c.T1043G:p.L348R	Trichohepatoenteric syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.556	0.0349633723467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.375	0.68372	M	2.53	0.14038	T	-5.45	0.85468	D	0.903	0.90363	-1.1272	0.01921	T	0.065	0.26807	T	10	0.89095634	0.88437	D	0.034963	0.56032	D	0.556	0.81717	0.724	0.85850	0.57330664977	0.56998	0.8879127444121067	0.88760	1.46540379897	0.86441	0.819947719574	0.85020	D	0.253175	0.62366	T	0.242964	0.77942	D	0.111225	0.77655	D	0.997872948646545	0.92644	D	.	.	.	0.74716926	0.80704	0.7899474	0.87643	0.74716926	0.80705	0.7899474	0.87643	-12.449	0.86969	D	.	.	0.800	0.77287	P	.	.	5.152029	0.86294	28.9	0.99786340220633363	0.87219	0.99627	0.98126	D	AEFBI	0.932502	0.92296	D	0.781091360840679	0.84910	8.42144	0.773623478554313	0.87907	9.387054	0.999999999999055	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.73	5.73	0.89730	7.385000	0.79030	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	15.000	0.71121	923	0.18507	DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	692.83	35	chr6	31962033	.	T	G	692.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.923;DP=255;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9;ReadPosRankSum=-0.733;SOR=0.743	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	6	0	1	0
chr6	32008636	32008636	C	T	exonic	TNXB	.	unknown	UNKNOWN	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1424220378	3.167e-05	2.435e-05	4.341e-05	2.055e-05	0.0007	2.168e-05	1.904e-05	0.0005	0.0004	0	0	0	0.0007	0	0	5.146e-06	0	0	1.647e-05	1.361e-05	1.603e-05	1.694e-05	0.0005	2.74e-06	1.02e-06	8.14e-05	3.407e-05	0	0	0	0	0.0005	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	673.36	29	chr6	32008636	.	C	T	673.36	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.152;DP=116;ExcessHet=0;FS=6.021;MLEAC=2;MLEAF=0.167;MQ=35.89;MQRankSum=1.08;QD=28.06;ReadPosRankSum=1.59;SOR=2.33	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1176	5	1	0	1
chr6	32039118	32039118	C	T	exonic	CYP21A2	.	nonsynonymous SNV	CYP21A2:NM_001128590:exon2:c.C227T:p.P76L,CYP21A2:NM_000500:exon3:c.C317T:p.P106L	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Autosomal recessive;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	27197	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	0.166	0.125585124913	.	0.000599042	0.0001	0.0001	0.0001	0	0.0002	9.369e-05	0	0.0002	8.41e-05	13	154602	rs550051210	2.332e-05	2.531e-05	2.045e-05	2.621e-05	0.0002	1.678e-05	1.481e-05	7.325e-05	5.189e-05	0	0.0002	0	0	1.889e-05	0	2.071e-05	3.318e-05	1.17e-05	5.26e-05	5.25e-05	5.145e-05	5.38e-05	0.0004	2.558e-05	1.831e-05	7.315e-05	3.038e-05	4.818e-05	0	0.0002	0	0	0	0	1.472e-05	0	0.0004	0.078	0.42199	T	0.111	0.37173	T	0.012	0.16265	B	0.01	0.14941	B	0.529754	0.11652	N	0.704704	1	0.08975	N	.	.	.	-0.27	0.78967	T	-0.59	0.31375	N	0.145	0.14905	-1.0156	0.25143	T	0.062	0.25887	T	10	0.22942439	0.39870	T	0.125585	0.80712	D	0.166	0.42578	0.831	0.94042	0.903605074516	0.90264	0.348101854316612	0.34724	0.478852830938	0.46947	0.330982327461	0.15082	T	0.015004	0.12667	T	-0.254892	0.13505	T	-0.319197	0.42664	T	0.0128835517685919	0.00221	T	0.761424	0.62800	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.38099	B	.;.;.;.;.;.	.;.;.;.;.;.	0.544463	0.09130	5.913	0.70471528318185861	0.09307	0.01802	0.05623	N	AEFBI	0.150815	0.27518	N	-1.09923804138352	0.06658	0.3071024	-1.0539503352821	0.08625	0.4249804	1.78913668649346E-4	0.05786	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.562822	0.20929	0	.	.	4.63	2.46	0.29032	-0.319000	0.08080	.	.	0.585000	0.30472	0.000000	0.06391	0.000000	0.08366	0.042000	0.14466	0.53:0.307:0.0:0.163	4.060	0.09315	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1103.44	35	chr6	32039118	.	C	T	1103.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.32;DP=268;ExcessHet=0.3476;FS=4.852;MLEAC=2;MLEAF=0.143;MQ=59.96;MQRankSum=0.772;QD=10.41;ReadPosRankSum=-0.881;SOR=0.544	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1620	5	0	2	0
chr6	32040723	32040723	G	A	exonic	CYP21A2	.	nonsynonymous SNV	CYP21A2:NM_001128590:exon8:c.G1084A:p.A362T,CYP21A2:NM_001368144:exon8:c.G769A:p.A257T,CYP21A2:NM_000500:exon9:c.G1174A:p.A392T,CYP21A2:NM_001368143:exon9:c.G769A:p.A257T	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Autosomal recessive;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Autosomal recessive	1	1468	53	0	0	53	0.0177317	.	.	YES	227295	not_provided|Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency|not_specified	MedGen:C3661900|MONDO:MONDO:0008728,MedGen:C2936858,OMIM:201910,Orphanet:90794|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.391	.	.	.	0.0136	0.0022	0.0027	0.0107	0.0075	0.0111	0.0161	0.0370	0.00073	19	26028	rs202242769	0.0073	0.0094	0.0065	0.0081	0.0281	0.0072	0.0072	0.0271	0.0267	0.0014	0.0029	0.0062	0.0052	0.0057	0.0078	0.0062	0.0080	0.0281	0.0056	0.0078	0.0052	0.0061	0.0236	0.0053	0.0052	0.0201	0.0187	0.0019	0	0.0052	0.0064	0.0076	0.0046	0.0102	0.0068	0.0043	0.0236	0.222	0.19710	T	0.009	0.66756	D	0.998	0.73220	D	0.943	0.67921	D	0.000182	0.48115	D	0.000000	0.997099	0.43626	D	.	.	.	-0.29	0.67712	T	-1.76	0.46673	N	0.207	0.41162	-0.4454	0.70552	T	0.291	0.66249	T	10	0.0167332	0.00354	T	.	.	.	0.391	0.70684	.	.	.	.	0.8208711897923143	0.82044	2.92308694442	0.99127	0.399439871311	0.24991	T	.	.	.	-0.260499	0.12843	T	-0.125335	0.61362	T	0.962674856185913	0.66437	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.54997	B	.;.;.;.	.;.;.;.	4.243678	0.64354	24.7	0.99896296742780766	0.96895	0.94147	0.60255	D	AEFGI	0.623891	0.60766	D	0.411912280846738	0.62076	4.417763	0.352239609614193	0.58641	4.036018	0.642680114226977	0.22068	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.75	3.87	0.43823	2.306000	0.43333	.	.	0.673000	0.70640	0.055000	0.21596	1.000000	0.68203	0.805000	0.37950	0.0:0.0:0.8317:0.1682	12.469	0.55115	923	0.18507	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017813	0.007042	0.019231	0.011494	0.000000	0.017241	0.019084	0.012712	0.07143	543.44	37	chr6	32040723	.	G	A	543.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.601;DP=360;ExcessHet=0;FS=10.742;MLEAC=1;MLEAF=0.071;MQ=35.58;MQRankSum=-1.922;QD=7.99;ReadPosRankSum=-0.307;SOR=0.858	GT:AD:DP:GQ:PL	0/0:126,0:126:99:0,120,1800	6	0	1	0
chr6	32081412	32081412	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon10:c.G3998A:p.R1333H,TNXB:NM_019105:exon10:c.G3998A:p.R1333H	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.0121616376251	.	0.000199681	4.357e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs534979105	3.578e-06	8.893e-06	2.822e-06	4.356e-06	2.764e-05	1.05e-06	7.6e-07	7.4e-07	2.1e-07	0	0	3.965e-05	2.764e-05	0	0	2.783e-06	0	0	2.627e-05	2.625e-05	1.285e-05	4.031e-05	0.0002	8.14e-06	5.14e-06	.	.	2.408e-05	0	6.535e-05	0	0	0	0	1.47e-05	0	0.0002	0.632	0.05121	T	0.557	0.09205	T	.	.	.	.	.	.	0.919605	0.08496	N	0.950594	1	0.08975	N	.	.	.	0.4	0.57261	T	-1.18	0.30140	N	0.052	0.02366	-1.0105	0.26760	T	0.015	0.05897	T	10	0.0418213	0.02873	T	0.012162	0.30482	T	0.080	0.23350	0.512	0.61000	0.0934897674506	0.08844	.	.	.	.	0.283893436193	0.08041	T	0.040959	0.25698	T	-0.277098	0.10978	T	-0.635809	0.09978	T	0.043123153827769	0.04260	T	0.39886	0.26349	T	0.04024823	0.05709	0.036240485	0.03030	0.04024823	0.05709	0.036240485	0.03030	-5.397	0.40891	T	0.12497254194179234	0.12352	0.077	0.09143	B	.;.;.;.	.;.;.;.	-0.083658	0.03738	0.774	0.8878796392071886	0.18255	0.02307	0.06626	N	ALL	0.051876	0.09206	N	-1.27569412926132	0.03970	0.1783375	-1.24312113824883	0.05234	0.2488853	0.999999999999998	0.74766	0.700653	0.57754	0	0.610034	0.51514	0	0.717052	0.78885	0	0.562822	0.20929	0	.	.	5.33	-5.34	0.02496	-1.115000	0.03401	.	.	-0.187000	0.09635	0.000000	0.06391	0.000000	0.08366	0.137000	0.19835	0.2145:0.1343:0.107:0.5442	1.760	0.02810	911	0.21964	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	365.63	35	chr6	32081412	.	C	T	365.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.566;DP=221;ExcessHet=0;FS=1.21;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.31;ReadPosRankSum=-1.344;SOR=0.415	GT:AD:DP:GQ:PL	0/1:32,18:50:99:376,0,875	6	0	1	0
chr6	32084509	32084509	T	C	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon8:c.A3349G:p.I1117V,TNXB:NM_019105:exon8:c.A3349G:p.I1117V	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00404409277271	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206170488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488	0.08042	T	0.223	0.25670	T	.	.	.	.	.	.	0.011090	0.29665	N	0.157455	1	0.08975	N	.	.	.	0.6	0.53731	T	-0.55	0.16799	N	0.161	0.16864	-0.9398	0.42648	T	0.022	0.09375	T	10	0.10542533	0.19487	T	0.004044	0.09618	T	0.083	0.24192	0.628	0.76366	0.082315109003	0.07666	.	.	.	.	0.376017332077	0.21691	T	0.049554	0.28342	T	-0.363473	0.03937	T	-0.590752	0.13601	T	0.178008481860161	0.19109	T	0.579042	0.20891	T	0.03490001	0.04007	0.03757916	0.03441	0.03490001	0.04007	0.03757916	0.03440	-2.443	0.05403	T	0.1244784940056053	0.12220	0.096	0.33527	B	.;.;.;.	.;.;.;.	0.203901	0.05883	2.323	0.40594767169986945	0.02875	0.01905	0.05835	N	AEFBI	0.067491	0.13270	N	-0.954541453763761	0.09591	0.4545985	-0.991296341291336	0.09980	0.4997959	0.999587630504933	0.40607	0.549168	0.22868	0	0.627178	0.54094	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	4.23	0.376	0.15424	0.055000	0.14112	.	.	-0.122000	0.13826	0.025000	0.20085	0.000000	0.08366	0.135000	0.19760	0.0:0.3643:0.0:0.6357	7.727	0.27930	911	0.21964	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	94.53	50	chr6	32084509	.	T	C	94.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.552;DP=350;ExcessHet=0;FS=111.78;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.89;ReadPosRankSum=1.76;SOR=6.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1194:.	6	0	1	0
chr6	32089253	32089253	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon5:c.G2485A:p.G829S,TNXB:NM_019105:exon5:c.G2485A:p.G829S	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	0	1487	34	1	0	36	0.0119601	.	.	.	1269701	Ehlers-Danlos_syndrome|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:C3661900|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.324	0.0506389190351	0.0002	0.000399361	0.0014	0.0001	0.0003	0.0002	0.0002	0.0004	0.0036	0.0084	0.0011643	180	154602	rs147172260	0.0008	0.0008	0.0006	0.0011	0.0077	0.0008	0.0008	0.0072	0.0070	0.0002	0.0002	0.0001	0.0002	5.952e-05	0.0052	0.0004	0.0010	0.0077	0.0004	0.0004	0.0003	0.0005	0.0052	0.0003	0.0003	0.0036	0.0031	4.814e-05	0	0.0001	0.0006	0	0	0	0.0004	0.0019	0.0052	0.613	0.05420	T	0.0	0.92824	D	.	.	.	.	.	.	0.000103	0.50451	D	0.000000	0.98473	0.40186	D	.	.	.	0.0	0.62608	T	-4.65	0.79399	D	0.497	0.53006	-0.9127	0.46518	T	0.142	0.46275	T	10	0.008799136	0.00199	T	0.050639	0.64325	D	0.324	0.64624	.	.	0.358461578395	0.35455	.	.	.	.	0.578430056572	0.49865	T	0.29263	0.66535	T	-0.386751	0.02823	T	-0.323752	0.42162	T	0.0958633468784397	0.11895	T	0.715628	0.54791	T	0.43143234	0.62846	0.43191615	0.66794	0.42014903	0.62102	0.42535052	0.66346	-5.497	0.41840	T	0.12625993868028798	0.12714	0.176	0.38498	B	.;.;.;.	.;.;.;.	4.109917	0.61346	24.3	0.99811975144416765	0.89531	0.92780	0.56527	D	AEFDBI	0.608898	0.59830	D	0.25693665237549	0.53982	3.565097	0.329674899078023	0.57291	3.89425	0.999999999999063	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.19	5.19	0.71428	2.800000	0.47595	.	.	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	16.254	0.82326	911	0.21964	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004907	0.000000	0.001359	0.005319	0.000000	0.000000	0.006098	0.015152	0.1429	33.22	34	chr6	32089253	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	6	1	0	0
chr6	32089372	32089372	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon5:c.G2366A:p.G789E,TNXB:NM_019105:exon5:c.G2366A:p.G789E	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	0	1484	38	0	0	38	0.0126414	.	.	.	1165791	not_provided|Cardiovascular_phenotype|Ehlers-Danlos_syndrome	MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.286	0.0145942807907	0.0002	0.000199681	0.0005	0	0.0009	0	0	0.0003	0.0031	0.0017	0.0003428	53	154602	rs367834992	0.0003	0.0003	0.0002	0.0003	0.0061	0.0002	0.0002	0.0045	0.0039	0.0001	0.0003	3.853e-05	0	1.977e-05	0.0061	0.0001	0.0005	0.0014	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0004	0.0003	7.216e-05	0	0.0002	0	0	0	0.0034	0.0003	0.0009	0.0010	0.081	0.33418	T	0.018	0.59732	D	.	.	.	.	.	.	.	.	.	.	0.566953	0.31210	N	.	.	.	0.4	0.57261	T	-2.79	0.59059	D	0.536	0.56403	-1.0489	0.14705	T	0.124	0.42778	T	9	0.028067172	0.00944	T	0.014594	0.34806	T	0.286	0.60456	.	.	0.327946701059	0.32395	.	.	.	.	0.660463988781	0.61476	T	0.09056	0.38610	T	-0.444445	0.01218	T	-0.430205	0.29913	T	0.112639013446134	0.13695	T	0.777822	0.41150	T	0.25686014	0.48728	0.41285133	0.65475	0.26063287	0.49119	0.42123428	0.66062	-10.377	0.76137	D	0.12625993868028798	0.12714	0.114	0.22500	B	.;.;.	.;.;.	4.385162	0.67628	25.1	0.99795651901731497	0.88106	0.46322	0.27734	N	AEFBHI	0.243202	0.36452	N	0.191514843712535	0.50792	3.26588	0.21480015343165	0.50668	3.256501	0.999999963118828	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.3	5.3	0.74745	2.713000	0.46862	.	.	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.909000	0.44452	0.0:1.0:0.0:0.0	16.491	0.84046	911	0.21964	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006550	0.005051	0.005435	0.000000	0.000000	0.008621	0.012270	0.003788	0.08333	357.27	34	chr6	32089372	.	C	T	357.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.77;DP=208;ExcessHet=0;FS=1.441;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-0.461;SOR=0.446	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	5	0	1	1
chr6	32129698	32129698	T	C	exonic	FKBPL	.	nonsynonymous SNV	FKBPL:NM_022110:exon2:c.A83G:p.N28S	.	0	1469	52	1	0	54	0.0180481	.	.	.	3220457	FKBPL-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.102	.	0.0034	0.0105831	0.0063	0.0065	0.0049	0.0301	0.0009	0.0027	0.0055	0.0116	0.0060219	931	154602	rs117160266	0.0043	0.0043	0.0042	0.0045	0.0147	0.0042	0.0042	0.0137	0.0133	0.0050	0.0056	0.0008	0.0147	0.0009	0.0075	0.0035	0.0044	0.0118	0.0045	0.0045	0.0045	0.0045	0.0176	0.0042	0.0041	0.0147	0.0136	0.0063	0.0044	0.0046	0.0003	0.0176	0.0006	0.0102	0.0027	0.0057	0.0108	0.146	0.25055	T	0.536	0.09897	T	0.118	0.26577	B	0.017	0.18140	B	0.881190	0.08754	N	0.940554	1	0.08975	N	1.04	0.26193	L	-1.33	0.79854	T	-0.45	0.14782	N	0.112	0.09914	-0.9037	0.47595	T	0.154	0.48516	T	10	0.003453523	0.00061	T	.	.	.	0.102	0.29158	.	.	0.964397502001	0.96401	0.12206054170897931	0.12133	0.343234087858	0.36255	0.339676707983	0.16389	T	0.001858	0.01270	T	-0.560478	0.00252	T	-0.557592	0.16603	T	0.00333949956713115	0.00035	T	0.476552	0.14308	T	0.03655549	0.04519	0.05028008	0.07861	0.03655549	0.04518	0.05028008	0.07861	-3.286	0.13558	T	.	.	0.098	0.16275	B	.	.	0.649570	0.10179	6.921	0.65107643235153789	0.07679	0.03055	0.07955	N	AEFGBHCI	0.070669	0.14039	N	-0.860103146306415	0.11801	0.5715824	-0.884630442497938	0.12457	0.6409084	0.999979226538229	0.50053	0.542737	0.22433	0	0.516746	0.08562	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	4.23	3.03	0.34070	0.352000	0.19851	.	.	0.665000	0.62972	0.001000	0.13787	0.003000	0.18671	0.472000	0.28386	0.202:0.0:0.0:0.798	6.979	0.23874	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006536	0.000000	0.004076	0.010638	0.000000	0.008621	0.009146	0.003788	0.07143	742.46	60	chr6	32129698	.	T	C	742.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.248;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.68;SOR=0.576	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	6	0	1	0
chr6	32149340	32149340	G	A	exonic	PRRT1	.	nonsynonymous SNV	PRRT1:NM_030651:exon4:c.C803T:p.A268V,PRRT1:NM_001363780:exon6:c.C560T:p.A187V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.972	0.567365613894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.0	0.92824	D	0.997	0.90584	D	0.992	0.88582	D	.	.	.	.	0.999989	0.54805	D	2.54	0.74080	M	-3.35	0.94022	D	-3.87	0.72594	D	0.898	0.90476	0.923	0.96008	D	0.861	0.95383	D	9	0.95940363	0.95333	D	0.567366	0.96074	D	0.972	0.99695	0.823	0.93527	0.917865689854	0.91703	0.9923644020631984	0.99232	.	.	0.796729326248	0.81466	T	0.835489	0.96113	D	0.505881	0.94462	D	0.488887	0.94383	D	0.992065455416527	0.82458	D	0.919208	0.70896	D	0.13374771	0.31098	0.32801107	0.58694	0.13374771	0.31097	0.32801107	0.58694	-7.94	0.60660	D	.	.	0.996	0.95780	P	.;.	.;.	5.923481	0.94075	33	0.9993780266695157	0.99698	0.97115	0.72777	D	AEFDBI	0.943053	0.94840	D	0.830813058453111	0.87991	9.413316	0.794955670732566	0.89439	9.975905	0.999999999998126	0.74766	0.652421	0.48094	0	0.610034	0.51514	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	4.99	4.99	0.65942	8.760000	0.91349	.	.	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	15.785	0.78069	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	107.45	78	chr6	32149340	.	G	A	107.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.303;DP=380;ExcessHet=0;FS=38.36;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.38;ReadPosRankSum=0.419;SOR=4.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,102,1530:.	6	0	1	0
chr6	32192154	32192154	G	C	exonic	GPSM3	.	nonsynonymous SNV	GPSM3:NM_001276501:exon2:c.C139G:p.H47D,GPSM3:NM_022107:exon6:c.C139G:p.H47D	.	410	1060	48	4	0	56	0.0257353	.	.	.	699536	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.023	.	0.0073	0.0061901	0.0066	0.0098	0.0060	0.0012	0.0013	0.0069	0.0091	0.0108	0.0058925	911	154602	rs148125791	0.0067	0.0066	0.0064	0.0069	0.0808	0.0066	0.0065	0.0744	0.0718	0.0087	0.0067	0.0203	0.0008	0.0015	0.0808	0.0060	0.0089	0.0117	0.0070	0.0070	0.0068	0.0072	0.0091	0.0067	0.0065	0.0080	0.0077	0.0088	0	0.0076	0.0179	0.0017	0.0011	0.0680	0.0059	0.0180	0.0091	0.084	0.32929	T	0.831	0.03852	T	0.001	0.07471	B	0.004	0.10090	B	0.356866	0.13730	U	0.619103	0.788139	0.29257	N	0.805	0.20218	L	.	.	.	0.09	0.06138	N	0.304	0.42050	-1.0233	0.22638	T	0.025	0.10553	T	9	0.004505217	0.00093	T	.	.	.	0.023	0.04649	.	.	0.043077524339	0.03247	0.20364634683512572	0.20281	0.62489570063	0.56679	0.689792633057	0.65676	T	0.013766	0.11844	T	-0.486729	0.00677	T	-0.461541	0.26431	T	0.0015793075113103	0.00016	T	0.59504	0.22051	T	0.07228547	0.16068	0.070643276	0.15035	0.07228547	0.16067	0.070643276	0.15034	-2.883	0.08974	T	.	.	0.097	0.15921	B	.;.;.	.;.;.	1.395790	0.18093	13.54	0.54812258607588749	0.05213	0.28990	0.23703	N	AEFDBHCI	0.298807	0.40802	N	-0.977740949507368	0.09080	0.4283037	-0.945021066886185	0.11039	0.5599214	0.999999359385914	0.74766	0.489673	0.17934	0	0.52208	0.09955	0	0.584781	0.30282	0	0.662433	0.64102	0	.	.	2.69	1.81	0.24139	0.980000	0.29111	.	.	-0.191000	0.09375	0.048000	0.21332	0.426000	0.24831	0.823000	0.38780	0.0:0.0:0.7268:0.2732	6.930	0.23615	934	0.15400	.;.;.	.	.	.	.	rs148125791	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.046601	0.092784	0.044837	0.118280	0.100000	0.068966	0.009146	0.015152	0.1429	1214.24	33	chr6	32192154	.	G	C	1214.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0;DP=258;ExcessHet=0.3476;FS=0.797;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=0.221;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,45:86:99:0|1:32192154_G_C:1111,0,1561:32192154	5	0	2	0
chr6	32221088	32221088	C	T	exonic	NOTCH4	.	nonsynonymous SNV	NOTCH4:NM_004557:exon4:c.G689A:p.R230H	.	409	1106	6	1	0	8	0.0036036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00279252570372	0.0001	.	0.0007	0.0001	0.0004	0	0	0.0003	0.0011	0.0038	0.0005563	86	154602	rs138205668	0.0004	0.0004	0.0003	0.0005	0.0035	0.0004	0.0004	0.0032	0.0030	2.987e-05	0.0004	0.0007	0	3.814e-05	0.0028	0.0002	0.0005	0.0035	0.0003	0.0003	0.0003	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	2.406e-05	0	0.0005	0.0006	0	0	0.0034	0.0003	0.0005	0.0021	0.257	0.16738	T	0.923	0.02845	T	0.005	0.12996	B	0.011	0.15521	B	0.142289	0.02895	N	1.783410	0.999995	0.08975	N	0.115	0.08564	N	2.98	0.09356	T	2.48	0.00239	N	0.03	0.00717	-1.0040	0.28755	T	0.004	0.01295	T	10	0.008886576	0.00201	T	0.002793	0.05810	T	0.016	0.02506	.	.	0.173771789658	0.16945	0.509803062364085	0.50902	0.224634892751	0.24998	0.288910537958	0.08764	T	0.014435	0.12290	T	-0.734069	0.00022	T	-0.83058	0.01252	T	0.0112271084685426	0.00165	T	0.19678	0.02180	T	0.018827112	0.00406	0.018693822	0.00063	0.018827112	0.00406	0.018693822	0.00063	-4.671	0.33051	T	.	.	0.065	0.01934	B	.	.	-1.465154	0.00316	0.005	0.67195355447810234	0.08282	0.00581	0.02619	N	AEFDBI	0.051110	0.08997	N	-1.85203874753801	0.00430	0.01849213	-1.9683629001945	0.00356	0.01574692	0.999993728399593	0.74766	0.562547	0.31514	0	0.59043	0.45803	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	4.74	-9.48	0.00498	-1.012000	0.03759	.	.	-0.254000	0.07082	0.001000	0.13787	0.000000	0.08366	0.664000	0.33081	0.077:0.0948:0.1539:0.6743	7.319	0.25691	934	0.15400	EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002179	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.1429	1771.34	48	chr6	32221088	.	C	T	1771.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.961;DP=310;ExcessHet=0.3476;FS=5.042;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.362;SOR=1.004	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1378	5	0	2	0
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3108.52	40	chr6	32521978	.	GT	*	3108.52	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.92;DP=633;ExcessHet=1.383;FS=27.359;MLEAC=2;MLEAF=0.167;MQ=49.49;MQRankSum=1.1;QD=7.91;ReadPosRankSum=-0.427;SOR=1.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,120,1800:.	4	0	2	1
chr6	32521981	32521981	T	0	exonic	HLA-DRB5	.	.	.	.	195	584	309	195	239	938	0.374397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	6933.3	39	chr6	32521981	.	T	*	6933.3	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.95;DP=629;ExcessHet=2.3007;FS=12.737;MLEAC=1;MLEAF=0.083;MQ=49.51;MQRankSum=0.934;QD=15.79;ReadPosRankSum=-0.606;SOR=1.31	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:5,0:50:74:0|1:32521954_G_C:1874,1890,2099:32521954	5	0	1	1
chr6	32522104	32522104	G	0	exonic	HLA-DRB5	.	.	.	.	223	868	2	0	429	431	0.00115075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	4438.32	8	chr6	32522104	.	G	*	4438.32	.	AC=6;AF=0.429;AN=14;BaseQRankSum=5.79;DP=301;ExcessHet=2.5225;FS=31.069;MLEAC=6;MLEAF=0.429;MQ=43.88;MQRankSum=3.24;QD=15.1;ReadPosRankSum=4.12;SOR=0.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:71,0:112:99:0|1:32522099_T_A:1508,1722,4703:32522099	3	2	2	0
chr6	32522156	32522156	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	13412.6	23	chr6	32522156	.	T	*	13412.6	.	AC=6;AF=0.429;AN=14;DP=399;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.429;MQ=46.61;QD=33.7;SOR=1.193	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:164:99:.:.:5627,5627,5627:.	1	0	6	0
chr6	32522157	32522157	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4902.46	23	chr6	32522157	.	C	*	4902.46	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.194;DP=394;ExcessHet=0;FS=5.589;MLEAC=5;MLEAF=0.417;MQ=47.07;MQRankSum=-5.386;QD=21.6;ReadPosRankSum=1.74;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:160,0:160:99:.:.:0,120,1800:.	1	0	5	1
chr6	32522159	32522159	T	0	exonic	HLA-DRB5	.	.	.	.	220	823	360	108	11	587	0.259226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4902.47	23	chr6	32522159	.	T	*	4902.47	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.23;DP=395;ExcessHet=0;FS=6.757;MLEAC=5;MLEAF=0.417;MQ=47.01;MQRankSum=-5.49;QD=21.6;ReadPosRankSum=1.92;SOR=0.366	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:160,0:160:99:.:.:0,120,1800:.	1	0	5	1
chr6	32530183	32530185	CTT	0	exonic	HLA-DRB5	.	.	.	.	1	58	89	55	23	222	0.631746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	8291.32	37	chr6	32530183	.	CTT	*	8291.32	.	AC=1;AF=0.071;AN=14;DP=432;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=42.07;QD=31.45;SOR=1.539	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:165,0:165:99:.:.:0,120,1800:.	6	0	1	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	7710.75	37	chr6	32530184	.	T	*	7710.75	.	AC=10;AF=0.714;AN=14;DP=439;ExcessHet=0;FS=0;MLEAC=10;MLEAF=0.714;MQ=54.98;QD=19.04;SOR=1.278	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:171:99:1|1:32530184_T_G:7603,7603,7603:32530184	2	5	0	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	9221.64	37	chr6	32530185	.	T	*	9221.64	.	AC=9;AF=0.643;AN=14;DP=432;ExcessHet=0;FS=0;MLEAC=9;MLEAF=0.643;MQ=55.12;QD=23.05;SOR=1.31	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:167:99:1|1:32530184_T_G:7443,7443,7443:32530184	2	4	1	0
chr6	32584171	32584171	G	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon3:c.281+1C>0;NM_001243965:exon4:c.282-1C>0	.	.	.	212	511	370	121	308	920	0.374541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	13171.6	92	chr6	32584171	.	G	*	13171.6	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.568;DP=825;ExcessHet=3.1439;FS=6.614;MLEAC=3;MLEAF=0.25;MQ=52.25;MQRankSum=6.14;QD=17.47;ReadPosRankSum=1.59;SOR=0.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:6,0:129:99:1|1:32584151_G_A:5359,5375,5505:32584151	4	1	1	1
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	15396.9	93	chr6	32584177	.	CG	*	15396.9	.	AC=10;AF=0.714;AN=14;DP=815;ExcessHet=0;FS=0;MLEAC=10;MLEAF=0.714;MQ=54.19;QD=20;SOR=1.274	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,125:127:99:1|1:32584151_G_A:5525,312,0:32584151	1	4	2	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	490.48	93	chr6	32584178	.	G	*	490.48	.	AC=13;AF=0.929;AN=14;DP=815;ExcessHet=0;FS=0;MLEAC=13;MLEAF=0.929;MQ=53.91;QD=0.65;SOR=1.263	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,125:127:99:1|1:32584151_G_A:5525,312,0:32584151	0	6	1	0
chr6	32584184	32584184	G	0	exonic	HLA-DRB1	.	.	.	.	80	969	165	64	244	537	0.131331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4430.5	106	chr6	32584184	.	G	*	4430.5	.	AC=2;AF=0.143;AN=14;BaseQRankSum=7.8;DP=865;ExcessHet=0.3696;FS=4.834;MLEAC=2;MLEAF=0.143;MQ=52.55;MQRankSum=-5.586;QD=10.35;ReadPosRankSum=-1.673;SOR=1.117	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:143,0:143:99:.:.:0,120,1800:.	6	1	0	0
chr6	32584185	32584185	C	0	exonic	HLA-DRB1	.	.	.	.	82	1001	166	64	209	503	0.128049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4540.5	110	chr6	32584185	.	C	*	4540.5	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.45;DP=873;ExcessHet=0.3696;FS=3.768;MLEAC=2;MLEAF=0.143;MQ=52.59;MQRankSum=-5.672;QD=10.41;ReadPosRankSum=-1.904;SOR=1.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:143,0:143:99:.:.:0,120,1800:.	6	1	0	0
chr6	32584228	32584228	C	A	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon2:c.G251T:p.R84L	.	1	1508	13	0	0	13	0.00429185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.00257257933248	.	.	6.409e-05	0.0007	9.468e-05	0	0	0	0	0	5.82e-05	9	154602	rs41308498	1.626e-05	6.307e-05	1.771e-05	1.48e-05	0.0005	1.064e-05	9.09e-06	0.0003	0.0003	0.0005	0	0	0	0	0	5.864e-06	0	0	4.42e-05	0.0002	5.719e-05	3.039e-05	0.0001	1.886e-05	1.242e-05	5.483e-05	3.581e-05	0.0001	0	0	0	0	0	0	1.601e-05	0	0	0.0	0.91255	D	0.016	0.60972	D	0.998	0.73220	D	0.99	0.78936	D	0.888303	0.08705	N	0.943989	0.645186	0.32912	D	.	.	.	7.87	0.00331	T	-6.06	0.89833	D	0.27	0.30574	-0.8936	0.48614	T	0.002	0.00556	T	10	0.37746155	0.53940	T	0.002573	0.05178	T	0.124	0.34239	.	.	0.674931257369	0.67217	0.41990939871174177	0.41906	1.09707762147	0.77614	.	.	.	0.01704	0.13973	T	-0.0923297	0.37691	T	-0.255447	0.49277	T	0.785655432159905	0.45407	D	0.10459	0.00778	T	0.8030627	0.84102	0.73397994	0.84278	0.8030627	0.84103	0.73397994	0.84280	-10.267	0.75495	D	.	.	0.193	0.41357	B	.	.	2.861935	0.37813	20.6	0.99720484423722866	0.81984	0.09180	0.14987	N	AEFDGBCI	0.565181	0.57167	D	0.0925256326740981	0.46114	2.856915	-0.184822812067982	0.32094	1.822517	0.9997569279649	0.42595	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.616125	0.45549	0	.	.	3.52	1.69	0.23290	-0.189000	0.09625	.	.	0.288000	0.18739	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.0:0.6271:0.0:0.3729	5.503	0.16129	934	0.15400	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	45.44	303	chr6	32584228	.	C	A	45.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.229;DP=1330;ExcessHet=0;FS=58.824;MLEAC=1;MLEAF=0.071;MQ=54.14;MQRankSum=-9.348;QD=0.12;ReadPosRankSum=2.36;SOR=3.152	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:161,0:161:99:.:.:0,120,1800:.	6	0	1	0
chr6	32584237	32584237	T	A	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon2:c.A242T:p.E81V	.	1	1504	17	0	0	17	0.00561983	.	.	YES	1689253	Pulmonary_artery_atresia	Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908	no_assertion_criteria_provided	Pathogenic	.	.	.	.	.	.	.	.	0.185	0.00446510506758	.	.	7.238e-05	0.0008	9.346e-05	0	0	0	0	0	.	.	.	rs780784592	1.981e-05	0.0002	1.905e-05	2.058e-05	0.0007	1.357e-05	1.163e-05	0.0005	0.0004	0.0007	0	0	0	0	0.0002	3.88e-06	0	1.218e-05	7.383e-06	0.0002	1.434e-05	0	2.831e-05	0	0	.	.	2.831e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.033	0.53072	D	0.999	0.77913	D	0.998	0.88582	D	0.000169	0.48594	D	0.129034	0.998407	0.44873	D	.	.	.	7.94	0.00325	T	-5.79	0.88065	D	0.346	0.38746	-1.0223	0.22965	T	0.002	0.00769	T	10	0.3576585	0.52476	T	0.004465	0.10937	T	0.185	0.45933	.	.	0.777994273302	0.77594	0.6138746119219205	0.61319	1.91140118609	0.92913	.	.	.	0.01964	0.15610	T	-0.0662427	0.41926	T	-0.222871	0.52459	T	0.993583977222443	0.84441	D	0.20398	0.02363	T	0.924581	0.93697	0.7778259	0.86896	0.924581	0.93698	0.7778259	0.86897	-8.579	0.64950	D	.	.	0.236	0.46938	B	.	.	4.220153	0.63828	24.6	0.98970140027629683	0.49520	0.16116	0.19238	N	AEFDGBCI	0.458862	0.50971	N	0.342045025897983	0.58319	4.003624	0.0877288503061334	0.43928	2.684672	0.999997522627703	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.731467	0.93227	0	0.616125	0.45549	0	.	.	3.52	3.52	0.39415	2.349000	0.43710	.	.	0.315000	0.19243	0.027000	0.20232	0.000000	0.08366	0.019000	0.11356	0.0:0.0:0.0:1.0	10.299	0.42825	934	0.15400	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	48.44	303	chr6	32584237	.	T	A	48.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.823;DP=1329;ExcessHet=0;FS=64.074;MLEAC=1;MLEAF=0.071;MQ=54.22;MQRankSum=-9.353;QD=0.13;ReadPosRankSum=3.85;SOR=3.15	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:161,0:161:99:.:.:0,120,1800:.	6	0	1	0
chr6	32584238	32584238	C	G	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon2:c.G241C:p.E81Q	.	1	1504	17	0	0	17	0.00561983	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.00207387365434	.	.	7.225e-05	0.0008	9.327e-05	0	0	0	0	0	.	.	.	rs17883065	2.125e-05	0.0002	2.048e-05	2.202e-05	0.0007	1.491e-05	1.289e-05	0.0005	0.0004	0.0007	2.31e-05	0	0	0	0.0002	2.906e-06	0	1.217e-05	7.337e-06	0.0002	1.425e-05	0	2.802e-05	0	0	.	.	2.802e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.053	0.47336	T	0.999	0.77913	D	0.997	0.86255	D	0.000169	0.48594	D	0.129034	0.990296	0.41128	D	.	.	.	8.0	0.00320	T	-2.41	0.52938	N	0.336	0.37717	-0.9624	0.38723	T	0.002	0.00769	T	10	0.29724097	0.47285	T	0.002074	0.03801	T	0.189	0.46613	.	.	0.595214673487	0.59199	0.43884313891120635	0.43801	1.60149478984	0.88693	.	.	.	0.027425	0.20088	T	-0.0763083	0.40313	T	-0.347388	0.39505	T	0.966860771179199	0.67721	D	0.122788	0.00953	T	0.9087696	0.92180	0.7175066	0.83324	0.9087696	0.92181	0.7175066	0.83325	-7.472	0.57413	T	.	.	0.150	0.33226	B	.	.	3.193117	0.43393	21.7	0.99731010878620463	0.82761	0.07814	0.13809	N	AEFDGBCI	0.410735	0.48149	N	0.303535919932338	0.56330	3.797527	0.058270603401797	0.42473	2.569593	0.999999487461421	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.731467	0.93227	0	0.616125	0.45549	0	.	.	3.52	3.52	0.39415	0.291000	0.18748	.	.	0.288000	0.18739	0.003000	0.16062	0.000000	0.08366	0.018000	0.11154	0.0:1.0:0.0:0.0	12.912	0.57578	934	0.15400	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	48.44	303	chr6	32584238	.	C	G	48.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.692;DP=1330;ExcessHet=0;FS=64.074;MLEAC=1;MLEAF=0.071;MQ=54.24;MQRankSum=-9.353;QD=0.13;ReadPosRankSum=3.95;SOR=3.15	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:161,0:161:99:.:.:0,120,1800:.	6	0	1	0
chr6	32584286	32584286	-	TT	exonic	HLA-DRB1	.	frameshift insertion	HLA-DRB1:NM_002124:exon2:c.192_193insAA:p.E65Kfs*16	.	1	1516	5	0	0	5	0.00164636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.532e-06	6.922e-06	3.074e-06	0	6.312e-05	2.6e-07	1e-07	1.045e-05	3.91e-06	6.312e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	208.4	402	chr6	32584286	.	C	CTT	208.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=5.41;DP=2383;ExcessHet=0;FS=97.659;MLEAC=1;MLEAF=0.071;MQ=54.17;MQRankSum=-8.329;QD=0.77;ReadPosRankSum=-2.282;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:503,0:503:99:.:.:0,120,1800:.	6	0	1	0
chr6	32584290	32584291	CT	-	exonic	HLA-DRB1	.	frameshift deletion	HLA-DRB1:NM_002124:exon2:c.188_189del:p.Q63Rfs*23	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.539e-06	5.54e-06	3.09e-06	0	6.317e-05	2.6e-07	1e-07	1.046e-05	3.91e-06	6.317e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	178.4	402	chr6	32584289	.	CCT	C	178.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.34;DP=2378;ExcessHet=0;FS=94.207;MLEAC=1;MLEAF=0.071;MQ=54.14;MQRankSum=-8.12;QD=0.67;ReadPosRankSum=-2.873;SOR=6.272	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:503,0:503:99:.:.:0,120,1800:.	6	0	1	0
chr6	32584290	32584290	C	0	exonic	HLA-DRB1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	31671.0	416	chr6	32584290	.	C	*	31671.0	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.16;DP=2471;ExcessHet=14.2834;FS=1.152;MLEAC=1;MLEAF=0.071;MQ=54.5;MQRankSum=1.23;QD=12.97;ReadPosRankSum=0.786;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:124,0:501:99:.:.:15305,15705,20986:.	6	0	1	0
chr6	32584310	32584310	-	A	exonic	HLA-DRB1	.	stopgain	HLA-DRB1:NM_002124:exon2:c.168_169insT:p.D57*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.506e-07	2.816e-06	0	1.685e-06	3.312e-05	0	0	.	.	3.312e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	6236.38	406	chr6	32584310	.	C	CA	6236.38	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.94;DP=2003;ExcessHet=1.1394;FS=28.142;MLEAC=1;MLEAF=0.071;MQ=54.22;MQRankSum=-4.302;QD=10.38;ReadPosRankSum=-0.25;SOR=1.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:224,0:426:99:.:.:6044,6718,16124:.	6	0	1	0
chr6	32584318	32584318	C	0	exonic	HLA-DRB1	.	.	.	.	12	1221	160	8	121	297	0.0672269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	125.91	319	chr6	32584318	.	C	*	125.91	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.92;DP=2065;ExcessHet=0.3476;FS=11.107;MLEAC=1;MLEAF=0.071;MQ=53.72;MQRankSum=0.921;QD=0.31;ReadPosRankSum=3.71;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:145,151:394:99:.:.:5904,0,5634:.	6	0	1	0
chr6	32584353	32584353	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-1G>0	.	.	.	171	315	497	500	39	1536	0.703808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	78167.9	323	chr6	32584353	.	C	*	78167.9	.	AC=2;AF=0.143;AN=14;DP=1927;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=53.08;QD=30.56;SOR=1.399	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,60:177:99:0|1:32584353_C_A:7337,4912,5446:32584353	5	0	2	0
chr6	32584354	32584354	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-2G>0	.	.	.	175	338	454	378	177	1387	0.641569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	74248.9	319	chr6	32584354	.	C	*	74248.9	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.398;DP=1895;ExcessHet=0;FS=5.338;MLEAC=2;MLEAF=0.143;MQ=52.97;MQRankSum=6.13;QD=30.75;ReadPosRankSum=-3.634;SOR=1.324	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,51:164:99:.:.:3600,1668,3908:.	5	0	2	0
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	24561.1	243	chr6	32584370	.	G	*	24561.1	.	AC=6;AF=0.429;AN=14;BaseQRankSum=5.49;DP=1443;ExcessHet=0.3476;FS=0;MLEAC=6;MLEAF=0.429;MQ=51.3;MQRankSum=-1.108;QD=17.24;ReadPosRankSum=5.06;SOR=1.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:28,0:129:99:0|1:32584353_C_A:4157,4241,5417:32584353	1	0	6	0
chr6	32589684	32589684	A	G	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon1:c.T59C:p.M20T	.	1	1193	328	0	0	328	0.120855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	.	0.0009	0.0026	0	0	0.0002	0.0012	0.0011	0.0004	0.0042646	111	26028	rs35053532	0.0006	0.0073	0.0006	0.0007	0.0022	0.0006	0.0006	0.0017	0.0016	0.0005	0.0009	0.0017	0.0008	0.0006	0.0022	0.0005	0.0008	0.0020	0.0010	0.0084	0.0014	0.0007	0.0018	0.0009	0.0008	0.0012	0.0011	0.0005	0.0033	0.0007	0.0032	0.0018	0	0	0.0015	0	0.0004	0.015	0.52492	D	0.163	0.31125	T	0.049	0.22227	B	0.034	0.22546	B	0.130685	0.02806	N	1.753860	0.999999	0.08975	N	.	.	.	8.43	0.00232	T	-2.54	0.55025	D	0.351	0.39254	-0.9412	0.42426	T	0.000	0.00075	T	10	0.023282856	0.00605	T	.	.	.	0.077	0.22490	.	.	0.370240404367	0.36630	0.4121927582371236	0.41135	0.84044661693	0.68037	.	.	.	0.009999	0.09062	T	-0.155507	0.27453	T	-0.461152	0.26474	T	0.0196228360865429	0.00665	T	0.529047	0.17505	T	0.35031834	0.57092	0.4314815	0.66765	0.35031834	0.57092	0.4314815	0.66765	-2.481	0.05653	T	.	.	0.110	0.21353	B	.	.	2.014600	0.25599	16.82	0.8036740669395388	0.13170	0.04417	0.10008	N	ALL	0.194190	0.32128	N	-0.683751231317595	0.16484	0.8402923	-0.710060751366673	0.16710	0.8852588	0.99999996150014	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.584781	0.30282	0	0.687789	0.68303	1	.	.	4.4	2.05	0.25860	1.398000	0.34163	.	.	0.750000	0.87069	0.802000	0.29747	0.000000	0.08366	0.027000	0.12703	0.7604:0.0:0.2396:0.0	5.311	0.15141	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016507	0.035354	0.010870	0.034188	0.050000	0.000000	0.021341	0.007576	0.1429	4499.24	135	chr6	32589684	.	A	G	4499.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.269;DP=1110;ExcessHet=0.3476;FS=1.195;MLEAC=2;MLEAF=0.143;MQ=47.67;MQRankSum=1.39;QD=10.49;ReadPosRankSum=0.98;SOR=0.791	GT:AD:DP:GQ:PL	0/1:292,126:418:99:4412,0,11882	5	0	2	0
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2613.32	74	chr6	32641444	.	G	*	2613.32	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.712;DP=808;ExcessHet=2.5225;FS=20.088;MLEAC=7;MLEAF=0.5;MQ=50.87;MQRankSum=-1.068;QD=3.23;ReadPosRankSum=-0.792;SOR=1.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:57:99:1|1:32641430_C_T:2565,2565,2565:32641430	2	2	3	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2700.32	74	chr6	32641445	.	A	*	2700.32	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.18;DP=810;ExcessHet=2.5225;FS=19.739;MLEAC=7;MLEAF=0.5;MQ=51.17;MQRankSum=-0.887;QD=3.33;ReadPosRankSum=-0.792;SOR=1.247	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:58:99:1|1:32641430_C_T:2610,2610,2610:32641430	2	2	3	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	907.51	68	chr6	32641462	.	G	*	907.51	.	AC=9;AF=0.643;AN=14;DP=833;ExcessHet=2.5225;FS=10.673;MLEAC=9;MLEAF=0.643;MQ=53.04;QD=1.1;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,31:55:99:0|1:32641462_G_*:2309,1008,914:32641462	0	2	5	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	910.51	68	chr6	32641464	.	T	*	910.51	.	AC=9;AF=0.643;AN=14;DP=836;ExcessHet=2.5225;FS=9.491;MLEAC=9;MLEAF=0.643;MQ=53.75;QD=1.11;SOR=0.927	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,30:54:99:0|1:32641462_G_*:2447,1020,917:32641462	0	2	5	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5139.46	58	chr6	32641501	.	G	*	5139.46	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.15;DP=864;ExcessHet=2.5225;FS=1.787;MLEAC=7;MLEAF=0.5;MQ=57.9;MQRankSum=0;QD=5.95;ReadPosRankSum=-0.19;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:107:99:1|1:32641430_C_T:4815,4815,4815:32641430	2	2	3	0
chr6	32641522	32641522	A	G	exonic	HLA-DQA1	.	nonsynonymous SNV	HLA-DQA1:NM_002122:exon2:c.A295G:p.M99V	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	.	.	0.0057	0.0025	0.0088	0.0053	0.0084	0.0066	0.0016	0.0024	0.0058783	153	26028	rs1064944	4.039e-05	0.0068	3.94e-05	4.138e-05	0.0002	2.98e-05	2.601e-05	9.923e-05	6.79e-05	0	5.25e-05	0.0002	0.0002	0	0	3.331e-05	0.0001	0	0	0.0073	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.116	0.29688	T	0.158	0.31629	T	.	.	.	.	.	.	0.417235	0.04626	U	1.376450	1	0.08975	N	.	.	.	5.87	0.00635	T	-1.45	0.35792	N	0.057	0.05670	-0.9197	0.45594	T	0.000	0.00152	T	10	0.004614234	0.00096	T	.	.	.	0.044	0.11924	.	.	.	.	0.34569313513656585	0.34483	0.852731849783	0.68618	0.289853215218	0.08902	T	0.017806	0.14461	T	-0.715283	0.00030	T	-0.656411	0.08510	T	0.0132995924044953	0.00238	T	0.206079	0.02437	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25753	B	.;.;.;.	.;.;.;.	-4.065667	0.00001	0.001	0.34440312666605133	0.02107	0.00388	0.01954	N	AEFGBHCI	0.200916	0.32762	N	-2.37503005817049	0.00031	0.001328335	-2.55582823607075	0.00017	0.0007554368	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.97	-7.95	0.01015	-12.340000	0.00003	.	.	-5.452000	0.00010	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3982:0.2011:0.1237:0.2771	0.888	0.01170	940	0.13648	MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal	.	.	.	.	rs1064944	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	4857.75	64	chr6	32641522	.	A	G	4857.75	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=915;ExcessHet=2.5225;FS=6.106;MLEAC=1;MLEAF=0.071;MQ=58.2;MQRankSum=0;QD=5.32;ReadPosRankSum=1.36;SOR=1.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,63:124:99:.:.:5248,2126,1817:.	6	0	1	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4857.75	64	chr6	32641522	.	A	*	4857.75	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0;DP=915;ExcessHet=2.5225;FS=6.106;MLEAC=7;MLEAF=0.5;MQ=58.2;MQRankSum=0;QD=5.32;ReadPosRankSum=1.36;SOR=1.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:124:99:.:.:5248,4747,4538:.	2	2	3	0
chr6	32664869	32664869	G	T	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C308A:p.T103N,HLA-DQB1:NM_002123:exon2:c.C308A:p.T103N	.	47	1413	29	33	0	95	0.0325231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.00320934890791	.	.	0.0036	0.0038	0.0016	0.0012	0.0020	0.0031	0.0049	0.0085	0.0130335	2015	154602	rs9274387	1.448e-05	0.0002	1.473e-05	1.424e-05	0.0003	8.4e-06	6.57e-06	3.1e-06	2.04e-06	0	0	0	0	0.0001	0.0003	8.631e-06	2.352e-05	0	8.846e-06	0.0004	0	1.827e-05	1.872e-05	0	0	.	.	0	0	0	0	0	0	0	1.872e-05	0	0	0.01	0.56456	D	0.224	0.25591	T	0.118	0.26577	B	0.253	0.39112	B	0.634068	0.10659	U	0.776971	1	0.08975	N	.	.	.	8.06	0.00308	T	-0.92	0.24676	N	0.064	0.03613	-0.9485	0.41228	T	0.001	0.00318	T	10	0.009080023	0.00205	T	0.003209	0.07057	T	0.158	0.41098	.	.	.	.	0.2784650380839335	0.27759	0.661283572157	0.58917	0.304967522621	0.11146	T	0.009157	0.08356	T	-0.18148	0.23516	T	-0.49846	0.22508	T	0.028743839315783	0.01798	T	0.240776	0.03459	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.39237	B	.;.;.;.	.;.;.;.	-1.656487	0.00214	0.003	0.96346439753286539	0.29499	0.00415	0.02058	N	ALL	0.101341	0.20356	N	-1.25150793438975	0.04280	0.1928499	-1.46237027539343	0.02660	0.1227418	0.9999999444672	0.74766	0.446893	0.09132	0	0.52208	0.09955	0	0.503968	0.08637	0	0.530356	0.10902	0	.	.	3.87	-2.53	0.05959	-9.210000	0.00017	.	.	-0.509000	0.05002	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1676:0.3191:0.5133	6.882	0.23358	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	397.68	53	chr6	32664869	.	G	T	397.68	.	AC=3;AF=0.214;AN=14;BaseQRankSum=2.28;DP=691;ExcessHet=0;FS=1.379;MLEAC=3;MLEAF=0.214;MQ=51.82;MQRankSum=-3.234;QD=8.28;ReadPosRankSum=0.477;SOR=0.99	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,4:40:60:0|1:32664851_G_C:60,0,1500:32664851	5	1	1	0
chr6	32664917	32664917	C	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.G260T:p.R87L,HLA-DQB1:NM_002123:exon2:c.G260T:p.R87L	.	41	553	66	57	805	985	0.139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	.	.	0.0178	0.0094	0.0074	0.0044	0.0110	0.0123	0.0177	0.0613	0.0308211	4765	154602	rs1130380	0.0002	0.0028	0.0002	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	6.946e-05	7.264e-05	8.514e-05	0	0.0002	0.0004	0.0001	0.0001	0.0006	6.32e-05	0.0064	1.542e-05	0.0001	6.948e-05	3.113e-05	2.259e-05	2.321e-05	1.392e-05	2.998e-05	0	0	0.0010	0	0	0	6.948e-05	0	0	0.065	0.44029	T	0.021	0.58613	D	0.001	0.09854	B	0.004	0.10090	B	0.941407	0.08351	U	0.961307	0.979372	0.39555	D	.	.	.	7.87	0.00331	T	-5.88	0.88699	D	0.129	0.12341	-1.0646	0.10642	T	0.000	0.00039	T	10	0.003316313	0.00057	T	.	.	.	0.088	0.25558	.	.	.	.	0.3182965296469853	0.31742	0.691323969143	0.60588	0.299167692661	0.10277	T	0.017577	0.14314	T	-0.655468	0.00067	T	-0.649226	0.09008	T	0.02403772754452	0.01149	T	0.162684	0.01473	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23219	B	.;.;.;.	.;.;.;.	1.177431	0.15679	12.02	0.80016420578156267	0.13006	0.03612	0.08845	N	ALL	0.215815	0.34113	N	-2.29836096021619	0.00046	0.001970145	-2.22797978748312	0.00097	0.004250061	0.999999969366938	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.193	0.14419	0.297000	0.18856	.	.	-4.622000	0.00024	0.032000	0.20554	0.000000	0.08366	0.000000	0.00833	0.0:0.4718:0.2098:0.3184	5.435	0.15776	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	20647.3	120	chr6	32664917	.	C	A	20647.3	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.131;DP=1018;ExcessHet=4.7409;FS=1.742;MLEAC=5;MLEAF=0.357;MQ=59.02;MQRankSum=0;QD=20.5;ReadPosRankSum=0.072;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,24:125:99:0|1:32664911_T_G:704,0,4109:32664911	3	1	3	0
chr6	32664926	32664926	G	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C251T:p.P84L,HLA-DQB1:NM_002123:exon2:c.C251T:p.P84L	.	20	1284	160	58	0	276	0.0970464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	.	.	0.0182	0.0107	0.0076	0.0048	0.0114	0.0123	0.0151	0.0628	0.0296956	4591	154602	rs9274395	0.0003	0.0032	0.0003	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	7.464e-05	0.0002	0.0001	0	0.0003	0.0006	0.0003	0.0003	0.0011	0.0002	0.0078	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	7.089e-05	0.0002	0	0	0.0014	0	0	0.0046	0.0002	0	0.0006	0.069	0.40068	T	0.043	0.49942	D	0.052	0.22494	B	0.029	0.21540	B	0.099669	0.19922	U	0.369227	0.722216	0.33630	D	.	.	.	8.26	0.00269	T	-3.84	0.75058	D	0.15	0.15328	-0.9881	0.33077	T	0.001	0.00287	T	10	0.006448716	0.00146	T	.	.	.	0.119	0.33137	.	.	.	.	0.18514000446126433	0.18431	0.566269477264	0.52927	0.319175481796	0.13295	T	0.014743	0.12495	T	-0.159806	0.26790	T	-0.467326	0.25804	T	0.051758160492758	0.05806	T	0.0806919	0.00607	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.25656	B	.;.;.;.	.;.;.;.	1.397222	0.18105	13.55	0.99226900122916373	0.56089	0.07262	0.13285	N	ALL	0.271360	0.38723	N	-0.744876639371783	0.14773	0.7387562	-0.902920104954735	0.12025	0.6161842	0.999999967135338	0.74766	0.652421	0.48094	0	0.504199	0.08210	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.064	0.13666	-0.204000	0.09426	.	.	-0.499000	0.05024	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.5119:0.4881	10.579	0.44436	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	rs9274395	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	4522.09	121	chr6	32664926	.	G	A	4522.09	.	AC=5;AF=0.357;AN=14;BaseQRankSum=2.97;DP=1022;ExcessHet=0.4813;FS=10.479;MLEAC=5;MLEAF=0.357;MQ=56.49;MQRankSum=-3.201;QD=13.42;ReadPosRankSum=-2.385;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,37:143:99:0|1:32664911_T_G:1235,0,4201:32664911	3	1	3	0
chr6	32666525	32666525	A	0	exonic	HLA-DQB1	.	.	.	.	0	4	73	139	10	361	0.977716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	16697.4	51	chr6	32666525	.	A	*	16697.4	.	AC=1;AF=0.083;AN=12;DP=445;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;QD=32.17;SOR=0.943	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,54:95:99:.:.:4029,1625,1440:.	5	0	1	1
chr6	32745916	32745916	T	G	exonic	HLA-DQA2	.	nonsynonymous SNV	HLA-DQA2:NM_020056:exon3:c.T457G:p.S153A	.	193	1323	6	0	0	6	0.00226244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.0155	0.0088	0.0041	0.0113	0.0092	0.0121	0.0221	0.0454	.	.	.	rs146057838	6.128e-05	0.0019	5.754e-05	6.507e-05	0.0002	5.061e-05	4.702e-05	0.0001	0.0001	0	0	0.0001	2.526e-05	5.75e-05	0	5.697e-05	1.664e-05	0.0002	1.313e-05	7.218e-05	2.569e-05	0	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	9.418e-05	0	1.47e-05	0	0	0.345	0.12511	T	0.253	0.23501	T	0.0	0.02946	B	0.003	0.08700	B	0.182904	0.03195	N	1.691850	1	0.08975	N	0.64	0.16041	N	4.15	0.02815	T	-0.22	0.10480	N	0.038	0.01203	-0.9247	0.44901	T	0.002	0.00769	T	10	0.004250288	0.00085	T	.	.	.	0.027	0.05988	.	.	.	.	0.0890194783846125	0.08834	0.338264766001	0.35804	0.288285970688	0.08673	T	0.001291	0.00775	T	-0.294874	0.09152	T	-0.661342	0.08176	T	0.00664225175806282	0.00074	T	.	.	.	0.12412074	0.29130	0.09937215	0.23725	0.12412074	0.29130	0.09937215	0.23724	-6.85	0.52930	T	.	.	0.067	0.02488	B	.	.	-0.163931	0.03278	0.562	0.79980063418902569	0.12989	0.01967	0.05961	N	ALL	0.044876	0.07272	N	-1.35712324688748	0.03052	0.1357202	-1.51134464119932	0.02256	0.1034977	0.995559138312263	0.34191	0.675202	0.55065	0	0.67197	0.64623	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.06	-6.13	0.01937	-1.758000	0.01908	.	.	0.344000	0.19825	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2583:0.4151:0.1313:0.1954	2.063	0.03378	940	0.13648	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.033152	0.010101	0.027174	0.041667	0.000000	0.034483	0.033537	0.060606	0.07143	31.44	157	chr6	32745916	.	T	G	31.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.226;DP=1315;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=55.02;MQRankSum=-2.66;QD=1.65;ReadPosRankSum=1.15;SOR=0.399	GT:AD:DP:GQ:PL	0/0:311,0:311:99:0,120,1800	6	0	1	0
chr6	32978252	32978252	G	A	exonic	BRD2	.	nonsynonymous SNV	BRD2:NM_001199455:exon9:c.G1705A:p.A569T,BRD2:NM_001199456:exon9:c.G1564A:p.A522T,BRD2:NM_001113182:exon10:c.G1705A:p.A569T,BRD2:NM_005104:exon10:c.G1705A:p.A569T,BRD2:NM_001291986:exon11:c.G1345A:p.A449T	.	432	1059	30	1	0	32	0.0148837	.	.	.	721980	not_provided|BRD2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.031	.	0.0069	0.00638978	0.0050	0.0123	0.0033	0.0006	0.0011	0.0049	0.0046	0.0068	0.0047671	737	154602	rs34530779	0.0042	0.0042	0.0041	0.0043	0.0366	0.0041	0.0041	0.0326	0.0310	0.0133	0.0026	0.0168	0.0004	0.0014	0.0366	0.0035	0.0060	0.0063	0.0059	0.0059	0.0061	0.0056	0.0120	0.0055	0.0054	0.0111	0.0107	0.0120	0	0.0031	0.0159	0.0006	0.0008	0.0476	0.0033	0.0100	0.0046	0.562	0.13175	T	0.451	0.16134	T	0.001	0.07471	B	0.003	0.08700	B	0.716158	0.09973	N	0.849248	1	0.08975	N	1.245	0.31408	L	1.84	0.24656	T	-0.16	0.13226	N	0.091	0.10340	-0.9331	0.43680	T	0.012	0.04653	T	10	0.0040821135	0.00080	T	.	.	.	0.031	0.07369	.	.	0.500921690253	0.49727	0.14532404662508713	0.14455	.	.	0.452691048384	0.32311	T	0.165661	0.51160	T	-0.540883	0.00331	T	-0.539329	0.18363	T	0.0051484503664083	0.00056	T	.	.	.	0.027420428	0.01931	0.049333945	0.07518	0.027420428	0.01930	0.049333945	0.07518	-5.591	0.42710	T	.	.	0.063	0.01470	B	.;.;.;.	.;.;.;.	1.150463	0.15388	11.81	0.99329605284450684	0.59738	0.44858	0.27411	N	AEFDBHCI	0.399904	0.47500	N	-0.877777422592138	0.11373	0.5484714	-0.843724644830554	0.13438	0.6971273	0.999999047228218	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.24	0.395	0.15527	1.219000	0.32083	.	.	-0.117000	0.14459	0.003000	0.16062	0.000000	0.08366	0.288000	0.24212	0.4739:0.1853:0.3408:0.0	3.989	0.09020	900	0.24599	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.023965	0.005051	0.028533	0.058511	0.050000	0.052632	0.006098	0.015152	0.07143	60.44	38	chr6	32978252	.	G	A	60.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.38;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=-1.383;SOR=2.303	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	6	0	1	0
chr6	33007137	33007137	C	A	exonic	HLA-DOA	.	nonsynonymous SNV	HLA-DOA:NM_002119:exon4:c.G692T:p.G231V	.	408	1104	10	0	0	10	0.00450857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.015832190313	0.0013	0.000199681	0.0018	0.0001	0.0015	0	0.0011	0.0026	0.0067	0.0008	0.0015912	246	154602	rs141887419	0.0013	0.0013	0.0013	0.0014	0.0040	0.0013	0.0013	0.0027	0.0023	0.0001	0.0015	0.0255	7.557e-05	0.0011	0.0040	0.0008	0.0026	0.0011	0.0014	0.0014	0.0014	0.0014	0.0020	0.0012	0.0012	0.0014	0.0012	2.405e-05	0	0.0020	0.0259	0	0.0016	0.0034	0.0010	0.0024	0.0002	0.0	0.91255	D	0.001	0.83351	D	0.986	0.61523	D	0.754	0.56161	P	0.000001	0.84330	D	0.055623	1	0.81001	D	.	.	.	4.34	0.02341	T	-5.85	0.88495	D	0.639	0.65159	-1.1539	0.00913	T	0.023	0.09968	T	10	0.008959204	0.00203	T	0.015832	0.36777	T	0.207	0.49555	.	.	0.245101548738	0.24120	0.466580494877547	0.46577	0.867106616012	0.69253	0.340403318405	0.16499	T	0.235749	0.60308	T	-0.294374	0.09201	T	-0.220252	0.52714	T	0.077117112410018	0.09614	T	.	.	.	0.43390742	0.63007	0.31397367	0.57392	0.43390742	0.63008	0.31397367	0.57391	-10.808	0.78594	D	.	.	0.163	0.35931	B	.	.	3.530082	0.49522	22.8	0.99701618943290538	0.80660	0.96381	0.68860	D	AEFDBI	0.501753	0.53446	D	0.686312535578109	0.78735	6.931957	0.625188012090597	0.76776	6.553385	0.999998229885003	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	4.81	4.81	0.61401	1.983000	0.40270	.	.	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.757000	0.36037	0.0:1.0:0.0:0.0	15.777	0.78003	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006536	0.005051	0.001359	0.000000	0.000000	0.000000	0.015244	0.015152	0.08333	390.27	43	chr6	33007137	.	C	A	390.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.09;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=0.572;SOR=0.656	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1201	5	0	1	1
chr6	33007509	33007509	A	G	exonic	HLA-DOA	.	nonsynonymous SNV	HLA-DOA:NM_002119:exon3:c.T415C:p.F139L	.	427	1066	29	0	0	29	0.0134197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	.	0.0009	0.00519169	0.0045	0.0002	0.0055	0.0015	0.0003	0.0028	0.0115	0.0155	0.0039197	606	154602	rs34987694	0.0028	0.0028	0.0022	0.0033	0.0163	0.0027	0.0026	0.0156	0.0153	0.0002	0.0052	0.0194	0.0007	0.0002	0.0104	0.0013	0.0050	0.0163	0.0024	0.0024	0.0022	0.0027	0.0141	0.0022	0.0022	0.0114	0.0104	0.0003	0	0.0052	0.0181	0.0004	9.418e-05	0.0102	0.0020	0.0033	0.0141	0.003	0.68238	D	0.01	0.65728	D	0.969	0.56768	D	0.721	0.54900	P	0.000039	0.55875	D	0.126169	0.999637	0.47961	D	3.17	0.88688	M	3.96	0.03354	T	-3.73	0.70920	D	0.557	0.58202	0.211	0.86088	D	0.499	0.81067	T	10	0.012116015	0.00262	T	.	.	.	0.239	0.54358	0.728	0.86198	0.21279746466	0.20884	0.5410917064688581	0.54034	0.972564744094	0.73426	0.453698754311	0.32450	T	0.209443	0.56966	T	-0.307338	0.07984	T	-0.201922	0.54464	T	0.0857759117301687	0.10708	T	.	.	.	0.5378518	0.69276	0.30170494	0.56203	0.5378518	0.69277	0.30170494	0.56202	-11.984	0.84773	D	.	.	0.965	0.88734	P	.	.	4.808168	0.78192	26.8	0.99867403067161387	0.94547	0.84875	0.43968	D	AEFDBHCI	0.812788	0.73543	D	0.505219025233158	0.67399	5.076327	0.47405946779811	0.66277	4.931049	0.999998788976186	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.64	4.64	0.57399	5.771000	0.68535	.	.	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	12.366	0.54558	895	0.25842	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010349	0.000000	0.005435	0.005319	0.000000	0.000000	0.015244	0.034091	0.07143	1426.44	43	chr6	33007509	.	A	G	1426.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.365;DP=551;ExcessHet=0;FS=0.734;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=1.61;SOR=0.578	GT:AD:DP:GQ:PL	0/0:102,0:102:99:0,120,1800	6	0	1	0
chr6	33196472	33196472	C	T	exonic	RXRB	.	nonsynonymous SNV	RXRB:NM_001291989:exon4:c.G385A:p.V129I,RXRB:NM_001270401:exon5:c.G955A:p.V319I,RXRB:NM_021976:exon5:c.G955A:p.V319I	.	414	1097	11	0	0	11	0.00498866	.	.	.	2693339	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.107	0.0136837423552	.	0.000199681	0.0002	0	0.0003	0	0	0.0003	0	0.0003	0.0001682	26	154602	rs201059237	0.0001	0.0001	0.0001	0.0001	0.0031	0.0001	0.0001	0.0020	0.0017	0	0.0006	0	2.519e-05	0	0.0031	0.0001	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0007	0.0005	9.623e-05	0	0.0010	0	0	9.411e-05	0	0.0001	0	0.0002	0.384	0.11050	T	0.547	0.09522	T	0.059	0.23051	B	0.004	0.10090	B	0.407263	0.13044	N	0.738124	0.743221	0.33846	D	0.275	0.09989	N	-0.45	0.69896	T	-0.34	0.12661	N	0.087	0.06454	-0.6483	0.62788	T	0.356	0.71881	T	10	0.023199797	0.00600	T	0.013684	0.33266	T	0.107	0.30369	.	.	0.375737878683	0.37188	0.06156134391304991	0.06096	0.829311628033	0.67554	0.359082013369	0.19251	T	0.31551	0.68711	T	-0.423917	0.01615	T	-0.49267	0.23112	T	0.0132337005695554	0.00235	T	.	.	.	0.026787026	0.01782	0.0640791	0.12789	0.026787026	0.01782	0.0640791	0.12788	-5.546	0.42434	T	.	.	0.075	0.05668	B	.;.	.;.	2.204808	0.28123	17.69	0.98556971412200456	0.42922	0.95998	0.67072	D	AEFBI	0.298442	0.40776	N	-0.326501520660418	0.28144	1.549971	-0.150317486408982	0.33397	1.910	0.999512270289824	0.40117	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.9	4.03	0.46115	0.537000	0.22854	1.031000	0.23480	0.589000	0.31548	0.682000	0.28457	1.000000	0.68203	0.996000	0.76049	0.0:0.7251:0.1799:0.095	6.722	0.22525	814	0.42100	Nuclear hormone receptor, ligand-binding domain;Nuclear hormone receptor, ligand-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001089	0.000000	0.000000	0.000000	0.000000	0.008772	0.003049	0.000000	0.07143	997.83	31	chr6	33196472	.	C	T	997.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.803;DP=236;ExcessHet=0;FS=1.03;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=1.78;SOR=0.498	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1069	6	0	1	0
chr6	33203026	33203026	A	G	exonic	SLC39A7	.	nonsynonymous SNV	SLC39A7:NM_006979:exon6:c.A1057G:p.M353V,SLC39A7:NM_001077516:exon7:c.A1057G:p.M353V,SLC39A7:NM_001288777:exon7:c.A682G:p.M228V	.	427	1081	13	1	0	15	0.00689022	.	.	.	1155353	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.052	0.00513771836485	0.0004	0.000199681	0.0014	0.0001	0.0005	0.0008	0	0.0003	0.0023	0.0076	0.0011125	172	154602	rs200791329	0.0007	0.0007	0.0005	0.0010	0.0071	0.0007	0.0007	0.0066	0.0064	2.989e-05	0.0006	3.831e-05	0.0004	1.912e-05	0.0054	0.0003	0.0009	0.0071	0.0003	0.0003	0.0003	0.0004	0.0046	0.0003	0.0002	0.0031	0.0026	7.216e-05	0	0.0003	0	0.0012	0	0	0.0002	0	0.0046	0.236	0.17940	T	0.323	0.18959	T	0.004	0.12183	B	0.002	0.06944	B	0.000896	0.41231	D	0.240936	0.50993	0.31811	D	-1.575	0.00449	N	1.0	0.41392	T	0.78	0.01921	N	0.291	0.32921	-0.9702	0.37157	T	0.010	0.03627	T	10	0.005872607	0.00131	T	0.005138	0.13063	T	0.052	0.14661	.	.	0.19670166235	0.19296	0.4319747253043557	0.43114	0.46444146622	0.45918	0.492717683315	0.37815	T	0.002092	0.01499	T	-0.529099	0.00389	T	-0.528786	0.19409	T	0.0107716416624311	0.00152	T	.	.	.	0.11197671	0.26458	0.2000067	0.43911	0.11197671	0.26457	0.2000067	0.43910	-3.0	0.10181	T	.	.	0.077	0.07177	B	.;.	.;.	1.254774	0.16519	12.59	0.87520404131795138	0.17286	0.29912	0.23946	N	AEFBHCI	0.329543	0.42985	N	-0.897355671933636	0.10904	0.5234749	-0.694521476965749	0.17097	0.9075493	0.999812444888421	0.43459	0.645754	0.44609	0	0.696144	0.67643	0	0.697927	0.64325	0	0.723	0.93126	0	.	.	5.02	2.62	0.30337	0.262000	0.18229	3.112000	0.36364	0.738000	0.86027	0.031000	0.20493	0.978000	0.30204	0.997000	0.79791	0.7337:0.1731:0.0932:0.0	6.241	0.20000	721	0.55360	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002179	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.07143	148.44	33	chr6	33203026	.	A	G	148.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.473;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=0.176;SOR=0.941	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1152	6	0	1	0
chr6	33211285	33211285	G	A	exonic	RING1	.	nonsynonymous SNV	RING1:NM_002931:exon5:c.G583A:p.A195T	.	402	1104	16	0	0	16	0.00719424	.	.	.	2213135	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.072	0.0134455548713	0.0005	0.000998403	0.0009	0.0002	0.0015	0.0002	0	0.0010	0.0023	0.0009	0.0007503	116	154602	rs149445528	0.0007	0.0007	0.0006	0.0007	0.0111	0.0007	0.0006	0.0089	0.0081	0.0001	0.0011	0.0090	5.04e-05	0	0.0111	0.0005	0.0012	0.0006	0.0006	0.0007	0.0006	0.0007	0.0015	0.0005	0.0005	0.0010	0.0009	2.425e-05	0	0.0015	0.0081	0.0002	0	0.0034	0.0005	0.0009	0.0010	0.614	0.05404	T	0.783	0.04288	T	0.0	0.02946	B	0.001	0.04355	B	0.069904	0.21574	N	0.397179	0.944905	0.37467	D	0	0.06538	N	-1.75	0.83495	D	0.73	0.02068	N	0.156	0.16168	-1.0338	0.19236	T	0.133	0.44544	T	10	0.0042042136	0.00084	T	0.013446	0.32862	T	0.072	0.21020	.	.	0.377143385212	0.37329	0.12279097114794765	0.12205	0.549617653445	0.51857	0.731486678123	0.71723	T	0.040972	0.25705	T	-0.452123	0.01097	T	-0.472661	0.25230	T	0.00472563817380781	0.00051	T	.	.	.	0.042982373	0.06616	0.084812395	0.19538	0.042982373	0.06616	0.084812395	0.19538	-3.856	0.21644	T	.	.	0.066	0.02065	B	.	.	2.355580	0.30207	18.36	0.851505894610881	0.15716	0.57302	0.30341	D	AEFDBCI	0.090074	0.18254	N	-0.540804323890847	0.20772	1.097571	-0.391984423634195	0.25235	1.386541	0.998708718549784	0.37498	0.651	0.46895	0	0.606735	0.50208	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.33	1.29	0.20717	0.633000	0.24289	5.624000	0.49094	0.606000	0.46413	0.312000	0.25432	1.000000	0.68203	0.991000	0.66497	0.3937:0.0:0.6063:0.0	5.246	0.14813	712	0.56465	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002729	0.000000	0.000000	0.005376	0.000000	0.000000	0.006135	0.007576	0.07143	797.83	35	chr6	33211285	.	G	A	797.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.957;DP=242;ExcessHet=0;FS=2.067;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=0.583;SOR=0.996	GT:AD:DP:GQ:PL	0/1:35,33:68:99:808,0,884	6	0	1	0
chr6	33303829	33303829	C	G	exonic	TAPBP	.	nonsynonymous SNV	TAPBP:NM_172208:exon7:c.G1461C:p.W487C	Bare lymphocyte syndrome, type I, Autosomal recessive	0	1476	44	2	0	48	0.016	.	.	.	3886708	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.026	.	0.0020	0.00279553	0.0052	0.0026	0.0055	0.0056	0.0021	0.0032	0.0072	0.0115	0.0019211	297	154602	rs145837211	0.0016	0.0016	0.0014	0.0018	0.0127	0.0016	0.0015	0.0103	0.0095	0.0031	0.0027	0.0051	0.0014	0.0010	0.0127	0.0009	0.0022	0.0077	0.0020	0.0020	0.0017	0.0022	0.0048	0.0018	0.0017	0.0033	0.0028	0.0020	0	0.0021	0.0072	0.0025	0.0006	0.0204	0.0015	0.0043	0.0048	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.32	0.35219	T	-0.23	0.10656	N	0.176	0.18920	-0.9904	0.32500	T	0.022	0.09559	T	8	0.003785193	0.00071	T	.	.	.	0.026	0.05648	0.584	0.71118	0.0986583533028	0.09354	0.2775634209155518	0.27669	1.37107048066	0.84535	0.263246119022	0.05283	T	0.006466	0.05902	T	-0.578465	0.00197	T	-0.598856	0.12908	T	0.0680362654739556	0.08373	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.59622	A	.	.	0.513929	0.08826	5.606	0.94410838252651941	0.24808	0.04522	0.10151	N	AEFBCI	0.030595	0.03109	N	-0.883694909074238	0.11230	0.5408289	-0.971091330464309	0.10438	0.5257059	0.98929254224207	0.31780	0.631515	0.41029	0	0.697927	0.68747	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	3.64	0.854	0.18144	-0.061000	0.11650	0.068000	0.14222	0.589000	0.31548	0.001000	0.13787	0.000000	0.08366	0.021000	0.11733	0.1946:0.4782:0.2117:0.1155	2.115	0.03486	649	0.63102	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.012527	0.005051	0.014946	0.021277	0.000000	0.017241	0.000000	0.011364	0.07143	1649.45	118	chr6	33303829	.	C	G	1649.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.613;DP=294;ExcessHet=0;FS=2.389;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=0.551;SOR=0.941	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	6	0	1	0
chr6	33304305	33304305	T	C	exonic	TAPBP	.	nonsynonymous SNV	TAPBP:NM_172209:exon4:c.A941G:p.E314G,TAPBP:NM_003190:exon5:c.A1202G:p.E401G,TAPBP:NM_172208:exon5:c.A1202G:p.E401G	Bare lymphocyte syndrome, type I, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.0185951811644	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1174407355	1.379e-06	2.736e-06	1.37e-06	1.389e-06	9.05e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.05e-07	1.672e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.39097	T	0.005	0.72224	D	0.961	0.55431	D	0.494	0.47478	P	0.032025	0.25086	N	0.430498	0.972921	0.28810	N	.	.	.	2.22	0.18248	T	-2.56	0.57920	D	0.182	0.31027	-1.0183	0.24269	T	0.083	0.32556	T	10	0.2677787	0.44292	T	0.018595	0.40717	T	0.080	0.23350	0.48	0.55983	0.421920138742	0.41806	0.42454543123484895	0.42371	1.02953252697	0.75381	0.372900009155	0.21248	T	0.03452	0.23517	T	-0.188942	0.22413	T	-0.509178	0.21399	T	0.60816729839998	0.36726	D	0.873813	0.58316	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.53679	B	.;.;.;.	.;.;.;.	4.602438	0.72904	25.9	0.99726392794429597	0.82406	0.72264	0.35377	D	AEFDBCI	0.412406	0.48249	N	0.278896839076456	0.55079	3.672372	0.33415150180774	0.57558	3.921958	0.99995540562731	0.48110	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.57	4.42	0.52775	1.833000	0.38801	4.056000	0.41548	0.568000	0.28809	0.911000	0.31706	1.000000	0.68203	0.955000	0.50612	0.0:0.0947:0.0:0.9053	7.442	0.26358	649	0.63102	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1324.44	35	chr6	33304305	.	T	C	1324.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.076;DP=316;ExcessHet=0;FS=1.406;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=-0.943;SOR=0.836	GT:AD:DP:GQ:PL	0/1:76,54:130:99:1335,0,1985	6	0	1	0
chr6	33305046	33305046	C	A	exonic	TAPBP	.	nonsynonymous SNV	TAPBP:NM_172209:exon3:c.G550T:p.A184S,TAPBP:NM_003190:exon4:c.G811T:p.A271S,TAPBP:NM_172208:exon4:c.G811T:p.A271S	Bare lymphocyte syndrome, type I, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0126163232645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.58626	D	0.0	0.92824	D	0.997	0.70673	D	0.837	0.59984	P	0.000006	0.62929	D	0.107907	0.72335	0.33641	D	.	.	.	1.39	0.34841	T	-1.42	0.35597	N	0.656	0.70263	-0.8518	0.51844	T	0.143	0.46532	T	10	0.79180574	0.78725	D	0.012616	0.31353	T	0.173	0.43840	0.691	0.82843	0.420939154896	0.41709	0.5304176261749688	0.52965	1.05958384172	0.76439	0.559363245964	0.47179	T	0.067543	0.33517	T	0.0321773	0.56012	T	-0.191556	0.55444	T	0.901582929004822	0.55435	D	0.918208	0.70605	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	0.55222	B	.;.;.;.	.;.;.;.	4.548734	0.71574	25.7	0.9975267434811188	0.84382	0.68001	0.33639	D	AEFBHCI	0.318882	0.42245	N	0.571661364379152	0.71411	5.646703	0.534582167980006	0.70332	5.489682	0.99999447960723	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.69	4.69	0.58546	2.347000	0.43692	7.522000	0.59778	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.609000	0.31615	0.0:1.0:0.0:0.0	12.981	0.57966	645	0.63593	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	30	chr6	33305046	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=194;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1075	6	1	0	0
chr6	33305234	33305234	C	T	exonic	TAPBP	.	nonsynonymous SNV	TAPBP:NM_172209:exon3:c.G362A:p.R121H,TAPBP:NM_003190:exon4:c.G623A:p.R208H,TAPBP:NM_172208:exon4:c.G623A:p.R208H	Bare lymphocyte syndrome, type I, Autosomal recessive	0	1520	1	0	1	2	0.000328839	.	.	.	721986	MHC_class_I_deficiency	MONDO:MONDO:0011476,MedGen:C1858266,OMIM:PS604571,Orphanet:34592	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.044	0.00351348650301	0.0011	0.000199681	0.0003	0.0035	0.0003	0	0	1.537e-05	0	0	0.0002911	45	154602	rs138273100	9.652e-05	9.85e-05	0.0001	8.532e-05	0.0028	8.315e-05	7.855e-05	0.0023	0.0022	0.0028	0.0002	0	0	0	0.0003	1.62e-05	0.0003	1.16e-05	0.0012	0.0012	0.0013	0.0010	0.0039	0.0010	0.0010	0.0034	0.0032	0.0039	0	0.0007	0	0	0	0	5.879e-05	0.0024	0	0.341	0.19430	T	0.0	0.92824	D	0.269	0.31731	B	0.038	0.23361	B	0.001008	0.40652	N	0.247960	0.557886	0.31281	N	.	.	.	1.49	0.32238	T	-1.11	0.30140	N	0.168	0.27316	-1.0484	0.14846	T	0.022	0.09147	T	10	0.01377219	0.00291	T	0.003513	0.07969	T	0.044	0.11924	.	.	0.542896531885	0.53943	0.4411217493576432	0.44029	0.531617189357	0.50652	0.330645412207	0.15032	T	0.025384	0.18993	T	-0.505527	0.00532	T	-0.498665	0.22486	T	0.019364164129644	0.00641	T	0.884811	0.60904	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.21011	B	.;.;.;.;.	.;.;.;.;.	2.214639	0.28255	17.74	0.99032333686875607	0.50830	0.41158	0.26596	N	AEFBCI	0.185543	0.31286	N	-0.140147229212249	0.35655	2.050773	-0.0640259470637805	0.36890	2.152682	0.997294864156501	0.35467	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.96	3.06	0.34374	0.327000	0.19408	-0.410000	0.09352	0.589000	0.31548	0.988000	0.36536	0.064000	0.22093	0.999000	0.91618	0.0:0.7663:0.0:0.2337	6.579	0.21781	645	0.63593	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1429	33.22	37	chr6	33305234	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=226;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1276	6	1	0	0
chr6	33315817	33315817	G	A	exonic	ZBTB22	.	nonsynonymous SNV	ZBTB22:NM_001145338:exon2:c.C1100T:p.P367L,ZBTB22:NM_005453:exon2:c.C1100T:p.P367L	.	417	1098	7	0	0	7	0.00317749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0165891258494	0.0002	0.000998403	0.0007	9.615e-05	0.0002	0.0024	0	0.0005	0	0.0017	0.0006339	98	154602	rs144433957	0.0004	0.0004	0.0004	0.0005	0.0024	0.0004	0.0004	0.0015	0.0014	0.0001	0.0002	0.0037	0.0019	0	0.0024	0.0002	0.0007	0.0017	0.0003	0.0003	0.0003	0.0002	0.0019	0.0002	0.0002	0.0010	0.0007	0	0	0.0001	0.0020	0.0012	0	0.0034	0.0002	0.0009	0.0019	0.17	0.22833	T	0.377	0.16134	T	0.9	0.49598	P	0.22	0.37792	B	0.005015	0.33181	N	0.000000	0.998722	0.45339	D	0.805	0.20218	L	3.49	0.05071	T	-0.19	0.09965	N	0.134	0.13198	-0.7096	0.59972	T	0.006	0.01870	T	10	0.00542295	0.00119	T	0.016589	0.37919	T	0.085	0.24743	.	.	0.44318313171	0.43938	0.3568708772449162	0.35601	0.634268845006	0.57287	0.681673705578	0.64509	T	0.006876	0.06306	T	-0.467899	0.00876	T	-0.450739	0.27616	T	0.0370227934690009	0.03159	T	0.780822	0.41560	T	0.15056697	0.34271	0.21324982	0.45827	0.15056697	0.34270	0.21324982	0.45827	-3.056	0.10798	T	.	.	0.178	0.38782	B	.;.	.;.	2.784147	0.36579	20.3	0.81510298013693272	0.13721	0.69865	0.34358	D	AEFBCI	0.247420	0.36800	N	0.0393857772258344	0.43655	2.654243	0.101876411518386	0.44643	2.742195	0.999995624337189	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.26897	0.05253	2	0.636168	0.56350	0	.	.	4.09	4.09	0.47038	2.641000	0.46254	7.439000	0.58857	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	13.851	0.62994	616	0.66398	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002179	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.1429	2292.26	35	chr6	33315817	.	G	A	2292.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.7;DP=352;ExcessHet=0.3476;FS=5.006;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.246;SOR=0.858	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,115,1460	5	0	2	0
chr6	33405054	33405054	T	C	exonic	KIFC1	.	nonsynonymous SNV	KIFC1:NM_002263:exon7:c.T959C:p.V320A	.	402	1105	13	2	0	17	0.00763359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00316937780823	0.0002	0.00199681	0.0010	9.649e-05	0.0006	0.0028	0	0.0007	0	0.0029	0.0009832	152	154602	rs149106445	0.0006	0.0006	0.0005	0.0007	0.0047	0.0006	0.0005	0.0033	0.0028	0.0001	0.0005	0.0038	0.0021	0	0.0047	0.0003	0.0011	0.0027	0.0004	0.0004	0.0004	0.0004	0.0031	0.0004	0.0003	0.0019	0.0015	4.81e-05	0	0.0004	0.0026	0.0014	0	0.0102	0.0003	0.0014	0.0031	0.13	0.26740	T	0.176	0.29843	T	0.016	0.17332	B	0.015	0.17295	B	0.016577	0.27944	N	0.371861	0.948109	0.37596	D	0.365	0.12025	N	1.0	0.41392	T	-1.82	0.42763	N	0.12	0.11054	-1.0574	0.12414	T	0.022	0.09330	T	10	0.008636802	0.00196	T	0.003169	0.06936	T	0.080	0.23350	.	.	0.504541157375	0.50091	0.4630334206756604	0.46222	0.481891860051	0.47163	0.637899279594	0.58265	T	0.036619	0.24171	T	-0.522888	0.00423	T	-0.528172	0.19469	T	0.00617480142371303	0.00068	T	.	.	.	0.103075996	0.24361	0.10514459	0.25270	0.103075996	0.24361	0.10514459	0.25269	-4.085	0.25068	T	.	.	0.097	0.15966	B	.	.	2.926918	0.38873	20.8	0.98247475137208662	0.39539	0.70780	0.34733	D	AEFDBCI	0.093667	0.18950	N	-0.314474572505403	0.28597	1.578677	-0.101325459073743	0.35337	2.043223	0.999978134242809	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.43	4.26	0.49832	1.547000	0.35798	3.989000	0.40972	0.665000	0.62972	0.496000	0.26925	1.000000	0.68203	0.994000	0.71098	0.0:0.1839:0.0:0.8161	5.338	0.15274	366	0.84579	Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002723	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.1429	3613.25	34	chr6	33405054	.	T	C	3613.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.85;DP=454;ExcessHet=0.3476;FS=0.858;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=0.412;SOR=0.751	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1199	5	0	2	0
chr6	33670361	33670361	C	A	exonic	ITPR3	.	nonsynonymous SNV	ITPR3:NM_002224:exon19:c.C2226A:p.D742E	.	411	1081	28	2	0	32	0.0145852	.	.	.	699552	not_provided|ITPR3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.552	.	0.0050	0.0061901	0.0032	0.0129	0.0013	0.0020	0.0009	0.0013	0.0022	0.0076	0.0028654	443	154602	rs2229633	0.0016	0.0016	0.0014	0.0018	0.0110	0.0015	0.0015	0.0101	0.0097	0.0110	0.0028	0.0061	0.0013	0.0010	0.0092	0.0007	0.0019	0.0068	0.0045	0.0045	0.0047	0.0042	0.0114	0.0042	0.0041	0.0106	0.0102	0.0114	0	0.0031	0.0086	0.0021	0.0006	0.0034	0.0012	0.0047	0.0041	0.179	0.22053	T	0.147	0.32783	T	0.999	0.77913	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.997423	0.43877	D	2.305	0.65957	M	-3.04	0.92357	D	-3.0	0.62343	D	0.629	0.73735	0.374	0.88703	D	0.734	0.90891	D	10	0.0137833655	0.00291	T	.	.	.	0.552	0.81485	0.275	0.22687	0.934565858499	0.93389	0.6374912199327021	0.63683	1.17388174223	0.79838	0.734442591667	0.72156	T	0.672051	0.90277	D	-0.226168	0.17158	T	-0.0866196	0.64416	T	0.0238974007932212	0.01131	T	0.969303	0.88939	D	0.48998684	0.66502	0.24656922	0.50169	0.48998684	0.66503	0.24656922	0.50168	-10.948	0.79372	D	.	.	0.949	0.86952	P	.;.	.;.	3.926533	0.57362	23.8	0.9967623208858839	0.78912	0.93438	0.58217	D	AEFGBI	0.555448	0.56589	D	0.182642170245388	0.50367	3.227275	0.133167075273723	0.46257	2.87456	0.999966465697299	0.48965	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.81	2.94	0.33188	2.131000	0.41696	1.417000	0.26331	-0.187000	0.09635	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.8247:0.0:0.1753	9.947	0.40783	511	0.75131	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	1783.44	134	chr6	33670361	.	C	A	1783.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.64;DP=325;ExcessHet=0;FS=2.184;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=1.8;SOR=0.573	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	6	0	1	0
chr6	33723164	33723164	G	C	exonic	IP6K3	.	stopgain	IP6K3:NM_054111:exon6:c.C789G:p.Y263X,IP6K3:NM_001142883:exon7:c.C789G:p.Y263X	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000199681	0.0002	0	0	0	0	0.0003	0	0	0.0001746	27	154602	rs149420602	0.0001	0.0001	8.408e-05	0.0001	0.0005	9.889e-05	9.358e-05	0.0001	0.0001	0	9.92e-05	0.0002	0	0	0.0005	0.0001	0.0002	0	9.848e-05	9.842e-05	8.993e-05	0.0001	0.0002	6.002e-05	4.876e-05	0.0001	7.894e-05	7.215e-05	0	0	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.721953	0.09927	N	0.878776	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.055	0.03283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308712	0.83648	D	0.507389	0.94782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive|Recessive;Recessive|Recessive	High|High;High|High	7.719312	0.96795	36	0.99698435306912481	0.80453	0.82998	0.42155	D	AEFBHCI	0.389589	0.46875	N	0.582833279244353	0.72105	5.753411	0.419927020402046	0.62809	4.50258	0.909018937571613	0.26300	0.533608	0.22052	0	0.610034	0.51514	0	0.685742	0.62368	0	0.530356	0.10902	0	.	.	5.74	3.96	0.45097	0.481000	0.21969	0.751000	0.21237	-0.106000	0.15538	0.999000	0.42656	0.998000	0.33993	0.948000	0.49324	0.2123:0.1261:0.6616:0.0	7.075	0.24376	657	0.62240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	533.83	20	chr6	33723164	.	G	C	533.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.68;DP=165;ExcessHet=0;FS=3.536;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.25;ReadPosRankSum=-0.264;SOR=1.483	GT:AD:DP:GQ:PL	0/1:17,18:35:99:544,0,424	6	0	1	0
chr6	34871686	34871686	A	G	exonic	UHRF1BP1	.	nonsynonymous SNV	UHRF1BP1:NM_017754:exon19:c.A4084G:p.I1362V	.	430	1076	16	0	0	16	0.00738007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0065	0.00479233	0.0071	0.0011	0.0090	0.0007	0.0060	0.0085	0.0157	0.0064	0.0068175	1054	154602	rs147415559	0.0075	0.0075	0.0073	0.0077	0.0146	0.0074	0.0073	0.0121	0.0111	0.0014	0.0089	0.0133	0.0003	0.0065	0.0146	0.0078	0.0079	0.0071	0.0063	0.0064	0.0063	0.0063	0.0090	0.0060	0.0059	0.0078	0.0076	0.0012	0.0286	0.0090	0.0135	0.0002	0.0063	0.0238	0.0084	0.0114	0.0068	0.107	0.29554	T	0.306	0.19972	T	0.0	0.02946	B	0.002	0.06944	B	0.013352	0.28869	N	0.388740	0.999976	0.19072	N	1.895	0.50365	L	2.93	0.10386	T	-0.54	0.17210	N	0.135	0.26111	-0.9540	0.40274	T	0.005	0.01833	T	10	0.0040123165	0.00078	T	.	.	.	0.038	0.09825	.	.	0.166414681773	0.16258	0.3526776110218733	0.35181	0.107623241374	0.12144	0.248244732618	0.03585	T	0.014213	0.12144	T	-0.606782	0.00132	T	-0.63798	0.09816	T	0.00257089722774354	0.00027	T	0.606339	0.22814	T	0.021554956	0.00765	0.030293586	0.01466	0.021554956	0.00765	0.030293586	0.01466	-3.97	0.23353	T	.	.	0.086	0.10691	B	.;.	.;.	0.412397	0.07833	4.527	0.9730147765059125	0.33280	0.19127	0.20538	N	AEFBI	0.088701	0.17982	N	-0.7715972624988	0.14053	0.6970028	-0.715032602805248	0.16587	0.8781495	0.131536229338027	0.17100	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.08	-3.13	0.04944	-0.455000	0.06837	-0.094000	0.12022	-0.053000	0.16966	0.000000	0.06391	0.000000	0.08366	0.991000	0.66497	0.3455:0.3991:0.061:0.1944	4.156	0.09727	290	0.88477	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015106	0.030303	0.017663	0.017544	0.000000	0.008621	0.012195	0.007576	0.1429	2399.24	39	chr6	34871686	.	A	G	2399.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.554;DP=402;ExcessHet=0.3476;FS=1.565;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=-0.78;SOR=0.804	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1064	5	0	2	0
chr6	35455814	35455814	C	T	exonic	FANCE	.	nonsynonymous SNV	FANCE:NM_021922:exon2:c.C316T:p.R106W	Fanconi anemia, complementation group E, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	521977	Fanconi_anemia_complementation_group_E|not_provided	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901,Orphanet:84|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.024	0.00416291182859	.	.	0.0001	9.63e-05	8.64e-05	0.0002	0.0002	4.501e-05	0.0011	0.0005	0.0001164	18	154602	rs759034838	7.183e-05	7.182e-05	5.717e-05	8.663e-05	0.0005	6.047e-05	5.595e-05	0.0004	0.0003	5.974e-05	0	3.826e-05	0.0003	1.873e-05	0.0003	3.957e-05	1.656e-05	0.0005	9.846e-05	9.842e-05	3.854e-05	0.0002	0.0004	6.001e-05	4.875e-05	7.29e-05	4.288e-05	0.0001	0	6.531e-05	0	0.0004	0	0.0034	4.41e-05	0	0.0004	0.25	0.17126	T	0.117	0.36365	T	0.004	0.12183	B	0.001	0.04355	B	0.527332	0.11676	N	0.783908	1	0.08975	N	0.14	0.08730	N	0.77	0.49642	T	-1.36	0.33798	N	0.137	0.13484	-1.0161	0.24980	T	0.027	0.11397	T	10	0.024418712	0.00671	T	0.004163	0.09995	T	0.024	0.04979	0.377	0.39156	0.490560587058	0.48687	0.2912424786396796	0.29037	0.10995767528	0.12399	0.23824763298	0.02635	T	0.146354	0.48392	T	-0.511035	0.00495	T	-0.643882	0.09388	T	0.00961939858253731	0.00125	T	0.761424	0.38629	T	0.032401048	0.03259	0.040817123	0.04499	0.032401048	0.03258	0.040817123	0.04499	-7.666	0.58771	D	0.17876473033171714	0.22927	0.082	0.08560	B	.	.	-0.268935	0.02757	0.370	0.72192827448609453	0.09888	0.02025	0.06077	N	AEFBI	0.048100	0.08173	N	-1.28912298172442	0.03805	0.1706482	-1.35162010028962	0.03786	0.1773561	0.839435956046666	0.24839	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.37	-2.48	0.06052	-2.040000	0.01504	-1.520000	0.05255	-0.824000	0.02932	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2524:0.2723:0.111:0.3643	0.784	0.00978	596	0.68392	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2337.63	79	chr6	35455814	.	C	T	2337.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.94;DP=582;ExcessHet=0;FS=7.975;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=-0.493;SOR=1.255	GT:AD:DP:GQ:PL	0/0:101,0:101:99:0,120,1800	6	0	1	0
chr6	35835473	35835473	A	G	exonic	SRPK1	.	nonsynonymous SNV	SRPK1:NM_003137:exon16:c.T1799C:p.I600T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.690	0.121324620915	.	0.000199681	9.209e-06	0	0	0	0	0	0	7.003e-05	1.29e-05	2	154602	rs539500451	4.793e-06	6.156e-06	4.087e-06	5.507e-06	5.977e-05	1.99e-06	1.28e-06	9.9e-06	3.7e-06	5.977e-05	0	0	0	0	0	4.499e-06	0	0	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.998	0.88582	D	.	.	.	.	1	0.81001	D	2.515	0.73286	M	2.1	0.19990	T	-4.66	0.79482	D	0.718	0.81459	-1.0263	0.21658	T	0.094	0.35684	T	9	0.81816316	0.81039	D	0.121325	0.80206	D	0.690	0.88726	0.723	0.85761	0.680966952415	0.67825	0.701705663803384	0.70111	1.05219851348	0.76191	0.912048220634	0.97661	D	0.187979	0.54175	T	0.26527	0.80014	D	0.143266	0.79755	D	0.904688659125056	0.55822	D	0.986801	0.95481	D	0.78970605	0.83254	0.7955776	0.87993	0.78970605	0.83256	0.7955776	0.87994	-13.134	0.90090	D	.	.	1.000	0.99219	P	.;.;.	.;.;.	5.093250	0.85064	28.5	0.99678913926992063	0.79108	0.99167	0.92217	D	AEFBI	0.899675	0.84433	D	0.809544352620506	0.86699	8.970198	0.795664345187415	0.89489	9.996534	0.999999999999478	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.49	5.49	0.81022	9.321000	0.95528	11.251000	0.90746	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.583	0.76198	485	0.77085	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1420.04	38	chr6	35835473	.	A	G	1420.04	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.195;DP=306;ExcessHet=0.3476;FS=0.693;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.835;SOR=0.797	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	5	0	2	0
chr6	36319517	36319517	G	A	exonic	BNIP5	.	nonsynonymous SNV	BNIP5:NM_001010903:exon11:c.C1762T:p.H588Y	.	425	1055	40	2	0	44	0.0204271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0004	0.00499201	0.0048	0.0002	0.0014	0.0001	0	0.0008	0.0033	0.0311	0.0042108	651	154602	rs141156956	0.0024	0.0024	0.0014	0.0034	0.0310	0.0023	0.0023	0.0300	0.0296	8.961e-05	0.0009	0.0017	2.519e-05	3.744e-05	0.0087	0.0005	0.0030	0.0310	0.0017	0.0017	0.0012	0.0022	0.0328	0.0015	0.0014	0.0286	0.0270	0.0001	0	0.0010	0.0020	0.0004	9.414e-05	0.0204	0.0008	0.0009	0.0328	1.0	0.00964	T	1.0	0.01155	T	0.989	0.62824	D	0.689	0.53736	P	0.121568	0.02730	N	1.775450	1	0.08975	N	1.59	0.40313	L	0.92	0.44461	T	-3.18	0.64478	D	0.24	0.27077	-1.0831	0.06758	T	0.084	0.32900	T	10	0.004032612	0.00078	T	.	.	.	0.053	0.14996	.	.	0.0762999501168	0.06990	0.07542998746863407	0.07478	0.0447508738287	0.04840	.	.	.	0.11461	0.43256	T	-0.657847	0.00065	T	-0.693353	0.06197	T	0.0419195599550089	0.04041	T	0.349965	0.07784	T	0.06261554	0.13096	0.056656428	0.10162	0.06261554	0.13096	0.056656428	0.10161	-3.888	0.22122	T	.	.	0.094	0.14568	B	.	.	1.114042	0.14994	11.50	0.95584321604298716	0.27297	0.03715	0.09002	N	AEFDGBHCI	0.076169	0.15316	N	-0.188137897838867	0.33628	1.909955	-0.349527260884552	0.26523	1.465581	0.999999975344712	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	5.55	1.02	0.19102	0.141000	0.15897	-1.329000	0.05702	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.440000	0.27671	0.086:0.0:0.387:0.527	6.729	0.22564	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010081	0.005051	0.004076	0.017544	0.000000	0.017241	0.003067	0.018939	0.1667	3130.87	94	chr6	36319517	.	G	A	3130.87	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.341;DP=406;ExcessHet=0.4139;FS=3.388;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.787;SOR=0.507	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1324	4	0	2	1
chr6	36330545	36330545	T	G	exonic	BNIP5	.	nonsynonymous SNV	BNIP5:NM_001010903:exon2:c.A146C:p.H49P	.	430	1052	38	2	0	42	0.0195713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0031181435307	0.0018	0.00139776	0.0023	0.0002	0.0008	0.0002	0	0.0025	0.0034	0.0055	0.0020828	322	154602	rs150068380	0.0016	0.0016	0.0014	0.0018	0.0107	0.0016	0.0015	0.0086	0.0078	0.0006	0.0017	0.0078	7.557e-05	5.638e-05	0.0107	0.0013	0.0028	0.0047	0.0014	0.0014	0.0011	0.0017	0.0058	0.0013	0.0012	0.0041	0.0036	0.0002	0	0.0029	0.0069	0	0	0.0272	0.0014	0.0033	0.0058	0.108	0.29420	T	0.224	0.25591	T	0.001	0.07471	B	0.001	0.04355	B	0.777539	0.06634	N	1.144070	1	0.08975	N	1.445	0.36358	L	0.94	0.43672	T	-3.45	0.67589	D	0.181	0.19593	-0.9891	0.32828	T	0.026	0.11309	T	10	0.005949497	0.00133	T	0.003118	0.06786	T	0.013	0.01715	.	.	0.0551355673512	0.04727	0.025810512824234532	0.02532	0.0174000668708	0.01692	.	.	.	0.096922	0.39923	T	-0.621057	0.00108	T	-0.663929	0.08003	T	0.00478911691984368	0.00051	T	0.285671	0.05095	T	0.20796922	0.43018	0.21230693	0.45695	0.20796922	0.43018	0.21230693	0.45694	-1.757	0.02384	T	.	.	0.073	0.04681	B	.	.	0.747257	0.11166	7.807	0.67805466130581393	0.08465	0.01477	0.04919	N	AEFDBI	0.110001	0.21828	N	-1.16762852803248	0.05495	0.2506952	-1.18936839091032	0.06087	0.2919138	0.10476118711672	0.16484	0.516011	0.20929	0	0.610034	0.51514	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	4.33	1.31	0.20837	-0.355000	0.07721	-0.137000	0.11557	-0.375000	0.05424	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.5345:0.2178:0.2477	4.129	0.09610	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013092	0.000000	0.010870	0.011696	0.050000	0.008621	0.024390	0.011364	0.07143	885.53	36	chr6	36330545	.	T	G	885.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.742;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=-1.377;SOR=0.665	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1065	6	0	1	0
chr6	39310980	39310980	C	T	exonic	KCNK17	.	nonsynonymous SNV	KCNK17:NM_001135111:exon2:c.G265A:p.A89T,KCNK17:NM_031460:exon2:c.G265A:p.A89T	.	433	1079	10	0	0	10	0.00461255	.	.	.	2823003	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.058	0.00538159359875	0.0008	0.00159744	0.0011	9.639e-05	0.0005	0	0.0003	0.0012	0	0.0032	0.0010867	168	154602	rs143146161	0.0010	0.0010	0.0009	0.0011	0.0056	0.0010	0.0009	0.0040	0.0035	0.0002	0.0005	0	0	0.0001	0.0056	0.0009	0.0008	0.0034	0.0009	0.0009	0.0009	0.0008	0.0027	0.0007	0.0007	0.0016	0.0013	0.0002	0	0.0015	0	0	0.0003	0	0.0012	0.0024	0.0027	0.251	0.27194	T	0.138	0.41239	T	0.009	0.15093	B	0.021	0.19346	B	0.494553	0.12019	N	0.718395	1	0.08975	N	-0.155	0.04359	N	2.31	0.16794	T	0.13	0.05503	N	0.077	0.05162	-0.9417	0.42346	T	0.008	0.02638	T	10	0.00647521	0.00147	T	0.005382	0.13801	T	0.058	0.16647	.	.	0.253726318573	0.24972	0.36932081505905584	0.36846	0.212328705476	0.23733	0.270790725946	0.06244	T	0.010447	0.09434	T	-0.721011	0.00027	T	-0.812762	0.01604	T	0.00312089726623152	0.00033	T	0.659934	0.26896	T	0.043178026	0.06682	0.049226243	0.07479	0.043178026	0.06682	0.049226243	0.07478	-3.619	0.27155	T	0.11920041416129093	0.11079	0.068	0.06433	B	.;.	.;.	0.546904	0.09157	5.938	0.95790334705674085	0.27828	0.03312	0.08375	N	AEFDBCI	0.060169	0.11417	N	-1.00257577590257	0.08550	0.4013161	-1.0111631506793	0.09539	0.4751674	0.0183516225765985	0.13049	0.676563	0.55306	0	0.59043	0.45803	0	0.673471	0.61138	0	0.542086	0.14980	0	.	.	5.42	-1.41	0.08473	-1.064000	0.03572	-0.638000	0.08091	0.589000	0.31548	0.000000	0.06391	0.000000	0.08366	0.500000	0.29017	0.2717:0.2985:0.0:0.4298	3.789	0.08233	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.011364	0.1429	2548.44	42	chr6	39310980	.	C	T	2548.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.44;DP=355;ExcessHet=0.3476;FS=0.515;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.183;SOR=0.744	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1306	5	0	2	0
chr6	41194551	41194551	T	A	exonic	TREML2	.	nonsynonymous SNV	TREML2:NM_024807:exon3:c.A659T:p.D220V	.	423	1090	7	2	0	11	0.00502054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00466637289067	.	0.000998403	0.0012	9.825e-05	0.0004	0	0	4.54e-05	0	0.0082	0.0009638	149	154602	rs531665321	0.0006	0.0006	0.0003	0.0009	0.0095	0.0006	0.0006	0.0090	0.0088	2.987e-05	4.472e-05	0	2.519e-05	0	0.0019	3.417e-05	0.0006	0.0095	0.0003	0.0002	5.162e-05	0.0005	0.0078	0.0002	0.0002	0.0058	0.0051	0	0	0	0	0	0	0	1.474e-05	0	0.0078	0.155	0.24183	T	0.158	0.31629	T	0.017	0.17573	B	0.007	0.12992	B	0.985788	0.07870	N	1.007950	0.999999	0.08975	N	-0.345	0.03330	N	3.4	0.05642	T	0.18	0.05035	N	0.057	0.02861	-0.9042	0.47538	T	0.004	0.01400	T	10	0.0045382977	0.00094	T	0.004666	0.11566	T	0.017	0.02790	0.295	0.25881	0.152612264143	0.14878	0.3498052761955854	0.34894	0.298096867107	0.32188	0.244690015912	0.03229	T	0.001453	0.00908	T	-0.699384	0.00037	T	-0.771843	0.02708	T	0.00828773769766304	0.00100	T	0.515049	0.16594	T	0.070450164	0.15517	0.045661457	0.06193	0.070450164	0.15517	0.045661457	0.06193	-2.529	0.05983	T	.	.	0.101	0.17445	B	.	.	0.504523	0.08736	5.510	0.52225886284445622	0.04708	0.02196	0.06414	N	AEFBI	0.037214	0.05083	N	-1.13709118895634	0.05995	0.2748214	-1.16486796287329	0.06505	0.3133402	0.113165199167976	0.16702	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	3.92	0.988	0.18914	0.425000	0.21065	1.781000	0.28717	-0.249000	0.07183	0.012000	0.18695	0.065000	0.22112	0.029000	0.12982	0.1094:0.0:0.4962:0.3944	4.583	0.11663	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001009	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.07143	1185.53	36	chr6	41194551	.	T	A	1185.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.687;DP=290;ExcessHet=0;FS=0.742;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-0.349;SOR=0.601	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1003	6	0	1	0
chr6	41736997	41736997	C	A	exonic	PGC	.	nonsynonymous SNV	PGC:NM_002630:exon9:c.G1022T:p.G341V	.	415	1077	28	2	0	32	0.0146386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0221586271214	0.0005	0.00119808	0.0016	0	0.0003	0.0001	0.0002	0.0007	0.0023	0.0087	0.0013066	202	154602	rs146485859	0.0009	0.0009	0.0007	0.0012	0.0080	0.0009	0.0009	0.0075	0.0073	8.966e-05	0.0004	0.0013	0.0001	9.37e-05	0.0061	0.0005	0.0015	0.0080	0.0007	0.0007	0.0005	0.0008	0.0075	0.0006	0.0005	0.0055	0.0049	0.0002	0	0.0004	0.0023	0.0002	0	0.0068	0.0006	0.0014	0.0075	0.001	0.78490	D	0.078	0.42261	T	0.936	0.52359	P	0.847	0.60522	P	0.746298	0.06458	N	1.119980	0.999995	0.08975	N	3.685	0.94485	H	1.07	0.39586	T	-5.73	0.87611	D	0.418	0.45803	-0.9639	0.38428	T	0.181	0.52889	T	10	0.017688364	0.00379	T	0.022159	0.45019	T	0.071	0.20720	.	.	0.53177700221	0.52827	0.8226655142697801	0.82223	0.458892560868	0.45492	0.305901169777	0.11288	T	0.087464	0.37947	T	-0.459583	0.00989	T	-0.427808	0.30186	T	0.126171198449256	0.15024	T	0.59644	0.22167	T	0.3811278	0.59398	0.4182421	0.65854	0.3811278	0.59398	0.4182421	0.65854	-9.789	0.72638	D	.	.	0.359	0.57142	A	.	.	2.044254	0.25985	16.96	0.98421708193010871	0.41288	0.23523	0.22103	N	AEFDBI	0.215925	0.34123	N	-0.318322445950699	0.28453	1.569451	-0.613910533028169	0.19135	1.025364	0.999942990448201	0.47345	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.564101	0.26826	0	.	.	4.82	-0.397	0.11804	0.696000	0.25220	-1.193000	0.06063	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.603:0.1171:0.28	6.667	0.22237	605	0.67457	Peptidase family A1 domain|Peptidase family A1 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008586	0.000000	0.004087	0.005848	0.000000	0.034483	0.009202	0.015267	0.07143	646.44	42	chr6	41736997	.	C	A	646.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.606;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.435;SOR=0.773	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,116,1558	6	0	1	0
chr6	42852135	42852135	C	A	exonic	BICRAL	.	nonsynonymous SNV	BICRAL:NM_015349:exon6:c.C1883A:p.P628H,BICRAL:NM_001318819:exon8:c.C1883A:p.P628H	.	421	1090	9	2	0	13	0.00592795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00826715723514	0.0002	0.00179712	0.0012	0	8.648e-05	0	0	0.0003	0.0044	0.0076	0.0010608	164	154602	rs140518750	0.0006	0.0006	0.0004	0.0008	0.0071	0.0006	0.0006	0.0066	0.0064	5.975e-05	0.0002	0	2.519e-05	0	0.0029	0.0002	0.0007	0.0071	0.0003	0.0003	0.0002	0.0004	0.0056	0.0002	0.0002	0.0040	0.0034	0	0	0	0	0.0002	0	0.0068	0.0002	0.0009	0.0056	0.029	0.45756	D	0.157	0.31730	T	0.115	0.26429	B	0.176	0.35644	B	0.022867	0.26551	N	0.327767	0.987212	0.24539	N	.	.	.	0.81	0.48460	T	-2.1	0.47852	N	0.195	0.21449	-1.0862	0.06191	T	0.035	0.15204	T	10	0.0053429306	0.00117	T	0.008267	0.21903	T	0.066	0.19193	.	.	0.043077524339	0.03247	0.19289496972479386	0.19207	0.438571413743	0.43886	0.326748043299	0.14443	T	0.03144	0.22043	T	-0.513038	0.00482	T	-0.505435	0.21785	T	0.0457464214101985	0.04737	T	0.741226	0.36032	T	0.10629884	0.25134	0.102523215	0.24576	0.10629884	0.25133	0.102523215	0.24575	-4.605	0.32234	T	.	.	0.094	0.16929	B	.;.;.	.;.;.	3.185156	0.43250	21.7	0.9915983892222997	0.54071	0.93826	0.59302	D	AEFDBI	0.186060	0.31337	N	-0.0798837637635556	0.38274	2.239237	0.0932719128397582	0.44209	2.707128	0.966780486418152	0.28929	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.95	4.95	0.64894	2.290000	0.43193	7.304000	0.58101	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9155:0.0:0.0845	11.281	0.48431	375	0.84013	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1035.44	35	chr6	42852135	.	C	A	1035.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.035;DP=248;ExcessHet=0;FS=2.127;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=-0.486;SOR=0.869	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1280	6	0	1	0
chr6	42864976	42864976	C	T	exonic	BICRAL	.	nonsynonymous SNV	BICRAL:NM_015349:exon12:c.C2770T:p.R924W,BICRAL:NM_001318819:exon14:c.C2770T:p.R924W	.	0	225	1	0	0	1	0.00221729	.	.	.	3427634	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.0157603866465	.	0.000199681	4.128e-05	0	0	0	0	6.009e-05	0	6.061e-05	3.88e-05	6	154602	rs575050000	3.762e-05	3.762e-05	3.675e-05	3.85e-05	0.0003	2.96e-05	2.656e-05	6.092e-05	2.521e-05	0	2.236e-05	0	0.0001	1.874e-05	0.0003	3.687e-05	8.279e-05	1.159e-05	1.97e-05	1.969e-05	0	4.03e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.541e-05	0	0.0002	0	0	0	0	0.0002	0.033	0.44358	D	0.023	0.57104	D	0.987	0.61912	D	0.431	0.45421	B	0.026233	0.25954	N	0.348813	0.925787	0.27184	N	.	.	.	0.79	0.49068	T	-0.6	0.17834	N	0.212	0.23632	-1.0270	0.21429	T	0.042	0.18202	T	10	0.08703971	0.14853	T	0.01576	0.36670	T	0.079	0.23065	0.164	0.06842	0.31316556289	0.30919	0.27164198626460495	0.27077	0.659128260131	0.58789	0.376474827528	0.21755	T	0.013996	0.11998	T	-0.281293	0.10530	T	-0.461538	0.26431	T	0.26352260534633	0.23468	T	0.759324	0.38363	T	0.048985716	0.08626	0.035840947	0.02913	0.048985716	0.08626	0.035840947	0.02912	-5.146	0.38388	T	.	.	0.090	0.13550	B	.;.;.	.;.;.	4.595151	0.72728	25.9	0.99925650972687041	0.99042	0.69294	0.34131	D	AEFDGBI	0.145703	0.26897	N	0.286739315984829	0.55474	3.711615	0.338532262880995	0.57818	3.94926	0.983466594671019	0.30563	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.34	3.45	0.38602	1.441000	0.34645	3.454000	0.38467	0.599000	0.40250	0.959000	0.33545	1.000000	0.68203	0.936000	0.47498	0.1312:0.5109:0.2671:0.0908	3.946	0.08845	376	0.83959	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1212.46	35	chr6	42864976	.	C	T	1212.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.04;DP=269;ExcessHet=0;FS=4.111;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=0.921;SOR=1.176	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	6	0	1	0
chr6	43205063	43205063	G	A	exonic	CUL9	.	nonsynonymous SNV	CUL9:NM_015089:exon23:c.G4580A:p.R1527H	.	240	1276	6	0	0	6	0.00234558	.	.	.	2373351	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.156	0.0247017443658	7.7e-05	0.000399361	0.0001	9.658e-05	0.0002	0	0	7.569e-05	0	0.0005	0.0001164	18	154602	rs371127607	7.414e-05	7.661e-05	4.915e-05	9.941e-05	0.0009	6.27e-05	5.828e-05	0.0005	0.0004	0.0002	0	3.845e-05	0	1.931e-05	0.0009	3.334e-05	0.0001	0.0006	9.19e-05	9.186e-05	7.707e-05	0.0001	0.0006	5.523e-05	4.361e-05	0.0002	8.996e-05	0.0001	0	6.533e-05	0	0	0	0	5.88e-05	0	0.0006	0.092	0.31682	T	0.068	0.44302	T	0.008	0.14655	B	0.036	0.22909	B	0.001335	0.39379	N	0.282258	0.970404	0.38796	D	0.895	0.22405	L	-0.83	0.74159	T	-2.12	0.48184	N	0.345	0.38746	-0.9327	0.43740	T	0.146	0.47111	T	10	0.07188931	0.10658	T	0.024702	0.47687	T	0.156	0.40720	.	.	0.419839959566	0.41604	0.29277827948716556	0.29190	0.473772204967	0.46581	0.327171325684	0.14507	T	0.295564	0.66822	T	-0.326142	0.06407	T	-0.340957	0.40235	T	0.0612367096324267	0.07361	T	0.851115	0.54791	D	0.048482187	0.08456	0.05386354	0.09154	0.048482187	0.08456	0.05386354	0.09153	-8.309	0.63156	D	.	.	0.076	0.05935	B	.;.	.;.	2.208098	0.28167	17.71	0.98608747785377759	0.43611	0.95281	0.64114	D	AEFBI	0.388348	0.46799	N	-0.362552532685557	0.26814	1.466311	-0.23078393712651	0.30440	1.713871	0.961530654618586	0.28561	0.634777	0.41761	0	0.643519	0.57511	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.35	2.55	0.29757	3.352000	0.51954	-2.127000	0.04173	-0.119000	0.14319	1.000000	0.71638	0.000000	0.08366	0.977000	0.56843	0.2159:0.1341:0.6499:0.0	6.184	0.19700	364	0.84707	Cullin, N-terminal;Cullin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	573.45	37	chr6	43205063	.	G	A	573.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.66;DP=233;ExcessHet=0;FS=6.422;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=2.56;SOR=1.696	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1202	6	0	1	0
chr6	43206209	43206209	G	A	exonic	CUL9	.	nonsynonymous SNV	CUL9:NM_015089:exon25:c.G4996A:p.E1666K	.	9	1512	1	0	0	1	0.000330579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.0274959153825	.	.	1.807e-05	0	0	0	0	3.294e-05	0	0	1.29e-05	2	154602	rs759376276	9.591e-06	9.577e-06	1.227e-05	6.886e-06	2.989e-05	5.57e-06	4.35e-06	5.31e-06	3.88e-06	2.989e-05	2.264e-05	0	0	0	0	9.9e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	0.181	0.29346	T	0.324	0.33106	B	0.224	0.37970	B	0.003827	0.34438	N	0.322722	0.570149	0.37328	D	2.645	0.77386	M	-0.87	0.74583	T	-1.58	0.38151	N	0.268	0.35088	-0.3014	0.74946	T	0.284	0.65557	T	10	0.2113865	0.37564	T	0.027496	0.50302	D	0.295	0.61502	0.394	0.41935	0.567972730129	0.56463	0.4679743852148886	0.46716	0.374976833314	0.38952	0.388636350632	0.23478	T	0.294735	0.66742	T	0.0283461	0.55502	T	-0.176788	0.56820	T	0.721795499324799	0.41790	D	0.826617	0.49005	T	0.15595017	0.35218	0.15854922	0.37021	0.15595017	0.35218	0.15854922	0.37020	-5.421	0.41121	T	.	.	0.086	0.10787	B	.;.	.;.	2.803045	0.36877	20.4	0.99858402013327119	0.93729	0.93084	0.57286	D	AEFBI	0.232162	0.35528	N	0.262323761666127	0.54252	3.591167	0.330192840312283	0.57320	3.89742	0.999994454205537	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.616094	0.41390	0	0.635551	0.53088	0	.	.	5.23	5.23	0.72570	3.177000	0.50572	8.644000	0.77906	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.718000	0.34707	0.0:0.0:1.0:0.0	18.790	0.91935	364	0.84707	Cullin, N-terminal|Cullin homology domain;Cullin, N-terminal|Cullin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	535.53	20	chr6	43206209	.	G	A	535.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.648;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=0.829;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1048	6	0	1	0
chr6	43433148	43433148	C	G	exonic	ABCC10	.	nonsynonymous SNV	ABCC10:NM_033450:exon1:c.C1039G:p.R347G,ABCC10:NM_001198934:exon3:c.C1168G:p.R390G	.	.	.	.	.	.	.	.	.	.	.	2438659	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.904	0.195967073657	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs528202255	5.473e-06	5.472e-06	2.723e-06	8.251e-06	2.987e-05	2.35e-06	1.7e-06	1.32e-06	9.6e-07	2.987e-05	0	0	0	0	0	4.497e-06	3.312e-05	0	1.971e-05	1.97e-05	1.284e-05	2.689e-05	4.824e-05	5.24e-06	2.45e-06	7.99e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.986	0.88582	D	0.000004	0.62929	D	0.061096	1	0.81001	D	3.77	0.95173	H	-2.53	0.89430	D	-6.4	0.91184	D	0.939	0.94550	0.931	0.96119	D	0.847	0.94898	D	10	0.90272355	0.89635	D	0.195967	0.86452	D	0.904	0.97361	0.672	0.81002	0.954082268687	0.95359	0.8315173011152087	0.83110	0.777272365616	0.65101	0.673156261444	0.63287	T	0.602987	0.87303	D	0.427709	0.91416	D	0.392084	0.91851	D	0.989217877388	0.79464	D	0.829717	0.49530	T	0.8346772	0.86230	0.83912015	0.90780	0.8346772	0.86231	0.83912015	0.90780	-10.453	0.78812	D	.	.	0.586	0.68297	P	.;.	.;.	3.669057	0.52162	23.2	0.99883224464875275	0.95892	0.95635	0.65514	D	AEFBI	0.729005	0.67685	D	0.706363834267408	0.80049	7.209071	0.599956574427507	0.74938	6.223	0.999999942641211	0.74766	0.617157	0.39670	1	0.577304	0.33150	0	0.786243	0.99158	0	0.635551	0.53088	0	.	.	5.37	4.48	0.53973	2.728000	0.46990	1.237000	0.25081	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.3031:0.6969:0.0:0.0	13.749	0.62381	500	0.76024	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	276.44	37	chr6	43433148	.	C	G	276.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.693;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.26;ReadPosRankSum=1.76;SOR=0.836	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1183	6	0	1	0
chr6	43501620	43501620	G	A	exonic	TJAP1	.	nonsynonymous SNV	TJAP1:NM_001146017:exon5:c.G223A:p.D75N,TJAP1:NM_001146020:exon5:c.G223A:p.D75N,TJAP1:NM_001350564:exon5:c.G223A:p.D75N,TJAP1:NM_001350566:exon5:c.G223A:p.D75N,TJAP1:NM_001350568:exon5:c.G223A:p.D75N,TJAP1:NM_001146016:exon6:c.G223A:p.D75N,TJAP1:NM_001146019:exon6:c.G223A:p.D75N,TJAP1:NM_001350562:exon6:c.G223A:p.D75N,TJAP1:NM_001350563:exon6:c.G223A:p.D75N,TJAP1:NM_001350565:exon6:c.G223A:p.D75N,TJAP1:NM_001350567:exon6:c.G223A:p.D75N,TJAP1:NM_001350569:exon6:c.G223A:p.D75N,TJAP1:NM_080604:exon6:c.G223A:p.D75N,TJAP1:NM_001146018:exon7:c.G223A:p.D75N,TJAP1:NM_001350561:exon7:c.G223A:p.D75N,TJAP1:NM_001350570:exon7:c.G223A:p.D75N	.	430	1072	17	3	0	23	0.0106138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	.	0.0060	0.00299521	0.0064	0.0015	0.0058	0	0.0112	0.0080	0.0101	0.0050	0.0061772	955	154602	rs146174516	0.0065	0.0065	0.0064	0.0066	0.0093	0.0064	0.0063	0.0073	0.0066	0.0013	0.0053	0.0157	2.52e-05	0.0099	0.0093	0.0066	0.0069	0.0056	0.0058	0.0058	0.0057	0.0059	0.0080	0.0054	0.0053	0.0075	0.0072	0.0013	0	0.0051	0.0150	0	0.0107	0.0068	0.0080	0.0043	0.0048	0.079	0.51853	T	0.539	0.11041	T	0.986	0.61523	D	0.84	0.60170	P	0.001836	0.37892	N	0.260277	0.922746	0.36726	D	1.355	0.33814	L	-1.21	0.78645	T	-0.07	0.11913	N	0.649	0.67304	-0.8013	0.55068	T	0.194	0.54681	T	10	0.0064109266	0.00145	T	.	.	.	0.283	0.60100	.	.	0.84447348625	0.84298	0.14216253384610422	0.14139	0.563213150992	0.52764	0.744480013847	0.73632	T	0.045408	0.27114	T	-0.437271	0.01342	T	-0.393637	0.34127	T	0.0270910500318395	0.01557	T	0.929107	0.73907	D	0.10933551	0.25849	0.09088635	0.21339	0.10933551	0.25849	0.09088635	0.21339	-9.229	0.71145	D	.	.	0.265	0.55916	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.879583	0.80008	27.2	0.998856845130766	0.96126	0.99095	0.91152	D	AEFDBI	0.695007	0.65382	D	0.331883087932109	0.57792	3.948008	0.39220626317631	0.61083	4.303665	0.999999087670254	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.85	4.85	0.62375	5.603000	0.67304	7.361000	0.58346	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	16.225	0.82105	227	0.91186	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.020202	0.012228	0.002924	0.000000	0.000000	0.012195	0.000000	0.07143	1141.44	34	chr6	43501620	.	G	A	1141.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.842;DP=288;ExcessHet=0;FS=0.72;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-0.01;SOR=0.773	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr6	44229406	44229406	C	T	exonic	SLC29A1	.	nonsynonymous SNV	SLC29A1:NM_001304465:exon3:c.C124T:p.L42F,SLC29A1:NM_001304466:exon3:c.C121T:p.L41F,SLC29A1:NM_001372327:exon3:c.C46T:p.L16F,SLC29A1:NM_001078175:exon4:c.C46T:p.L16F,SLC29A1:NM_001078177:exon4:c.C46T:p.L16F,SLC29A1:NM_001304462:exon4:c.C283T:p.L95F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0270842663741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.20835	T	0.239	0.24477	T	0.722	0.42387	P	0.21	0.37304	B	0.000291	0.46274	D	0.141721	0.992018	0.41532	D	1.12	0.28775	L	-0.64	0.72125	T	-1.54	0.37375	N	0.57	0.59563	-0.8125	0.54399	T	0.190	0.54108	T	10	0.2805399	0.45630	T	0.027084	0.49938	D	0.199	0.48268	.	.	0.289027227714	0.28505	.	.	0.314550106018	0.33734	0.57654607296	0.49599	T	0.247412	0.61705	T	-0.0159197	0.49434	T	-0.260644	0.48761	T	0.780354142189026	0.45072	D	0.80002	0.44873	T	0.25879025	0.48930	0.16195175	0.37644	0.25879025	0.48930	0.16195175	0.37643	-6.311	0.48809	T	0.2968931265094968	0.39397	0.101	0.35477	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.476885	0.48538	22.6	0.99733818646622996	0.82975	0.86155	0.45383	D	AEFBI	0.483729	0.52405	N	0.104427770763267	0.46670	2.903757	0.164691005738116	0.47925	3.015602	0.999980561748904	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	4.45	0.53365	1.246000	0.32405	1.800000	0.28874	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1479:0.7746:0.0:0.0775	8.891	0.34594	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	261.05	56	chr6	44229406	.	C	T	261.05	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.601;DP=506;ExcessHet=6.1542;FS=331.328;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=0.67;SOR=8.138	GT:AD:DP:GQ:PL	0/1:73,32:105:39:39,0,1245	1	0	5	1
chr6	44229912	44229912	C	T	exonic	SLC29A1	.	nonsynonymous SNV	SLC29A1:NM_001304465:exon5:c.C398T:p.P133L,SLC29A1:NM_001304466:exon5:c.C395T:p.P132L,SLC29A1:NM_001372327:exon5:c.C320T:p.P107L,SLC29A1:NM_001078175:exon6:c.C320T:p.P107L,SLC29A1:NM_001078177:exon6:c.C320T:p.P107L,SLC29A1:NM_001304462:exon6:c.C557T:p.P186L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597	0.142466590804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.006	0.70582	D	0.954	0.54400	P	0.548	0.49136	P	0.000006	0.62929	D	0.111619	0.999999	0.58761	D	2.77	0.80896	M	-1.45	0.80899	T	-4.12	0.75058	D	0.594	0.62273	0.338	0.88157	D	0.626	0.86862	D	10	0.84711623	0.83879	D	0.142467	0.82485	D	0.597	0.84019	.	.	0.5677965709	0.56444	.	.	0.621881511677	0.56471	0.499117910862	0.38704	T	0.618786	0.88021	D	0.137672	0.68103	D	-0.0400197	0.67700	D	0.986289262771606	0.77042	D	0.974802	0.91047	D	0.37740412	0.59128	0.29288265	0.55316	0.37740412	0.59128	0.29288265	0.55315	-8.857	0.66771	D	0.7226939578687511	0.80388	0.195	0.46470	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.942726	0.81587	27.6	0.9984483448626742	0.92489	0.98720	0.85993	D	AEFBI	0.945080	0.95294	D	0.660674630883975	0.77061	6.602799	0.611913254807427	0.75802	6.37577	0.99999999997349	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	7.253000	0.77742	7.702000	0.66341	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.642000	0.32476	0.0:0.8595:0.1405:0.0	15.178	0.72611	789	0.46346	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	670.27	35	chr6	44229912	.	C	T	670.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.117;DP=237;ExcessHet=0;FS=1.174;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=-0.409;SOR=0.483	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	1
chr6	44276159	44276159	A	C	exonic	TMEM151B	.	nonsynonymous SNV	TMEM151B:NM_001137560:exon3:c.A1333C:p.I445L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.356119215711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.603	0.05584	T	0.918	0.02891	T	0.012	0.16265	B	0.018	0.18489	B	0.000258	0.46924	D	0.173717	0.997515	0.81001	D	1.14	0.29013	L	.	.	.	0.09	0.05917	N	0.429	0.46835	-1.0510	0.14119	T	0.065	0.26983	T	9	0.16996357	0.31632	T	0.356119	0.92394	D	0.243	0.54921	0.113	0.02240	0.0954503805726	0.09146	0.30910439168479603	0.30823	.	.	0.97451877594	0.99991	D	0.004165	0.03571	T	0.0262202	0.55219	T	-0.200113	0.54636	T	0.98872184753418	0.79021	D	0.79872	0.44372	T	0.14567277	0.33381	0.08761994	0.20378	0.14567277	0.33381	0.08761994	0.20377	-1.727	0.02301	T	.	.	0.432	0.61275	A	.	.	2.845699	0.37553	20.5	0.90168655020142274	0.19446	0.96151	0.67766	D	AEFDBHCIJ	0.737594	0.68274	D	-0.213033235757761	0.32598	1.840137	-0.0412149172125383	0.37872	2.22345	0.99999999894989	0.74766	0.700653	0.57754	0	0.59043	0.45803	0	0.717052	0.78885	0	0.554799	0.18163	0	.	.	4.18	4.18	0.48473	6.476000	0.73497	10.396000	0.83319	0.620000	0.51751	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	13.417	0.60423	593	0.68665	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	283.63	21	chr6	44276159	.	A	C	283.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.513;DP=147;ExcessHet=0;FS=1.74;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=1.21;SOR=0.905	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,1009	6	0	1	0
chr6	45941619	45941619	T	C	exonic	CLIC5	.	nonsynonymous SNV	CLIC5:NM_001114086:exon4:c.A811G:p.N271D,CLIC5:NM_001256023:exon4:c.A334G:p.N112D,CLIC5:NM_001370649:exon4:c.A217G:p.N73D,CLIC5:NM_016929:exon4:c.A334G:p.N112D,CLIC5:NM_001370650:exon5:c.A811G:p.N271D	.	431	1086	5	0	0	5	0.00229674	.	.	.	539001	not_provided|CLIC5-related_disorder|Autosomal_recessive_nonsyndromic_hearing_loss_103	MedGen:C3661900|.|MONDO:MONDO:0014469,MedGen:C4015050,OMIM:616042,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.575	0.277535312664	.	0.00159744	0.0008	0	0.0003	0	0	0.0001	0	0.0049	0.0006533	101	154602	rs564438778	0.0004	0.0004	0.0002	0.0005	0.0051	0.0004	0.0004	0.0047	0.0045	2.987e-05	4.472e-05	0	0	0	0.0014	9.083e-05	0.0003	0.0051	0.0002	0.0002	0.0003	0.0002	0.0050	0.0002	0.0002	0.0034	0.0029	0	0	6.538e-05	0	0	0	0	0.0002	0	0.0050	0.041	0.41915	D	0.041	0.50514	D	0.076	0.24253	B	0.054	0.25828	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.945	0.84822	M	-3.22	0.93352	D	-4.58	0.78807	D	0.865	0.91162	0.415	0.89329	D	0.713	0.90148	D	10	0.01323691	0.00282	T	0.277535	0.90111	D	0.575	0.82799	.	.	0.966479415667	0.96611	0.908536658755391	0.90826	0.298502774148	0.32228	0.668010175228	0.62554	T	0.360909	0.72708	T	-0.164171	0.26120	T	-0.00764334	0.69838	D	0.14394016691814	0.16610	T	0.909209	0.68064	D	0.83107215	0.85977	0.68651754	0.81565	0.83107215	0.85978	0.68651754	0.81566	-10.971	0.81038	D	0.6682814794046622	0.74284	0.638	0.76805	P	.;.;.;.;.	.;.;.;.;.	4.086413	0.60831	24.3	0.99576763852848771	0.72742	0.97579	0.75677	D	AEFBI	0.961051	0.98212	D	0.175674627797205	0.50034	3.197329	0.284225795363938	0.54617	3.62626	0.999991418476479	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.44	5.44	0.79348	6.208000	0.72099	7.844000	0.70656	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	14.491	0.67230	867	0.32089	.;Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001521	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.08333	615.27	32	chr6	45941619	.	T	C	615.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.82;DP=266;ExcessHet=0;FS=1.824;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.15;ReadPosRankSum=-1.364;SOR=0.507	GT:AD:DP:GQ:PL	0/1:56,30:86:99:625,0,1261	5	0	1	1
chr6	46168058	46168058	T	C	exonic	ENPP5	.	nonsynonymous SNV	ENPP5:NM_021572:exon2:c.A205G:p.I69V,ENPP5:NM_001290072:exon3:c.A205G:p.I69V	.	434	1052	34	2	0	38	0.0177404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0067	0.00199681	0.0060	0.0014	0.0028	0	0.0095	0.0080	0.0188	0.0038	0.0057438	888	154602	rs34432940	0.0064	0.0064	0.0064	0.0064	0.0120	0.0063	0.0062	0.0097	0.0089	0.0009	0.0033	0.0203	0	0.0083	0.0120	0.0066	0.0069	0.0043	0.0054	0.0053	0.0052	0.0055	0.0067	0.0050	0.0049	0.0062	0.0060	0.0010	0.0822	0.0034	0.0159	0	0.0084	0.0068	0.0067	0.0076	0.0054	0.126	0.27194	T	0.262	0.22895	T	0.035	0.20614	B	0.05	0.25278	B	0.000000	0.84330	D	0.050250	0.865251	0.35461	D	0.505	0.13445	N	-0.63	0.72011	T	-0.4	0.13805	N	0.109	0.14338	-1.0707	0.09260	T	0.084	0.32986	T	10	0.012347043	0.00266	T	.	.	.	0.064	0.18567	.	.	0.414539908741	0.41071	0.7343181863062871	0.73376	0.18094129058	0.20352	0.522546648979	0.41984	T	0.020387	0.16063	T	-0.460545	0.00976	T	-0.430452	0.29884	T	0.00810857899410531	0.00097	T	0.870113	0.57479	D	0.18285523	0.39524	0.082540125	0.18846	0.18285523	0.39524	0.082540125	0.18846	-3.053	0.10763	T	.	.	0.090	0.12465	B	.;.	.;.	2.384533	0.30617	18.49	0.97518443837251167	0.34389	0.88442	0.48372	D	AEFBI	0.347263	0.44180	N	-0.328549877010341	0.28068	1.545102	-0.147359051158791	0.33510	1.917597	0.00111298835938549	0.08239	0.651	0.46895	0	0.59043	0.45803	0	0.65145	0.50148	0	0.542086	0.14980	0	.	.	5.51	3.07	0.34476	2.590000	0.45819	2.848000	0.35122	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1187:0.1209:0.7604	8.028	0.29609	825	0.40060	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.010101	0.013587	0.002924	0.000000	0.025862	0.021341	0.018939	0.07143	720.63	40	chr6	46168058	.	T	C	720.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.972;DP=277;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-1.132;SOR=0.656	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1142	6	0	1	0
chr6	46688798	46688798	G	A	exonic	TDRD6	.	nonsynonymous SNV	TDRD6:NM_001010870:exon1:c.G670A:p.V224I,TDRD6:NM_001168359:exon1:c.G670A:p.V224I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00319981183319	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1238525802	2.056e-06	2.052e-06	1.364e-06	2.755e-06	2.519e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	2.519e-05	0	0	1.799e-06	0	0	6.569e-06	6.566e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.424	0.10212	T	0.017	0.60337	D	0.255	0.31319	B	0.023	0.19966	B	0.519525	0.05194	N	1.327380	1	0.08975	N	1.15	0.29295	L	2.5	0.14408	T	-0.15	0.09297	N	0.028	0.01068	-0.9248	0.44886	T	0.009	0.03271	T	10	0.08951548	0.15512	T	0.003	0.07026	T	0.054	0.15330	0.385	0.40460	0.337135696972	0.33324	0.1370022793540823	0.13624	0.0259765826965	0.02653	0.337410897017	0.16050	T	0.026739	0.19723	T	-0.429177	0.01499	T	-0.854259	0.00908	T	0.0645290188541009	0.07862	T	0.490951	0.15096	T	0.023350459	0.01069	0.028559724	0.01103	0.023350459	0.01068	0.028559724	0.01103	-4.578	0.31894	T	.	.	0.083	0.09288	B	.;.	.;.	-0.366645	0.02340	0.252	0.81920073476731214	0.13927	0.33677	0.24886	N	AEFDBI	0.107282	0.21379	N	-0.834284100881299	0.12440	0.6063865	-0.839524854885157	0.13539	0.7029298	0.00606267996746944	0.11119	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.63	2.9	0.32809	-0.363000	0.07645	-0.021000	0.12925	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1903:0.0:0.8097:0.0	11.124	0.47529	508	0.75398	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1418.27	35	chr6	46688798	.	G	A	1418.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.406;DP=288;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-0.42;SOR=0.729	GT:AD:DP:GQ:PL	0/1:50,55:105:99:1428,0,1289	5	0	1	1
chr6	46835422	46835422	C	T	exonic	MEP1A	.	nonsynonymous SNV	MEP1A:NM_005588:exon13:c.C1957T:p.R653W	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.0613074972728	.	.	2.855e-05	0	9.984e-05	0	0	1.716e-05	0	6.89e-05	1.94e-05	3	154602	rs754938190	1.85e-05	1.847e-05	2.181e-05	1.515e-05	3.497e-05	1.267e-05	1.086e-05	1.296e-05	1.107e-05	0	2.25e-05	0	2.522e-05	0	0	1.98e-05	0	3.497e-05	3.285e-05	3.283e-05	3.853e-05	2.69e-05	7.235e-05	1.261e-05	7.98e-06	1.918e-05	1.032e-05	7.235e-05	0	6.546e-05	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.88582	D	0.013044	0.28968	N	0.411067	0.999118	0.46101	D	0	0.06538	N	1.6	0.28604	T	-2.9	0.60827	D	0.722	0.72388	-0.9620	0.38800	T	0.112	0.40122	T	10	0.62965584	0.68443	D	0.061307	0.68287	D	0.229	0.52916	0.341	0.33302	0.609393688558	0.60625	0.4858937923288893	0.48509	0.529786557781	0.50535	0.442076921463	0.30861	T	0.433634	0.78100	T	-0.0592793	0.43022	T	-0.222297	0.52516	T	0.736045126062897	0.42526	D	0.90061	0.65471	D	0.11959589	0.28157	0.1363861	0.32628	0.11959589	0.28157	0.1363861	0.32627	-9.04	0.67955	D	.	.	0.204	0.44293	B	.;.	.;.	4.922378	0.81085	27.5	0.99904493613411383	0.97576	0.76045	0.37268	D	AEFBI	0.482506	0.52334	N	0.488767793925981	0.66431	4.94945	0.405934804366923	0.61932	4.400701	0.0011297815247058	0.08250	0.525926	0.21836	0	0.59043	0.45803	0	0.615948	0.41167	0	0.542086	0.14980	0	.	.	5.43	4.51	0.54589	1.377000	0.33923	2.052000	0.30351	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.200000	0.21896	0.2692:0.6421:0.0:0.0887	6.398	0.20825	618	0.66225	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1409.44	103	chr6	46835422	.	C	T	1409.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.789;DP=330;ExcessHet=0;FS=3.658;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=0.987;SOR=0.424	GT:AD:DP:GQ:PL	0/0:73,0:73:99:0,120,1800	6	0	1	0
chr6	47580870	47580870	A	G	exonic	CD2AP	.	nonsynonymous SNV	CD2AP:NM_012120:exon10:c.A1015G:p.K339E	Glomerulosclerosis, focal segmental, 3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0212358317057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.004	0.74150	D	0.998	0.73220	D	0.973	0.72923	D	0.000017	0.62929	D	0.000000	0.999993	0.58761	D	3.205	0.89189	M	1.58	0.29085	T	-2.62	0.56301	D	0.502	0.53445	-0.8907	0.48873	T	0.123	0.42483	T	10	0.48073685	0.60415	T	0.021236	0.43978	T	0.199	0.48268	0.374	0.38667	0.643731182071	0.64078	0.3532681956058667	0.35240	0.482003060789	0.47171	0.559849858284	0.47247	T	0.424326	0.77479	T	-0.0102229	0.50235	T	-0.252461	0.49573	T	0.986831426620483	0.77457	D	0.829117	0.49388	T	0.38676724	0.59801	0.33913404	0.59682	0.38676724	0.59802	0.33913404	0.59681	-13.441	0.91098	D	0.6190578132976476	0.68726	0.704	0.73132	P	.	.	4.965491	0.82135	27.7	0.99873536381455275	0.95076	0.98548	0.83964	D	AEFBI	0.611084	0.59966	D	0.64833327306981	0.76262	6.453896	0.627884022154458	0.76972	6.590747	0.993065801957702	0.33071	0.732398	0.92422	0	0.708844	0.79440	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.42	5.42	0.78666	6.091000	0.71052	9.240000	0.79416	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	14.576	0.67846	447	0.79583	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	537.63	30	chr6	47580870	.	A	G	537.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.212;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=0.072;SOR=0.655	GT:AD:DP:GQ:PL	0/1:31,26:57:99:548,0,647	6	0	1	0
chr6	47879663	47879663	C	T	exonic	PTCHD4	.	nonsynonymous SNV	PTCHD4:NM_001013732:exon3:c.G1181A:p.G394D,PTCHD4:NM_001384253:exon5:c.G1172A:p.G391D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.902	0.20782976184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	-2.01	0.85468	D	-6.51	0.91653	D	0.955	0.96416	0.499	0.90534	D	0.729	0.90740	D	10	0.91200733	0.90566	D	0.20783	0.87114	D	0.902	0.97286	0.69	0.82748	0.930885548319	0.93018	0.8829038473598709	0.88258	0.577604299883	0.53677	0.935613512993	0.99274	D	0.661584	0.89851	D	0.424157	0.91233	D	0.371496	0.91125	D	0.995816051959991	0.88121	D	0.928907	0.73860	D	0.94604033	0.95862	0.92165154	0.96514	0.94604033	0.95863	0.92165154	0.96515	-8.032	0.61288	D	.	.	0.992	0.94095	P	.	.	4.794884	0.77846	26.8	0.99740766051118668	0.83482	0.98112	0.79700	D	AEFBI	0.908094	0.86294	D	0.815943854686388	0.87093	9.100482	0.770524736938804	0.87681	9.306754	0.999999971639541	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.01	5.01	0.66477	7.568000	0.81546	7.728000	0.67649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.332	0.90215	666	0.61362	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	52.44	46	chr6	47879663	.	C	T	52.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.383;DP=792;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.83;ReadPosRankSum=-1.085;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:185,0:185:99:.:.:0,120,1800:.	6	0	1	0
chr6	49698387	49698387	T	C	exonic	CRISP2	.	nonsynonymous SNV	CRISP2:NM_001142407:exon6:c.A392G:p.N131S,CRISP2:NM_001142435:exon6:c.A392G:p.N131S,CRISP2:NM_001261822:exon6:c.A392G:p.N131S,CRISP2:NM_001142408:exon7:c.A392G:p.N131S,CRISP2:NM_001142417:exon7:c.A392G:p.N131S,CRISP2:NM_003296:exon7:c.A392G:p.N131S	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	0.0078	0.00698882	0.0023	0.0242	0.0013	0	0	7.503e-05	0.0011	0	0.002141	331	154602	rs34457011	0.0007	0.0007	0.0008	0.0006	0.0248	0.0007	0.0007	0.0234	0.0228	0.0248	0.0016	0	0	0	0.0014	5.578e-05	0.0015	2.322e-05	0.0069	0.0069	0.0072	0.0066	0.0237	0.0066	0.0064	0.0225	0.0220	0.0237	0	0.0032	0	0.0002	0	0	5.881e-05	0.0057	0	0.124	0.27426	T	0.182	0.31326	T	0.041	0.21357	B	0.038	0.23361	B	0.965097	0.08197	N	0.986209	1	0.08975	N	1.455	0.36767	L	2.96	0.09542	T	-2.09	0.47683	N	0.081	0.05670	-0.9105	0.46793	T	0.007	0.02360	T	10	0.004146248	0.00082	T	.	.	.	0.012	0.01476	.	.	0.18995819373	0.18626	0.23190623093314208	0.23105	0.0173074127301	0.01682	0.23190382123	0.02112	T	0.009038	0.08254	T	-0.779173	0.00011	T	-0.87308	0.00714	T	0.00776685539843435	0.00091	T	0.480552	0.14510	T	0.06275846	0.13143	0.048114154	0.07077	0.06275846	0.13143	0.048114154	0.07076	-5.874	0.47558	T	.	.	0.075	0.05623	B	.;.;.	.;.;.	-1.175685	0.00556	0.013	0.51030310289204861	0.04489	0.03331	0.08406	N	AEFBHCI	0.038302	0.05399	N	-1.23145624014831	0.04550	0.2055746	-1.27803710207892	0.04728	0.2237188	7.03381154734825E-4	0.07666	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.26	-1.44	0.08391	-1.357000	0.02714	-8.463000	0.00965	-0.684000	0.04190	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3052:0.282:0.4128	5.027	0.13734	793	0.45818	CAP domain|CAP domain|Cysteine-rich secretory protein, SCP domain;.;CAP domain|CAP domain|Cysteine-rich secretory protein, SCP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.010101	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	144.44	33	chr6	49698387	.	T	C	144.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.124;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=1.03;SOR=0.754	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1321	6	0	1	0
chr6	52282072	52282072	A	C	exonic	MCM3	.	nonsynonymous SNV	MCM3:NM_001270472:exon3:c.T366G:p.F122L,MCM3:NM_001366369:exon4:c.T504G:p.F168L,MCM3:NM_001366370:exon4:c.T504G:p.F168L,MCM3:NM_001366371:exon4:c.T504G:p.F168L,MCM3:NM_001366372:exon4:c.T504G:p.F168L,MCM3:NM_001366375:exon4:c.T504G:p.F168L,MCM3:NM_002388:exon4:c.T504G:p.F168L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.0173501740393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.657	0.04742	T	0.74	0.04982	T	0.058	0.22967	B	0.023	0.19966	B	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	0.95	0.23787	L	3.71	0.04046	T	-2.47	0.53898	N	0.852	0.90476	-0.9873	0.33273	T	0.004	0.01400	T	10	0.38849932	0.54718	T	0.01735	0.39013	T	0.201	0.48592	0.309	0.28128	0.322786055943	0.31880	0.5137175339944182	0.51293	0.222960362883	0.24822	0.810539126396	0.83575	D	0.338891	0.70811	T	-0.0252247	0.48107	T	-0.27401	0.47414	T	0.652147591114044	0.38554	D	0.851615	0.58433	D	0.49420336	0.66753	0.27977744	0.53948	0.49420336	0.66754	0.27977744	0.53947	-7.571	0.58108	D	.	.	0.896	0.82474	P	.;.;.;.	.;.;.;.	3.290573	0.45128	22.1	0.908896347003603	0.20138	0.85888	0.45074	D	AEFBCI	0.485306	0.52495	N	-0.343237245594559	0.27522	1.510627	-0.176338283858057	0.32408	1.843537	0.999924006811314	0.46280	0.706548	0.73137	0	0.581341	0.33841	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.69	3.36	0.37579	2.588000	0.45802	2.956000	0.35735	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.7634:0.0:0.2366:0.0	8.182	0.30476	593	0.68665	MCM OB domain;.;.;MCM OB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	778.44	36	chr6	52282072	.	A	C	778.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.927;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.65;ReadPosRankSum=0.029;SOR=0.622	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1163	6	0	1	0
chr6	52403967	52403967	A	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.A754G:p.I252V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00527960526329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.978e-05	0.0024	1.833e-05	2.124e-05	2.524e-05	1.372e-05	1.181e-05	1.728e-05	1.481e-05	0	2.239e-05	0	0	0	0	2.524e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.041	0.23986	B	0.000025	0.55875	D	0.115163	0.999832	0.49637	D	.	.	.	1.69	0.27032	T	0.18	0.05035	N	0.134	0.13055	-1.0252	0.22017	T	0.018	0.07518	T	9	0.10744271	0.19958	T	0.00528	0.13494	T	0.060	0.17295	0.488	0.57257	0.376393476264	0.37247	0.3401186203858187	0.33924	0.3389385424	0.35853	0.68097782135	0.64409	T	0.052677	0.29229	T	-0.214048	0.18812	T	-0.545242	0.17786	T	0.904308378696442	0.55774	D	0.813919	0.46746	T	0.07455341	0.16739	0.0980514	0.23362	0.07455341	0.16739	0.0980514	0.23362	-3.487	0.16251	T	.	.	0.198	0.42111	B	.;.	.;.	2.178607	0.27765	17.57	0.81419057112976168	0.13676	0.59864	0.31033	D	ALL	0.196894	0.32384	N	-0.163518393347399	0.34660	1.981109	0.0656923634619325	0.42836	2.598076	0.999999999628226	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	5.64	0.86480	4.094000	0.57448	11.121000	0.86550	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.038	0.71424	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	968.74	97	chr6	52403967	.	A	G	968.74	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.58;DP=835;ExcessHet=1.1394;FS=134.601;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.66;ReadPosRankSum=1.7;SOR=9.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,26:210:99:0|1:52403967_A_G:155,0,6996:52403967	2	0	3	2
chr6	52403970	52403970	C	T	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.C757T:p.L253F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00630749574742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.19361	T	0.098	0.39040	T	0.002	0.09854	B	0.03	0.21741	B	0.156625	0.17794	N	0.568363	0.978788	0.25225	N	.	.	.	1.35	0.34648	T	-1.54	0.37375	N	0.043	0.01740	-0.9995	0.30058	T	0.022	0.09421	T	9	0.07588753	0.11786	T	0.006307	0.16580	T	0.056	0.15993	0.404	0.43573	0.258283824007	0.25425	0.4649470711667506	0.46413	0.41020588675	0.41812	0.385233283043	0.22995	T	0.083781	0.37132	T	-0.242974	0.14973	T	-0.586792	0.13944	T	0.131729736924171	0.15541	T	0.726327	0.34071	T	0.0702468	0.15457	0.08061282	0.18250	0.0702468	0.15456	0.08061282	0.18250	-4.121	0.25599	T	.	.	0.102	0.17911	B	.;.	.;.	1.645479	0.20997	15.00	0.98230747167124433	0.39387	0.23460	0.22083	N	ALL	0.166227	0.29279	N	-0.569512802825605	0.19875	1.043656	-0.505190822221499	0.22012	1.193515	0.999999888871553	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	0.156	0.14205	0.857000	0.27486	0.414000	0.18144	0.599000	0.40250	0.560000	0.27425	0.980000	0.30356	0.998000	0.85391	0.207:0.4109:0.2345:0.1476	2.509	0.04369	718	0.55760	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	477.85	92	chr6	52403970	.	C	T	477.85	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-5.226;DP=629;ExcessHet=0.3476;FS=208.652;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.33;ReadPosRankSum=2.02;SOR=7.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,26:210:99:0|1:52403967_A_G:155,0,6996:52403967	4	0	2	1
chr6	52506129	52506205	GGCTCAGGCTGGGGGTGGGGAAGACTAGACTTACATTCCCTCCAAGATGCTGCGTGGAGCAGAAGCCATTGCATCTT	-	exonic	TRAM2	.	frameshift deletion	TRAM2:NM_012288:exon8:c.627_634del:p.N209Kfs*14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	62.4	33	chr6	52506128	.	CGGCTCAGGCTGGGGGTGGGGAAGACTAGACTTACATTCCCTCCAAGATGCTGCGTGGAGCAGAAGCCATTGCATCTT	C	62.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.65;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=0.524;SOR=0.223	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1144	6	0	1	0
chr6	52794262	52794262	-	A	exonic	GSTA1	.	stopgain	GSTA1:NM_145740:exon5:c.276dupT:p.D93*	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.272e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs769646484	4.115e-06	4.104e-06	1.364e-06	6.894e-06	1.169e-05	1.48e-06	9.7e-07	.	.	0	0	0	0	0	0	9.007e-07	6.641e-05	1.169e-05	6.572e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1029.59	34	chr6	52794262	.	C	CA	1029.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.422;DP=309;ExcessHet=0;FS=1.247;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.06;ReadPosRankSum=0.627;SOR=1.048	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,99,1485	6	0	1	0
chr6	53902649	53902649	A	G	exonic	LRRC1	.	nonsynonymous SNV	LRRC1:NM_018214:exon9:c.A808G:p.I270V	.	442	1079	1	0	0	1	0.000463177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.0213494728963	0.0006	.	0.0003	0.0003	0	0	0	0.0005	0	0.0001	0.0003622	56	154602	rs199592597	0.0009	0.0009	0.0009	0.0009	0.0011	0.0008	0.0008	0.0011	0.0010	0.0003	0.0001	0	0	3.757e-05	0	0.0011	0.0003	6.136e-05	0.0006	0.0006	0.0007	0.0006	0.0010	0.0005	0.0005	0.0007	0.0007	0.0004	0	0.0010	0	0	0	0	0.0009	0	0	0.014	0.53172	D	0.191	0.28391	T	0.958	0.54977	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.365	0.03101	N	0.46	0.56281	T	-0.98	0.25986	N	0.392	0.43320	-1.0256	0.21886	T	0.077	0.30706	T	10	0.17247811	0.32022	T	0.021349	0.44105	T	0.268	0.58254	.	.	0.168254554758	0.16434	0.19939471896802732	0.19856	1.00100662246	0.74402	0.58390212059	0.50636	T	0.043734	0.26594	T	-0.399509	0.02332	T	-0.35281	0.38884	T	0.0738334432244301	0.09179	T	0.880112	0.59716	D	0.15959847	0.35842	0.13474531	0.32280	0.15959847	0.35842	0.13474531	0.32280	-7.541	0.57898	D	.	.	0.238	0.47239	B	.	.	4.224310	0.63925	24.6	0.99888411929963505	0.96281	0.98813	0.87189	D	AEFBI	0.852267	0.76917	D	0.282193659090815	0.55244	3.688742	0.346682780203462	0.58307	4.000597	0.997945442693481	0.36224	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.62	4.46	0.53567	9.143000	0.93800	9.273000	0.79652	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.9257:0.0:0.0743:0.0	10.645	0.44805	813	0.42397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	420.83	30	chr6	53902649	.	A	G	420.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.097;DP=230;ExcessHet=0;FS=1.116;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.65;ReadPosRankSum=0.797;SOR=0.478	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1166	6	0	1	0
chr6	55874486	55874486	A	T	exonic	BMP5	.	nonsynonymous SNV	BMP5:NM_001329754:exon1:c.T380A:p.I127K,BMP5:NM_001329756:exon1:c.T380A:p.I127K,BMP5:NM_021073:exon1:c.T380A:p.I127K	.	424	1049	48	1	0	50	0.0232775	.	.	.	3217204	BMP5-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.213	.	0.0044	0.00658946	0.0060	0.0012	0.0044	0	0.0017	0.0064	0.0111	0.0130	0.0057114	883	154602	rs148766592	0.0061	0.0061	0.0058	0.0064	0.0134	0.0060	0.0060	0.0128	0.0125	0.0008	0.0033	0.0007	5.04e-05	0.0016	0.0111	0.0064	0.0052	0.0134	0.0043	0.0043	0.0045	0.0041	0.0125	0.0041	0.0039	0.0099	0.0090	0.0011	0	0.0022	0.0006	0.0002	0.0011	0.0102	0.0072	0.0047	0.0125	0.312	0.13925	T	0.279	0.21745	T	0.0	0.02946	B	0.001	0.04355	B	0.016900	0.27861	N	0.409080	0.999942	0.19238	N	0	0.06538	N	-0.55	0.71068	T	-0.32	0.12283	N	0.306	0.34552	-1.0321	0.19777	T	0.078	0.31103	T	10	0.005883813	0.00132	T	.	.	.	0.213	0.50496	.	.	0.673091222706	0.67032	0.38443853275356543	0.38358	0.364414730211	0.38057	0.486332833767	0.36930	T	0.27718	0.64979	T	-0.372903	0.03450	T	-0.297394	0.44999	T	0.0186218125012243	0.00576	T	0.737926	0.35508	T	0.12036941	0.28325	0.18262362	0.41201	0.12036941	0.28325	0.18262362	0.41200	-2.995	0.10127	T	.	.	0.142	0.31203	B	.	.	2.070988	0.26338	17.08	0.86946015747244509	0.16882	0.80071	0.39809	D	AEFGBI	0.406686	0.47907	N	-0.282567121738962	0.29822	1.657207	-0.0970046483997416	0.35514	2.055537	0.999992548734019	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.96	3.61	0.40494	5.786000	0.68654	8.107000	0.76578	0.756000	0.94297	1.000000	0.71638	0.982000	0.30508	0.830000	0.39126	0.8006:0.0:0.1994:0.0	8.575	0.32753	824	0.40336	TGF-beta, propeptide	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011078	0.000000	0.005435	0.011696	0.050000	0.017241	0.009146	0.022727	0.07143	1658.63	35	chr6	55874486	.	A	T	1658.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.47;DP=317;ExcessHet=0;FS=0.655;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=0.245;SOR=0.767	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1067	6	0	1	0
chr6	56164427	56164427	G	A	exonic	COL21A1	.	nonsynonymous SNV	COL21A1:NM_001318752:exon8:c.C1358T:p.P453L,COL21A1:NM_030820:exon9:c.C1367T:p.P456L,COL21A1:NM_001318751:exon10:c.C1367T:p.P456L	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	.	0.00519169	0.0057	0	0	0.0007	0	6.881e-05	0	0.0204	0.0017141	265	154602	rs527933100	0.0009	0.0010	0.0005	0.0013	0.0148	0.0009	0.0009	0.0141	0.0138	6.109e-05	0	0	5.209e-05	0	0.0007	2.381e-05	0.0012	0.0148	0.0005	0.0005	0.0003	0.0008	0.0166	0.0004	0.0004	0.0137	0.0126	0	0	0	0	0.0002	0	0	1.471e-05	0	0.0166	0.358	0.14449	T	0.05	0.51421	T	0.006	0.23190	B	0.007	0.18783	B	0.001434	0.39044	N	0.112660	0.999834	0.49637	D	2.1	0.58353	M	1.64	0.27822	T	-3.59	0.70553	D	0.264	0.32148	-1.1171	0.02524	T	0.084	0.32843	T	10	0.008856773	0.00200	T	.	.	.	0.042	0.11227	.	.	0.426084969639	0.42228	0.3145335393957485	0.31366	0.0204687960405	0.02011	0.550921201706	0.45988	T	0.425766	0.77578	T	-0.509844	0.00503	T	-0.492158	0.23164	T	0.0369139304589459	0.03140	T	0.824718	0.48674	T	0.13039154	0.30425	0.11779107	0.28435	0.13039154	0.30425	0.11779107	0.28434	-5.872	0.45195	T	.	.	0.072	0.05979	B	.;.;.	.;.;.	2.204950	0.28123	17.69	0.94706889630660018	0.25366	0.93102	0.57332	D	AEFI	0.441148	0.49942	N	0.385504567462041	0.60636	4.254711	0.445750237918021	0.64443	4.699785	0.304093513934581	0.19219	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.26	5.26	0.73479	3.456000	0.52764	6.532000	0.55860	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0762:0.0:0.9238:0.0	12.583	0.55754	721	0.55360	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005040	0.000000	0.001359	0.002924	0.000000	0.008772	0.006098	0.003788	0.08333	468.27	28	chr6	56164427	.	G	A	468.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.972;DP=182;ExcessHet=0;FS=1.281;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=-0.22;SOR=1.127	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1007	5	0	1	1
chr6	56459090	56459090	C	G	exonic	DST	.	nonsynonymous SNV	DST:NM_015548:exon84:c.G15431C:p.R5144P,DST:NM_001374730:exon93:c.G16043C:p.R5348P,DST:NM_183380:exon94:c.G16409C:p.R5470P,DST:NM_001144770:exon95:c.G16529C:p.R5510P,DST:NM_001144769:exon97:c.G16943C:p.R5648P,DST:NM_001374729:exon98:c.G22301C:p.R7434P,DST:NM_001374722:exon103:c.G23300C:p.R7767P,DST:NM_001374734:exon103:c.G23327C:p.R7776P,DST:NM_001374736:exon104:c.G23372C:p.R7791P	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	0	1520	1	0	1	2	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.0367912559241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	1.0	0.90584	D	0.995	0.83170	D	0.000317	0.45977	D	0.000000	.	.	.	.	.	.	0.21	0.68474	T	-5.7	0.90490	D	0.475	0.67132	0.046	0.83172	D	0.525	0.82307	D	9	0.39734918	0.55321	T	0.036791	0.57211	D	0.402	0.71558	.	.	0.604937310709	0.60177	0.6908610292476667	0.69026	1.64874246237	0.89509	0.541585326195	0.44669	T	0.09346	0.39215	T	0.206483	0.74500	D	0.0588224	0.74168	D	0.99935108423233	0.97079	D	0.979602	0.93000	D	.	.	.	.	.	.	.	.	-6.849	0.52923	T	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	3.622274	0.51264	23.1	0.95338727472655227	0.26708	0.98578	0.84304	D	AEFDBI	0.943129	0.94856	D	0.636822764993539	0.75520	6.320255	0.681289129457514	0.80961	7.41641	0.999999999998875	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	7.905000	0.86479	7.689000	0.65692	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.999	0.97403	146	0.94180	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1016.46	84	chr6	56459090	.	C	G	1016.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.64;DP=258;ExcessHet=0;FS=0.829;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-0.396;SOR=0.838	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1053	6	0	1	0
chr6	56618125	56618125	A	G	exonic	DST	.	nonsynonymous SNV	DST:NM_001723:exon23:c.T5909C:p.F1970S	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	1	1496	25	0	0	25	0.00828638	.	.	.	308288	Hereditary_sensory_and_autonomic_neuropathy_type_6|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency|not_provided	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.172	.	0.0029	0.00299521	0.0048	0.0005	0.0014	0	0.0024	0.0056	0.0044	0.0103	0.0045278	700	154602	rs141573097	0.0045	0.0045	0.0043	0.0047	0.0108	0.0044	0.0044	0.0102	0.0100	0.0006	0.0010	0.0007	2.519e-05	0.0034	0.0076	0.0046	0.0037	0.0108	0.0030	0.0030	0.0032	0.0028	0.0120	0.0028	0.0027	0.0096	0.0087	0.0007	0	0.0007	0.0009	0	0.0021	0.0034	0.0049	0.0019	0.0120	0.13	0.26740	T	0.407	0.14679	T	0.99	0.63424	D	0.858	0.61127	P	.	.	.	.	.	.	.	.	.	.	1.39	0.33842	T	-0.17	0.09627	N	0.679	0.68603	-1.0615	0.11385	T	0.086	0.33298	T	7	0.009896845	0.00222	T	.	.	.	0.172	0.43662	.	.	0.547936802839	0.54449	.	.	.	.	.	.	.	.	.	.	-0.479882	0.00740	T	-0.452698	0.27398	T	0.0369915285635896	0.03154	T	0.586841	0.21439	T	.	.	.	.	.	.	.	.	-2.129	0.03710	T	.	.	0.691	0.72581	P	.	.	3.190999	0.43354	21.7	0.99826548449264196	0.90852	0.95429	0.64685	D	AEFDBHCI	0.866895	0.78646	D	0.499655924641192	0.67070	5.032908	0.534680830707506	0.70339	5.490656	0.999999938283919	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.596874	0.31795	0	0.755437	0.99637	0	.	.	5.49	5.49	0.81022	4.382000	0.59360	11.261000	0.91078	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	15.586	0.76226	299	0.88026	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.005051	0.006793	0.020468	0.000000	0.008621	0.009146	0.003788	0.07143	1835.45	54	chr6	56618125	.	A	G	1835.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.244;DP=439;ExcessHet=0;FS=2.984;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=0.626;SOR=0.542	GT:AD:DP:GQ:PL	0/0:97,0:97:99:0,120,1800	6	0	1	0
chr6	56640283	56640283	G	C	exonic	DST	.	nonsynonymous SNV	DST:NM_001723:exon4:c.C739G:p.P247A,DST:NM_015548:exon4:c.C739G:p.P247A,DST:NM_001374729:exon14:c.C1717G:p.P573A,DST:NM_001374730:exon14:c.C1717G:p.P573A,DST:NM_183380:exon14:c.C1717G:p.P573A,DST:NM_001144770:exon15:c.C1837G:p.P613A,DST:NM_001144769:exon17:c.C2251G:p.P751A,DST:NM_001374722:exon18:c.C2350G:p.P784A,DST:NM_001374734:exon18:c.C2377G:p.P793A,DST:NM_001374736:exon18:c.C2350G:p.P784A	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	2	1475	43	2	0	47	0.0156823	.	.	.	308408	DST-related_disorder|Hereditary_sensory_and_autonomic_neuropathy_type_6|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency|not_provided|Inborn_genetic_diseases	.|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.033	.	0.0018	0.00299521	0.0033	0.0004	0.0012	0	0.0002	0.0030	0.0022	0.0107	0.0031177	482	154602	rs151271595	0.0028	0.0028	0.0025	0.0030	0.0102	0.0027	0.0027	0.0096	0.0094	0.0006	0.0014	0.0029	2.519e-05	0.0004	0.0095	0.0024	0.0033	0.0102	0.0018	0.0018	0.0017	0.0019	0.0097	0.0016	0.0016	0.0075	0.0067	0.0006	0	0.0023	0.0037	0.0002	0	0.0034	0.0022	0.0038	0.0097	0.052	0.52492	T	0.429	0.17217	T	0.023	0.25584	B	0.029	0.28327	B	0.073886	0.21317	N	0.395716	.	.	.	1.24	0.30952	L	1.06	0.82715	T	-1.84	0.59545	N	0.124	0.18512	-1.0564	0.12672	T	0.133	0.44661	T	9	0.0032327473	0.00055	T	.	.	.	0.033	0.08068	.	.	0.366092821824	0.36220	0.3893332817011348	0.38848	0.139746512027	0.15750	0.298681229353	0.10204	T	0.010347	0.16227	T	-0.41251	0.01913	T	-0.357357	0.38358	T	0.00171214513294426	0.00017	T	0.842416	0.51891	T	.	.	.	.	.	.	.	.	-4.492	0.30784	T	.	.	0.061	0.01143	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.025952	0.14055	10.63	0.74773530716296321	0.10821	0.50708	0.28725	D	AEFDGBHCI	0.156510	0.28188	N	-0.715540201429122	0.15585	0.7867031	-0.601513759295084	0.19453	1.043817	0.999999734906887	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.95	1.56	0.22423	0.441000	0.21325	1.420000	0.26356	0.676000	0.76740	0.773000	0.29391	0.931000	0.28545	0.995000	0.73285	0.0:0.3053:0.1732:0.5215	7.512	0.26746	314	0.87270	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009063	0.000000	0.008152	0.011696	0.000000	0.000000	0.012195	0.015152	0.07143	850.44	72	chr6	56640283	.	G	C	850.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.548;DP=256;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.665;SOR=0.602	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1197	6	0	1	0
chr6	63684165	63684165	A	G	exonic	PHF3	.	nonsynonymous SNV	PHF3:NM_001370349:exon3:c.A179G:p.K60R,PHF3:NM_015153:exon3:c.A443G:p.K148R,PHF3:NM_001290260:exon4:c.A443G:p.K148R,PHF3:NM_001370348:exon4:c.A443G:p.K148R,PHF3:NM_001290259:exon5:c.A179G:p.K60R	.	426	1089	6	1	0	8	0.00365965	.	.	.	710576	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.185	.	0.0067	0.00319489	0.0094	0.0019	0.0030	0	0.0360	0.0113	0.0166	0.0046	0.008454	1307	154602	rs41271581	0.0087	0.0087	0.0087	0.0087	0.0158	0.0086	0.0085	0.0132	0.0122	0.0017	0.0033	0.0364	0	0.0305	0.0158	0.0079	0.0109	0.0045	0.0085	0.0085	0.0077	0.0093	0.0094	0.0081	0.0079	0.0088	0.0086	0.0019	0	0.0029	0.0360	0	0.0338	0.0204	0.0094	0.0095	0.0029	0.0	0.91255	D	0.047	0.92824	D	1.0	0.90584	D	0.996	0.88582	D	0.000849	0.41440	D	0.000000	0.999123	0.47157	D	0.55	0.14455	N	1.35	0.55439	T	-1.04	0.62343	N	0.463	0.62781	-0.5180	0.67989	T	0.264	0.63555	T	10	0.0066666007	0.00151	T	.	.	.	0.185	0.45933	.	.	0.562498043355	0.55911	0.17696823129763384	0.17615	0.304320638813	0.32741	0.687846422195	0.65397	T	0.064006	0.32323	T	-0.328064	0.06259	T	-0.231694	0.51608	T	0.0357205323042048	0.02932	T	0.855914	0.62461	D	0.33207276	0.55640	0.4021575	0.64706	0.33207276	0.55640	0.4021575	0.64706	-4.519	0.31136	T	.	.	0.211	0.43855	B	.;.;.;.;.;.	.;.;.;.;.;.	3.146585	0.42582	21.6	0.99560720080608101	0.71769	0.96941	0.71780	D	AEFBI	0.526529	0.54885	D	0.714361191167439	0.80572	7.324382	0.709548942371232	0.83103	7.934935	0.999999978180273	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	4.431000	0.59660	9.317000	0.80010	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.360	0.83096	791	0.46100	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.018127	0.000000	0.029891	0.029240	0.000000	0.008621	0.012195	0.000000	0.08333	584.27	24	chr6	63684165	.	A	G	584.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.2;DP=203;ExcessHet=0;FS=1.056;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=-1.258;SOR=0.963	GT:AD:DP:GQ:PL	0/1:34,25:59:99:594,0,797	5	0	1	1
chr6	63711342	63711342	T	C	exonic	PHF3	.	nonsynonymous SNV	PHF3:NM_001370349:exon14:c.T3713C:p.L1238P,PHF3:NM_001370350:exon14:c.T1784C:p.L595P,PHF3:NM_015153:exon14:c.T3977C:p.L1326P,PHF3:NM_001370348:exon15:c.T3977C:p.L1326P,PHF3:NM_001290259:exon16:c.T3713C:p.L1238P	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	0.143661231128	.	.	8.38e-06	0	0	0	0	0	0	6.504e-05	6.5e-06	1	154602	rs745997010	2.058e-06	2.052e-06	1.365e-06	2.759e-06	1.801e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.003118	0.35419	N	0.000000	1	0.81001	D	2.585	0.75554	M	0.04	0.62051	T	-6.46	0.91436	D	0.952	0.96072	-0.1967	0.77756	T	0.385	0.74054	T	10	0.8239075	0.81579	D	0.143661	0.82597	D	0.574	0.82742	0.617	0.75116	0.502047813367	0.49841	0.9050530001672079	0.90478	0.545405473843	0.51576	0.778288781643	0.78670	T	0.350686	0.71837	T	0.284874	0.81730	D	0.274369	0.86816	D	0.904712975025177	0.55825	D	0.939506	0.77228	D	0.92310077	0.93550	0.90671027	0.95455	0.92310077	0.93551	0.90671027	0.95455	-11.944	0.84577	D	.	.	0.998	0.97486	P	.;.;.	.;.;.	4.308988	0.65859	24.9	0.9991124323479551	0.98095	0.99311	0.94324	D	AEFBI	0.959253	0.97947	D	0.856519379512952	0.89477	9.987572	0.848702317667496	0.92940	11.72475	0.999999999955784	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	6.04	6.04	0.98025	7.962000	0.87458	7.890000	0.72998	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.576	0.84487	789	0.46346	Spen paralogue and orthologue SPOC, C-terminal;Spen paralogue and orthologue SPOC, C-terminal;Spen paralogue and orthologue SPOC, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	500.83	15	chr6	63711342	.	T	C	500.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.674;DP=177;ExcessHet=0;FS=2.555;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=-0.664;SOR=1.2	GT:AD:DP:GQ:PL	0/1:29,19:48:99:511,0,827	6	0	1	0
chr6	69962835	69962835	G	A	exonic	COL19A1	.	nonsynonymous SNV	COL19A1:NM_001858:exon11:c.G991A:p.G331S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.870	0.109269620332	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1294236513	1.375e-06	2.052e-06	1.368e-06	1.382e-06	1.806e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.806e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.66756	D	0.833	0.46172	P	0.669	0.53077	P	0.000213	0.47681	D	0.132704	0.976601	0.39291	D	3.775	0.95212	H	.	.	.	.	.	.	0.639	0.65159	1.097	0.99516	D	0.971	0.99091	D	10	0.9856405	0.98828	D	0.10927	0.78616	D	.	.	0.991	0.99904	0.676409406839	0.67366	0.8622976150248376	0.86193	.	.	0.573664188385	0.49195	T	0.841083	0.96294	D	0.106786	0.65018	D	-0.0843855	0.64583	T	0.990990161895752	0.81240	D	0.874613	0.58533	D	0.79001725	0.83274	0.7607314	0.85863	0.79001725	0.83276	0.7607314	0.85864	-8.98	0.67568	D	.	.	0.203	0.42749	B	.	.	4.397239	0.67907	25.2	0.95685738570186241	0.27554	0.88317	0.48190	D	AEFI	0.679220	0.64332	D	0.678838278342254	0.78246	6.833005	0.659050173898862	0.79286	7.050456	0.9875522483515	0.31292	0.651	0.46895	0	0.708844	0.79440	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.2	5.2	0.71720	4.465000	0.59876	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	14.604	0.68060	679	0.60090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	98.27	33	chr6	69962835	.	G	A	98.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.814;DP=190;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.28;ReadPosRankSum=-0.822;SOR=0.54	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,852	5	0	1	1
chr6	70579485	70579485	C	T	exonic	SDHAF4	.	stopgain	SDHAF4:NM_145267:exon2:c.C136T:p.Q46X	.	434	1086	1	1	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0051	0.0091853	0.0031	0.0142	0.0030	0.0096	0	0.0005	0.0066	0.0042	0.002846	440	154602	rs61735710	0.0014	0.0015	0.0014	0.0015	0.0144	0.0014	0.0014	0.0133	0.0129	0.0144	0.0027	0.0011	0.0107	1.875e-05	0.0049	0.0004	0.0030	0.0051	0.0054	0.0054	0.0054	0.0055	0.0145	0.0051	0.0050	0.0136	0.0132	0.0145	0	0.0060	0.0006	0.0096	9.42e-05	0.0034	0.0004	0.0085	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	0.000002	0.62929	D	0.101718	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.214	0.23884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0435668	0.57510	T	0.302778	0.88324	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	7.769793	0.96844	36	0.99799296255825187	0.88461	0.53165	0.29305	D	AEFBI	0.093184	0.18857	N	0.691463960071455	0.79072	7.001395	0.459888678907322	0.65354	4.813261	0.00798158111077994	0.11586	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.82	5.82	0.92740	1.226000	0.32167	3.863000	0.40147	0.589000	0.31548	0.994000	0.38300	1.000000	0.68203	0.526000	0.29613	0.166:0.834:0.0:0.0	12.562	0.55636	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.010101	0.010870	0.002924	0.000000	0.008621	0.000000	0.003788	0.07143	987.63	34	chr6	70579485	.	C	T	987.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.633;DP=246;ExcessHet=0;FS=0.943;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-0.698;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1054:.	6	0	1	0
chr6	70668078	70668078	C	A	exonic	SMAP1	.	nonsynonymous SNV	SMAP1:NM_001044305:exon1:c.C55A:p.L19I,SMAP1:NM_001281439:exon1:c.C55A:p.L19I,SMAP1:NM_021940:exon1:c.C55A:p.L19I	.	414	1100	8	0	0	8	0.00362319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	.	0.0079	0.00259585	0.0075	0.0016	0.0032	0	0.0021	0.0121	0.0036	0.0025	0.0072767	1125	154602	rs112439957	0.0093	0.0093	0.0093	0.0093	0.0109	0.0092	0.0091	0.0108	0.0107	0.0011	0.0032	0.0167	2.574e-05	0.0028	0.0068	0.0109	0.0072	0.0025	0.0066	0.0066	0.0070	0.0061	0.0113	0.0062	0.0061	0.0106	0.0104	0.0015	0	0.0050	0.0135	0.0002	0.0026	0	0.0113	0.0033	0.0025	0.088	0.32296	T	0.088	0.40909	T	0.072	0.23997	B	0.21	0.37304	B	0.001848	0.37840	N	0.215756	0.618202	0.32681	D	1.28	0.32218	L	0.98	0.42122	T	-0.39	0.13611	N	0.311	0.35088	-1.0598	0.11805	T	0.059	0.24797	T	10	0.007963449	0.00181	T	.	.	.	0.115	0.32236	.	.	0.313793572803	0.30980	0.42975751990059075	0.42892	1.65366835051	0.89587	0.715027928352	0.69321	T	0.018582	0.14954	T	-0.536817	0.00350	T	-0.534482	0.18841	T	0.0840505881916873	0.10497	T	0.960604	0.85218	D	0.35457772	0.57421	0.30422977	0.56452	0.35457772	0.57422	0.30422977	0.56451	-7.803	0.60769	D	.	.	0.103	0.24329	B	.;.;.	.;.;.	4.130992	0.61814	24.4	0.97042495860566991	0.32117	0.80577	0.40178	D	ALL	0.698199	0.65595	D	-0.0392130313705469	0.40086	2.374627	0.110564315943496	0.45087	2.778255	0.999999999999661	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.81	4.81	0.61401	5.325000	0.65649	5.622000	0.49088	0.520000	0.23804	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:0.6921:0.3079:0.0	12.234	0.53821	644	0.63734	.;.;Arf GTPase activating protein|Arf GTPase activating protein	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005040	0.000000	0.009511	0.002924	0.000000	0.000000	0.006098	0.000000	0.07143	1547.45	44	chr6	70668078	.	C	A	1547.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.683;DP=320;ExcessHet=0;FS=7.92;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.43;SOR=0.587	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1250	6	0	1	0
chr6	72097152	72097152	G	T	exonic	RIMS1	.	nonsynonymous SNV	RIMS1:NM_001350412:exon2:c.G368T:p.R123L,RIMS1:NM_001350411:exon3:c.G446T:p.R149L,RIMS1:NM_001350413:exon3:c.G449T:p.R150L,RIMS1:NM_014989:exon3:c.G449T:p.R150L	Cone-rod dystrophy 7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.803	0.1917067265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	2.052e-06	1.362e-06	0	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.998	0.73220	D	0.996	0.84481	D	0.000074	0.52346	D	0.000000	1	0.81001	D	2.23	0.63091	M	-1.07	0.76948	T	-4.18	0.76822	D	0.907	0.93370	0.379	0.88787	D	0.657	0.88076	D	10	0.8702456	0.86287	D	0.191707	0.86200	D	0.803	0.93582	0.597	0.72739	0.946017929153	0.94544	0.4866660581705572	0.48586	1.74582744126	0.90929	0.832928538322	0.87011	D	0.89567	0.97915	D	0.358533	0.87139	D	0.277232	0.86972	D	0.990070521831512	0.80290	D	0.995	0.98400	D	0.47828564	0.65797	0.6994405	0.82294	0.47828564	0.65797	0.6994405	0.82295	-13.427	0.91045	D	.	.	0.978	0.92530	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.020819	0.83447	28.0	0.99859084736911485	0.93729	0.99811	0.99622	D	AEFI	0.929270	0.91477	D	0.967212866433578	0.94643	12.92112	0.926991980407768	0.96645	14.95708	0.999999996948191	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.81	5.81	0.92413	9.834000	0.98333	11.775000	0.95959	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:0.0:1.0:0.0	20.080	0.97771	829	0.39537	.;.;.;.;Zinc finger, FYVE-related|Rab-binding domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	84.44	34	chr6	72097152	.	G	T	84.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.207;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.44;ReadPosRankSum=-1.361;SOR=0.569	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr6	72265986	72265986	C	T	exonic	RIMS1	.	nonsynonymous SNV	RIMS1:NM_001350435:exon14:c.C1499T:p.A500V,RIMS1:NM_001350457:exon14:c.C1502T:p.A501V,RIMS1:NM_001168407:exon15:c.C1562T:p.A521V,RIMS1:NM_001168408:exon15:c.C1565T:p.A522V,RIMS1:NM_001168409:exon15:c.C1322T:p.A441V,RIMS1:NM_001168410:exon15:c.C1520T:p.A507V,RIMS1:NM_001350414:exon15:c.C1565T:p.A522V,RIMS1:NM_001350415:exon15:c.C1562T:p.A521V,RIMS1:NM_001350416:exon15:c.C1565T:p.A522V,RIMS1:NM_001350417:exon15:c.C1565T:p.A522V,RIMS1:NM_001350420:exon15:c.C1565T:p.A522V,RIMS1:NM_001350422:exon15:c.C1562T:p.A521V,RIMS1:NM_001350425:exon15:c.C1562T:p.A521V,RIMS1:NM_001350427:exon15:c.C1562T:p.A521V,RIMS1:NM_001350433:exon15:c.C1565T:p.A522V,RIMS1:NM_001350438:exon15:c.C1562T:p.A521V,RIMS1:NM_001350439:exon15:c.C1565T:p.A522V,RIMS1:NM_001350441:exon15:c.C1562T:p.A521V,RIMS1:NM_001350442:exon15:c.C1565T:p.A522V,RIMS1:NM_001350443:exon15:c.C1562T:p.A521V,RIMS1:NM_001350445:exon15:c.C1562T:p.A521V,RIMS1:NM_001350446:exon15:c.C1565T:p.A522V,RIMS1:NM_001350448:exon15:c.C1565T:p.A522V,RIMS1:NM_001350452:exon15:c.C1565T:p.A522V,RIMS1:NM_001350456:exon15:c.C1562T:p.A521V,RIMS1:NM_001350461:exon15:c.C1319T:p.A440V,RIMS1:NM_001350463:exon15:c.C1319T:p.A440V,RIMS1:NM_001350464:exon15:c.C1322T:p.A441V,RIMS1:NM_001350465:exon15:c.C1322T:p.A441V,RIMS1:NM_001350466:exon15:c.C1322T:p.A441V,RIMS1:NM_001350469:exon15:c.C1322T:p.A441V,RIMS1:NM_001350472:exon15:c.C1517T:p.A506V,RIMS1:NM_001350473:exon15:c.C1520T:p.A507V,RIMS1:NM_001350418:exon16:c.C1640T:p.A547V,RIMS1:NM_001350421:exon16:c.C1493T:p.A498V,RIMS1:NM_001350424:exon16:c.C1496T:p.A499V,RIMS1:NM_001350428:exon16:c.C1496T:p.A499V,RIMS1:NM_001350430:exon16:c.C1493T:p.A498V,RIMS1:NM_001350434:exon16:c.C1640T:p.A547V,RIMS1:NM_001350437:exon16:c.C1493T:p.A498V,RIMS1:NM_001350450:exon16:c.C1493T:p.A498V,RIMS1:NM_001350458:exon16:c.C1643T:p.A548V,RIMS1:NM_001350459:exon16:c.C1496T:p.A499V,RIMS1:NM_001350462:exon16:c.C1496T:p.A499V,RIMS1:NM_001350470:exon16:c.C1598T:p.A533V,RIMS1:NM_001350436:exon17:c.C1754T:p.A585V,RIMS1:NM_014989:exon22:c.C3335T:p.A1112V	Cone-rod dystrophy 7	.	.	.	.	.	.	.	.	.	.	1346199	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.00905553444566	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1309378321	8.398e-06	8.209e-06	1.109e-05	5.655e-06	1.097e-05	4.48e-06	3.54e-06	5.85e-06	4.62e-06	0	0	0	0	0	0	1.097e-05	0	0	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.532	0.20230	T	0.539	0.19246	T	0.998	0.73220	D	0.986	0.76916	D	0.000029	0.55875	D	0.000000	0.645589	0.81001	D	0.985	0.24966	L	2.48	0.17923	T	-1.36	0.33798	N	0.15	0.40164	-1.0581	0.12235	T	0.044	0.18742	T	10	0.19223928	0.34944	T	0.009056	0.23845	T	0.071	0.20720	.	.	0.412458657427	0.40865	0.3842738174103498	0.38342	0.627175699324	0.56825	0.689488768578	0.65633	T	0.17748	0.52780	T	-0.221997	0.17722	T	-0.55666	0.16692	T	0.878337025642395	0.52826	D	0.949005	0.88939	D	0.13631955	0.31605	0.16655031	0.38470	0.13631955	0.31605	0.16655031	0.38469	-2.79	0.44303	T	.	.	0.205	0.53989	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.323624	0.66194	24.9	0.98491155000689712	0.42096	0.81924	0.41234	D	AEFGI	0.355342	0.44711	N	0.0939962096573432	0.46182	2.86263	0.297019613900266	0.55364	3.699606	0.997587793521083	0.35786	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.525792	0.08840	0	.	.	5.8	5.8	0.92081	5.595000	0.67255	7.723000	0.67399	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.056	0.97650	898	0.25240	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	900.49	33	chr6	72265986	.	C	T	900.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.792;DP=221;ExcessHet=0;FS=1.145;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.37;ReadPosRankSum=-0.665;SOR=1.038	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1150	6	0	1	0
chr6	73730429	73730429	G	A	exonic	CD109	.	nonsynonymous SNV	CD109:NM_001159587:exon4:c.G362A:p.R121H,CD109:NM_133493:exon4:c.G362A:p.R121H	.	418	1085	19	0	0	19	0.00867976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00407403340912	.	0.000199681	0.0003	0	0.0002	0	0	0.0002	0	0.0014	0.0002781	43	154602	rs111900767	0.0002	0.0002	0.0002	0.0003	0.0023	0.0002	0.0002	0.0015	0.0015	8.966e-05	8.944e-05	0	0	3.744e-05	0.0023	0.0001	0.0003	0.0018	0.0002	0.0002	0.0001	0.0002	0.0021	0.0001	9.237e-05	0.0011	0.0009	4.815e-05	0	0.0001	0	0	0	0	0.0001	0	0.0021	0.151	0.24857	T	0.098	0.39040	T	0.004	0.12183	B	0.009	0.14300	B	0.960159	0.07712	N	1.017200	1	0.08975	N	2.19	0.61577	M	1.86	0.24285	T	-0.61	0.18042	N	0.329	0.38950	-0.9527	0.40503	T	0.010	0.03582	T	10	0.014167875	0.00298	T	0.004074	0.09712	T	0.015	0.02232	.	.	0.165133752707	0.16062	0.2246981547612539	0.22384	0.0355492049732	0.03753	0.291018903255	0.09071	T	0.012462	0.10952	T	-0.587824	0.00173	T	-0.652523	0.08778	T	0.0279248407251503	0.01677	T	0.737326	0.35372	T	0.019185638	0.00445	0.024031734	0.00418	0.019185638	0.00445	0.024031734	0.00418	-4.718	0.33622	T	.	.	0.069	0.06250	B	.;.	.;.	1.434112	0.18528	13.78	0.97070937584941419	0.32239	0.03360	0.08452	N	AEFBI	0.089823	0.18205	N	-1.2080209151828	0.04881	0.221288	-1.23191064721539	0.05405	0.2574195	0.806036546163615	0.24271	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.28	-2.17	0.06663	-0.003000	0.12836	-0.574000	0.08411	-0.135000	0.12811	0.003000	0.16062	0.000000	0.08366	0.453000	0.27962	0.2431:0.3321:0.1914:0.2334	0.775	0.00965	886	0.28090	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.07143	854.44	107	chr6	73730429	.	G	A	854.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.03;DP=302;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.99;ReadPosRankSum=3.51;SOR=0.762	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1153	6	0	1	0
chr6	73730508	73730508	G	C	exonic	CD109	.	nonsynonymous SNV	CD109:NM_001159587:exon4:c.G441C:p.K147N,CD109:NM_133493:exon4:c.G441C:p.K147N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.379	0.0681648577634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.084	0.41239	T	0.86	0.47373	P	0.561	0.49582	P	0.000063	0.52346	D	0.121974	0.927278	0.81001	D	1.685	0.43254	L	-0.81	0.73949	T	-2.44	0.53420	N	0.728	0.72925	-0.6692	0.61865	T	0.262	0.63350	T	10	0.7706835	0.77057	D	0.068165	0.70373	D	0.379	0.69696	0.605	0.73706	0.523082183605	0.51953	0.6049376649993708	0.60424	0.201168129084	0.22514	0.572387576103	0.49016	T	0.021601	0.16792	T	-0.0225458	0.48490	T	-0.270162	0.47803	T	0.874607993844681	0.52447	D	0.816118	0.47137	T	0.098481365	0.23229	0.10561609	0.25393	0.098481365	0.23229	0.10561609	0.25393	-5.553	0.42361	T	.	.	0.362	0.57355	A	.;.	.;.	3.296886	0.45244	22.1	0.99709601027882977	0.81213	0.80641	0.40226	D	AEFBI	0.267169	0.38393	N	-0.137678238521975	0.35760	2.058186	-0.153565321349564	0.33271	1.901473	0.696490180756331	0.22647	0.706548	0.73137	0	0.633656	0.55848	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.27	1.32	0.20897	1.740000	0.37852	3.183000	0.36666	-0.887000	0.02411	1.000000	0.71638	1.000000	0.68203	0.833000	0.39279	0.3949:0.0:0.6051:0.0	7.443	0.26364	886	0.28090	.;Alpha-2-macroglobulin, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	66.25	75	chr6	73730508	.	G	C	66.25	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.463;DP=582;ExcessHet=0;FS=289.355;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.5;ReadPosRankSum=1.59;SOR=9.044	GT:AD:DP:GQ:PL	0/1:95,38:147:76:76,0,1698	5	0	1	1
chr6	73765952	73765952	G	A	exonic	CD109	.	nonsynonymous SNV	CD109:NM_001159588:exon10:c.G899A:p.G300D,CD109:NM_001159587:exon11:c.G1130A:p.G377D,CD109:NM_133493:exon11:c.G1130A:p.G377D	.	426	1064	30	2	0	34	0.0157262	.	.	.	1936492	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.076	.	0.0055	0.00559105	0.0090	0.0012	0.0049	0	0.0212	0.0093	0.0078	0.0152	0.0084604	1308	154602	rs7741152	0.0077	0.0077	0.0075	0.0080	0.0165	0.0076	0.0076	0.0138	0.0128	0.0011	0.0059	0.0032	2.52e-05	0.0196	0.0165	0.0073	0.0080	0.0130	0.0069	0.0069	0.0063	0.0074	0.0131	0.0065	0.0064	0.0105	0.0096	0.0014	0	0.0103	0.0026	0	0.0169	0.0136	0.0083	0.0066	0.0131	0.251	0.37118	T	0.14	0.34837	T	0.99	0.63424	D	0.687	0.53665	P	0.225121	0.16047	N	0.646799	0.803527	0.29086	N	1.945	0.52268	M	1.85	0.28189	T	-3.61	0.69477	D	0.329	0.38027	-1.1034	0.03704	T	0.037	0.15770	T	10	0.003906667	0.00074	T	.	.	.	0.076	0.22200	.	.	0.494165489436	0.49052	0.45858311809435987	0.45776	0.0426313712504	0.04596	0.380707502365	0.22357	T	0.077416	0.35650	T	-0.4463	0.01187	T	-0.401532	0.33206	T	0.0257510232446633	0.01373	T	0.854015	0.55085	D	0.09098712	0.21306	0.13227315	0.31745	0.09098712	0.21306	0.13227315	0.31745	-5.307	0.40012	T	.	.	0.147	0.34602	B	.;.;.	.;.;.	2.610992	0.33913	19.48	0.94816582121608906	0.25582	0.62529	0.31809	D	AEFGBI	0.068000	0.13394	N	-0.171357638359433	0.34331	1.958243	-0.128088779677515	0.34262	1.968913	0.0351198615705181	0.14186	0.706548	0.73137	0	0.588015	0.36545	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.69	2.88	0.32617	1.785000	0.38315	5.533000	0.48851	0.676000	0.76740	0.983000	0.35670	1.000000	0.68203	0.763000	0.36255	0.2571:0.0:0.7429:0.0	7.785	0.28251	865	0.32612	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.005051	0.013587	0.014620	0.000000	0.025862	0.015244	0.015152	0.07143	352.83	18	chr6	73765952	.	G	A	352.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.861;DP=136;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.6;ReadPosRankSum=0.725;SOR=1.329	GT:AD:DP:GQ:PL	0/0:25,0:25:75:0,75,809	6	0	1	0
chr6	75134743	75134743	G	A	exonic	COL12A1	.	nonsynonymous SNV	COL12A1:NM_080645:exon17:c.C2015T:p.T672M,COL12A1:NM_004370:exon32:c.C5507T:p.T1836M	Bethlem myopathy 2	428	1090	4	0	0	4	0.0018315	.	.	.	832382	not_provided|Ullrich_congenital_muscular_dystrophy_2|Bethlem_myopathy_2	MedGen:C3661900|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470,Orphanet:75840|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471,Orphanet:536516,Orphanet:610	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.329	0.0416911763402	8.2e-05	.	4.973e-05	0	0	0	0	6.001e-05	0	0.0001	5.82e-05	9	154602	rs200108494	0.0001	0.0001	9.996e-05	0.0001	0.0005	9.167e-05	8.695e-05	0.0002	0.0002	2.996e-05	4.478e-05	0	5.045e-05	0	0.0005	0.0001	0.0002	0.0003	7.882e-05	8.531e-05	0.0001	4.031e-05	0.0002	4.495e-05	3.511e-05	7.908e-05	5.994e-05	0	0	6.545e-05	0	0	0	0	0.0001	0	0.0002	0.003	0.78490	D	0.001	0.92824	D	0.998	0.73220	D	0.855	0.63802	P	0.000081	0.52346	D	0.083014	0.65741	0.33020	D	2.245	0.63543	M	0.54	0.54911	T	-1.54	0.38924	N	0.544	0.57518	-0.5945	0.65040	T	0.204	0.56114	T	10	0.33586377	0.50737	T	0.041691	0.60062	D	0.329	0.65126	.	.	0.308613300994	0.30479	0.45988704226355265	0.45906	0.54364407429	0.51433	0.629754424095	0.57111	T	0.030871	0.50206	T	-0.19112	0.22095	T	-0.220159	0.52722	T	0.18237537713103	0.19384	T	0.90061	0.65680	D	0.08604228	0.19983	0.14681843	0.34768	0.08604228	0.19982	0.14681843	0.34768	-7.503	0.57695	D	0.5477652911196719	0.61669	0.108	0.22609	B	.;.;.;.;.	.;.;.;.;.	5.455919	0.91107	32	0.99855687392098325	0.93458	0.98808	0.87122	D	AEFBI	0.727083	0.67554	D	0.610200096402295	0.73817	6.028894	0.591183977661491	0.74303	6.114687	0.99999933193915	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.87	5.0	0.66209	5.917000	0.69720	9.958000	0.82775	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0679:0.0:0.9321:0.0	15.064	0.71644	845	0.36510	Fibronectin type III;Fibronectin type III;.;.;Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.1429	33.22	33	chr6	75134743	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1250	6	1	0	0
chr6	75886849	75886849	A	G	exonic	MYO6	.	nonsynonymous SNV	MYO6:NM_001300899:exon25:c.A2513G:p.D838G,MYO6:NM_001368136:exon25:c.A2513G:p.D838G,MYO6:NM_001368137:exon25:c.A2513G:p.D838G,MYO6:NM_001368138:exon25:c.A2498G:p.D833G,MYO6:NM_001368865:exon25:c.A2513G:p.D838G,MYO6:NM_001368866:exon25:c.A2513G:p.D838G,MYO6:NM_004999:exon25:c.A2513G:p.D838G	Deafness, autosomal dominant 22, Autosomal dominant;Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, Autosomal dominant;Deafness, autosomal recessive 37, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.559	0.0465878760541	.	.	2.478e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs746906605	2.202e-05	2.19e-05	6.849e-06	3.732e-05	0.0003	1.593e-05	1.363e-05	0.0002	0.0001	0	0	0	0	0	0.0002	8.135e-06	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.36	0.16964	T	0.726	0.42471	P	0.164	0.34953	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.4	0.69460	M	-2.41	0.88689	D	-1.45	0.35597	N	0.685	0.69125	-0.0493	0.81221	T	0.479	0.80052	T	10	0.5351071	0.63403	D	0.046588	0.62527	D	0.559	0.81888	0.596	0.72617	0.937206677049	0.93656	0.6959727683852743	0.69538	0.340094388157	0.35952	0.735907554626	0.72370	T	0.116764	0.44714	T	0.0845727	0.62571	D	0.158006	0.80683	D	0.314681967513893	0.25605	T	0.957004	0.84069	D	.	.	.	.	.	.	.	.	-9.164	0.69178	D	.	.	0.140	0.32202	B	.;.;.;.;.;.	.;.;.;.;.;.	4.122732	0.61634	24.4	0.98876151855259931	0.47736	0.99732	0.99045	D	AEFBI	0.932857	0.92384	D	0.394365831299619	0.61118	4.308522	0.515914733125727	0.69060	5.306769	0.999977439165053	0.50053	0.732398	0.92422	0	0.633656	0.55848	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.93	5.93	0.95888	8.854000	0.91835	11.091000	0.85930	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.908000	0.44358	1.0:0.0:0.0:0.0	16.384	0.83331	417	0.81662	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	135.27	27	chr6	75886849	.	A	G	135.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.61;DP=125;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=0.613;SOR=1.508	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,676	5	0	1	1
chr6	78963156	78963156	T	C	exonic	PHIP	.	nonsynonymous SNV	PHIP:NM_017934:exon30:c.A3476G:p.N1159S	.	0	1519	3	0	0	3	0.000986518	.	.	.	2134162	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.061	0.00387990230978	.	.	8.237e-06	0	0	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs765151226	3.907e-05	3.899e-05	3.956e-05	3.858e-05	0.0003	3.053e-05	2.788e-05	6.099e-05	3.287e-05	0	2.261e-05	0	0	0	0.0003	3.782e-05	6.638e-05	9.323e-05	1.971e-05	1.97e-05	1.285e-05	2.691e-05	4.411e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.596	0.05703	T	0.304	0.20100	T	0.001	0.07471	B	0.001	0.04355	B	0.001921	0.37691	N	0.233361	1	0.08975	N	-0.345	0.03330	N	2.26	0.17596	T	-1.31	0.32791	N	0.076	0.05037	-0.9055	0.47389	T	0.005	0.01833	T	9	0.07202217	0.10694	T	0.00388	0.09117	T	0.061	0.17616	0.376	0.38994	0.128874641272	0.12493	0.38242153064882806	0.38157	0.526218639335	0.50253	0.37677487731	0.21798	T	0.066561	0.32978	T	-0.53336	0.00367	T	-0.821764	0.01417	T	0.0133153307147729	0.00239	T	0.661834	0.27067	T	0.022197714	0.00866	0.036935605	0.03242	0.022197714	0.00866	0.036935605	0.03241	-5.297	0.39913	T	.	.	0.065	0.01810	B	.	.	1.643094	0.20970	14.99	0.89041415366936061	0.18462	0.49519	0.28452	N	AEFGBI	0.069191	0.13683	N	-0.719605935420066	0.15472	0.7799716	-0.502956325426657	0.22073	1.197094	0.0101043444312249	0.11967	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.89	1.94	0.25058	0.579000	0.23490	1.451000	0.26606	-0.120000	0.14102	0.997000	0.40164	1.000000	0.68203	0.998000	0.85391	0.0:0.3662:0.0:0.6338	8.797	0.34047	905	0.23532	Bromodomain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	829.44	92	chr6	78963156	.	T	C	829.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.21;DP=269;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=-1.284;SOR=0.627	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1148	6	0	1	0
chr6	79003855	79003855	C	A	exonic	PHIP	.	stopgain	PHIP:NM_017934:exon16:c.G1528T:p.E510X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.919	0.92200	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.227342	0.98643	40	0.99713077563901487	0.81493	0.99295	0.94095	D	AEFBI	0.182122	0.30945	N	1.22173512422762	0.99725	25.82693	1.08832751303885	0.99723	25.79359	0.999999999617022	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.76	5.76	0.90726	7.459000	0.79833	7.720000	0.67265	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.331	0.94276	901	0.24189	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr6	79003855	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:31,0:31:81:0,81,1215	6	1	0	0
chr6	80007990	80007990	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G321C:p.E107D,TTK:NM_003318:exon3:c.G321C:p.E107D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607	0.126467273608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.035	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.938546	0.37229	D	2.62	0.76659	M	-2.54	0.89496	D	-1.53	0.56787	N	0.406	0.46649	0.480	0.90261	D	0.698	0.89595	D	10	0.39968592	0.55478	T	0.126467	0.80813	D	0.607	0.84559	0.377	0.39156	0.756102065754	0.75388	0.29326060996924297	0.29239	0.586303879314	0.54233	0.593461692333	0.51983	T	0.093775	0.51827	T	0.153432	0.69590	D	-0.0173821	0.69202	D	0.93341064453125	0.60015	D	0.887811	0.64303	D	0.7694828	0.82017	0.34171048	0.59907	0.7694828	0.82018	0.34171048	0.59906	-9.025	0.67858	D	.	.	0.446	0.62023	A	.;.;.;.;.;.	.;.;.;.;.;.	4.273798	0.65043	24.8	0.99838627551170323	0.91972	0.91788	0.54264	D	AEFBI	0.340775	0.43748	N	0.324956302953043	0.57431	3.910505	0.282171109977361	0.54497	3.614648	0.999919670358034	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	2.91	0.32903	2.081000	0.41220	5.042000	0.46920	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2117:0.0:0.7883:0.0	11.092	0.47344	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	2039.36	33	chr6	80007990	.	G	C	2039.36	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.147;DP=196;ExcessHet=3.1439;FS=227.851;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=1.29;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:28,0:51:99:0|1:80007990_G_A:753,837,1967:80007990	3	0	2	2
chr6	80007992	80007997	GTTTTG	-	exonic	TTK	.	nonframeshift deletion	TTK:NM_001166691:exon3:c.323_328del:p.S108_A110delinsT,TTK:NM_003318:exon3:c.323_328del:p.S108_A110delinsT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2031.79	33	chr6	80007991	.	AGTTTTG	A	2031.79	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.09;DP=229;ExcessHet=2.5225;FS=222.132;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=1.13;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:28,0:51:99:0|1:80007990_G_A:753,837,1967:80007990	4	0	3	0
chr6	80007992	80007996	GTTTT	-	exonic	TTK	.	stopgain	TTK:NM_001166691:exon3:c.323_327del:p.F109*,TTK:NM_003318:exon3:c.323_327del:p.F109*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0020	0.0005	0.0004	0.0005	0.0004	0.0004	0.0005	0.0005	0.0004	2.242e-05	0.0001	0.0001	0	0	0.0005	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2031.79	33	chr6	80007991	.	AGTTTT	A	2031.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.09;DP=229;ExcessHet=2.5225;FS=222.132;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=1.13;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,23:51:99:0|1:80007990_G_A:753,0,1062:80007990	6	0	1	0
chr6	80007996	80007996	-	CCCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.327_328insCCCCC:p.A110Pfs*7,TTK:NM_003318:exon3:c.327_328insCCCCC:p.A110Pfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	747.37	33	chr6	80007996	.	T	TCCCCC	747.37	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.639;DP=192;ExcessHet=3.1439;FS=221.982;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.85;ReadPosRankSum=0.399;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,23:50:99:0|1:80007990_G_A:756,0,1045:80007990	5	0	1	1
chr6	80007996	80007996	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	747.37	33	chr6	80007996	.	T	*	747.37	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.639;DP=192;ExcessHet=3.1439;FS=221.982;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=4.85;ReadPosRankSum=0.399;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:27,0:50:99:0|1:80007990_G_A:756,837,1951:80007990	3	0	3	1
chr6	80007997	80007997	-	CCCCCA	exonic	TTK	.	nonframeshift insertion	TTK:NM_001166691:exon3:c.328_329insCCCCCA:p.A110_R111insPT,TTK:NM_003318:exon3:c.328_329insCCCCCA:p.A110_R111insPT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	1257.96	32	chr6	80007997	.	G	GCCCCCA	1257.96	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.769;DP=177;ExcessHet=1.7609;FS=139.422;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=1.08;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:55:.:.:0,55,826:.	2	0	3	2
chr6	81752068	81752068	C	T	exonic	TENT5A	.	nonsynonymous SNV	TENT5A:NM_017633:exon2:c.G74A:p.G25D	.	411	1110	1	0	0	1	0.000450248	.	.	.	710622	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.179	.	0.0051	0.00658946	0.0027	0.0195	0.0051	0	0.0004	0.0019	0.0139	0	0.00174	269	154602	rs200972669	0.0021	0.0021	0.0022	0.0020	0.0199	0.0020	0.0020	0.0186	0.0181	0.0199	0.0066	0.0045	0	0.0001	0.0137	0.0015	0.0050	0	0.0081	0.0081	0.0080	0.0084	0.0214	0.0078	0.0076	0.0202	0.0197	0.0214	0	0.0123	0.0045	0	0.0002	0.0317	0.0014	0.0145	0	0.007	0.59928	D	0.015	0.61642	D	0.0	0.02946	B	0.001	0.04355	B	0.550978	0.11436	N	0.754912	0.777295	0.29922	N	.	.	.	-4.71	0.98035	D	0.02	0.08187	N	0.292	0.36569	0.050	0.83231	D	0.726	0.90629	D	9	0.0046316087	0.00097	T	.	.	.	0.179	0.44899	.	.	0.987341243947	0.98720	0.4768478063554591	0.47604	1.19444626942	0.80353	0.692417621613	0.66053	T	0.018108	0.14658	T	-0.00605984	0.50817	T	-0.246481	0.50164	T	0.0279360331189279	0.01678	T	0.738626	0.36078	T	0.07624414	0.17231	0.14385808	0.34175	0.114825346	0.27103	0.16227238	0.37701	-5.121	0.38697	T	.	.	0.151	0.40794	B	.;.;.	.;.;.	3.460753	0.48238	22.6	0.99384793044798747	0.62068	0.41272	0.26620	N	AEFDBHCIJ	0.245068	0.36607	N	-0.360116892642339	0.26903	1.471858	-0.235801220783516	0.30263	1.702479	0.999999999941062	0.74766	0.56387	0.32371	0	0.541556	0.11502	0	0.503968	0.08637	0	0.492483	0.08430	1	.	.	5.04	4.17	0.48303	2.533000	0.45326	1.681000	0.28012	0.522000	0.23927	0.958000	0.33488	0.969000	0.29651	0.959000	0.51448	0.0:0.9096:0.0:0.0904	10.488	0.43922	894	0.26265	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.026667	0.123656	0.027624	0.002924	0.000000	0.008621	0.003205	0.003788	0.1429	1130.29	30	chr6	81752068	.	C	T	1130.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.825;DP=225;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=0.293;SOR=0.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:48,0:48:85:.:.:0,85,1465:.	5	0	2	0
chr6	82957319	82957319	G	T	exonic	UBE3D	.	nonsynonymous SNV	UBE3D:NM_001350603:exon8:c.C581A:p.S194Y,UBE3D:NM_001304437:exon9:c.C1046A:p.S349Y,UBE3D:NM_198920:exon9:c.C1142A:p.S381Y,UBE3D:NM_001350602:exon10:c.C1046A:p.S349Y,UBE3D:NM_001350604:exon10:c.C581A:p.S194Y	.	435	1068	18	1	0	20	0.00927644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	.	0.0062	0.00179712	0.0065	0.0013	0.0038	0.0001	0.0189	0.0089	0.0055	0.0006	0.0063906	988	154602	rs34566948	0.0075	0.0075	0.0077	0.0074	0.0114	0.0074	0.0074	0.0092	0.0084	0.0012	0.0045	0.0085	0	0.0170	0.0114	0.0081	0.0074	0.0010	0.0063	0.0063	0.0061	0.0066	0.0084	0.0060	0.0059	0.0078	0.0076	0.0012	0.0011	0.0046	0.0081	0	0.0196	0.0274	0.0084	0.0080	0.0015	0.009	0.57480	D	0.002	0.79402	D	1.0	0.90584	D	0.993	0.81110	D	0.000003	0.62929	D	0.106577	1	0.81001	D	2.51	0.73131	M	1.45	0.32482	T	-4.0	0.74051	D	0.632	0.64563	-0.9164	0.46037	T	0.149	0.47540	T	10	0.017632455	0.00378	T	.	.	.	0.315	0.63694	.	.	0.326345978581	0.32251	0.6545564510920472	0.65391	0.894031276661	0.70350	0.547096848488	0.45448	T	0.036254	0.24035	T	-0.25914	0.13000	T	-0.135618	0.60496	T	0.016612235872143	0.00421	T	0.826617	0.49005	T	0.47465855	0.65576	0.5235199	0.72471	0.47465855	0.65576	0.5235199	0.72472	-8.699	0.65739	D	.	.	0.164	0.36214	B	.	.	4.388055	0.67691	25.1	0.99498180530173386	0.67859	0.94425	0.61124	D	AEFDBI	0.617271	0.60352	D	0.631594764806553	0.75182	6.261084	0.575537385164814	0.73191	5.930243	0.999999999582779	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.668105	0.65232	0	.	.	5.57	5.57	0.84021	5.791000	0.68692	9.895000	0.82304	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.192000	0.21661	0.0:0.0:1.0:0.0	16.467	0.83923	562	0.71143	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.010101	0.009511	0.008772	0.000000	0.000000	0.036585	0.000000	0.07143	1053.49	52	chr6	82957319	.	G	T	1053.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.197;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=1.59;SOR=0.702	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1276	6	0	1	0
chr6	83398366	83398366	C	T	splicing	ME1	NM_002395:exon3:c.362+1G>A	.	.	.	444	1073	5	0	0	5	0.0023245	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0058	0.00259585	0.0056	0.0012	0.0016	0	0.0062	0.0084	0.0044	0.0023	0.0057502	889	154602	rs78734745	0.0066	0.0066	0.0068	0.0064	0.0077	0.0065	0.0065	0.0076	0.0075	0.0006	0.0018	0.0002	0	0.0065	0.0056	0.0077	0.0048	0.0028	0.0049	0.0049	0.0053	0.0045	0.0087	0.0046	0.0045	0.0081	0.0079	0.0011	0.0055	0.0024	0	0	0.0048	0	0.0087	0.0033	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14129	0.68448	D	0.439572	0.93309	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.952412	0.94165	33	0.99568810204548441	0.72258	0.98325	0.81646	D	AEFBI	.	.	.	1.22903541350303	0.99772	26.63674	1.09683216983553	0.99775	26.71014	0.999999999569493	0.74766	0.078448	0.01964	0	0.097471	0.02872	0	0.060301	0.00762	0	0.092715	0.02821	0	0.987277	0.95699	5.86	5.86	0.93936	7.902000	0.86082	7.579000	0.60911	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	20.188	0.98225	754	0.51307	.	.	.	.	.	rs78734745	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	161.27	22	chr6	83398366	.	C	T	161.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.848;DP=159;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.564;SOR=1.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:27,0:27:81:.:.:0,81,834:.	5	0	1	1
chr6	84171654	84171654	C	T	exonic	CEP162	.	nonsynonymous SNV	CEP162:NM_001286206:exon17:c.G2003A:p.R668Q,CEP162:NM_014895:exon17:c.G2231A:p.R744Q	.	586	928	7	1	0	9	0.00482574	.	.	.	2820517	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.017	.	0.0023	0.00199681	0.0066	0.0007	0.0029	0	0.0279	0.0061	0.0104	0.0091	0.002956	457	154602	rs142624944	0.0032	0.0033	0.0031	0.0033	0.0070	0.0031	0.0031	0.0057	0.0056	0.0004	0.0009	0.0010	0	0.0152	0.0070	0.0028	0.0030	0.0062	0.0035	0.0035	0.0032	0.0038	0.0044	0.0033	0.0032	0.0038	0.0036	0.0004	0.0121	0.0008	0.0009	0	0.0167	0.0137	0.0042	0.0024	0.0044	0.395	0.10659	T	0.657	0.06576	T	0.055	0.22733	B	0.008	0.13708	B	0.738434	0.09796	N	0.878115	1	0.08975	N	1.485	0.37223	L	1.49	0.31470	T	-0.7	0.19933	N	0.111	0.09914	-0.9481	0.41296	T	0.016	0.06616	T	10	0.002163887	0.00031	T	.	.	.	0.017	0.02790	.	.	0.0611884634855	0.05136	0.12478103710927478	0.12404	0.0184041785563	0.01797	0.230163395405	0.01980	T	0.007522	0.06921	T	-0.681509	0.00047	T	-0.747011	0.03604	T	0.0170301523191542	0.00451	T	0.675632	0.28413	T	0.035422776	0.04166	0.028137911	0.01023	0.035422776	0.04165	0.028137911	0.01022	-5.384	0.40765	T	.	.	0.077	0.06525	B	.;.;.	.;.;.	1.238415	0.16341	12.48	0.93773666028667269	0.23728	0.02449	0.06892	N	AEFBI	0.037134	0.05058	N	-0.91964373721161	0.10383	0.4959058	-0.826278423357771	0.13859	0.7212081	9.41714521446526E-6	0.01202	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.43	0.592	0.16654	-1.134000	0.03340	-0.802000	0.07370	-0.230000	0.07744	0.000000	0.06391	0.000000	0.08366	0.981000	0.58702	0.1262:0.4481:0.0:0.4257	5.636	0.16811	582	0.69555	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.000000	0.002717	0.008772	0.000000	0.017241	0.006098	0.003788	0.07143	222.63	34	chr6	84171654	.	C	T	222.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.035;DP=204;ExcessHet=0;FS=1.348;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.36;ReadPosRankSum=0.256;SOR=0.704	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1086	6	0	1	0
chr6	87088164	87088164	C	A	exonic	CGA	.	nonsynonymous SNV	CGA:NM_000735:exon2:c.G37T:p.V13F,CGA:NM_001252383:exon2:c.G37T:p.V13F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00477432358254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.27767	T	0.911	0.50336	P	0.391	0.44178	B	0.011028	0.29689	N	0.407958	0.924439	0.27215	N	1.385	0.34509	L	.	.	.	.	.	.	0.262	0.29659	-1.1057	0.03467	T	0.036	0.15683	T	9	0.22615334	0.39463	T	0.004774	0.11910	T	.	.	0.351	0.34922	0.384919354899	0.38110	0.27790744889851415	0.27703	.	.	0.310626506805	0.12001	T	0.305957	0.67819	T	-0.00616427	0.50801	T	-0.246631	0.50149	T	0.59572434425354	0.36231	D	0.851815	0.53646	D	0.10353011	0.24470	0.11527219	0.27826	0.10353011	0.24469	0.11527219	0.27825	-3.986	0.23594	T	.	.	0.097	0.24566	B	.;.;.;.	.;.;.;.	0.947478	0.13235	9.735	0.99080900448166742	0.51954	0.74974	0.36691	D	AEFDGHCI	0.278035	0.39241	N	-0.149351228205596	0.35262	2.023172	-0.125156835861702	0.34378	1.976896	0.893049002279796	0.25897	0.369785	0.05700	0	0.475579	0.06741	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.63	4.77	0.60425	0.956000	0.28799	1.432000	0.26455	-0.249000	0.07183	0.995000	0.38783	0.999000	0.35428	0.003000	0.05239	0.0:0.8439:0.0:0.1561	11.492	0.49637	824	0.40336	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	899.27	33	chr6	87088164	.	C	A	899.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.341;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=0.254;SOR=0.622	GT:AD:DP:GQ:PL	0/1:57,39:96:99:909,0,1436	5	0	1	1
chr6	87418396	87418396	G	C	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon7:c.G820C:p.V274L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.0107427859896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.513e-05	0.0003	1.917e-05	1.106e-05	1.991e-05	9.91e-06	8.46e-06	1.304e-05	1.113e-05	0	0	0	0	0	0	1.991e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.343	0.17857	T	0.02	0.18235	B	0.032	0.22131	B	0.098836	0.19962	N	0.536219	0.999595	0.20909	N	.	.	.	1.55	0.29866	T	-0.84	0.22944	N	0.136	0.13341	-0.9845	0.33951	T	0.016	0.06711	T	10	0.103265375	0.18974	T	0.010743	0.27620	T	0.026	0.05648	0.395	0.42099	0.0954503805726	0.09146	0.19020201639342502	0.18938	0.19954006279	0.22355	.	.	.	0.119676	0.44138	T	-0.336867	0.05608	T	-0.721662	0.04715	T	0.0796661600470543	0.09943	T	0.69863	0.30863	T	0.034879714	0.04001	0.093172565	0.21994	0.034879714	0.04001	0.093172565	0.21993	-3.521	0.16727	T	.	.	0.158	0.34949	B	.	.	0.840487	0.12120	8.673	0.80669705967739813	0.13312	0.64434	0.32406	D	AEFI	0.131428	0.25036	N	-0.974096222241832	0.09159	0.4323572	-0.954286185025139	0.10824	0.5476554	0.0029963270333614	0.09855	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.16	-6.98	0.01454	0.167000	0.16419	0.396000	0.17945	-0.241000	0.07509	0.882000	0.31029	0.767000	0.26670	0.976000	0.56436	0.1402:0.1105:0.6398:0.1095	8.727	0.33637	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	420.11	13	chr6	87418396	.	G	C	420.11	.	AC=2;AF=0.25;AN=8;BaseQRankSum=2.35;DP=250;ExcessHet=0.6695;FS=228.186;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=3.33;ReadPosRankSum=2.11;SOR=8.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,29:61:99:0|1:87418395_G_C:301,0,226:87418395	2	0	2	3
chr6	87464029	87464029	C	T	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon13:c.C1648T:p.R550C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.0718930982044	0.0013	0.000798722	0.0004	0.0028	8.857e-05	0	0.0002	0.0003	0.0011	0	0.0003558	55	154602	rs73752022	0.0002	0.0002	0.0002	0.0002	0.0032	0.0002	0.0002	0.0027	0.0025	0.0032	6.762e-05	0.0013	2.525e-05	1.878e-05	0.0021	6.955e-05	0.0005	9.375e-05	0.0007	0.0007	0.0008	0.0006	0.0021	0.0006	0.0005	0.0018	0.0016	0.0021	0	0.0004	0.0017	0.0002	0	0.0034	5.883e-05	0	0	0.001	0.78490	D	0.131	0.34596	T	1.0	0.90584	D	0.98	0.74843	D	0.000017	0.62929	D	0.152890	0.999991	0.58761	D	.	.	.	1.11	0.38883	T	-3.87	0.72594	D	0.526	0.55540	-0.5401	0.67159	T	0.276	0.64732	T	10	0.026932895	0.00849	T	0.071893	0.71389	D	0.239	0.54358	.	.	0.606442066225	0.60329	0.6478105308367476	0.64716	0.749753492462	0.63707	.	.	.	0.495183	0.81801	T	-0.311294	0.07634	T	-0.223293	0.52419	T	0.185307290956931	0.19564	T	0.952305	0.81786	D	0.24800293	0.47783	0.2310253	0.48222	0.24800293	0.47783	0.2310253	0.48221	-8.428	0.63951	D	.	.	0.101	0.17700	B	.	.	5.326972	0.89404	30	0.9990365288908355	0.97502	0.97471	0.74963	D	AEFBI	0.654907	0.62742	D	0.716644515468755	0.80723	7.357944	0.643177271147515	0.78103	6.80953	0.71963927963334	0.22916	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.78	5.78	0.91418	5.095000	0.64363	7.632000	0.62779	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:1.0:0.0:0.0	20.014	0.97470	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002520	0.005051	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.1429	934.04	36	chr6	87464029	.	C	T	934.04	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.041;DP=221;ExcessHet=0.3476;FS=1.892;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=1.43;SOR=0.446	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1144	5	0	2	0
chr6	89623449	89623449	G	C	exonic	ANKRD6	.	nonsynonymous SNV	ANKRD6:NM_001242814:exon8:c.G760C:p.A254P,ANKRD6:NM_001242813:exon10:c.G832C:p.A278P,ANKRD6:NM_001242809:exon11:c.G937C:p.A313P,ANKRD6:NM_001242811:exon11:c.G937C:p.A313P,ANKRD6:NM_014942:exon11:c.G937C:p.A313P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0245992058489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-06	1.368e-06	1.363e-06	1.379e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.29959	T	0.142	0.45318	T	0.018	0.21357	B	0.023	0.20508	B	0.039367	0.24178	N	0.291867	0.831755	0.81001	D	1.1	0.28011	L	1.04	0.69536	T	-1.72	0.41618	N	0.142	0.22998	-0.7810	0.56246	T	0.158	0.49043	T	10	0.21127999	0.37551	T	0.024599	0.47587	T	0.136	0.36778	0.19	0.10039	0.812243866623	0.81048	0.4003691683834786	0.39951	0.0627005343337	0.06980	0.493873119354	0.37976	T	0.010344	0.20845	T	0.030306	0.55764	T	-0.194244	0.55192	T	0.687173008918762	0.40117	D	0.814918	0.46941	T	0.38700092	0.59819	0.36961833	0.62228	0.38700092	0.59819	0.36961833	0.62228	-2.743	0.09611	T	.	.	0.087	0.24599	B	.;.;.;.;.;.	.;.;.;.;.;.	3.299966	0.45293	22.1	0.99220639723840176	0.55901	0.87048	0.46473	D	AEFDBI	0.620047	0.60525	D	0.0645151457266858	0.44813	2.748561	0.232383900550737	0.51652	3.345996	0.851841989370647	0.25059	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.83	5.83	0.93059	4.089000	0.57410	11.794000	0.96459	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.1522:0.8478:0.0	14.976	0.70930	717	0.55835	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	799.49	33	chr6	89623449	.	G	C	799.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.417;DP=234;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=0.384;SOR=0.606	GT:AD:DP:GQ:PL	0/1:38,36:74:99:810,0,909	6	0	1	0
chr6	89637270	89637274	TAGTT	-	exonic	LYRM2	.	stoploss	LYRM2:NM_020466:exon3:c.266_270del:p.*89delinsLALF*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.184e-05	0	0	0	0	0	0	0.0002	1.29e-05	2	154602	rs780292406	1.01e-05	8.241e-06	5.132e-06	1.491e-05	0.0001	5.39e-06	4.25e-06	7.722e-05	5.918e-05	0	0	0	0	0	0	0	1.947e-05	0.0001	1.314e-05	1.313e-05	0	2.689e-05	0.0004	2.18e-06	8.2e-07	7.282e-05	3.026e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	310.5	13	chr6	89637269	.	ATAGTT	A	310.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.497;DP=148;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=52.92;MQRankSum=0.52;QD=11.09;ReadPosRankSum=0;SOR=0.593	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1036	6	0	1	0
chr6	89732698	89732698	T	A	exonic	MDN1	.	nonsynonymous SNV	MDN1:NM_014611:exon34:c.A4801T:p.S1601C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.621	0.0451170968094	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs752091015	8.209e-06	8.209e-06	4.084e-06	1.238e-05	0.0001	4.38e-06	3.46e-06	7.123e-05	5.481e-05	0	0	0	0	0	0	0	1.656e-05	0.0001	1.315e-05	1.314e-05	0	2.693e-05	0.0004	2.19e-06	8.2e-07	7.333e-05	3.045e-05	0	0	0	0	0	0	0	0	0	0.0004	0.001	0.78490	D	.	.	.	0.984	0.60733	D	0.945	0.68163	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.285	0.90273	M	0.7	0.51474	T	-4.33	0.76740	D	0.896	0.89577	-0.3366	0.73942	T	0.285	0.65655	T	10	0.8129636	0.80562	D	0.045117	0.61823	D	0.621	0.85301	0.644	0.78117	0.496517408137	0.49287	0.841331724582726	0.84093	0.643871819	0.57912	0.675609469414	0.63640	T	0.224286	0.58868	T	0.150698	0.69333	D	0.160218	0.80821	D	0.949600338935852	0.63148	D	0.912209	0.68770	D	0.5442671	0.69636	0.43176138	0.66783	0.5442671	0.69637	0.43176138	0.66784	-12.094	0.85306	D	.	.	0.416	0.60480	A	.;.	.;.	3.936594	0.57579	23.9	0.97590516987568887	0.34786	0.99280	0.93881	D	AEFBI	0.847689	0.76454	D	0.792290712164691	0.85619	8.630938	0.725551428714285	0.84317	8.258913	0.999999328447033	0.74766	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.31	5.31	0.75063	7.845000	0.85166	7.815000	0.69558	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:0.0:1.0	15.559	0.75963	802	0.44336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	2042.44	34	chr6	89732698	.	T	A	2042.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.81;DP=348;ExcessHet=0;FS=1.211;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-0.149;SOR=0.807	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1199	6	0	1	0
chr6	89938176	89938176	T	C	exonic	BACH2	.	nonsynonymous SNV	BACH2:NM_001170794:exon6:c.A2011G:p.I671V,BACH2:NM_021813:exon8:c.A2011G:p.I671V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.757	0.0726052358129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.089	0.40426	T	0.905	0.49920	P	0.416	0.44962	B	0.000001	0.84330	D	0.055191	0.999993	0.58761	D	1.885	0.50048	L	-2.84	0.91305	D	-0.74	0.20791	N	0.696	0.70088	0.659	0.92652	D	0.722	0.90478	D	10	0.49614614	0.61278	T	0.072605	0.71574	D	0.757	0.91710	0.599	0.72984	0.692832967785	0.69019	0.635943796332129	0.63528	0.922122916316	0.71496	0.829206466675	0.86441	D	0.713366	0.91842	D	0.151181	0.69378	D	-0.020616	0.68988	D	0.986052274703979	0.76874	D	0.941606	0.78180	D	0.541496	0.69480	0.497658	0.70953	0.541496	0.69481	0.497658	0.70953	-10.343	0.75939	D	0.7089557794822221	0.78891	0.925	0.84746	P	.;.;.	.;.;.	4.234788	0.64158	24.7	0.99882996106409483	0.95892	0.97688	0.76423	D	AEFBI	0.884516	0.81426	D	0.643895301445434	0.75975	6.401764	0.621765542965966	0.76525	6.506814	0.99999972492454	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.76	4.76	0.60189	8.005000	0.88076	7.911000	0.74030	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	14.447	0.66932	803	0.44167	Basic leucine zipper domain, Maf-type|Basic-leucine zipper domain|Basic-leucine zipper domain;Basic leucine zipper domain, Maf-type|Basic-leucine zipper domain|Basic-leucine zipper domain;Basic leucine zipper domain, Maf-type|Basic-leucine zipper domain|Basic-leucine zipper domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	20	chr6	89938176	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=183;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1057	6	1	0	0
chr6	96610639	96610639	G	A	exonic	FHL5	.	nonsynonymous SNV	FHL5:NM_001170807:exon5:c.G572A:p.G191D,FHL5:NM_001322466:exon5:c.G572A:p.G191D,FHL5:NM_001322467:exon6:c.G572A:p.G191D,FHL5:NM_020482:exon6:c.G572A:p.G191D	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0246703822464	0.0006	0.000798722	0.0009	0	0.0003	0	0	0.0010	0.0011	0.0020	0.000815	126	154602	rs17851931	0.0006	0.0006	0.0005	0.0006	0.0019	0.0005	0.0005	0.0016	0.0016	0.0001	0.0003	0.0171	0	0	0.0017	8.006e-05	0.0014	0.0019	0.0005	0.0005	0.0005	0.0005	0.0021	0.0004	0.0004	0.0011	0.0009	9.631e-05	0	0.0003	0.0141	0	0	0	0.0001	0.0009	0.0021	0.148	0.28772	T	0.126	0.35205	T	0.095	0.25437	B	0.178	0.35748	B	0.000656	0.42656	D	0.000000	0.998526	0.45035	D	1.735	0.44892	L	-2.11	0.86216	D	-2.32	0.58896	N	0.53	0.55886	-0.3588	0.73298	T	0.429	0.77166	T	10	0.016020179	0.00337	T	0.02467	0.47657	T	0.345	0.66676	.	.	0.77387072903	0.77179	0.5239808381013016	0.52322	0.150824522999	0.17009	0.446400254965	0.31452	T	0.204411	0.66592	T	-0.264457	0.12383	T	-0.159435	0.58403	T	0.0877537831621423	0.10949	T	0.841716	0.71037	T	0.28675866	0.51689	0.41550788	0.65663	0.28675866	0.51689	0.41550788	0.65663	-6.319	0.48872	T	.	.	0.448	0.63385	A	.;.;.	.;.;.	4.391468	0.67780	25.1	0.99807788836845435	0.89174	0.92088	0.54918	D	AEFBCI	0.784449	0.71513	D	0.155958212550601	0.49095	3.113716	0.311869832666972	0.56235	3.786713	0.99999071711347	0.74766	0.487112	0.14033	0	0.232529	0.04832	2	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.64	4.77	0.60425	5.460000	0.66428	7.485000	0.59302	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0684:0.0:0.8048:0.1268	11.117	0.47486	607	0.67291	Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1063.63	33	chr6	96610639	.	G	A	1063.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.189;DP=267;ExcessHet=0;FS=3.827;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=-0.321;SOR=0.405	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1106	6	0	1	0
chr6	105278232	105278232	G	A	exonic	PREP	.	nonsynonymous SNV	PREP:NM_002726:exon15:c.C2045T:p.A682V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	0.0488152020125	.	0.000399361	1.648e-05	0	0	0.0001	0	0	0	6.056e-05	2.59e-05	4	154602	rs201327468	8.209e-06	8.209e-06	6.806e-06	9.625e-06	0.0002	4.38e-06	3.46e-06	2.374e-05	1.258e-05	8.961e-05	0	0	2.519e-05	1.872e-05	0.0002	4.496e-06	1.656e-05	0	1.313e-05	1.312e-05	1.285e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0	0.0002	0.005	0.63226	D	0.01	0.65728	D	0.998	0.73220	D	0.827	0.59428	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	1.63	0.28002	T	-3.05	0.62976	D	0.722	0.72388	-0.5103	0.68275	T	0.213	0.57428	T	10	0.64349335	0.69192	D	0.048815	0.63540	D	0.375	0.69358	.	.	0.151262610727	0.14761	.	.	1.1756045138	0.79867	0.68790179491	0.65404	T	0.299694	0.67221	T	-0.0453085	0.45156	T	-0.121331	0.61693	T	0.914000630378723	0.57047	D	0.973903	0.90628	D	0.55685616	0.70336	0.41163433	0.65389	0.55685616	0.70337	0.41163433	0.65389	-10.411	0.76334	D	.	.	.	.	.	.	.	5.565779	0.92178	32	0.99940970688115316	0.99797	0.99535	0.97177	D	AEFDBI	0.893449	0.83142	D	1.0234409998694	0.96421	14.67373	0.982082482105925	0.98251	17.78609	0.999999999530438	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	9.602000	0.97623	11.816000	0.97088	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	20.305	0.98628	572	0.70300	Peptidase S9, prolyl oligopeptidase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	686.53	38	chr6	105278232	.	G	A	686.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.323;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=1.93;SOR=0.697	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	6	0	1	0
chr6	106519808	106519808	A	G	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001624:exon2:c.A1376G:p.E459G,CRYBG1:NM_001371242:exon4:c.A2600G:p.E867G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0212202703183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	1.368e-06	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.041	0.41915	D	0.024	0.56640	D	0.058	0.22967	B	0.028	0.21332	B	0.107070	0.19586	N	0.380172	0.557233	0.32183	D	.	.	.	-0.78	0.73631	T	-2.54	0.55025	D	0.097	0.10911	-0.8137	0.54325	T	0.187	0.53661	T	10	0.1305852	0.24851	T	0.02122	0.43954	T	0.144	0.38394	0.179	0.08626	0.592657251108	0.58943	0.20336707025620981	0.20253	0.104194873104	0.11789	0.325799465179	0.14299	T	0.081868	0.36696	T	-0.118302	0.33402	T	-0.407709	0.32489	T	0.300546569306755	0.25027	T	0.618838	0.23746	T	0.092914574	0.21811	0.09735285	0.23168	0.092914574	0.21811	0.09735285	0.23168	-3.752	0.20089	T	.	.	0.097	0.15966	B	.;.	.;.	2.477978	0.31950	18.90	0.99576274927560871	0.72742	0.38129	0.25918	N	ALL	0.125869	0.24257	N	-0.484201288877734	0.22598	1.207777	-0.403719046959895	0.24887	1.365423	1.0	0.98316	0.562547	0.31514	0	0.093493	0.02558	3	0.608524	0.38960	0	0.635551	0.53088	0	.	.	6.17	3.8	0.42887	1.200000	0.31854	5.432000	0.48595	-0.050000	0.17177	0.822000	0.30018	1.000000	0.68203	0.001000	0.02609	0.8418:0.0:0.1582:0.0	8.032	0.29632	863	0.32847	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	90.53	40	chr6	106519808	.	A	G	90.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.41;DP=426;ExcessHet=0;FS=98.078;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0.897;SOR=7.328	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,999	6	0	1	0
chr6	106520285	106520285	G	T	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001624:exon2:c.G1853T:p.G618V,CRYBG1:NM_001371242:exon4:c.G3077T:p.G1026V	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.00787369350644	.	.	1.65e-05	0	8.66e-05	0	0	1.501e-05	0	0	1.29e-05	2	154602	rs753669887	1.3e-05	1.3e-05	1.089e-05	1.513e-05	0.0002	8.31e-06	6.7e-06	1.779e-05	8.93e-06	0	6.709e-05	0	0	0	0.0002	8.093e-06	9.934e-05	0	3.283e-05	3.281e-05	2.57e-05	4.029e-05	0.0001	1.26e-05	7.98e-06	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0.0034	2.94e-05	0	0	0.004	0.65419	D	0.233	0.24913	T	0.055	0.22733	B	0.005	0.11217	B	0.037264	0.01831	N	2.197070	1	0.08975	N	.	.	.	-0.59	0.71543	T	-0.97	0.25770	N	0.118	0.10769	-1.1249	0.02043	T	0.103	0.38019	T	10	0.061772168	0.07797	T	0.007874	0.20877	T	0.087	0.25287	.	.	0.535247687934	0.53173	0.22587119901890743	0.22502	0.104328026919	0.11798	0.230681210756	0.02019	T	0.010774	0.09696	T	-0.328961	0.06191	T	-0.53446	0.18844	T	0.044678776653402	0.04544	T	0.581942	0.21082	T	0.08228338	0.18948	0.052287795	0.08585	0.08228338	0.18948	0.052287795	0.08585	-2.595	0.06466	T	.	.	0.098	0.16319	B	.;.	.;.	0.348035	0.07210	3.806	0.97075840071841757	0.32260	0.08010	0.13989	N	ALL	0.068065	0.13411	N	-1.02119510436039	0.08165	0.3818704	-1.04438773255173	0.08824	0.4357827	0.999999999501957	0.74766	0.706298	0.61202	0	0.484254	0.07192	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.96	1.09	0.19517	-0.059000	0.11688	-0.439000	0.09172	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.100000	0.18284	0.2368:0.153:0.47:0.1402	1.667	0.02636	862	0.33134	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1115.44	40	chr6	106520285	.	G	T	1115.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.724;DP=340;ExcessHet=0;FS=0.83;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-0.588;SOR=0.586	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	6	0	1	0
chr6	106652345	106652345	A	G	exonic	QRSL1	.	nonsynonymous SNV	QRSL1:NM_018292:exon6:c.A694G:p.I232V	.	442	1073	6	1	0	8	0.00371402	.	.	.	2096095	not_provided|QRSL1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.131	0.00553500125616	0.0002	0.00139776	0.0012	0	0.0004	0	0	0.0004	0	0.0069	0.0010479	162	154602	rs144191952	0.0006	0.0006	0.0004	0.0009	0.0066	0.0006	0.0006	0.0061	0.0059	2.987e-05	0.0002	0	2.519e-05	3.744e-05	0.0010	0.0003	0.0007	0.0066	0.0004	0.0004	0.0003	0.0005	0.0068	0.0003	0.0003	0.0050	0.0044	2.405e-05	0	0.0002	0	0	0	0	0.0004	0	0.0068	0.016	0.51853	D	0.523	0.10354	T	0.522	0.37544	P	0.371	0.43568	B	0.000000	0.84330	D	0.044753	0.999999	0.58761	D	0.585	0.15399	N	0.61	0.53516	T	-0.43	0.14390	N	0.388	0.45520	-1.0688	0.09679	T	0.077	0.30859	T	10	0.0103467405	0.00231	T	0.005535	0.14258	T	0.131	0.35738	.	.	0.768443936427	0.76632	0.7160932274796146	0.71552	0.492731692563	0.47905	0.71829521656	0.69798	T	0.025792	0.19218	T	-0.406678	0.02092	T	-0.353216	0.38837	T	0.0812246638700502	0.10143	T	0.941006	0.78138	D	0.24841353	0.47828	0.32804263	0.58697	0.27303973	0.50372	0.33458003	0.59280	-4.376	0.29230	T	0.3321426285503093	0.43013	0.147	0.37235	B	.;.	.;.	3.359489	0.46376	22.3	0.99602752529975191	0.74338	0.97756	0.76905	D	AEFBI	0.815374	0.73736	D	0.33697526946732	0.58057	3.975729	0.467971887900011	0.65880	4.879904	0.996094560094397	0.34520	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	7.065000	0.76422	7.096000	0.57520	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.387	0.83350	620	0.66037	Amidase signature domain;Amidase signature domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.002717	0.008772	0.000000	0.000000	0.000000	0.007576	0.07143	1441.63	35	chr6	106652345	.	A	G	1441.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.646;DP=280;ExcessHet=0;FS=6.365;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=1.4;SOR=1.044	GT:AD:DP:GQ:PL	0/1:43,59:102:99:1452,0,1068	6	0	1	0
chr6	107039929	107039929	A	G	exonic	MTRES1	.	nonsynonymous SNV	MTRES1:NM_001142468:exon2:c.A169G:p.T57A,MTRES1:NM_016487:exon2:c.A169G:p.T57A,MTRES1:NM_001142470:exon3:c.A184G:p.T62A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00526385118132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.06957	T	0.269	0.23365	T	0.002	0.09854	B	0.004	0.10090	B	0.088697	0.20467	N	0.519017	1	0.08975	N	1.67	0.42885	L	1.54	0.30133	T	-0.94	0.25118	N	0.063	0.03502	-1.0423	0.16621	T	0.031	0.13286	T	10	0.06928635	0.09919	T	0.005264	0.13433	T	0.036	0.09122	0.266	0.21261	0.195762928549	0.19159	0.18103985797326233	0.18022	.	.	.	.	.	0.026487	0.19590	T	-0.297446	0.08903	T	-0.665037	0.07931	T	0.0371910110116005	0.03189	T	0.436756	0.11992	T	0.03279244	0.03371	0.028639454	0.01119	0.03279244	0.03371	0.028639454	0.01119	-3.961	0.23218	T	.	.	0.083	0.09191	B	.;.;.	.;.;.	0.808692	0.11794	8.367	0.63459745269753487	0.07229	0.53270	0.29331	D	AEFBI	0.058232	0.10912	N	-0.530866283808925	0.21088	1.116549	-0.437587326701135	0.23902	1.306015	0.0653161179229808	0.15357	0.732398	0.92422	0	0.724815	0.89359	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	6.08	3.74	0.42108	1.361000	0.33740	4.414000	0.43291	-0.054000	0.16847	0.613000	0.27855	1.000000	0.68203	0.447000	0.27828	0.8655:0.0:0.1345:0.0	10.072	0.41510	620	0.66037	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	31.83	36	chr6	107039929	.	A	G	31.83	.	AC=2;AF=0.143;AN=14;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=31.83;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,108,1620:.	6	1	0	0
chr6	107039939	107039939	A	G	exonic	MTRES1	.	nonsynonymous SNV	MTRES1:NM_001142468:exon2:c.A179G:p.Y60C,MTRES1:NM_016487:exon2:c.A179G:p.Y60C,MTRES1:NM_001142470:exon3:c.A194G:p.Y65C	.	444	1076	2	0	0	2	0.000928505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00449634910182	0.0003	0.000399361	0.0003	0	0.0002	0	0	0.0003	0	0.0007	0.0002587	40	154602	rs148386621	0.0002	0.0002	0.0001	0.0002	0.0007	0.0002	0.0002	0.0006	0.0005	5.974e-05	0.0002	0	0	0	0.0005	0.0002	0.0003	0.0007	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0001	0.0003	0.0002	4.81e-05	0	0.0006	0	0	0	0	0.0002	0.0009	0.0006	0.166	0.23183	T	0.177	0.29740	T	0.0	0.02946	B	0.001	0.04355	B	0.049705	0.23136	N	0.453036	1	0.08975	N	-0.69	0.01958	N	1.54	0.30133	T	-1.08	0.28084	N	0.114	0.10198	-0.9975	0.30618	T	0.014	0.05657	T	10	0.016539961	0.00349	T	0.004496	0.11031	T	0.031	0.07369	.	.	0.202086224978	0.19791	0.1871824141245865	0.18636	.	.	.	.	.	0.034308	0.23270	T	-0.580883	0.00190	T	-0.704582	0.05578	T	0.00907548361155706	0.00114	T	0.225777	0.02969	T	0.040169824	0.05683	0.025228268	0.00561	0.040169824	0.05683	0.025228268	0.00561	-2.961	0.09767	T	.	.	0.051	0.00168	B	.;.;.	.;.;.	0.155708	0.05473	1.939	0.40644746316357777	0.02882	0.05973	0.11933	N	AEBI	0.076168	0.15316	N	-1.05098837216548	0.07568	0.3520148	-1.02882422265538	0.09154	0.4538681	0.00475520385956314	0.10700	0.732398	0.92422	0	0.724815	0.89359	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.86	2.02	0.25641	-0.031000	0.12237	-0.578000	0.08391	-0.066000	0.16423	0.000000	0.06391	0.000000	0.08366	0.034000	0.13613	0.5354:0.1532:0.1639:0.1475	1.182	0.01734	620	0.66037	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.1429	71.22	36	chr6	107039939	.	A	G	71.22	.	AC=2;AF=0.143;AN=14;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=37.33;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,108,1620:.	6	1	0	0
chr6	107634459	107634459	A	G	exonic	SOBP	.	nonsynonymous SNV	SOBP:NM_018013:exon6:c.A1615G:p.I539V	Mental retardation, anterior maxillary protrusion, and strabismus, Autosomal recessive	6	1455	54	7	0	68	0.0228341	.	.	.	135807	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.142	.	0.0037	0.0105831	0.0073	0.0074	0.0063	0.0092	0.0011	0.0042	0.0143	0.0208	0.0063389	980	154602	rs146747167	0.0044	0.0044	0.0039	0.0050	0.0276	0.0043	0.0043	0.0241	0.0227	0.0065	0.0066	0.0144	0.0147	0.0007	0.0276	0.0023	0.0071	0.0205	0.0061	0.0061	0.0059	0.0062	0.0203	0.0058	0.0056	0.0170	0.0158	0.0073	0	0.0115	0.0174	0.0095	0.0002	0.0171	0.0032	0.0086	0.0203	0.01	0.56456	D	0.162	0.31225	T	0.978	0.58756	D	0.968	0.71741	D	0.000055	0.53742	D	0.071526	0.99999	0.58761	D	1.52	0.38360	L	1.03	0.40469	T	-0.55	0.16799	N	0.505	0.53708	-1.0149	0.25368	T	0.102	0.37568	T	10	0.008447349	0.00191	T	.	.	.	0.142	0.37995	.	.	0.115124310173	0.11017	0.5404988772062471	0.53974	.	.	0.703159928322	0.67601	T	0.117586	0.43778	T	-0.388018	0.02770	T	-0.315201	0.43099	T	0.0261456943927532	0.01425	T	0.887811	0.61653	D	0.14428282	0.33124	0.14668486	0.34743	0.14428282	0.33124	0.14668486	0.34742	-7.12	0.54904	T	.	.	0.179	0.38994	B	.	.	3.774690	0.54236	23.5	0.99785662079997073	0.87219	0.97112	0.72760	D	AEFDBI	0.851424	0.76828	D	0.436393661146034	0.63436	4.577202	0.427861838613394	0.63305	4.561854	0.999999999992883	0.74766	0.652421	0.48094	0	0.596491	0.49125	0	0.64067	0.45733	0	0.604282	0.37693	0	.	.	4.1	4.1	0.47196	6.628000	0.74125	10.844000	0.83917	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.662000	0.33024	1.0:0.0:0.0:0.0	13.279	0.59638	731	0.54177	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.019134	0.030303	0.023098	0.008772	0.000000	0.008621	0.006098	0.018939	0.07143	291.46	33	chr6	107634459	.	A	G	291.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.235;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.33;ReadPosRankSum=-0.581;SOR=0.511	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1037	6	0	1	0
chr6	108181641	108181641	A	G	exonic	NR2E1	.	nonsynonymous SNV	NR2E1:NM_001286102:exon8:c.A1096G:p.I366V,NR2E1:NM_003269:exon8:c.A985G:p.I329V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.0819194695655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	0.13219	T	0.545	0.09829	T	0.374	0.34192	B	0.14	0.33554	B	0.000000	0.84330	D	0.085869	1	0.81001	D	1.055	0.26876	L	-4.0	0.96339	D	-0.4	0.13805	N	0.563	0.58713	0.224	0.86322	D	0.615	0.86389	D	10	0.34753746	0.51686	T	0.081919	0.73788	D	0.492	0.77847	0.509	0.60540	0.717469679874	0.71498	0.3265440848132674	0.32567	0.76250625634	0.64343	0.864828586578	0.91821	D	0.438777	0.78431	T	0.201947	0.74075	D	0.0523065	0.73736	D	0.681557238101959	0.39859	D	0.90021	0.65300	D	0.19545336	0.41334	0.17858672	0.40538	0.19545336	0.41334	0.17858672	0.40537	-5.565	0.42471	T	.	.	0.228	0.57104	B	.;.	.;.	3.411019	0.47314	22.4	0.99344010102813485	0.60291	0.99739	0.99101	D	AEFDBI	0.928598	0.91305	D	0.0585818474453466	0.44539	2.726028	0.262787470250063	0.53380	3.507283	0.999999977031886	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	5.87	5.87	0.94266	8.909000	0.92241	10.984000	0.84627	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.248	0.82291	752	0.51611	Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1300.46	35	chr6	108181641	.	A	G	1300.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.258;DP=280;ExcessHet=0;FS=3.758;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-0.484;SOR=0.388	GT:AD:DP:GQ:PL	0/1:46,56:102:99:1311,0,1219	6	0	1	0
chr6	108663854	108663854	G	A	exonic	FOXO3	.	nonsynonymous SNV	FOXO3:NM_001455:exon2:c.G1021A:p.A341T,FOXO3:NM_201559:exon3:c.G1021A:p.A341T	.	426	1053	43	0	0	43	0.0200093	.	.	.	710103	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.131	.	0.0032	0.00259585	0.0049	0.0012	0.0098	0	0.0003	0.0055	0.0132	0.0054	0.0043855	678	154602	rs145259784	0.0033	0.0033	0.0031	0.0035	0.0293	0.0032	0.0032	0.0257	0.0243	0.0012	0.0066	0.0474	0	0.0004	0.0293	0.0019	0.0070	0.0056	0.0038	0.0038	0.0036	0.0040	0.0086	0.0035	0.0034	0.0074	0.0070	0.0010	0	0.0086	0.0475	0.0002	9.413e-05	0.0272	0.0026	0.0137	0.0044	0.038	0.42783	D	0.293	0.20811	T	0.204	0.29802	B	0.055	0.25995	B	0.004197	0.34013	N	0.343008	1	0.08975	N	0.99	0.25021	L	-2.64	0.90147	D	-0.48	0.15379	N	0.36	0.40665	-0.6141	0.64234	T	0.381	0.73744	T	10	0.007044345	0.00160	T	.	.	.	0.131	0.35738	.	.	0.855702866044	0.85431	0.2028257584335261	0.20199	.	.	0.449852347374	0.31923	T	0.418943	0.77113	T	-0.347946	0.04857	T	-0.268572	0.47965	T	0.00784643585367514	0.00092	T	0.810019	0.46084	T	0.02431428	0.01252	0.060943298	0.11689	0.02431428	0.01251	0.060943298	0.11688	-4.51	0.31019	T	.	.	0.075	0.05404	B	.;.;.	.;.;.	2.216561	0.28284	17.75	0.97082658405871858	0.32289	0.55788	0.29952	D	AEFDGBI	0.134308	0.25428	N	-0.470631801392504	0.23047	1.234884	-0.424609406794093	0.24278	1.328551	0.984320181979407	0.30699	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.71	3.8	0.42887	2.120000	0.41591	4.937000	0.46179	0.676000	0.76740	0.765000	0.29300	1.000000	0.68203	0.027000	0.12703	0.0:0.1233:0.6517:0.225	11.799	0.51388	618	0.66225	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.030242	0.040404	0.039402	0.026316	0.000000	0.025862	0.027607	0.018939	0.1429	2808.24	108	chr6	108663854	.	G	A	2808.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.384;DP=391;ExcessHet=0.3476;FS=1.009;MLEAC=2;MLEAF=0.143;MQ=57.9;MQRankSum=0.187;QD=12.16;ReadPosRankSum=-0.005;SOR=0.684	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	2	0
chr6	109150201	109150201	A	G	exonic	CEP57L1	.	nonsynonymous SNV	CEP57L1:NM_001350661:exon3:c.A10G:p.N4D,CEP57L1:NM_001350662:exon3:c.A10G:p.N4D,CEP57L1:NM_001350663:exon3:c.A10G:p.N4D,CEP57L1:NM_001271852:exon4:c.A424G:p.N142D,CEP57L1:NM_001271853:exon4:c.A424G:p.N142D,CEP57L1:NM_001350654:exon4:c.A424G:p.N142D,CEP57L1:NM_001350656:exon4:c.A424G:p.N142D,CEP57L1:NM_001350660:exon4:c.A10G:p.N4D,CEP57L1:NM_001350664:exon4:c.A10G:p.N4D,CEP57L1:NM_001350666:exon4:c.A376G:p.N126D,CEP57L1:NM_173830:exon4:c.A424G:p.N142D,CEP57L1:NM_001350652:exon5:c.A424G:p.N142D,CEP57L1:NM_001350655:exon5:c.A424G:p.N142D,CEP57L1:NM_001350657:exon5:c.A424G:p.N142D,CEP57L1:NM_001350659:exon5:c.A376G:p.N126D,CEP57L1:NM_001350665:exon5:c.A424G:p.N142D,CEP57L1:NM_001083535:exon6:c.A424G:p.N142D,CEP57L1:NM_001350653:exon6:c.A424G:p.N142D,CEP57L1:NM_001350658:exon6:c.A424G:p.N142D	.	516	1003	3	0	0	3	0.00149328	.	.	.	3947970	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.354	0.0770145388804	.	.	3.3e-05	0	0	0	0	1.501e-05	0	0.0002	2.59e-05	4	154602	rs774211869	5.496e-05	5.678e-05	5.198e-05	5.797e-05	0.0004	4.496e-05	4.165e-05	0.0003	0.0002	0	0	0	0	0	0.0002	4.067e-05	3.326e-05	0.0004	5.251e-05	5.249e-05	1.285e-05	9.397e-05	0.0010	2.555e-05	1.829e-05	0.0004	0.0003	2.405e-05	0	0	0	0	0	0	2.94e-05	0	0.0010	0.034	0.45756	D	0.094	0.51737	T	0.998	0.73220	D	0.929	0.71173	D	0.000082	0.51296	D	0.230201	0.839058	0.35037	D	2.045	0.56016	M	0.89	0.76430	T	-3.43	0.70191	D	0.452	0.49783	0.008	0.82411	D	0.464	0.79284	T	10	0.5962458	0.66658	D	0.077015	0.72669	D	0.354	0.67510	.	.	0.825815464524	0.82416	0.21213690567554733	0.21129	0.303287657907	0.32650	0.634644925594	0.57804	T	0.158351	0.50133	T	-0.308285	0.07899	T	-0.380283	0.35689	T	0.869776666164398	0.51970	D	0.842116	0.55722	T	0.3615976	0.57957	0.3780781	0.62893	0.3615976	0.57958	0.3780781	0.62893	-5.82	0.44748	T	.	.	0.293	0.58680	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.962456	0.58130	23.9	0.99780903722340686	0.86780	0.94029	0.59899	D	AEFBI	0.743202	0.68658	D	0.598367025493886	0.73071	5.906855	0.597484767125712	0.74757	6.191971	0.0413928077412656	0.14482	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.35	5.35	0.76297	5.238000	0.65190	11.052000	0.85313	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	14.982	0.70973	803	0.44167	Cep57 centrosome localisation domain;Cep57 centrosome localisation domain;Cep57 centrosome localisation domain;Cep57 centrosome localisation domain;Cep57 centrosome localisation domain;Cep57 centrosome localisation domain;Cep57 centrosome localisation domain;Cep57 centrosome localisation domain;Cep57 centrosome localisation domain;.;Cep57 centrosome localisation domain;Cep57 centrosome localisation domain;Cep57 centrosome localisation domain;Cep57 centrosome localisation domain;Cep57 centrosome localisation domain;Cep57 centrosome localisation domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	269.49	34	chr6	109150201	.	A	G	269.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.846;DP=189;ExcessHet=0;FS=1.707;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=1.3;SOR=0.368	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1176	6	0	1	0
chr6	109442859	109442859	C	G	exonic	SMPD2	.	nonsynonymous SNV	SMPD2:NM_003080:exon7:c.C599G:p.A200G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0637370280437	.	.	8.246e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs778089121	6.845e-06	6.841e-06	2.724e-06	1.101e-05	2.988e-05	3.46e-06	2.52e-06	8.4e-07	5.7e-07	2.988e-05	2.236e-05	0	0	0	0	3.6e-06	6.629e-05	0	1.314e-05	1.313e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.014	0.53172	D	0.04	0.50809	D	0.978	0.58756	D	0.715	0.54683	P	0.001392	0.39175	N	0.290535	0.999081	0.46032	D	2.61	0.76335	M	-1.3	0.79571	T	-2.7	0.57599	D	0.61	0.62696	-0.6457	0.62900	T	0.275	0.64681	T	10	0.7014289	0.72468	D	0.063737	0.69060	D	0.444	0.74657	0.474	0.55020	0.830055261655	0.82844	0.5918877920688371	0.59118	0.328025167496	0.34925	0.374230802059	0.21437	T	0.667678	0.90100	D	0.0662089	0.60383	T	-0.142672	0.59885	T	0.927268326282501	0.59002	D	0.689931	0.29934	T	0.4385189	0.63306	0.43231308	0.66821	0.4385189	0.63307	0.43231308	0.66821	-7.857	0.60091	D	.	.	0.257	0.49157	B	.	.	4.382973	0.67577	25.1	0.99660112443513538	0.77883	0.93741	0.59059	D	AEFDBCI	0.639467	0.61751	D	0.289873880723672	0.55635	3.727465	0.318463377199756	0.56626	3.826073	0.999999999911489	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.95	5.06	0.67838	4.421000	0.59598	5.922000	0.51181	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.320000	0.24970	0.0:0.8587:0.1413:0.0	15.095	0.71900	554	0.71839	Endonuclease/exonuclease/phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1503.44	36	chr6	109442859	.	C	G	1503.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.243;DP=331;ExcessHet=0;FS=4.136;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=0.211;SOR=0.891	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1345	6	0	1	0
chr6	109466273	109466273	C	T	exonic	ZBTB24	.	nonsynonymous SNV	ZBTB24:NM_014797:exon7:c.G1672A:p.D558N	Immunodeficiency-centromeric instability-facial anomalies syndrome-2, Autosomal recessive	0	1510	12	0	0	12	0.00395778	.	.	.	521280	not_provided|Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_2|ZBTB24-related_disorder	MedGen:C3661900|MONDO:MONDO:0013553,MedGen:C3279748,OMIM:614069,Orphanet:2268|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.099	0.00443151318148	0.0023	0.00139776	0.0025	0.0007	0.0030	0	0.0015	0.0037	0.0022	0.0005	0.0024191	374	154602	rs61731736	0.0027	0.0027	0.0028	0.0027	0.0061	0.0027	0.0026	0.0045	0.0039	0.0005	0.0026	0.0116	0	0.0013	0.0061	0.0029	0.0033	0.0005	0.0024	0.0024	0.0027	0.0021	0.0032	0.0022	0.0021	0.0028	0.0027	0.0006	0	0.0024	0.0107	0	0.0022	0.0170	0.0032	0.0061	0.0006	0.163	0.23450	T	0.269	0.22426	T	0.033	0.20350	B	0.012	0.16012	B	0.000004	0.62929	N	0.102760	0.974	0.39077	D	0.28	0.10031	N	2.87	0.10386	T	-1.01	0.26639	N	0.099	0.08088	-1.0026	0.29168	T	0.011	0.03949	T	10	0.005057752	0.00109	T	0.004432	0.10844	T	0.099	0.28413	.	.	0.167679373172	0.16340	0.4776154451295473	0.47681	0.168406635344	0.18989	0.437026292086	0.30171	T	0.012333	0.10860	T	-0.687007	0.00044	T	-0.762036	0.03040	T	0.0142797081524767	0.00284	T	0.822018	0.48145	T	0.053179946	0.10025	0.06708764	0.13832	0.065692656	0.14063	0.07455808	0.16323	-4.855	0.35225	T	.	.	0.163	0.35992	B	.	.	3.074357	0.41339	21.3	0.99801893830854504	0.88639	0.92542	0.55956	D	AEFDBCI	0.385491	0.46621	N	-0.174969276786347	0.34179	1.947773	0.00327527721614282	0.39867	2.370386	0.999999999947417	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.06	5.17	0.70848	3.705000	0.54553	4.033000	0.41356	0.599000	0.40250	0.990000	0.36992	0.999000	0.35428	0.966000	0.53164	0.0:0.9277:0.0:0.0723	14.532	0.67521	555	0.71762	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.008056	0.025253	0.004076	0.005848	0.000000	0.000000	0.015244	0.000000	0.07143	2342.44	78	chr6	109466273	.	C	T	2342.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.71;DP=494;ExcessHet=0;FS=4.461;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=0.227;SOR=1.042	GT:AD:DP:GQ:PL	0/1:82,90:172:99:2353,0,1937	6	0	1	0
chr6	109564193	109564193	A	G	exonic	AK9	.	nonsynonymous SNV	AK9:NM_001145128:exon23:c.T2522C:p.L841P	.	439	1077	6	0	0	6	0.00277778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	.	.	0.00439297	0.0018	0.0009	0.0098	0.0129	0.1176	0.0008	0.0158	0.0009	0.0007633	118	154602	rs117513176	0.0027	0.0025	0.0028	0.0025	0.0204	0.0026	0.0026	0.0192	0.0187	0.0002	0.0142	0	0.0204	0.0354	0.0004	0.0004	0.0036	0.0011	0.0049	0.0050	0.0039	0.0060	0.0131	0.0046	0.0045	0.0106	0.0097	0.0006	0	0.0113	0	0.0131	0.0359	0	0.0014	0.0061	0.0004	0.273	0.15876	T	0.282	0.21545	T	0.347	0.33585	B	0.063	0.27082	B	.	.	.	.	1	0.18878	N	0.345	0.11182	N	-0.03	0.63077	T	0.24	0.04533	N	0.388	0.42931	-1.0997	0.04128	T	0.025	0.10553	T	8	0.004540056	0.00094	T	.	.	.	0.140	0.37593	.	.	0.115124310173	0.11017	0.4780451427179059	0.47724	0.248207255185	0.27377	0.326635837555	0.14426	T	0.026557	0.19627	T	-0.494569	0.00613	T	-0.470217	0.25493	T	0.00900671051196357	0.00113	T	0.260474	0.04175	T	0.044268724	0.07047	0.06217126	0.12121	0.044268724	0.07046	0.06217126	0.12121	-5.159	0.38522	T	.	.	0.311	0.53831	B	.	.	-0.314006	0.02557	0.310	0.7322015313087713	0.10250	0.00838	0.03362	N	AEFI	0.037292	0.05105	N	-1.72477595083056	0.00757	0.03271586	-1.86877940210526	0.00563	0.02499288	0.999714364035838	0.42101	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.92	-11.8	0.00026	-1.435000	0.02529	-5.819000	0.01586	-0.651000	0.04387	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3607:0.1861:0.1006:0.3526	1.027	0.01434	684	0.59539	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004702	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.016667	0.07143	872.53	33	chr6	109564193	.	A	G	872.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.025;DP=239;ExcessHet=0;FS=0.939;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.31;SOR=0.536	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1111	6	0	1	0
chr6	116106274	116106274	G	A	exonic	NT5DC1	.	nonsynonymous SNV	NT5DC1:NM_152729:exon2:c.G124A:p.V42I	.	821	699	2	0	0	2	0.00142857	.	.	.	2394372	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.137	0.0100888927446	.	0.000199681	0.0001	0	0	0	0	0	0	0.0010	0.00011	17	154602	rs562689401	6.064e-05	6.089e-05	3.893e-05	8.246e-05	0.0011	4.975e-05	4.647e-05	0.0006	0.0005	3.036e-05	0	0	0	0	0.0011	1.378e-05	5.051e-05	0.0007	3.313e-05	3.297e-05	3.878e-05	2.718e-05	0.0004	1.269e-05	8.04e-06	7.381e-05	3.063e-05	2.429e-05	0	0	0	0	0	0	1.474e-05	0.0005	0.0004	0.028	0.46129	D	0.378	0.32675	T	0.968	0.56581	D	0.778	0.57212	P	0.000000	0.84330	D	0.000000	0.999516	0.47363	D	2.18	0.61292	M	1.66	0.27486	T	-0.58	0.19085	N	0.386	0.42737	-1.1026	0.03790	T	0.076	0.30397	T	10	0.07440767	0.11370	T	0.010089	0.26213	T	0.137	0.36984	0.459	0.52590	0.250039746154	0.24611	0.6091206718017386	0.60844	0.41639062897	0.42283	0.524206757545	0.42219	T	0.032503	0.24190	T	-0.378527	0.03183	T	-0.402009	0.33151	T	0.253540268477387	0.23031	T	0.907909	0.67446	D	0.15896383	0.35735	0.17435384	0.39825	0.15896383	0.35735	0.17435384	0.39824	-7.453	0.57279	T	0.2578541211828788	0.34843	0.135	0.37083	B	.;.	.;.	3.690617	0.52580	23.3	0.99796489984924253	0.88194	0.96071	0.67401	D	AEFDBI	0.857707	0.77511	D	0.478591799719864	0.65840	4.873534	0.473064123397342	0.66210	4.922619	0.999999973665892	0.74766	0.50712	0.20391	0	0.685571	0.66316	0	0.658105	0.52812	0	0.631177	0.49321	0	.	.	5.3	4.42	0.52775	7.401000	0.79199	7.226000	0.57860	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8486:0.1514	14.150	0.64912	773	0.48803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	265.83	24	chr6	116106274	.	G	A	265.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.889;DP=160;ExcessHet=0;FS=1.441;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=-0.743;SOR=1.022	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,927	6	0	1	0
chr6	116253777	116253777	C	T	exonic	TSPYL4	.	nonsynonymous SNV	TSPYL4:NM_021648:exon1:c.G232A:p.A78T	.	429	1041	49	3	0	55	0.025737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.0044	0.0129792	0.0229	0.0009	0.0059	0.0071	0.0325	0.0139	0.0450	0.0669	0.0106984	1654	154602	rs149060725	0.0084	0.0084	0.0070	0.0097	0.0493	0.0082	0.0082	0.0481	0.0476	0.0008	0.0025	0.0255	0.0057	0.0167	0.0155	0.0049	0.0100	0.0493	0.0068	0.0068	0.0056	0.0080	0.0493	0.0064	0.0063	0.0441	0.0422	0.0009	0.0011	0.0030	0.0274	0.0052	0.0183	0.0068	0.0055	0.0080	0.0493	0.305	0.14256	T	0.207	0.26969	T	0.161	0.28372	B	0.118	0.32088	B	.	.	.	.	1	0.08975	N	2.175	0.60977	M	1.77	0.25841	T	-0.83	0.22727	N	0.022	0.00372	-0.9894	0.32753	T	0.025	0.10643	T	9	0.0021468103	0.00031	T	.	.	.	0.008	0.00669	.	.	.	.	0.09797772909747697	0.09728	0.363409992902	0.37971	0.496496468782	0.38339	T	0.013936	0.11958	T	-0.631555	0.00093	T	-0.643456	0.09419	T	0.00689910877604376	0.00078	T	0.455254	0.13018	T	0.028059915	0.02088	0.05842673	0.10794	0.028059915	0.02087	0.05842673	0.10793	-4.297	0.28135	T	.	.	0.075	0.05535	B	.	.	0.426294	0.07970	4.680	0.96140950977137662	0.28835	0.02820	0.07555	N	ALL	0.065604	0.12805	N	-0.80031155198662	0.13302	0.6543555	-0.899478280885214	0.12106	0.6208205	0.999999751623875	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.08	1.13	0.19758	-0.143000	0.10278	0.963000	0.23005	0.524000	0.24156	0.000000	0.06391	0.441000	0.24904	0.126000	0.19410	0.1841:0.4163:0.3996:0.0	6.892	0.23415	559	0.71409	.	.	.	.	.	rs149060725	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016162	0.015306	0.013587	0.000000	0.000000	0.017241	0.006173	0.045455	0.1429	814.24	44	chr6	116253777	.	C	T	814.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.999;DP=379;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=8.95;ReadPosRankSum=-0.707;SOR=0.771	GT:AD:DP:GQ:PL	0/0:77,0:77:99:0,120,1800	5	0	2	0
chr6	117394232	117394232	C	G	exonic	ROS1	.	nonsynonymous SNV	ROS1:NM_002944:exon10:c.G1094C:p.G365A,ROS1:NM_001378891:exon11:c.G1121C:p.G374A,ROS1:NM_001378902:exon11:c.G1121C:p.G374A	.	428	1081	12	1	0	14	0.00643382	.	.	YES	389125	Abnormal_brain_morphology|not_specified|not_provided|ROS1-related_disorder	Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.589	0.0324366346359	0.0004	0.00199681	0.0015	0.0002	8.747e-05	0	0	0.0005	0.0078	0.0084	0.0013713	212	154602	rs61743088	0.0011	0.0012	0.0008	0.0014	0.0093	0.0011	0.0011	0.0087	0.0085	0.0002	0.0003	0.0003	0	0	0.0035	0.0007	0.0014	0.0093	0.0008	0.0008	0.0007	0.0010	0.0104	0.0007	0.0007	0.0081	0.0073	9.626e-05	0	0.0012	0.0006	0	0	0.0034	0.0007	0.0014	0.0104	0.269	0.16628	T	0.0	0.92824	D	0.952	0.54136	P	0.643	0.52216	P	0.000003	0.62929	D	0.000000	0.994478	0.42296	D	2.625	0.76847	M	-2.81	0.91134	D	-1.12	0.28906	N	0.272	0.59393	0.191	0.85756	D	0.650	0.87788	D	10	0.011647165	0.00254	T	0.032437	0.54263	D	0.589	0.83582	.	.	0.651862591771	0.64896	0.6753978926957138	0.67477	0.212456804607	0.23743	0.450533330441	0.32016	T	0.094482	0.39426	T	-0.192162	0.21942	T	-0.0428306	0.67510	D	0.665908217430115	0.39155	D	0.812119	0.46368	T	0.23141274	0.45912	0.2634651	0.52152	0.18795554	0.40273	0.21625353	0.46244	-3.541	0.17010	T	0.3415062108265459	0.43922	0.228	0.46013	B	.;.	.;.	4.229669	0.64035	24.7	0.99734734057097241	0.83047	0.88586	0.48583	D	AEFBI	0.539505	0.55645	D	0.487450922408856	0.66355	4.939554	0.522712078291178	0.69522	5.372288	0.944412870597998	0.27614	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.12	5.12	0.69459	4.968000	0.63441	5.537000	0.48860	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.43	0.90568	719	0.55657	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.015152	0.07143	721.63	33	chr6	117394232	.	C	G	721.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.536;DP=248;ExcessHet=0;FS=0.887;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=-1.327;SOR=0.63	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr6	118894981	118894989	GCGACCCCG	-	exonic	MCM9	.	nonframeshift deletion	MCM9:NM_001378365:exon8:c.1487_1495del:p.P496_S498del	Ovarian dysgenesis 4, Autosomal recessive	1104	410	3	5	0	13	0.0156062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00998403	.	.	.	.	.	.	.	.	0.00146	38	26028	rs199897142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0075	0.0075	0.0075	0.0076	0.0286	0.0072	0.0070	0.0247	0.0232	0.0020	0	0.0096	0.0133	0.0056	0.0013	0.0274	0.0098	0.0062	0.0286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	166.79	.	chr6	118894980	.	AGCGACCCCG	A	166.79	.	AC=2;AF=0.25;AN=8;DP=10;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;QD=27.95;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	3	1	0	3
chr6	121292069	121292069	C	A	exonic	TBC1D32	.	nonsynonymous SNV	TBC1D32:NM_001367760:exon12:c.G1356T:p.K452N,TBC1D32:NM_152730:exon12:c.G1356T:p.K452N,TBC1D32:NM_001367759:exon13:c.G1356T:p.K452N	.	580	940	2	0	0	2	0.0010627	.	.	.	2829602	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.102	0.0110713668723	8.6e-05	.	7.041e-05	0	0.0003	0	0	8.054e-05	0	0	7.12e-05	11	154602	rs369009845	8.846e-05	9.44e-05	8.028e-05	9.674e-05	0.0004	7.556e-05	7.096e-05	0.0001	8.53e-05	6.186e-05	0.0002	0	0	0	0.0004	8.364e-05	0.0001	0.0002	9.21e-05	9.196e-05	7.714e-05	0.0001	0.0001	5.534e-05	4.369e-05	5.845e-05	4.242e-05	7.243e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0	0.145	0.25154	T	0.03	0.54159	D	0.992	0.64738	D	0.795	0.57940	P	0.000115	0.50451	D	0.170984	0.902277	0.36201	D	2.38	0.68558	M	1.78	0.25678	T	-1.83	0.42957	N	0.339	0.38027	-1.0989	0.04227	T	0.062	0.25744	T	10	0.16288316	0.30514	T	0.011071	0.28311	T	0.102	0.29158	0.39	0.41279	0.405560941015	0.40167	0.21220673859131076	0.21136	0.2501032942	0.27591	.	.	.	0.07007	0.33869	T	-0.400849	0.02286	T	-0.534133	0.18876	T	0.354783952236176	0.27205	T	0.867113	0.56785	D	0.107198134	0.25348	0.15424585	0.36210	0.107198134	0.25348	0.15424585	0.36209	-1.995	0.03347	T	.	.	0.230	0.46214	B	.;.	.;.	3.074210	0.41330	21.3	0.99867993887253859	0.94547	0.82884	0.42053	D	AEFI	0.197763	0.32466	N	0.377621285722357	0.60211	4.207597	0.342079867931801	0.58033	3.971527	2.22691276645827E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.9	2.75	0.31439	1.017000	0.29591	0.390000	0.17879	0.599000	0.40250	1.000000	0.71638	0.419000	0.24798	0.997000	0.79791	0.1093:0.6899:0.0:0.2008	8.97	0.35063	743	0.52768	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	156.27	29	chr6	121292069	.	C	A	156.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.227;DP=178;ExcessHet=0;FS=2.158;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-1.495;SOR=1.609	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,980	5	0	1	1
chr6	121447061	121447061	A	G	exonic	GJA1	.	nonsynonymous SNV	GJA1:NM_000165:exon2:c.A214G:p.I72V	Atrioventricular septal defect 3, Autosomal dominant;Craniometaphyseal dysplasia, autosomal recessive, Autosomal recessive;Erythrokeratodermia variabilis et progressiva, Autosomal recessive, Autosomal dominant;Hypoplastic left heart syndrome 1, Autosomal recessive;Oculodentodigital dysplasia, Autosomal dominant;Oculodentodigital dysplasia, autosomal recessive, Autosomal recessive;Palmoplantar keratoderma with congenital alopecia, Autosomal dominant;Syndactyly, type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.787	0.250974127698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.053e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.01	0.65728	D	0.908	0.50127	P	0.669	0.53077	P	0.001142	0.40056	N	0.240936	0.999999	0.58761	D	1.865	0.49290	L	-5.54	0.99184	D	-0.92	0.24676	N	0.498	0.53093	1.093	0.99378	D	0.938	0.97961	D	10	0.8795201	0.87257	D	0.250974	0.89113	D	0.787	0.92948	0.7	0.83684	0.943663086211	0.94307	0.8918822313251208	0.89158	0.856064958791	0.68761	0.738846123219	0.72803	T	0.763452	0.93610	D	0.34166	0.85945	D	0.252994	0.85761	D	0.803063251343763	0.46562	D	0.90391	0.66280	D	0.38390532	0.59598	0.3327721	0.59121	0.38390532	0.59598	0.3327721	0.59121	-6.188	0.47826	T	0.3332976928640002	0.43127	0.176	0.38426	B	.;.;.;.;.	.;.;.;.;.	3.909359	0.56999	23.8	0.99754698206370063	0.84537	0.97121	0.72812	D	AEFBCI	0.942640	0.94747	D	0.628616182966142	0.74992	6.227793	0.663610123529025	0.79629	7.123	0.999999999992006	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.5	5.5	0.81386	9.325000	0.96006	9.424000	0.80768	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	1.0:0.0:0.0:0.0	15.605	0.76411	605	0.67457	Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	68.06	35	chr6	121447061	.	A	G	68.06	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.713;DP=402;ExcessHet=0;FS=39.474;MLEAC=1;MLEAF=0.083;MQ=57.13;MQRankSum=-3.482;QD=0.6;ReadPosRankSum=2.18;SOR=5.549	GT:AD:DP:GQ:PL	0/0:134,0:134:4:0,4,3105	5	0	1	1
chr6	123352527	123352527	-	T	exonic	TRDN	.	stoploss	TRDN:NM_001251987:exon21:c.1383dupA:p.*462delinsMKEVDIIFFRKTTTCGGKHWIQTGGRQ*	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, Autosomal recessive	6	1512	4	0	0	4	0.001321	.	.	.	229397	Catecholaminergic_polymorphic_ventricular_tachycardia_1|not_specified	MONDO:MONDO:0011484,MedGen:C1631597,OMIM:604772,Orphanet:3286|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0018	0.00179712	0.0007	0.0043	9.741e-05	0.0003	0	0.0003	0.0012	0.0008	0.0003842	10	26028	rs537388823	0.0004	0.0011	0.0004	0.0004	0.0056	0.0004	0.0004	0.0049	0.0047	0.0056	0.0005	7.874e-05	0.0001	1.909e-05	0.0004	0.0003	0.0006	0.0003	0.0015	0.0015	0.0015	0.0015	0.0047	0.0013	0.0013	0.0042	0.0040	0.0047	0	0.0003	0	0.0002	9.615e-05	0	0.0003	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	34.4	33	chr6	123352527	.	A	AT	34.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.674;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=0;SOR=0.105	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1283	6	0	1	0
chr6	125229167	125229167	G	A	exonic	TPD52L1	.	nonsynonymous SNV	TPD52L1:NM_001003395:exon3:c.G98A:p.R33K,TPD52L1:NM_001003396:exon3:c.G185A:p.R62K,TPD52L1:NM_001003397:exon3:c.G185A:p.R62K,TPD52L1:NM_001292026:exon3:c.G98A:p.R33K,TPD52L1:NM_001300994:exon3:c.G185A:p.R62K,TPD52L1:NM_001318903:exon3:c.G185A:p.R62K,TPD52L1:NM_001318907:exon3:c.G98A:p.R33K,TPD52L1:NM_003287:exon3:c.G185A:p.R62K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	.	0.0046	0.00459265	0.0012	0.0137	0.0004	0	0	3.003e-05	0	0	0.0012354	191	154602	rs6905231	0.0004	0.0004	0.0005	0.0004	0.0140	0.0004	0.0004	0.0129	0.0125	0.0140	0.0008	0	0	0	0.0010	2.879e-05	0.0010	0	0.0039	0.0039	0.0038	0.0040	0.0130	0.0036	0.0035	0.0121	0.0118	0.0130	0	0.0026	0	0	0	0.0102	2.94e-05	0.0028	0	0.671	0.05808	T	0.967	0.02961	T	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.042042	0.760247	0.29546	N	-0.25	0.03863	N	2.81	0.10975	T	0.28	0.07882	N	0.138	0.13626	-0.9062	0.47308	T	0.003	0.01092	T	10	0.00850904	0.00193	T	.	.	.	0.106	0.30130	.	.	0.124217242631	0.12060	0.22435078041691697	0.22350	0.445439590929	0.44433	0.461596697569	0.33529	T	0.01099	0.16335	T	-0.629661	0.00096	T	-0.664917	0.07938	T	0.0111601650276108	0.00163	T	0.792521	0.46941	T	0.097018965	0.22863	0.10154748	0.24314	0.097018965	0.22862	0.10154748	0.24313	-3.61	0.36403	T	.	.	0.058	0.04119	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	1.961961	0.24919	16.57	0.91651042088863732	0.20939	0.77188	0.37924	D	AEFDBIJ	0.511818	0.54029	D	-0.429738424448356	0.24431	1.319176	-0.192451702055162	0.31812	1.803921	0.997920346987595	0.36199	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.41	3.26	0.36471	3.031000	0.49417	3.810000	0.39905	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.4414:0.0:0.5586:0.0	4.419	0.10899	921	0.19240	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.005051	0.002717	0.011696	0.000000	0.000000	0.000000	0.000000	0.07143	426.53	34	chr6	125229167	.	G	A	426.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.094;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=-0.22;SOR=0.56	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1134	6	0	1	0
chr6	125927739	125927739	C	T	exonic	NCOA7	.	nonsynonymous SNV	NCOA7:NM_001199622:exon4:c.C431T:p.T144I,NCOA7:NM_001199621:exon13:c.C2255T:p.T752I,NCOA7:NM_001122842:exon14:c.C2567T:p.T856I,NCOA7:NM_181782:exon14:c.C2600T:p.T867I,NCOA7:NM_001199619:exon15:c.C2600T:p.T867I,NCOA7:NM_001199620:exon16:c.C2600T:p.T867I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.310	0.0337695859575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.046049	0.999991	0.58761	D	2.645	0.77386	M	0.85	0.47130	T	-4.55	0.78553	D	0.593	0.61341	-0.3737	0.72848	T	0.322	0.69099	T	10	0.5296869	0.63112	D	0.03377	0.55213	D	0.310	0.63162	0.542	0.65446	0.110392049598	0.10638	0.7361813659560693	0.73563	0.493758875756	0.47968	0.727325379848	0.71116	T	0.326126	0.69677	T	0.0912494	0.63330	D	-0.106703	0.62872	T	0.981613278388977	0.74012	D	0.966203	0.94055	D	0.912213	0.92502	0.8593696	0.92136	0.912213	0.92503	0.8593696	0.92136	-7.026	0.57596	T	.	.	0.909	0.86127	P	.;.;.;.;.	.;.;.;.;.	4.862997	0.79599	27.1	0.99875501728492933	0.95244	0.87302	0.46800	D	AEFBCI	0.314837	0.41958	N	0.790928341836536	0.85532	8.604846	0.755157991166596	0.86543	8.92262	0.999999978872137	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	4.226000	0.58405	7.713000	0.66906	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.071	0.97721	817	0.41665	TLDc domain|TLDc domain;TLDc domain|TLDc domain;.;TLDc domain|TLDc domain;TLDc domain|TLDc domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	84.96	109	chr6	125927739	.	C	T	84.96	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.737;DP=668;ExcessHet=0;FS=131.069;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=0.792;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,34:215:90:0|1:125927739_C_T:90,0,5971:125927739	6	0	1	0
chr6	127812953	127812953	A	G	exonic	THEMIS	.	nonsynonymous SNV	THEMIS:NM_001010923:exon4:c.T1688C:p.V563A,THEMIS:NM_001164685:exon4:c.T1688C:p.V563A,THEMIS:NM_001164687:exon4:c.T1583C:p.V528A,THEMIS:NM_001318531:exon5:c.T1397C:p.V466A	.	.	.	.	.	.	.	.	.	.	.	3913541	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.00287738432838	.	.	3.306e-05	0	0	0	0	6.009e-05	0	0	2.59e-05	4	154602	rs200347578	3.694e-05	3.694e-05	4.22e-05	3.163e-05	3.597e-05	2.894e-05	2.592e-05	2.711e-05	2.387e-05	0	0	0	0	0.0002	0	3.597e-05	6.623e-05	0	4.603e-05	4.598e-05	7.712e-05	1.346e-05	7.351e-05	2.111e-05	1.528e-05	2.847e-05	1.858e-05	2.416e-05	0	0	0	0	9.429e-05	0	7.351e-05	0	0	0.279	0.15665	T	0.755	0.04754	T	0.001	0.07471	B	0.001	0.04355	B	0.472600	0.12259	N	0.746260	1	0.08975	N	0.625	0.15840	N	2.31	0.16794	T	-0.04	0.09796	N	0.054	0.06190	-0.9185	0.45756	T	0.006	0.01944	T	10	0.04716736	0.04001	T	0.002877	0.06074	T	0.022	0.04323	0.083	0.00760	0.0551355673512	0.04727	0.09165616326916426	0.09098	.	.	0.261549413204	0.05076	T	0.049779	0.28405	T	-0.499648	0.00574	T	-0.799121	0.01924	T	0.148938238620758	0.17018	T	0.421058	0.11199	T	0.026660794	0.01752	0.032786444	0.02069	0.026660794	0.01752	0.032786444	0.02068	-3.659	0.19067	T	.	.	0.067	0.05017	B	.;.;.;.;.	.;.;.;.;.	-0.051460	0.03940	0.878	0.49511338529324284	0.04222	0.01904	0.05833	N	AEFBI	0.038130	0.05350	N	-1.46776169172192	0.02081	0.09152001	-1.4746933765039	0.02553	0.1176375	5.01008312137999E-4	0.07150	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.96	-3.85	0.03964	0.051000	0.14025	0.171000	0.15519	-0.562000	0.04833	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2202:0.1405:0.5024:0.1369	4.342	0.10551	592	0.68746	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2405.44	35	chr6	127812953	.	A	G	2405.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.27;DP=384;ExcessHet=0;FS=3.399;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-1.382;SOR=0.487	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1117	6	0	1	0
chr6	129393070	129393070	G	A	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_000426:exon37:c.G5260A:p.V1754M,LAMA2:NM_001079823:exon37:c.G5260A:p.V1754M	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.0444655069319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	3.42e-06	1.362e-06	4.126e-06	0.0001	6.4e-07	4.3e-07	3.983e-05	2.374e-05	0.0001	0	0	0	0	0	0	0	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	4.827e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	D	0.000000	0.999481	0.47237	D	2.485	0.72352	M	0.79	0.49068	T	-2.3	0.51157	N	0.682	0.71143	-0.8615	0.51155	T	0.143	0.46550	T	10	0.7876678	0.78386	D	0.044466	0.61502	D	0.376	0.69443	0.537	0.64730	0.546736107678	0.54328	0.37258434366134296	0.37172	0.470433313349	0.46317	0.531397461891	0.43232	T	0.032722	0.40951	T	-0.0430453	0.45497	T	-0.299608	0.44767	T	0.976055681705475	0.71208	D	0.848015	0.52922	T	0.2976442	0.52692	0.41209745	0.65422	0.2976442	0.52692	0.41209745	0.65423	-5.322	0.40160	T	0.6525604153290325	0.72491	0.224	0.45532	B	.;.;.	.;.;.	3.909213	0.56999	23.8	0.99883655523635595	0.95892	0.97489	0.75080	D	AEFDBI	0.878090	0.80313	D	0.428719168083162	0.63008	4.526423	0.388967087753396	0.60882	4.281191	0.168059229038432	0.17694	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.52	4.65	0.57626	7.272000	0.77907	8.570000	0.77602	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.049000	0.15107	0.0718:0.0:0.9282:0.0	14.171	0.65049	883	0.28872	Laminin alpha, domain I;Laminin alpha, domain I;Laminin alpha, domain I	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	171.27	11	chr6	129393070	.	G	A	171.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.25;DP=123;ExcessHet=0;FS=8.929;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=-0.395;SOR=3.126	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,737	5	0	1	1
chr6	131620645	131620645	C	A	exonic	MED23	.	nonsynonymous SNV	MED23:NM_001270521:exon7:c.G580T:p.G194C,MED23:NM_001270522:exon7:c.G580T:p.G194C,MED23:NM_001376517:exon7:c.G580T:p.G194C,MED23:NM_001376518:exon7:c.G508T:p.G170C,MED23:NM_001376519:exon7:c.G580T:p.G194C,MED23:NM_001376520:exon7:c.G580T:p.G194C,MED23:NM_001376521:exon7:c.G580T:p.G194C,MED23:NM_001376522:exon7:c.G580T:p.G194C,MED23:NM_001376523:exon7:c.G580T:p.G194C,MED23:NM_001376524:exon7:c.G580T:p.G194C,MED23:NM_004830:exon7:c.G580T:p.G194C,MED23:NM_015979:exon7:c.G580T:p.G194C	Mental retardation, autosomal recessive 18, Autosomal recessive	19	1502	1	0	0	1	0.000332779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	0.113463627338	.	.	8.31e-06	0	0	0	0	1.511e-05	0	0	6.5e-06	1	154602	rs201372314	7.537e-06	7.525e-06	2.727e-06	1.239e-05	0.0002	4.04e-06	2.96e-06	3.1e-06	2.24e-06	0	0	3.829e-05	0	0	0.0002	7.206e-06	0	1.16e-05	6.578e-06	6.569e-06	0	1.347e-05	6.557e-05	0	0	.	.	0	0	6.557e-05	0	0	0	0	0	0	0	0.02	0.50132	D	0.031	0.59159	D	0.997	0.90584	D	0.818	0.88582	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0	0.06538	N	-1.08	0.77078	T	-1.69	0.50502	N	0.883	0.88137	-0.1036	0.80016	T	0.401	0.75230	T	10	0.77302897	0.77235	D	0.113464	0.79198	D	0.505	0.78662	0.377	0.39156	0.709341982931	0.70680	0.791310824283721	0.79083	0.615115748382	0.56003	0.796740949154	0.81467	T	0.369568	0.73426	T	0.330199	0.85180	D	0.236531	0.84985	D	0.618167579174042	0.37131	D	0.950605	0.88539	D	0.3991597	0.60674	0.20479648	0.44620	0.3991597	0.60675	0.20479648	0.44619	-4.58	0.32159	T	.	.	0.341	0.64150	A	.;.;.;.;.;.	.;.;.;.;.;.	5.167959	0.86617	29.0	0.99616976442349814	0.75172	0.99636	0.98212	D	AEFBI	0.910620	0.86878	D	0.581970311938036	0.72050	5.745098	0.644585974875983	0.78208	6.830182	0.999999998014974	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	7.568000	0.81546	7.637000	0.63009	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	19.450	0.94856	844	0.36711	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	124.83	20	chr6	131620645	.	C	A	124.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.55;DP=137;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.9;MQRankSum=0;QD=8.32;ReadPosRankSum=-0.865;SOR=0.527	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,993	6	0	1	0
chr6	131693564	131693564	C	T	exonic	ENPP3	.	nonsynonymous SNV	ENPP3:NM_005021:exon15:c.C1352T:p.A451V	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.0445526449192	.	.	3.295e-05	0	0	0	0	4.496e-05	0	6.057e-05	2.59e-05	4	154602	rs762082474	3.284e-05	3.283e-05	3.949e-05	2.613e-05	0.0005	2.544e-05	2.249e-05	0.0001	7.544e-05	0	0	0	0	0	0.0005	2.968e-05	4.969e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.023	0.48186	D	0.09	0.40267	T	0.96	0.55278	D	0.764	0.56591	P	0.000237	0.47286	D	0.146398	0.998695	0.45291	D	2.27	0.64531	M	-0.71	0.72889	T	-3.45	0.67589	D	0.565	0.58883	-0.2855	0.75391	T	0.358	0.72045	T	10	0.47347283	0.60003	T	0.044553	0.61547	D	0.399	0.71321	0.511	0.60846	0.784071616257	0.78207	0.8078388473886524	0.80738	0.110544938361	0.12480	0.519361793995	0.41537	T	0.296343	0.66898	T	-0.153753	0.27726	T	-0.278336	0.46973	T	0.868164837360382	0.51814	D	0.927007	0.73102	D	0.46151167	0.64765	0.23648003	0.48921	0.46151167	0.64765	0.23648003	0.48920	-8.433	0.63984	D	.	.	0.160	0.42022	B	.;.;.	.;.;.	4.037467	0.59751	24.1	0.99899527844550939	0.97199	0.86596	0.45909	D	AEFDBI	0.427788	0.49159	N	0.532557980882283	0.69028	5.299053	0.506557466790013	0.68431	5.218988	0.959939086127973	0.28457	0.487112	0.14033	0	0.59043	0.45803	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.8	5.8	0.92081	3.381000	0.52188	4.685000	0.44339	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.596000	0.31288	0.0:0.9218:0.0:0.0782	12.881	0.57410	872	0.31118	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1531.46	34	chr6	131693564	.	C	T	1531.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.42;DP=337;ExcessHet=0;FS=3.736;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=2.18;SOR=0.625	GT:AD:DP:GQ:PL	0/1:84,71:155:99:1542,0,1920	6	0	1	0
chr6	131708878	131708878	A	G	exonic	CTAGE9	.	nonsynonymous SNV	CTAGE9:NM_001145659:exon1:c.T2140C:p.F714L	.	.	.	.	.	.	.	.	.	.	.	3426192	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.048	0.00807219457085	.	.	.	.	.	.	.	.	.	.	.	.	.	rs898403898	1.369e-06	1.369e-06	2.725e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.658e-05	0	6.744e-06	6.615e-06	0	1.381e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.012	0.54683	D	0.712	0.05488	T	0.268	0.31720	B	0.187	0.36167	B	.	.	.	.	1	0.08975	N	2.72	0.79541	M	3.38	0.05778	T	-1.94	0.45042	N	0.079	0.05414	-0.9635	0.38507	T	0.011	0.03949	T	6	0.12795904	0.24338	T	0.008072	0.21393	T	0.048	0.13305	0.426	0.47185	0.0666544352282	0.05500	0.1378565792480481	0.13709	.	.	0.588655352592	0.51304	T	0.067415	0.33196	T	-0.334972	0.05745	T	-0.71894	0.04847	T	0.165560904952844	0.18273	T	0.808919	0.45897	T	0.15243886	0.34605	0.3018385	0.56215	0.15243886	0.34604	0.3018385	0.56215	-3.329	0.14113	T	.	.	0.719	0.73763	P	.	.	1.619812	0.20688	14.87	0.81047614322779293	0.13494	0.00215	0.01220	N	AEFI	0.046014	0.07591	N	-0.538160230853158	0.20857	1.102619	-0.69074723615822	0.17191	0.913005	7.69288211797132E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.727000	0.25667	0.497000	0.18957	.	.	0.856000	0.30544	0.000000	0.08366	.	.	.	.	.	878	0.29785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	919.44	35	chr6	131708878	.	A	G	919.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.047;DP=284;ExcessHet=0;FS=0.818;MLEAC=1;MLEAF=0.071;MQ=38.34;MQRankSum=-0.603;QD=10.82;ReadPosRankSum=0.387;SOR=0.833	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	6	0	1	0
chr6	132538558	132538560	CAG	-	exonic	TAAR9	.	nonframeshift deletion	TAAR9:NM_175057:exon1:c.269_271del:p.T90_V91delinsM	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.0001	0	0	0	0	0.0023	0.0149	3.84e-05	1	26028	rs757617346	0.0013	0.0013	0.0008	0.0018	0.0204	0.0012	0.0012	0.0196	0.0193	6.047e-05	2.29e-05	0	5.047e-05	0	0.0005	2.53e-05	0.0015	0.0204	0.0008	0.0009	0.0004	0.0014	0.0250	0.0007	0.0007	0.0214	0.0200	7.221e-05	0	0.0003	0	0	0	0	1.471e-05	0.0005	0.0250	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2667.4	34	chr6	132538557	.	ACAG	A	2667.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.852;DP=413;ExcessHet=0;FS=5.506;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21;ReadPosRankSum=-0.319;SOR=1.217	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	6	0	1	0
chr6	132538562	132538562	G	-	exonic	TAAR9	.	frameshift deletion	TAAR9:NM_175057:exon1:c.273delG:p.R92Gfs*47	.	426	1072	23	1	0	25	0.011526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1e-05	.	0.0036	0.0001	0.0002	0.0001	0	0.0002	0.0035	0.0305	0.0001153	3	26028	rs748653127	0.0020	0.0020	0.0012	0.0028	0.0311	0.0019	0.0019	0.0301	0.0297	9.101e-05	9.225e-05	0	5.048e-05	0	0.0051	8.411e-05	0.0022	0.0311	0.0012	0.0012	0.0006	0.0018	0.0345	0.0011	0.0010	0.0303	0.0286	7.221e-05	0.0011	0.0003	0	0.0002	0	0	7.353e-05	0.0019	0.0345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002518	0.000000	0.000000	0.002924	0.000000	0.008621	0.003049	0.011364	0.07143	2667.4	34	chr6	132538561	.	TG	T	2667.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.154;DP=410;ExcessHet=0;FS=5.506;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21;ReadPosRankSum=-0.228;SOR=1.217	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	6	0	1	0
chr6	132538563	132538563	A	T	exonic	TAAR9	.	nonsynonymous SNV	TAAR9:NM_175057:exon1:c.A274T:p.R92W	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0001	0	0	0	0	0.0023	0.0151	3.84e-05	1	26028	rs756062422	0.0013	0.0013	0.0008	0.0018	0.0206	0.0012	0.0012	0.0198	0.0195	6.115e-05	2.349e-05	0	5.053e-05	0	0.0005	2.445e-05	0.0015	0.0206	0.0008	0.0009	0.0004	0.0013	0.0253	0.0007	0.0007	0.0216	0.0202	7.231e-05	0	0.0003	0	0	0	0	1.471e-05	0.0005	0.0253	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	.	.	.	2.67	0.78151	M	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.01093024	0.00241	T	.	.	.	.	.	.	.	0.352910780287	0.34901	0.23674022207665932	0.23589	.	.	0.324220895767	0.14060	T	0.094518	0.39432	T	-0.207097	0.19789	T	-0.0624375	0.66162	T	.	.	.	0.907309	0.67223	D	0.46154478	0.64767	0.51160985	0.71777	0.46154478	0.64767	0.51160985	0.71778	-9.078	0.68197	D	.	.	0.362	0.57324	A	.	.	3.832127	0.55402	23.6	0.99863144088850286	0.94184	0.28688	0.23622	N	AEFGBI	0.361028	0.45079	N	.	.	.	.	.	.	4.79031286539793E-4	0.07095	0.06567	0.01388	0	0.085267	0.02369	0	0.063197	0.01477	0	0.075334	0.01956	0	.	.	5.25	1.26	0.20534	0.017000	0.13294	-0.233000	0.10659	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.996000	0.76049	0.4806:0.4061:0.0:0.1133	8.812	0.34128	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2667.44	34	chr6	132538563	.	A	T	2667.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.122;DP=410;ExcessHet=0;FS=5.506;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21;ReadPosRankSum=-0.313;SOR=1.217	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	6	0	1	0
chr6	132538566	132538566	-	A	exonic	TAAR9	.	frameshift insertion	TAAR9:NM_175057:exon1:c.277_278insA:p.S93Yfs*14	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0001	0	0	0	0	0.0023	0.0150	3.84e-05	1	26028	rs769937555	0.0013	0.0013	0.0008	0.0018	0.0205	0.0012	0.0012	0.0197	0.0194	6.099e-05	2.331e-05	0	5.053e-05	0	0.0005	2.445e-05	0.0015	0.0205	0.0008	0.0009	0.0004	0.0014	0.0250	0.0007	0.0007	0.0214	0.0200	7.226e-05	0	0.0003	0	0	0	0	1.471e-05	0.0005	0.0250	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2709.4	34	chr6	132538566	.	T	TA	2709.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.503;DP=411;ExcessHet=0;FS=4.268;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.17;ReadPosRankSum=-0.676;SOR=1.077	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	6	0	1	0
chr6	132538569	132538569	G	T	exonic	TAAR9	.	nonsynonymous SNV	TAAR9:NM_175057:exon1:c.G280T:p.V94L	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00698882	0.0017	0.0001	0	0	0	0	0.0023	0.0147	0.0015752	41	26028	rs561599957	0.0013	0.0013	0.0008	0.0018	0.0206	0.0012	0.0012	0.0198	0.0195	6.12e-05	2.353e-05	0	5.054e-05	0	0.0007	2.448e-05	0.0015	0.0206	0.0008	0.0009	0.0004	0.0013	0.0248	0.0007	0.0007	0.0212	0.0198	7.222e-05	0	0.0003	0	0	0	0	1.47e-05	0.0005	0.0248	.	.	.	0.044	0.49663	D	0.698	0.41805	P	0.718	0.54779	P	.	.	.	.	.	.	.	1.27	0.32069	L	.	.	.	.	.	.	0.147	0.14905	.	.	.	.	.	.	.	0.008225441	0.00187	T	.	.	.	.	.	.	.	0.306053231325	0.30222	0.048454403815700264	0.04788	.	.	0.300413608551	0.10462	T	0.070043	0.33862	T	-0.234135	0.16106	T	-0.101846	0.63254	T	.	.	.	0.842916	0.51943	T	0.20482884	0.42605	0.46925017	0.69218	0.20482884	0.42605	0.46925017	0.69218	-7.078	0.54602	T	.	.	0.497	0.64459	A	.	.	3.869260	0.56167	23.7	0.99652169231703736	0.77380	0.93797	0.59218	D	AEFGBI	0.326178	0.42754	N	.	.	.	.	.	.	0.00802983586971047	0.11595	0.06567	0.01388	0	0.085267	0.02369	0	0.063197	0.01477	0	0.075334	0.01956	0	.	.	5.25	4.38	0.52019	1.912000	0.39577	2.702000	0.34168	0.676000	0.76740	0.989000	0.36753	0.999000	0.35428	0.977000	0.56843	0.0:0.1387:0.717:0.1442	11.139	0.47614	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2670.44	34	chr6	132538569	.	G	T	2670.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.412;DP=409;ExcessHet=0;FS=3.24;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.19;ReadPosRankSum=-0.646;SOR=1.011	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	6	0	1	0
chr6	132538573	132538575	AGA	-	exonic	TAAR9	.	nonframeshift deletion	TAAR9:NM_175057:exon1:c.284_286del:p.E95_S96delinsG	.	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0001	0	0	0	0	0.0024	0.0151	3.84e-05	1	26028	rs779956901	0.0013	0.0013	0.0008	0.0018	0.0206	0.0012	0.0012	0.0198	0.0195	6.127e-05	2.36e-05	0	5.056e-05	0	0.0007	2.449e-05	0.0016	0.0206	0.0009	0.0009	0.0004	0.0014	0.0253	0.0007	0.0007	0.0216	0.0202	7.23e-05	0	0.0003	0	0	0	0	1.471e-05	0.0005	0.0253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2626.4	34	chr6	132538572	.	GAGA	G	2626.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.769;DP=412;ExcessHet=0;FS=5.332;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.36;ReadPosRankSum=-1.055;SOR=1.077	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	6	0	1	0
chr6	132538577	132538577	C	G	exonic	TAAR9	.	nonsynonymous SNV	TAAR9:NM_175057:exon1:c.C288G:p.S96R	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0001	0	0	0	0	0.0024	0.0151	3.84e-05	1	26028	rs756919909	0.0013	0.0013	0.0008	0.0018	0.0208	0.0012	0.0012	0.0199	0.0196	6.151e-05	2.381e-05	0	5.059e-05	0	0.0009	2.453e-05	0.0016	0.0208	0.0008	0.0009	0.0003	0.0014	0.0250	0.0007	0.0007	0.0213	0.0200	7.227e-05	0	0.0003	0	0	0	0	1.471e-05	0.0005	0.0250	.	.	.	0.038	0.51421	D	0.161	0.28372	B	0.292	0.40739	B	.	.	.	.	.	.	.	1.99	0.53851	M	.	.	.	.	.	.	0.437	0.47580	.	.	.	.	.	.	.	0.010770857	0.00238	T	.	.	.	.	.	.	.	0.3691244813	0.36518	0.07587601750386615	0.07523	.	.	0.305856764317	0.11281	T	0.070971	0.34093	T	-0.216139	0.18522	T	-0.075284	0.65246	T	.	.	.	0.828317	0.49240	T	0.6068612	0.73059	0.7110951	0.82956	0.6068612	0.73060	0.7110951	0.82957	-9.774	0.72547	D	.	.	0.643	0.70625	P	.	.	3.208334	0.43659	21.8	0.99790499987594172	0.87661	0.36804	0.25617	N	AEFGBI	0.264872	0.38212	N	.	.	.	.	.	.	0.0156414793322007	0.12738	0.06567	0.01388	0	0.085267	0.02369	0	0.063197	0.01477	0	0.075334	0.01956	0	.	.	5.25	5.25	0.73169	0.505000	0.22352	0.533000	0.19265	0.599000	0.40250	0.050000	0.21411	0.984000	0.30665	0.950000	0.49671	0.0:0.9233:0.0:0.0767	12.365	0.54552	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2626.44	34	chr6	132538577	.	C	G	2626.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.102;DP=417;ExcessHet=0;FS=5.332;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.36;ReadPosRankSum=-0.783;SOR=1.077	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	6	0	1	0
chr6	132553440	132553441	AA	-	exonic	TAAR8	.	frameshift deletion	TAAR8:NM_053278:exon1:c.748_749del:p.K250Efs*7	.	431	1084	7	0	0	7	0.00321839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	0.00219649	0.0010	9.768e-05	0.0002	0.0009	0	0.0002	0.0011	0.0060	0.000461	12	26028	rs537864861	0.0005	0.0005	0.0003	0.0007	0.0060	0.0005	0.0004	0.0056	0.0054	0.0002	8.944e-05	7.652e-05	0.0005	1.872e-05	0.0024	0.0001	0.0006	0.0060	0.0004	0.0004	0.0002	0.0005	0.0062	0.0003	0.0003	0.0045	0.0039	0.0003	0	6.547e-05	0	0.0006	0	0	0.0001	0.0005	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003021	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.007576	0.07143	1291.4	34	chr6	132553439	.	CAA	C	1291.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1;DP=280;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-0.836;SOR=0.666	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	6	0	1	0
chr6	132553585	132553585	G	A	exonic	TAAR8	.	nonsynonymous SNV	TAAR8:NM_053278:exon1:c.G893A:p.S298N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00605076619882	.	.	.	.	.	.	.	.	.	.	.	.	.	rs968860017	6.841e-07	6.84e-07	0	1.375e-06	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.065	0.44702	T	0.045	0.21781	B	0.041	0.23986	B	0.396835	0.04510	N	1.471300	1	0.08975	N	0.345	0.11182	N	1.2	0.37405	T	-1.1	0.28497	N	0.122	0.11340	-0.9709	0.37009	T	0.026	0.11264	T	10	0.063779116	0.08360	T	0.006051	0.15816	T	0.062	0.17934	0.496	0.58520	0.0954503805726	0.09146	0.09947565960018886	0.09878	0.0523639004984	0.05764	0.228781312704	0.01879	T	0.01684	0.13845	T	-0.223905	0.17464	T	-0.5594	0.16432	T	0.217411801218987	0.21334	T	0.645735	0.25721	T	0.29303277	0.52273	0.16501833	0.38196	0.29303277	0.52273	0.16501833	0.38196	-6.407	0.49564	T	.	.	0.336	0.55665	B	.	.	0.373679	0.07458	4.095	0.81331202458039487	0.13633	0.27679	0.23345	N	AEFBI	0.146211	0.26960	N	-1.18619867761781	0.05208	0.2368775	-1.31363110514335	0.04253	0.2002167	0.0176837739336784	0.12978	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.58	-6.9	0.01496	1.318000	0.33249	-14.199000	0.00416	0.651000	0.53179	0.002000	0.15269	0.000000	0.08366	0.008000	0.08271	0.0:0.161:0.1286:0.7104	12.880	0.57402	817	0.41665	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	820.44	34	chr6	132553585	.	G	A	820.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.332;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=1.37;SOR=0.586	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	6	0	1	0
chr6	132571343	132571343	T	C	exonic	TAAR6	.	nonsynonymous SNV	TAAR6:NM_175067:exon1:c.T1022C:p.F341S	.	435	1084	2	1	0	4	0.00184162	.	.	.	2439173	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.117	0.0402031330663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.745e-06	2.736e-06	1.365e-06	4.138e-06	0.0005	6.4e-07	4.3e-07	0.0001	7.606e-05	0	0	0	0	0	0.0005	0	0	1.17e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.015	0.61642	D	0.62	0.39915	P	0.265	0.39681	B	0.078582	0.21034	N	0.372474	1	0.08975	N	2.145	0.60081	M	0.04	0.62051	T	-5.85	0.88495	D	0.196	0.21580	-0.9308	0.44021	T	0.118	0.41560	T	10	0.14953831	0.28298	T	0.040203	0.59246	D	0.117	0.32689	0.468	0.54052	0.226586394389	0.22295	0.06207947908473188	0.06147	0.0132716735752	0.01276	0.434395700693	0.29810	T	0.092995	0.39120	T	-0.130076	0.31485	T	-0.424621	0.30547	T	0.807114481925964	0.46844	D	0.324568	0.06628	T	0.3446781	0.56650	0.32470956	0.58392	0.3446781	0.56650	0.32470956	0.58391	-7.535	0.57856	D	.	.	0.401	0.59655	A	.	.	2.173122	0.27693	17.55	0.9837515131571235	0.40791	0.30136	0.24004	N	AEFBI	0.119824	0.23369	N	-0.255031021401008	0.30902	1.727591	-0.361432249402397	0.26157	1.442997	0.255511963949098	0.18729	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.11	2.77	0.31614	1.104000	0.30687	0.429000	0.18304	0.665000	0.62972	0.264000	0.24988	0.000000	0.08366	0.223000	0.22544	0.1376:0.1554:0.0:0.707	4.906	0.13154	834	0.38640	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	819.63	36	chr6	132571343	.	T	C	819.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.01;DP=243;ExcessHet=0;FS=1.027;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=-0.409;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1075	6	0	1	0
chr6	132588911	132588911	C	A	exonic	TAAR5	.	nonsynonymous SNV	TAAR5:NM_003967:exon1:c.G776T:p.G259V	.	.	.	.	.	.	.	.	.	.	.	3335060	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.203	0.00892687749745	.	.	8.244e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs775816647	6.157e-06	6.156e-06	2.722e-06	9.626e-06	0.0002	2.9e-06	2.1e-06	9.75e-05	6.95e-05	0.0002	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.539	0.06824	T	0.478	0.11968	T	0.238	0.30817	B	0.142	0.33681	B	0.002250	0.36929	N	0.169319	1	0.81001	D	2.265	0.64440	M	1.34	0.34841	T	-2.35	0.51968	N	0.384	0.42541	-0.9736	0.36431	T	0.084	0.32986	T	10	0.18919772	0.34509	T	0.008927	0.23535	T	0.203	0.48915	0.598	0.72862	0.473538153929	0.46983	0.6309745598591476	0.63031	0.078622320537	0.08843	0.306034773588	0.11308	T	0.069965	0.33842	T	-0.267289	0.12061	T	-0.440191	0.28786	T	0.396890074014664	0.28825	T	0.887111	0.61484	D	0.35646185	0.57565	0.26755232	0.52614	0.35646185	0.57566	0.26755232	0.52613	-6.183	0.47785	T	.	.	0.186	0.40197	B	.	.	1.729493	0.22013	15.44	0.99440193894119699	0.64720	0.36617	0.25574	N	AEFBI	0.224036	0.34832	N	-0.123834844371072	0.36356	2.100384	-0.104955658088785	0.35191	2.032981	0.984021852598444	0.30651	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.58	3.73	0.41982	0.609000	0.23935	-0.394000	0.09455	0.596000	0.33519	0.003000	0.16062	0.000000	0.08366	0.887000	0.42601	0.2559:0.744:0.0:0.0	15.141	0.72291	864	0.32732	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	778.44	46	chr6	132588911	.	C	A	778.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.865;DP=266;ExcessHet=0;FS=2.064;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-0.624;SOR=0.959	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1620	6	0	1	0
chr6	136372632	136372632	G	A	exonic	MAP7	.	nonsynonymous SNV	MAP7:NM_001198609:exon8:c.C835T:p.R279C	.	434	1072	15	1	0	17	0.00786673	0.7399	0.674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.00119808	0.0009	0	8.64e-05	0	0	0.0003	0.0011	0.0054	0.0007762	120	154602	rs201467716	0.0005	0.0005	0.0003	0.0006	0.0056	0.0004	0.0004	0.0052	0.0051	0	6.708e-05	0.0002	5.038e-05	0	0.0036	0.0001	0.0005	0.0056	0.0003	0.0003	0.0003	0.0003	0.0066	0.0002	0.0002	0.0048	0.0042	2.405e-05	0	0	0.0003	0	0	0.0102	0.0002	0	0.0066	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.703	0.70702	.	.	.	.	.	.	.	0.014386743	0.00303	T	.	.	.	.	.	.	.	0.620838506629	0.61777	0.424079075152749	0.42324	.	.	0.685151934624	0.65009	T	0.243016	0.61187	T	-0.132257	0.31133	T	0.0395804	0.72901	D	.	.	.	0.954105	0.82551	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.878	0.81362	P	.	.	2.521226	0.32578	19.08	0.97535319160395095	0.34480	0.96901	0.71559	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999999861047	0.74766	0.156188	0.03335	0	0.085267	0.02369	0	0.231514	0.04749	0	0.075334	0.01956	0	0.987021	0.95354	5.81	5.81	0.92413	8.091000	0.89354	9.869000	0.82114	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.075	0.97738	741	0.52966	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.005051	0.000000	0.000000	0.000000	0.000000	0.006098	0.018939	0.07143	1008.46	34	chr6	136372632	.	G	A	1008.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.443;DP=275;ExcessHet=0;FS=1.655;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=0.378;SOR=0.528	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1240	6	0	1	0
chr6	138404520	138404520	C	T	exonic	HEBP2	.	nonsynonymous SNV	HEBP2:NM_001326381:exon1:c.C25T:p.P9S,HEBP2:NM_014320:exon1:c.C25T:p.P9S	.	444	1067	11	0	0	11	0.00512821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	.	0.000998403	0.0114	0	0	0	.	0.0577	.	0.0037	0.0004592	71	154602	rs534012762	0.0057	0.0049	0.0059	0.0056	0.0063	0.0056	0.0056	0.0062	0.0061	0.0009	0.0014	0.0073	3.705e-05	0.0015	0.0059	0.0063	0.0052	0.0028	0.0036	0.0036	0.0038	0.0034	0.0048	0.0034	0.0033	0.0044	0.0042	0.0012	0.0833	0.0022	0.0063	0	0.0024	0.0034	0.0048	0.0019	0.0029	0.331	0.13088	T	0.535	0.11586	T	0.0	0.02946	B	0.0	0.01387	B	0.488886	0.05024	N	1.355200	1	0.08975	N	0.69	0.16971	N	.	.	.	0.23	0.04613	N	0.081	0.06454	-0.9953	0.31218	T	0.011	0.04181	T	10	0.0024902225	0.00037	T	.	.	.	0.011	0.01250	.	.	0.0401082797425	0.02173	0.4642122900808919	0.46340	0.0449599093349	0.04864	0.670815944672	0.62954	T	0.008932	0.08161	T	-0.620581	0.00109	T	-0.665036	0.07931	T	0.0324723263188649	0.02384	T	0.430757	0.11694	T	0.023709381	0.01135	0.050705973	0.08014	0.023709381	0.01135	0.050705973	0.08013	-3.704	0.19377	T	.	.	0.076	0.05890	B	.;.	.;.	0.255849	0.06345	2.809	0.90006153036151082	0.19296	0.02469	0.06929	N	ALL	0.035778	0.04661	N	-1.34913558973648	0.03134	0.1395019	-1.37821957523217	0.03485	0.1626643	0.999999971033769	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.92	1.03	0.19161	-0.105000	0.10876	0.131000	0.15046	-0.295000	0.06246	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.1702:0.5046:0.2109:0.1143	2.552	0.04462	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001276	0.000000	0.000000	0.004808	0.000000	0.000000	0.000000	0.000000	0.1667	684.93	16	chr6	138404520	.	C	T	684.93	.	AC=2;AF=0.167;AN=12;DP=126;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.62;SOR=1.828	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,921	5	1	0	1
chr6	138915879	138915879	G	A	exonic	REPS1	.	nonsynonymous SNV	REPS1:NM_001128617:exon13:c.C1618T:p.R540W,REPS1:NM_001286611:exon14:c.C1699T:p.R567W,REPS1:NM_031922:exon14:c.C1696T:p.R566W	.	.	.	.	.	.	.	.	.	.	.	3122556	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.262	0.030098778324	.	.	4.12e-05	0	0	0	0	7.493e-05	0	0	3.88e-05	6	154602	rs762705256	5.687e-05	5.678e-05	5.455e-05	5.921e-05	6.938e-05	4.684e-05	4.308e-05	5.634e-05	5.205e-05	0	0	0	0	0	0	6.938e-05	1.658e-05	5.8e-05	3.287e-05	3.284e-05	6.427e-05	0	7.353e-05	1.261e-05	7.98e-06	2.847e-05	1.859e-05	0	0	0	0	0	0	0	7.353e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.975	0.24501	L	1.02	0.40749	T	-4.66	0.81985	D	0.847	0.85766	-0.8582	0.51391	T	0.166	0.50486	T	10	0.49989006	0.61485	T	0.030099	0.52479	D	0.262	0.57482	0.305	0.27485	0.431743554055	0.42795	0.44947203644102157	0.44865	0.911785687652	0.71087	0.764191806316	0.76554	T	0.245256	0.61452	T	0.0659329	0.60351	T	0.0372276	0.72748	D	0.906358420848846	0.56035	D	0.990687	0.97117	D	0.6976965	0.77931	0.39830208	0.64422	0.6976965	0.77932	0.39830208	0.64422	-10.279	0.78297	D	0.6743236263959879	0.74980	0.735	0.82415	P	.;.;.;.;.	.;.;.;.;.	5.482316	0.91393	32	0.99919776879739497	0.98654	0.87521	0.47087	D	AEFBHCI	0.762458	0.69986	D	0.768312605794543	0.84090	8.192068	0.766192313594685	0.87360	9.195748	0.999911170303674	0.45857	0.741868	0.97996	0	0.774882	0.99574	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.96	5.02	0.66742	4.871000	0.62737	9.585000	0.81036	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.6237:0.3763	11.728	0.50987	916	0.20744	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1401.49	37	chr6	138915879	.	G	A	1401.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.837;DP=298;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.358;SOR=0.688	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,103,1152	6	0	1	0
chr6	139262592	139262592	T	C	exonic	TXLNB	.	nonsynonymous SNV	TXLNB:NM_153235:exon5:c.A869G:p.E290G	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.495	0.0331145429749	.	.	8.348e-06	0	0	0	0	1.509e-05	0	0	1.29e-05	2	154602	rs200850808	1.3e-05	1.3e-05	9.53e-06	1.65e-05	0.0005	8.31e-06	6.7e-06	0.0001	7.544e-05	0	2.238e-05	0	0	0	0.0005	1.169e-05	3.312e-05	0	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.007	0.69154	D	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.045183	0.999747	0.48716	D	2.83	0.82355	M	1.19	0.37578	T	-5.24	0.83967	D	0.754	0.75283	-0.2437	0.76529	T	0.368	0.72780	T	9	0.78573096	0.78230	D	0.033115	0.54755	D	0.495	0.78036	0.508	0.60386	0.547979623877	0.54453	0.34804737610427516	0.34718	0.468981545237	0.46220	0.677969932556	0.63977	T	0.089944	0.38481	T	0.104321	0.64757	D	-0.087927	0.64319	T	0.996248185634613	0.88951	D	0.836816	0.50885	T	0.7365527	0.80095	0.79620296	0.88032	0.7365527	0.80097	0.79620296	0.88033	-7.127	0.54955	T	.	.	0.846	0.79536	P	.	.	5.509993	0.91672	32	0.99903006960127638	0.97426	0.96527	0.69585	D	AEFDGBCIJ	0.954575	0.97177	D	0.555774487165403	0.70435	5.501022	0.601788835457115	0.75068	6.245855	0.999999999999934	0.74766	0.487112	0.14033	0	0.480063	0.06835	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.63	5.63	0.86108	7.897000	0.85944	6.183000	0.54660	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	15.838	0.78596	536	0.73233	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.000000	0.07143	640.49	36	chr6	139262592	.	T	C	640.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.087;DP=225;ExcessHet=0;FS=1.238;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-0.979;SOR=0.399	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1172	6	0	1	0
chr6	143433975	143433975	G	-	exonic	ADAT2	.	frameshift deletion	ADAT2:NM_001286259:exon3:c.67delC:p.R23Dfs*47,ADAT2:NM_182503:exon3:c.208delC:p.R70Dfs*47	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	43.4	40	chr6	143433974	.	CG	C	43.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.812;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.82;ReadPosRankSum=-2.2;SOR=0.495	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1297	6	0	1	0
chr6	143511611	143511611	C	A	exonic	FUCA2	.	nonsynonymous SNV	FUCA2:NM_032020:exon1:c.G24T:p.R8S	.	6	1514	2	0	0	2	0.000660066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.013282780138	.	0.000199681	8.418e-05	0	0.0037	0	0	0	0	0	1.29e-05	2	154602	rs530866043	2.232e-05	2.326e-05	2.269e-05	2.194e-05	0.0002	1.6e-05	1.394e-05	1.683e-05	1.43e-05	0	2.842e-05	0	0	0	0.0002	2.42e-05	5.211e-05	0	3.938e-05	3.937e-05	6.423e-05	1.342e-05	0.0001	1.714e-05	1.128e-05	2.257e-05	9.06e-06	0	0	0.0001	0	0	0	0	4.41e-05	0.0005	0	0.0	0.91255	D	0.2	0.27591	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	0.59	0.53943	T	0.04	0.06488	N	0.046	0.01825	-1.0107	0.26698	T	0.076	0.30584	T	9	0.008499801	0.00193	T	0.013283	0.32560	T	0.160	0.41473	0.174	0.08014	0.194818534648	0.19098	0.49146037496378564	0.49067	0.205290401865	0.22950	0.594524800777	0.52131	T	0.117499	0.43762	T	-0.311322	0.07633	T	-0.489333	0.23461	T	0.199651762206904	0.20397	T	0.372463	0.08834	T	0.07677823	0.17387	0.17603454	0.40109	0.07677823	0.17386	0.17603454	0.40108	-3.5	0.16431	T	.	.	0.155	0.34316	B	.	.	0.685035	0.10537	7.247	0.77332556343395287	0.11832	0.42096	0.26803	N	ALL	0.135900	0.25638	N	-1.19484908221337	0.05077	0.2306314	-1.18072251240021	0.06232	0.2993327	0.999999999999891	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.42	1.5	0.22029	0.050000	0.14004	-0.465000	0.09014	-0.947000	0.02050	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5157:0.4843:0.0	14.255	0.65595	754	0.51307	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	757.53	37	chr6	143511611	.	C	A	757.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.03;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=0.768;SOR=0.768	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,974	6	0	1	0
chr6	144426330	144426330	C	T	exonic	UTRN	.	nonsynonymous SNV	UTRN:NM_007124:exon6:c.C449T:p.T150M	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.545	0.107481849664	.	.	4.951e-05	0	0.0002	0	0	1.501e-05	0.0011	0.0001	3.88e-05	6	154602	rs755926708	2.463e-05	2.531e-05	2.587e-05	2.338e-05	0.0002	1.803e-05	1.6e-05	7.999e-05	6.237e-05	2.989e-05	4.473e-05	0	0	0	0.0002	1.439e-05	6.624e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.336	0.18232	T	1.0	0.90584	D	0.996	0.84481	D	0.000061	0.52346	D	0.000000	0.996663	0.43340	D	2.525	0.73725	M	-3.81	0.95728	D	-3.62	0.69593	D	0.781	0.77789	0.899	0.95656	D	0.906	0.96872	D	10	0.57664585	0.65617	D	0.107482	0.78358	D	0.545	0.81077	0.248	0.18447	0.891936324825	0.89086	0.6341849322684063	0.63352	0.59421333327	0.54743	0.75995361805	0.75922	T	0.708216	0.91656	D	0.128075	0.67173	D	0.22563	0.84456	D	0.866014719009399	0.51610	D	0.966003	0.87955	D	0.37084788	0.58648	0.4599987	0.68634	0.37084788	0.58648	0.4599987	0.68634	-8.794	0.66361	D	.	.	0.245	0.49295	B	.;.	.;.	5.297812	0.88949	29.8	0.99928088625237987	0.99222	0.97643	0.76109	D	AEFDBI	0.598420	0.59182	D	0.695636017833474	0.79344	7.058413	0.681804880282858	0.80998	7.42514	0.999999992777203	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.92	5.92	0.95557	6.038000	0.70604	7.609000	0.61840	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	20.315	0.98651	905	0.23532	Calponin homology domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1203.44	33	chr6	144426330	.	C	T	1203.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.979;DP=278;ExcessHet=0;FS=5.122;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.266;SOR=1.226	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1230	6	0	1	0
chr6	148543929	148543929	G	A	exonic	SASH1	.	nonsynonymous SNV	SASH1:NM_001346507:exon11:c.G1742A:p.R581Q,SASH1:NM_001346508:exon11:c.G2231A:p.R744Q,SASH1:NM_001346509:exon11:c.G2108A:p.R703Q,SASH1:NM_001346505:exon18:c.G2324A:p.R775Q,SASH1:NM_015278:exon18:c.G2459A:p.R820Q,SASH1:NM_001346506:exon19:c.G2087A:p.R696Q	.	418	1082	22	0	0	22	0.010064	.	.	.	710255	not_provided|Dyschromatosis_universalis_hereditaria_1|Cancer,_alopecia,_pigment_dyscrasia,_onychodystrophy,_and_keratoderma|not_specified	MedGen:C3661900|MONDO:MONDO:0024524,MedGen:C2675711,OMIM:127500|MedGen:C5193062,OMIM:618373|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.218	0.0172446337167	0.0013	0.00219649	0.0016	0.0004	0.0011	0.0001	0.0003	0.0012	0.0044	0.0053	0.0015071	233	154602	rs144633784	0.0016	0.0016	0.0015	0.0018	0.0062	0.0016	0.0015	0.0058	0.0056	0.0001	0.0015	0.0001	2.519e-05	0.0002	0.0052	0.0014	0.0018	0.0062	0.0013	0.0013	0.0012	0.0015	0.0077	0.0012	0.0011	0.0057	0.0051	0.0004	0	0.0016	0	0.0006	0.0003	0.0034	0.0017	0.0028	0.0077	0.002	0.72154	D	0.121	0.47581	T	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.053272	0.999772	0.48980	D	2.125	0.59049	M	0.96	0.42888	T	-1.05	0.27463	N	0.334	0.42443	-0.7446	0.58216	T	0.194	0.54782	T	10	0.0102826655	0.00229	T	0.017245	0.38871	T	0.218	0.51265	.	.	0.77987184126	0.77784	0.4749283720298943	0.47411	0.176476331138	0.19866	0.362321317196	0.19724	T	0.106191	0.41731	T	-0.228314	0.16874	T	-0.0985372	0.63511	T	0.0326058988812123	0.02405	T	0.877812	0.59215	D	0.34333792	0.56544	0.21063916	0.45459	0.32845256	0.55344	0.26970348	0.52853	-6.874	0.53107	T	0.1422885936812735	0.16079	0.089	0.29116	B	.;.	.;.	4.306935	0.65809	24.9	0.99960862353843405	0.99997	0.97960	0.78445	D	AEFBI	0.581725	0.58162	D	0.739948704742311	0.82251	7.716262	0.720014076574633	0.83901	8.144222	0.999999999995787	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	5.951000	0.69992	7.627000	0.62562	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	17.054	0.86402	957	0.09725	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.015152	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.07143	139.44	34	chr6	148543929	.	G	A	139.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.07;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.92;ReadPosRankSum=-1.981;SOR=1.981	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1312	6	0	1	0
chr6	148548500	148548500	G	T	exonic	SASH1	.	nonsynonymous SNV	SASH1:NM_001346507:exon13:c.G2969T:p.R990I,SASH1:NM_001346508:exon13:c.G3458T:p.R1153I,SASH1:NM_001346509:exon13:c.G3335T:p.R1112I,SASH1:NM_001346505:exon20:c.G3551T:p.R1184I,SASH1:NM_015278:exon20:c.G3686T:p.R1229I,SASH1:NM_001346506:exon21:c.G3314T:p.R1105I	.	437	1084	1	0	0	1	0.000461042	.	.	.	699366	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.306	.	0.0088	0.0109824	0.0027	0.0265	0.0023	0	0	0.0003	0.0056	0.0001	0.0026778	414	154602	rs61996289	0.0011	0.0011	0.0011	0.0010	0.0277	0.0010	0.0010	0.0262	0.0256	0.0277	0.0019	0.0013	0	0	0.0059	0.0002	0.0030	0.0002	0.0075	0.0075	0.0076	0.0073	0.0255	0.0071	0.0070	0.0242	0.0237	0.0255	0	0.0031	0.0023	0	0	0.0034	0.0002	0.0033	0	0.003	0.68238	D	0.016	0.60972	D	0.427	0.35524	B	0.185	0.36047	B	0.000673	0.42516	D	0.257624	0.999986	0.54805	D	1.195	0.30194	L	-2.07	0.85943	D	-2.05	0.47008	N	0.148	0.18784	-0.5511	0.66745	T	0.285	0.65665	T	10	0.0075474977	0.00171	T	.	.	.	0.306	0.62729	.	.	0.89600254552	0.89497	0.5609210872077474	0.56019	0.369694341272	0.38498	0.371209472418	0.21006	T	0.041134	0.25758	T	-0.392972	0.02574	T	-0.316304	0.42979	T	0.0346698785293855	0.02752	T	0.878912	0.59457	D	0.109509625	0.25890	0.17862569	0.40544	0.14806776	0.33819	0.17864294	0.40545	-8.818	0.66518	D	0.2404497818916538	0.32568	0.230	0.53261	B	.;.	.;.	3.091358	0.41625	21.4	0.97107006766431436	0.32392	0.97090	0.72631	D	AEFDBIJ	0.243533	0.36480	N	-0.178670257558677	0.34025	1.937096	-0.0908496607956728	0.35767	2.073244	0.999873481471847	0.44625	0.706548	0.73137	0	0.563428	0.19063	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.36	2.57	0.29928	2.315000	0.43412	1.484000	0.26842	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.2118:0.1312:0.6571:0.0	6.365	0.20654	961	0.08552	Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|SASH1, SAM domain repeat 2;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|SASH1, SAM domain repeat 2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012588	0.015152	0.024457	0.008772	0.000000	0.025862	0.003049	0.000000	0.07143	228.49	34	chr6	148548500	.	G	T	228.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.092;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.16;ReadPosRankSum=1.12;SOR=0.542	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1133	6	0	1	0
chr6	149378547	149378547	A	G	exonic	TAB2	.	nonsynonymous SNV	TAB2:NM_001292034:exon3:c.A632G:p.N211S,TAB2:NM_001292035:exon3:c.A536G:p.N179S,TAB2:NM_001369506:exon4:c.A632G:p.N211S,TAB2:NM_015093:exon5:c.A632G:p.N211S	Congenital heart defects, nonsyndromic, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.0174232180529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.097e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.15561	T	0.308	0.19845	T	0.993	0.65571	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	-0.73	0.73100	T	-0.76	0.21215	N	0.832	0.82761	-0.6069	0.64532	T	0.286	0.65763	T	10	0.41120163	0.56237	T	0.017423	0.39111	T	0.289	0.60808	0.142	0.04556	0.838873866338	0.83733	0.5868442608649261	0.58614	0.921335754619	0.71472	0.701119542122	0.67305	T	0.222447	0.58630	T	-0.0361796	0.46514	T	-0.289746	0.45798	T	0.672599494457245	0.39454	D	0.943606	0.78679	D	0.07764685	0.17636	0.09442277	0.22350	0.07764685	0.17635	0.09442277	0.22350	-3.035	0.10563	T	0.6447677205311815	0.71602	0.165	0.36335	B	.;.;.	.;.;.	3.080831	0.41449	21.4	0.94975233418001004	0.25908	0.99224	0.93061	D	AEGBI	.	.	.	0.18399020640354	0.50429	3.23311	0.184305151337975	0.48988	3.107472	0.999995086728048	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.96	4.81	0.61401	8.718000	0.91150	11.270000	0.91373	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.9329:0.0:0.0671:0.0	12.018	0.52617	761	0.50382	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	183.05	34	chr6	149378547	.	A	G	183.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-6.484;DP=811;ExcessHet=1.383;FS=167.635;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.27;ReadPosRankSum=1.81;SOR=10.224	GT:AD:DP:GQ:PL	0/1:214,67:281:76:76,0,4339	3	0	3	1
chr6	149969094	149969094	C	T	exonic	ULBP1	.	nonsynonymous SNV	ULBP1:NM_025218:exon3:c.C359T:p.T120I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.000786976162902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.105e-06	5.472e-06	5.445e-06	2.75e-06	5.975e-05	1.48e-06	9.7e-07	9.9e-06	3.7e-06	5.975e-05	0	0	0	0	0	2.698e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.34621	T	0.067	0.44302	T	0.596	0.39217	P	0.373	0.43650	B	.	.	.	.	1	0.08975	N	.	.	.	2.97	0.09450	T	-4.47	0.77881	D	0.16	0.16725	-1.0221	0.23031	T	0.015	0.06234	T	9	0.41418418	0.56428	T	7.87E-4	0.00608	T	0.092	0.26621	0.777	0.90235	0.0762999501168	0.06990	0.22566910908815838	0.22481	0.00633001268636	0.00551	0.362179279327	0.19703	T	0.025037	0.18800	T	-0.360252	0.04115	T	-0.755253	0.03285	T	0.352132691898015	0.27103	T	0.553945	0.19167	T	0.0793845	0.18133	0.09759962	0.23237	0.0793845	0.18132	0.09759962	0.23236	-6.159	0.47590	T	.	.	0.121	0.25100	B	.	.	-0.762113	0.01183	0.057	0.93282539487678406	0.22987	0.00589	0.02644	N	AEFDBI	0.015662	0.00310	N	-1.16932157929454	0.05469	0.2494159	-1.40897239867254	0.03162	0.146937	0.0481859885983105	0.14759	0.549168	0.22868	0	0.563428	0.19063	0	0.590023	0.30420	0	0.616125	0.45549	0	.	.	2.22	-2.29	0.06419	-1.524000	0.02337	-11.725000	0.00580	-2.541000	0.00250	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1886:0.5243:0.0:0.2871	3.694	0.07888	326	0.86709	MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	813.44	33	chr6	149969094	.	C	T	813.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.38;DP=265;ExcessHet=0;FS=5.304;MLEAC=1;MLEAF=0.071;MQ=54.73;MQRankSum=-7.247;QD=11.62;ReadPosRankSum=0.599;SOR=1.422	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,99,1485:.	6	0	1	0
chr6	150021019	150021019	C	T	exonic	RAET1L	.	nonsynonymous SNV	RAET1L:NM_130900:exon3:c.G517A:p.E173K	.	406	1108	8	0	0	8	0.00359712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00172519237424	0.0072	0.00319489	0.0052	0.0016	0.0014	0	0.0029	0.0077	0.0011	0.0037	0.0054268	839	154602	rs148198102	0.0081	0.0081	0.0083	0.0078	0.0093	0.0080	0.0079	0.0092	0.0091	0.0010	0.0021	0.0123	5.038e-05	0.0030	0.0017	0.0093	0.0084	0.0037	0.0048	0.0048	0.0056	0.0039	0.0077	0.0045	0.0044	0.0072	0.0070	0.0018	0	0.0022	0.0124	0.0002	0.0021	0	0.0077	0.0033	0.0050	0.003	0.68238	D	0.004	0.74150	D	0.983	0.60381	D	0.857	0.61067	P	.	.	.	.	1	0.08975	N	.	.	.	2.98	0.09356	T	-3.33	0.66206	D	0.168	0.17828	-1.0707	0.09260	T	0.026	0.11087	T	9	0.00672698	0.00153	T	0.001725	0.02882	T	0.043	0.11576	.	.	0.254244900254	0.25046	0.23325492473537512	0.23240	0.192957473328	0.21626	0.316740572453	0.12927	T	0.01837	0.14822	T	-0.620221	0.00110	T	-0.65265	0.08769	T	0.0207443749061396	0.00774	T	0.920908	0.71352	D	0.310507	0.53830	0.34226173	0.59955	0.310507	0.53830	0.34226173	0.59954	-6.86	0.53004	T	.	.	0.196	0.41798	B	.;.	.;.	1.899746	0.24129	16.28	0.99206706091487862	0.55442	0.00753	0.03128	N	AEFI	0.023743	0.01365	N	-0.367198781803063	0.26644	1.455756	-0.681990130928375	0.17411	0.9256887	1.15833776898731E-5	0.02871	0.549168	0.22868	0	0.627178	0.54094	0	0.59043	0.30614	0	0.616125	0.45549	0	.	.	1.91	-0.0121	0.13314	-0.062000	0.11631	-4.266000	0.02248	0.596000	0.33519	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.0:0.6012:0.0:0.3988	4.177	0.09818	299	0.88026	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.005051	0.004076	0.000000	0.000000	0.008621	0.003049	0.000000	0.07143	2905.44	33	chr6	150021019	.	C	T	2905.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.059;DP=736;ExcessHet=0;FS=1.429;MLEAC=1;MLEAF=0.071;MQ=59.93;MQRankSum=-0.191;QD=10.23;ReadPosRankSum=-0.882;SOR=0.607	GT:AD:DP:GQ:PL	0/0:141,0:141:99:0,120,1800	6	0	1	0
chr6	150065587	150065587	G	A	exonic	ULBP3	.	nonsynonymous SNV	ULBP3:NM_024518:exon3:c.C439T:p.R147W	.	436	1084	2	0	0	2	0.000921659	.	.	.	2223534	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.00216405864512	7.7e-05	.	6.589e-05	0	0	0	0	8.99e-05	0	0.0001	5.17e-05	8	154602	rs372155960	2.326e-05	2.326e-05	1.906e-05	2.75e-05	0.0003	1.674e-05	1.477e-05	6.092e-05	2.521e-05	0	0	0.0002	0	0	0.0003	1.888e-05	3.311e-05	3.478e-05	1.314e-05	1.313e-05	1.285e-05	1.346e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	0.986	0.61523	D	0.6	0.50752	P	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-3.18	0.64478	D	0.192	0.21056	-1.0734	0.08681	T	0.012	0.04463	T	9	0.160317	0.30100	T	0.002164	0.04043	T	0.074	0.21613	.	.	0.294561560033	0.29076	0.2077957385423685	0.20695	0.421847818605	0.42694	0.264152258635	0.05395	T	0.016555	0.13660	T	-0.403692	0.02189	T	-0.636124	0.09954	T	0.294054308419766	0.24758	T	0.933407	0.75038	D	0.30523413	0.53370	0.25085387	0.50685	0.30523413	0.53370	0.25085387	0.50684	-5.676	0.43479	T	.	.	0.137	0.29914	B	.;.	.;.	2.258427	0.28859	17.93	0.99616106751026501	0.75112	0.01402	0.04750	N	AEFDBI	0.051091	0.08994	N	-0.672055422042061	0.16821	0.860352	-0.972324692850807	0.10409	0.524099	0.972061096082297	0.29339	0.706548	0.73137	0	0.610034	0.51514	0	0.566861	0.19136	0	0.714379	0.83352	0	.	.	3.34	-4.93	0.02839	-0.684000	0.05275	-9.247000	0.00847	-1.241000	0.01314	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0978:0.0:0.219:0.6832	7.506	0.26714	330	0.86467	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2181.44	34	chr6	150065587	.	G	A	2181.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.48;DP=405;ExcessHet=0;FS=1.104;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=0.141;SOR=0.59	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1302	6	0	1	0
chr6	150395515	150395515	C	T	exonic	IYD	.	nonsynonymous SNV	IYD:NM_001164694:exon5:c.C748T:p.P250S	Thyroid dyshormonogenesis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3208168	IYD-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.216	0.010992401059	0.0013	0.000998403	0.0005	0.0050	0	0	0	0	0	0	0.0001035	16	154602	rs75380096	0.0001	0.0001	0.0002	9.657e-05	0.0042	0.0001	0.0001	0.0036	0.0034	0.0042	0.0005	0	0	0	0.0002	0	0.0004	2.524e-05	0.0015	0.0015	0.0015	0.0015	0.0051	0.0014	0.0013	0.0045	0.0043	0.0051	0	0.0010	0	0	0	0	0	0.0028	0	0.038	0.57480	D	0.438	0.48594	T	.	.	.	.	.	.	0.284175	0.03852	N	1.655630	1	0.08975	N	.	.	.	-2.06	0.86146	D	-4.27	0.82341	D	0.095	0.09914	-0.8193	0.53978	T	0.357	0.71967	T	10	0.0057896674	0.00129	T	0.010992	0.28145	T	0.216	0.50959	.	.	0.326074293725	0.32213	0.6336104873368039	0.63295	0.0602571293545	0.06699	0.19718927145	0.00380	T	0.251328	0.62156	T	-0.471686	0.00829	T	-0.449643	0.27737	T	0.0148353492841125	0.00313	T	0.582642	0.21138	T	.	.	.	.	.	.	.	.	-3.077	0.11033	T	.	.	0.091	0.15160	B	.;.;.	.;.;.	0.514006	0.08826	5.607	0.80845113484275521	0.13396	0.02016	0.06059	N	ALL	0.058173	0.10895	N	-1.07693144195537	0.07070	0.3273607	-1.1985859624554	0.05934	0.2841637	0.99676144194687	0.34990	0.520426	0.21595	0	0.596394	0.48810	0	0.440839	0.06518	1	0.691587	0.68394	0	.	.	3.16	-0.749	0.10525	-1.302000	0.02854	-2.845000	0.03303	-0.243000	0.07376	0.000000	0.06391	0.000000	0.08366	0.083000	0.17415	0.0:0.4324:0.2014:0.3662	3.423	0.06972	923	0.18507	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	335.45	33	chr6	150395515	.	C	T	335.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.507;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.8;ReadPosRankSum=-0.838;SOR=0.622	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1216	6	0	1	0
chr6	152321836	152321836	T	-	exonic	SYNE1	.	frameshift deletion	SYNE1:NM_033071:exon82:c.15755delA:p.K5252Rfs*13,SYNE1:NM_182961:exon83:c.15968delA:p.K5323Rfs*13	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	49.4	34	chr6	152321835	.	CT	C	49.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.645;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=-1.645;SOR=0.368	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1120	6	0	1	0
chr6	152331115	152331115	C	G	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon77:c.G13357C:p.V4453L,SYNE1:NM_182961:exon78:c.G13570C:p.V4524L	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00754825800838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.034	0.53072	D	0.003	0.11197	B	0.004	0.10090	B	0.325020	0.14208	N	0.660669	1	0.81001	D	0.69	0.16971	N	1.38	0.34050	T	-0.86	0.23372	N	0.117	0.11340	-0.9824	0.34445	T	0.014	0.05513	T	10	0.042183667	0.02943	T	0.007548	0.20033	T	0.031	0.07369	0.323	0.30387	0.170165803431	0.16609	0.20548542717459714	0.20465	0.130822632684	0.14758	0.293257117271	0.09399	T	0.127862	0.45515	T	-0.311759	0.07593	T	-0.685596	0.06647	T	0.025374189688588	0.01322	T	0.79652	0.44001	T	0.047435828	0.08107	0.051205635	0.08193	0.047435828	0.08107	0.051205635	0.08192	-0.288	0.00468	T	.	.	0.131	0.28145	B	.;.	.;.	0.577523	0.09458	6.239	0.69415960505877994	0.08965	0.95287	0.64137	D	AEFDBI	0.517551	0.54362	D	-0.98190325063367	0.08989	0.4236828	-0.848130851139563	0.13332	0.6910612	0.0729640935166664	0.15619	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	6.03	0.886	0.18329	1.409000	0.34288	-0.077000	0.12225	-0.313000	0.06017	1.000000	0.71638	0.000000	0.08366	0.599000	0.31363	0.0:0.5304:0.1169:0.3527	6.318	0.20409	847	0.35998	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	45.25	107	chr6	152331115	.	C	G	45.25	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.043;DP=702;ExcessHet=0.4139;FS=242.021;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.28;ReadPosRankSum=1.07;SOR=10.035	GT:AD:DP:GQ:PL	0/0:128,40:183:4:0,4,2371	4	0	2	1
chr6	152376831	152376831	T	C	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon57:c.A9112G:p.R3038G,SYNE1:NM_182961:exon57:c.A9091G:p.R3031G	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	368458	Autosomal_recessive_ataxia,_Beauce_type|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_provided|not_specified	MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.101	0.0314635818369	0.0005	.	8.253e-05	0.0010	0	0	0	0	0	0	6.47e-05	10	154602	rs144643941	3.215e-05	3.215e-05	3.539e-05	2.888e-05	0.0011	2.478e-05	2.221e-05	0.0008	0.0007	0.0011	2.236e-05	0	0	0	0.0003	8.993e-07	9.935e-05	1.159e-05	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0008	0.0007	0.0010	0	0.0001	0	0	0	0.0034	0	0	0	0.004	0.65419	D	0.003	0.92824	D	0.034	0.20480	B	0.012	0.16012	B	0.000081	0.52346	D	0.083492	0.999926	0.51308	D	2.14	0.59869	M	0.6	0.54347	T	-2.88	0.60507	D	0.137	0.18103	-0.9718	0.36819	T	0.124	0.42799	T	10	0.07106033	0.10423	T	0.031464	0.53543	D	0.101	0.28911	.	.	0.480046427281	0.47636	0.1827288753501871	0.18191	0.171162742702	0.19283	0.454336643219	0.32537	T	0.563514	0.85429	D	-0.325305	0.06472	T	-0.290495	0.45722	T	0.124226953160882	0.14838	T	0.870713	0.57574	D	0.39879507	0.60649	0.40716797	0.65070	0.39879507	0.60649	0.40716797	0.65070	-4.477	0.30586	T	.	.	0.110	0.27672	B	.;.;.;.	.;.;.;.	2.285416	0.29230	18.05	0.99480553476745359	0.66850	0.96637	0.70145	D	AEFBI	0.762581	0.69995	D	0.0800165492118859	0.45531	2.808085	0.219170298048402	0.50910	3.278393	0.999999937291382	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.48	5.48	0.80675	3.943000	0.56332	1.181000	0.24696	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.568	0.76047	844	0.36711	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	736.45	34	chr6	152376831	.	T	C	736.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.561;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=1.73;SOR=0.651	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1099	6	0	1	0
chr6	152430561	152430561	C	T	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon35:c.G4631A:p.R1544Q,SYNE1:NM_182961:exon35:c.G4610A:p.R1537Q	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	YES	265397	not_provided|not_specified|Autosomal_recessive_ataxia,_Beauce_type|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.042	.	.	0.00459265	0.0020	0	8.642e-05	0	0	0	0.0044	0.0147	0.0017723	274	154602	rs369775705	0.0010	0.0010	0.0006	0.0014	0.0154	0.0009	0.0009	0.0147	0.0145	5.974e-05	6.708e-05	0	0	1.872e-05	0	1.529e-05	0.0011	0.0154	0.0007	0.0007	0.0003	0.0010	0.0199	0.0006	0.0005	0.0167	0.0155	9.629e-05	0	0	0	0	0	0	0	0	0.0199	0.063	0.36709	T	0.18	0.30339	T	0.05	0.23728	B	0.007	0.13708	B	0.008369	0.30877	N	0.219077	0.999875	0.19925	N	1.825	0.47900	L	1.38	0.34050	T	-0.84	0.29525	N	0.199	0.44666	-1.0802	0.07310	T	0.034	0.14421	T	10	0.0023553371	0.00035	T	.	.	.	0.042	0.11227	0.355	0.35571	0.247872288689	0.24386	0.10645110168688837	0.10575	0.156741707563	0.17697	0.340836524963	0.16564	T	0.145027	0.48195	T	-0.520557	0.00437	T	-0.508197	0.21501	T	0.0343470849154286	0.02696	T	0.845215	0.52386	T	0.05114782	0.09351	0.066950254	0.13785	0.07165152	0.15878	0.06655741	0.13650	-3.795	0.20730	T	.	.	0.078	0.08560	B	.;.;.;.	.;.;.;.	2.244496	0.28667	17.87	0.95833411657822887	0.27944	0.58246	0.30590	D	AEFI	0.170729	0.29766	N	-0.495052428093416	0.22242	1.186264	-0.313299980749638	0.27668	1.536949	0.00224826414310906	0.09262	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.66	3.88	0.43959	2.561000	0.45567	1.063000	0.23738	-0.171000	0.11205	0.923000	0.32050	0.001000	0.17328	0.861000	0.40843	0.0:0.7801:0.0:0.2199	9.316	0.37097	747	0.52260	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.011364	0.07143	581.63	33	chr6	152430561	.	C	T	581.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.493;DP=263;ExcessHet=0;FS=3.137;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.46;ReadPosRankSum=-0.021;SOR=1.092	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr6	154039668	154039668	T	A	exonic	OPRM1	.	nonsynonymous SNV	OPRM1:NM_000914:exon1:c.T124A:p.S42T,OPRM1:NM_001008503:exon1:c.T124A:p.S42T,OPRM1:NM_001008504:exon1:c.T124A:p.S42T,OPRM1:NM_001008505:exon1:c.T124A:p.S42T,OPRM1:NM_001145282:exon1:c.T124A:p.S42T,OPRM1:NM_001145283:exon1:c.T124A:p.S42T,OPRM1:NM_001145284:exon1:c.T124A:p.S42T,OPRM1:NM_001145285:exon1:c.T124A:p.S42T,OPRM1:NM_001145286:exon1:c.T124A:p.S42T,OPRM1:NM_001285522:exon1:c.T124A:p.S42T,OPRM1:NM_001285523:exon1:c.T124A:p.S42T,OPRM1:NM_001285524:exon2:c.T403A:p.S135T,OPRM1:NM_001145279:exon3:c.T403A:p.S135T	.	421	1073	27	1	0	29	0.0133333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	.	0.0004	0.00179712	0.0023	0.0001	0.0013	0	0	0.0008	0.0023	0.0124	0.0019599	303	154602	rs76546679	0.0011	0.0011	0.0008	0.0015	0.0112	0.0011	0.0011	0.0106	0.0104	2.987e-05	0.0013	0.0005	0	3.746e-05	0.0102	0.0004	0.0016	0.0112	0.0008	0.0008	0.0006	0.0011	0.0091	0.0007	0.0007	0.0070	0.0062	7.216e-05	0	0.0022	0.0003	0.0002	0	0.0034	0.0005	0.0043	0.0091	0.024	0.48642	D	0.069	0.48336	T	0.081	0.40850	B	0.061	0.42166	B	0.962520	0.08214	U	0.977162	0.914176	0.81001	D	0.695	0.17993	N	2.18	0.18875	T	-1.08	0.28084	N	0.139	0.18239	-1.0328	0.19554	T	0.020	0.08360	T	10	0.006665826	0.00151	T	.	.	.	0.163	0.42028	.	.	0.316198179892	0.31222	0.45511110980133274	0.45429	0.053280576852	0.05870	0.608177363873	0.54058	T	0.017584	0.45189	T	-0.439598	0.01300	T	-0.393841	0.34102	T	0.0302764919892629	0.02032	T	0.811819	0.47330	T	0.16551498	0.36828	0.14858486	0.35117	0.16551498	0.36827	0.14858486	0.35116	-3.873	0.21898	T	.	.	0.266	0.50063	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.983720	0.39806	21.0	0.99557280528168701	0.71521	0.00926	0.03595	N	AEFDBHCI	0.227715	0.35149	N	-0.121549881955723	0.36456	2.107419	0.0916358174889391	0.44126	2.700493	0.998891449821908	0.37915	0.487112	0.14033	0	0.563428	0.19063	0	0.606814	0.37721	0	0.564101	0.26826	0	.	.	5.75	5.75	0.90390	3.186000	0.50643	.	.	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.0:1.0	15.041	0.71452	944	0.12746	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.005051	0.002717	0.000000	0.000000	0.017241	0.015244	0.011364	0.1429	3536.34	34	chr6	154039668	.	T	A	3536.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.129;DP=422;ExcessHet=0.3476;FS=1.456;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=0.362;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,89:159:99:1|0:154039662_A_G:2230,0,2611:154039662	5	0	2	0
chr6	155183335	155183335	G	A	exonic	TIAM2	.	nonsynonymous SNV	TIAM2:NM_001384547:exon13:c.G2899A:p.G967R,TIAM2:NM_001384546:exon14:c.G2899A:p.G967R,TIAM2:NM_012454:exon14:c.G2899A:p.G967R	.	436	1032	51	3	0	57	0.0268741	.	.	.	721834	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.111	.	0.0029	0.00539137	0.0056	0.0004	0.0007	0.0001	0.0002	0.0036	0.0077	0.0255	0.0051681	799	154602	rs150560357	0.0038	0.0038	0.0031	0.0045	0.0242	0.0037	0.0036	0.0233	0.0230	0.0006	0.0017	0.0154	0.0001	0.0003	0.0149	0.0023	0.0049	0.0242	0.0025	0.0025	0.0023	0.0028	0.0199	0.0023	0.0023	0.0167	0.0155	0.0004	0	0.0022	0.0127	0.0002	0.0002	0.0204	0.0026	0.0038	0.0199	0.116	0.31088	T	0.539	0.10173	T	0.026	0.20732	B	0.011	0.19653	B	0.065058	0.21909	N	0.500214	1	0.08975	N	0.69	0.16971	N	1.2	0.37405	T	-1.78	0.42957	N	0.196	0.24260	-1.0216	0.23195	T	0.012	0.04700	T	10	0.0063183606	0.00143	T	.	.	.	0.111	0.31313	0.552	0.66856	0.190952846119	0.18690	0.6469867475551525	0.64633	0.263161145302	0.28869	0.396466434002	0.24577	T	0.029083	0.20920	T	-0.475935	0.00782	T	-0.4375	0.29089	T	0.0139145377650393	0.00266	T	0.673133	0.29067	T	0.12168373	0.28610	0.10275124	0.24636	0.12168373	0.28610	0.10275124	0.24635	-8.994	0.67659	D	.	.	0.143	0.35288	B	.;.;.;.;.;.	.;.;.;.;.;.	2.318200	0.29679	18.20	0.9785813049849762	0.36445	0.12320	0.17196	N	ALL	0.091712	0.18575	N	-0.651287987956593	0.17423	0.8964142	-0.546228900401239	0.20905	1.128492	0.999999875409692	0.74766	0.566229	0.32551	0	0.093493	0.02558	3	0.658983	0.55881	0	0.674467	0.66132	0	.	.	5.48	1.97	0.25278	2.769000	0.47338	7.249000	0.57924	0.676000	0.76740	0.096000	0.22710	1.000000	0.68203	0.916000	0.45140	0.1669:0.2426:0.3435:0.247	0.810	0.01021	752	0.51611	PDZ domain|PDZ domain;PDZ domain|PDZ domain;.;.;.;PDZ domain|PDZ domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.017623	0.000000	0.009511	0.029240	0.000000	0.008621	0.024390	0.030303	0.07143	1636.46	33	chr6	155183335	.	G	A	1636.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.24;DP=306;ExcessHet=0;FS=0.669;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=0.892;SOR=0.624	GT:AD:DP:GQ:PL	0/1:54,68:122:99:1647,0,1118	6	0	1	0
chr6	156778072	156778072	C	T	exonic	ARID1B	.	nonsynonymous SNV	ARID1B:NM_001374820:exon1:c.C392T:p.S131F,ARID1B:NM_001374828:exon1:c.C392T:p.S131F,ARID1B:NM_017519:exon1:c.C392T:p.S131F,ARID1B:NM_001371656:exon2:c.C392T:p.S131F	Coffin-Siris syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.856241003708	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1015004964	1.081e-05	1.094e-05	1.138e-05	1.022e-05	3.167e-05	6.49e-06	5.15e-06	7.53e-06	5.89e-06	3.167e-05	0	0	0	0	0	1.298e-05	0	0	6.603e-06	6.57e-06	1.29e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.003	0.68238	D	0.01	0.65728	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	0	0.06538	N	0.92	0.44461	T	-0.02	0.07299	N	0.228	0.25622	-1.0548	0.13093	T	0.064	0.26667	T	7	0.2696181	0.44489	T	0.856241	0.98894	D	0.032	0.07718	0.176	0.08257	0.309943084671	0.30607	0.4526030188365993	0.45178	0.319986332736	0.34200	0.893406271935	0.95677	D	0.012059	0.10661	T	-0.0987618	0.36631	T	-0.379641	0.35764	T	0.394015596585148	0.28717	T	0.435556	0.11926	T	0.14253068	0.32797	0.2738107	0.53303	0.14253068	0.32796	0.2738107	0.53302	-9.98	0.74050	D	.	.	0.225	0.51523	B	.;.;.;.	.;.;.;.	3.062102	0.41128	21.3	0.96624895271978106	0.30495	0.28479	0.23565	N	ALL	0.189580	0.31683	N	-0.109976281278599	0.36958	2.143407	-0.140172796649255	0.33788	1.936528	0.999999999999201	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	2.26	2.26	0.27418	0.954000	0.28772	3.693000	0.39502	0.494000	0.22454	0.975000	0.34726	1.000000	0.68203	0.804000	0.37906	0.0:1.0:0.0:0.0	9.457	0.37927	936	0.14734	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	867.27	23	chr6	156778072	.	C	T	867.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.08;DP=235;ExcessHet=0;FS=0.951;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=0.199;SOR=0.556	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	1	1
chr6	156778665	156778665	G	A	exonic	ARID1B	.	nonsynonymous SNV	ARID1B:NM_001374820:exon1:c.G985A:p.G329S,ARID1B:NM_001374828:exon1:c.G985A:p.G329S,ARID1B:NM_017519:exon1:c.G985A:p.G329S,ARID1B:NM_001371656:exon2:c.G985A:p.G329S	Coffin-Siris syndrome 1, Autosomal dominant	1	1454	61	6	0	73	0.0244884	.	.	.	207349	not_specified|Inborn_genetic_diseases|not_provided|Coffin-Siris_syndrome_1	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900,Orphanet:1465	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.060	.	.	0.000998403	0.0042	0	0	0	.	0.0105	0.0085	0.0020	0.0005304	82	154602	rs375160616	0.0057	0.0054	0.0059	0.0056	0.0212	0.0056	0.0056	0.0179	0.0167	0.0019	0.0047	0.0101	3.289e-05	0.0014	0.0212	0.0063	0.0058	0.0025	0.0047	0.0047	0.0055	0.0040	0.0076	0.0044	0.0043	0.0065	0.0060	0.0012	0.0541	0.0076	0.0090	0	0.0014	0.0208	0.0063	0.0077	0.0019	0.0	0.91255	D	0.502	0.11115	T	0.001	0.07471	B	0.001	0.06944	B	.	.	.	.	0.99806	0.22374	N	1.1	0.28011	L	3.73	0.03982	T	-0.54	0.16598	N	0.119	0.10911	-0.9001	0.47983	T	0.003	0.00897	T	9	0.0049165785	0.00105	T	.	.	.	0.060	0.17295	.	.	0.0934897674506	0.08844	0.13403362991275802	0.13327	0.291417743539	0.31552	0.872212529182	0.92884	D	0.01296	0.11294	T	-0.646012	0.00077	T	-0.697839	0.05944	T	0.0762739138226754	0.09504	T	0.514549	0.19192	T	0.19176523	0.40818	0.24653356	0.50165	0.15059175	0.34276	0.19889103	0.43743	-4.616	0.32372	T	.	.	0.078	0.06756	B	.;.;.;.	.;.;.;.	2.943074	0.39137	20.9	0.97329888956382771	0.33418	0.06818	0.12842	N	AEFDBHCIJ	0.048428	0.08264	N	-0.610752536718014	0.18620	0.9681884	-0.499574705844725	0.22166	1.202612	0.999999168842093	0.74766	0.524318	0.21684	1	0.218748	0.04544	0	0.47417	0.07244	0	0.492483	0.08430	1	.	.	2.65	1.31	0.20837	0.438000	0.21277	7.060000	0.57403	0.397000	0.20528	0.992000	0.37556	1.000000	0.68203	0.962000	0.52141	0.4178:0.0:0.5822:0.0	4.791	0.12619	931	0.16308	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.015432	0.000000	0.000000	0.053922	0.000000	0.000000	0.000000	0.014286	0.08333	587.27	15	chr6	156778665	.	G	A	587.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.57;DP=188;ExcessHet=0;FS=1.157;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=0.298;SOR=0.993	GT:AD:DP:GQ:PL	0/1:24,23:47:99:597,0,487	5	0	1	1
chr6	156778848	156778850	GGC	-	exonic	ARID1B	.	nonframeshift deletion	ARID1B:NM_001374820:exon1:c.1168_1170del:p.G402del,ARID1B:NM_001374828:exon1:c.1168_1170del:p.G402del,ARID1B:NM_017519:exon1:c.1168_1170del:p.G402del,ARID1B:NM_001371656:exon2:c.1168_1170del:p.G402del	Coffin-Siris syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	579302	not_provided|ARID1B-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0647	.	0.0053	0.0094	0	0.0074	.	0.0050	0	0.0054	0.0005886	91	154602	rs752981400	0.0011	0.0062	0.0010	0.0011	0.0042	0.0010	0.0010	0.0035	0.0033	0.0010	0.0042	0.0019	0.0005	0.0015	0.0022	0.0008	0.0014	0.0039	0.0004	0.0005	0.0004	0.0004	0.0013	0.0003	0.0003	0.0008	0.0007	0.0004	0	0.0013	0	0	0	0	0.0004	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	109.59	20	chr6	156778847	.	GGGC	G	109.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.228;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.48;ReadPosRankSum=-0.142;SOR=0.495	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1012	6	0	1	0
chr6	156779017	156779017	C	T	exonic	ARID1B	.	nonsynonymous SNV	ARID1B:NM_001374820:exon1:c.C1337T:p.A446V,ARID1B:NM_001374828:exon1:c.C1337T:p.A446V,ARID1B:NM_017519:exon1:c.C1337T:p.A446V,ARID1B:NM_001371656:exon2:c.C1337T:p.A446V	Coffin-Siris syndrome 1, Autosomal dominant	22	1482	18	0	0	18	0.00603622	.	.	.	579255	ARID1B-related_disorder|Inborn_genetic_diseases|Coffin-Siris_syndrome_1|not_provided	.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900,Orphanet:1465|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.027	0.3450304029	.	.	0	.	.	.	0	.	.	0	3.84e-05	1	26028	rs748273011	0.0004	0.0005	0.0003	0.0005	0.0112	0.0003	0.0003	0.0101	0.0096	0	0.0001	0.0009	3.871e-05	0	0.0043	7.964e-05	0.0006	0.0112	0.0003	0.0003	0.0002	0.0005	0.0068	0.0002	0.0002	0.0049	0.0043	2.549e-05	0	0	0.0012	0	0	0.0083	9.18e-05	0	0.0068	0.0	0.91255	D	0.057	0.46406	T	0.088	0.27649	B	0.003	0.12992	B	.	.	.	.	0.99007	0.24217	N	0	0.06538	N	4.79	0.01539	T	-0.71	0.20145	N	0.11	0.09631	-1.0240	0.22410	T	0.093	0.35498	T	9	0.014846742	0.00312	T	0.34503	0.92118	D	0.027	0.05988	.	.	0.082315109003	0.07666	0.11740363229762577	0.11668	0.291776440169	0.31589	0.841277122498	0.88289	D	0.017492	0.14263	T	-0.221584	0.17779	T	-0.556066	0.16749	T	0.326483676644333	0.26082	T	0.422258	0.12306	T	0.2873827	0.51749	0.44129464	0.67418	0.33354372	0.55760	0.51041013	0.71708	-5.743	0.44074	T	.	.	0.175	0.42259	B	.;.;.;.	.;.;.;.	3.898311	0.56773	23.8	0.91648444414214014	0.20937	0.14825	0.18604	N	AEFDBHCIJ	0.165601	0.29212	N	-0.710792866598018	0.15718	0.7945733	-0.649195058881883	0.18237	0.9733503	0.999999999706503	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.492483	0.08430	1	.	.	1.35	1.35	0.21078	2.329000	0.43535	6.423000	0.55618	0.345000	0.19837	0.980000	0.35271	1.000000	0.68203	0.977000	0.56843	0.0:1.0:0.0:0.0	9.660	0.39114	934	0.15400	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.002688	0.000000	0.000000	0.000000	0.000000	0.000000	0.006494	0.015152	0.08333	296.27	13	chr6	156779017	.	C	T	296.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.21;DP=115;ExcessHet=0;FS=1.657;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=1.37;SOR=0.313	GT:AD:DP:GQ:PL	0/1:14,12:26:99:306,0,352	5	0	1	1
chr6	156779305	156779305	-	GGCGGG	exonic	ARID1B	.	nonframeshift insertion	ARID1B:NM_001374820:exon1:c.1625_1626insGGCGGG:p.A545_A546insGA,ARID1B:NM_001374828:exon1:c.1625_1626insGGCGGG:p.A545_A546insGA,ARID1B:NM_017519:exon1:c.1625_1626insGGCGGG:p.A545_A546insGA,ARID1B:NM_001371656:exon2:c.1625_1626insGGCGGG:p.A545_A546insGA	Coffin-Siris syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3055424	ARID1B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs887711941	0	6.842e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	3.475e-05	3.33e-05	2.713e-05	4.277e-05	4.619e-05	1.316e-05	8.38e-06	1.226e-05	6.4e-06	0	0	0	0	0	0	0	4.619e-05	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	95.35	5	chr6	156779305	.	C	CGGCGGG	95.35	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.21;DP=54;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=1.02;SOR=0.446	GT:AD:DP:GQ:PL	0/0:15,0:15:42:0,42,630	5	0	1	1
chr6	158503306	158503306	C	T	exonic	TULP4	.	nonsynonymous SNV	TULP4:NM_020245:exon13:c.C3643T:p.P1215S	.	431	1075	16	0	0	16	0.00738689	.	.	.	2828089	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.044	0.00776409537166	0.0032	0.00159744	0.0025	9.636e-05	0.0016	0.0001	0.0017	0.0030	0.0055	0.0038	0.0023092	357	154602	rs34395018	0.0026	0.0026	0.0026	0.0027	0.0049	0.0026	0.0025	0.0034	0.0033	0.0002	0.0012	0.0140	7.557e-05	0.0015	0.0049	0.0025	0.0030	0.0038	0.0020	0.0020	0.0021	0.0018	0.0058	0.0018	0.0017	0.0041	0.0036	0.0003	0.0022	0.0014	0.0130	0	0.0008	0	0.0026	0.0019	0.0058	0.185	0.21550	T	0.837	0.03642	T	0.002	0.09854	B	0.003	0.08700	B	0.000108	0.50451	D	0.177152	1	0.81001	D	0.95	0.23787	L	2.02	0.21119	T	-0.68	0.19509	N	0.101	0.08366	-1.0660	0.10316	T	0.019	0.07939	T	10	0.0028075874	0.00044	T	0.007764	0.20589	T	0.044	0.11924	.	.	0.082315109003	0.07666	0.4074727361748247	0.40663	0.23410116099	0.25944	0.423403203487	0.28305	T	0.012719	0.11127	T	-0.528079	0.00394	T	-0.531333	0.19154	T	0.00480502856579419	0.00052	T	0.725627	0.33984	T	0.05243216	0.09778	0.08808948	0.20519	0.05243216	0.09777	0.08808948	0.20518	-4.148	0.25995	T	.	.	0.076	0.05979	B	.	.	1.685817	0.21482	15.22	0.86066393770840699	0.16291	0.90874	0.52424	D	AEFDBI	0.191881	0.31906	N	-0.52677038843786	0.21218	1.124423	-0.43622951719758	0.23941	1.308365	0.97568999832254	0.29655	0.706298	0.61202	0	0.577304	0.33150	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.08	3.28	0.36691	1.774000	0.38203	1.394000	0.26140	0.599000	0.40250	0.994000	0.38300	0.974000	0.29927	0.739000	0.35404	0.0:0.738:0.262:0.0	15.500	0.75421	693	0.58582	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.000000	0.001359	0.000000	0.000000	0.017241	0.021341	0.007576	0.1429	3594.26	43	chr6	158503306	.	C	T	3594.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.196;DP=468;ExcessHet=0.3476;FS=0.44;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.529;SOR=0.659	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1568	5	0	2	0
chr6	159236263	159236263	A	G	exonic	FNDC1	.	nonsynonymous SNV	FNDC1:NM_032532:exon12:c.A4016G:p.N1339S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.00944474300348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.139	0.33666	T	0.976	0.58310	D	0.609	0.51053	P	0.001223	0.39743	N	0.247530	0.990054	0.41078	D	2.455	0.71248	M	2.95	0.09635	T	-1.79	0.42191	N	0.418	0.45803	-1.0701	0.09391	T	0.031	0.13286	T	10	0.2499285	0.42312	T	0.009445	0.24739	T	0.079	0.23065	0.231	0.15855	0.512942373286	0.50937	0.2464024205292192	0.24554	0.126849110582	0.14296	0.308727443218	0.11715	T	0.016797	0.13813	T	-0.213881	0.18835	T	-0.545001	0.17808	T	0.799837350845337	0.46342	D	0.735426	0.35200	T	0.07532811	0.16965	0.108654074	0.26175	0.07532811	0.16965	0.108654074	0.26175	-3.384	0.14842	T	.	.	0.074	0.04889	B	.	.	2.403046	0.30876	18.57	0.99465963747578701	0.66049	0.90263	0.51301	D	AEFDBI	0.617310	0.60354	D	0.322582616924712	0.57309	3.897794	0.307234494736572	0.55963	3.759278	0.128519375027603	0.17041	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.09	3.89	0.44098	3.526000	0.53265	5.012000	0.46677	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8569:0.0:0.0:0.1431	11.088	0.47317	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1134.53	37	chr6	159236263	.	A	G	1134.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.403;DP=265;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.778;SOR=0.716	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr6	159682532	159682532	C	T	exonic	SOD2	.	stopgain	SOD2:NM_001024466:exon4:c.G513A:p.W171X,SOD2:NM_001322814:exon4:c.G513A:p.W171X,SOD2:NM_001322815:exon4:c.G450A:p.W150X,SOD2:NM_000636:exon5:c.G630A:p.W210X,SOD2:NM_001024465:exon5:c.G630A:p.W210X,SOD2:NM_001322819:exon5:c.G492A:p.W164X,SOD2:NM_001322820:exon5:c.G492A:p.W164X,SOD2:NM_001322817:exon7:c.G492A:p.W164X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.74	0.81857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574913	0.96804	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.;.;.;.	High;High;.;.;.;.	8.758733	0.97983	38	0.99444695447487863	0.64971	0.94447	0.61195	D	AEFDBCIJ	0.311096	0.41692	N	0.900550967993602	0.91786	11.06385	0.786354915685323	0.88828	9.73137	0.999999999976672	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.98	5.11	0.69188	7.813000	0.84661	7.578000	0.60885	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8756:0.1243:0.0	17.431	0.87431	720	0.55521	Manganese/iron superoxide dismutase, C-terminal;Manganese/iron superoxide dismutase, C-terminal;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1464.46	33	chr6	159682532	.	C	T	1464.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.007;DP=305;ExcessHet=0;FS=1.485;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.649;SOR=0.859	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1353	6	0	1	0
chr6	159806021	159806021	A	C	exonic	PNLDC1	.	nonsynonymous SNV	PNLDC1:NM_001271862:exon7:c.A500C:p.E167A,PNLDC1:NM_173516:exon7:c.A467C:p.E156A	.	432	1058	29	3	0	35	0.0162715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0050	0.00519169	0.0064	0.0012	0.0046	0	0.0054	0.0055	0.0110	0.0179	0.0061254	947	154602	rs146392472	0.0061	0.0061	0.0057	0.0065	0.0181	0.0060	0.0059	0.0173	0.0170	0.0009	0.0042	0.0051	2.519e-05	0.0054	0.0166	0.0056	0.0064	0.0181	0.0045	0.0045	0.0043	0.0047	0.0174	0.0043	0.0041	0.0144	0.0133	0.0011	0	0.0044	0.0037	0.0004	0.0029	0.0034	0.0063	0.0071	0.0174	0.025	0.47320	D	0.016	0.61642	D	0.243	0.33195	B	0.183	0.35961	B	0.052386	0.22898	N	0.442842	0.999982	0.18198	N	2.595	0.75868	M	.	.	.	-2.22	0.49846	N	0.416	0.49146	-1.0514	0.14009	T	0.043	0.18410	T	9	0.007142067	0.00162	T	.	.	.	0.038	0.09825	.	.	0.276482976112	0.27267	0.4509988585740375	0.45017	0.36332536221	0.37963	0.265277177095	0.05535	T	0.208192	0.56805	T	-0.412569	0.01912	T	-0.351778	0.39000	T	0.0187307143406989	0.00586	T	0.854015	0.53996	D	0.14637151	0.33511	0.14839086	0.35078	0.14637151	0.33511	0.14839086	0.35077	-6.699	0.51803	T	.	.	0.133	0.28778	B	.;.	.;.	2.142681	0.27288	17.41	0.98660465239849338	0.44317	0.81536	0.40920	D	AEFDBHCI	0.166051	0.29260	N	-0.339153688440127	0.27672	1.52017	-0.299622933287084	0.28111	1.564821	0.999996483160134	0.74766	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	5.76	3.4	0.38031	2.895000	0.48347	7.857000	0.71250	0.751000	0.87719	0.934000	0.32416	1.000000	0.68203	0.380000	0.26335	0.8948:0.0:0.1052:0.0	9.562	0.38538	900	0.24599	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.000000	0.014946	0.014620	0.000000	0.043103	0.015244	0.007576	0.07143	2375.63	38	chr6	159806021	.	A	C	2375.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.384;DP=389;ExcessHet=0;FS=1.12;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-0.293;SOR=0.694	GT:AD:DP:GQ:PL	0/1:91,101:192:99:2386,0,2094	6	0	1	0
chr6	160027227	160027227	C	T	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon6:c.C689T:p.P230L	Hepatocellular carcinoma, somatic	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00270619618243	7.7e-05	.	2.497e-05	0	0	0	0	4.545e-05	0	0	1.94e-05	3	154602	rs367819391	3.899e-05	3.899e-05	2.722e-05	5.088e-05	0.0002	3.047e-05	2.783e-05	3.765e-05	2.662e-05	0	0	0	0	0	0.0002	3.777e-05	0.0001	8.115e-05	6.568e-06	6.566e-06	0	1.344e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.294	0.14793	T	0.288	0.21144	T	0.001	0.07471	B	0.001	0.04355	B	0.355562	0.04272	N	1.341150	0.999994	0.08975	N	.	.	.	2.47	0.14783	T	-2.66	0.56945	D	0.098	0.07949	-0.9572	0.39699	T	0.007	0.02558	T	10	0.07664204	0.11999	T	0.002706	0.05550	T	0.009	0.00846	.	.	0.200294437569	0.19612	0.29073885813832195	0.28986	0.0941277543069	0.10624	0.234187468886	0.02292	T	0.139657	0.47380	T	-0.463566	0.00934	T	-0.711975	0.05194	T	0.0256856736550977	0.01363	T	0.432757	0.11777	T	0.13939586	0.32201	0.120060965	0.28977	0.13939586	0.32201	0.120060965	0.28976	-5.329	0.40229	T	.	.	0.065	0.01960	B	.;.	.;.	0.222558	0.06049	2.490	0.61167925717414606	0.06642	0.06199	0.12184	N	AEFDBI	0.045898	0.07560	N	-1.29800139599903	0.03700	0.1657461	-1.3344245118023	0.03992	0.1874142	0.9999695066381	0.48965	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.22	-2.89	0.05326	-1.126000	0.03365	-1.397000	0.05536	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.3086:0.2984:0.2028:0.1902	0.904	0.01200	794	0.45591	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	410.49	33	chr6	160027227	.	C	T	410.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.878;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=-1.334;SOR=0.793	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1191	6	0	1	0
chr6	160048478	160048478	C	G	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon18:c.C2449G:p.L817V	Hepatocellular carcinoma, somatic	427	993	99	3	0	105	0.0502152	.	.	.	699422	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.125	.	0.0062	0.0071885	0.0094	0.0009	0.0062	0	0.0056	0.0092	0.0154	0.0237	0.0086739	1341	154602	rs8191808	0.0072	0.0072	0.0064	0.0080	0.0397	0.0071	0.0071	0.0355	0.0339	0.0009	0.0059	0.0307	5.038e-05	0.0058	0.0397	0.0056	0.0098	0.0237	0.0059	0.0059	0.0059	0.0059	0.0215	0.0056	0.0055	0.0182	0.0169	0.0010	0.0066	0.0050	0.0288	0.0006	0.0061	0.0442	0.0069	0.0085	0.0215	0.088	0.32296	T	0.012	0.63918	D	0.981	0.59675	D	0.832	0.59730	P	0.000462	0.44119	D	0.151190	0.999783	0.49076	D	.	.	.	3.84	0.03675	T	-1.35	0.33598	N	0.529	0.55799	-1.0289	0.20811	T	0.017	0.06998	T	10	0.005435288	0.00120	T	.	.	.	0.125	0.34456	.	.	0.391520894214	0.38767	0.6234013171663959	0.62273	0.452284579307	0.44955	0.323376655579	0.13932	T	0.135816	0.46784	T	-0.458906	0.00998	T	-0.413039	0.31874	T	0.0227990608119091	0.01000	T	0.867113	0.56785	D	0.13013394	0.30373	0.119077824	0.28742	0.1522377	0.34567	0.119077824	0.28741	-6.3	0.48722	T	.	.	0.127	0.27069	B	.;.	.;.	3.252730	0.44454	21.9	0.99696098389600929	0.80316	0.90954	0.52577	D	AEFBI	0.374056	0.45910	N	0.461876900785595	0.64879	4.752795	0.419132398140247	0.62757	4.496646	0.998863673749533	0.37845	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.3	4.31	0.50718	1.419000	0.34400	3.200000	0.36746	0.599000	0.40250	0.796000	0.29669	0.998000	0.33993	0.927000	0.46353	0.0:0.8324:0.0:0.1676	10.337	0.43037	784	0.47045	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.025706	0.005051	0.014946	0.049708	0.000000	0.025862	0.036810	0.018939	0.1429	3433.24	36	chr6	160048478	.	C	G	3433.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.075;DP=485;ExcessHet=0.3476;FS=1.312;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=0.61;SOR=0.607	GT:AD:DP:GQ:PL	0/1:95,77:172:99:1727,0,2249	5	0	2	0
chr6	160075878	160075878	T	C	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon36:c.T5198C:p.L1733P	Hepatocellular carcinoma, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.0306777176214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.004	0.74150	D	0.968	0.56581	D	0.857	0.61067	P	0.121196	0.19005	N	0.524332	1	0.81001	D	.	.	.	2.69	0.12268	T	-3.94	0.73378	D	0.632	0.64563	-1.1257	0.01999	T	0.062	0.25958	T	10	0.81614983	0.80853	D	0.030678	0.52936	D	0.336	0.65816	0.721	0.85585	0.432376951215	0.42856	0.9034441852949975	0.90317	1.52902459081	0.87555	0.440025866032	0.30580	T	0.294862	0.66753	T	0.00114482	0.51812	T	-0.236132	0.51175	T	0.951098203659058	0.63483	D	0.659534	0.26859	T	0.90437967	0.91777	0.83297163	0.90379	0.90437967	0.91779	0.83297163	0.90380	-7.008	0.54092	T	.	.	0.492	0.64196	A	.;.	.;.	3.886481	0.56525	23.7	0.9990976413893855	0.97949	0.97599	0.75810	D	AEFBI	0.757444	0.69640	D	0.635345496790111	0.75424	6.303263	0.598946228549834	0.74863	6.210195	0.998478521596233	0.37033	0.732398	0.92422	0	0.698795	0.70079	0	0.702456	0.68683	0	0.727631	0.95156	0	.	.	5.31	5.31	0.75063	5.513000	0.66754	7.789000	0.68848	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.720000	0.34772	0.0:0.0:0.0:1.0	15.564	0.76014	607	0.67291	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1747.44	33	chr6	160075878	.	T	C	1747.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.186;DP=349;ExcessHet=0;FS=2.714;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.016;SOR=0.514	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1287	6	0	1	0
chr6	160080143	160080143	G	A	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon39:c.G5701A:p.V1901I	Hepatocellular carcinoma, somatic	426	1092	4	0	0	4	0.00182815	.	.	.	710307	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.106	.	0.0085	0.00419329	0.0068	0.0109	0.0034	0	0.0064	0.0094	0.0022	0.0002	0.006811	1053	154602	rs76130099	0.0086	0.0086	0.0089	0.0083	0.0105	0.0085	0.0084	0.0098	0.0098	0.0105	0.0031	0.0008	5.038e-05	0.0081	0.0019	0.0100	0.0078	0.0006	0.0086	0.0086	0.0088	0.0083	0.0116	0.0082	0.0080	0.0107	0.0104	0.0116	0.0011	0.0056	0.0006	0	0.0092	0	0.0092	0.0057	0.0006	0.091	0.31834	T	0.081	0.41742	T	0.0	0.02946	B	0.0	0.01387	B	0.771736	0.09543	N	0.906581	1	0.08975	N	.	.	.	0.98	0.42122	T	-0.17	0.09627	N	0.035	0.01004	-0.9761	0.35882	T	0.031	0.13286	T	10	0.0041763186	0.00083	T	.	.	.	0.106	0.30130	.	.	0.257342827899	0.25358	0.31332803680986493	0.31245	0.324506436646	0.34611	0.287161797285	0.08510	T	0.214586	0.57622	T	-0.666158	0.00058	T	-0.719278	0.04831	T	0.00904288406811627	0.00113	T	0.351565	0.07865	T	0.05379327	0.10230	0.054880302	0.09522	0.06840943	0.14901	0.054880302	0.09521	-4.5	0.30889	T	.	.	0.073	0.04599	B	.;.	.;.	1.692309	0.21561	15.25	0.76105273933243756	0.11335	0.77248	0.37960	D	AEFBCI	0.182026	0.30934	N	-0.96359037734644	0.09390	0.444202	-0.898165217537696	0.12137	0.6225977	0.271452905788446	0.18896	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.5	1.62	0.22817	2.043000	0.40854	5.718000	0.49457	-1.611000	0.00880	0.971000	0.34370	1.000000	0.68203	0.002000	0.04165	0.2095:0.0:0.7905:0.0	11.785	0.51308	607	0.67291	Fibronectin type II domain|Fibronectin type II domain|Fibronectin type II domain;Fibronectin type II domain|Fibronectin type II domain|Fibronectin type II domain	.	.	.	.	rs76130099	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.005051	0.002717	0.011696	0.000000	0.000000	0.000000	0.000000	0.07143	1134.46	33	chr6	160080143	.	G	A	1134.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.86;DP=278;ExcessHet=0;FS=1.625;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.988;SOR=0.542	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1205	6	0	1	0
chr6	161139586	161139586	G	A	exonic	AGPAT4	.	nonsynonymous SNV	AGPAT4:NM_020133:exon8:c.C878T:p.T293I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0119487896446	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1479412309	6.843e-07	6.84e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	1.97e-05	1.968e-05	2.57e-05	1.344e-05	0.0002	5.24e-06	2.45e-06	7.98e-06	2.98e-06	4.813e-05	0	0	0	0	0	0	0	0	0.0002	0.227	0.18498	T	0.213	0.26467	T	0.0	0.02946	B	0.001	0.04355	B	0.596028	0.11003	N	0.836229	1	0.08975	N	1.08	0.27187	L	1.47	0.31987	T	-2.0	0.46146	N	0.113	0.10056	-0.9741	0.36323	T	0.019	0.08126	T	10	0.08887109	0.15343	T	0.011949	0.30076	T	0.021	0.04004	0.316	0.29258	0.043077524339	0.03247	0.32973086744049046	0.32886	0.795556768114	0.66026	0.384480178356	0.22890	T	0.112059	0.42804	T	-0.336844	0.05610	T	-0.72163	0.04717	T	0.0938196778297424	0.11664	T	0.419858	0.11135	T	0.048303947	0.08396	0.06462313	0.12978	0.048303947	0.08396	0.06462313	0.12978	-4.636	0.32621	T	.	.	0.075	0.05668	B	.	.	1.620281	0.20694	14.87	0.99132818409249923	0.53302	0.30397	0.24072	N	AEFBCI	0.036488	0.04869	N	-0.492991783003352	0.22309	1.190377	-0.370199737402445	0.25890	1.426607	0.858850227393866	0.25186	0.651	0.46895	0	0.550933	0.16991	0	0.643519	0.47002	0	0.683762	0.67416	0	.	.	5.17	2.59	0.30091	0.647000	0.24500	3.619000	0.39279	0.660000	0.55035	0.690000	0.28531	1.000000	0.68203	0.912000	0.44740	0.3856:0.0:0.6144:0.0	7.564	0.27033	870	0.31527	Acyltransferase, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	867.63	35	chr6	161139586	.	G	A	867.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.01;DP=257;ExcessHet=0;FS=4.207;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=0.819;SOR=1.179	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1062	6	0	1	0
chr6	165395227	165395227	G	C	exonic	PDE10A	.	nonsynonymous SNV	PDE10A:NM_001130690:exon15:c.C1459G:p.P487A,PDE10A:NM_001385079:exon15:c.C2257G:p.P753A,PDE10A:NM_006661:exon16:c.C1429G:p.P477A	Dyskinesia, limb and orofacial, infantile-onset, Autosomal recessive;Striatal degeneration, autosomal dominant, Autosomal dominant	427	1092	3	0	0	3	0.00137174	.	.	.	413738	not_provided|PDE10A-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.514	0.0303236808807	0.0055	0.00239617	0.0045	0.0020	0.0012	0	0.0035	0.0072	0.0011	0.0005	0.0048253	746	154602	rs61733392	0.0069	0.0070	0.0072	0.0067	0.0084	0.0068	0.0068	0.0083	0.0082	0.0010	0.0017	0.0070	0	0.0032	0.0014	0.0084	0.0052	0.0004	0.0047	0.0047	0.0051	0.0042	0.0079	0.0044	0.0043	0.0073	0.0071	0.0017	0.0033	0.0025	0.0058	0	0.0025	0	0.0079	0.0061	0.0010	.	.	.	.	.	.	0.108	0.26116	B	0.024	0.20255	B	0.000002	0.62929	D	0.103311	1	0.81001	D	2.25	0.63811	M	.	.	.	.	.	.	.	.	-0.5835	0.65478	T	0.327	0.69547	T	10	0.0108220875	0.00239	T	0.030324	0.52661	D	0.514	0.79217	.	.	0.596215507535	0.59301	0.9564011803098554	0.95625	1.68445801464	0.90041	0.610611796379	0.54402	T	0.02402	0.54383	T	-0.124018	0.32469	T	0.0537859	0.73833	D	0.0421576177729157	0.04083	T	0.966803	0.87909	D	0.32890666	0.55382	0.17875467	0.40566	0.36651084	0.58326	0.20650785	0.44867	-7.634	0.58952	D	.	.	0.383	0.60894	A	.;.;.;.;.;.	.;.;.;.;.;.	4.314174	0.65970	24.9	0.9649163388610511	0.30009	0.99424	0.95853	D	AEFI	0.914466	0.87786	D	0.306150848548784	0.56464	3.811105	0.445242379398757	0.64412	4.695797	0.9999999978744	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.57	5.57	0.84021	9.638000	0.97833	11.697000	0.94442	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.563	0.95373	993	0.01300	.;.;.;.;.;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	483.83	50	chr6	165395227	.	G	C	483.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.26;DP=223;ExcessHet=0;FS=1.064;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=-0.528;SOR=0.874	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1101	6	0	1	0
chr6	165413508	165413508	C	A	exonic	PDE10A	.	nonsynonymous SNV	PDE10A:NM_001130690:exon13:c.G1271T:p.C424F,PDE10A:NM_001385079:exon13:c.G2069T:p.C690F,PDE10A:NM_006661:exon14:c.G1241T:p.C414F	Dyskinesia, limb and orofacial, infantile-onset, Autosomal recessive;Striatal degeneration, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.519	0.0534681553146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.15914	B	0.012	0.16012	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.85	0.49092	L	.	.	.	.	.	.	.	.	-0.2816	0.75497	T	0.386	0.74143	T	10	0.6804834	0.71249	D	0.053468	0.65479	D	0.519	0.79522	.	.	0.484294873522	0.48060	0.992610586846299	0.99257	1.2000544037	0.80508	0.947374939919	0.99689	D	0.004611	0.44341	T	0.310316	0.83770	D	0.207971	0.83558	D	0.777307033538818	0.44883	D	0.954605	0.82717	D	0.672397	0.76561	0.5027051	0.71253	0.672397	0.76562	0.5027051	0.71253	-11.831	0.85806	D	.	.	0.853	0.84656	P	.;.;.;.;.;.	.;.;.;.;.;.	4.343015	0.66645	25.0	0.83612001998304963	0.14821	0.98864	0.87871	D	AEFBI	0.953124	0.96916	D	0.50217181588647	0.67218	5.052445	0.595418068433592	0.74609	6.166569	0.999999999012864	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	5.63	5.63	0.86108	7.414000	0.79329	7.599000	0.61500	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.710	0.96085	985	0.02828	.;.;.;.;.;GAF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	35	chr6	165413508	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1172	6	1	0	0
chr6	166929671	166929671	T	C	exonic	RNASET2	.	nonsynonymous SNV	RNASET2:NM_003730:exon9:c.A688G:p.N230D	Leukoencephalopathy, cystic, without megalencephaly, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00416908728529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	3.826e-05	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.822	0.02997	T	0.691	0.06762	T	0.0	0.02946	B	0.0	0.01387	B	0.010930	0.01290	N	8.658090	1	0.08975	N	-0.49	0.02651	N	-0.0	0.62608	T	1.09	0.01369	N	0.065	0.09066	-1.0681	0.09836	T	0.029	0.12541	T	10	0.036616474	0.01970	T	0.004169	0.10026	T	0.033	0.08068	0.295	0.25881	0.231231049324	0.22751	0.4032183403297992	0.40237	0.259623980791	0.28522	0.263087540865	0.05263	T	0.005106	0.09096	T	-0.267462	0.12042	T	-0.621967	0.11032	T	0.0527863316237926	0.05982	T	0.221078	0.02846	T	0.037941933	0.04961	0.04012519	0.04266	0.037941933	0.04960	0.04012519	0.04266	-2.171	0.03902	T	.	.	0.052	0.00767	B	.;.;.;.;.	.;.;.;.;.	-0.775416	0.01156	0.055	0.38710642929105304	0.02627	0.00926	0.03595	N	AEFDBCI	0.041149	0.06218	N	-1.60720347023567	0.01228	0.05343935	-1.5773134965913	0.01794	0.08168961	0.953618560608439	0.28083	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.45	-0.612	0.11016	-0.586000	0.05880	-3.649000	0.02631	-0.876000	0.02500	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4748:0.0:0.5252	7.595	0.27209	994	0.00715	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	36	chr6	166929671	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1171	6	1	0	0
chr6	167969861	167969861	G	C	exonic	AFDN	.	nonsynonymous SNV	AFDN:NM_001207008:exon32:c.G5158C:p.G1720R,AFDN:NM_001291964:exon33:c.G5272C:p.G1758R,AFDN:NM_001366319:exon33:c.G5395C:p.G1799R,AFDN:NM_001366320:exon33:c.G5401C:p.G1801R,AFDN:NM_001366321:exon33:c.G5380C:p.G1794R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0729701386679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.31	0.66127	M	1.75	0.37405	T	-2.83	0.60188	D	0.638	0.81459	-0.5680	0.66095	T	0.310	0.68066	T	10	0.40512133	0.55839	T	0.07297	0.71670	D	0.339	0.66106	0.205	0.12076	0.0934897674506	0.08844	0.2055390791248662	0.20470	.	.	0.724009692669	0.70632	T	0.06749	0.90084	T	0.0590627	0.59496	T	-0.152937	0.58983	T	0.998597204685211	0.94592	D	0.985601	0.97476	D	0.6287985	0.74234	0.7025064	0.82467	0.6287985	0.74235	0.7025064	0.82468	-5.807	0.44635	T	.	.	0.965	0.89712	P	.;.;.;.;.	.;.;.;.;.	4.644820	0.73984	26.1	0.99932203485745685	0.99439	0.99270	0.93736	D	AEFDBI	0.936670	0.93334	D	0.529026191356165	0.68813	5.269258	0.581455114840993	0.73612	5.99887	0.999999999995582	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.26	5.26	0.73479	9.312000	0.95349	9.835000	0.81886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.224	0.93795	.	.	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	536.83	36	chr6	167969861	.	G	C	536.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.501;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.928;SOR=0.605	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,985	6	0	1	0
chr6	167976271	167976271	T	0	exonic	HGC6.3	.	.	.	.	531	815	51	0	125	176	0.0303391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1161.15	37	chr6	167976271	.	T	*	1161.15	.	AC=2;AF=0.167;AN=12;DP=319;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=41.25;QD=11.06;SOR=0.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,28:73:99:0|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:873,0,1686:167976249	4	0	2	1
chr6	167976273	167976273	A	0	exonic	HGC6.3	.	.	.	.	664	522	164	53	119	389	0.205479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1243.27	37	chr6	167976273	.	A	*	1243.27	.	AC=2;AF=0.167;AN=12;DP=318;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=42.58;QD=11.62;SOR=0.69	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,28:73:99:0|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:873,0,1686:167976249	4	0	2	1
chr6	167976287	167976287	T	0	exonic	HGC6.3	.	.	.	.	7	149	13	0	57	70	0.0418006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	75.14	37	chr6	167976287	.	T	*	75.14	.	AC=1;AF=0.083;AN=12;DP=303;ExcessHet=0;FS=8.036;MLEAC=1;MLEAF=0.083;MQ=60;QD=1;SOR=1.268	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,28:73:99:0|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:873,0,1686:167976249	5	0	1	1
chr6	167976288	167976288	T	0	exonic	HGC6.3	.	.	.	.	556	780	60	5	121	191	0.0429448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	75.14	37	chr6	167976288	.	T	*	75.14	.	AC=1;AF=0.083;AN=12;DP=303;ExcessHet=0;FS=8.036;MLEAC=1;MLEAF=0.083;MQ=60;QD=1;SOR=1.268	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,28:73:99:0|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:873,0,1686:167976249	5	0	1	1
chr6	168308990	168308990	G	A	exonic	DACT2	.	nonsynonymous SNV	DACT2:NM_001286350:exon3:c.C257T:p.P86L,DACT2:NM_214462:exon4:c.C767T:p.P256L	.	385	1135	2	0	0	2	0.000880282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00625318443322	.	0.000199681	0.0002	0	0	0	0	0	0.0062	0.0003	2.59e-05	4	154602	rs557143737	2.72e-05	2.873e-05	1.13e-05	4.354e-05	0.0004	2.022e-05	1.771e-05	0.0003	0.0002	0	8.406e-05	0	5.596e-05	0	0	1.854e-06	0	0.0004	3.282e-05	3.281e-05	0	6.712e-05	0.0004	1.26e-05	7.97e-06	7.287e-05	3.028e-05	0	0	6.532e-05	0	0	0	0	2.94e-05	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.001	0.04355	B	0.104520	0.19700	N	0.464657	0.999909	0.29637	N	-1.975	0.00204	N	1.22	0.37052	T	1.89	0.00461	N	0.05	0.05287	-0.9440	0.41976	T	0.005	0.01688	T	10	0.015680939	0.00329	T	0.006253	0.16406	T	0.070	0.20419	0.336	0.32491	0.0138822411134	0.00435	0.058312770654189966	0.05772	.	.	0.259667128325	0.04852	T	0.044805	0.26927	T	-0.564216	0.00239	T	-0.752041	0.03407	T	0.00983956973385142	0.00130	T	0.470053	0.13899	T	0.028870532	0.02291	0.030175356	0.01442	0.028870532	0.02290	0.030175356	0.01442	-2.534	0.06018	T	.	.	0.072	0.04238	B	.;.	.;.	0.273434	0.06509	2.989	0.4548933884034112	0.03574	0.00719	0.03031	N	AEFDBI	.	.	.	-1.54073743668531	0.01589	0.06944841	-1.40673815638005	0.03184	0.1480131	0.95218938723758	0.28001	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.09	-0.444	0.11634	2.548000	0.45455	3.959000	0.40733	-0.865000	0.02600	0.359000	0.25834	0.092000	0.22550	0.000000	0.00833	0.7257:0.0:0.2743:0.0	7.248	0.25307	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1315.63	40	chr6	168308990	.	G	A	1315.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.03;DP=273;ExcessHet=0;FS=0.825;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=-0.164;SOR=0.579	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr6	168310420	168310420	A	G	exonic	DACT2	.	nonsynonymous SNV	DACT2:NM_001286351:exon3:c.T406C:p.S136P,DACT2:NM_214462:exon3:c.T406C:p.S136P	.	415	1105	2	0	0	2	0.000904159	.	.	.	3236663	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.422	0.1717364263	.	.	5.134e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs745324019	7.865e-06	7.525e-06	5.643e-06	1.015e-05	0.0005	4.22e-06	3.09e-06	0.0001	7.654e-05	0	0	3.979e-05	0	0	0.0005	1.854e-06	3.45e-05	3.792e-05	1.313e-05	1.312e-05	0	2.685e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000081	0.52346	D	0.135355	0.999935	0.51612	D	2.395	0.69210	M	-0.17	0.65563	T	-4.98	0.82141	D	0.694	0.69913	-0.4405	0.70714	T	0.283	0.65448	T	10	0.55387104	0.64407	D	0.171736	0.84892	D	0.422	0.73078	.	.	0.241078983079	0.23725	0.43652928838757793	0.43569	.	.	0.676907300949	0.63826	T	0.444972	0.78817	T	0.136867	0.68026	D	0.0664806	0.74675	D	0.972972869873047	0.69910	D	0.840116	0.55677	T	0.827809	0.85751	0.80772406	0.88756	0.827809	0.85752	0.80772406	0.88756	-9.284	0.71640	D	.	.	0.496	0.67140	A	.;.	.;.	4.483380	0.69966	25.5	0.99737774453019223	0.83264	0.96519	0.69544	D	AEFBI	.	.	.	0.451671470356655	0.64298	4.681168	0.366014232964302	0.59480	4.126025	0.99998491546807	0.51787	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.58	4.58	0.56077	7.444000	0.79646	10.447000	0.83349	0.683000	0.82448	1.000000	0.71638	1.000000	0.68203	0.431000	0.27472	1.0:0.0:0.0:0.0	11.701	0.50837	739	0.53257	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1347.83	37	chr6	168310420	.	A	G	1347.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.065;DP=274;ExcessHet=0;FS=0.787;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=0.43;SOR=0.546	GT:AD:DP:GQ:PL	0/1:41,52:93:99:1358,0,1006	6	0	1	0
chr6	169704085	169704085	C	T	exonic	PHF10	.	nonsynonymous SNV	PHF10:NM_018288:exon12:c.G1415A:p.R472H,PHF10:NM_133325:exon12:c.G1409A:p.R470H	.	434	1085	3	0	0	3	0.00138058	.	.	.	2425208	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.251	0.0242583705988	0.0002	.	0.0003	9.897e-05	8.688e-05	0	0	0.0005	0	6.105e-05	0.0002652	41	154602	rs148902304	0.0004	0.0004	0.0004	0.0004	0.0030	0.0003	0.0003	0.0019	0.0016	3.272e-05	0.0002	0	0	0	0.0030	0.0004	0.0004	0.0002	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	4.814e-05	0	6.543e-05	0	0	9.441e-05	0.0068	0.0006	0	0	0.165	0.23271	T	0.272	0.29153	T	0.025	0.36353	B	0.007	0.27432	B	0.000001	0.84330	D	0.097141	0.999972	0.81001	D	1.125	0.28843	L	-1.9	0.84628	D	-1.94	0.45042	N	0.458	0.50056	-0.4487	0.70443	T	0.272	0.64412	T	10	0.2258035	0.39419	T	0.024258	0.47246	T	0.251	0.56024	.	.	0.734209617351	0.73183	0.34825290879364	0.34739	0.642214380187	0.57793	0.795113682747	0.81219	T	0.064257	0.32388	T	-0.217305	0.18363	T	-0.229911	0.51779	T	0.0332748778164387	0.02516	T	0.885611	0.62800	D	0.19651626	0.41482	0.13818283	0.33008	0.19651626	0.41482	0.13818283	0.33007	-6.26	0.48619	T	.	.	0.170	0.37407	B	.;.;.	.;.;.	4.065162	0.60355	24.2	0.99418440884271686	0.63645	0.87435	0.46974	D	AEFDBCI	0.549235	0.56220	D	-0.00539596092224121	0.41610	2.492	0.178254516278885	0.48656	3.078741	0.999999902358125	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.662677	0.59975	0	0.651492	0.60203	0	.	.	6.17	5.31	0.75063	3.176000	0.50564	7.686000	0.65553	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9317:0.0:0.0683	14.878	0.70147	976	0.04745	.;Zinc finger, PHD-finger|Zinc finger, PHD-finger|Zinc finger, PHD-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	256.94	23	chr6	169704085	.	C	T	256.94	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.91;DP=159;ExcessHet=0;FS=5.402;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=1.29;SOR=0.197	GT:AD:DP:GQ:PL	0/0:38,0:38:90:0,90,1350	6	0	1	0
chr6	170561958	170561958	-	CAGCAG	exonic	TBP	.	nonframeshift insertion	TBP:NM_001172085:exon2:c.162_163insCAGCAG:p.Q75_A76insQQ,TBP:NM_003194:exon3:c.222_223insCAGCAG:p.Q95_A96insQQ	Spinocerebellar ataxia 17, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	439062	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0008	9.758e-05	0.0005	0	0.0004	0.0015	0.0032	0.0001153	3	26028	rs775224229	0.0048	0.0050	0.0046	0.0050	0.0104	0.0047	0.0046	0.0098	0.0096	0.0037	0.0034	0.0005	0.0060	0.0011	0.0038	0.0046	0.0054	0.0104	0.0042	0.0045	0.0045	0.0039	0.0130	0.0039	0.0038	0.0103	0.0094	0.0039	0	0.0035	0	0.0085	0.0009	0	0.0044	0.0030	0.0130	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1999.19	83	chr6	170561958	.	A	ACAGCAG	1999.19	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.75;DP=757;ExcessHet=0.3476;FS=0.678;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.39;ReadPosRankSum=-1.693;SOR=0.598	GT:AD:DP:GQ:PL	0/0:145,0:145:99:0,120,1800	6	0	1	0
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	5108.06	49	chr6	170561964	.	G	*	5108.06	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.991;DP=760;ExcessHet=0.4813;FS=1.376;MLEAC=3;MLEAF=0.214;MQ=59.96;MQRankSum=0;QD=12.83;ReadPosRankSum=2.57;SOR=0.778	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,102:102:99:1|1:170561949_GCAA_G:4376,312,0:170561949	5	1	1	0
chr7	290725	290725	C	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.C180G:p.D60E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401769274	1.508e-05	0.0005	1.932e-05	1.072e-05	3.51e-05	9.85e-06	8.01e-06	1.156e-05	9.32e-06	3.51e-05	0	0	0	0	0	1.808e-05	0	0	6.573e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29690653	0.47254	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.909409	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.48230	B	.	.	2.606792	0.33848	19.46	0.92665126009978027	0.22145	0.72915	0.35675	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999996798729429	0.74766	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.842344	0.50902	4.4	4.4	0.52402	1.910000	0.39557	1.324000	0.25623	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.969	0.86166	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	235.98	5	chr7	290725	.	C	G	235.98	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.189;DP=159;ExcessHet=2.5225;FS=183.453;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=2.07;ReadPosRankSum=1.23;SOR=7.742	GT:AD:DP:GQ:PL	0/0:25,0:25:7:0,7,443	3	0	4	0
chr7	1236430	1236430	-	CGC	exonic	UNCX	.	nonframeshift insertion	UNCX:NM_001080461:exon3:c.1049_1050insCGC:p.A357_G358insA	.	358	1161	2	0	1	3	0.000860585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1316820361	0.0001	0.0001	0.0001	9.886e-05	0.0003	0.0001	9.703e-05	0.0002	0.0001	0.0003	0	5.422e-05	4.238e-05	0	0.0003	0.0001	0.0001	0	0.0001	0.0001	0.0001	0.0002	0.0004	9.702e-05	8.088e-05	0.0002	0.0002	0.0004	0	0	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	711.59	44	chr7	1236430	.	A	ACGC	711.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.119;DP=232;ExcessHet=0;FS=2.652;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.17;ReadPosRankSum=0.865;SOR=0.52	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1054	6	0	1	0
chr7	1434651	1434651	T	G	exonic	MICALL2	.	nonsynonymous SNV	MICALL2:NM_182924:exon17:c.A2660C:p.K887T	.	427	1051	44	0	0	44	0.0205033	.	.	.	710839	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.072	.	0.0038	0.00559105	0.0075	0.0004	0.0084	0	0	0.0071	0.0165	0.0227	0.0064747	1001	154602	rs138745697	0.0044	0.0045	0.0039	0.0049	0.0215	0.0043	0.0042	0.0183	0.0172	0.0009	0.0044	0.0545	2.55e-05	0.0002	0.0215	0.0026	0.0072	0.0163	0.0038	0.0038	0.0037	0.0039	0.0168	0.0035	0.0034	0.0138	0.0127	0.0005	0.0022	0.0026	0.0527	0	9.411e-05	0.0034	0.0034	0.0057	0.0168	0.004	0.65419	D	0.032	0.53426	D	0.969	0.56768	D	0.483	0.47159	P	0.350276	0.13826	N	0.544804	0.767714	0.34114	D	1.795	0.47270	L	-0.99	0.75911	T	-3.09	0.63438	D	0.329	0.36989	-0.6582	0.62355	T	0.182	0.52934	T	10	0.0042794943	0.00086	T	.	.	.	0.072	0.21020	.	.	0.813371712031	0.81161	0.498556905756521	0.49776	0.0563641266725	0.06225	0.314815610647	0.12636	T	0.031948	0.22272	T	-0.361974	0.04019	T	-0.279102	0.46896	T	0.0432402127885874	0.04282	T	0.793221	0.43505	T	0.1289492	0.30132	0.13869622	0.33115	0.11091681	0.26213	0.13869622	0.33115	-11.399	0.81801	D	.	.	0.216	0.44514	B	.	.	2.476055	0.31918	18.89	0.99679674905047677	0.79174	0.72201	0.35348	D	AEFBCI	0.245405	0.36634	N	-0.148444094394642	0.35299	2.025895	-0.212759033387074	0.31076	1.755432	0.106967155977715	0.16543	0.718356	0.82227	0	0.588015	0.36545	0	0.570548	0.19454	0	0.553173	0.17726	1	.	.	2.97	0.525	0.16266	-0.513000	0.06389	0.069000	0.14235	0.663000	0.56723	0.005000	0.17040	0.973000	0.29867	0.992000	0.67800	0.0:0.1971:0.0:0.8029	6.177	0.19662	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013092	0.010101	0.010870	0.020468	0.000000	0.025862	0.012195	0.007576	0.07143	1440.44	35	chr7	1434651	.	T	G	1440.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.714;DP=359;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9;ReadPosRankSum=-1.053;SOR=0.686	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr7	1440649	1440649	C	T	exonic	MICALL2	.	nonsynonymous SNV	MICALL2:NM_182924:exon8:c.G1747A:p.G583R	.	416	992	110	4	0	118	0.056137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	.	0.0058	0.00958466	0.0111	0.0014	0.0042	0.0002	0.0012	0.0092	0.0235	0.0387	0.0103815	1605	154602	rs118132501	0.0097	0.0097	0.0085	0.0108	0.0387	0.0095	0.0095	0.0376	0.0372	0.0019	0.0045	0.0214	5.038e-05	0.0018	0.0317	0.0081	0.0106	0.0387	0.0069	0.0070	0.0062	0.0077	0.0391	0.0066	0.0065	0.0345	0.0327	0.0011	0.0647	0.0083	0.0231	0	0.0016	0.0034	0.0077	0.0085	0.0391	0.01	0.56456	D	0.289	0.21078	T	0.998	0.73220	D	0.629	0.51727	P	0.785298	0.09439	N	0.854456	1	0.08975	N	0.55	0.14455	N	-0.5	0.70480	T	-2.9	0.60827	D	0.274	0.31027	-0.8680	0.50679	T	0.228	0.59372	T	10	0.003394574	0.00059	T	.	.	.	0.085	0.24743	0.254	0.19378	.	.	0.17260096805414704	0.17180	0.0127105137452	0.01221	0.354136884212	0.18529	T	0.005327	0.04780	T	-0.389267	0.02720	T	-0.304068	0.44293	T	0.0421110538412396	0.04076	T	0.717028	0.32946	T	0.07449362	0.16722	0.08943037	0.20911	0.07449362	0.16722	0.08943037	0.20911	-4.714	0.33573	T	.	.	0.185	0.40048	B	.	.	1.897278	0.24095	16.27	0.71380055128778219	0.09609	0.04398	0.09982	N	AEFGBI	0.094525	0.19111	N	-0.45859534911735	0.23449	1.259348	-0.634506495118654	0.18609	0.9948502	0.314020614395515	0.19317	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.08	2.22	0.27116	0.800000	0.26703	1.295000	0.25437	0.597000	0.34315	0.000000	0.06391	0.007000	0.19602	0.040000	0.14268	0.0:0.6189:0.1779:0.2032	4.792	0.12621	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.031219	0.000000	0.013587	0.049708	0.050000	0.025862	0.051829	0.045455	0.1429	1138.02	36	chr7	1440649	.	C	T	1138.02	.	AC=2;AF=0.143;AN=14;DP=206;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=31.61;SOR=1.061	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1186	6	1	0	0
chr7	1444713	1444713	G	A	exonic	MICALL2	.	nonsynonymous SNV	MICALL2:NM_182924:exon6:c.C1357T:p.R453W	.	424	1096	2	0	0	2	0.000911577	.	.	.	2368348	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.0914009243479	.	.	6.239e-05	0	0	0.0005	0	3.249e-05	0	6.182e-05	4.53e-05	7	154602	rs756546164	3.63e-05	3.694e-05	3.816e-05	3.442e-05	0.0005	2.832e-05	2.568e-05	0.0003	0.0003	8.962e-05	2.237e-05	0	0.0005	0	0	2.069e-05	4.971e-05	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.027	0.55341	D	0.079	0.24468	B	0.007	0.12992	B	0.028704	0.01690	N	3.664910	1	0.08975	N	0.55	0.14455	N	-0.47	0.70133	T	-1.88	0.43906	N	0.246	0.27792	-0.9046	0.47493	T	0.211	0.57134	T	10	0.053836346	0.05637	T	0.091401	0.75699	D	0.071	0.20720	.	.	0.550801545593	0.54736	0.3504401484264128	0.34958	0.0441765444341	0.04759	0.555522322655	0.46636	T	0.006587	0.06018	T	-0.303745	0.08310	T	-0.373761	0.36451	T	0.0837040897329393	0.10454	T	0.674133	0.28269	T	0.07777373	0.17673	0.049870357	0.07710	0.07777373	0.17672	0.049870357	0.07710	-7.907	0.60435	D	.	.	0.172	0.37709	B	.	.	2.532005	0.32736	19.13	0.9978303542692506	0.86955	0.05613	0.11520	N	AEFDGBI	0.168570	0.29533	N	-0.988793742274242	0.08843	0.4161824	-0.992660940178295	0.09948	0.4980649	0.573419258816321	0.21511	0.695654	0.57023	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.45	2.56	0.29842	3.131000	0.50210	2.797000	0.34830	-0.155000	0.11859	0.170000	0.23934	0.163000	0.23278	0.001000	0.02609	0.1039:0.1813:0.7147:0.0	6.684	0.22323	937	0.14592	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	337.53	37	chr7	1444713	.	G	A	337.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.91;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=0.157;SOR=0.703	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,1040	6	0	1	0
chr7	1540299	1540299	C	A	exonic	MAFK	.	nonsynonymous SNV	MAFK:NM_002360:exon3:c.C395A:p.A132D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.584	0.40344990056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.096	0.39340	T	0.914	0.50529	P	0.642	0.52168	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.65	0.77586	M	-1.84	0.84195	D	-0.93	0.24898	N	0.646	0.65758	0.277	0.87191	D	0.635	0.87219	D	10	0.75450873	0.75881	D	0.40345	0.93447	D	0.584	0.83305	0.317	0.29419	0.757612209115	0.75540	0.9242790718862596	0.92404	2.15008403777	0.95306	0.858042120934	0.90821	D	0.073788	0.34783	T	0.356224	0.86960	D	0.273915	0.86789	D	0.898849546909332	0.55103	D	0.935906	0.76011	D	0.38324872	0.59551	0.44439885	0.67623	0.38324872	0.59551	0.44439885	0.67623	-6.165	0.47639	T	.	.	0.587	0.68334	P	.;.	.;.	4.834938	0.78885	27.0	0.99571423135573134	0.72440	0.98289	0.81299	D	AEFGBCI	0.727749	0.67599	D	0.55387624343097	0.70319	5.484041	0.569247043462187	0.72746	5.858789	1.0	0.98316	0.631515	0.41029	0	0.697927	0.68747	0	0.723109	0.80598	0	0.636168	0.56350	0	.	.	5.1	5.1	0.68917	5.918000	0.69728	5.929000	0.51288	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:1.0:0.0:0.0	18.549	0.91011	774	0.48577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr7	1540299	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1218	6	1	0	0
chr7	2433290	2433290	C	A	exonic	CHST12	.	nonsynonymous SNV	CHST12:NM_001243794:exon2:c.C651A:p.N217K,CHST12:NM_001243795:exon2:c.C651A:p.N217K,CHST12:NM_018641:exon2:c.C651A:p.N217K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.0351799423233	.	.	8.428e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs773781470	6.85e-07	6.84e-07	0	1.377e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.36310	T	0.62	0.37173	T	0.854	0.47077	P	0.381	0.43873	B	0.000036	0.55875	D	0.157019	0.999994	0.58761	D	1.03	0.25572	L	-0.68	0.72568	T	-2.24	0.50175	N	0.629	0.64308	-0.6866	0.61066	T	0.256	0.62643	T	10	0.43824112	0.57933	T	0.03518	0.56172	D	0.267	0.58126	0.656	0.79379	0.893493033289	0.89244	0.871398533654742	0.87105	0.715199722194	0.61928	0.520734190941	0.41730	T	0.148593	0.48722	T	-0.0720679	0.40996	T	-0.341297	0.40198	T	0.542676845233073	0.34204	D	0.851715	0.53598	D	0.21287948	0.43652	0.2478232	0.50320	0.21287948	0.43652	0.2478232	0.50319	-7.191	0.55416	T	.	.	0.516	0.74947	A	.;.;.	.;.;.	3.335993	0.45945	22.2	0.9968668754711284	0.79641	0.98526	0.83723	D	AEFDGBI	0.658434	0.62971	D	0.28848926524587	0.55563	3.720498	0.345188998593054	0.58219	3.991113	0.819052493341331	0.24491	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.1	4.09	0.47038	4.847000	0.62565	4.805000	0.44998	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.8819:0.0:0.1181	12.128	0.53230	873	0.30802	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1579.83	33	chr7	2433290	.	C	A	1579.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.724;DP=304;ExcessHet=0;FS=2.33;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=0.526;SOR=0.934	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1341	6	0	1	0
chr7	2542173	2542173	A	C	exonic	BRAT1	.	nonsynonymous SNV	BRAT1:NM_001350627:exon6:c.T437G:p.L146R,BRAT1:NM_001350626:exon7:c.T962G:p.L321R,BRAT1:NM_152743:exon7:c.T962G:p.L321R	Rigidity and multifocal seizure syndrome, lethal neonatal, Autosomal recessive	0	1491	30	1	0	32	0.0106171	.	.	YES	363971	Neonatal-onset_encephalopathy_with_rigidity_and_seizures|Neurodevelopmental_disorder_with_cerebellar_atrophy_and_with_or_without_seizures|not_provided|BRAT1-related_disorder	MONDO:MONDO:0013784,MedGen:C3281029,OMIM:614498,Orphanet:435845|MONDO:MONDO:0020841,MedGen:C4748032,OMIM:618056|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.799	.	0.0048	0.00339457	0.0103	0.0007	0.0094	0	0.0166	0.0155	0.0045	0.0080	0.0036675	567	154602	rs150942467	0.0086	0.0085	0.0086	0.0086	0.0096	0.0084	0.0084	0.0095	0.0094	0.0010	0.0039	0.0037	0	0.0086	0.0077	0.0096	0.0070	0.0062	0.0066	0.0066	0.0069	0.0063	0.0093	0.0062	0.0061	0.0087	0.0085	0.0016	0.0318	0.0077	0.0032	0	0.0106	0.0103	0.0093	0.0057	0.0037	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.495	0.72670	M	-0.87	0.74583	T	-4.3	0.76496	D	0.924	0.92784	0.084	0.83888	D	0.472	0.79695	T	10	0.020496815	0.00473	T	.	.	.	0.799	0.93425	.	.	0.779192970331	0.77716	0.8486993657309405	0.84830	0.354304652269	0.37210	0.496233224869	0.38303	T	0.137523	0.47051	T	-0.00844316	0.50484	T	0.221493	0.84252	D	0.0193440535127068	0.00639	T	0.782722	0.41876	T	0.79226124	0.83415	0.7237451	0.83684	0.79226124	0.83416	0.7237451	0.83685	-10.099	0.74502	D	0.8584731998218259	0.92261	0.351	0.56664	A	.	.	4.518106	0.70818	25.6	0.99772560332094673	0.86003	0.95447	0.64757	D	AEFGBCI	0.563647	0.57076	D	0.654033638201833	0.76632	6.522163	0.608210816914051	0.75533	6.327763	0.997020771789545	0.35208	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	2.391000	0.44078	11.059000	0.85411	0.751000	0.87719	0.963000	0.33788	1.000000	0.68203	0.788000	0.37229	1.0:0.0:0.0:0.0	14.012	0.64019	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.008089	0.000000	0.013699	0.005988	0.000000	0.000000	0.018293	0.003788	0.07143	1178.45	37	chr7	2542173	.	A	C	1178.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.613;DP=288;ExcessHet=0;FS=6.284;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.839;SOR=0.451	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1205	6	0	1	0
chr7	2590010	2590010	G	T	exonic	IQCE	.	nonsynonymous SNV	IQCE:NM_001287501:exon12:c.G953T:p.R318L,IQCE:NM_001287502:exon12:c.G953T:p.R318L,IQCE:NM_001287500:exon13:c.G1100T:p.R367L,IQCE:NM_001287499:exon14:c.G1148T:p.R383L,IQCE:NM_152558:exon14:c.G1148T:p.R383L	.	423	1095	2	0	2	4	0.000912409	.	.	.	3210133	not_provided|IQCE-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.074	0.00494352730669	0.0017	0.00159744	0.0035	0.0002	0.0009	0	0.0092	0.0051	0.0034	0.0004	0.0033117	512	154602	rs180961841	0.0033	0.0033	0.0035	0.0032	0.0035	0.0032	0.0032	0.0034	0.0034	0.0004	0.0010	0.0082	0	0.0079	0.0021	0.0035	0.0038	0.0004	0.0027	0.0027	0.0026	0.0029	0.0034	0.0025	0.0024	0.0030	0.0029	0.0004	0.0110	0.0010	0.0101	0	0.0092	0	0.0034	0.0033	0.0002	0.026	0.49117	D	0.103	0.52727	T	0.964	0.55854	D	0.467	0.46683	P	0.119803	0.02715	N	1.816500	1	0.08975	N	1.445	0.36358	L	2.7	0.12371	T	-2.0	0.46146	N	0.139	0.15046	-0.9968	0.30810	T	0.026	0.10954	T	10	0.0053347647	0.00117	T	0.004944	0.12442	T	0.074	0.21613	.	.	0.263140351381	0.25927	0.18624519883211713	0.18542	0.294894175006	0.31902	0.293088048697	0.09374	T	0.016208	0.26014	T	-0.548238	0.00299	T	-0.560563	0.16325	T	0.0114852355907931	0.00173	T	0.730127	0.39899	T	0.06988623	0.15349	0.06927493	0.14574	0.06981632	0.15328	0.08607767	0.19918	-2.073	0.04533	T	.	.	0.096	0.19478	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.106742	0.14913	11.44	0.89514019597272321	0.18861	0.05893	0.11843	N	AEFDGBI	0.065911	0.12882	N	-0.900490830751013	0.10831	0.5195431	-1.12198730782317	0.07281	0.3535746	0.347912696949542	0.19652	0.651	0.46895	0	0.694456	0.67091	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	5.15	-4.19	0.03573	-0.792000	0.04700	-0.647000	0.08048	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.3742:0.3829:0.2429:0.0	6.244	0.20020	895	0.25842	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000506	0.000000	0.000000	0.000000	0.000000	0.000000	0.003086	0.000000	0.07143	89.44	35	chr7	2590010	.	G	T	89.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.887;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=0.439;SOR=0.799	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1259	6	0	1	0
chr7	2605888	2605888	C	T	exonic	IQCE	.	nonsynonymous SNV	IQCE:NM_001287501:exon18:c.C1561T:p.P521S,IQCE:NM_001287502:exon18:c.C1561T:p.P521S,IQCE:NM_001287500:exon19:c.C1708T:p.P570S,IQCE:NM_001287499:exon20:c.C1756T:p.P586S,IQCE:NM_152558:exon20:c.C1756T:p.P586S	.	426	1075	20	1	0	22	0.0101289	.	.	.	859602	not_provided|IQCE-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.0102518954818	0.0038	0.00239617	0.0050	0.0013	0.0037	0	0.0005	0.0067	0.0043	0.0048	0.0040362	624	154602	rs112274087	0.0052	0.0052	0.0052	0.0051	0.0125	0.0051	0.0050	0.0101	0.0093	0.0010	0.0041	0.0059	2.575e-05	0.0006	0.0125	0.0057	0.0050	0.0047	0.0043	0.0043	0.0045	0.0041	0.0064	0.0040	0.0039	0.0059	0.0057	0.0010	0.0307	0.0064	0.0060	0	0.0004	0.0136	0.0064	0.0057	0.0027	0.104	0.33585	T	0.317	0.92824	T	0.911	0.90584	P	0.311	0.88582	B	0.106405	0.19615	N	0.498237	1	0.08975	N	2.125	0.59049	M	2.63	0.26445	T	-2.81	0.74821	D	0.144	0.16586	-1.0704	0.09326	T	0.058	0.24204	T	10	0.0047002435	0.00099	T	0.010252	0.26566	T	0.059	0.16972	.	.	0.287603790349	0.28378	0.1544516810618503	0.15366	0.33899569017	0.35858	0.298560917377	0.10187	T	0.020901	0.45195	T	-0.559731	0.00255	T	-0.573901	0.15093	T	0.0422745312397505	0.04105	T	0.824018	0.48536	T	0.036929853	0.04638	0.05289069	0.08804	0.03686157	0.04615	0.060979206	0.11699	-3.587	0.17727	T	.	.	0.077	0.19398	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.378673	0.07505	4.151	0.93961648328228031	0.24030	0.03044	0.07937	N	AEFDGBI	0.055871	0.10283	N	-0.655524026888088	0.17300	0.8890007	-0.80324649664845	0.14417	0.7531757	0.999950718665357	0.48110	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.683535	0.66460	0	.	.	4.79	1.42	0.21524	0.247000	0.17953	-0.081000	0.12176	-0.995000	0.01833	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.59:0.0:0.41	5.421	0.15699	929	0.16858	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.014646	0.040816	0.013587	0.014620	0.000000	0.000000	0.018405	0.011364	0.07143	1138.53	34	chr7	2605888	.	C	T	1138.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.554;DP=263;ExcessHet=0;FS=0.929;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=-0.804;SOR=0.507	GT:AD:DP:GQ:PL	0/1:26,48:74:99:1149,0,531	6	0	1	0
chr7	2814361	2814361	C	T	exonic	GNA12	.	nonsynonymous SNV	GNA12:NM_001282441:exon2:c.G83A:p.R28Q	.	431	1056	34	1	0	36	0.0167598	.	.	.	2828235	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.169	.	0.0059	0.00239617	0.0064	0.0016	0.0032	0	0.0015	0.0097	0.0162	0.0030	0.0064423	996	154602	rs151253462	0.0079	0.0080	0.0080	0.0078	0.0254	0.0078	0.0078	0.0221	0.0208	0.0019	0.0042	0.0103	7.562e-05	0.0009	0.0254	0.0091	0.0083	0.0031	0.0059	0.0059	0.0061	0.0058	0.0096	0.0056	0.0055	0.0090	0.0087	0.0016	0	0.0062	0.0092	0.0002	0.0010	0.0442	0.0096	0.0090	0.0037	0.008	0.58626	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.19781	N	.	.	.	-2.08	0.86010	D	1.22	0.01051	N	0.123	0.11483	-0.5180	0.67989	T	0.367	0.72712	T	8	0.004283428	0.00086	T	.	.	.	0.169	0.43123	.	.	0.472011534587	0.46827	.	.	.	.	.	.	.	.	.	.	-0.500656	0.00567	T	-0.47961	0.24487	T	0.00296320149154326	0.00031	T	0.350365	0.07800	T	.	.	.	.	.	.	.	.	-4.401	0.29571	T	.	.	0.104	0.18746	B	.	.	0.980151	0.13573	10.10	0.99304735825804491	0.58759	0.01677	0.05358	N	AEFDBIJ	0.025508	0.01757	N	-0.793627732173815	0.13475	0.6640948	-0.892724837559142	0.12265	0.6299404	0.999991911856854	0.74766	0.475973	0.10046	0	0.601575	0.49859	0	0.527494	0.11647	0	0.714379	0.83352	0	.	.	2.12	2.12	0.26372	-0.109000	0.10810	-0.377000	0.09567	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:1.0:0.0:0.0	7.776	0.28201	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	775.63	27	chr7	2814361	.	C	T	775.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.9;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=1.94;SOR=0.671	GT:AD:DP:GQ:PL	0/1:46,31:77:99:786,0,977	6	0	1	0
chr7	4784272	4784272	C	T	exonic	AP5Z1	.	nonsynonymous SNV	AP5Z1:NM_001364858:exon5:c.C223T:p.R75C,AP5Z1:NM_014855:exon6:c.C691T:p.R231C	Spastic paraplegia 48, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	523106	Hereditary_spastic_paraplegia_48|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0013342,MedGen:C3150901,OMIM:613647,Orphanet:306511|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.052	0.0521709844036	.	.	0.0002	0	0.0009	0	0	6.989e-05	0.0029	0.0002	6.47e-05	10	154602	rs774832344	0.0002	0.0002	0.0002	0.0002	0.0021	0.0001	0.0001	0.0012	0.0009	3.008e-05	0.0001	0	7.681e-05	0	0.0021	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	9.704e-05	0.0002	0.0001	4.824e-05	0	0.0004	0	0	0	0.0032	0.0002	0.0010	0.0002	0.059	0.37536	T	0.173	0.30143	T	0.993	0.65571	D	0.646	0.52296	P	0.306943	0.14500	N	0.693976	0.855438	0.35294	D	0.69	0.16971	N	0.93	0.44065	T	-1.4	0.34596	N	0.183	0.19861	-0.8459	0.52249	T	0.124	0.42778	T	10	0.09637657	0.17281	T	0.052171	0.64964	D	0.052	0.14661	.	.	0.209622950755	0.20551	0.3238630021136059	0.32299	.	.	0.23278850317	0.02181	T	0.021932	0.16994	T	-0.397577	0.02401	T	-0.502892	0.22047	T	0.0795615378085966	0.09930	T	0.846115	0.52582	T	0.09741593	0.22963	0.07920553	0.17809	0.09741593	0.22963	0.07920553	0.17809	-3.578	0.17539	T	0.2168345886664403	0.29174	0.08	0.07793	B	.;.	.;.	3.566337	0.50211	22.9	0.99816150755899768	0.89973	0.85497	0.44635	D	AEFDGBCI	0.273706	0.38905	N	0.131211620003607	0.47924	3.011334	0.110381075418592	0.45079	2.777508	0.919053212789616	0.26590	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.31	4.31	0.50718	0.803000	0.26744	1.772000	0.28642	0.599000	0.40250	0.988000	0.36536	0.999000	0.35428	0.801000	0.37776	0.0:1.0:0.0:0.0	16.113	0.81082	912	0.21483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002026	0.000000	0.002725	0.000000	0.000000	0.008621	0.003106	0.000000	0.07143	1112.83	35	chr7	4784272	.	C	T	1112.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.19;DP=293;ExcessHet=0;FS=7.374;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=-1.674;SOR=1.236	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1316	6	0	1	0
chr7	5351938	5351938	G	A	exonic	TNRC18	.	nonsynonymous SNV	TNRC18:NM_001080495:exon17:c.C5351T:p.A1784V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0131193142886	.	.	1.755e-05	0	0	0	0	1.597e-05	0	6.146e-05	1.29e-05	2	154602	rs550682983	8.211e-06	8.209e-06	5.447e-06	1.1e-05	0.0002	4.38e-06	3.46e-06	2.986e-05	1.805e-05	2.987e-05	8.95e-05	0	0	0	0.0002	4.497e-06	0	1.159e-05	6.571e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.029	0.45756	D	0.139	0.33666	T	0.022	0.18677	B	0.006	0.12133	B	0.053512	0.22802	N	0.222949	0.998863	0.21844	N	1.24	0.30952	L	2.5	0.14408	T	-2.51	0.54546	D	0.291	0.32921	-1.0237	0.22508	T	0.038	0.16246	T	10	0.08332977	0.13849	T	0.013119	0.32271	T	0.072	0.21020	0.12	0.02719	0.043077524339	0.03247	0.09246395837974745	0.09178	0.183786363742	0.20674	0.385302186012	0.23005	T	0.022995	0.17632	T	-0.351345	0.04642	T	-0.641829	0.09536	T	0.327885299921036	0.26140	T	0.708429	0.31914	T	0.076131	0.17196	0.10984021	0.26477	0.076131	0.17196	0.10984021	0.26476	-4.787	0.34440	T	.	.	0.087	0.11317	B	.;.	.;.	2.028892	0.25788	16.89	0.95086023168221945	0.26142	0.25633	0.22757	N	AEFDBI	0.054092	0.09803	N	-0.537250394151806	0.20885	1.10433	-0.475317243879017	0.22836	1.242336	0.999968201063483	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.619478	0.44681	0	0.635551	0.53088	0	.	.	5.03	2.06	0.25932	0.564000	0.23265	1.001000	0.23261	0.676000	0.76740	0.006000	0.17386	0.334000	0.24388	0.994000	0.71098	0.0:0.5463:0.4537:0.0	16.218	0.82059	911	0.21964	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1193.27	35	chr7	5351938	.	G	A	1193.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.894;DP=242;ExcessHet=0;FS=7.578;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.81;ReadPosRankSum=-0.865;SOR=0.187	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1111	5	0	1	1
chr7	5370840	5370840	C	T	exonic	TNRC18	.	nonsynonymous SNV	TNRC18:NM_001080495:exon11:c.G3754A:p.E1252K	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0197196792285	.	.	7.497e-05	0	0	0	0.0002	0.0001	0	0	5.17e-05	8	154602	rs756617777	2.952e-05	3.078e-05	2.323e-05	3.587e-05	0.0002	2.224e-05	1.977e-05	2.456e-05	2.144e-05	0	0	0	0	4.074e-05	0.0002	3.329e-05	4.976e-05	0	1.971e-05	1.97e-05	0	4.035e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.003	0.68238	D	0.081	0.41742	T	0.672	0.41203	P	0.041	0.23986	B	0.095768	0.20108	N	0.359439	1	0.08975	N	1.445	0.36358	L	2.65	0.12676	T	-1.6	0.38540	N	0.255	0.28849	-1.0242	0.22344	T	0.029	0.12278	T	10	0.077132195	0.12136	T	0.01972	0.42154	T	0.061	0.17616	0.315	0.29096	0.043077524339	0.03247	0.08014907310058944	0.07949	0.161500774242	0.18230	0.479103982449	0.35933	T	0.023336	0.17832	T	-0.383836	0.02946	T	-0.589458	0.13713	T	0.0806443029511087	0.10069	T	0.844815	0.52285	T	0.048971325	0.08623	0.06765234	0.14024	0.048971325	0.08622	0.06765234	0.14024	-6.292	0.48658	T	.	.	0.097	0.15609	B	.;.	.;.	2.733117	0.35776	19.99	0.64050738571097987	0.07388	0.07697	0.13700	N	AEFDGBI	0.085501	0.17333	N	-0.905233642724034	0.10718	0.513591	-1.0119035771441	0.09523	0.474257	0.0992282996005446	0.16325	0.706548	0.73137	0	0.702456	0.74545	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.4	2.56	0.29842	1.275000	0.32748	2.288000	0.31941	-0.219000	0.08017	0.265000	0.24998	0.983000	0.30585	0.006000	0.07323	0.0:0.5812:0.3256:0.0932	7.259	0.25366	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	521.53	37	chr7	5370840	.	C	T	521.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.22;DP=243;ExcessHet=0;FS=0.993;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.02;ReadPosRankSum=2.03;SOR=0.963	GT:AD:DP:GQ:PL	0/1:42,23:65:99:532,0,1009	6	0	1	0
chr7	5910039	5910039	G	A	exonic	CCZ1	.	nonsynonymous SNV	CCZ1:NM_015622:exon8:c.G703A:p.G235R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.699	0.0171281737155	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1331285145	6.897e-06	6.842e-06	8.241e-06	5.541e-06	5.439e-06	3.49e-06	2.54e-06	1.96e-06	1.29e-06	0	0	0	0	0	0	5.439e-06	6.67e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.007	0.69154	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	-6.61	0.92086	D	0.98	0.99015	-0.2910	0.75238	T	0.409	0.75824	T	9	0.9170548	0.91065	D	0.017128	0.38702	T	0.699	0.89145	0.767	0.89452	0.27064940482	0.26676	0.8920676032200314	0.89176	.	.	0.882213175297	0.94257	D	0.289475	0.66226	T	0.455493	0.92723	D	0.431994	0.93103	D	0.983792185783386	0.75330	D	.	.	.	0.75291806	0.81038	0.7848756	0.87328	0.75291806	0.81040	0.7848756	0.87329	-13.884	0.92674	D	.	.	0.995	0.95431	P	.	.	5.281102	0.88677	29.7	0.9993995418024687	0.99767	0.99081	0.90945	D	AEFGBI	0.910654	0.86885	D	0.911099315352706	0.92294	11.34084	0.92973432110744	0.96742	15.08621	0.999999998219223	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	6.05	6.05	0.98156	9.989000	0.99212	11.759000	0.95586	0.673000	0.70640	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.589	0.95496	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	450.63	37	chr7	5910039	.	G	A	450.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.781;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.31;MQRankSum=-1.129;QD=9.59;ReadPosRankSum=1.17;SOR=0.735	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,101,1418	6	0	1	0
chr7	5967064	5967064	G	A	exonic	RSPH10B;RSPH10B2	.	nonsynonymous SNV	RSPH10B2:NM_001099697:exon3:c.C53T:p.S18F,RSPH10B:NM_173565:exon3:c.C53T:p.S18F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0598829145343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.004	0.74150	D	0.988	0.62325	D	0.694	0.53938	P	0.294475	0.03915	N	1.583530	0.960321	0.26151	N	1.995	0.54099	M	0.42	0.56937	T	-2.46	0.53736	N	0.237	0.26717	-0.8529	0.51767	T	0.293	0.66431	T	10	0.2821738	0.45796	T	0.059883	0.67815	D	0.250	0.55888	0.325	0.30711	0.537034694273	0.53353	0.3054105595686339	0.30454	.	.	0.510692000389	0.40320	T	0.021555	0.16767	T	-0.0749431	0.40534	T	-0.345427	0.39727	T	0.77496212720871	0.44740	D	0.740526	0.35940	T	0.10139629	0.23952	0.15439272	0.36238	0.10139629	0.23951	0.15439272	0.36237	-6.557	0.50724	T	.	.	0.096	0.18331	B	.;.;.	.;.;.	2.932783	0.38970	20.9	0.99664102506800933	0.78138	0.36593	0.25568	N	AEFGI	0.159015	0.28475	N	-0.089195827682142	0.37865	2.209233	-0.216554733827431	0.30941	1.746601	0.0213613938495533	0.13342	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.48	4.6	0.56512	2.271000	0.43023	7.129000	0.57618	-0.852000	0.02700	0.076000	0.22236	1.000000	0.68203	0.008000	0.08271	0.0783:0.0:0.9217:0.0	13.039	0.58292	878	0.29785	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	34.28	25	chr7	5967064	.	G	A	34.28	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.258;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.125;MQ=26.95;MQRankSum=0;QD=0.61;ReadPosRankSum=2.08;SOR=0.076	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:27,6:33:35:.:.:0,35,584:.	3	0	1	3
chr7	5992017	5992017	C	T	exonic	PMS2	.	nonsynonymous SNV	PMS2:NM_001322008:exon7:c.G626A:p.R209Q,PMS2:NM_001322004:exon8:c.G539A:p.R180Q,PMS2:NM_001322007:exon8:c.G626A:p.R209Q,PMS2:NM_001322010:exon8:c.G539A:p.R180Q,PMS2:NM_001322013:exon8:c.G371A:p.R124Q,PMS2:NM_000535:exon9:c.G944A:p.R315Q,PMS2:NM_001322003:exon9:c.G539A:p.R180Q,PMS2:NM_001322005:exon9:c.G539A:p.R180Q,PMS2:NM_001322006:exon9:c.G944A:p.R315Q,PMS2:NM_001322009:exon9:c.G539A:p.R180Q,PMS2:NM_001322011:exon9:c.G11A:p.R4Q,PMS2:NM_001322012:exon9:c.G11A:p.R4Q,PMS2:NM_001322014:exon9:c.G944A:p.R315Q,PMS2:NM_001322015:exon9:c.G635A:p.R212Q	Colorectal cancer, hereditary nonpolyposis, type 4;Mismatch repair cancer syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	182774	Lynch_syndrome_4|not_provided|PMS2-related_disorder|not_specified|Hereditary_cancer-predisposing_syndrome|Mismatch_repair_cancer_syndrome_4|Hereditary_nonpolyposis_colorectal_neoplasms|Lynch_syndrome|Breast_and/or_ovarian_cancer	MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337,Orphanet:144|MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0030843,MedGen:C5436817,OMIM:619101|MeSH:D003123,MedGen:C0009405|MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144|MedGen:CN221562	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.591	0.0569733626982	0.0002	0.000199681	2.487e-05	9.686e-05	0	0	0	3.019e-05	0	0	2.59e-05	4	154602	rs116314131	2.068e-05	2.326e-05	1.923e-05	2.215e-05	0.0002	1.467e-05	1.273e-05	9.809e-05	6.988e-05	0.0002	0	0	5.047e-05	0	0	1.815e-05	1.666e-05	0	5.259e-05	5.251e-05	6.431e-05	4.034e-05	0.0001	2.558e-05	1.831e-05	6.275e-05	4.295e-05	0.0001	0	0	0	0	0	0	2.941e-05	0	0	0.149	0.27194	T	0.231	0.30534	T	0.999	0.90584	D	0.619	0.83170	P	0.000014	0.62929	D	0.064353	0.999972	0.81001	D	2.165	0.60562	M	-1.81	0.83970	D	-2.68	0.57275	D	0.549	0.57518	0.109	0.84332	D	0.664	0.88329	D	10	0.5413475	0.63737	D	0.056973	0.66799	D	0.591	0.83691	.	.	0.910573392133	0.90967	0.5002295631445034	0.49943	0.227101430586	0.25262	0.439710557461	0.30537	T	0.278174	0.65081	T	0.0459511	0.57821	T	0.00975702	0.70967	D	0.809331357479095	0.46999	D	0.972403	0.92442	D	0.5976499	0.72565	0.45924804	0.68585	0.5976499	0.72566	0.45924804	0.68586	-10.479	0.76726	D	0.5534722112245647	0.62182	0.121	0.45678	B	.;.;.;.;.	.;.;.;.;.	5.353758	0.89797	31	0.99940270582314439	0.99767	0.96353	0.68724	D	AEFGBI	0.557868	0.56732	D	0.318530686757951	0.57100	3.876171	0.335907781046865	0.57662	3.932901	0.999544436518186	0.40300	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.4	5.4	0.77957	5.738000	0.68254	7.542000	0.60105	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.892000	0.42986	0.0:0.9156:0.0:0.0844	12.933	0.57693	878	0.29785	DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein family, N-terminal;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1125.44	35	chr7	5992017	.	C	T	1125.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.06;DP=301;ExcessHet=0;FS=0.719;MLEAC=1;MLEAF=0.071;MQ=58.93;MQRankSum=1.92;QD=10.23;ReadPosRankSum=0.096;SOR=0.816	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1304	6	0	1	0
chr7	6622036	6622036	G	C	exonic	ZNF853	.	nonsynonymous SNV	ZNF853:NM_001353546:exon3:c.G1000C:p.E334Q,ZNF853:NM_017560:exon3:c.G1045C:p.E349Q	.	391	1128	3	0	0	3	0.00132802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00279553	0.0066	0	0.0028	0	0	0.0016	0.0165	0.0136	0.000925	143	154602	rs531568646	0.0011	0.0010	0.0006	0.0015	0.0141	0.0010	0.0010	0.0134	0.0131	3.173e-05	5.607e-05	0.0008	5.598e-05	0	0.0023	0.0002	0.0015	0.0141	0.0005	0.0005	0.0003	0.0007	0.0104	0.0004	0.0004	0.0081	0.0073	0	0	0.0002	0.0006	0	0.0002	0	0.0003	0.0005	0.0104	0.0	0.91255	D	1.0	0.01155	T	0.054	0.22658	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.54	0.30133	T	-0.79	0.21860	N	0.088	0.06587	.	.	.	.	.	.	.	0.002908498	0.00047	T	.	.	.	.	.	.	.	0.444404870569	0.44059	0.29549003028057685	0.29462	0.00824714859196	0.00747	0.448020964861	0.31673	T	0.015135	0.12752	T	-0.5398	0.00336	T	-0.536486	0.18643	T	.	.	.	0.354665	0.08016	T	0.29915228	0.52828	0.17286074	0.39571	0.29915228	0.52828	0.17286074	0.39570	-4.268	0.27726	T	.	.	0.158	0.35013	B	.	.	2.501779	0.32295	19.00	0.83817051210120541	0.14936	0.08150	0.14114	N	AEFDGBHCI	0.046477	0.07723	N	.	.	.	.	.	.	0.999980893610062	0.51787	0.580535	0.33130	0	0.578056	0.33634	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	2.78	0.747	0.17520	1.335000	0.33444	.	.	0.672000	0.70159	0.027000	0.20232	1.000000	0.68203	0.998000	0.85391	0.0:0.4086:0.3833:0.2081	5.902	0.18215	773	0.48803	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007418	0.005682	0.000000	0.003425	0.000000	0.031250	0.004098	0.028736	0.07143	625.53	26	chr7	6622036	.	G	C	625.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.127;DP=189;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.155;SOR=0.804	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1061	6	0	1	0
chr7	11379656	11379656	T	C	exonic	THSD7A	.	nonsynonymous SNV	THSD7A:NM_015204:exon24:c.A4564G:p.S1522G	.	422	1086	13	1	0	15	0.00685871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	8.1e-05	0.00159744	0.0032	0	0.0014	0	0	0.0005	0.0028	0.0133	0.0011061	171	154602	rs368900300	0.0008	0.0008	0.0005	0.0011	0.0100	0.0007	0.0007	0.0094	0.0092	6.055e-05	7.174e-05	0.0002	2.587e-05	0	0.0035	0.0002	0.0007	0.0100	0.0003	0.0003	0.0003	0.0004	0.0066	0.0002	0.0002	0.0048	0.0042	2.406e-05	0	6.539e-05	0	0	0	0	0.0002	0.0005	0.0066	0.212	0.19500	T	0.194	0.28120	T	0.061	0.23190	B	0.044	0.24394	B	0.000081	0.52346	D	0.234460	0.829518	0.28778	N	1.1	0.28011	L	0.23	0.59717	T	-1.68	0.40082	N	0.265	0.30461	-0.9618	0.38839	T	0.140	0.45960	T	10	0.0066870153	0.00152	T	.	.	.	0.044	0.11924	.	.	0.123314135267	0.11883	0.2269603776766794	0.22611	0.0453434026075	0.04917	0.283158272505	0.07937	T	0.019495	0.20449	T	-0.46914	0.00860	T	-0.438702	0.28954	T	0.0396923171265889	0.03635	T	0.89951	0.65919	D	0.18581225	0.39961	0.1491158	0.35221	0.18581225	0.39960	0.1491158	0.35220	-7.62	0.58450	D	.	.	0.088	0.11701	B	.;.	.;.	2.622874	0.34091	19.53	0.9936343304653833	0.61113	0.92011	0.54748	D	AEFI	0.542019	0.55793	D	-0.265983642883552	0.30470	1.699328	-0.0907743466110345	0.35770	2.073454	0.351643098047086	0.19688	0.615465	0.37627	0	0.573888	0.26702	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.73	4.56	0.55644	2.285000	0.43149	4.245000	0.42727	0.665000	0.62972	0.993000	0.37899	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.1339:0.8661	13.094	0.58598	901	0.24189	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.008621	0.006098	0.000000	0.08333	720.27	34	chr7	11379656	.	T	C	720.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.32;DP=221;ExcessHet=0;FS=0.988;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-0.349;SOR=0.772	GT:AD:DP:GQ:PL	0/1:29,30:59:99:730,0,829	5	0	1	1
chr7	12380643	12380643	G	C	exonic	VWDE	.	nonsynonymous SNV	VWDE:NM_001135924:exon5:c.C632G:p.S211C,VWDE:NM_001346972:exon5:c.C632G:p.S211C,VWDE:NM_001346973:exon5:c.C167G:p.S56C	.	439	1041	40	2	0	44	0.0206961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	.	0.0002	0.00299521	0.0071	0.0004	0.0024	0	0.0012	0.0005	0	0.0191	0.0012484	193	154602	rs201430222	0.0014	0.0013	0.0008	0.0019	0.0163	0.0013	0.0013	0.0155	0.0152	6.33e-05	0.0004	0.0004	2.798e-05	0.0002	0.0102	0.0004	0.0017	0.0163	0.0009	0.0009	0.0007	0.0012	0.0147	0.0008	0.0008	0.0120	0.0110	4.812e-05	0	0.0007	0.0006	0	0.0003	0.0136	0.0007	0.0019	0.0147	0.019	0.50132	D	0.015	0.61642	D	0.761	0.43566	P	0.338	0.42306	B	.	.	.	.	0.965048	0.25955	N	1.495	0.37439	L	-1.67	0.82806	D	-2.2	0.49519	N	0.162	0.17002	-0.4008	0.72001	T	0.416	0.76279	T	9	0.008293569	0.00188	T	.	.	.	0.317	0.63904	.	.	0.343334270461	0.33943	0.20029899394606046	0.19946	.	.	0.376162022352	0.21712	T	0.039527	0.25219	T	-0.420008	0.01710	T	-0.361152	0.37918	T	0.024809887274748	0.01248	T	0.578142	0.20837	T	0.16607872	0.36921	0.15976596	0.37245	0.16607872	0.36920	0.15976596	0.37244	-11.404	0.81827	D	.	.	0.167	0.36712	B	.	.	3.624016	0.51305	23.1	0.98969845649481181	0.49501	0.95695	0.65763	D	AEFBI	0.631091	0.61219	D	0.196351805118652	0.51024	3.287046	0.249341905279831	0.52612	3.434912	0.999978700190465	0.50053	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.98	4.98	0.65679	2.332000	0.43561	5.528000	0.48839	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.775000	0.36711	0.0:0.0:0.843:0.157	13.417	0.60423	837	0.37933	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003589	0.000000	0.000000	0.013043	0.000000	0.000000	0.005618	0.012195	0.07143	520.46	36	chr7	12380643	.	G	C	520.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.495;DP=242;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.108;SOR=0.822	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	6	0	1	0
chr7	15365563	15365563	C	T	exonic	AGMO	.	nonsynonymous SNV	AGMO:NM_001004320:exon12:c.G1214A:p.R405Q	.	426	1087	7	2	0	11	0.00503432	.	.	YES	1327039	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.015139513284	0.0002	0.00119808	0.0010	0.0004	0.0006	0	0	0.0004	0.0011	0.0046	0.0008021	124	154602	rs181773805	0.0004	0.0004	0.0003	0.0005	0.0048	0.0004	0.0003	0.0044	0.0043	0.0004	0.0002	0	0	7.491e-05	0.0009	7.019e-05	0.0005	0.0048	0.0004	0.0004	0.0002	0.0005	0.0052	0.0003	0.0003	0.0036	0.0031	0.0007	0	6.561e-05	0	0	9.461e-05	0	0	0	0.0052	0.151	0.54683	T	0.584	0.92824	T	0.261	0.31520	B	0.014	0.16862	B	0.002363	0.36688	N	0.254889	1	0.08975	N	2.375	0.68372	M	1.55	0.29866	T	-0.44	0.47175	N	0.456	0.49328	-1.0507	0.14203	T	0.057	0.24018	T	10	0.0037632883	0.00070	T	0.01514	0.35698	T	0.059	0.16972	.	.	0.185906805712	0.18197	0.5229520041165477	0.52218	0.00131116575826	0.00112	0.24205134809	0.02977	T	0.013942	0.11965	T	-0.506979	0.00522	T	-0.500338	0.22313	T	0.00948262720958515	0.00122	T	0.848715	0.53056	T	0.055814307	0.10899	0.05426692	0.09301	0.055814307	0.10899	0.05426692	0.09301	-3.786	0.20595	T	.	.	0.093	0.14797	B	.;.	.;.	1.630169	0.20816	14.92	0.9863889435903912	0.44028	0.02356	0.06718	N	AEFI	0.153136	0.27795	N	-0.739343462059541	0.14924	0.7476628	-0.79495319520093	0.14619	0.764765	1.84712510751459E-5	0.02871	0.638212	0.43195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.78	2.01	0.25568	-0.098000	0.10993	0.065000	0.14184	0.599000	0.40250	0.033000	0.20612	0.001000	0.17328	0.961000	0.51904	0.0:0.5672:0.0:0.4328	8.294	0.31136	963	0.08280	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.003788	0.07143	1034.63	40	chr7	15365563	.	C	T	1034.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.66;DP=293;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=-0.77;SOR=0.707	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	6	0	1	0
chr7	15385509	15385509	T	C	exonic	AGMO	.	nonsynonymous SNV	AGMO:NM_001004320:exon10:c.A1011G:p.I337M	.	428	1093	1	0	0	1	0.000457247	.	.	.	1327040	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.041	.	0.0036	0.00419329	0.0011	0.0125	0.0002	0	0	0	0	6.056e-05	0.0010802	167	154602	rs139340804	0.0003	0.0003	0.0004	0.0003	0.0125	0.0003	0.0003	0.0115	0.0111	0.0125	0.0003	0	0	0	0	4.498e-06	0.0007	0.0002	0.0034	0.0034	0.0034	0.0033	0.0117	0.0031	0.0030	0.0108	0.0105	0.0117	0	0.0012	0	0	0	0	1.47e-05	0.0043	0.0002	0.071	0.35165	T	0.169	0.30534	T	0.015	0.17086	B	0.02	0.19048	B	0.773770	0.09526	N	0.893189	1	0.08975	N	2.6	0.76081	M	1.46	0.32238	T	-0.96	0.25551	N	0.146	0.14763	-0.9911	0.32321	T	0.017	0.07140	T	10	0.0058701336	0.00131	T	.	.	.	0.041	0.10877	.	.	0.0762999501168	0.06990	0.44876693193443123	0.44794	0.00135318849536	0.00116	0.375132858753	0.21565	T	0.018789	0.15087	T	-0.575898	0.00204	T	-0.589626	0.13698	T	0.00796782967634361	0.00094	T	0.524848	0.17228	T	0.12716949	0.29766	0.08327982	0.19073	0.12716949	0.29766	0.08327982	0.19073	-5.475	0.41633	T	.	.	0.067	0.02578	B	.	.	-0.137257	0.03426	0.625	0.88951002453397143	0.18387	0.03741	0.09041	N	AEI	0.126572	0.24357	N	-1.05540064367255	0.07481	0.3477117	-1.16283454225122	0.06540	0.3151413	0.00251753019336998	0.09495	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.47	-5.53	0.02351	-0.616000	0.05686	-1.941000	0.04461	0.665000	0.62972	0.031000	0.20493	0.000000	0.08366	0.874000	0.41677	0.1107:0.2299:0.3388:0.3206	2.065	0.03382	918	0.19598	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	432.46	34	chr7	15385509	.	T	C	432.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.69;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=-0.217;SOR=0.713	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1203	6	0	1	0
chr7	16421256	16421256	C	A	exonic	CRPPA	.	nonsynonymous SNV	CRPPA:NM_001101417:exon1:c.G67T:p.G23C,CRPPA:NM_001101426:exon1:c.G67T:p.G23C,CRPPA:NM_001368197:exon1:c.G67T:p.G23C	.	4	1517	1	0	0	1	0.000329489	.	.	.	252664	not_provided|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_7|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2U|not_specified	MedGen:C3661900|MONDO:MONDO:0013835,MedGen:C3553330,OMIM:614643,Orphanet:899|MONDO:MONDO:0014474,MedGen:C5190987,OMIM:616052,Orphanet:352479|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.406	.	.	0.00179712	0.0025	0.0192	0	0	.	0	0	0	0.0001552	24	154602	rs187484645	0.0003	0.0003	0.0003	0.0003	0.0104	0.0002	0.0002	0.0093	0.0089	0.0104	0.0013	0	0	0	0.0008	7.313e-06	0.0008	5.219e-05	0.0030	0.0030	0.0031	0.0029	0.0100	0.0028	0.0027	0.0092	0.0089	0.0100	0	0.0018	0	0	0	0	4.415e-05	0.0052	0	0.003	0.68238	D	0.008	0.67890	D	0.999	0.77913	D	0.908	0.64494	P	0.005769	0.32522	U	0.112873	0.999999	0.08975	N	0	0.06538	N	-2.3	0.87671	D	-1.32	0.32991	N	0.259	0.29889	-0.4070	0.71805	T	0.412	0.76013	T	10	0.007257074	0.00165	T	.	.	.	0.406	0.71869	.	.	0.607763699848	0.60461	0.3266648430144761	0.32579	0.31356799062	0.33647	0.739612936974	0.72916	T	0.00892	0.08152	T	-0.258921	0.13026	T	-0.136737	0.60400	T	0.0612600146241787	0.07366	T	0.522748	0.17058	T	0.24165773	0.47084	0.22334473	0.47210	0.2986891	0.52787	0.25757986	0.51476	-5.736	0.45307	T	.	.	0.122	0.27583	B	.;.	.;.	2.698949	0.35250	19.85	0.99662192690616036	0.78011	0.62254	0.31726	D	AEFDBHCIJ	0.069808	0.13833	N	-0.0304149960621994	0.40483	2.404802	-0.145443626852849	0.33583	1.922607	0.99999999966789	0.74766	0.437478	0.07067	0	0.491552	0.07993	0	0.606814	0.37721	0	0.249971	0.05119	0	.	.	3.97	3.97	0.45241	0.305000	0.19006	0.854000	0.22166	0.518000	0.23583	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.9007:0.0:0.0992	9.391	0.37535	942	0.12992	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007026	0.000000	0.016807	0.013761	0.000000	0.000000	0.000000	0.000000	0.1429	73.0	21	chr7	16421256	.	C	A	73.0	.	AC=2;AF=0.143;AN=14;DP=170;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=24.33;SOR=1.179	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1098	6	1	0	0
chr7	16421291	16421291	G	C	exonic	CRPPA	.	nonsynonymous SNV	CRPPA:NM_001101417:exon1:c.C32G:p.P11R,CRPPA:NM_001101426:exon1:c.C32G:p.P11R,CRPPA:NM_001368197:exon1:c.C32G:p.P11R	.	12	1507	2	0	1	3	0.00066313	.	.	.	134732	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2U|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A,_7|not_specified|Congenital_Muscular_Dystrophy,_alpha-dystroglycan_related|CRPPA-related_disorder|not_provided	MONDO:MONDO:0014474,MedGen:C5190987,OMIM:616052,Orphanet:352479|MONDO:MONDO:0013835,MedGen:C3553330,OMIM:614643,Orphanet:899|MedGen:CN169374|MedGen:CN239202|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.408	.	.	0.00678914	0	0	0	0	.	0	.	0	0.0024205	63	26028	rs192925278	0.0006	0.0005	0.0007	0.0005	0.0230	0.0006	0.0005	0.0214	0.0207	0.0230	0.0026	0	0	0	0.0010	2.673e-05	0.0018	7.177e-05	0.0068	0.0068	0.0071	0.0065	0.0242	0.0065	0.0063	0.0229	0.0224	0.0242	0	0.0016	0	0	0	0	1.472e-05	0.0024	0	0.0	0.91255	D	0.022	0.57587	D	0.127	0.26966	B	0.056	0.26147	B	0.000087	0.51296	U	0.000000	0.898632	0.36118	D	0	0.06538	N	-2.43	0.88847	D	-1.62	0.38924	N	0.183	0.19861	-0.6596	0.62293	T	0.021	0.08732	T	10	0.0046298504	0.00097	T	.	.	.	0.408	0.72022	.	.	0.381071309025	0.37720	0.6609475744154341	0.66031	0.0619630483985	0.06898	0.731640517712	0.71746	T	0.005886	0.05335	T	-0.250449	0.14043	T	-0.116272	0.62106	T	0.394152469466043	0.28722	T	0.541246	0.18358	T	0.27932873	0.50983	0.6248159	0.78133	0.38214388	0.59471	0.5896424	0.76193	-4.328	0.28568	T	.	.	0.111	0.21390	B	.;.	.;.	3.236778	0.44165	21.9	0.99599334484809532	0.74101	0.54945	0.29741	D	AEFDBHCIJ	0.082015	0.16601	N	-0.486950985845621	0.22508	1.202313	-0.444769440701728	0.23697	1.293694	0.999999999863183	0.74766	0.437478	0.07067	0	0.491552	0.07993	0	0.606814	0.37721	0	0.249971	0.05119	0	.	.	3.97	2.99	0.33673	0.869000	0.27648	5.333000	0.48324	0.582000	0.30178	0.234000	0.24685	1.000000	0.68203	0.006000	0.07323	0.0:0.1651:0.8349:0.0	12.913	0.57586	942	0.12992	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004202	0.016667	0.000000	0.005102	0.000000	0.000000	0.000000	0.000000	0.07143	131.83	9	chr7	16421291	.	G	C	131.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.998;DP=120;ExcessHet=0;FS=2.632;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-1.831;SOR=1.802	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1098	6	0	1	0
chr7	16600829	16600829	G	A	exonic	ANKMY2	.	nonsynonymous SNV	ANKMY2:NM_020319:exon10:c.C1258T:p.L420F	.	426	1044	50	2	0	54	0.0252101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	.	0.0067	0.00439297	0.0071	0.0013	0.0058	0	0.0008	0.0104	0.0132	0.0040	0.0068563	1060	154602	rs35504966	0.0067	0.0067	0.0065	0.0069	0.0562	0.0066	0.0065	0.0511	0.0492	0.0029	0.0055	0.0747	0	0.0011	0.0562	0.0054	0.0121	0.0046	0.0064	0.0064	0.0068	0.0060	0.0087	0.0061	0.0060	0.0075	0.0070	0.0015	0	0.0087	0.0786	0.0002	0.0009	0.0476	0.0064	0.0133	0.0050	0.088	0.32296	T	0.141	0.33442	T	0.119	0.26641	B	0.07	0.27859	B	0.298204	0.03938	N	1.466450	1	0.08975	N	0.345	0.11182	N	-0.75	0.73311	T	-0.63	0.18459	N	0.045	0.01740	-0.8165	0.54152	T	0.214	0.57547	T	10	0.0029207766	0.00047	T	.	.	.	0.219	0.51417	.	.	0.626644753645	0.62360	0.12344504020081694	0.12270	0.0543416032406	0.06012	0.250016897917	0.03769	T	0.001235	0.00725	T	-0.539205	0.00339	T	-0.543302	0.17974	T	0.00773720539080692	0.00090	T	0.448855	0.12628	T	0.044852592	0.07242	0.06048345	0.11525	0.044852592	0.07242	0.06048345	0.11524	-5.901	0.45444	T	.	.	0.068	0.02829	B	.	.	1.195981	0.15877	12.16	0.97636649181179258	0.35051	0.05254	0.11090	N	AEFBI	0.061389	0.11733	N	-0.782526810651424	0.13765	0.6805295	-0.788620490741912	0.14774	0.7737219	0.00813037390479041	0.11615	0.706298	0.61202	0	0.627178	0.54094	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.97	2.83	0.32150	0.199000	0.17037	1.786000	0.28758	0.676000	0.76740	0.000000	0.06391	0.009000	0.19889	0.556000	0.30317	0.0:0.4482:0.5518:0.0	12.596	0.55826	939	0.14249	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.037261	0.020202	0.042120	0.090643	0.000000	0.034483	0.012195	0.011364	0.07143	1167.63	35	chr7	16600829	.	G	A	1167.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.327;DP=281;ExcessHet=0;FS=2.612;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-2.235;SOR=0.965	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	6	0	1	0
chr7	16636457	16636457	-	AA	splicing	ANKMY2	NM_020319:exon2:c.68-2->TT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0.0009	0.0059	0.0027	0.0005	0.0030	0.0028	0.0053	0.0006147	16	26028	rs34755603	0.0048	0.0093	0.0049	0.0047	0.0115	0.0047	0.0047	0.0104	0.0100	0.0033	0.0115	0.0034	0.0030	0.0040	0.0044	0.0046	0.0049	0.0073	0.0002	0.0003	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	8.191e-05	0	0.0001	0	0	0.0004	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	318.56	12	chr7	16636457	.	T	TAA	318.56	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.042;DP=87;ExcessHet=2.5225;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.78;ReadPosRankSum=0.355;SOR=0.839	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,544	6	0	1	0
chr7	20409708	20409708	A	G	exonic	ITGB8	.	nonsynonymous SNV	ITGB8:NM_002214:exon13:c.A2117G:p.Q706R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.0126522439089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.859e-07	6.841e-07	0	1.378e-06	2.996e-05	0	0	.	.	2.996e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.83	0.02913	T	0.828	0.03750	T	0.979	0.59044	D	0.604	0.50922	P	0.000009	0.62929	D	0.000000	0.999957	0.52396	D	0.695	0.17993	N	0.82	0.48142	T	-0.17	0.09627	N	0.669	0.74826	-0.8560	0.51548	T	0.160	0.49463	T	10	0.68027294	0.71237	D	0.012652	0.31409	T	0.209	0.49871	0.297	0.26202	0.903858990941	0.90290	0.6274071733814277	0.62673	0.478837058199	0.46943	0.624047994614	0.56301	T	0.211235	0.57195	T	0.195225	0.73447	D	0.0426513	0.73102	D	0.862199604511261	0.51252	D	0.79772	0.44184	T	0.17436367	0.38236	0.14047283	0.33483	0.17436367	0.38235	0.14047283	0.33483	-6.007	0.50556	T	.	.	0.306	0.53495	B	.;.	.;.	3.488707	0.48758	22.7	0.99706054772619024	0.81005	0.97149	0.72977	D	AEFBI	0.732266	0.67908	D	0.575325232318842	0.71638	5.681244	0.642938689559077	0.78087	6.805972	0.999992234034168	0.74766	0.651	0.46895	0	0.601575	0.49859	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	6.06	6.06	0.98340	6.424000	0.73282	11.275000	0.91537	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	16.609	0.84711	659	0.61982	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	35	chr7	20409708	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1109	6	1	0	0
chr7	21903033	21903033	G	A	exonic	CDCA7L	.	nonsynonymous SNV	CDCA7L:NM_001127371:exon8:c.C1141T:p.L381F,CDCA7L:NM_018719:exon9:c.C1279T:p.L427F,CDCA7L:NM_001127370:exon10:c.C1177T:p.L393F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.545	0.0699454345617	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1299767891	6.842e-07	6.841e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.295	0.90403	M	0.34	0.58613	T	-3.74	0.71042	D	0.86	0.86941	0.027	0.82799	D	0.441	0.77928	T	10	0.9467933	0.94006	D	0.069945	0.70868	D	0.545	0.81077	0.858	0.95662	0.780657852685	0.77863	0.7880493888786723	0.78756	1.91311269366	0.92925	0.735585093498	0.72323	T	0.626378	0.88361	D	0.091594	0.63367	D	-0.106208	0.62911	T	0.998971581459045	0.95761	D	0.952605	0.92599	D	0.79861253	0.83817	0.76817507	0.86309	0.79861253	0.83818	0.76817507	0.86310	-9.477	0.70716	D	.	.	0.941	0.88401	P	.;.;.	.;.;.	5.421571	0.90701	31	0.99890813410612078	0.96513	0.98623	0.84820	D	AEFBI	0.700675	0.65762	D	0.795052017268525	0.85796	8.684041	0.724310667477347	0.84223	8.232992	0.999999999097164	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.43	4.55	0.55429	6.889000	0.75444	9.935000	0.82611	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0714:0.0:0.9286:0.0	14.355	0.66294	822	0.40702	.;Zinc-finger domain of monoamine-oxidase A repressor R1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	178.92	51	chr7	21903033	.	G	A	178.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.872;DP=533;ExcessHet=0.4139;FS=238.164;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=0.241;SOR=8.409	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,35:152:99:0|1:21903033_G_A:102,0,3000:21903033	4	0	2	1
chr7	23689304	23689304	C	T	exonic	FAM221A	.	nonsynonymous SNV	FAM221A:NM_001127365:exon2:c.C101T:p.P34L,FAM221A:NM_001300932:exon2:c.C101T:p.P34L,FAM221A:NM_001127364:exon3:c.C275T:p.P92L,FAM221A:NM_199136:exon3:c.C275T:p.P92L	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.0698923609371	0.0006	0.000399361	0.0006	9.617e-05	0.0023	0	0	0.0007	0	0.0002	0.0006015	93	154602	rs146280373	0.0005	0.0005	0.0004	0.0005	0.0086	0.0004	0.0004	0.0065	0.0058	0.0004	0.0022	0.0025	0	0	0.0086	0.0003	0.0010	0.0007	0.0006	0.0006	0.0005	0.0008	0.0034	0.0005	0.0005	0.0027	0.0024	0.0002	0	0.0034	0.0017	0	0	0.0034	0.0004	0.0009	0.0002	0.03	0.72154	D	0.01	0.66756	D	1.0	0.90584	D	0.992	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.13	0.88074	M	2.26	0.17596	T	-6.08	0.90254	D	0.679	0.73285	-0.8282	0.53416	T	0.159	0.49313	T	10	0.054255247	0.05747	T	0.069892	0.70854	D	0.405	0.71791	.	.	0.319970858106	0.31615	0.5133890948224684	0.51260	0.431895095906	0.43380	0.536094248295	0.43895	T	0.068009	0.41409	T	-0.279821	0.10686	T	-0.180887	0.56441	T	0.148312047880543	0.16968	T	0.918208	0.70605	D	0.27991724	0.51040	0.32662925	0.58569	0.27991724	0.51040	0.32662925	0.58568	-5.261	0.39556	T	.	.	0.119	0.26106	B	.;.;.;.	.;.;.;.	3.980369	0.58511	24.0	0.99811133742379354	0.89531	0.98569	0.84201	D	AEFBI	0.832786	0.75110	D	0.691147521362376	0.79050	6.997086	0.579215272155648	0.73450	5.972681	0.9999999875552	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.528226	0.09195	0	.	.	5.71	5.71	0.89031	7.425000	0.79444	5.889000	0.50737	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.060000	0.15972	0.0:1.0:0.0:0.0	19.849	0.96730	683	0.59664	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.000000	0.008152	0.017544	0.000000	0.025862	0.006098	0.015152	0.08333	190.27	31	chr7	23689304	.	C	T	190.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.278;DP=234;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.61;ReadPosRankSum=2.28;SOR=0.673	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	5	0	1	1
chr7	23698220	23698220	-	C	exonic	FAM221A	.	frameshift insertion	FAM221A:NM_001300932:exon4:c.493dupC:p.I166Hfs*17,FAM221A:NM_199136:exon5:c.667dupC:p.I224Hfs*17	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.939e-07	6.841e-07	0	1.394e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1078.23	35	chr7	23698220	.	T	TC	1078.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.268;DP=269;ExcessHet=0;FS=0.906;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=0.85;SOR=0.874	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	5	0	1	1
chr7	26152944	26152944	C	T	exonic	NFE2L3	.	nonsynonymous SNV	NFE2L3:NM_004289:exon1:c.C446T:p.A149V	.	411	1104	7	0	0	7	0.00316027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	0.000998403	0.0041	0	0.0208	0	.	0.0087	0	0.0029	0.0006662	103	154602	rs200699467	0.0064	0.0059	0.0065	0.0063	0.0073	0.0063	0.0062	0.0071	0.0071	0.0012	0.0049	0.0051	0	0.0006	0.0053	0.0073	0.0054	0.0024	0.0039	0.0040	0.0044	0.0035	0.0065	0.0037	0.0036	0.0060	0.0058	0.0017	0.0077	0.0031	0.0049	0.0002	0.0002	0.0034	0.0065	0.0038	0.0014	0.051	0.39334	T	0.021	0.58089	D	0.608	0.39540	P	0.306	0.41250	B	0.561020	0.11336	N	0.794258	1	0.08975	N	2.015	0.55033	M	2.23	0.18083	T	-1.55	0.37566	N	0.064	0.03613	-1.0556	0.12882	T	0.044	0.18906	T	10	0.004148364	0.00082	T	.	.	.	0.031	0.07369	.	.	0.298403945805	0.29456	0.17218008392784495	0.17138	1.79946624974	0.91631	0.801559329033	0.82201	T	0.065212	0.32632	T	-0.563246	0.00243	T	-0.577275	0.14789	T	0.0340217854875971	0.02641	T	0.452755	0.12846	T	0.035513688	0.04193	0.05589209	0.09889	0.035513688	0.04193	0.05589209	0.09889	-4.758	0.34098	T	.	.	0.097	0.15743	B	.	.	2.655587	0.34589	19.67	0.99622406544648956	0.75533	0.39657	0.26262	N	AEFBHCI	0.052224	0.09301	N	-0.323381573486189	0.28262	1.557411	-0.370738187714241	0.25873	1.425612	0.999998999096297	0.74766	0.733237	0.96898	0	0.56911	0.20461	1	0.600757	0.32118	0	0.375	0.06713	1	.	.	4.67	2.79	0.31792	0.020000	0.13359	0.932000	0.22787	0.463000	0.21641	0.004000	0.16614	0.467000	0.25033	0.079000	0.17189	0.3824:0.6176:0.0:0.0	9.566	0.38561	834	0.38640	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006803	0.014493	0.002415	0.000000	0.000000	0.000000	0.005208	0.000000	0.07143	220.86	16	chr7	26152944	.	C	T	220.86	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.132;DP=141;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=0.816;SOR=0.534	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,1350	6	0	1	0
chr7	26185101	26185101	A	G	exonic	NFE2L3	.	nonsynonymous SNV	NFE2L3:NM_004289:exon4:c.A1403G:p.Y468C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00593492754212	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1257538725	6.842e-07	6.84e-07	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.28646	T	0.149	0.32568	T	0.001	0.07471	B	0.003	0.08700	B	0.571702	0.11232	N	0.818266	1	0.08975	N	2.005	0.54552	M	1.33	0.35031	T	-3.72	0.70793	D	0.195	0.21449	-1.0279	0.21136	T	0.062	0.25815	T	10	0.091492236	0.16033	T	0.005935	0.15460	T	0.044	0.11924	0.355	0.35571	0.321951552304	0.31805	0.05371270807310095	0.05313	9.17400220826E-4	0.00079	0.274361073971	0.06717	T	0.40743	0.76305	T	-0.340087	0.05382	T	-0.55716	0.16644	T	0.0544244185099365	0.06261	T	0.687031	0.29593	T	0.10621394	0.25115	0.116848916	0.28208	0.10621394	0.25115	0.116848916	0.28208	-8.648	0.65405	D	.	.	0.086	0.10594	B	.	.	0.352089	0.07252	3.852	0.65872354562404356	0.07896	0.00159	0.00951	N	AEFDGBHCI	0.137812	0.25891	N	-0.813776083076035	0.12957	0.6350888	-0.813458185777479	0.14169	0.7390088	0.999999972103644	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.81	3.66	0.41111	0.521000	0.22601	0.468000	0.18684	0.686000	0.82685	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.677:0.1567:0.1662:0.0	4.952	0.13368	752	0.51611	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	452.53	34	chr7	26185101	.	A	G	452.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.03;DP=262;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.88;MQRankSum=-0.698;QD=6.03;ReadPosRankSum=-1.582;SOR=0.742	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1447	6	0	1	0
chr7	26185519	26185519	A	T	exonic	NFE2L3	.	nonsynonymous SNV	NFE2L3:NM_004289:exon4:c.A1821T:p.E607D	.	.	.	.	.	.	.	.	.	.	.	2367627	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.696	0.0727586448597	7.7e-05	.	0.0001	0.0004	8.646e-05	0.0007	0	3.001e-05	0	0	3.84e-05	1	26028	rs138448739	3.489e-05	3.489e-05	4.221e-05	2.751e-05	0.0003	2.697e-05	2.438e-05	0.0002	0.0001	0.0001	6.71e-05	0	0.0003	1.872e-05	0	1.889e-05	8.282e-05	5.798e-05	9.189e-05	9.842e-05	8.991e-05	9.396e-05	0.0004	5.522e-05	4.36e-05	0.0001	0.0001	0.0003	0	0	0	0.0004	0	0	1.47e-05	0	0	0.0	0.91255	D	0.016	0.60972	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.049219	0.957251	0.38015	D	2.64	0.77224	M	-3.04	0.92357	D	-2.67	0.57110	D	0.459	0.49602	0.685	0.92986	D	0.823	0.94033	D	10	0.5072564	0.61890	D	0.072759	0.71615	D	0.696	0.89007	0.542	0.65446	0.92883103195	0.92810	0.500446649731783	0.49965	0.00193141384385	0.00161	0.512253642082	0.40537	T	0.880109	0.97480	D	-0.0084153	0.50486	T	0.106513	0.77340	D	0.193306363260063	0.20037	T	0.70293	0.31283	T	0.8207149	0.85268	0.7005954	0.82359	0.8207149	0.85269	0.7005954	0.82360	-10.46	0.76617	D	.	.	0.547	0.66648	A	.	.	3.192555	0.43383	21.7	0.99838308919829355	0.91886	0.04860	0.10597	N	AEFDGBHCI	0.279400	0.39345	N	0.275233231161361	0.54895	3.654288	0.163983692994561	0.47887	3.012322	0.999999707937877	0.74766	0.78354	0.99714	0	0.827368	0.99789	0	0.643519	0.47002	0	0.741806	0.99463	0	.	.	5.71	-0.00344	0.13348	0.843000	0.27293	2.259000	0.31747	0.686000	0.82685	0.995000	0.38783	1.000000	0.68203	0.910000	0.44547	0.6331:0.0:0.3669:0.0	10.683	0.45022	747	0.52260	Basic leucine zipper domain, Maf-type|Basic-leucine zipper domain|Basic-leucine zipper domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1593.46	34	chr7	26185519	.	A	T	1593.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.774;DP=299;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.8;MQRankSum=0.337;QD=15.32;ReadPosRankSum=0.304;SOR=0.684	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1447	6	0	1	0
chr7	27094575	27094578	ACCC	-	exonic	HOXA1	.	frameshift deletion	HOXA1:NM_005522:exon2:c.870_873del:p.E290Dfs*41	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	104.19	34	chr7	27094574	.	GACCC	G	104.19	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.408;DP=474;ExcessHet=0.3476;FS=149.023;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=2.76;SOR=7.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,105,1265:.	5	0	2	0
chr7	27094578	27094578	-	GAGG	exonic	HOXA1	.	frameshift insertion	HOXA1:NM_005522:exon2:c.869_870insCCTC:p.E290Dfs*128	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	110.18	34	chr7	27094578	.	C	CGAGG	110.18	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.351;DP=461;ExcessHet=0;FS=150.595;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.68;ReadPosRankSum=2.71;SOR=7.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,105,1265:.	6	0	1	0
chr7	27095695	27095695	C	0	exonic	HOXA1	.	.	.	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	13	23	341	1132	13	2618	0.982648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	19382.3	62	chr7	27095695	.	C	*	19382.3	.	AC=1;AF=0.071;AN=14;DP=694;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=29.82;SOR=1.025	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:149:99:.:.:4658,4521,5098:.	6	0	1	0
chr7	27165154	27165154	C	G	exonic	HOXA9	.	nonsynonymous SNV	HOXA9:NM_152739:exon1:c.G304C:p.A102P	.	416	1093	13	0	0	13	0.00591178	.	.	.	1858685	Hand-foot-genital_syndrome	MONDO:MONDO:0007698,MedGen:C1841679,OMIM:140000,Orphanet:2438	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.279	0.0609112422334	0.0039	0.00119808	0.0039	0.0010	0.0045	0	0.0014	0.0054	0.0037	0.0018	0.0030595	473	154602	rs200450890	0.0049	0.0049	0.0050	0.0048	0.0057	0.0048	0.0048	0.0055	0.0055	0.0006	0.0049	0.0009	0	0.0021	0.0057	0.0056	0.0054	0.0019	0.0041	0.0041	0.0041	0.0040	0.0074	0.0038	0.0037	0.0063	0.0059	0.0014	0	0.0074	0	0	0.0020	0	0.0060	0.0047	0.0017	0.25	0.25457	T	0.247	0.47097	T	0.006	0.13644	B	0.021	0.19346	B	0.000567	0.43250	D	0.101272	0.991132	0.41700	D	1.685	0.43254	L	-3.22	0.93352	D	-0.3	0.11913	N	0.498	0.60918	0.054	0.83327	D	0.605	0.85987	D	10	0.008946419	0.00202	T	0.060911	0.68159	D	0.279	0.59619	.	.	0.825375682692	0.82372	0.3419688828052743	0.34109	0.560806340437	0.52599	0.5560105443	0.46704	T	0.154528	0.49586	T	-0.262687	0.12587	T	-0.148604	0.59368	T	0.0226547402669051	0.00983	T	0.652935	0.26315	T	0.31168482	0.53931	0.54382545	0.73632	0.31168482	0.53931	0.54382545	0.73633	-4.619	0.32410	T	.	.	0.094	0.18080	B	.;.	.;.	3.621539	0.51253	23.1	0.98279792430219792	0.39842	0.72795	0.35620	D	AEFDBHCIJ	0.413379	0.48307	N	-0.104404372209317	0.37201	2.160919	0.0800677656260278	0.43548	2.654229	0.999999999262732	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.608004	0.38603	0	0.581474	0.35302	0	.	.	5.36	5.36	0.76624	1.595000	0.36318	7.127000	0.57612	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.8157:0.1843:0.0	14.997	0.71100	199	0.92292	Hox9, N-terminal activation domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005589	0.021505	0.006793	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	906.27	35	chr7	27165154	.	C	G	906.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.495;DP=260;ExcessHet=0;FS=1.755;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=0.554;SOR=0.93	GT:AD:DP:GQ:PL	0/1:52,37:89:99:916,0,1321	5	0	1	1
chr7	29121048	29121048	A	G	exonic	CPVL	.	nonsynonymous SNV	CPVL:NM_019029:exon2:c.T14C:p.M5T,CPVL:NM_031311:exon2:c.T14C:p.M5T,CPVL:NM_001348054:exon3:c.T14C:p.M5T,CPVL:NM_001371261:exon3:c.T14C:p.M5T,CPVL:NM_001371262:exon3:c.T14C:p.M5T,CPVL:NM_001348052:exon4:c.T14C:p.M5T,CPVL:NM_001371258:exon5:c.T14C:p.M5T,CPVL:NM_001371263:exon5:c.T14C:p.M5T,CPVL:NM_001371264:exon5:c.T14C:p.M5T,CPVL:NM_001371256:exon6:c.T14C:p.M5T,CPVL:NM_001371260:exon6:c.T14C:p.M5T,CPVL:NM_001371257:exon7:c.T14C:p.M5T,CPVL:NM_001371255:exon8:c.T14C:p.M5T	.	437	1054	29	2	0	33	0.0154134	.	.	.	722485	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.150	0.00393197676452	0.0032	0.00139776	0.0044	0.0013	0.0012	0	0.0078	0.0049	0.0044	0.0076	0.0041138	636	154602	rs147204083	0.0048	0.0048	0.0047	0.0050	0.0081	0.0047	0.0047	0.0076	0.0074	0.0005	0.0009	0.0009	0	0.0060	0.0047	0.0051	0.0046	0.0081	0.0034	0.0034	0.0032	0.0036	0.0071	0.0031	0.0030	0.0052	0.0045	0.0009	0	0.0006	0.0012	0	0.0072	0	0.0052	0.0019	0.0071	0.151	0.24564	T	0.642	0.06925	T	0.0	0.02946	B	0.0	0.01387	B	0.310750	0.14438	N	0.731612	0.999749	0.20516	N	1.355	0.33814	L	2.57	0.37230	T	-2.28	0.89534	N	0.403	0.44379	-1.0105	0.26760	T	0.026	0.11264	T	10	0.011277139	0.00247	T	0.003932	0.09274	T	0.150	0.39571	.	.	0.273070737957	0.26916	0.6551017289726563	0.65446	0.25543592257	0.28134	0.397573798895	0.24731	T	0.165156	0.51089	T	-0.473743	0.00806	T	-0.446737	0.28057	T	0.00545477012526975	0.00059	T	0.412859	0.10744	T	0.07881134	0.17968	0.12567994	0.30280	0.07881134	0.17968	0.12567994	0.30279	-3.718	0.19584	T	.	.	0.083	0.20972	B	.;.;.;.;.;.	.;.;.;.;.;.	0.511951	0.08810	5.586	0.56103058872541112	0.05481	0.74787	0.36594	D	AEFCI	0.339930	0.43692	N	-1.02774996376483	0.08030	0.3751471	-0.933905676629754	0.11297	0.5746828	0.00242513292687663	0.09418	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.6	0.299	0.15019	1.165000	0.31432	0.291000	0.16873	-0.051000	0.17024	0.822000	0.30018	0.001000	0.17328	0.112000	0.18829	0.561:0.0:0.1556:0.2834	3.635	0.07684	823	0.40596	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002520	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.007576	0.08333	519.27	27	chr7	29121048	.	A	G	519.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.03;DP=211;ExcessHet=0;FS=4.079;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=-1.673;SOR=1.358	GT:AD:DP:GQ:PL	0/1:32,22:54:99:529,0,743	5	0	1	1
chr7	30285550	30285558	GCCGCGGCG	-	exonic	ZNRF2	.	nonframeshift deletion	ZNRF2:NM_147128:exon1:c.193_201del:p.A69_A71del	.	1240	277	3	2	0	7	0.0124777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1417295176	0.0025	0.0015	0.0024	0.0025	0.0070	0.0024	0.0023	0.0059	0.0056	0.0058	0.0029	0	0.0024	0	0.0067	0.0023	0.0031	0.0070	0.0033	0.0033	0.0035	0.0032	0.0072	0.0031	0.0030	0.0056	0.0054	0.0063	0.0321	0.0019	0.0003	0.0021	0.0009	0.0072	0.0017	0.0020	0.0072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	127.43	3	chr7	30285549	.	CGCCGCGGCG	C	127.43	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.967;DP=37;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PL	0/0:9,0:9:13:0,13,219	4	0	2	1
chr7	30912228	30912228	G	A	exonic	AQP1	.	nonsynonymous SNV	AQP1:NM_001329872:exon1:c.G319A:p.V107I,AQP1:NM_198098:exon1:c.G319A:p.V107I	.	417	1088	15	2	0	19	0.00865604	.	.	.	1589491	not_provided|AQP1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.378	.	0.0010	0.00439297	0.0037	0.0002	0.0010	0.0001	0	0.0014	0.0034	0.0208	0.0032794	507	154602	rs35804488	0.0023	0.0023	0.0018	0.0029	0.0197	0.0023	0.0022	0.0189	0.0186	5.974e-05	0.0008	0.0036	0	6.15e-05	0.0061	0.0012	0.0030	0.0197	0.0014	0.0015	0.0012	0.0017	0.0168	0.0013	0.0012	0.0138	0.0128	0.0003	0	0.0008	0.0029	0.0002	9.422e-05	0.0068	0.0014	0.0019	0.0168	0.402	0.10412	T	0.511	0.10785	T	0.997	0.70673	D	0.96	0.70309	D	0.000008	0.62929	D	0.063541	0.989557	0.40976	D	0.92	0.23413	L	-2.05	0.85799	D	-0.65	0.18877	N	0.36	0.40164	-0.0472	0.81266	T	0.599	0.85722	D	10	0.009975493	0.00224	T	.	.	.	0.378	0.69612	.	.	0.786091790664	0.78411	0.6611793960095894	0.66054	1.07886715441	0.77077	.	.	.	0.458022	0.79616	T	-0.295333	0.09107	T	-0.180746	0.56453	T	0.0229172142271213	0.01013	T	0.926707	0.72990	D	0.31050563	0.53830	0.20391516	0.44490	0.31050563	0.53830	0.20391516	0.44489	-6.6	0.51053	T	0.13513500408540666	0.14661	0.119	0.24396	B	.	.	3.409413	0.47284	22.4	0.99823375948302329	0.90590	0.86205	0.45441	D	AEFGBCI	0.867877	0.78780	D	0.289237498746932	0.55602	3.724261	0.33964767613929	0.57886	3.956246	0.999999963690114	0.74766	0.582742	0.33608	0	0.59043	0.45803	0	0.602189	0.34648	0	0.620976	0.48614	0	.	.	4.46	4.46	0.53567	4.791000	0.62154	9.963000	0.82809	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:0.0:1.0:0.0	15.013	0.71224	877	0.30165	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005040	0.010101	0.000000	0.000000	0.000000	0.017241	0.003049	0.018939	0.07143	345.45	33	chr7	30912228	.	G	A	345.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.73;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=-0.154;SOR=0.836	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1410	6	0	1	0
chr7	31880847	31880847	C	T	exonic	PDE1C	.	nonsynonymous SNV	PDE1C:NM_001191056:exon3:c.G142A:p.V48I,PDE1C:NM_001191057:exon3:c.G142A:p.V48I,PDE1C:NM_001191058:exon4:c.G322A:p.V108I,PDE1C:NM_001191059:exon4:c.G142A:p.V48I,PDE1C:NM_001322055:exon4:c.G142A:p.V48I,PDE1C:NM_001322056:exon4:c.G142A:p.V48I,PDE1C:NM_001322057:exon4:c.G142A:p.V48I,PDE1C:NM_001322058:exon4:c.G322A:p.V108I,PDE1C:NM_001322059:exon4:c.G547A:p.V183I,PDE1C:NM_005020:exon4:c.G142A:p.V48I	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.0436171459372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.765e-06	2.737e-06	2.755e-06	2.774e-06	0.0002	6.5e-07	4.4e-07	.	.	0	0	0	0	0	0.0002	0	5.015e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.133	0.35455	T	0.937	0.52445	P	0.482	0.47127	P	0.039891	0.24120	N	0.463814	0.999997	0.58761	D	1.73	0.44655	L	-0.83	0.74265	T	-0.1	0.10308	N	0.465	0.53269	-0.0975	0.80155	T	0.480	0.80139	T	10	0.37081423	0.53461	T	0.043617	0.61074	D	0.249	0.55752	0.355	0.35571	0.732030257616	0.72964	0.19462362013890402	0.19380	1.0128183728	0.74832	0.664290249348	0.62022	T	0.230247	0.62507	T	0.0719425	0.61084	D	-0.134436	0.60596	T	0.893313407897949	0.54452	D	0.932607	0.74787	D	0.105617166	0.24973	0.11538262	0.27853	0.105617166	0.24973	0.11538262	0.27852	-5.778	0.45144	T	.	.	0.139	0.52110	B	.;.;.;.;.	.;.;.;.;.	4.498232	0.70332	25.5	0.99646519641206655	0.77005	0.97460	0.74892	D	AEFBI	0.798374	0.72494	D	0.553369311922217	0.70289	5.479544	0.593741273682789	0.74487	6.145868	0.999999999999997	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.43	5.43	0.79006	6.103000	0.71146	7.658000	0.64072	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:1.0:0.0:0.0	19.191	0.93653	860	0.33753	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	759.49	35	chr7	31880847	.	C	T	759.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.428;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.73;ReadPosRankSum=0.334;SOR=0.62	GT:AD:DP:GQ:PL	0/1:49,38:87:99:770,0,1171	6	0	1	0
chr7	32543202	32543202	A	G	exonic	AVL9	.	nonsynonymous SNV	AVL9:NM_015060:exon2:c.A155G:p.E52G	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.0205400783319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.35349	T	0.215	0.32355	T	0.998	0.73220	D	0.947	0.68407	D	0.000000	0.84330	D	0.043747	1	0.81001	D	2.555	0.74557	M	0.88	0.46028	T	-2.38	0.52451	N	0.509	0.55280	-0.8356	0.52937	T	0.215	0.57652	T	10	0.420497	0.56831	T	0.02054	0.43156	T	0.168	0.42943	0.43	0.47843	0.718990368013	0.71651	0.34028687488489134	0.33941	0.297899254872	0.32168	0.633121788502	0.57588	T	0.056782	0.30384	T	0.0340375	0.56260	T	-0.188884	0.55695	T	0.94720321893692	0.62631	D	0.915608	0.70674	D	0.27754948	0.50812	0.38207528	0.63202	0.27754948	0.50812	0.38207528	0.63202	-6.504	0.50317	T	.	.	0.121	0.29255	B	.;.;.	.;.;.	3.816084	0.55073	23.6	0.99877788657731204	0.95410	0.98423	0.82623	D	AEFBI	0.861915	0.78008	D	0.675193177719579	0.78006	6.785576	0.691803542014254	0.81756	7.601711	0.999999999109153	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	7.450000	0.79716	9.275000	0.79667	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.050	0.80553	710	0.56735	AVL9/DENND6 domain|Tripartite DENN domain;AVL9/DENND6 domain|Tripartite DENN domain;AVL9/DENND6 domain|Tripartite DENN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	2132.45	33	chr7	32543202	.	A	G	2132.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.89;DP=369;ExcessHet=0;FS=1.816;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.657;SOR=0.598	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1370	6	0	1	0
chr7	36334095	36334095	T	A	exonic	KIAA0895	.	nonsynonymous SNV	KIAA0895:NM_001199707:exon4:c.A1028T:p.K343I,KIAA0895:NM_001300956:exon4:c.A332T:p.K111I,KIAA0895:NM_015314:exon4:c.A914T:p.K305I,KIAA0895:NM_001100425:exon5:c.A1067T:p.K356I,KIAA0895:NM_001199706:exon5:c.A1058T:p.K353I,KIAA0895:NM_001199708:exon5:c.A758T:p.K253I	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266	0.016989910674	.	.	0.0001	0	0	0	0	2.998e-05	0	0.0007	9.06e-05	14	154602	rs756951445	9.577e-05	9.577e-05	4.901e-05	0.0001	0.0010	8.242e-05	7.783e-05	0.0008	0.0007	2.987e-05	0	0	0	0	0.0005	3.867e-05	0.0002	0.0010	9.19e-05	9.186e-05	7.707e-05	0.0001	0.0015	5.523e-05	4.361e-05	0.0007	0.0005	4.81e-05	0	0	0	0	0	0	7.349e-05	0	0.0015	0.046	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.99	0.78936	D	0.000003	0.62929	D	0.135551	0.999257	0.46462	D	2.175	0.60977	M	.	.	.	-5.15	0.85617	D	0.501	0.58543	-0.4743	0.69573	T	0.304	0.67482	T	9	0.09432003	0.16761	T	0.01699	0.38500	T	0.266	0.57999	0.344	0.33788	0.429320821379	0.42548	0.7874869522891219	0.78700	1.3443435746	0.83939	0.645510554314	0.59348	T	0.221269	0.58480	T	-0.234237	0.16091	T	-0.173996	0.57077	T	0.516865968704224	0.33250	D	0.969003	0.88824	D	0.4861675	0.66273	0.42547098	0.66354	0.4861675	0.66273	0.42547098	0.66354	-8.937	0.76473	D	.	.	0.323	0.54725	B	.;.;.;.;.;.	.;.;.;.;.;.	4.480131	0.69888	25.4	0.99480642334932545	0.66850	0.92964	0.56983	D	AEFBI	0.596313	0.59053	D	0.55681928315905	0.70499	5.510351	0.512280804660294	0.68815	5.272493	0.00254371976395842	0.09519	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.77	3.61	0.40494	3.809000	0.55311	2.854000	0.35159	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.999000	0.91618	0.0:0.0806:0.0:0.9194	9.995	0.41063	911	0.21964	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1035.45	33	chr7	36334095	.	T	A	1035.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.056;DP=302;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=0.108;SOR=0.673	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1136	6	0	1	0
chr7	36357346	36357348	AGG	-	exonic	KIAA0895	.	nonframeshift deletion	KIAA0895:NM_001199706:exon2:c.268_270del:p.P90del,KIAA0895:NM_001199707:exon2:c.382_384del:p.P128del,KIAA0895:NM_015314:exon2:c.268_270del:p.P90del,KIAA0895:NM_001100425:exon3:c.421_423del:p.P141del	.	432	1085	4	1	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	2.999e-05	0	0.0016	0.0001876	29	154602	rs777338392	0.0002	0.0002	0.0001	0.0003	0.0024	0.0002	0.0002	0.0021	0.0020	2.987e-05	0	0	0	0	0.0009	5.036e-05	0.0003	0.0024	0.0001	0.0001	8.996e-05	0.0002	0.0027	8.661e-05	7.253e-05	0.0016	0.0013	4.813e-05	0	0	0	0	0	0	7.349e-05	0	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.07143	2479.42	35	chr7	36357345	.	TAGG	T	2479.42	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.577;DP=308;ExcessHet=0;FS=1.464;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.32;ReadPosRankSum=-0.605;SOR=0.869	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1104	6	0	1	0
chr7	36618320	36618320	G	A	exonic	AOAH	.	nonsynonymous SNV	AOAH:NM_001177507:exon9:c.C632T:p.P211L,AOAH:NM_001177506:exon10:c.C728T:p.P243L,AOAH:NM_001637:exon10:c.C728T:p.P243L	.	427	1065	28	2	0	32	0.0148011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	.	0.0022	0.00878594	0.0093	0.0004	0.0258	0.0334	0.0109	0.0037	0.0143	0.0121	0.0084281	1303	154602	rs80187893	0.0046	0.0048	0.0044	0.0049	0.0327	0.0045	0.0045	0.0313	0.0307	0.0004	0.0235	0.0091	0.0327	0.0090	0.0092	0.0020	0.0057	0.0130	0.0051	0.0051	0.0041	0.0062	0.0278	0.0048	0.0047	0.0241	0.0227	0.0008	0	0.0131	0.0087	0.0278	0.0121	0.0034	0.0025	0.0066	0.0122	.	.	.	0.014	0.66756	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.84330	D	0.000000	0.999993	0.58761	D	.	.	.	.	.	.	.	.	.	0.813	0.81957	0.144	0.84958	D	0.472	0.79721	T	9	0.010548472	0.00234	T	.	.	.	.	.	.	.	.	.	0.7680294996490177	0.76751	.	.	0.489249646664	0.37333	T	0.496599	0.81883	T	0.040285	0.57085	T	0.308775	0.88597	D	0.0208232510523532	0.00782	T	0.954605	0.82717	D	0.7881408	0.83157	0.39030266	0.63829	0.7881408	0.83159	0.39030266	0.63829	-11.391	0.81759	D	.	.	0.274	0.52825	B	.;.;.	.;.;.	4.890986	0.80306	27.3	0.99870412119360086	0.94815	0.93504	0.58397	D	AEFBI	0.680081	0.64390	D	0.703733816015559	0.79876	7.171534	0.698820057804056	0.82288	7.730277	0.999991816901572	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.23	5.23	0.72570	5.619000	0.67408	11.398000	0.92662	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	15.824	0.78459	903	0.23940	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.005051	0.005435	0.002924	0.050000	0.008621	0.018293	0.003788	0.07143	1329.53	37	chr7	36618320	.	G	A	1329.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.14;DP=262;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=1.42;SOR=0.621	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,105,1244:.	6	0	1	0
chr7	36887577	36887577	T	C	exonic	ELMO1	.	nonsynonymous SNV	ELMO1:NM_001039459:exon3:c.A257G:p.N86S,ELMO1:NM_130442:exon3:c.A257G:p.N86S,ELMO1:NM_001206480:exon18:c.A1697G:p.N566S,ELMO1:NM_001206482:exon18:c.A1697G:p.N566S,ELMO1:NM_014800:exon18:c.A1697G:p.N566S	.	.	.	.	.	.	.	.	.	.	.	3957760	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.121	0.00527266604448	.	.	8.256e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs776212846	1.3e-05	1.3e-05	1.497e-05	1.1e-05	0.0002	8.31e-06	6.7e-06	3.983e-05	2.373e-05	0.0001	0	0	5.04e-05	0	0.0002	8.993e-06	1.656e-05	1.159e-05	3.942e-05	3.94e-05	3.854e-05	4.034e-05	0.0001	1.715e-05	1.129e-05	6.282e-05	4.299e-05	0.0001	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	D	0.044633	0.999779	0.50061	D	-1.04	0.01097	N	1.3	0.35590	T	0.46	0.03140	N	0.082	0.07262	-0.9687	0.37468	T	0.024	0.10419	T	10	0.0601604	0.07345	T	0.005273	0.13464	T	0.121	0.33580	0.289	0.24921	0.292174397486	0.28832	0.13182000497795354	0.13106	0.602164739039	0.55238	0.508613705635	0.40028	T	0.051168	0.28803	T	-0.305909	0.08114	T	-0.677193	0.07156	T	0.150453648360593	0.17139	T	0.945205	0.79675	D	0.49731943	0.66937	0.402753	0.64749	0.49731943	0.66938	0.402753	0.64749	-0.292	0.00470	T	.	.	0.061	0.01328	B	.;.;.;.;.	.;.;.;.;.	2.742262	0.35919	20.1	0.41093181787219041	0.02942	0.92294	0.55381	D	AEFBI	0.483444	0.52388	N	-0.468564775393684	0.23115	1.239066	-0.127156818240236	0.34299	1.971453	0.999996351238797	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.635551	0.53088	0	.	.	5.79	5.79	0.91751	5.781000	0.68615	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:0.0:1.0	16.119	0.81146	813	0.42397	.;Pleckstrin homology domain;.;Pleckstrin homology domain;Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	386.49	33	chr7	36887577	.	T	C	386.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.392;DP=206;ExcessHet=0;FS=1.393;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=-0.189;SOR=0.446	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr7	37896955	37896955	G	A	exonic	NME8	.	nonsynonymous SNV	NME8:NM_016616:exon17:c.G1630A:p.A544T	Ciliary dyskinesia, primary, 6, Autosomal recessive	2	1498	22	0	0	22	0.0072896	.	.	.	457778	Primary_ciliary_dyskinesia_6|not_provided|NME8-related_disorder|Primary_ciliary_dyskinesia	MONDO:MONDO:0012571,MedGen:C1970506,OMIM:610852,Orphanet:244|MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.466	0.0231904237042	0.0005	.	0.0007	0	0.0003	0	0	0.0005	0.0011	0.0025	0.0005304	82	154602	rs140494494	0.0004	0.0004	0.0003	0.0005	0.0056	0.0004	0.0004	0.0040	0.0035	0	8.951e-05	0	0	0	0.0056	0.0003	0.0004	0.0025	0.0003	0.0003	0.0002	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	0	0	0.0001	0	0.0004	0	0.0136	0.0003	0.0010	0.0017	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000093	0.51296	D	0.000000	1	0.81001	D	3.395	0.91620	M	0.57	0.54347	T	-3.31	0.65972	D	0.788	0.78451	0.012	0.82492	D	0.446	0.78209	T	10	0.16508648	0.30866	T	0.02319	0.46136	T	0.466	0.76156	.	.	0.823265127308	0.82159	0.4596927880514132	0.45887	0.173428693035	0.19532	0.395478457212	0.24438	T	0.158684	0.50181	T	-0.13874	0.30092	T	0.0223849	0.71784	D	0.151597695237339	0.17230	T	0.779322	0.41328	T	0.8688132	0.88768	0.88636106	0.94009	0.88563144	0.90137	0.87307584	0.93079	-8.856	0.66765	D	0.7138376332052604	0.79434	0.762	0.75740	P	.;.	.;.	4.694096	0.75243	26.3	0.99917509154065431	0.98518	0.97251	0.73587	D	AEFDI	0.860394	0.77825	D	0.910895644485619	0.92284	11.33537	0.82616459519788	0.91551	10.94417	0.999999861105815	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.54	5.54	0.82907	7.932000	0.87091	11.667000	0.94056	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.714000	0.34579	0.0:0.0:1.0:0.0	18.612	0.91242	920	0.19381	Nucleoside diphosphate kinase-like domain|Nucleoside diphosphate kinase-like domain;Nucleoside diphosphate kinase-like domain|Nucleoside diphosphate kinase-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004032	0.000000	0.001359	0.000000	0.000000	0.043103	0.000000	0.000000	0.07143	553.45	33	chr7	37896955	.	G	A	553.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.31;DP=269;ExcessHet=0;FS=0.838;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.51;ReadPosRankSum=-2.185;SOR=0.593	GT:AD:DP:GQ:PL	0/1:55,30:85:99:564,0,1380	6	0	1	0
chr7	40093057	40093057	G	A	exonic	CDK13	.	nonsynonymous SNV	CDK13:NM_003718:exon13:c.G3508A:p.V1170M,CDK13:NM_031267:exon13:c.G3328A:p.V1110M	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, Autosomal dominant	432	1080	9	1	0	11	0.00506679	.	.	.	700058	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.140	0.00978280832762	0.0058	0.00139776	0.0055	0.0010	0.0017	0	0.0053	0.0081	0.0022	0.0034	0.0052328	809	154602	rs3204309	0.0073	0.0073	0.0075	0.0071	0.0086	0.0072	0.0071	0.0085	0.0084	0.0009	0.0019	0.0012	2.519e-05	0.0058	0.0021	0.0086	0.0055	0.0033	0.0049	0.0049	0.0052	0.0045	0.0076	0.0046	0.0045	0.0070	0.0068	0.0016	0	0.0040	0.0012	0.0002	0.0056	0	0.0076	0.0062	0.0039	0.037	0.65419	D	0.244	0.37730	T	0.989	0.67487	D	0.945	0.68163	D	.	.	.	.	0.871166	0.35566	D	1.845	0.48678	L	0.8	0.48769	T	-0.68	0.24676	N	0.403	0.51315	-0.8610	0.51191	T	0.151	0.47926	T	8	0.00633201	0.00143	T	0.009783	0.25518	T	0.140	0.37593	.	.	0.54588693629	0.54243	0.21203907624671997	0.21119	0.683269447753	0.60155	0.591572642326	0.51715	T	0.104544	0.41421	T	-0.391562	0.02628	T	-0.327266	0.41772	T	0.0104990411463322	0.00145	T	0.909409	0.68816	D	0.0594915	0.12097	0.106112495	0.25522	0.05701002	0.11291	0.106112495	0.25521	-4.741	0.33896	T	0.20073865318517808	0.26650	0.096	0.27583	B	.;.;.;.	.;.;.;.	4.261681	0.64772	24.7	0.9981005539677178	0.89442	0.86096	0.45314	D	AEFBI	0.346772	0.44148	N	0.529868030409742	0.68866	5.276339	0.556915937888107	0.71881	5.722686	0.981191763519693	0.30230	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	4.98	0.65679	3.645000	0.54129	8.707000	0.78125	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1423:0.0:0.8577:0.0	10.595	0.44523	541	0.72942	.;.;.;.	.	.	.	.	rs3204309	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	2850.44	35	chr7	40093057	.	G	A	2850.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.06;DP=398;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=1.45;SOR=0.704	GT:AD:DP:GQ:PL	0/1:101,114:215:99:2861,0,2341	6	0	1	0
chr7	43624718	43624718	C	G	exonic	STK17A	.	nonsynonymous SNV	STK17A:NM_004760:exon7:c.C1121G:p.T374S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0106320113374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.13045	T	0.317	0.19304	T	0.013	0.16609	B	0.006	0.12133	B	0.032718	0.24992	N	0.277746	0.998147	0.22327	N	2.075	0.57047	M	-0.19	0.65931	T	0.48	0.03041	N	0.064	0.03613	-1.0419	0.16741	T	0.109	0.39392	T	10	0.115400106	0.21741	T	0.010632	0.27388	T	0.074	0.21613	0.163	0.06730	0.613747831775	0.61063	0.2658683285844839	0.26499	0.239766953823	0.26521	0.495270937681	0.38170	T	0.009004	0.08229	T	-0.0823907	0.39325	T	-0.356125	0.38501	T	0.750056266784668	0.43288	D	.	.	.	0.12240565	0.28764	0.066225044	0.13534	0.12240565	0.28764	0.066225044	0.13534	-5.001	0.36851	T	.	.	0.181	0.39305	B	.	.	3.389122	0.46917	22.4	0.9659045393350808	0.30369	0.93177	0.57526	D	AEFGBCI	0.709470	0.66354	D	-0.372321133435478	0.26460	1.444228	-0.16957771568949	0.32663	1.86049	0.99999999377476	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.723	0.93126	0	.	.	4.61	3.72	0.41857	6.248000	0.72374	4.362000	0.43121	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9177:0.0:0.0823	12.521	0.55405	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	66.5	51	chr7	43624718	.	C	G	66.5	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.053;DP=504;ExcessHet=0;FS=249.381;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.95;SOR=9.811	GT:AD:DP:GQ:PL	0/0:81,26:113:25:0,25,1544	5	0	1	1
chr7	44007580	44007582	GGA	-	exonic	SPDYE1	.	nonframeshift deletion	SPDYE1:NM_175064:exon5:c.945_947del:p.E317del,SPDYE1:NM_001378423:exon7:c.1065_1067del:p.E357del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.505e-06	0	0	0	0	1.549e-05	0	0	3.84e-05	1	26028	rs763995436	4.107e-06	4.104e-06	4.087e-06	4.128e-06	1.16e-05	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2411.79	40	chr7	44007579	.	TGGA	T	2411.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.51;DP=343;ExcessHet=0;FS=1.419;MLEAC=1;MLEAF=0.071;MQ=50.41;MQRankSum=1.31;QD=18.99;ReadPosRankSum=-0.305;SOR=0.865	GT:AD:DP:GQ:PL	0/1:64,63:127:99:2422,0,2456	6	0	1	0
chr7	44109137	44109139	AGG	-	exonic	AEBP1	.	nonframeshift deletion	AEBP1:NM_001129:exon8:c.1049_1051del:p.E352del	.	419	1099	4	0	0	4	0.00181653	.	.	.	1498944	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0035	.	0.0002	0	0.0003	0	0	0.0002	0	0.0002	0.0001552	24	154602	rs776612900	0.0002	0.0002	0.0002	0.0003	0.0064	0.0002	0.0002	0.0048	0.0042	5.974e-05	0.0005	7.652e-05	0	1.888e-05	0.0064	0.0002	0.0008	0.0002	0.0003	0.0003	0.0002	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	7.22e-05	0	0.0005	0	0	0	0.0034	0.0004	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004532	0.005051	0.004076	0.014620	0.000000	0.000000	0.000000	0.000000	0.1429	1928.98	35	chr7	44109136	.	AAGG	A	1928.98	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.58;DP=262;ExcessHet=0;FS=3.071;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=30.62;ReadPosRankSum=-0.078;SOR=0.112	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	6	1	0	0
chr7	44624507	44624507	C	T	exonic	OGDH	.	nonsynonymous SNV	OGDH:NM_001003941:exon2:c.C164T:p.S55L,OGDH:NM_001165036:exon2:c.C164T:p.S55L,OGDH:NM_001363523:exon2:c.C164T:p.S55L,OGDH:NM_002541:exon2:c.C164T:p.S55L	Alpha-ketoglutarate dehydrogenase deficiency, Autosomal recessive	9	1488	24	1	0	26	0.00866089	.	.	.	711001	not_provided|OGDH-related_disorder|Oxoglutaricaciduria	MedGen:C3661900|.|MONDO:MONDO:0008759,MedGen:C2752074,OMIM:203740,Orphanet:31	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	0.0065	0.00239617	0.0073	0.0012	0.0041	0.0001	0.0051	0.0113	0.0099	0.0013	0.0074385	1150	154602	rs2230445	0.0084	0.0084	0.0085	0.0083	0.0108	0.0083	0.0082	0.0096	0.0095	0.0012	0.0053	0.0064	0.0005	0.0069	0.0108	0.0097	0.0077	0.0017	0.0065	0.0065	0.0067	0.0063	0.0102	0.0062	0.0060	0.0096	0.0093	0.0013	0.0493	0.0056	0.0089	0	0.0054	0.0102	0.0102	0.0057	0.0010	0.002	0.78490	D	0.073	0.76473	T	0.196	0.49185	B	0.026	0.46066	B	0.000000	0.84330	D	0.000000	0.999991	0.81001	D	2.04	0.55661	M	3.18	0.44065	T	-1.04	0.79229	N	0.675	0.82761	-0.8200	0.53933	T	0.099	0.36882	T	10	0.008775711	0.00199	T	.	.	.	0.240	0.54500	.	.	0.585511498628	0.58225	0.7184091987425503	0.71783	0.468580847674	0.46195	0.668700695038	0.62653	T	0.007884	0.80993	T	-0.124402	0.32405	T	0.0602058	0.74259	D	0.0248309922447693	0.01251	T	0.967253	0.96997	D	0.75910515	0.81400	0.68841344	0.81671	0.75910515	0.81402	0.68841344	0.81672	-8.419	0.75147	D	.	.	0.258	0.68156	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.186321	0.63061	24.5	0.99880893242462043	0.95733	0.97124	0.72830	D	AEFDBI	0.737590	0.68274	D	0.303422790274948	0.56324	3.79694	0.329612306434553	0.57285	3.893858	0.999999998296174	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.74	3.85	0.43556	5.790000	0.68684	4.891000	0.45764	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.8538:0.1462:0.0	14.694	0.68723	605	0.67457	2-oxoglutarate dehydrogenase E1 component, N-terminal domain;.;2-oxoglutarate dehydrogenase E1 component, N-terminal domain;.;2-oxoglutarate dehydrogenase E1 component, N-terminal domain;2-oxoglutarate dehydrogenase E1 component, N-terminal domain;2-oxoglutarate dehydrogenase E1 component, N-terminal domain;2-oxoglutarate dehydrogenase E1 component, N-terminal domain	.	.	.	.	rs55711887	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013092	0.035354	0.019022	0.000000	0.000000	0.008621	0.012195	0.007576	0.07143	661.63	37	chr7	44624507	.	C	T	661.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.02;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.134;SOR=0.749	GT:AD:DP:GQ:PL	0/1:26,27:53:99:672,0,581	6	0	1	0
chr7	44757911	44757911	G	A	exonic	ZMIZ2	.	nonsynonymous SNV	ZMIZ2:NM_174929:exon5:c.G616A:p.V206I,ZMIZ2:NM_001300959:exon6:c.G520A:p.V174I,ZMIZ2:NM_031449:exon6:c.G616A:p.V206I	.	.	.	.	.	.	.	.	.	.	.	3357312	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.00576213108948	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1438883730	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.145	0.39334	T	0.4	0.15456	T	0.644	0.40509	P	0.287	0.40572	B	0.113831	0.19299	N	0.425439	1	0.08975	N	1.67	0.42885	L	1.56	0.29602	T	-0.28	0.11547	N	0.28	0.31702	-1.0697	0.09479	T	0.060	0.25273	T	10	0.08156583	0.13366	T	0.005762	0.14952	T	0.053	0.14996	0.224	0.14813	0.043077524339	0.03247	0.2509037034801029	0.25004	0.320128586243	0.34224	0.493646562099	0.37944	T	0.013022	0.15597	T	-0.206312	0.19900	T	-0.53413	0.18876	T	0.14852790958378	0.16986	T	0.870213	0.68770	D	0.048043314	0.08311	0.047651604	0.06909	0.048043314	0.08310	0.047651604	0.06908	-5.286	0.39804	T	.	.	0.087	0.11076	B	.;.;.;.;.;.	.;.;.;.;.;.	1.861308	0.23646	16.10	0.98900022115421427	0.48163	0.18189	0.20156	N	AEFDBI	0.105321	0.21047	N	-0.491160887405906	0.22370	1.193991	-0.563762267541268	0.20441	1.101302	0.999835291034619	0.43792	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.68	3.77	0.42499	1.389000	0.34060	2.803000	0.34863	0.676000	0.76740	0.813000	0.29893	0.967000	0.29559	0.992000	0.67800	0.091:0.0:0.73:0.1789	6.742	0.22628	759	0.50631	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1017.44	33	chr7	44757911	.	G	A	1017.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.756;DP=264;ExcessHet=0;FS=0.829;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-0.676;SOR=0.6	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1152	6	0	1	0
chr7	44766215	44766215	C	T	exonic	ZMIZ2	.	nonsynonymous SNV	ZMIZ2:NM_174929:exon15:c.C2216T:p.T739M,ZMIZ2:NM_001300959:exon16:c.C2120T:p.T707M,ZMIZ2:NM_031449:exon17:c.C2294T:p.T765M	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0374168177141	0.0032	0.00179712	0.0040	0.0007	0.0017	0	0.0006	0.0065	0.0023	0.0004	0.0038809	600	154602	rs145522270	0.0047	0.0047	0.0049	0.0046	0.0058	0.0046	0.0046	0.0056	0.0056	0.0008	0.0021	0.0007	2.524e-05	0.0018	0.0007	0.0058	0.0034	0.0005	0.0034	0.0034	0.0039	0.0029	0.0060	0.0031	0.0030	0.0055	0.0053	0.0011	0	0.0024	0.0012	0.0002	0.0010	0	0.0060	0.0019	0.0002	0.004	0.68238	D	0.041	0.50514	D	0.993	0.68779	D	0.78	0.63021	P	0.032632	0.25003	N	0.334339	0.999984	0.18198	N	2.175	0.60977	M	1.38	0.34050	T	-1.5	0.37759	N	0.333	0.37405	-0.9065	0.47274	T	0.121	0.42122	T	10	0.0073334873	0.00167	T	0.037417	0.57603	D	0.084	0.24469	.	.	0.0675242888579	0.06100	0.32799165464294694	0.32712	0.938946206287	0.72141	0.43015190959	0.29229	T	0.016657	0.22518	T	-0.499115	0.00578	T	-0.484452	0.23974	T	0.0279656033962965	0.01683	T	0.80082	0.44648	T	0.022889702	0.00984	0.037590984	0.03444	0.022889702	0.00984	0.037590984	0.03443	-3.227	0.12813	T	.	.	0.075	0.09239	B	.;.;.;.;.;.	.;.;.;.;.;.	3.719161	0.53136	23.3	0.99863451428077588	0.94184	0.35390	0.25291	N	AEFBI	0.189968	0.31721	N	0.147538658173564	0.48696	3.07871	0.0192892404207232	0.40610	2.426433	0.99946634495839	0.39843	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.67	4.79	0.60909	1.409000	0.34288	3.287000	0.37275	-0.176000	0.10722	0.005000	0.17040	0.998000	0.33993	0.877000	0.41881	0.2482:0.5464:0.1286:0.0768	4.509	0.11309	745	0.52414	.;.;.;.;.;.	.	.	.	.	rs145522270	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	575.63	34	chr7	44766215	.	C	T	575.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.32;DP=234;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=0.7;SOR=0.716	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1231	6	0	1	0
chr7	45100360	45100360	T	C	exonic	TBRG4	.	nonsynonymous SNV	TBRG4:NM_030900:exon9:c.A1531G:p.M511V,TBRG4:NM_199122:exon9:c.A1531G:p.M511V,TBRG4:NM_001261834:exon11:c.A1894G:p.M632V,TBRG4:NM_004749:exon11:c.A1861G:p.M621V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00722787610167	0.0036	0.000798722	0.0024	0.0009	0.0007	0	0	0.0041	0	0.0001	0.0024321	376	154602	rs151054640	0.0036	0.0036	0.0037	0.0035	0.0045	0.0035	0.0035	0.0044	0.0044	0.0004	0.0007	0.0003	0	0.0004	0	0.0045	0.0023	4.637e-05	0.0020	0.0020	0.0021	0.0018	0.0035	0.0018	0.0017	0.0031	0.0030	0.0010	0	0.0007	0.0003	0	0.0005	0	0.0035	0.0009	0.0002	0.02	0.49613	D	0.08	0.42086	T	0.009	0.17332	B	0.008	0.21939	B	0.000028	0.55875	D	0.184390	0.999088	0.46032	D	.	.	.	3.09	0.18875	T	-1.21	0.30762	N	0.158	0.27316	-1.0877	0.05925	T	0.026	0.11220	T	10	0.0063584745	0.00144	T	0.007228	0.19171	T	0.042	0.11227	.	.	0.102598925029	0.09809	0.6305731066624733	0.62991	0.25397677232	0.27969	0.412057220936	0.26742	T	0.016135	0.13395	T	-0.477243	0.00768	T	-0.45831	0.26783	T	0.00802068398211263	0.00095	T	0.671933	0.29365	T	0.22509915	0.45164	0.20146555	0.44128	0.22509915	0.45164	0.20146555	0.44127	-8.681	0.65622	D	.	.	0.141	0.31456	B	.;.;.;.	.;.;.;.	2.213000	0.28233	17.73	0.98199079195358785	0.39105	0.95484	0.64904	D	AEFDGBHCI	0.545345	0.55990	D	-0.196145228183853	0.33295	1.887289	-0.013498778564832	0.39105	2.313578	0.999999999953565	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	3.628000	0.54000	1.824000	0.29063	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.723000	0.34869	0.0:0.0:0.0:1.0	13.172	0.59026	712	0.56465	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1478.44	33	chr7	45100360	.	T	C	1478.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.3;DP=331;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=0.235;SOR=0.71	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	6	0	1	0
chr7	45109238	45109238	G	-	exonic	TBRG4	.	frameshift deletion	TBRG4:NM_001261834:exon2:c.33delC:p.M12Wfs*6	.	427	1085	9	1	0	11	0.00504356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0071	0.00319489	0.0080	0.0009	0.0037	0	0.0118	0.0113	0.0085	0.0042	0.0011142	29	26028	rs36007488	0.0093	0.0093	0.0094	0.0093	0.0107	0.0092	0.0091	0.0105	0.0105	0.0011	0.0039	0.0014	0	0.0122	0.0023	0.0107	0.0075	0.0037	0.0068	0.0068	0.0070	0.0067	0.0111	0.0065	0.0064	0.0105	0.0102	0.0013	0.0011	0.0054	0.0029	0	0.0107	0	0.0111	0.0076	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	249.59	19	chr7	45109237	.	TG	T	249.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.147;DP=179;ExcessHet=0;FS=2.199;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-1.157;SOR=0.184	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	6	0	1	0
chr7	47304866	47304866	T	C	exonic	TNS3	.	nonsynonymous SNV	TNS3:NM_022748:exon21:c.A2788G:p.I930V	.	.	.	.	.	.	.	.	.	.	.	3336688	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.197	0.117359035002	.	.	3.641e-05	0	0	0	0	6.261e-05	0	0	2.59e-05	4	154602	rs747449888	1.29e-05	1.368e-05	9.425e-06	1.657e-05	2.042e-05	7.64e-06	6.18e-06	7.3e-06	5.62e-06	0	0	0	0	0	0	1.308e-05	4.01e-05	2.042e-05	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.306542	0.14507	N	0.682222	1	0.08975	N	-0.095	0.04716	N	-2.71	0.90904	D	0.21	0.04776	N	0.055	0.02658	-0.6707	0.61797	T	0.478	0.80022	T	10	0.01872915	0.00410	T	0.117359	0.79710	D	0.197	0.47942	0.21	0.12781	0.196089822672	0.19227	0.128838686184923	0.12808	.	.	0.28546923399	0.08266	T	0.029511	0.21131	T	-0.291352	0.09501	T	-0.473516	0.25137	T	0.0237576864486293	0.01114	T	0.590841	0.21745	T	0.019660562	0.00501	0.029974442	0.01396	0.019660562	0.00501	0.029974442	0.01396	-2.411	0.05201	T	.	.	0.059	0.06159	B	.;.	.;.	-0.924826	0.00884	0.032	0.23255148983520527	0.00974	0.01885	0.05793	N	AEFDGBHI	0.054150	0.09820	N	-1.55764460289193	0.01490	0.06506577	-1.53505201848107	0.02080	0.09515552	0.999999732602144	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.7	-0.507	0.11386	-2.162000	0.01363	-2.057000	0.04278	-0.126000	0.13398	0.000000	0.06391	0.000000	0.08366	0.333000	0.25271	0.0:0.4046:0.0:0.5954	9.933	0.40701	906	0.23090	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	1374.44	34	chr7	47304866	.	T	C	1374.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.586;DP=289;ExcessHet=0;FS=1.619;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.628;SOR=0.499	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	6	0	1	0
chr7	47829595	47829595	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565G:p.L2189V	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00127835857952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	0.06381	T	0.161	0.31326	T	0.067	0.23653	B	0.015	0.17295	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.32	0.33002	L	2.05	0.20664	T	-0.76	0.21215	N	0.077	0.05162	-0.9874	0.33249	T	0.034	0.14683	T	10	0.047335982	0.04037	T	0.001278	0.01759	T	0.025	0.05312	0.437	0.48993	0.0884992946249	0.08302	0.058640025517176016	0.05805	0.097110365055	0.10970	0.267502307892	0.05817	T	0.053076	0.29342	T	-0.296889	0.08955	T	-0.664237	0.07983	T	0.0382535461650476	0.03377	T	0.442656	0.12286	T	0.04340317	0.06758	0.03085182	0.01594	0.04340317	0.06758	0.03085182	0.01594	-2.84	0.08557	T	0.18439717788962887	0.23915	0.085	0.10352	B	.	.	0.333476	0.07071	3.643	0.89928721472256545	0.19227	0.00981	0.03737	N	AEFDBI	0.033246	0.03905	N	-0.949154353178447	0.09711	0.4608325	-1.01287491586493	0.09502	0.4730853	0.999972890798845	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	-2.48	0.06052	-0.913000	0.04150	-0.189000	0.11056	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.901000	0.43729	0.4609:0.1887:0.1891:0.1613	0.856	0.01107	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	453.83	72	chr7	47829595	.	G	C	453.83	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-2.551;DP=502;ExcessHet=2.5225;FS=302.8;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.01;ReadPosRankSum=0.904;SOR=8.862	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:82,0:82:0:.:.:0,0,948:.	1	0	4	2
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1400.92	70	chr7	47829596	.	G	C	1400.92	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.226;DP=584;ExcessHet=14.2834;FS=320.552;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=2.96;ReadPosRankSum=0.688;SOR=10.536	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,61:122:99:.:.:598,0,678:.	0	0	7	0
chr7	47853147	47853147	A	G	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon31:c.T4940C:p.I1647T	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	420	1065	36	1	0	38	0.0175277	.	.	YES	700108	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.033	0.00307578698085	0.0024	0.00119808	0.0028	0.0006	0.0048	0.0001	0.0003	0.0031	0.0044	0.0038	0.0026132	404	154602	rs150396842	0.0025	0.0025	0.0025	0.0026	0.0269	0.0025	0.0024	0.0234	0.0221	0.0006	0.0032	0.0006	0	0.0002	0.0269	0.0025	0.0039	0.0039	0.0019	0.0019	0.0020	0.0017	0.0029	0.0017	0.0016	0.0026	0.0025	0.0005	0	0.0022	0.0009	0	9.413e-05	0.0374	0.0029	0.0028	0.0023	0.132	0.26519	T	0.13	0.34716	T	0.172	0.28767	B	0.025	0.20508	B	0.923955	0.07493	N	1.050930	1	0.08975	N	0.895	0.22405	L	1.9	0.23486	T	-2.15	0.48687	N	0.153	0.15749	-1.0059	0.28186	T	0.042	0.17910	T	10	0.0092950165	0.00210	T	0.003076	0.06636	T	0.033	0.08068	.	.	0.0954503805726	0.09146	0.2955123806695108	0.29464	0.12647757418	0.14255	0.317104578018	0.12981	T	0.060975	0.31530	T	-0.603463	0.00139	T	-0.637275	0.09869	T	0.00694634325530632	0.00079	T	0.363264	0.08416	T	0.08808688	0.20535	0.11958772	0.28864	0.08808688	0.20535	0.11958772	0.28863	-10.882	0.79007	D	0.19642316934644846	0.25944	0.365	0.57542	A	.	.	1.026868	0.14066	10.64	0.75558764966743985	0.11122	0.03166	0.08140	N	AEFI	0.043929	0.07004	N	-0.821283035922916	0.12767	0.6244539	-0.837001255752562	0.13600	0.7064044	0.244068471712208	0.18605	0.533608	0.22052	0	0.615948	0.52940	0	0.615948	0.41167	0	0.638833	0.57524	0	.	.	5.14	2.69	0.30923	0.979000	0.29098	1.846000	0.29223	0.756000	0.94297	0.001000	0.13787	0.001000	0.17328	0.613000	0.31716	0.8093:0.0:0.1907:0.0	6.861	0.23249	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.015136	0.010204	0.016304	0.026316	0.000000	0.000000	0.018405	0.011364	0.08333	312.27	36	chr7	47853147	.	A	G	312.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.368;DP=195;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=1.32;SOR=0.559	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1089	5	0	1	1
chr7	48103309	48103309	A	G	exonic	UPP1	.	nonsynonymous SNV	UPP1:NM_003364:exon6:c.A334G:p.I112V,UPP1:NM_001287426:exon7:c.A334G:p.I112V,UPP1:NM_001362774:exon7:c.A334G:p.I112V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0162703173878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.068e-05	0.0005	4.533e-05	3.607e-05	6.545e-05	3.187e-05	2.855e-05	3.432e-05	3.064e-05	6.545e-05	0	0	0	0	0	4.503e-05	0.0001	1.194e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.06669	T	0.844	0.03652	T	0.005	0.12996	B	0.013	0.16460	B	0.006375	0.32080	N	0.369553	0.659061	0.48481	D	0.65	0.16133	N	-2.14	0.86415	D	-0.25	0.11008	N	0.335	0.37613	-0.8153	0.54226	T	0.370	0.72932	T	10	0.17066589	0.31743	T	0.01627	0.37444	T	0.137	0.36984	0.393	0.41770	0.494366844524	0.49069	0.6359250264121555	0.63526	0.119767800777	0.13491	0.439313769341	0.30483	T	0.150536	0.55493	T	-0.0746563	0.40579	T	-0.345015	0.39777	T	0.0481831632055793	0.05176	T	0.90391	0.67021	D	0.036912184	0.04632	0.047135282	0.06722	0.036912184	0.04631	0.047135282	0.06722	-7.212	0.55568	T	.	.	0.115	0.22933	B	.;.;.;.	.;.;.;.	1.228969	0.16235	12.41	0.69032023839716439	0.08843	0.30303	0.24048	N	AEFDGBCI	0.037360	0.05126	N	-1.18467389851375	0.05232	0.2380039	-1.17438792066289	0.06340	0.3048925	0.99999892264264	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.43	-4.68	0.03070	1.426000	0.34478	0.250000	0.16416	-0.576000	0.04747	0.702000	0.28645	0.000000	0.08366	0.986000	0.61781	0.426:0.0:0.574:0.0	14.599	0.68020	804	0.43891	Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	512.99	52	chr7	48103309	.	A	G	512.99	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.199;DP=532;ExcessHet=2.5225;FS=97.472;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=0.37;SOR=8.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:84,19:103:99:.:.:149,0,2687:.	3	0	4	0
chr7	48278822	48278822	A	G	exonic	ABCA13	.	nonsynonymous SNV	ABCA13:NM_152701:exon18:c.A7628G:p.H2543R	.	.	.	.	.	.	.	.	.	.	.	2828475	not_provided|ABCA13-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.149	0.00650325006494	0.0010	0.000399361	0.0011	0	0.0004	0	0.0006	0.0018	0.0022	0.0003	0.001022	158	154602	rs191015288	0.0012	0.0012	0.0012	0.0012	0.0014	0.0012	0.0011	0.0014	0.0014	5.974e-05	0.0005	0.0003	2.52e-05	0.0003	0.0002	0.0014	0.0014	0.0003	0.0013	0.0013	0.0012	0.0014	0.0025	0.0011	0.0011	0.0019	0.0017	0.0003	0	0.0025	0.0006	0	0.0005	0.0034	0.0018	0.0033	0.0008	0.016	0.51853	D	0.013	0.63109	D	.	.	.	.	.	.	0.004504	0.33669	N	0.134020	1	0.08975	N	.	.	.	0.38	0.57575	T	-2.6	0.55983	D	0.083	0.05929	-0.9969	0.30783	T	0.114	0.40559	T	10	0.0078805685	0.00179	T	0.006503	0.17129	T	0.149	0.39377	.	.	0.586965457386	0.58371	0.09648609195751481	0.09580	0.0407981969761	0.04379	0.318692564964	0.13224	T	.	.	.	-0.412622	0.01910	T	-0.371956	0.36659	T	0.0686368321742888	0.08458	T	0.441056	0.12198	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24329	B	.	.	0.179326	0.05669	2.119	0.87836744561570046	0.17518	0.04057	0.09505	N	AEFBI	0.048011	0.08148	N	-0.414841284361555	0.24948	1.350793	-0.569519633626125	0.20289	1.092472	0.226836241665674	0.18420	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	4.87	2.39	0.28492	0.340000	0.19634	0.532000	0.19257	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.141000	0.19983	0.7088:0.0:0.1014:0.1898	3.985	0.09004	674	0.60593	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.008621	0.006098	0.003788	0.1429	4034.27	33	chr7	48278822	.	A	G	4034.27	.	AC=2;AF=0.143;AN=14;DP=311;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.33;SOR=0.77	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1045	6	1	0	0
chr7	48389220	48389220	T	C	exonic	ABCA13	.	nonsynonymous SNV	ABCA13:NM_152701:exon37:c.T11654C:p.I3885T	.	.	.	.	.	.	.	.	0.3602	0.708	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.866	.	.	.	3.402e-05	0	0	0	0.0002	4.616e-05	0	0	2.59e-05	4	154602	rs762713578	1.164e-05	1.163e-05	9.538e-06	1.377e-05	8.1e-06	7.09e-06	5.8e-06	3.81e-06	2.76e-06	0	0	0	0	0.0001	0	8.1e-06	1.658e-05	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	9.427e-05	0	1.47e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	0.000198	0.48115	U	0.000000	0.999771	0.48980	D	.	.	.	-3.46	0.94508	D	-4.02	0.74269	D	0.679	0.68603	0.871	0.95290	D	0.849	0.94970	D	10	0.84991646	0.84166	D	0.075093	0.72203	D	0.866	0.95949	0.741	0.87317	0.662629368687	0.65979	0.5355121239774284	0.53476	0.185356326507	0.20839	0.459538221359	0.33246	T	.	.	.	0.221288	0.75897	D	0.21054	0.83693	D	0.960603356361389	0.65851	D	0.908009	0.67517	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.473	0.63333	A	.	.	3.763972	0.54020	23.4	0.99386308498741427	0.62113	0.96541	0.69655	D	AEFBI	0.714046	0.66665	D	0.361527995934699	0.59351	4.113771	0.327293671882935	0.57150	3.879755	0.999999939844014	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.59	4.59	0.56297	6.569000	0.73882	7.806000	0.69288	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.276000	0.23917	0.0:0.0:0.0:1.0	11.620	0.50369	812	0.42537	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	256.53	38	chr7	48389220	.	T	C	256.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.25;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=-0.739;SOR=0.693	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	6	0	1	0
chr7	48925604	48925604	T	C	exonic	CDC14C	.	nonsynonymous SNV	CDC14C:NM_152627:exon1:c.T932C:p.I311T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.546e-05	0.0007	0	0	0	3.056e-05	0	0	3.84e-05	1	26028	rs535060750	2.442e-05	3.357e-05	2.876e-05	2.009e-05	0.0001	1.758e-05	1.551e-05	4.193e-05	2.548e-05	0.0001	0	0	0	0	0	2.575e-05	5.168e-05	0	2.628e-05	5.91e-05	5.138e-05	0	7.241e-05	8.14e-06	5.14e-06	1.92e-05	1.032e-05	7.241e-05	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.30427742	0.47954	T	.	.	.	.	.	.	.	.	.	0.8052475105205883	0.80479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.988576	0.96102	D	0.04003975	0.05641	0.16298227	0.37831	0.04003975	0.05640	0.16298227	0.37830	-10.56	0.77191	D	.	.	0.195	0.41648	B	.;.	.;.	3.565150	0.50180	22.9	0.80561412536919841	0.13261	0.51659	0.28947	D	AEFDGI	.	.	.	.	.	.	.	.	.	7.49279230425378E-5	0.04552	0.080785	0.02172	0	0.063388	0.01293	0	0.121075	0.03231	0	0.057018	0.00518	0	0.212979	0.31058	0.53	-1.06	0.09491	5.630000	0.67480	7.775000	0.68548	0.243000	0.18268	1.000000	0.71638	1.000000	0.68203	0.576000	0.30797	0.3321:0.0:0.0:0.6679	3.662	0.07780	944	0.12746	.;Dual specificity phosphatase, catalytic domain|Dual specificity protein phosphatase domain|Tyrosine specific protein phosphatases domain|Dual specificity protein phosphatase domain|Protein-tyrosine phosphatase, catalytic	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	160.44	66	chr7	48925604	.	T	C	160.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.871;DP=538;ExcessHet=0;FS=4.124;MLEAC=1;MLEAF=0.071;MQ=43.4;MQRankSum=-3.585;QD=1;ReadPosRankSum=2.22;SOR=1.118	GT:AD:DP:GQ:PL	0/1:136,25:161:99:171,0,3786	6	0	1	0
chr7	50368104	50368104	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C259G:p.L87V	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00431561606013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.5	0.15782	N	0.11	0.09631	-0.9997	0.30002	T	0.055	0.23375	T	7	0.043260276	0.03157	T	0.004316	0.10467	T	0.011	0.01250	0.272	0.22210	0.117191471859	0.11215	.	.	.	.	.	.	.	0.054479	0.29735	T	-0.291109	0.09525	T	-0.655934	0.08543	T	0.052731511290539	0.05973	T	0.256674	0.04023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.47294	B	.	.	-1.396602	0.00363	0.007	0.40883805656463257	0.02914	0.00305	0.01619	N	AEFGBIJ	0.028154	0.02430	N	-1.474115124829	0.02034	0.08940394	-1.65084572243601	0.01371	0.06194978	0.999999998577604	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.23	-8.46	0.00822	-2.694000	0.00900	-2.250000	0.03997	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.4857:0.2045:0.187:0.1228	2.202	0.03687	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	315.75	84	chr7	50368104	.	C	G	315.75	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-2.684;DP=728;ExcessHet=3.1439;FS=214.547;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=2.07;SOR=9.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:125,28:171:99:.:.:119,0,4120:.	1	0	4	2
chr7	56068539	56068539	C	G	exonic	SUMF2	.	nonsynonymous SNV	SUMF2:NM_001042468:exon2:c.C125G:p.T42R,SUMF2:NM_001042469:exon2:c.C125G:p.T42R,SUMF2:NM_001042470:exon2:c.C125G:p.T42R,SUMF2:NM_001130069:exon2:c.C125G:p.T42R,SUMF2:NM_001366647:exon2:c.C125G:p.T42R,SUMF2:NM_001366648:exon2:c.C125G:p.T42R,SUMF2:NM_015411:exon2:c.C125G:p.T42R	.	434	1078	9	1	0	11	0.00507614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.839	.	.	0.00898562	0.0045	0	0.0004	0.0001	0	1.5e-05	0.0056	0.0325	0.0039586	612	154602	rs369882538	0.0021	0.0021	0.0011	0.0030	0.0331	0.0020	0.0020	0.0320	0.0316	5.977e-05	0	0	5.038e-05	0	0.0010	1.349e-05	0.0024	0.0331	0.0013	0.0013	0.0007	0.0018	0.0389	0.0011	0.0011	0.0343	0.0326	4.816e-05	0	6.56e-05	0	0.0002	0	0.0034	1.47e-05	0	0.0389	0.001	0.78490	D	0.002	0.83351	D	0.999	0.77913	D	0.972	0.72923	D	0.000000	0.84330	D	0.045618	1	0.81001	D	.	.	.	-3.5	0.94658	D	-5.01	0.83292	D	0.564	0.58883	1.009	0.97333	D	0.901	0.96711	D	10	0.009661853	0.00217	T	.	.	.	0.839	0.94952	.	.	0.97771676376	0.97747	.	.	0.295235085784	0.31929	0.444704711437	0.31220	T	0.767328	0.94254	D	-0.0310321	0.47268	T	0.206333	0.83473	D	0.0776474800912881	0.09684	T	0.973103	0.92475	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.51428	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.385714	0.67640	25.1	0.99549633890726708	0.71023	0.99446	0.96131	D	AEFBI	0.884092	0.81351	D	0.774866610479177	0.84511	8.308345	0.738418617030705	0.85290	8.536415	0.999999999999312	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	7.019000	0.76152	.	.	0.443000	0.21123	1.000000	0.71638	0.984000	0.30665	0.997000	0.79791	0.0:1.0:0.0:0.0	17.245	0.86911	619	0.66147	Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme;.;Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002523	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015267	0.07143	216.44	33	chr7	56068539	.	C	G	216.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.486;DP=276;ExcessHet=0;FS=1.428;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.76;ReadPosRankSum=-0.519;SOR=0.625	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,113,1100	6	0	1	0
chr7	56078484	56078484	A	G	exonic	SUMF2	.	nonsynonymous SNV	SUMF2:NM_001042470:exon5:c.A545G:p.N182S,SUMF2:NM_001042469:exon7:c.A752G:p.N251S,SUMF2:NM_001146333:exon7:c.A533G:p.N178S,SUMF2:NM_001366647:exon7:c.A752G:p.N251S,SUMF2:NM_001366649:exon7:c.A148G:p.I50V,SUMF2:NM_001042468:exon8:c.A806G:p.N269S,SUMF2:NM_001366648:exon8:c.A797G:p.N266S,SUMF2:NM_015411:exon8:c.A797G:p.N266S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.651	0.175103463631	0.0003	0.000199681	0.0004	0.0001	0.0003	0.0009	0.0007	0.0005	0	0	0.0003622	56	154602	rs185755016	0.0003	0.0003	0.0003	0.0003	0.0007	0.0002	0.0002	0.0004	0.0003	0.0001	9.652e-05	8.21e-05	0.0006	0.0005	0.0007	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0003	0.0008	0.0002	0.0002	0.0003	0.0002	0.0002	0	0.0003	0	0.0008	0.0003	0	0.0002	0.0005	0.0002	0.067	0.44694	T	0.37	0.59732	T	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.999927	0.81001	D	.	.	.	-3.34	0.93975	D	-2.13	0.53577	N	0.791	0.84298	0.816	0.94605	D	0.834	0.94429	D	9	0.17976138	0.33127	T	0.175103	0.85129	D	0.651	0.86836	.	.	0.985546008383	0.98539	.	.	.	.	.	.	.	0.585405	0.86526	D	-0.173241	0.24746	T	-0.0621581	0.66182	T	0.0336462789917465	0.02578	T	0.988901	0.96613	D	.	.	.	.	.	.	.	.	-7.145	0.55086	T	.	.	0.4	0.60772	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.888979	0.56570	23.8	0.99818463006270841	0.90150	0.96970	0.71943	D	AEFDGBCI	0.943744	0.94997	D	0.670747596685034	0.77716	6.728591	0.677780561534023	0.80694	7.356396	0.99999999924756	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.08	5.08	0.68373	8.723000	0.91189	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.337	0.66154	628	0.65206	Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme;Sulfatase-modifying factor enzyme	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002016	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	331.46	22	chr7	56078484	.	A	G	331.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.694;DP=214;ExcessHet=0;FS=1.186;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.76;ReadPosRankSum=0.62;SOR=1.041	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	6	0	1	0
chr7	57120475	57120475	C	T	exonic	ZNF479	.	nonsynonymous SNV	ZNF479:NM_001370129:exon4:c.G940A:p.D314N,ZNF479:NM_033273:exon5:c.G940A:p.D314N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	.	0.00519169	0.0014	0.0160	0.0007	0	0	6.055e-05	0	0	0.0013063	34	26028	rs200731240	0.0005	0.0005	0.0006	0.0004	0.0184	0.0005	0.0005	0.0172	0.0168	0.0184	0.0006	0	0	0	0.0012	2.249e-05	0.0011	6.96e-05	0.0053	0.0052	0.0051	0.0055	0.0191	0.0050	0.0049	0.0179	0.0175	0.0191	0	0.0013	0	0	0	0.0087	7.524e-05	0.0015	0	0.296	0.14694	T	0.332	0.18449	T	0.0	0.02946	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	-0.65	0.02095	N	2.46	0.14907	T	1.05	0.01314	N	0.074	0.05287	-1.0057	0.28247	T	0.015	0.06138	T	9	0.0046885014	0.00099	T	.	.	.	0.015	0.02232	.	.	0.0884992946249	0.08302	0.008426440903960447	0.00806	0.857081204955	0.68784	0.496663451195	0.38363	T	0.001405	0.00865	T	-0.798065	0.00008	T	-0.906168	0.00460	T	0.0109056947240009	0.00156	T	0.0176649	0.00099	T	0.018914476	0.00415	0.043652445	0.05480	0.018914476	0.00415	0.043652445	0.05480	-4.253	0.27513	T	.	.	0.176	0.41843	B	.;.	.;.	-1.751073	0.00175	0.003	0.37153069577107806	0.02431	0.00460	0.02218	N	AEFBHCI	0.014428	0.00229	N	-2.42101653980265	0.00024	0.001047963	-2.50097795372806	0.00023	0.001017316	0.00170170772213859	0.08799	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.01	-2.03	0.06959	-12.742000	0.00002	.	.	-6.784000	0.00002	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3421:0.194:0.274:0.1899	0.363	0.00342	952	0.10565	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003727	0.005102	0.008174	0.004167	0.000000	0.000000	0.000000	0.000000	0.07143	1924.46	38	chr7	57120475	.	C	T	1924.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.716;DP=358;ExcessHet=0;FS=1.294;MLEAC=1;MLEAF=0.071;MQ=46.14;MQRankSum=-2.124;QD=13;ReadPosRankSum=-0.01;SOR=0.758	GT:AD:DP:GQ:PL	0/1:74,74:148:99:1935,0,1813	6	0	1	0
chr7	57126077	57126077	A	G	exonic	ZNF479	.	nonsynonymous SNV	ZNF479:NM_001370129:exon3:c.T203C:p.L68P,ZNF479:NM_033273:exon4:c.T203C:p.L68P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	.	0.0015	.	0.0019	0.0227	0.0007	0	0	4.68e-05	0.0011	0.0001	0.0015912	246	154602	rs368880723	0.0008	0.0009	0.0010	0.0007	0.0290	0.0008	0.0008	0.0275	0.0269	0.0290	0.0015	0	0	0	0.0017	2.878e-05	0.0021	0.0001	0.0086	0.0088	0.0086	0.0086	0.0303	0.0082	0.0081	0.0289	0.0283	0.0303	0	0.0023	0	0.0002	0	0.0068	0.0001	0.0038	0	0.0	0.91255	D	0.003	0.92824	D	0.998	0.73220	D	0.995	0.83170	D	.	.	.	.	0.969396	0.25756	N	3.155	0.88459	M	5.43	0.08898	T	-5.8	0.90608	D	0.539	0.56662	-1.0583	0.12184	T	0.016	0.06711	T	9	0.007774085	0.00177	T	.	.	.	0.106	0.30130	.	.	0.399889258716	0.39604	0.15528755531170418	0.15449	2.49876639053	0.97613	0.461199998856	0.33475	T	0.076139	0.42537	T	-0.146612	0.28842	T	-0.448375	0.27876	T	0.125320443948638	0.14943	T	0.605739	0.23533	T	0.21603887	0.44052	0.1753927	0.40001	0.21603887	0.44052	0.1753927	0.40000	-8.828	0.66583	D	.	.	0.564	0.69726	P	.;.;.	.;.;.	2.491709	0.32145	18.96	0.9920685062599307	0.55472	0.02451	0.06895	N	AEFI	0.041823	0.06409	N	-0.128800907833271	0.36141	2.085122	-0.497787039487669	0.22215	1.205506	2.0572787826891E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.25	1.25	0.20475	1.091000	0.30526	.	.	0.351000	0.19951	0.216000	0.24491	0.082000	0.22400	0.006000	0.07323	1.0:0.0:0.0:0.0	4.59	0.11696	952	0.10565	Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005285	0.005051	0.010870	0.004098	0.000000	0.000000	0.000000	0.000000	0.07143	419.44	35	chr7	57126077	.	A	G	419.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.448;DP=287;ExcessHet=0;FS=3.851;MLEAC=1;MLEAF=0.071;MQ=47.18;MQRankSum=-4.612;QD=4.71;ReadPosRankSum=0.39;SOR=1.225	GT:AD:DP:GQ:PL	0/1:67,22:89:99:430,0,1744	6	0	1	0
chr7	64266487	64266570	ACCACAAGAGAATTCATACTGGAGAGAAACCATACACATGTGAAGAATGTGGCAAAGCCTTTAGCTTATCCTCATCCCTCACTT	-	exonic	ZNF679	.	nonframeshift deletion	ZNF679:NM_153363:exon5:c.854_937del:p.S306_F333del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.19e-05	0	0	0	0	3.039e-05	0	0.0002	.	.	.	.	5.885e-05	5.951e-05	3.813e-05	7.978e-05	0.0005	4.878e-05	4.497e-05	0.0004	0.0004	2.988e-05	0	0	0	0	0	2.968e-05	9.938e-05	0.0005	9.874e-05	9.853e-05	0.0001	8.081e-05	0.0006	6.017e-05	4.888e-05	0.0002	9.044e-05	0.0002	0	0	0	0	0	0	4.417e-05	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	744.5	35	chr7	64266486	.	AACCACAAGAGAATTCATACTGGAGAGAAACCATACACATGTGAAGAATGTGGCAAAGCCTTTAGCTTATCCTCATCCCTCACTT	A	744.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.5;DP=259;ExcessHet=0;FS=2.366;MLEAC=1;MLEAF=0.071;MQ=58.58;MQRankSum=-1.507;QD=13.54;ReadPosRankSum=0.748;SOR=0.368	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr7	64927972	64927972	G	A	exonic	ZNF273	.	nonsynonymous SNV	ZNF273:NM_001385646:exon4:c.G353A:p.C118Y,ZNF273:NM_021148:exon4:c.G644A:p.C215Y,ZNF273:NM_001385652:exon5:c.G449A:p.C150Y,ZNF273:NM_001385643:exon6:c.G449A:p.C150Y,ZNF273:NM_001385649:exon6:c.G449A:p.C150Y,ZNF273:NM_001385644:exon8:c.G449A:p.C150Y,ZNF273:NM_001385645:exon8:c.G449A:p.C150Y	.	.	.	.	.	.	.	.	.	.	.	2334442	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.038	0.000968109799277	0.0002	0.000199681	0.0001	0	0.0002	0	0	0.0001	0	0.0002	0.0001035	16	154602	rs202155421	7.733e-05	7.73e-05	8.851e-05	6.603e-05	0.0002	6.535e-05	6.138e-05	9.799e-05	7.844e-05	2.991e-05	0.0002	0	0	0	0	7.735e-05	8.283e-05	0.0002	9.715e-05	9.488e-05	0.0001	8.515e-05	0.0002	5.826e-05	4.698e-05	0.0001	9.393e-05	0	0	6.936e-05	0	0	0	0	0.0002	0	0	0.008	0.58626	D	0.011	0.64786	D	0.068	0.23728	B	0.102	0.30857	B	.	.	.	.	1	0.08975	N	-0.26	0.03792	N	2.57	0.13552	T	3.37	0.00098	N	0.186	0.20262	-0.9634	0.38527	T	0.016	0.06377	T	9	0.021619678	0.00521	T	9.68E-4	0.01003	T	0.038	0.09825	.	.	0.0611884634855	0.05136	0.01428178836051786	0.01385	0.133534718987	0.15039	0.309951782227	0.11901	T	0.002656	0.02045	T	-0.494603	0.00613	T	-0.668804	0.07685	T	0.0335333955260426	0.02559	T	0.410759	0.10626	T	0.10610283	0.25089	0.12172852	0.29370	0.10610283	0.25089	0.12172852	0.29369	-2.278	0.04436	T	.	.	0.067	0.02428	B	.	.	0.473234	0.08429	5.184	0.39378796774743469	0.02714	0.00051	0.00397	N	AEFBCI	0.033530	0.03998	N	-1.58025488626808	0.01366	0.05953391	-1.67950839269413	0.01231	0.05544746	0.0165794903835563	0.12847	0.562547	0.31514	0	0.653731	0.59785	0	0.670488	0.60580	0	0.567892	0.33627	0	.	.	1.16	-2.32	0.06360	-0.415000	0.07170	.	.	-0.648000	0.04400	0.002000	0.15269	0.000000	0.08366	0.034000	0.13613	0.0:0.0:0.3213:0.6786	4.679	0.12111	730	0.54327	Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	803.86	63	chr7	64927972	.	G	A	803.86	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.09;DP=323;ExcessHet=0;FS=1.067;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=0.397;SOR=0.612	GT:AD:DP:GQ:PL	0/0:101,0:101:14:0,14,2458	6	0	1	0
chr7	64978838	64978838	C	T	exonic	ERV3-1-ZNF117;ZNF117	.	nonsynonymous SNV	ERV3-1-ZNF117:NM_001348050:exon4:c.G733A:p.G245R,ZNF117:NM_015852:exon4:c.G733A:p.G245R	.	430	1091	0	1	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00133733774499	0.0029	0.00159744	0.0009	0.0098	0.0006	0.0001	0	3.002e-05	0.0011	0.0004	0.0008409	130	154602	rs191281341	0.0003	0.0003	0.0003	0.0003	0.0087	0.0003	0.0003	0.0079	0.0076	0.0087	0.0006	0	2.521e-05	0	0.0012	4.407e-05	0.0009	0.0003	0.0023	0.0023	0.0024	0.0022	0.0080	0.0021	0.0020	0.0073	0.0071	0.0080	0	0.0007	0	0	0	0.0034	5.89e-05	0.0005	0	0.08	0.33585	T	0.049	0.48336	D	0.932	0.51990	P	0.292	0.40739	B	.	.	.	.	0.863501	0.28319	N	1.45	0.36711	L	1.75	0.26152	T	-5.39	0.85027	D	0.114	0.24758	-1.0049	0.28487	T	0.044	0.18742	T	9	0.005428523	0.00120	T	0.001337	0.01910	T	0.035	0.08770	0.577	0.70217	0.317084106153	0.31322	0.010138042777405026	0.00975	0.0195584975394	0.01915	.	.	.	0.062194	0.31851	T	-0.596718	0.00153	T	-0.623523	0.10911	T	0.040026051709193	0.03695	T	0.107789	0.05521	T	0.11730034	0.27655	0.16630776	0.38428	0.11730034	0.27655	0.16630776	0.38427	-5.773	0.44338	T	.	.	0.172	0.38764	B	.;.;.	.;.;.	1.025853	0.14055	10.63	0.90349532116100995	0.19614	0.00277	0.01499	N	AEFDBHCI	0.037801	0.05254	N	-0.498404361498895	0.22133	1.179681	-0.752351643754163	0.15665	0.8249718	0.0170867467141634	0.12910	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	1.2	0.197	0.14443	0.519000	0.22570	.	.	0.284000	0.18682	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.7482:0.0:0.2518	5.068	0.13930	716	0.55970	Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	982.53	39	chr7	64978838	.	C	T	982.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.52;DP=270;ExcessHet=0;FS=1.867;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-1.091;SOR=1.002	GT:AD:DP:GQ:PL	0/1:42,37:79:99:993,0,1073	6	0	1	0
chr7	64992080	64992080	T	G	exonic	ERV3-1	.	nonsynonymous SNV	ERV3-1:NM_001007253:exon2:c.A947C:p.N316T	.	426	1095	0	1	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0037	0.00199681	0.0010	0.0122	0.0005	0	0	0	0.0011	6.073e-05	0.0009314	144	154602	rs138378166	0.0005	0.0005	0.0006	0.0004	0.0118	0.0004	0.0004	0.0104	0.0099	0.0118	0.0007	0	0	0	0.0012	2.572e-05	0.0012	4.298e-05	0.0030	0.0030	0.0031	0.0029	0.0105	0.0028	0.0027	0.0096	0.0093	0.0105	0	0.0010	0	0	0	0.0034	7.35e-05	0.0014	0	0.064	0.36509	T	.	.	.	0.007	0.14184	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.74	0.11730	T	-1.38	0.34198	N	0.278	0.31478	-0.9748	0.36170	T	0.011	0.04321	T	8	0.0029880404	0.00049	T	.	.	.	0.009	0.00846	.	.	0.0138822411134	0.00435	0.144533313826204	0.14376	0.045244591654	0.04904	0.544516205788	0.45084	T	0.00323	0.02636	T	-0.648937	0.00073	T	-0.694541	0.06129	T	0.00168620951778846	0.00017	T	0.389061	0.09624	T	0.06571717	0.14072	0.09113069	0.21408	0.06571717	0.14072	0.09113069	0.21407	-4.353	0.28914	T	.	.	0.202	0.42578	B	.	.	0.260994	0.06395	2.861	0.55670200088386779	0.05390	0.00355	0.01825	N	AEBI	0.028884	0.02626	N	-1.21976019119449	0.04714	0.2133409	-1.30039403089968	0.04426	0.2087303	0.880471116222338	0.25608	0.732398	0.92422	0	0.709663	0.81188	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	0.109	0.109	0.13884	0.204000	0.17133	.	.	0.232000	0.18153	0.111000	0.23011	0.302000	0.24225	0.137000	0.19835	.	.	.	716	0.55970	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003109	0.005051	0.006793	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1807.44	36	chr7	64992080	.	T	G	1807.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.11;DP=383;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=-0.717;SOR=0.694	GT:AD:DP:GQ:PL	0/1:77,68:145:99:1818,0,1833	6	0	1	0
chr7	64992528	64992528	C	G	exonic	ERV3-1	.	nonsynonymous SNV	ERV3-1:NM_001007253:exon2:c.G499C:p.D167H	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00129846394607	0.0002	.	0.0002	0	0.0009	0	0	0.0002	0.0011	0.0003	0.0001746	27	154602	rs71534295	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0004	0.0004	0	0.0004	0.0023	0	0	0.0010	0.0001	0.0002	0.0006	0.0001	0.0001	0.0001	0.0001	0.0010	9.15e-05	7.705e-05	0.0004	0.0003	0	0	0.0002	0.0029	0	0	0	4.411e-05	0	0.0010	0.054	0.38633	T	0.136	0.34009	T	0.433	0.35643	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.62	0.12988	T	-0.27	0.11366	N	0.217	0.24260	-0.9876	0.33200	T	0.013	0.05321	T	8	0.017316371	0.00369	T	0.001298	0.01809	T	0.021	0.04004	.	.	0.0551355673512	0.04727	0.1699094469103624	0.16910	0.21499238779	0.24033	0.557504892349	0.46916	T	0.001239	0.00725	T	-0.506398	0.00526	T	-0.635181	0.10024	T	0.0169124046243842	0.00443	T	0.373163	0.08852	T	0.06505692	0.13865	0.14114854	0.33622	0.06505692	0.13864	0.14114854	0.33621	-4.196	0.26694	T	.	.	0.413	0.60281	A	.	.	0.994735	0.13731	10.27	0.92868615041474833	0.22413	0.01217	0.04320	N	AEFBI	0.043380	0.06850	N	-0.942598590195049	0.09859	0.4685268	-1.02560100122226	0.09224	0.4576887	0.880869361665755	0.25619	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	0.109	0.109	0.13884	0.202000	0.17094	.	.	0.212000	0.17994	0.477000	0.26777	0.704000	0.26251	0.545000	0.30055	.	.	.	716	0.55970	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001036	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	947.44	82	chr7	64992528	.	C	G	947.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.07;DP=562;ExcessHet=0;FS=0.84;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=0.86;SOR=0.733	GT:AD:DP:GQ:PL	0/0:124,0:124:99:0,120,1800	6	0	1	0
chr7	65979471	65979471	C	T	exonic	GUSB	.	nonsynonymous SNV	GUSB:NM_001293104:exon3:c.G82A:p.V28I,GUSB:NM_000181:exon4:c.G652A:p.V218I	Mucopolysaccharidosis VII, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.755	0.505346214334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.024	0.56640	D	0.971	0.57185	D	0.906	0.64351	P	0.000001	0.62929	D	0.056754	1	0.81001	D	2.64	0.77224	M	-4.8	0.98169	D	-0.87	0.23590	N	0.76	0.75834	1.105	0.99806	D	0.963	0.98810	D	10	0.93923116	0.93250	D	0.505346	0.95217	D	0.755	0.91626	0.725	0.85937	0.902544157269	0.90157	0.7902203511487095	0.78974	0.613822498684	0.55932	0.418087184429	0.27574	T	0.587633	0.86593	D	0.261386	0.79659	D	0.137687	0.79396	D	0.892707421474455	0.54383	D	0.918208	0.70605	D	0.7105831	0.78639	0.63345534	0.78609	0.7105831	0.78641	0.63345534	0.78610	-10.811	0.78611	D	0.3691763117535301	0.46487	0.106	0.19800	B	.	.	4.302010	0.65697	24.9	0.99882794197208236	0.95892	0.95773	0.66093	D	AEFDBCI	0.947378	0.95786	D	0.716900392619733	0.80741	7.361744	0.640203165172786	0.77881	6.765916	0.999999999999997	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	7.688000	0.83438	7.525000	0.59824	0.562000	0.28470	1.000000	0.71638	1.000000	0.68203	0.182000	0.21359	0.0:1.0:0.0:0.0	17.961	0.89006	487	0.76954	Glycosyl hydrolases family 2, sugar binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	790.53	52	chr7	65979471	.	C	T	790.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.68;DP=229;ExcessHet=0;FS=1.076;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=1.69;SOR=0.883	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,975	6	0	1	0
chr7	70789938	70789938	G	C	exonic	AUTS2	.	nonsynonymous SNV	AUTS2:NM_001127231:exon18:c.G2650C:p.E884Q,AUTS2:NM_015570:exon19:c.G2722C:p.E908Q	Mental retardation, autosomal dominant 26, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0503403982078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	0.105	0.40267	T	0.99	0.63424	D	0.839	0.60107	P	0.000088	0.51296	D	0.201130	0.999998	0.58761	D	2.005	0.54552	M	1.29	0.36330	T	-1.82	0.43524	N	0.214	0.34120	-0.8681	0.50672	T	0.167	0.50665	T	9	0.31848985	0.49247	T	0.05034	0.64202	D	0.173	0.43840	0.128	0.03331	0.436332547184	0.43250	0.11124570767184054	0.11053	1.19215792285	0.80307	0.707380771637	0.68214	T	0.158243	0.50117	T	-0.0565057	0.43452	T	-0.318943	0.42692	T	0.904888331890106	0.55847	D	0.910209	0.72903	D	0.23327723	0.46130	0.24612068	0.50115	0.23327723	0.46130	0.24612068	0.50114	-4.822	0.35589	T	0.4365778390192418	0.52281	0.224	0.50259	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.600400	0.72850	25.9	0.99803823790116208	0.88817	0.98622	0.84808	D	AEFDBCI	0.917190	0.88445	D	0.629197174576131	0.75027	6.234266	0.610106235117678	0.75672	6.352297	0.999999999913575	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	4.28	4.28	0.50183	9.439000	0.96737	11.833000	0.97585	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.784000	0.37066	0.0:0.0:1.0:0.0	16.940	0.86086	923	0.18507	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1619.44	33	chr7	70789938	.	G	C	1619.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.307;DP=295;ExcessHet=0;FS=0.756;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=-0.969;SOR=0.829	GT:AD:DP:GQ:PL	0/1:39,66:105:99:1630,0,832	6	0	1	0
chr7	72815429	72815429	G	A	exonic	TYW1B	.	nonsynonymous SNV	TYW1B:NM_001145440:exon3:c.C188T:p.A63V	.	431	1089	2	0	0	2	0.000917431	.	.	.	2292335	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	0.00134076604228	.	0.000199681	0.0001	0	0	0	0	0.0002	0	6.057e-05	0.0001423	22	154602	rs551443078	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	3.01e-05	6.877e-05	0	0	0	0.0003	0.0002	0.0002	4.723e-05	0.0001	0.0001	0.0002	9.429e-05	0.0004	8.182e-05	6.735e-05	0.0001	7.902e-05	7.238e-05	0	0.0001	0	0	0	0	0.0002	0	0.0004	.	.	.	0.115	0.36630	T	0.002	0.09854	B	0.026	0.20792	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.26354	.	.	.	.	.	.	.	0.03803104	0.02194	T	0.001341	0.01910	T	.	.	.	.	0.0297737177859	0.01360	0.48243395763032776	0.48163	.	.	0.283754020929	0.08021	T	0.031614	0.22120	T	-0.318143	0.07051	T	-0.398575	0.33550	T	.	.	.	0.762924	0.38892	T	0.060149424	0.12308	0.27255806	0.53168	0.060149424	0.12308	0.27255806	0.53167	-5.269	0.39635	T	.	.	0.130	0.38800	B	.;.;.	.;.;.	1.894163	0.24061	16.25	0.8194710890085759	0.13941	0.09125	0.14943	N	AEFDBI	0.036885	0.04985	N	.	.	.	.	.	.	0.00260488904007435	0.09566	0.106106	0.02776	0	0.105846	0.03286	0	0.083675	0.02720	0	0.092715	0.02821	0	.	.	2.68	-2.03	0.06959	1.125000	0.30946	0.243000	0.16332	0.526000	0.24426	0.034000	0.20669	0.000000	0.08366	0.853000	0.40368	0.2291:0.0:0.1869:0.584	4.557	0.11539	878	0.29785	.;Flavodoxin/nitric oxide synthase|Flavodoxin/nitric oxide synthase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	648.44	33	chr7	72815429	.	G	A	648.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.565;DP=267;ExcessHet=0;FS=4.372;MLEAC=1;MLEAF=0.071;MQ=59.3;MQRankSum=-0.854;QD=8.01;ReadPosRankSum=-0.45;SOR=0.351	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	6	0	1	0
chr7	72928446	72928446	C	G	exonic	POM121	.	nonsynonymous SNV	POM121:NM_172020:exon5:c.C289G:p.P97A,POM121:NM_001257190:exon7:c.C289G:p.P97A,POM121:NM_001367610:exon8:c.C289G:p.P97A	.	422	1097	2	0	1	3	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.0113430842663	.	.	2.471e-05	0	0	0	0	4.495e-05	0	0	1.94e-05	3	154602	rs782717773	8.209e-06	8.209e-06	5.445e-06	1.1e-05	1.079e-05	4.38e-06	3.46e-06	5.75e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.30943	T	0.094	0.48336	T	0.773	0.44016	P	0.454	0.46241	P	0.000916	0.41128	D	0.000000	0.853919	0.35269	D	3.06	0.86941	M	2.6	0.13204	T	-3.55	0.71997	D	0.707	0.71410	-0.9754	0.36037	T	0.076	0.30460	T	10	0.48461992	0.60634	T	0.011343	0.28865	T	0.101	0.28911	0.189	0.09907	0.0716867268079	0.06686	0.2836055586835695	0.28273	.	.	0.708786070347	0.68418	T	0.141326	0.47634	T	-0.199219	0.20917	T	-0.39349	0.34142	T	0.632642686367035	0.37728	D	0.779122	0.44782	T	0.11956952	0.28152	0.12560014	0.30259	0.11956952	0.28152	0.12560014	0.30259	-7.38	0.57779	T	.	.	0.162	0.38190	B	.;.;.;.;.	.;.;.;.;.	3.832571	0.55413	23.6	0.98625080283263178	0.43825	0.91544	0.53752	D	AEFDBHCI	0.428603	0.49206	N	0.296174053694605	0.55955	3.759598	0.237252460479787	0.51927	3.371197	0.99966678965058	0.41534	0.712529	0.81865	0	0.702456	0.74545	0	0.702456	0.68683	0	0.691587	0.68394	0	.	.	4.0	3.1	0.34780	5.627000	0.67460	4.906000	0.45906	0.328000	0.19510	1.000000	0.71638	1.000000	0.68203	0.466000	0.28252	0.1959:0.8041:0.0:0.0	10.406	0.43442	424	0.81215	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1780.44	35	chr7	72928446	.	C	G	1780.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.36;DP=318;ExcessHet=0;FS=1.475;MLEAC=1;MLEAF=0.071;MQ=59.93;MQRankSum=1.29;QD=14.71;ReadPosRankSum=0.302;SOR=0.562	GT:AD:DP:GQ:PL	0/1:46,75:121:99:1791,0,1007	6	0	1	0
chr7	72930061	72930061	A	G	exonic	POM121	.	nonsynonymous SNV	POM121:NM_172020:exon6:c.A430G:p.S144G,POM121:NM_001257190:exon8:c.A430G:p.S144G,POM121:NM_001367610:exon9:c.A430G:p.S144G	.	.	.	.	.	.	.	.	.	.	.	3369692	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.00627789589754	.	.	3.296e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs781870184	2.258e-05	2.257e-05	9.53e-06	3.576e-05	0.0004	1.61e-05	1.417e-05	0.0003	0.0002	0	0	0	0	0	0.0002	0	1.656e-05	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.26740	T	0.107	0.54934	T	0.947	0.53479	P	0.674	0.53247	P	0.029790	0.25403	N	0.282075	0.999848	0.20103	N	1.29	0.32370	L	2.71	0.12055	T	-2.27	0.52289	N	0.22	0.25253	-1.0944	0.04839	T	0.063	0.26208	T	10	0.116524935	0.21982	T	0.006278	0.16493	T	0.067	0.19503	0.137	0.04097	0.0666544352282	0.05500	0.13079421439181618	0.13004	.	.	0.448729813099	0.31771	T	0.020297	0.16009	T	-0.49183	0.00635	T	-0.643932	0.09385	T	0.360906213521957	0.27445	T	0.590441	0.49863	T	0.08486098	0.19661	0.08259373	0.18862	0.08486098	0.19661	0.08259373	0.18861	-7.237	0.56017	T	.	.	0.108	0.20391	B	.;.;.;.;.	.;.;.;.;.	3.089071	0.41587	21.4	0.99194947195068273	0.55083	0.63993	0.32264	D	AEFDBCI	0.135488	0.25584	N	0.327864016457068	0.57581	3.926188	0.274751713692664	0.54069	3.57311	0.735760743756117	0.23128	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.1	4.1	0.47196	1.639000	0.36791	9.299000	0.79858	0.407000	0.20612	0.999000	0.42656	1.000000	0.68203	0.758000	0.36073	0.8108:0.1892:0.0:0.0	8.810	0.34124	427	0.81056	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000596	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004274	0.07143	2937.44	42	chr7	72930061	.	A	G	2937.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.451;DP=462;ExcessHet=0;FS=4.985;MLEAC=1;MLEAF=0.071;MQ=54.73;MQRankSum=-2.134;QD=11.52;ReadPosRankSum=-1.846;SOR=0.711	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1131	6	0	1	0
chr7	73669585	73669585	G	A	exonic	VPS37D	.	nonsynonymous SNV	VPS37D:NM_001077621:exon2:c.G305A:p.R102Q	.	418	1096	8	0	0	8	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.0946166080682	0.0005	0.00139776	0.0015	0.0003	0	0	0.0014	0.0007	0	0.0044	0.0006856	106	154602	rs199826922	0.0006	0.0006	0.0005	0.0007	0.0040	0.0005	0.0005	0.0036	0.0035	0.0002	7.277e-05	0	0	0.0004	0.0010	0.0004	0.0005	0.0040	0.0004	0.0004	0.0003	0.0006	0.0031	0.0004	0.0003	0.0019	0.0015	0.0002	0	0.0003	0	0	0.0002	0	0.0006	0	0.0031	0.102	0.30235	T	0.031	0.53788	D	0.799	0.44910	P	0.441	0.45749	B	0.008654	0.30737	U	0.149808	1	0.81001	D	-0.61	0.02200	N	-0.96	0.75553	T	-1.19	0.30346	N	0.238	0.26837	-0.6698	0.61838	T	0.236	0.60258	T	10	0.006719023	0.00152	T	0.094617	0.76284	D	0.248	0.55615	.	.	0.165150595986	0.16160	0.29140335186427996	0.29053	1.03437999137	0.75531	0.509885787964	0.40206	T	0.03005	0.21393	T	-0.387995	0.02771	T	-0.330943	0.41364	T	0.0162758579397898	0.00399	T	0.763224	0.38939	T	0.08971955	0.20972	0.07278351	0.15741	0.08971955	0.20972	0.07278351	0.15740	-4.513	0.31058	T	.	.	0.078	0.06942	B	.	.	4.776343	0.77372	26.7	0.99609999726055509	0.74753	0.83417	0.42536	D	AEFDBI	0.339170	0.43640	N	0.0332306206420093	0.43373	2.63141	0.0575327559622097	0.42436	2.566771	0.99991337410989	0.45857	0.646311	0.45356	0	0.588066	0.40923	0	0.596874	0.31795	0	0.699875	0.68795	0	.	.	4.6	3.72	0.41857	2.785000	0.47470	9.820000	0.81798	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.909000	0.44452	0.1088:0.0:0.8912:0.0	8.360	0.31512	878	0.29785	Modifier of rudimentary, Modr|Modifier of rudimentary, Modr	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001524	0.000000	0.000000	0.002924	0.000000	0.000000	0.003067	0.003788	0.07143	240.83	11	chr7	73669585	.	G	A	240.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.861;DP=137;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=0.545;SOR=0.722	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,635	6	0	1	0
chr7	73834825	73834825	G	A	exonic	METTL27	.	nonsynonymous SNV	METTL27:NM_152559:exon6:c.C656T:p.P219L	.	409	1096	16	1	0	18	0.0081448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0124194452689	0.0015	0.000199681	0.0017	0.0002	0.0008	0.0001	0.0009	0.0026	0.0045	0.0012	0.0015847	245	154602	rs141298816	0.0015	0.0015	0.0015	0.0014	0.0113	0.0014	0.0014	0.0091	0.0083	0.0006	0.0010	0.0092	5.038e-05	0.0003	0.0113	0.0014	0.0027	0.0010	0.0011	0.0011	0.0012	0.0009	0.0013	0.0009	0.0009	0.0010	0.0010	0.0002	0	0.0013	0.0095	0	0.0002	0.0068	0.0013	0.0019	0.0010	0.898	0.02436	T	1.0	0.01155	T	0.007	0.14184	B	0.002	0.06944	B	0.031227	0.01733	N	2.414770	1	0.08975	N	.	.	.	0.35	0.58029	T	0.93	0.01551	N	0.033	0.00882	-1.0776	0.07821	T	0.070	0.28412	T	10	0.0039233267	0.00075	T	0.012419	0.30977	T	0.019	0.03383	.	.	0.0611884634855	0.05136	0.4536783851468046	0.45285	0.12256426211	0.13811	0.331509172916	0.15162	T	4.8E-4	0.00176	T	-0.638452	0.00085	T	-0.703098	0.05659	T	0.00296961541242298	0.00031	T	0.278472	0.04815	T	0.022284659	0.00881	0.02799418	0.00997	0.022284659	0.00880	0.02799418	0.00996	-4.004	0.23864	T	.	.	0.074	0.05060	B	.	.	-0.813875	0.01079	0.048	0.84198002121136706	0.15153	0.00981	0.03737	N	AEFDBHI	0.050429	0.08812	N	-1.58592246858239	0.01336	0.05821189	-1.67700321658116	0.01242	0.05598409	0.999971115554335	0.50053	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.76	-6.87	0.01511	-2.497000	0.01046	-1.303000	0.05769	-1.731000	0.00715	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4394:0.2366:0.2045:0.1194	1.813	0.02907	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018127	0.000000	0.023098	0.023392	0.000000	0.034483	0.024390	0.007576	0.07143	1381.44	34	chr7	73834825	.	G	A	1381.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.44;DP=329;ExcessHet=0;FS=2.218;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=-0.408;SOR=0.893	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,58:133:99:0|1:73834825_G_A:1392,0,2892:73834825	6	0	1	0
chr7	74065720	74065720	G	A	exonic	ELN	.	nonsynonymous SNV	ELN:NM_001278913:exon26:c.G1777A:p.A593T,ELN:NM_001278918:exon26:c.G1753A:p.A585T,ELN:NM_001278916:exon27:c.G1876A:p.A626T,ELN:NM_001081752:exon28:c.G1933A:p.A645T,ELN:NM_001278914:exon28:c.G1948A:p.A650T,ELN:NM_001081753:exon29:c.G1978A:p.A660T,ELN:NM_001081755:exon29:c.G1963A:p.A655T,ELN:NM_001278917:exon29:c.G1990A:p.A664T,ELN:NM_000501:exon30:c.G2020A:p.A674T,ELN:NM_001081754:exon30:c.G2035A:p.A679T,ELN:NM_001278912:exon30:c.G2020A:p.A674T,ELN:NM_001278915:exon30:c.G2038A:p.A680T,ELN:NM_001278939:exon31:c.G2206A:p.A736T	Cutis laxa, AD, Autosomal dominant;Supravalvar aortic stenosis, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	1007613	Supravalvar_aortic_stenosis|ELN-related_disorder	Human_Phenotype_Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500,Orphanet:3193|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.127	0.388863386305	.	.	4.121e-05	0	0	0	0	7.498e-05	0	0	3.23e-05	5	154602	rs782535492	3.352e-05	3.352e-05	3.131e-05	3.575e-05	0.0024	2.566e-05	2.312e-05	0.0015	0.0012	0	0	0	0	0	0.0024	2.788e-05	6.623e-05	0	2.631e-05	2.627e-05	0	5.386e-05	2.941e-05	8.15e-06	5.15e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.941e-05	0.0005	0	0.0	0.91255	D	0.039	0.62352	D	0.996	0.68779	D	0.99	0.78936	D	.	.	.	.	0.601481	0.34033	D	1.845	0.48678	L	1.22	0.47815	T	-1.26	0.36787	N	0.305	0.59816	-0.6417	0.63073	T	0.224	0.58869	T	8	0.29724443	0.47286	T	0.388863	0.93142	D	0.127	0.34888	0.21	0.12781	0.710848232195	0.70832	0.42078190391326803	0.41994	0.176122680716	0.19825	0.700938165188	0.67278	T	0.123085	0.69911	T	-0.0255269	0.48061	T	-0.166787	0.57738	T	0.671100080013275	0.39387	D	0.478452	0.14445	T	0.09440112	0.22193	0.3509199	0.60694	0.09440112	0.22193	0.3509199	0.60693	-11.485	0.84881	D	.	.	0.562	0.70040	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.500295	0.70384	25.5	0.98267278045501005	0.39722	0.81205	0.40658	D	AEFDBHCI	0.589600	0.58642	D	0.270334993267994	0.54652	3.630231	0.175956416161535	0.48533	3.067967	0.988253700005989	0.31455	0.0	0.00013	3	0.547309	0.14657	0	0.584781	0.30282	0	0.613276	0.41899	0	.	.	3.43	3.43	0.38372	4.704000	0.61519	10.954000	0.84418	0.612000	0.49041	1.000000	0.71638	1.000000	0.68203	0.511000	0.29267	0.0:0.0:1.0:0.0	10.708	0.45166	900	0.24599	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	169.44	42	chr7	74065720	.	G	A	169.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.07;DP=242;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=-0.263;SOR=0.446	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1218	6	0	1	0
chr7	74338861	74338861	C	T	exonic	CLIP2	.	nonsynonymous SNV	CLIP2:NM_003388:exon3:c.C535T:p.P179S,CLIP2:NM_032421:exon3:c.C535T:p.P179S	.	430	1063	26	3	0	32	0.0148285	.	.	.	700213	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.143	.	0.0032	0.00459265	0.0046	0.0012	0.0027	0.0002	0.0003	0.0049	0.0108	0.0099	0.0043014	665	154602	rs61739991	0.0042	0.0042	0.0039	0.0046	0.0123	0.0041	0.0041	0.0100	0.0094	0.0005	0.0032	0.0044	0.0005	0.0004	0.0123	0.0041	0.0050	0.0102	0.0032	0.0032	0.0032	0.0031	0.0116	0.0029	0.0029	0.0092	0.0083	0.0010	0	0.0030	0.0049	0.0006	0.0003	0.0136	0.0045	0.0038	0.0116	0.07	0.35349	T	0.055	0.52060	T	0.007	0.14184	B	0.016	0.17743	B	0.000404	0.44736	D	0.150290	0.999984	0.54805	D	0.695	0.17993	N	-0.74	0.73205	T	-1.74	0.41239	N	0.344	0.40565	-0.8381	0.52773	T	0.210	0.56946	T	10	0.0058303773	0.00130	T	.	.	.	0.143	0.38195	.	.	0.434057395736	0.43027	0.6033479092388576	0.60265	0.7593053508	0.64165	0.618176221848	0.55472	T	0.100807	0.40697	T	-0.41675	0.01795	T	-0.363447	0.37653	T	0.0227129971421767	0.00990	T	0.79822	0.44736	T	0.066992566	0.14466	0.09611729	0.22824	0.066992566	0.14465	0.09611729	0.22824	-1.478	0.01783	T	.	.	0.073	0.10208	B	.;.;.	.;.;.	3.079231	0.41422	21.4	0.99525916157939909	0.69530	0.98437	0.82768	D	AEFDBCIJ	0.799496	0.72574	D	-0.276975217780625	0.30041	1.67133	-0.0949209573397272	0.35600	2.061546	0.999999999999923	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.92	4.92	0.64147	4.702000	0.61504	4.757000	0.44693	0.596000	0.33519	0.998000	0.41325	1.000000	0.68203	0.391000	0.26581	0.0:1.0:0.0:0.0	16.914	0.86014	911	0.21964	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.000000	0.012228	0.000000	0.000000	0.060345	0.003049	0.011364	0.07143	1975.44	54	chr7	74338861	.	C	T	1975.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.651;DP=483;ExcessHet=0;FS=1.838;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=0.536;SOR=0.556	GT:AD:DP:GQ:PL	0/0:79,0:79:99:0,120,1800	6	0	1	0
chr7	74376703	74376703	C	T	exonic	CLIP2	.	nonsynonymous SNV	CLIP2:NM_032421:exon9:c.C2197T:p.R733W,CLIP2:NM_003388:exon10:c.C2302T:p.R768W	.	.	.	.	.	.	.	.	.	.	.	722639	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.071	.	0.0051	0.00439297	0.0015	0.0159	0.0007	0	0	5.063e-05	0	6.871e-05	0.0011449	177	154602	rs75721312	0.0003	0.0003	0.0003	0.0003	0.0116	0.0003	0.0003	0.0107	0.0103	0.0116	0.0007	0	0	3.755e-05	0.0014	1.169e-05	0.0007	3.492e-05	0.0034	0.0034	0.0035	0.0033	0.0123	0.0032	0.0031	0.0114	0.0110	0.0123	0	0.0006	0	0	0	0	2.941e-05	0.0005	0.0002	0.005	0.63226	D	0.015	0.63918	D	0.61	0.39628	P	0.235	0.38432	B	0.594827	0.05612	N	1.311950	0.999182	0.22091	N	0.69	0.16971	N	0.27	0.59176	T	-1.39	0.36385	N	0.271	0.33687	-0.9914	0.32244	T	0.074	0.29802	T	10	0.005116284	0.00111	T	.	.	.	0.071	0.20720	.	.	0.204265027416	0.20035	0.2208158935805304	0.21996	0.341448690229	0.36074	0.409976750612	0.26454	T	0.157914	0.50073	T	-0.529807	0.00385	T	-0.522776	0.20014	T	0.0215977035219834	0.00864	T	0.972003	0.90829	D	0.051048208	0.09317	0.057409152	0.10430	0.051048208	0.09317	0.057409152	0.10430	-7.723	0.59167	D	.	.	0.103	0.18289	B	.;.;.	.;.;.	3.144264	0.42536	21.6	0.99696612381171124	0.80316	0.27175	0.23203	N	AEFDBHCI	0.343921	0.43958	N	-0.45861880110541	0.23449	1.259297	-0.403332822465343	0.24899	1.366115	6.65043260620787E-4	0.07575	0.706548	0.73137	0	0.697927	0.68747	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.8	0.402	0.15565	0.701000	0.25293	0.028000	0.13690	-0.176000	0.10722	0.397000	0.26145	0.033000	0.21346	0.849000	0.40138	0.3295:0.2083:0.4622:0.0	7.925	0.29034	917	0.20147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000505	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1447.44	34	chr7	74376703	.	C	T	1447.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.416;DP=316;ExcessHet=0;FS=0.659;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=0.183;SOR=0.6	GT:AD:DP:GQ:PL	0/1:62,65:127:99:1458,0,1324	6	0	1	0
chr7	74519546	74519550	CCACC	-	exonic	GTF2IRD1	.	frameshift deletion	GTF2IRD1:NM_001199207:exon6:c.839_843del:p.A280Vfs*84,GTF2IRD1:NM_005685:exon6:c.743_747del:p.A248Vfs*84,GTF2IRD1:NM_016328:exon6:c.743_747del:p.A248Vfs*84	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	187.45	35	chr7	74519545	.	GCCACC	G	187.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.233;DP=280;ExcessHet=0;FS=39.195;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.95;ReadPosRankSum=2.31;SOR=5.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1092:.	6	0	1	0
chr7	74519550	74519550	-	TTGGG	exonic	GTF2IRD1	.	frameshift insertion	GTF2IRD1:NM_001199207:exon6:c.843_844insTTGGG:p.S282Lfs*39,GTF2IRD1:NM_005685:exon6:c.747_748insTTGGG:p.S250Lfs*39,GTF2IRD1:NM_016328:exon6:c.747_748insTTGGG:p.S250Lfs*39	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	187.59	45	chr7	74519550	.	C	CTTGGG	187.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.625;DP=333;ExcessHet=0;FS=39.195;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.95;ReadPosRankSum=2.11;SOR=5.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1092:.	6	0	1	0
chr7	75058742	75058742	G	A	exonic	RCC1L	.	nonsynonymous SNV	RCC1L:NM_001281441:exon7:c.C815T:p.S272L,RCC1L:NM_001363447:exon7:c.C416T:p.S139L,RCC1L:NM_030798:exon7:c.C815T:p.S272L,RCC1L:NM_148842:exon7:c.C815T:p.S272L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.00449328993548	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1336706871	8.21e-06	8.209e-06	8.169e-06	8.252e-06	8.963e-05	4.38e-06	3.46e-06	2.375e-05	1.258e-05	8.963e-05	2.236e-05	0	0	0	0	6.296e-06	1.656e-05	0	2.629e-05	2.627e-05	3.854e-05	1.345e-05	4.825e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	0.403	0.19539	T	.	.	.	.	.	.	0.007943	0.01187	N	2.657570	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.127	0.12484	-0.8025	0.54997	T	0.249	0.61901	T	10	0.048581243	0.04327	T	0.004493	0.11031	T	.	.	0.43	0.47843	0.0986583533028	0.09354	0.22710027761579216	0.22625	.	.	0.338433593512	0.16203	T	.	.	.	-0.246591	0.14520	T	-0.591988	0.13495	T	0.106341518461704	0.13041	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.02118	B	.;.;.	.;.;.	-0.643521	0.01456	0.089	0.66896654958178192	0.08193	0.01676	0.05356	N	AEFI	0.115773	0.22749	N	-1.53500525050426	0.01624	0.07100439	-1.60877482615573	0.01603	0.07270407	0.00167518515274658	0.08770	0.706298	0.61202	0	0.659464	0.62310	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	4.14	-6.75	0.01575	-0.685000	0.05269	-3.898000	0.02465	-0.734000	0.03706	0.000000	0.06391	0.000000	0.08366	0.044000	0.14658	0.6902:0.0:0.1936:0.1161	8.752	0.33783	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	621.49	54	chr7	75058742	.	G	A	621.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.51;DP=230;ExcessHet=0;FS=3.9;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.392;SOR=1.329	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1180	6	0	1	0
chr7	75404941	75404942	CA	-	exonic	TRIM73;TRIM74	.	frameshift deletion	TRIM74:NM_001317815:exon4:c.598_599del:p.T201Pfs*34,TRIM74:NM_198853:exon4:c.598_599del:p.T201Pfs*34,TRIM73:NM_198924:exon4:c.598_599del:p.T201Pfs*34	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0003	0	0	1.29e-05	2	154602	rs1286466349	1.374e-05	1.368e-05	1.366e-05	1.382e-05	0.0002	8.97e-06	7.29e-06	3.782e-05	2.673e-05	0	0	0	0	0	0.0002	9.018e-06	3.337e-05	8.157e-05	1.508e-05	1.337e-05	2.896e-05	0	3.265e-05	2.51e-06	9.4e-07	5.42e-06	2.03e-06	0	0	0	0	0	0	0	3.265e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1981.4	33	chr7	75404940	.	TCA	T	1981.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.898;DP=283;ExcessHet=0;FS=3.182;MLEAC=1;MLEAF=0.071;MQ=33.92;MQRankSum=2.86;QD=21.54;ReadPosRankSum=-0.732;SOR=1.165	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1243	6	0	1	0
chr7	75422100	75422100	C	T	exonic	POM121C	.	nonsynonymous SNV	POM121C:NM_001099415:exon13:c.G2152A:p.A718T	.	.	.	.	.	.	.	.	.	.	.	2379713	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.023	0.0105048680564	0.0002	.	5.094e-05	0.0005	0	0	0	0	0	0.0001	4.53e-05	7	154602	rs369177631	2.411e-05	3.352e-05	2.189e-05	2.636e-05	0.0008	1.751e-05	1.549e-05	0.0003	0.0002	0.0004	0.0001	3.877e-05	0	0	0.0008	5.428e-06	5.014e-05	1.166e-05	9.198e-05	9.193e-05	0.0001	5.38e-05	0.0003	5.527e-05	4.364e-05	0.0001	0.0001	0.0003	0	6.542e-05	0	0	0	0	2.941e-05	0	0	.	.	.	0.372	0.16376	T	0.179	0.28995	B	0.024	0.20255	B	0.336064	0.14037	N	0.581381	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.069	0.04188	-0.9507	0.40851	T	0.015	0.06090	T	10	0.02793479	0.00931	T	0.010505	0.27109	T	.	.	.	.	0.0297737177859	0.01360	0.04262165462669714	0.04207	.	.	0.467867285013	0.34387	T	9.35E-4	0.00486	T	-0.305098	0.08187	T	-0.676028	0.07228	T	0.0123046226799488	0.00199	T	0.623338	0.24021	T	0.015357343	0.00135	0.060860854	0.11661	0.015357343	0.00135	0.060860854	0.11660	-4.446	0.30176	T	.	.	0.065	0.01834	B	.;.	.;.	-0.707168	0.01304	0.070	0.7275348431114973	0.10083	0.00130	0.00805	N	AEFBI	0.023318	0.01283	N	-1.55285467023272	0.01518	0.06628711	-1.62536255563305	0.01508	0.06828881	6.91607370028338E-5	0.04366	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	2.99	-3.97	0.03821	-0.203000	0.09440	-1.253000	0.05900	-1.209000	0.01353	0.058000	0.21700	0.000000	0.08366	0.004000	0.06068	0.0:0.2224:0.0:0.7776	9.046	0.35507	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002096	0.005376	0.000000	0.003378	0.000000	0.000000	0.003185	0.007752	0.08333	316.27	35	chr7	75422100	.	C	T	316.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.98;DP=253;ExcessHet=0;FS=1.391;MLEAC=1;MLEAF=0.083;MQ=53.92;MQRankSum=-0.083;QD=9.04;ReadPosRankSum=-0.975;SOR=0.446	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	5	0	1	1
chr7	75440980	75440980	G	C	exonic	POM121C	.	nonsynonymous SNV	POM121C:NM_001099415:exon5:c.C201G:p.F67L	.	426	1091	5	0	0	5	0.00228624	.	.	.	2338727	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	0.00160034460987	0.0008	0.000399361	0.0010	9.612e-05	8.637e-05	0	0.0006	0.0014	0	0.0010	0.0003458	9	26028	rs201581797	0.0007	0.0007	0.0007	0.0008	0.0023	0.0007	0.0007	0.0013	0.0011	0	6.709e-05	0.0010	5.038e-05	0.0003	0.0023	0.0008	0.0005	0.0011	0.0008	0.0008	0.0010	0.0006	0.0015	0.0007	0.0006	0.0013	0.0012	2.406e-05	0	0.0003	0.0006	0	0.0004	0	0.0015	0	0.0006	.	.	.	0.657	0.08134	T	0.022	0.18677	B	0.015	0.17295	B	0.964401	0.07738	N	1.022090	1	0.08975	N	1.245	0.31408	L	.	.	.	.	.	.	0.194	0.25989	-1.0194	0.23910	T	0.022	0.09421	T	10	0.0076721013	0.00174	T	0.002	0.02574	T	.	.	0.279	0.23323	0.0297737177859	0.01360	0.11341304815981385	0.11269	.	.	0.486728549004	0.36985	T	0.016277	0.13483	T	-0.438505	0.01320	T	-0.443192	0.28451	T	0.0120436892255986	0.00190	T	0.608539	0.23687	T	0.10604403	0.25075	0.11791089	0.28463	0.10604403	0.25075	0.11791089	0.28463	-2.071	0.03461	T	.	.	0.362	0.63904	A	.;.	.;.	-0.788438	0.01130	0.052	0.65039823250916484	0.07661	0.05330	0.11183	N	AEFBI	0.055768	0.10256	N	-1.41036187583676	0.02547	0.1126107	-1.55616114730127	0.01934	0.08824471	0.999999187971935	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.27	-7.33	0.01284	-1.188000	0.03173	-0.619000	0.08183	-0.147000	0.12262	0.000000	0.06391	0.000000	0.08366	0.562000	0.30459	0.313:0.0:0.687:0.0	14.739	0.69054	912	0.21483	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001773	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1603.63	33	chr7	75440980	.	G	C	1603.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.076;DP=298;ExcessHet=0;FS=2.426;MLEAC=1;MLEAF=0.071;MQ=47.17;MQRankSum=-2.777;QD=13.94;ReadPosRankSum=1.15;SOR=0.938	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1289	6	0	1	0
chr7	75554511	75554511	G	A	exonic	HIP1	.	nonsynonymous SNV	HIP1:NM_001243198:exon20:c.C1979T:p.T660M,HIP1:NM_001382444:exon20:c.C1877T:p.T626M,HIP1:NM_001382445:exon20:c.C1892T:p.T631M,HIP1:NM_005338:exon20:c.C1979T:p.T660M	.	1	1515	6	0	0	6	0.00197628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.0153552294186	7.7e-05	.	0.0003	0	0	0.0005	0	0.0002	0	0.0009	0.0002199	34	154602	rs200918019	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0009	0	2.236e-05	0	0.0004	0	0.0021	0.0002	0.0002	0.0010	0.0001	0.0001	0.0002	9.416e-05	0.0006	8.17e-05	6.726e-05	0.0002	9.896e-05	0	0	0.0001	0	0	0	0	0.0002	0	0.0006	0.025	0.47320	D	0.038	0.55759	D	0.208	0.29916	B	0.111	0.31539	B	0.243850	0.15653	N	0.678176	1	0.08975	N	1.1	0.28011	L	2.82	0.13095	T	-0.1	0.08495	N	0.173	0.23125	-1.0167	0.24787	T	0.015	0.06090	T	10	0.022976846	0.00588	T	0.015355	0.36047	T	0.032	0.07718	.	.	0.117191471859	0.11215	0.37539357960771996	0.37453	0.358169936136	0.37530	0.272308409214	0.06444	T	0.081318	0.36568	T	-0.60718	0.00132	T	-0.701297	0.05755	T	0.0279538958731251	0.01681	T	0.90401	0.66975	D	0.017013725	0.00239	0.0312181	0.01680	0.017013725	0.00239	0.0312181	0.01680	-5.229	0.40591	T	.	.	0.072	0.11893	B	.;.;.	.;.;.	1.982121	0.25182	16.67	0.96958864639654396	0.31771	0.07750	0.13750	N	AEFDBI	0.065269	0.12721	N	-0.87596498889861	0.11416	0.5508061	-0.951658870993519	0.10884	0.5511062	0.972602077563428	0.29385	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.51	-2.96	0.05212	0.391000	0.20511	1.993000	0.30087	0.675000	0.71128	0.228000	0.24622	0.992000	0.31684	0.122000	0.19250	0.1114:0.2384:0.4591:0.1911	3.151	0.06098	856	0.34373	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	994.46	35	chr7	75554511	.	G	A	994.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.896;DP=259;ExcessHet=0;FS=3.295;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=-0.037;SOR=0.485	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	6	0	1	0
chr7	75888171	75888171	T	C	exonic	RHBDD2	.	nonsynonymous SNV	RHBDD2:NM_001346188:exon3:c.T509C:p.V170A,RHBDD2:NM_001346189:exon3:c.T473C:p.V158A,RHBDD2:NM_001040456:exon4:c.T917C:p.V306A,RHBDD2:NM_001346187:exon4:c.T494C:p.V165A,RHBDD2:NM_001040457:exon5:c.T494C:p.V165A,RHBDD2:NM_001346186:exon6:c.T494C:p.V165A	.	8	1485	29	0	0	29	0.00966989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0182421806745	0.0035	0.00219649	0.0041	0.0007	0.0016	0	0.0017	0.0044	0.0034	0.0097	0.0039586	612	154602	rs201365073	0.0046	0.0046	0.0043	0.0048	0.0099	0.0045	0.0044	0.0093	0.0091	0.0007	0.0025	0.0089	0	0.0013	0.0064	0.0046	0.0044	0.0099	0.0031	0.0031	0.0031	0.0030	0.0079	0.0028	0.0028	0.0059	0.0052	0.0007	0	0.0035	0.0078	0.0002	0.0026	0.0103	0.0042	0.0028	0.0079	0.005	0.63226	D	0.092	0.44501	T	0.068	0.23728	B	0.021	0.19346	B	0.014936	0.28389	N	0.260739	0.895229	0.29212	N	2.125	0.59049	M	1.2	0.37405	T	-0.02	0.34596	N	0.137	0.13484	-1.0982	0.04315	T	0.034	0.14726	T	10	0.0041790903	0.00083	T	0.018242	0.40237	T	0.072	0.21020	.	.	0.134007934775	0.12933	0.37631953019399833	0.37545	0.777774367674	0.65122	0.638800263405	0.58393	T	0.031619	0.22125	T	-0.495124	0.00609	T	-0.476026	0.24869	T	0.0108195274545807	0.00154	T	0.680532	0.28920	T	0.040389422	0.05755	0.058214545	0.10720	0.040389422	0.05754	0.058214545	0.10720	-2.568	0.06264	T	.	.	0.478	0.64759	A	.;.;.	.;.;.	3.055605	0.41018	21.3	0.99669612393513707	0.78523	0.18119	0.20127	N	AEFDBCI	0.112411	0.22219	N	-0.50527461926774	0.21909	1.166165	-0.408494840066542	0.24747	1.356952	0.998002612284946	0.36301	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.1	3.89	0.44098	0.925000	0.28392	4.985000	0.46489	0.651000	0.53179	0.007000	0.17678	1.000000	0.68203	0.731000	0.35132	0.0:0.0999:0.1932:0.7069	4.790	0.12614	706	0.57215	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.006793	0.017544	0.000000	0.008621	0.009146	0.000000	0.07143	1327.53	36	chr7	75888171	.	T	C	1327.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.349;DP=294;ExcessHet=0;FS=0.719;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.028;SOR=0.785	GT:AD:DP:GQ:PL	0/1:51,56:107:99:1338,0,1264	6	0	1	0
chr7	76425072	76425072	G	C	exonic	ZP3	.	nonsynonymous SNV	ZP3:NM_001110354:exon1:c.G108C:p.E36D	.	425	1086	11	0	0	11	0.00503894	.	.	.	711134	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.017	0.00335181593025	0.0016	0.00139776	0.0013	0.0005	0.0017	0	0.0004	0.0017	0.0013	0.0006	0.0012354	191	154602	rs117869702	0.0016	0.0016	0.0016	0.0016	0.0021	0.0016	0.0015	0.0018	0.0018	0.0003	0.0017	0.0005	0	7.544e-05	0.0021	0.0019	0.0018	0.0005	0.0013	0.0013	0.0015	0.0010	0.0020	0.0011	0.0011	0.0017	0.0016	0.0004	0	0.0016	0.0003	0	0	0.0102	0.0020	0.0038	0.0008	0.61	0.05468	T	0.621	0.07419	T	0.167	0.28604	B	0.034	0.22546	B	0.002961	0.00929	U	7.702890	1	0.08975	N	0.345	0.11182	N	2.72	0.11947	T	-0.49	0.15578	N	0.08	0.05542	-1.0213	0.23292	T	0.019	0.07800	T	10	0.004142314	0.00082	T	0.003352	0.07482	T	0.017	0.02790	0.153	0.05648	0.0611884634855	0.05136	0.4025409431445491	0.40170	0.0176017942392	0.01715	0.274346292019	0.06716	T	0.061335	0.31628	T	-0.66491	0.00059	T	-0.733732	0.04160	T	0.00190448069181004	0.00019	T	0.359864	0.08266	T	0.049374644	0.08756	0.03341613	0.02234	0.04887953	0.08589	0.032626167	0.02028	-3.764	0.20268	T	.	.	0.083	0.09385	B	.	.	-0.423906	0.02125	0.202	0.62438009528254401	0.06963	0.05858	0.11803	N	AEFBCI	0.048443	0.08267	N	-1.08615346019405	0.06898	0.3188539	-1.10636979695201	0.07577	0.3691468	0.915779740681297	0.26493	0.608966	0.35542	0	0.681609	0.65952	0	0.608075	0.38828	0	0.586402	0.36253	0	.	.	4.74	0.538	0.16342	-0.129000	0.10493	-0.202000	0.10935	-0.174000	0.10959	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2649:0.0:0.4272:0.3078	3.311	0.06605	867	0.32089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.000000	0.006793	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	1192.49	34	chr7	76425072	.	G	C	1192.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.57;DP=319;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=1.19;SOR=0.721	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1094	6	0	1	0
chr7	76433481	76433481	G	A	exonic	ZP3	.	nonsynonymous SNV	ZP3:NM_001110354:exon4:c.G547A:p.A183T,ZP3:NM_007155:exon5:c.G394A:p.A132T	.	435	1083	4	0	0	4	0.00184332	.	.	.	700230	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.172	.	0.0039	0.00658946	0.0073	0.0009	0.0204	0	0.0064	0.0081	0.0046	0.0033	0.0076066	1176	154602	rs74676082	0.0060	0.0060	0.0062	0.0058	0.0282	0.0059	0.0059	0.0269	0.0264	0.0012	0.0282	0.0184	2.519e-05	0.0085	0.0007	0.0054	0.0056	0.0026	0.0089	0.0089	0.0080	0.0099	0.0426	0.0085	0.0084	0.0399	0.0388	0.0013	0.0362	0.0426	0.0187	0	0.0074	0	0.0066	0.0066	0.0033	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.003	0.08700	B	0.950871	0.07655	N	1.021960	1	0.08975	N	-0.435	0.02851	N	-1.47	0.81067	T	0.73	0.02368	N	0.074	0.04790	-1.0251	0.22050	T	0.056	0.23715	T	10	0.002967745	0.00048	T	.	.	.	0.172	0.43662	.	.	0.238705975628	0.23479	0.4291684088172849	0.42833	0.0147752663193	0.01401	0.224459990859	0.01583	T	0.088422	0.38154	T	-0.482586	0.00714	T	-0.445706	0.28172	T	0.00304775342549733	0.00032	T	0.648535	0.25952	T	0.0216817	0.00783	0.0378954	0.03540	0.027935153	0.02056	0.0378954	0.03540	-4.201	0.26766	T	0.08971481169315887	0.05512	0.066	0.03625	B	.;.;.	.;.;.	-1.245718	0.00487	0.011	0.21507353066344989	0.00822	0.00953	0.03666	N	AEFBI	0.028198	0.02440	N	-2.09854880273033	0.00129	0.005528065	-2.17464952740976	0.00127	0.005604068	0.999999981887582	0.74766	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.567892	0.33627	0	.	.	5.4	-10.8	0.00171	-2.481000	0.01058	-3.382000	0.02829	-1.373000	0.01168	0.000000	0.06391	0.000000	0.08366	0.333000	0.25271	0.5092:0.0732:0.1109:0.3067	3.818	0.08339	886	0.28090	.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain;Zona pellucida domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001008	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.003788	0.1429	33.22	34	chr7	76433481	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1257	6	1	0	0
chr7	77059374	77059374	G	-	exonic	SPDYE18	.	frameshift deletion	SPDYE18:NM_001351348:exon2:c.185delC:p.P62Hfs*34	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	127.23	22	chr7	77059373	.	TG	T	127.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.671;DP=172;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=27.62;MQRankSum=-3.244;QD=7.07;ReadPosRankSum=-0.844;SOR=0.446	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1224	5	0	1	1
chr7	78521441	78521441	A	T	exonic	MAGI2	.	nonsynonymous SNV	MAGI2:NM_001301128:exon4:c.T743A:p.V248E,MAGI2:NM_012301:exon4:c.T743A:p.V248E	.	447	1071	3	1	0	5	0.00232883	.	.	.	1510295	Nephrotic_syndrome_15|not_provided|not_specified	MONDO:MONDO:0033262,MedGen:C4539896,OMIM:617609|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.086	0.0112919991677	.	.	9.887e-05	0	0	0	0	0.0001	0	0.0002	7.76e-05	12	154602	rs761048587	6.433e-05	6.43e-05	4.903e-05	7.978e-05	0.0005	5.363e-05	4.978e-05	0.0001	0.0001	0	0	0	0	0	0.0005	5.937e-05	0.0001	0.0002	1.972e-05	1.97e-05	1.285e-05	2.69e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.08	0.34095	T	0.696	0.05805	T	0.09	0.25173	B	0.034	0.22546	B	0.926535	0.08451	U	0.942757	0.999314	0.21372	N	0.345	0.11182	N	2.99	0.10291	T	-1.18	0.30762	N	0.335	0.54409	-0.9772	0.35638	T	0.013	0.05273	T	10	0.06418297	0.08475	T	0.011292	0.28764	T	0.086	0.25016	.	.	0.043077524339	0.03247	0.3137999426188536	0.31292	0.406277898275	0.41503	0.339578688145	0.16375	T	0.076184	0.56813	T	-0.37399	0.03397	T	-0.478795	0.24574	T	0.043468868192153	0.04324	T	0.911209	0.72634	D	0.08047314	0.18442	0.12228354	0.29499	0.08047314	0.18442	0.12228354	0.29498	-6.29	0.48642	T	.	.	0.125	0.32054	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.232777	0.28505	17.82	0.94549800046332033	0.25065	0.68180	0.33705	D	AEFI	0.258868	0.37732	N	-0.486994988579228	0.22507	1.202228	-0.382748450571532	0.25511	1.403402	0.0417725241918615	0.14498	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.67	3.29	0.36801	2.899000	0.48378	3.404000	0.38147	0.756000	0.94297	0.854000	0.30511	0.397000	0.24692	0.811000	0.38219	0.5928:0.1684:0.2388:0.0	4.205	0.09944	981	0.03995	Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit;.;Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit;.;Guanylate kinase/L-type calcium channel beta subunit;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	642.83	34	chr7	78521441	.	A	T	642.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.5;DP=219;ExcessHet=0;FS=4.432;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=1.75;SOR=1.41	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1065	6	0	1	0
chr7	80671008	80671008	A	C	exonic	CD36	.	nonsynonymous SNV	CD36:NM_001289908:exon6:c.A733C:p.N245H,CD36:NM_001371080:exon7:c.A385C:p.N129H,CD36:NM_001127444:exon8:c.A850C:p.N284H,CD36:NM_001289909:exon8:c.A670C:p.N224H,CD36:NM_001289911:exon8:c.A622C:p.N208H,CD36:NM_001127443:exon9:c.A850C:p.N284H,CD36:NM_000072:exon10:c.A850C:p.N284H,CD36:NM_001001547:exon10:c.A850C:p.N284H,CD36:NM_001001548:exon10:c.A850C:p.N284H,CD36:NM_001371074:exon10:c.A850C:p.N284H,CD36:NM_001371075:exon10:c.A850C:p.N284H,CD36:NM_001371077:exon10:c.A850C:p.N284H,CD36:NM_001371078:exon10:c.A850C:p.N284H,CD36:NM_001371079:exon10:c.A748C:p.N250H,CD36:NM_001371081:exon10:c.A385C:p.N129H	Platelet glycoprotein IV deficiency, Autosomal recessive	5	1516	1	0	0	1	0.000329707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.269	0.0367667101625	.	.	8.24e-06	0	0	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs768809508	2.601e-05	2.668e-05	3.133e-05	2.064e-05	3.239e-05	1.933e-05	1.693e-05	2.371e-05	2.104e-05	0	0	0	0	0	0	3.239e-05	1.657e-05	1.16e-05	1.971e-05	1.97e-05	3.854e-05	0	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.039	0.49613	D	0.117	0.39340	T	0.703	0.41913	P	0.54	0.48825	P	0.001109	0.40219	N	0.283599	1	0.21810	N	2.75	0.80375	M	-0.61	0.71779	T	-2.72	0.57920	D	0.357	0.42050	-0.6202	0.63980	T	0.315	0.68504	T	9	0.21077952	0.37483	T	0.036767	0.57199	D	0.269	0.58381	0.4	0.42917	0.130388298395	0.12655	0.7499346495559543	0.74940	3.71968781554E-4	0.00038	0.347700089216	0.17583	T	0.13585	0.46790	T	-0.105591	0.35497	T	-0.292596	0.45501	T	0.786999106407166	0.45494	D	0.889111	0.63379	D	0.482962	0.66080	0.29364994	0.55393	0.482962	0.66080	0.29364994	0.55393	-6.551	0.50678	T	0.3594371646804513	0.45600	0.090	0.12465	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.369616	0.17795	13.37	0.99236062075628162	0.56373	0.20315	0.20995	N	AEFCI	0.375547	0.46004	N	-0.646079361111405	0.17574	0.905494	-0.799998878018092	0.14496	0.7576667	0.118817501089885	0.16831	0.638212	0.43195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.85	-2.72	0.05616	-0.267000	0.08648	-0.404000	0.09391	-0.107000	0.15377	0.000000	0.06391	0.000000	0.08366	0.829000	0.39076	0.379:0.1386:0.4824:0.0	9.664	0.39138	971	0.05719	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	562.45	33	chr7	80671008	.	A	C	562.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.18;DP=215;ExcessHet=0;FS=2.402;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=1.21;SOR=0.36	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1124	6	0	1	0
chr7	80673392	80673392	-	TTCT	exonic	CD36	.	frameshift insertion	CD36:NM_001289908:exon9:c.1120_1121insTTCT:p.W376Sfs*4,CD36:NM_001371080:exon10:c.772_773insTTCT:p.W260Sfs*4,CD36:NM_001127444:exon11:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001289909:exon11:c.1057_1058insTTCT:p.W355Sfs*4,CD36:NM_001289911:exon11:c.1009_1010insTTCT:p.W339Sfs*4,CD36:NM_001127443:exon12:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_000072:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001001547:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001001548:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001371074:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001371075:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001371077:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001371078:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001371079:exon13:c.1135_1136insTTCT:p.W381Sfs*4,CD36:NM_001371081:exon13:c.772_773insTTCT:p.W260Sfs*4	Platelet glycoprotein IV deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1020402	Platelet-type_bleeding_disorder_10	MONDO:MONDO:0012031,MedGen:C1842090,OMIM:608404	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	8.703e-05	0	0	0	0	0.0019	0.0002135	33	154602	rs757142781	0.0002	0.0002	6.199e-05	0.0003	0.0025	0.0001	0.0001	0.0022	0.0021	0	0	0	0	0	0.0005	0	0.0002	0.0025	0.0001	0.0001	2.577e-05	0.0002	0.0035	8.683e-05	7.271e-05	0.0022	0.0018	0	0	0	0	0	0	0	0	0.0014	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001009	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	509.4	16	chr7	80673392	.	A	ATTCT	509.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.245;DP=156;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=0.217;SOR=0.818	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,969	6	0	1	0
chr7	80674072	80674075	ACTC	-	exonic	CD36	.	frameshift deletion	CD36:NM_001289908:exon10:c.1227_1230del:p.L410Vfs*5,CD36:NM_001371080:exon11:c.879_882del:p.L294Vfs*5,CD36:NM_001127444:exon12:c.1344_1347del:p.L449Vfs*5,CD36:NM_001289909:exon12:c.1164_1167del:p.L389Vfs*5,CD36:NM_001289911:exon12:c.1116_1119del:p.L373Vfs*5,CD36:NM_001127443:exon13:c.1344_1347del:p.L449Vfs*5,CD36:NM_000072:exon14:c.1344_1347del:p.L449Vfs*5,CD36:NM_001001547:exon14:c.1344_1347del:p.L449Vfs*5,CD36:NM_001001548:exon14:c.1344_1347del:p.L449Vfs*5,CD36:NM_001371074:exon14:c.1344_1347del:p.L449Vfs*5,CD36:NM_001371075:exon14:c.1344_1347del:p.L449Vfs*5,CD36:NM_001371077:exon14:c.1344_1347del:p.L449Vfs*5,CD36:NM_001371078:exon14:c.1344_1347del:p.L449Vfs*5,CD36:NM_001371079:exon14:c.1242_1245del:p.L415Vfs*5,CD36:NM_001371081:exon14:c.879_882del:p.L294Vfs*5	Platelet glycoprotein IV deficiency, Autosomal recessive	2	1518	2	0	0	2	0.000658328	.	.	.	3227212	Platelet-type_bleeding_disorder_10	MONDO:MONDO:0012031,MedGen:C1842090,OMIM:608404	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1261881244	3.429e-06	3.421e-06	4.094e-06	2.757e-06	0.0003	1e-06	7.3e-07	6.105e-05	2.526e-05	0	0	0	0	1.875e-05	0.0003	9.015e-07	1.66e-05	0	6.579e-06	6.568e-06	0	1.347e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1539.23	33	chr7	80674071	.	TACTC	T	1539.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.047;DP=285;ExcessHet=0;FS=1.665;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=-1.002;SOR=0.512	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,111,1665	5	0	1	1
chr7	82066526	82066526	-	AA	splicing	CACNA2D1	NM_001366867:exon8:c.659-2->TT;NM_000722:exon8:c.659-2->TT;NM_001302890:exon8:c.659-2->TT	.	.	.	.	.	.	.	.	.	.	.	.	.	1274562	not_specified|not_provided|Cardiovascular_phenotype	MedGen:CN169374|MedGen:C3661900|MedGen:CN230736	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.0034	0.0009	0.0006	0.0026	0.0034	0.0034	0.0042	0.0001537	4	26028	rs370103843	0.0056	0.0073	0.0056	0.0055	0.0062	0.0055	0.0054	0.0057	0.0056	0.0037	0.0031	0.0020	0.0021	0.0077	0.0039	0.0058	0.0057	0.0062	0.0073	0.0071	0.0069	0.0077	0.0106	0.0069	0.0067	0.0098	0.0095	0.0028	0	0.0048	0	0.0005	0.0204	0	0.0106	0.0124	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	406.04	13	chr7	82066526	.	T	TAA	406.04	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.431;DP=116;ExcessHet=6.1542;FS=3.777;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.81;ReadPosRankSum=0;SOR=0.318	GT:AD:DP:GQ:PL	0/0:7,0:12:82:82,102,208	5	0	1	1
chr7	82955138	82955138	C	T	exonic	PCLO	.	nonsynonymous SNV	PCLO:NM_014510:exon5:c.G5815A:p.E1939K,PCLO:NM_033026:exon5:c.G5815A:p.E1939K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00514894082584	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.44	0.14771	T	0.037	0.20876	B	0.013	0.16460	B	.	.	.	.	0.992346	0.41620	D	.	.	.	2.31	0.16794	T	-1.71	0.40660	N	0.45	0.48780	-1.1185	0.02428	T	0.048	0.20632	T	9	0.16918057	0.31512	T	0.005149	0.13094	T	0.076	0.22200	0.438	0.49157	0.082315109003	0.07666	0.3023342481798755	0.30146	0.0392133884241	0.04181	0.418888568878	0.27684	T	.	.	.	-0.204774	0.20121	T	-0.53192	0.19096	T	0.426290482282639	0.29923	T	0.868613	0.57103	D	0.23217782	0.46001	0.2780058	0.53758	0.23217782	0.46001	0.2780058	0.53757	-4.507	0.30980	T	.	.	0.172	0.37764	B	.;.	.;.	3.450455	0.48049	22.6	0.98721758891667222	0.45215	0.68111	0.33679	D	AEFHCI	0.327377	0.42837	N	0.0637210915380149	0.44775	2.745526	0.236738383666264	0.51897	3.368527	0.904443024280057	0.26179	0.553676	0.25195	0	0.615948	0.52940	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.57	5.57	0.84021	3.740000	0.54802	7.715000	0.67011	0.599000	0.40250	0.948000	0.32982	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.540	0.95264	887	0.27948	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	36.93	36	chr7	82955138	.	C	T	36.93	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.876;DP=329;ExcessHet=0;FS=106.683;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.3;ReadPosRankSum=0.097;SOR=6.356	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	6	0	1	0
chr7	84005436	84005436	T	C	exonic	SEMA3A	.	nonsynonymous SNV	SEMA3A:NM_006080:exon11:c.A1263G:p.I421M	.	.	.	.	.	.	.	.	.	.	.	2799642	SEMA3A-related_disorder	.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.276	0.0335024169742	.	.	0.0002	0	0	0	0	0	0	0.0016	0.0001746	27	154602	rs758392343	7.526e-05	7.525e-05	3.131e-05	0.0001	0.0013	6.383e-05	5.939e-05	0.0011	0.0010	0	0	0	0	0	0	0	0	0.0013	6.573e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.003	0.68238	D	0.007	0.69154	D	0.992	0.64738	D	0.975	0.73362	D	0.000000	0.84330	D	0.000000	0.999981	0.54805	D	2.635	0.77114	M	2.73	0.11839	T	-1.56	0.37759	N	0.631	0.64478	-1.0486	0.14790	T	0.088	0.34133	T	10	0.36624053	0.53123	T	0.033502	0.55023	D	0.276	0.59253	0.609	0.74182	0.331200485591	0.32731	0.5657562075760906	0.56503	0.745565018863	0.63500	0.416620790958	0.27373	T	0.287913	0.66071	T	-0.315947	0.07235	T	-0.26199	0.48625	T	0.247165359863188	0.22746	T	0.921608	0.71541	D	0.6156025	0.73528	0.49050537	0.70524	0.6156025	0.73529	0.49050537	0.70524	-6.343	0.49063	T	0.3176794349296935	0.41576	0.111	0.21466	B	.;.	.;.	2.443220	0.31445	18.74	0.99651196065080327	0.77317	0.75813	0.37140	D	AEFBI	0.213243	0.33885	N	0.297355651653825	0.56014	3.765637	0.168945241357755	0.48154	3.035263	0.00173170649734895	0.08828	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.96	0.433	0.15747	0.189000	0.16845	0.628000	0.20199	0.609000	0.47794	0.993000	0.37899	1.000000	0.68203	0.749000	0.35751	0.1086:0.0:0.6217:0.2696	9.545	0.38438	766	0.49742	Sema domain|Sema domain|Sema domain;Sema domain|Sema domain|Sema domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1470.46	36	chr7	84005436	.	T	C	1470.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.155;DP=339;ExcessHet=0;FS=0.64;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=1.46;SOR=0.607	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr7	85121833	85121833	G	A	exonic	SEMA3D	.	nonsynonymous SNV	SEMA3D:NM_152754:exon2:c.C59T:p.P20L,SEMA3D:NM_001384900:exon3:c.C59T:p.P20L,SEMA3D:NM_001384901:exon4:c.C59T:p.P20L,SEMA3D:NM_001384902:exon5:c.C59T:p.P20L,SEMA3D:NM_001384903:exon5:c.C59T:p.P20L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00426766593785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.711	0.22660	T	0.385	0.16182	T	0.0	0.18885	B	0.0	0.12133	B	0.021167	0.01546	N	2.177800	0.999998	0.08975	N	0.895	0.22405	L	1.58	0.29602	T	-0.65	0.22078	N	0.17	0.20793	-1.0512	0.14064	T	0.035	0.15030	T	10	0.058228105	0.06811	T	0.004268	0.10341	T	0.039	0.10176	0.457	0.52265	0.303123707472	0.29912	0.29724530010430456	0.29637	0.154359173119	0.17432	0.279192626476	0.07380	T	0.004776	0.10082	T	-0.247754	0.14376	T	-0.593658	0.13350	T	0.0375002611655645	0.03244	T	0.626337	0.24237	T	0.03208135	0.03167	0.02702255	0.00826	0.03208135	0.03167	0.02702255	0.00825	-2.782	0.08018	T	.	.	0.110	0.21011	B	.;.	.;.	0.447806	0.08180	4.914	0.58935329383179291	0.06107	0.03668	0.08930	N	AEFI	0.052037	0.09249	N	-1.57219455288948	0.01409	0.06144706	-1.45039530288574	0.02766	0.1278451	9.15126456943786E-6	0.01202	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.72	0.382	0.15457	0.214000	0.17331	0.042000	0.13882	-1.953000	0.00482	0.242000	0.24768	0.006000	0.19429	0.682000	0.33600	0.1278:0.0723:0.2749:0.525	3.224	0.06326	907	0.22727	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	796.83	40	chr7	85121833	.	G	A	796.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.652;DP=236;ExcessHet=0;FS=0.93;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.449;SOR=0.742	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1052	6	0	1	0
chr7	86913122	86913122	C	T	exonic	ELAPOR2	.	nonsynonymous SNV	ELAPOR2:NM_001291991:exon13:c.G1094A:p.R365H,ELAPOR2:NM_152748:exon13:c.G1313A:p.R438H,ELAPOR2:NM_001142749:exon14:c.G1814A:p.R605H,ELAPOR2:NM_001291990:exon14:c.G1472A:p.R491H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0244298409607	0.0003	0.000399361	0.0001	0.0013	0	0	0	0	0	0	0.0001229	19	154602	rs34772926	6.636e-05	6.635e-05	7.351e-05	5.913e-05	0.0014	5.562e-05	5.153e-05	0.0011	0.0010	0.0014	0	3.826e-05	0	0	0	3.687e-05	8.28e-05	2.319e-05	0.0005	0.0005	0.0004	0.0005	0.0017	0.0004	0.0004	0.0014	0.0013	0.0017	0	6.543e-05	0	0	0	0	2.94e-05	0	0	0.041	0.41915	D	0.122	0.36901	T	0.562	0.38380	P	0.148	0.34065	B	0.000000	0.84330	D	0.049542	0.999999	0.81001	D	2.31	0.66127	M	-0.01	0.62918	T	-3.02	0.62630	D	0.414	0.45426	-0.7172	0.59600	T	0.220	0.58253	T	10	0.051861763	0.05131	T	0.02443	0.47418	T	0.142	0.37995	.	.	0.743281033396	0.74097	0.36577513173165	0.36491	0.440921022028	0.44089	0.712496995926	0.68955	T	0.17879	0.52957	T	-0.288744	0.09763	T	-0.200768	0.54574	T	0.0988287379943362	0.12228	T	0.863614	0.59649	D	0.28551197	0.51572	0.17004165	0.39084	0.28551197	0.51572	0.17004165	0.39083	-10.271	0.75519	D	.	.	0.086	0.14431	B	.;.	.;.	3.734674	0.53444	23.4	0.99827620472126499	0.90939	0.94365	0.60933	D	AEFBI	0.656516	0.62848	D	0.24567859907788	0.53426	3.511449	0.386718425295093	0.60745	4.265663	0.999995601579713	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	3.651000	0.54172	3.321000	0.37545	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	19.087	0.93192	587	0.69154	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2157.49	35	chr7	86913122	.	C	T	2157.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.116;DP=362;ExcessHet=0;FS=1.163;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-0.913;SOR=0.593	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1039	6	0	1	0
chr7	87392570	87392570	G	A	exonic	CROT	.	nonsynonymous SNV	CROT:NM_021151:exon15:c.G1430A:p.R477H,CROT:NM_001143935:exon16:c.G1514A:p.R505H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.0215550194545	7.7e-05	.	2.486e-05	0	0	0	0	4.501e-05	0	0	3.23e-05	5	154602	rs143648273	2.396e-05	2.394e-05	2.044e-05	2.752e-05	2.992e-05	1.74e-05	1.54e-05	1.831e-05	1.583e-05	2.992e-05	0	0	0	5.622e-05	0	2.61e-05	3.314e-05	0	6.577e-06	6.569e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.605	0.06482	T	0.242	0.31326	T	0.0	0.02946	B	0.0	0.01387	B	0.793789	0.09377	N	0.920708	1	0.08975	N	-0.345	0.03330	N	-2.47	0.88997	D	0.23	0.04613	N	0.161	0.16864	-0.8019	0.55032	T	0.306	0.67722	T	10	0.04864958	0.04344	T	0.021555	0.44345	T	0.181	0.45247	.	.	0.470648230714	0.46691	0.21276111912570017	0.21192	0.0280943625436	0.02891	0.25726544857	0.04571	T	0.157111	0.49956	T	-0.199358	0.20898	T	-0.460494	0.26544	T	0.0253573656091305	0.01319	T	0.153985	0.01332	T	0.032527722	0.03296	0.027917309	0.00982	0.032527722	0.03296	0.027917309	0.00982	-3.746	0.20178	T	.	.	0.076	0.09336	B	.;.;.	.;.;.	0.935672	0.13111	9.613	0.94730922508788518	0.25412	0.02248	0.06514	N	AEFBCI	0.023082	0.01239	N	-1.35838131949002	0.03039	0.135135	-1.29357012663565	0.04516	0.2132274	0.997441788427386	0.35625	0.615465	0.37627	0	0.601575	0.49859	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.93	-2.24	0.06518	-0.037000	0.12116	-0.212000	0.10844	-0.529000	0.04963	0.000000	0.06391	0.000000	0.08366	0.817000	0.38496	0.4057:0.118:0.1596:0.3167	1.235	0.01834	488	0.76887	.;Choline/carnitine acyltransferase domain;Choline/carnitine acyltransferase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	158.27	21	chr7	87392570	.	G	A	158.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.06;DP=116;ExcessHet=0;FS=2.737;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.19;ReadPosRankSum=2.14;SOR=1.609	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,681	5	0	1	1
chr7	89333386	89333386	A	G	exonic	ZNF804B	.	nonsynonymous SNV	ZNF804B:NM_181646:exon4:c.A404G:p.Y135C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.00338227170105	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772556687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.577e-06	6.568e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.033	0.44358	D	0.185	0.34124	T	0.117	0.26519	B	0.019	0.18783	B	0.828953	0.09121	N	0.916984	0.555043	0.31303	N	2.05	0.56469	M	2.3	0.16953	T	-4.68	0.79659	D	0.593	0.61256	-1.0078	0.27603	T	0.020	0.08407	T	10	0.25192264	0.42539	T	0.003382	0.07572	T	0.238	0.54217	0.529	0.63560	0.176091768786	0.17195	0.33240035492913383	0.33153	0.272279200615	0.29743	0.474270224571	0.35268	T	0.047277	0.27676	T	-0.0174067	0.49222	T	-0.26278	0.48547	T	0.682571232318878	0.39905	D	0.768023	0.40374	T	0.15912147	0.35760	0.23082563	0.48196	0.15912147	0.35760	0.23082563	0.48195	-4.679	0.33149	T	.	.	0.183	0.39681	B	.;.	.;.	2.962720	0.39457	21.0	0.97946387393654055	0.37071	0.85024	0.44125	D	AEFI	0.563603	0.57073	D	-0.392938753113565	0.25719	1.398291	-0.224034719633668	0.30677	1.729323	1.43385590717172E-4	0.05573	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.4	1.34	0.21018	3.017000	0.49302	3.525000	0.38921	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.36:0.0:0.0834:0.5567	5.726	0.17280	911	0.21964	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	311.63	27	chr7	89333386	.	A	G	311.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.439;DP=174;ExcessHet=0;FS=1.651;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=1.79;SOR=0.33	GT:AD:DP:GQ:PL	0/1:19,13:32:99:322,0,571	6	0	1	0
chr7	90310080	90310080	G	A	exonic	CFAP69	.	nonsynonymous SNV	CFAP69:NM_001363438:exon22:c.G2470A:p.G824R,CFAP69:NM_001039706:exon23:c.G2668A:p.G890R,CFAP69:NM_001160138:exon23:c.G2614A:p.G872R	.	438	1080	4	0	0	4	0.00184843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.00386627355261	0.0004	0.000199681	0.0004	0	8.67e-05	0	0	0.0005	0.0011	0.0012	0.0003493	54	154602	rs201625526	0.0005	0.0005	0.0005	0.0006	0.0019	0.0005	0.0005	0.0011	0.0009	2.998e-05	0.0003	0	0	0	0.0019	0.0005	0.0006	0.0011	0.0004	0.0004	0.0004	0.0003	0.0010	0.0003	0.0003	0.0005	0.0004	7.223e-05	0	0.0003	0	0	0	0	0.0006	0	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.944057	0.08333	N	0.972735	1	0.08975	N	.	.	.	2.8	0.18248	T	1.7	0.00577	N	0.038	0.02272	-1.0256	0.21886	T	0.027	0.11707	T	10	0.0074765086	0.00170	T	0.003866	0.09055	T	0.111	0.31313	0.222	0.14518	0.139678290688	0.13603	0.27675138432635393	0.27588	0.0754644379906	0.08464	.	.	.	0.003066	0.02464	T	-0.525898	0.00406	T	-0.573744	0.15107	T	0.0133493159871707	0.00241	T	0.683432	0.29780	T	0.060298074	0.12356	0.056946788	0.10265	0.060298074	0.12356	0.056946788	0.10264	-4.278	0.27867	T	.	.	0.068	0.04847	B	.;.;.	.;.;.	0.940449	0.13162	9.662	0.61929256494775453	0.06833	0.08978	0.14823	N	AEFBHCI	0.096012	0.19390	N	-1.02400662387101	0.08108	0.3790012	-1.05416468328895	0.08620	0.4247442	0.00652563335536015	0.11241	0.656854	0.48797	0	0.588015	0.36545	0	0.67347	0.61138	0	0.699908	0.69081	0	.	.	5.61	-1.25	0.08920	0.041000	0.13813	0.310000	0.17073	-0.179000	0.10443	0.000000	0.06391	0.000000	0.08366	0.053000	0.15439	0.0945:0.3926:0.5129:0.0	16.098	0.80953	706	0.57215	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.002518	0.005051	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	110.63	24	chr7	90310080	.	G	A	110.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=143;ExcessHet=0;FS=2.307;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.91;ReadPosRankSum=-0.17;SOR=1.721	GT:AD:DP:GQ:PL	0/0:30,0:30:84:0,84,1260	6	0	1	0
chr7	90413023	90413023	C	T	exonic	CLDN12	.	nonsynonymous SNV	CLDN12:NM_001185073:exon3:c.C347T:p.S116L,CLDN12:NM_012129:exon3:c.C347T:p.S116L,CLDN12:NM_001185072:exon4:c.C347T:p.S116L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0263754937831	.	.	1.647e-05	0	8.639e-05	0	0	1.498e-05	0	0	1.29e-05	2	154602	rs747740249	4.788e-06	4.788e-06	6.806e-06	2.75e-06	5.038e-05	1.99e-06	1.28e-06	8.35e-06	3.12e-06	0	2.236e-05	0	5.038e-05	0	0	1.799e-06	1.656e-05	1.159e-05	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.018	0.54683	D	0.094	0.39645	T	0.348	0.33602	B	0.062	0.26930	B	0.029181	0.25493	N	0.446317	0.984611	0.24785	N	1.67	0.42885	L	-0.64	0.77593	T	-2.93	0.61284	D	0.251	0.28381	-0.6761	0.61552	T	0.260	0.63055	T	10	0.23626679	0.40704	T	0.026375	0.49291	D	0.154	0.40340	0.256	0.19689	0.854006300897	0.85260	0.5518765609639702	0.55113	.	.	0.551545739174	0.46076	T	0.195377	0.55144	T	-0.0635428	0.42351	T	-0.246186	0.50193	T	0.472267180681229	0.31614	T	0.913609	0.69895	D	0.16551758	0.36829	0.15656576	0.36650	0.16551758	0.36829	0.15656576	0.36650	-5.131	0.38232	T	.	.	0.143	0.33156	B	.;.;.;.;.	.;.;.;.;.	3.201363	0.43535	21.8	0.99540368708286486	0.70461	0.28827	0.23659	N	ALL	0.377262	0.46110	N	-0.213472603701853	0.32580	1.838922	-0.108739829714104	0.35037	2.022328	0.999999999985138	0.74766	0.631981	0.41245	0	0.636889	0.57051	0	0.779548	0.98927	0	0.297074	0.05519	2	.	.	5.04	5.04	0.67293	0.879000	0.27783	5.941000	0.51480	0.549000	0.26987	0.323000	0.25529	1.000000	0.68203	0.891000	0.42908	0.0:0.744:0.256:0.0	14.203	0.65261	642	0.63909	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1191.44	33	chr7	90413023	.	C	T	1191.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.733;DP=310;ExcessHet=0;FS=2.418;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=-1.433;SOR=0.963	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1296	6	0	1	0
chr7	91874600	91874600	G	A	exonic	MTERF1	.	nonsynonymous SNV	MTERF1:NM_001301134:exon2:c.C134T:p.T45I,MTERF1:NM_006980:exon3:c.C194T:p.T65I,MTERF1:NM_001301135:exon4:c.C134T:p.T45I	.	435	1028	56	3	0	62	0.0292729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0040	0.00559105	0.0068	0.0008	0.0039	0	0.0008	0.0054	0.0077	0.0246	0.0063777	986	154602	rs144315661	0.0060	0.0061	0.0053	0.0068	0.0242	0.0059	0.0059	0.0234	0.0230	0.0007	0.0049	0.0093	2.519e-05	0.0009	0.0189	0.0051	0.0065	0.0242	0.0037	0.0037	0.0036	0.0038	0.0193	0.0034	0.0033	0.0161	0.0150	0.0008	0.0022	0.0046	0.0078	0.0004	0.0005	0.0136	0.0046	0.0057	0.0193	0.022	0.53172	D	0.056	0.48336	T	0.0	0.02946	B	0.0	0.01387	B	0.248325	0.03630	N	1.642570	1	0.08975	N	.	.	.	2.14	0.19588	T	-1.41	0.46673	N	0.065	0.06454	-1.0217	0.23162	T	0.016	0.06616	T	10	0.0039517283	0.00076	T	.	.	.	0.038	0.09825	.	.	0.132336055621	0.12781	0.2644336759851309	0.26356	0.0143366314817	0.01361	0.268318295479	0.05923	T	0.04567	0.28255	T	-0.603668	0.00139	T	-0.620979	0.11108	T	0.000724357750141172	0.00007	T	0.316468	0.06291	T	0.072079584	0.16005	0.06939085	0.14615	0.072079584	0.16005	0.06939085	0.14614	-3.658	0.18700	T	.	.	0.085	0.13644	B	.;.;.;.;.	.;.;.;.;.	-0.333427	0.02474	0.287	0.96019872344555135	0.28471	0.08748	0.14631	N	AEFBI	0.060282	0.11445	N	-1.29027437057803	0.03791	0.1700041	-1.3719998385924	0.03553	0.1659791	0.267473086559066	0.18856	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.23	-5.02	0.02759	-0.051000	0.11840	0.012000	0.13456	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1521:0.15:0.2022:0.4958	2.209	0.03702	144	0.94257	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012085	0.005051	0.008152	0.002924	0.000000	0.008621	0.018293	0.037879	0.07143	110.44	33	chr7	91874600	.	G	A	110.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.383;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.41;ReadPosRankSum=0.21;SOR=0.707	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1083	6	0	1	0
chr7	92040807	92040807	G	A	exonic	AKAP9	.	nonsynonymous SNV	AKAP9:NM_005751:exon18:c.G4826A:p.R1609K,AKAP9:NM_147185:exon18:c.G4826A:p.R1609K	.	2	1517	3	0	0	3	0.000987817	.	.	.	655810	not_specified|Long_QT_syndrome|Cardiovascular_phenotype|not_provided	MedGen:CN169374|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.037	0.0105003809502	.	0.000599042	0.0004	0	0.0025	0	0.0002	0.0003	0.0033	0	0.0003946	61	154602	rs148146011	0.0003	0.0003	0.0003	0.0003	0.0033	0.0002	0.0002	0.0022	0.0018	2.987e-05	0.0020	0.0007	0	3.744e-05	0.0033	0.0002	0.0007	0.0001	0.0003	0.0003	0.0003	0.0003	0.0012	0.0002	0.0002	0.0008	0.0007	9.633e-05	0	0.0012	0.0012	0	0	0	0.0002	0.0005	0.0004	0.186	0.21467	T	0.686	0.07518	T	.	.	.	.	.	.	0.000524	0.43581	D	0.000000	0.954299	0.26374	N	.	.	.	4.05	0.03092	T	-0.35	0.12847	N	0.113	0.26957	-1.0222	0.22998	T	0.013	0.05033	T	10	0.011005938	0.00242	T	0.011	0.27109	T	0.037	0.09474	.	.	0.385084120042	0.38121	0.21059081786531725	0.20975	0.199357701048	0.22332	0.707103550434	0.68173	T	0.257823	0.64280	T	-0.560859	0.00251	T	-0.584888	0.14111	T	0.0222847738322418	0.00941	T	0.806219	0.45479	T	0.09535455	0.22439	0.11842089	0.28586	0.09535455	0.22438	0.11842089	0.28585	-5.876	0.45230	T	.	.	0.243	0.49711	B	.;.;.;.	.;.;.;.	3.796036	0.54670	23.5	0.91839952688437132	0.21152	0.85325	0.44447	D	AEFBI	0.210202	0.33612	N	0.0236045481696767	0.42930	2.596034	0.133577509776135	0.46276	2.876341	0.996458878739137	0.34757	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.37	4.48	0.53973	2.851000	0.48001	9.656000	0.81182	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.904000	0.43992	0.1443:0.0:0.8557:0.0	10.84	0.45913	231	0.90996	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.015152	0.004076	0.017544	0.000000	0.000000	0.000000	0.000000	0.07143	1616.63	82	chr7	92040807	.	G	A	1616.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.178;DP=302;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.72;ReadPosRankSum=-2.362;SOR=0.78	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,104,1041:.	6	0	1	0
chr7	92469542	92469542	C	A	exonic	ERVW-1	.	nonsynonymous SNV	ERVW-1:NM_014590:exon1:c.G840T:p.L280F,ERVW-1:NM_001130925:exon2:c.G840T:p.L280F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00156914295602	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1422470365	0	7.952e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.021	0.58089	D	.	.	.	.	.	.	0.084498	0.02389	U	415.972000	0.999972	0.18612	N	.	.	.	1.78	0.25678	T	-3.2	0.64710	D	0.152	0.15609	-0.9857	0.33663	T	0.086	0.33326	T	7	0.17166036	0.31896	T	0.001569	0.02497	T	0.045	0.12272	0.524	0.62818	0.192905019026	0.18896	0.3689885199974562	0.36812	0.914874016982	0.71196	0.531175136566	0.43201	T	0.03482	0.23473	T	-0.218081	0.18255	T	-0.551035	0.17227	T	0.961267530918121	0.66034	D	0.336266	0.07184	T	0.25721347	0.48764	0.24700962	0.50223	0.25721347	0.48764	0.24700962	0.50222	-4.337	0.28692	T	.	.	0.180	0.39220	B	.;.	.;.	2.383459	0.30602	18.49	0.99607219406505487	0.74575	0.02303	0.06618	N	AEFI	0.046326	0.07681	N	-0.418332627553278	0.24827	1.343301	-0.594615789211273	0.19632	1.054232	2.73524271504788E-4	0.06300	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.046	0.046	0.13572	0.145000	0.15978	0.277000	0.16723	0.154000	0.17704	0.746000	0.29090	0.668000	0.26052	0.816000	0.38450	.	.	.	614	0.66605	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	78.63	64	chr7	92469542	.	C	A	78.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.118;DP=360;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.41;MQRankSum=-6.113;QD=2.02;ReadPosRankSum=-0.238;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,1146:.	6	0	1	0
chr7	92469996	92469996	A	G	exonic	ERVW-1	.	nonsynonymous SNV	ERVW-1:NM_014590:exon1:c.T386C:p.V129A,ERVW-1:NM_001130925:exon2:c.T386C:p.V129A	.	551	945	26	0	0	26	0.0135699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	0.0082	0.00499201	0.0074	0.0015	0.0047	0	0.0011	0.0118	0.0070	0.0018	0.0070827	1095	154602	rs142852059	0.0078	0.0078	0.0077	0.0079	0.0183	0.0076	0.0076	0.0141	0.0126	0.0019	0.0056	0.0154	5.549e-05	0.0011	0.0183	0.0105	0.0093	0.0029	0.0065	0.0065	0.0072	0.0058	0.0100	0.0062	0.0060	0.0094	0.0091	0.0019	0.0022	0.0083	0.0121	0	0.0008	0.0204	0.0100	0.0095	0.0050	0.02	0.49613	D	0.049	0.48336	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.24	0.17923	T	-1.0	0.26422	N	0.053	0.02964	-1.0259	0.21788	T	0.024	0.10148	T	6	0.004876077	0.00104	T	.	.	.	0.047	0.12962	.	.	0.0846915920261	0.08053	0.5273443581848267	0.52658	0.401209546	0.41108	0.52984726429	0.43013	T	0.008542	0.07834	T	-0.668288	0.00056	T	-0.722338	0.04683	T	0.0131194170398087	0.00231	T	0.268673	0.04486	T	0.11896522	0.28020	0.15734355	0.36797	0.11896522	0.28020	0.15734355	0.36796	-3.739	0.19895	T	.	.	0.237	0.47039	B	.;.	.;.	0.017815	0.04408	1.147	0.86537609897876433	0.16603	0.00541	0.02492	N	AEGI	0.028852	0.02618	N	-0.623179455358839	0.18249	0.9459477	-0.838648393074483	0.13560	0.7041575	0.00115902076216214	0.08283	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.046	0.046	0.13572	0.164000	0.16359	0.360000	0.17566	0.187000	0.17834	0.290000	0.25233	0.003000	0.18671	0.338000	0.25386	.	.	.	615	0.66512	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	236.44	36	chr7	92469996	.	A	G	236.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.727;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.44;ReadPosRankSum=0.192;SOR=0.627	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1146	6	0	1	0
chr7	92517375	92517375	C	G	exonic	PEX1	.	nonsynonymous SNV	PEX1:NM_000466:exon5:c.G1140C:p.K380N,PEX1:NM_001282677:exon5:c.G1140C:p.K380N,PEX1:NM_001282678:exon5:c.G516C:p.K172N	Heimler syndrome 1, Autosomal recessive;Peroxisome biogenesis disorder 1A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 1B (NALD/IRD), Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0475338403156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.17584	T	0.336	0.25061	T	0.363	0.33965	B	0.075	0.28327	B	0.019306	0.27286	N	0.456434	1	0.08975	N	2.045	0.56016	M	-3.4	0.94469	D	-1.55	0.37566	N	0.155	0.17691	-0.3587	0.73301	T	0.603	0.85889	D	10	0.08887786	0.15343	T	0.047534	0.62965	D	0.109	0.30843	0.401	0.43081	0.716802317414	0.71431	0.3910058426918759	0.39015	0.186505350035	0.20959	0.336459964514	0.15907	T	0.062784	0.36043	T	-0.00308928	0.51229	T	-0.242214	0.50583	T	0.312265932559967	0.25507	T	0.59684	0.22875	T	0.09054874	0.21191	0.05573271	0.09829	0.09054874	0.21190	0.05573271	0.09828	-3.984	0.23563	T	0.11421790710218607	0.10084	0.114	0.29367	B	.;.	.;.	0.689255	0.10580	7.285	0.99365745136551376	0.61198	0.16758	0.19535	N	AEFBI	0.121693	0.23648	N	-0.700700529756348	0.16002	0.8114796	-0.702350992884245	0.16902	0.8963152	0.234847843809107	0.18506	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.94	3.12	0.34986	0.347000	0.19760	0.241000	0.16308	0.599000	0.40250	0.025000	0.20085	0.001000	0.17328	0.697000	0.34049	0.2559:0.5066:0.0:0.2375	4.650	0.11978	798	0.45050	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	178.64	66	chr7	92517375	.	C	G	178.64	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.983;DP=439;ExcessHet=0;FS=177.479;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.88;ReadPosRankSum=0.863;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,19:100:99:.:.:189,0,1965:.	6	0	1	0
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A,SAMD9:NM_017654:exon3:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00364362051594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	0.0001	2.726e-06	2.753e-06	2.701e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	3.828e-05	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.365	0.16717	T	0.278	0.32022	B	0.057	0.26280	B	0.038933	0.24228	N	0.350345	0.999403	0.21245	N	1.395	0.35261	L	1.98	0.21865	T	-0.26	0.11185	N	0.172	0.18376	-1.0035	0.28903	T	0.025	0.10866	T	10	0.101587355	0.18570	T	0.003644	0.08371	T	0.019	0.03383	0.111	0.02112	0.462721901306	0.45895	0.30406387633743254	0.30319	0.206316586236	0.23055	0.261323869228	0.05050	T	0.005306	0.11036	T	-0.27156	0.11583	T	-0.627853	0.10578	T	0.260672181844711	0.23344	T	0.427357	0.11519	T	0.026715023	0.01764	0.03884978	0.03847	0.026715023	0.01763	0.03884978	0.03846	-5.641	0.43165	T	0.1164478318514886	0.10529	0.110	0.22135	B	.;.;.	.;.;.	1.711545	0.21796	15.35	0.15711081566189278	0.00394	0.77281	0.37980	D	AEFBI	0.241180	0.36284	N	-0.496248800179662	0.22203	1.183913	-0.415350861612596	0.24546	1.344766	0.0736999754895762	0.15642	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	0.721	0.17373	1.167000	0.31456	-0.698000	0.07808	-0.200000	0.08971	0.996000	0.39380	0.000000	0.08366	0.044000	0.14658	0.0:0.4337:0.0:0.5663	8.086	0.29933	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	622.35	123	chr7	93102964	.	C	G	622.35	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-5.662;DP=901;ExcessHet=3.1439;FS=135.92;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=0.134;SOR=9.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:155,30:194:99:.:.:321,0,5691:.	2	0	4	1
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R,SAMD9:NM_017654:exon3:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00358717597943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.086	0.40909	T	0.013	0.16609	B	0.007	0.12992	B	0.038933	0.24228	N	0.350345	0.998976	0.21747	N	2.2	0.62015	M	1.96	0.22270	T	-0.4	0.15782	N	0.133	0.12913	-1.0400	0.17313	T	0.033	0.13986	T	10	0.07416803	0.11303	T	0.003587	0.08216	T	0.038	0.09825	0.132	0.03662	0.251639045875	0.24756	0.3058776317445259	0.30500	0.186022872039	0.20906	0.28491345048	0.08187	T	0.005275	0.11722	T	-0.261545	0.12721	T	-0.613468	0.11704	T	0.236644327640533	0.22264	T	0.470853	0.13943	T	0.04599401	0.07624	0.049176365	0.07460	0.04599401	0.07624	0.049176365	0.07460	-5.327	0.40209	T	0.14989570008231407	0.17564	0.173	0.38025	B	.;.;.	.;.;.	2.737985	0.35852	20.1	0.81866065481440609	0.13900	0.88541	0.48516	D	AEFBI	0.296760	0.40652	N	-1.00286225320604	0.08544	0.4010124	-0.91137622340653	0.11826	0.6048167	0.111460904489544	0.16659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	-0.384	0.11853	2.801000	0.47603	1.030000	0.23473	-1.635000	0.00848	0.985000	0.35982	0.000000	0.08366	0.009000	0.08673	0.0:0.5765:0.1236:0.2999	6.198	0.19775	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	842.65	124	chr7	93102965	.	C	G	842.65	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-4.562;DP=900;ExcessHet=4.7409;FS=139.643;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=0.148;SOR=10.1	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:155,42:197:99:.:.:430,0,5671:.	2	0	5	0
chr7	93105694	93105694	-	AACCTTT	exonic	SAMD9	.	stopgain	SAMD9:NM_001193307:exon2:c.403_404insAAAGGTT:p.S135*,SAMD9:NM_017654:exon3:c.403_404insAAAGGTT:p.S135*	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	3	1512	7	0	0	7	0.00230947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.238e-06	0	0	0	0	1.498e-05	0	0	3.84e-05	1	26028	rs757780367	2.052e-06	2.052e-06	0	4.125e-06	0.0003	5.5e-07	1.5e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	55.4	44	chr7	93105694	.	G	GAACCTTT	55.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.366;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.92;ReadPosRankSum=-1.611;SOR=0.307	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	6	0	1	0
chr7	93996297	93996297	C	G	exonic	BET1	.	nonsynonymous SNV	BET1:NM_001317739:exon3:c.G169C:p.V57L,BET1:NM_005868:exon3:c.G169C:p.V57L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0280556482367	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226283124	1.121e-05	1.505e-05	8.372e-06	1.407e-05	1.465e-05	6.64e-06	5.37e-06	8.67e-06	7.02e-06	0	0	0	0	0	0	1.465e-05	0	0	6.595e-06	6.574e-06	1.289e-05	0	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	0.068	0.91255	T	0.076	0.92824	T	0.254	0.31272	B	0.323	0.41825	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.12	0.58754	M	.	.	.	-2.32	0.54382	N	0.596	0.67391	-0.5390	0.67201	T	0.336	0.70273	T	9	0.39718962	0.55310	T	0.028056	0.50789	D	0.197	0.47942	0.642	0.77903	0.345175991111	0.34120	0.4947836147715056	0.49399	0.203680317947	0.22786	0.664033174515	0.61986	T	0.21914	0.66025	T	0.345049	0.86175	D	0.257863	0.85992	D	0.758107244968414	0.43743	D	0.952005	0.88094	D	0.4227829	0.62276	0.33796772	0.59580	0.4227829	0.62277	0.33796772	0.59579	-6.28	0.48563	T	.	.	0.866	0.84405	P	.;.;.	.;.;.	4.146416	0.62163	24.4	0.99711438997443591	0.81353	0.97968	0.78509	D	AEFBI	0.677347	0.64208	D	0.25259867354802	0.53766	3.544266	0.340834713044124	0.57958	3.963703	0.999996830958607	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.74	4.74	0.59717	4.689000	0.61410	4.459000	0.43452	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.024	0.86315	635	0.64580	Target SNARE coiled-coil homology domain|Target SNARE coiled-coil homology domain|BET1, SNARE domain;.;Target SNARE coiled-coil homology domain|BET1, SNARE domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	86.26	51	chr7	93996297	.	C	G	86.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.586;DP=373;ExcessHet=0.3476;FS=531.337;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=1.1;SOR=9.21	GT:AD:DP:GQ:PL	0/1:49,23:72:49:49,0,749	5	0	2	0
chr7	94910346	94910346	A	G	exonic	PPP1R9A	.	nonsynonymous SNV	PPP1R9A:NM_001166161:exon1:c.A233G:p.N78S,PPP1R9A:NM_001166162:exon1:c.A233G:p.N78S,PPP1R9A:NM_001166163:exon1:c.A233G:p.N78S,PPP1R9A:NM_001166160:exon2:c.A233G:p.N78S,PPP1R9A:NM_017650:exon2:c.A233G:p.N78S	.	421	1095	6	0	0	6	0.00273224	.	.	.	2392041	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.055	0.00589071365289	.	0.000199681	9.915e-05	0	0	0	0	0.0001	0	0.0002	8.41e-05	13	154602	rs569938281	6.362e-05	6.362e-05	4.356e-05	8.388e-05	0.0007	5.295e-05	4.911e-05	0.0002	0.0001	2.987e-05	0	7.652e-05	0	0	0.0007	4.586e-05	0.0002	0.0002	3.94e-05	3.937e-05	2.57e-05	5.371e-05	0.0006	1.714e-05	1.129e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	2.94e-05	0.0005	0.0006	0.374	0.11406	T	0.84	0.03610	T	0.0	0.02946	B	0.0	0.01387	B	0.036192	0.24552	N	0.385523	1	0.08975	N	0.29	0.10111	N	2.58	0.13434	T	-0.42	0.14978	N	0.058	0.08646	-0.9738	0.36387	T	0.011	0.04369	T	9	0.01691711	0.00358	T	0.005891	0.15340	T	0.055	0.15663	0.058	0.00182	0.141422826196	0.13715	0.05467836055173705	0.05409	0.131701140582	0.14851	0.256446897984	0.04476	T	0.03028	0.21502	T	-0.623219	0.00105	T	-0.82844	0.01290	T	0.0625598430633545	0.07567	T	0.861714	0.55578	D	0.021377724	0.00737	0.04201518	0.04908	0.021377724	0.00737	0.04201518	0.04907	-1.695	0.02216	T	.	.	0.049	0.00120	B	.;.;.;.;.;.	.;.;.;.;.;.	0.080795	0.04871	1.459	0.24878314357983372	0.01121	0.05050	0.10838	N	AEFBI	0.063901	0.12377	N	-1.53472940274998	0.01625	0.07108063	-1.53899852451525	0.02052	0.0938404	0.999991806816145	0.74766	0.549168	0.22868	0	0.563428	0.19063	0	0.527494	0.11647	0	0.616125	0.45549	0	.	.	5.51	-7.33	0.01284	-0.173000	0.09844	-1.072000	0.06417	-0.576000	0.04747	0.175000	0.24000	0.000000	0.08366	0.077000	0.17074	0.3283:0.1863:0.4854:0.0	11.030	0.46981	459	0.78817	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	934.49	39	chr7	94910346	.	A	G	934.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.07;DP=235;ExcessHet=0;FS=2.464;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.32;ReadPosRankSum=-1.341;SOR=0.404	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1106	6	0	1	0
chr7	95311568	95311568	A	C	exonic	PON1	.	nonsynonymous SNV	PON1:NM_000446:exon5:c.T380G:p.M127R	.	0	1494	27	1	0	29	0.0096122	.	.	.	2825879	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.296	0.00942209962552	0.0010	0.00259585	0.0019	0.0002	0.0010	0	0.0003	0.0020	0.0022	0.0050	0.0019017	294	154602	rs144390653	0.0018	0.0018	0.0016	0.0020	0.0097	0.0017	0.0017	0.0077	0.0069	0.0005	0.0014	0.0103	0	0.0004	0.0097	0.0015	0.0025	0.0050	0.0017	0.0017	0.0018	0.0015	0.0035	0.0015	0.0014	0.0022	0.0018	0.0001	0	0.0026	0.0127	0	0.0003	0.0068	0.0020	0.0019	0.0035	0.001	0.78490	D	0.001	0.83351	D	0.005	0.12996	B	0.017	0.18140	B	0.000258	0.46924	D	0.186666	0.543587	0.32074	D	0.345	0.11182	N	1.08	0.39401	T	-2.8	0.59226	D	0.492	0.52563	-0.9763	0.35838	T	0.049	0.21065	T	10	0.01312533	0.00279	T	0.009422	0.24693	T	0.296	0.61616	.	.	0.483082108137	0.47938	0.9294117154541827	0.92919	0.237092020328	0.26249	0.308206707239	0.11637	T	0.222563	0.58644	T	-0.369924	0.03598	T	-0.303468	0.44357	T	0.126494515272133	0.15054	T	0.649435	0.26018	T	0.87436265	0.89209	0.82239217	0.89692	0.87436265	0.89211	0.82239217	0.89693	-4.952	0.36314	T	.	.	0.148	0.32804	B	.	.	2.705477	0.35350	19.87	0.9531854933755467	0.26661	0.99234	0.93208	D	AEFI	0.962327	0.98388	D	-0.222739094303376	0.32202	1.81356	-0.0786288753333333	0.36274	2.109002	0.999999694749795	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.88	4.88	0.63131	8.273000	0.89816	11.210000	0.89365	0.756000	0.94297	0.997000	0.40164	0.999000	0.35428	0.051000	0.15275	1.0:0.0:0.0:0.0	14.958	0.70781	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.005051	0.004076	0.014620	0.000000	0.000000	0.006098	0.003788	0.07143	430.49	40	chr7	95311568	.	A	C	430.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.12;DP=213;ExcessHet=0;FS=5.71;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=1.23;SOR=1.863	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1157	6	0	1	0
chr7	95592889	95592889	T	C	exonic	PDK4	.	nonsynonymous SNV	PDK4:NM_002612:exon4:c.A400G:p.M134V	.	437	1034	49	2	0	53	0.0249882	.	.	.	722756	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.249	.	0.0033	0.00858626	0.0067	0.0013	0.0035	0.0001	0.0003	0.0069	0.0089	0.0174	0.0065394	1011	154602	rs144262262	0.0051	0.0051	0.0046	0.0056	0.0397	0.0050	0.0050	0.0355	0.0339	0.0015	0.0047	0.0445	0	0.0004	0.0397	0.0035	0.0081	0.0158	0.0049	0.0049	0.0048	0.0050	0.0161	0.0046	0.0045	0.0133	0.0122	0.0008	0.0077	0.0088	0.0450	0.0002	0.0008	0.0308	0.0044	0.0099	0.0161	0.076	0.34269	T	0.135	0.34124	T	0.565	0.38434	P	0.729	0.55225	P	0.000000	0.84330	D	0.033626	1	0.81001	D	2.135	0.59519	M	1.41	0.33412	T	-3.65	0.69950	D	0.838	0.83371	-0.9886	0.32953	T	0.091	0.34847	T	10	0.015191466	0.00319	T	.	.	.	0.249	0.55752	.	.	0.47290127212	0.46918	0.8276107065165884	0.82719	0.475302677234	0.46711	0.502338647842	0.39154	T	0.492506	0.81643	T	-0.218354	0.18219	T	-0.0734536	0.65379	T	0.0402720909980972	0.03740	T	0.962404	0.85901	D	0.7293651	0.79687	0.6762805	0.80990	0.7293651	0.79689	0.6762805	0.80990	-6.626	0.51251	T	.	.	0.178	0.38836	B	.	.	4.667868	0.74577	26.2	0.97712210610986427	0.35501	0.92415	0.55659	D	AEFGBCI	0.911945	0.87192	D	0.518253502972479	0.68171	5.180456	0.563569092563689	0.72348	5.795517	0.999999999249284	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.54	5.54	0.82907	6.221000	0.72188	7.885000	0.72726	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	15.992	0.80010	889	0.27310	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.025680	0.025253	0.016304	0.070175	0.000000	0.068966	0.009146	0.011364	0.1429	1149.24	102	chr7	95592889	.	T	C	1149.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.26;DP=283;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=-1.255;SOR=0.699	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1241	5	0	2	0
chr7	97006052	97006054	GCA	-	exonic	DLX6	.	nonframeshift deletion	DLX6:NM_005222:exon1:c.75_77del:p.Q44del	.	293	1205	4	0	20	24	0.001657	.	.	.	1606452	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0786	.	0.0075	0.0084	0.0108	0.0103	0.0017	0.0085	0.0130	0.0040	0.0031047	480	154602	rs748226556	0.0003	0.0046	0.0003	0.0004	0.0015	0.0003	0.0003	0.0012	0.0011	0.0015	0.0008	0.0002	0.0007	0.0013	0	0.0002	0.0003	0.0004	0.0003	0.0005	0.0003	0.0003	0.0010	0.0002	0.0002	0.0007	0.0007	0.0010	0	0.0003	0	0	0	0	5.938e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	120.59	41	chr7	97006051	.	GGCA	G	120.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.265;DP=322;ExcessHet=0;FS=1.461;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.59;ReadPosRankSum=0.068;SOR=0.406	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,99,1368	6	0	1	0
chr7	98851507	98851507	T	G	exonic	TMEM130	.	nonsynonymous SNV	TMEM130:NM_001134451:exon5:c.A614C:p.D205A,TMEM130:NM_001134450:exon6:c.A920C:p.D307A,TMEM130:NM_152913:exon6:c.A920C:p.D307A	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	.	0.0011	0.0061901	0.0078	0.0013	0.0484	0.0006	0.0165	0.0030	0.0089	0.0033	0.0072703	1124	154602	rs145989307	0.0029	0.0029	0.0031	0.0027	0.0475	0.0028	0.0028	0.0458	0.0452	0.0005	0.0475	0.0008	0.0010	0.0178	0.0010	0.0005	0.0031	0.0035	0.0045	0.0044	0.0041	0.0048	0.0229	0.0042	0.0041	0.0209	0.0202	0.0013	0.0022	0.0229	0.0014	0.0008	0.0162	0	0.0010	0.0062	0.0025	0.031	0.45039	D	0.129	0.40747	T	0.103	0.29860	B	0.085	0.29395	B	0.037121	0.24440	N	0.394655	1	0.08975	N	2.075	0.57047	M	-0.25	0.67011	T	-1.03	0.27052	N	0.463	0.51226	-0.9879	0.33126	T	0.093	0.35390	T	10	0.0062393546	0.00141	T	.	.	.	0.087	0.25287	.	.	0.633545781819	0.63054	0.441437285070301	0.44060	0.216282985703	0.24154	0.393719613552	0.24193	T	0.060934	0.31519	T	-0.403399	0.02199	T	-0.316461	0.42960	T	0.00268141777118579	0.00028	T	0.562144	0.19728	T	0.034766253	0.03964	0.042509936	0.05079	0.034766253	0.03964	0.042509936	0.05079	-10.153	0.76438	D	.	.	0.120	0.32469	B	.;.;.;.	.;.;.;.	2.600596	0.33751	19.43	0.979059833147637	0.36780	0.03457	0.08605	N	AEFDBI	0.072850	0.14552	N	-0.635733177265275	0.17878	0.923736	-0.657466063600771	0.18029	0.9612872	0.00670121264416257	0.11287	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.16	1.17	0.19998	1.239000	0.32322	1.009000	0.23318	-0.179000	0.10443	0.002000	0.15269	0.013000	0.20296	0.960000	0.51673	0.1547:0.1795:0.16:0.5058	0.921	0.01233	510	0.75209	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1241.46	34	chr7	98851507	.	T	G	1241.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.826;DP=296;ExcessHet=0;FS=1.514;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-1.009;SOR=0.538	GT:AD:DP:GQ:PL	0/1:57,54:111:99:1252,0,1308	6	0	1	0
chr7	98892508	98892508	G	T	exonic	TRRAP	.	nonsynonymous SNV	TRRAP:NM_001244580:exon5:c.G346T:p.V116L,TRRAP:NM_001375524:exon5:c.G346T:p.V116L,TRRAP:NM_003496:exon5:c.G346T:p.V116L	.	432	1087	2	1	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.0106554396092	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs782567000	2.056e-06	2.052e-06	0	4.134e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.002	0.12183	B	0.001	0.08700	B	0.000001	0.84330	D	0.000000	1	0.81001	D	-1.84	0.00272	N	3.66	0.63403	T	0.49	0.02993	N	0.429	0.46835	-0.9102	0.46830	T	0.087	0.33857	T	10	0.14127734	0.26845	T	0.010655	0.27430	T	0.273	0.58883	0.297	0.26202	0.694283568966	0.69165	0.7895633350944651	0.78908	0.889013776502	0.70132	0.852177619934	0.89943	D	0.16893	0.51612	T	0.221105	0.75880	D	0.0798253	0.75566	D	0.426223754882812	0.29921	T	0.890411	0.62412	D	0.34401327	0.56597	0.43398118	0.66933	0.34401327	0.56597	0.43398118	0.66933	-2.499	0.05774	T	0.07665302287741946	0.03520	0.172	0.37727	B	.;.;.;.	.;.;.;.	3.987441	0.58662	24.0	0.68173612189566579	0.08577	0.98581	0.84338	D	AEFBI	0.718670	0.66980	D	-0.286113585724828	0.29684	1.648332	0.0356689555189101	0.41383	2.48539	0.99999610440614	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.97	5.97	0.96935	6.551000	0.73809	11.829000	0.97466	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.413	0.99024	404	0.82510	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	526.44	38	chr7	98892508	.	G	T	526.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.974;DP=234;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=0.389;SOR=0.56	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	6	0	1	0
chr7	99425018	99425018	G	A	exonic	ATP5MF-PTCD1;PTCD1	.	nonsynonymous SNV	PTCD1:NM_015545:exon6:c.C1514T:p.S505F,ATP5MF-PTCD1:NM_001198879:exon7:c.C1661T:p.S554F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	.	0.0042	0.0061901	0.0016	0.0179	0.0007	0	0	2.999e-05	0	6.056e-05	0.0015265	236	154602	rs114157830	0.0005	0.0005	0.0006	0.0004	0.0169	0.0004	0.0004	0.0157	0.0153	0.0169	0.0009	0	0	0	0.0017	8.093e-06	0.0011	4.637e-05	0.0048	0.0048	0.0051	0.0044	0.0168	0.0045	0.0044	0.0158	0.0153	0.0168	0	0.0017	0	0	0	0.0034	2.94e-05	0.0009	0	0.005	0.63226	D	0.004	0.79402	D	0.101	0.32148	B	0.029	0.30945	B	0.150193	0.17994	N	0.633028	0.999997	0.08975	N	1.785	0.46417	L	-0.16	0.65378	T	-3.84	0.72240	D	0.485	0.51940	-0.8199	0.53940	T	0.132	0.44347	T	10	0.0044365525	0.00091	T	.	.	.	0.147	0.38986	.	.	0.698248465636	0.69564	0.5554902043464525	0.56065	0.122675384603	0.13820	0.352527111769	0.18294	T	0.11748	0.43759	T	-0.404041	0.02178	T	-0.338873	0.40472	T	0.0413912996286439	0.03943	T	0.706929	0.31753	T	0.11671954	0.27527	0.16837221	0.38792	0.11671954	0.27527	0.16837221	0.38792	-9.065	0.68114	D	.	.	0.165	0.38587	B	.;.	.;.	2.593035	0.33639	19.40	0.94796206704475572	0.25540	0.87620	0.47219	D	AEFDGBI	0.251273	0.37117	N	-0.134613949866127	0.35891	2.067427	-0.0944141031714175	0.35620	2.063011	0.0240854141956207	0.13554	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.58	3.63	0.40741	3.682000	0.54389	4.328000	0.43018	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:0.0:0.7275:0.2725	14.188	0.65160	400	0.82730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1553.45	34	chr7	99425018	.	G	A	1553.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.63;DP=309;ExcessHet=0;FS=3.203;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=1.01;SOR=0.464	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1151	6	0	1	0
chr7	100098200	100098200	C	T	exonic	MCM7	.	nonsynonymous SNV	MCM7:NM_001278595:exon6:c.G283A:p.V95I,MCM7:NM_182776:exon6:c.G283A:p.V95I,MCM7:NM_005916:exon7:c.G811A:p.V271I	.	435	1082	5	0	0	5	0.00230521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0129791181118	.	.	.	.	.	.	.	.	.	.	.	.	.	rs983730565	5.473e-06	5.472e-06	4.084e-06	6.875e-06	5.974e-05	2.35e-06	1.7e-06	9.89e-06	3.7e-06	5.974e-05	0	3.826e-05	0	0	0	3.597e-06	0	1.159e-05	6.571e-06	6.567e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.152	0.29688	T	0.143	0.36101	T	0.228	0.30509	B	0.083	0.29179	B	0.000077	0.52346	N	0.127997	0.999965	0.52935	D	1.125	0.28843	L	2.86	0.10482	T	-0.57	0.17210	N	0.207	0.26717	-1.0208	0.23454	T	0.021	0.08963	T	10	0.09164488	0.16071	T	0.012979	0.32017	T	0.028	0.06331	0.562	0.68229	0.17948927462	0.17512	0.37921119955267274	0.37836	0.12052743132	0.13571	0.314627617598	0.12606	T	0.135046	0.46664	T	-0.226261	0.17145	T	-0.562785	0.16117	T	0.140801385213249	0.16345	T	0.880312	0.67839	D	0.09379598	0.22037	0.057299353	0.10391	0.09379598	0.22037	0.057299353	0.10391	-4.901	0.38388	T	0.11528185615194625	0.10297	0.075	0.14108	B	.;.;.;.;.	.;.;.;.;.	1.280579	0.16803	12.77	0.96105747475789194	0.28727	0.25857	0.22824	N	AEFDBHCI	0.088696	0.17980	N	-0.732426919456018	0.15115	0.7589248	-0.763633976056603	0.15388	0.8090437	0.999999370099103	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.45	1.33	0.20958	0.531000	0.22759	0.510000	0.19072	-0.257000	0.07002	0.067000	0.21986	0.071000	0.22219	0.484000	0.28656	0.0:0.6998:0.0:0.3002	8.121	0.30130	185	0.92771	.;.;.;MCM OB domain;MCM OB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1416.46	120	chr7	100098200	.	C	T	1416.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.36;DP=307;ExcessHet=0;FS=0.683;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-0.492;SOR=0.804	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr7	100166513	100166525	TGAACCTCATGTG	-	exonic	GAL3ST4	.	frameshift deletion	GAL3ST4:NM_024637:exon3:c.406_418del:p.H136Tfs*2	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.911e-05	0	0	0	0	1.518e-05	0	0.0004	3.84e-05	1	26028	rs759522715	3.766e-05	3.831e-05	2.316e-05	5.231e-05	0.0004	2.962e-05	2.658e-05	0.0003	0.0003	0	2.24e-05	0	0	0	0.0003	1.08e-05	3.314e-05	0.0004	2.627e-05	2.625e-05	2.571e-05	2.686e-05	0.0004	8.14e-06	5.14e-06	7.287e-05	3.028e-05	0	0	0	0	0	0	0	2.941e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1144.23	34	chr7	100166512	.	TTGAACCTCATGTG	T	1144.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.571;DP=237;ExcessHet=0;FS=0.997;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.88;ReadPosRankSum=1.57;SOR=0.527	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1067	5	0	1	1
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2724.34	52	chr7	100175805	.	G	C	2724.34	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.575;DP=381;ExcessHet=11.5949;FS=744.254;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=7.34;ReadPosRankSum=0.751;SOR=9.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,22:70:99:0|1:100175805_G_C:524,0,1877:100175805	0	0	6	1
chr7	100359506	100359506	C	0	exonic	PILRB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1730.04	34	chr7	100359506	.	C	*	1730.04	.	AC=2;AF=0.143;AN=14;DP=419;ExcessHet=0;FS=10.23;MLEAC=2;MLEAF=0.143;MQ=60;QD=6.98;SOR=1.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,76:139:99:.:.:2966,0,2416:.	5	0	2	0
chr7	100399831	100399831	C	T	exonic	PILRA	.	nonsynonymous SNV	PILRA:NM_178272:exon6:c.C617T:p.S206L,PILRA:NM_013439:exon7:c.C836T:p.S279L	.	431	1049	39	3	0	45	0.0209986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	0.0118	0.00559105	0.0113	0.0020	0.0019	0.0001	0.0088	0.0147	0.0067	0.0173	0.0106661	1649	154602	rs34266222	0.0099	0.0099	0.0096	0.0101	0.0176	0.0097	0.0097	0.0169	0.0166	0.0015	0.0022	0.0518	0	0.0092	0.0080	0.0092	0.0113	0.0176	0.0083	0.0083	0.0083	0.0082	0.0160	0.0079	0.0077	0.0131	0.0120	0.0020	0.0022	0.0032	0.0547	0	0.0084	0.0136	0.0109	0.0085	0.0160	0.113	0.91255	T	0.243	0.34837	T	0.053	0.29046	B	0.019	0.30579	B	0.005733	0.32555	N	0.000000	1	0.08975	N	1.355	0.33814	L	0.65	0.52642	T	-1.96	0.45404	N	0.161	0.19995	-1.0669	0.10108	T	0.042	0.17869	T	9	0.0024999976	0.00038	T	.	.	.	0.051	0.14325	.	.	.	.	0.11323491982903096	0.11251	0.176822401337	0.19894	0.318505644798	0.13194	T	0.02106	0.16467	T	-0.536475	0.00352	T	-0.529105	0.19376	T	0.00560833987177457	0.00061	T	0.605339	0.22755	T	0.033658035	0.03627	0.044622328	0.05823	0.033658035	0.03627	0.044622328	0.05823	-3.657	0.18685	T	.	.	0.086	0.10787	B	.;.	.;.	1.285668	0.16857	12.81	0.89942232312080983	0.19239	0.05843	0.11786	N	AEFDBI	0.026036	0.01885	N	-1.08455630630354	0.06927	0.3203013	-1.08829502313267	0.07930	0.3877462	0.96931527846712	0.29119	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.24	2.46	0.29032	0.917000	0.28286	1.313000	0.25551	-0.997000	0.01825	0.035000	0.20724	0.179000	0.23406	0.001000	0.02609	0.1586:0.6712:0.0:0.1703	5.521	0.16222	450	0.79359	.;.	.	.	.	.	rs34266222	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008808	0.000000	0.001359	0.003497	0.000000	0.008621	0.030488	0.015152	0.07143	1706.53	34	chr7	100399831	.	C	T	1706.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.575;DP=314;ExcessHet=0;FS=2.174;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=-0.663;SOR=0.934	GT:AD:DP:GQ:PL	0/1:64,72:136:99:1717,0,1577	6	0	1	0
chr7	100430065	100430065	C	G	exonic	MEPCE	.	nonsynonymous SNV	MEPCE:NM_019606:exon1:c.C47G:p.P16R	.	418	1068	33	3	0	39	0.017931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	.	.	0.00419329	0.0139	0	0	0	.	0.0172	0	.	0.0018176	281	154602	rs199973116	0.0081	0.0072	0.0080	0.0081	0.0098	0.0079	0.0079	0.0089	0.0085	0.0012	0.0032	0.0509	0	0.0083	0.0057	0.0077	0.0090	0.0098	0.0073	0.0073	0.0073	0.0074	0.0098	0.0070	0.0068	0.0092	0.0089	0.0016	0.0022	0.0028	0.0539	0	0.0084	0.0137	0.0098	0.0071	0.0093	0.0	0.91255	D	0.017	0.60337	D	0.745	0.43117	P	0.379	0.43814	B	0.005621	0.32637	N	0.258875	0.963578	0.81001	D	0.805	0.20218	L	.	.	.	-0.91	0.24460	N	0.331	0.37197	-0.9652	0.38171	T	0.095	0.35924	T	9	0.0018439889	0.00025	T	.	.	.	0.157	0.40909	.	.	.	.	0.26793003146708916	0.26706	2.17442915589	0.95526	0.828219890594	0.86290	D	0.018325	0.14790	T	-0.293152	0.09323	T	-0.180895	0.56441	T	0.254844997344268	0.23088	T	0.705929	0.31637	T	0.48726183	0.66339	0.64499366	0.79246	0.48726183	0.66340	0.64499366	0.79247	-5.444	0.41340	T	.	.	0.215	0.44410	B	.	.	4.713673	0.75756	26.4	0.99648057004549251	0.77130	0.94441	0.61176	D	ALL	0.384185	0.46541	N	0.124235174134317	0.47594	2.983037	0.250858761020688	0.52699	3.44294	0.999999999996069	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	5.0	5.0	0.66209	3.119000	0.50115	7.453000	0.58980	0.520000	0.23804	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	13.784	0.62585	463	0.78548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005325	0.000000	0.003390	0.000000	0.000000	0.000000	0.014388	0.014019	0.07143	441.63	17	chr7	100430065	.	C	G	441.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.433;DP=143;ExcessHet=0;FS=3.127;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=2.31;SOR=0.99	GT:AD:DP:GQ:PL	0/1:14,20:34:99:452,0,295	6	0	1	0
chr7	100430206	100430206	C	T	exonic	MEPCE	.	nonsynonymous SNV	MEPCE:NM_019606:exon1:c.C188T:p.A63V	.	425	1092	4	1	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00505467191084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.725e-06	2.736e-06	0	3.605e-06	2.071e-06	2.9e-07	1.1e-07	3.4e-07	1.3e-07	0	0	0	0	0	0	2.071e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.572	0.06145	T	0.444	0.13177	T	0.0	0.02946	B	0.001	0.04355	B	0.304353	0.03974	N	1.742030	1	0.28795	N	0	0.06538	N	.	.	.	0.07	0.06138	N	0.148	0.15046	-1.0286	0.20908	T	0.062	0.25923	T	9	0.052541584	0.05304	T	0.005055	0.12784	T	0.020	0.03691	0.262	0.20631	0.082315109003	0.07666	0.20437632182995674	0.20354	0.957395983082	0.72880	0.721860766411	0.70317	T	0.015486	0.12979	T	-0.236631	0.15781	T	-0.577681	0.14752	T	0.0343897779164464	0.02704	T	0.451055	0.12757	T	0.026991494	0.01829	0.045151222	0.06010	0.026991494	0.01828	0.045151222	0.06010	-5.429	0.41197	T	.	.	0.093	0.14108	B	.	.	0.841900	0.12137	8.686	0.91206762212239345	0.20463	0.35774	0.25380	N	ALL	0.043490	0.06880	N	-1.18481983704941	0.05229	0.237897	-1.17150886380918	0.06390	0.3074245	0.999999999980371	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	4.08	2.25	0.27340	0.262000	0.18229	2.012000	0.30169	-0.286000	0.06345	0.000000	0.06391	0.014000	0.20376	0.000000	0.00833	0.0:0.7808:0.0:0.2192	7.178	0.24932	463	0.78548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	230.84	32	chr7	100430206	.	C	T	230.84	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.701;DP=162;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.21;ReadPosRankSum=-0.557;SOR=0.757	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,982	6	0	1	0
chr7	100600615	100600615	C	T	exonic	FBXO24	.	nonsynonymous SNV	FBXO24:NM_001163499:exon10:c.C1423T:p.P475S,FBXO24:NM_012172:exon10:c.C1573T:p.P525S,FBXO24:NM_033506:exon10:c.C1459T:p.P487S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00561976298177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.706	0.05436	T	0.142	0.33330	T	0.0	0.02946	B	0.0	0.01387	B	0.874852	0.08798	N	0.928067	1	0.08975	N	-0.55	0.02420	N	2.61	0.13095	T	0.37	0.06612	N	0.042	0.03841	-0.9481	0.41296	T	0.010	0.03492	T	10	0.061481148	0.07716	T	0.00562	0.14530	T	0.038	0.09825	0.322	0.30226	0.238096912614	0.23440	0.2424141499251971	0.24155	0.324307487703	0.34596	0.281518369913	0.07705	T	0.008944	0.08179	T	-0.372168	0.03486	T	-0.77237	0.02691	T	0.0345776158772276	0.02735	T	0.530047	0.17581	T	0.025262954	0.01445	0.035651606	0.02858	0.025262954	0.01444	0.035651606	0.02858	-2.963	0.10213	T	.	.	0.067	0.02518	B	.;.;.	.;.;.	0.110685	0.05102	1.635	0.4261040687661124	0.03153	0.01156	0.04174	N	AEFDGBHCI	0.039119	0.05636	N	-1.64576967374373	0.01053	0.04568766	-1.67791211091846	0.01238	0.05579344	0.999999613348979	0.74766	0.696267	0.57585	0	0.61073	0.52368	0	0.691665	0.62940	0	0.638833	0.57524	0	.	.	4.44	-5.49	0.02381	-0.337000	0.07898	0.145000	0.15222	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.2742:0.2356:0.2165:0.2738	0.069	0.00018	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1233.49	40	chr7	100600615	.	C	T	1233.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.28;DP=296;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.991;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1272	6	0	1	0
chr7	100613631	100613631	G	C	exonic	MOSPD3	.	nonsynonymous SNV	MOSPD3:NM_001040099:exon3:c.G406C:p.G136R,MOSPD3:NM_023948:exon3:c.G436C:p.G146R,MOSPD3:NM_001040097:exon4:c.G436C:p.G146R,MOSPD3:NM_001040098:exon4:c.G436C:p.G146R,MOSPD3:NM_001363415:exon4:c.G436C:p.G146R,MOSPD3:NM_001363416:exon4:c.G436C:p.G146R	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00464972261195	0.0008	0.000798722	0.0013	0	0.0003	0	0.0002	0.0021	0.0011	0.0008	0.0012613	195	154602	rs137921044	0.0011	0.0011	0.0011	0.0012	0.0043	0.0011	0.0010	0.0030	0.0026	0.0002	0.0004	0.0003	0	0.0002	0.0043	0.0013	0.0012	0.0010	0.0008	0.0008	0.0007	0.0009	0.0015	0.0007	0.0006	0.0010	0.0009	0.0003	0	0.0015	0	0	9.422e-05	0.0068	0.0010	0.0043	0.0004	0.095	0.31235	T	0.204	0.27235	T	0.392	0.34646	B	0.265	0.39681	B	0.228109	0.15983	N	0.562918	0.995363	0.43707	D	0	0.06538	N	.	.	.	-1.96	0.45404	N	0.466	0.50237	-1.0458	0.15592	T	0.116	0.41097	T	9	0.009234905	0.00209	T	0.00465	0.11534	T	0.086	0.25016	0.128	0.03331	0.416202232284	0.41236	0.3452238182820563	0.34436	0.761597943512	0.64286	0.649458944798	0.59909	T	0.192928	0.54824	T	-0.335457	0.05709	T	-0.267867	0.48035	T	0.0182981109104174	0.00549	T	0.858514	0.54939	D	0.12973379	0.30292	0.14189322	0.33776	0.12973379	0.30292	0.14189322	0.33775	-3.185	0.14695	T	.	.	0.159	0.36908	B	.;.;.;.;.	.;.;.;.;.	3.095149	0.41689	21.4	0.9951831737054706	0.69100	0.81012	0.40509	D	AEFGBCI	0.731940	0.67885	D	0.0762909080252874	0.45358	2.793705	0.176137047585506	0.48542	3.068813	0.999999984665784	0.74766	0.706298	0.61202	0	0.662677	0.63036	0	0.709663	0.75317	0	0.651492	0.60203	0	.	.	4.12	4.12	0.47504	2.644000	0.46279	9.207000	0.79216	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.0:0.0:1.0:0.0	14.691	0.68694	702	0.57624	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	797.27	37	chr7	100613631	.	G	C	797.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.918;DP=245;ExcessHet=0;FS=5.772;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=0.126;SOR=0.225	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1147	5	0	1	1
chr7	100763864	100763864	A	G	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon21:c.A4045G:p.M1349V,ZAN:NM_173059:exon21:c.A4045G:p.M1349V	.	415	1067	37	3	0	43	0.019752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0002	0.00239617	0.0014	0.0002	0.0008	0	0	0.0005	0.0056	0.0073	0.0011966	185	154602	rs202222365	0.0007	0.0007	0.0005	0.0010	0.0075	0.0007	0.0007	0.0070	0.0068	2.987e-05	0.0006	0.0031	5.038e-05	1.873e-05	0.0061	0.0002	0.0014	0.0075	0.0005	0.0005	0.0003	0.0007	0.0068	0.0004	0.0004	0.0050	0.0044	0	0	0.0002	0.0026	0	0	0.0068	0.0005	0.0005	0.0068	.	.	.	0.016	0.60972	D	0.004	0.12183	B	0.006	0.12133	B	0.031058	0.25222	N	0.196730	1	0.23540	N	1.295	0.32453	L	2.62	0.12988	T	-1.79	0.42191	N	0.133	0.13484	-1.0263	0.21658	T	0.021	0.08963	T	10	0.00492242	0.00105	T	.	.	.	0.015	0.02232	.	.	0.0138822411134	0.00435	0.30390041415835306	0.30303	0.0703975186473	0.07888	0.292375028133	0.09269	T	0.022717	0.17466	T	-0.517151	0.00457	T	-0.510642	0.21250	T	0.0337059371202909	0.02588	T	0.633437	0.24778	T	0.109571084	0.25905	0.18297595	0.41258	0.109571084	0.25904	0.18297595	0.41257	-1.173	0.01530	T	.	.	0.076	0.05935	B	.;.;.;.	.;.;.;.	-0.062054	0.03872	0.842	0.60419833298687775	0.06459	0.01038	0.03882	N	AEFDGBIJ	0.061629	0.11794	N	-1.00259693039508	0.08550	0.401294	-1.07129840775714	0.08269	0.4058369	0.999874585204791	0.44625	0.119485	0.03058	0	0.085267	0.02369	0	0.134018	0.03721	0	0.062806	0.01542	0	.	.	4.33	-0.389	0.11835	-0.413000	0.07188	-0.019000	0.12951	0.750000	0.87069	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.2271:0.5354:0.1194:0.1181	3.303	0.06579	699	0.57969	von Willebrand factor, type D domain|Uncharacterised domain, cysteine-rich;von Willebrand factor, type D domain|Uncharacterised domain, cysteine-rich;von Willebrand factor, type D domain|Uncharacterised domain, cysteine-rich;von Willebrand factor, type D domain|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.007576	0.07143	564.44	36	chr7	100763864	.	A	G	564.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.602;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.73;ReadPosRankSum=0.188;SOR=0.703	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	6	0	1	0
chr7	100768641	100768641	C	A	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon27:c.C5073A:p.N1691K,ZAN:NM_173059:exon27:c.C5073A:p.N1691K	.	355	1129	37	1	0	39	0.0169787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	.	.	0.00239617	0.0017	0.0003	0.0012	0	0	0.0006	0.0062	0.0086	0.0011061	171	154602	rs200886020	0.0007	0.0007	0.0005	0.0009	0.0074	0.0007	0.0006	0.0069	0.0067	2.992e-05	0.0006	0.0031	2.525e-05	0	0.0063	0.0001	0.0014	0.0074	0.0005	0.0005	0.0003	0.0007	0.0068	0.0004	0.0004	0.0050	0.0044	0	0	0.0002	0.0026	0	0	0.0068	0.0005	0.0005	0.0068	.	.	.	0.079	0.42086	T	0.999	0.77913	D	0.958	0.70027	D	0.028039	0.25665	N	0.277746	0.999497	0.21100	N	2.175	0.60977	M	0.27	0.59176	T	-3.69	0.70432	D	0.375	0.46835	-0.8721	0.50371	T	0.241	0.60917	T	10	0.00919354	0.00208	T	.	.	.	0.110	0.31079	0.6	0.73105	0.416075642716	0.41223	0.6134464291473529	0.61276	0.0789487963892	0.08884	0.344711124897	0.17139	T	0.047355	0.27697	T	-0.357163	0.04293	T	-0.281532	0.46648	T	0.0956447118229659	0.11871	T	0.70043	0.31009	T	0.067272946	0.14551	0.11275833	0.27210	0.067272946	0.14551	0.11275833	0.27209	-9.285	0.69513	D	.	.	0.344	0.56145	A	.;.;.;.	.;.;.;.	1.503816	0.19327	14.21	0.90094034460398087	0.19377	0.22775	0.21859	N	AEFDBI	0.246495	0.36724	N	-0.202817572994107	0.33019	1.868593	-0.388745786694531	0.25331	1.39241	1.12601365556767E-4	0.05269	0.06567	0.01388	0	0.085267	0.02369	0	0.060301	0.00762	0	0.058706	0.01089	0	.	.	4.77	1.58	0.22557	-0.304000	0.08238	-2.800000	0.03348	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.296000	0.24405	0.0:0.6443:0.0:0.3557	6.947	0.23704	700	0.57880	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.011364	0.07143	632.45	36	chr7	100768641	.	C	A	632.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.23;DP=536;ExcessHet=0;FS=3.41;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.481;SOR=0.921	GT:AD:DP:GQ:PL	0/0:119,0:119:99:0,120,1800	6	0	1	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1021.11	81	chr7	100773851	.	A	*	1021.11	.	AC=5;AF=0.357;AN=14;DP=423;ExcessHet=0.0509;FS=2.771;MLEAC=5;MLEAF=0.357;MQ=60;QD=3.04;SOR=0.878	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,108,1620:.	3	1	3	0
chr7	100773854	100773854	G	0	exonic	ZAN	.	.	.	.	428	134	463	356	141	1316	0.814276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	7523.85	81	chr7	100773854	.	G	*	7523.85	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.191;DP=415;ExcessHet=0.0509;FS=2.784;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=22.59;ReadPosRankSum=0.979;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,108,1620:.	6	0	1	0
chr7	100779637	100779637	T	C	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon35:c.T6509C:p.L2170P,ZAN:NM_173059:exon35:c.T6509C:p.L2170P	.	416	1103	3	0	0	3	0.00135808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.435	0.0377026232165	0.0017	0.00159744	0.0022	0.0005	0.0034	0	0	0.0033	0.0026	0.0007	0.0014165	219	154602	rs200445201	0.0025	0.0025	0.0025	0.0025	0.0030	0.0024	0.0024	0.0029	0.0028	0.0004	0.0016	0.0002	0	0.0005	0.0005	0.0030	0.0022	0.0007	0.0016	0.0016	0.0017	0.0014	0.0026	0.0014	0.0013	0.0023	0.0022	0.0005	0	0.0019	0.0014	0	0.0005	0	0.0026	0.0014	0.0004	.	.	.	0.043	0.50226	D	0.995	0.67487	D	0.954	0.69447	D	0.085848	0.20619	N	0.227351	0.999577	0.47641	D	.	.	.	.	.	.	.	.	.	0.648	0.74826	0.101	0.84200	D	0.569	0.84381	D	8	0.10350874	0.19032	T	0.037703	0.57781	D	0.435	0.74022	.	.	0.154104182512	0.14974	0.868534103402236	0.86818	0.11157287078	0.12596	0.353435486555	0.18427	T	0.143187	0.47918	T	-0.054918	0.43696	T	0.146548	0.79966	D	0.154377065536279	0.17447	T	0.517648	0.16760	T	0.42120755	0.62172	0.51485413	0.71968	0.42120755	0.62172	0.51485413	0.71968	-9.149	0.68651	D	.	.	0.635	0.70329	P	.;.;.;.	.;.;.;.	3.006094	0.40184	21.1	0.98276328675351599	0.39814	0.92232	0.55241	D	AEFBI	0.702745	0.65901	D	0.325512044734291	0.57460	3.913542	0.248544819340018	0.52566	3.430699	0.00724413297462812	0.11420	0.06567	0.01388	0	0.059962	0.00310	0	0.044551	0.00207	1	0.075334	0.01956	0	.	.	4.17	4.17	0.48303	5.534000	0.66879	2.705000	0.34191	0.661000	0.55757	1.000000	0.71638	0.999000	0.35428	0.162000	0.20715	0.0:0.0:0.0:1.0	9.928	0.40672	684	0.59539	Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.07143	927.46	33	chr7	100779637	.	T	C	927.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.21;DP=300;ExcessHet=0;FS=0.928;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-1.045;SOR=0.866	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	6	0	1	0
chr7	100779666	100779666	C	T	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon35:c.C6538T:p.L2180F,ZAN:NM_173059:exon35:c.C6538T:p.L2180F	.	414	1084	24	0	0	24	0.0109489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.01989167839	0.0007	0.000998403	0.0031	0	0	0	0.0010	0.0036	0	0.0048	0.0013001	201	154602	rs368183208	0.0014	0.0014	0.0012	0.0015	0.0088	0.0013	0.0013	0.0068	0.0061	0.0002	0.0005	0.0003	0	0.0002	0.0088	0.0013	0.0017	0.0045	0.0009	0.0009	0.0007	0.0011	0.0025	0.0008	0.0007	0.0014	0.0011	0.0003	0	0.0016	0	0	9.413e-05	0.0136	0.0011	0.0038	0.0025	.	.	.	0.091	0.40426	T	0.907	0.50062	P	0.642	0.52168	P	0.650508	0.10517	N	0.773450	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.095	0.08646	-0.5645	0.66231	T	0.379	0.73640	T	9	0.049238354	0.04484	T	0.019892	0.42364	T	0.283	0.60100	.	.	0.0401082797425	0.02173	0.6052475545878986	0.60455	0.0746738777092	0.08380	0.309243559837	0.11792	T	0.126171	0.45237	T	-0.328308	0.06241	T	-0.243964	0.50411	T	0.102104824956605	0.12587	T	0.569643	0.20265	T	0.046199527	0.07691	0.06566402	0.13342	0.046199527	0.07691	0.06566402	0.13342	-7.077	0.57491	T	.	.	0.107	0.20235	B	.;.;.;.	.;.;.;.	1.834756	0.23309	15.97	0.99104606594449074	0.52572	0.28562	0.23588	N	AEFBI	0.068160	0.13433	N	-0.216513731733043	0.32457	1.830584	-0.335393843403519	0.26965	1.493027	8.95811513548799E-6	0.01202	0.06567	0.01388	0	0.059962	0.00310	0	0.044551	0.00207	1	0.075334	0.01956	0	.	.	4.17	2.29	0.27658	1.386000	0.34025	0.521000	0.19165	-0.175000	0.10903	0.892000	0.31242	0.087000	0.22477	0.020000	0.11549	0.2413:0.6457:0.0:0.113	4.804	0.12677	684	0.59539	Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006566	0.005051	0.006793	0.014881	0.000000	0.000000	0.003067	0.007576	0.07143	1118.46	33	chr7	100779666	.	C	T	1118.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.513;DP=297;ExcessHet=0;FS=0.727;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.559;SOR=0.85	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	6	0	1	0
chr7	100784727	100784727	G	C	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon36:c.G6727C:p.A2243P,ZAN:NM_173059:exon36:c.G6727C:p.A2243P	.	417	1067	37	1	0	39	0.0179475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.473	.	0.0002	0.00239617	0.0014	0.0002	0.0008	0	0	0.0005	0.0056	0.0075	0.0011837	183	154602	rs201907411	0.0007	0.0007	0.0005	0.0010	0.0075	0.0007	0.0007	0.0071	0.0069	2.987e-05	0.0006	0.0031	2.519e-05	0	0.0062	0.0001	0.0014	0.0075	0.0005	0.0005	0.0003	0.0007	0.0068	0.0004	0.0004	0.0050	0.0044	0	0	0.0003	0.0026	0	0	0.0068	0.0005	0.0005	0.0068	.	.	.	0.175	0.32040	T	0.934	0.52202	P	0.726	0.55126	P	0.048143	0.01982	N	2.533840	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.196	0.24135	-0.0814	0.80523	T	0.652	0.87889	D	9	0.025876224	0.00769	T	.	.	.	0.473	0.76619	.	.	0.0611884634855	0.05136	0.3031290985180632	0.30225	0.0886726636444	0.10026	0.220651835203	0.01348	T	0.083485	0.37065	T	-0.316908	0.07154	T	-0.222866	0.52461	T	0.0646765785142323	0.07882	T	0.723028	0.33655	T	0.09228847	0.21646	0.10416697	0.25011	0.09228847	0.21645	0.10416697	0.25011	-2.966	0.14100	T	.	.	0.102	0.17785	B	.;.;.;.	.;.;.;.	1.096425	0.14803	11.34	0.91590322418489312	0.20871	0.02306	0.06624	N	AEFDHI	0.053774	0.09720	N	-0.867652622141759	0.11619	0.5616561	-1.11627097694866	0.07389	0.3592259	0.9796870116248	0.30054	0.119485	0.03058	0	0.059962	0.00310	0	0.134018	0.03721	0	0.075334	0.01956	0	.	.	4.24	-7.18	0.01354	-0.757000	0.04877	-2.321000	0.03903	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.163000	0.20749	0.1913:0.0:0.5355:0.2731	6.816	0.23017	697	0.58201	Trypsin Inhibitor-like, cysteine rich domain|EGF-like domain;Trypsin Inhibitor-like, cysteine rich domain|EGF-like domain;Trypsin Inhibitor-like, cysteine rich domain|EGF-like domain;Trypsin Inhibitor-like, cysteine rich domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.011364	0.07143	1712.46	33	chr7	100784727	.	G	C	1712.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.718;DP=299;ExcessHet=0;FS=1.472;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=-0.675;SOR=0.854	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1329	6	0	1	0
chr7	100787922	100787922	G	A	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon38:c.G7013A:p.R2338H,ZAN:NM_173059:exon38:c.G7013A:p.R2338H	.	424	1062	35	1	0	37	0.0171217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	.	0.0002	0.00239617	0.0016	0.0002	0.0008	0.0005	0	0.0005	0.0063	0.0100	0.0012872	199	154602	rs199598152	0.0008	0.0008	0.0005	0.0011	0.0086	0.0007	0.0007	0.0081	0.0078	3.028e-05	0.0007	0.0034	0.0002	0	0.0075	0.0002	0.0015	0.0086	0.0006	0.0006	0.0003	0.0008	0.0073	0.0005	0.0004	0.0054	0.0047	0	0	0.0003	0.0027	0.0002	0	0.0072	0.0005	0.0010	0.0073	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.230964	0.15921	N	0.552996	0.999656	0.20771	N	.	.	.	.	.	.	.	.	.	0.09	0.07949	-1.0190	0.24041	T	0.040	0.17020	T	9	0.022127837	0.00545	T	.	.	.	0.372	0.69102	.	.	0.0297737177859	0.01360	0.7751872977740802	0.77468	0.0849059257558	0.09594	0.222604453564	0.01465	T	0.005068	0.04506	T	-0.112029	0.34435	T	0.0732665	0.75128	D	0.0352798235415309	0.02857	T	0.470053	0.13899	T	0.035594486	0.04218	0.04065576	0.04443	0.035594486	0.04217	0.04065576	0.04442	2.445	0.00035	T	.	.	0.059	0.00820	B	.;.;.;.	.;.;.;.	-0.413719	0.02162	0.210	0.40282737763205345	0.02833	0.05994	0.11957	N	AEFBI	0.046315	0.07678	N	-1.02626804236301	0.08061	0.3766705	-0.932325711519789	0.11334	0.5767601	1.84741990470518E-6	0.01202	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.058706	0.01089	0	.	.	4.63	0.676	0.17125	1.045000	0.29951	0.670000	0.20585	-1.868000	0.00555	0.965000	0.33920	0.012000	0.20211	0.012000	0.09680	0.568:0.1817:0.0944:0.1559	1.912	0.03090	698	0.58074	von Willebrand factor, type D domain|von Willebrand factor, type D domain|VWFC domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|VWFC domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|VWFC domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|VWFC domain|von Willebrand factor, type D domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003030	0.000000	0.005435	0.000000	0.000000	0.000000	0.003086	0.011450	0.07143	397.63	34	chr7	100787922	.	G	A	397.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.421;DP=231;ExcessHet=0;FS=1.216;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=1.49;SOR=0.4	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1184	6	0	1	0
chr7	100805509	100805509	C	A	exonic	EPHB4	.	nonsynonymous SNV	EPHB4:NM_004444:exon15:c.G2670T:p.E890D	.	377	1137	8	0	0	8	0.0035057	.	.	.	699702	Cardiovascular_phenotype|not_provided	MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.143	0.0182051889826	0.0067	0.00259585	0.0064	0.0019	0.0049	0	0.0021	0.0091	0.0051	0.0032	0.0060931	942	154602	rs35638378	0.0078	0.0076	0.0078	0.0078	0.0091	0.0077	0.0076	0.0090	0.0089	0.0014	0.0046	0.0036	0	0.0018	0.0031	0.0091	0.0068	0.0024	0.0053	0.0053	0.0058	0.0049	0.0092	0.0050	0.0049	0.0086	0.0084	0.0019	0.0044	0.0039	0.0023	0	0.0012	0	0.0092	0.0047	0.0025	0.587	0.05862	T	0.625	0.07316	T	0.002	0.09854	B	0.007	0.12992	B	0.002303	0.36806	N	0.120844	0.958929	0.27374	N	0.515	0.13537	N	-1.01	0.76168	T	-0.48	0.15379	N	0.175	0.23125	-1.0193	0.23943	T	0.116	0.41053	T	10	0.0047655404	0.00101	T	0.018205	0.40197	T	0.143	0.38195	0.084	0.00795	0.348910101417	0.34498	0.5132118340668567	0.51243	0.427416486796	0.43086	0.637738883495	0.58243	T	0.070282	0.33921	T	-0.476236	0.00778	T	-0.450034	0.27695	T	0.00490450620202404	0.00053	T	0.678032	0.38090	T	0.066324286	0.14260	0.036866106	0.03221	0.060663726	0.12474	0.036866106	0.03220	-4.037	0.24355	T	0.15417632825612199	0.18394	0.072	0.04198	B	.;.	.;.	1.938419	0.24623	16.46	0.94408735287075107	0.24805	0.88769	0.48857	D	AEFBI	0.469604	0.51591	N	-0.785332829041428	0.13692	0.6763073	-0.587351136346425	0.19823	1.06526	0.992766636690714	0.32960	0.722319	0.85440	0	0.588066	0.40923	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	5.28	2.33	0.27981	0.102000	0.15108	2.239000	0.31595	-0.186000	0.09761	0.680000	0.28438	1.000000	0.68203	0.973000	0.55318	0.0:0.5648:0.1653:0.2699	4.403	0.10825	650	0.62973	Sterile alpha motif domain;Protein kinase domain	.	.	.	.	rs35638378	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.000000	0.008152	0.002924	0.000000	0.000000	0.006098	0.011364	0.07143	70.44	37	chr7	100805509	.	C	A	70.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1146	6	0	1	0
chr7	100865320	100865320	C	T	exonic	SLC12A9	.	nonsynonymous SNV	SLC12A9:NM_001267812:exon14:c.C1892T:p.S631L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.285534433061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	1	0.24070	N	.	.	.	-2.48	0.89071	D	-1.44	0.35399	N	0.126	0.11912	-0.0870	0.80395	T	0.649	0.87785	D	6	0.13564268	0.25810	T	0.285534	0.90383	D	0.190	0.46781	0.412	0.44887	0.733205772316	0.73082	.	.	.	.	.	.	.	.	.	.	-0.0963921	0.37022	T	-0.376237	0.36161	T	0.0798595895098504	0.09969	T	0.510949	0.16331	T	.	.	.	.	.	.	.	.	-3.098	0.11273	T	.	.	0.136	0.29477	B	.	.	0.378290	0.07505	4.147	0.98465726038271961	0.41791	0.08964	0.14811	N	AEFDGBCI	0.035316	0.04525	N	-0.400857813704382	0.25440	1.380961	-0.565079611142381	0.20406	1.09927	0.999994148883494	0.74766	0.600919	0.35232	0	0.601575	0.49859	0	0.576033	0.28219	0	0.620204	0.46100	0	.	.	2.79	2.79	0.31792	0.592000	0.23685	-0.844000	0.07205	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.019000	0.11356	0.0:1.0:0.0:0.0	9.286	0.36918	706	0.57215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1512.49	42	chr7	100865320	.	C	T	1512.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.695;DP=326;ExcessHet=0;FS=3.097;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=-0.606;SOR=0.963	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1201	6	0	1	0
chr7	100894064	100894064	C	T	exonic	ACHE	.	nonsynonymous SNV	ACHE:NM_000665:exon2:c.G169A:p.G57R,ACHE:NM_001282449:exon2:c.G169A:p.G57R,ACHE:NM_001302621:exon2:c.G169A:p.G57R,ACHE:NM_001302622:exon2:c.G169A:p.G57R,ACHE:NM_001367915:exon2:c.G169A:p.G57R,ACHE:NM_001367917:exon2:c.G169A:p.G57R,ACHE:NM_001367918:exon2:c.G370A:p.G124R,ACHE:NM_001367919:exon2:c.G367A:p.G123R	.	412	1067	43	0	0	43	0.019752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	.	0.0002	0.00279553	0.0027	0.0004	0.0010	0	0	0.0007	0.0055	0.0202	0.0016494	255	154602	rs17234982	0.0010	0.0010	0.0007	0.0014	0.0119	0.0010	0.0010	0.0113	0.0110	0.0002	0.0008	0.0032	2.564e-05	3.942e-05	0.0076	0.0002	0.0017	0.0119	0.0006	0.0006	0.0004	0.0009	0.0098	0.0005	0.0005	0.0075	0.0068	0.0001	0	0.0003	0.0026	0.0002	0	0.0102	0.0004	0.0005	0.0098	0.022	0.52492	D	0.096	0.43913	T	0.002	0.30128	B	0.003	0.18489	B	0.001147	0.40056	N	0.245457	0.704821	0.33458	D	1.965	0.53209	M	1.8	0.67712	T	-2.36	0.60348	N	0.167	0.18239	-0.5933	0.65089	T	0.208	0.56785	T	10	0.0068814754	0.00156	T	.	.	.	0.081	0.23632	0.563	0.68364	0.546031525495	0.54257	0.6927882717497722	0.69218	1.03449336938	0.75540	0.579440712929	0.50007	T	0.451139	0.79198	T	-0.412736	0.01907	T	-0.353967	0.38750	T	0.0122342248694521	0.00197	T	0.79922	0.45429	T	0.20889196	0.43139	0.18832691	0.42117	0.20889196	0.43139	0.18832691	0.42116	-4.196	0.26722	T	.	.	0.176	0.40683	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.943997	0.39155	20.9	0.9778311975879791	0.35951	0.38872	0.26086	N	AEFDBCI	.	.	.	-0.606435506937808	0.18750	0.9759664	-0.641157075341141	0.18441	0.9850975	0.999997511312859	0.74766	0.608746	0.35421	0	0.627608	0.54475	0	0.61531	0.40942	0	0.562822	0.20929	0	.	.	4.85	3.97	0.45241	1.756000	0.38018	6.006000	0.52567	0.599000	0.40250	0.005000	0.17040	1.000000	0.68203	0.158000	0.20581	0.1779:0.7276:0.0:0.0944	6.530	0.21518	708	0.56926	Carboxylesterase, type B;.;Carboxylesterase, type B;.;Carboxylesterase, type B;Carboxylesterase, type B;Carboxylesterase, type B;.;Carboxylesterase, type B	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.011364	0.07143	228.45	34	chr7	100894064	.	C	T	228.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.526;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.46;ReadPosRankSum=0.198;SOR=0.627	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1417	6	0	1	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1756.07	430	chr7	100952945	.	C	*	1756.07	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.443;DP=3462;ExcessHet=14.2834;FS=0;MLEAC=5;MLEAF=0.357;MQ=58.69;MQRankSum=-8.839;QD=0.51;ReadPosRankSum=1.96;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:473,172:751:99:0|1:100952942_T_G:5798,0,19343:100952942	2	0	5	0
chr7	100953071	100953071	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1292T:p.S431F	.	416	1044	62	0	0	62	0.0288372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.386e-06	0.0028	3.574e-06	5.169e-06	4.765e-06	1.29e-06	9.3e-07	1.12e-06	7.5e-07	0	0	0	0	2.69e-05	0	4.765e-06	0	0	0	0.0042	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.07811	.	.	.	.	.	.	.	0.0868344	0.14800	T	.	.	.	.	.	.	.	.	.	0.019857046747126048	0.01938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475152	0.14192	T	.	.	.	.	.	.	.	.	-7.542	0.57905	D	.	.	0.254	0.48827	B	.;.	.;.	0.947004	0.13229	9.730	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337000	0.19582	-1.142000	0.06206	0.529000	0.24592	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	35.23	522	chr7	100953071	.	C	T	35.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.171;DP=3997;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=57.29;MQRankSum=0.852;QD=1.17;ReadPosRankSum=-1.212;SOR=1.138	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:908,0:908:99:.:.:0,120,1800:.	5	0	1	1
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2524.47	366	chr7	100953156	.	C	*	2524.47	.	AC=5;AF=0.357;AN=14;BaseQRankSum=5.53;DP=2898;ExcessHet=14.2834;FS=12.235;MLEAC=5;MLEAF=0.357;MQ=57.21;MQRankSum=-14.31;QD=0.88;ReadPosRankSum=-1.217;SOR=1.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:484,158:717:99:0|1:100953098_G_C:5177,0,19847:100953098	2	0	5	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1571.47	359	chr7	100953158	.	G	*	1571.47	.	AC=5;AF=0.357;AN=14;BaseQRankSum=3.2;DP=2855;ExcessHet=14.2834;FS=12.608;MLEAC=5;MLEAF=0.357;MQ=57.2;MQRankSum=-14.61;QD=0.57;ReadPosRankSum=-1.192;SOR=1.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:484,146:705:99:.:.:4674,0,19884:.	2	0	5	0
chr7	100953490	100953490	G	0	exonic	MUC3A	.	.	.	.	745	492	219	17	49	302	0.204527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	12099.8	666	chr7	100953490	.	G	*	12099.8	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.506;DP=5156;ExcessHet=8.2628;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.2;MQRankSum=-14.56;QD=2.89;ReadPosRankSum=6.71;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:892,0:1021:99:0|1:100953486_C_A:2706,5391,42846:100953486	6	0	1	0
chr7	100953494	100953494	C	0	exonic	MUC3A	.	.	.	.	798	546	139	16	23	194	0.135392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1169.06	654	chr7	100953494	.	C	*	1169.06	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.061;DP=5142;ExcessHet=2.5225;FS=0.783;MLEAC=2;MLEAF=0.143;MQ=57.15;MQRankSum=-6.171;QD=0.47;ReadPosRankSum=-1.281;SOR=0.62	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:999,0:999:99:.:.:0,120,1800:.	5	0	2	0
chr7	100953548	100953548	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1769T:p.T590I	.	874	413	160	24	51	259	0.201161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357514460	0.0006	0.0062	0.0004	0.0007	0.0021	0.0005	0.0005	0.0013	0.0010	0.0003	0.0006	0.0002	4.417e-05	0.0005	0.0006	0.0006	0.0004	0.0021	2.746e-05	0.0091	1.343e-05	4.212e-05	0.0004	8.42e-06	5.33e-06	7.232e-05	3.008e-05	0	0	6.811e-05	0	0.0004	9.921e-05	0	0	0	0	.	.	.	0.033	0.53072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	0.117088854	0.22104	T	.	.	.	.	.	.	.	.	.	0.03503252016017476	0.03450	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347765	0.07665	T	.	.	.	.	.	.	.	.	-7.218	0.55610	T	.	.	0.207	0.43352	B	.;.	.;.	1.622838	0.20726	14.88	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.220000	0.32095	0.001000	0.13291	0.470000	0.21925	0.001000	0.13787	0.000000	0.08366	0.044000	0.14658	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	15407.9	706	chr7	100953548	.	C	T	15407.9	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.57;DP=5761;ExcessHet=8.2628;FS=2.602;MLEAC=2;MLEAF=0.143;MQ=55.46;MQRankSum=-6.569;QD=3.05;ReadPosRankSum=5.42;SOR=0.839	GT:AD:DP:GQ:PL	0/0:1052,0:1144:99:696,3863,48036	5	0	2	0
chr7	100953580	100953580	T	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.T1801G:p.F601V	.	771	720	29	2	0	33	0.0224033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0024	0.0001	0.0001	0.0004	9.336e-05	8.193e-05	0.0001	6.845e-05	0.0001	0.0003	0.0001	0	0.0002	0	0.0001	0.0001	0.0004	1.347e-05	0.0081	0	2.758e-05	0.0002	2.24e-06	8.4e-07	.	.	0	0	0	0	0.0002	0	0.0036	0	0	0	.	.	.	0.407	0.14818	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.01498	.	.	.	.	.	.	.	0.07435861	0.11356	T	.	.	.	.	.	.	.	.	.	0.03639408987963097	0.03586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266973	0.04402	T	.	.	.	.	.	.	.	.	-6.594	0.51007	T	.	.	0.156	0.34514	B	.;.	.;.	0.100440	0.05021	1.572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.522000	0.06323	-4.554000	0.02098	-0.287000	0.06331	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	51.44	726	chr7	100953580	.	T	G	51.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.2;DP=5709;ExcessHet=0;FS=1.848;MLEAC=1;MLEAF=0.071;MQ=54.83;MQRankSum=0.944;QD=0.95;ReadPosRankSum=2.43;SOR=0.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1191,0:1191:99:.:.:0,120,1800:.	6	0	1	0
chr7	100953605	100953605	C	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1826G:p.P609R	.	802	698	11	1	10	23	0.0092264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.672e-06	0.0002	7.504e-06	0	5.745e-06	0	0	.	.	0	0	0	0	0	0	5.745e-06	0	0	0	2.669e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.1168302	0.22049	T	.	.	.	.	.	.	.	.	.	0.028168692307800357	0.02766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327267	0.06786	T	.	.	.	.	.	.	.	.	-7.633	0.58541	D	.	.	0.151	0.33435	B	.;.	.;.	1.428387	0.18460	13.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461000	0.21651	-0.445000	0.09135	0.483000	0.22176	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	79.44	687	chr7	100953605	.	C	G	79.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.48;DP=5392;ExcessHet=0;FS=5.845;MLEAC=1;MLEAF=0.071;MQ=54.77;MQRankSum=-1.189;QD=1.77;ReadPosRankSum=0;SOR=1.863	GT:AD:DP:GQ:PL	0/0:1203,0:1203:99:0,120,1800	6	0	1	0
chr7	100953625	100953625	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1846T:p.P616S	.	801	715	5	1	0	7	0.00487126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1403432548	0	3.499e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.119e-05	0.0001	0	2.267e-05	0.0003	0	0	.	.	0	0	0	0	0.0003	0	0	0	0	0	.	.	.	0.582	0.08476	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.06587	.	.	.	.	.	.	.	0.06737754	0.09379	T	.	.	.	.	.	.	.	.	.	0.0709963202969652	0.07036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387861	0.09571	T	.	.	.	.	.	.	.	.	-5.552	0.42351	T	.	.	0.144	0.31683	B	.;.	.;.	0.772324	0.11424	8.032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.624000	0.02141	-6.914000	0.01275	-0.325000	0.05822	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	41.23	560	chr7	100953625	.	C	T	41.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.343;DP=5330;ExcessHet=0;FS=2.02;MLEAC=1;MLEAF=0.083;MQ=54.99;MQRankSum=0.653;QD=0.96;ReadPosRankSum=-0.46;SOR=1.238	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1178,0:1178:99:.:.:0,120,1800:.	5	0	1	1
chr7	100953661	100953661	G	0	exonic	MUC3A	.	.	.	.	840	451	225	5	1	236	0.206684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	13966.9	588	chr7	100953661	.	G	*	13966.9	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.81;DP=5125;ExcessHet=14.2834;FS=0.776;MLEAC=1;MLEAF=0.071;MQ=56.74;MQRankSum=-11.47;QD=2.73;ReadPosRankSum=0.038;SOR=0.702	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:997,0:1173:99:0|1:100953656_C_T:4389,7390,49254:100953656	6	0	1	0
chr7	100953663	100953663	C	0	exonic	MUC3A	.	.	.	.	859	431	226	5	1	237	0.214936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	14518.0	589	chr7	100953663	.	C	*	14518.0	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.25;DP=5094;ExcessHet=14.2834;FS=0.776;MLEAC=1;MLEAF=0.071;MQ=56.81;MQRankSum=-11.54;QD=2.85;ReadPosRankSum=0.591;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:985,0:1162:99:0|1:100953656_C_T:4467,7432,48792:100953656	6	0	1	0
chr7	100954094	100954094	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A2315G:p.H772R	.	808	657	57	0	0	57	0.0415755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs933695519	0.0094	0.0084	0.0088	0.0099	0.0595	0.0091	0.0090	0.0528	0.0502	0.0016	0.0072	0.0349	3.479e-05	0.0009	0.0595	0.0082	0.0130	0.0215	0.0083	0.0088	0.0080	0.0086	0.0316	0.0079	0.0078	0.0275	0.0259	0.0016	0.0787	0.0127	0.0336	0.0004	0.0009	0.0479	0.0089	0.0152	0.0316	.	.	.	0.213	0.27056	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.03613	.	.	.	.	.	.	.	0.0039747953	0.00077	T	.	.	.	.	.	.	.	.	.	0.02810929783616011	0.02760	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304669	0.05813	T	.	.	.	.	.	.	.	.	-6.03	0.46530	T	.	.	0.163	0.35931	B	.;.	.;.	0.036165	0.04538	1.230	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.370000	0.02682	-8.607000	0.00942	-0.344000	0.05652	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1089.44	285	chr7	100954094	.	A	G	1089.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.54;DP=2122;ExcessHet=0;FS=1.294;MLEAC=1;MLEAF=0.071;MQ=56.09;MQRankSum=4.67;QD=6.56;ReadPosRankSum=0.267;SOR=0.564	GT:AD:DP:GQ:PL	0/0:464,0:464:99:0,117,1800	6	0	1	0
chr7	100954883	100954883	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C3104T:p.T1035I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1291895937	1.811e-05	0.0004	2.487e-05	1.174e-05	0.0001	7.51e-06	5.28e-06	6.5e-06	3.04e-06	0.0001	9.083e-05	0	0	0	0	1.926e-05	0	0	1.339e-05	0.0013	1.309e-05	1.371e-05	0.0002	2.23e-06	8.3e-07	.	.	2.488e-05	0	0	0	0.0002	0	0	0	0	0	.	.	.	0.01	0.65728	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.01203	.	.	.	.	.	.	.	0.08443788	0.14151	T	.	.	.	.	.	.	.	.	.	0.037606147477919044	0.03706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321068	0.06505	T	.	.	.	.	.	.	.	.	-7.484	0.57498	T	.	.	0.175	0.38281	B	.;.	.;.	0.733817	0.11029	7.687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171000	0.16497	-7.960000	0.01054	-1.062000	0.01615	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	462.44	442	chr7	100954883	.	C	T	462.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.26;DP=3127;ExcessHet=0;FS=2.065;MLEAC=1;MLEAF=0.071;MQ=58.99;MQRankSum=-19.81;QD=0.77;ReadPosRankSum=-3.739;SOR=1.056	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:549,55:604:99:0|1:100954883_C_T:473,0,22874:100954883	6	0	1	0
chr7	100955870	100955870	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C4091T:p.T1364I	.	751	747	24	0	0	24	0.0158103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215415686	6.571e-06	0.0003	1.366e-05	0	9.178e-05	1.09e-06	4.1e-07	.	.	0	9.178e-05	0	0	0	0	5.199e-06	0	0	0	1.97e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.053	0.47581	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.14480	.	.	.	.	.	.	.	0.12569833	0.23889	T	.	.	.	.	.	.	.	.	.	0.13546840645142116	0.13470	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324967	0.06659	T	.	.	.	.	.	.	.	.	-6.916	0.53417	T	.	.	0.194	0.41449	B	.;.	.;.	1.318058	0.17221	13.03	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.269000	0.18354	-1.184000	0.06088	0.523000	0.23987	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	148.44	771	chr7	100955870	.	C	T	148.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.256;DP=4719;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=54.88;MQRankSum=-4.851;QD=3.3;ReadPosRankSum=0.096;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1348,0:1348:99:.:.:0,120,1800:.	6	0	1	0
chr7	100955885	100955885	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C4106A:p.T1369K	.	797	704	21	0	0	21	0.0146956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.076e-06	9.378e-05	6.453e-06	0	4.916e-06	0	0	.	.	0	0	0	0	0	0	4.916e-06	0	0	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.869	0.03361	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.15328	.	.	.	.	.	.	.	0.13989082	0.26594	T	.	.	.	.	.	.	.	.	.	0.07637178851557971	0.07573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256074	0.04257	T	.	.	.	.	.	.	.	.	-7.527	0.57801	D	.	.	0.216	0.44501	B	.;.	.;.	1.540250	0.19754	14.42	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.690000	0.25132	-11.763000	0.00577	0.523000	0.23987	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	118.44	771	chr7	100955885	.	C	A	118.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.875;DP=4721;ExcessHet=0;FS=1.738;MLEAC=1;MLEAF=0.071;MQ=55.06;MQRankSum=-4.57;QD=2.52;ReadPosRankSum=1.94;SOR=1.262	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1348,0:1348:99:.:.:0,120,1800:.	6	0	1	0
chr7	100955890	100955890	G	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.G4111A:p.D1371N	.	735	767	20	0	0	20	0.01287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.58e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.628e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.455	0.13066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.07125	.	.	.	.	.	.	.	0.11502871	0.21659	T	.	.	.	.	.	.	.	.	.	0.018346625916155938	0.01788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391661	0.09743	T	.	.	.	.	.	.	.	.	-5.603	0.42820	T	.	.	0.112	0.21950	B	.;.	.;.	0.813907	0.11849	8.417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.699000	0.05188	-11.494000	0.00600	0.576000	0.29215	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	127.44	775	chr7	100955890	.	G	A	127.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.022;DP=4805;ExcessHet=0;FS=1.719;MLEAC=1;MLEAF=0.071;MQ=54.73;MQRankSum=-4.537;QD=2.9;ReadPosRankSum=1.68;SOR=1.186	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1349,0:1349:99:.:.:0,120,1800:.	6	0	1	0
chr7	100955900	100955900	C	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C4121G:p.T1374R	.	1070	433	19	0	0	19	0.0214689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.089e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.073	0.43159	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.05162	.	.	.	.	.	.	.	0.105006486	0.19389	T	.	.	.	.	.	.	.	.	.	0.12460099460470149	0.12386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274673	0.04684	T	.	.	.	.	.	.	.	.	-8.228	0.62613	D	.	.	0.103	0.18289	B	.;.	.;.	1.206719	0.15994	12.24	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187000	0.16806	-20.000000	0.00162	0.512000	0.23348	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	79.44	748	chr7	100955900	.	C	G	79.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.821;DP=4517;ExcessHet=0;FS=4.539;MLEAC=1;MLEAF=0.071;MQ=55.01;MQRankSum=-4.221;QD=1.77;ReadPosRankSum=2.46;SOR=1.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1287,0:1287:99:.:.:0,120,1800:.	6	0	1	0
chr7	100955947	100955947	T	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.T4168G:p.S1390A	.	762	744	16	0	0	16	0.0106383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.24e-06	3.816e-05	5.585e-06	4.935e-06	4.118e-05	8.7e-07	3.3e-07	.	.	0	0	0	0	3.465e-05	0	0	0	4.118e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554	0.09298	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.08506	.	.	.	.	.	.	.	0.099006355	0.17938	T	.	.	.	.	.	.	.	.	.	0.009954419803871274	0.00957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140586	0.01332	T	.	.	.	.	.	.	.	.	-7.896	0.60359	D	.	.	0.106	0.19559	B	.;.	.;.	0.793314	0.11639	8.224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.120000	0.10633	-3.951000	0.02432	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	82.44	593	chr7	100955947	.	T	G	82.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.605;DP=4019;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=53.83;MQRankSum=-3.544;QD=2.84;ReadPosRankSum=-2.365;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1026,0:1026:99:.:.:0,120,1800:.	6	0	1	0
chr7	100958283	100958283	G	0	exonic	MUC3A	.	.	.	.	1044	288	14	0	176	190	0.0237288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	469.67	569	chr7	100958283	.	G	*	469.67	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-1.665;DP=3071;ExcessHet=1.7609;FS=17.362;MLEAC=2;MLEAF=0.5;MQ=50.93;MQRankSum=-0.386;QD=4.52;ReadPosRankSum=0.527;SOR=1.241	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:657,0:657:0:.:.:0,0,0:.	1	0	1	5
chr7	100958296	100958326	CACAGGTGGGGGACCACCGAGACCACATCCT	0	exonic	MUC3A	.	.	.	.	1113	167	100	11	131	253	0.267544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	568.61	569	chr7	100958296	.	CACAGGTGGGGGACCACCGAGACCACATCCT	*	568.61	.	AC=1;AF=0.25;AN=4;BaseQRankSum=1.38;DP=3102;ExcessHet=1.7609;FS=5.809;MLEAC=2;MLEAF=0.5;MQ=52.92;MQRankSum=-3.666;QD=4.09;ReadPosRankSum=-1.702;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:657,0:657:0:.:.:0,0,0:.	1	0	1	5
chr7	100958300	100958300	G	0	exonic	MUC3A	.	.	.	.	218	0	0	4	4	12	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	4084.19	164	chr7	100958300	.	G	*	4084.19	.	AC=2;AF=0.333;AN=6;BaseQRankSum=4.46;DP=2697;ExcessHet=0.9691;FS=79.117;MLEAC=3;MLEAF=0.5;MQ=48.22;MQRankSum=2.3;QD=13.48;ReadPosRankSum=-1.538;SOR=1.538	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:657,0:657:0:.:.:0,0,0:.	1	0	2	4
chr7	100958301	100958301	G	0	exonic	MUC3A	.	.	.	.	1236	33	0	10	243	263	0.232558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	4090.19	162	chr7	100958301	.	G	*	4090.19	.	AC=2;AF=0.333;AN=6;DP=2695;ExcessHet=0.9691;FS=79.53;MLEAC=3;MLEAF=0.5;MQ=48.25;MQRankSum=2.29;QD=13.59;SOR=1.537	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:657,0:657:0:.:.:0,0,0:.	1	0	2	4
chr7	100958304	100958304	G	0	exonic	MUC3A	.	.	.	.	1234	37	0	13	238	264	0.26	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	6718.16	164	chr7	100958304	.	G	*	6718.16	.	AC=2;AF=0.333;AN=6;DP=2697;ExcessHet=0.9691;FS=3.23;MLEAC=3;MLEAF=0.5;MQ=52.18;MQRankSum=-2.682;QD=22.17;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:657,0:657:0:.:.:0,0,0:.	1	0	2	4
chr7	100958305	100958305	G	0	exonic	MUC3A	.	.	.	.	1235	37	1	5	244	255	0.129412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	6615.17	166	chr7	100958305	.	G	*	6615.17	.	AC=2;AF=0.333;AN=6;DP=2699;ExcessHet=0.9691;FS=1.957;MLEAC=3;MLEAF=0.5;MQ=52.47;MQRankSum=-3.203;QD=21.69;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:657,0:657:0:.:.:0,0,0:.	1	0	2	4
chr7	100958351	100958351	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C6572T:p.S2191L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0015	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0001	0.0002	0	0.0002	0	0.0002	0	0.0002	0.0003	0.0003	0.0009	0.0036	0.0018	0	0.0047	0	0	.	.	0.0047	0	0	0	0	0	.	0	0	0	.	.	.	0.143	0.33219	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.01825	.	.	.	.	.	.	.	0.083599836	0.13923	T	.	.	.	.	.	.	.	.	.	0.003207136216159852	0.00299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407359	0.10471	T	.	.	.	.	.	.	.	.	-3.875	0.22062	T	.	.	0.106	0.19720	B	.;.	.;.	-0.451785	0.02026	0.182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.448000	0.06893	-20.000000	0.00162	-1.469000	0.01073	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	808	0.43318	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	218.58	386	chr7	100958351	.	C	T	218.58	.	AC=1;AF=0.5;AN=2;BaseQRankSum=2.26;DP=2737;ExcessHet=0;FS=4.2;MLEAC=2;MLEAF=1;MQ=55.32;MQRankSum=-8.33;QD=2.46;ReadPosRankSum=-3.221;SOR=0.77	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:630,0:630:0:.:.:0,0,0:.	0	0	1	6
chr7	100958399	100958399	C	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C6620G:p.T2207S	.	471	1039	12	0	0	12	0.00574163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1033621635	0.0008	0.0011	0.0006	0.0009	0.0031	0.0007	0.0007	0.0023	0.0022	0	0.0008	0.0125	0	0.0002	0.0031	0.0003	0.0014	0.0026	0.0013	0.0019	0.0014	0.0013	0.0041	0.0012	0.0011	0.0025	0.0021	0.0003	0	0.0017	0.0173	0	0.0003	0.0138	0.0010	0.0030	0.0041	.	.	.	0.668	0.06345	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00571	.	.	.	.	.	.	.	0.0059574544	0.00134	T	.	.	.	.	.	.	.	.	.	0.0036340658265913333	0.00340	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206579	0.02455	T	.	.	.	.	.	.	.	.	-0.5	0.00727	T	.	.	0.106	0.19839	B	.;.	.;.	-0.558620	0.01688	0.122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.012000	0.03759	-5.979000	0.01534	-0.685000	0.04181	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	808	0.43318	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1896.44	528	chr7	100958399	.	C	G	1896.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.733;DP=3356;ExcessHet=0;FS=2.557;MLEAC=1;MLEAF=0.071;MQ=59.21;MQRankSum=1.7;QD=5.25;ReadPosRankSum=-0.5;SOR=0.845	GT:AD:DP:GQ:PL	0/1:264,97:361:99:1907,0,7091	6	0	1	0
chr7	100960582	100960582	T	0	exonic	MUC3A	.	.	.	.	0	9	197	0	20	217	0.916279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	34102.2	473	chr7	100960582	.	T	*	34102.2	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.756;DP=3411;ExcessHet=14.2834;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=-0.875;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:429,0:745:99:0|1:100960582_T_A:11739,13030,30872:100960582	6	0	1	0
chr7	100991093	100991093	C	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C530A:p.T177K	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.0184006155568	0.0004	.	0.0006	0	0	0	0	0.0012	0.0042	0.0001	9.06e-05	14	154602	rs374128187	0.0003	0.0002	0.0003	0.0003	0.0054	0.0002	0.0002	0.0039	0.0034	6.332e-05	0.0005	0.0045	0	0	0.0054	0.0001	0.0005	0.0002	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	2.414e-05	0	0.0005	0.0040	0	0	0	0.0002	0	0.0006	0.003	0.68238	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.7	0.43825	L	2.74	0.11730	T	-0.79	0.21860	N	0.185	0.20925	-0.9544	0.40203	T	0.015	0.06282	T	7	0.0064397156	0.00146	T	0.018401	0.40451	T	0.014	0.01968	.	.	0.0401082797425	0.02173	0.023725647061661984	0.02324	.	.	0.53535681963	0.43789	T	0.004359	0.03768	T	-0.516828	0.00459	T	-0.650163	0.08942	T	0.0221020980214668	0.00921	T	0.294071	0.05417	T	0.07170903	0.15896	0.10393348	0.24949	0.07170903	0.15895	0.10393348	0.24948	-9.049	0.68248	D	.	.	0.410	0.60155	A	.;.	.;.	0.366393	0.07391	4.013	0.86754503308675435	0.16750	0.00228	0.01279	N	AEFDBI	0.036155	0.04771	N	-0.94857703009039	0.09725	0.4615139	-1.11191533093776	0.07471	0.3635628	1.23114870679214E-5	0.02871	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.713	0.713	0.17330	-1.444000	0.02510	-4.692000	0.02031	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	1.0E-4:0.5827:0.4172:0.0	4.574	0.11617	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007874	0.005319	0.006667	0.014925	0.000000	0.000000	0.011364	0.000000	0.07143	100.44	33	chr7	100991093	.	C	A	100.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.403;DP=226;ExcessHet=0;FS=2.141;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.78;ReadPosRankSum=1.12;SOR=0.781	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1300	6	0	1	0
chr7	100991105	100991105	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C542T:p.P181L	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.0101217068159	0.0011	0.00139776	0.0008	0	0.0026	0	0	0.0015	0.0042	0.0004	0.000511	79	154602	rs117301718	0.0025	0.0024	0.0026	0.0025	0.0030	0.0025	0.0024	0.0029	0.0029	0.0004	0.0012	0.0006	0	0.0003	0.0007	0.0030	0.0024	0.0004	0.0017	0.0017	0.0018	0.0015	0.0028	0.0015	0.0015	0.0025	0.0024	0.0005	0	0.0018	0.0017	0	0.0004	0	0.0028	0.0014	0.0004	0.009	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.935	0.51832	L	2.47	0.14907	T	-1.19	0.30346	N	0.117	0.10626	-0.9837	0.34140	T	0.018	0.07612	T	7	0.0057303905	0.00128	T	0.010122	0.26280	T	0.106	0.30130	.	.	0.137902524267	0.13322	0.02362065669491372	0.02314	.	.	0.445095092058	0.31273	T	0.00341	0.02819	T	-0.645631	0.00077	T	-0.700325	0.05808	T	0.0169852373591272	0.00448	T	0.415458	0.11436	T	0.037568357	0.04840	0.04749011	0.06851	0.037568357	0.04840	0.04749011	0.06851	-6.652	0.52826	T	.	.	0.238	0.47239	B	.;.	.;.	0.919854	0.12949	9.454	0.94385416824696866	0.24761	0.01120	0.04086	N	AEFDBI	0.045510	0.07451	N	-0.897958852218374	0.10890	0.5227181	-1.08383439985478	0.08019	0.3924495	1.18745582810711E-5	0.02871	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	0.938000	0.28562	-0.998000	0.06656	0.415000	0.20742	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.4896:0.51:2.0E-4:2.0E-4	2.943	0.05480	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	4303.44	33	chr7	100991105	.	C	T	4303.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.88;DP=570;ExcessHet=0;FS=1.693;MLEAC=1;MLEAF=0.071;MQ=59.95;MQRankSum=0;QD=11.57;ReadPosRankSum=0.327;SOR=0.8	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1300	6	0	1	0
chr7	100991287	100991287	A	G	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.A724G:p.T242A	.	427	1067	26	2	0	30	0.0138632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00652888354005	.	.	0.0038	0.0009	0	0	0	0.0009	0.0084	0.0090	0.0021927	339	154602	rs61746396	0.0009	0.0009	0.0006	0.0012	0.0091	0.0009	0.0009	0.0086	0.0083	6.332e-05	0.0005	0	0.0014	2.832e-05	0.0072	0.0003	0.0017	0.0091	0.0007	0.0007	0.0005	0.0009	0.0086	0.0006	0.0005	0.0065	0.0058	9.681e-05	0	0.0006	0	0.0012	0	0.0103	0.0006	0.0005	0.0086	0.087	0.32453	T	0.53	0.10572	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.955	0.23872	L	2.81	0.10975	T	-0.6	0.17834	N	0.02	0.00308	-0.9533	0.40398	T	0.011	0.03996	T	7	0.00432986	0.00088	T	0.006529	0.17215	T	0.047	0.12962	0.2	0.11384	0.0138822411134	0.00435	0.006682807604354214	0.00636	.	.	0.515609204769	0.41008	T	0.002028	0.01432	T	-0.737633	0.00021	T	-0.826221	0.01331	T	0.0112506452045914	0.00166	T	0.211379	0.02951	T	0.030813508	0.02810	0.034640256	0.02566	0.030813508	0.02810	0.034640256	0.02566	-1.031	0.01310	T	.	.	0.108	0.20430	B	.;.	.;.	0.644882	0.10131	6.878	0.47128776754686663	0.03829	0.00206	0.01180	N	AEFBI	0.027544	0.02270	N	-1.59742179293579	0.01277	0.05559555	-1.76777407221818	0.00868	0.0387976	5.03922736043929E-4	0.07176	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.713	-1.43	0.08418	0.338000	0.19599	-2.494000	0.03685	-1.185000	0.01382	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2047:0.0:0.5827:0.2125	4.488	0.11212	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002364	0.000000	0.007576	0.000000	0.000000	0.000000	0.011236	0.000000	0.07143	2093.44	258	chr7	100991287	.	A	G	2093.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.06;DP=1559;ExcessHet=0;FS=10.716;MLEAC=1;MLEAF=0.071;MQ=59.76;MQRankSum=-2.025;QD=10.68;ReadPosRankSum=0.562;SOR=0.93	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1300	6	0	1	0
chr7	100991620	100991620	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G1057A:p.G353S	.	428	1068	25	1	0	27	0.0124827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0272967915154	.	0.00219649	0.0036	0.0009	0	0	0	0.0007	0.0084	0.0086	0.0006209	96	154602	rs201915926	0.0009	0.0008	0.0006	0.0012	0.0088	0.0008	0.0008	0.0082	0.0080	6.331e-05	0.0005	0	0.0014	0	0.0072	0.0003	0.0016	0.0088	0.0006	0.0006	0.0004	0.0008	0.0081	0.0005	0.0005	0.0061	0.0054	7.219e-05	0	0.0005	0	0.0012	0	0.0102	0.0005	0.0005	0.0081	0.274	0.15823	T	0.556	0.09236	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.005	0.54552	M	2.38	0.15843	T	-0.57	0.17210	N	0.056	0.03841	-0.9628	0.38645	T	0.016	0.06473	T	7	0.0034188032	0.00060	T	0.027297	0.50125	D	0.066	0.19193	0.196	0.10839	0.0297737177859	0.01360	0.0030616590080894636	0.00285	.	.	0.555631101131	0.46650	T	0.004588	0.03998	T	-0.67315	0.00053	T	-0.733878	0.04154	T	0.0156005638217665	0.00356	T	0.336666	0.10471	T	0.042810567	0.06560	0.053620633	0.09069	0.042810567	0.06559	0.053620633	0.09068	-5.311	0.40052	T	.	.	0.116	0.23360	B	.;.	.;.	0.208761	0.05926	2.366	0.9752633119165024	0.34432	0.00698	0.02970	N	AEFDBI	0.045326	0.07401	N	-1.03323322436739	0.07920	0.3696046	-1.17181321402914	0.06384	0.307152	2.89149351587455E-4	0.06355	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.637	0.637	0.16907	0.262000	0.18229	-2.252000	0.03995	0.205000	0.17943	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	1.0E-4:0.0:0.9999:0.0	7.225	0.25185	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002415	0.000000	0.006944	0.000000	0.000000	0.000000	0.011494	0.000000	0.07143	1914.44	174	chr7	100991620	.	G	A	1914.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.15;DP=1478;ExcessHet=0;FS=0.604;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.055;SOR=0.674	GT:AD:DP:GQ:PL	0/0:298,0:298:99:0,120,1800	6	0	1	0
chr7	100991846	100991846	C	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C1283A:p.S428Y	.	418	1078	26	0	0	26	0.0119157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.0148951942751	.	0.00219649	0.0036	0.0009	0	0	0	0.0008	0.0085	0.0086	0.0006274	97	154602	rs199682941	0.0008	0.0008	0.0005	0.0011	0.0083	0.0008	0.0008	0.0078	0.0076	6.332e-05	0.0004	0	0.0013	0	0.0072	0.0003	0.0014	0.0083	0.0006	0.0006	0.0004	0.0007	0.0068	0.0005	0.0004	0.0050	0.0044	4.811e-05	0	0.0005	0	0.0012	0	0.0102	0.0005	0.0005	0.0068	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.695	0.17993	N	2.64	0.12780	T	-0.21	0.12472	N	0.093	0.07262	-0.9854	0.33735	T	0.016	0.06711	T	7	0.0058657527	0.00131	T	0.014895	0.35312	T	0.003	0.00094	0.372	0.38340	0.0551355673512	0.04727	0.0014204684338557797	0.00131	.	.	0.489761143923	0.37405	T	0.003088	0.02494	T	-0.680057	0.00048	T	-0.744364	0.03709	T	0.00730699837617062	0.00084	T	0.412159	0.10706	T	0.05088362	0.09261	0.06929341	0.14581	0.05088362	0.09261	0.06929341	0.14581	-8.734	0.68273	D	.	.	0.406	0.59893	A	.;.	.;.	0.187972	0.05743	2.189	0.21548082113622077	0.00826	0.00251	0.01383	N	AEFDBI	0.041534	0.06327	N	-1.3061415785592	0.03604	0.1612931	-1.49614873347399	0.02376	0.1091589	1.92969815790567E-4	0.05898	0.554377	0.28877	0	0.626922	0.53725	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.131	-0.261	0.12322	-2.511000	0.01035	-3.971000	0.02419	-1.212000	0.01350	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3343:0.0:0.6657	3.797	0.08262	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002353	0.000000	0.006757	0.000000	0.000000	0.000000	0.010989	0.000000	0.07143	1696.44	338	chr7	100991846	.	C	A	1696.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.662;DP=2029;ExcessHet=0;FS=3.257;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.96;ReadPosRankSum=2.04;SOR=0.926	GT:AD:DP:GQ:PL	0/0:298,0:298:99:0,120,1800	6	0	1	0
chr7	100992782	100992782	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C2219T:p.T740I	.	428	1082	12	0	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00919886808956	.	.	.	.	.	.	.	.	.	.	.	.	.	rs752686878	1.951e-05	0.0003	1.711e-05	2.197e-05	0.0007	1.336e-05	1.145e-05	0.0002	0.0001	0	0	0	0.0002	0	0.0007	5.562e-06	8.63e-05	7.63e-05	2.631e-05	0.0001	1.286e-05	4.04e-05	0.0002	8.15e-06	5.15e-06	.	.	0	0	0	0	0.0002	0	0	1.471e-05	0.0005	0.0002	0.0	0.91255	D	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.895	0.50365	L	2.74	0.11730	T	-0.71	0.20145	N	0.052	0.02964	-0.9784	0.35368	T	0.017	0.07045	T	7	0.089324325	0.15462	T	0.009199	0.24177	T	0.011	0.01250	0.226	0.15109	0.0401082797425	0.02173	0.008974762183185991	0.00860	.	.	0.501668989658	0.39061	T	0.001914	0.01327	T	-0.322377	0.06705	T	-0.700848	0.05780	T	0.0646935400231275	0.07885	T	0.338366	0.07261	T	0.07014213	0.15424	0.050078113	0.07785	0.07014213	0.15424	0.050078113	0.07785	-7.607	0.58360	D	.	.	0.336	0.55651	B	.;.	.;.	1.123112	0.15092	11.58	0.25701254249345079	0.01197	0.00151	0.00912	N	AEFBI	0.030792	0.03167	N	-0.970771451634389	0.09232	0.4360856	-1.1701442174679	0.06413	0.3086505	1.24926252786005E-5	0.02871	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.481	-0.69	0.10741	-0.056000	0.11744	0.213000	0.15984	0.225000	0.18106	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6801:0.0:0.3199	4.438	0.10985	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	148.44	346	chr7	100992782	.	C	T	148.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.838;DP=1973;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=36.05;MQRankSum=-0.642;QD=0.36;ReadPosRankSum=-1.347;SOR=0.73	GT:AD:DP:GQ:PL	0/0:243,0:243:99:0,120,1800	6	0	1	0
chr7	100994375	100994375	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C3812T:p.P1271L	.	921	585	5	11	0	27	0.0225564	.	.	.	2826000	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.110	.	.	0.00179712	0.0091	0.0065	0	0	0	0.0021	0.0147	0.0178	0.0003458	9	26028	rs537007543	0.0018	0.0013	0.0011	0.0024	0.0189	0.0017	0.0016	0.0179	0.0175	0.0002	0.0005	0	0.0002	0	0.0125	0.0004	0.0031	0.0189	0.0001	0.0007	0.0001	0.0001	0.0017	4.836e-05	3.348e-05	0.0003	0.0001	0	0	0	0	0	0	0.0066	0.0001	0	0.0017	0.102	0.31088	T	0.077	0.43344	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.47	0.14907	T	-0.91	0.24460	N	0.036	0.01068	-0.9888	0.32903	T	0.015	0.05801	T	6	0.0043216944	0.00087	T	.	.	.	0.110	0.31079	0.16	0.06396	0.0762999501168	0.06990	0.0031553020424399596	0.00294	.	.	0.434693872929	0.29851	T	0.006599	0.06028	T	-0.399654	0.02327	T	-0.811852	0.01624	T	0.0127694814109322	0.00217	T	0.39686	0.10010	T	0.031645462	0.03042	0.07101663	0.15156	0.031645462	0.03042	0.07101663	0.15155	-5.497	0.41840	T	.	.	0.166	0.36515	B	.;.	.;.	0.266556	0.06444	2.918	0.37342175000060618	0.02455	0.00359	0.01841	N	AEFI	0.028458	0.02510	N	-1.41490276670712	0.02507	0.1108218	-1.59957104650805	0.01658	0.07526399	1.73132100501466E-4	0.05786	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.713	-1.43	0.08418	0.061000	0.14242	-5.476000	0.01704	-0.914000	0.02241	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009317	0.000000	0.000000	0.000000	0.000000	0.000000	0.017857	0.071429	0.25	561.11	.	chr7	100994375	.	C	T	561.11	.	AC=2;AF=0.25;AN=8;DP=175;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.375;MQ=33.98;QD=28.06;SOR=1.402	GT:AD:DP:GQ:PL	0/0:76,0:76:99:0,120,1800	3	1	0	3
chr7	100994802	100994802	C	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C4239A:p.H1413Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00734140934622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.834e-07	1.399e-06	1.979e-06	0	1.331e-06	0	0	.	.	0	0	0	0	0	0	1.331e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.117	0.37037	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.55	0.14455	N	2.72	0.11947	T	-0.88	0.23808	N	0.112	0.09914	-0.9506	0.40868	T	0.012	0.04700	T	6	0.08725843	0.14912	T	0.007341	0.19469	T	0.020	0.03691	0.101	0.01536	0.0138822411134	0.00435	0.004390605146902097	0.00413	.	.	0.529903233051	0.43020	T	0.003189	0.02596	T	-0.355665	0.04381	T	-0.748664	0.03538	T	0.0384845035175874	0.03418	T	0.216778	0.03161	T	0.102228686	0.24153	0.11534091	0.27843	0.102228686	0.24153	0.11534091	0.27842	-6.559	0.50739	T	.	.	0.373	0.63057	A	.;.	.;.	0.227119	0.06087	2.532	0.4400747726754568	0.03353	0.00109	0.00694	N	AEFI	0.026724	0.02056	N	-1.17570136164069	0.05369	0.2445843	-1.36442761523855	0.03639	0.1701449	2.99769686007091E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.722	-1.44	0.08391	-0.094000	0.11060	-0.961000	0.06779	0.210000	0.17975	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	707.63	15	chr7	100994802	.	C	A	707.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.421;DP=170;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=31.75;MQRankSum=4.26;QD=18.14;ReadPosRankSum=-3.157;SOR=1.096	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr7	100994812	100994812	G	C	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G4249C:p.G1417R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.022754825579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.023	0.58613	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.33	0.16492	T	-1.17	0.29933	N	0.207	0.22998	-0.9467	0.41532	T	0.017	0.06807	T	6	0.100924104	0.18408	T	0.022755	0.45677	T	0.076	0.22200	0.199	0.11247	0.0986583533028	0.09354	0.0027907139050238746	0.00259	.	.	0.469609737396	0.34625	T	0.00426	0.03670	T	-0.284666	0.10179	T	-0.646679	0.09189	T	0.0488286454799449	0.05294	T	0.422958	0.11265	T	0.15627994	0.35275	0.21471757	0.46033	0.15627994	0.35275	0.21471757	0.46032	-7.014	0.54136	T	.	.	0.421	0.66480	A	.;.	.;.	0.854730	0.12271	8.812	0.4520076118291424	0.03530	0.00546	0.02508	N	AEFI	0.045468	0.07440	N	-1.04713244815538	0.07643	0.3557838	-1.22074395432343	0.05577	0.2661314	1.21955206414086E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.722	-0.44	0.11649	-0.097000	0.11010	-3.198000	0.02978	0.234000	0.18175	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	267.63	16	chr7	100994812	.	G	C	267.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.528;DP=168;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=28.72;MQRankSum=4.49;QD=7.65;ReadPosRankSum=-2.19;SOR=0.257	GT:AD:DP:GQ:PL	0/1:23,12:35:99:278,0,575	6	0	1	0
chr7	100998112	100998112	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G7549A:p.V2517I	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.0070258105017	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1454828999	2.209e-05	0.0003	2.472e-05	1.939e-05	5.647e-05	1.567e-05	1.36e-05	1.237e-05	1.005e-05	3.226e-05	5.647e-05	8.028e-05	0	0	0	1.894e-05	5.252e-05	2.547e-05	5.673e-05	0.0002	5.522e-05	5.833e-05	0.0007	2.736e-05	2.059e-05	0.0002	9.669e-05	0	0.0012	0.0001	0	0.0002	0	0	1.569e-05	0	0.0007	0.387	0.10945	T	0.572	0.08900	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.55	0.14455	N	2.76	0.11515	T	-0.33	0.12472	N	0.061	0.03283	-0.9646	0.38290	T	0.011	0.04369	T	7	0.035689414	0.01830	T	0.007026	0.18621	T	0.007	0.00512	0.119	0.02647	0.0138822411134	0.00435	0.00380759463186348	0.00356	.	.	0.55989253521	0.47253	T	0.003414	0.02819	T	-0.390759	0.02660	T	-0.799075	0.01925	T	0.0237954057905498	0.01119	T	0.20168	0.02313	T	0.025512444	0.01497	0.023218812	0.00336	0.025512444	0.01497	0.023218812	0.00336	-6.877	0.53129	T	.	.	0.159	0.35056	B	.;.	.;.	0.458451	0.08281	5.028	0.89432922729282938	0.18792	0.00033	0.00296	N	AEFI	0.016540	0.00378	N	-1.34314679815926	0.03197	0.1423888	-1.53405157327845	0.02087	0.095487	2.68971552137606E-5	0.03498	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	1.01	-2.02	0.06981	-1.531000	0.02323	-8.979000	0.00885	0.410000	0.20643	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4192:0.3264:0.2544:0.0	2.166	0.03602	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	442.44	33	chr7	100998112	.	G	A	442.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.23;DP=550;ExcessHet=0;FS=2.793;MLEAC=1;MLEAF=0.071;MQ=28.88;MQRankSum=-1.136;QD=1.6;ReadPosRankSum=0.129;SOR=0.325	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	6	0	1	0
chr7	101002321	101002321	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G11758A:p.E3920K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	.	.	0.0015	0.0162	0.0057	0	0	0	0	0	3.84e-05	1	26028	rs750395168	2.457e-05	0.0003	2.569e-05	2.343e-05	0.0006	1.769e-05	1.561e-05	0.0004	0.0003	0.0006	5.614e-05	0	0	0	0	1.02e-05	3.452e-05	2.526e-05	0.0003	0.0041	0.0003	0.0003	0.0010	0.0002	0.0002	0.0008	0.0007	0.0010	0	0.0002	0	0	9.441e-05	0	1.472e-05	0	0	0.157	0.23997	T	0.235	0.24767	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.1	0.28011	L	2.67	0.12473	T	-1.0	0.29114	N	0.06	0.03726	-0.9407	0.42505	T	0.013	0.04985	T	7	0.0065083206	0.00147	T	.	.	.	0.011	0.01250	.	.	0.0138822411134	0.00435	0.05489492383970703	0.05430	.	.	0.487518370152	0.37095	T	0.003211	0.02616	T	-0.367651	0.03714	T	-0.765882	0.02906	T	0.00772333085545986	0.00090	T	0.313269	0.06459	T	0.037175387	0.04717	0.04436823	0.05732	0.037175387	0.04716	0.04436823	0.05732	-7.191	0.55416	T	.	.	0.138	0.44306	B	.;.	.;.	0.655722	0.10239	6.978	0.50717218174487255	0.04433	0.00272	0.01477	N	AEFI	0.041724	0.06380	N	-1.21496333261071	0.04782	0.2165691	-1.39305193881434	0.03325	0.1548949	1.73634786069107E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	0.471	-0.942	0.09869	-1.442000	0.02514	-2.120000	0.04183	0.327000	0.19478	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.6508:0.3491:1.0E-4	5.638	0.16827	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004425	0.008621	0.012195	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	820.44	38	chr7	101002321	.	G	A	820.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=7.53;DP=819;ExcessHet=0;FS=8.346;MLEAC=1;MLEAF=0.071;MQ=34.05;MQRankSum=-0.794;QD=1.97;ReadPosRankSum=0.816;SOR=1.558	GT:AD:DP:GQ:PL	0/0:109,0:109:99:0,120,1800	6	0	1	0
chr7	101002722	101002722	C	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C12159A:p.H4053Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00614514634947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.22746	T	0.188	0.28764	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.43	0.35840	L	2.72	0.11947	T	-1.57	0.37955	N	0.094	0.07398	-0.9327	0.43740	T	0.013	0.05225	T	7	0.09557268	0.17080	T	0.006145	0.16082	T	0.030	0.07022	0.131	0.03577	0.0138822411134	0.00435	0.02791049918264779	0.02741	.	.	0.501397132874	0.39023	T	0.006114	0.05549	T	-0.388542	0.02749	T	-0.79589	0.02007	T	0.0308695474497133	0.02126	T	0.181582	0.01934	T	0.04878349	0.08559	0.058438245	0.10797	0.04878349	0.08559	0.058438245	0.10797	-6.08	0.46944	T	.	.	0.341	0.58089	A	.;.	.;.	1.145877	0.15336	11.77	0.32782102695445381	0.01918	0.00031	0.00285	N	AEFI	0.023590	0.01336	N	-1.1303150760905	0.06110	0.2803858	-1.31506737114718	0.04235	0.1993306	1.67743462375894E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.668	-1.34	0.08665	-0.248000	0.08872	-6.455000	0.01394	-0.669000	0.04307	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3804:0.6196:0.0:0.0	5.211	0.14641	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2116.44	52	chr7	101002722	.	C	A	2116.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-10.84;DP=1151;ExcessHet=0;FS=304.112;MLEAC=1;MLEAF=0.071;MQ=36.52;MQRankSum=9.18;QD=9.36;ReadPosRankSum=5.02;SOR=1.176	GT:AD:DP:GQ:PL	0/0:531,0:531:99:0,120,1800	6	0	1	0
chr7	101002732	101002732	G	C	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G12169C:p.G4057R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.0094422308888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.37536	T	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.69	0.16971	N	2.33	0.16492	T	-1.93	0.44852	N	0.092	0.07125	-0.9652	0.38171	T	0.015	0.05946	T	7	0.09890652	0.17914	T	0.009442	0.24739	T	0.016	0.02506	0.213	0.13210	0.0884992946249	0.08302	0.01880736341619484	0.01834	.	.	0.419170439243	0.27723	T	0.008047	0.07409	T	-0.319257	0.06958	T	-0.696367	0.06026	T	0.0525292761264563	0.05939	T	0.393961	0.09832	T	0.057783995	0.11543	0.079520285	0.17908	0.057783995	0.11543	0.079520285	0.17908	-6.896	0.53269	T	.	.	0.418	0.64435	A	.;.	.;.	1.432341	0.18510	13.77	0.23240322131869337	0.00973	0.00430	0.02113	N	AEFI	0.046688	0.07780	N	-1.10210750853119	0.06606	0.3045596	-1.29077993230898	0.04554	0.2150833	3.27774908045193E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.9	-1.8	0.07480	0.245000	0.17917	-3.543000	0.02708	0.424000	0.20830	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.212:0.0:0.3048:0.4832	2.388	0.04104	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1885.45	52	chr7	101002732	.	G	C	1885.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.606;DP=1022;ExcessHet=0;FS=20.302;MLEAC=1;MLEAF=0.071;MQ=40.85;MQRankSum=1.69;QD=3.58;ReadPosRankSum=2.75;SOR=0.88	GT:AD:DP:GQ:PL	0/1:406,120:526:99:1896,0,10668	6	0	1	0
chr7	101004767	101004767	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G14204A:p.S4735N	.	429	1064	28	1	0	30	0.0139018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00575888847817	.	0.00219649	0.0037	0.0010	0	0	0	0.0008	0.0087	0.0086	0.0006339	98	154602	rs138470062	0.0009	0.0008	0.0006	0.0012	0.0088	0.0008	0.0008	0.0082	0.0080	6.333e-05	0.0005	0	0.0014	0	0.0072	0.0003	0.0016	0.0088	0.0006	0.0006	0.0004	0.0008	0.0079	0.0005	0.0005	0.0059	0.0052	7.226e-05	0	0.0005	0	0.0012	0	0.0102	0.0005	0.0005	0.0079	0.015	0.52492	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.61	0.41143	L	2.68	0.12371	T	-0.21	0.10308	N	0.03	0.02088	-0.9516	0.40695	T	0.013	0.05129	T	7	0.0056373775	0.00125	T	0.005759	0.14952	T	0.013	0.01715	.	.	0.0401082797425	0.02173	0.005756498971179786	0.00545	.	.	0.564242482185	0.47865	T	0.00207	0.01480	T	-0.717392	0.00029	T	-0.797429	0.01968	T	0.0102664176472143	0.00140	T	0.238676	0.03398	T	0.06430783	0.13631	0.07049499	0.14985	0.06430783	0.13631	0.07049499	0.14985	-6.95	0.53668	T	.	.	0.182	0.39596	B	.;.	.;.	-0.548894	0.01717	0.126	0.2869108453473157	0.01486	0.00274	0.01486	N	AEFDBI	0.040935	0.06156	N	-1.02390813635653	0.08110	0.3790993	-1.21485078499716	0.05670	0.2708518	1.13364447858699E-4	0.05269	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.596	-1.19	0.09091	-0.084000	0.11233	-0.735000	0.07644	0.242000	0.18252	0.026000	0.20160	0.000000	0.08366	0.007000	0.07825	0.0:0.3165:0.3679:0.3156	2.561	0.04482	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001211	0.000000	0.007576	0.000000	0.000000	0.000000	0.005814	0.000000	0.07143	1608.44	146	chr7	101004767	.	G	A	1608.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.385;DP=1017;ExcessHet=0;FS=6.393;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.93;ReadPosRankSum=0.408;SOR=0.836	GT:AD:DP:GQ:PL	0/0:82,0:82:99:0,120,1800	6	0	1	0
chr7	101037065	101037065	A	C	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.A5649C:p.E1883D	.	424	1073	16	1	8	26	0.00831793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.000474894215332	7.7e-05	0.00119808	0.0007	0.0002	0	0.0012	0	0.0001	0.0022	0.0044	0.0006468	100	154602	rs148987719	0.0004	0.0004	0.0003	0.0006	0.0045	0.0004	0.0004	0.0041	0.0040	0	6.968e-05	0	0.0012	0	0.0039	0.0001	0.0008	0.0045	0.0002	0.0002	0.0002	0.0003	0.0024	0.0002	0.0002	0.0013	0.0010	7.758e-05	0	0	0	0.0011	0	0.0068	0.0002	0	0.0024	0.053	0.38863	T	.	.	.	0.023	0.18885	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	1.775	0.45938	L	4.25	0.02564	T	-0.78	0.21644	N	0.048	0.01999	-0.9127	0.46518	T	0.005	0.01761	T	9	0.0045764446	0.00095	T	4.75E-4	0.00124	T	0.029	0.06676	0.099	0.01433	0.0138822411134	0.00435	0.0033545964531929563	0.00313	.	.	0.359026581049	0.19243	T	0.017861	0.14499	T	-0.706273	0.00034	T	-0.787296	0.02240	T	0.0254307308112406	0.01330	T	0.454955	0.12997	T	0.04618515	0.07687	0.044919204	0.05928	0.04618515	0.07687	0.044919204	0.05928	-7.002	0.54048	T	.	.	0.169	0.37102	B	.	.	-0.671318	0.01388	0.080	0.11411634756362264	0.00171	0.00133	0.00820	N	AEFBI	0.054479	0.09908	N	-2.06728632942504	0.00151	0.006466167	-2.18535756437226	0.00121	0.005306158	0.266074738333487	0.18842	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-1.65	0.07849	-3.589000	0.00471	-12.134000	0.00548	-1.900000	0.00525	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4856:0.1705:0.1734:0.1705	1.018	0.01417	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.07143	6359.44	454	chr7	101037065	.	A	C	6359.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.25;DP=3478;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.83;MQRankSum=2.85;QD=17.05;ReadPosRankSum=2.93;SOR=0.713	GT:AD:DP:GQ:PL	0/0:834,0:834:99:0,120,1800	6	0	1	0
chr7	101037120	101037120	G	C	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.G5704C:p.A1902P	.	0	224	1	0	1	2	0.00222717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.000372868786388	.	.	.	.	.	.	.	.	.	.	.	.	.	rs534983270	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0017	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.146	0.25055	T	.	.	.	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	4.15	0.02815	T	-0.53	0.16393	N	0.092	0.07125	-0.9358	0.43272	T	0.004	0.01400	T	9	0.04352027	0.03210	T	3.73E-4	0.00054	T	0.028	0.06331	.	.	0.0297737177859	0.01360	0.0035618229797968184	0.00333	.	.	0.377167761326	0.21854	T	0.018594	0.14961	T	-0.390221	0.02681	T	-0.798302	0.01945	T	0.0415485472037037	0.03973	T	0.30237	0.05722	T	0.051522315	0.09473	0.055376988	0.09701	0.051522315	0.09472	0.055376988	0.09700	-1.929	0.02924	T	.	.	0.107	0.19998	B	.	.	-0.528057	0.01779	0.136	0.28701115715954134	0.01487	0.01144	0.04144	N	AEFBCI	0.102213	0.20510	N	-1.91682976361911	0.00317	0.01361774	-2.01030059452484	0.00291	0.01286151	0.049397000236357	0.14803	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	1.19	-2.38	0.06243	-1.245000	0.03010	-12.170000	0.00545	-0.485000	0.05058	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3493:0.1789:0.2944:0.1774	0.582	0.00667	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	59.44	454	chr7	101037120	.	G	C	59.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.428;DP=3415;ExcessHet=0;FS=3.955;MLEAC=1;MLEAF=0.071;MQ=58.83;MQRankSum=-28.37;QD=0.07;ReadPosRankSum=-5.026;SOR=1.016	GT:AD:DP:GQ:PL	0/1:838,62:900:70:70,0,35001	6	0	1	0
chr7	101039086	101039086	C	T	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C7670T:p.T2557I	.	430	1076	16	0	0	16	0.00738007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00376373145271	7.7e-05	0.00119808	0.0007	0.0002	0	0.0012	0	0.0001	0.0022	0.0041	0.0006662	103	154602	rs139836389	0.0004	0.0004	0.0003	0.0005	0.0039	0.0004	0.0004	0.0036	0.0035	0	6.708e-05	0	0.0010	0	0.0038	0.0001	0.0008	0.0039	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0001	0.0011	0.0009	7.246e-05	0	0	0	0.0010	0	0.0068	0.0002	0	0.0021	0.167	0.23095	T	.	.	.	0.099	0.25639	B	0.021	0.19346	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	4.3	0.02437	T	-1.64	0.39314	N	0.089	0.06720	-0.9336	0.43605	T	0.007	0.02518	T	9	0.006146103	0.00138	T	0.003764	0.08744	T	0.021	0.04004	.	.	0.0401082797425	0.02173	0.0016651797162687669	0.00154	.	.	0.279055923223	0.07361	T	0.015065	0.12707	T	-0.718406	0.00028	T	-0.804998	0.01780	T	0.0270574077305289	0.01552	T	0.29797	0.05545	T	0.037871405	0.04938	0.04760821	0.06894	0.037871405	0.04938	0.04760821	0.06894	-5.6	0.42792	T	.	.	0.166	0.36535	B	.	.	0.104022	0.05051	1.594	0.26352468489059955	0.01258	0.02982	0.07833	N	AEFBI	0.063309	0.12228	N	-1.05805504641411	0.07430	0.3451443	-1.16035633504142	0.06584	0.3173967	0.00950042847536221	0.11864	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.953	0.953	0.18714	-0.101000	0.10943	-0.980000	0.06715	0.311000	0.19140	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:1.0:0.0:0.0	7.902	0.28905	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001586	0.000000	0.001359	0.004098	0.000000	0.000000	0.003049	0.000000	0.07143	4679.44	175	chr7	101039086	.	C	T	4679.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.77;DP=2835;ExcessHet=0;FS=1.76;MLEAC=1;MLEAF=0.071;MQ=59.98;MQRankSum=-0.906;QD=13.45;ReadPosRankSum=-0.678;SOR=0.757	GT:AD:DP:GQ:PL	0/0:783,0:783:99:0,120,1800	6	0	1	0
chr7	101041444	101041444	C	A	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C10028A:p.T3343K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00124597688907	.	.	8.237e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs768595125	7.525e-06	7.524e-06	1.361e-06	1.375e-05	0.0002	4.04e-06	2.95e-06	5.396e-05	4.042e-05	0	0	0	0	0	0.0002	0	1.656e-05	0.0001	6.568e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.005	0.63226	D	.	.	.	0.898	0.49442	P	0.341	0.42432	B	.	.	.	.	1	0.08975	N	2.255	0.64187	M	4.5	0.02032	T	-1.56	0.37759	N	0.193	0.21188	-0.8978	0.48214	T	0.005	0.01651	T	9	0.11797452	0.22294	T	0.001246	0.01658	T	0.035	0.08770	0.253	0.19223	0.0401082797425	0.02173	0.020442480964230205	0.01997	.	.	0.333601295948	0.15478	T	0.017151	0.14044	T	-0.36705	0.03746	T	-0.668164	0.07726	T	0.199246332532122	0.20374	T	0.342966	0.07460	T	0.0593483	0.12049	0.084685065	0.19499	0.0593483	0.12049	0.084685065	0.19498	-8.801	0.66407	D	.	.	0.234	0.46677	B	.	.	0.579356	0.09480	6.256	0.81170478507846777	0.13554	0.00676	0.02907	N	AEFDGBHCI	0.059117	0.11140	N	-0.863422053779345	0.11721	0.5672115	-1.0456762372413	0.08797	0.4343082	0.00707111635756284	0.11378	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.824	0.824	0.17956	-0.371000	0.07569	-0.564000	0.08462	0.311000	0.19140	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	7.506	0.26717	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000529	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	11251.4	175	chr7	101041444	.	C	A	11251.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.3;DP=1230;ExcessHet=0;FS=1.101;MLEAC=1;MLEAF=0.071;MQ=59.96;MQRankSum=0.099;QD=13.75;ReadPosRankSum=-1.127;SOR=0.695	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	6	0	1	0
chr7	101048035	101048035	C	T	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon4:c.C12455T:p.T4152I	.	427	1078	17	0	0	17	0.00782329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.000655838411005	7.7e-05	0.000998403	0.0006	0.0002	0	0.0001	0	0.0001	0.0022	0.0040	0.0005369	83	154602	rs143621027	0.0004	0.0004	0.0003	0.0005	0.0038	0.0003	0.0003	0.0035	0.0033	0	6.849e-05	0	2.554e-05	0	0.0038	0.0001	0.0006	0.0038	0.0002	0.0002	0.0002	0.0002	0.0021	0.0001	0.0001	0.0011	0.0009	4.819e-05	0	0	0	0.0002	0	0.0068	0.0002	0	0.0021	0.101	0.30375	T	.	.	.	0.162	0.28404	B	0.017	0.18140	B	.	.	.	.	1	0.08975	N	1.005	0.25186	L	4.52	0.01997	T	-0.67	0.19297	N	0.098	0.07949	-0.9806	0.34863	T	0.005	0.01615	T	9	0.010363042	0.00231	T	6.56E-4	0.00350	T	0.002	0.00045	.	.	0.0297737177859	0.01360	0.2205527979671089	0.21970	.	.	0.381358623505	0.22449	T	0.018036	0.14606	T	-0.717832	0.00028	T	-0.805365	0.01772	T	0.0204807295817358	0.00748	T	0.165383	0.01527	T	0.029359698	0.02419	0.04025959	0.04309	0.029359698	0.02418	0.04025959	0.04309	-5.502	0.41886	T	.	.	0.113	0.22354	B	.	.	-2.485111	0.00033	0.001	0.16802934236988018	0.00465	0.00141	0.00861	N	AEFDBI	0.028334	0.02477	N	-1.84179151557109	0.00451	0.01938912	-1.99479519721898	0.00314	0.01386845	0.968884821732987	0.29086	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	4.05	-8.11	0.00953	-4.463000	0.00264	-20.000000	0.00162	-1.990000	0.00455	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2984:0.1461:0.0:0.5555	6.274	0.20178	835	0.38313	EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.07143	650.63	37	chr7	101048035	.	C	T	650.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.849;DP=225;ExcessHet=0;FS=6.932;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=2.12;SOR=0.16	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr7	102639168	102639168	G	T	exonic	UPK3BL1	.	nonsynonymous SNV	UPK3BL1:NM_001114403:exon4:c.C517A:p.P173T	.	383	1137	2	0	0	2	0.000878735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.155512545062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.15e-06	3.421e-06	0	4.358e-06	2.527e-05	5.7e-07	1.6e-07	4.2e-06	1.57e-06	0	0	0	0	0	0	9.299e-07	0	2.527e-05	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	0.999792	0.23003	N	3.1	0.87590	M	-0.26	0.67187	T	-4.59	0.78891	D	0.472	0.50778	-0.6491	0.62753	T	0.352	0.71541	T	7	0.31197083	0.48661	T	0.155513	0.83644	D	0.193	0.47281	0.617	0.75116	0.0482279557977	0.04254	0.3472680319508932	0.34640	.	.	0.761209726334	0.76109	T	0.186126	0.53932	T	-0.0552951	0.43639	T	-0.317204	0.42880	T	0.706302881240845	0.41020	D	.	.	.	0.09131583	0.21395	0.1371235	0.32785	0.09131583	0.21394	0.1371235	0.32784	-10.12	0.74627	D	.	.	0.182	0.39511	B	.	.	2.565188	0.33231	19.28	0.99421488818063908	0.63790	0.03522	0.08707	N	AEFDI	0.047620	0.08039	N	-0.418248889542322	0.24829	1.343477	-0.642197557945187	0.18413	0.9835654	4.93248585873633E-6	0.01202	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	1.82	1.82	0.24209	1.607000	0.36447	5.153000	0.47762	0.341000	0.19778	0.014000	0.18986	1.000000	0.68203	0.215000	0.22324	0.0:0.0:1.0:0.0	7.046	0.24227	496	0.76301	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	450.44	38	chr7	102639168	.	G	T	450.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.073;DP=356;ExcessHet=0;FS=0.74;MLEAC=1;MLEAF=0.071;MQ=43.99;MQRankSum=-2.499;QD=3.36;ReadPosRankSum=0.176;SOR=0.604	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	6	0	1	0
chr7	102934282	102934282	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G369C:p.E123D,LRRC17:NM_005824:exon2:c.G369C:p.E123D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00550950631605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.541	0.10678	T	0.0	0.02946	B	0.002	0.06944	B	0.004721	0.33446	N	0.207615	1	0.81001	D	-0.18	0.04256	N	0.26	0.59314	T	2.97	0.00304	N	0.088	0.06587	-0.9900	0.32601	T	0.059	0.24871	T	10	0.0402624	0.02580	T	0.00551	0.14197	T	0.102	0.29158	0.593	0.72247	0.630674063255	0.62765	0.32803734693529624	0.32716	0.23164822142	0.25718	0.39575278759	0.24477	T	0.001762	0.01186	T	-0.263963	0.12439	T	-0.616941	0.11426	T	0.0953304618597031	0.11836	T	0.758424	0.38228	T	0.07261241	0.16165	0.063943654	0.12744	0.07261241	0.16165	0.063943654	0.12743	-1.533	0.03110	T	.	.	0.084	0.33156	B	.;.	.;.	1.403225	0.18178	13.59	0.79853046318071419	0.12930	0.67709	0.33531	D	AEFDBIJ	0.199371	0.32618	N	-0.6476857485773	0.17528	0.9027043	-0.402716744649766	0.24916	1.367225	0.999999761740133	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	3.61	0.40494	0.038000	0.13749	0.020000	0.13575	0.676000	0.76740	0.830000	0.30133	0.455000	0.24973	0.993000	0.69303	0.1452:0.1381:0.7166:0.0	7.418	0.26231	455	0.79073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	412.11	59	chr7	102934282	.	G	C	412.11	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.405;DP=373;ExcessHet=2.5225;FS=246.061;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.64;ReadPosRankSum=1.36;SOR=7.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,30:151:99:0|1:102934282_G_C:252,0,4165:102934282	3	0	4	0
chr7	102934283	102934283	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G370C:p.A124P,LRRC17:NM_005824:exon2:c.G370C:p.A124P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.686	0.102285869568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.642e-05	1.362e-06	1.376e-06	8.996e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000018	0.62929	D	0.000000	1	0.81001	D	2.48	0.72069	M	0.09	0.61443	T	-4.69	0.79743	D	0.866	0.91621	-0.0790	0.80575	T	0.414	0.76122	T	10	0.83823025	0.82978	D	0.102286	0.77566	D	0.686	0.88538	0.608	0.74063	0.884098710478	0.88296	0.8411723386298476	0.84077	1.02869255285	0.75355	0.595906376839	0.52327	T	0.053493	0.29459	T	0.351657	0.86616	D	0.267354	0.86441	D	0.998028337955475	0.93033	D	0.90001	0.65919	D	0.958163	0.97095	0.93957394	0.97739	0.958163	0.97095	0.93957394	0.97740	-8.842	0.66674	D	.	.	0.973	0.90137	P	.;.	.;.	4.615823	0.73244	26.0	0.99771405677723168	0.85918	0.99139	0.91801	D	AEFDBIJ	0.974099	0.99537	D	0.77679732466033	0.84635	8.343356	0.724224124696295	0.84219	8.231214	0.999999999999933	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	4.65	0.57626	8.066000	0.89276	4.610000	0.44033	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0697:0.0:0.9303:0.0	14.775	0.69347	455	0.79073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	459.12	61	chr7	102934283	.	G	C	459.12	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.418;DP=470;ExcessHet=2.5225;FS=339.92;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=0.875;SOR=8.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,30:151:99:0|1:102934282_G_C:252,0,4165:102934282	3	0	4	0
chr7	103557156	103557156	G	A	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon38:c.C5618T:p.T1873I,RELN:NM_173054:exon38:c.C5618T:p.T1873I	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	5	1441	66	10	0	86	0.0289757	.	.	.	177377	Norman-Roberts_syndrome|Familial_temporal_lobe_epilepsy_7|RELN-related_disorder|not_provided|not_specified	MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.064	.	0.0023	0.00259585	0.0044	0.0006	0.0013	0	0.0011	0.0038	0.0033	0.0149	0.0039974	618	154602	rs41275239	0.0036	0.0036	0.0031	0.0041	0.0156	0.0035	0.0035	0.0149	0.0146	0.0005	0.0010	0.0089	2.522e-05	0.0008	0.0125	0.0029	0.0039	0.0156	0.0027	0.0027	0.0025	0.0029	0.0193	0.0025	0.0024	0.0161	0.0150	0.0006	0.0154	0.0009	0.0081	0	0.0004	0.0102	0.0033	0.0033	0.0193	0.409	0.10659	T	0.092	0.39954	T	0.001	0.12996	B	0.002	0.12992	B	0.000047	0.53742	D	0.167803	0.995457	0.42699	D	0.665	0.16292	N	1.88	0.23884	T	-1.15	0.29525	N	0.297	0.36884	-1.1066	0.03378	T	0.063	0.26029	T	10	0.006139159	0.00138	T	.	.	.	0.064	0.18567	.	.	0.151262610727	0.14761	0.36964579770135547	0.36878	0.185958582119	0.20903	0.539009332657	0.44306	T	0.057476	0.30576	T	-0.537201	0.00348	T	-0.532104	0.19077	T	0.015456933726748	0.00347	T	0.867413	0.56831	D	0.14101699	0.32510	0.17155404	0.39346	0.157696	0.35519	0.17927895	0.40651	-3.941	0.22918	T	0.10417546178359656	0.08118	0.088	0.11606	B	.;.;.	.;.;.	3.200901	0.43526	21.8	0.99059792804306646	0.51459	0.94579	0.61626	D	AEFBI	0.811231	0.73427	D	0.110212383688809	0.46938	2.926677	0.307183394079608	0.55960	3.758986	0.834191241572407	0.24747	0.536767	0.22168	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.77	5.77	0.91077	6.195000	0.72012	11.931000	0.99922	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.07:0.0:0.93:0.0	14.526	0.67476	901	0.24189	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007560	0.000000	0.004076	0.005848	0.000000	0.000000	0.012195	0.026515	0.07143	868.83	34	chr7	103557156	.	G	A	868.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.662;DP=219;ExcessHet=0;FS=11.034;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=1.42;SOR=0.109	GT:AD:DP:GQ:PL	0/1:24,32:56:99:879,0,660	6	0	1	0
chr7	103566398	103566398	G	A	exonic	RELN	.	stopgain	RELN:NM_005045:exon33:c.C4762T:p.Q1588X,RELN:NM_173054:exon33:c.C4762T:p.Q1588X	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.94	0.94668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.622132	0.98769	D	0.655873	0.98747	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive	High;.;High	10.317290	0.99692	46	0.99813585381247794	0.89708	0.98861	0.87830	D	AEFBI	0.447576	0.50316	N	1.28705984634021	0.99976	36.48506	1.16624944771923	0.99982	37.77415	0.99999994697988	0.74766	0.625279	0.40028	0	0.59043	0.45803	0	0.573888	0.23631	0	0.59522	0.37078	0	.	.	6.08	6.08	0.98982	9.332000	0.96418	11.922000	0.99834	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	20.663	0.99665	891	0.26808	.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	659.27	29	chr7	103566398	.	G	A	659.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.77;DP=192;ExcessHet=0;FS=1.206;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-1.931;SOR=0.446	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	5	0	1	1
chr7	103596518	103596518	G	T	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon25:c.C3477A:p.N1159K,RELN:NM_173054:exon25:c.C3477A:p.N1159K	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	1	1499	22	0	0	22	0.00728477	.	.	.	265480	Norman-Roberts_syndrome|Familial_temporal_lobe_epilepsy_7|not_specified|Self-limited_epilepsy_with_centrotemporal_spikes|RELN-related_disorder|not_provided	MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MedGen:CN169374|MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.100	0.0123328672847	0.0024	0.000998403	0.0017	0.0004	0.0011	0	0.0003	0.0024	0.0022	0.0017	0.0016753	259	154602	rs114684479	0.0017	0.0017	0.0017	0.0018	0.0085	0.0017	0.0017	0.0066	0.0059	0.0004	0.0011	0.0036	0	0.0002	0.0085	0.0018	0.0023	0.0018	0.0014	0.0014	0.0017	0.0012	0.0023	0.0013	0.0012	0.0020	0.0019	0.0004	0	0.0014	0.0026	0	0	0.0068	0.0023	0.0024	0.0012	0.065	0.36310	T	0.006	0.70582	D	0.993	0.70673	D	0.968	0.71741	D	0.000000	0.84330	D	0.000000	0.999316	0.46639	D	2.135	0.59519	M	1.93	0.40749	T	-1.97	0.45587	N	0.802	0.79792	-0.7423	0.58334	T	0.222	0.58562	T	10	0.034067214	0.01602	T	0.012333	0.30806	T	0.100	0.28662	0.443	0.49975	0.582439298246	0.57915	0.7160210259459234	0.71545	0.334481402092	0.35464	0.660431861877	0.61471	T	0.12837	0.45598	T	-0.433301	0.01416	T	-0.401041	0.33264	T	0.0202194386212343	0.00722	T	0.926307	0.72903	D	0.21267676	0.43626	0.23037976	0.48138	0.19648728	0.41478	0.23178662	0.48320	-6.371	0.49283	T	0.5262139601829272	0.59774	0.571	0.67673	P	.;.;.	.;.;.	4.014742	0.59257	24.1	0.99859663217484318	0.93820	0.93134	0.57415	D	AEFI	0.738209	0.68316	D	0.675560567315045	0.78031	6.790338	0.673584547766623	0.80377	7.285509	0.845672714566861	0.24948	0.615465	0.37627	0	0.573888	0.26702	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.81	5.81	0.92413	2.171000	0.42080	5.969000	0.51963	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1387:0.0:0.8613:0.0	11.424	0.49241	901	0.24189	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010574	0.010101	0.014946	0.011696	0.100000	0.000000	0.009146	0.007576	0.07143	1011.44	87	chr7	103596518	.	G	T	1011.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.86;DP=279;ExcessHet=0;FS=1.761;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=3.19;SOR=0.97	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1299	6	0	1	0
chr7	103596538	103596538	C	T	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon25:c.G3457A:p.V1153I,RELN:NM_173054:exon25:c.G3457A:p.V1153I	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	2	1518	2	0	0	2	0.000658328	.	.	.	1931894	Familial_temporal_lobe_epilepsy_7|Norman-Roberts_syndrome	MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.020	0.003261723198	7.7e-05	0.000399361	3.297e-05	9.61e-05	0	0.0003	0	0	0	0	3.88e-05	6	154602	rs116119591	1.779e-05	1.779e-05	1.77e-05	1.788e-05	0.0003	1.238e-05	1.051e-05	0.0002	0.0001	0	0	0	0.0003	0	0.0002	1.079e-05	3.312e-05	0	3.94e-05	3.937e-05	3.855e-05	4.029e-05	0.0006	1.715e-05	1.129e-05	0.0002	8.384e-05	2.407e-05	0	0	0	0.0006	0	0	2.94e-05	0	0	0.23	0.18889	T	0.176	0.29843	T	0.009	0.21875	B	0.005	0.16862	B	0.004999	0.33199	N	0.285437	0.508116	0.31670	N	1.78	0.46185	L	1.24	0.36691	T	-0.35	0.12847	N	0.24	0.27554	-1.0165	0.24852	T	0.069	0.28379	T	10	0.06616318	0.09034	T	0.003262	0.07207	T	0.020	0.03691	.	.	0.257342827899	0.25358	0.3734307665235957	0.37257	0.13413337241	0.15111	0.324957668781	0.14172	T	0.125979	0.45206	T	-0.498874	0.00580	T	-0.611644	0.11852	T	0.0369359065022299	0.03144	T	0.827517	0.49142	T	0.030380672	0.02690	0.037312515	0.03358	0.030380672	0.02690	0.037312515	0.03358	-6.723	0.51984	T	0.3125499133283775	0.41047	0.062	0.01215	B	.;.;.	.;.;.	1.274846	0.16738	12.73	0.98225722421226747	0.39343	0.47568	0.28012	N	AEFI	0.164558	0.29096	N	-0.538220463119223	0.20855	1.102505	-0.493866591177376	0.22322	1.211849	0.00764009263761959	0.11511	0.615465	0.37627	0	0.573888	0.26702	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.81	-0.263	0.12314	0.856000	0.27473	-1.554000	0.05183	0.599000	0.40250	0.416000	0.26298	0.000000	0.08366	0.943000	0.48514	0.0:0.6196:0.0:0.3804	10.605	0.44580	901	0.24189	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	1902.44	43	chr7	103596538	.	C	T	1902.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.73;DP=335;ExcessHet=0;FS=1.329;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=1.48;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1299	6	0	1	0
chr7	105613788	105613788	C	T	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_001318229:exon10:c.G1898A:p.R633Q	.	343	1128	47	4	0	55	0.0237992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	.	.	0.00279553	0.0070	0.0033	0.0118	0	0.0031	0.0122	0.0087	0.0038	0.0023156	358	154602	rs150948758	0.0075	0.0072	0.0077	0.0074	0.0488	0.0074	0.0074	0.0440	0.0422	0.0030	0.0061	0.0188	5.605e-05	0.0016	0.0488	0.0079	0.0091	0.0043	0.0061	0.0061	0.0061	0.0062	0.0112	0.0058	0.0057	0.0099	0.0093	0.0019	0.0011	0.0112	0.0161	0.0004	9.411e-05	0.0748	0.0082	0.0104	0.0039	1.0	0.00964	T	0.586	0.08332	T	.	.	.	.	.	.	.	.	.	.	1	0.20152	N	.	.	.	2.3	0.16953	T	-0.23	0.10656	N	.	.	-0.9613	0.38936	T	0.010	0.03719	T	8	0.0031974912	0.00054	T	.	.	.	0.003	0.00094	.	.	0.285698343383	0.28168	.	.	.	.	.	.	.	0.00299	0.02391	T	-0.698583	0.00037	T	-0.768424	0.02820	T	0.00153828558999846	0.00016	T	0.530047	0.17581	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.04356	B	.;.	.;.	0.257686	0.06365	2.828	0.33731589378881932	0.02025	0.00246	0.01361	N	AEFDBCI	0.020237	0.00780	N	-1.6761752421521	0.00930	0.04025665	-1.77662531413548	0.00837	0.03738711	0.999917394399403	0.45857	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.41	-6.95	0.01470	-0.178000	0.09775	-0.722000	0.07700	-1.563000	0.00944	0.264000	0.24988	0.002000	0.18203	0.240000	0.23001	0.1218:0.3483:0.124:0.4059	2.482	0.04309	921	0.19240	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	738.44	35	chr7	105613788	.	C	T	738.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.755;DP=299;ExcessHet=0;FS=3.524;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-0.786;SOR=0.764	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1151	6	0	1	0
chr7	105614066	105614066	G	C	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_138495:exon8:c.C1896G:p.D632E,ATXN7L1:NM_001318229:exon10:c.C1620G:p.D540E,ATXN7L1:NM_001385596:exon10:c.C2268G:p.D756E,ATXN7L1:NM_020725:exon10:c.C2268G:p.D756E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00424335358371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.12469	T	1.0	0.02548	T	0.005	0.18474	B	0.004	0.16460	B	0.000132	0.49741	D	0.138750	0.519982	0.31889	D	0.26	0.09897	N	1.61	0.28391	T	-0.19	0.09965	N	0.147	0.15046	-1.0469	0.15274	T	0.041	0.17573	T	10	0.10052198	0.18311	T	0.004243	0.10247	T	0.064	0.18567	0.097	0.01334	0.449283877778	0.44552	0.20088776075350473	0.20005	0.385026323921	0.39793	0.676552057266	0.63775	T	7.73E-4	0.01826	T	-0.215272	0.18644	T	-0.547	0.17614	T	0.663197338581085	0.39037	D	0.756224	0.39120	T	0.07353326	0.16438	0.0722084	0.15551	0.07353326	0.16438	0.0722084	0.15551	-4.221	0.27055	T	.	.	0.124	0.55438	B	.;.;.;.	.;.;.;.	2.105740	0.26793	17.24	0.47757704324101108	0.03930	0.83841	0.42935	D	AEFDBCI	0.391753	0.47007	N	-0.273951466123109	0.30158	1.678963	-0.0533374508611656	0.37345	2.185429	0.998690061336663	0.37477	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	5.41	4.33	0.51083	2.710000	0.46837	5.043000	0.46929	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.081:0.0:0.7785:0.1405	9.900	0.40514	921	0.19240	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	38.46	74	chr7	105614066	.	G	C	38.46	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-2.735;DP=509;ExcessHet=0;FS=176.206;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=0.19;SOR=7.824	GT:AD:DP:GQ:PL	./.:102,0:102:0:0,0,1804	4	0	1	2
chr7	105975029	105975029	T	A	exonic	CDHR3	.	nonsynonymous SNV	CDHR3:NM_152750:exon2:c.T232A:p.S78T	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00468014231532	8.3e-05	0.000199681	0.0001	0	0	0	0	0.0002	0	0.0001	0.0001164	18	154602	rs370097298	6.774e-05	6.772e-05	4.493e-05	9.078e-05	0.0007	5.671e-05	5.261e-05	0.0002	0.0001	0	6.708e-05	0	0	0	0.0007	6.116e-05	0.0001	0.0002	4.596e-05	4.593e-05	2.57e-05	6.712e-05	0.0001	2.108e-05	1.526e-05	4.766e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0	0	0.262	0.16466	T	0.413	0.14412	T	0.002	0.09854	B	0.004	0.10090	B	0.213060	0.16318	N	0.576440	1	0.81001	D	2.625	0.76847	M	2.64	0.12780	T	-1.18	0.30140	N	0.195	0.21449	-1.0420	0.16711	T	0.026	0.11220	T	10	0.10707313	0.19872	T	0.00468	0.11628	T	0.056	0.15993	.	.	0.0611884634855	0.05136	0.4326430336068601	0.43181	0.0332647967301	0.03475	0.354618132114	0.18600	T	8.99E-4	0.00456	T	-0.488813	0.00660	T	-0.660488	0.08233	T	0.0672638341784477	0.08261	T	0.414759	0.10842	T	0.099753074	0.23545	0.06325873	0.12503	0.099753074	0.23545	0.06325873	0.12503	-3.947	0.23008	T	.	.	0.081	0.08224	B	.	.	0.649064	0.10174	6.917	0.61059455812475905	0.06615	0.32298	0.24551	N	AEFBI	0.108438	0.21572	N	-1.03210011031136	0.07943	0.3707557	-1.00436166380734	0.09689	0.4834978	0.10552742435689	0.16505	0.549168	0.22868	0	0.563428	0.19063	0	0.491513	0.07944	0	0.616125	0.45549	0	.	.	5.46	0.16	0.14261	0.790000	0.26562	2.390000	0.32535	-0.697000	0.04075	0.809000	0.29839	1.000000	0.68203	0.044000	0.14658	0.2431:0.0685:0.1267:0.5618	2.89	0.05325	922	0.19044	Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.07143	1169.53	33	chr7	105975029	.	T	A	1169.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.53;DP=264;ExcessHet=0;FS=6.483;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-1.07;SOR=1.314	GT:AD:DP:GQ:PL	0/1:46,51:97:99:1180,0,1112	6	0	1	0
chr7	107931500	107931500	C	T	exonic	LAMB1	.	nonsynonymous SNV	LAMB1:NM_002291:exon29:c.G4393A:p.V1465I	Lissencephaly 5, Autosomal recessive	2	1518	2	0	0	2	0.000658328	0.8583	0.656	.	513572	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.36509	T	0.093	0.39799	T	0.075	0.24198	B	0.171	0.35348	B	.	.	.	.	1	0.81001	D	2.105	0.58435	M	1.47	0.31987	T	-0.6	0.17834	N	0.229	0.30687	-1.0210	0.23389	T	0.098	0.36754	T	9	0.17468458	0.32361	T	0.01732	0.38971	T	0.050	0.13987	0.271	0.22052	0.28722502521	0.28325	0.40996437075337444	0.40912	0.0797094319076	0.08973	0.37497895956	0.21543	T	0.101402	0.40812	T	-0.16631	0.25795	T	-0.476669	0.24801	T	0.753503630586503	0.43481	D	0.846915	0.52723	T	0.13003767	0.30354	0.12462034	0.30035	0.09853129	0.23241	0.12143154	0.29297	-5.703	0.43721	T	.	.	0.226	0.47481	B	.;.	.;.	3.669642	0.52172	23.2	0.99560194598161955	0.71707	0.92804	0.56586	D	AEFBCI	0.606801	0.59701	D	0.0608397925909617	0.44643	2.734573	0.195551139691053	0.49602	3.161489	0.999999999737319	0.74766	0.706298	0.61202	0	0.601575	0.49859	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.62	4.75	0.59954	5.536000	0.66891	3.367000	0.37903	0.530000	0.24713	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.9291:0.0:0.0709	14.317	0.66014	748	0.52143	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	403.63	46	chr7	107931500	.	C	T	403.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.659;DP=228;ExcessHet=0;FS=1.152;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=-1.351;SOR=0.509	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1102	6	0	1	0
chr7	107935509	107935509	G	A	exonic	LAMB1	.	nonsynonymous SNV	LAMB1:NM_002291:exon27:c.C4094T:p.S1365F	Lissencephaly 5, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	3518901	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.096	0.0124858841587	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201668649	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.024	0.56640	D	0.771	0.43934	P	0.431	0.45421	B	.	.	.	.	0.996531	0.43261	D	1.79	0.46772	L	1.37	0.34253	T	-3.23	0.65056	D	0.225	0.28616	-1.0148	0.25400	T	0.109	0.39320	T	9	0.18159473	0.33398	T	0.012486	0.31109	T	0.096	0.27654	0.216	0.13643	0.491863012465	0.48820	0.3423830466667583	0.34151	0.179822720572	0.20224	0.40273296833	0.25449	T	0.328186	0.69862	T	-0.16423	0.26111	T	-0.473681	0.25121	T	0.97940731048584	0.72814	D	0.885611	0.61095	D	0.23223415	0.46008	0.29268664	0.55296	0.23223415	0.46008	0.29268664	0.55295	-4.473	0.30534	T	.	.	0.125	0.26294	B	.;.	.;.	3.742782	0.53604	23.4	0.99605680491501436	0.74516	0.95442	0.64737	D	AEFDBCIJ	0.664004	0.63332	D	0.317907105610071	0.57069	3.872829	0.42715085178924	0.63261	4.55655	0.999999998667581	0.74766	0.75658	0.98901	0	0.550933	0.16991	0	0.858454	0.99976	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	5.051000	0.64074	7.477000	0.59216	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.852000	0.40310	0.0:0.0:1.0:0.0	19.401	0.94618	749	0.51929	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	786.44	71	chr7	107935509	.	G	A	786.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.693;DP=273;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.961;SOR=0.741	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr7	107937212	107937212	G	C	exonic	LAMB1	.	nonsynonymous SNV	LAMB1:NM_002291:exon26:c.C3827G:p.S1276C	Lissencephaly 5, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.0154261369968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.63226	D	0.017	0.60337	D	0.927	0.51527	P	0.478	0.47030	P	.	.	.	.	1	0.08975	N	2.14	0.59869	M	1.36	0.34452	T	-3.13	0.63901	D	0.267	0.31253	-1.0346	0.18983	T	0.086	0.33298	T	9	0.14093909	0.26784	T	0.015426	0.36156	T	0.140	0.37593	0.367	0.37524	0.353125101423	0.34923	0.14100992580359425	0.14023	0.15236135087	0.17194	0.283424139023	0.07975	T	0.331668	0.70172	T	-0.07443	0.40615	T	-0.34469	0.39814	T	0.531155090704422	0.33777	D	0.80472	0.45238	T	0.22046813	0.44603	0.22438765	0.47350	0.22046813	0.44603	0.22438765	0.47349	-9.842	0.72960	D	.	.	0.171	0.42491	B	.;.	.;.	2.077743	0.26423	17.11	0.98500200650852121	0.42204	0.46521	0.27778	N	AEFDBCI	0.245373	0.36632	N	-0.257854270998259	0.30791	1.720204	-0.268367132475962	0.29147	1.630669	0.999996486782026	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.95	4.13	0.47661	0.686000	0.25072	2.976000	0.35819	0.676000	0.76740	0.001000	0.13787	0.572000	0.25577	0.991000	0.66497	0.0686:0.0:0.667:0.2644	8.873	0.34488	739	0.53257	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	925.44	72	chr7	107937212	.	G	C	925.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.453;DP=256;ExcessHet=0;FS=7.826;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.215;SOR=0.731	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1324	6	0	1	0
chr7	108103155	108103155	C	G	exonic	LAMB4	.	nonsynonymous SNV	LAMB4:NM_001318046:exon10:c.G1069C:p.G357R,LAMB4:NM_001318047:exon10:c.G1069C:p.G357R,LAMB4:NM_001318048:exon10:c.G1069C:p.G357R,LAMB4:NM_007356:exon10:c.G1069C:p.G357R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.647	0.076013556721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.013415	0.28850	N	0.241831	1	0.81001	D	3.87	0.95912	H	-0.52	0.70717	T	-7.51	0.95074	D	0.897	0.97095	0.418	0.89375	D	0.611	0.86241	D	10	0.98636055	0.98941	D	0.076014	0.72428	D	0.647	0.86636	0.945	0.99302	0.270001397563	0.26616	0.8722860492838332	0.87194	0.426884383221	0.43051	0.606771588326	0.53860	T	0.332738	0.70267	T	0.348598	0.86408	D	0.262961	0.86229	D	0.998145937919617	0.93349	D	0.89941	0.78341	D	0.5412172	0.69464	0.5835631	0.75855	0.5412172	0.69465	0.5835631	0.75856	-12.661	0.87919	D	.	.	0.476	0.63471	A	.;.;.	.;.;.	3.647193	0.51748	23.1	0.99913637605536076	0.98238	0.93612	0.58695	D	AEFDBHCI	0.536587	0.55474	D	0.465797739649015	0.65106	4.780791	0.261361375336425	0.53298	3.499417	0.999999998299804	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.3	3.41	0.38145	3.914000	0.56114	0.426000	0.18273	0.599000	0.40250	0.982000	0.35529	0.001000	0.17328	0.767000	0.36405	0.1528:0.8472:0.0:0.0	13.962	0.63694	692	0.58729	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	610.27	34	chr7	108103155	.	C	G	610.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.61;DP=259;ExcessHet=0;FS=0.877;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.63;ReadPosRankSum=-0.257;SOR=0.534	GT:AD:DP:GQ:PL	0/1:49,31:80:99:620,0,1283	5	0	1	1
chr7	108565082	108565082	T	-	exonic	THAP5	.	frameshift deletion	THAP5:NM_001130475:exon3:c.297delA:p.K99Nfs*25,THAP5:NM_182529:exon3:c.171delA:p.K57Nfs*25	.	540	978	4	0	0	4	0.00204082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0162	.	0.0012	0	0.0026	0.0017	0	0.0009	0	0.0026	3.84e-05	1	26028	rs745348876	0.0001	0.0014	0.0001	0.0001	0.0007	9.619e-05	9.063e-05	0.0004	0.0004	0.0002	0.0007	0.0002	8.534e-05	6.223e-05	0.0007	8.867e-05	7.137e-05	0.0002	2.649e-05	6.585e-05	1.295e-05	4.067e-05	0.0002	8.19e-06	5.17e-06	8.07e-06	3.02e-06	4.87e-05	0	6.61e-05	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	96.2	34	chr7	108565081	.	AT	A	96.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0;DP=200;ExcessHet=0.3476;FS=2.066;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=4.18;ReadPosRankSum=0.15;SOR=0.193	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1255	5	0	2	0
chr7	111122864	111122864	G	A	exonic	LRRN3	.	nonsynonymous SNV	LRRN3:NM_018334:exon2:c.G92A:p.R31Q,LRRN3:NM_001099658:exon3:c.G92A:p.R31Q,LRRN3:NM_001099660:exon4:c.G92A:p.R31Q	.	432	1085	4	1	0	6	0.00275735	.	.	.	699749	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.328	.	0.0002	0.00978435	0.0075	0.0003	0.0722	0.0064	0	0.0001	0.0011	0.0007	0.0072121	1115	154602	rs186329804	0.0024	0.0024	0.0027	0.0020	0.0609	0.0023	0.0023	0.0590	0.0582	0.0003	0.0609	3.827e-05	0.0114	0	0.0007	6.386e-05	0.0022	0.0006	0.0043	0.0043	0.0035	0.0051	0.0376	0.0040	0.0039	0.0351	0.0341	0.0006	0	0.0376	0	0.0062	0	0	0.0001	0.0043	0.0010	0.67	0.04561	T	0.62	0.07972	T	0.0	0.02946	B	0.001	0.04355	B	0.309509	0.14458	N	0.632628	0.999999	0.58761	D	-1.01	0.01154	N	-4.06	0.96529	D	0.33	0.03889	N	0.096	0.07673	-0.4910	0.68973	T	0.358	0.72061	T	10	0.0031238496	0.00052	T	.	.	.	0.328	0.65026	.	.	0.541484462481	0.53801	0.1035811217074937	0.10288	0.258577922938	0.28418	0.21241697669	0.00918	T	0.002311	0.01710	T	-0.328934	0.06192	T	-0.198153	0.54822	T	0.00234503173460957	0.00024	T	0.253675	0.06803	T	0.03389035	0.03698	0.03859036	0.03760	0.03389035	0.03698	0.03859036	0.03760	-3.509	0.16557	T	.	.	0.058	0.02257	B	.;.;.;.	.;.;.;.	1.316510	0.17203	13.02	0.84370985193853199	0.15253	0.32858	0.24687	N	AEFGBI	0.026781	0.02071	N	-0.770272381231916	0.14090	0.6990436	-0.558908261407429	0.20569	1.108814	3.45047923363698E-4	0.06626	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.98	0.942	0.18648	2.868000	0.48134	3.269000	0.37146	-0.046000	0.17342	0.998000	0.41325	0.978000	0.30204	0.988000	0.63387	0.6285:0.2443:0.1272:0.0	8.346	0.31437	628	0.65206	Leucine-rich repeat N-terminal domain;Leucine-rich repeat N-terminal domain;Leucine-rich repeat N-terminal domain;Leucine-rich repeat N-terminal domain|Leucine-rich repeat N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	104.44	34	chr7	111122864	.	G	A	104.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.703;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.439;SOR=0.799	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1222	6	0	1	0
chr7	116699194	116699194	T	C	exonic	MET	.	nonsynonymous SNV	MET:NM_000245:exon2:c.T110C:p.V37A,MET:NM_001127500:exon2:c.T110C:p.V37A,MET:NM_001324401:exon2:c.T110C:p.V37A	Hepatocellular carcinoma, childhood type, somatic;Renal cell carcinoma, papillary, 1, familial and somatic	0	1516	5	1	0	7	0.00230339	.	.	.	50049	Hereditary_cancer-predisposing_syndrome|Renal_cell_carcinoma|MET-related_disorder|not_specified|not_provided|Papillary_renal_cell_carcinoma_type_1|Hereditary_cancer	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Human_Phenotype_Ontology:HP:0005584,Human_Phenotype_Ontology:HP:0006720,MONDO:MONDO:0005086,MeSH:D002292,MedGen:C0007134,Orphanet:217071|.|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0011797,MedGen:C1336839,OMIM:605074,Orphanet:47044|MedGen:C1333600	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.142	0.0291073682577	8.2e-05	0.00119808	0.0011	0	0	0	0	0.0001	0.0011	0.0076	0.0009314	144	154602	rs201315884	0.0006	0.0006	0.0004	0.0008	0.0070	0.0005	0.0005	0.0065	0.0063	2.988e-05	4.475e-05	0.0013	0	0	0.0016	0.0001	0.0008	0.0070	0.0002	0.0002	0.0002	0.0003	0.0052	0.0002	0.0002	0.0036	0.0031	2.406e-05	0	6.541e-05	0.0009	0	0	0	0.0001	0	0.0052	0.032	0.44694	D	0.078	0.46862	T	0.113	0.26349	B	0.031	0.31289	B	0.000007	0.62929	D	0.062168	0.503033	0.31757	D	1.79	0.46772	L	2.64	0.73311	T	-0.72	0.35792	N	0.276	0.33469	-0.4450	0.70565	T	0.353	0.71619	T	10	0.005613953	0.00124	T	0.029107	0.51676	D	0.142	0.37995	.	.	0.35158688536	0.34763	0.4757574709307922	0.47494	0.399774121659	0.40994	0.340591311455	0.16527	T	0.379824	0.74249	T	-0.333396	0.05858	T	-0.247812	0.50034	T	0.0470295077618543	0.04971	T	0.573243	0.20505	T	0.090709254	0.21233	0.098195896	0.23403	0.083677694	0.19332	0.1066093	0.25650	-5.846	0.44973	T	0.32103672873341865	0.41917	0.263	0.49778	B	.;.;.;.	.;.;.;.	3.411769	0.47334	22.4	0.98606696957422291	0.43585	0.96974	0.71966	D	AEFDGBHCI	0.583254	0.58255	D	0.122565792576668	0.47518	2.976309	0.244613026578497	0.52343	3.409818	0.999999999992328	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.675528	0.61593	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	5.573000	0.67117	6.203000	0.54917	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.838000	0.39538	0.0:0.0:0.1363:0.8637	12.801	0.56967	636	0.64483	Sema domain;Sema domain;Sema domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	59.44	34	chr7	116699194	.	T	C	59.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.792;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.49;ReadPosRankSum=-1.368;SOR=1.179	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1210	6	0	1	0
chr7	117426898	117426898	T	C	exonic	ASZ1	.	nonsynonymous SNV	ASZ1:NM_001301821:exon2:c.A143G:p.E48G,ASZ1:NM_130768:exon2:c.A143G:p.E48G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319	0.0682668240483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.138	0.33780	T	0.996	0.68779	D	0.873	0.61978	P	0.002592	0.36278	N	0.265310	0.537332	0.32025	D	1.495	0.37439	L	-0.36	0.68754	T	-2.66	0.56945	D	0.656	0.66615	-0.1299	0.79404	T	0.390	0.74401	T	10	0.6844036	0.71473	D	0.068267	0.70401	D	0.319	0.64112	0.383	0.40134	0.718152632897	0.71567	0.4531637891309797	0.45234	0.0585159383565	0.06489	0.435192465782	0.29919	T	0.138	0.47063	T	0.0205102	0.54451	T	-0.208315	0.53856	T	0.879203379154205	0.52916	D	0.764224	0.39120	T	0.15210795	0.34545	0.21204369	0.45657	0.15210795	0.34544	0.21204369	0.45656	-8.516	0.64535	D	.	.	0.100	0.17189	B	.	.	4.446111	0.69071	25.3	0.99893688066384656	0.96742	0.82402	0.41635	D	AEFDBHCI	0.354985	0.44688	N	0.472699111908038	0.65502	4.830553	0.418993089936302	0.62747	4.495637	0.0801284946905584	0.15837	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.45	4.28	0.50183	4.432000	0.59666	6.113000	0.53689	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.1789:0.8211	9.450	0.37887	525	0.74024	Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.23	9	chr7	117426898	.	T	C	33.23	.	AC=2;AF=0.143;AN=14;DP=75;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.62;SOR=0.693	GT:AD:DP:GQ:PL	0/0:15,0:15:45:0,45,375	6	1	0	0
chr7	117542062	117542062	C	T	exonic	CFTR	.	nonsynonymous SNV	CFTR:NM_000492:exon9:c.C1163T:p.T388M	Congenital bilateral absence of vas deferens, Autosomal recessive;Cystic fibrosis, Autosomal recessive;Sweat chloride elevation without CF (3)	3	1510	9	0	0	9	0.00297128	.	.	.	487199	CFTR-related_disorder|not_specified|not_provided|Hereditary_pancreatitis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|Bronchiectasis_with_or_without_elevated_sweat_chloride_1|Cystic_fibrosis	MedGen:C5924204|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180,Orphanet:48|MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400,Orphanet:60033|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.601	0.423738431628	7.7e-05	.	0.0001	0	0.0002	0	0	0.0001	0.0011	0.0003	0.00011	17	154602	rs143860237	0.0001	0.0001	8.381e-05	0.0001	0.0023	0.0001	9.575e-05	0.0013	0.0011	0	0.0001	0	0.0001	0	0.0023	8.078e-05	0.0001	0.0005	0.0001	0.0001	0.0001	0.0001	0.0002	7.095e-05	5.75e-05	7.91e-05	5.995e-05	7.238e-05	0	0.0001	0	0.0002	0	0	0.0001	0	0.0002	0.113	0.29158	T	0.116	0.36497	T	0.65	0.40644	P	0.1	0.30674	B	0.000000	0.84330	N	0.092382	0.999692	0.48338	D	1.26	0.31868	L	-3.03	0.92613	D	-1.06	0.27669	N	0.804	0.79986	0.235	0.86503	D	0.603	0.85872	D	10	0.2851867	0.46101	T	0.423738	0.93845	D	0.601	0.84237	.	.	0.992697746924	0.99261	0.7520671217846666	0.75153	0.00540111965589	0.00476	0.415776461363	0.27255	T	0.573689	0.85927	D	0.0795423	0.61987	D	0.186999	0.82398	D	0.0530084223274266	0.06021	T	0.90471	0.66491	D	0.17670465	0.38597	0.16910748	0.38920	0.18912923	0.40441	0.23801953	0.49113	-6.278	0.48548	T	0.5950192153524002	0.66188	0.098	0.30130	B	.;.;.;.;.	.;.;.;.;.	3.990498	0.58732	24.0	0.99025538745849717	0.50677	0.90432	0.51603	D	AEFI	0.674434	0.64016	D	0.161805877816176	0.49372	3.138372	0.26952030121205	0.53768	3.544157	0.504607880583997	0.20970	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.645665	0.59343	0	.	.	5.62	4.73	0.59485	4.064000	0.57221	4.841000	0.45285	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9259:0.0:0.0741	13.971	0.63755	779	0.47767	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	433.46	28	chr7	117542062	.	C	T	433.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.753;DP=202;ExcessHet=0;FS=1.562;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=2.38;SOR=1.179	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,937	6	0	1	0
chr7	121329800	121329800	G	T	exonic	WNT16	.	nonsynonymous SNV	WNT16:NM_016087:exon2:c.G299T:p.G100V,WNT16:NM_057168:exon2:c.G329T:p.G110V	.	.	.	.	.	.	.	.	.	.	.	4105386	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.930	0.513959680758	7.7e-05	.	8.643e-05	0	0	0.0001	0	7.933e-05	0	0.0002	7.76e-05	12	154602	rs374438180	5.648e-05	6.02e-05	4.25e-05	7.059e-05	0.0006	4.641e-05	4.265e-05	0.0002	0.0002	0	2.236e-05	0	2.519e-05	0	0.0006	4.227e-05	4.978e-05	0.0003	5.254e-05	5.253e-05	3.852e-05	6.722e-05	0.0001	2.556e-05	1.829e-05	4.764e-05	3.338e-05	0	0	0	0	0	0	0	0.0001	0.0005	0	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.986	0.76916	D	0.000004	0.62929	D	0.105878	1	0.81001	D	4.025	0.96902	H	-1.03	0.76430	T	-6.73	0.92648	D	0.937	0.96072	0.579	0.91626	D	0.697	0.89539	D	10	0.9784225	0.97717	D	0.51396	0.95344	D	0.930	0.98341	.	.	0.937187609332	0.93654	0.8459104282893624	0.84552	0.627797579634	0.56854	0.667937934399	0.62543	T	0.862641	0.96965	D	0.20774	0.74618	D	0.352776	0.90426	D	0.929975807666779	0.59438	D	0.845015	0.52334	T	0.9668615	0.97962	0.93544495	0.97465	0.9668615	0.97962	0.93544495	0.97466	-10.401	0.76276	D	.	.	0.620	0.69698	P	.;.	.;.	5.207384	0.87374	29.2	0.9981478112973371	0.89797	0.98295	0.81357	D	AEFDGBHCI	0.951954	0.96697	D	0.962467670116143	0.94466	12.781	0.901940695140558	0.95657	13.83521	1.0	0.98316	0.59774	0.34471	0	0.491552	0.07993	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	5.3	5.3	0.74745	9.147000	0.93820	11.824000	0.97325	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	17.717	0.88247	829	0.39537	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	501.27	34	chr7	121329800	.	G	T	501.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.16;DP=234;ExcessHet=0;FS=1.573;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.17;ReadPosRankSum=0.631;SOR=0.376	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,100,1347	5	0	1	1
chr7	122011553	122011553	A	C	exonic	PTPRZ1	.	nonsynonymous SNV	PTPRZ1:NM_001369395:exon12:c.A2507C:p.H836P,PTPRZ1:NM_002851:exon12:c.A2507C:p.H836P,PTPRZ1:NM_001369396:exon13:c.A2465C:p.H822P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.017185879556	.	.	8.237e-06	9.61e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs759142145	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	3.288e-05	3.284e-05	2.571e-05	4.039e-05	0.0001	1.262e-05	7.99e-06	4.743e-05	3.056e-05	0.0001	0	0	0	0	0	0	0	0	0	0.007	0.59928	D	0.179	0.29540	T	0.681	0.41422	P	0.255	0.39216	B	0.002875	0.35804	N	0.246847	1	0.81001	D	2.2	0.62015	M	0.96	0.42888	T	-1.69	0.40274	N	0.331	0.37197	-1.0145	0.25497	T	0.099	0.36983	T	10	0.21593317	0.38160	T	0.017186	0.38787	T	0.112	0.31546	.	.	0.0675242888579	0.06100	0.6154367429873003	0.61475	0.246799882432	0.27215	0.35907971859	0.19251	T	0.172261	0.52068	T	-0.229864	0.16668	T	-0.331291	0.41326	T	0.266950820621968	0.23616	T	0.79582	0.43907	T	0.25157395	0.48166	0.25669396	0.51374	0.25157395	0.48166	0.25669396	0.51373	-1.003	0.01003	T	.	.	0.072	0.04080	B	.	.	2.537406	0.32816	19.16	0.97211094107690443	0.32856	0.93539	0.58493	D	AEFGBI	0.742775	0.68629	D	0.189809733184538	0.50711	3.258459	0.274398083827816	0.54050	3.571147	0.108336519648295	0.16580	0.67177	0.52595	0	0.548873	0.16688	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	5.8	4.62	0.56946	3.945000	0.56346	3.317000	0.37513	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.998000	0.85391	0.8652:0.1348:0.0:0.0	13.029	0.58239	741	0.52966	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	135.44	33	chr7	122011553	.	A	C	135.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.556;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.944;SOR=0.307	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	6	0	1	0
chr7	122013164	122013164	A	T	exonic	PTPRZ1	.	nonsynonymous SNV	PTPRZ1:NM_001369395:exon12:c.A4118T:p.H1373L,PTPRZ1:NM_002851:exon12:c.A4118T:p.H1373L,PTPRZ1:NM_001369396:exon13:c.A4076T:p.H1359L	.	428	1076	18	0	0	18	0.00829493	.	.	.	2335641	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.00615047938991	0.0003	0.000599042	0.0006	9.612e-05	8.637e-05	0	0	0.0007	0	0.0013	0.0005045	78	154602	rs145746316	0.0004	0.0004	0.0003	0.0005	0.0026	0.0004	0.0003	0.0016	0.0013	2.987e-05	0.0002	0	0	5.616e-05	0.0026	0.0003	0.0007	0.0013	0.0003	0.0003	0.0004	0.0002	0.0010	0.0002	0.0002	0.0004	0.0003	0	0	0.0003	0	0	9.413e-05	0.0068	0.0005	0	0.0010	0.301	0.14449	T	0.673	0.06245	T	0.0	0.02946	B	0.0	0.01387	B	0.777422	0.09498	N	0.896611	1	0.19486	N	0.69	0.16971	N	1.06	0.39781	T	-1.19	0.30346	N	0.052	0.02366	-1.0203	0.23616	T	0.047	0.20275	T	10	0.0065009	0.00147	T	0.00615	0.16111	T	0.029	0.06676	.	.	0.0675242888579	0.06100	0.32915003274889704	0.32828	0.125427775553	0.14139	0.245896413922	0.03348	T	0.117039	0.43683	T	-0.507188	0.00521	T	-0.54185	0.18115	T	0.0134316485071541	0.00244	T	0.410559	0.10607	T	0.059687782	0.12161	0.036062274	0.02977	0.059687782	0.12161	0.036062274	0.02977	-2.57	0.06278	T	.	.	0.077	0.06387	B	.	.	0.700256	0.10689	7.385	0.87917767508485956	0.17579	0.09414	0.15175	N	AEFDBIJ	0.058127	0.10882	N	-1.1309987928269	0.06098	0.2798219	-1.08584333932725	0.07978	0.3903161	0.0408935380785449	0.14460	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	5.62	-1.66	0.07824	0.646000	0.24486	1.779000	0.28700	-0.040000	0.17491	0.073000	0.22155	0.054000	0.21897	0.920000	0.45560	0.4411:0.2256:0.1275:0.2058	1.113	0.01603	741	0.52966	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.003788	0.07143	1110.46	70	chr7	122013164	.	A	T	1110.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.099;DP=247;ExcessHet=0;FS=8.231;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.86;ReadPosRankSum=-0.594;SOR=1.342	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	6	0	1	0
chr7	123119167	123119167	T	C	exonic	SLC13A1	.	nonsynonymous SNV	SLC13A1:NM_022444:exon13:c.A1426G:p.I476V,SLC13A1:NM_001324400:exon16:c.A1054G:p.I352V	.	436	1085	1	0	0	1	0.000460617	.	.	.	3328712	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.0114801588019	.	.	1.66e-05	0	8.834e-05	0	0	1.507e-05	0	0	1.29e-05	2	154602	rs758207818	1.027e-05	1.026e-05	6.813e-06	1.376e-05	0.0002	6.17e-06	4.89e-06	7.43e-06	2.78e-06	2.991e-05	4.481e-05	0	0	0	0.0002	8.1e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.112	0.37037	T	0.068	0.23728	B	0.165	0.35019	B	0.000128	0.49741	N	0.204733	0.999278	0.81001	D	1.57	0.39626	L	3.74	0.03951	T	-0.79	0.21860	N	0.217	0.24260	-0.9260	0.44716	T	0.013	0.05081	T	10	0.101495326	0.18548	T	0.01148	0.29147	T	0.071	0.20720	0.483	0.56462	0.234412748748	0.23057	0.4324186070582115	0.43158	0.0929261521054	0.10492	0.426885008812	0.28783	T	0.066423	0.32942	T	-0.318415	0.07028	T	-0.513629	0.20942	T	0.0515987500548363	0.05779	T	0.682432	0.29103	T	0.09047606	0.21172	0.12016766	0.29003	0.09047606	0.21172	0.12016766	0.29002	-4.939	0.36171	T	.	.	0.098	0.16187	B	.	.	1.050343	0.14316	10.89	0.98793714914212727	0.46333	0.54257	0.29571	D	AEFI	0.455285	0.50763	N	-0.53409238560534	0.20985	1.110359	-0.433830019905735	0.24010	1.312507	0.0785329138421307	0.15791	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.633917	0.49826	0	.	.	5.53	3.11	0.34883	0.164000	0.16359	0.479000	0.18787	0.609000	0.47794	0.112000	0.23030	0.998000	0.33993	0.976000	0.56436	0.0:0.0735:0.1415:0.7851	7.649	0.27505	564	0.70960	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	654.27	33	chr7	123119167	.	T	C	654.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.111;DP=220;ExcessHet=0;FS=1.19;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-0.45;SOR=0.976	GT:AD:DP:GQ:PL	0/1:16,30:46:99:664,0,355	5	0	1	1
chr7	123616399	123616399	A	G	exonic	ASB15	.	nonsynonymous SNV	ASB15:NM_080928:exon4:c.A196G:p.K66E,ASB15:NM_001290258:exon6:c.A196G:p.K66E	.	430	1081	11	0	0	11	0.00506213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0084754779281	0.0011	0.000798722	0.0016	0.0004	0.0019	0	0	0.0017	0.0033	0.0027	0.0015006	232	154602	rs146389595	0.0012	0.0012	0.0011	0.0013	0.0139	0.0011	0.0011	0.0114	0.0105	0.0008	0.0015	0.0121	0	1.873e-05	0.0139	0.0007	0.0026	0.0030	0.0009	0.0009	0.0009	0.0009	0.0033	0.0008	0.0007	0.0021	0.0017	0.0002	0	0.0008	0.0118	0	0	0.0272	0.0007	0.0019	0.0033	0.892	0.30656	T	0.96	0.92824	T	0.332	0.33274	B	0.186	0.36104	B	0.000001	0.84330	D	0.000000	0.991962	0.41520	D	1.955	0.52871	M	2.45	0.52416	T	-0.72	0.30555	N	0.422	0.46928	-0.9451	0.41797	T	0.137	0.45260	T	10	0.008272409	0.00188	T	0.008475	0.22407	T	0.159	0.41286	.	.	0.623888465017	0.62083	0.33115366317917055	0.33028	0.195611412408	0.21904	0.442374646664	0.30901	T	0.00741	0.06818	T	-0.287075	0.09932	T	-0.188818	0.55701	T	0.0427459386873625	0.04190	T	0.79572	0.43862	T	0.21618117	0.44070	0.29316846	0.55345	0.21618117	0.44069	0.29316846	0.55344	-4.073	0.24891	T	.	.	0.18	0.54368	B	.;.;.;.;.;.	.;.;.;.;.;.	2.810219	0.36988	20.4	0.9963365777917903	0.76203	0.98045	0.79135	D	AEDIJ	0.838380	0.75590	D	0.240152028362037	0.53154	3.485585	0.385193605664805	0.60650	4.255098	0.99973891051268	0.42341	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	4.182000	0.58107	7.922000	0.74576	0.756000	0.94297	0.992000	0.37556	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	15.682	0.77130	690	0.58899	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011604	0.000000	0.016304	0.011696	0.000000	0.043103	0.006173	0.003788	0.07143	944.63	75	chr7	123616399	.	A	G	944.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.17;DP=282;ExcessHet=0;FS=0.868;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=1.29;SOR=0.753	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,99,1485	6	0	1	0
chr7	127598439	127598439	G	C	exonic	FSCN3	.	nonsynonymous SNV	FSCN3:NM_020369:exon4:c.G965C:p.R322P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00956896749899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.841e-07	1.362e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.23183	T	0.225	0.25514	T	0.0	0.02946	B	0.002	0.06944	B	0.627930	0.10715	N	0.812162	0.999999	0.08975	N	0.995	0.25082	L	1.57	0.29342	T	0.35	0.03761	N	0.355	0.39659	-1.0109	0.26635	T	0.073	0.29707	T	10	0.10089743	0.18403	T	0.009569	0.25039	T	0.063	0.18251	0.623	0.75803	0.107399877778	0.10242	0.5200535731799519	0.51928	0.10754944395	0.12137	0.282988041639	0.07912	T	3.33E-4	0.00092	T	-0.211192	0.19211	T	-0.541139	0.18185	T	0.054539972017116	0.06281	T	0.471053	0.13966	T	0.13278043	0.30907	0.1916053	0.42628	0.13278043	0.30906	0.1916053	0.42627	-2.566	0.06249	T	.	.	0.120	0.24800	B	.	.	1.605246	0.20515	14.79	0.90543364015383987	0.19799	0.08211	0.14169	N	AEFDGBHCI	0.125967	0.24270	N	-0.977793594818303	0.09080	0.4282402	-1.04065390003293	0.08902	0.4400753	0.999999998816022	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.440796	0.06475	0	0.584449	0.35598	0	.	.	5.84	-4.32	0.03433	-0.120000	0.10633	0.158000	0.15372	-0.106000	0.15538	0.026000	0.20160	0.032000	0.21310	0.273000	0.23843	0.4114:0.2255:0.3631:0.0	6.762	0.22735	0	0.99858	Fascin domain|Fascin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	958.53	33	chr7	127598439	.	G	C	958.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.535;DP=271;ExcessHet=0;FS=0.784;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=-0.759;SOR=0.841	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1099	6	0	1	0
chr7	127611947	127611947	G	A	exonic	PAX4	.	stopgain	PAX4:NM_001366111:exon8:c.C769T:p.Q257X,PAX4:NM_001366110:exon10:c.C769T:p.Q257X	Diabetes mellitus, type 2, Autosomal dominant;Maturity-onset diabetes of the young, type IX	.	.	.	.	.	.	.	0.9998	0.982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.562921	0.05435	U	1.446390	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.803	0.92200	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595077	0.97509	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.;.;.;.	High;.;.;.;.;.	10.129645	0.99587	45	0.99769616183590459	0.85750	0.90919	0.52510	D	AEFBI	0.708662	0.66300	D	0.918736277943961	0.92647	11.54504	0.776814023953049	0.88141	9.471509	0.999397892903159	0.39470	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.27	5.27	0.73797	4.392000	0.59421	9.580000	0.81027	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.0:0.0:1.0:0.0	14.741	0.69068	0	0.99858	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	470.83	20	chr7	127611947	.	G	A	470.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.583;DP=206;ExcessHet=0;FS=1.328;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=-1.028;SOR=0.475	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	6	0	1	0
chr7	128476784	128476784	G	A	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon1:c.G19A:p.E7K	.	428	1080	14	0	0	14	0.00643974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0116461621903	7.7e-05	0.000599042	0.0003	0	0	0	0	0.0002	0.0012	0.0017	0.0002846	44	154602	rs199977243	0.0002	0.0002	0.0001	0.0002	0.0019	0.0001	0.0001	0.0011	0.0011	0	0.0002	0.0003	0	0	0.0019	7.014e-05	0.0002	0.0013	0.0002	0.0002	0.0001	0.0002	0.0023	0.0001	9.233e-05	0.0013	0.0010	4.811e-05	0	0	0	0.0002	0	0	0.0001	0	0.0023	0.16	0.23721	T	0.114	0.36765	T	0.004	0.12183	B	0.004	0.10090	B	0.024380	0.26274	N	0.407038	1	0.81001	D	1.87	0.49600	L	2.66	0.12575	T	-1.01	0.26639	N	0.373	0.41459	-1.0829	0.06795	T	0.029	0.12234	T	10	0.0066468716	0.00151	T	0.011646	0.29486	T	0.078	0.22779	.	.	0.136095386433	0.13204	0.15073968495123113	0.14995	0.213294650042	0.23841	0.588954508305	0.51346	T	0.009712	0.08820	T	-0.4793	0.00746	T	-0.485885	0.23824	T	0.0298386215000712	0.01965	T	0.721828	0.33531	T	0.09390128	0.22065	0.07543262	0.16604	0.09390128	0.22065	0.07543262	0.16604	-4.831	0.34951	T	.	.	0.116	0.23290	B	.	.	2.840325	0.37468	20.5	0.98725404892250723	0.45274	0.24507	0.22415	N	ALL	0.136985	0.25782	N	-0.881089939201643	0.11293	0.5442088	-0.940718694691746	0.11139	0.5656507	1.0	0.98316	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.273489	0.05413	2	.	.	2.64	2.64	0.30504	1.470000	0.34963	7.931000	0.75020	0.308000	0.19071	0.009000	0.18154	1.000000	0.68203	0.169000	0.20946	0.0:0.0:1.0:0.0	8.888	0.34573	351	0.85421	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.011364	0.07143	723.63	34	chr7	128476784	.	G	A	723.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.495;DP=260;ExcessHet=0;FS=4.38;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=0.243;SOR=0.596	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	6	0	1	0
chr7	128479325	128479325	T	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.T370C:p.C124R	.	438	1023	61	0	0	61	0.0289511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0174515873499	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs2896399	6.91e-07	0.0003	0	1.392e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	7.762e-05	0.0047	6.85e-05	8.73e-05	0.0002	4.257e-05	3.336e-05	3.499e-05	2.115e-05	0.0001	0	0	0.0003	0	0.0001	0	6.298e-05	0	0.0002	0.543	0.07211	T	0.446	0.14075	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	0.999999	0.08975	N	0	0.06538	N	-1.5	0.81318	D	-0.09	0.08340	N	0.091	0.06990	-0.9107	0.46768	T	0.159	0.49245	T	10	0.040916353	0.02701	T	0.017452	0.39153	T	0.150	0.39571	.	.	0.281780670237	0.27795	0.3364087587855413	0.33553	1.77259410334	0.91302	0.311764478683	0.12173	T	0.009243	0.08422	T	-0.023595	0.48339	T	-0.271669	0.47650	T	0.0109154101652592	0.00156	T	0.0324967	0.00210	T	0.16811484	0.37249	0.10462155	0.25132	0.16811484	0.37249	0.10462155	0.25131	-3.247	0.14219	T	.	.	0.058	0.01645	B	.;.	.;.	-0.248706	0.02851	0.401	0.19786044545260884	0.00683	0.00784	0.03216	N	AEFDGBI	0.026016	0.01879	N	-1.68615344627752	0.00892	0.03860894	-1.71130139537614	0.01088	0.04887346	0.983306935734051	0.30538	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.65	-3.33	0.04649	-0.038000	0.12096	-0.198000	0.10972	-1.804000	0.00620	0.000000	0.06391	0.000000	0.08366	0.326000	0.25110	0.1971:0.2519:0.0:0.5509	3.406	0.06915	340	0.86005	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018630	0.060606	0.006793	0.008772	0.000000	0.017241	0.033537	0.007576	0.2	748.55	155	chr7	128479325	.	T	C	748.55	.	AC=2;AF=0.2;AN=10;BaseQRankSum=2.83;DP=1025;ExcessHet=0.3476;FS=35.645;MLEAC=2;MLEAF=0.2;MQ=57.57;MQRankSum=-12.81;QD=1.79;ReadPosRankSum=-2.486;SOR=4.251	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:207,23:230:99:0|1:128479325_T_C:343,0,8573:128479325	3	0	2	2
chr7	128479326	128479326	G	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.G371C:p.C124S	.	439	1022	61	0	0	61	0.0289786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0178834836329	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs1053120	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0047	0.0001	0.0001	0.0002	8.172e-05	6.772e-05	5.008e-05	3.232e-05	0.0001	0	7.124e-05	0.0003	0	0.0004	0	9.519e-05	0	0.0002	0.758	0.03719	T	0.539	0.11004	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	1	0.08975	N	-1.245	0.00777	N	-1.44	0.80815	T	0.31	0.04022	N	0.028	0.00618	-0.8819	0.49609	T	0.184	0.53346	T	10	0.027546227	0.00899	T	0.017883	0.39748	T	0.035	0.08770	0.413	0.45052	0.143124449307	0.13826	0.18685623340228857	0.18603	1.30509170409	0.83107	0.288228809834	0.08665	T	0.005735	0.05178	T	-0.0687896	0.41519	T	-0.336588	0.40731	T	0.0201303625068684	0.00714	T	0.0364963	0.00253	T	0.06934343	0.15184	0.05611007	0.09968	0.06934343	0.15184	0.05611007	0.09967	-1.643	0.02320	T	.	.	0.063	0.01622	B	.;.	.;.	-0.660452	0.01415	0.083	0.18282609098011249	0.00568	0.00146	0.00887	N	AEFDGBI	0.017860	0.00498	N	-1.54153135271646	0.01584	0.06923818	-1.55325254833429	0.01954	0.08918713	0.918060544389619	0.26560	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.57	-0.54	0.11268	-0.000000	0.12910	-3.007000	0.03146	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.356000	0.25796	0.2318:0.3902:0.2301:0.1479	1.070	0.01518	340	0.86005	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021652	0.075758	0.008152	0.014620	0.000000	0.017241	0.033537	0.011364	0.2	749.09	155	chr7	128479326	.	G	C	749.09	.	AC=2;AF=0.2;AN=10;BaseQRankSum=3.05;DP=1032;ExcessHet=0.3476;FS=35.645;MLEAC=2;MLEAF=0.2;MQ=57.48;MQRankSum=-12.81;QD=1.79;ReadPosRankSum=-2.527;SOR=4.251	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:207,23:230:99:0|1:128479325_T_C:343,0,8573:128479325	3	0	2	2
chr7	128677613	128677613	C	T	exonic	FAM71F2	.	nonsynonymous SNV	FAM71F2:NM_001012454:exon3:c.C415T:p.R139C,FAM71F2:NM_001128926:exon3:c.C388T:p.R130C,FAM71F2:NM_001290254:exon4:c.C130T:p.R44C,FAM71F2:NM_001290255:exon4:c.C130T:p.R44C	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.0131750253338	.	.	8.492e-06	0	0	0	0	1.528e-05	0	0	6.5e-06	1	154602	rs776255301	2.121e-05	2.121e-05	1.77e-05	2.476e-05	2.789e-05	1.52e-05	1.325e-05	1.998e-05	1.741e-05	0	0	0	0	0	0	2.789e-05	0	0	3.948e-05	3.941e-05	2.572e-05	5.39e-05	0.0002	1.717e-05	1.131e-05	5.3e-05	2.839e-05	2.417e-05	0	0.0002	0	0	0	0	2.941e-05	0	0	0.027	0.46513	D	0.057	0.46406	T	1.0	0.90584	D	0.997	0.86255	D	0.000131	0.49741	D	0.000000	0.999563	0.81001	D	1.765	0.45800	L	2.26	0.17596	T	-4.89	0.81431	D	.	.	-1.1211	0.02263	T	0.101	0.37341	T	10	0.7691324	0.76940	D	0.013175	0.32362	T	0.174	0.44019	0.663	0.80098	.	.	0.4271844571952595	0.42635	.	.	0.541887521744	0.44712	T	0.030255	0.21488	T	-0.092905	0.37595	T	-0.240777	0.50722	T	0.931129097938538	0.59628	D	0.808019	0.45805	T	0.32494798	0.55054	0.27413633	0.53339	0.32494798	0.55054	0.27413633	0.53338	-5.375	0.43889	T	.	.	0.222	0.52252	B	.;.	.;.	3.919253	0.57202	23.8	0.99930501643453118	0.99334	0.68986	0.34011	D	AEFBI	0.292778	0.40357	N	0.533433305099913	0.69081	5.306454	0.502971520335974	0.68190	5.185974	0.999851377301651	0.44174	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.6	5.6	0.84997	1.710000	0.37539	3.268000	0.37139	-0.173000	0.11020	0.927000	0.32177	0.998000	0.33993	0.161000	0.20682	0.0:1.0:0.0:0.0	15.110	0.72017	428	0.80967	Domain of unknown function DUF3699;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1272.83	40	chr7	128677613	.	C	T	1272.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.521;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19;ReadPosRankSum=0.427;SOR=0.77	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,33:67:99:0|1:128677604_C_T:1283,0,1324:128677604	6	0	1	0
chr7	128767656	128767656	-	TAAGT	splicing	CALU	NM_001130674:exon6:c.843+1->TAAGT;NM_001219:exon6:c.843+1->TAAGT;NM_001199672:exon7:c.867+1->TAAGT;NM_001199671:exon7:c.867+1->TAAGT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.106e-06	4.104e-06	5.448e-06	2.751e-06	3.599e-06	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.599e-06	3.313e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1009.79	44	chr7	128767656	.	G	GTAAGT	1009.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.05;DP=230;ExcessHet=0;FS=7.182;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=22.95;ReadPosRankSum=-0.394;SOR=1.949	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1214	6	0	1	0
chr7	128815780	128815780	A	T	exonic	CCDC136	.	nonsynonymous SNV	CCDC136:NM_022742:exon16:c.A3212T:p.E1071V,CCDC136:NM_001367764:exon17:c.A3362T:p.E1121V	.	399	1117	6	0	0	6	0.00267857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	0.0057	0.000798722	0.0112	0.0014	0.0079	0	0.0106	0.0177	0	0.0032	0.0051164	791	154602	rs189812175	0.0072	0.0072	0.0073	0.0071	0.0084	0.0071	0.0071	0.0082	0.0082	0.0009	0.0019	0.0077	0	0.0053	0.0066	0.0084	0.0066	0.0024	0.0050	0.0050	0.0055	0.0045	0.0086	0.0047	0.0046	0.0081	0.0078	0.0013	0	0.0024	0.0081	0	0.0038	0.0034	0.0086	0.0047	0.0015	0.003	0.68238	D	0.011	0.64786	D	0.95	0.53885	P	0.648	0.52381	P	0.058715	0.22381	N	0.373916	1	0.18612	N	1.385	0.34509	L	1.23	0.36872	T	-1.19	0.30346	N	0.251	0.28381	-1.0064	0.28034	T	0.102	0.37644	T	10	0.004013747	0.00078	T	.	.	.	0.063	0.18251	.	.	0.350088858571	0.34617	0.2660081045842865	0.26513	0.106303491595	0.12020	0.269780755043	0.06113	T	0.030687	0.21692	T	-0.535231	0.00358	T	-0.535625	0.18728	T	0.0106071016090234	0.00148	T	0.464953	0.13579	T	0.10979737	0.25958	0.053690325	0.09093	0.10979737	0.25957	0.053690325	0.09093	-4.872	0.35419	T	.	.	0.104	0.19032	B	.	.	1.686454	0.21489	15.22	0.98835225411423056	0.47018	0.22014	0.21602	N	AEFDBHCI	0.055115	0.10079	N	-0.341360720557316	0.27591	1.51501	-0.462041797336302	0.23208	1.264442	0.999785897404323	0.43007	0.634777	0.41761	0	0.610034	0.51514	0	0.643519	0.47002	0	0.616125	0.45549	0	.	.	4.79	3.61	0.40494	0.226000	0.17557	0.860000	0.22220	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.8968:0.0:0.1032:0.0	7.544	0.26921	679	0.60090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006743	0.000000	0.006812	0.014085	0.000000	0.000000	0.006098	0.000000	0.07143	1427.44	39	chr7	128815780	.	A	T	1427.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.427;DP=411;ExcessHet=0;FS=0.695;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=0.583;SOR=0.602	GT:AD:DP:GQ:PL	0/0:119,0:119:99:0,120,1800	6	0	1	0
chr7	128844114	128844114	A	G	exonic	FLNC	.	nonsynonymous SNV	FLNC:NM_001127487:exon20:c.A3040G:p.K1014E,FLNC:NM_001458:exon20:c.A3040G:p.K1014E	Cardiomyopathy, familial hypertrophic;Cardiomyopathy, familial restrictive 5, Autosomal dominant;Myopathy, distal, 4, Autosomal dominant;Myopathy, myofibrillar, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595	0.115159895014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.22573	T	0.234	0.24840	T	0.367	0.77913	B	0.309	0.80445	B	0.000000	0.84330	D	0.000000	0.995723	0.42826	D	1.24	0.30952	L	-1.73	0.83327	D	-2.51	0.54546	D	0.503	0.57177	0.173	0.85444	D	0.588	0.85228	D	10	0.46467856	0.59497	T	0.11516	0.79424	D	0.595	0.83911	0.507	0.60232	0.754872398143	0.75265	0.5534318202831529	0.55269	0.863917638796	0.69099	0.797607183456	0.81598	T	0.49746	0.81932	T	0.0750836	0.61460	D	-0.129924	0.60978	T	0.863913416862488	0.51413	D	0.951205	0.81406	D	0.39755908	0.60563	0.32974964	0.58850	0.39755908	0.60563	0.32974964	0.58850	-8.888	0.67264	D	0.12767372463162138	0.13109	0.295	0.52574	B	.;.	.;.	4.158666	0.62440	24.5	0.99774651927863256	0.86174	0.87616	0.47214	D	AEFDBCI	0.511375	0.54003	D	0.257516645814124	0.54012	3.567896	0.307706994432456	0.55992	3.762076	0.999999429044971	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	5.05	5.05	0.67566	2.914000	0.48495	9.413000	0.80714	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.8414:0.1586:0.0:0.0	11.688	0.50760	601	0.67921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1159.49	35	chr7	128844114	.	A	G	1159.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.578;DP=312;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.66;ReadPosRankSum=-0.261;SOR=0.748	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,100,1181	6	0	1	0
chr7	128877715	128877715	G	A	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon39:c.C4387T:p.R1463C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.256e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs748855812	3.146e-05	3.01e-05	2.821e-05	3.479e-05	0.0002	2.384e-05	2.124e-05	2.53e-05	2.209e-05	3.165e-05	5.602e-05	0	0	0	0.0002	3.429e-05	5.173e-05	0	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.31925	.	.	.	.	.	.	.	0.19633302	0.35520	T	.	.	.	.	.	.	.	0.317084106153	0.31322	0.4631062419059024	0.46229	.	.	0.502265095711	0.39144	T	0.029955	0.21344	T	0.0707067	0.60936	D	-0.0309255	0.68308	D	.	.	.	0.915608	0.69895	D	0.22327992	0.44945	0.22238533	0.47081	0.22327992	0.44945	0.22238533	0.47080	-12.602	0.87659	D	.	.	0.468	0.63076	A	.;.;.	.;.;.	4.644930	0.73984	26.1	0.79751537874615197	0.12884	0.92268	0.55322	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999741417105405	0.42466	0.185449	0.04010	2	0.356841	0.05899	0	0.129117	0.03641	0	0.058706	0.01089	0	0.438292	0.38361	5.67	3.75	0.42236	1.061000	0.30152	7.457000	0.59017	0.672000	0.70159	0.866000	0.30720	1.000000	0.68203	0.659000	0.32940	0.0829:0.0:0.7614:0.1558	8.279	0.31047	571	0.70397	von Willebrand factor, type D domain;von Willebrand factor, type D domain;von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	55.44	33	chr7	128877715	.	G	A	55.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.431;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.24;ReadPosRankSum=-1.834;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr7	128879729	128879729	C	T	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon36:c.G4033A:p.G1345R	.	422	1096	4	0	0	4	0.00182149	.	.	.	3976357	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	5.451e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs752411105	4.221e-05	4.173e-05	2.4e-05	6.092e-05	0.0003	3.324e-05	3.043e-05	0.0002	0.0002	0	5.602e-05	0	0	0.0001	0	2.132e-05	5.173e-05	0.0003	2.626e-05	2.625e-05	0	5.371e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	.	.	.	0.449	0.13328	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.04274696	0.03053	T	.	.	.	.	.	.	.	0.286081765059	0.28222	0.5474555356019387	0.54671	.	.	0.359290242195	0.19282	T	0.007916	0.07293	T	-0.298932	0.08761	T	-0.377029	0.36068	T	.	.	.	0.693131	0.32570	T	0.05226004	0.09722	0.1342739	0.32178	0.05226004	0.09721	0.1342739	0.32177	-0.16	0.00411	T	.	.	0.067	0.03026	B	.;.;.	.;.;.	-0.957393	0.00834	0.028	0.78151884293315343	0.12177	0.05502	0.11389	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999930585768	0.74766	0.162113	0.03585	0	0.18701	0.04157	0	0.108573	0.03145	0	0.058706	0.01089	0	0.10992	0.23557	5.1	-7.17	0.01359	-1.140000	0.03321	-4.662000	0.02045	-1.092000	0.01532	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0915:0.2471:0.091:0.5703	5.379	0.15483	566	0.70798	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	2574.44	34	chr7	128879729	.	C	T	2574.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.37;DP=411;ExcessHet=0;FS=0.487;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.249;SOR=0.753	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1128	6	0	1	0
chr7	128893261	128893261	G	A	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon13:c.C1244T:p.A415V,KCP:NM_199349:exon13:c.C1244T:p.A415V	.	425	1077	19	1	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0157748	0.0218	0.0005	0.0101	0.0017	0	0.0011	0.0213	0.0503	0.0035834	554	154602	rs199677638	0.0040	0.0039	0.0027	0.0053	0.0518	0.0039	0.0039	0.0505	0.0500	0.0003	0.0008	0	0.0001	2.036e-05	0.0018	0.0011	0.0046	0.0518	0.0023	0.0023	0.0016	0.0031	0.0509	0.0021	0.0020	0.0456	0.0436	0.0003	0	0.0016	0	0	0	0	0.0010	0.0014	0.0509	.	.	.	0.329	0.18789	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.09349	.	.	.	.	.	.	.	0.0024197698	0.00036	T	.	.	.	.	.	.	.	.	.	0.10850653874881283	0.10779	.	.	0.308590769768	0.11694	T	0.002273	0.04800	T	-0.423063	0.01636	T	-0.343233	0.39978	T	.	.	.	0.548745	0.20183	T	0.027362043	0.01916	0.1073498	0.25841	0.027362043	0.01916	0.1073498	0.25841	-6.026	0.46497	T	.	.	0.086	0.11366	B	.;.;.	.;.;.	0.432349	0.08027	4.746	0.58662788602678073	0.06044	0.05280	0.11122	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999970831139	0.74766	0.158359	0.03455	1	0.096583	0.02683	0	0.175771	0.04330	1	0.058706	0.01089	0	0.106538	0.23126	4.21	-2.36	0.06282	-0.314000	0.08132	-0.235000	0.10642	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.1189:0.2438:0.4254:0.2118	2.219	0.03725	542	0.72843	VWFC domain|VWFC domain;VWFC domain|VWFC domain;VWFC domain|VWFC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.003597	0.000000	0.000000	0.004132	0.035211	0.07143	586.53	44	chr7	128893261	.	G	A	586.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.82;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=0.106;SOR=0.883	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1349	6	0	1	0
chr7	128910664	128910664	C	T	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon1:c.G13A:p.G5R,KCP:NM_199349:exon1:c.G13A:p.G5R	.	.	.	.	.	.	.	.	.	.	.	3265096	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0.0011	0	0	2.59e-05	4	154602	rs754016009	0.0001	0.0001	0.0001	0.0001	6.131e-05	9.114e-05	8.55e-05	4.807e-05	4.374e-05	3.586e-05	6.131e-05	0.0025	0	0	0	5.999e-05	0.0002	3.944e-05	5.254e-05	5.253e-05	8.99e-05	1.344e-05	7.349e-05	2.556e-05	1.829e-05	2.846e-05	1.858e-05	0	0	0	0.0009	0	0	0	7.349e-05	0	0	.	.	.	0.537	0.10173	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.01999	.	.	.	.	.	.	.	0.010753423	0.00238	T	.	.	.	.	.	.	.	0.181679512989	0.17746	0.1620082057187636	0.16121	.	.	0.525621116161	0.42418	T	0.005282	0.05119	T	-0.412597	0.01910	T	-0.498379	0.22515	T	.	.	.	0.40286	0.10299	T	0.058408823	0.11747	0.113918535	0.27496	0.058408823	0.11747	0.113918535	0.27495	-3.258	0.13201	T	.	.	0.172	0.39288	B	.;.;.	.;.;.	-0.555962	0.01696	0.123	0.91725594985467396	0.21022	0.01207	0.04296	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.983932351495446	0.30637	0.11394	0.02926	0	0.097471	0.02872	0	0.125351	0.03401	0	0.109499	0.03221	0	0.100235	0.22237	3.32	-2.28	0.06438	-4.813000	0.00212	-5.675000	0.01634	-0.315000	0.05944	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.2312:0.5505:0.2183	6.557	0.21662	510	0.75209	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001179	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011111	0.08333	369.27	33	chr7	128910664	.	C	T	369.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.37;DP=178;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=2.03;SOR=0.673	GT:AD:DP:GQ:PL	0/0:32,0:32:66:0,66,841	5	0	1	1
chr7	129164525	129164525	G	C	exonic	TSPAN33	.	nonsynonymous SNV	TSPAN33:NM_178562:exon5:c.G415C:p.D139H	.	424	1089	8	1	0	10	0.00457038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.778	0.0308378546423	.	0.000399361	0.0004	0	8.637e-05	0	0.0002	0.0002	0.0011	0.0019	0.0003493	54	154602	rs150641480	0.0003	0.0003	0.0002	0.0004	0.0021	0.0002	0.0002	0.0019	0.0018	0	2.236e-05	0	0	3.748e-05	0.0003	0.0002	0.0002	0.0021	0.0002	0.0002	0.0002	0.0002	0.0027	0.0001	0.0001	0.0016	0.0013	0	0	0	0	0	0	0	0.0002	0	0.0027	.	.	.	0.003	0.76473	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.048033	1	0.81001	D	3.12	0.87914	M	.	.	.	.	.	.	0.878	0.87590	0.791	0.94294	D	0.818	0.93858	D	10	0.30660558	0.48169	T	0.030838	0.53060	D	.	.	.	.	0.158396225186	0.15383	0.8356725455120984	0.83527	.	.	0.784248232841	0.79569	T	0.69279	0.91083	D	-0.0781614	0.40014	T	0.108783	0.77491	D	0.320822397349022	0.25855	T	0.973003	0.90263	D	0.90156704	0.91524	0.8432951	0.91057	0.90156704	0.91525	0.8432951	0.91057	-11.433	0.81979	D	.	.	0.904	0.83029	P	.	.	5.173527	0.86723	29.0	0.99674257530905008	0.78782	0.98135	0.79898	D	AEFBCI	0.908842	0.86467	D	0.985730844452259	0.95289	13.48022	0.950312720604297	0.97414	16.08797	0.999999999876263	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.779548	0.98927	0	0.620976	0.48614	0	.	.	5.75	5.75	0.90390	9.148000	0.93824	9.865000	0.82085	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.936000	0.47498	0.0:0.0:1.0:0.0	17.446	0.87471	730	0.54327	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1926.44	36	chr7	129164525	.	G	C	1926.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.701;DP=357;ExcessHet=0;FS=0.645;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=2.82;SOR=0.593	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	6	0	1	0
chr7	129205670	129205670	G	A	exonic	SMO	.	nonsynonymous SNV	SMO:NM_005631:exon4:c.G808A:p.V270I	Basal cell carcinoma, somatic;Curry-Jones syndrome, somatic mosaic	422	1089	11	0	0	11	0.00502513	.	.	.	139008	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.368	.	0.0086	0.00239617	0.0074	0.0011	0.0023	0	0.0056	0.0109	0.0033	0.0058	0.0074191	1147	154602	rs111694017	0.0093	0.0093	0.0093	0.0093	0.0106	0.0091	0.0091	0.0104	0.0104	0.0015	0.0025	0.0096	2.519e-05	0.0064	0.0090	0.0106	0.0081	0.0055	0.0073	0.0073	0.0080	0.0067	0.0117	0.0070	0.0068	0.0110	0.0107	0.0018	0.0669	0.0034	0.0107	0	0.0057	0.0102	0.0117	0.0043	0.0056	1.0	0.00964	T	0.632	0.07150	T	0.047	0.21998	B	0.006	0.12133	B	0.000008	0.62929	D	0.111433	0.999946	0.51968	D	-0.385	0.03041	N	-1.53	0.81559	D	0.26	0.04380	N	0.211	0.23506	-0.7917	0.55630	T	0.156	0.48772	T	10	0.012343407	0.00266	T	.	.	.	0.368	0.68757	.	.	0.7379173449	0.73557	0.2942428290023384	0.29337	0.50681636426	0.48873	0.676300823689	0.63739	T	0.362373	0.72829	T	-0.474194	0.00801	T	-0.442892	0.28485	T	0.0159573050272741	0.00378	T	0.833117	0.50161	T	0.114749916	0.27086	0.060912553	0.11678	0.114749916	0.27085	0.060912553	0.11677	-2.548	0.06118	T	.	.	0.085	0.10111	B	.	.	3.276368	0.44867	22.0	0.86085403290971718	0.16304	0.90625	0.51957	D	AEFDBI	0.259709	0.37800	N	-0.31535562114274	0.28564	1.576571	-0.0367968268644263	0.38066	2.237538	0.787360263019864	0.23954	0.719381	0.83141	0	0.709663	0.81188	0	0.723133	0.82415	0	0.655142	0.61905	0	.	.	5.57	5.57	0.84021	4.676000	0.61317	11.754000	0.95474	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0758:0.0:0.9242:0.0	13.807	0.62732	714	0.56256	Frizzled/Smoothened, transmembrane domain|Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain|Smoothened, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.000000	0.010870	0.020468	0.000000	0.017241	0.006098	0.007576	0.07143	2384.44	33	chr7	129205670	.	G	A	2384.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.667;DP=397;ExcessHet=0;FS=2.443;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-0.201;SOR=0.687	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1434	6	0	1	0
chr7	129451613	129451613	T	C	exonic	STRIP2	.	nonsynonymous SNV	STRIP2:NM_001134336:exon4:c.T275C:p.V92A,STRIP2:NM_020704:exon4:c.T275C:p.V92A	.	430	1084	7	1	0	9	0.00413413	0.0002	0.012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.015892376828	.	0.000399361	0.0006	0.0002	8.639e-05	0	0	0	0	0.0043	0.0004916	76	154602	rs570968068	0.0002	0.0002	0.0001	0.0004	0.0040	0.0002	0.0002	0.0037	0.0036	2.987e-05	0	0	0	0	0.0002	0	0.0002	0.0040	0.0001	0.0001	6.427e-05	0.0002	0.0035	7.574e-05	6.279e-05	0.0022	0.0018	2.407e-05	0	0	0	0	0	0	0	0	0.0035	0.518	0.07307	T	0.614	0.07592	T	0.001	0.14184	B	0.002	0.16460	B	0.012451	0.29170	N	0.316635	0.994143	0.42177	D	1.63	0.41750	L	0.94	0.43672	T	-0.45	0.14782	N	0.235	0.26475	-1.0655	0.10432	T	0.088	0.34105	T	9	0.005226195	0.00114	T	0.015892	0.36869	T	0.079	0.23065	.	.	0.225215365344	0.22153	0.18236902444862638	0.18155	0.277347193824	0.30209	0.478532910347	0.35855	T	0.008538	0.07834	T	-0.45088	0.01116	T	-0.420715	0.30994	T	0.0173584750814703	0.00475	T	0.615438	0.23533	T	0.04957262	0.08822	0.042647082	0.05128	0.04957262	0.08822	0.042647082	0.05127	-2.616	0.06829	T	.	.	0.134	0.36966	B	.;.	.;.	2.914601	0.38671	20.8	0.89308535858219351	0.18686	0.79548	0.39439	D	AEFBI	0.114472	0.22546	N	-0.219188378457949	0.32347	1.823248	-0.117446591172619	0.34686	1.998083	0.627915658182146	0.21942	0.651	0.46895	0	0.588066	0.40923	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	4.45	3.27	0.36580	2.164000	0.42013	7.833000	0.70197	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0:0.0:0.1773:0.8227	9.579	0.38644	763	0.50172	Far11/STRP, N-terminal|Far11/STRP, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	646.45	69	chr7	129451613	.	T	C	646.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.557;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=0;SOR=0.674	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1180	6	0	1	0
chr7	130051235	130051235	C	T	exonic	ZC3HC1	.	nonsynonymous SNV	ZC3HC1:NM_001282190:exon1:c.G23A:p.R8K	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	0.0041	0.00319489	0.0013	0.0140	0.0005	0	0	6.018e-05	0.0011	0	0.0011772	182	154602	rs113475467	0.0004	0.0004	0.0005	0.0004	0.0143	0.0004	0.0004	0.0132	0.0128	0.0143	0.0005	0	0	0	0.0005	1.532e-05	0.0013	0.0001	0.0040	0.0040	0.0040	0.0040	0.0136	0.0037	0.0036	0.0127	0.0123	0.0136	0	0.0022	0	0	0	0	4.41e-05	0.0033	0	0.0	0.91255	D	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.58	0.29085	T	0.28	0.04233	N	0.124	0.11626	-0.9863	0.33518	T	0.040	0.17106	T	6	0.0036704242	0.00067	T	.	.	.	0.032	0.07718	.	.	0.381409048467	0.37754	.	.	.	.	.	.	.	.	.	.	-0.387935	0.02773	T	-0.317694	0.42827	T	0.077471267119962	0.09660	T	0.29517	0.05454	T	.	.	.	.	.	.	.	.	-3.762	0.20238	T	.	.	0.119	0.24329	B	.	.	0.683006	0.10515	7.228	0.98610574833400499	0.43638	0.01754	0.05521	N	ALL	0.058034	0.10858	N	-0.19313273142002	0.33421	1.896	-0.237736269081461	0.30196	1.698098	0.99999999999995	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.26	-1.46	0.08338	-0.175000	0.09816	-0.735000	0.07644	0.599000	0.40250	0.304000	0.25361	0.007000	0.19602	0.965000	0.52897	0.2408:0.2979:0.2362:0.225	0.538	0.00598	467	0.78285	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	1363.49	35	chr7	130051235	.	C	T	1363.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.65;DP=275;ExcessHet=0;FS=1.592;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=0.709;SOR=0.87	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1072	6	0	1	0
chr7	130322526	130322526	C	A	exonic	CPA4	.	nonsynonymous SNV	CPA4:NM_001163446:exon10:c.C1017A:p.D339E,CPA4:NM_016352:exon11:c.C1116A:p.D372E	.	423	1096	3	0	0	3	0.00136674	.	.	.	2342976	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.00493272029561	0.0005	0.000199681	0.0004	0	0.0003	0	0	0.0006	0.0022	0	0.0003363	52	154602	rs143094036	0.0003	0.0003	0.0003	0.0004	0.0009	0.0003	0.0003	0.0003	0.0002	0	0.0003	0.0042	0	0	0.0009	0.0003	0.0006	8.116e-05	0.0003	0.0003	0.0003	0.0004	0.0004	0.0002	0.0002	0.0003	0.0002	2.407e-05	0	0.0001	0.0043	0	0	0.0034	0.0004	0.0009	0	0.088	0.36113	T	0.124	0.40909	T	0.003	0.11197	B	0.009	0.14300	B	0.001372	0.39242	N	0.279574	0.973283	0.25555	N	0.755	0.19153	N	2.94	0.09728	T	-1.48	0.37375	N	0.065	0.03726	-1.0034	0.28933	T	0.013	0.05033	T	10	0.0049965978	0.00107	T	0.004933	0.12411	T	0.027	0.05988	0.573	0.69695	0.399596177874	0.39575	0.6677513880996173	0.66713	0.112203004936	0.12660	0.366407066584	0.20315	T	0.037444	0.24479	T	-0.57525	0.00206	T	-0.74601	0.03643	T	0.0176041674534016	0.00493	T	0.780122	0.41468	T	0.3325188	0.55676	0.14472413	0.34349	0.3325188	0.55676	0.14472413	0.34348	-6.118	0.47256	T	.	.	0.204	0.48135	B	.;.;.;.	.;.;.;.	0.180609	0.05683	2.130	0.80907707482337954	0.13426	0.09341	0.15117	N	AEFBCI	0.094418	0.19091	N	-1.58521685443178	0.01340	0.05838322	-1.65228951802282	0.01364	0.06160434	0.999892673799355	0.45129	0.648238	0.45900	0	0.573888	0.26702	0	0.624306	0.44879	0	0.542086	0.14980	0	.	.	5.75	-7.35	0.01275	-1.621000	0.02147	-0.818000	0.07307	-0.986000	0.01871	0.000000	0.06391	0.001000	0.17328	0.058000	0.15825	0.1125:0.5065:0.0819:0.2991	6.812	0.22997	613	0.66686	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase A, carboxypeptidase domain;.;Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase A, carboxypeptidase domain;Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase A, carboxypeptidase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.07143	869.44	94	chr7	130322526	.	C	A	869.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.872;DP=367;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=-1.674;SOR=0.75	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,99,1485:.	6	0	1	0
chr7	130383723	130383723	A	G	exonic	CPA1	.	nonsynonymous SNV	CPA1:NM_001868:exon6:c.A625G:p.I209V	.	.	.	.	.	.	.	.	.	.	.	3380148	Hereditary_pancreatitis|not_provided	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.044	0.00839530013719	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs782417364	6.157e-06	6.156e-06	5.445e-06	6.875e-06	0.0002	2.9e-06	2.1e-06	2.62e-06	1.68e-06	0	0	0	0	0	0.0002	6.295e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	0.22486	T	0.213	0.31936	T	0.008	0.14655	B	0.03	0.21741	B	0.000039	0.55875	N	0.191078	0.999952	0.52396	D	1.305	0.32671	L	2.79	0.11189	T	-0.7	0.21215	N	0.121	0.11197	-0.9891	0.32828	T	0.017	0.06855	T	10	0.18849161	0.34407	T	0.008395	0.22206	T	0.044	0.11924	0.67	0.80803	0.146414634003	0.14194	0.5907756020124769	0.59007	0.311717728956	0.33480	0.395566821098	0.24451	T	0.093141	0.39149	T	-0.29053	0.09583	T	-0.639616	0.09697	T	0.049874977901848	0.05478	T	0.685131	0.35599	T	0.1254398	0.29407	0.064121105	0.12806	0.1254398	0.29407	0.064121105	0.12806	-4.416	0.29773	T	0.22478138168265924	0.30360	0.091	0.30238	B	.;.;.;.	.;.;.;.	0.632674	0.10012	6.764	0.79689737115603065	0.12856	0.63169	0.32006	D	AEFDBI	0.412357	0.48246	N	-0.844266798956999	0.12192	0.5927582	-0.844375948606106	0.13422	0.6962196	0.99894752225426	0.38034	0.568482	0.32641	0	0.547309	0.14657	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	5.27	-0.0806	0.13040	0.862000	0.27553	0.094000	0.14556	0.756000	0.94297	0.208000	0.24400	0.000000	0.08366	0.039000	0.14166	0.6046:0.0:0.241:0.1543	4.151	0.09706	696	0.58299	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase A, carboxypeptidase domain;Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A;Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A;Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase A, carboxypeptidase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1631.44	115	chr7	130383723	.	A	G	1631.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.426;DP=423;ExcessHet=0;FS=0.633;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=0.725;SOR=0.626	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1617	6	0	1	0
chr7	130498215	130498215	G	A	exonic	MEST	.	nonsynonymous SNV	MEST:NM_001253900:exon5:c.G374A:p.R125H,MEST:NM_001253901:exon5:c.G389A:p.R130H,MEST:NM_001253902:exon5:c.G389A:p.R130H,MEST:NM_002402:exon5:c.G416A:p.R139H,MEST:NM_177524:exon5:c.G389A:p.R130H,MEST:NM_177525:exon5:c.G389A:p.R130H	.	426	1092	4	0	0	4	0.00182815	.	.	.	3985893	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.162	0.0279656902366	.	.	4.119e-05	0	0	0	0	1.499e-05	0	0.0002	3.23e-05	5	154602	rs782807870	3.215e-05	3.215e-05	2.042e-05	4.4e-05	0.0005	2.478e-05	2.22e-05	0.0001	7.838e-05	0	8.944e-05	0	0	0	0.0005	1.799e-05	9.935e-05	0.0002	3.286e-05	3.284e-05	1.285e-05	5.382e-05	0.0004	1.261e-05	7.98e-06	7.299e-05	3.032e-05	0	0	6.548e-05	0	0	0	0	1.47e-05	0.0005	0.0004	0.028	0.55530	D	0.108	0.37730	T	0.001	0.15093	B	0.001	0.08700	B	0.000038	0.55875	D	0.167577	0.99171	0.41456	D	-0.345	0.03330	N	-0.38	0.69027	T	-0.52	0.28084	N	0.269	0.32037	-0.8657	0.50849	T	0.161	0.49681	T	10	0.15474981	0.29183	T	0.027966	0.50711	D	0.162	0.41843	0.604	0.73586	0.778291592273	0.77625	0.2960231345667204	0.29515	1.09323110914	0.77499	0.395836293697	0.24489	T	0.020244	0.56219	T	-0.209675	0.19424	T	-0.302292	0.44482	T	0.146448872967301	0.16818	T	0.885311	0.61235	D	0.0294908	0.02453	0.037527844	0.03425	0.0294908	0.02453	0.037527844	0.03425	-3.858	0.25113	T	.	.	0.080	0.12560	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	3.752917	0.53807	23.4	0.99459720627371662	0.65736	0.86323	0.45581	D	AEFGBI	0.482793	0.52350	N	-0.0393733026193829	0.40078	2.37407	0.119659660562855	0.45555	2.816616	0.999983313667549	0.51787	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.33	3.14	0.35196	7.231000	0.77575	5.855000	0.50375	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.4088:0.0:0.5912:0.0	4.635	0.11907	900	0.24599	Alpha/beta hydrolase fold-1;.;.;.;Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	921.53	50	chr7	130498215	.	G	A	921.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.514;DP=265;ExcessHet=0;FS=0.921;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=1.2;SOR=0.839	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1064	6	0	1	0
chr7	131504389	131504389	C	G	exonic	PODXL	.	nonsynonymous SNV	PODXL:NM_005397:exon8:c.G1503C:p.E501D,PODXL:NM_001018111:exon9:c.G1599C:p.E533D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.0473608544409	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1431079322	6.84e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.36709	T	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.999985	0.54805	D	2.735	0.79925	M	1.53	0.30401	T	-1.75	0.42001	N	0.705	0.72925	-0.8025	0.54997	T	0.184	0.53331	T	10	0.81317866	0.80582	D	0.047361	0.62888	D	0.239	0.54358	0.728	0.86198	0.528210255337	0.52467	0.1387939184798276	0.13802	0.817353175767	0.66999	0.642235636711	0.58882	T	0.241639	0.61021	T	-0.239911	0.15361	T	-0.485538	0.23860	T	0.877944928774436	0.52786	D	0.818018	0.47523	T	0.3303244	0.55497	0.24105364	0.49494	0.3303244	0.55497	0.24105364	0.49493	-8.004	0.61886	D	.	.	0.692	0.73930	P	.;.	.;.	3.913270	0.57078	23.8	0.99897937894187783	0.97048	0.93110	0.57353	D	AEFDBHCI	0.647334	0.62255	D	0.729859089717941	0.81589	7.557987	0.710599691704944	0.83182	7.955477	0.999999721665391	0.74766	0.67177	0.52595	0	0.759151	0.99529	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.66	5.66	0.87293	3.795000	0.55203	0.594000	0.19852	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.852000	0.40310	0.1543:0.8457:0.0:0.0	13.669	0.61892	951	0.11083	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	66.44	33	chr7	131504389	.	C	G	66.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.674;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-0.524;SOR=0.223	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr7	131505995	131505995	G	A	exonic	PODXL	.	nonsynonymous SNV	PODXL:NM_005397:exon7:c.C1256T:p.P419L,PODXL:NM_001018111:exon8:c.C1352T:p.P451L	.	.	.	.	.	.	.	.	.	.	.	3029114	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.021886012289	0.0005	0.000399361	0.0002	0.0016	0	0	0	0.0001	0	0	0.0001617	25	154602	rs145330930	0.0001	0.0001	0.0001	9.913e-05	0.0019	9.059e-05	8.541e-05	0.0015	0.0013	0.0019	2.246e-05	0	2.522e-05	0	0.0003	6.747e-05	0.0002	0	0.0003	0.0003	0.0003	0.0003	0.0009	0.0002	0.0002	0.0007	0.0006	0.0009	0	0.0001	0	0	0	0	2.94e-05	0.0005	0	0.002	0.72154	D	0.005	0.72224	D	0.999	0.77913	D	0.926	0.67262	D	0.078317	0.21051	N	0.415166	0.999999	0.08975	N	2.695	0.78878	M	1.96	0.22270	T	-6.43	0.91311	D	0.368	0.42443	-1.0526	0.13682	T	0.100	0.37290	T	10	0.05503884	0.05954	T	0.021886	0.44718	T	0.059	0.16972	.	.	0.445811967706	0.44203	0.5133486217521807	0.51256	0.868922861098	0.69327	0.326033711433	0.14335	T	0.388618	0.74925	T	-0.427786	0.01529	T	-0.42264	0.30773	T	0.250241177120953	0.22884	T	0.827517	0.49766	T	0.14739512	0.33698	0.2715093	0.53052	0.14739512	0.33698	0.2715093	0.53051	-10.032	0.74508	D	.	.	0.461	0.62737	A	.;.	.;.	4.615629	0.73244	26.0	0.99748729910404477	0.84077	0.23769	0.22182	N	AEFDBHCI	0.080956	0.16375	N	0.269194451936082	0.54594	3.624657	0.137494279743119	0.46483	2.893566	0.999958983738795	0.48110	0.67177	0.52595	0	0.550933	0.16991	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.33	3.34	0.37357	2.841000	0.47923	5.496000	0.48760	0.676000	0.76740	0.944000	0.32806	1.000000	0.68203	0.113000	0.18872	0.1059:0.0:0.6402:0.2539	5.199	0.14576	952	0.10565	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	1695.46	38	chr7	131505995	.	G	A	1695.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.691;DP=333;ExcessHet=0;FS=0.662;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.398;SOR=0.581	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	6	0	1	0
chr7	132385246	132385246	C	T	exonic	PLXNA4	.	nonsynonymous SNV	PLXNA4:NM_001105543:exon4:c.G1421A:p.R474Q	.	429	1092	1	0	0	1	0.000457666	.	.	.	2797537	PLXNA4-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.00313185050338	8.3e-05	0.000199681	4.158e-05	0.0004	0	0	0	0	0.0011	0	3.88e-05	6	154602	rs191301122	3.626e-05	3.625e-05	3.267e-05	3.988e-05	0.0008	2.828e-05	2.565e-05	0.0005	0.0005	0.0008	0	0	0	0	0	1.709e-05	8.28e-05	3.479e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	9.703e-05	0.0004	0.0004	0.0006	0	0	0	0	0	0	0	0	0	0.148	0.24857	T	0.383	0.15842	T	0.154	0.28120	B	0.029	0.21540	B	.	.	.	.	1	0.08975	N	.	.	.	4.35	0.02319	T	0.04	0.06488	N	0.044	0.01658	-0.9190	0.45689	T	0.006	0.02093	T	8	0.02604866	0.00781	T	0.003132	0.06815	T	0.027	0.05988	.	.	0.0675242888579	0.06100	.	.	.	.	.	.	.	.	.	.	-0.666725	0.00057	T	-0.841447	0.01077	T	0.00662330351769924	0.00074	T	0.450355	0.12714	T	.	.	.	.	.	.	.	.	-3.628	0.18263	T	.	.	0.086	0.10835	B	.	.	0.503214	0.08720	5.496	0.87132209909720393	0.17010	0.05037	0.10822	N	AEFBI	0.074483	0.14930	N	-1.08078241999877	0.06997	0.3237741	-1.12280288362718	0.07265	0.3527748	0.789428794959677	0.23989	0.475973	0.10046	0	0.59043	0.45803	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	5.33	1.59	0.22622	0.148000	0.16042	-0.072000	0.12285	-0.850000	0.02721	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5993:0.15:0.2506	5.088	0.14026	909	0.22467	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	748.49	43	chr7	132385246	.	C	T	748.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.358;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.41;ReadPosRankSum=1.02;SOR=0.88	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1233	6	0	1	0
chr7	132385292	132385292	G	C	exonic	PLXNA4	.	nonsynonymous SNV	PLXNA4:NM_001105543:exon4:c.C1375G:p.P459A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00484313753656	.	.	8.415e-06	0	0	0	0	1.508e-05	0	0	6.5e-06	1	154602	rs767146699	4.797e-06	4.788e-06	6.818e-06	2.755e-06	1.167e-05	2e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.5e-06	1.659e-05	1.167e-05	6.566e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.339	0.12754	T	1.0	0.01155	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	.	.	.	4.45	0.02121	T	-0.35	0.12847	N	0.109	0.09490	-0.8966	0.48331	T	0.004	0.01295	T	8	0.043824255	0.03272	T	0.004843	0.12130	T	0.019	0.03383	0.465	0.53566	0.082315109003	0.07666	.	.	.	.	.	.	.	.	.	.	-0.390706	0.02662	T	-0.798999	0.01928	T	0.0284664792401554	0.01756	T	0.246775	0.03632	T	.	.	.	.	.	.	.	.	-3.249	0.13088	T	.	.	0.074	0.05145	B	.	.	-0.492402	0.01892	0.156	0.19164838034394102	0.00635	0.03640	0.08888	N	AEFBI	0.053848	0.09739	N	-1.24402724861257	0.04378	0.1975006	-1.30249583405524	0.04398	0.2073556	0.746131888491269	0.23288	0.475973	0.10046	0	0.59043	0.45803	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	4.72	-0.697	0.10716	-0.219000	0.09233	-0.458000	0.09056	-0.119000	0.14319	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1759:0.1443:0.3853:0.2945	1.229	0.01821	910	0.22284	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	538.63	20	chr7	132385292	.	G	C	538.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.526;DP=199;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-1.223;SOR=0.623	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1233	6	0	1	0
chr7	135045566	135045566	C	T	exonic	AGBL3	.	nonsynonymous SNV	AGBL3:NM_001345850:exon5:c.C223T:p.R75W,AGBL3:NM_001345853:exon5:c.C223T:p.R75W,AGBL3:NM_001367814:exon5:c.C223T:p.R75W,AGBL3:NM_001345851:exon6:c.C223T:p.R75W,AGBL3:NM_001345852:exon6:c.C223T:p.R75W,AGBL3:NM_178563:exon10:c.C1720T:p.R574W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.0200766221207	0.0022	0.00219649	0.0009	0.0079	0	0	0	0	0	0.0003	0.0002393	37	154602	rs12112868	0.0002	0.0002	0.0003	0.0002	0.0071	0.0002	0.0002	0.0063	0.0060	0.0071	0.0004	0	2.8e-05	0	0.0005	3.339e-05	0.0007	0.0002	0.0020	0.0020	0.0021	0.0019	0.0070	0.0018	0.0018	0.0063	0.0060	0.0070	0	0.0007	0	0	0	0	5.882e-05	0.0014	0.0002	0.002	0.72154	D	0.013	0.63109	D	0.997	0.70673	D	0.827	0.59428	P	0.006692	0.31864	N	0.335418	0.539087	0.32039	D	2.395	0.69210	M	1.48	0.31731	T	-4.1	0.74900	D	0.299	0.33796	-0.7260	0.59164	T	0.100	0.37060	T	10	0.0038326979	0.00072	T	0.020077	0.42598	T	0.120	0.33359	.	.	0.229264304666	0.22521	0.486428356344686	0.48562	.	.	0.40850058198	0.26249	T	.	.	.	-0.444966	0.01209	T	-0.408074	0.32447	T	0.0636300485061321	0.07727	T	0.757524	0.38090	T	.	.	.	.	.	.	.	.	-8.968	0.67491	D	.	.	0.220	0.46756	B	.;.	.;.	4.152925	0.62308	24.4	0.99917972673248778	0.98518	0.85597	0.44746	D	AEFI	0.560277	0.56875	D	0.333954005248158	0.57900	3.959202	0.2600046047837	0.53220	3.492083	0.882412649476098	0.25652	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.46	3.56	0.39892	0.712000	0.25450	0.698000	0.20823	0.599000	0.40250	0.010000	0.18352	0.156000	0.23222	0.989000	0.64315	0.3579:0.6421:0.0:0.0	12.313	0.54260	651	0.62880	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1074.44	38	chr7	135045566	.	C	T	1074.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.85;DP=358;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.39;ReadPosRankSum=0.886;SOR=0.629	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	6	0	1	0
chr7	135189437	135189437	C	A	exonic	WDR91	.	nonsynonymous SNV	WDR91:NM_001362737:exon12:c.G1753T:p.D585Y,WDR91:NM_001362738:exon12:c.G946T:p.D316Y,WDR91:NM_014149:exon12:c.G1675T:p.D559Y,WDR91:NM_001362736:exon13:c.G1732T:p.D578Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.0363443790237	0.0021	0.00219649	0.0006	0.0067	0.0002	0	0	0	0	6.092e-05	0.0005498	85	154602	rs146344312	0.0002	0.0002	0.0002	0.0002	0.0070	0.0002	0.0002	0.0063	0.0060	0.0070	0.0004	0	0	5.617e-05	0.0003	4.497e-06	0.0005	6.957e-05	0.0020	0.0020	0.0021	0.0019	0.0069	0.0018	0.0017	0.0062	0.0059	0.0069	0	0.0007	0	0	0	0	1.47e-05	0.0014	0	0.006	0.61437	D	0.008	0.72224	D	0.986	0.61523	D	0.915	0.65091	D	0.000007	0.62929	D	0.142021	0.999997	0.58761	D	1.19	0.30124	L	0.33	0.66834	T	-3.22	0.64939	D	0.532	0.56058	-0.3274	0.74209	T	0.298	0.66961	T	10	0.010089695	0.00226	T	0.036344	0.56932	D	0.282	0.59981	.	.	0.710967495745	0.70844	0.27787263572339094	0.27700	1.06277919278	0.76532	0.593787968159	0.52029	T	0.069047	0.60502	T	-0.244337	0.14801	T	-0.120163	0.61788	T	0.0586754524251119	0.06957	T	0.948805	0.80311	D	0.75857735	0.81369	0.43471125	0.66982	0.75857735	0.81371	0.43471125	0.66982	-12.47	0.87064	D	.	.	0.176	0.38426	B	.;.	.;.	5.467546	0.91239	32	0.99477054750918037	0.66687	0.96765	0.70819	D	AEFBCI	0.867755	0.78764	D	0.682561578307833	0.78491	6.882123	0.679972896311771	0.80863	7.393772	0.999999999999995	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.62	4.62	0.56946	7.660000	0.82762	7.674000	0.64943	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	18.014	0.89155	489	0.76795	WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	918.46	33	chr7	135189437	.	C	A	918.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.918;DP=235;ExcessHet=0;FS=3.824;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=-0.887;SOR=0.492	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1126	6	0	1	0
chr7	138918668	138918668	C	T	exonic	KIAA1549	.	nonsynonymous SNV	KIAA1549:NM_001164665:exon2:c.G958A:p.D320N,KIAA1549:NM_020910:exon2:c.G958A:p.D320N	.	427	1092	3	0	0	3	0.00137174	.	.	.	735985	not_provided|Retinitis_pigmentosa_86	MedGen:C3661900|MONDO:MONDO:0032834,MedGen:C5231428,OMIM:618613	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.118	.	0.0095	0.0101837	0.0030	0.0344	0.0015	0	0	9.01e-05	0.0033	6.058e-05	0.0028848	446	154602	rs61978615	0.0011	0.0011	0.0012	0.0009	0.0349	0.0010	0.0010	0.0332	0.0326	0.0349	0.0020	0	0	0	0.0029	0.0001	0.0027	6.956e-05	0.0100	0.0100	0.0106	0.0093	0.0344	0.0096	0.0094	0.0329	0.0323	0.0344	0	0.0041	0	0	0	0.0204	0.0001	0.0071	0.0002	0.007	0.61437	D	0.172	0.30339	T	0.728	0.42542	P	0.294	0.40804	B	0.660225	0.10434	N	0.819182	1	0.08975	N	1.59	0.40313	L	1.67	0.27331	T	-1.54	0.37375	N	0.274	0.37509	-1.0998	0.04116	T	0.015	0.06282	T	10	0.0029546022	0.00048	T	.	.	.	0.118	0.32913	.	.	0.0934897674506	0.08844	0.23551674829080116	0.23466	0.262930831801	0.28855	0.26308837533	0.05263	T	0.017759	0.14435	T	-0.654922	0.00068	T	-0.687067	0.06561	T	0.0231328903208934	0.01039	T	0.50065	0.15660	T	0.07802156	0.17744	0.07310725	0.15848	0.08563411	0.19870	0.07698035	0.17103	-4.271	0.27768	T	.	.	0.100	0.17189	B	.;.	.;.	1.552456	0.19892	14.49	0.99727138347667965	0.82477	0.38723	0.26052	N	AEFBI	0.105446	0.21069	N	-0.451147647173454	0.23700	1.274627	-0.505783030518253	0.21996	1.192564	0.725896491144352	0.22987	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.43	3.53	0.39533	2.973000	0.48956	0.973000	0.23072	0.599000	0.40250	0.018000	0.19461	0.002000	0.18203	0.665000	0.33109	0.0:0.821:0.179:0.0	11.648	0.50529	550	0.72197	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.010574	0.005051	0.020380	0.011696	0.000000	0.000000	0.000000	0.003788	0.07143	1847.44	43	chr7	138918668	.	C	T	1847.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.11;DP=397;ExcessHet=0;FS=1.908;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=0.21;SOR=0.552	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr7	139231951	139231951	G	C	exonic	UBN2	.	nonsynonymous SNV	UBN2:NM_173569:exon1:c.G467C:p.R156P	.	414	1099	9	0	0	9	0.00407793	0.2541	0.448	.	710819	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.193	.	0.0065	0.00519169	0.0075	0.0011	0.0062	0.0001	0.0105	0.0108	0.0074	0.0019	0.0070504	1090	154602	rs141209093	0.0084	0.0084	0.0085	0.0084	0.0096	0.0083	0.0083	0.0094	0.0094	0.0010	0.0069	0.0036	2.776e-05	0.0096	0.0078	0.0096	0.0078	0.0019	0.0071	0.0072	0.0074	0.0068	0.0117	0.0068	0.0067	0.0110	0.0107	0.0014	0.0011	0.0067	0.0029	0.0002	0.0086	0.0034	0.0117	0.0100	0.0017	0.004	0.65419	D	0.143	0.33219	T	0.876	0.48154	P	0.327	0.41976	B	0.109816	0.19468	N	0.510471	0.999981	0.54805	D	1.24	0.30952	L	1.3	0.35590	T	-1.83	0.42957	N	0.41	0.45047	-0.9811	0.34748	T	0.048	0.20513	T	10	0.006573856	0.00149	T	.	.	.	0.193	0.47281	.	.	0.0675242888579	0.06100	0.1881890492017854	0.18736	0.167797391371	0.18917	0.61440384388	0.54937	T	0.174	0.52374	T	-0.304387	0.08252	T	-0.196381	0.54990	T	0.01703467782003	0.00451	T	0.777822	0.41150	T	0.51757896	0.68120	0.61401516	0.77537	0.51757896	0.68121	0.61401516	0.77538	-2.776	0.07964	T	.	.	0.363	0.57411	A	.	.	4.261129	0.64760	24.7	0.99450904452626188	0.65274	0.85155	0.44264	D	AEFDGBCI	0.872707	0.79469	D	0.308146102837721	0.56565	3.82148	0.316999960761909	0.56540	3.817293	0.99999999995234	0.74766	0.65757	0.49021	0	0.609123	0.50646	0	0.619478	0.44681	0	0.665054	0.64577	0	.	.	3.49	3.49	0.39065	2.880000	0.48228	11.410000	0.92689	0.612000	0.49041	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	15.146	0.72337	917	0.20147	.	.	.	FMC1	Pituitary	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006270	0.005495	0.006831	0.009554	0.000000	0.000000	0.003185	0.000000	0.08333	696.27	36	chr7	139231951	.	G	C	696.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.338;DP=218;ExcessHet=0;FS=2.302;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.025;SOR=0.402	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1028	5	0	1	1
chr7	139913142	139913142	C	A	exonic	TBXAS1	.	stopgain	TBXAS1:NM_001366538:exon5:c.C411A:p.C137X	Ghosal hematodiaphyseal syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.94568	0.37497	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.408657	0.02029	T	-0.824784	0.01358	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190759	0.05771	2.212	0.97397709908770258	0.33755	0.05709	0.11631	N	AEFDBCI	0.036277	0.04807	N	-0.65844525385131	0.17214	0.8839325	-0.855371065862093	0.13159	0.6810905	0.999993329234048	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.615948	0.41167	0	0.567892	0.33627	0	.	.	2.88	-0.234	0.12430	-0.260000	0.08730	-0.492000	0.08854	0.389000	0.20474	0.000000	0.06391	0.000000	0.08366	0.086000	0.17578	0.0:0.44:0.4278:0.1322	4.936	0.13292	833	0.38804	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	35	chr7	139913142	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1309	6	1	0	0
chr7	140567118	140567118	C	T	exonic	DENND2A	.	nonsynonymous SNV	DENND2A:NM_001318052:exon8:c.G1747A:p.V583M,DENND2A:NM_001318053:exon9:c.G1747A:p.V583M,DENND2A:NM_001362678:exon9:c.G1747A:p.V583M,DENND2A:NM_015689:exon9:c.G1747A:p.V583M	.	.	.	.	.	.	.	.	.	.	.	3236884	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.086	0.00723957101123	0.0002	.	7.526e-05	0	0.0003	0.0002	0	7.027e-05	0	0	6.47e-05	10	154602	rs374336112	9.088e-05	9.166e-05	9.849e-05	8.316e-05	0.0002	7.806e-05	7.346e-05	0.0001	7.924e-05	0	0.0001	0	0.0002	1.893e-05	0	0.0001	4.994e-05	4.744e-05	7.232e-05	7.223e-05	7.712e-05	6.729e-05	0.0003	3.973e-05	3.129e-05	8.892e-05	5.396e-05	0	0	0.0003	0	0	0	0	0.0001	0	0	0.069	0.37536	T	0.098	0.39645	T	0.216	0.66517	B	0.418	0.59497	B	0.306581	0.14506	N	0.672465	0.599165	0.30955	N	1.525	0.38595	L	3.54	0.10771	T	-1.23	0.32185	N	0.317	0.40864	-1.1293	0.01816	T	0.040	0.17234	T	10	0.23405463	0.40437	T	0.00724	0.19198	T	0.086	0.25016	.	.	0.260580752073	0.25663	0.16727437323684283	0.16647	0.513973921852	0.49362	0.606631875038	0.53840	T	0.016563	0.13667	T	-0.371025	0.03542	T	-0.46021	0.26575	T	0.131620393463703	0.15531	T	0.948505	0.80194	D	0.06721271	0.14533	0.08856019	0.20656	0.06721271	0.14532	0.08856019	0.20655	-8.91	0.67116	D	.	.	0.117	0.23709	B	.;.;.;.	.;.;.;.	4.345670	0.66707	25.0	0.99817327450407467	0.90061	0.80531	0.40144	D	AEFDBI	0.245246	0.36622	N	0.279707136578199	0.55120	3.676409	0.367261067875506	0.59553	4.134277	0.999999255980214	0.74766	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.86	4.95	0.64894	1.755000	0.38008	5.912000	0.51036	0.581000	0.30040	0.927000	0.32177	1.000000	0.68203	0.916000	0.45140	0.0:0.7928:0.1318:0.0754	10.919	0.46367	657	0.62240	Tripartite DENN domain|uDENN domain;Tripartite DENN domain|uDENN domain;Tripartite DENN domain|uDENN domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1821.44	37	chr7	140567118	.	C	T	1821.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.386;DP=370;ExcessHet=0;FS=1.179;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=-0.615;SOR=0.796	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1475	6	0	1	0
chr7	142060310	142060310	G	A	splicing	MGAM	NM_001365693:exon34:c.4060-1G>A;NM_004668:exon34:c.4060-1G>A	.	.	.	435	1084	3	0	0	3	0.00138185	1.0000	0.89	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	4.977e-05	0	8.684e-05	0	0	0	0	0.0003	4.53e-05	7	154602	rs554705939	2.532e-05	3.078e-05	2.042e-05	3.026e-05	0.0002	1.868e-05	1.631e-05	0.0001	0.0001	0	0.0002	0	0	0	0.0002	2.698e-06	8.283e-05	0.0002	8.533e-05	0.0001	5.139e-05	0.0001	0.0008	4.952e-05	3.959e-05	0.0005	0.0004	0	0	0.0008	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0615913	0.42659	T	-0.0327611	0.68186	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.247041	0.88089	29.5	0.98036714890257282	0.37758	0.99005	0.89843	D	AEFDBI	.	.	.	0.880100548799754	0.90753	10.54864	0.643945629922265	0.78160	6.820816	0.999955437514231	0.48110	0.053691	0.00478	0	0.059962	0.00310	0	0.063197	0.01477	0	0.062806	0.01542	0	0.797233	0.47171	3.89	3.89	0.44098	9.538000	0.97148	.	.	0.342000	0.19800	1.000000	0.71638	1.000000	0.68203	0.092000	0.17891	0.0:0.0:1.0:0.0	14.699	0.68758	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1258.44	308	chr7	142060310	.	G	A	1258.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.754;DP=1326;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.09;ReadPosRankSum=0.29;SOR=0.664	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:297,0:297:99:.:.:0,120,1800:.	6	0	1	0
chr7	142071047	142071047	C	A	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon44:c.C5115A:p.D1705E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00109310935119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.091e-07	6.986e-07	0	1.425e-06	1.182e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.182e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.30097	T	0.236	0.24694	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	-1.86	0.43524	N	0.174	0.18649	-1.0280	0.21103	T	0.061	0.25528	T	5	0.161971	0.30368	T	0.001093	0.01287	T	0.061	0.17616	0.636	0.77251	0.370424759081	0.36655	.	.	.	.	.	.	.	.	.	.	-0.293401	0.09297	T	-0.659226	0.08319	T	0.0778808118809668	0.09714	T	0.737626	0.35462	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23290	B	.	.	1.020081	0.13998	10.56	0.96028686533489516	0.28497	0.15997	0.19182	N	AEFGI	0.237412	0.35970	N	-0.466239565946096	0.23193	1.243749	-0.536314488460948	0.21170	1.143978	0.0316321758346684	0.14013	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.89	1.94	0.25058	-2.328000	0.01193	.	.	0.328000	0.19510	0.000000	0.06391	0.000000	0.08366	0.679000	0.33513	0.0:0.5798:0.1988:0.2213	4.462	0.11092	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	890.27	27	chr7	142071047	.	C	A	890.27	.	AC=2;AF=0.143;AN=14;DP=204;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=59.19;QD=30.7;SOR=0.906	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1291	6	1	0	0
chr7	142080827	142080827	G	A	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon50:c.G5884A:p.V1962I	.	449	1053	20	0	0	20	0.00940734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	.	0.0419329	0.0191	0.0086	0.0013	0.0637	0	0.0014	0.0127	0.0926	0.0165522	2559	154602	rs117482862	0.0082	0.0081	0.0059	0.0105	0.0851	0.0080	0.0080	0.0834	0.0827	0.0082	0.0012	0.0098	0.0623	1.941e-05	0.0069	0.0005	0.0119	0.0851	0.0087	0.0088	0.0072	0.0102	0.0981	0.0083	0.0081	0.0906	0.0877	0.0081	0	0.0031	0.0114	0.0677	0	0	0.0009	0.0050	0.0981	.	.	.	0.587	0.08302	T	.	.	.	.	.	.	.	.	.	.	0.994818	0.81001	P	.	.	.	.	.	.	.	.	.	0.065	0.03726	-0.9829	0.34328	T	0.021	0.08732	T	4	0.0026019514	0.00040	T	.	.	.	0.018	0.03083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.527307	0.00398	T	-0.483103	0.24118	T	0.0256323700263927	0.01357	T	0.853415	0.53896	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.03231	B	.	.	1.588516	0.20318	14.69	0.66264928345314078	0.08008	0.91791	0.54270	D	AEFDGI	0.291667	0.40274	N	-0.116246398793108	0.36684	2.123831	-0.125400422807833	0.34370	1.976225	0.0231090643267659	0.13482	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.67	2.87	0.32523	2.151000	0.41888	.	.	0.672000	0.70159	0.996000	0.39380	0.049000	0.21787	0.512000	0.29290	0.1689:0.0:0.8311:0.0	9.987	0.41019	.	.	Galactose mutarotase, N-terminal barrel	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2222.53	33	chr7	142080827	.	G	A	2222.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.425;DP=370;ExcessHet=0;FS=2.455;MLEAC=1;MLEAF=0.071;MQ=59.92;MQRankSum=-1.771;QD=11.34;ReadPosRankSum=-0.979;SOR=0.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	6	0	1	0
chr7	142082146	142082146	C	T	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon51:c.C6107T:p.T2036M	.	448	1054	20	0	0	20	0.0093985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	.	.	0.038139	0.0181	0.0006	0.0012	0.0627	0	0.0013	0.0116	0.0905	0.0155755	2408	154602	rs146424332	0.0078	0.0077	0.0056	0.0101	0.0837	0.0077	0.0076	0.0821	0.0814	0.0005	0.0006	0.0098	0.0621	1.949e-05	0.0041	0.0005	0.0110	0.0837	0.0063	0.0065	0.0047	0.0079	0.0929	0.0059	0.0058	0.0856	0.0827	0.0007	0	0.0023	0.0105	0.0685	0	0	0.0009	0.0035	0.0929	.	.	.	0.067	0.44302	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.43508	P	.	.	.	.	.	.	.	.	.	0.177	0.19055	-0.5535	0.66653	T	0.061	0.25528	T	4	0.00842607	0.00191	T	.	.	.	0.121	0.33580	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.608673	0.00129	T	-0.581149	0.14441	T	0.00804062219955659	0.00095	T	0.663534	0.27241	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.19879	B	.	.	0.675745	0.10444	7.162	0.93531141229131842	0.23353	0.12682	0.17416	N	AEFGI	0.096322	0.19447	N	-0.674401694949678	0.16753	0.8563336	-0.748805548267265	0.15752	0.8299869	0.00127193875816042	0.08400	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	5.2	2.23	0.27189	-1.104000	0.03436	.	.	-1.757000	0.00681	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4823:0.5177:0.0	15.912	0.79263	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2924.44	35	chr7	142082146	.	C	T	2924.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.16;DP=458;ExcessHet=0;FS=1.744;MLEAC=1;MLEAF=0.071;MQ=55.86;MQRankSum=-5.127;QD=14.13;ReadPosRankSum=3.51;SOR=0.55	GT:AD:DP:GQ:PL	0/0:86,0:86:99:0,120,1800	6	0	1	0
chr7	142082570	142082570	G	A	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon52:c.G6267A:p.M2089I	.	449	1053	20	0	0	20	0.00940734	0.9497	0.81	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	.	.	0.0421326	0.0339	0.0130	0.0035	0.1053	0	0.0028	0.0094	0.1007	0.0145147	2244	154602	rs149265215	0.0079	0.0080	0.0057	0.0102	0.0843	0.0078	0.0077	0.0827	0.0820	0.0080	0.0011	0.0099	0.0618	2.204e-05	0.0068	0.0005	0.0118	0.0843	0.0085	0.0088	0.0071	0.0099	0.0956	0.0081	0.0079	0.0882	0.0853	0.0079	0	0.0029	0.0114	0.0673	0	0	0.0009	0.0040	0.0956	.	.	.	0.198	0.27767	T	.	.	.	.	.	.	.	.	.	.	0.00484165	0.81001	P	.	.	.	.	.	.	.	.	.	0.291	0.32921	-0.5734	0.65879	T	0.078	0.31224	T	4	0.0029990375	0.00049	T	.	.	.	0.308	0.62947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.253381	0.13687	T	-0.130485	0.60930	T	0.0204835161029945	0.00748	T	0.920008	0.71084	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.868	0.80734	P	.	.	4.631355	0.73641	26.0	0.99160228913287085	0.54071	0.98609	0.84658	D	AEFI	0.891207	0.82696	D	0.481528758558236	0.66012	4.895369	0.539012016460714	0.70635	5.534473	0.999999662943052	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.83	4.83	0.61880	7.842000	0.85116	.	.	0.646000	0.52725	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:1.0:0.0	17.053	0.86398	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	5160.44	36	chr7	142082570	.	G	A	5160.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.07;DP=731;ExcessHet=0;FS=4.041;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.818;SOR=1.014	GT:AD:DP:GQ:PL	0/0:140,0:140:99:0,120,1800	6	0	1	0
chr7	142093546	142093546	T	C	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon60:c.T7168C:p.Y2390H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0112410096422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.14912	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.654	0.66443	-1.0320	0.19809	T	0.091	0.34737	T	5	0.6287559	0.68394	D	0.011241	0.28661	T	0.104	0.29647	.	.	0.533904276971	0.53040	.	.	.	.	.	.	.	.	.	.	0.106945	0.65033	D	-0.0841567	0.64598	T	0.709400296211243	0.41171	D	0.654235	0.26451	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.47316	B	.	.	3.047894	0.40890	21.3	0.96558532447621426	0.30251	0.92037	0.54805	D	AEFBI	0.612280	0.60041	D	0.204840794140855	0.51433	3.324618	0.274113024027221	0.54031	3.569558	0.143861845610114	0.17322	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.95	4.95	0.64894	4.949000	0.63298	.	.	0.641000	0.52212	1.000000	0.71638	1.000000	0.68203	0.677000	0.33454	0.0:0.0:0.0:1.0	13.881	0.63183	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	213.44	35	chr7	142093546	.	T	C	213.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.114;DP=308;ExcessHet=0;FS=2.059;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=1.28;SOR=1.402	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr7	142752484	142752484	A	G	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon4:c.A508G:p.K170E	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	508821	Hereditary_pancreatitis|not_provided|not_specified	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.284	.	.	0.00159744	0.5000	0.5	0.5	0.5	0.5	0.5000	0.5	0.5	0.0485631	1264	26028	rs201550522	0.0007	0.0007	0.0004	0.0010	0.0109	0.0007	0.0006	0.0103	0.0101	8.962e-05	2.236e-05	0	2.519e-05	1.872e-05	0.0007	4.497e-06	0.0008	0.0109	0.0003	0.0003	0.0002	0.0005	0.0089	0.0002	0.0002	0.0068	0.0061	7.214e-05	0	0.0002	0	0	0	0	0	0	0.0089	0.387	0.13131	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.582927	0.05546	N	1.175380	1	0.08975	N	-0.42	0.02904	N	-2.37	0.88220	D	0.93	0.01551	N	0.029	0.01498	-1.0812	0.07118	T	0.000	0.00011	T	10	0.02430904	0.00664	T	.	.	.	0.284	0.60219	.	.	.	.	0.5059237206426678	0.50514	0.22924456839	0.25486	0.274791926146	0.06776	T	0.30598	0.67821	T	-0.118317	0.33399	T	-0.40773	0.32487	T	0.0125569156148535	0.00208	T	.	.	.	0.16364932	0.36520	0.19005057	0.42386	0.22228056	0.44823	0.17333195	0.39651	-1.627	0.02045	T	.	.	0.099	0.18910	B	.;.;.;.	.;.;.;.	-2.279129	0.00053	0.001	0.11901653757417319	0.00192	0.00183	0.01069	N	AEFBI	0.173148	0.30021	N	-2.14012544445484	0.00104	0.004467639	-2.21358174570785	0.00104	0.00458712	0.176891010153521	0.17816	0.446893	0.09132	0	0.457222	0.06608	2	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.28	-6.56	0.01680	-3.971000	0.00364	.	.	-4.951000	0.00017	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.163:0.5271:0.2031:0.1068	5.581	0.16531	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.495468	0.500000	0.500000	0.482456	0.500000	0.500000	0.503049	0.496212	0.07143	2606.44	130	chr7	142752484	.	A	G	2606.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.234;DP=889;ExcessHet=0;FS=2.61;MLEAC=1;MLEAF=0.071;MQ=59.94;MQRankSum=-1.507;QD=14.56;ReadPosRankSum=0.532;SOR=0.751	GT:AD:DP:GQ:PL	0/0:214,0:214:99:0,120,1800	6	0	1	0
chr7	143027071	143027071	C	T	exonic	OR9A2	.	nonsynonymous SNV	OR9A2:NM_001001658:exon1:c.G62A:p.G21E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.000526751440438	.	.	8.414e-06	0	0	0	0	1.514e-05	0	0	6.5e-06	1	154602	rs767279009	6.844e-07	6.84e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	6.582e-06	6.57e-06	1.287e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.976630	0.08122	N	0.981208	1	0.08975	N	-1.16	0.00885	N	7.46	0.00389	T	2.94	0.00149	N	0.052	0.02366	-1.0297	0.20551	T	0.000	0.00152	T	10	0.052545995	0.05306	T	5.27E-4	0.00185	T	0.022	0.04323	0.308	0.27967	0.20549828249	0.20151	0.09273523398764016	0.09205	0.29252553356	0.31669	0.179946690798	0.00093	T	0.002532	0.01924	T	-0.390525	0.02669	T	-0.798738	0.01934	T	0.0376326387726559	0.03267	T	0.188181	0.01975	T	0.04355794	0.06808	0.05617035	0.09989	0.04355794	0.06808	0.05617035	0.09988	-1.334	0.01457	T	.	.	0.072	0.04277	B	.	.	-0.273077	0.02738	0.364	0.3028240062562208	0.01648	0.00145	0.00883	N	AEFBI	0.019006	0.00622	N	-1.52191352228829	0.01706	0.0746667	-1.44070822059669	0.02855	0.1321229	0.914945735039633	0.26468	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.31	1.68	0.23219	0.980000	0.29111	0.151000	0.15292	-0.167000	0.11441	0.001000	0.13787	0.000000	0.08366	0.016000	0.10718	0.0:0.1989:0.0:0.8011	7.130	0.24673	851	0.35303	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	64.44	34	chr7	143027071	.	C	T	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1277:.	6	0	1	0
chr7	143222124	143222124	T	C	exonic	TAS2R40	.	nonsynonymous SNV	TAS2R40:NM_176882:exon1:c.T46C:p.F16L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00384408953037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.33091	T	0.127	0.35082	T	0.005	0.12996	B	0.011	0.15521	B	0.544426	0.11502	U	0.734359	1	0.08975	N	1.135	0.28956	L	1.23	0.36872	T	-0.42	0.14193	N	0.1	0.08227	-0.9929	0.31853	T	0.034	0.14683	T	10	0.0717769	0.10627	T	0.003844	0.08992	T	0.073	0.21317	0.505	0.59924	0.130388298395	0.12655	0.21878284822064326	0.21794	0.138311207975	0.15596	0.396091401577	0.24525	T	0.00115	0.00660	T	-0.302923	0.08386	T	-0.672905	0.07424	T	0.0550062544643879	0.06357	T	0.355964	0.08087	T	0.066289976	0.14247	0.049054414	0.07414	0.066289976	0.14247	0.049054414	0.07414	-2.649	0.06885	T	.	.	0.414	0.60367	A	.	.	0.580512	0.09490	6.268	0.78947587317010115	0.12523	0.05297	0.11143	N	AEFBI	0.034375	0.04245	N	-1.17155969987232	0.05435	0.2477336	-1.15801875715919	0.06625	0.3195216	0.999601990964049	0.40866	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.76	0.653	0.17000	-0.212000	0.09323	-0.243000	0.10574	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2455:0.188:0.5665	3.712	0.07951	867	0.32089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1374.44	35	chr7	143222124	.	T	C	1374.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.79;DP=287;ExcessHet=0;FS=4.144;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-0.458;SOR=1.203	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1367	6	0	1	0
chr7	143478290	143478290	A	G	exonic	TAS2R41	.	nonsynonymous SNV	TAS2R41:NM_176883:exon1:c.A418G:p.I140V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00241750934598	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373019967	6.544e-06	0.0009	4.362e-06	8.725e-06	7.733e-06	3.08e-06	2.23e-06	3.33e-06	2.4e-06	0	0	0	0	1.901e-05	0	7.733e-06	0	0	0	1.985e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.412	0.14456	T	0.08	0.24543	B	0.074	0.28220	B	0.947612	0.07634	N	1.033800	1	0.08975	N	1.015	0.25427	L	5.65	0.00784	T	-0.47	0.15178	N	0.052	0.02366	-0.9758	0.35948	T	0.003	0.01092	T	10	0.07525703	0.11609	T	0.002418	0.04757	T	0.028	0.06331	0.652	0.78963	0.101711395817	0.09552	0.04758141662796776	0.04701	0.0497017490909	0.05451	0.254782557487	0.04288	T	0.002724	0.02115	T	-0.393424	0.02556	T	-0.802903	0.01831	T	0.103939465538467	0.12785	T	.	.	.	0.047795918	0.08228	0.037618708	0.03453	0.047795918	0.08227	0.037618708	0.03453	-3.217	0.12689	T	.	.	0.092	0.13503	B	.	.	-1.055815	0.00695	0.020	0.53951675314367431	0.05040	0.01208	0.04299	N	AEFBI	0.032596	0.03711	N	-1.54910637092624	0.01540	0.06726581	-1.68964110834314	0.01184	0.05327442	0.999999965671774	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.7	-8.61	0.00769	-1.143000	0.03311	-0.836000	0.07236	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.279:0.1065:0.5102:0.1042	6.528	0.21510	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	305.24	55	chr7	143478290	.	A	G	305.24	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.763;DP=337;ExcessHet=0.4139;FS=159.303;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.3;ReadPosRankSum=1.22;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,17:78:99:0|1:143478290_A_G:208,0,2252:143478290	4	0	2	1
chr7	143571909	143571909	G	T	exonic	CTAGE15	.	nonsynonymous SNV	CTAGE15:NM_001008747:exon1:c.G92T:p.R31I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00182420739446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.53072	D	0.9	0.49598	P	0.578	0.50118	P	.	.	.	.	.	.	.	2.68	0.78455	M	1.27	0.36146	T	.	.	.	0.306	0.34552	.	.	.	.	.	.	.	0.27959868	0.45532	T	0.001824	0.03141	T	.	.	.	.	0.043077524339	0.03247	0.34746457215475346	0.34660	.	.	0.502695560455	0.39203	T	0.207791	0.56754	T	-0.0285621	0.47626	T	-0.278804	0.46927	T	.	.	.	.	.	.	0.12678652	0.29686	0.13734	0.32831	0.12678652	0.29686	0.13734	0.32830	-12.259	0.86089	D	.	.	0.162	0.35788	B	.	.	2.133118	0.27159	17.37	0.46284182752233149	0.03696	0.13065	0.17643	N	AEFI	0.033341	0.03935	N	.	.	.	.	.	.	1.56655739909064E-6	0.01202	0.164513	0.03853	0	0.195528	0.04277	0	0.078618	0.02440	0	0.101684	0.03063	0	.	.	0.732	0.732	0.17433	1.355000	0.33671	1.105000	0.24105	0.245000	0.18292	1.000000	0.71638	0.402000	0.24716	0.011000	0.09372	0.0:0.0:1.0:0.0	4.79	0.12613	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	113.4	35	chr7	143571909	.	G	T	113.4	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.304;DP=319;ExcessHet=0;FS=69.396;MLEAC=1;MLEAF=0.083;MQ=33.58;MQRankSum=-1.583;QD=0.7;ReadPosRankSum=1.37;SOR=6.666	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1175	5	0	1	1
chr7	143720089	143720089	G	A	exonic	TCAF2	.	nonsynonymous SNV	TCAF2:NM_001130026:exon2:c.G538A:p.A180T,TCAF2:NM_001365428:exon2:c.G187A:p.A63T,TCAF2:NM_001363538:exon3:c.G1030A:p.A344T,TCAF2:NM_001365429:exon3:c.G1030A:p.A344T,TCAF2:NM_001365430:exon3:c.G1030A:p.A344T,TCAF2:NM_173678:exon3:c.G1030A:p.A344T	.	467	1054	1	0	0	1	0.000474158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00921965722723	.	.	.	.	.	.	.	.	.	.	.	.	.	rs577661173	1.375e-06	2.056e-06	2.736e-06	0	1.163e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.018e-07	0	1.163e-05	2.017e-05	1.987e-05	3.941e-05	0	0.0001	5.36e-06	2.49e-06	2.301e-05	9.22e-06	0	0	0.0001	0	0	0	0	1.48e-05	0	0	0.163	0.23541	T	0.288	0.23231	T	0.866	0.64070	P	0.591	0.67560	P	0.160450	0.17680	N	0.603500	0.878881	0.28255	N	.	.	.	1.97	0.22067	T	-2.03	0.46673	N	0.22	0.28264	-0.9878	0.33151	T	0.106	0.38661	T	10	0.09340078	0.16526	T	0.00922	0.24225	T	0.051	0.14325	0.22	0.14224	0.0297737177859	0.01360	0.5189848858214613	0.51821	.	.	0.331813335419	0.15209	T	0.048907	0.28153	T	-0.178768	0.23919	T	-0.494564	0.22913	T	0.522767543792725	0.33467	D	0.875013	0.58582	D	0.073942356	0.16559	0.08341372	0.19112	0.073942356	0.16558	0.08341372	0.19112	-5.303	0.42710	T	.	.	0.100	0.40634	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.368696	0.30389	18.42	0.9983359700363208	0.91456	0.29454	0.23826	N	AEFI	0.227021	0.35088	N	-0.45177953563243	0.23679	1.273314	-0.571889155194518	0.20227	1.088813	6.46744833921946E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.43	1.48	0.21900	1.534000	0.35656	3.330000	0.37619	0.337000	0.19705	0.030000	0.20431	0.977000	0.30130	0.731000	0.35132	0.1124:0.1835:0.7041:0.0	6.591	0.21843	773	0.48803	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	476.63	36	chr7	143720089	.	G	A	476.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.926;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=38.33;MQRankSum=0.691;QD=7.69;ReadPosRankSum=0;SOR=0.659	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1267	6	0	1	0
chr7	144050837	144050837	G	T	exonic	OR2A5	.	nonsynonymous SNV	OR2A5:NM_012365:exon2:c.G436T:p.V146F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00571397883251	.	.	.	.	.	.	.	.	.	.	.	.	.	rs528465845	6.84e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.19090	T	0.168	0.30631	T	0.014	0.16867	B	0.033	0.22329	B	0.152838	0.17910	U	0.298852	1	0.08975	N	0.775	0.19437	N	1.12	0.38718	T	-2.44	0.53420	N	0.299	0.33796	-1.0242	0.22344	T	0.079	0.31466	T	10	0.06884843	0.09794	T	0.005714	0.14802	T	0.060	0.17295	0.248	0.18447	0.258283824007	0.25425	0.26981532739821945	0.26894	0.207598512814	0.23217	0.32103061676	0.13578	T	0.015215	0.12804	T	-0.160943	0.26615	T	-0.46896	0.25627	T	0.05297776684165	0.06016	T	.	.	.	0.14953256	0.34085	0.14988676	0.35372	0.14953256	0.34085	0.14988676	0.35371	-5.151	0.38439	T	.	.	0.105	0.19518	B	.;.	.;.	0.735968	0.11051	7.706	0.95283291249545587	0.26580	0.13705	0.18006	N	AEFBI	0.118028	0.23096	N	-0.859434946008969	0.11819	0.5724668	-0.896046975952087	0.12187	0.6254433	1.25488238835499E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.25	0.841	0.18052	-0.677000	0.05315	-2.518000	0.03657	0.661000	0.55757	0.000000	0.06391	0.000000	0.08366	0.075000	0.16954	0.4607:0.0:0.5393:0.0	7.388	0.26069	906	0.23090	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2489.44	91	chr7	144050837	.	G	T	2489.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.36;DP=789;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=0.4;SOR=0.712	GT:AD:DP:GQ:PL	0/0:186,0:186:99:0,120,1800	6	0	1	0
chr7	144185486	144185486	G	A	exonic	CTAGE4;CTAGE8	.	nonsynonymous SNV	CTAGE8:NM_001278507:exon1:c.G1983A:p.M661I,CTAGE4:NM_198495:exon1:c.G1983A:p.M661I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00144250319632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.684e-07	7.041e-07	0	1.537e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.835e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.28271	T	0.47	0.12246	T	0.065	0.23521	B	0.049	0.25116	B	.	.	.	.	1	0.08975	N	1.85	0.49092	L	1.16	0.38073	T	-1.17	0.29933	N	0.269	0.30461	-0.9779	0.35481	T	0.098	0.36754	T	7	0.06580171	0.08932	T	0.001443	0.02164	T	0.053	0.14996	0.196	0.10839	0.0551355673512	0.04727	0.07471606949998723	0.07407	.	.	0.50909268856	0.40094	T	0.014013	0.12011	T	-0.304172	0.08272	T	-0.674699	0.07310	T	0.0479581447669193	0.05137	T	0.709329	0.31993	T	0.21648724	0.44108	0.17078266	0.39213	0.21648724	0.44108	0.17078266	0.39212	-3.979	0.23488	T	.	.	0.326	0.54940	B	.	.	1.251181	0.16477	12.57	0.65242145242364202	0.07717	0.00106	0.00678	N	AEFI	0.022955	0.01214	N	-0.936406157727976	0.09999	0.4758299	-1.12110308538984	0.07298	0.3544369	7.78365322721045E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	.	.	.	-0.020000	0.12466	1.868000	0.29368	0.254000	0.18348	0.391000	0.26096	0.990000	0.31317	0.395000	0.26670	.	.	.	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	74.22	39	chr7	144185486	.	G	A	74.22	.	AC=2;AF=0.143;AN=14;DP=293;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=23;QD=28.44;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:85,0:85:99:.:.:0,120,1800:.	6	1	0	0
chr7	144232482	144232482	C	T	exonic	OR2A42	.	nonsynonymous SNV	OR2A42:NM_001001802:exon1:c.G362A:p.R121H	.	577	943	1	1	0	3	0.00158814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	.	.	0.00259585	0.0038	0.0224	0.0002	0.0252	0	9.571e-05	0	0	0.0004995	13	26028	rs535979486	0.0009	0.0008	0.0011	0.0007	0.0106	0.0008	0.0008	0.0092	0.0086	0.0106	0.0002	0	0.0084	0	0	3.375e-05	0.0013	3.365e-05	0.0026	0.0040	0.0026	0.0026	0.0110	0.0024	0.0023	0.0096	0.0091	0.0109	0	0.0002	0	0.0110	0	0	2.263e-05	0	0	0.011	0.55530	D	0.0	0.92824	D	.	.	.	.	.	.	0.011578	0.29481	U	0.000000	1	0.81001	D	.	.	.	-1.1	0.77336	T	-4.79	0.80595	D	0.247	0.27910	-0.6822	0.61271	T	0.252	0.62154	T	9	0.011543274	0.00252	T	.	.	.	0.227	0.52620	.	.	0.68108255196	0.67837	0.5858967586097127	0.58519	.	.	0.184524297714	0.00143	T	.	.	.	-0.233193	0.16228	T	-0.288028	0.45978	T	0.0711297851734721	0.08808	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.780226	0.36519	20.3	0.97440708358712202	0.33977	0.35037	0.25208	N	AEFGI	.	.	.	-0.728709992920463	0.15217	0.7650199	-0.903627363936074	0.12008	0.6152374	7.11836943927018E-5	0.04552	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	2.77	0.767	0.17627	3.359000	0.52012	-0.588000	0.08339	0.407000	0.20612	0.067000	0.21986	0.000000	0.08366	0.117000	0.19042	0.2009:0.6036:0.1955:0.0	6.711	0.22466	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	2015.2	39	chr7	144232482	.	C	T	2015.2	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.059;DP=285;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=38.36;MQRankSum=0.251;QD=14.82;ReadPosRankSum=-1.021;SOR=0.666	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1386	4	0	1	2
chr7	147132381	147132381	A	G	exonic	CNTNAP2	.	unknown	UNKNOWN	Cortical dysplasia-focal epilepsy syndrome;Pitt-Hopkins like syndrome 1	0	1515	7	0	0	7	0.00230491	.	.	.	101453	CNTNAP2-related_disorder|not_provided|not_specified|Cortical_dysplasia-focal_epilepsy_syndrome|Inborn_genetic_diseases	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012400,MedGen:C2750246,OMIM:610042,Orphanet:163681,Orphanet:221150|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.118	0.00459544755955	0.0025	0.00139776	0.0009	0.0051	0.0008	0	0	0.0007	0	0.0001	0.0008538	132	154602	rs143877693	0.0006	0.0006	0.0007	0.0006	0.0070	0.0006	0.0006	0.0062	0.0059	0.0070	0.0007	0.0061	0.0006	3.744e-05	0	0.0004	0.0013	8.115e-05	0.0023	0.0023	0.0022	0.0024	0.0067	0.0021	0.0020	0.0061	0.0058	0.0067	0	0.0009	0.0063	0.0004	0	0	0.0003	0.0038	0.0004	0.548	0.06627	T	0.829	0.03728	T	0.003	0.11197	B	0.01	0.14941	B	0.032297	0.25050	N	0.348822	0.999996	0.08975	N	-0.95	0.01262	N	-1.29	0.79475	T	0.68	0.02228	N	0.24	0.27077	-0.9934	0.31722	T	0.144	0.46641	T	10	0.01616469	0.00340	T	0.004595	0.11346	T	0.118	0.32913	.	.	0.531972677126	0.52846	0.20501470567457233	0.20418	0.0774002172583	0.08706	0.233605995774	0.02245	T	0.124938	0.45031	T	-0.563756	0.00241	T	-0.579126	0.14622	T	0.000987796670502398	0.00009	T	0.718228	0.33111	T	0.03791757	0.04951	0.038157433	0.03622	0.040359326	0.05745	0.038902674	0.03862	-2.503	0.05801	T	.	.	0.056	0.00444	B	.;.	.;.	0.938628	0.13140	9.643	0.87274821820128745	0.17111	0.65813	0.32864	D	AEFI	0.099806	0.20082	N	-0.959996700708199	0.09469	0.4483113	-0.808265260525275	0.14296	0.746213	1.24215161231998E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.7	0.689	0.17197	2.033000	0.40757	2.744000	0.34485	-0.113000	0.14837	0.954000	0.33273	0.952000	0.29052	0.981000	0.58702	0.6014:0.0:0.3986:0.0	9.007	0.35279	944	0.12746	Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1235.44	87	chr7	147132381	.	A	G	1235.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.949;DP=284;ExcessHet=0;FS=1.763;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.585;SOR=0.515	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,111,1665	6	0	1	0
chr7	149003806	149003806	C	A	exonic	PDIA4	.	nonsynonymous SNV	PDIA4:NM_001371244:exon10:c.G1929T:p.K643N,PDIA4:NM_001371245:exon10:c.G1857T:p.K619N,PDIA4:NM_004911:exon10:c.G1926T:p.K642N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.00531650671912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.004	0.74150	D	0.041	0.21357	B	0.025	0.20508	B	0.000126	0.49741	D	0.232325	1	0.81001	D	2.83	0.82355	M	2.15	0.19311	T	-3.69	0.70432	D	0.17	0.18103	-1.0642	0.10736	T	0.053	0.22539	T	10	0.1689893	0.31482	T	0.005317	0.13618	T	0.100	0.28662	0.282	0.23801	0.228597637076	0.22478	.	.	0.385980496119	0.39890	0.312920302153	0.12349	T	0.141479	0.47656	T	-0.226405	0.17128	T	-0.562991	0.16097	T	0.978172183036804	0.72198	D	0.854615	0.54143	D	0.48495814	0.66200	0.33914483	0.59683	0.48495814	0.66201	0.33914483	0.59682	-7.904	0.60414	D	.	.	.	.	.	.	.	3.736108	0.53476	23.4	0.99801453360646142	0.88639	0.88089	0.47866	D	AEFBCI	0.728614	0.67658	D	0.105222123968088	0.46706	2.906912	0.256736876526572	0.53034	3.474422	0.996148126254849	0.34553	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	4.81	0.61401	2.552000	0.45490	2.067000	0.30424	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.997000	0.79791	0.0:0.8077:0.0:0.1923	6.982	0.23887	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr7	149003806	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1318	6	1	0	0
chr7	149103946	149103946	A	G	exonic	ZNF425	.	nonsynonymous SNV	ZNF425:NM_001001661:exon4:c.T1925C:p.M642T	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000924084559709	0.0023	0.00199681	0.0021	0.0004	0.0012	0.0017	0.0018	0.0029	0	0.0009	0.0019922	308	154602	rs146409684	0.0027	0.0027	0.0027	0.0026	0.0031	0.0026	0.0026	0.0030	0.0030	0.0006	0.0009	7.652e-05	0.0010	0.0018	0.0016	0.0031	0.0021	0.0008	0.0015	0.0015	0.0015	0.0015	0.0025	0.0014	0.0013	0.0022	0.0020	0.0004	0	0.0015	0.0003	0.0018	0.0009	0	0.0025	0.0014	0.0008	0.267	0.16198	T	0.014	0.62352	D	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-0.21	0.04010	N	3.19	0.07353	T	0.51	0.02898	N	0.055	0.02658	-0.9528	0.40485	T	0.006	0.02018	T	9	0.008421868	0.00191	T	9.24E-4	0.00889	T	0.034	0.08419	.	.	0.0884992946249	0.08302	0.05061455582368372	0.05004	0.347455977516	0.36640	0.358933269978	0.19231	T	0.006529	0.05961	T	-0.614162	0.00120	T	-0.659281	0.08315	T	0.00193277582951496	0.00020	T	0.591241	0.21771	T	0.022276022	0.00879	0.04274664	0.05162	0.022276022	0.00879	0.04274664	0.05161	-2.824	0.08406	T	.	.	0.189	0.40746	B	.	.	0.086559	0.04912	1.491	0.29671929736424724	0.01585	0.02730	0.07398	N	AEFDGBI	0.056194	0.10368	N	-1.43821382122621	0.02311	0.1018953	-1.49151858782703	0.02413	0.1109514	0.0115823731583399	0.12207	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	3.34	-3.45	0.04479	0.009000	0.13117	-0.684000	0.07871	-0.065000	0.16512	0.000000	0.06391	0.000000	0.08366	0.112000	0.18829	0.1857:0.1085:0.2931:0.4127	1.181	0.01733	958	0.09170	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	1390.44	111	chr7	149103946	.	A	G	1390.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.699;DP=295;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=1.07;SOR=0.646	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1233	6	0	1	0
chr7	149492949	149492949	C	G	exonic	ZNF746	.	nonsynonymous SNV	ZNF746:NM_001163474:exon4:c.G430C:p.V144L,ZNF746:NM_001363517:exon4:c.G475C:p.V159L,ZNF746:NM_152557:exon4:c.G430C:p.V144L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0174811493365	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1326535280	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554	0.07048	T	0.434	0.16425	T	0.767	0.43786	P	0.159	0.34693	B	0.018684	0.27426	N	0.172533	0.588338	0.31041	N	-0.225	0.03956	N	5.75	0.00703	T	-1.16	0.29727	N	0.28	0.31702	-0.7654	0.57110	T	0.002	0.00497	T	10	0.10142642	0.18532	T	0.017481	0.39195	T	0.097	0.27909	0.295	0.25881	0.149567049428	0.14543	0.15880526966811503	0.15801	1.51457288981	0.87293	0.611844420433	0.54577	T	0.01449	0.12330	T	-0.247355	0.14425	T	-0.593085	0.13400	T	0.708111763000488	0.41107	D	0.830517	0.52677	T	0.0558473	0.10909	0.06274609	0.12322	0.0558473	0.10909	0.06274609	0.12322	-3.084	0.11113	T	.	.	0.513	0.74832	A	.;.;.;.	.;.;.;.	2.870189	0.37953	20.6	0.98308502174484425	0.40116	0.40004	0.26340	N	AEFBCI	0.116459	0.22856	N	-0.314690456951131	0.28589	1.578164	-0.179242668996369	0.32300	1.836319	0.139669458211926	0.17249	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.33	4.44	0.53164	-0.470000	0.06717	3.969000	0.40810	0.596000	0.33519	0.003000	0.16062	1.000000	0.68203	0.999000	0.91618	0.0:0.8153:0.0:0.1847	7.199	0.25047	946	0.12043	Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box;.;Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1060.83	34	chr7	149492949	.	C	G	1060.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.63;DP=265;ExcessHet=0;FS=0.782;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.413;SOR=0.8	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1252	6	0	1	0
chr7	149861724	149861724	C	G	exonic	ZNF862	.	nonsynonymous SNV	ZNF862:NM_001099220:exon7:c.C2564G:p.S855C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.00268261436776	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.0	0.92824	D	0.995	0.67487	D	0.753	0.56122	P	0.002121	0.37183	N	0.123266	0.532	0.31484	N	1.895	0.50365	L	1.94	0.22678	T	-2.96	0.61722	D	0.572	0.59478	-1.0153	0.25240	T	0.071	0.28773	T	10	0.7075455	0.72834	D	0.002683	0.05492	T	0.136	0.36778	0.499	0.58991	0.421674004627	0.41782	0.6816089046593552	0.68099	0.630607113728	0.57042	0.53025406599	0.43070	T	0.211413	0.57217	T	-0.00564771	0.50874	T	-0.245889	0.50223	T	0.963822185993195	0.66773	D	0.775222	0.40690	T	0.1537277	0.34831	0.11400496	0.27517	0.1537277	0.34830	0.11400496	0.27517	-8.247	0.62741	D	0.4725953070738971	0.55276	0.145	0.32030	B	.	.	4.049064	0.59999	24.2	0.98644105005354787	0.44096	0.85920	0.45111	D	AEFDBHCI	0.238877	0.36093	N	0.499986195555809	0.67089	5.035472	0.536212808132557	0.70444	5.50616	0.999999999999063	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.505578	0.09266	0	0.638833	0.57524	0	.	.	5.38	5.38	0.77279	3.860000	0.55706	5.133000	0.47665	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	14.665	0.68506	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1250.44	47	chr7	149861724	.	C	G	1250.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.788;DP=394;ExcessHet=0;FS=1.722;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=0.383;SOR=0.507	GT:AD:DP:GQ:PL	0/0:92,0:92:99:0,120,1800	6	0	1	0
chr7	150948535	150948535	C	T	exonic	KCNH2	.	nonsynonymous SNV	KCNH2:NM_172057:exon7:c.G1581A:p.M527I,KCNH2:NM_000238:exon11:c.G2601A:p.M867I	Long QT syndrome 2, Autosomal dominant;Short QT syndrome 1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.687	0.624160017239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	0.19569	T	0.221	0.25827	T	0.444	0.35956	B	0.503	0.47728	P	0.000018	0.62929	D	0.148191	0.999455	0.50806	D	1.735	0.44892	L	-4.69	0.98487	D	-1.55	0.40274	N	0.561	0.60664	0.988	0.96994	D	0.922	0.97415	D	10	0.599457	0.66829	D	0.62416	0.96754	D	0.687	0.88585	0.316	0.29258	0.883126300403	0.88198	0.8656110223139508	0.86526	0.194290606841	0.21767	0.641322016716	0.58751	T	0.454256	0.79388	T	0.268008	0.80261	D	0.147199	0.80007	D	0.76245504617691	0.43993	D	0.851615	0.53551	D	0.32384765	0.54962	0.28557035	0.54561	0.32384765	0.54962	0.28557035	0.54560	-10.752	0.80797	D	0.18946790983123976	0.24786	0.769	0.78847	P	.;.	.;.	4.801959	0.78026	26.8	0.98661986276574531	0.44345	0.92958	0.56968	D	AEFDBCI	0.886204	0.81740	D	0.0848995445765167	0.45759	2.827105	0.164158983946246	0.47896	3.013154	0.999999999999898	0.74766	0.72623	0.87236	0	0.657636	0.61667	0	0.594344	0.31042	0	0.63947	0.58350	0	.	.	4.11	4.11	0.47350	3.437000	0.52627	7.567000	0.60617	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	14.225	0.65400	749	0.51929	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	905.44	97	chr7	150948535	.	C	T	905.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.631;DP=335;ExcessHet=0;FS=0.763;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.33;ReadPosRankSum=-0.796;SOR=0.797	GT:AD:DP:GQ:PL	0/0:78,0:78:99:0,120,1800	6	0	1	0
chr7	150948907	150948907	C	A	exonic	KCNH2	.	nonsynonymous SNV	KCNH2:NM_172057:exon6:c.G1521T:p.E507D,KCNH2:NM_000238:exon10:c.G2541T:p.E847D	Long QT syndrome 2, Autosomal dominant;Short QT syndrome 1	.	.	.	.	.	.	.	.	.	YES	1323325	Cardiac_arrhythmia|Long_QT_syndrome	EFO:EFO_0004269,Human_Phenotype_Ontology:HP:0001656,Human_Phenotype_Ontology:HP:0001661,Human_Phenotype_Ontology:HP:0001665,Human_Phenotype_Ontology:HP:0001666,Human_Phenotype_Ontology:HP:0001687,Human_Phenotype_Ontology:HP:0001721,Human_Phenotype_Ontology:HP:0004351,Human_Phenotype_Ontology:HP:0005158,Human_Phenotype_Ontology:HP:0011675,MONDO:MONDO:0007263,MedGen:C0003811|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.662	0.280158863132	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866263680	2.052e-06	2.052e-06	0	4.125e-06	0.0003	5.5e-07	1.5e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.29959	T	0.236	0.27679	T	0.022	0.29618	B	0.099	0.39460	B	0.000000	0.84330	D	0.000000	0.850017	0.38722	D	1.115	0.28702	L	-3.19	0.93170	D	-1.74	0.43334	N	0.328	0.46928	0.593	0.91805	D	0.814	0.93740	D	10	0.33980975	0.51061	T	0.280159	0.90202	D	0.662	0.87381	0.516	0.61611	0.937283396386	0.93663	0.9101359853848562	0.90987	2.09264733632	0.94735	0.718738436699	0.69863	T	0.585231	0.86479	D	0.196367	0.73552	D	0.0442909	0.73208	D	0.952089548110962	0.63709	D	0.886911	0.61435	D	0.19616544	0.41433	0.17480655	0.39902	0.19616544	0.41433	0.17480655	0.39901	-8.24	0.62694	D	0.22022279628649946	0.29683	0.484	0.63867	A	.;.	.;.	3.798210	0.54714	23.5	0.99548750117554929	0.71023	0.59150	0.30836	D	AEFDGBHCI	0.609848	0.59889	D	0.0130443616823067	0.42447	2.557765	0.0415314727195715	0.41664	2.506943	0.999999972124098	0.74766	0.609539	0.35627	0	0.541168	0.11318	0	0.493711	0.08198	1	0.63947	0.58350	0	.	.	3.95	3.95	0.44952	-0.536000	0.06223	1.432000	0.26455	0.599000	0.40250	0.074000	0.22182	1.000000	0.68203	0.843000	0.39806	0.0:0.8853:0.0:0.1147	7.651	0.27513	749	0.51929	Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain;Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	95.44	37	chr7	150948907	.	C	A	95.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.15;DP=223;ExcessHet=0;FS=6.021;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=23.86;ReadPosRankSum=-1.15;SOR=2.788	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	6	0	1	0
chr7	150950076	150950078	CCA	-	exonic	KCNH2	.	nonframeshift deletion	KCNH2:NM_001204798:exon5:c.1468_1470del:p.W490del,KCNH2:NM_172056:exon9:c.2488_2490del:p.W830del	Long QT syndrome 2, Autosomal dominant;Short QT syndrome 1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	61.4	35	chr7	150950075	.	TCCA	T	61.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-0.431;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1036	6	0	1	0
chr7	151064613	151064613	C	T	exonic	SLC4A2	.	nonsynonymous SNV	SLC4A2:NM_001199693:exon3:c.C278T:p.P93L,SLC4A2:NM_001199694:exon3:c.C263T:p.P88L,SLC4A2:NM_001199692:exon4:c.C305T:p.P102L,SLC4A2:NM_003040:exon4:c.C305T:p.P102L	.	409	1093	20	0	0	20	0.00906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0715997310659	0.0006	0.000399361	0.0010	9.837e-05	0.0020	0	0	0.0012	0.0034	0.0008	0.0009767	151	154602	rs146857685	0.0008	0.0008	0.0008	0.0008	0.0256	0.0008	0.0007	0.0221	0.0208	0.0005	0.0021	0.0029	0	1.874e-05	0.0256	0.0006	0.0017	0.0008	0.0010	0.0010	0.0010	0.0010	0.0031	0.0009	0.0008	0.0024	0.0021	0.0002	0	0.0031	0.0026	0	0	0.0102	0.0011	0.0038	0.0004	0.024	0.48642	D	0.221	0.25827	T	0.002	0.12183	B	0.004	0.14300	B	0.050366	0.23077	N	0.478491	0.920733	0.28346	N	1.1	0.28011	L	0.97	0.74053	T	-2.49	0.54217	N	0.241	0.27197	-0.7624	0.57275	T	0.245	0.61436	T	10	0.008913398	0.00202	T	0.072	0.71312	D	0.057	0.16321	.	.	0.464188422262	0.46044	0.20815250473220942	0.20731	0.514846979107	0.49409	0.524394869804	0.42245	T	0.023173	0.32031	T	-0.403854	0.02184	T	-0.366115	0.37344	T	0.00974501270101722	0.00128	T	0.80202	0.44827	T	0.044927947	0.07265	0.035186734	0.02724	0.044927947	0.07265	0.035186734	0.02724	-4.828	0.34916	T	.	.	0.079	0.14201	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.152937	0.27425	17.46	0.98031118972330555	0.37712	0.55553	0.29893	D	AEFBHCI	0.258834	0.37730	N	-0.493822471254174	0.22282	1.188729	-0.42324928924823	0.24317	1.330918	0.999998137556417	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.76	2.91	0.32903	0.580000	0.23505	2.161000	0.30982	0.599000	0.40250	0.000000	0.06391	0.076000	0.22303	0.802000	0.37819	0.191:0.7103:0.0:0.0987	5.739	0.17353	878	0.29785	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020141	0.000000	0.025815	0.049708	0.000000	0.025862	0.015244	0.003788	0.08333	404.27	19	chr7	151064613	.	C	T	404.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.89;DP=203;ExcessHet=0;FS=1.234;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=-1.141;SOR=0.916	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	1
chr7	151181133	151181133	G	A	exonic	ASB10	.	nonsynonymous SNV	ASB10:NM_001142459:exon3:c.C910T:p.R304C,ASB10:NM_001142460:exon3:c.C910T:p.R304C,ASB10:NM_080871:exon3:c.C865T:p.R289C	Glaucoma 1, open angle, F	94	1420	8	0	0	8	0.00280899	.	.	.	105855	not_provided|Glaucoma_1,_open_angle,_F	MedGen:C3661900|MedGen:C1863926,OMIM:603383	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.225	0.0743076722227	0.0026	0.000998403	0.0028	0.0008	0.0013	0	0.0095	0.0037	0.0036	0.0003	0.0026002	402	154602	rs61735130	0.0029	0.0029	0.0029	0.0029	0.0038	0.0028	0.0028	0.0028	0.0028	0.0005	0.0017	0.0096	7.566e-05	0.0082	0.0038	0.0029	0.0030	0.0004	0.0026	0.0026	0.0025	0.0028	0.0032	0.0024	0.0023	0.0029	0.0027	0.0008	0	0.0019	0.0092	0.0002	0.0077	0.0068	0.0032	0.0019	0.0002	0.014	0.53172	D	0.027	0.55341	D	0.998	0.77913	D	0.799	0.65394	P	0.001396	0.39175	N	0.249276	0.978436	0.39461	D	0.755	0.19153	N	0.58	0.54149	T	-1.92	0.56301	N	0.469	0.52029	-0.7228	0.59324	T	0.218	0.58111	T	10	0.008752853	0.00198	T	0.074308	0.72010	D	0.225	0.52323	.	.	0.625091758369	0.62203	0.3120071742682823	0.31113	0.312190301889	0.33520	0.468261152506	0.34441	T	0.023268	0.17791	T	-0.3989	0.02354	T	-0.34882	0.39339	T	0.0234555827471462	0.01078	T	0.956004	0.83260	D	0.10019859	0.23656	0.09163117	0.21553	0.11078033	0.26183	0.099070214	0.23641	-7.875	0.60215	D	.	.	0.135	0.29228	B	.;.;.	.;.;.	5.096163	0.85121	28.5	0.99939545891364567	0.99734	0.82666	0.41862	D	AEFDBCI	0.638787	0.61708	D	0.500516202767928	0.67121	5.039544	0.521639941066314	0.69448	5.361893	0.999999624516096	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	1.521000	0.35516	9.578000	0.81023	0.618000	0.50648	0.985000	0.35982	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.7291:0.2709	12.055	0.52827	906	0.23090	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002016	0.000000	0.002725	0.000000	0.000000	0.008621	0.006135	0.000000	0.07143	772.44	45	chr7	151181133	.	G	A	772.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.701;DP=323;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.17;ReadPosRankSum=-3.525;SOR=0.869	GT:AD:DP:GQ:PL	0/0:92,0:92:99:0,120,1800	6	0	1	0
chr7	151196492	151196492	G	A	exonic	IQCA1L	.	nonsynonymous SNV	IQCA1L:NM_001304419:exon10:c.C1270T:p.R424W	.	1044	473	4	1	0	6	0.00630252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs752523494	0.0001	7.475e-05	0.0001	0.0002	0.0023	0.0001	8.815e-05	0.0006	0.0003	0	0.0008	0	8.732e-05	0	0.0023	0.0001	0.0002	0.0013	5.913e-05	5.906e-05	5.142e-05	6.719e-05	0.0002	3.077e-05	2.21e-05	2.847e-05	1.859e-05	4.817e-05	0	6.538e-05	0	0	0	0	7.353e-05	0	0.0002	.	.	.	0.058	0.46182	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.14338	.	.	.	.	.	.	.	0.12749612	0.24246	T	.	.	.	.	.	.	.	0.463328977263	0.45958	0.260867184624651	0.25999	.	.	.	.	.	0.125508	0.45127	T	-0.188781	0.22438	T	-0.508948	0.21424	T	.	.	.	0.768023	0.39669	T	0.20056756	0.42036	0.13986216	0.33357	0.20056756	0.42036	0.13986216	0.33356	-7.869	0.60174	D	.	.	0.09	0.12607	B	.	.	3.006553	0.40193	21.1	0.70118142836551822	0.09191	0.20020	0.20884	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.325613444905116	0.19430	0.095506	0.02484	0	0.166317	0.03975	0	0.048193	0.00230	0	0.075334	0.01956	0	0.271709	0.33732	4.0	0.99	0.18926	0.056000	0.14136	0.494000	0.18929	0.676000	0.76740	0.000000	0.06391	0.014000	0.20376	0.292000	0.24309	0.1031:0.0:0.3646:0.5323	5.228	0.14724	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2540.44	33	chr7	151196492	.	G	A	2540.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.4;DP=344;ExcessHet=0;FS=2.799;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=-1.156;SOR=0.497	GT:AD:DP:GQ:PL	0/1:67,97:164:99:2551,0,1382	6	0	1	0
chr7	151235592	151235592	G	A	exonic	CHPF2	.	nonsynonymous SNV	CHPF2:NM_019015:exon2:c.G808A:p.G270S,CHPF2:NM_001284295:exon3:c.G784A:p.G262S	.	424	1089	9	0	0	9	0.00411523	.	.	.	2193989	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.076	0.00414915425767	7.7e-05	0.000399361	0.0002	0	0.0007	0	0	0.0003	0	6.495e-05	0.0002652	41	154602	rs199940789	0.0003	0.0003	0.0003	0.0003	0.0047	0.0003	0.0002	0.0033	0.0028	0.0002	0.0013	3.833e-05	0	0	0.0047	0.0002	0.0005	5.801e-05	0.0004	0.0004	0.0004	0.0004	0.0014	0.0003	0.0003	0.0009	0.0008	0.0002	0	0.0014	0	0	0	0	0.0004	0.0009	0	0.385	0.12345	T	0.868	0.03333	T	0.128	0.29559	B	0.024	0.23607	B	0.000002	0.62929	D	0.133823	0.992651	0.41705	D	0	0.06538	N	2.4	0.15608	T	0.91	0.01664	N	0.185	0.20129	-1.0363	0.18450	T	0.018	0.07612	T	10	0.050321728	0.04748	T	0.004149	0.09963	T	0.076	0.22200	.	.	0.439870908748	0.43606	0.5032015314051332	0.50242	0.148960912717	0.16796	0.483740001917	0.36571	T	0.024153	0.18307	T	-0.539205	0.00339	T	-0.58784	0.13854	T	0.0391228851729626	0.03532	T	0.864713	0.56210	D	0.068375036	0.14889	0.113772534	0.27459	0.068375036	0.14889	0.113772534	0.27458	-3.003	0.10213	T	.	.	0.068	0.03301	B	.;.	.;.	2.667021	0.34762	19.72	0.99237439195119026	0.56437	0.82965	0.42126	D	AEFDBCI	0.307132	0.41409	N	-0.276482821968904	0.30060	1.672587	-0.0127666393771082	0.39137	2.31601	0.999999989741376	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.85	5.85	0.93663	2.588000	0.45802	8.527000	0.77443	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.975000	0.56047	0.0726:0.0:0.9274:0.0	14.341	0.66184	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.000000	0.009511	0.026316	0.000000	0.008621	0.000000	0.000000	0.07143	1136.63	38	chr7	151235592	.	G	A	1136.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.02;DP=252;ExcessHet=0;FS=2.035;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.79;ReadPosRankSum=1.13;SOR=0.473	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H	.	526	320	669	7	0	683	0.516251	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.454123	0.322785	0.464481	0.464912	0.428571	0.473214	0.474638	0.463115	0.4286	4870.49	184	chr7	152229940	.	A	G	4870.49	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.631;DP=1690;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=44.63;MQRankSum=0.809;QD=2.95;ReadPosRankSum=0.174;SOR=0.69	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:295,56:351:99:.:.:552,0,10000:.	1	0	6	0
chr7	152235831	152235831	C	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon16:c.G2755C:p.V919L	.	523	804	188	7	0	202	0.111602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	.	.	.	0.3064	0.3892	0.3854	0.3769	0.3614	0.2662	0.3017	0.2987	0.0009221	24	26028	rs111791757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.08609	T	.	.	.	0.005	0.12996	B	0.006	0.12133	B	0.000997	0.40743	D	0.000000	0.909796	0.27531	N	1.04	0.26193	L	-1.76	0.83578	D	-0.87	0.23590	N	0.351	0.39254	-0.7817	0.56206	T	0.290	0.66182	T	10	0.001721412	0.00022	T	.	.	.	0.190	0.46781	.	.	.	.	0.3939079229526045	0.39305	1.16460324479	0.79582	0.551522254944	0.46072	T	0.082871	0.36927	T	-0.0536841	0.43886	T	-0.31489	0.43132	T	0.00291439180401243	0.00030	T	0.782522	0.41827	T	0.11401484	0.26920	0.058207095	0.10716	0.11401484	0.26920	0.058207095	0.10716	-2.714	0.07421	T	0.21301624123496365	0.28594	0.155	0.34361	B	.;.	.;.	2.476867	0.31934	18.89	0.93460886301440382	0.23247	0.88481	0.48429	D	AEFBI	0.274499	0.38967	N	-0.471234561374049	0.23027	1.233672	-0.289425091573026	0.28446	1.586133	2.17144164743047E-4	0.05997	0.736574	0.97449	0	0.732669	0.95671	0	0.601832	0.32385	0	0.756605	0.99741	0	.	.	5.0	3.05	0.34272	0.914000	0.28246	0.910000	0.22619	0.549000	0.26987	0.989000	0.36753	0.340000	0.24418	0.997000	0.79791	0.0:0.6447:0.2767:0.0786	9.075	0.35674	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.351197	0.253086	0.383562	0.346491	0.125000	0.394737	0.307692	0.388000	0.2143	199.27	46	chr7	152235831	.	C	G	199.27	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.021;DP=450;ExcessHet=1.1394;FS=5.166;MLEAC=2;MLEAF=0.143;MQ=50.69;MQRankSum=-2.132;QD=0.97;ReadPosRankSum=-2.276;SOR=1.27	GT:AD:DP:GQ:PL	0/0:117,0:117:99:0,116,1800	4	0	3	0
chr7	152265209	152265209	G	A	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon8:c.C1013T:p.S338L	.	421	1031	70	0	0	70	0.032833	0.0269	0.306	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	.	.	.	0.0013	0.0050	0.0003	0.0002	0.0002	0.0009	0	0.0024	3.84e-05	1	26028	rs763762478	2.038e-05	0.0079	2.235e-05	1.838e-05	9.681e-05	1.43e-05	1.236e-05	3.144e-05	2.135e-05	9.681e-05	6.956e-05	7.854e-05	0	1.934e-05	0	1.103e-05	3.412e-05	7.373e-05	2.013e-05	0.0049	1.309e-05	2.752e-05	0.0002	5.35e-06	2.48e-06	.	.	2.503e-05	0	0	0	0	0	0	1.49e-05	0	0.0002	0.165	0.23271	T	.	.	.	0.999	0.77913	D	0.978	0.74104	D	0.002566	0.36316	U	0.000000	0.999109	0.46078	D	1.375	0.34280	L	-5.19	0.98838	D	-2.15	0.49846	N	0.541	0.64733	0.975	0.96781	D	0.935	0.97856	D	10	0.120939314	0.22917	T	0.135747	0.81821	D	0.505	0.78662	.	.	0.780251043478	0.77822	0.8104037300995125	0.80995	2.68827321764	0.98538	0.709780871868	0.68562	T	0.093356	0.39194	T	0.194455	0.73376	D	0.0415453	0.73029	D	0.563259899616241	0.34978	D	0.915408	0.69775	D	0.1218603	0.28647	0.12725215	0.30636	0.1218603	0.28646	0.12725215	0.30635	-8.009	0.61132	D	.	.	0.295	0.52574	B	.;.	.;.	5.197887	0.87191	29.2	0.99103779157527894	0.52546	0.99285	0.93953	D	AEFDGI	0.879208	0.80500	D	0.330948350371497	0.57744	3.942901	0.306496970797665	0.55922	3.754958	0.999408517909567	0.39524	0.706548	0.73137	0	0.724815	0.89359	0	0.601832	0.32385	0	0.74596	0.99574	0	.	.	4.65	4.65	0.57626	7.653000	0.82698	11.796000	0.96513	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	17.916	0.88868	952	0.10565	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004232	0.016393	0.002755	0.000000	0.000000	0.000000	0.011278	0.000000	0.07143	291.46	122	chr7	152265209	.	G	A	291.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.09;DP=917;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=45.66;MQRankSum=-3.418;QD=1.24;ReadPosRankSum=-3.144;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:164,0:164:99:.:.:0,120,1800:.	6	0	1	0
chr7	152265211	152265211	T	C	splicing	KMT2C	NM_170606:exon8:c.1013-2A>G	.	.	.	421	1032	69	0	0	69	0.0323488	1.0000	0.856	YES	1292103	Kleefstra_syndrome_2|not_provided	MONDO:MONDO:0054701,MedGen:C4540395,OMIM:617768|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0042	0.0003	0.0002	0.0002	0.0008	0	0.0023	3.84e-05	1	26028	rs751158858	1.754e-05	0.0078	1.674e-05	1.836e-05	7.365e-05	1.204e-05	1.018e-05	3.141e-05	2.134e-05	6.35e-05	4.622e-05	7.843e-05	0	0	0	1.011e-05	3.405e-05	7.365e-05	2.673e-05	0.0048	1.305e-05	4.11e-05	0.0004	8.25e-06	5.21e-06	7.479e-05	3.099e-05	2.48e-05	0	0	0	0	0	0	1.488e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101255	0.64428	D	-0.0923307	0.63986	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	6.617057	0.95490	35	0.97620013067163336	0.34960	0.96606	0.69985	D	AEDGI	.	.	.	0.831717572276499	0.88043	9.432911	0.606287934712574	0.75395	6.30307	0.999997611856489	0.74766	0.099367	0.02607	0	0.104858	0.03167	0	0.066767	0.01867	0	0.074238	0.01845	1	0.850816	0.51753	4.65	4.65	0.57626	7.580000	0.81812	7.866000	0.71703	0.603000	0.45986	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:0.0:1.0	14.395	0.66573	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	291.46	122	chr7	152265211	.	T	C	291.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.06;DP=901;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=45.52;MQRankSum=-3.418;QD=1.24;ReadPosRankSum=-3.051;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:164,0:164:99:.:.:0,120,1800:.	6	0	1	0
chr7	155301607	155301607	G	A	exonic	INSIG1	.	nonsynonymous SNV	INSIG1:NM_001346590:exon3:c.G454A:p.G152R,INSIG1:NM_001346591:exon3:c.G454A:p.G152R,INSIG1:NM_001346592:exon3:c.G454A:p.G152R,INSIG1:NM_001346594:exon3:c.G454A:p.G152R,INSIG1:NM_005542:exon3:c.G454A:p.G152R	.	.	.	.	.	.	.	.	.	.	.	4154649	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.412	0.0182085521577	.	.	8.243e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs757412249	2.742e-06	3.42e-06	1.364e-06	4.133e-06	1.163e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.703e-06	0	1.163e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	0.121	0.35840	T	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.015	0.55033	M	0.71	0.51228	T	-4.47	0.77881	D	0.795	0.79118	-0.4581	0.70131	T	0.360	0.72216	T	10	0.87414324	0.86695	D	0.018209	0.40197	T	0.474	0.76685	0.722	0.85673	0.756306592105	0.75409	0.8768443856304984	0.87651	2.12773366393	0.95105	0.867854297161	0.92260	D	0.461263	0.79810	T	0.149691	0.69238	D	0.077875	0.75437	D	0.947651028633118	0.62728	D	0.915108	0.69728	D	0.42093608	0.62154	0.4359994	0.67067	0.42093608	0.62155	0.4359994	0.67068	-6.811	0.52641	T	.	.	0.962	0.88259	P	.	.	5.459766	0.91149	32	0.99931520648409933	0.99387	0.97623	0.75973	D	AEFDBCI	0.967941	0.99041	D	0.526500445182271	0.68661	5.248167	0.587462733752271	0.74039	6.069945	1.0	0.98316	0.706548	0.73137	0	0.662677	0.63036	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.25	5.25	0.73169	9.638000	0.97833	11.734000	0.95055	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.0:0.0:1.0:0.0	18.803	0.91989	974	0.05496	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	749.63	33	chr7	155301607	.	G	A	749.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.714;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=1.29;SOR=0.612	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1037	6	0	1	0
chr7	156736511	156736511	C	T	exonic	LMBR1	.	nonsynonymous SNV	LMBR1:NM_001350953:exon10:c.G862A:p.D288N,LMBR1:NM_001363409:exon10:c.G862A:p.D288N	Acheiropody, Autosomal recessive;Hypoplastic or aplastic tibia with polydactyly, Autosomal dominant;Laurin-Sandrow syndrome, Autosomal dominant;Polydactyly, preaxial type II, Autosomal dominant;Syndactyly, type IV, Autosomal dominant;Triphalangeal thumb, type I, Autosomal dominant;Triphalangeal thumb-polysyndactyly syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00204923495955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.07944	T	0.437	0.13441	T	.	.	.	.	.	.	0.086552	0.02409	U	3.402510	1	0.08975	N	.	.	.	0.96	0.42888	T	-0.36	0.13035	N	.	.	-1.0578	0.12311	T	0.060	0.25163	T	9	0.085886	0.14546	T	0.002049	0.03748	T	0.039	0.10176	.	.	0.366848117066	0.36290	.	.	.	.	.	.	.	0.002359	0.01759	T	-0.396076	0.02457	T	-0.806712	0.01740	T	0.0450451410617822	0.04610	T	0.467453	0.13767	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06479	B	.	.	0.048382	0.04624	1.289	0.56156640439083361	0.05492	0.00450	0.02181	N	AEFBI	0.054002	0.09779	N	-1.02538935071908	0.08079	0.3775781	-1.12821899440288	0.07165	0.3475029	0.0760278551513058	0.15715	0.559995	0.30671	0	0.446627	0.06534	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	1.83	0.924	0.18544	-0.377000	0.07513	-1.091000	0.06358	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.781:0.0:0.219	4.206	0.09947	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	255.02	125	chr7	156736511	.	C	T	255.02	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.565;DP=733;ExcessHet=0;FS=102.363;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=2.02;SOR=8.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:155,27:182:12:0|1:156736511_C_T:0,12,5114:156736511	6	0	1	0
chr7	156736513	156736513	C	G	exonic	LMBR1	.	nonsynonymous SNV	LMBR1:NM_001350953:exon10:c.G860C:p.G287A,LMBR1:NM_001363409:exon10:c.G860C:p.G287A	Acheiropody, Autosomal recessive;Hypoplastic or aplastic tibia with polydactyly, Autosomal dominant;Laurin-Sandrow syndrome, Autosomal dominant;Polydactyly, preaxial type II, Autosomal dominant;Syndactyly, type IV, Autosomal dominant;Triphalangeal thumb, type I, Autosomal dominant;Triphalangeal thumb-polysyndactyly syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00150614267822	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.737	0.03730	T	0.742	0.04947	T	.	.	.	.	.	.	0.003055	0.35512	U	0.000000	1	0.08975	N	.	.	.	1.07	0.39586	T	0.36	0.03700	N	.	.	-1.0354	0.18731	T	0.036	0.15683	T	9	0.061228067	0.07643	T	0.001506	0.02318	T	0.015	0.02232	.	.	0.0551355673512	0.04727	.	.	.	.	.	.	.	0.00383	0.03242	T	-0.375517	0.03324	T	-0.777181	0.02539	T	0.0953895747661591	0.11842	T	0.426357	0.11459	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.18037	B	.	.	-0.217594	0.03003	0.453	0.096758296991010767	0.00104	0.00485	0.02305	N	AEFBI	0.066300	0.12978	N	-1.38224089824468	0.02805	0.1243675	-1.49979183924639	0.02347	0.1077814	0.10501068513891	0.16491	0.559995	0.30671	0	0.446627	0.06534	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	1.83	-1.69	0.07747	-0.556000	0.06082	-1.611000	0.05064	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.3893:0.2507:0.36	2.769	0.05000	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	191.59	125	chr7	156736513	.	C	G	191.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.944;DP=904;ExcessHet=0;FS=94.071;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.11;ReadPosRankSum=1.85;SOR=9.308	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:155,27:182:12:0|1:156736511_C_T:0,12,5114:156736511	6	0	1	0
chr7	156736514	156736514	C	G	exonic	LMBR1	.	nonsynonymous SNV	LMBR1:NM_001350953:exon10:c.G859C:p.G287R,LMBR1:NM_001363409:exon10:c.G859C:p.G287R	Acheiropody, Autosomal recessive;Hypoplastic or aplastic tibia with polydactyly, Autosomal dominant;Laurin-Sandrow syndrome, Autosomal dominant;Polydactyly, preaxial type II, Autosomal dominant;Syndactyly, type IV, Autosomal dominant;Triphalangeal thumb, type I, Autosomal dominant;Triphalangeal thumb-polysyndactyly syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00190122551669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.06957	T	0.523	0.10354	T	.	.	.	.	.	.	0.003055	0.35512	U	0.000000	1	0.18612	N	.	.	.	1.02	0.40749	T	0.3	0.04091	N	.	.	-1.0527	0.13655	T	0.048	0.20513	T	9	0.08910519	0.15404	T	0.001901	0.03351	T	0.076	0.22200	.	.	0.176091768786	0.17195	.	.	.	.	.	.	.	0.00383	0.03242	T	-0.367071	0.03744	T	-0.765049	0.02935	T	0.105643652379513	0.12966	T	0.478452	0.14421	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.24934	B	.	.	-0.091437	0.03692	0.750	0.086422518250517763	0.00072	0.00911	0.03557	N	AEFBI	0.070950	0.14104	N	-0.8756185293714	0.11424	0.5512518	-0.979727185268035	0.10241	0.5145251	0.249579810517596	0.18665	0.559995	0.30671	0	0.446627	0.06534	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	1.83	1.83	0.24279	-0.561000	0.06048	-0.394000	0.09455	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	7.135	0.24702	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	191.44	38	chr7	156736514	.	C	G	191.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.421;DP=407;ExcessHet=0;FS=101.954;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.11;ReadPosRankSum=1.94;SOR=7.222	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,99,1485	6	0	1	0
chr7	158138399	158138399	C	T	exonic	PTPRN2	.	nonsynonymous SNV	PTPRN2:NM_001308267:exon6:c.G913A:p.V305M,PTPRN2:NM_130842:exon6:c.G976A:p.V326M,PTPRN2:NM_001308268:exon7:c.G1096A:p.V366M,PTPRN2:NM_002847:exon7:c.G1027A:p.V343M,PTPRN2:NM_130843:exon7:c.G1027A:p.V343M	.	428	1081	12	1	0	14	0.00643382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0023	0.0313498	0.0109	0.0077	0.0012	0.0909	0	0.0005	0.0078	0.0239	0.0102521	1585	154602	rs3752368	0.0044	0.0044	0.0039	0.0049	0.0788	0.0043	0.0043	0.0765	0.0755	0.0046	0.0009	0.0012	0.0788	0.0001	0.0049	0.0005	0.0078	0.0240	0.0060	0.0060	0.0055	0.0066	0.0881	0.0057	0.0056	0.0814	0.0788	0.0055	0	0.0024	0.0012	0.0881	0	0	0.0006	0.0080	0.0280	0.058	0.37750	T	0.254	0.33109	T	0.011	0.15914	B	0.01	0.14941	B	0.016495	0.01442	N	5.222610	1	0.08975	N	-0.205	0.04094	N	4.0	0.03239	T	-0.67	0.24026	N	0.041	0.01999	-0.9420	0.42298	T	0.001	0.00222	T	10	0.0018531382	0.00025	T	.	.	.	0.043	0.11576	.	.	.	.	0.19352542145355858	0.19270	0.21105830166	0.23610	0.35255536437	0.18298	T	0.037307	0.24427	T	-0.75878	0.00015	T	-0.789753	0.02171	T	0.00521713098286543	0.00056	T	0.607939	0.22935	T	0.032459017	0.03276	0.04098939	0.04556	0.032459017	0.03276	0.04098939	0.04556	-4.279	0.27881	T	.	.	0.106	0.19518	B	.;.;.;.;.	.;.;.;.;.	1.776088	0.22581	15.68	0.98901470143024783	0.48199	0.04713	0.10405	N	AEFDBI	0.059161	0.11153	N	-1.26468757244082	0.04109	0.1848191	-1.24532862616526	0.05200	0.2472159	0.609200251937581	0.21790	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.15	2.14	0.26518	1.086000	0.30464	0.085000	0.14440	-0.174000	0.10959	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.1426:0.7662:0.0:0.0912	9.315	0.37090	976	0.04745	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.011696	0.000000	0.000000	0.000000	0.003788	0.07143	495.83	33	chr7	158138399	.	C	T	495.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.561;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=2.19;SOR=0.622	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1515	6	0	1	0
chr7	158316846	158316846	C	T	exonic	PTPRN2	.	nonsynonymous SNV	PTPRN2:NM_130842:exon2:c.G199A:p.V67M,PTPRN2:NM_001308268:exon3:c.G319A:p.V107M,PTPRN2:NM_002847:exon3:c.G250A:p.V84M,PTPRN2:NM_130843:exon3:c.G250A:p.V84M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0164326573398	.	.	0.0001	0	0	0	0	1.592e-05	0	0.0009	9.06e-05	14	154602	rs764331168	4.738e-05	4.994e-05	2.87e-05	6.623e-05	0.0006	3.808e-05	3.489e-05	0.0005	0.0004	0	2.249e-05	0	0	0	0	1.349e-05	1.658e-05	0.0006	2.625e-05	2.624e-05	1.284e-05	4.025e-05	0.0004	8.13e-06	5.14e-06	7.282e-05	3.026e-05	4.808e-05	0	0	0	0	0	0	0	0	0.0004	0.159	0.23813	T	0.106	0.38016	T	0.567	0.38485	P	0.177	0.35687	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	4.09	0.02973	T	-0.71	0.21644	N	0.35	0.39153	-0.8952	0.48465	T	0.005	0.01725	T	9	0.043560833	0.03219	T	0.016433	0.37682	T	0.028	0.06331	0.281	0.23642	0.173771789658	0.16945	0.1187203084447316	0.11799	0.232828200155	0.25818	0.330910921097	0.15072	T	0.03346	0.22922	T	-0.576555	0.00202	T	-0.708474	0.05374	T	0.0214482321124857	0.00849	T	0.741926	0.37241	T	0.02905794	0.02339	0.040508702	0.04392	0.02905794	0.02339	0.040508702	0.04392	-5.811	0.46246	T	.	.	0.161	0.37464	B	.;.;.	.;.;.	0.622495	0.09910	6.668	0.97339778389033338	0.33466	0.02905	0.07703	N	AEFDBI	0.067332	0.13231	N	-0.975138066539905	0.09137	0.4311899	-1.01104911297676	0.09541	0.4753071	0.965203374760347	0.28815	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.88	0.945	0.18667	0.010000	0.13140	-0.769000	0.07503	-0.183000	0.09960	0.006000	0.17386	0.000000	0.08366	0.001000	0.02609	0.0:0.5712:0.1516:0.2771	5.801	0.17677	906	0.23090	.;.;RESP18 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	3550.42	34	chr7	158316846	.	C	T	3550.42	.	AC=2;AF=0.143;AN=14;DP=297;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=28.87;SOR=1.046	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1188	6	1	0	0
chr7	158879986	158879986	C	T	exonic	DYNC2I1	.	nonsynonymous SNV	DYNC2I1:NM_001350915:exon5:c.C359T:p.P120L	.	432	1079	9	2	0	13	0.00598802	.	.	.	692196	Short-rib_thoracic_dysplasia_8_with_or_without_polydactyly	MONDO:MONDO:0014214,MedGen:C3809691,OMIM:615503,Orphanet:93271	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0002	0	0	9.235e-05	0	0.0015	0.000207	32	154602	rs757328480	0.0001	0.0001	7.202e-05	0.0001	0.0012	9.64e-05	9.112e-05	0.0010	0.0009	0	0.0001	0.0008	0	0	0.0004	1.812e-05	0.0003	0.0012	4.602e-05	4.598e-05	2.571e-05	6.727e-05	0.0004	2.11e-05	1.527e-05	7.31e-05	3.036e-05	2.414e-05	0	0	0.0009	0	0	0	1.47e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	399.27	38	chr7	158879986	.	C	T	399.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.112;DP=242;ExcessHet=0;FS=4.901;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=0.621;SOR=0.223	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	5	0	1	1
chr8	166783	166783	A	G	exonic	OR4F21	.	nonsynonymous SNV	OR4F21:NM_001005504:exon1:c.T242C:p.M81T	.	585	926	9	2	0	13	0.00697051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.000628676177722	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202124421	0.0002	0.0025	0.0002	0.0002	0.0018	0.0001	0.0001	0.0014	0.0012	0.0006	0.0001	0.0002	0.0018	0.0002	0	8.171e-05	0.0002	1.779e-05	0.0006	0.0019	0.0005	0.0008	0.0010	0.0004	0.0004	0.0006	0.0005	0.0010	0	0.0004	0	0.0009	0.0007	0	0.0003	0.0038	0.0009	0.031	0.45039	D	0.014	0.62352	D	0.693	0.41684	P	0.411	0.44827	B	0.000021	0.55875	D	0.000000	0.999929	0.19486	N	1.595	0.40691	L	3.36	0.05918	T	-5.48	0.85692	D	0.581	0.60241	-1.0849	0.06426	T	0.029	0.12234	T	10	0.01610899	0.00339	T	6.29E-4	0.00319	T	0.116	0.32463	.	.	0.202086224978	0.19791	0.10955451447147059	0.10884	.	.	0.790796160698	0.80564	T	0.025967	0.19311	T	-0.143541	0.29328	T	-0.443963	0.28366	T	0.267472499435865	0.23639	T	0.783822	0.42110	T	0.39735842	0.60549	0.5430023	0.73586	0.39735842	0.60550	0.5430023	0.73586	-6.397	0.49486	T	.	.	0.516	0.65301	A	.	.	2.169576	0.27649	17.53	0.98578928014600264	0.43206	0.93589	0.58631	D	AEFI	0.279019	0.39316	N	0.0856601990239782	0.45795	2.830089	-0.0133059655777993	0.39112	2.314222	0.00217768840927568	0.09210	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.96	1.96	0.25203	5.793000	0.68709	9.656000	0.81182	0.214000	0.18013	0.656000	0.28225	1.000000	0.68203	0.119000	0.19126	1.0:0.0:0.0:0.0	7.588	0.27169	994	0.00715	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.045455	0.000000	0.043478	0.000000	0	0.000000	0.045455	0.100000	0.1667	99.68	3	chr8	166783	.	A	G	99.68	.	AC=2;AF=0.167;AN=12;DP=121;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=42.86;QD=33.23;SOR=2.833	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	1	0	1
chr8	2085363	2085363	G	C	exonic	MYOM2	.	nonsynonymous SNV	MYOM2:NM_003970:exon14:c.G1617C:p.K539N	.	436	1067	18	1	0	20	0.00928505	.	.	.	3216596	MYOM2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.080	0.0241659818376	0.0022	0.00179712	0.0028	0.0002	0.0020	0	0.0019	0.0036	0.0034	0.0035	0.0027037	418	154602	rs137923713	0.0029	0.0029	0.0029	0.0029	0.0132	0.0029	0.0028	0.0108	0.0099	0.0007	0.0024	3.826e-05	0	0.0030	0.0132	0.0031	0.0033	0.0037	0.0025	0.0025	0.0024	0.0025	0.0037	0.0023	0.0022	0.0031	0.0030	0.0006	0.0088	0.0027	0.0003	0.0004	0.0029	0.0136	0.0035	0.0043	0.0037	0.032	0.44694	D	0.112	0.37037	T	.	.	.	.	.	.	0.005828	0.32475	N	0.294315	0.968646	0.81001	D	.	.	.	0.63	0.53088	T	-1.33	0.33197	N	0.584	0.60495	-1.0105	0.26760	T	0.086	0.33298	T	10	0.012243539	0.00264	T	0.024166	0.47155	T	0.080	0.23350	0.474	0.55020	0.712770418609	0.71025	0.5107287513007086	0.50994	0.0278151165772	0.02851	0.432543307543	0.29556	T	.	.	.	-0.535084	0.00358	T	-0.54286	0.18016	T	0.0275743834854516	0.01626	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.515	0.65252	A	.	.	2.325149	0.29777	18.23	0.99417749304955194	0.63597	0.89452	0.49926	D	AEFDBI	0.426587	0.49088	N	-0.279700014692529	0.29933	1.66441	-0.15768430371848	0.33113	1.890835	0.969717760086207	0.29150	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.75	3.95	0.44952	1.285000	0.32866	3.765000	0.39732	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.044000	0.14658	0.2764:0.0:0.7236:0.0	9.066	0.35628	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017120	0.010101	0.021739	0.023392	0.050000	0.008621	0.009146	0.011364	0.07143	2186.46	36	chr8	2085363	.	G	C	2186.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.987;DP=380;ExcessHet=0;FS=1.094;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=0.37;SOR=0.598	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	6	0	1	0
chr8	2974508	2974508	C	A	exonic	CSMD1	.	nonsynonymous SNV	CSMD1:NM_033225:exon56:c.G8683T:p.D2895Y	.	420	1094	7	1	0	9	0.0040965	.	.	.	2349987	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.159	0.0494696539654	.	.	.	.	.	.	.	.	.	.	.	.	.	rs768738523	1.3e-05	1.436e-05	4.085e-06	2.201e-05	0.0007	8.32e-06	6.7e-06	0.0002	0.0001	0	0	0	0	0	0.0007	6.297e-06	3.313e-05	6.965e-05	1.971e-05	1.97e-05	1.284e-05	2.689e-05	2.939e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0.0005	0	0.029	0.68238	D	0.005	0.72224	D	0.232	0.30664	B	0.29	0.40682	B	0.595432	0.05615	N	1.221100	1	0.08975	N	.	.	.	-0.18	0.65747	T	-1.63	0.40274	N	0.317	0.38438	-0.9827	0.34375	T	0.059	0.24797	T	10	0.286025	0.46185	T	0.04947	0.63828	D	0.289	0.60808	0.669	0.80703	0.254761474806	0.25079	0.5081462967498733	0.50736	.	.	0.318448007107	0.13186	T	0.018437	0.14866	T	-0.178457	0.23967	T	-0.312589	0.43381	T	0.0782827650177267	0.09766	T	0.830817	0.49719	T	0.08101991	0.18596	0.10104582	0.24178	0.08101991	0.18595	0.10104582	0.24178	-4.416	0.29773	T	.	.	0.086	0.10594	B	.;.;.;.;.;.	.;.;.;.;.;.	1.291067	0.16917	12.85	0.80065552998624911	0.13029	0.33977	0.24958	N	AEFDHCI	0.103216	0.20685	N	-0.887177170818772	0.11147	0.5363581	-0.992097179302113	0.09962	0.4987689	8.24097530292964E-4	0.07872	0.55562	0.30534	0	0.573888	0.26702	0	0.68496	0.61776	0	0.564101	0.26826	0	.	.	5.66	-3.44	0.04493	0.245000	0.17917	-1.860000	0.04596	-0.994000	0.01837	0.885000	0.31090	0.000000	0.08366	0.000000	0.00833	0.2813:0.2617:0.2108:0.2462	0.214	0.00149	952	0.10565	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1078.46	77	chr8	2974508	.	C	A	1078.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.933;DP=268;ExcessHet=0;FS=0.895;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=-0.763;SOR=0.614	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1083	6	0	1	0
chr8	3151498	3151498	G	A	exonic	CSMD1	.	nonsynonymous SNV	CSMD1:NM_033225:exon40:c.C5930T:p.T1977M	.	424	1069	27	2	0	31	0.0142923	.	.	.	723056	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.032	.	0.0005	0.00239617	0.0027	0.0004	0.0011	0	0	0.0015	0.0026	0.0129	0.0019987	309	154602	rs201704028	0.0015	0.0015	0.0011	0.0018	0.0122	0.0014	0.0014	0.0116	0.0113	8.971e-05	0.0009	0.0031	2.52e-05	9.368e-05	0.0076	0.0007	0.0019	0.0122	0.0009	0.0009	0.0008	0.0009	0.0095	0.0008	0.0007	0.0073	0.0066	0.0002	0.0066	0.0008	0.0014	0	9.416e-05	0.0034	0.0007	0.0019	0.0095	0.029	0.45756	D	0.007	0.69154	D	0.331	0.33259	B	0.064	0.27215	B	0.002691	0.36102	N	0.234431	0.958481	0.38077	D	.	.	.	1.86	0.24285	T	-2.43	0.53258	N	0.349	0.39052	-1.0753	0.08287	T	0.060	0.25237	T	10	0.016356498	0.00344	T	.	.	.	0.032	0.07718	.	.	0.254244900254	0.25046	0.39313360522680163	0.39228	.	.	0.468585014343	0.34485	T	0.013381	0.11587	T	-0.51839	0.00450	T	-0.50702	0.21621	T	0.0260312283454855	0.01411	T	0.441056	0.12198	T	0.031643927	0.03042	0.08096344	0.18359	0.0377166	0.04887	0.06814266	0.14193	-7.207	0.55532	T	.	.	0.075	0.05317	B	.;.;.;.;.;.	.;.;.;.;.;.	3.526333	0.49451	22.8	0.9643385395450873	0.29803	0.80811	0.40355	D	AEFBI	0.153799	0.27872	N	-0.360636415741939	0.26883	1.470674	-0.354978153094556	0.26356	1.455214	0.201823811001923	0.18133	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.89	4.02	0.45968	2.078000	0.41191	6.364000	0.55513	0.676000	0.76740	0.837000	0.30238	0.997000	0.33255	0.063000	0.16184	0.0781:0.0:0.9219:0.0	12.932	0.57689	946	0.12043	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.002717	0.002924	0.000000	0.017241	0.003049	0.007576	0.08333	348.27	33	chr8	3151498	.	G	A	348.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.757;DP=202;ExcessHet=0;FS=1.356;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.397;SOR=0.864	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1289	5	0	1	1
chr8	3189966	3189966	G	T	exonic	CSMD1	.	nonsynonymous SNV	CSMD1:NM_033225:exon34:c.C5344A:p.Q1782K	.	427	1084	11	0	0	11	0.00504819	.	.	.	723058	not_provided|CSMD1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.122	0.00642747428256	0.0022	0.000399361	0.0041	0.0007	0.0032	0	0	0.0067	0.005	0.0008	0.0017658	273	154602	rs202157459	0.0023	0.0023	0.0023	0.0024	0.0070	0.0023	0.0022	0.0053	0.0047	0.0005	0.0015	0.0140	2.56e-05	0.0005	0.0070	0.0024	0.0027	0.0007	0.0020	0.0020	0.0021	0.0020	0.0028	0.0018	0.0018	0.0025	0.0024	0.0005	0.0022	0.0019	0.0127	0	0.0008	0.0034	0.0028	0.0061	0	0.253	0.16958	T	0.182	0.29249	T	0.055	0.22733	B	0.032	0.22131	B	0.000063	0.52346	U	0.077681	0.999439	0.47043	D	.	.	.	-0.23	0.66652	T	-1.4	0.34596	N	0.59	0.64223	-0.7056	0.60169	T	0.252	0.62166	T	10	0.010328531	0.00230	T	0.006427	0.16927	T	0.122	0.33800	.	.	0.514127983839	0.51054	0.43607606987235603	0.43524	.	.	0.391575098038	0.23891	T	0.019558	0.15561	T	-0.367915	0.03700	T	-0.306187	0.44067	T	0.0276009314543745	0.01631	T	0.943706	0.78720	D	0.29153302	0.52135	0.2241594	0.47319	0.29337117	0.52304	0.1851626	0.41611	-8.898	0.67038	D	.	.	0.079	0.07272	B	.;.;.;.;.;.	.;.;.;.;.;.	3.460469	0.48228	22.6	0.98180329609660877	0.38941	0.96328	0.68601	D	AEFBI	0.831007	0.74962	D	-0.0520743568011783	0.39509	2.331103	0.110874116548544	0.45104	2.779562	0.998366550449382	0.36832	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.34	5.34	0.75982	6.460000	0.73433	8.538000	0.77482	0.665000	0.62972	0.991000	0.37257	1.000000	0.68203	0.328000	0.25156	0.0:0.0:1.0:0.0	19.421	0.94715	934	0.15400	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.005051	0.005435	0.002924	0.050000	0.008621	0.006098	0.000000	0.1429	113.4	39	chr8	3189966	.	G	T	113.4	.	AC=2;AF=0.143;AN=14;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=28.35;SOR=1.609	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1390	6	1	0	0
chr8	3399410	3399410	T	C	exonic	CSMD1	.	nonsynonymous SNV	CSMD1:NM_033225:exon16:c.A2386G:p.I796V	.	.	.	.	.	.	.	.	.	.	.	2249431	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.072	0.0044952946552	.	.	.	.	.	.	.	.	.	.	.	.	.	rs893386178	6.88e-06	6.84e-06	6.841e-06	6.92e-06	6.939e-05	3.48e-06	2.54e-06	1.84e-05	9.1e-06	0	6.939e-05	0	0	0	0	5.412e-06	0	1.193e-05	5.256e-05	5.253e-05	0	0.0001	0.0005	2.557e-05	1.83e-05	0.0002	0.0002	0	0	0.0005	0	0	0	0	1.47e-05	0	0	0.282	0.24661	T	0.2	0.27591	T	0.836	0.46303	P	0.955	0.69585	D	0.000029	0.55875	D	0.073236	0.882384	0.35778	D	.	.	.	2.32	0.16640	T	-0.75	0.21215	N	0.419	0.45898	-0.8845	0.49398	T	0.126	0.43153	T	10	0.21122977	0.37544	T	0.004495	0.11031	T	0.126	0.34673	0.654	0.79172	0.194818534648	0.19098	0.3793166443635583	0.37846	.	.	0.561158895493	0.47432	T	0.013	0.11182	T	-0.406503	0.02097	T	-0.585022	0.14099	T	0.17815141838594	0.19118	T	0.941906	0.78301	D	0.08807547	0.20533	0.09342885	0.22067	0.08807547	0.20533	0.09342885	0.22066	-5.65	0.43246	T	.	.	0.077	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	2.850170	0.37631	20.5	0.76019176984142345	0.11301	0.87123	0.46569	D	AEFI	0.232728	0.35576	N	0.0162574853234352	0.42595	2.56941	0.0806363806667078	0.43575	2.656472	2.08796636596038E-4	0.05948	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.35	5.35	0.76297	3.153000	0.50383	2.303000	0.32029	0.609000	0.47794	0.999000	0.42656	0.999000	0.35428	0.946000	0.48989	0.0:0.0753:0.0:0.9247	10.064	0.41465	982	0.03397	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	201.83	34	chr8	3399410	.	T	C	201.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.11;DP=191;ExcessHet=0;FS=1.957;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-1.177;SOR=1.324	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	6	0	1	0
chr8	6499914	6499914	C	G	exonic	MCPH1	.	nonsynonymous SNV	MCPH1:NM_001322042:exon12:c.C2199G:p.H733Q,MCPH1:NM_001363979:exon12:c.C2199G:p.H733Q,MCPH1:NM_024596:exon12:c.C2199G:p.H733Q	Microcephaly 1, primary, autosomal recessive, Autosomal recessive	2	1513	7	0	0	7	0.00230795	.	.	.	899952	Microcephaly_1,_primary,_autosomal_recessive|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0009617,MedGen:C1855081,OMIM:251200,Orphanet:2512,Orphanet:52183|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.129	0.0038715443011	0.0002	.	0.0001	0	0	0	0	8.99e-05	0.0033	0.0005	0.0001488	23	154602	rs202015253	9.922e-05	9.987e-05	6.536e-05	0.0001	0.0009	8.581e-05	8.05e-05	0.0007	0.0007	5.975e-05	0.0001	0	0	0	0.0007	4.227e-05	0.0002	0.0009	0.0002	0.0002	0.0001	0.0002	0.0015	0.0001	9.233e-05	0.0007	0.0005	0	0	0.0005	0	0.0004	0	0	0.0001	0	0.0015	0.233	0.18122	T	0.352	0.17372	T	0.013	0.16609	B	0.004	0.10090	B	0.585008	0.05558	N	1.179420	0.538707	0.81001	D	0.345	0.11182	N	2.18	0.18875	T	-1.28	0.32185	N	0.114	0.10198	-1.0788	0.07582	T	0.057	0.23828	T	10	0.053441435	0.05537	T	0.003872	0.09086	T	0.129	0.35316	0.382	0.39970	0.526641945673	0.52312	0.20019492623862123	0.19936	.	.	0.297507345676	0.10030	T	0.162888	0.50773	T	-0.583419	0.00184	T	-0.711654	0.05211	T	0.0596184246242046	0.07109	T	.	.	.	0.23075016	0.45835	0.17753324	0.40361	0.30129564	0.53021	0.1584517	0.37002	-6.247	0.48301	T	.	.	0.163	0.35992	B	.	.	2.460628	0.31700	18.82	0.96448635557451656	0.29855	0.74114	0.36252	D	AEFBI	0.096790	0.19534	N	-0.102328461778403	0.37290	2.167473	0.0639460405314104	0.42750	2.591341	0.173903314657196	0.17775	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.645665	0.59343	0	.	.	5.78	5.78	0.91418	0.540000	0.22900	2.167000	0.31025	0.549000	0.26987	0.725000	0.28872	0.987000	0.30940	0.736000	0.35301	0.0:0.9166:0.0:0.0834	11.187	0.47891	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1575.44	36	chr8	6499914	.	C	G	1575.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.24;DP=405;ExcessHet=0;FS=0.547;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=0.397;SOR=0.747	GT:AD:DP:GQ:PL	0/1:106,77:183:99:1586,0,2514	6	0	1	0
chr8	6811979	6811979	T	C	exonic	XKR5	.	nonsynonymous SNV	XKR5:NM_207411:exon7:c.A1280G:p.N427S,XKR5:NM_001289973:exon8:c.A791G:p.N264S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00199681	0.0022	0	0	0	0	0	0	0.0055	0.0003428	53	154602	rs575657939	0.0003	0.0003	0.0001	0.0004	0.0048	0.0003	0.0003	0.0044	0.0042	3.165e-05	0	0	0	0	0.0005	2.781e-06	0.0002	0.0048	0.0002	0.0002	0.0002	0.0003	0.0075	0.0002	0.0002	0.0055	0.0049	0	0	0	0	0	0	0	0	0	0.0075	.	.	.	0.227	0.25362	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	0.14455	N	.	.	.	.	.	.	0.018	0.00252	.	.	.	.	.	.	.	0.0028327107	0.00045	T	.	.	.	.	.	.	.	0.148003135375	0.14442	0.07717370339444707	0.07653	.	.	0.278473138809	0.07281	T	0.008919	0.08152	T	-0.526785	0.00401	T	-0.528514	0.19434	T	.	.	.	0.267373	0.04426	T	0.047468577	0.08117	0.060316477	0.11466	0.047468577	0.08117	0.060316477	0.11465	-1.096	0.01112	T	.	.	0.070	0.03372	B	.	.	-0.124833	0.03496	0.657	0.61691439050081676	0.06772	0.01257	0.04415	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999965194259041	0.48965	0.156479	0.03450	1	0.166317	0.03975	0	0.114383	0.03170	0	0.075334	0.01956	0	0.0771818	0.17806	5.88	2.17	0.26736	0.766000	0.26225	-0.485000	0.08896	-0.114000	0.14653	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.1045:0.3288:0.5667	5.611	0.16684	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	4844.22	43	chr8	6811979	.	T	C	4844.22	.	AC=2;AF=0.143;AN=14;DP=346;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=32.73;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1061	6	1	0	0
chr8	7016736	7016736	C	G	exonic	DEFA1;DEFA1B;DEFA3	.	nonsynonymous SNV	DEFA1B:NM_001042500:exon2:c.G115C:p.D39H,DEFA1:NM_004084:exon2:c.G115C:p.D39H,DEFA3:NM_005217:exon2:c.G115C:p.D39H,DEFA1B:NM_001302265:exon3:c.G136C:p.D46H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	.	.	.	0.0195	0.0069	0	0.1662	0.0026	0.0005	0	0.0037	0.0016235	251	154602	rs371838080	0.0026	0.0038	0.0026	0.0026	0.0852	0.0025	0.0025	0.0827	0.0816	0.0002	0.0002	0	0.0852	0.0004	0.0003	0.0001	0.0029	0.0011	0.0023	0.0032	0.0020	0.0026	0.0586	0.0021	0.0020	0.0530	0.0508	0.0005	0	0.0003	0	0.0586	0.0003	0	0.0002	0.0020	0.0018	0.003	0.68238	D	0.02	0.58613	D	0.999	0.77913	D	0.988	0.77976	D	0.836118	0.06971	N	1.110310	1	0.08975	N	.	.	.	1.31	0.35405	T	-4.61	0.79060	D	0.115	0.10340	-0.9161	0.46076	T	0.167	0.50518	T	9	0.0034990013	0.00062	T	.	.	.	0.045	0.12272	.	.	0.258283824007	0.25425	0.1544821288190487	0.15369	3.01023712014	0.99228	0.403193861246	0.25514	T	0.074153	0.34869	T	-0.578085	0.00198	T	-0.633234	0.10170	T	0.0689576246939118	0.08505	T	0.518948	0.16858	T	0.257125	0.48755	0.16905582	0.38911	0.257125	0.48755	0.16905582	0.38911	-5.743	0.44074	T	.	.	0.217	0.44720	B	.	.	1.462151	0.18848	13.96	0.95926715732096446	0.28203	0.00243	0.01347	N	AEFI	0.043209	0.06801	N	-0.726180526596654	0.15288	0.7691677	-1.04529283699952	0.08805	0.4347516	1.02728524206626E-4	0.05123	0.497415	0.19182	0	0.59043	0.45803	0	0.54472	0.12158	0	0.613276	0.41899	0	.	.	2.04	-2.53	0.05959	-0.457000	0.06821	-2.438000	0.03754	-0.303000	0.06174	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3778:0.4572:0.165	4.328	0.10491	994	0.00715	Defensin propeptide	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	116.89	1	chr8	7016736	.	C	G	116.89	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.651;DP=44;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=26.58;MQRankSum=0.812;QD=9.74;ReadPosRankSum=-0.076;SOR=0.883	GT:AD:DP:GQ:PL	0/0:8,0:8:24:0,24,284	5	0	1	1
chr8	7332657	7332657	G	T	exonic	USP17L1;USP17L3	.	stopgain	USP17L3:NM_001256871:exon1:c.G271T:p.E91X,USP17L1:NM_001256873:exon1:c.G271T:p.E91X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1336787634	1.267e-05	8.047e-06	8.974e-06	1.595e-05	1.07e-05	4.55e-06	2.99e-06	2.85e-06	7.9e-07	0	0	0	0	0	0	1.07e-05	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.01004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.239933	0.15358	T	-0.582423	0.14328	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.234956	0.64158	24.7	0.74226995549645469	0.10617	0.19635	0.20737	N	AEFI	.	.	.	.	.	.	.	.	.	1.13047293163131E-5	0.02871	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0823262	0.18828	0.781	0.781	0.17707	0.892000	0.27957	-7.255000	0.01196	0.308000	0.19071	0.898000	0.31380	0.000000	0.08366	0.025000	0.12405	0.0:0.4034:0.5965:0.0	4.772	0.12531	994	0.00715	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	175.4	10	chr8	7332657	.	G	T	175.4	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.97;DP=70;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=35.98;MQRankSum=-1.915;QD=14.62;ReadPosRankSum=0.542;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,5:12:99:0|1:7332657_G_T:185,0,279:7332657	5	0	1	1
chr8	7332658	7332658	A	T	exonic	USP17L1;USP17L3	.	nonsynonymous SNV	USP17L3:NM_001256871:exon1:c.A272T:p.E91V,USP17L1:NM_001256873:exon1:c.A272T:p.E91V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1218746351	1.477e-05	1.34e-05	1.346e-05	1.594e-05	3.229e-05	6.14e-06	3.95e-06	2.85e-06	7.9e-07	0	0	0	3.229e-05	0	0	1.07e-05	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.42	0.00071	N	.	.	.	.	.	.	0.191	0.20925	.	.	.	.	.	.	.	0.09865025	0.17850	T	.	.	.	.	.	.	.	0.326074293725	0.32213	0.1552805320841279	0.15449	.	.	0.586859107018	0.51051	T	0.001739	0.01167	T	-0.0586673	0.43115	T	-0.322048	0.42350	T	.	.	.	0.577942	0.20808	T	0.0733486	0.16383	0.08242447	0.18810	0.0733486	0.16383	0.08242447	0.18810	7.244	0.00000	T	.	.	0.050	0.00136	B	.	.	0.044396	0.04597	1.270	0.45248639150077274	0.03538	0.01346	0.04623	N	AEFI	.	.	.	.	.	.	.	.	.	1.47773758972093E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0823262	0.18828	0.781	-1.56	0.08080	2.557000	0.45533	-0.115000	0.11785	-0.684000	0.04190	0.905000	0.31549	0.000000	0.08366	0.025000	0.12405	0.3506:0.172:0.0:0.4774	2.521	0.04396	994	0.00715	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	175.4	10	chr8	7332658	.	A	T	175.4	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2;DP=73;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=35.98;MQRankSum=-1.915;QD=14.62;ReadPosRankSum=0.542;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,5:12:99:0|1:7332657_G_T:185,0,279:7332657	5	0	1	1
chr8	7333515	7333515	G	A	exonic	USP17L1;USP17L3	.	nonsynonymous SNV	USP17L3:NM_001256871:exon1:c.G1129A:p.E377K,USP17L1:NM_001256873:exon1:c.G1129A:p.E377K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.898e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.46862	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	0.14455	N	.	.	.	.	.	.	0.25	0.28264	.	.	.	.	.	.	.	0.10075763	0.18370	T	.	.	.	.	.	.	.	0.0920862733494	0.08535	0.04745988724882907	0.04688	.	.	0.591529250145	0.51709	T	0.029586	0.21165	T	-0.0713543	0.41109	T	-0.340272	0.40313	T	.	.	.	0.736326	0.35288	T	0.06229566	0.12995	0.10049346	0.24029	0.06229566	0.12994	0.10049346	0.24028	-6.071	0.46869	T	.	.	0.114	0.22680	B	.	.	1.320084	0.17239	13.04	0.53322031503619816	0.04917	0.00344	0.01781	N	AEFI	.	.	.	.	.	.	.	.	.	1.15279963576522E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0443366	0.03230	0.472	0.472	0.15969	-0.092000	0.11094	0.047000	0.13948	-0.704000	0.03997	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2299.44	35	chr8	7333515	.	G	A	2299.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.223;DP=412;ExcessHet=0;FS=2.341;MLEAC=1;MLEAF=0.071;MQ=47.72;MQRankSum=1.05;QD=10.7;ReadPosRankSum=1.63;SOR=0.892	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1450	6	0	1	0
chr8	7359661	7359661	C	A	exonic	ZNF705G	.	nonsynonymous SNV	ZNF705G:NM_001164457:exon6:c.G276T:p.M92I	.	559	962	1	0	0	1	0.000519481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.000260017541138	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162457130	2.745e-06	7.529e-06	2.732e-06	2.759e-06	1.164e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.7e-06	0	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382	0.11120	T	0.192	0.28300	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.16	0.29674	L	3.21	0.07125	T	-1.25	0.31576	N	0.292	0.33030	-0.9508	0.40833	T	0.010	0.03492	T	7	0.10374072	0.19089	T	2.6E-4	0.00013	T	0.008	0.00669	0.352	0.35084	0.0138822411134	0.00435	0.021671821210769732	0.02119	8.85914395638E-4	0.00073	0.616853356361	0.55284	T	0.021798	0.16915	T	-0.37488	0.03354	T	-0.776266	0.02568	T	0.0310677552086176	0.02156	T	0.510449	0.16283	T	0.06866004	0.14976	0.07613186	0.16830	0.06866004	0.14976	0.07613186	0.16830	-2.877	0.08915	T	.	.	0.202	0.42592	B	.	.	-0.179249	0.03198	0.529	0.62374403696920055	0.06946	0.00137	0.00841	N	AEFI	0.020846	0.00865	N	-0.995106706711118	0.08707	0.4093233	-1.16764708493011	0.06457	0.3108578	1.15659289672568E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	0.861	-0.339	0.12019	-0.520000	0.06338	-20.000000	0.00162	0.215000	0.18024	0.068000	0.22015	0.000000	0.08366	0.039000	0.14166	0.0:0.3706:0.0:0.6294	2.766	0.04993	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2110.44	202	chr8	7359661	.	C	A	2110.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.13;DP=434;ExcessHet=0;FS=3.546;MLEAC=1;MLEAF=0.071;MQ=52.36;MQRankSum=-9.979;QD=10.45;ReadPosRankSum=-0.87;SOR=1.006	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	6	0	1	0
chr8	7972772	7972772	G	A	exonic	USP17L8	.	nonsynonymous SNV	USP17L8:NM_001256872:exon1:c.C482T:p.A161V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0795	0.0625	.	.	.	0.5	.	0	0.0001153	3	26028	rs749180205	0.0035	0.0008	0.0043	0.0028	0.0082	0.0032	0.0031	0.0071	0.0067	0.0082	0.0066	0	0.0004	0	0.0042	0.0026	0.0049	0.0003	0.0138	0.0079	0.0129	0.0147	0.0141	0.0125	0.0119	0.0127	0.0121	0.0141	.	0.0103	0	0	0	0	0.0102	0.0340	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	3.605	0.93784	H	.	.	.	.	.	.	0.331	0.37197	.	.	.	.	.	.	.	0.002868116	0.00046	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.02632342877385491	0.02582	.	.	0.578756928444	0.49911	T	0.090012	0.38494	T	0.0873975	0.62896	D	-0.112236	0.62432	T	.	.	.	0.816718	0.47282	T	0.044865575	0.07246	0.21212623	0.45670	0.044865575	0.07245	0.21212623	0.45669	-9.471	0.70678	D	.	.	0.242	0.47611	B	.	.	3.388180	0.46898	22.4	0.72194664984544976	0.09889	0.59780	0.31010	D	AEFI	.	.	.	.	.	.	.	.	.	3.63787906287147E-5	0.03775	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.568869	0.40319	0.45	0.45	0.15835	3.984000	0.56632	1.679000	0.28001	0.301000	0.18947	0.969000	0.34210	0.903000	0.28003	0.053000	0.15439	1.0E-4:0.0:0.9999:0.0	6.846	0.23171	988	0.01987	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	228.43	.	chr8	7972772	.	G	A	228.43	.	AC=2;AF=0.5;AN=4;DP=10;ExcessHet=0;FS=0;MLEAC=4;MLEAF=1;MQ=24.83;QD=28.55;SOR=4.407	GT:AD:DP:GQ:PL	1/1:0,8:8:24:236,24,0	1	1	0	5
chr8	7972949	7972949	G	A	exonic	USP17L8	.	nonsynonymous SNV	USP17L8:NM_001256872:exon1:c.C305T:p.P102L	.	185	39	0	2	0	4	0.0487805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0003	0	.	0	0	0	0	3.84e-05	1	26028	rs765850356	0.0010	0.0033	0.0010	0.0011	0.0023	0.0008	0.0008	0.0018	0.0016	0.0023	0.0011	0	0	0	0	0.0002	0.0014	0.0013	0.0011	0.0028	0.0006	0.0016	0.0011	0.0007	0.0006	0.0007	0.0006	0.0011	.	0	0	0	0	0	0	0	0	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	3.235	0.89610	M	.	.	.	.	.	.	0.226	0.25377	.	.	.	.	.	.	.	0.0066080987	0.00150	T	.	.	.	.	.	.	.	.	.	0.07696375020301947	0.07632	.	.	0.436816811562	0.30143	T	0.037622	0.24541	T	0.0484934	0.58149	T	-0.168119	0.57615	T	.	.	.	0.818018	0.47523	T	0.08351498	0.19289	0.15608095	0.36559	0.08351498	0.19289	0.15608095	0.36558	-8.314	0.63190	D	.	.	0.113	0.22245	B	.	.	2.149342	0.27375	17.44	0.81297466177872524	0.13616	0.37350	0.25742	N	AEFI	.	.	.	.	.	.	.	.	.	1.38290631700752E-5	0.02871	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0790037	0.18180	0.45	-0.9	0.10008	5.241000	0.65206	-0.213000	0.10835	-0.710000	0.03952	0.926000	0.32145	0.000000	0.08366	0.469000	0.28319	0.0:0.3147:0.6853:0.0	6.210	0.19836	988	0.01987	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	1.0	1132.93	.	chr8	7972949	.	G	A	1132.93	.	AC=2;AF=1;AN=2;DP=42;ExcessHet=0;FS=0;MLEAC=4;MLEAF=1;MQ=43.71;QD=26.97;SOR=1.127	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1137,126,0	0	1	0	6
chr8	8377994	8377994	C	T	exonic	PRAG1	.	nonsynonymous SNV	PRAG1:NM_001080826:exon3:c.G415A:p.V139I,PRAG1:NM_001369759:exon3:c.G415A:p.V139I	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	.	0.00838658	0.0030	0.0001	0	0.0375	0	4.638e-05	0.0024	0.0012	0.0026714	413	154602	rs34346032	0.0015	0.0015	0.0016	0.0015	0.0492	0.0015	0.0014	0.0474	0.0466	0.0001	4.504e-05	0.0003	0.0492	0	0.0002	9.911e-06	0.0021	0.0011	0.0016	0.0016	0.0013	0.0019	0.0418	0.0014	0.0013	0.0373	0.0355	4.812e-05	0	0.0002	0.0003	0.0418	0	0	8.818e-05	0.0005	0.0021	.	.	.	0.294	0.20745	T	0.001	0.07471	B	0.001	0.04355	B	0.132007	0.02815	N	2.005860	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.088	0.06587	-1.0292	0.20713	T	0.025	0.10866	T	10	0.0025531352	0.00039	T	.	.	.	.	.	.	.	0.0401082797425	0.02173	0.04730278728767165	0.04673	.	.	0.326323330402	0.14379	T	0.020504	0.16130	T	-0.721487	0.00027	T	-0.780574	0.02436	T	0.00551260081461059	0.00060	T	0.560744	0.19617	T	0.009911769	0.00004	0.024715867	0.00496	0.009911769	0.00004	0.024715867	0.00496	-4.065	0.24772	T	.	.	0.070	0.04198	B	.;.	.;.	-0.416211	0.02152	0.208	0.97584950101558265	0.34758	0.10795	0.16198	N	AEFDBCI	0.031707	0.03443	N	-1.01307175429519	0.08332	0.3902991	-1.06509131561275	0.08395	0.4126005	0.998538001401199	0.37148	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.12	-1.11	0.09336	-0.767000	0.04826	-4.423000	0.02164	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.069000	0.16583	0.0:0.4594:0.2511:0.2895	5.272	0.14943	930	0.16408	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	997.46	34	chr8	8377994	.	C	T	997.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.947;DP=294;ExcessHet=0;FS=0.78;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-3.264;SOR=0.827	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1451	6	0	1	0
chr8	8702600	8702600	C	T	exonic	CLDN23	.	stopgain	CLDN23:NM_194284:exon1:c.C202T:p.Q68X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394366370	6.873e-07	6.84e-07	1.366e-06	0	9.019e-07	0	0	.	.	0	0	0	0	0	0	9.019e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.065	0.03726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.538295	0.00343	T	-1.011	0.00119	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	3.778306	0.54311	23.5	0.90173158549523191	0.19450	0.02875	0.07651	N	AEFDBCI	0.035818	0.04672	N	-1.46139431890076	0.02129	0.09366553	-1.93319994575033	0.00420	0.01858857	0.999999999998752	0.74766	0.652421	0.48094	0	0.491552	0.07993	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	4.55	-9.1	0.00610	-2.216000	0.01305	-7.240000	0.01199	-4.193000	0.00038	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1627:0.7255:0.1118:0.0	20.579	0.99374	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	492.27	36	chr8	8702600	.	C	T	492.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.937;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=-1.429;SOR=0.871	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,931	5	0	1	1
chr8	8703032	8703032	T	-	exonic	CLDN23	.	frameshift deletion	CLDN23:NM_194284:exon1:c.634delT:p.W212Gfs*85	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	760.41	34	chr8	8703031	.	GT	G	760.41	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.23;DP=279;ExcessHet=0;FS=1.078;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=1.06;SOR=1.012	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,106,1252	6	0	1	0
chr8	9140870	9140870	C	A	exonic	PPP1R3B	.	nonsynonymous SNV	PPP1R3B:NM_001201329:exon2:c.G782T:p.S261I,PPP1R3B:NM_024607:exon2:c.G782T:p.S261I	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493	0.077745923414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.005	0.72224	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.955	0.85029	M	0.68	0.51952	T	-4.02	0.74269	D	0.858	0.92784	-0.4758	0.69519	T	0.319	0.68865	T	10	0.85666	0.84865	D	0.077746	0.72844	D	0.493	0.77910	0.477	0.55502	0.831339944051	0.82973	0.9039392264418845	0.90366	0.314215289749	0.33704	0.558497071266	0.47055	T	0.410217	0.76502	T	0.185477	0.72547	D	0.0286488	0.72191	D	0.996704518795013	0.89904	D	.	.	.	0.7429689	0.80462	0.6377731	0.78847	0.7429689	0.80464	0.6377731	0.78848	-6.267	0.48461	T	.	.	0.621	0.69975	P	.;.	.;.	4.470333	0.69653	25.4	0.99669946110658747	0.78523	0.97906	0.78023	D	AEFBCI	0.924131	0.90167	D	0.87300757571269	0.90377	10.37607	0.87139304873432	0.94201	12.57968	0.999999999999998	0.74766	0.722319	0.85440	0	0.53679	0.11191	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.93	5.93	0.95888	7.876000	0.85623	7.648000	0.63548	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	19.332	0.94280	942	0.12992	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1718.49	34	chr8	9140870	.	C	A	1718.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.57;DP=348;ExcessHet=0;FS=0.689;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=2.73;SOR=0.807	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	6	0	1	0
chr8	10532982	10532982	G	T	exonic	PRSS55	.	nonsynonymous SNV	PRSS55:NM_001197020:exon4:c.G675T:p.M225I,PRSS55:NM_198464:exon4:c.G675T:p.M225I	.	.	.	.	.	.	.	.	.	.	.	2290731	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.247	0.0515346890686	0.0010	.	0.0005	0.0002	0	0	0.0008	0.0009	0.0011	0	0.0006468	100	154602	rs139167926	0.0012	0.0012	0.0013	0.0012	0.0015	0.0012	0.0012	0.0015	0.0015	0.0002	0.0002	7.652e-05	0	0.0007	0	0.0015	0.0006	6.956e-05	0.0007	0.0007	0.0008	0.0006	0.0012	0.0006	0.0006	0.0010	0.0009	0.0004	0	0.0001	0	0	0.0006	0	0.0012	0.0005	0	0.238	0.17821	T	0.42	0.14116	T	0.004	0.12183	B	0.002	0.06944	B	0.020523	0.01534	N	3.405570	1	0.08975	N	0.12	0.08593	N	-2.39	0.88377	D	-1.07	0.27876	N	0.11	0.10769	-0.6099	0.64407	T	0.429	0.77160	T	10	0.022681773	0.00573	T	0.051535	0.64701	D	0.247	0.55478	0.589	0.71749	0.322230723748	0.31824	0.4720501294298216	0.47124	0.00117461993781	0.00099	0.25502038002	0.04315	T	0.108116	0.42088	T	-0.462074	0.00954	T	-0.442062	0.28579	T	0.00406579005077457	0.00043	T	0.0516948	0.02461	T	0.093868084	0.22058	0.10840142	0.26113	0.093868084	0.22057	0.10840142	0.26112	-3.274	0.13404	T	.	.	0.113	0.38080	B	.;.	.;.	-0.255905	0.02818	0.389	0.61095129873304654	0.06624	0.04088	0.09549	N	AEFDBI	0.067603	0.13297	N	-1.30927852537817	0.03568	0.1596236	-1.33185569569229	0.04024	0.188965	0.0109132408987701	0.12102	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.27	-2.64	0.05757	-0.049000	0.11879	-0.119000	0.11742	-0.242000	0.07441	0.008000	0.17931	0.000000	0.08366	0.150000	0.20306	0.4638:0.1204:0.4158:0.0	6.758	0.22715	889	0.27310	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	3412.63	34	chr8	10532982	.	G	T	3412.63	.	AC=2;AF=0.143;AN=14;DP=312;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=28.68;SOR=0.71	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1339	6	1	0	0
chr8	10607553	10607553	G	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.C6545A:p.A2182D	Occult macular dystrophy, Autosomal dominant	40	1467	15	0	0	15	0.00508647	.	.	.	303800	not_provided|Occult_macular_dystrophy	MedGen:C3661900|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.010	.	0.0083	0.00379393	0.0073	0.0009	0.0062	0	0.0023	0.0111	0.0133	0.0021	0.0069857	1080	154602	rs183570817	0.0087	0.0085	0.0087	0.0087	0.0129	0.0086	0.0085	0.0105	0.0096	0.0013	0.0070	0.0222	5.092e-05	0.0022	0.0129	0.0097	0.0090	0.0022	0.0072	0.0072	0.0076	0.0068	0.0125	0.0069	0.0067	0.0111	0.0105	0.0016	0	0.0125	0.0174	0	0.0022	0.0073	0.0104	0.0111	0.0041	0.0	0.91255	D	0.31	0.19721	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.18	0.07478	T	-0.43	0.14390	N	0.114	0.10198	-0.9265	0.44645	T	0.010	0.03492	T	9	0.0047160983	0.00099	T	.	.	.	0.010	0.01040	.	.	0.0954503805726	0.09146	0.04161955021983666	0.04106	.	.	0.202856898308	0.00544	T	.	.	.	-0.714672	0.00030	T	-0.787029	0.02247	T	0.00840453529825069	0.00102	T	0.335166	0.07140	T	0.15993142	0.35899	0.14459392	0.34323	0.15993142	0.35899	0.14459392	0.34322	-9.946	0.73588	D	.	.	0.116	0.23465	B	.	.	0.319752	0.06943	3.489	0.25417604485007622	0.01171	0.00864	0.03432	N	AEFBI	0.028517	0.02526	N	-1.14680286162306	0.05832	0.2669221	-1.23324392418795	0.05384	0.2563897	1.22422377422354E-5	0.02871	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.67	0.708	0.17301	-0.520000	0.06338	-2.209000	0.04054	0.348000	0.19902	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1575:0.231:0.6116:0.0	5.154	0.14355	796	0.45353	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009073	0.015152	0.010870	0.008824	0.000000	0.025862	0.006098	0.000000	0.07143	3026.44	45	chr8	10607553	.	G	T	3026.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.431;DP=761;ExcessHet=0;FS=3.541;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=1.85;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,125:243:99:0|1:10607553_G_T:3037,0,4049:10607553	6	0	1	0
chr8	10609944	10609944	A	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.T4154C:p.L1385P	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00154599027019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.957e-07	6.841e-06	1.384e-06	0	9.147e-07	0	0	.	.	0	0	0	0	0	0	9.147e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.352	0.17372	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.31	0.06291	T	-0.84	0.22944	N	0.246	0.27792	-0.9521	0.40608	T	0.010	0.03627	T	9	0.09340763	0.16528	T	0.001546	0.02420	T	0.019	0.03383	0.19	0.10039	0.252681307341	0.24864	0.04820050725330025	0.04763	.	.	0.277951002121	0.07208	T	.	.	.	-0.338111	0.05520	T	-0.723449	0.04631	T	0.104427913888091	0.12837	T	0.312769	0.06128	T	0.18423171	0.39729	0.18186693	0.41077	0.18423171	0.39728	0.18186693	0.41076	-5.006	0.36905	T	.	.	0.116	0.23500	B	.	.	1.339715	0.17462	13.18	0.83328979539444226	0.14666	0.00623	0.02749	N	AEFDBI	0.039816	0.05836	N	-1.21499860110366	0.04781	0.2165456	-1.31279977474022	0.04264	0.2007433	1.76998291139271E-4	0.05786	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.72	-1.96	0.07113	-0.566000	0.06013	-0.531000	0.08635	0.410000	0.20643	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4099:0.1824:0.4077:0.0	4.524	0.11378	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1787.59	130	chr8	10609944	.	A	G	1787.59	.	AC=2;AF=0.5;AN=4;BaseQRankSum=-3.617;DP=1121;ExcessHet=0.4139;FS=229.301;MLEAC=3;MLEAF=0.75;MQ=60;MQRankSum=0;QD=3.66;ReadPosRankSum=1.93;SOR=9.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:200,77:277:99:0|1:10609944_A_G:806,0,6122:10609944	0	0	2	5
chr8	10609948	10609948	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150A:p.G1384R	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00160529655429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.751e-06	2.736e-06	1.369e-06	4.147e-06	3.01e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	3.01e-05	0	0	0	0	0	2.712e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.104384124	0.19241	T	0.001605	0.02574	T	0.050	0.13987	0.278	0.23164	0.316788114976	0.31282	0.06568764159549773	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.39725	0.02413	T	-0.808399	0.01701	T	0.0816829286653207	0.10202	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.735258	0.11045	7.700	0.060865936656048288	0.00019	0.01778	0.05572	N	AEFDBI	0.030371	0.03043	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	3234.03	95	chr8	10609948	.	C	T	3234.03	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-3.261;DP=991;ExcessHet=0.4139;FS=338.08;MLEAC=2;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.57;ReadPosRankSum=3.66;SOR=10.2	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,112:274:99:0|1:10609944_A_G:2249,0,5101:10609944	1	0	1	5
chr8	10609948	10609948	C	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150C:p.G1384R	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3188301	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.045	0.00162238193855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.94e-06	1.642e-05	1.095e-05	6.912e-06	0.0003	4.99e-06	3.84e-06	0.0002	0.0002	0	0	0	0.0003	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.10402462	0.19156	T	0.001622	0.02625	T	0.045	0.12272	0.278	0.23164	0.316788114976	0.31282	0.06568765536653219	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.397244	0.02413	T	-0.80839	0.01701	T	0.0790720420029634	0.09867	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.672697	0.10411	7.134	0.053606148112299815	0.00010	0.02277	0.06569	N	AEFDBI	0.028927	0.02637	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.25	3234.03	95	chr8	10609948	.	C	G	3234.03	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-3.261;DP=991;ExcessHet=0.4139;FS=338.08;MLEAC=2;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.57;ReadPosRankSum=3.66;SOR=10.2	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:162,0:274:99:0|1:10609944_A_G:2249,2729,8158:10609944	1	0	1	5
chr8	10610866	10610866	G	A	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.C3232T:p.R1078W	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3188315	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.318	0.447397678981	8.4e-05	0.000199681	0.0001	0	0.0002	0.0011	0	0	0	0.0001	9.7e-05	15	154602	rs200718720	5.495e-05	5.472e-05	5.052e-05	5.943e-05	0.0008	4.495e-05	4.164e-05	0.0006	0.0005	9.009e-05	0.0002	0	0.0008	0	0.0003	1.894e-05	4.996e-05	9.294e-05	0.0001	0.0001	6.427e-05	0.0002	0.0017	7.575e-05	6.28e-05	0.0009	0.0007	4.814e-05	0	0.0003	0	0.0017	0	0	1.47e-05	0.0005	0	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	0.451406	0.12503	N	0.653518	1	0.08975	N	1.955	0.52871	M	-1.04	0.76561	T	-3.07	0.63207	D	0.285	0.32259	-0.6679	0.61923	T	0.397	0.74923	T	10	0.11803058	0.22304	T	0.447398	0.94278	D	0.318	0.64008	.	.	0.620635632974	0.61756	0.05956671973931542	0.05896	.	.	0.329143106937	0.14805	T	0.260964	0.63239	T	-0.288961	0.09741	T	-0.223227	0.52425	T	0.175632200864151	0.18955	T	0.635136	0.24942	T	0.092479765	0.21697	0.08565338	0.19791	0.092479765	0.21697	0.08565338	0.19791	-6.305	0.48762	T	0.5202646219223568	0.59265	0.184	0.39832	B	.	.	2.461332	0.31708	18.82	0.99816813720521125	0.89973	0.07301	0.13323	N	AEFDBI	0.116153	0.22807	N	-0.363667714277517	0.26773	1.463741	-0.571207630978834	0.20245	1.089867	8.46726642096835E-5	0.04703	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.65	0.546	0.16386	0.595000	0.23729	-0.119000	0.11742	-0.288000	0.06323	0.001000	0.13787	0.000000	0.08366	0.008000	0.08271	0.1543:0.0:0.4042:0.4415	5.661	0.16945	793	0.45818	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	382.83	20	chr8	10610866	.	G	A	382.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.61;DP=191;ExcessHet=0;FS=4.824;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=1.71;SOR=1.516	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1196	6	0	1	0
chr8	10725756	10725756	G	C	exonic	SOX7	.	nonsynonymous SNV	SOX7:NM_031439:exon2:c.C1149G:p.N383K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.516	0.386800961027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.18434	T	0.252	0.23570	T	0.976	0.58310	D	0.95	0.68788	D	0.000000	0.84330	U	0.000000	0.999992	0.58761	D	2.72	0.79541	M	-1.08	0.77078	T	-1.76	0.41618	N	0.866	0.91047	-0.0521	0.81162	T	0.547	0.83374	D	10	0.84771323	0.83940	D	0.386801	0.93098	D	0.516	0.79340	0.49	0.57573	0.906895610935	0.90596	0.5225096371764829	0.52173	0.702741082225	0.61224	0.785796642303	0.79804	T	0.232189	0.59870	T	0.0608623	0.59721	T	-0.150352	0.59213	T	0.945200264453888	0.62213	D	.	.	.	0.17139532	0.37770	0.14537916	0.34480	0.17139532	0.37770	0.14537916	0.34479	-11.61	0.82899	D	.	.	0.913	0.83787	P	.;.	.;.	3.721689	0.53189	23.3	0.99477655030146328	0.66687	0.94420	0.61108	D	AEFDBCI	0.679038	0.64320	D	0.294045380356731	0.55847	3.748739	0.239579107340249	0.52060	3.383378	0.99999995228458	0.74766	0.730579	0.87903	0	0.59043	0.45803	0	0.576033	0.28219	0	0.648885	0.59868	0	.	.	4.74	2.91	0.32903	3.402000	0.52356	2.775000	0.34697	-0.118000	0.14412	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.2266:0.0:0.7734:0.0	10.267	0.42642	765	0.49814	Sox, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1000.44	77	chr8	10725756	.	G	C	1000.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.072;DP=447;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=0.234;SOR=0.677	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	6	0	1	0
chr8	11761669	11761669	G	A	exonic	C8orf49	.	nonsynonymous SNV	C8orf49:NM_001031839:exon1:c.G256A:p.A86T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	0.00219649	0.0047	0	0	0	0	0	0	0.0076	0.0004722	73	154602	rs541295477	0.0016	0.0008	0.0009	0.0022	0.0074	0.0015	0.0014	0.0068	0.0066	0.0002	0.0011	0	0	0	0.0014	0	0.0008	0.0074	0.0004	0.0004	0.0003	0.0006	0.0102	0.0003	0.0003	0.0079	0.0071	0.0001	0	0.0003	0	0	0	0	1.47e-05	0.0005	0.0102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	37.15	1	chr8	11761669	.	G	A	37.15	.	AC=2;AF=0.2;AN=10;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;QD=18.58;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:3,0:3:9:.:.:0,9,106:.	4	1	0	2
chr8	11808562	11808562	G	C	exonic	FDFT1	.	nonsynonymous SNV	FDFT1:NM_001287750:exon1:c.G45C:p.K15N	.	0	225	1	0	0	1	0.00221729	.	.	.	1037841	not_provided|FDFT1-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00259585	.	.	.	.	.	.	.	.	0.0051483	134	26028	rs181750463	0.0080	0.0069	0.0082	0.0078	0.0092	0.0079	0.0078	0.0091	0.0090	0.0016	0.0026	0	0	0.0016	0.0003	0.0092	0.0070	0.0004	0.0045	0.0045	0.0052	0.0038	0.0081	0.0043	0.0042	0.0076	0.0074	0.0014	0	0.0042	0	0	0.0004	0	0.0081	0.0038	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013361603	0.00284	T	.	.	.	.	.	.	.	.	.	0.25797449620942636	0.25711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.428957	0.11607	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.841	0.79281	P	.	.	2.247927	0.28711	17.89	0.91072291409567174	0.20324	0.91547	0.53758	D	AEFDBHCIJ	.	.	.	.	.	.	.	.	.	0.999999993405534	0.74766	0.162408	0.03677	1	0.090139	0.02499	0	0.132232	0.03703	1	0.143876	0.04018	0	0.823858	0.49243	4.32	3.45	0.38602	5.258000	0.65299	.	.	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.1025:0.0:0.8975:0.0	9.259	0.36762	963	0.08280	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	238.31	13	chr8	11808562	.	G	C	238.31	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.164;DP=63;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.33;ReadPosRankSum=0.997;SOR=1.27	GT:AD:DP:GQ:PL	0/0:9,0:9:27:0,27,262	5	0	1	1
chr8	12137979	12137979	G	A	exonic	USP17L2	.	nonsynonymous SNV	USP17L2:NM_201402:exon1:c.C782T:p.A261V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00068416917784	.	0.000199681	0.0002	0	0.0001	0	0.0002	0.0002	0	0	3.84e-05	1	26028	rs533986354	5.888e-05	6.237e-05	4.548e-05	7.238e-05	0.0002	4.817e-05	4.462e-05	8.698e-05	5.919e-05	0.0002	0.0002	0	8.79e-05	2.084e-05	0	5.465e-05	3.579e-05	5.191e-05	2.858e-05	3.452e-05	5.556e-05	0	0.0002	9.68e-06	5.5e-06	2.156e-05	1.097e-05	8.134e-05	0	0	0	0.0002	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.022	0.18677	B	0.013	0.16460	B	0.539921	0.11547	N	0.703563	1	0.08975	N	-1.96	0.00210	N	3.54	0.04799	T	2.3	0.00290	N	0.062	0.03392	-0.9643	0.38350	T	0.003	0.00897	T	10	0.022297472	0.00553	T	6.84E-4	0.00400	T	0.058	0.16647	0.575	0.69957	0.0401082797425	0.02173	0.008152782907105586	0.00780	0.383782689865	0.39694	0.449901551008	0.31931	T	1.63E-4	0.00025	T	-0.406761	0.02089	T	-0.822061	0.01411	T	0.0173252834884414	0.00472	T	0.358764	0.08201	T	0.018077744	0.00330	0.03487848	0.02636	0.018077744	0.00330	0.03487848	0.02635	-1.999	0.03177	T	.	.	0.083	0.08997	B	.	.	0.101825	0.05034	1.580	0.75348365592430089	0.11040	0.00007	0.00120	N	AEFI	0.012884	0.00154	N	-2.0362643795621	0.00177	0.0075651	-2.00408017542291	0.00300	0.0132606	2.57450684922162E-6	0.01202	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.745	-1.49	0.08259	-0.625000	0.05630	-2.383000	0.03823	-1.713000	0.00740	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4401:0.0:0.5599:0.0	4.577	0.11635	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003222	0.000000	0.002857	0.000000	0.000000	0.009091	0.008333	0.000000	0.1667	4272.93	73	chr8	12137979	.	G	A	4272.93	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.844;DP=450;ExcessHet=0;FS=3.274;MLEAC=2;MLEAF=0.167;MQ=47.08;MQRankSum=-1.228;QD=27.93;ReadPosRankSum=1.55;SOR=0.436	GT:AD:DP:GQ:PL	1/1:1,152:153:99:4292,417,0	5	1	0	1
chr8	17239735	17239735	C	T	exonic	CNOT7	.	nonsynonymous SNV	CNOT7:NM_001322093:exon4:c.G368A:p.R123Q	.	938	579	4	1	0	6	0.00515464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	.	.	.	.	.	.	.	.	0.000461	12	26028	rs534380200	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0009	0.0008	0.0009	0.0073	0.0008	0.0007	0.0054	0.0047	0.0002	0	0.0005	0.0046	0	0.0002	0.0034	0.0009	0.0014	0.0073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	58.15	7	chr8	17239735	.	C	T	58.15	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.65;DP=127;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=-1.036;SOR=1.609	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,814	4	0	1	2
chr8	17715892	17715892	G	A	exonic	MTUS1	.	nonsynonymous SNV	MTUS1:NM_001001931:exon2:c.C200T:p.A67V,MTUS1:NM_001001925:exon4:c.C2297T:p.A766V,MTUS1:NM_001363060:exon4:c.C2297T:p.A766V,MTUS1:NM_001363062:exon4:c.C2297T:p.A766V,MTUS1:NM_001001924:exon5:c.C2459T:p.A820V,MTUS1:NM_001363057:exon5:c.C2459T:p.A820V,MTUS1:NM_001363059:exon5:c.C2459T:p.A820V,MTUS1:NM_001363061:exon5:c.C2459T:p.A820V,MTUS1:NM_001363058:exon6:c.C2459T:p.A820V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0286938277522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.72154	D	0.016	0.60972	D	0.973	0.62325	D	0.64	0.59919	P	0.000141	0.49130	D	0.085063	1	0.81001	D	2.75	0.80375	M	2.67	0.35775	T	-1.75	0.41428	N	0.565	0.58883	-0.8816	0.49634	T	0.162	0.49797	T	10	0.3372829	0.50853	T	0.028694	0.51333	D	0.154	0.40340	0.057	0.00169	0.673290731237	0.67052	0.14450706623451692	0.14373	.	.	0.408744990826	0.26283	T	0.058995	0.30995	T	-0.0489599	0.44606	T	-0.308104	0.43861	T	0.930219709873199	0.59478	D	0.869413	0.59928	D	0.16448002	0.36658	0.20729782	0.44982	0.16448002	0.36657	0.20729782	0.44982	-3.856	0.21644	T	.	.	0.096	0.33823	B	.;.;.;.	.;.;.;.	3.408129	0.47264	22.4	0.99882441669800304	0.95813	0.78196	0.38544	D	AEFBHCI	0.433621	0.49500	N	0.330785083233891	0.57735	3.942014	0.269580744998826	0.53771	3.544484	0.998582606468762	0.37247	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.85	3.97	0.45241	3.106000	0.50013	4.832000	0.45208	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.591000	0.31164	0.0:0.0:0.8455:0.1545	13.713	0.62160	609	0.67094	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	726.27	16	chr8	17715892	.	G	A	726.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.956;DP=157;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.63;ReadPosRankSum=-2.308;SOR=0.474	GT:AD:DP:GQ:PL	0/0:25,0:25:60:0,60,900	5	0	1	1
chr8	18868023	18868023	G	T	exonic	PSD3	.	nonsynonymous SNV	PSD3:NM_001362819:exon3:c.C1186A:p.L396I,PSD3:NM_015310:exon4:c.C1285A:p.L429I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.007236427777	0.0004	0.000199681	0.0001	0.0016	0	0	0	0	0	0	0.0001294	20	154602	rs181164284	6.638e-05	6.635e-05	7.353e-05	5.916e-05	0.0021	5.564e-05	5.154e-05	0.0017	0.0016	0.0021	8.957e-05	0	0	0	0.0002	2.698e-06	0.0003	2.323e-05	0.0007	0.0007	0.0008	0.0006	0.0023	0.0006	0.0005	0.0019	0.0018	0.0023	0	0.0002	0	0	0	0	2.94e-05	0.0009	0	0.003	0.68238	D	0.14	0.33554	T	.	.	.	.	.	.	0.037293	0.24419	N	0.294931	1	0.08975	N	1.625	0.41611	L	2.76	0.11622	T	-0.58	0.17417	N	0.48	0.51494	-1.0677	0.09926	T	0.035	0.15160	T	10	0.019435108	0.00434	T	0.007236	0.19198	T	0.066	0.19193	.	.	0.168254554758	0.16434	0.04038194735261915	0.03984	0.0683026046821	0.07650	0.400129914284	0.25087	T	0.042558	0.26220	T	-0.522125	0.00428	T	-0.52801	0.19487	T	0.0735943119637271	0.09146	T	0.706729	0.31713	T	0.101257645	0.23918	0.1013314	0.24255	0.101257645	0.23918	0.1013314	0.24254	-4.598	0.32184	T	.	.	0.077	0.15921	B	.;.;.	.;.;.	2.448140	0.31522	18.77	0.99068450841637645	0.51668	0.74543	0.36468	D	AEFBI	0.135931	0.25642	N	-0.0757183026143761	0.38459	2.252883	-0.19494428717942	0.31721	1.797914	0.992786145563748	0.32967	0.722319	0.85440	0	0.547309	0.14657	0	0.566861	0.19136	0	0.735409	0.98432	0	.	.	4.57	1.76	0.23776	2.404000	0.44192	2.055000	0.30365	0.618000	0.50648	1.000000	0.71638	0.966000	0.29516	0.623000	0.31974	0.2761:0.0:0.7239:0.0	8.075	0.29871	943	0.12886	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1198.83	35	chr8	18868023	.	G	T	1198.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.293;DP=259;ExcessHet=0;FS=0.85;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=0.37;SOR=0.574	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1157	6	0	1	0
chr8	20254844	20254844	A	G	exonic	LZTS1	.	nonsynonymous SNV	LZTS1:NM_001362884:exon2:c.T338C:p.L113P,LZTS1:NM_021020:exon2:c.T338C:p.L113P	Esophageal squamous cell carcinoma, Autosomal dominant	0	1480	40	2	0	44	0.0146471	.	.	.	700516	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.354	0.0338852554034	0.0042	0.00299521	0.0045	0.0018	0.0039	0	0.0012	0.0063	0.0097	0.0025	0.0042173	652	154602	rs149140637	0.0052	0.0052	0.0052	0.0052	0.0205	0.0051	0.0051	0.0174	0.0163	0.0014	0.0042	0.0098	2.53e-05	0.0011	0.0205	0.0057	0.0060	0.0026	0.0040	0.0040	0.0042	0.0037	0.0060	0.0037	0.0036	0.0054	0.0053	0.0009	0	0.0060	0.0086	0	0.0007	0.0238	0.0059	0.0071	0.0025	0.0	0.91255	D	0.006	0.72224	D	0.999	0.90584	D	0.997	0.86255	D	0.001091	0.40303	N	0.214448	1	0.81001	D	2.58	0.75369	M	1.5	0.38718	T	-6.1	0.89985	D	0.943	0.97095	-0.7837	0.56093	T	0.158	0.49094	T	10	0.027623683	0.00905	T	0.033885	0.55297	D	0.354	0.67510	.	.	0.727851885501	0.72544	0.6753901809164145	0.67477	1.45333928757	0.86201	0.656072795391	0.60848	T	0.730833	0.92465	D	-0.03033	0.47369	T	0.185991	0.82341	D	0.0231129870043957	0.01037	T	0.750125	0.37153	T	0.84184533	0.86741	0.88534963	0.93937	0.8476286	0.87162	0.87759364	0.93394	-3.407	0.16501	T	0.5592211443023262	0.62711	0.175	0.38372	B	.;.;.	.;.;.	4.700428	0.75409	26.3	0.99906978083547093	0.97726	0.98655	0.85198	D	AEFDBI	0.945211	0.95323	D	0.732674363139512	0.81776	7.601635	0.754891387983602	0.86523	8.916282	0.99999995257974	0.74766	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.530356	0.10902	0	.	.	6.02	6.02	0.97559	7.441000	0.79617	11.127000	0.86698	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	15.366	0.74238	944	0.12746	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.023666	0.015152	0.023098	0.040936	0.000000	0.017241	0.018293	0.018939	0.07143	903.53	38	chr8	20254844	.	A	G	903.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.17;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=0;SOR=0.602	GT:AD:DP:GQ:PL	0/1:31,32:63:99:914,0,808	6	0	1	0
chr8	21969497	21969497	G	T	exonic	XPO7	.	nonsynonymous SNV	XPO7:NM_001100161:exon3:c.G180T:p.Q60H,XPO7:NM_001362802:exon3:c.G180T:p.Q60H,XPO7:NM_015024:exon3:c.G180T:p.Q60H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.11781374991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.31987	T	0.161	0.32891	T	0.603	0.51194	P	0.468	0.54017	P	0.000043	0.53742	D	0.132275	1	0.81001	D	2.25	0.63811	M	-0.34	0.68474	T	-3.12	0.63782	D	0.739	0.74007	-0.1158	0.79732	T	0.421	0.76637	T	10	0.8155061	0.80793	D	0.117814	0.79769	D	0.503	0.78538	0.632	0.76810	0.664031197513	0.66121	0.9180845576219054	0.91784	1.49711821215	0.86978	0.751150250435	0.74616	T	0.26579	0.63768	T	0.311932	0.83891	D	0.210292	0.83681	D	0.957006931304932	0.64900	D	0.991001	0.97222	D	0.2631833	0.49382	0.22657618	0.47640	0.2631833	0.49382	0.22657618	0.47639	-10.249	0.75389	D	.	.	0.975	0.90360	P	.;.	.;.	4.268087	0.64919	24.8	0.997539229854433	0.84460	0.92266	0.55317	D	AEFBCI	0.683492	0.64616	D	0.417774013675022	0.62399	4.455231	0.440571212871786	0.64113	4.659243	0.999999829927551	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.51	4.64	0.57399	5.384000	0.65976	9.721000	0.81366	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0716:0.0:0.9284:0.0	14.592	0.67969	547	0.72440	Importin-beta, N-terminal domain|Importin-beta, N-terminal domain|Importin-beta, N-terminal domain;Importin-beta, N-terminal domain|Importin-beta, N-terminal domain|Importin-beta, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2377.44	35	chr8	21969497	.	G	T	2377.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.319;DP=391;ExcessHet=0;FS=0.534;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.407;SOR=0.614	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1400	6	0	1	0
chr8	22034526	22034528	AAG	-	exonic	NPM2	.	nonframeshift deletion	NPM2:NM_001286681:exon6:c.381_383del:p.R130del,NPM2:NM_182795:exon7:c.548_550del:p.E187del,NPM2:NM_001286680:exon8:c.548_550del:p.E187del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	2.485e-05	9.833e-05	8.64e-05	0	0	0	0	6.164e-05	1.94e-05	3	154602	rs770395794	1.781e-05	1.847e-05	2.045e-05	1.514e-05	0.0004	1.239e-05	1.053e-05	0.0002	0.0002	0.0004	2.242e-05	0	5.038e-05	0	0	7.203e-06	0	3.482e-05	6.569e-05	6.567e-05	0.0001	2.689e-05	0.0002	3.516e-05	2.616e-05	0.0001	9.936e-05	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1102.45	20	chr8	22034525	.	AAAG	A	1102.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.069;DP=214;ExcessHet=0;FS=2.498;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=22.5;ReadPosRankSum=-0.384;SOR=0.346	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	6	0	1	0
chr8	22156517	22156517	C	-	exonic	LGI3	.	frameshift deletion	LGI3:NM_139278:exon1:c.26delG:p.G9Afs*61	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs894404355	4.563e-05	0.0004	4.359e-05	4.779e-05	0.0002	3.589e-05	3.22e-05	6.369e-05	3.458e-05	0	0.0002	0.0001	3.608e-05	0.0001	0	3.753e-05	4.094e-05	0.0001	5.283e-05	5.257e-05	5.164e-05	5.408e-05	9.676e-05	2.569e-05	1.838e-05	3.255e-05	1.918e-05	9.676e-05	0	6.573e-05	0	0	9.573e-05	0	2.956e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	37.54	5	chr8	22156516	.	GC	G	37.54	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.645;DP=30;ExcessHet=0;FS=3.979;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.51;ReadPosRankSum=-1.645;SOR=0.061	GT:AD:DP:GQ:PL	0/0:8,0:8:24:0,24,265	5	0	1	1
chr8	22163910	22163910	G	C	exonic	SFTPC	.	nonsynonymous SNV	SFTPC:NM_001317779:exon4:c.G304C:p.A102P,SFTPC:NM_001172357:exon5:c.G445C:p.A149P,SFTPC:NM_001172410:exon5:c.G463C:p.A155P,SFTPC:NM_001317778:exon5:c.G445C:p.A149P,SFTPC:NM_001317780:exon5:c.G445C:p.A149P,SFTPC:NM_001385653:exon5:c.G463C:p.A155P,SFTPC:NM_003018:exon5:c.G463C:p.A155P,SFTPC:NM_001385660:exon6:c.G304C:p.A102P,SFTPC:NM_001385654:exon7:c.G463C:p.A155P,SFTPC:NM_001385655:exon7:c.G463C:p.A155P,SFTPC:NM_001385656:exon7:c.G445C:p.A149P,SFTPC:NM_001385657:exon7:c.G445C:p.A149P,SFTPC:NM_001385658:exon7:c.G445C:p.A149P,SFTPC:NM_001385659:exon7:c.G445C:p.A149P	Surfactant metabolism dysfunction, pulmonary, 2, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	304877	not_provided|not_specified|Interstitial_lung_disease_2|Surfactant_metabolism_dysfunction,_pulmonary,_2	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0800029,MedGen:C5561926,OMIM:178500,Orphanet:2032,Orphanet:79126|MONDO:MONDO:0024465,MedGen:C1970470,OMIM:610913	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.547	0.0545171781103	0.0002	0.000199681	0.0002	0	0.0002	0	0	0.0003	0	0.0004	0.0002199	34	154602	rs202145169	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	0	2.236e-05	0	0	0	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	0.0002	8.655e-05	7.248e-05	0.0001	8.875e-05	2.404e-05	0	0.0002	0	0	0	0	0.0002	0.0009	0.0002	0.157	0.28395	T	0.246	0.40586	T	.	.	.	.	.	.	0.872432	0.07184	N	1.067260	1	0.08975	N	.	.	.	-1.31	0.79666	T	-1.33	0.41428	N	0.1	0.19055	-0.9471	0.41465	T	0.237	0.60451	T	10	0.0447284	0.03463	T	0.054517	0.65885	D	0.547	0.81193	.	.	0.593515057505	0.59029	0.6145508798823447	0.61387	0.577822155158	0.53695	0.328964650631	0.14777	T	0.025483	0.19048	T	-0.16086	0.26629	T	-0.152684	0.59006	T	0.00790225081601422	0.00093	T	0.549445	0.19782	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.19478	B	.;.;.;.	.;.;.;.	1.142976	0.15306	11.75	0.90113081400050943	0.19394	0.08522	0.14440	N	AEFDBI	0.367566	0.45498	N	-1.09176565298304	0.06794	0.3137763	-1.14816901127425	0.06801	0.3286011	0.999843778089155	0.43971	0.59774	0.34471	0	0.596491	0.49125	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.98	-2.78	0.05512	-0.180000	0.09747	1.415000	0.26314	0.671000	0.69459	0.000000	0.06391	0.002000	0.18203	0.075000	0.16954	0.1872:0.1191:0.2051:0.4886	1.538	0.02395	555	0.71762	BRICHOS domain|BRICHOS domain|BRICHOS domain;BRICHOS domain|BRICHOS domain|BRICHOS domain;BRICHOS domain|BRICHOS domain|BRICHOS domain;BRICHOS domain|BRICHOS domain|BRICHOS domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1847.44	43	chr8	22163910	.	G	C	1847.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.37;DP=346;ExcessHet=0;FS=0.652;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-1.157;SOR=0.796	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1323	6	0	1	0
chr8	22616178	22616178	A	G	exonic	CCAR2	.	nonsynonymous SNV	CCAR2:NM_001363068:exon14:c.A1775G:p.E592G,CCAR2:NM_001363069:exon14:c.A1775G:p.E592G,CCAR2:NM_021174:exon14:c.A1775G:p.E592G	.	.	.	.	.	.	.	.	.	.	.	2718024	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.00968517890473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.121e-05	2.532e-05	0	0	0	0	0	0.0003	0	0	0	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.04	0.43708	D	0.331	0.20680	T	0.993	0.73220	D	0.88	0.69900	P	0.001463	0.38917	N	0.222000	0.946295	0.37522	D	1.59	0.40313	L	1.31	0.35590	T	-1.69	0.40274	N	0.341	0.40465	-0.8977	0.48224	T	0.133	0.44544	T	10	0.143569	0.27256	T	0.009685	0.25290	T	0.116	0.32463	0.15	0.05339	0.366479799498	0.36264	0.16753153353441064	0.16673	0.231541109432	0.25707	0.422649532557	0.28201	T	0.210339	0.57081	T	0.0243322	0.54962	T	-0.202825	0.54377	T	0.806934833526611	0.46832	D	0.730127	0.37198	T	0.1329791	0.30946	0.16923718	0.38942	0.1329791	0.30946	0.16923718	0.38941	-7.926	0.60565	D	.	.	0.078	0.08129	B	.;.;.;.	.;.;.;.	4.142517	0.62078	24.4	0.99910607130982099	0.98022	0.93573	0.58587	D	AEFGBCI	0.609545	0.59871	D	0.235187305652622	0.52910	3.462485	0.360204268652242	0.59126	4.087784	0.999999985108291	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.54	5.54	0.82907	2.515000	0.45172	8.984000	0.78497	0.756000	0.94297	0.993000	0.37899	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	13.680	0.61959	905	0.23532	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	593.53	35	chr8	22616178	.	A	G	593.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.238;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=-0.475;SOR=0.723	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr8	23436976	23436976	C	G	exonic	ENTPD4	.	nonsynonymous SNV	ENTPD4:NM_001128930:exon10:c.G1308C:p.M436I,ENTPD4:NM_004901:exon10:c.G1332C:p.M444I	.	435	1086	1	0	0	1	0.000460193	.	.	.	2245899	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.214	0.00807869709529	0.0002	0.000199681	3.395e-05	0.0003	0	0.0001	0	0	0	0	3.23e-05	5	154602	rs142210988	1.165e-05	1.163e-05	1.227e-05	1.102e-05	0.0003	7.1e-06	5.8e-06	6.111e-05	2.528e-05	6.005e-05	2.253e-05	0	0	1.874e-05	0.0003	3.601e-06	0.0001	0	9.192e-05	9.186e-05	0.0001	8.056e-05	0.0003	5.523e-05	4.361e-05	0.0001	0.0001	0.0003	0	0	0	0.0002	0	0	2.94e-05	0	0	0.162	0.23541	T	0.459	0.12632	T	0.003	0.12996	B	0.01	0.14941	B	0.000000	0.84330	D	0.070413	0.999979	0.53665	D	0.76	0.19266	N	2.86	0.10482	T	-0.31	0.12099	N	0.265	0.30004	-0.9964	0.30919	T	0.022	0.09421	T	10	0.12147683	0.23029	T	0.008079	0.21418	T	0.214	0.50650	0.779	0.90388	0.243398259712	0.23965	0.8381391443499938	0.83773	0.118335029965	0.13327	0.629859685898	0.57125	T	0.006257	0.25883	T	-0.32497	0.06498	T	-0.467905	0.25742	T	0.0677768960595131	0.08336	T	0.584142	0.22366	T	0.24745442	0.47723	0.15833303	0.36980	0.24745442	0.47723	0.15833303	0.36979	-9.737	0.73093	D	.	.	0.399	0.60019	A	.;.;.;.	.;.;.;.	2.435279	0.31337	18.71	0.98611652201671696	0.43651	0.94895	0.62702	D	AEFBI	0.406246	0.47881	N	-0.189520528498247	0.33568	1.906015	0.0392119989499814	0.41555	2.498385	0.991428356656454	0.32484	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.59	5.59	0.84677	2.579000	0.45725	4.036000	0.41382	-0.172000	0.11096	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:1.0:0.0:0.0	18.144	0.89582	807	0.43470	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	721.44	84	chr8	23436976	.	C	G	721.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.398;DP=288;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.59;ReadPosRankSum=2.31;SOR=0.748	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	6	0	1	0
chr8	25506827	25506827	C	T	exonic	CDCA2	.	nonsynonymous SNV	CDCA2:NM_001317906:exon14:c.C2116T:p.R706C,CDCA2:NM_152562:exon15:c.C2161T:p.R721C	.	.	.	.	.	.	.	.	.	.	.	3425214	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.0129548661692	0.0010	0.000599042	0.0007	0.0020	0.0004	0	0.0002	0.0007	0.0045	0.0004	0.0006145	95	154602	rs73550864	0.0004	0.0004	0.0003	0.0004	0.0035	0.0003	0.0003	0.0023	0.0019	0.0016	0.0003	0.0018	0	9.365e-05	0.0035	0.0003	0.0009	0.0005	0.0005	0.0005	0.0006	0.0004	0.0009	0.0004	0.0004	0.0007	0.0006	0.0009	0	0.0003	0.0012	0	0	0	0.0003	0.0014	0.0006	0.096	0.31834	T	0.138	0.34716	T	0.067	0.23653	B	0.006	0.12133	B	0.511513	0.05149	N	1.257310	1	0.08975	N	0	0.06538	N	1.47	0.31987	T	-1.56	0.37759	N	0.053	0.03175	-1.0224	0.22932	T	0.040	0.17020	T	10	0.0053226054	0.00117	T	0.012955	0.31963	T	0.022	0.04323	.	.	0.344251166708	0.34027	0.20876414522789727	0.20792	0.138224808436	0.15579	0.20507876575	0.00619	T	0.005638	0.11803	T	-0.587662	0.00173	T	-0.652291	0.08794	T	0.00884091737204419	0.00109	T	0.653235	0.26349	T	0.08120971	0.18648	0.042235732	0.04983	0.08120971	0.18648	0.042235732	0.04983	-4.02	0.24102	T	.	.	0.094	0.21803	B	.;.	.;.	1.360468	0.17692	13.31	0.67294041449480724	0.08312	0.03567	0.08776	N	AEFBI	0.081223	0.16433	N	-0.939428263997108	0.09931	0.4722732	-0.923687729686735	0.11535	0.5882812	0.999733814309829	0.42341	0.732398	0.92422	0	0.724815	0.89359	0	0.688494	0.62686	0	0.727631	0.95156	0	.	.	5.07	1.87	0.24559	0.207000	0.17194	-0.002000	0.13189	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.066000	0.16387	0.0:0.4885:0.3913:0.1202	5.931	0.18375	925	0.17918	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.000000	0.013587	0.002924	0.000000	0.000000	0.003049	0.000000	0.08333	808.27	35	chr8	25506827	.	C	T	808.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.23;DP=232;ExcessHet=0;FS=5.105;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-1.234;SOR=0.535	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	1
chr8	27966483	27966483	G	C	exonic	SCARA5	.	nonsynonymous SNV	SCARA5:NM_173833:exon3:c.C172G:p.L58V	.	428	1089	5	0	0	5	0.00229043	.	.	.	2353403	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.454	0.115297236786	0.0002	.	0.0002	0	0	0	0	0.0003	0	6.098e-05	0.0001552	24	154602	rs371870933	0.0001	0.0001	0.0001	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	2.989e-05	0.0002	0	0	0	0.0009	0.0002	0.0002	1.16e-05	0.0001	0.0001	0.0001	0.0001	0.0002	7.091e-05	5.747e-05	0.0001	0.0001	0	0	6.541e-05	0	0	0	0	0.0002	0.0005	0	0.032	0.91255	D	0.049	0.92824	D	0.993	0.68779	D	0.967	0.76916	D	0.000307	0.45977	D	0.086312	0.828126	0.81001	D	1.78	0.46185	L	-2.63	0.92560	D	-0.85	0.30346	N	0.548	0.68255	0.734	0.93593	D	0.829	0.94267	D	10	0.37156403	0.53515	T	0.115297	0.79443	D	0.454	0.75347	.	.	0.932167581305	0.93147	0.17828296572888033	0.17747	0.893293377609	0.70316	0.617692172527	0.55403	T	0.122164	0.44564	T	-0.0676753	0.41698	T	-0.0346634	0.68059	D	0.122882987277879	0.14709	T	0.853715	0.60217	D	0.13859396	0.32047	0.13104351	0.31474	0.13859396	0.32046	0.13104351	0.31473	-6.817	0.62047	T	.	.	0.169	0.37140	B	.;.;.	.;.;.	4.171647	0.62732	24.5	0.99808274223895543	0.89264	0.83422	0.42540	D	AEFBI	0.361208	0.45090	N	0.65735608674633	0.76844	6.562284	0.641340609668063	0.77965	6.782486	0.998851717101332	0.37823	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.93	5.05	0.67566	2.596000	0.45870	5.043000	0.46929	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.991000	0.66497	0.0848:0.0:0.9152:0.0	11.405	0.49136	756	0.51065	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.025862	0.000000	0.000000	0.07143	317.63	40	chr8	27966483	.	G	C	317.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.476;DP=204;ExcessHet=0;FS=4.756;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.94;ReadPosRankSum=1.23;SOR=0.669	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1020	6	0	1	0
chr8	28029334	28029334	G	A	exonic	NUGGC	.	nonsynonymous SNV	NUGGC:NM_001010906:exon17:c.C2086T:p.R696W	.	415	1094	13	0	0	13	0.00590641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	.	0.0008	0.00279553	0.0027	0.0005	0.0054	0	0.0029	0.0015	0.0096	0.0084	0.0020828	322	154602	rs200971147	0.0015	0.0015	0.0013	0.0017	0.0081	0.0015	0.0015	0.0076	0.0074	0.0001	0.0033	0.0009	2.526e-05	0.0032	0.0059	0.0010	0.0016	0.0081	0.0015	0.0015	0.0014	0.0016	0.0084	0.0013	0.0013	0.0063	0.0056	0.0001	0	0.0021	0.0035	0	0.0038	0	0.0014	0.0014	0.0084	0.017	0.51248	D	0.0	0.92824	D	0.998	0.73220	D	0.609	0.51053	P	0.083098	0.20772	N	0.476548	0.530492	0.31495	N	2.19	0.61577	M	2.35	0.16217	T	-2.86	0.60188	D	0.49	0.52386	-1.0457	0.15621	T	0.040	0.17191	T	10	0.0072264373	0.00164	T	.	.	.	0.112	0.31546	.	.	0.59589940523	0.59269	0.236100240792046	0.23525	0.366078253809	0.38189	0.307676851749	0.11556	T	0.070758	0.34041	T	-0.45371	0.01074	T	-0.419654	0.31115	T	0.0311100688441246	0.02164	T	0.511749	0.16382	T	0.07774786	0.17664	0.09231025	0.21749	0.07774786	0.17664	0.09231025	0.21748	-6.549	0.50663	T	.	.	0.116	0.23325	B	.	.	4.735803	0.76327	26.5	0.99921708139172249	0.98787	0.55350	0.29842	D	AEFDBI	0.459069	0.50983	N	0.281884511151786	0.55230	3.687214	0.298831216429642	0.55472	3.710143	0.50181484471757	0.20949	0.623552	0.39893	0	0.659912	0.62753	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.56	3.53	0.39533	2.535000	0.45343	4.778000	0.44817	0.676000	0.76740	0.820000	0.29989	1.000000	0.68203	0.993000	0.69303	0.0:0.1587:0.593:0.2483	7.050	0.24244	785	0.46916	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	830.45	49	chr8	28029334	.	G	A	830.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.349;DP=223;ExcessHet=0;FS=1.191;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.95;ReadPosRankSum=-2.091;SOR=0.452	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1156	6	0	1	0
chr8	31080997	31080997	A	G	exonic	WRN	.	nonsynonymous SNV	WRN:NM_000553:exon9:c.A970G:p.T324A	Werner syndrome, Autosomal recessive	1	1464	56	1	0	58	0.019424	.	.	YES	139188	Wiskott-Aldrich_syndrome|Werner_syndrome|not_specified|not_provided|Malignant_tumor_of_breast	MONDO:MONDO:0010518,MedGen:C0043194,OMIM:301000,Orphanet:906|MONDO:MONDO:0010196,MedGen:C0043119,OMIM:277700,Orphanet:902|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007254,MedGen:C0006142	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.018	0.00505079907063	0.0030	0.00299521	0.0036	0.0008	0.0019	0.0006	0.0002	0.0037	0.0044	0.0091	0.0035252	545	154602	rs1800390	0.0034	0.0034	0.0032	0.0035	0.0168	0.0033	0.0033	0.0141	0.0131	0.0009	0.0027	0.0031	5.045e-05	0.0001	0.0168	0.0032	0.0043	0.0090	0.0027	0.0027	0.0024	0.0030	0.0085	0.0025	0.0024	0.0064	0.0057	0.0009	0	0.0033	0.0026	0.0002	0.0002	0.0068	0.0038	0.0038	0.0085	0.359	0.11957	T	0.432	0.13634	T	0.003	0.11197	B	0.004	0.10090	B	0.286245	0.03865	N	1.445540	1	0.08975	N	0.075	0.08292	N	1.0	0.41392	T	-0.85	0.23156	N	0.026	0.00527	-1.0313	0.20034	T	0.056	0.23753	T	10	0.0030954778	0.00051	T	0.005051	0.12784	T	0.018	0.03083	.	.	0.214338557667	0.21045	0.14327334679901807	0.14250	0.0637302715162	0.07097	0.230082198977	0.01974	T	0.102429	0.41014	T	-0.67586	0.00051	T	-0.737063	0.04015	T	0.00531589299191147	0.00057	T	0.305869	0.05863	T	0.022202376	0.00867	0.0239113	0.00404	0.022202376	0.00867	0.0239113	0.00404	-3.795	0.20730	T	.	.	0.064	0.01715	B	.	.	-1.003236	0.00766	0.024	0.55756443819337698	0.05409	0.01764	0.05543	N	AEFDBI	0.019684	0.00706	N	-1.35196350224658	0.03105	0.1381541	-1.4355450691311	0.02904	0.1344473	0.488924830504959	0.20846	0.732398	0.92422	0	0.709663	0.81188	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.46	-6.52	0.01703	-1.501000	0.02385	-1.533000	0.05227	-0.589000	0.04658	0.000000	0.06391	0.000000	0.08366	0.221000	0.22489	0.4115:0.0:0.4829:0.1056	9.139	0.36052	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.015609	0.015152	0.013587	0.020468	0.000000	0.017241	0.009146	0.030303	0.07143	56.44	33	chr8	31080997	.	A	G	56.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.83;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=-0.431;SOR=0.693	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	6	0	1	0
chr8	33592032	33592032	C	T	exonic	DUSP26	.	nonsynonymous SNV	DUSP26:NM_001305116:exon3:c.G617A:p.R206Q,DUSP26:NM_001305115:exon4:c.G617A:p.R206Q,DUSP26:NM_024025:exon4:c.G617A:p.R206Q	.	423	1079	20	0	0	20	0.00918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	.	0.0042	0.00299521	0.0078	0.0008	0.0237	0.0017	0.0083	0.0064	0.0111	0.0096	0.007128	1102	154602	rs144929688	0.0064	0.0064	0.0062	0.0065	0.0187	0.0062	0.0062	0.0176	0.0172	0.0007	0.0187	0.0018	0.0015	0.0094	0.0044	0.0059	0.0052	0.0105	0.0058	0.0058	0.0050	0.0066	0.0140	0.0055	0.0053	0.0125	0.0119	0.0014	0.0143	0.0140	0.0020	0.0037	0.0085	0.0102	0.0063	0.0028	0.0085	0.245	0.17410	T	0.524	0.10317	T	0.995	0.67487	D	0.846	0.60472	P	0.009268	0.30438	N	0.302728	0.998217	0.44638	D	0.415	0.12483	N	0.16	0.60610	T	-0.91	0.24460	N	0.411	0.45142	-0.9003	0.47962	T	0.132	0.44445	T	10	0.0071424246	0.00162	T	.	.	.	0.173	0.43840	.	.	0.852236254791	0.85081	0.7260099008780219	0.72544	0.565652636351	0.52896	0.457296043634	0.32940	T	0.034618	0.23393	T	-0.330154	0.06101	T	-0.230763	0.51698	T	0.014204565970665	0.00280	T	0.758824	0.38273	T	0.42837644	0.62646	0.23189811	0.48335	0.42837644	0.62646	0.23189811	0.48334	-5.738	0.44031	T	.	.	0.112	0.25034	B	.;.	.;.	3.952577	0.57911	23.9	0.99655955644390981	0.77631	0.96912	0.71619	D	AEFDBCI	0.928929	0.91391	D	0.444090876967139	0.63867	4.629105	0.473415853926189	0.66234	4.925591	0.994686813683884	0.33752	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.8	4.8	0.61157	5.223000	0.65114	5.993000	0.52362	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	16.002	0.80097	830	0.39242	Dual specificity protein phosphatase domain;Dual specificity protein phosphatase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.006793	0.002924	0.000000	0.000000	0.006098	0.011364	0.07143	554.46	48	chr8	33592032	.	C	T	554.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.51;DP=224;ExcessHet=0;FS=6.502;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-1.882;SOR=1.84	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	6	0	1	0
chr8	36909341	36909341	C	T	exonic	KCNU1	.	nonsynonymous SNV	KCNU1:NM_001031836:exon21:c.C2137T:p.R713W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.00987097366335	0.0007	0.000199681	0.0002	0.0023	0	0	0	2.998e-05	0.0011	0	0.0001746	27	154602	rs199759602	7.802e-05	7.935e-05	8.444e-05	7.153e-05	0.0019	6.602e-05	6.145e-05	0.0015	0.0014	0.0019	0.0003	0	2.519e-05	0	0.0003	1.979e-05	0.0001	3.479e-05	0.0007	0.0007	0.0008	0.0007	0.0025	0.0006	0.0006	0.0021	0.0019	0.0025	0	0.0004	0	0.0002	0	0	2.94e-05	0	0	0.024	0.47745	D	0.02	0.58613	D	0.086	0.24919	B	0.012	0.16012	B	0.646924	0.10548	U	0.758151	0.992539	0.23867	N	2.045	0.56016	M	1.46	0.32238	T	-3.27	0.65512	D	0.505	0.53708	-1.0797	0.07407	T	0.084	0.32786	T	10	0.030563802	0.01184	T	0.009871	0.25720	T	0.140	0.37593	.	.	0.467329424371	0.46359	0.46455425240868475	0.46374	0.141824913144	0.15982	0.252690017223	0.04056	T	0.41373	0.76750	T	-0.450202	0.01126	T	-0.422511	0.30788	T	0.0444590806435604	0.04504	T	0.831217	0.49813	T	0.2653083	0.49599	0.15532877	0.36416	0.2653083	0.49599	0.15532877	0.36415	-6.727	0.52013	T	.	.	0.128	0.27373	B	.	.	3.719874	0.53147	23.3	0.99784235292498957	0.87043	0.59035	0.30804	D	AEFI	0.197742	0.32464	N	-0.3140031535889	0.28616	1.579812	-0.2086992592535	0.31223	1.764982	0.995976309526551	0.34444	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.8	4.93	0.64394	3.077000	0.49787	3.234000	0.36926	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.020000	0.11549	0.0:0.9241:0.0:0.0759	12.823	0.57087	793	0.45818	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	209.44	36	chr8	36909341	.	C	T	209.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.66;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=-1.14;SOR=0.593	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1316	6	0	1	0
chr8	37872259	37872259	G	A	exonic	RAB11FIP1	.	nonsynonymous SNV	RAB11FIP1:NM_001002814:exon4:c.C2543T:p.A848V	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.0036525670642	0.0038	0.00219649	0.0028	0.0013	0.0015	0	0.0012	0.0042	0.0033	0.0010	0.002846	440	154602	rs139234262	0.0037	0.0037	0.0037	0.0038	0.0044	0.0037	0.0036	0.0043	0.0042	0.0010	0.0015	0.0034	2.519e-05	0.0016	0.0017	0.0044	0.0035	0.0011	0.0030	0.0030	0.0030	0.0029	0.0045	0.0027	0.0026	0.0041	0.0040	0.0014	0	0.0027	0.0032	0	0.0013	0	0.0045	0.0024	0.0021	1.0	0.00964	T	0.614	0.07592	T	0.0	0.02946	B	0.0	0.01387	B	0.000912	0.00708	N	3.533280	1	0.08975	N	0.345	0.11182	N	2.97	0.09450	T	0.27	0.04306	N	0.028	0.00618	-0.9832	0.34258	T	0.007	0.02558	T	10	0.0038850307	0.00074	T	0.003653	0.08402	T	0.006	0.00375	.	.	0.24896430686	0.24499	0.07335936095569658	0.07272	0.0710322855299	0.07957	0.252858519554	0.04074	T	0.001423	0.00883	T	-0.771232	0.00013	T	-0.879782	0.00656	T	0.00342617010551455	0.00036	T	0.327667	0.06803	T	0.020127866	0.00561	0.037162513	0.03312	0.020127866	0.00560	0.037162513	0.03312	-3.55	0.17139	T	.	.	0.083	0.09191	B	.	.	-2.028296	0.00095	0.002	0.43184151906932011	0.03234	0.02189	0.06400	N	AEFBCI	0.030200	0.02996	N	-1.80112287585399	0.00542	0.0233553	-1.83928559824755	0.00641	0.02850928	0.999999769970526	0.74766	0.460665	0.09802	0	0.552637	0.17590	0	0.575934	0.27490	0	0.613276	0.41899	0	.	.	5.4	-7.53	0.01194	-2.790000	0.00837	-2.786000	0.03362	-0.633000	0.04490	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2816:0.1198:0.4815:0.1171	4.879	0.13026	799	0.44747	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1981.45	33	chr8	37872259	.	G	A	1981.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.538;DP=351;ExcessHet=0;FS=0.564;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-2.074;SOR=0.763	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1203	6	0	1	0
chr8	38105674	38105674	C	T	exonic	ASH2L	.	nonsynonymous SNV	ASH2L:NM_004674:exon1:c.C124T:p.P42S	.	387	1126	9	0	0	9	0.00398054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.0218130502301	7.7e-05	.	0.0002	0	9.094e-05	0	0	5.083e-05	0	0.0013	0.0001488	23	154602	rs367605367	7.031e-05	7.319e-05	4.702e-05	9.391e-05	0.0010	5.881e-05	5.486e-05	0.0005	0.0004	0	0.0004	4.103e-05	0	0	0.0010	1.726e-05	0.0001	0.0006	0.0001	0.0001	0.0001	0.0001	0.0007	8.665e-05	7.257e-05	0.0004	0.0003	2.412e-05	0	0.0007	0.0003	0	0	0	7.349e-05	0.0010	0.0002	0.075	0.41915	T	0.227	0.25362	T	0.075	0.24198	B	0.027	0.21085	B	0.340980	0.13964	N	0.710208	0.999383	0.46865	D	1.245	0.31408	L	-0.02	0.62918	T	-0.48	0.15379	N	0.114	0.10198	-0.9991	0.30171	T	0.138	0.45545	T	10	0.019585103	0.00439	T	0.021813	0.44628	T	0.039	0.10176	.	.	0.284112513307	0.28011	0.2041916935709072	0.20336	0.0113752822125	0.01063	0.542414963245	0.44786	T	0.116386	0.43569	T	-0.390668	0.02663	T	-0.420674	0.30999	T	0.0432792604497326	0.04289	T	0.671933	0.28057	T	0.057558633	0.11469	0.12123233	0.29251	0.057377696	0.11411	0.11232863	0.27102	-3.668	0.18847	T	.	.	0.058	0.05060	B	.;.	.;.	2.083031	0.26494	17.14	0.99858047024745122	0.93639	0.18120	0.20128	N	ALL	0.070839	0.14078	N	-0.71952635335122	0.15473	0.7801015	-0.689708336030547	0.17217	0.9145062	0.999999999999968	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.94	4.07	0.46726	1.286000	0.32877	0.163000	0.15428	0.599000	0.40250	0.019000	0.19563	0.001000	0.17328	0.006000	0.07323	0.0:0.9018:0.0:0.0982	9.597	0.38743	172	0.93355	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	465.27	36	chr8	38105674	.	C	T	465.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.516;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-0.235;SOR=0.54	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1141	5	0	1	1
chr8	38428395	38428395	-	TCA	exonic	FGFR1	.	nonframeshift insertion	FGFR1:NM_001174066:exon3:c.131_132insTGA:p.D44_S45insD,FGFR1:NM_001354368:exon3:c.131_132insTGA:p.D44_S45insD,FGFR1:NM_001354370:exon3:c.131_132insTGA:p.D44_S45insD,FGFR1:NM_023105:exon3:c.131_132insTGA:p.D44_S45insD,FGFR1:NM_023106:exon3:c.131_132insTGA:p.D44_S45insD,FGFR1:NM_001174063:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_001174065:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_001354367:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_001354369:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_015850:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_023110:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_001174064:exon5:c.374_375insTGA:p.D125_S126insD,FGFR1:NM_001174067:exon5:c.497_498insTGA:p.D166_S167insD	Encephalocraniocutaneous lipomatosis, Somatic mosaicism;Hartsfield syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 2 with or without anosmia, Autosomal dominant;Jackson-Weiss syndrome, Autosomal dominant;Osteoglophonic dysplasia, Autosomal dominant;Pfeiffer syndrome, Autosomal dominant;Trigonocephaly 1, Autosomal dominant	0	224	1	1	0	3	0.00665188	.	.	.	438386	Hypogonadotropic_hypogonadism_2_with_or_without_anosmia|Pfeiffer_syndrome|Mendelian_syndromes_with_cleft_lip/palate|not_provided	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950,Orphanet:478|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600,Orphanet:710|MedGen:C5680616,Orphanet:139039|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0.0002	0	0	0.0003	0	0.0005	0.0001153	3	26028	rs776622310	0.0001	0.0002	0.0001	0.0002	0.0003	0.0001	0.0001	0.0003	0.0002	8.964e-05	0.0002	0	2.52e-05	7.489e-05	0.0002	0.0001	0.0001	0.0003	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	9.623e-05	0	0.0001	0	0	0	0	0.0003	0.0009	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	596.23	23	chr8	38428395	.	G	GTCA	596.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.946;DP=184;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=25.92;ReadPosRankSum=0.841;SOR=0.818	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1142	5	0	1	1
chr8	39233925	39233925	G	A	exonic	ADAM32	.	nonsynonymous SNV	ADAM32:NM_001313994:exon13:c.G1364A:p.C455Y,ADAM32:NM_145004:exon16:c.G1661A:p.C554Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.473	0.0364457869202	.	.	2.691e-05	0	0	0	0	0	0	0.0002	1.29e-05	2	154602	rs749379276	4.201e-06	1.026e-05	1.391e-06	7.051e-06	6.34e-05	1.51e-06	9.9e-07	2.452e-05	1.545e-05	0	0	0	0	0	0	0	1.696e-05	6.34e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.90584	D	0.985	0.97372	D	0.002672	0.36137	N	0.000000	0.901766	0.36189	D	3.785	0.95291	H	-0.05	0.63403	T	-8.64	0.98901	D	0.941	0.96871	0.508	0.90659	D	0.554	0.83700	D	10	0.98953485	0.99422	D	0.036446	0.56996	D	0.473	0.76619	0.952	0.99447	0.899473973881	0.89847	0.993075786161504	0.99303	0.419090033863	0.42465	0.700534820557	0.67221	T	0.279582	0.65226	T	0.16387	0.70558	D	0.252657	0.85746	D	0.996899962425232	0.90310	D	0.80392	0.46506	T	0.89167386	0.90651	0.88219565	0.93716	0.89167386	0.90652	0.88219565	0.93716	-11.02	0.79768	D	.	.	0.998	0.98765	P	.;.;.	.;.;.	4.938443	0.81482	27.6	0.98993989966610252	0.50003	0.96289	0.68414	D	AEFDBI	0.712512	0.66561	D	0.787735946978125	0.85331	8.544575	0.641711907150502	0.77994	6.787914	0.996245461131594	0.34617	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	4.91	4.91	0.63897	4.964000	0.63410	11.814000	0.97026	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.436000	0.27583	0.0:0.0:1.0:0.0	13.469	0.60724	824	0.40336	ADAM, cysteine-rich|ADAM, cysteine-rich;ADAM, cysteine-rich|ADAM, cysteine-rich;ADAM, cysteine-rich|ADAM, cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	555.45	37	chr8	39233925	.	G	A	555.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.52;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=1.26;SOR=0.811	GT:AD:DP:GQ:PL	0/1:34,25:59:99:566,0,795	6	0	1	0
chr8	42154959	42154959	A	T	exonic	AP3M2	.	nonsynonymous SNV	AP3M2:NM_006803:exon2:c.A272T:p.Q91L,AP3M2:NM_001134296:exon3:c.A272T:p.Q91L	.	.	.	.	.	.	.	.	0.9990	0.986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.410	0.112274529167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	0.17410	T	0.235	0.28120	T	0.131	0.27154	B	0.091	0.29943	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.57	0.75187	M	-1.05	0.76690	T	-1.32	0.51319	N	0.633	0.64648	-0.3000	0.74985	T	0.441	0.77915	T	10	0.41049933	0.56191	T	0.112275	0.79036	D	0.410	0.72176	0.438	0.49157	0.855344975037	0.85394	0.6664741659662489	0.66585	0.398304115663	0.40896	0.80283677578	0.82396	T	0.234672	0.65794	T	0.0767851	0.61661	D	-0.12748	0.61182	T	0.885309994220734	0.53562	D	0.844016	0.73169	T	0.24393022	0.47337	0.13228132	0.31748	0.24393022	0.47337	0.13228132	0.31747	-4.593	0.32083	T	.	.	0.111	0.21913	B	.;.;.;.;.	.;.;.;.;.	4.368700	0.67236	25.1	0.98533538811462773	0.42620	0.94261	0.60606	D	ALL	0.798600	0.72510	D	0.168182210946349	0.49676	3.165307	0.293434411423406	0.55153	3.678883	1.0	0.98316	0.730579	0.87903	0	0.52208	0.09955	0	0.65145	0.50148	0	0.648885	0.59868	0	.	.	5.29	5.29	0.74430	7.042000	0.76286	11.232000	0.90136	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	15.240	0.73159	451	0.79296	AP complex, mu/sigma subunit;AP complex, mu/sigma subunit;AP complex, mu/sigma subunit;AP complex, mu/sigma subunit;AP complex, mu/sigma subunit	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	27	chr8	42154959	.	A	T	33.22	.	AC=2;AF=0.143;AN=14;DP=178;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1049	6	1	0	0
chr8	42887752	42887752	G	A	exonic	RNF170	.	nonsynonymous SNV	RNF170:NM_001160223:exon2:c.C113T:p.A38V,RNF170:NM_001160224:exon2:c.C113T:p.A38V,RNF170:NM_030954:exon2:c.C113T:p.A38V	Ataxia, sensory, 1, autosomal dominant, Autosomal dominant	1	1496	24	1	0	26	0.00861498	.	.	.	2840666	not_provided|RNF170-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.266	0.0649681256952	0.0008	0.000399361	0.0012	9.61e-05	0.0003	0.0001	0	0.0008	0	0.0055	0.0010867	168	154602	rs148611952	0.0014	0.0014	0.0012	0.0016	0.0059	0.0013	0.0013	0.0054	0.0053	0.0002	0.0003	0	0	3.744e-05	0.0029	0.0013	0.0011	0.0059	0.0008	0.0008	0.0008	0.0009	0.0062	0.0007	0.0007	0.0045	0.0039	0.0002	0	0.0003	0	0	0	0	0.0012	0.0014	0.0062	0.055	0.91255	T	0.015	0.61642	D	0.42	0.35330	B	0.098	0.30479	B	0.000001	0.84330	D	0.096186	0.999321	0.81001	D	1.7	0.43825	L	-1.85	0.84267	D	-1.16	0.55339	N	0.729	0.73015	-0.0630	0.80929	T	0.474	0.79826	T	10	0.0074149966	0.00169	T	0.064968	0.69439	D	0.266	0.57999	.	.	0.381939241115	0.37810	0.4175897230405353	0.41674	0.351719312492	0.37009	0.642617344856	0.58936	T	0.031045	0.21860	T	-0.199945	0.20812	T	-0.0579258	0.66477	T	0.0154213309431707	0.00346	T	0.907809	0.67374	D	0.31560427	0.54266	0.14893734	0.35187	0.3608555	0.57901	0.18431382	0.41474	-4.193	0.41331	T	.	.	0.113	0.33226	B	.;.;.;.;.;.	.;.;.;.;.;.	3.813450	0.55018	23.6	0.99700641358329467	0.80591	0.84384	0.43466	D	ALL	0.467876	0.51492	N	0.176347385696202	0.50065	3.200178	0.328010914027841	0.57191	3.884102	0.999999999999239	0.74766	0.839682	0.99964	0	0.736553	0.95680	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.68	5.68	0.88021	3.571000	0.53586	8.544000	0.77503	0.592000	0.32167	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1397:0.8603:0.0	15.283	0.73507	295	0.88218	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.07143	945.45	34	chr8	42887752	.	G	A	945.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.457;DP=274;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=-1.924;SOR=0.66	GT:AD:DP:GQ:PL	0/1:51,45:96:99:956,0,1272	6	0	1	0
chr8	47440392	47440392	T	A	exonic	SPIDR	.	nonsynonymous SNV	SPIDR:NM_001352945:exon4:c.T221A:p.M74K,SPIDR:NM_001352941:exon5:c.T431A:p.M144K,SPIDR:NM_001352944:exon5:c.T431A:p.M144K,SPIDR:NM_001352953:exon5:c.T14A:p.M5K,SPIDR:NM_001352956:exon5:c.T14A:p.M5K,SPIDR:NM_001352939:exon6:c.T455A:p.M152K,SPIDR:NM_001352942:exon6:c.T290A:p.M97K,SPIDR:NM_001352952:exon6:c.T14A:p.M5K,SPIDR:NM_001352955:exon6:c.T14A:p.M5K,SPIDR:NM_001352957:exon6:c.T14A:p.M5K,SPIDR:NM_001282916:exon7:c.T737A:p.M246K,SPIDR:NM_001352935:exon7:c.T737A:p.M246K,SPIDR:NM_001352936:exon7:c.T737A:p.M246K,SPIDR:NM_001352938:exon7:c.T455A:p.M152K,SPIDR:NM_001352940:exon7:c.T455A:p.M152K,SPIDR:NM_001352943:exon7:c.T455A:p.M152K,SPIDR:NM_001352946:exon7:c.T197A:p.M66K,SPIDR:NM_001352948:exon7:c.T197A:p.M66K,SPIDR:NM_001352950:exon7:c.T455A:p.M152K,SPIDR:NM_001352951:exon7:c.T197A:p.M66K,SPIDR:NM_001080394:exon8:c.T947A:p.M316K,SPIDR:NM_001282919:exon8:c.T767A:p.M256K,SPIDR:NM_001352931:exon8:c.T947A:p.M316K,SPIDR:NM_001352932:exon8:c.T827A:p.M276K,SPIDR:NM_001352933:exon8:c.T767A:p.M256K,SPIDR:NM_001352934:exon8:c.T947A:p.M316K,SPIDR:NM_001352937:exon8:c.T767A:p.M256K,SPIDR:NM_001352947:exon8:c.T197A:p.M66K,SPIDR:NM_001352961:exon8:c.T947A:p.M316K,SPIDR:NM_001352949:exon9:c.T290A:p.M97K	.	427	1093	2	0	0	2	0.000914077	.	.	.	711551	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.131	0.00408169897264	0.0030	0.000599042	0.0024	0.0003	0.0017	0	0.0003	0.0035	0.0033	0.0015	0.0025291	391	154602	rs201125764	0.0037	0.0037	0.0037	0.0037	0.0044	0.0036	0.0036	0.0043	0.0042	0.0006	0.0021	0.0034	0	0.0002	0.0029	0.0044	0.0037	0.0016	0.0027	0.0027	0.0031	0.0022	0.0046	0.0025	0.0024	0.0042	0.0041	0.0005	0.0033	0.0024	0.0026	0	9.413e-05	0	0.0046	0.0047	0.0019	0.753	0.49117	T	0.073	0.56640	T	0.589	0.39027	P	0.142	0.33681	B	0.817273	0.09206	N	0.922560	0.995334	0.23316	N	1.01	0.25309	L	.	.	.	-2.12	0.62976	N	0.551	0.62696	-1.0497	0.14481	T	0.051	0.21689	T	9	0.009545952	0.00215	T	0.004082	0.09744	T	0.131	0.35738	.	.	0.0297737177859	0.01360	0.4801162512170496	0.47931	0.0936337207164	0.10573	.	.	.	0.040109	0.40155	T	-0.332179	0.05948	T	-0.249388	0.49878	T	0.014863578150471	0.00314	T	0.764224	0.39120	T	0.24582146	0.47544	0.19559357	0.43244	0.24582146	0.47544	0.19559357	0.43243	-11.563	0.82658	D	.	.	0.185	0.41888	B	.;.;.;.	.;.;.;.	2.094403	0.26643	17.19	0.92998129411742081	0.22586	0.51761	0.28971	D	AEFGBCI	0.058647	0.11018	N	-0.395647200648025	0.25624	1.392326	-0.323757267223649	0.27334	1.515969	0.999999975027504	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.7	3.33	0.37245	0.924000	0.28378	0.490000	0.18893	0.665000	0.62972	0.988000	0.36536	0.050000	0.21810	0.874000	0.41677	0.1335:0.1444:0.0:0.722	5.069	0.13933	645	0.63593	Domain of unknown function DUF4502;.;.;Domain of unknown function DUF4502	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.005051	0.001359	0.000000	0.050000	0.000000	0.003049	0.003788	0.1429	2203.23	74	chr8	47440392	.	T	A	2203.23	.	AC=2;AF=0.143;AN=14;DP=252;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=29.77;SOR=1.209	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	1	0	0
chr8	47701992	47701992	A	G	exonic	SPIDR	.	nonsynonymous SNV	SPIDR:NM_001352959:exon5:c.A469G:p.T157A,SPIDR:NM_001352960:exon7:c.A379G:p.T127A,SPIDR:NM_001352945:exon10:c.A1228G:p.T410A,SPIDR:NM_001352941:exon11:c.A1438G:p.T480A,SPIDR:NM_001352944:exon11:c.A1438G:p.T480A,SPIDR:NM_001352953:exon11:c.A1021G:p.T341A,SPIDR:NM_001352956:exon11:c.A1021G:p.T341A,SPIDR:NM_001352939:exon12:c.A1462G:p.T488A,SPIDR:NM_001352942:exon12:c.A1297G:p.T433A,SPIDR:NM_001352952:exon12:c.A1021G:p.T341A,SPIDR:NM_001352955:exon12:c.A1021G:p.T341A,SPIDR:NM_001352957:exon12:c.A1021G:p.T341A,SPIDR:NM_001282916:exon13:c.A1744G:p.T582A,SPIDR:NM_001352935:exon13:c.A1744G:p.T582A,SPIDR:NM_001352936:exon13:c.A1744G:p.T582A,SPIDR:NM_001352938:exon13:c.A1462G:p.T488A,SPIDR:NM_001352940:exon13:c.A1462G:p.T488A,SPIDR:NM_001352943:exon13:c.A1462G:p.T488A,SPIDR:NM_001352946:exon13:c.A1204G:p.T402A,SPIDR:NM_001352948:exon13:c.A1204G:p.T402A,SPIDR:NM_001352950:exon13:c.A1462G:p.T488A,SPIDR:NM_001352951:exon13:c.A1204G:p.T402A,SPIDR:NM_001080394:exon14:c.A1954G:p.T652A,SPIDR:NM_001282919:exon14:c.A1774G:p.T592A,SPIDR:NM_001352931:exon14:c.A1954G:p.T652A,SPIDR:NM_001352932:exon14:c.A1834G:p.T612A,SPIDR:NM_001352933:exon14:c.A1774G:p.T592A,SPIDR:NM_001352934:exon14:c.A1954G:p.T652A,SPIDR:NM_001352937:exon14:c.A1774G:p.T592A,SPIDR:NM_001352947:exon14:c.A1204G:p.T402A,SPIDR:NM_001352961:exon14:c.A1954G:p.T652A,SPIDR:NM_001352949:exon15:c.A1297G:p.T433A,SPIDR:NM_001352958:exon16:c.A706G:p.T236A	.	429	1091	2	0	0	2	0.000915751	.	.	.	711552	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.081	.	0.0118	0.0105831	0.0030	0.0339	0.0022	0	0.0002	0.0001	0	0	0.0028784	445	154602	rs61735903	0.0011	0.0011	0.0013	0.0009	0.0356	0.0011	0.0010	0.0339	0.0333	0.0356	0.0027	0.0006	0	5.618e-05	0.0062	6.655e-05	0.0026	0.0001	0.0100	0.0100	0.0104	0.0095	0.0336	0.0095	0.0094	0.0321	0.0315	0.0336	0	0.0061	0.0017	0	9.529e-05	0.0034	0.0001	0.0066	0.0004	0.012	0.54683	D	0.074	0.57587	T	0.008	0.26746	B	0.01	0.19653	B	0.017746	0.27646	N	0.384657	1	0.08975	N	1.04	0.26193	L	.	.	.	-0.51	0.17417	N	0.299	0.39760	-1.0457	0.15621	T	0.017	0.06998	T	9	0.0032252967	0.00055	T	.	.	.	0.081	0.23632	.	.	0.0138822411134	0.00435	0.41076156216742093	0.40992	0.0431053341588	0.04645	.	.	.	0.024016	0.18227	T	-0.400984	0.02281	T	-0.323	0.42245	T	0.00779781624477151	0.00091	T	0.664234	0.29288	T	0.062159557	0.12954	0.080721386	0.18285	0.062159557	0.12953	0.080721386	0.18284	-6.432	0.51961	T	.	.	0.085	0.12276	B	.;.;.;.	.;.;.;.	2.387864	0.30663	18.51	0.94077680087559257	0.24224	0.49041	0.28343	N	AEFBI	0.085935	0.17421	N	-0.807515775171553	0.13118	0.6440187	-0.716260444089242	0.16556	0.8763899	0.647849834471565	0.22128	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.61	-0.178	0.12650	1.302000	0.33063	4.918000	0.46015	-0.083000	0.16234	0.374000	0.25957	1.000000	0.68203	0.539000	0.29915	0.3404:0.6596:0.0:0.0	16.133	0.81269	628	0.65206	Domain of unknown function DUF4503;.;.;Domain of unknown function DUF4503	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008560	0.005051	0.009511	0.017544	0.000000	0.034483	0.000000	0.000000	0.07143	60.44	34	chr8	47701992	.	A	G	60.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.38;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=-1.383;SOR=0.693	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	6	0	1	0
chr8	47727284	47727284	C	T	exonic	SPIDR	.	nonsynonymous SNV	SPIDR:NM_001352959:exon8:c.C941T:p.P314L,SPIDR:NM_001352960:exon10:c.C851T:p.P284L,SPIDR:NM_001352945:exon13:c.C1700T:p.P567L,SPIDR:NM_001352941:exon14:c.C1910T:p.P637L,SPIDR:NM_001352953:exon14:c.C1493T:p.P498L,SPIDR:NM_001352956:exon14:c.C1493T:p.P498L,SPIDR:NM_001352939:exon15:c.C1934T:p.P645L,SPIDR:NM_001352942:exon15:c.C1769T:p.P590L,SPIDR:NM_001352952:exon15:c.C1493T:p.P498L,SPIDR:NM_001352955:exon15:c.C1493T:p.P498L,SPIDR:NM_001352957:exon15:c.C1493T:p.P498L,SPIDR:NM_001282916:exon16:c.C2216T:p.P739L,SPIDR:NM_001352935:exon16:c.C2216T:p.P739L,SPIDR:NM_001352938:exon16:c.C1934T:p.P645L,SPIDR:NM_001352940:exon16:c.C1934T:p.P645L,SPIDR:NM_001352946:exon16:c.C1676T:p.P559L,SPIDR:NM_001352948:exon16:c.C1676T:p.P559L,SPIDR:NM_001352950:exon16:c.C1934T:p.P645L,SPIDR:NM_001352951:exon16:c.C1676T:p.P559L,SPIDR:NM_001080394:exon17:c.C2426T:p.P809L,SPIDR:NM_001282919:exon17:c.C2246T:p.P749L,SPIDR:NM_001352931:exon17:c.C2426T:p.P809L,SPIDR:NM_001352932:exon17:c.C2306T:p.P769L,SPIDR:NM_001352933:exon17:c.C2246T:p.P749L,SPIDR:NM_001352934:exon17:c.C2426T:p.P809L,SPIDR:NM_001352937:exon17:c.C2246T:p.P749L,SPIDR:NM_001352947:exon17:c.C1676T:p.P559L,SPIDR:NM_001352949:exon18:c.C1769T:p.P590L,SPIDR:NM_001352958:exon19:c.C1178T:p.P393L	.	428	1093	1	0	0	1	0.000457247	.	.	.	736689	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.024	.	0.0002	0.00758786	0.0046	0.0002	8.905e-05	0	0.0010	0.0006	0.0046	0.0304	0.003965	613	154602	rs199612363	0.0020	0.0020	0.0013	0.0028	0.0272	0.0020	0.0019	0.0263	0.0260	0.0001	0.0002	0	0.0001	0.0011	0.0010	0.0004	0.0023	0.0272	0.0013	0.0013	0.0009	0.0018	0.0290	0.0012	0.0011	0.0251	0.0236	0.0001	0	0.0003	0	0	0.0016	0	0.0005	0	0.0290	0.581	0.22312	T	0.006	0.72224	D	0.333	0.38987	B	0.042	0.30945	B	0.026362	0.25931	N	0.449261	1	0.08975	N	1.295	0.32453	L	.	.	.	-4.93	0.95336	D	0.291	0.38950	-1.0043	0.28666	T	0.114	0.40559	T	9	0.0048718154	0.00104	T	.	.	.	0.054	0.15330	.	.	0.143124449307	0.13826	0.24004243351475385	0.23918	0.300067500273	0.32371	.	.	.	0.202897	0.56120	T	-0.439955	0.01294	T	-0.383791	0.35277	T	0.0853742363017017	0.10659	T	0.70443	0.32778	T	0.045078773	0.07319	0.09386496	0.22191	0.045078773	0.07318	0.09386496	0.22191	-9.053	0.68038	D	.	.	0.079	0.18663	B	.;.;.;.;.;.	.;.;.;.;.;.	3.117954	0.42087	21.5	0.90126381669951006	0.19406	0.55158	0.29794	D	AEFDBI	0.088301	0.17902	N	-0.231345839894009	0.31854	1.790376	-0.229969089704573	0.30468	1.71573	0.889699909768207	0.25819	0.706548	0.73137	0	0.724815	0.89359	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.84	3.13	0.35090	0.875000	0.27729	0.534000	0.19274	-0.798000	0.03190	0.869000	0.30776	0.000000	0.08366	0.484000	0.28656	0.1319:0.6613:0.0:0.2068	6.048	0.18997	624	0.65661	Domain of unknown function DUF4503;.;.;Domain of unknown function DUF4503;Domain of unknown function DUF4503;Domain of unknown function DUF4503	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	1109.53	33	chr8	47727284	.	C	T	1109.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.6;DP=282;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=1.57;SOR=0.767	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1187	6	0	1	0
chr8	51408349	51408349	A	G	exonic	PXDNL	.	nonsynonymous SNV	PXDNL:NM_144651:exon17:c.T3275C:p.I1092T	.	430	1091	0	1	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00979165564386	.	0.000599042	0.0006	0	0	0	0	0	0	0.0046	0.000511	79	154602	rs566662597	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0002	0.0032	0.0031	0	0	0	0	0	0.0003	8.994e-07	3.313e-05	0.0035	9.847e-05	9.842e-05	5.138e-05	0.0001	0.0031	6.001e-05	4.875e-05	0.0019	0.0015	0	0	0	0	0	0	0	0	0	0.0031	0.042	0.41637	D	0.08	0.41913	T	0.037	0.20876	B	0.063	0.27082	B	0.051143	0.23008	N	0.312329	0.999986	0.18198	N	1.385	0.34509	L	-0.39	0.69158	T	-3.16	0.64246	D	0.1	0.08227	-1.0254	0.21952	T	0.093	0.35336	T	10	0.006334573	0.00143	T	0.009792	0.25540	T	0.144	0.38394	0.633	0.76921	0.344251166708	0.34027	0.3962046423093606	0.39535	0.168630496494	0.19017	0.55393242836	0.46411	T	0.023022	0.17644	T	-0.447118	0.01174	T	-0.415312	0.31613	T	0.0539621406800973	0.06183	T	0.840916	0.51656	T	0.11350901	0.26806	0.15084891	0.35559	0.11350901	0.26806	0.15084891	0.35558	-6.541	0.50602	T	.	.	0.412	0.60259	A	.	.	1.083867	0.14671	11.22	0.60625125213358722	0.06509	0.15407	0.18896	N	AEFDI	0.146484	0.26995	N	-0.675726963039729	0.16715	0.8540276	-0.803219020405007	0.14418	0.7532127	0.583453013372419	0.21589	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.564101	0.26826	0	.	.	3.82	2.64	0.30504	4.229000	0.58425	1.078000	0.23865	-0.050000	0.17177	0.815000	0.29920	0.000000	0.08366	0.000000	0.00833	0.885:0.0:0.115:0.0	7.137	0.24712	895	0.25842	Peroxidasin, peroxidase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1059.63	38	chr8	51408349	.	A	G	1059.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.3;DP=277;ExcessHet=0;FS=0.791;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=0.219;SOR=0.816	GT:AD:DP:GQ:PL	0/1:49,41:90:99:1070,0,1276	6	0	1	0
chr8	53881023	53881023	C	T	exonic	RGS20	.	nonsynonymous SNV	RGS20:NM_003702:exon1:c.C8T:p.T3M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.20033430497	.	0.000199681	6.441e-05	0.0009	0	0	0	0	0	0	5.17e-05	8	154602	rs574141651	5.687e-05	6.088e-05	6.483e-05	4.883e-05	0.0020	4.674e-05	4.295e-05	0.0016	0.0014	0.0020	6.862e-05	0	0	0	0	8.123e-06	8.379e-05	0	0.0006	0.0006	0.0006	0.0006	0.0021	0.0005	0.0005	0.0017	0.0016	0.0021	0	6.537e-05	0.0003	0	0	0	0	0.0005	0	0.007	0.59928	D	0.068	0.44106	T	0.389	0.34565	B	0.035	0.22741	B	.	.	.	.	1	0.81001	D	.	.	.	1.09	0.39223	T	-0.89	0.24026	N	0.406	0.44666	-1.0268	0.21494	T	0.062	0.25851	T	8	0.021300733	0.00507	T	0.200334	0.86703	D	0.016	0.02506	0.231	0.15855	0.391775403332	0.38787	.	.	.	.	.	.	.	.	.	.	-0.609141	0.00128	T	-0.652069	0.08810	T	0.0435861349105835	0.04344	T	0.544146	0.18565	T	.	.	.	.	.	.	.	.	-4.251	0.27484	T	.	.	0.366	0.57567	A	.	.	2.069432	0.26317	17.07	0.99656703335752705	0.77631	0.24204	0.22320	N	ALL	0.091188	0.18472	N	-0.540230972349553	0.20791	1.098663	-0.536978883774037	0.21151	1.142934	0.999999999979143	0.74766	0.443343	0.08805	1	0.484254	0.07192	0	0.666236	0.60216	0	0.249971	0.05119	0	.	.	3.61	1.8	0.24069	0.446000	0.21410	0.361000	0.17577	-0.326000	0.05813	0.150000	0.23655	0.034000	0.21380	0.252000	0.23314	0.0:0.5796:0.1979:0.2225	3.987	0.09010	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	196.49	13	chr8	53881023	.	C	T	196.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.585;DP=166;ExcessHet=0;FS=1.74;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=0.69;SOR=0.561	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,909	6	0	1	0
chr8	54459709	54459709	A	G	exonic	SOX17	.	nonsynonymous SNV	SOX17:NM_022454:exon2:c.A959G:p.Q320R	Vesicoureteral reflux 3, Autosomal dominant	0	1518	2	0	2	4	0.000658328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.0193181855625	.	.	7.156e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs757952976	2.867e-06	3.421e-06	1.417e-06	4.352e-06	2.783e-05	6.7e-07	4.5e-07	.	.	0	0	0	2.783e-05	0	0	9.236e-07	1.718e-05	1.246e-05	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.598	0.05668	T	0.56	0.09113	T	0.246	0.31102	B	0.036	0.22909	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	-1.07	0.76948	T	-0.01	0.07155	N	0.196	0.21580	-0.9873	0.33273	T	0.169	0.50987	T	9	0.08896625	0.15367	T	0.019318	0.41651	T	0.110	0.31079	0.236	0.16608	0.730879104249	0.72848	0.1616537117496091	0.16086	0.878080247472	0.69652	0.702015340328	0.67436	T	0.279673	0.65235	T	-0.214783	0.18711	T	-0.423753	0.30645	T	0.0506441746871141	0.05612	T	0.326967	0.06756	T	0.033716563	0.03645	0.06686196	0.13754	0.033716563	0.03644	0.06686196	0.13754	-9.881	0.73196	D	0.2453546888869637	0.33232	0.119	0.24464	B	.	.	0.671043	0.10395	7.119	0.51279390940111014	0.04534	0.19431	0.20658	N	AEFDBHCI	0.191456	0.31865	N	-1.21901212010154	0.04724	0.2138397	-1.2783145362374	0.04724	0.2235228	0.999999990506155	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.372554	0.06265	0	.	.	2.1	0.65	0.16984	0.094000	0.14946	-0.377000	0.09567	0.582000	0.30178	0.018000	0.19461	0.016000	0.20520	0.072000	0.16771	0.4422:0.5577:0.0:0.0	7.521	0.26795	905	0.23532	Sox, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	675.83	57	chr8	54459709	.	A	G	675.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.564;DP=244;ExcessHet=0;FS=3.642;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-2.565;SOR=1.214	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	6	0	1	0
chr8	54630261	54630261	A	G	exonic	RP1	.	nonsynonymous SNV	RP1:NM_006269:exon4:c.A6379G:p.M2127V	Retinitis pigmentosa 1, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00264360001056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.12837	T	0.449	0.12993	T	0.0	0.02946	B	0.0	0.01387	B	0.286113	0.03864	N	1.610240	1	0.08975	N	-0.205	0.04094	N	2.3	0.16953	T	0.31	0.04022	N	0.06	0.03175	-0.9919	0.32115	T	0.015	0.06090	T	10	0.025515348	0.00744	T	0.002644	0.05377	T	0.013	0.01715	0.234	0.16305	0.0846915920261	0.08053	0.264329112520451	0.26345	0.028765286346	0.02960	0.337173521519	0.16014	T	0.01682	0.13832	T	-0.366425	0.03779	T	-0.764121	0.02967	T	0.715448081493378	0.41469	D	0.39556	0.09932	T	0.11718531	0.27631	0.13422088	0.32168	0.11718531	0.27630	0.13422088	0.32167	-2.188	0.03983	T	.	.	0.059	0.00793	B	.	.	-0.874395	0.00969	0.038	0.33146661522938359	0.01959	0.03661	0.08919	N	AEFBI	0.040966	0.06164	N	-1.63755536209957	0.01088	0.04724892	-1.63707479367567	0.01444	0.06531595	0.933109661190593	0.27115	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.25	-5.1	0.02691	-0.661000	0.05410	0.051000	0.14001	-0.694000	0.04098	0.099000	0.22773	0.013000	0.20296	0.056000	0.15673	0.5015:0.0:0.27:0.2285	4.362	0.10645	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	42	chr8	54630261	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	1	0	0
chr8	54673895	54673895	A	G	exonic	RP1	.	nonsynonymous SNV	RP1:NM_001375654:exon8:c.A1369G:p.K457E	Retinitis pigmentosa 1, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.1502	0.78911	T	0.383	0.73884	T	6	0.3501361	0.51892	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.814119	0.49240	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.61470	B	.;.	.;.	3.812974	0.55007	23.6	0.87984247386889181	0.17629	0.95798	0.66199	D	AEFI	.	.	.	0.430700037268489	0.63118	4.539489	0.431472930900115	0.63536	4.589264	0.414610556013325	0.20241	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.820481	0.48968	5.18	5.18	0.71140	4.924000	0.63118	5.690000	0.49333	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	1.0:0.0:0.0:0.0	15.043	0.71471	790	0.46189	PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	38.8	2	chr8	54673895	.	A	G	38.8	.	AC=2;AF=0.25;AN=8;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;QD=19.4;SOR=0.693	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,27	3	1	0	3
chr8	55102982	55102982	G	A	exonic	XKR4	.	nonsynonymous SNV	XKR4:NM_052898:exon1:c.G494A:p.R165H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0973141550872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.999	0.77913	D	0.918	0.65394	D	0.000205	0.47681	D	0.127086	0.999783	0.49076	D	2.505	0.72935	M	-0.15	0.65192	T	-2.01	0.46337	N	0.649	0.67391	-0.2041	0.77564	T	0.415	0.76232	T	10	0.75375366	0.75828	D	0.097314	0.76753	D	0.476	0.76816	0.677	0.81496	0.849196322491	0.84774	0.7889629455339338	0.78848	1.71759824181	0.90524	0.935976862907	0.99290	D	0.097112	0.39961	T	0.316911	0.84250	D	0.217444	0.84045	D	0.990491151809692	0.80716	D	0.989601	0.96561	D	0.27911463	0.50963	0.26417568	0.52233	0.27911463	0.50963	0.26417568	0.52233	-6.586	0.50945	T	.	.	0.824	0.78511	P	.;.	.;.	5.902917	0.94005	33	0.99955487005235077	0.99975	0.49595	0.28469	N	ALL	0.785774	0.71606	D	0.864626668306213	0.89924	10.17639	0.859847938803985	0.93579	12.13653	1.0	0.98316	0.685219	0.55550	0	0.552344	0.17405	0	0.674405	0.61402	0	0.341033	0.05752	3	.	.	5.57	5.57	0.84021	9.255000	0.94710	11.468000	0.92849	0.565000	0.28586	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.549	0.95303	885	0.28214	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1821.92	35	chr8	55102982	.	G	A	1821.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.484;DP=305;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=1.38;SOR=0.717	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1132	4	0	2	1
chr8	56113820	56113820	T	C	exonic	MOS	.	nonsynonymous SNV	MOS:NM_005372:exon1:c.A163G:p.I55V	.	426	1078	18	0	0	18	0.00827967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.564	0.153497219368	0.0008	0.000798722	0.0006	0	0.0004	0	0	0.0009	0.0045	0.0004	0.0006274	97	154602	rs144702322	0.0005	0.0005	0.0005	0.0005	0.0085	0.0005	0.0005	0.0066	0.0059	0.0007	0.0010	0.0070	0	0	0.0085	0.0003	0.0013	0.0004	0.0006	0.0006	0.0006	0.0006	0.0009	0.0005	0.0005	0.0006	0.0004	9.638e-05	0	0.0009	0.0081	0	0	0.0102	0.0005	0.0024	0	0.036	0.43393	D	0.151	0.32355	T	0.816	0.45573	P	0.293	0.40773	B	0.000015	0.62929	D	0.064498	0.99989	0.50595	D	1.28	0.32218	L	-3.21	0.93291	D	-0.28	0.11547	N	0.299	0.33796	0.667	0.92764	D	0.762	0.91890	D	10	0.010984093	0.00242	T	0.153497	0.83475	D	0.564	0.82175	.	.	0.918735037237	0.91791	0.44599518074386335	0.44517	1.44029995128	0.85957	0.662431120872	0.61757	T	0.20794	0.56773	T	-0.254328	0.13573	T	-0.188542	0.55727	T	0.0328171967443175	0.02440	T	0.948505	0.80194	D	0.11397421	0.26911	0.17326204	0.39641	0.11397421	0.26911	0.17326204	0.39640	-3.11	0.11411	T	.	.	0.126	0.26576	B	.	.	3.331433	0.45867	22.2	0.99871693864411837	0.94902	0.95878	0.66542	D	AEFDBCI	0.745180	0.68793	D	0.432030860679848	0.63191	4.548206	0.465406362246442	0.65714	4.858585	0.999982840478946	0.51787	0.59774	0.34471	0	0.563428	0.19063	0	0.478664	0.07449	1	0.63947	0.58350	0	.	.	5.14	5.14	0.70008	4.954000	0.63335	4.202000	0.42475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.452000	0.27939	0.0:0.0:0.0:1.0	14.968	0.70859	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008569	0.010101	0.013587	0.002924	0.000000	0.008621	0.003067	0.003788	0.07143	2117.44	39	chr8	56113820	.	T	C	2117.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.208;DP=372;ExcessHet=0;FS=8.013;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-1.03;SOR=1.254	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1078	6	0	1	0
chr8	56441673	56441673	G	A	exonic	PENK	.	nonsynonymous SNV	PENK:NM_001135690:exon4:c.C403T:p.R135W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.0576754574186	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175793969	6.841e-06	6.84e-06	5.445e-06	8.251e-06	5.038e-05	3.46e-06	2.52e-06	1.583e-05	9.3e-06	0	0	0	5.038e-05	0	0	3.597e-06	0	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.975	0.73362	D	0.000530	0.43581	D	0.242516	0.553253	0.32151	D	3.52	0.92970	H	2.15	0.19311	T	-5.51	0.85921	D	0.756	0.76296	-0.6963	0.60614	T	0.145	0.46841	T	10	0.88327813	0.87645	D	0.057675	0.67049	D	0.262	0.57482	0.423	0.46693	0.56874858234	0.56539	0.5705508411031116	0.56983	0.259186231862	0.28475	0.554550766945	0.46499	T	0.809845	0.95236	D	0.119767	0.66347	D	0.0311143	0.72351	D	0.994649946689606	0.86061	D	0.962554	0.86020	D	0.37248343	0.58768	0.38937524	0.63759	0.37248343	0.58769	0.38937524	0.63759	-15.039	0.95943	D	.	.	0.472	0.64435	A	.;.	.;.	4.399047	0.67958	25.2	0.99909757421241518	0.97949	0.76014	0.37250	D	AEFDHCI	0.711439	0.66488	D	0.421561235836474	0.62608	4.479633	0.311236313862859	0.56200	3.782947	0.00323595295257479	0.10007	0.653496	0.48692	0	0.61073	0.52368	0	0.596874	0.31795	0	0.542086	0.14980	0	.	.	5.98	0.577	0.16569	1.259000	0.32559	1.131000	0.24326	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.913000	0.44837	0.0:0.0:0.5671:0.4329	14.982	0.70970	749	0.51929	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2225.44	190	chr8	56441673	.	G	A	2225.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.354;DP=395;ExcessHet=0;FS=1.116;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=1.65;SOR=0.65	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,101,1313	6	0	1	0
chr8	58494506	58494506	C	T	exonic	CYP7A1	.	nonsynonymous SNV	CYP7A1:NM_000780:exon4:c.G1039A:p.D347N	.	420	1097	5	0	0	5	0.00227376	1.0000	1.0	.	1540955	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.318	.	0.0036	0.00978435	0.0028	0.0116	0.0007	0.0225	0	0.0002	0.0011	0.0003	0.0027167	420	154602	rs8192875	0.0013	0.0013	0.0014	0.0013	0.0318	0.0013	0.0013	0.0304	0.0298	0.0104	0.0015	0	0.0318	0	0.0043	7.105e-05	0.0022	0.0005	0.0042	0.0042	0.0042	0.0042	0.0241	0.0039	0.0038	0.0207	0.0194	0.0105	0	0.0038	0	0.0241	0	0.0034	0.0001	0.0038	0.0004	0.013	0.53900	D	0.015	0.61642	D	0.999	0.77913	D	0.989	0.78396	D	0.000000	0.84330	D	0.041350	1	0.81001	D	2.44	0.70756	M	-0.38	0.69027	T	-2.99	0.62151	D	0.623	0.63798	-0.5207	0.67888	T	0.183	0.53057	T	9	0.018137366	0.00392	T	.	.	.	0.318	0.64008	.	.	0.962920958233	0.96252	0.8392428376780902	0.83884	0.467073840312	0.46092	0.593517065048	0.51990	T	0.550073	0.84749	D	-0.488738	0.00660	T	-0.457895	0.26830	T	0.0167354588121654	0.00430	T	0.875612	0.58729	D	0.42863122	0.62663	0.27245134	0.53156	0.42863122	0.62663	0.27245134	0.53155	-5.258	0.39526	T	.	.	0.225	0.45641	B	.	.	6.188484	0.94755	34	0.9990765024348216	0.97801	0.99671	0.98530	D	AEFGI	0.895981	0.83658	D	0.732088481328236	0.81736	7.592532	0.694870115816806	0.81987	7.657295	0.99999999955398	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.74	5.74	0.90070	7.264000	0.77831	7.714000	0.66958	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.355000	0.25773	0.0:1.0:0.0:0.0	19.920	0.97082	957	0.09725	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.010101	0.001359	0.005848	0.000000	0.000000	0.003049	0.000000	0.07143	109.44	34	chr8	58494506	.	C	T	109.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.282;DP=205;ExcessHet=0;FS=3.979;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.89;ReadPosRankSum=-1.282;SOR=1.447	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1033	6	0	1	0
chr8	60742450	60742450	A	G	exonic	CHD7	.	nonsynonymous SNV	CHD7:NM_001316690:exon1:c.A1018G:p.M340V,CHD7:NM_017780:exon2:c.A1018G:p.M340V	CHARGE syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 5 with or without anosmia	0	1482	40	0	0	40	0.0133156	.	.	.	101670	not_provided|CHARGE_syndrome|Hypogonadotropic_hypogonadism_5_with_or_without_anosmia|not_specified|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0008965,MedGen:C0265354,OMIM:214800,Orphanet:138|MONDO:MONDO:0012880,MedGen:C3552553,OMIM:612370,Orphanet:478|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.323	0.0339114867738	0.0056	0.00219649	0.0042	0.0018	0.0027	0	0.0018	0.0063	0.0011	0.0013	0.0046118	713	154602	rs41305525	0.0063	0.0063	0.0064	0.0062	0.0074	0.0062	0.0062	0.0073	0.0072	0.0011	0.0037	0.0091	2.519e-05	0.0022	0.0055	0.0074	0.0054	0.0010	0.0050	0.0050	0.0047	0.0053	0.0092	0.0047	0.0045	0.0079	0.0074	0.0011	0.0230	0.0092	0.0072	0	0.0022	0.0034	0.0071	0.0062	0.0012	0.08	0.38185	T	0.547	0.22561	T	0.0	0.02946	B	0.0	0.01387	B	0.000072	0.52346	D	0.000000	0.898011	0.37487	D	0.805	0.20218	L	-1.41	0.80560	T	-0.42	0.18459	N	0.598	0.61680	-0.6566	0.62426	T	0.238	0.60547	T	10	0.00827083	0.00188	T	0.033911	0.55311	D	0.323	0.64522	.	.	0.976595498363	0.97634	0.4353467972002826	0.43451	0.10439461914	0.11810	0.490928173065	0.37567	T	0.119051	0.44030	T	-0.161409	0.26543	T	0.00575872	0.70709	D	0.0103646805390991	0.00142	T	0.849815	0.54891	T	0.21582852	0.44026	0.19427694	0.43042	0.2614135	0.49200	0.23961963	0.49315	-5.88	0.45605	T	.	.	0.055	0.00524	B	.;.;.	.;.;.	2.315230	0.29642	18.19	0.93778370641130049	0.23734	0.78177	0.38532	D	AEFDGBCI	0.178216	0.30547	N	-0.179153468122502	0.34004	1.935703	0.0170262268929298	0.40506	2.418432	0.999995284942806	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.67	4.5	0.54382	4.816000	0.62333	7.906000	0.73790	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8644:0.1356:0.0:0.0	12.926	0.57656	868	0.31772	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005539	0.000000	0.002717	0.002924	0.050000	0.000000	0.006098	0.015152	0.07143	2502.44	33	chr8	60742450	.	A	G	2502.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.921;DP=385;ExcessHet=0;FS=2.668;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=0.121;SOR=0.921	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	6	0	1	0
chr8	64581463	64581463	-	GCAGCA	exonic	BHLHE22	.	nonframeshift insertion	BHLHE22:NM_152414:exon1:c.673_674insGCAGCA:p.S234_K235insSS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0349	.	0.001	0.0027	0.0031	0	0	0.0012	0	0.0008	0.0003842	10	26028	rs564889045	0.0035	0.0034	0.0036	0.0035	0.0078	0.0035	0.0034	0.0070	0.0067	0.0078	0.0026	0.0006	0.0009	0.0007	0.0030	0.0039	0.0038	0.0012	0.0045	0.0045	0.0047	0.0043	0.0076	0.0042	0.0041	0.0069	0.0066	0.0076	0	0.0043	0.0003	0.0010	0.0006	0	0.0040	0.0032	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2198.59	27	chr8	64581463	.	G	GGCAGCA	2198.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.06;DP=246;ExcessHet=0.3476;FS=0.782;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.99;ReadPosRankSum=-0.377;SOR=0.546	GT:AD:DP:GQ:PL	0/1:25,28:53:99:1038,0,956	6	0	1	0
chr8	66154096	66154096	C	T	exonic	TRIM55	.	nonsynonymous SNV	TRIM55:NM_033058:exon9:c.C1286T:p.P429L,TRIM55:NM_184085:exon9:c.C1286T:p.P429L	.	424	1096	1	1	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00568747619884	.	.	1.651e-05	0	0	0	0	3.004e-05	0	0	1.94e-05	3	154602	rs775939537	1.231e-05	1.231e-05	1.497e-05	9.625e-06	1.349e-05	7.7e-06	6.35e-06	8.1e-06	6.42e-06	0	0	0	0	0	0	1.349e-05	4.967e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.48186	D	0.047	0.48855	D	0.22	0.33195	B	0.036	0.28749	B	0.015275	0.28293	N	0.307307	0.977527	0.81001	D	2.075	0.57047	M	1.6	0.28836	T	-0.7	0.19933	N	0.283	0.32037	-1.1033	0.03714	T	0.049	0.20829	T	10	0.14688402	0.27840	T	0.005687	0.14742	T	0.024	0.04979	0.213	0.13210	0.455265801863	0.45150	0.13645006087210365	0.13569	0.0501364724578	0.05501	0.429083585739	0.29083	T	0.161314	0.50552	T	-0.197408	0.21179	T	-0.505854	0.21741	T	0.375408351421356	0.28006	T	0.864914	0.56785	D	0.07868841	0.17934	0.06814461	0.14193	0.07868841	0.17934	0.06814461	0.14193	-5.25	0.39445	T	.	.	0.071	0.07224	B	.;.	.;.	3.781401	0.54376	23.5	0.99710139132440434	0.81283	0.71200	0.34911	D	AEFBCI	0.500846	0.53394	D	0.0498619601091698	0.44135	2.693201	0.236586661438582	0.51891	3.367745	0.99980240429207	0.43304	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.94	5.0	0.66209	2.595000	0.45861	6.103000	0.53575	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.376:0.624:0.0:0.0	11.731	0.51006	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1751.46	34	chr8	66154096	.	C	T	1751.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.39;DP=332;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.915;SOR=0.733	GT:AD:DP:GQ:PL	0/1:72,71:143:99:1762,0,1692	6	0	1	0
chr8	66493691	66493691	G	C	exonic	VXN	.	nonsynonymous SNV	VXN:NM_152765:exon1:c.G43C:p.V15L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.00547327237093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.979e-06	0.0002	9.631e-06	8.323e-06	1.164e-05	5.01e-06	3.86e-06	5.37e-06	3.92e-06	0	0	0	0	0	0	1e-05	1.668e-05	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.116	0.92824	T	0.996	0.90584	D	0.99	0.82059	D	0.000007	0.62929	D	0.000000	0.99932	0.46670	D	.	.	.	.	.	.	-2.35	0.57762	N	0.725	0.82964	-0.6318	0.63494	T	0.303	0.67409	T	9	0.5419149	0.63768	D	0.005473	0.14075	T	0.219	0.51417	0.234	0.16305	0.658285377725	0.65543	0.48710170484580395	0.48630	1.31309391701	0.83265	.	.	.	0.114249	0.49642	T	0.245393	0.78169	D	0.114713	0.77885	D	0.835849516035111	0.48992	D	0.837516	0.52137	T	0.58112	0.71669	0.61174595	0.77411	0.58112	0.71670	0.61174595	0.77412	-3.202	0.12505	T	.	.	0.979	0.91928	P	.;.;.;.	.;.;.;.	4.230900	0.64072	24.7	0.99840759444709359	0.92143	0.98639	0.85009	D	AEFGBHI	0.812472	0.73519	D	0.712960435504671	0.80482	7.303924	0.757067553857114	0.86685	8.968818	0.999999999869192	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.98	5.98	0.97147	6.429000	0.73312	11.673000	0.94126	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.639	0.91344	632	0.64850	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	113.3	33	chr8	66493691	.	G	C	113.3	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.485;DP=326;ExcessHet=0;FS=189.948;MLEAC=1;MLEAF=0.071;MQ=58.66;MQRankSum=0.558;QD=1.86;ReadPosRankSum=1.4;SOR=8.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:54,17:71:33:.:.:0,33,975:.	6	0	1	0
chr8	67076486	67076486	A	G	exonic	CSPP1	.	nonsynonymous SNV	CSPP1:NM_001363131:exon3:c.A104G:p.K35R,CSPP1:NM_001363132:exon3:c.A104G:p.K35R,CSPP1:NM_001363133:exon3:c.A104G:p.K35R,CSPP1:NM_001364869:exon3:c.A212G:p.K71R,CSPP1:NM_001364870:exon3:c.A212G:p.K71R,CSPP1:NM_001382391:exon3:c.A104G:p.K35R,CSPP1:NM_024790:exon3:c.A212G:p.K71R	Joubert syndrome 21, Autosomal recessive	438	1074	10	0	0	10	0.00463392	.	.	.	439323	not_provided|CSPP1-related_disorder|Joubert_syndrome_21	MedGen:C3661900|.|MONDO:MONDO:0014288,MedGen:C3810212,OMIM:615636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.081	0.032919025482	0.0003	0.000998403	0.0009	0	0.0007	0	0	0.0007	0.0022	0.0035	0.000815	126	154602	rs200158932	0.0007	0.0008	0.0007	0.0008	0.0037	0.0007	0.0007	0.0034	0.0032	3.223e-05	0.0009	0.0048	0	1.901e-05	0.0020	0.0005	0.0012	0.0037	0.0008	0.0008	0.0007	0.0009	0.0033	0.0007	0.0006	0.0021	0.0017	9.635e-05	0	0.0022	0.0075	0	0	0	0.0006	0.0014	0.0033	0.167	0.31088	T	0.397	0.15157	T	0.675	0.41275	P	0.23	0.38212	B	.	.	.	.	0.999968	0.52935	D	2.175	0.60977	M	0.01	0.62459	T	-1.58	0.38151	N	0.29	0.32812	-0.9104	0.46805	T	0.168	0.50713	T	9	0.004075825	0.00080	T	0.032919	0.54612	D	0.081	0.23632	.	.	0.618220796974	0.61513	0.13224687950424716	0.13149	0.260233757708	0.28594	0.417426407337	0.27483	T	0.039126	0.25082	T	-0.506299	0.00527	T	-0.503091	0.22027	T	0.0435329575867889	0.04335	T	0.722728	0.33613	T	.	.	.	.	.	.	.	.	-4.079	0.24980	T	.	.	0.086	0.10691	B	.;.	.;.	3.978801	0.58476	24.0	0.96336002961567346	0.29466	0.77316	0.38000	D	AEFDBHI	0.176160	0.30336	N	-0.592453376376473	0.19172	1.001356	-0.56047423542501	0.20528	1.106393	0.422258865873599	0.20301	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.53	3.09	0.34677	3.732000	0.54746	.	.	-0.095000	0.16041	0.996000	0.39380	0.999000	0.35428	0.014000	0.10232	0.737:0.263:0.0:0.0	12.555	0.55595	358	0.85037	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.000000	0.1429	1073.26	34	chr8	67076486	.	A	G	1073.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.58;DP=265;ExcessHet=0.3476;FS=3.701;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=-1.154;SOR=1.136	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	5	0	2	0
chr8	67201504	67201504	C	T	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon37:c.G5230A:p.V1744I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00664328931938	.	0.000798722	0.0004	0.0002	0.0003	0.0002	0	4.497e-05	0	0.0024	0.0003881	60	154602	rs372291665	0.0002	0.0002	0.0001	0.0003	0.0025	0.0002	0.0002	0.0022	0.0021	3.003e-05	0.0003	3.833e-05	0.0001	1.873e-05	0.0003	3.96e-05	0.0002	0.0025	0.0002	0.0002	0.0002	0.0002	0.0027	0.0001	0.0001	0.0016	0.0013	4.811e-05	0	0.0003	0	0	0	0.0034	8.82e-05	0	0.0027	0.127	0.27080	T	0.225	0.25514	T	0.048	0.22112	B	0.018	0.18489	B	0.550974	0.11436	N	0.816782	1	0.08975	N	0.115	0.08564	N	0.97	0.42502	T	-0.31	0.12099	N	0.046	0.01825	-1.0203	0.23616	T	0.053	0.22655	T	10	0.006272733	0.00141	T	0.006643	0.17529	T	0.049	0.13647	.	.	0.200294437569	0.19612	0.027002671277723125	0.02650	0.468642469395	0.46202	0.257009446621	0.04541	T	0.095075	0.39547	T	-0.619835	0.00110	T	-0.668674	0.07693	T	0.00408437667957735	0.00043	T	0.50185	0.15733	T	0.018952077	0.00420	0.030926231	0.01613	0.018952077	0.00419	0.030926231	0.01612	-3.615	0.18074	T	.	.	0.068	0.02765	B	.	.	1.624862	0.20752	14.89	0.93446374230100049	0.23227	0.09132	0.14949	N	AEFBI	0.052207	0.09295	N	-1.00563472876127	0.08486	0.3980818	-0.929184740388801	0.11407	0.5809456	0.003921937800089	0.10341	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.42	1.1	0.19578	1.874000	0.39205	.	.	-0.850000	0.02721	0.008000	0.17931	0.000000	0.08366	0.648000	0.32638	0.0:0.411:0.0:0.589	6.768	0.22765	628	0.65206	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001007	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1240.46	33	chr8	67201504	.	C	T	1240.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.77;DP=302;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=-1.716;SOR=0.669	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,958	6	0	1	0
chr8	67267206	67267206	T	G	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon12:c.A1697C:p.Y566S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.185111105236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.615	0.93875	H	-0.14	0.65006	T	-8.21	0.96839	D	0.903	0.90363	0.359	0.88479	D	0.556	0.83808	D	10	0.9076985	0.90135	D	0.185111	0.85792	D	0.827	0.94503	0.744	0.87570	0.87037615458	0.86911	0.9092638382302259	0.90900	2.66344963391	0.98472	0.932812094688	0.99139	D	0.543141	0.84394	D	0.399337	0.89876	D	0.335844	0.89748	D	0.999809205532074	0.99090	D	0.994967	0.98297	D	0.9542225	0.96695	0.9234184	0.96638	0.9542225	0.96696	0.9234184	0.96638	-14.814	0.95401	D	.	.	0.994	0.95244	P	.	.	4.277610	0.65129	24.8	0.99153331616312945	0.53875	0.99263	0.93634	D	AEBI	0.859364	0.77703	D	0.963041333664288	0.94489	12.79763	0.891701606307143	0.95200	13.402	0.999999722328493	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.64	5.64	0.86480	7.941000	0.87167	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.858	0.78774	515	0.74782	Guanine nucleotide exchange factor, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	113.13	61	chr8	67267206	.	T	G	113.13	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.52;DP=425;ExcessHet=0;FS=192.823;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=4.22;SOR=7.941	GT:AD:DP:GQ:PL	0/1:85,37:122:99:121,0,1352	4	0	1	2
chr8	67299229	67299229	C	T	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon4:c.G439A:p.V147I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.00485664365008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.144	0.33109	T	0.998	0.73220	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999944	0.51968	D	1.42	0.35681	L	1.82	0.25018	T	-0.83	0.22727	N	0.47	0.50598	-1.0588	0.12058	T	0.129	0.43867	T	10	0.44255733	0.58194	T	0.004857	0.12192	T	0.244	0.55061	0.419	0.46036	0.344740032716	0.34089	0.46458263451071363	0.46377	0.432702769526	0.43444	0.796535730362	0.81436	T	0.173112	0.52185	T	-0.0537433	0.43877	T	-0.314975	0.43122	T	0.922568202018738	0.58277	D	0.989121	0.96387	D	0.31868398	0.54528	0.16852483	0.38818	0.31868398	0.54528	0.16852483	0.38817	-7.853	0.60064	D	.	.	0.089	0.12276	B	.	.	4.127652	0.61742	24.4	0.99858364901069363	0.93729	0.99671	0.98530	D	AEFBI	0.844558	0.76151	D	0.691477747293272	0.79072	7.001596	0.703445623715783	0.82640	7.817407	0.999999999999729	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.15	5.15	0.70287	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.003	0.92819	440	0.80101	Mon2, dimerisation and cyclophilin-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	33.59	7	chr8	67299229	.	C	T	33.59	.	AC=1;AF=0.125;AN=8;BaseQRankSum=0.199;DP=58;ExcessHet=0;FS=20.225;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.8;ReadPosRankSum=0.794;SOR=4.402	GT:AD:DP:GQ:PL	./.:6,0:6:0:0,0,51	3	0	1	3
chr8	69624074	69624074	G	A	exonic	SULF1	.	nonsynonymous SNV	SULF1:NM_001128204:exon14:c.G1727A:p.R576H,SULF1:NM_001128206:exon14:c.G1727A:p.R576H,SULF1:NM_001128205:exon15:c.G1727A:p.R576H,SULF1:NM_015170:exon15:c.G1727A:p.R576H	.	421	1100	1	0	0	1	0.000454339	.	.	.	1443142	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.716	0.318913444216	.	.	0.0001	0.0003	0.0002	0	0	7.51e-05	0	0.0005	0.0001229	19	154602	rs758690728	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	0.0001	8.946e-05	7.652e-05	5.038e-05	0	0.0002	0.0001	0.0001	0.0003	0.0001	0.0001	8.989e-05	0.0001	0.0006	6.51e-05	5.322e-05	0.0002	8.985e-05	7.237e-05	0	6.541e-05	0	0	0	0	0.0001	0	0.0006	0.017	0.51248	D	0.045	0.58613	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.74	0.80084	M	-5.38	0.99045	D	-2.13	0.48354	N	0.865	0.87049	1.098	0.99569	D	0.976	0.99257	D	10	0.68504936	0.71510	D	0.318913	0.91414	D	0.716	0.89922	.	.	0.817458200892	0.81573	0.5737155763041589	0.57300	0.437379854164	0.43799	0.637360453606	0.58189	T	0.362436	0.72835	T	0.163377	0.70513	D	0.307422	0.88538	D	0.13105184219805	0.15479	T	0.919908	0.71037	D	0.1678904	0.37213	0.20089164	0.44042	0.1678904	0.37212	0.20089164	0.44041	-4.927	0.36037	T	.	.	0.093	0.18539	B	.;.;.;.;.	.;.;.;.;.	5.123053	0.85695	28.7	0.99932825176876927	0.99439	0.96712	0.70537	D	AEFDBCIJ	0.914620	0.87825	D	0.94384541018095	0.93735	12.24156	0.917990272813166	0.96310	14.54296	0.999999999999982	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	9.597000	0.97445	10.028000	0.83159	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.0:0.0:1.0:0.0	20.012	0.97458	900	0.24599	Extracellular sulfatase, C-terminal;Extracellular sulfatase, C-terminal;Extracellular sulfatase, C-terminal;Extracellular sulfatase, C-terminal;Extracellular sulfatase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	559.46	36	chr8	69624074	.	G	A	559.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.369;DP=225;ExcessHet=0;FS=2.66;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.205;SOR=0.361	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1108	6	0	1	0
chr8	72937418	72937418	A	G	exonic	KCNB2	.	nonsynonymous SNV	KCNB2:NM_004770:exon3:c.A2063G:p.H688R	.	432	1024	60	5	1	71	0.03305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0018	0.00579073	0.0060	0.0002	0.0014	0.0001	0.0002	0.0024	0.0077	0.0324	0.0052134	806	154602	rs148879809	0.0034	0.0034	0.0025	0.0043	0.0305	0.0033	0.0033	0.0295	0.0291	0.0001	0.0014	0.0093	7.558e-05	0.0003	0.0201	0.0014	0.0048	0.0305	0.0024	0.0024	0.0019	0.0030	0.0305	0.0022	0.0022	0.0265	0.0250	0.0002	0	0.0020	0.0098	0.0002	9.438e-05	0.0068	0.0020	0.0047	0.0305	0.167	0.23095	T	0.393	0.15355	T	0.579	0.38789	P	0.288	0.40614	B	0.447423	0.12550	N	0.645143	0.999796	0.20333	N	0.755	0.19153	N	2.16	0.19166	T	0.17	0.05125	N	0.194	0.21319	-1.0423	0.16621	T	0.036	0.15640	T	10	0.0031713843	0.00053	T	.	.	.	0.031	0.07369	.	.	0.449242652821	0.44546	0.2769550992391696	0.27608	0.678472507498	0.59887	0.326055109501	0.14337	T	0.072245	0.34406	T	-0.586394	0.00176	T	-0.592094	0.13486	T	0.0182838058385119	0.00547	T	0.329367	0.06881	T	0.031181686	0.02911	0.04825675	0.07130	0.031181686	0.02911	0.04825675	0.07129	-3.165	0.12058	T	.	.	0.066	0.02145	B	.	.	0.497220	0.08661	5.435	0.83565526180723326	0.14796	0.44910	0.27422	N	AEFBI	0.231181	0.35445	N	-0.568358184222436	0.19911	1.045796	-0.633352496499007	0.18638	0.996561	0.027996616103475	0.13806	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.564101	0.26826	0	.	.	4.65	2.15	0.26590	1.870000	0.39166	1.146000	0.24443	0.691000	0.84096	0.046000	0.21249	0.025000	0.21018	0.780000	0.36908	0.7174:0.1446:0.0:0.138	7.771	0.28173	849	0.35778	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.010101	0.012228	0.020468	0.000000	0.000000	0.018293	0.030303	0.07143	680.83	37	chr8	72937418	.	A	G	680.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.207;DP=237;ExcessHet=0;FS=4.987;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.413;SOR=0.796	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	6	0	1	0
chr8	73292779	73292782	AACC	-	exonic	RPL7	.	frameshift deletion	RPL7:NM_000971:exon2:c.30_33del:p.E10Dfs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	220.45	47	chr8	73292778	.	GAACC	G	220.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.485;DP=354;ExcessHet=0;FS=57.234;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.86;ReadPosRankSum=1.49;SOR=5.279	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:72,0:72:99:.:.:0,120,1800:.	6	0	1	0
chr8	73292782	73292782	-	GGGG	exonic	RPL7	.	frameshift insertion	RPL7:NM_000971:exon2:c.29_30insCCCC:p.E10Dfs*11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	220.6	39	chr8	73292782	.	C	CGGGG	220.6	.	AC=1;AF=0.071;AN=14;DP=294;ExcessHet=0;FS=57.234;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.86;ReadPosRankSum=1.35;SOR=5.279	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	6	0	1	0
chr8	76851012	76851012	G	T	exonic	ZFHX4	.	nonsynonymous SNV	ZFHX4:NM_024721:exon10:c.G4091T:p.S1364I	.	0	1516	5	1	0	7	0.00230339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0158183269147	0.0002	0.000599042	0.0003	0	0.0003	0	0	0.0002	0.0011	0.0013	0.0002911	45	154602	rs202188141	0.0003	0.0003	0.0002	0.0003	0.0013	0.0002	0.0002	0.0011	0.0010	2.987e-05	0.0008	3.826e-05	0	0	0.0005	0.0002	0.0001	0.0013	0.0003	0.0003	0.0002	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	9.624e-05	0	0.0007	0	0	0	0.0034	0.0002	0.0005	0.0017	0.014	0.58626	D	0.019	0.59159	D	.	.	.	.	.	.	0.033105	0.24940	U	0.291648	0.887159	0.37123	D	.	.	.	0.69	0.51714	T	-2.14	0.48523	N	0.349	0.47115	-0.8576	0.51434	T	0.127	0.43339	T	10	0.025031954	0.00710	T	0.015818	0.36761	T	0.103	0.29403	.	.	0.123314135267	0.11883	0.3174596087985122	0.31658	0.196466744012	0.22005	0.363212525845	0.19852	T	.	.	.	-0.337094	0.05592	T	-0.307429	0.43935	T	0.0653872507335989	0.07987	T	0.644935	0.26896	T	.	.	.	.	.	.	.	.	-4.24	0.27327	T	.	.	0.086	0.10691	B	.;.;.	.;.;.	3.402849	0.47165	22.4	0.98786684423702131	0.46222	0.97438	0.74751	D	AEFBI	0.586042	0.58423	D	-0.0461108992965707	0.39776	2.351187	0.0607690685982186	0.42595	2.579112	0.882419080588747	0.25652	0.638212	0.43195	0	0.610034	0.51514	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	4.65	3.76	0.42368	3.392000	0.52279	4.618000	0.44064	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.1429:0.8571:0.0	15.069	0.71685	801	0.44448	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1701.46	36	chr8	76851012	.	G	T	1701.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.964;DP=315;ExcessHet=0;FS=5.965;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=1.92;SOR=1.222	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	6	0	1	0
chr8	86427792	86427792	A	T	exonic	WWP1	.	nonsynonymous SNV	WWP1:NM_007013:exon11:c.A1307T:p.Q436L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.368	0.0696563929859	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.014	0.62352	D	0.996	0.68779	D	0.937	0.67262	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.39	0.68882	M	0.73	0.50721	T	-5.9	0.88839	D	0.582	0.60325	-0.4719	0.69658	T	0.285	0.65665	T	10	0.515165	0.62324	D	0.069656	0.70788	D	0.368	0.68757	0.459	0.52590	0.171220215726	0.16700	0.5273484206399934	0.52658	1.9606362905	0.93449	0.747439026833	0.74069	T	0.404002	0.76059	T	0.011955	0.53292	T	-0.220604	0.52679	T	0.997088491916656	0.90733	D	0.853415	0.53896	D	0.80757153	0.84394	0.6435708	0.79168	0.80757153	0.84395	0.6435708	0.79169	-15.343	0.96605	D	.	.	0.212	0.45174	B	.;.	.;.	5.085006	0.84888	28.4	0.99627557272743605	0.75837	0.96242	0.68190	D	AEFBI	0.816448	0.73817	D	0.72004506462786	0.80945	7.408516	0.692177594439059	0.81785	7.608428	0.994841231585899	0.33827	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.2	5.2	0.71720	7.313000	0.78289	11.167000	0.87842	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.061	0.71622	652	0.62785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	919.44	76	chr8	86427792	.	A	T	919.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.117;DP=307;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=0.61;SOR=0.64	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1411	6	0	1	0
chr8	87206075	87206075	G	A	exonic	CNBD1	.	nonsynonymous SNV	CNBD1:NM_173538:exon5:c.G514A:p.D172N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.0371904183206	.	.	9.318e-06	0	0	0	0	0	0	6.974e-05	6.5e-06	1	154602	rs745548588	2.062e-06	2.052e-06	0	4.146e-06	2.341e-05	5.5e-07	1.5e-07	3.89e-06	1.46e-06	0	0	0	0	0	0	9.022e-07	0	2.341e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488	0.08042	T	0.483	0.14633	T	0.022	0.18677	B	0.012	0.16012	B	0.134889	0.02838	N	2.056800	1	0.08975	N	0.205	0.09354	N	-4.16	0.96826	D	-1.52	0.36980	N	0.168	0.17828	-0.0885	0.80361	T	0.690	0.89309	D	10	0.057771564	0.06688	T	0.03719	0.57461	D	0.230	0.53062	0.253	0.19223	0.101711395817	0.09552	0.11208737952720348	0.11137	0.00474942746562	0.00421	0.334331333637	0.15586	T	0.003925	0.03333	T	-0.191117	0.22095	T	-0.411673	0.32033	T	0.0253224432165883	0.01315	T	0.516848	0.16688	T	0.040982213	0.05951	0.03370593	0.02311	0.040982213	0.05951	0.03370593	0.02310	-4.459	0.30348	T	.	.	0.115	0.23041	B	.;.	.;.	0.995205	0.13731	10.28	0.76802077728408336	0.11615	0.02319	0.06648	N	AEFI	0.050910	0.08942	N	-1.07762952213251	0.07058	0.3267161	-1.07886466325814	0.08117	0.3977066	5.34464006079041E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	-0.658	0.10855	0.241000	0.17843	1.065000	0.23755	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.273000	0.23843	0.1837:0.2841:0.4024:0.1298	2.410	0.04152	730	0.54327	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	876.44	38	chr8	87206075	.	G	A	876.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.853;DP=276;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=0.711;SOR=0.746	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	6	0	1	0
chr8	94194651	94194651	A	G	exonic	CDH17	.	nonsynonymous SNV	CDH17:NM_001144663:exon2:c.T35C:p.L12P,CDH17:NM_004063:exon2:c.T35C:p.L12P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.0325661254709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.91255	T	0.115	0.92824	T	0.998	0.73220	D	0.909	0.64565	D	0.000714	0.42254	D	0.000000	0.999997	0.58761	D	1.585	0.39878	L	0.26	0.65747	T	-0.68	0.19509	N	0.831	0.83371	-0.4457	0.70542	T	0.355	0.71819	T	10	0.61814845	0.67824	D	0.032566	0.54358	D	0.305	0.62620	0.593	0.72247	0.905933795161	0.90499	0.7947709344029719	0.79430	0.105715252096	0.11951	0.45571911335	0.32725	T	0.12538	0.45105	T	0.219973	0.75774	D	0.0782002	0.75458	D	0.921487033367157	0.58115	D	0.634936	0.26722	T	0.42931345	0.62707	0.3765838	0.62777	0.42931345	0.62707	0.3765838	0.62777	-8.107	0.61798	D	.	.	0.249	0.55597	B	.;.;.;.	.;.;.;.	4.142148	0.62066	24.4	0.99134366332842261	0.53356	0.89479	0.49970	D	AEFDBI	0.724658	0.67389	D	0.533460958513611	0.69081	5.306683	0.499376966088003	0.67949	5.153089	0.487339258662822	0.20834	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.2	5.2	0.71720	4.006000	0.56798	10.975000	0.84560	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	1.0:0.0:0.0:0.0	11.370	0.48936	867	0.32089	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr8	94194651	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,970	6	1	0	0
chr8	94538296	94538296	C	T	exonic	VIRMA	.	nonsynonymous SNV	VIRMA:NM_015496:exon3:c.G230A:p.S77N,VIRMA:NM_183009:exon3:c.G230A:p.S77N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0163592134294	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1285460893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.567e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.006	0.63226	D	0.001	0.83351	D	0.969	0.56768	D	0.766	0.56676	P	0.000002	0.62929	N	0.100969	0.999472	0.48716	D	1.7	0.43825	L	0.79	0.49068	T	-0.76	0.24026	N	0.331	0.47115	-0.7911	0.55665	T	0.194	0.54754	T	10	0.28053245	0.45629	T	0.016359	0.37579	T	0.112	0.31546	0.277	0.23004	0.082315109003	0.07666	0.5264476848178173	0.52568	0.674519262934	0.59648	0.825277090073	0.85839	D	0.027878	0.20317	T	-0.12081	0.32992	T	-0.411311	0.32073	T	0.808607220649719	0.46948	D	0.756024	0.37907	T	0.32336655	0.54923	0.25810477	0.51538	0.32336655	0.54923	0.25810477	0.51537	-4.193	0.26650	T	.	.	0.401	0.65564	A	.;.	.;.	3.528875	0.49502	22.8	0.99385164581692809	0.62068	0.93864	0.59412	D	AEFBI	0.466537	0.51414	N	0.588624804301314	0.72466	5.809895	0.636146472912038	0.77583	6.707344	0.963344535164349	0.28684	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.57	5.57	0.84021	5.885000	0.69480	5.885000	0.50690	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.540	0.95264	739	0.53257	Virilizer, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	35	chr8	94538296	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,105,1575	6	1	0	0
chr8	95057918	95057918	C	T	exonic	NDUFAF6	.	nonsynonymous SNV	NDUFAF6:NM_001354517:exon8:c.C650T:p.S217L,NDUFAF6:NM_001354521:exon8:c.C650T:p.S217L,NDUFAF6:NM_001330582:exon9:c.C707T:p.S236L,NDUFAF6:NM_152416:exon9:c.C983T:p.S328L,NDUFAF6:NM_001354515:exon10:c.C707T:p.S236L,NDUFAF6:NM_001354518:exon10:c.C650T:p.S217L,NDUFAF6:NM_001354519:exon10:c.C650T:p.S217L,NDUFAF6:NM_001354529:exon10:c.C527T:p.S176L,NDUFAF6:NM_001354531:exon10:c.C527T:p.S176L,NDUFAF6:NM_001354533:exon10:c.C527T:p.S176L,NDUFAF6:NM_001354516:exon11:c.C827T:p.S276L,NDUFAF6:NM_001354527:exon11:c.C527T:p.S176L,NDUFAF6:NM_001354528:exon11:c.C527T:p.S176L,NDUFAF6:NM_001354530:exon11:c.C527T:p.S176L,NDUFAF6:NM_001354532:exon11:c.C527T:p.S176L,NDUFAF6:NM_001354514:exon12:c.C707T:p.S236L,NDUFAF6:NM_001354522:exon12:c.C527T:p.S176L,NDUFAF6:NM_001354524:exon12:c.C527T:p.S176L,NDUFAF6:NM_001354525:exon12:c.C527T:p.S176L	Leigh syndrome due to mitochondrial complex I deficiency, Autosomal recessive, Mitochondrial	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.0243720923091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.046	0.53072	D	0.791	0.44643	P	0.313	0.41496	B	0.280469	0.03830	N	1.674980	1	0.81001	D	0.96	0.23930	L	-0.76	0.73417	T	-2.19	0.49352	N	0.349	0.39052	-0.5267	0.67666	T	0.450	0.78461	T	10	0.36003673	0.52657	T	0.024372	0.47357	T	0.470	0.76421	0.607	0.73945	0.763768793217	0.76161	0.5775264071291213	0.57681	0.16228382811	0.18309	0.506675839424	0.39758	T	0.030264	0.34105	T	0.312373	0.83922	D	0.210926	0.83712	D	0.741395890712738	0.42812	D	0.907809	0.67374	D	0.1580848	0.35584	0.15488759	0.36332	0.1580848	0.35584	0.15488759	0.36331	-9.651	0.71796	D	.	.	0.161	0.35519	B	.;.;.	.;.;.	4.229555	0.64035	24.7	0.99807602800296991	0.89174	0.92237	0.55252	D	AEFBI	0.403197	0.47698	N	0.297808461487516	0.56039	3.767967	0.413235580510379	0.62389	4.453411	0.999999998830363	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	6.04	6.04	0.98025	4.090000	0.57417	7.580000	0.60937	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.366	0.94454	862	0.33134	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr8	95057918	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,873	6	1	0	0
chr8	95247720	95247720	T	C	exonic	C8orf37	.	nonsynonymous SNV	C8orf37:NM_001363260:exon5:c.A425G:p.K142R,C8orf37:NM_177965:exon6:c.A521G:p.K174R	Cone-rod dystrophy 16, Autosomal recessive;Retinitis pigmentosa 64, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	267667	not_provided|Cone-rod_dystrophy_16|Retinitis_pigmentosa|not_specified	MedGen:C3661900|MONDO:MONDO:0013786,MedGen:C3281045,OMIM:614500|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.167	0.0259562080629	0.0004	0.000998403	0.0007	0	0	0	0	0.0010	0.0011	0.0013	0.0006727	104	154602	rs148114532	0.0005	0.0005	0.0004	0.0006	0.0014	0.0005	0.0004	0.0012	0.0011	0	2.246e-05	0.0122	0	0	0.0010	0.0002	0.0012	0.0014	0.0004	0.0004	0.0004	0.0005	0.0025	0.0004	0.0003	0.0014	0.0011	0	0	0	0.0112	0	0	0	0.0002	0	0.0025	0.293	0.14843	T	0.45	0.12957	T	0.433	0.35643	B	0.127	0.32738	B	0.007277	0.31496	N	0.355327	0.95456	0.26365	N	2.045	0.56016	M	-1.65	0.82625	D	-1.2	0.30555	N	0.126	0.11912	-0.5507	0.66760	T	0.422	0.76670	T	10	0.0063038766	0.00142	T	0.025956	0.48901	D	0.167	0.42761	.	.	0.606927088724	0.60377	0.19837312854740127	0.19754	0.159409428021	0.17987	.	.	.	0.310923	0.68285	T	-0.384855	0.02902	T	-0.376035	0.36184	T	0.0410627918392547	0.03883	T	0.80032	0.44603	T	0.08940373	0.20888	0.050609626	0.07978	0.08940373	0.20887	0.050609626	0.07978	-3.663	0.18773	T	0.198540064356277	0.26293	0.075	0.05447	B	.	.	1.920467	0.24388	16.38	0.99559109321019845	0.71645	0.73250	0.35833	D	AEFBIJ	0.125209	0.24161	N	-0.258030776434696	0.30784	1.719755	-0.237901257197043	0.30190	1.697726	0.770546019552101	0.23664	0.638212	0.43195	0	0.588066	0.40923	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.42	1.45	0.21708	0.558000	0.23174	2.323000	0.32147	0.665000	0.62972	0.934000	0.32416	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.3813:0.6187	13.087	0.58562	787	0.46738	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1004.63	33	chr8	95247720	.	T	C	1004.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.186;DP=269;ExcessHet=0;FS=0.757;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=0.325;SOR=0.599	GT:AD:DP:GQ:PL	0/1:51,46:97:99:1015,0,1191	6	0	1	0
chr8	96231832	96231832	A	T	exonic	UQCRB	.	nonsynonymous SNV	UQCRB:NM_001254752:exon3:c.T200A:p.L67Q,UQCRB:NM_006294:exon3:c.T200A:p.L67Q,UQCRB:NM_001199975:exon4:c.T104A:p.L35Q	Mitochondrial complex III deficiency, nuclear type 3, Autosomal recessive	17	1487	14	4	0	22	0.00734312	.	.	.	272291	UQCRB-related_disorder|not_provided|Mitochondrial_complex_III_deficiency_nuclear_type_3	.|MedGen:C3661900|MONDO:MONDO:0014064,MedGen:C3554606,OMIM:615158	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.572	0.0206000171194	0.0006	0.000798722	0.0013	0	0.0003	0.0001	0.0002	0.0008	0.0022	0.0058	0.0010996	170	154602	rs139283183	0.0008	0.0008	0.0006	0.0011	0.0059	0.0008	0.0008	0.0055	0.0053	0	0.0006	0.0019	2.519e-05	9.363e-05	0.0054	0.0005	0.0009	0.0059	0.0007	0.0007	0.0005	0.0009	0.0062	0.0006	0.0006	0.0045	0.0039	4.81e-05	0	0.0010	0.0017	0	0	0.0034	0.0007	0.0009	0.0062	0.012	0.55530	D	0.106	0.53072	T	0.999	0.77913	D	0.974	0.73157	D	0.000014	0.62929	D	0.069588	0.999996	0.58761	D	3.11	0.87757	M	0.87	0.46412	T	-4.21	0.75776	D	0.912	0.91391	-0.3279	0.74194	T	0.302	0.67270	T	10	0.06909698	0.09865	T	0.021	0.43227	T	0.572	0.82629	.	.	0.549036597592	0.54559	0.7112417333512945	0.71066	0.325846186387	0.34731	0.531885385513	0.43300	T	0.181884	0.53370	T	-0.0401026	0.45933	T	0.171538	0.81501	D	0.354146242141724	0.27180	T	0.864413	0.56163	D	0.817386	0.85045	0.6182653	0.77771	0.8437003	0.86875	0.5981718	0.76664	-4.024	0.24162	T	0.2855400361828851	0.38147	0.684	0.72303	P	.;.;.;.	.;.;.;.	4.572883	0.72161	25.8	0.99420801887832366	0.63742	0.97504	0.75178	D	AEFDGBHCI	0.933407	0.92527	D	0.738061754990519	0.82126	7.686163	0.633761207554803	0.77406	6.673302	0.99999999925275	0.74766	0.741868	0.97996	0	0.774882	0.99574	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	8.977000	0.93019	10.965000	0.84489	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.842000	0.39752	1.0:0.0:0.0:0.0	13.821	0.62813	906	0.23090	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.001359	0.000000	0.000000	0.008621	0.009146	0.007576	0.07143	1893.46	43	chr8	96231832	.	A	T	1893.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.711;DP=326;ExcessHet=0;FS=4.355;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=0.275;SOR=0.41	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,103,1194	6	0	1	0
chr8	97277010	97277010	T	C	exonic	TSPYL5	.	nonsynonymous SNV	TSPYL5:NM_033512:exon1:c.A835G:p.S279G	.	433	1080	8	1	0	10	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0120280513163	0.0047	0.00159744	0.0035	0.0013	0.0023	0	0.0026	0.0049	0.0022	0.0024	0.0037386	578	154602	rs151015596	0.0059	0.0059	0.0061	0.0058	0.0070	0.0058	0.0058	0.0069	0.0068	0.0010	0.0030	0.0004	0	0.0030	0.0054	0.0070	0.0051	0.0028	0.0042	0.0042	0.0043	0.0040	0.0071	0.0039	0.0038	0.0066	0.0064	0.0009	0	0.0035	0.0006	0.0002	0.0026	0.0068	0.0071	0.0043	0.0035	0.013	0.53900	D	0.032	0.53426	D	0.051	0.22415	B	0.063	0.27082	B	0.055407	0.22644	N	0.320230	0.994656	0.23472	N	1.845	0.48678	L	1.49	0.31470	T	-1.58	0.38151	N	0.145	0.14622	-1.0444	0.16000	T	0.048	0.20672	T	10	0.0062108934	0.00140	T	0.012028	0.30231	T	0.065	0.18881	.	.	0.082315109003	0.07666	0.4114783858243395	0.41063	0.581322784545	0.53937	0.383722424507	0.22783	T	0.018951	0.15187	T	-0.482428	0.00716	T	-0.461186	0.26469	T	0.0188990499795032	0.00600	T	0.754725	0.37732	T	0.17266285	0.37970	0.13178042	0.31637	0.17266285	0.37969	0.13178042	0.31636	-5.714	0.43818	T	.	.	0.159	0.35162	B	.	.	2.780143	0.36519	20.3	0.99578539910979413	0.72861	0.67487	0.33450	D	AEFDBCI	0.216248	0.34152	N	-0.232850280834168	0.31792	1.78633	-0.154583948683123	0.33232	1.898845	0.999999810905252	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.662677	0.59975	0	0.536845	0.12434	2	.	.	4.4	4.4	0.52402	2.791000	0.47520	3.640000	0.39343	0.665000	0.62972	0.966000	0.33990	0.998000	0.33993	0.644000	0.32530	0.0:0.0:0.0:1.0	10.313	0.42902	776	0.48302	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.005435	0.000000	0.050000	0.000000	0.006098	0.003788	0.07143	2243.83	38	chr8	97277010	.	T	C	2243.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.937;DP=361;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=1.21;SOR=0.703	GT:AD:DP:GQ:PL	0/1:61,94:155:99:2254,0,1520	6	0	1	0
chr8	97930977	97930977	C	T	exonic	MATN2	.	nonsynonymous SNV	MATN2:NM_001317748:exon3:c.C167T:p.A56V,MATN2:NM_002380:exon3:c.C167T:p.A56V,MATN2:NM_030583:exon3:c.C167T:p.A56V	.	431	1005	81	5	0	91	0.0433127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	.	0.0024	0.00379393	0.0051	0.0007	0.0047	0	0.0011	0.0045	0.0214	0.0167	0.0044113	682	154602	rs138635803	0.0033	0.0033	0.0028	0.0038	0.0368	0.0032	0.0032	0.0328	0.0312	0.0008	0.0049	0.0187	2.522e-05	0.0008	0.0368	0.0020	0.0056	0.0157	0.0028	0.0028	0.0025	0.0031	0.0126	0.0026	0.0025	0.0101	0.0092	0.0003	0	0.0052	0.0213	0.0002	9.418e-05	0.0340	0.0025	0.0080	0.0126	0.256	0.17126	T	0.477	0.12704	T	0.363	0.37483	B	0.311	0.41430	B	0.006445	0.32025	N	0.220361	0.859202	0.81001	D	0.695	0.17993	N	-1.14	0.77843	T	1.46	0.00775	N	0.165	0.27197	-0.7608	0.57362	T	0.161	0.49681	T	10	0.01770696	0.00380	T	.	.	.	0.228	0.52768	.	.	0.836741868336	0.83518	0.530535038014803	0.52977	0.192949307211	0.21626	0.479947000742	0.36049	T	0.015811	0.13192	T	-0.398691	0.02362	T	-0.333144	0.41118	T	0.0253921043202583	0.01324	T	0.845515	0.52437	T	0.065625004	0.14045	0.07151575	0.15323	0.065625004	0.14044	0.07151575	0.15323	-1.29	0.01734	T	.	.	0.13	0.28377	B	.;.;.;.	.;.;.;.	2.482416	0.32012	18.91	0.9952394340556775	0.69407	0.61361	0.31462	D	AEFDBI	0.115443	0.22698	N	0.102348143987851	0.46573	2.895542	0.257965852461295	0.53105	3.481049	0.999999994929606	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.64	4.76	0.60189	4.001000	0.56758	3.327000	0.37595	0.545000	0.25583	1.000000	0.71638	0.998000	0.33993	0.996000	0.76049	0.0:0.729:0.0:0.271	5.367	0.15419	853	0.34956	.;von Willebrand factor, type A;.;von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025680	0.015152	0.021739	0.049708	0.000000	0.008621	0.033537	0.007576	0.2143	1889.05	28	chr8	97930977	.	C	T	1889.05	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.632;DP=239;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.85;SOR=0.688	GT:AD:DP:GQ:PL	0/1:24,27:51:99:640,0,612	4	0	3	0
chr8	98018107	98018107	C	T	exonic	MATN2	.	nonsynonymous SNV	MATN2:NM_001317748:exon11:c.C1687T:p.R563C,MATN2:NM_002380:exon12:c.C1810T:p.R604C,MATN2:NM_030583:exon12:c.C1810T:p.R604C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.0893456460799	8e-05	0.000199681	0.0002	0	0.0003	0.0003	0	0.0001	0	0.0008	0.000207	32	154602	rs367737640	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0007	0.0006	2.988e-05	0.0004	0	0.0009	0.0001	0	0.0002	0.0003	0.0005	0.0002	0.0002	0.0003	0.0001	0.0006	0.0002	0.0001	0.0002	0.0002	4.812e-05	0	0.0003	0	0.0002	9.422e-05	0	0.0003	0	0.0006	0.03	0.55530	D	0.094	0.40110	T	0.965	0.56013	D	0.345	0.49608	B	0.299748	0.14619	N	0.643455	0.852989	0.43612	D	1.545	0.39105	L	-4.01	0.96370	D	-0.98	0.25986	N	0.317	0.39760	-0.4972	0.68750	T	0.270	0.64109	T	10	0.17793429	0.32852	T	0.089346	0.75310	D	0.477	0.76881	.	.	0.970991539935	0.97068	0.7257048862356941	0.72514	0.765395177526	0.64468	0.205249249935	0.00625	T	0.253892	0.62447	T	-0.106142	0.35407	T	-0.0107465	0.69636	D	0.09102502545614	0.11339	T	0.39616	0.13467	T	0.4005751	0.60772	0.1777597	0.40399	0.4005751	0.60772	0.1777597	0.40398	-11.422	0.81922	D	.	.	0.186	0.40262	B	.;.;.;.;.	.;.;.;.;.	3.950905	0.57877	23.9	0.9988602177165381	0.96126	0.82808	0.41986	D	AEFDGBHIJ	0.696004	0.65449	D	0.0349212324913726	0.43451	2.63764	-0.0250816159412914	0.38586	2.27544	0.999999974044406	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.2	4.28	0.50183	4.603000	0.60812	2.819000	0.34952	0.599000	0.40250	0.381000	0.26014	0.047000	0.21741	0.002000	0.04165	0.3278:0.6722:0.0:0.0	12.597	0.55830	815	0.41851	.;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;.;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1089.45	36	chr8	98018107	.	C	T	1089.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.822;DP=292;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=-1.324;SOR=0.69	GT:AD:DP:GQ:PL	0/1:56,48:104:99:1100,0,1242	6	0	1	0
chr8	98021213	98021213	G	A	exonic	MATN2	.	nonsynonymous SNV	MATN2:NM_001317748:exon12:c.G1705A:p.V569I,MATN2:NM_002380:exon13:c.G1828A:p.V610I,MATN2:NM_030583:exon13:c.G1828A:p.V610I	.	433	1047	41	1	0	43	0.0201217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0083	0.00479233	0.0098	0.0012	0.0027	0.0001	0.0071	0.0121	0.0078	0.0168	0.0093336	1443	154602	rs61729731	0.0094	0.0094	0.0089	0.0099	0.0187	0.0093	0.0092	0.0180	0.0176	0.0016	0.0022	0.0129	0.0002	0.0081	0.0161	0.0095	0.0084	0.0187	0.0075	0.0075	0.0075	0.0074	0.0162	0.0071	0.0070	0.0133	0.0122	0.0012	0.0318	0.0024	0.0153	0.0012	0.0069	0.0068	0.0117	0.0066	0.0162	0.093	0.31532	T	0.1	0.48855	T	0.001	0.07471	B	0.003	0.08700	B	0.304241	0.14544	N	0.631691	0.519229	0.31883	D	0.205	0.09354	N	1.57	0.97317	T	-0.13	0.08971	N	0.082	0.10056	0.039	0.83023	D	0.686	0.89169	D	10	0.008711696	0.00197	T	.	.	.	0.061	0.17616	.	.	0.839547833385	0.83801	0.48597135079498666	0.48517	0.156403761486	0.17651	0.253704488277	0.04168	T	0.070677	0.34018	T	-0.301915	0.08479	T	-0.19152	0.55448	T	0.0017796205268481	0.00018	T	0.80472	0.47619	T	0.043093473	0.06656	0.066421196	0.13602	0.043093473	0.06656	0.066421196	0.13602	-3.801	0.28720	T	.	.	0.068	0.02797	B	.;.;.;.;.	.;.;.;.;.	0.994950	0.13731	10.27	0.97130447718080226	0.32495	0.32416	0.24580	N	AEFDGBI	0.396125	0.47272	N	-0.714072352227259	0.15626	0.7891043	-0.620722908807034	0.18961	1.015249	0.999960451823212	0.48965	0.706298	0.61202	0	0.491513	0.07743	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.7	1.44	0.21647	-0.450000	0.06877	-0.053000	0.12521	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.964000	0.52637	0.3342:0.0:0.6658:0.0	8.639	0.33130	818	0.41518	.;EGF-like calcium-binding domain|EGF-like domain;.;.;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.004076	0.005848	0.000000	0.017241	0.006098	0.011364	0.07143	694.83	42	chr8	98021213	.	G	A	694.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.415;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=2.88;SOR=0.804	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	6	0	1	0
chr8	99832387	99832387	A	G	exonic	VPS13B	.	nonsynonymous SNV	VPS13B:NM_017890:exon52:c.A9424G:p.S3142G,VPS13B:NM_152564:exon52:c.A9349G:p.S3117G	Cohen syndrome, Autosomal recessive	72	1369	76	5	0	86	0.0304533	.	.	.	101771	Cohen_syndrome|Inborn_genetic_diseases|not_specified|not_provided	MONDO:MONDO:0008999,MedGen:C0265223,OMIM:216550,Orphanet:193|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.093	.	0.0043	0.00579073	0.0190	0.0017	0.0085	0	0.0162	0.0169	0.0288	0.0305	0.0056726	877	154602	rs113671330	0.0077	0.0072	0.0070	0.0085	0.0320	0.0076	0.0076	0.0276	0.0259	0.0017	0.0025	0.0206	6.41e-05	0.0038	0.0320	0.0067	0.0088	0.0259	0.0069	0.0066	0.0063	0.0076	0.0257	0.0065	0.0063	0.0215	0.0199	0.0012	0	0.0031	0.0255	0.0003	0.0064	0.0303	0.0084	0.0096	0.0257	0.293	0.15561	T	0.232	0.24987	T	0.111	0.26235	B	0.041	0.23986	B	0.000053	0.53742	N	0.157724	0.957555	0.81001	D	0.995	0.25082	L	-0.5	0.70597	T	-1.9	0.44284	N	0.276	0.33687	-0.8517	0.51850	T	0.159	0.49296	T	10	0.0035758317	0.00065	T	.	.	.	0.093	0.26882	.	.	0.653813299475	0.65093	0.2101324214411371	0.20929	0.158005701542	0.17844	0.340887725353	0.16572	T	0.11923	0.44060	T	-0.369077	0.03641	T	-0.280618	0.46741	T	0.0234115201300916	0.01073	T	0.616038	0.23564	T	0.15742865	0.35473	0.14939047	0.35274	0.17221728	0.37900	0.14939047	0.35273	-2.926	0.09406	T	0.7913050563428241	0.86969	0.077	0.06387	B	.;.	.;.	2.110446	0.26858	17.26	0.9592728960765865	0.28206	0.94451	0.61208	D	AEFBI	0.198077	0.32496	N	-0.180351885292511	0.33954	1.932295	-0.0107343764997269	0.39228	2.322809	0.852320626362985	0.25068	0.615465	0.37627	0	0.596877	0.49441	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.55	4.4	0.52402	2.811000	0.47685	2.651000	0.33816	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.992000	0.67800	0.9283:0.0:0.0717:0.0	11.151	0.47683	473	0.77910	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.016734	0.000000	0.013661	0.008876	0.000000	0.017241	0.027950	0.034351	0.07143	1505.44	42	chr8	99832387	.	A	G	1505.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.002;DP=388;ExcessHet=0;FS=6.17;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.042;SOR=1.286	GT:AD:DP:GQ:PL	0/0:85,0:85:99:0,120,1800	6	0	1	0
chr8	99962750	99962750	T	C	exonic	RGS22	.	nonsynonymous SNV	RGS22:NM_001286693:exon24:c.A3184G:p.N1062D,RGS22:NM_001286692:exon26:c.A3691G:p.N1231D,RGS22:NM_015668:exon26:c.A3727G:p.N1243D	.	441	1075	6	0	0	6	0.00278293	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0136603864234	.	.	0.0002	0	8.693e-05	0	0	3.007e-05	0	0.0016	0.000194	30	154602	rs12546559	0.0001	0.0001	6.136e-05	0.0001	0.0014	8.998e-05	8.481e-05	0.0012	0.0011	0	0	0	0	0	0.0007	2.16e-05	9.955e-05	0.0014	3.944e-05	3.94e-05	5.141e-05	2.691e-05	0.0006	1.716e-05	1.13e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	4.411e-05	0	0.0006	0.328	0.13219	T	0.533	0.12107	T	0.281	0.34918	B	0.11	0.37837	B	0.012013	0.29322	N	0.220011	1	0.08975	N	2.075	0.57047	M	1.46	0.32238	T	-0.36	0.16393	N	0.154	0.24385	-1.0453	0.15738	T	0.066	0.27225	T	10	0.01876694	0.00411	T	0.01366	0.33231	T	0.042	0.11227	.	.	0.525664996154	0.52213	0.16901058394887333	0.16821	0.127101656324	0.14323	0.385580599308	0.23045	T	0.002015	0.08662	T	-0.606184	0.00134	T	-0.693959	0.06162	T	0.029836356761753	0.01964	T	0.634137	0.24845	T	0.053219397	0.10038	0.06794445	0.14126	0.053219397	0.10038	0.06794445	0.14125	-2.934	0.09487	T	.	.	0.107	0.19879	B	.;.;.;.	.;.;.;.	1.524339	0.19565	14.33	0.97416287866221252	0.33850	0.61416	0.31478	D	AEFI	0.104255	0.20864	N	-0.404868317287991	0.25297	1.372252	-0.378263070191243	0.25646	1.411658	1.73111461959908E-4	0.05786	0.549168	0.22868	0	0.573888	0.26702	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	4.87	2.2	0.26966	0.460000	0.21635	1.272000	0.25297	0.609000	0.47794	0.886000	0.31111	0.722000	0.26360	0.305000	0.24618	0.0:0.0:0.3492:0.6508	9.160	0.36176	0	0.99858	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	118.83	19	chr8	99962750	.	T	C	118.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.4;DP=178;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.94;ReadPosRankSum=0.834;SOR=0.527	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1122	6	0	1	0
chr8	100137646	100137646	A	T	exonic	FBXO43	.	nonsynonymous SNV	FBXO43:NM_001029860:exon3:c.T1593A:p.N531K	.	657	859	1	5	0	11	0.00636206	.	.	.	2391372	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.065	0.0149192362661	.	.	0.0002	0	8.669e-05	0	0	9.033e-05	0	0.0008	0.0001358	21	154602	rs759048586	0.0001	0.0001	7.357e-05	0.0001	0.0011	9.476e-05	8.957e-05	0.0009	0.0008	2.991e-05	0	0	0	0	0.0009	4.409e-05	0.0002	0.0011	4.599e-05	4.597e-05	6.423e-05	2.69e-05	0.0006	2.109e-05	1.527e-05	0.0002	9e-05	0	0	0	0	0	0	0	5.88e-05	0	0.0006	0.037	0.43085	D	0.087	0.40747	T	0.792	0.44688	P	0.255	0.39216	B	0.026485	0.25911	N	0.464068	0.841823	0.35079	D	2.56	0.74772	M	0.63	0.53088	T	-2.47	0.53898	N	0.46	0.49692	-0.9293	0.44241	T	0.101	0.37417	T	10	0.10672566	0.19791	T	0.014919	0.35345	T	0.065	0.18881	0.389	0.41115	0.730967182232	0.72857	0.2843514943073435	0.28348	0.253366326615	0.27906	0.547137498856	0.45453	T	0.035125	0.23597	T	-0.437361	0.01340	T	-0.464395	0.26123	T	0.11268768920768	0.13701	T	0.687931	0.29705	T	0.11646189	0.27469	0.14810294	0.35022	0.11646189	0.27469	0.14810294	0.35021	-7.43	0.57116	T	.	.	0.530	0.65907	A	.	.	3.249242	0.44386	21.9	0.99768485723516431	0.85666	0.74910	0.36657	D	AEFDBI	0.272461	0.38809	N	-0.026882365640812	0.40641	2.416987	-0.0119717329308746	0.39174	2.318677	0.929346123174777	0.26965	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.76	0.747	0.17520	0.660000	0.24691	3.190000	0.36699	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.554:0.0:0.446:0.0	10.622	0.44675	0	0.99858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	543.53	35	chr8	100137646	.	A	T	543.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.144;DP=224;ExcessHet=0;FS=1.098;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-0.085;SOR=0.99	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1216	6	0	1	0
chr8	100264775	100264775	C	T	exonic	RNF19A	.	nonsynonymous SNV	RNF19A:NM_001353837:exon6:c.G1202A:p.R401H,RNF19A:NM_001353838:exon6:c.G1202A:p.R401H,RNF19A:NM_183419:exon6:c.G1202A:p.R401H,RNF19A:NM_001280539:exon7:c.G1202A:p.R401H,RNF19A:NM_015435:exon7:c.G1202A:p.R401H	.	434	1071	16	1	0	18	0.00833333	.	.	.	2821198	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.814	0.109291667989	0.0011	.	0.0017	0.0002	0.0002	0	0	0.0009	0.0022	0.0084	0.0014489	224	154602	rs138968684	0.0009	0.0009	0.0007	0.0011	0.0073	0.0008	0.0008	0.0065	0.0063	0.0005	0.0003	0.0010	0	3.745e-05	0.0073	0.0005	0.0012	0.0069	0.0005	0.0005	0.0005	0.0006	0.0056	0.0004	0.0004	0.0039	0.0034	0.0002	0	0.0005	0.0009	0	0	0.0102	0.0005	0.0005	0.0056	0.061	0.37118	T	0.049	0.48336	D	0.996	0.68779	D	0.732	0.55359	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.975	0.53506	M	-1.92	0.84773	D	-3.85	0.72353	D	0.944	0.95608	0.308	0.87678	D	0.627	0.86915	D	10	0.06466049	0.08607	T	0.109292	0.78620	D	0.814	0.94008	.	.	0.807124144544	0.80531	0.8714865030228935	0.87114	2.21629160257	0.95813	0.761706590652	0.76183	T	0.357901	0.72454	T	0.00774311	0.52716	T	0.242491	0.85266	D	0.367030411958694	0.27682	T	0.949705	0.80662	D	0.33311704	0.55725	0.20045108	0.43977	0.33311704	0.55725	0.20045108	0.43976	-8.926	0.67219	D	.	.	0.196	0.45966	B	.;.	.;.	5.489573	0.91466	32	0.99945723375009343	0.99901	0.99182	0.92439	D	AEFBI	0.900677	0.84649	D	0.678784106770142	0.78243	6.832305	0.696204668200833	0.82090	7.681772	0.999999999999492	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.17	5.17	0.70848	7.568000	0.81546	7.666000	0.64515	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	18.703	0.91590	248	0.90287	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008056	0.005051	0.012228	0.000000	0.000000	0.008621	0.003049	0.018939	0.07143	1892.83	35	chr8	100264775	.	C	T	1892.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.942;DP=347;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=0.608;SOR=0.714	GT:AD:DP:GQ:PL	0/1:83,84:167:99:1903,0,1751	6	0	1	0
chr8	100715486	100715486	G	A	exonic	PABPC1	.	nonsynonymous SNV	PABPC1:NM_002568:exon4:c.C619T:p.L207F	.	434	996	90	2	0	94	0.0450623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.0321915266204	.	.	0.0008	0.0011	0.0005	0.0001	0.0005	0.0006	0.0011	0.0018	3.84e-05	1	26028	rs200538577	0.0005	0.0068	0.0003	0.0006	0.0015	0.0005	0.0004	0.0013	0.0012	0.0009	0.0008	0.0003	0.0003	0.0005	0.0007	0.0004	0.0004	0.0015	1.976e-05	0.0003	2.574e-05	1.349e-05	6.563e-05	5.25e-06	2.46e-06	.	.	0	0	6.563e-05	0	0	0.0002	0	0	0	0	0.167	0.33585	T	0.241	0.25987	T	0.999	0.90584	D	0.987	0.92359	D	0.000038	0.55875	D	0.000000	0.999998	0.58761	D	2.615	0.76484	M	0.9	0.45248	T	-3.85	0.72353	D	0.673	0.79406	-0.1677	0.78484	T	0.430	0.77232	T	10	0.34286356	0.51309	T	0.032192	0.54080	D	0.352	0.67326	.	.	0.651505733821	0.64860	0.9496357464987214	0.94946	2.50878901569	0.97686	0.823625564575	0.85584	D	0.301209	0.67367	T	0.111036	0.65460	D	-0.0782811	0.65029	T	0.724288105964661	0.41916	D	0.842116	0.51841	T	0.6164814	0.73575	0.6622684	0.80207	0.6164814	0.73576	0.6622684	0.80208	-7.648	0.58645	D	.	.	0.961	0.88272	P	.;.;.;.	.;.;.;.	5.123957	0.85718	28.7	0.99849028324561662	0.92838	0.96200	0.67994	D	AEFBCI	0.946881	0.95683	D	0.540100640977737	0.69482	5.363063	0.580062317229085	0.73511	5.982518	0.999999999963179	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.03	5.03	0.67015	8.094000	0.89363	11.928000	0.99887	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.734	0.91711	257	0.89904	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008569	0.005051	0.002717	0.017544	0.000000	0.008621	0.009202	0.015152	0.07143	171.44	35	chr8	100715486	.	G	A	171.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.847;DP=348;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.42;MQRankSum=-10.84;QD=1.44;ReadPosRankSum=-1.377;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,12:119:99:0|1:100715486_G_A:182,0,4415:100715486	6	0	1	0
chr8	100715488	100715488	C	T	exonic	PABPC1	.	nonsynonymous SNV	PABPC1:NM_002568:exon4:c.G617A:p.R206H	.	435	994	91	2	0	95	0.0456073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.0174172121272	.	.	0.0008	0.0011	0.0005	0.0001	0.0005	0.0006	0.0011	0.0018	3.84e-05	1	26028	rs201157005	0.0005	0.0069	0.0003	0.0007	0.0015	0.0005	0.0005	0.0013	0.0012	0.0008	0.0007	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0015	2.634e-05	0.0004	2.574e-05	2.697e-05	6.562e-05	8.16e-06	5.15e-06	4.88e-06	1.83e-06	0	0	6.562e-05	0	0	9.498e-05	0	2.943e-05	0	0	0.104	0.32929	T	0.087	0.40747	T	0.114	0.26387	B	0.026	0.20792	B	0.000024	0.55875	D	0.000000	0.989803	0.44143	D	0.27	0.09956	N	-1.84	0.84195	D	-2.67	0.57110	D	0.39	0.50868	-0.7904	0.55706	T	0.034	0.14769	T	10	0.1279509	0.24336	T	0.017417	0.39111	T	0.200	0.48430	.	.	0.817802494989	0.81608	0.6879894380572398	0.68738	1.50341484679	0.87080	0.749547362328	0.74379	T	0.220124	0.58332	T	0.0812148	0.62184	D	-0.121117	0.61711	T	0.0662832285963091	0.08119	T	0.440256	0.19484	T	0.2739007	0.50457	0.17737965	0.40337	0.2739007	0.50457	0.17737965	0.40336	-5.419	0.41102	T	.	.	0.143	0.40114	B	.;.;.;.	.;.;.;.	4.551815	0.71641	25.7	0.99505552782187323	0.68322	0.87893	0.47592	D	AEFBCI	0.597824	0.59146	D	0.0267288125961019	0.43073	2.607469	0.217228135065218	0.50803	3.268583	0.999999999646868	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.03	5.03	0.67015	6.083000	0.70975	6.037000	0.52980	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.734	0.91711	257	0.89904	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007056	0.005051	0.002717	0.008772	0.000000	0.017241	0.012270	0.015152	0.07143	171.44	35	chr8	100715488	.	C	T	171.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.967;DP=351;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.41;MQRankSum=-10.84;QD=1.44;ReadPosRankSum=-1.254;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,12:119:99:0|1:100715486_G_A:182,0,4415:100715486	6	0	1	0
chr8	100715564	100715564	C	T	exonic	PABPC1	.	nonsynonymous SNV	PABPC1:NM_002568:exon4:c.G541A:p.A181T	.	439	1020	63	0	0	63	0.0299572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0340158553091	.	.	0.0025	0.0035	0.0022	0.0022	0.0029	0.0026	0.0045	0.0017	3.84e-05	1	26028	rs201575415	0.0002	0.0051	0.0002	0.0003	0.0012	0.0002	0.0002	0.0010	0.0009	0.0002	0.0003	0.0001	2.551e-05	0.0002	0.0002	0.0002	0.0002	0.0012	1.316e-05	0.0003	2.572e-05	0	.	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0.0002	0	0	0	0	0.064	0.36912	T	0.235	0.24987	T	0.935	0.52277	P	0.543	0.52749	P	0.000007	0.62929	D	0.000000	0.999998	0.58761	D	1.86	0.49225	L	-2.01	0.85468	D	-1.72	0.40850	N	0.516	0.58968	-0.4866	0.69129	T	0.348	0.71289	T	10	0.04839903	0.04285	T	0.034016	0.55387	D	0.169	0.43123	.	.	0.771171459251	0.76907	0.7074090065815354	0.70682	1.20548367747	0.80694	0.786288261414	0.79878	T	0.135364	0.46714	T	0.117018	0.66071	D	-0.0696881	0.65648	T	0.141958981752396	0.16443	T	0.819218	0.48387	T	0.4579477	0.64543	0.32566392	0.58480	0.4579477	0.64544	0.32566392	0.58479	-8.102	0.61764	D	.	.	0.410	0.65091	A	.;.;.;.	.;.;.;.	4.555899	0.71747	25.7	0.99762505917770328	0.85172	0.97559	0.75543	D	AEFDBCI	0.789396	0.71860	D	0.434520686034361	0.63332	4.564763	0.497820100196361	0.67844	5.138917	0.99999999998101	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	6.081000	0.70951	7.691000	0.65788	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	18.941	0.92581	257	0.89904	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019637	0.025253	0.008152	0.035088	0.000000	0.017241	0.033537	0.007576	0.1429	191.26	35	chr8	100715564	.	C	T	191.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.652;DP=292;ExcessHet=0.3476;FS=2.314;MLEAC=2;MLEAF=0.143;MQ=58.39;MQRankSum=-7.967;QD=1.31;ReadPosRankSum=0.165;SOR=0.42	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,10:81:99:0|1:100715564_C_T:186,0,2902:100715564	5	0	2	0
chr8	100715573	100715573	C	T	exonic	PABPC1	.	nonsynonymous SNV	PABPC1:NM_002568:exon4:c.G532A:p.E178K	.	441	1026	55	0	0	55	0.0261035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503	.	.	0.0219649	0.0025	0.0035	0.0022	0.0023	0.0029	0.0026	0.0045	0.0017	0.0042646	111	26028	rs77943211	0.0003	0.0051	0.0002	0.0004	0.0015	0.0002	0.0002	0.0013	0.0012	0.0002	0.0002	0.0002	2.555e-05	0.0002	0.0002	0.0002	0.0001	0.0015	1.316e-05	0.0002	2.572e-05	0	.	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0.0002	0	0	0	0	0.032	0.45756	D	0.015	0.61642	D	0.286	0.32207	B	0.061	0.45591	B	0.000005	0.62929	D	0.000000	1	0.81001	D	2.225	0.63025	M	-2.04	0.85703	D	-3.54	0.68651	D	0.823	0.83576	0.077	0.83756	D	0.512	0.81695	D	10	0.0101109445	0.00226	T	.	.	.	0.503	0.78538	.	.	0.953104725419	0.95260	0.8696903883109477	0.86934	1.38178511631	0.84794	0.873889565468	0.93120	D	0.372911	0.73700	T	0.375301	0.88405	D	0.301318	0.88258	D	0.243424355983734	0.22576	T	0.878012	0.59504	D	0.73998535	0.80291	0.5465805	0.73789	0.73998535	0.80293	0.5465805	0.73789	-14.561	0.94737	D	.	.	0.996	0.96595	P	.;.;.;.	.;.;.;.	5.082654	0.84829	28.4	0.99878284547104212	0.95491	0.98536	0.83832	D	AEFDBCI	0.934952	0.92909	D	0.584502628728173	0.72206	5.769507	0.61533588336354	0.76051	6.420702	1.0	0.98316	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	7.905000	0.86479	7.691000	0.65788	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	18.941	0.92581	257	0.89904	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.023162	0.040404	0.009511	0.043860	0.000000	0.017241	0.036585	0.007576	0.07143	171.5	35	chr8	100715573	.	C	T	171.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.09;DP=283;ExcessHet=0;FS=2.505;MLEAC=1;MLEAF=0.071;MQ=58.59;MQRankSum=-7.9;QD=2.32;ReadPosRankSum=-0.562;SOR=0.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,9:74:99:0|1:100715564_C_T:182,0,2702:100715564	6	0	1	0
chr8	103998243	103998243	G	A	exonic	RIMS2	.	nonsynonymous SNV	RIMS2:NM_001348499:exon15:c.G2479A:p.D827N,RIMS2:NM_001348500:exon15:c.G2479A:p.D827N,RIMS2:NM_001348505:exon15:c.G2620A:p.D874N,RIMS2:NM_001348509:exon15:c.G2479A:p.D827N,RIMS2:NM_014677:exon15:c.G2479A:p.D827N,RIMS2:NM_001348489:exon17:c.G3055A:p.D1019N,RIMS2:NM_001348494:exon17:c.G3196A:p.D1066N,RIMS2:NM_001348486:exon18:c.G3208A:p.D1070N,RIMS2:NM_001348487:exon18:c.G3067A:p.D1023N	.	442	1047	32	1	0	34	0.0159774	.	.	.	2821222	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.031	0.00636569129297	0.0034	0.00199681	0.0043	0.0011	0.0028	0	0.0047	0.0061	0.0067	0.0019	0.0040556	627	154602	rs182266368	0.0040	0.0041	0.0040	0.0041	0.0413	0.0039	0.0039	0.0370	0.0353	0.0015	0.0042	0.0158	0	0.0048	0.0413	0.0038	0.0055	0.0022	0.0035	0.0035	0.0036	0.0033	0.0045	0.0032	0.0031	0.0040	0.0039	0.0009	0	0.0040	0.0159	0	0.0037	0.0238	0.0045	0.0081	0.0010	0.468	0.10588	T	0.528	0.15554	T	0.328	0.33195	B	0.178	0.35748	B	.	.	.	.	1	0.81001	D	.	.	.	2.44	0.15843	T	0.16	0.05217	N	0.536	0.58798	-1.0343	0.19078	T	0.023	0.09604	T	9	0.005559504	0.00123	T	0.006366	0.16725	T	0.031	0.07369	.	.	0.200294437569	0.19612	.	.	.	.	.	.	.	0.059464	0.31122	T	-0.578152	0.00198	T	-0.599246	0.12875	T	0.0145750985717888	0.00299	T	0.913009	0.69301	D	.	.	.	.	.	.	.	.	-4.421	0.29840	T	.	.	0.105	0.29751	B	.;.;.;.	.;.;.;.	3.742474	0.53593	23.4	0.96533118320416411	0.30158	0.92319	0.55438	D	AEFI	0.647054	0.62237	D	-0.0542186269178862	0.39414	2.323939	0.117775738311659	0.45459	2.808616	0.772613454764295	0.23698	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.59	4.59	0.56297	4.990000	0.63609	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	16.328	0.82823	839	0.37672	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.034240	0.020202	0.032609	0.076023	0.000000	0.043103	0.024390	0.011364	0.1429	120.55	33	chr8	103998243	.	G	A	120.55	.	AC=2;AF=0.143;AN=14;DP=213;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=24.11;SOR=1.022	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1006	6	1	0	0
chr8	106684246	106684246	G	A	exonic	OXR1	.	nonsynonymous SNV	OXR1:NM_181354:exon4:c.G391A:p.V131I,OXR1:NM_001198532:exon5:c.G415A:p.V139I,OXR1:NM_001198533:exon6:c.G412A:p.V138I,OXR1:NM_018002:exon6:c.G412A:p.V138I	.	0	225	1	0	0	1	0.00221729	0.9985	0.758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.00507319851748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.426e-07	2.055e-06	0	1.478e-06	9.909e-07	0	0	.	.	0	0	0	0	0	0	9.909e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.22573	T	0.358	0.17696	T	0.033	0.35444	B	0.058	0.37394	B	0.000017	0.62929	D	0.069035	0.999177	0.81001	D	0.65	0.16133	N	0.85	0.47130	T	-0.24	0.14390	N	0.1	0.08227	-1.0421	0.16681	T	0.090	0.34546	T	9	0.3972751	0.55316	T	0.005073	0.12846	T	0.113	0.31778	0.593	0.72247	0.562844193612	0.55947	0.17618467320770606	0.17537	0.11953327444	0.13463	0.470785796642	0.34788	T	0.040135	0.25426	T	-0.0890489	0.38234	T	-0.365689	0.37391	T	0.576501786708832	0.35483	D	0.941106	0.78488	D	0.021742536	0.00794	0.044028085	0.05613	0.021742536	0.00794	0.044028085	0.05613	-7.509	0.58499	D	.	.	0.085	0.11124	B	.;.;.;.;.;.	.;.;.;.;.;.	4.050378	0.60035	24.2	0.99642620156945583	0.76756	0.95467	0.64837	D	AEFGBI	0.653414	0.62646	D	0.187192250573264	0.50584	3.247002	0.370227114768071	0.59735	4.153929	0.999006575544784	0.38186	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.75	5.75	0.90390	6.114000	0.71248	11.737000	0.95113	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.1147:0.1676:0.7177:0.0	6.999	0.23980	845	0.36510	.;.;LysM domain|LysM domain|LysM domain|LysM domain;LysM domain|LysM domain|LysM domain|LysM domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	592.45	60	chr8	106684246	.	G	A	592.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.23;DP=235;ExcessHet=0;FS=3.877;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-0.068;SOR=1.255	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1126	6	0	1	0
chr8	107284736	107284736	C	T	exonic	ANGPT1	.	nonsynonymous SNV	ANGPT1:NM_001314051:exon6:c.G551A:p.R184Q,ANGPT1:NM_001146:exon7:c.G1151A:p.R384Q,ANGPT1:NM_001199859:exon7:c.G1148A:p.R383Q	.	425	1080	17	0	0	17	0.00780891	.	.	.	700335	not_provided|Hereditary_angioedema_type_3|ANGPT1-related_disorder	MedGen:C3661900|MONDO:MONDO:0012526,MedGen:C1857728,OMIM:610618,Orphanet:100054|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.129	0.0196338407554	0.0007	0.00139776	0.0013	0.0002	0.0022	0	0	0.0017	0.0033	0.0007	0.0012936	200	154602	rs146465357	0.0009	0.0009	0.0009	0.0010	0.0359	0.0009	0.0009	0.0319	0.0303	0.0011	0.0025	0.0015	0	3.76e-05	0.0359	0.0007	0.0018	0.0006	0.0012	0.0012	0.0012	0.0012	0.0040	0.0011	0.0010	0.0032	0.0029	0.0002	0	0.0040	0.0020	0	0	0.0612	0.0013	0.0033	0	0.496	0.10148	T	0.624	0.07342	T	0.0	0.02946	B	0.003	0.08700	B	0.001264	0.39594	N	0.292338	0.946439	0.37527	D	-0.58	0.02282	N	-1.02	0.76300	T	1.42	0.01213	N	0.12	0.11054	-0.8169	0.54127	T	0.156	0.48704	T	10	0.004649788	0.00097	T	0.019634	0.42042	T	0.129	0.35316	.	.	0.548084970984	0.54464	.	.	1.09884931707	0.77656	0.208435475826	0.00746	T	0.105378	0.41579	T	-0.479626	0.00743	T	-0.466964	0.25844	T	0.0260462099909689	0.01412	T	0.670133	0.27879	T	0.088085026	0.20535	0.07744094	0.17252	0.088085026	0.20535	0.07744094	0.17251	-2.19	0.03992	T	.	.	0.066	0.04932	B	.;.;.;.	.;.;.;.	1.766831	0.22469	15.63	0.96285748806707572	0.29295	0.63144	0.31998	D	AEFDGHCIJ	0.350261	0.44376	N	-0.403306316873206	0.25353	1.375649	-0.203581745616146	0.31407	1.777156	0.999783491271583	0.43007	0.638212	0.43195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	5.73	3.93	0.44666	1.019000	0.29616	2.169000	0.31039	-0.171000	0.11205	0.859000	0.30595	1.000000	0.68203	0.910000	0.44547	0.0:0.7827:0.0:0.2173	9.188	0.36343	898	0.25240	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022659	0.025253	0.031250	0.046784	0.000000	0.051724	0.003049	0.000000	0.07143	731.63	35	chr8	107284736	.	C	T	731.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.81;DP=271;ExcessHet=0;FS=5.434;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.7;ReadPosRankSum=0.501;SOR=1.226	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1246	6	0	1	0
chr8	109293385	109293385	T	C	exonic	NUDCD1	.	nonsynonymous SNV	NUDCD1:NM_001128211:exon4:c.A512G:p.Y171C,NUDCD1:NM_032869:exon4:c.A599G:p.Y200C	.	435	1085	1	1	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.0104931334023	0.0004	0.000199681	0.0004	0.0005	0.0005	0	0.0003	0.0005	0	0.0004	0.0004981	77	154602	rs143861307	0.0010	0.0010	0.0010	0.0009	0.0012	0.0009	0.0009	0.0011	0.0011	0.0002	0.0004	0	0	0.0002	0.0012	0.0011	0.0012	0.0004	0.0006	0.0006	0.0007	0.0006	0.0011	0.0005	0.0005	0.0009	0.0008	0.0003	0	0.0005	0	0	9.43e-05	0	0.0011	0.0009	0.0002	0.152	0.24661	T	0.173	0.30143	T	0.614	0.48103	P	0.243	0.47596	B	0.002448	0.36537	N	0.305502	0.872063	0.35582	D	0.895	0.22405	L	2.25	0.17761	T	-2.12	0.48184	N	0.243	0.27673	-1.0505	0.14258	T	0.036	0.15596	T	10	0.06991866	0.10101	T	0.010493	0.27088	T	0.089	0.25827	.	.	0.346085882481	0.34212	0.4701788110986716	0.46936	0.137440798774	0.15499	0.400508612394	0.25139	T	0.011996	0.10618	T	-0.445566	0.01199	T	-0.437429	0.29097	T	0.0339865527767989	0.02635	T	0.875013	0.58582	D	0.10515926	0.24863	0.09678163	0.23008	0.10515926	0.24863	0.09678163	0.23008	-3.709	0.19747	T	.	.	0.061	0.01960	B	.;.	.;.	2.175300	0.27721	17.56	0.99040311473246412	0.51006	0.70138	0.34467	D	ALL	0.378925	0.46214	N	0.0376852363802117	0.43577	2.648	0.0850029565103844	0.43792	2.673823	0.999989038412076	0.51787	0.730579	0.87903	0	0.688494	0.66719	0	0.658983	0.55881	0	0.648885	0.59868	0	.	.	5.93	2.07	0.26004	1.245000	0.32393	-0.133000	0.11598	0.665000	0.62972	1.000000	0.71638	0.490000	0.25148	0.999000	0.91618	0.2427:0.0665:0.0:0.6908	6.438	0.21035	686	0.59327	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	794.63	33	chr8	109293385	.	T	C	794.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.317;DP=261;ExcessHet=0;FS=1.715;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.45;ReadPosRankSum=-0.721;SOR=0.953	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1019	6	0	1	0
chr8	109440737	109440737	T	A	exonic	PKHD1L1	.	stopgain	PKHD1L1:NM_177531:exon33:c.T3984A:p.Y1328X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1350448035	4.11e-06	4.104e-06	4.089e-06	4.131e-06	2.525e-05	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	2.525e-05	0	0	4.502e-06	0	0	6.575e-06	6.567e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.198	0.21839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58478	0.97200	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.527648	0.95354	34	0.99383810010875417	0.62024	0.74292	0.36342	D	AEFGI	0.174437	0.30156	N	0.369230992355125	0.59763	4.158371	0.164540371366805	0.47917	3.014894	0.172169224159337	0.17752	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	6.17	3.65	0.40985	0.358000	0.19952	0.626000	0.20179	0.665000	0.62972	0.987000	0.36337	0.938000	0.28711	0.849000	0.40138	0.0:0.2101:0.0:0.7899	7.562	0.27023	683	0.59664	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	114.63	35	chr8	109440737	.	T	A	114.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.366;DP=205;ExcessHet=0;FS=1.547;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.28;ReadPosRankSum=-0.452;SOR=1.085	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1153	6	0	1	0
chr8	109459753	109459753	T	-	exonic	PKHD1L1	.	frameshift deletion	PKHD1L1:NM_177531:exon47:c.7163delT:p.T2389Qfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	52.4	33	chr8	109459752	.	CT	C	52.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1053	6	0	1	0
chr8	112265476	112265476	T	A	exonic	CSMD3	.	nonsynonymous SNV	CSMD3:NM_001363185:exon56:c.A9023T:p.N3008I,CSMD3:NM_052900:exon58:c.A9116T:p.N3039I,CSMD3:NM_198123:exon60:c.A9623T:p.N3208I,CSMD3:NM_198124:exon61:c.A9503T:p.N3168I	.	425	1038	57	2	0	61	0.0285447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	.	0.0030	0.00419329	0.0046	0.0007	0.0016	0	0.0006	0.0050	0.0088	0.0118	0.0044437	687	154602	rs61759499	0.0045	0.0045	0.0042	0.0049	0.0248	0.0044	0.0044	0.0215	0.0202	0.0011	0.0023	0.0094	0.0002	0.0004	0.0248	0.0042	0.0053	0.0122	0.0034	0.0034	0.0037	0.0031	0.0102	0.0032	0.0031	0.0079	0.0071	0.0008	0	0.0020	0.0130	0	0.0003	0.0238	0.0050	0.0052	0.0102	0.259	0.20456	T	0.225	0.25827	T	0.02	0.49385	B	0.018	0.55692	B	0.000977	0.40836	D	0.211612	0.999992	0.58761	D	-1.115	0.00953	N	-0.14	0.65006	T	-3.09	0.63438	D	0.856	0.85238	-0.8346	0.53002	T	0.163	0.49864	T	10	0.0080629885	0.00183	T	.	.	.	0.097	0.27909	.	.	0.255117706274	0.25116	0.2820143294223687	0.28114	0.567525139074	0.53010	0.424648225307	0.28476	T	0.043682	0.26579	T	-0.441398	0.01269	T	-0.395783	0.33875	T	0.0381416662886477	0.03357	T	0.631037	0.32360	T	0.29920405	0.52834	0.23564972	0.48815	0.29920405	0.52833	0.23564972	0.48814	-7.349	0.58611	T	.	.	0.138	0.30022	B	.;.;.;.	.;.;.;.	3.411280	0.47324	22.4	0.97637824020420805	0.35063	0.96486	0.69378	D	AEFGI	0.713844	0.66651	D	0.13987230302269	0.48332	3.046874	0.270081304787182	0.53799	3.547272	0.998598772479356	0.37268	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.44	5.44	0.79348	2.710000	0.46837	5.043000	0.46929	0.609000	0.47794	0.972000	0.34453	1.000000	0.68203	0.887000	0.42601	0.0:0.0:0.0:1.0	15.778	0.78007	865	0.32612	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025706	0.010101	0.035326	0.023392	0.000000	0.034483	0.021472	0.011364	0.07143	1184.49	95	chr8	112265476	.	T	A	1184.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.466;DP=271;ExcessHet=0;FS=2.765;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=-2.225;SOR=0.432	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1176	6	0	1	0
chr8	117146976	117146976	G	A	exonic	SLC30A8	.	nonsynonymous SNV	SLC30A8:NM_173851:exon2:c.G94A:p.V32M	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0370692726648	.	.	3.303e-05	0	0	0	0	1.501e-05	0.0011	0.0001	2.59e-05	4	154602	rs757655293	1.573e-05	1.573e-05	1.089e-05	2.063e-05	0.0002	1.048e-05	8.75e-06	8.886e-05	7.054e-05	0	0	0	0	0	0	8.993e-06	0	0.0002	6.569e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.134	0.26300	T	0.226	0.25438	T	0.274	0.31856	B	0.071	0.27960	B	0.208985	0.03373	N	1.611180	1	0.08975	N	0.895	0.22405	L	-0.1	0.64264	T	-0.01	0.07155	N	0.191	0.20925	-0.9777	0.35526	T	0.140	0.45922	T	10	0.082049996	0.13500	T	0.037069	0.57386	D	0.045	0.12272	0.197	0.10975	0.253726318573	0.24972	0.13040017001168308	0.12965	0.0542703918584	0.05997	0.279448986053	0.07416	T	0.107648	0.42002	T	-0.369389	0.03625	T	-0.58685	0.13941	T	0.0382914617657661	0.03384	T	0.675932	0.28448	T	0.030562809	0.02742	0.044182133	0.05666	0.030562809	0.02742	0.044182133	0.05665	-4.808	0.34685	T	.	.	0.080	0.07889	B	.	.	0.399501	0.07708	4.384	0.94421057269766229	0.24828	0.08512	0.14431	N	AEFDGBI	0.155383	0.28057	N	-0.828764318975001	0.12579	0.6140083	-0.851271100430146	0.13257	0.6867243	4.97774587603419E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.65	0.358	0.15319	-0.034000	0.12176	-0.119000	0.11742	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.375000	0.26223	0.0:0.211:0.5481:0.2409	8.253	0.30897	956	0.09877	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1863.45	176	chr8	117146976	.	G	A	1863.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.951;DP=351;ExcessHet=0;FS=0.559;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=1.52;SOR=0.663	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1259	6	0	1	0
chr8	119846995	119846995	A	C	exonic	DSCC1	.	nonsynonymous SNV	DSCC1:NM_024094:exon4:c.T572G:p.I191S	.	448	1071	3	0	0	3	0.0013986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.520	0.0670795510791	0.0035	0.000998403	0.0036	0.0004	0.0036	0	0.0006	0.0055	0.0055	0.0005	0.0036869	570	154602	rs61753750	0.0041	0.0041	0.0042	0.0041	0.0051	0.0041	0.0040	0.0049	0.0049	0.0006	0.0030	0.0009	0	0.0006	0.0030	0.0051	0.0027	0.0005	0.0026	0.0026	0.0029	0.0022	0.0041	0.0024	0.0023	0.0037	0.0036	0.0008	0	0.0033	0.0009	0	0.0007	0.0034	0.0041	0.0080	0.0006	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.105	0.87672	M	0.55	0.54728	T	-5.1	0.83027	D	0.959	0.96871	-0.3389	0.73876	T	0.294	0.66602	T	10	0.0528602	0.05385	T	0.06708	0.70063	D	0.520	0.79583	.	.	0.74231337688	0.74000	0.9072185091075976	0.90694	1.015795043	0.74944	0.563850402832	0.47810	T	0.357688	0.72436	T	-0.00440514	0.51045	T	0.227435	0.84544	D	0.0652603585097393	0.07970	T	0.913209	0.69058	D	0.7840102	0.82901	0.68510467	0.81486	0.7840102	0.82903	0.68510467	0.81487	-11.421	0.81916	D	.	.	0.244	0.47805	B	.	.	4.247511	0.64452	24.7	0.99224553770171542	0.56026	0.98014	0.78880	D	AEFBI	0.665161	0.63408	D	0.661381521618492	0.77107	6.611514	0.579610829695313	0.73481	5.977297	0.998771411024771	0.37645	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.21	5.21	0.72005	5.922000	0.69759	11.056000	0.85368	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.827000	0.38976	1.0:0.0:0.0:0.0	13.655	0.61810	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.005051	0.006793	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	1145.46	77	chr8	119846995	.	A	C	1145.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.908;DP=256;ExcessHet=0;FS=0.892;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=0.32;SOR=0.571	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1253	6	0	1	0
chr8	120488314	120488314	A	G	exonic	MTBP	.	nonsynonymous SNV	MTBP:NM_022045:exon12:c.A1321G:p.T441A	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	0.0072	0.0081869	0.0023	0.0208	0.0012	0	0	0.0005	0.0023	0.0001	0.0021216	328	154602	rs73705079	0.0009	0.0010	0.0009	0.0009	0.0221	0.0009	0.0009	0.0207	0.0201	0.0221	0.0020	0.0004	0	0	0.0133	0.0003	0.0021	0.0002	0.0062	0.0062	0.0063	0.0061	0.0203	0.0059	0.0057	0.0192	0.0187	0.0203	0	0.0034	0	0	0	0.0136	0.0004	0.0085	0.0002	0.514	0.07401	T	0.498	0.11263	T	0.002	0.09854	B	0.002	0.06944	B	0.415794	0.12935	N	0.761051	1	0.08975	N	1.79	0.46772	L	.	.	.	-0.25	0.11008	N	0.133	0.12913	-1.0281	0.21070	T	0.016	0.06425	T	9	0.0036792457	0.00067	T	.	.	.	0.041	0.10877	.	.	0.151104730317	0.14643	0.1444410203532309	0.14367	0.147605214944	0.16655	0.266594558954	0.05701	T	0.032316	0.22431	T	-0.664382	0.00059	T	-0.71152	0.05218	T	0.000487948713852683	0.00004	T	0.510449	0.16283	T	0.03665509	0.04550	0.026101867	0.00682	0.03665509	0.04550	0.026101867	0.00682	-3.709	0.19451	T	.	.	0.074	0.05103	B	.	.	0.707193	0.10760	7.448	0.50440270083957073	0.04385	0.01682	0.05369	N	AEFGBI	0.021312	0.00936	N	-1.03108525949793	0.07963	0.3717751	-1.00980297621209	0.09568	0.4768195	0.0189973076549855	0.13118	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.97	0.358	0.15319	0.395000	0.20576	0.273000	0.16680	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.935000	0.47363	0.5239:0.1237:0.3524:0.0	7.409	0.26179	703	0.57489	MDM2-binding protein, central domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006048	0.010101	0.005435	0.011765	0.000000	0.017241	0.000000	0.000000	0.07143	427.53	18	chr8	120488314	.	A	G	427.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.85;DP=185;ExcessHet=0;FS=1.339;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=-0.249;SOR=1.015	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1007	6	0	1	0
chr8	123130284	123130284	A	T	exonic	TBC1D31	.	nonsynonymous SNV	TBC1D31:NM_001363156:exon14:c.A857T:p.D286V,TBC1D31:NM_001330606:exon15:c.A2042T:p.D681V,TBC1D31:NM_001363152:exon15:c.A2042T:p.D681V,TBC1D31:NM_001363153:exon15:c.A2120T:p.D707V,TBC1D31:NM_001363154:exon15:c.A2042T:p.D681V,TBC1D31:NM_001363155:exon15:c.A2042T:p.D681V,TBC1D31:NM_001145088:exon16:c.A2357T:p.D786V,TBC1D31:NM_001363148:exon16:c.A2357T:p.D786V,TBC1D31:NM_001363149:exon16:c.A2327T:p.D776V,TBC1D31:NM_001363150:exon16:c.A2357T:p.D786V,TBC1D31:NM_001363151:exon16:c.A2357T:p.D786V,TBC1D31:NM_145647:exon16:c.A2357T:p.D786V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.0914902257934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.841e-07	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.72154	T	0.219	0.33442	T	0.251	0.44599	B	0.051	0.40037	B	0.000291	0.46274	D	0.213241	1	0.81001	D	2.35	0.67516	M	-1.99	0.85320	D	-3.58	0.69118	D	0.598	0.72120	-0.3543	0.73429	T	0.399	0.75102	T	10	0.42114326	0.56872	T	0.09149	0.75716	D	0.399	0.71321	0.336	0.32491	0.734682175585	0.73231	0.5283691159433793	0.52760	0.112277597435	0.12667	0.47527474165	0.35407	T	0.06259	0.34162	T	0.143413	0.68648	D	-0.0317738	0.68250	D	0.887589931488037	0.53809	D	0.949405	0.80515	D	0.23559837	0.46398	0.21258712	0.45734	0.23559837	0.46398	0.21258712	0.45733	-7.067	0.54522	T	.	.	0.184	0.39881	B	.;.;.;.;.	.;.;.;.;.	3.430151	0.47670	22.5	0.9763021330646825	0.35017	0.98094	0.79547	D	AEFDGBHIJ	0.632860	0.61331	D	0.0305503559511904	0.43249	2.621517	0.139328232364394	0.46580	2.90164	0.999999959757085	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.63	3.23	0.36150	6.642000	0.74183	4.532000	0.43729	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.7912:0.138:0.0708:0.0	7.977	0.29326	960	0.08626	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	553.46	38	chr8	123130284	.	A	T	553.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.53;DP=242;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=1.55;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1070	6	0	1	0
chr8	124518865	124518865	C	T	exonic	TATDN1	.	nonsynonymous SNV	TATDN1:NM_001146160:exon2:c.G14A:p.G5E,TATDN1:NM_001317889:exon4:c.G155A:p.G52E,TATDN1:NM_032026:exon4:c.G155A:p.G52E	.	508	1004	8	2	0	12	0.00594059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.795	0.0685235195618	0.0018	0.000399361	0.0019	0.0002	0.0010	0	0.0003	0.0020	0.0011	0.0043	0.0017594	272	154602	rs149193849	0.0019	0.0019	0.0018	0.0020	0.0052	0.0018	0.0018	0.0038	0.0036	0.0001	0.0016	0.0020	0	0.0006	0.0052	0.0019	0.0019	0.0041	0.0017	0.0017	0.0018	0.0017	0.0029	0.0016	0.0015	0.0018	0.0017	0.0003	0.0548	0.0021	0.0014	0	0.0008	0	0.0021	0.0009	0.0029	0.011	0.78490	D	0.016	0.76473	D	1.0	0.90584	D	0.989	0.88582	D	0.000001	0.84330	D	0.053757	1	0.81001	D	3.2	0.89116	M	.	.	.	-6.88	0.95074	D	0.904	0.90476	0.428	0.89507	D	0.610	0.86195	D	9	0.054737598	0.05876	T	0.068524	0.70474	D	0.795	0.93266	.	.	0.462549850287	0.45878	0.9105556852021944	0.91029	0.0807488137742	0.09089	0.6107172966	0.54417	T	0.195552	0.55166	T	0.152488	0.69500	D	0.446117	0.93479	D	0.114162886416989	0.13850	T	0.981335	0.93623	D	0.9655988	0.97837	0.93067384	0.97141	0.9655988	0.97838	0.93067384	0.97141	-11.908	0.84399	D	.	.	0.918	0.88761	P	.;.;.;.;.	.;.;.;.;.	5.094519	0.85087	28.5	0.99051777367999327	0.51275	0.97822	0.77388	D	AEFGBI	0.866002	0.78529	D	0.628507714490646	0.74986	6.226619	0.641573244846014	0.77986	6.785937	0.999999999999354	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.44	5.44	0.79348	5.973000	0.70153	5.903000	0.50914	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.25	0.93908	829	0.39537	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004032	0.000000	0.002717	0.000000	0.000000	0.008621	0.018293	0.003788	0.08333	251.3	6	chr8	124518865	.	C	T	251.3	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.152;DP=116;ExcessHet=0;FS=1.82;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=-0.372;SOR=1.27	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,805	5	0	1	1
chr8	132010871	132010871	G	C	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon23:c.G2334C:p.K778N,EFR3A:NM_001323554:exon23:c.G2334C:p.K778N,EFR3A:NM_001323555:exon23:c.G2334C:p.K778N,EFR3A:NM_001323556:exon23:c.G2334C:p.K778N,EFR3A:NM_001323557:exon23:c.G2334C:p.K778N,EFR3A:NM_015137:exon23:c.G2442C:p.K814N,EFR3A:NM_001323558:exon24:c.G2493C:p.K831N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0112115321271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.09291	T	0.331	0.18505	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.045609	1	0.81001	D	1.5	0.37844	L	1.39	0.33842	T	-1.42	0.34992	N	0.644	0.66187	-1.0316	0.19937	T	0.165	0.50323	T	10	0.3977828	0.55351	T	0.011212	0.28600	T	0.153	0.40148	0.323	0.30387	0.671013503938	0.66823	0.5213184564664413	0.52054	0.403179438654	0.41262	0.826878428459	0.86083	D	0.01412	0.19191	T	-0.0782944	0.39993	T	-0.350241	0.39179	T	0.901563823223114	0.55432	D	0.946205	0.79443	D	0.38296613	0.59530	0.24603723	0.50104	0.38296613	0.59531	0.24603723	0.50103	-8.505	0.64462	D	.	.	0.885	0.86088	P	.;.;.	.;.;.	4.272375	0.65018	24.8	0.9978335014773505	0.86955	0.98829	0.87402	D	AEFGBI	0.883251	0.81200	D	0.678002983385951	0.78189	6.822127	0.731837545398783	0.84796	8.392965	0.999999999974235	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.727631	0.95156	0	.	.	6.02	6.02	0.97559	7.394000	0.79135	4.508000	0.43636	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.525	0.95196	871	0.31377	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	268.18	101	chr8	132010871	.	G	C	268.18	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-2.886;DP=842;ExcessHet=1.1394;FS=195.575;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=0.71;ReadPosRankSum=1.3;SOR=10.462	GT:AD:DP:GQ:PL	0/0:100,21:130:60:0,60,1669	4	0	3	0
chr8	132887272	132887272	G	A	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon9:c.G1900A:p.G634R	Thyroid dyshormonogenesis 3, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	307934	not_provided|Iodotyrosyl_coupling_defect	MedGen:C3661900|MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.617	0.0948808765826	0.0007	0.000599042	0.0005	0.0002	8.661e-05	0.0001	0	0.0007	0.0011	0.0006	0.0004334	67	154602	rs116417639	0.0003	0.0003	0.0003	0.0003	0.0014	0.0003	0.0003	0.0007	0.0005	9.059e-05	0.0001	0.0049	5.058e-05	5.666e-05	0.0014	0.0002	0.0006	0.0005	0.0004	0.0004	0.0004	0.0005	0.0017	0.0003	0.0003	0.0008	0.0006	0.0001	0	0.0004	0.0049	0	0	0	0.0004	0.0005	0.0017	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.000020	0.62929	D	0.000000	0.907534	0.27576	N	3.005	0.85968	M	-0.49	0.70365	T	-3.47	0.67824	D	0.795	0.79118	-0.0956	0.80200	T	0.569	0.84399	D	10	0.1050317	0.19394	T	0.094881	0.76330	D	0.617	0.85091	0.908	0.98109	0.959596170649	0.95916	0.724816337779018	0.72425	0.446712088932	0.44543	0.515296280384	0.40965	T	0.232402	0.59896	T	-0.0505514	0.44364	T	0.0345481	0.72574	D	0.098228020766643	0.12162	T	0.985835	0.95215	D	0.79846925	0.83808	0.7388399	0.84564	0.79846925	0.83809	0.7388399	0.84565	-8.264	0.62855	D	0.7997467873114139	0.87673	0.212	0.44002	B	.	.	4.761724	0.76996	26.6	0.99932072681677397	0.99439	0.94567	0.61586	D	AEFBI	0.536302	0.55457	D	0.67852147316638	0.78225	6.828881	0.583601032363015	0.73764	6.024218	0.982417560930401	0.30395	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.03	5.03	0.67015	4.523000	0.60261	11.637000	0.93754	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.389000	0.26536	0.0:0.0:1.0:0.0	17.538	0.87736	845	0.36510	Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1|Thyroglobulin type-1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	100.44	35	chr8	132887272	.	G	A	100.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.24;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=1.8;SOR=1.609	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr8	132893891	132893891	G	A	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon11:c.G2963A:p.R988H	Thyroid dyshormonogenesis 3, Autosomal recessive	0	1420	80	3	19	105	0.0293917	.	.	.	700402	not_provided|Iodotyrosyl_coupling_defect	MedGen:C3661900|MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.031	.	.	0.0113818	0.0062	0.0136	0.0065	0	0.0002	0.0047	0.0198	0.0125	0.0060931	942	154602	rs16893332	0.0039	0.0039	0.0036	0.0043	0.0326	0.0039	0.0038	0.0288	0.0273	0.0148	0.0069	0.0242	5.038e-05	3.744e-05	0.0326	0.0023	0.0071	0.0129	0.0076	0.0076	0.0075	0.0078	0.0141	0.0072	0.0071	0.0120	0.0116	0.0129	0.0694	0.0091	0.0271	0.0002	0	0.0272	0.0034	0.0095	0.0141	0.145	0.25154	T	0.23	0.25135	T	0.014	0.16867	B	0.002	0.06944	B	0.225609	0.03484	N	1.557920	1	0.08975	P	1.995	0.54099	M	-0.05	0.63403	T	-0.61	0.18042	N	0.072	0.04547	-1.0384	0.17802	T	0.130	0.43907	T	9	0.0039331317	0.00075	T	.	.	.	0.031	0.07369	.	.	0.489036454283	0.48535	0.4654018044957635	0.46459	0.0845940308932	0.09560	0.33510312438	0.15703	T	0.031147	0.21906	T	-0.600481	0.00145	T	-0.62365	0.10901	T	0.00297776578759739	0.00031	T	0.612539	0.23323	T	0.057231065	0.11362	0.022166258	0.00247	0.057231065	0.11362	0.022166258	0.00247	-4.793	0.34510	T	0.2324255815871423	0.31459	0.086	0.10449	B	.	.	1.354724	0.17631	13.28	0.93809713431198005	0.23783	0.05774	0.11706	N	ALL	0.057441	0.10699	N	-1.0196633219255	0.08196	0.383451	-1.04276711803798	0.08857	0.4376336	0.999999974337892	0.74766	0.500041	0.20204	0	0.59043	0.45803	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.14	-0.246	0.12380	-0.135000	0.10399	0.321000	0.17185	0.661000	0.55757	0.000000	0.06391	0.004000	0.18990	0.070000	0.16646	0.3158:0.2552:0.2984:0.1306	1.132	0.01640	808	0.43318	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	925.45	33	chr8	132893891	.	G	A	925.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.46;DP=247;ExcessHet=0;FS=2.006;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-2.447;SOR=1.045	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1231	6	0	1	0
chr8	132941528	132941528	C	A	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon26:c.C5219A:p.T1740K	Thyroid dyshormonogenesis 3, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	722859	not_provided|Iodotyrosyl_coupling_defect	MedGen:C3661900|MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.144	.	0.0080	0.00758786	0.0023	0.0262	0.0005	0	0	0	0	0	0.0021216	328	154602	rs16904791	0.0007	0.0007	0.0008	0.0006	0.0264	0.0007	0.0007	0.0249	0.0244	0.0264	0.0014	0	0	0	0.0010	8.993e-06	0.0016	2.319e-05	0.0075	0.0075	0.0078	0.0071	0.0259	0.0071	0.0069	0.0246	0.0241	0.0259	0	0.0030	0	0	0	0	7.349e-05	0.0033	0	0.002	0.72154	D	0.008	0.67890	D	0.514	0.37393	P	0.036	0.22909	B	0.180730	0.03180	N	1.642720	1	0.08975	N	2.19	0.61577	M	-0.25	0.67011	T	-2.13	0.48354	N	0.285	0.32259	-0.9220	0.45279	T	0.092	0.35010	T	10	0.008458972	0.00192	T	.	.	.	0.144	0.38394	.	.	0.810901720151	0.80912	0.4627720739836157	0.46196	0.0895148867953	0.10113	0.295309662819	0.09703	T	0.118532	0.43941	T	-0.510109	0.00501	T	-0.484563	0.23962	T	0.0241126761368785	0.01159	T	0.675332	0.28377	T	0.31504348	0.54219	0.17873062	0.40561	0.5080722	0.67568	0.17803042	0.40443	-3.043	0.10651	T	0.5186647486589467	0.59128	0.331	0.55278	B	.	.	1.747279	0.22230	15.53	0.96835020279510986	0.31282	0.06640	0.12657	N	AEFDGBI	0.105024	0.20996	N	-0.485131604309739	0.22568	1.205935	-0.526456082756643	0.21436	1.160	0.999968848663383	0.48965	0.500041	0.20204	0	0.59043	0.45803	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.61	3.83	0.43287	1.920000	0.39655	-0.005000	0.13145	-0.176000	0.10722	0.006000	0.17386	0.000000	0.08366	0.003000	0.05239	0.0:0.8253:0.0:0.1747	8.737	0.33697	672	0.60758	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.1429	3816.24	33	chr8	132941528	.	C	A	3816.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.15;DP=466;ExcessHet=0.3476;FS=4.468;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-0.367;SOR=0.498	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1214	5	0	2	0
chr8	133191182	133191182	C	T	exonic	CCN4	.	nonsynonymous SNV	CCN4:NM_001204869:exon1:c.C38T:p.T13I,CCN4:NM_001204870:exon1:c.C38T:p.T13I,CCN4:NM_003882:exon1:c.C38T:p.T13I,CCN4:NM_080838:exon1:c.C38T:p.T13I	.	430	1077	13	2	0	17	0.00783049	.	.	.	3292544	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.280	0.0356155637784	0.0005	0.000199681	0.0004	0	0.0004	0	0	0.0004	0.0029	0.0007	0.000304	47	154602	rs149172980	0.0004	0.0004	0.0004	0.0004	0.0107	0.0004	0.0003	0.0085	0.0077	0.0002	0.0004	0.0016	0	0	0.0107	0.0003	0.0007	0.0006	0.0003	0.0003	0.0004	0.0003	0.0012	0.0002	0.0002	0.0005	0.0004	4.812e-05	0	0.0006	0.0014	0	0	0	0.0004	0.0009	0.0012	0.113	0.43085	T	0.304	0.92824	T	0.001	0.12996	B	0.002	0.11217	B	0.564578	0.05444	N	1.249740	0.783441	0.34296	D	1.39	0.34934	L	-1.18	0.82806	T	-1.15	0.32590	N	0.271	0.34981	-0.6517	0.62640	T	0.344	0.70964	T	10	0.03453362	0.01665	T	0.035616	0.56462	D	0.280	0.59740	.	.	0.657540335597	0.65467	0.2011292496138533	0.20029	0.638599242714	0.57569	0.468920230865	0.34531	T	0.060963	0.31527	T	-0.226253	0.17148	T	-0.222224	0.52522	T	0.0302072114409639	0.02021	T	0.678032	0.28700	T	0.06633928	0.14263	0.08049462	0.18213	0.06633928	0.14262	0.08049462	0.18213	-4.709	0.34440	T	.	.	0.165	0.49186	B	.;.;.;.	.;.;.;.	2.833218	0.37356	20.5	0.99505252323292237	0.68264	0.68000	0.33638	D	AEFDGBI	0.053565	0.09663	N	-0.541885250640801	0.20739	1.095508	-0.380996507100726	0.25564	1.406622	0.999999958140857	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.36	3.53	0.39533	0.549000	0.23037	1.702000	0.28138	0.599000	0.40250	0.597000	0.27722	0.888000	0.27792	0.980000	0.58198	0.0:0.8134:0.0:0.1866	8.746	0.33750	842	0.36989	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009654	0.000000	0.009511	0.014706	0.000000	0.034483	0.006289	0.003817	0.07143	609.63	36	chr8	133191182	.	C	T	609.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.645;DP=223;ExcessHet=0;FS=2.182;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=0.882;SOR=0.657	GT:AD:DP:GQ:PL	0/1:32,28:60:99:620,0,766	6	0	1	0
chr8	133465975	133465975	C	T	exonic	ST3GAL1	.	nonsynonymous SNV	ST3GAL1:NM_003033:exon5:c.G422A:p.R141H,ST3GAL1:NM_173344:exon6:c.G422A:p.R141H	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.027800422639	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1414054049	1.026e-05	1.026e-05	6.806e-06	1.375e-05	0.0007	6.16e-06	4.89e-06	0.0002	0.0001	0	2.236e-05	0	0	0	0.0007	3.597e-06	3.311e-05	4.637e-05	1.97e-05	1.969e-05	2.57e-05	1.344e-05	6.537e-05	5.24e-06	2.45e-06	.	.	2.406e-05	0	6.537e-05	0	0	0	0	1.47e-05	0	0	0.022	0.51853	D	0.04	0.50809	D	0.068	0.23728	B	0.065	0.27321	B	0.000007	0.62929	D	0.090729	0.982483	0.39898	D	2.425	0.70256	M	1.28	0.35960	T	-2.75	0.62343	D	0.567	0.59138	-0.8952	0.48465	T	0.128	0.43503	T	10	0.583225	0.65966	D	0.028	0.50565	D	0.179	0.44899	0.756	0.88567	0.143184338766	0.13958	0.7880087230139021	0.78752	.	.	0.562031030655	0.47555	T	0.327831	0.69830	T	-0.190309	0.22213	T	-0.329614	0.41512	T	0.886609137058258	0.53703	D	0.746025	0.47476	T	0.17180286	0.37834	0.1033823	0.24805	0.17180286	0.37834	0.1033823	0.24804	-9.391	0.70179	D	.	.	0.089	0.30344	B	.;.;.;.;.;.	.;.;.;.;.;.	4.290501	0.65424	24.8	0.99779547517792577	0.86606	0.95621	0.65456	D	AEFDBI	0.621305	0.60604	D	0.0552855388800232	0.44385	2.713607	0.136654394565371	0.46440	2.88984	0.999999470339411	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.7	4.7	0.58776	2.711000	0.46845	7.506000	0.59554	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.193000	0.21690	0.0:0.8363:0.1637:0.0	12.854	0.57263	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1336.53	33	chr8	133465975	.	C	T	1336.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.455;DP=266;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.19;ReadPosRankSum=0.043;SOR=0.665	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1256	6	0	1	0
chr8	134602623	134602623	C	T	exonic	ZFAT	.	nonsynonymous SNV	ZFAT:NM_001174157:exon5:c.G910A:p.V304I,ZFAT:NM_001167583:exon6:c.G1060A:p.V354I,ZFAT:NM_001174158:exon6:c.G1060A:p.V354I,ZFAT:NM_020863:exon6:c.G1096A:p.V366I,ZFAT:NM_001029939:exon7:c.G1060A:p.V354I,ZFAT:NM_001289394:exon7:c.G1060A:p.V354I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.0189823997944	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1438595068	7.525e-06	8.209e-06	2.723e-06	1.238e-05	0.0002	4.04e-06	2.95e-06	3.09e-06	2.24e-06	0	0	0	0	0	0.0002	7.194e-06	1.656e-05	1.159e-05	6.569e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.061	0.46910	T	0.275	0.25362	T	1.0	0.90584	D	0.99	0.78936	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.44	0.70756	M	2.99	0.09822	T	-0.56	0.17417	N	0.496	0.53445	-1.1028	0.03768	T	0.053	0.22462	T	10	0.36673957	0.53160	T	0.018982	0.41214	T	0.152	0.39956	0.336	0.32491	0.391930172978	0.38808	0.26717185339367727	0.26630	0.799136364055	0.66162	0.751927554607	0.74731	T	0.011943	0.33059	T	-0.201466	0.20594	T	-0.430314	0.29901	T	0.857394754886627	0.50815	D	0.940006	0.77317	D	0.14438641	0.33145	0.11376272	0.27457	0.14438641	0.33144	0.11376272	0.27456	-7.139	0.55568	T	.	.	0.107	0.26607	B	.;.;.;.;.;.	.;.;.;.;.;.	4.766402	0.77107	26.6	0.99891649564628471	0.96589	0.95911	0.66686	D	AEFDGBCI	0.883201	0.81191	D	0.618710291423407	0.74359	6.119259	0.673645280751791	0.80381	7.286544	1.0	0.98316	0.638212	0.43195	0	0.623108	0.53289	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.74	5.74	0.90070	7.905000	0.86479	5.937000	0.51416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.0:1.0:0.0:0.0	18.922	0.92500	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	65.44	37	chr8	134602623	.	C	T	65.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.524;DP=478;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.524;SOR=1.179	GT:AD:DP:GQ:PL	0/0:131,0:131:99:0,120,1800	6	0	1	0
chr8	138152799	138152799	C	T	exonic	FAM135B	.	nonsynonymous SNV	FAM135B:NM_001362965:exon13:c.G1676A:p.S559N,FAM135B:NM_015912:exon13:c.G1676A:p.S559N	.	.	.	.	.	.	.	.	.	.	.	2306464	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.076	0.00706752229746	8.3e-05	.	8.281e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs372228047	4.788e-06	4.788e-06	1.361e-06	8.25e-06	2.519e-05	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	2.519e-05	0	0	5.396e-06	0	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.053	0.38863	T	0.282	0.21545	T	0.988	0.62325	D	0.815	0.58847	P	0.000655	0.42656	D	0.229384	0.847345	0.28546	N	1.9	0.50570	L	2.1	0.19990	T	-1.15	0.29525	N	0.165	0.17416	-1.0118	0.26353	T	0.113	0.40238	T	10	0.19002917	0.34628	T	0.007068	0.18731	T	0.076	0.22200	.	.	0.138757226776	0.13463	0.3425949828871486	0.34172	0.0756700949329	0.08493	0.393459439278	0.24156	T	0.053581	0.29484	T	-0.213519	0.18887	T	-0.544482	0.17859	T	0.610940277576447	0.36838	D	0.60344	0.22635	T	0.12558632	0.29437	0.12949654	0.31136	0.12558632	0.29437	0.12949654	0.31135	-4.259	0.27598	T	.	.	0.090	0.12512	B	.	.	2.900087	0.38433	20.7	0.99420205974627918	0.63742	0.89438	0.49903	D	AEFBI	0.304866	0.41245	N	0.590448359577619	0.72579	5.827827	0.584269450379789	0.73811	6.032093	0.0209559632981944	0.13307	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.45	5.45	0.79688	1.736000	0.37811	2.529000	0.33158	0.599000	0.40250	1.000000	0.71638	0.993000	0.31925	0.991000	0.66497	0.0:0.9215:0.0:0.0785	12.028	0.52678	959	0.08690	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	2137.04	63	chr8	138152799	.	C	T	2137.04	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.122;DP=378;ExcessHet=0.3476;FS=4.96;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=0.498;SOR=1.096	GT:AD:DP:GQ:PL	0/0:95,0:95:99:0,120,1800	5	0	2	0
chr8	140283925	140283925	G	A	exonic	TRAPPC9	.	nonsynonymous SNV	TRAPPC9:NM_001321646:exon13:c.C2051T:p.A684V,TRAPPC9:NM_001374684:exon13:c.C1934T:p.A645V,TRAPPC9:NM_001160372:exon14:c.C2078T:p.A693V,TRAPPC9:NM_001374683:exon14:c.C2078T:p.A693V,TRAPPC9:NM_031466:exon14:c.C2078T:p.A693V,TRAPPC9:NM_001374682:exon15:c.C2099T:p.A700V	Mental retardation, autosomal recessive 13, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.035441099136	.	.	8.239e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs767914895	8.209e-06	8.209e-06	1.089e-05	5.5e-06	0.0003	4.38e-06	3.46e-06	6.094e-05	2.522e-05	0	4.472e-05	0	0	0	0.0003	4.496e-06	3.312e-05	1.159e-05	1.315e-05	1.314e-05	1.286e-05	1.346e-05	6.553e-05	2.19e-06	8.2e-07	.	.	2.416e-05	0	6.553e-05	0	0	0	0	0	0	0	0.005	0.63226	D	0.008	0.67890	D	0.941	0.77913	P	0.641	0.64351	P	0.000099	0.51296	D	0.174005	0.99995	0.52396	D	1.935	0.51832	L	.	.	.	-2.85	0.60029	D	0.52	0.62188	-0.4315	0.71017	T	0.403	0.75352	T	9	0.6478286	0.69429	D	0.035441	0.56343	D	0.385	0.70194	0.453	0.51612	0.229924730088	0.22615	0.4938502140555826	0.49306	0.412596095774	0.41996	0.621737241745	0.55975	T	0.34042	0.70945	T	-0.0786194	0.39938	T	-0.174861	0.56997	T	0.929795265197754	0.59408	D	0.949405	0.80515	D	0.22636546	0.45316	0.23040335	0.48142	0.22636546	0.45316	0.23040335	0.48141	-10.123	0.75100	D	.	.	0.161	0.37839	B	.;.;.;.	.;.;.;.	4.223062	0.63889	24.6	0.99853474977490175	0.93279	0.98940	0.88919	D	AEFGI	0.776021	0.70926	D	0.535641675164282	0.69212	5.325126	0.472009542579976	0.66142	4.913704	0.999999999233663	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.55	5.55	0.83298	9.074000	0.93407	11.746000	0.95299	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.018000	0.11154	0.0:0.0:1.0:0.0	19.503	0.95094	988	0.01987	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2119.44	40	chr8	140283925	.	G	A	2119.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.905;DP=389;ExcessHet=0;FS=1.136;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-0.122;SOR=0.584	GT:AD:DP:GQ:PL	0/1:97,91:188:99:2130,0,2157	6	0	1	0
chr8	140890698	140890698	G	T	exonic	PTK2	.	nonsynonymous SNV	PTK2:NM_001352694:exon2:c.C40A:p.P14T,PTK2:NM_001352700:exon2:c.C40A:p.P14T,PTK2:NM_001352706:exon2:c.C40A:p.P14T,PTK2:NM_001352711:exon2:c.C40A:p.P14T,PTK2:NM_001352713:exon2:c.C40A:p.P14T,PTK2:NM_001352715:exon2:c.C40A:p.P14T,PTK2:NM_001352720:exon2:c.C40A:p.P14T,PTK2:NM_001352721:exon2:c.C40A:p.P14T,PTK2:NM_001352727:exon2:c.C40A:p.P14T,PTK2:NM_001352728:exon2:c.C40A:p.P14T,PTK2:NM_001352729:exon2:c.C40A:p.P14T,PTK2:NM_001352748:exon2:c.C40A:p.P14T,PTK2:NM_001199649:exon3:c.C40A:p.P14T,PTK2:NM_001352695:exon3:c.C40A:p.P14T,PTK2:NM_001352698:exon3:c.C79A:p.P27T,PTK2:NM_001352699:exon3:c.C40A:p.P14T,PTK2:NM_001352701:exon3:c.C40A:p.P14T,PTK2:NM_001352702:exon3:c.C40A:p.P14T,PTK2:NM_001352703:exon3:c.C40A:p.P14T,PTK2:NM_001352704:exon3:c.C40A:p.P14T,PTK2:NM_001352705:exon3:c.C79A:p.P27T,PTK2:NM_001352707:exon3:c.C40A:p.P14T,PTK2:NM_001352708:exon3:c.C40A:p.P14T,PTK2:NM_001352709:exon3:c.C40A:p.P14T,PTK2:NM_001352710:exon3:c.C40A:p.P14T,PTK2:NM_001352714:exon3:c.C40A:p.P14T,PTK2:NM_001352716:exon3:c.C40A:p.P14T,PTK2:NM_001352717:exon3:c.C40A:p.P14T,PTK2:NM_001352718:exon3:c.C40A:p.P14T,PTK2:NM_001352719:exon3:c.C40A:p.P14T,PTK2:NM_001352722:exon3:c.C40A:p.P14T,PTK2:NM_001352723:exon3:c.C40A:p.P14T,PTK2:NM_001352724:exon3:c.C40A:p.P14T,PTK2:NM_001352726:exon3:c.C40A:p.P14T,PTK2:NM_005607:exon3:c.C106A:p.P36T,PTK2:NM_153831:exon3:c.C40A:p.P14T,PTK2:NM_001352712:exon4:c.C40A:p.P14T,PTK2:NM_001352725:exon4:c.C40A:p.P14T,PTK2:NM_001352697:exon5:c.C172A:p.P58T	.	426	1095	1	0	0	1	0.000456413	.	.	.	2399205	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.155	0.0225321062591	.	.	2.473e-05	0	0.0003	0	0	0	0	0	1.94e-05	3	154602	rs191376716	1.573e-05	1.573e-05	1.633e-05	1.513e-05	0.0003	1.048e-05	8.75e-06	0.0002	0.0002	2.987e-05	0.0003	3.827e-05	0	0	0	1.799e-06	3.312e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.59928	T	0.528	0.47581	T	0.0	0.02946	B	0.001	0.04355	B	0.000193	0.48115	D	0.217942	0.978802	0.25945	N	-0.345	0.03330	N	-1.01	0.76168	T	-0.9	0.87835	N	0.314	0.35727	-0.5030	0.68541	T	0.345	0.71027	T	10	0.10197449	0.18665	T	0.022532	0.45427	T	0.155	0.40530	0.195	0.10705	0.524456804389	0.52091	0.6239079535243011	0.62323	0.531955723299	0.50672	0.476436465979	0.35566	T	0.395249	0.75418	T	-0.258305	0.13099	T	-0.311254	0.43525	T	0.112177521077468	0.13648	T	0.933407	0.75281	D	0.10815785	0.25573	0.07696602	0.17100	0.10815785	0.25572	0.07696602	0.17100	-3.997	0.23923	T	.	.	0.065	0.07793	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.638477	0.34328	19.60	0.91072566059920224	0.20325	0.86645	0.45969	D	AEFGBI	0.382141	0.46414	N	0.104711119907492	0.46683	2.904894	0.210492411079388	0.50429	3.235017	0.999999745044847	0.74766	0.736574	0.97449	0	0.659464	0.62310	0	0.709663	0.75317	0	0.677812	0.66336	0	.	.	5.68	4.8	0.61157	3.987000	0.56655	6.354000	0.55496	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.1284:0.8716:0.0	16.829	0.85805	976	0.04745	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	859.45	33	chr8	140890698	.	G	T	859.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.619;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-1.919;SOR=0.687	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1141	6	0	1	0
chr8	141356978	141356978	C	T	exonic	GPR20	.	nonsynonymous SNV	GPR20:NM_005293:exon2:c.G946A:p.G316R	.	427	1092	3	0	0	3	0.00137174	.	.	.	3255386	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.008	0.00193519798637	7.7e-05	.	0.0003	0.0004	0.0020	0	0	7.636e-05	0	0	0.000207	32	154602	rs201855453	0.0001	0.0001	0.0001	9.082e-05	0.0012	9.812e-05	9.228e-05	0.0010	0.0009	0.0004	0.0012	7.655e-05	5.039e-05	0	0.0005	6.655e-05	0.0002	2.319e-05	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0001	0.0007	0.0005	0.0003	0	0.0010	0.0003	0	9.409e-05	0	4.409e-05	0.0014	0	0.55	0.06585	T	0.47	0.12246	T	0.216	0.30161	B	0.011	0.15521	B	0.021650	0.26791	U	0.246937	1	0.08975	N	1.15	0.29295	L	1.31	0.35405	T	0.22	0.04694	N	0.116	0.10483	-1.0411	0.16981	T	0.040	0.17319	T	10	0.009430975	0.00213	T	0.001935	0.03430	T	0.008	0.00669	0.244	0.17830	0.295623431141	0.29171	0.17341513915368675	0.17261	0.336806597811	0.35678	0.297206282616	0.09985	T	0.003984	0.03393	T	-0.56666	0.00232	T	-0.627277	0.10622	T	0.00335081554435093	0.00035	T	0.441056	0.12198	T	0.039318297	0.05404	0.061582364	0.11916	0.039318297	0.05404	0.061582364	0.11916	-2.731	0.07567	T	.	.	0.065	0.01810	B	.	.	0.892830	0.12662	9.188	0.79368076225925144	0.12710	0.19961	0.20862	N	AEFGBHCI	0.239822	0.36172	N	-0.956605132912595	0.09544	0.4522118	-0.988153632675552	0.10050	0.5038084	0.975351355934984	0.29626	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.12	2.25	0.27340	1.164000	0.31420	1.289000	0.25400	0.597000	0.34315	0.001000	0.13787	0.010000	0.20010	0.003000	0.05239	0.0:0.5699:0.2021:0.228	3.940	0.08822	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	1839.44	38	chr8	141356978	.	C	T	1839.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.842;DP=280;ExcessHet=0;FS=2.707;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.78;ReadPosRankSum=1.83;SOR=0.843	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1037:.	6	0	1	0
chr8	142785370	142785370	C	T	exonic	LY6D	.	nonsynonymous SNV	LY6D:NM_003695:exon3:c.G238A:p.G80S	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.318170263569	7.7e-05	0.000399361	0.0003	0	0.0003	0	0	0.0002	0	0.0015	0.0002652	41	154602	rs368223354	0.0001	0.0001	9.532e-05	0.0002	0.0013	0.0001	0.0001	0.0011	0.0011	0	0.0003	0	0	0	0.0003	5.935e-05	4.968e-05	0.0013	9.203e-05	9.189e-05	5.144e-05	0.0001	0.0015	5.53e-05	4.367e-05	0.0007	0.0005	0	0	6.538e-05	0	0	0	0	8.827e-05	0	0.0015	0.097	0.30943	T	0.084	0.41239	T	1.0	0.90584	D	0.999	0.92359	D	0.011933	0.29350	N	0.159960	0.999978	0.18612	N	1.87	0.49600	L	-0.38	0.69027	T	-2.0	0.46146	N	0.292	0.33030	-0.6478	0.62810	T	0.404	0.75409	T	10	0.028319359	0.00966	T	0.31817	0.91393	D	0.327	0.64926	.	.	0.719817184352	0.71735	0.6307132820222753	0.63005	0.623859276739	0.56610	0.320709913969	0.13529	T	0.015985	0.13301	T	-0.357717	0.04260	T	-0.327146	0.41787	T	0.0799042693116996	0.09974	T	0.625137	0.24143	T	0.05602841	0.10968	0.0838368	0.19242	0.05602841	0.10968	0.0838368	0.19242	-3.096	0.11250	T	.	.	0.396	0.59370	A	.	.	2.064452	0.26254	17.05	0.99754782373751827	0.84537	0.05403	0.11271	N	AEFGBHCI	0.092845	0.18792	N	-0.0577767215301188	0.39255	2.312013	-0.294919631078489	0.28266	1.574581	0.999997461984233	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.14	3.14	0.35196	-0.106000	0.10860	1.566000	0.27387	-0.193000	0.09282	0.001000	0.13787	0.798000	0.26924	0.013000	0.09966	0.0:1.0:0.0:0.0	10.030	0.41265	.	.	Ly-6 antigen/uPA receptor-like|Ly-6 antigen/uPA receptor-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	766.53	34	chr8	142785370	.	C	T	766.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.516;DP=240;ExcessHet=0;FS=1.012;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=-0.305;SOR=0.701	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,100,1256	6	0	1	0
chr8	143082526	143082526	A	T	exonic	LY6L	.	nonsynonymous SNV	LY6L:NM_001368160:exon3:c.A292T:p.I98F	.	406	1089	27	0	0	27	0.0122449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0023	0.0103	0	0	.	0.0015	0.0085	0.0024	0.0004075	63	154602	rs145802655	0.0013	0.0012	0.0012	0.0014	0.0294	0.0012	0.0012	0.0257	0.0243	0.0006	0.0014	0.0002	2.798e-05	0.0002	0.0294	0.0011	0.0025	0.0022	0.0012	0.0012	0.0011	0.0012	0.0023	0.0010	0.0010	0.0015	0.0014	0.0002	0	0.0008	0	0.0002	9.407e-05	0.0374	0.0017	0.0062	0.0023	0.025	0.47320	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.53	0.30401	T	-1.76	0.41618	N	0.316	0.35620	.	.	.	.	.	.	.	0.008021623	0.00182	T	.	.	.	.	.	.	.	0.292423486923	0.28857	0.5642543798706255	0.56352	.	.	.	.	.	0.031623	0.22125	T	-0.549655	0.00293	T	-0.567555	0.15675	T	.	.	.	.	.	.	0.09920656	0.23409	0.093041025	0.21958	0.09920656	0.23409	0.093041025	0.21957	-3.049	0.10719	T	.	.	0.698	0.72885	P	.	.	1.647912	0.21029	15.02	0.83701868391607703	0.14872	0.01036	0.03877	N	AEFDBI	0.020495	0.00816	N	.	.	.	.	.	.	1.50220521436772E-4	0.05573	0.582742	0.33608	0	0.573888	0.26702	0	0.61531	0.40942	0	0.562822	0.20929	0	.	.	2.65	1.49	0.21966	-0.171000	0.09872	.	.	0.751000	0.87719	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.862:0.0:0.138:0.0	6.020	0.18850	988	0.01987	Ly-6 antigen/uPA receptor-like|Ly-6 antigen/uPA receptor-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	107.44	39	chr8	143082526	.	A	T	107.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.366;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=0.366;SOR=1.022	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,100,1174	6	0	1	0
chr8	143274740	143274740	C	T	exonic	GLI4	.	nonsynonymous SNV	GLI4:NM_138465:exon3:c.C161T:p.P54L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00469739340585	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1397023827	2.118e-06	4.788e-06	1.397e-06	2.854e-06	1.233e-05	5.6e-07	1.6e-07	.	.	0	0	0	0	0	0	0	3.417e-05	1.233e-05	1.314e-05	1.313e-05	2.57e-05	0	2.414e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	0	0.0005	0	0.013	0.53900	D	0.017	0.92824	D	0.006	0.13644	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.145	0.08828	N	3.38	0.05778	T	-5.89	0.88767	D	0.072	0.17002	-1.0207	0.23486	T	0.048	0.20553	T	9	0.070071906	0.10143	T	0.004697	0.11691	T	0.027	0.05988	0.291	0.25241	0.273938319068	0.27005	0.0737348557524076	0.07310	0.446228978269	0.44498	0.369086682796	0.20701	T	0.001118	0.00627	T	-0.320744	0.06836	T	-0.698503	0.05907	T	0.0489746907178913	0.05319	T	0.561144	0.19645	T	0.027574362	0.01969	0.0325031	0.01996	0.027574362	0.01969	0.0325031	0.01995	-3.971	0.23368	T	.	.	0.191	0.46378	B	.;.;.;.;.;.	.;.;.;.;.;.	1.101915	0.14861	11.39	0.9524600905031223	0.26495	0.15742	0.19060	N	AEFDGBCI	0.098356	0.19822	N	-0.867284705345634	0.11627	0.5621382	-0.985636128710239	0.10108	0.5069896	0.999996032581116	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.493711	0.08198	1	0.63947	0.58350	0	.	.	3.8	0.711	0.17319	-0.071000	0.11465	.	.	-0.202000	0.08738	0.000000	0.06391	0.049000	0.21787	0.002000	0.04165	0.1646:0.5777:0.16:0.0977	3.913	0.08712	982	0.03397	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1191.45	34	chr8	143274740	.	C	T	1191.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.65;DP=271;ExcessHet=0;FS=0.797;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=0.784;SOR=0.819	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1146	6	0	1	0
chr8	143331329	143331329	C	T	exonic	TOP1MT	.	nonsynonymous SNV	TOP1MT:NM_052963:exon2:c.G133A:p.E45K	.	412	1101	9	0	0	9	0.00407056	.	.	.	1647019	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.144	0.0204397279514	0.0007	0.00139776	0.0018	0.0005	0.0003	0.0001	0.0012	0.0018	0.0011	0.0048	0.0002911	45	154602	rs150542670	0.0017	0.0017	0.0016	0.0018	0.0044	0.0016	0.0016	0.0040	0.0039	0.0002	0.0003	0	0	0.0006	0.0007	0.0017	0.0019	0.0044	0.0011	0.0011	0.0011	0.0011	0.0058	0.0009	0.0009	0.0041	0.0036	0.0004	0	0.0003	0	0	0.0006	0	0.0015	0.0005	0.0058	0.143	0.36709	T	0.224	0.60337	T	0.004	0.12183	B	0.002	0.06944	B	0.000470	0.44119	U	0.000000	0.999902	0.81001	D	1.06	0.26948	L	1.44	0.32722	T	-2.59	0.63901	D	0.26	0.29429	-1.0816	0.07041	T	0.043	0.18326	T	10	0.0051133335	0.00111	T	0.02044	0.43035	T	0.144	0.38394	.	.	0.36893422563	0.36505	0.19179992460634052	0.19097	0.209460660438	0.23414	0.468781292439	0.34512	T	0.219167	0.58209	T	-0.439756	0.01297	T	-0.404463	0.32865	T	0.0363037527080175	0.03033	T	0.909809	0.68064	D	0.1576167	0.35506	0.1333844	0.31985	0.1576167	0.35505	0.1333844	0.31984	-3.18	0.12238	T	.	.	0.081	0.52202	B	.;.;.;.	.;.;.;.	1.207292	0.16000	12.25	0.99170694186675012	0.54383	0.59679	0.30982	D	AEFDBI	0.234409	0.35717	N	-0.736509377162668	0.15002	0.7522556	-0.737131237709863	0.16039	0.8465942	0.999930376336172	0.46732	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.34	1.02	0.19102	2.336000	0.43597	.	.	0.536000	0.24961	1.000000	0.71638	0.000000	0.08366	0.306000	0.24642	0.0:0.7061:0.0:0.2939	6.657	0.22185	976	0.04745	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	448.63	29	chr8	143331329	.	C	T	448.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.833;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.6;ReadPosRankSum=1.12;SOR=0.816	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1255	6	0	1	0
chr8	143379503	143379503	G	A	exonic	RHPN1	.	nonsynonymous SNV	RHPN1:NM_052924:exon8:c.G940A:p.A314T	.	418	1077	23	4	0	31	0.0141876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.101666304702	0.0019	0.00179712	0.0048	0.0006	0.0033	0	0	0.0044	0.0066	0.0073	0.0018176	281	154602	rs199609984	0.0031	0.0031	0.0031	0.0032	0.0140	0.0030	0.0030	0.0113	0.0103	0.0009	0.0020	0.0001	2.782e-05	8.308e-05	0.0140	0.0033	0.0033	0.0048	0.0022	0.0022	0.0022	0.0022	0.0056	0.0020	0.0019	0.0039	0.0034	0.0008	0.0033	0.0039	0.0003	0	0	0.0204	0.0029	0.0028	0.0056	0.044	0.41096	D	0.113	0.36901	T	.	.	.	.	.	.	0.000004	0.62929	N	0.061048	0.999449	0.47080	D	2.93	0.84523	M	2.07	0.20387	T	-3.34	0.66325	D	0.364	0.40565	-1.0938	0.04929	T	0.062	0.25672	T	10	0.012050003	0.00261	T	0.101666	0.77468	D	0.127	0.34888	.	.	0.235664433957	0.23186	0.39779810247814446	0.39694	0.0755392110658	0.08479	0.558147668839	0.47006	T	0.159767	0.50334	T	-0.484472	0.00697	T	-0.468283	0.25702	T	0.045643406678797	0.04719	T	0.819918	0.47811	T	0.30405015	0.53266	0.31682783	0.57661	0.30405015	0.53266	0.31682783	0.57661	-7.704	0.59035	D	.	.	0.115	0.23041	B	.	.	3.532197	0.49562	22.8	0.99507392132967576	0.68381	0.32998	0.24722	N	AEFDGBCI	0.084361	0.17098	N	0.109763883042408	0.46917	2.924881	0.0379858628087101	0.41495	2.49388	0.999998653722359	0.74766	0.65861	0.49226	0	0.688826	0.66785	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.28	3.38	0.37806	4.331000	0.59057	.	.	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.535000	0.29822	0.0868:0.0:0.7625:0.1507	8.509	0.32367	976	0.04745	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016163	0.000000	0.015193	0.020958	0.000000	0.063636	0.012739	0.011811	0.07143	1084.63	19	chr8	143379503	.	G	A	1084.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.69;DP=213;ExcessHet=0;FS=1.145;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.49;ReadPosRankSum=0.618;SOR=0.498	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1161	6	0	1	0
chr8	143381304	143381304	G	A	exonic	RHPN1	.	nonsynonymous SNV	RHPN1:NM_052924:exon12:c.G1448A:p.R483H	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0205631390016	.	.	6.614e-05	0	0	0	0	0	0	0.0005	4.53e-05	7	154602	rs767448001	3.766e-05	3.831e-05	2.043e-05	5.506e-05	0.0005	2.962e-05	2.658e-05	0.0004	0.0003	5.975e-05	0	0	0	0	0	6.297e-06	4.971e-05	0.0005	2.626e-05	2.624e-05	0	5.369e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.981e-05	2.404e-05	0	0	0	0	0	0	0	0	0.0006	0.027	0.46513	D	0.056	0.46632	T	.	.	.	.	.	.	0.085689	0.20627	N	0.531595	0.999999	0.08975	N	.	.	.	2.27	0.17431	T	-0.64	0.18670	N	0.091	0.06990	-1.0479	0.14988	T	0.020	0.08500	T	10	0.06549844	0.08844	T	0.020563	0.43179	T	0.069	0.20116	0.355	0.35571	0.29385284311	0.29004	0.2467465449094228	0.24588	0.0760879406702	0.08543	0.225078761578	0.01624	T	.	.	.	-0.530851	0.00380	T	-0.657576	0.08430	T	0.0493918197708132	0.05393	T	0.430157	0.11673	T	0.04791953	0.08271	0.03828846	0.03666	0.04791953	0.08271	0.03828846	0.03665	-5.265	0.39596	T	.	.	0.066	0.02200	B	.	.	2.047839	0.26035	16.97	0.98631096101105897	0.43920	0.55558	0.29894	D	AEFGBI	0.115655	0.22730	N	-0.250071647759303	0.31101	1.740557	-0.210206408013356	0.31168	1.761414	0.999968415415006	0.48965	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.83	2.98	0.33575	1.464000	0.34898	.	.	0.672000	0.70159	0.968000	0.34134	0.578000	0.25607	0.306000	0.24642	0.1463:0.0:0.6932:0.1605	6.030	0.18900	976	0.04745	BRO1 domain|BRO1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1893.44	33	chr8	143381304	.	G	A	1893.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.609;DP=351;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=0.063;SOR=0.741	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1389	6	0	1	0
chr8	143441057	143441057	C	T	exonic	ZC3H3	.	nonsynonymous SNV	ZC3H3:NM_015117:exon10:c.G2371A:p.A791T	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.0240111666821	.	.	0.0001	0	0.0003	0	0	0.0002	0	0	3.23e-05	5	154602	rs761410773	1.207e-05	3.215e-05	1.042e-05	1.377e-05	0.0002	7.15e-06	5.78e-06	4.295e-05	2.261e-05	0	0.0002	0	0	0	0	7.568e-06	1.829e-05	5.955e-05	8.541e-05	8.536e-05	5.138e-05	0.0001	0.0007	4.956e-05	3.962e-05	0.0004	0.0003	2.412e-05	0	0.0007	0	0	0	0	1.47e-05	0	0	0.076	0.34269	T	0.333	0.18395	T	0.001	0.07471	B	0.003	0.08700	B	0.989449	0.07892	N	1.005240	1	0.08975	N	1.2	0.30300	L	0.81	0.48460	T	-0.45	0.14782	N	0.193	0.21188	-1.0145	0.25497	T	0.068	0.27845	T	10	0.024084985	0.00650	T	0.024011	0.46991	T	0.038	0.09825	0.128	0.03331	0.043077524339	0.03247	0.3590260854515273	0.35816	.	.	0.474439650774	0.35292	T	0.00648	0.05912	T	-0.320777	0.06834	T	-0.698551	0.05905	T	0.0386111212681781	0.03441	T	0.616838	0.23625	T	0.04214565	0.06338	0.05176253	0.08396	0.04214565	0.06338	0.05176253	0.08396	-5.94	0.45775	T	.	.	0.064	0.01762	B	.	.	0.692177	0.10608	7.312	0.93224437275027361	0.22903	0.05847	0.11790	N	AEFBI	0.078006	0.15727	N	-1.45284975965938	0.02194	0.09662523	-1.52980806950669	0.02118	0.09692953	0.992817354199205	0.32978	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.683762	0.67416	0	.	.	4.76	-5.72	0.02211	-1.132000	0.03346	.	.	-0.850000	0.02721	0.000000	0.06391	0.000000	0.08366	0.085000	0.17524	0.1931:0.3913:0.095:0.3205	1.760	0.02810	976	0.04745	Zinc finger, CCCH-type|Zinc finger, CCCH-type|Zinc finger, CCCH-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	539.27	59	chr8	143441057	.	C	T	539.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.628;DP=240;ExcessHet=0;FS=0.985;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.14;ReadPosRankSum=1.68;SOR=0.555	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1085	5	0	1	1
chr8	143562047	143562047	G	-	exonic	GSDMD	.	frameshift deletion	GSDMD:NM_024736:exon8:c.912delG:p.D305Tfs*74,GSDMD:NM_001166237:exon11:c.912delG:p.D305Tfs*74	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	46.4	32	chr8	143562046	.	TG	T	46.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.73;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1462	6	0	1	0
chr8	143721285	143721285	G	A	exonic	MAPK15	.	nonsynonymous SNV	MAPK15:NM_139021:exon11:c.G1078A:p.G360S	.	428	1089	5	0	0	5	0.00229043	.	.	.	3285084	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.0325734533514	.	0.000199681	4.179e-05	0.0001	8.66e-05	0	0	4.544e-05	0	0	3.88e-05	6	154602	rs200752759	3.079e-05	3.078e-05	2.996e-05	3.164e-05	0.0033	2.348e-05	2.095e-05	0.0022	0.0018	5.974e-05	4.474e-05	0	0	0	0.0033	1.169e-05	6.625e-05	5.797e-05	4.6e-05	4.593e-05	3.857e-05	5.378e-05	6.539e-05	2.11e-05	1.527e-05	1.172e-05	6.25e-06	4.815e-05	0	6.539e-05	0	0	0	0.0034	4.414e-05	0	0	0.211	0.19569	T	0.423	0.13993	T	0.005	0.12996	B	0.005	0.11217	B	0.109187	0.02622	U	1.975110	1	0.08975	N	0.97	0.24054	L	-0.73	0.73100	T	-0.39	0.13611	N	0.115	0.10340	-1.0252	0.22017	T	0.191	0.54272	T	10	0.03722644	0.02065	T	0.032573	0.54365	D	0.041	0.10877	.	.	0.553388312184	0.54996	0.3288651789010235	0.32799	0.0211720181256	0.02094	0.256552159786	0.04488	T	0.021644	0.16816	T	-0.384345	0.02924	T	-0.607715	0.12172	T	0.0293381012311253	0.01889	T	.	.	.	0.026203772	0.01649	0.03518526	0.02724	0.026203772	0.01648	0.03518526	0.02724	-3.579	0.17553	T	.	.	0.079	0.07318	B	.	.	-0.288630	0.02667	0.342	0.61918067560588863	0.06830	0.02920	0.07728	N	AEFDGBHCI	0.040478	0.06025	N	-1.34850459792069	0.03141	0.1398081	-1.41830107420301	0.03069	0.1424491	0.999997951817614	0.74766	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	2.16	0.275	0.14911	-0.293000	0.08357	.	.	-2.014000	0.00440	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1652:0.2665:0.5683:0.0	3.505	0.07248	889	0.27310	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.017241	0.000000	0.000000	0.07143	807.46	30	chr8	143721285	.	G	A	807.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.229;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.83;ReadPosRankSum=0.048;SOR=0.61	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1108	6	0	1	0
chr8	143727792	143727792	C	A	exonic	FAM83H	.	nonsynonymous SNV	FAM83H:NM_198488:exon5:c.G1669T:p.G557C	Amelogenesis imperfecta, type III, Autosomal dominant	9	1502	10	1	0	12	0.00397878	.	.	.	790784	not_provided|Amelogenesis_imperfecta,_hypocalcification_type|FAM83H-related_disorder	MedGen:C3661900|MONDO:MONDO:0968955,MedGen:C0399376,Orphanet:100032,Orphanet:88661|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.073	.	.	0.000199681	0.0057	0	0	0	.	0.0357	0	0.0022	0.0004528	70	154602	rs312262803	0.0027	0.0024	0.0026	0.0027	0.0044	0.0026	0.0026	0.0028	0.0028	0.0005	0.0021	0.0034	0	0.0017	0.0044	0.0029	0.0025	0.0016	0.0018	0.0018	0.0017	0.0018	0.0027	0.0016	0.0015	0.0024	0.0023	0.0005	0	0.0016	0.0026	0	0.0014	0.0068	0.0027	0.0028	0.0010	0.004	0.65419	D	0.033	0.53072	D	0.985	0.61118	D	0.628	0.51677	P	0.003643	0.00976	U	490.647000	0.999478	0.21134	N	2.24	0.63355	M	2.42	0.15376	T	-2.33	0.51646	N	0.385	0.42639	-1.0119	0.26322	T	0.054	0.22808	T	10	0.0055520833	0.00123	T	.	.	.	0.073	0.21317	.	.	0.043077524339	0.03247	0.2261153594599419	0.22526	1.00671276343	0.74603	0.878267168999	0.93726	D	0.097161	0.39971	T	-0.487841	0.00668	T	-0.467976	0.25735	T	0.0575124000905681	0.06771	T	.	.	.	0.17884576	0.38926	0.091350354	0.21473	0.17884576	0.38926	0.091350354	0.21473	-6.66	0.51508	T	.	.	0.175	0.38227	B	.	.	2.426817	0.31214	18.67	0.99383089065726871	0.61979	0.28214	0.23492	N	AEFDBCI	0.158577	0.28425	N	-0.229335003188708	0.31936	1.795754	-0.361278780663449	0.26162	1.443272	0.998224208389481	0.36603	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.32	2.03	0.25714	1.882000	0.39283	.	.	0.489000	0.22316	0.930000	0.32276	0.737000	0.26456	0.007000	0.07825	0.0:0.7073:0.0:0.2927	8.641	0.33140	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004373	0.000000	0.000000	0.008000	0.055556	0.013889	0.008197	0.000000	0.08333	178.27	18	chr8	143727792	.	C	A	178.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.165;DP=115;ExcessHet=0;FS=2.128;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=-0.833;SOR=1.402	GT:AD:DP:GQ:PL	0/1:13,7:20:99:188,0,351	5	0	1	1
chr8	143813513	143813513	C	A	exonic	SCRIB	.	nonsynonymous SNV	SCRIB:NM_015356:exon5:c.G460T:p.V154L,SCRIB:NM_182706:exon5:c.G460T:p.V154L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.0162858394986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1337358432	1.369e-06	1.368e-06	0	2.752e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	6.565e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.307	0.16628	T	0.338	0.22154	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.98	0.09356	T	-1.53	0.37178	N	0.557	0.58202	-1.0311	0.20099	T	0.031	0.13242	T	9	0.31861788	0.49258	T	0.016286	0.37474	T	0.079	0.23065	0.322	0.30226	0.406955170226	0.40314	0.49410543263729106	0.49331	.	.	0.862726032734	0.91513	D	0.102575	0.41190	T	-0.153869	0.27709	T	-0.458799	0.26731	T	0.441829532384872	0.30497	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.695	0.73650	P	.;.;.	.;.;.	3.752625	0.53796	23.4	0.99688748083047984	0.79775	0.96638	0.70151	D	AEFDBHCI	0.713469	0.66626	D	0.0958919244010662	0.46271	2.870046	0.212488610194415	0.50541	3.24496	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.55	4.55	0.55429	2.560000	0.45559	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	16.642	0.84985	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1320.83	34	chr8	143813513	.	C	A	1320.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.246;DP=279;ExcessHet=0;FS=1.64;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=-1.76;SOR=0.585	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr8	143923487	143923487	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon31:c.C6400T:p.R2134W,PLEC:NM_201379:exon31:c.C6376T:p.R2126W,PLEC:NM_201380:exon31:c.C6853T:p.R2285W,PLEC:NM_201381:exon31:c.C6346T:p.R2116W,PLEC:NM_201382:exon31:c.C6442T:p.R2148W,PLEC:NM_201383:exon31:c.C6454T:p.R2152W,PLEC:NM_201384:exon31:c.C6442T:p.R2148W,PLEC:NM_000445:exon32:c.C6523T:p.R2175W	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1028339	not_provided|Inborn_genetic_diseases|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_with_nail_dystrophy	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.281	0.673996709187	.	0.000798722	7.555e-05	0.0003	9.193e-05	0.0004	0	1.724e-05	0	6.372e-05	8.41e-05	13	154602	rs559437791	2.208e-05	2.263e-05	1.649e-05	2.773e-05	0.0001	1.598e-05	1.368e-05	6.276e-05	4.779e-05	5.983e-05	0	0	5.046e-05	0	0	1.445e-05	3.328e-05	0.0001	5.257e-05	5.252e-05	5.142e-05	5.377e-05	0.0002	2.557e-05	1.83e-05	4.731e-05	3.048e-05	0.0001	0	0	0	0.0002	0	0	1.471e-05	0	0.0002	0.0	0.91255	D	0.005	0.74150	D	0.999	0.77913	D	0.736	0.55529	P	0.000854	0.41440	U	0.087690	0.999222	0.21485	N	0.345	0.11182	N	-1.24	0.79475	T	-2.12	0.48184	N	0.387	0.47208	-0.3656	0.73095	T	0.464	0.79240	T	10	0.10401499	0.19153	T	0.673997	0.97286	D	0.281	0.59861	.	.	0.646763583254	0.64383	0.5540090331926825	0.55327	.	.	0.643137276173	0.59010	T	0.383603	0.74542	T	-0.218818	0.18155	T	-0.230127	0.51758	T	0.0850733712708593	0.10623	T	0.988876	0.96221	D	0.14517713	0.33290	0.105968796	0.25483	0.14517713	0.33290	0.105968796	0.25483	-8.819	0.67555	D	0.2244411931451709	0.30311	0.161	0.36154	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.582115	0.33479	19.35	0.79000676801044956	0.12546	0.36870	0.25632	N	AEFDBCI	0.457084	0.50868	N	-0.256214963524645	0.30857	1.724504	-0.425982429300984	0.24239	1.326173	0.999983206625817	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.98	1.58	0.22557	0.928000	0.28431	.	.	0.659000	0.54702	0.001000	0.13787	1.000000	0.68203	0.141000	0.19983	0.0:0.0:0.4298:0.5702	13.118	0.58726	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1661.63	43	chr8	143923487	.	G	A	1661.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.309;DP=387;ExcessHet=0;FS=1.667;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.31;ReadPosRankSum=-0.522;SOR=0.513	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:93,0:93:99:.:.:0,120,1800:.	6	0	1	0
chr8	143932918	143932918	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon14:c.C1570T:p.R524C,PLEC:NM_201379:exon14:c.C1546T:p.R516C,PLEC:NM_201380:exon14:c.C2023T:p.R675C,PLEC:NM_201381:exon14:c.C1516T:p.R506C,PLEC:NM_201382:exon14:c.C1612T:p.R538C,PLEC:NM_201383:exon14:c.C1624T:p.R542C,PLEC:NM_201384:exon14:c.C1612T:p.R538C,PLEC:NM_000445:exon15:c.C1693T:p.R565C	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	992607	Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|not_provided	MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.656	0.705249474178	.	.	1.751e-05	0	0	0	0	3.173e-05	0	0	1.29e-05	2	154602	rs782678779	2.26e-05	2.257e-05	2.453e-05	2.065e-05	2.698e-05	1.612e-05	1.418e-05	1.914e-05	1.661e-05	0	0	0	2.52e-05	0	0	2.698e-05	0	2.319e-05	6.571e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.006	0.79402	D	1.0	0.90584	D	0.833	0.59784	P	0.000017	0.62929	U	0.000000	1	0.81001	D	2.77	0.80896	M	-3.17	0.93054	D	-5.02	0.87457	D	0.766	0.76388	0.791	0.94299	D	0.832	0.94366	D	10	0.7284888	0.74136	D	0.705249	0.97594	D	0.656	0.87085	0.463	0.53242	0.759304157599	0.75711	0.5267576845746209	0.52599	.	.	0.691615581512	0.65938	T	0.553189	0.84908	D	0.219416	0.75720	D	0.178029	0.81881	D	0.946784257888794	0.62543	D	0.993967	0.98010	D	0.35089588	0.57137	0.12939206	0.31112	0.35089588	0.57137	0.12939206	0.31111	-10.698	0.78962	D	0.6715747089641879	0.74660	0.235	0.51227	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.485987	0.70031	25.5	0.97880674439159032	0.36601	0.94035	0.59916	D	AEFGBCI	0.768935	0.70434	D	0.408810759487375	0.61904	4.398193	0.318834085021565	0.56646	3.82834	0.999999998499149	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.12	4.24	0.49486	5.449000	0.66364	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.658000	0.32913	0.0835:0.0:0.9165:0.0	12.387	0.54669	970	0.06235	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	592.46	52	chr8	143932918	.	G	A	592.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.01;DP=491;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=0.528;SOR=0.693	GT:AD:DP:GQ:PL	0/0:100,0:100:99:0,120,1800	6	0	1	0
chr8	143984803	143984804	AG	-	exonic	PARP10	.	frameshift deletion	PARP10:NM_001317895:exon4:c.1234_1235del:p.L412Gfs*63,PARP10:NM_032789:exon5:c.1198_1199del:p.L400Gfs*63	.	383	1138	1	0	0	1	0.000439174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.252e-06	0	0	0	0	0	0.0011	0	.	.	.	.	6.162e-06	6.157e-06	1.363e-06	1.101e-05	9.277e-05	2.9e-06	2.1e-06	4.579e-05	3.273e-05	0	0	0	0	0	0	0	1.658e-05	9.277e-05	6.572e-06	6.562e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1620.79	34	chr8	143984802	.	CAG	C	1620.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.538;DP=275;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.05;ReadPosRankSum=-0.189;SOR=0.762	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1052:.	6	0	1	0
chr8	143984804	143984804	-	CTCCT	exonic	PARP10	.	frameshift insertion	PARP10:NM_001317895:exon4:c.1233_1234insAGGAG:p.L412Rfs*33,PARP10:NM_032789:exon5:c.1197_1198insAGGAG:p.L400Rfs*33	.	386	1135	1	0	0	1	0.000440335	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.252e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs782662526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-06	6.563e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1620.79	34	chr8	143984804	.	G	GCTCCT	1620.79	.	AC=1;AF=0.071;AN=14;DP=273;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.05;ReadPosRankSum=0.165;SOR=0.762	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1052:.	6	0	1	0
chr8	143991731	143991731	C	T	exonic	GRINA	.	nonsynonymous SNV	GRINA:NM_000837:exon3:c.C419T:p.S140F,GRINA:NM_001009184:exon3:c.C419T:p.S140F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.0288842405296	.	.	8.253e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs782525102	2.053e-06	2.736e-06	1.362e-06	2.751e-06	2.519e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	2.519e-05	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.61437	D	0.1	0.38742	T	0.99	0.63424	D	0.804	0.58350	P	0.027756	0.25708	N	0.392618	0.994878	0.42452	D	2.33	0.66821	M	1.81	0.25509	T	-2.41	0.52938	N	0.651	0.66187	-1.0717	0.09043	T	0.088	0.34105	T	10	0.29323512	0.46899	T	0.028884	0.51492	D	0.177	0.44549	0.245	0.17984	0.043077524339	0.03247	0.8418700343198967	0.84147	0.030312355923	0.03129	0.704336345196	0.67771	T	0.354838	0.72193	T	-0.161902	0.26468	T	-0.301209	0.44598	T	0.775481700897217	0.44771	D	0.89491	0.64723	D	0.06660001	0.14346	0.12005448	0.28974	0.06660001	0.14346	0.12005448	0.28974	-7.312	0.56281	T	.	.	0.726	0.76737	P	.;.;.	.;.;.	5.066213	0.84472	28.3	0.99696346382072232	0.80316	0.97467	0.74937	D	AEFDGBCI	0.893412	0.83134	D	0.369889743334723	0.59798	4.16221	0.376490388871936	0.60118	4.196025	0.99999999772561	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.23	4.35	0.51454	6.768000	0.74775	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.9046:0.0:0.0954	9.803	0.39940	970	0.06235	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	955.44	38	chr8	143991731	.	C	T	955.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.117;DP=272;ExcessHet=0;FS=0.872;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=1.53;SOR=0.847	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1009	6	0	1	0
chr8	144059876	144059876	G	A	exonic	OPLAH	.	nonsynonymous SNV	OPLAH:NM_017570:exon2:c.C157T:p.R53C	5-oxoprolinase deficiency, Autosomal recessive, Autosomal dominant	6	1510	6	0	0	6	0.00198282	.	.	.	1505542	not_specified|not_provided|5-Oxoprolinase_deficiency	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0040142,MONDO:MONDO:0009825,MedGen:C0268525,OMIM:260005,Orphanet:33572	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.464	0.106804416074	0.0002	0.000199681	0.0003	0.0006	0.0007	0	0	0.0004	0	0.0001	0.0003363	52	154602	rs200381383	0.0003	0.0003	0.0002	0.0003	0.0047	0.0002	0.0002	0.0033	0.0028	0.0016	0.0002	0	2.519e-05	0	0.0047	0.0002	0.0006	3.478e-05	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0004	0	0.0001	0	0	0	0	0.0003	0.0009	0	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	.	.	.	.	.	.	.	.	.	.	.	.	0.851	0.84713	-0.0599	0.80995	T	0.373	0.73182	T	7	0.24267897	0.41468	T	0.106804	0.78259	D	.	.	.	.	0.371903410333	0.36803	0.865173144731121	0.86482	.	.	0.680520713329	0.64343	T	0.501331	0.82158	D	0.269967	0.80437	D	0.457429	0.93753	D	0.339549750089645	0.26606	T	0.995288	0.98392	D	0.4810885	0.65966	0.28459758	0.54459	0.4810885	0.65967	0.28459758	0.54458	-10.73	0.78156	D	.	.	0.312	0.59308	B	.;.	.;.	5.351767	0.89774	31	0.96713265898152223	0.30821	0.69059	0.34039	D	AEFDBHCI	0.505978	0.53690	D	0.51287177089997	0.67849	5.136998	0.490818065323159	0.67381	5.076275	0.99999999998717	0.74766	0.090766	0.02384	0	0.060609	0.00678	0	0.129117	0.03641	0	0.083433	0.02327	0	.	.	5.24	5.24	0.72863	1.359000	0.33717	.	.	0.676000	0.76740	0.993000	0.37899	1.000000	0.68203	0.725000	0.34934	0.0:0.0:0.8193:0.1807	11.412	0.49171	970	0.06235	Hydantoinaseoxoprolinase, N-terminal;Hydantoinaseoxoprolinase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.005051	0.023098	0.002924	0.000000	0.008621	0.000000	0.000000	0.07143	1095.45	34	chr8	144059876	.	G	A	1095.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.548;DP=318;ExcessHet=0;FS=0.79;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=0.602;SOR=0.8	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1240	6	0	1	0
chr8	144103611	144103611	G	C	exonic	SHARPIN	.	nonsynonymous SNV	SHARPIN:NM_030974:exon1:c.C143G:p.A48G	.	395	1121	6	0	0	6	0.00266904	.	.	.	2828664	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.185	0.2335277241	0.0016	0.000599042	0.0030	0	0.0083	0	0	0.0015	0	0.0037	0.0017011	263	154602	rs200972856	0.0066	0.0063	0.0068	0.0065	0.0074	0.0065	0.0064	0.0073	0.0072	0.0013	0.0059	0.0002	2.817e-05	0.0055	0.0007	0.0074	0.0064	0.0038	0.0041	0.0042	0.0041	0.0042	0.0064	0.0039	0.0038	0.0059	0.0057	0.0011	0.0033	0.0048	0	0	0.0042	0	0.0064	0.0061	0.0029	0.167	0.23095	T	0.037	0.51737	D	0.009	0.15093	B	0.001	0.04355	B	0.000145	0.49130	D	0.138765	0.736265	0.29780	N	2.48	0.72069	M	-2.05	0.85799	D	-1.95	0.45222	N	0.066	0.03841	-0.5753	0.65804	T	0.398	0.75045	T	10	0.005203724	0.00113	T	0.233528	0.88370	D	0.185	0.45933	.	.	0.688869075859	0.68620	0.4949850987767383	0.49419	0.165330610218	0.18651	0.820401191711	0.85088	D	0.182042	0.53392	T	-0.446718	0.01181	T	-0.408765	0.32368	T	0.0144275588540469	0.00291	T	0.539746	0.18256	T	0.29638177	0.52578	0.2540192	0.51060	0.29638177	0.52578	0.2540192	0.51059	-4.063	0.24743	T	.	.	0.163	0.36053	B	.	.	2.296976	0.29387	18.11	0.94084257808759719	0.24236	0.70388	0.34570	D	ALL	0.352137	0.44501	N	-0.643009291219837	0.17663	0.9108845	-0.57213109879121	0.20220	1.088446	0.999999999999962	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.55	2.75	0.31439	1.083000	0.30427	3.142000	0.36487	-0.120000	0.14102	0.032000	0.20554	0.862000	0.27499	0.708000	0.34389	0.0905:0.1605:0.749:0.0	8.041	0.29684	970	0.06235	Sharpin, PH domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001203	0.000000	0.000000	0.003448	0.000000	0.010870	0.003676	0.008850	0.07143	599.83	19	chr8	144103611	.	G	C	599.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.406;DP=168;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.66;ReadPosRankSum=-2.161;SOR=0.542	GT:AD:DP:GQ:PL	0/1:13,23:36:99:610,0,477	6	0	1	0
chr8	144109954	144109956	CTC	-	exonic	WDR97	.	nonframeshift deletion	WDR97:NM_001316309:exon5:c.1620_1622del:p.S542del	.	409	1109	4	0	0	4	0.00180018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	0.0001153	3	26028	rs754175553	0.0003	0.0003	0.0004	0.0003	0.0049	0.0003	0.0003	0.0033	0.0027	0.0013	0.0004	0	6.232e-05	0	0.0049	0.0003	0.0007	3.188e-05	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0002	0	0.0002	9.427e-05	0	0.0003	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	840.45	40	chr8	144109953	.	TCTC	T	840.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.59;DP=350;ExcessHet=0;FS=3.349;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=0.194;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:72,0:72:99:.:.:0,120,1800:.	6	0	1	0
chr8	144238795	144238795	G	A	exonic	MROH1	.	nonsynonymous SNV	MROH1:NM_001288814:exon14:c.G1378A:p.D460N,MROH1:NM_032450:exon15:c.G1378A:p.D460N	.	421	1069	32	0	0	32	0.0147465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0130622051755	.	.	.	.	.	.	.	.	.	.	.	.	.	rs919478621	0.0015	0.0016	0.0013	0.0017	0.0199	0.0014	0.0014	0.0160	0.0146	0.0006	0.0023	0.0017	2.773e-05	2.075e-05	0.0199	0.0010	0.0021	0.0043	0.0011	0.0011	0.0009	0.0013	0.0045	0.0009	0.0009	0.0037	0.0033	0.0003	0	0.0045	0.0003	0	9.411e-05	0.0068	0.0007	0.0033	0.0043	0.056	0.40319	T	0.11	0.37449	T	0.036	0.20732	B	0.004	0.10090	B	0.904292	0.08598	N	0.935823	0.565414	0.31222	N	1.705	0.44259	L	3.08	0.08460	T	-1.92	0.44657	N	0.198	0.21839	-1.0316	0.19937	T	0.018	0.07706	T	10	0.038000762	0.02189	T	0.013062	0.32163	T	0.066	0.19193	0.241	0.17371	0.043077524339	0.03247	0.2541313998507165	0.25327	0.211288233545	0.23638	0.625659644604	0.56529	T	0.017741	0.14423	T	-0.335318	0.05719	T	-0.719438	0.04823	T	0.20823460817337	0.20860	T	0.781822	0.41691	T	0.056680735	0.11184	0.071331814	0.15261	0.056680735	0.11184	0.071331814	0.15261	-9.708	0.72145	D	.	.	0.098	0.16886	B	.;.;.	.;.;.	2.684360	0.35026	19.79	0.98527730880921804	0.42545	0.73314	0.35864	D	AEFGI	0.111277	0.22036	N	-0.643073558727479	0.17662	0.9107683	-0.603233086864087	0.19410	1.041231	4.75162690537675E-4	0.07095	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	3.84	2.96	0.33383	2.623000	0.46101	5.238000	0.48053	0.604000	0.46097	0.192000	0.24212	1.000000	0.68203	0.018000	0.11154	0.1096:0.0:0.8904:0.0	9.514	0.38255	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	587.44	33	chr8	144238795	.	G	A	587.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.825;DP=238;ExcessHet=0;FS=1.007;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=-2.523;SOR=0.518	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	6	0	1	0
chr8	144254941	144254941	G	A	exonic	MROH1	.	nonsynonymous SNV	MROH1:NM_001288814:exon32:c.G3530A:p.R1177H,MROH1:NM_032450:exon34:c.G3557A:p.R1186H	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00832055255969	.	.	.	.	.	.	.	.	.	.	.	.	.	rs964017162	0.0004	0.0004	0.0002	0.0005	0.0028	0.0003	0.0003	0.0025	0.0024	5.684e-05	4.636e-05	0.0004	2.786e-05	3.895e-05	0	5.169e-05	0.0004	0.0028	0.0001	0.0001	6.427e-05	0.0001	0.0021	6.51e-05	5.322e-05	0.0011	0.0009	2.408e-05	0	0	0.0006	0.0002	0	0	2.941e-05	0	0.0021	0.108	0.31235	T	0.033	0.53072	D	0.925	0.58310	P	0.143	0.43183	B	0.823486	0.06898	N	1.095830	0.999993	0.18198	N	0	0.06538	N	5.06	0.03297	T	-0.93	0.27463	N	0.061	0.03613	-0.9268	0.44602	T	0.008	0.02638	T	10	0.07612148	0.11850	T	0.008321	0.22029	T	0.056	0.15993	0.449	0.50957	0.043077524339	0.03247	0.5034228181579242	0.50264	0.267618653401	0.29305	0.546966910362	0.45429	T	0.010236	0.09261	T	-0.2878	0.09858	T	-0.651181	0.08871	T	0.299656816182534	0.24990	T	0.909809	0.68064	D	0.10256445	0.24236	0.06413363	0.12809	0.10256445	0.24236	0.06413363	0.12809	-4.452	0.32497	T	.	.	0.079	0.08997	B	.;.;.;.	.;.;.;.	2.494733	0.32192	18.97	0.99868628344796939	0.94637	0.27354	0.23254	N	AEFGI	0.172062	0.29907	N	-0.388369508091481	0.25883	1.408354	-0.407877216266648	0.24766	1.358042	2.3590173699657E-4	0.06095	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	3.97	3.07	0.34476	0.989000	0.29229	2.884000	0.35347	0.672000	0.70159	0.047000	0.21291	0.490000	0.25148	0.081000	0.17303	0.1093:0.1969:0.6937:0.0	5.946	0.18454	940	0.13648	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	611.46	34	chr8	144254941	.	G	A	611.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.944;DP=232;ExcessHet=0;FS=2.434;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-1.203;SOR=0.667	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1192	6	0	1	0
chr8	144258878	144258878	C	T	exonic	MROH1	.	nonsynonymous SNV	MROH1:NM_001288814:exon34:c.C3866T:p.S1289L,MROH1:NM_032450:exon36:c.C3893T:p.S1298L	.	407	1110	3	2	0	7	0.00314324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.0337670213489	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1005336507	0.0022	0.0022	0.0022	0.0021	0.0060	0.0021	0.0020	0.0037	0.0031	0.0011	0.0007	0.0016	0	0.0003	0.0060	0.0033	0.0016	0.0003	0.0021	0.0021	0.0021	0.0020	0.0035	0.0019	0.0018	0.0032	0.0030	0.0007	0	0.0018	0.0017	0	0.0003	0.0034	0.0035	0.0033	0.0002	0.034	0.45039	D	0.032	0.92824	D	0.997	0.73220	D	0.788	0.74454	P	0.006001	0.32354	N	0.197732	1	0.08975	N	2.015	0.55033	M	1.0	0.41392	T	-3.21	0.66206	D	0.328	0.38129	-0.8534	0.51732	T	0.220	0.58358	T	10	0.10876858	0.20263	T	0.033767	0.55213	D	0.107	0.30369	0.319	0.29741	0.110392049598	0.10638	0.3797835650580712	0.37893	0.194208701575	0.21755	0.70612347126	0.68031	T	0.028408	0.20584	T	-0.134168	0.30822	T	-0.430499	0.29879	T	0.978583574295044	0.72399	D	0.928507	0.73679	D	0.15568125	0.35173	0.14618824	0.34642	0.15568125	0.35172	0.14618824	0.34641	-3.475	0.21253	T	.	.	0.109	0.21877	B	.;.;.;.	.;.;.;.	3.032701	0.40627	21.2	0.99771708899876155	0.86003	0.73150	0.35785	D	AEFGI	0.192734	0.31988	N	0.258045633147015	0.54039	3.570457	0.150365078966404	0.47162	2.950548	0.61949960253286	0.21873	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	4.28	4.28	0.50183	1.745000	0.37904	1.415000	0.26314	0.599000	0.40250	0.003000	0.16062	0.001000	0.17328	0.370000	0.26111	0.0:1.0:0.0:0.0	14.252	0.65575	940	0.13648	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	845.63	36	chr8	144258878	.	C	T	845.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.621;DP=250;ExcessHet=0;FS=0.928;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.29;SOR=0.91	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1089	6	0	1	0
chr8	144263361	144263361	G	A	exonic	BOP1	.	nonsynonymous SNV	BOP1:NM_015201:exon12:c.C1465T:p.R489W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0262774453275	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169068213	1.938e-05	2.257e-05	1.103e-05	2.781e-05	2.992e-05	1.344e-05	1.157e-05	1.175e-05	9.55e-06	2.992e-05	0	0	0	0.0001	0	1.799e-05	1.664e-05	2.323e-05	3.286e-05	3.283e-05	2.57e-05	4.036e-05	5.881e-05	1.261e-05	7.98e-06	1.972e-05	1.125e-05	2.413e-05	0	0	0	0	0	0	5.881e-05	0	0	0.034	0.44029	D	0.007	0.69154	D	.	.	.	.	.	.	0.003691	0.34611	N	0.226724	.	.	.	.	.	.	1.03	0.40469	T	-4.76	0.80340	D	0.267	0.30233	-0.7259	0.59169	T	0.146	0.46985	T	6	0.24793833	0.42083	T	0.154391	0.83550	D	.	.	.	.	0.384586903782	0.38071	0.5885686835714561	0.58786	.	.	0.859900355339	0.91096	D	0.204461	0.56324	T	-0.0876182	0.38468	T	-0.363634	0.37633	T	0.979296267032623	0.72758	D	.	.	.	0.17763956	0.38741	0.17460252	0.39867	0.17763956	0.38740	0.17460252	0.39866	-11.994	0.84822	D	.	.	0.109	0.20857	B	.	.	4.654834	0.74232	26.1	0.99850053989985499	0.92925	0.11362	0.16583	N	AEFI	0.376852	0.46084	N	-0.3973019321735	0.25565	1.388709	-0.502860905180385	0.22076	1.197254	7.94527590863197E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	3.33	-0.133	0.12827	0.399000	0.20641	2.312000	0.32082	0.656000	0.54149	0.001000	0.13787	0.997000	0.33255	0.427000	0.27384	0.0:0.0:0.306:0.694	10.102	0.41682	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	323.83	37	chr8	144263361	.	G	A	323.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.253;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=0.032;SOR=0.446	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,100,1212	6	0	1	0
chr8	144264233	144264233	C	T	exonic	BOP1	.	nonsynonymous SNV	BOP1:NM_015201:exon7:c.G970A:p.E324K	.	421	1085	16	0	0	16	0.0073193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0192376660274	.	.	.	.	.	.	.	.	.	.	.	.	.	rs904680381	0.0013	0.0013	0.0012	0.0014	0.0097	0.0013	0.0012	0.0076	0.0068	0.0003	0.0015	0.0173	2.528e-05	3.861e-05	0.0097	0.0010	0.0028	0.0013	0.0014	0.0014	0.0013	0.0015	0.0018	0.0012	0.0012	0.0012	0.0011	0.0005	0.0121	0.0018	0.0164	0	0	0.0068	0.0012	0.0024	0.0004	0.228	0.18434	T	0.15	0.32461	T	.	.	.	.	.	.	0.001395	0.39175	N	0.211078	.	.	.	.	.	.	1.07	0.39586	T	-2.44	0.53420	N	0.236	0.26596	-0.8609	0.51198	T	0.114	0.40559	T	6	0.014840722	0.00312	T	0.10154	0.77448	D	.	.	.	.	0.283272178027	0.27931	0.43584697494302443	0.43501	.	.	0.764852046967	0.76653	T	0.194478	0.55027	T	-0.188948	0.22413	T	-0.509187	0.21399	T	0.872432172298431	0.52231	D	.	.	.	0.09370612	0.22014	0.1122232	0.27075	0.09370612	0.22014	0.1122232	0.27074	-9.848	0.72997	D	.	.	0.092	0.13783	B	.	.	1.559095	0.19974	14.53	0.97557370007692779	0.34604	0.30039	0.23979	N	AEFGI	0.308554	0.41510	N	-0.477214403953392	0.22830	1.221735	-0.552560978675029	0.20738	1.118674	0.0671524018112715	0.15417	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	3.56	2.67	0.30756	0.739000	0.25841	1.068000	0.23780	-0.195000	0.09104	0.008000	0.17931	0.307000	0.24252	0.001000	0.02609	0.0:0.8837:0.0:0.1163	8.855	0.34379	946	0.12043	BOP1, N-terminal domain|BOP1, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1783.44	44	chr8	144264233	.	C	T	1783.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.324;DP=347;ExcessHet=0;FS=6.139;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=2.01;SOR=0.799	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,100,1212	6	0	1	0
chr8	144397776	144397782	CCACTGC	-	exonic	CPSF1	.	frameshift deletion	CPSF1:NM_013291:exon21:c.2171_2177del:p.R724Pfs*83	.	409	1110	3	0	0	3	0.00134953	.	.	.	1290049	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0012	0.00239617	0.0005	0.0022	0.0006	0	0	0.0004	0	0	0.0001537	4	26028	rs545383870	0.0004	0.0004	0.0004	0.0004	0.0062	0.0004	0.0004	0.0055	0.0052	0.0062	0.0013	0.0020	0	0	0.0038	0.0002	0.0014	0	0.0017	0.0017	0.0019	0.0014	0.0048	0.0015	0.0014	0.0043	0.0041	0.0048	0	0.0009	0.0020	0	0	0.0136	0.0004	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1909.5	53	chr8	144397775	.	GCCACTGC	G	1909.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.416;DP=437;ExcessHet=0;FS=14.28;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=24.17;ReadPosRankSum=1.33;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:98,0:98:99:.:.:0,120,1800:.	6	0	1	0
chr8	144397789	144397790	CG	-	exonic	CPSF1	.	frameshift deletion	CPSF1:NM_013291:exon21:c.2163_2164del:p.G723Pfs*14	.	408	1111	3	0	0	3	0.00134831	.	.	.	1290052	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0011	0.00239617	0.0004	0.0019	0.0006	0	0	0.0004	0	0	0.0003234	50	154602	rs562635122	0.0004	0.0004	0.0004	0.0004	0.0062	0.0004	0.0004	0.0055	0.0052	0.0062	0.0013	0.0020	0	0	0.0038	0.0002	0.0014	0	0.0017	0.0017	0.0019	0.0014	0.0048	0.0015	0.0014	0.0042	0.0040	0.0048	0	0.0009	0.0020	0	0	0.0136	0.0004	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1867.45	53	chr8	144397788	.	CCG	C	1867.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.737;DP=441;ExcessHet=0;FS=16.719;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=23.64;ReadPosRankSum=1.54;SOR=0.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:98,0:98:99:.:.:0,120,1800:.	6	0	1	0
chr8	144473375	144473375	G	A	exonic	KIFC2	.	nonsynonymous SNV	KIFC2:NM_001369769:exon18:c.G2362A:p.G788S	.	419	1085	18	0	0	18	0.00822669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0053	0.00219649	0.0127	0.0017	0.0080	0	0.0122	0.0204	0	0.0053	0.0047477	734	154602	rs201074786	0.0088	0.0088	0.0090	0.0087	0.0102	0.0087	0.0087	0.0101	0.0100	0.0016	0.0048	0.0075	2.656e-05	0.0040	0.0045	0.0102	0.0079	0.0033	0.0063	0.0063	0.0065	0.0061	0.0100	0.0060	0.0058	0.0094	0.0092	0.0017	0.0099	0.0063	0.0066	0	0.0039	0.0238	0.0100	0.0071	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.922249	0.27265	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003955841	0.00076	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427357	0.11519	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.08368	B	.	.	1.176218	0.15662	12.01	0.79034809031486375	0.12561	0.11736	0.16829	N	AEFDBCI	0.010002	0.00065	N	-0.567136055441639	0.19950	1.048079	-0.732243169405619	0.16160	0.8535348	0.999969881673535	0.48965	0.676563	0.55306	0	0.958517	0.99986	0	0.52208	0.10781	0	0.620976	0.48614	0	.	.	3.48	1.66	0.23081	0.369000	0.20149	1.955000	0.29907	0.618000	0.50648	0.035000	0.20724	0.988000	0.31051	0.039000	0.14166	0.2172:0.0:0.7828:0.0	7.859	0.28662	940	0.13648	.	BOP1	Brain_Hypothalamus	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003564	0.000000	0.005464	0.000000	0.000000	0.008772	0.003125	0.000000	0.07143	578.46	34	chr8	144473375	.	G	A	578.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.192;DP=234;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.389;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,106,1231	6	0	1	0
chr8	144512247	144512247	C	T	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon18:c.G3133A:p.A1045T	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	YES	138887	Baller-Gerold_syndrome|Rapadilino_syndrome|not_provided|RECQL4-related_disorder|not_specified|Rothmund-Thomson_syndrome_type_2	MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225|MONDO:MONDO:0009955,MedGen:C1849453,OMIM:266280,Orphanet:3021|MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0016369,MedGen:C5203410,OMIM:268400,Orphanet:221016	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0030	0.00399361	0.0012	0.0112	0.0007	0.0020	0	0.0002	0	6.074e-05	0.001216	188	154602	rs35348691	0.0005	0.0005	0.0005	0.0005	0.0106	0.0005	0.0004	0.0097	0.0094	0.0106	0.0014	0.0010	0.0010	0	0.0026	9.894e-05	0.0015	0.0001	0.0036	0.0036	0.0038	0.0035	0.0117	0.0034	0.0033	0.0109	0.0105	0.0117	0	0.0029	0.0012	0.0008	0	0	5.881e-05	0.0043	0.0002	.	.	.	0.52	0.38160	T	0.89	0.48942	P	0.261	0.39516	B	.	.	.	.	.	.	.	2.635	0.77114	M	.	.	.	.	.	.	0.097	0.12484	.	.	.	.	.	.	.	0.0045722723	0.00095	T	.	.	.	.	.	.	.	0.689604367157	0.68694	0.11929209556668262	0.11856	.	.	0.337042570114	0.15994	T	0.011554	0.25615	T	-0.371329	0.03527	T	-0.298203	0.44915	T	.	.	.	0.849515	0.53247	T	0.025144268	0.01419	0.0876284	0.20381	0.03714392	0.04707	0.08291603	0.18961	-4.918	0.35937	T	0.29070564616817923	0.38721	0.083	0.11510	B	.;.;.	.;.;.	1.006230	0.13851	10.40	0.72434867363369804	0.09972	0.46003	0.27663	N	AEFGBCI	0.118593	0.23183	N	.	.	.	.	.	.	0.99999935194341	0.74766	0.295142	0.05270	0	0.278934	0.05175	0	0.299256	0.05649	0	0.322829	0.05601	0	.	.	5.37	2.4	0.28568	0.075000	0.14547	0.862000	0.22237	-0.223000	0.07921	0.000000	0.06391	0.276000	0.24078	0.002000	0.04165	0.1635:0.52:0.3165:0.0	8.599	0.32896	900	0.24599	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003528	0.000000	0.010899	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	3188.45	38	chr8	144512247	.	C	T	3188.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.396;DP=611;ExcessHet=0;FS=2.98;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=0.648;SOR=0.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,131:228:99:0|1:144512247_C_T:3199,0,2154:144512247	6	0	1	0
chr8	144807638	144807638	C	G	exonic	ZNF517	.	nonsynonymous SNV	ZNF517:NM_001317936:exon5:c.C701G:p.A234G,ZNF517:NM_001384904:exon5:c.C722G:p.A241G,ZNF517:NM_213605:exon5:c.C722G:p.A241G,ZNF517:NM_001384905:exon6:c.C722G:p.A241G	.	429	1069	24	0	0	24	0.0111008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00084795732836	0.0003	0.000399361	0.0017	0	0.0006	0.0002	0.0003	0.0005	0.0059	0.0085	0.0010996	170	154602	rs145328614	0.0008	0.0008	0.0005	0.0011	0.0087	0.0008	0.0008	0.0076	0.0074	8.975e-05	0.0002	0.0015	2.524e-05	5.889e-05	0.0087	0.0003	0.0010	0.0081	0.0005	0.0005	0.0004	0.0007	0.0075	0.0004	0.0004	0.0055	0.0049	2.406e-05	0	0.0001	0.0006	0	9.418e-05	0.0068	0.0005	0.0005	0.0075	0.093	0.31532	T	0.035	0.52389	D	0.026	0.19406	B	0.026	0.20792	B	.	.	.	.	1	0.81001	D	-0.44	0.02835	N	2.13	0.19588	T	-2.48	0.54059	N	0.083	0.08088	-1.0289	0.20811	T	0.034	0.14552	T	9	0.005225897	0.00114	T	8.48E-4	0.00734	T	0.033	0.08068	.	.	0.0954503805726	0.09146	0.02932518378202898	0.02881	0.278568782868	0.30341	0.395311534405	0.24415	T	0.020404	0.16069	T	-0.57809	0.00198	T	-0.598737	0.12917	T	0.0217084522860914	0.00877	T	0.320768	0.06490	T	0.15683421	0.35371	0.16436942	0.38081	0.15683421	0.35371	0.16436942	0.38080	-5.478	0.41662	T	.	.	0.138	0.30211	B	.;.	.;.	2.431960	0.31291	18.70	0.99483157296345304	0.67014	0.01006	0.03801	N	AEFDBI	0.030302	0.03023	N	-0.464442923937653	0.23253	1.247385	-0.44975781783289	0.23556	1.285203	0.887889848489239	0.25776	0.718356	0.82227	0	0.577304	0.33150	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	2.7	2.7	0.31007	-0.193000	0.09572	-1.722000	0.04847	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.884000	0.42379	0.0:0.5886:0.4114:0.0	8.639	0.33126	680	0.59965	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005056	0.005051	0.001359	0.008772	0.000000	0.008621	0.003125	0.011364	0.08333	1065.27	51	chr8	144807638	.	C	G	1065.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.224;DP=269;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=1.29;SOR=0.771	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1033	5	0	1	1
chr8	144807888	144807888	G	T	exonic	ZNF517	.	nonsynonymous SNV	ZNF517:NM_001317936:exon5:c.G951T:p.Q317H,ZNF517:NM_001384904:exon5:c.G972T:p.Q324H,ZNF517:NM_213605:exon5:c.G972T:p.Q324H,ZNF517:NM_001384905:exon6:c.G972T:p.Q324H	.	419	1060	41	2	0	45	0.0207852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0004	0.000599042	0.0029	0	0.0028	0.0002	0	0.0015	0.0026	0.0170	0.0015653	242	154602	rs142358445	0.0012	0.0012	0.0008	0.0015	0.0106	0.0011	0.0011	0.0099	0.0097	9.43e-05	0.0013	0.0036	2.566e-05	4.283e-05	0.0106	0.0005	0.0018	0.0105	0.0008	0.0009	0.0007	0.0010	0.0099	0.0007	0.0007	0.0077	0.0069	0.0001	0	0.0016	0.0017	0	9.413e-05	0.0068	0.0005	0.0024	0.0099	0.002	0.72154	D	0.001	0.83351	D	0.977	0.58535	D	0.721	0.54900	P	.	.	.	.	1	0.08975	N	1.165	0.29723	L	0.68	0.51952	T	-2.4	0.52776	N	0.093	0.07949	-1.0384	0.17802	T	0.051	0.21650	T	9	0.004741341	0.00100	T	.	.	.	0.094	0.27141	0.582	0.70861	0.391000631824	0.38715	0.20662803744608674	0.20578	0.546712786564	0.51655	0.457841545343	0.33015	T	0.073538	0.34722	T	-0.487576	0.00670	T	-0.463751	0.26193	T	0.0529239228263996	0.06006	T	0.917708	0.70434	D	0.18125005	0.39286	0.16418901	0.38047	0.18125005	0.39286	0.16418901	0.38046	-5.988	0.46179	T	.	.	0.505	0.64821	A	.;.	.;.	1.969233	0.25016	16.61	0.99102405723314768	0.52496	0.10551	0.16026	N	AEFGBI	0.043680	0.06934	N	-0.588855039103326	0.19282	1.007933	-0.714412742383216	0.16602	0.8790396	0.31948129485906	0.19369	0.695654	0.57023	0	0.379588	0.06130	0	0.723109	0.80598	0	0.491896	0.07777	0	.	.	2.83	1.92	0.24912	0.966000	0.28929	1.373000	0.25972	0.670000	0.69193	0.032000	0.20554	0.038000	0.21505	0.122000	0.19250	0.2894:0.0:0.7106:0.0	4.035	0.09211	675	0.60470	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010101	0.005155	0.006793	0.005848	0.000000	0.034483	0.012270	0.015152	0.07143	651.49	51	chr8	144807888	.	G	T	651.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.494;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-1.316;SOR=0.616	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1033	6	0	1	0
chr8	145054090	145054090	G	A	exonic	C8orf33	.	nonsynonymous SNV	C8orf33:NM_023080:exon5:c.G623A:p.R208H	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.00315359631095	7.7e-05	.	4.942e-05	0.0002	8.637e-05	0	0	2.997e-05	0	6.056e-05	5.17e-05	8	154602	rs201217995	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	9.833e-05	0.0002	0.0001	8.961e-05	0.0003	0	2.519e-05	0	0	0.0001	0.0002	2.319e-05	0.0002	0.0002	0.0002	0.0002	0.0015	0.0002	0.0001	0.0010	0.0009	0.0001	0	0.0015	0	0	0	0	8.819e-05	0	0	0.011	0.55530	D	0.138	0.33780	T	1.0	0.90584	D	0.997	0.86255	D	0.082926	0.20781	N	0.454617	1	0.08975	N	2.6	0.76081	M	.	.	.	-1.26	0.31778	N	0.073	0.04668	-0.9632	0.38567	T	0.199	0.55428	T	8	0.075226605	0.11600	T	0.003154	0.06876	T	0.201	0.48592	.	.	0.31077124679	0.30691	0.18116480256894793	0.18035	0.428538840391	0.43169	.	.	.	0.009849	0.08936	T	-0.283436	0.10307	T	-0.322947	0.42250	T	0.0784311890602112	0.09786	T	0.755224	0.37818	T	0.062405445	0.13029	0.048847742	0.07343	0.062405445	0.13029	0.048847742	0.07342	-5.874	0.45212	T	.	.	0.090	0.16494	B	.;.;.;.;.	.;.;.;.;.	2.513614	0.32468	19.05	0.99865774765879256	0.94366	0.10930	0.16291	N	AEFDBI	0.097459	0.19657	N	0.0355165213204404	0.43476	2.639844	-0.15173210364175	0.33343	1.906239	0.999999912828421	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.32	3.32	0.37134	0.231000	0.17651	4.003000	0.41092	0.654000	0.53741	0.012000	0.18695	1.000000	0.68203	0.082000	0.17360	0.0:0.0:1.0:0.0	10.396	0.43387	531	0.73574	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	63.44	33	chr8	145054090	.	G	A	63.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.524;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=1.65;SOR=1.179	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	941.36	11	chr9	117371	.	C	*	941.36	.	AC=3;AF=0.25;AN=12;DP=73;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=40.02;QD=25.44;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,9:15:99:1|0:117366_C_CCG:598,224,209:117366	4	1	1	1
chr9	368133	368133	C	T	exonic	DOCK8	.	nonsynonymous SNV	DOCK8:NM_001190458:exon14:c.C1591T:p.P531S,DOCK8:NM_001193536:exon14:c.C1591T:p.P531S,DOCK8:NM_203447:exon15:c.C1795T:p.P599S	Hyper-IgE recurrent infection syndrome, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	0.9954	0.614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.0145350648553	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1157264680	6.846e-07	1.368e-06	0	1.376e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	0.91255	T	0.217	0.92824	T	0.256	0.90584	B	0.304	0.84481	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.14	0.59869	M	2.49	0.15376	T	-4.16	0.75375	D	0.65	0.72656	-1.1218	0.02221	T	0.102	0.37718	T	10	0.26570332	0.44069	T	0.014535	0.34724	T	0.228	0.52768	0.39	0.41279	0.52891208781	0.52539	0.3287335140405198	0.32786	0.296124779412	0.31998	0.677745580673	0.63945	T	0.286771	0.65956	T	0.0704388	0.60904	D	0.0325322	0.72442	D	0.97446221113205	0.70519	D	0.951905	0.81545	D	0.2653864	0.49607	0.41181648	0.65402	0.2653864	0.49607	0.41181648	0.65402	-9.733	0.72297	D	0.2721222812356724	0.36591	0.113	0.38318	B	.;.;.;.	.;.;.;.	4.645457	0.73998	26.1	0.9969937515809042	0.80522	0.96428	0.69091	D	AEFDBI	0.768198	0.70383	D	0.282306345308737	0.55249	3.689326	0.334627646138535	0.57587	3.924919	0.999999999999764	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.15	5.15	0.70287	6.077000	0.70910	7.620000	0.62269	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.575000	0.30772	0.0:1.0:0.0:0.0	18.997	0.92794	822	0.40702	DHR-1 domain|DHR-1 domain|Dedicator of cytokinesis C, C2 domain;.;.;DHR-1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	74.22	35	chr9	368133	.	C	T	74.22	.	AC=2;AF=0.143;AN=14;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=28.79;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1126:.	6	1	0	0
chr9	434892	434892	G	C	exonic	DOCK8	.	nonsynonymous SNV	DOCK8:NM_001190458:exon37:c.G4696C:p.V1566L,DOCK8:NM_001193536:exon38:c.G4792C:p.V1598L,DOCK8:NM_203447:exon39:c.G4996C:p.V1666L	Hyper-IgE recurrent infection syndrome, autosomal recessive, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0230074706486	.	.	8.254e-06	0	0	0	0	0	0	6.062e-05	6.5e-06	1	154602	rs768545433	2.737e-06	2.736e-06	0	5.501e-06	0.0002	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0.0002	0	0	3.478e-05	6.57e-06	6.566e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.14	0.25664	T	0.152	0.32461	T	0.009	0.15093	B	0.035	0.22741	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.95	0.52479	M	-0.28	0.67543	T	-2.39	0.52612	N	0.611	0.85554	-0.8587	0.51356	T	0.213	0.57401	T	10	0.4116573	0.56266	T	0.023007	0.45945	T	0.290	0.60924	0.432	0.48171	0.662613171164	0.65978	0.5812722662134858	0.58056	0.0699174379648	0.07831	0.788560688496	0.80224	T	0.166128	0.51225	T	0.0929959	0.63524	D	-0.00734025	0.69858	D	0.628335654735565	0.37549	D	0.982402	0.94055	D	0.32018855	0.54656	0.29093933	0.55118	0.32018855	0.54656	0.29093933	0.55117	-7.136	0.55020	T	0.2264415059736271	0.30604	0.377	0.61937	A	.;.;.;.	.;.;.;.	4.005335	0.59046	24.1	0.99103904021037093	0.52546	0.99030	0.90202	D	AEFGBI	0.907881	0.86246	D	0.0538980001736504	0.44322	2.708381	0.229644330954156	0.51500	3.331935	0.999999999999998	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.04	5.04	0.67293	9.872000	0.98474	11.800000	0.96626	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.717000	0.34675	0.0:0.0:1.0:0.0	18.584	0.91136	776	0.48302	Dedicator of cytokinesis, C-terminal|DHR-2 domain;.;.;Dedicator of cytokinesis, C-terminal|DHR-2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1804.44	33	chr9	434892	.	G	C	1804.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.814;DP=300;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.19;ReadPosRankSum=-0.258;SOR=0.771	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	6	0	1	0
chr9	713428	713428	C	G	exonic	KANK1	.	nonsynonymous SNV	KANK1:NM_001354335:exon2:c.C2188G:p.P730A,KANK1:NM_001354336:exon2:c.C2188G:p.P730A,KANK1:NM_001354337:exon2:c.C2188G:p.P730A,KANK1:NM_001354338:exon2:c.C2188G:p.P730A,KANK1:NM_001354339:exon2:c.C2188G:p.P730A,KANK1:NM_001354340:exon2:c.C2188G:p.P730A,KANK1:NM_001354341:exon2:c.C2188G:p.P730A,KANK1:NM_001354342:exon2:c.C2188G:p.P730A,KANK1:NM_001354343:exon2:c.C2188G:p.P730A,KANK1:NM_001354344:exon2:c.C2188G:p.P730A,KANK1:NM_153186:exon2:c.C2188G:p.P730A,KANK1:NM_001354331:exon3:c.C2662G:p.P888A,KANK1:NM_001354332:exon3:c.C2662G:p.P888A,KANK1:NM_001354333:exon3:c.C2188G:p.P730A,KANK1:NM_015158:exon3:c.C2662G:p.P888A,KANK1:NM_001256877:exon4:c.C2662G:p.P888A,KANK1:NM_001354334:exon4:c.C2662G:p.P888A,KANK1:NM_001256876:exon7:c.C2662G:p.P888A	Cerebral palsy, spastic quadriplegic, 2	0	1512	10	0	0	10	0.00329598	.	.	.	751755	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.015	0.00429627321438	7.7e-05	0.00139776	0.0010	0	0	0	0	3.081e-05	0	0.0089	0.0008279	128	154602	rs374172115	0.0004	0.0004	0.0002	0.0006	0.0068	0.0004	0.0004	0.0063	0.0061	0	0	0.0004	0	0	0.0012	9.927e-06	0.0004	0.0068	0.0002	0.0002	8.997e-05	0.0004	0.0072	0.0002	0.0002	0.0054	0.0047	2.405e-05	0	0	0	0	0	0	0	0.0005	0.0072	0.761	0.03471	T	0.891	0.03428	T	0.006	0.13644	B	0.005	0.11217	B	0.921180	0.08486	N	0.961032	1	0.08975	N	1.265	0.31966	L	2.25	0.17761	T	0.03	0.06612	N	0.176	0.23380	-0.9603	0.39124	T	0.018	0.07423	T	10	0.003571123	0.00065	T	0.004296	0.10404	T	0.015	0.02232	.	.	0.0297737177859	0.01360	0.056704437768185734	0.05611	.	.	0.225619286299	0.01660	T	0.013045	0.11355	T	-0.687216	0.00043	T	-0.754928	0.03297	T	0.00937458822451532	0.00120	T	0.680032	0.28847	T	0.049087267	0.08660	0.02691896	0.00809	0.05192367	0.09608	0.02907938	0.01208	-4.376	0.29230	T	0.1266855341724846	0.12836	0.064	0.01762	B	.;.;.;.	.;.;.;.	-0.293123	0.02648	0.336	0.51266759792599514	0.04532	0.20890	0.21206	N	AEFDBCIJ	0.121980	0.23691	N	-1.36940994262032	0.02929	0.130068	-1.40071422032754	0.03245	0.1509954	0.999999987600815	0.74766	0.722319	0.85440	0	0.59043	0.45803	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.97	-8.43	0.00833	-1.523000	0.02339	-2.329000	0.03893	-0.220000	0.07995	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.297:0.2247:0.3183:0.16	2.084	0.03421	725	0.54935	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	545.27	30	chr9	713428	.	C	G	545.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.541;DP=196;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-0.738;SOR=0.804	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	1	1
chr9	894044	894044	A	G	exonic	DMRT1	.	nonsynonymous SNV	DMRT1:NM_001363767:exon3:c.A197G:p.N66S,DMRT1:NM_021951:exon3:c.A671G:p.N224S	.	0	1493	29	0	0	29	0.00961857	.	.	.	244090	Non-obstructive_azoospermia|not_provided	Human_Phenotype_Ontology:HP:0011961,MedGen:C4021107|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.229	.	0.0016	0.00239617	0.0026	0.0002	0.0012	0.0001	0.0011	0.0015	0.0033	0.0109	0.002348	363	154602	rs140506267	0.0018	0.0018	0.0014	0.0022	0.0124	0.0017	0.0017	0.0118	0.0116	0.0001	0.0013	0.0047	5.038e-05	0.0016	0.0061	0.0010	0.0023	0.0124	0.0015	0.0015	0.0013	0.0017	0.0122	0.0013	0.0013	0.0097	0.0088	0.0003	0	0.0019	0.0075	0.0004	0.0014	0.0068	0.0011	0.0028	0.0122	0.001	0.78490	D	0.022	0.69154	D	0.979	0.59044	D	0.679	0.53442	P	0.000000	0.84330	D	0.000000	0.999518	0.47363	D	3.135	0.88152	M	1.84	0.43672	T	-3.78	0.75695	D	0.744	0.89020	-0.7551	0.57668	T	0.176	0.52115	T	10	0.01156497	0.00252	T	.	.	.	0.229	0.52916	.	.	0.587613165634	0.58436	0.33559741074806654	0.33472	0.638416995762	0.57562	0.658247947693	0.61158	T	0.610971	0.87670	D	-0.418298	0.01754	T	-0.363245	0.37677	T	0.0462759055615867	0.04833	T	0.936706	0.76258	D	0.5308503	0.68879	0.56086373	0.74592	0.5545526	0.70210	0.46176293	0.68746	-2.131	0.03719	T	0.2878324403040833	0.38403	0.126	0.37140	B	.;.	.;.	4.233463	0.64133	24.7	0.99889984710269808	0.96436	0.94620	0.61762	D	ALL	0.719920	0.67065	D	0.686505212860892	0.78749	6.934564	0.646738016627212	0.78370	6.862212	0.999999999985881	0.74766	0.520426	0.21595	0	0.573149	0.20659	1	0.440839	0.06518	1	0.636	0.56748	0	.	.	5.92	4.78	0.60666	6.663000	0.74276	9.343000	0.80233	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.9324:0.0:0.0676:0.0	11.922	0.52081	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.005435	0.008772	0.000000	0.008621	0.006098	0.007576	0.07143	1987.53	34	chr9	894044	.	A	G	1987.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.755;DP=393;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=0.929;SOR=0.673	GT:AD:DP:GQ:PL	0/1:84,81:165:99:1998,0,2183	6	0	1	0
chr9	990235	990235	C	T	exonic	DMRT3	.	nonsynonymous SNV	DMRT3:NM_021240:exon2:c.C649T:p.R217C	.	432	1085	5	0	0	5	0.00229885	.	.	.	712103	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.074	.	0.0047	0.00199681	0.0043	0.0014	0.0026	0.0001	0.0056	0.0064	0.0044	0.0008	0.0044178	683	154602	rs61737966	0.0060	0.0060	0.0061	0.0058	0.0071	0.0059	0.0058	0.0070	0.0069	0.0008	0.0030	0.0016	0	0.0054	0.0009	0.0071	0.0048	0.0007	0.0047	0.0047	0.0049	0.0045	0.0078	0.0044	0.0043	0.0073	0.0070	0.0009	0	0.0044	0.0037	0.0002	0.0056	0	0.0078	0.0038	0.0002	0.149	0.32610	T	0.058	0.46182	T	0.002	0.09854	B	0.001	0.04355	B	0.130585	0.18653	N	0.471170	0.58522	0.32409	D	1.475	0.37068	L	1.45	0.32482	T	-2.9	0.81910	D	0.136	0.13341	-1.0133	0.25880	T	0.046	0.19599	T	10	0.00385046	0.00073	T	.	.	.	0.074	0.21613	.	.	0.522559126029	0.51901	0.13200103899700819	0.13125	0.103091269234	0.11663	0.245516985655	0.03310	T	0.290066	0.66284	T	-0.605483	0.00135	T	-0.637384	0.09861	T	0.0135820755752156	0.00251	T	0.661834	0.33613	T	0.08333289	0.19240	0.07840569	0.17557	0.08333289	0.19240	0.07840569	0.17556	-4.162	0.26199	T	.	.	0.071	0.15206	B	.;.	.;.	2.241591	0.28623	17.86	0.95433849134879789	0.26929	0.83768	0.42865	D	AEFBI	0.361137	0.45086	N	-0.401251304049237	0.25426	1.380115	-0.356390864428601	0.26312	1.452523	0.448340695626319	0.20517	0.487112	0.14033	0	0.563428	0.19063	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	4.8	1.49	0.21966	2.455000	0.44645	2.759000	0.34591	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.439000	0.27649	0.3549:0.5579:0.0:0.0872	7.736	0.27978	884	0.28482	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	2342.53	33	chr9	990235	.	C	T	2342.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.03;DP=304;ExcessHet=0;FS=14.029;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.45;ReadPosRankSum=-0.548;SOR=0.375	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1298	6	0	1	0
chr9	1057250	1057250	G	T	exonic	DMRT2	.	nonsynonymous SNV	DMRT2:NM_001370532:exon3:c.G1141T:p.A381S,DMRT2:NM_181872:exon4:c.G1663T:p.A555S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00617457212795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.34800	T	0.193	0.28210	T	0.441	0.35913	B	0.056	0.26147	B	0.002765	0.35968	N	0.265707	0.870723	0.81001	D	0.975	0.24501	L	1.74	0.26301	T	-0.24	0.10833	N	0.273	0.31140	-1.0539	0.13332	T	0.037	0.15770	T	10	0.15750635	0.29640	T	0.006175	0.16170	T	0.062	0.17934	0.177	0.08379	0.273938319068	0.27005	0.052753238788938873	0.05217	0.0177981594944	0.01746	0.477869033813	0.35764	T	0.083539	0.37078	T	-0.126483	0.32067	T	-0.419461	0.31137	T	0.486542445415382	0.32137	T	0.80242	0.44873	T	0.060081664	0.12286	0.085127935	0.19634	0.060081664	0.12285	0.085127935	0.19633	-2.596	0.06473	T	.	.	0.089	0.19720	B	.;.;.	.;.;.	3.793391	0.54616	23.5	0.98765693963105261	0.45893	0.94527	0.61454	D	AEFBI	0.587395	0.58506	D	0.0904854481886065	0.46019	2.848932	0.283093549421486	0.54551	3.619846	0.988889190999646	0.31658	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.94	5.94	0.96165	3.019000	0.49318	10.015000	0.83111	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1455:0.0:0.8545:0.0	10.411	0.43476	872	0.31118	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1360.44	39	chr9	1057250	.	G	T	1360.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.668;DP=366;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=1.54;SOR=0.667	GT:AD:DP:GQ:PL	0/1:60,59:119:99:1371,0,1419	6	0	1	0
chr9	2718128	2718128	C	T	exonic	KCNV2	.	nonsynonymous SNV	KCNV2:NM_133497:exon1:c.C389T:p.T130I	Retinal cone dystrophy 3B, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	901812	not_provided|Cone_dystrophy_with_supernormal_rod_response	MedGen:C3661900|MONDO:MONDO:0012475,MedGen:C1835897,OMIM:610356,Orphanet:209932	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.333	.	.	0.00219649	0.0012	0	0	0	0	0	0	0.0070	0.000718	111	154602	rs541196988	0.0004	0.0004	0.0002	0.0006	0.0066	0.0004	0.0004	0.0061	0.0060	2.994e-05	0	0	0	0	0	5.412e-06	0.0006	0.0066	0.0003	0.0003	0.0002	0.0005	0.0101	0.0003	0.0002	0.0079	0.0071	2.405e-05	0	0	0	0	0	0	0	0	0.0101	0.077	0.34095	T	0.184	0.29056	T	0.726	0.42471	P	0.548	0.49136	P	0.002395	0.36650	N	0.321094	0.880889	0.35748	D	2.35	0.67516	M	-1.08	0.77078	T	-3.37	0.66665	D	0.483	0.51761	-0.1502	0.78911	T	0.451	0.78515	T	10	0.010885537	0.00240	T	.	.	.	0.333	0.65522	0.345	0.33950	0.737052393128	0.73470	0.7889918371642377	0.78851	0.0344820302505	0.03621	0.290073364973	0.08934	T	0.683107	0.90715	D	-0.330519	0.06073	T	-0.244794	0.50328	T	0.16643672513056	0.18334	T	0.715328	0.32778	T	0.2765178	0.50713	0.39982307	0.64535	0.2765178	0.50712	0.39982307	0.64535	-7.853	0.60064	D	.	.	0.174	0.38172	B	.	.	2.904428	0.38503	20.8	0.99729875145327129	0.82690	0.95055	0.63274	D	AEFDBI	0.477837	0.52065	N	0.15176638691891	0.48896	3.096265	0.139397250672186	0.46583	2.90195	0.668984900781665	0.22354	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.07	3.23	0.36150	2.204000	0.42397	0.627000	0.20189	0.599000	0.40250	0.988000	0.36536	0.000000	0.08366	0.915000	0.45038	0.0:0.8491:0.0:0.1509	10.996	0.46795	900	0.24599	Potassium channel tetramerisation-type BTB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	585.44	38	chr9	2718128	.	C	T	585.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.044;DP=285;ExcessHet=0;FS=4.307;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.69;SOR=0.287	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	6	0	1	0
chr9	3247940	3247940	A	G	exonic	RFX3	.	nonsynonymous SNV	RFX3:NM_002919:exon15:c.T2060C:p.M687T	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.0145938366805	0.0002	.	0.0001	0.0007	0	0	0	0.0001	0	0	0.0001229	19	154602	rs142651613	8.556e-05	8.551e-05	7.084e-05	0.0001	0.0036	7.317e-05	6.82e-05	0.0024	0.0021	0.0005	4.472e-05	0	0	0	0.0036	6.296e-05	0.0002	4.637e-05	0.0002	0.0002	0.0003	0.0002	0.0007	0.0002	0.0002	0.0005	0.0004	0.0007	0	6.539e-05	0	0	0	0.0034	0.0001	0.0005	0	0.0	0.91255	D	.	.	.	0.004	0.12183	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	.	.	.	0.35	0.58029	T	1.01	0.01387	N	0.189	0.20660	-1.0265	0.21593	T	0.086	0.33382	T	8	0.028851569	0.01014	T	0.014594	0.34806	T	0.025	0.05312	.	.	0.0675242888579	0.06100	.	.	.	.	.	.	.	.	.	.	-0.465736	0.00905	T	-0.541475	0.18151	T	0.0679720212323733	0.08364	T	0.237576	0.03341	T	.	.	.	.	.	.	.	.	-1.847	0.02653	T	.	.	0.086	0.10787	B	.	.	0.279664	0.06568	3.054	0.57940168201801856	0.05880	0.20072	0.20904	N	AEFBI	0.050105	0.08725	N	-0.901370223594901	0.10810	0.5184411	-0.946945259145271	0.10994	0.5573703	0.111058720252293	0.16649	0.554377	0.28877	0	0.601575	0.49859	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	4.49	1.82	0.24209	0.661000	0.24706	0.857000	0.22192	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.526000	0.29613	0.619:0.1624:0.0:0.2187	5.339	0.15280	801	0.44448	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1861.45	35	chr9	3247940	.	A	G	1861.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.231;DP=319;ExcessHet=0;FS=1.386;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=-0.969;SOR=0.825	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1133	6	0	1	0
chr9	5832840	5832840	C	T	exonic	ERMP1	.	nonsynonymous SNV	ERMP1:NM_024896:exon1:c.G188A:p.G63D	.	435	1038	47	2	0	51	0.0239774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	0.00439297	0.0159	0	0.0396	0	0.0526	0.0191	0.0172	0.0143	0.0043466	672	154602	rs62638713	0.0093	0.0090	0.0092	0.0094	0.0254	0.0092	0.0091	0.0217	0.0204	0.0016	0.0054	0.0009	3.25e-05	0.0047	0.0254	0.0100	0.0079	0.0121	0.0059	0.0059	0.0062	0.0056	0.0106	0.0056	0.0054	0.0089	0.0087	0.0017	0	0.0043	0.0014	0	0.0036	0.0171	0.0095	0.0066	0.0106	0.266	0.16251	T	0.69	0.05920	T	0.019	0.17989	B	0.01	0.14941	B	0.142589	0.18239	N	0.458821	0.999983	0.18198	N	0	0.06538	N	0.98	0.42122	T	-0.03	0.07444	N	0.183	0.19861	-1.0601	0.11731	T	0.019	0.07800	T	10	0.004243642	0.00085	T	.	.	.	0.021	0.04004	.	.	0.152612264143	0.14878	0.5784803817705325	0.57777	1.05125465116	0.76159	0.825586915016	0.85886	D	0.013723	0.11817	T	-0.604661	0.00136	T	-0.630299	0.10392	T	0.0105604246406136	0.00147	T	0.342666	0.07446	T	0.032854058	0.03392	0.061487466	0.11881	0.032854058	0.03391	0.061487466	0.11881	-5.847	0.44982	T	.	.	0.124	0.26106	B	.	.	1.773328	0.22548	15.67	0.98681839479498568	0.44624	0.40144	0.26371	N	ALL	0.041827	0.06411	N	-1.09074595480116	0.06812	0.314695	-1.08348989215683	0.08025	0.3928126	0.999999995902894	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.519653	0.09787	0	0.71	0.69187	0	.	.	3.39	-1.32	0.08721	-0.520000	0.06338	.	.	-0.375000	0.05424	0.719000	0.28811	0.000000	0.08366	0.007000	0.07825	0.2528:0.2195:0.4238:0.1039	2.659	0.04714	516	0.74704	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019027	0.000000	0.014577	0.039877	0.050000	0.034483	0.019355	0.000000	0.07143	888.49	34	chr9	5832840	.	C	T	888.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.343;DP=234;ExcessHet=0;FS=1.17;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.51;ReadPosRankSum=-0.79;SOR=0.525	GT:AD:DP:GQ:PL	0/1:15,33:48:99:899,0,379	6	0	1	0
chr9	8485885	8485885	T	C	exonic	PTPRD	.	nonsynonymous SNV	PTPRD:NM_001377958:exon18:c.A2932G:p.T978A,PTPRD:NM_001378058:exon18:c.A2932G:p.T978A,PTPRD:NM_002839:exon28:c.A2932G:p.T978A	.	428	1087	7	0	0	7	0.00320954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.018855501301	0.0005	0.000599042	0.0003	0.0004	0.0005	0	0	0.0003	0.0022	0	0.0002523	39	154602	rs139259906	0.0003	0.0003	0.0002	0.0003	0.0049	0.0002	0.0002	0.0034	0.0030	0.0004	0.0005	0	0	0	0.0049	0.0002	0.0007	0.0001	0.0003	0.0003	0.0002	0.0003	0.0007	0.0002	0.0002	0.0004	0.0003	0.0002	0	0.0007	0	0	0	0.0034	0.0002	0.0009	0	0.241	0.17643	T	0.688	0.05958	T	0.441	0.35913	B	0.404	0.44625	B	0.000000	0.84330	D	0.049281	0.999959	0.81001	D	0.95	0.23787	L	0.33	0.58323	T	-0.33	0.12472	N	0.315	0.35727	-0.8841	0.49431	T	0.191	0.54374	T	9	0.03077069	0.01206	T	0.018856	0.41058	T	0.047	0.12962	.	.	0.216943180021	0.21308	0.37168234090399627	0.37082	.	.	0.328218221664	0.14665	T	0.092035	0.38921	T	-0.317459	0.07107	T	-0.353235	0.38835	T	0.00478057330474257	0.00051	T	.	.	.	0.0818226	0.18821	0.07537629	0.16589	0.0818226	0.18820	0.07537629	0.16588	-5.638	0.43138	T	.	.	0.077	0.06295	B	.;.;.	.;.;.	2.446026	0.31491	18.76	0.96052369682002114	0.28567	0.85092	0.44197	D	AEFGBCI	0.709516	0.66358	D	-0.0843858485772074	0.38076	2.22466	0.0501453697458789	0.42080	2.538941	0.999578175038588	0.40495	0.719381	0.83141	0	0.573888	0.26702	0	0.723133	0.82415	0	0.564101	0.26826	0	.	.	5.48	4.33	0.51083	2.355000	0.43761	1.763000	0.28569	-0.121000	0.13915	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.1655:0.0:0.0:0.8345	10.910	0.46316	610	0.67008	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.010101	0.009511	0.005848	0.000000	0.000000	0.006098	0.000000	0.1429	2352.65	38	chr9	8485885	.	T	C	2352.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.271;DP=323;ExcessHet=0.3476;FS=0.579;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=0.038;SOR=0.644	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	2	0
chr9	12775846	12775846	G	T	exonic	LURAP1L	.	nonsynonymous SNV	LURAP1L:NM_203403:exon1:c.G131T:p.G44V	.	330	1191	1	0	0	1	0.000419639	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.011572766489	.	.	2.61e-05	0	0	0	0	2.478e-05	0.0017	0	1.94e-05	3	154602	rs780163680	5.732e-05	5.814e-05	5.899e-05	5.561e-05	0.0002	4.72e-05	4.342e-05	5.278e-05	4.85e-05	3.018e-05	2.383e-05	0	2.549e-05	0	0.0002	6.512e-05	5.018e-05	4.691e-05	2.934e-05	2.645e-05	2.846e-05	3.029e-05	4.785e-05	9.86e-06	5.62e-06	1.27e-05	6.52e-06	2.724e-05	0	0	0	0	0	0	4.785e-05	0	0	0.019	0.50132	D	0.031	0.53788	D	.	.	.	.	.	.	0.473093	0.04937	N	1.334730	0.983739	0.40052	D	.	.	.	0.93	0.44065	T	-0.64	0.18670	N	0.227	0.25499	-0.9622	0.38761	T	0.074	0.29865	T	10	0.1415219	0.26890	T	0.011573	0.29327	T	0.051	0.14325	.	.	0.376039117802	0.37211	0.22989552219115447	0.22904	0.0355889908845	0.03753	0.529320776463	0.42938	T	.	.	.	-0.256198	0.13349	T	-0.469876	0.25529	T	0.13212089240551	0.15576	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.22897	B	.	.	1.595122	0.20400	14.73	0.99074976819712957	0.51810	0.76245	0.37379	D	ALL	0.210593	0.33647	N	-0.377152442169493	0.26286	1.433376	-0.249143728069807	0.29801	1.672599	0.999999888486622	0.74766	0.437478	0.07067	0	0.475579	0.06741	0	0.606814	0.37721	0	0.56214	0.19341	0	.	.	4.36	2.44	0.28875	0.821000	0.26993	0.000000	0.13247	0.590000	0.31872	0.997000	0.40164	0.467000	0.25033	0.187000	0.21511	0.1125:0.0:0.6672:0.2203	4.571	0.11602	893	0.26510	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	524.45	58	chr9	12775846	.	G	T	524.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.377;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.04;ReadPosRankSum=0.174;SOR=0.561	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,107,1372	6	0	1	0
chr9	12775862	12775862	-	GGTGGCGGCGGC	exonic	LURAP1L	.	nonframeshift insertion	LURAP1L:NM_203403:exon1:c.147_148insGGTGGCGGCGGC:p.G55_C56insGGGG	.	365	134	262	599	162	1622	0.844907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs139315731	7.348e-05	0.0001	7.28e-05	7.418e-05	0.0002	6.137e-05	5.721e-05	9.444e-05	7.483e-05	0.0002	5.748e-05	0	0.0001	0	0	6.421e-05	0.0001	0.0002	5.985e-05	6.57e-05	5.192e-05	6.818e-05	0.0002	3.111e-05	2.234e-05	3.282e-05	1.937e-05	9.793e-05	0	6.623e-05	0	0	0	0	4.44e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	11996.6	37	chr9	12775862	.	T	TGGTGGCGGCGGC	11996.6	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.877;DP=426;ExcessHet=0;FS=5.029;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=27.97;ReadPosRankSum=0.032;SOR=0.345	GT:AD:DP:GQ:PL	0/1:0,35:72:99:3140,1514,1508	6	0	1	0
chr9	13224442	13224442	C	A	exonic	MPDZ	.	nonsynonymous SNV	MPDZ:NM_001261406:exon4:c.G325T:p.G109C,MPDZ:NM_001261407:exon4:c.G325T:p.G109C,MPDZ:NM_001330637:exon4:c.G325T:p.G109C,MPDZ:NM_001375413:exon4:c.G325T:p.G109C,MPDZ:NM_001375416:exon4:c.G325T:p.G109C,MPDZ:NM_001375417:exon4:c.G325T:p.G109C,MPDZ:NM_001375419:exon4:c.G325T:p.G109C,MPDZ:NM_001375420:exon4:c.G325T:p.G109C,MPDZ:NM_001375422:exon4:c.G325T:p.G109C,MPDZ:NM_001375424:exon4:c.G325T:p.G109C,MPDZ:NM_001375425:exon4:c.G325T:p.G109C,MPDZ:NM_001375426:exon4:c.G325T:p.G109C,MPDZ:NM_001375427:exon4:c.G325T:p.G109C,MPDZ:NM_001378778:exon4:c.G325T:p.G109C,MPDZ:NM_003829:exon4:c.G325T:p.G109C,MPDZ:NM_001375418:exon5:c.G325T:p.G109C,MPDZ:NM_001375421:exon5:c.G325T:p.G109C,MPDZ:NM_001375423:exon5:c.G325T:p.G109C	Hydrocephalus, nonsyndromic, autosomal recessive 2, Autosomal recessive	430	1079	12	1	0	14	0.00644567	.	.	.	700851	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.080	.	0.0051	0.00359425	0.0065	0.0010	0.0006	0	0.0338	0.0074	0.0122	0.0022	0.0059443	919	154602	rs61753782	0.0063	0.0063	0.0064	0.0062	0.0059	0.0062	0.0061	0.0058	0.0058	0.0010	0.0007	0.0140	0	0.0291	0.0026	0.0059	0.0061	0.0025	0.0066	0.0066	0.0053	0.0081	0.0070	0.0063	0.0062	0.0065	0.0062	0.0006	0	0.0015	0.0150	0	0.0387	0	0.0070	0.0014	0.0048	0.08	0.33585	T	0.053	0.47581	T	0.99	0.63424	D	0.805	0.58399	P	0.666445	0.10381	N	0.818882	1	0.08975	N	1.87	0.49600	L	2.85	0.10975	T	-1.72	0.41046	N	0.254	0.33904	-1.0309	0.20163	T	0.013	0.05273	T	10	0.004137218	0.00081	T	.	.	.	0.080	0.23350	.	.	0.201204373187	0.19734	0.3860454334519855	0.38519	.	.	0.259814798832	0.04868	T	0.057352	0.30543	T	-0.62034	0.00109	T	-0.656745	0.08488	T	0.0157164782314785	0.00363	T	0.634537	0.24876	T	0.12235089	0.28754	0.06814197	0.14193	0.08906875	0.20798	0.06814197	0.14193	-5.095	0.37855	T	.	.	0.098	0.16099	B	.;.;.;.;.;.	.;.;.;.;.;.	1.081421	0.14642	11.20	0.9910216269503388	0.52496	0.14523	0.18448	N	AEFBCI	0.123338	0.23890	N	-0.721161791486045	0.15427	0.7773987	-0.902604015683666	0.12033	0.6166177	0.130719522019321	0.17084	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.72	-2.87	0.05359	-0.817000	0.04579	-1.458000	0.05393	-0.805000	0.03119	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.2336:0.2794:0.0:0.487	4.865	0.12966	612	0.66786	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	911.45	35	chr9	13224442	.	C	A	911.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.41;DP=239;ExcessHet=0;FS=1.938;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=-0.281;SOR=0.958	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1072	6	0	1	0
chr9	14770785	14770785	C	A	exonic	FREM1	.	nonsynonymous SNV	FREM1:NM_001177704:exon3:c.G487T:p.A163S,FREM1:NM_001370058:exon3:c.G487T:p.A163S,FREM1:NM_001370061:exon3:c.G487T:p.A163S,FREM1:NM_001379081:exon26:c.G4879T:p.A1627S,FREM1:NM_144966:exon27:c.G4879T:p.A1627S	Bifid nose with or without anorectal and renal anomalies;Manitoba oculotrichoanal syndrome, Autosomal recessive;Trigonocephaly 2, Autosomal dominant	1	1515	5	1	0	7	0.00230491	.	.	.	901624	not_provided|Oculotrichoanal_syndrome|FREM1-related_disorder	MedGen:C3661900|MONDO:MONDO:0009560,MedGen:C1855425,OMIM:248450,Orphanet:2717|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.207	0.0150305045891	8.1e-05	0.000199681	0.0009	0.0001	0	0	0	0.0002	0.0012	0.0054	0.0006339	98	154602	rs370198850	0.0004	0.0004	0.0002	0.0006	0.0052	0.0004	0.0004	0.0048	0.0047	0	8.979e-05	3.832e-05	0	0	0.0005	0.0001	0.0003	0.0052	0.0003	0.0003	0.0001	0.0004	0.0056	0.0002	0.0002	0.0039	0.0034	2.406e-05	0	6.549e-05	0	0	0	0.0034	0.0001	0.0005	0.0056	0.356	0.20456	T	0.071	0.43531	T	0.987	0.61912	D	0.893	0.63340	P	0.000046	0.53742	D	0.159950	0.99986	0.50595	D	2.38	0.68558	M	0.93	0.44065	T	-1.78	0.43334	N	0.47	0.54409	-0.9151	0.46207	T	0.203	0.55989	T	10	0.017482787	0.00373	T	0.015031	0.35522	T	0.207	0.49555	.	.	0.390220360785	0.38632	0.3338260838981546	0.33295	.	.	0.334422290325	0.15601	T	0.11292	0.42956	T	-0.441808	0.01262	T	-0.406862	0.32587	T	0.0497676944314715	0.05461	T	0.651635	0.33655	T	0.13605459	0.31555	0.18145664	0.41010	0.15677375	0.35361	0.15580149	0.36503	-4.428	0.29934	T	0.1742536100577756	0.22121	0.098	0.16451	B	.;.;.	.;.;.	2.672353	0.34844	19.74	0.98844987966794873	0.47186	0.97002	0.72125	D	AEFGBI	0.570168	0.57466	D	0.123049410112755	0.47541	2.978252	0.090425216506091	0.44065	2.695562	0.999990836220289	0.74766	0.516011	0.20929	0	0.563428	0.19063	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.58	5.58	0.84361	2.846000	0.47962	2.709000	0.34221	0.599000	0.40250	0.992000	0.37556	0.993000	0.31925	0.013000	0.09966	0.0:1.0:0.0:0.0	19.568	0.95396	757	0.50970	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001014	0.005155	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	469.83	26	chr9	14770785	.	C	A	469.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.042;DP=203;ExcessHet=0;FS=4.591;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-0.887;SOR=0.237	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	6	0	1	0
chr9	15723666	15723666	A	G	exonic	CCDC171	.	nonsynonymous SNV	CCDC171:NM_001355547:exon12:c.A1435G:p.M479V,CCDC171:NM_001348002:exon14:c.A1156G:p.M386V	.	532	987	2	1	0	4	0.00202224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0049	0.000798722	0.0039	0.0010	0.0014	0	0.0059	0.0057	0.0023	0.0014	0.0039003	603	154602	rs192857827	0.0049	0.0050	0.0050	0.0048	0.0057	0.0048	0.0048	0.0056	0.0055	0.0007	0.0009	0.0031	0	0.0048	0.0032	0.0057	0.0041	0.0013	0.0036	0.0036	0.0037	0.0034	0.0058	0.0033	0.0032	0.0053	0.0052	0.0010	0	0.0031	0.0020	0	0.0042	0	0.0058	0.0024	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	277.27	31	chr9	15723666	.	A	G	277.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.52;DP=167;ExcessHet=0;FS=1.446;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.94;ReadPosRankSum=-0.099;SOR=1.179	GT:AD:DP:GQ:PL	0/0:28,0:28:84:0,84,824	5	0	1	1
chr9	17394996	17394996	C	T	exonic	CNTLN	.	nonsynonymous SNV	CNTLN:NM_001365029:exon15:c.C2542T:p.H848Y,CNTLN:NM_017738:exon15:c.C2542T:p.H848Y	.	426	1078	15	3	0	21	0.0096463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	.	0.0057	0.00359425	0.0058	0.0004	0.0038	0	0.0127	0.0079	0.0089	0.0024	0.0058279	901	154602	rs144166918	0.0068	0.0068	0.0069	0.0066	0.0071	0.0067	0.0066	0.0069	0.0069	0.0009	0.0051	0.0203	2.519e-05	0.0116	0.0061	0.0071	0.0059	0.0031	0.0052	0.0052	0.0050	0.0054	0.0069	0.0049	0.0048	0.0059	0.0055	0.0007	0	0.0069	0.0202	0	0.0144	0.0136	0.0062	0.0038	0.0017	0.014	0.53172	D	0.044	0.49663	D	0.264	0.31602	B	0.055	0.25995	B	.	.	.	.	0.95295	0.37808	D	2.43	0.70455	M	2.21	0.18414	T	-1.33	0.33197	N	0.436	0.47487	-1.1197	0.02350	T	0.066	0.27364	T	9	0.005052775	0.00109	T	.	.	.	0.097	0.27909	.	.	0.0611884634855	0.05136	0.08164205980192901	0.08099	.	.	0.426689594984	0.28755	T	.	.	.	-0.404872	0.02151	T	-0.348657	0.39359	T	0.0438886258736104	0.04401	T	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-5.253	0.39476	T	.	.	0.175	0.38281	B	.	.	4.184124	0.63012	24.5	0.99773894908934191	0.86174	0.93785	0.59184	D	AEFBI	0.523727	0.54721	D	0.423311050390687	0.62706	4.491064	0.530791572137921	0.70071	5.451773	0.99999999363096	0.74766	0.730579	0.87903	0	0.573888	0.26702	0	0.749866	0.98131	0	0.635551	0.53088	0	.	.	5.93	5.93	0.95888	6.601000	0.74015	7.731000	0.67736	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.942	0.97166	651	0.62880	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.002717	0.002924	0.000000	0.025862	0.006098	0.011364	0.07143	203.63	23	chr9	17394996	.	C	T	203.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.204;DP=250;ExcessHet=0;FS=4.33;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=-0.517;SOR=1.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1208:.	6	0	1	0
chr9	17415849	17415849	A	G	exonic	CNTLN	.	nonsynonymous SNV	CNTLN:NM_001365029:exon17:c.A2855G:p.Q952R,CNTLN:NM_017738:exon17:c.A2858G:p.Q953R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00331855763938	0.0037	0.000199681	0.0033	0.0006	0.0004	0.0001	0.0012	0.0054	0.0045	0.0012	0.0033311	515	154602	rs41268971	0.0045	0.0046	0.0046	0.0045	0.0055	0.0044	0.0044	0.0054	0.0054	0.0006	0.0006	0.0016	0.0001	0.0015	0	0.0055	0.0033	0.0011	0.0027	0.0027	0.0031	0.0023	0.0051	0.0025	0.0024	0.0047	0.0045	0.0009	0	0.0007	0.0023	0	0.0009	0	0.0051	0.0014	0.0004	0.049	0.39820	D	0.33	0.18560	T	0.557	0.38282	P	0.224	0.37970	B	.	.	.	.	0.999972	0.18612	N	2.24	0.63355	M	2.26	0.17596	T	-0.31	0.12099	N	0.196	0.21580	-1.0736	0.08639	T	0.049	0.20829	T	9	0.006874472	0.00156	T	0.003319	0.07390	T	0.040	0.10527	.	.	0.0401082797425	0.02173	0.07315621065529385	0.07252	.	.	0.340176820755	0.16465	T	.	.	.	-0.568721	0.00225	T	-0.578674	0.14663	T	0.0296378005295992	0.01933	T	0.608739	0.23025	T	.	.	.	.	.	.	.	.	-3.526	0.16798	T	.	.	0.085	0.10014	B	.	.	1.836113	0.23329	15.97	0.98034917253859333	0.37743	0.09860	0.15519	N	AEFI	0.090371	0.18312	N	-0.329407936429418	0.28035	1.543073	-0.367065973227395	0.25986	1.433	0.176133071420884	0.17806	0.638212	0.43195	0	0.573888	0.26702	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	4.36	3.12	0.34986	0.502000	0.22302	4.094000	0.41823	0.756000	0.94297	0.014000	0.18986	0.937000	0.28687	0.066000	0.16387	0.823:0.0:0.0:0.177	8.279	0.31052	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	326.27	28	chr9	17415849	.	A	G	326.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.259;DP=193;ExcessHet=0;FS=1.449;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=0.154;SOR=1.061	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1022	5	0	1	1
chr9	18622276	18622276	G	A	exonic	ADAMTSL1	.	nonsynonymous SNV	ADAMTSL1:NM_001040272:exon5:c.G508A:p.V170I,ADAMTSL1:NM_052866:exon5:c.G508A:p.V170I	.	430	1071	20	1	0	22	0.0101664	.	.	.	3208148	ADAMTSL1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.092	0.00558072628727	0.0019	0.00219649	0.0029	0.0004	0.0029	0.0001	0.0035	0.0032	0.0044	0.0048	0.0027619	427	154602	rs146511703	0.0024	0.0024	0.0023	0.0026	0.0120	0.0024	0.0023	0.0097	0.0089	0.0004	0.0025	0.0007	7.559e-05	0.0018	0.0120	0.0024	0.0023	0.0051	0.0022	0.0022	0.0021	0.0023	0.0048	0.0020	0.0019	0.0033	0.0028	0.0004	0	0.0028	0.0009	0	0.0022	0.0204	0.0031	0.0019	0.0048	0.12	0.31987	T	0.083	0.41405	T	0.001	0.13644	B	0.0	0.10090	B	.	.	.	.	0.976175	0.26481	N	1.095	0.27400	L	-0.31	0.68030	T	-0.72	0.25770	N	0.168	0.24883	-0.9663	0.37954	T	0.127	0.43380	T	9	0.0058428645	0.00130	T	0.005581	0.14409	T	0.092	0.26621	.	.	0.459818148978	0.45609	0.15861690945872592	0.15782	0.0558040157175	0.06170	0.31782501936	0.13091	T	0.035502	0.23742	T	-0.507669	0.00517	T	-0.501467	0.22195	T	0.0204572970002746	0.00745	T	0.790821	0.43180	T	0.042745262	0.06540	0.07514392	0.16512	0.042745262	0.06540	0.07514392	0.16511	-6.548	0.52238	T	.	.	0.083	0.09723	B	.;.;.;.;.	.;.;.;.;.	2.315542	0.29649	18.19	0.99393732674537361	0.62474	0.89029	0.49255	D	AEFBHCI	0.442653	0.50029	N	-0.253459625366045	0.30965	1.73169	-0.0887941676486003	0.35853	2.079185	0.999996183082164	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.63	2.68	0.30839	4.871000	0.62737	1.839000	0.29174	0.676000	0.76740	1.000000	0.71638	0.946000	0.28899	0.998000	0.85391	0.0795:0.0:0.9205:0.0	14.571	0.67803	912	0.21483	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.010101	0.010870	0.011696	0.000000	0.000000	0.006098	0.003788	0.07143	1308.45	42	chr9	18622276	.	G	A	1308.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.38;DP=314;ExcessHet=0;FS=0.693;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=0.55;SOR=0.789	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr9	18777098	18777098	G	T	exonic	ADAMTSL1	.	nonsynonymous SNV	ADAMTSL1:NM_001040272:exon19:c.G2869T:p.V957L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.0421184724726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	0	2.752e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.012	0.63918	D	0.199	0.29618	B	0.048	0.24975	B	0.197020	0.16698	N	0.621811	0.662909	0.33069	D	1.66	0.42513	L	-0.05	0.63403	T	-1.58	0.38151	N	0.411	0.45142	-0.8257	0.53575	T	0.190	0.54168	T	10	0.26787627	0.44302	T	0.042118	0.60293	D	0.120	0.33359	0.43	0.47843	0.596401026678	0.59319	0.4735615555463075	0.47275	0.0950914355222	0.10736	0.561191082001	0.47435	T	0.096903	0.39919	T	-0.0263476	0.47944	T	-0.275623	0.47250	T	0.499251295027995	0.32602	T	0.89781	0.64256	D	0.0944867	0.22216	0.10768103	0.25927	0.0944867	0.22216	0.10768103	0.25927	-5.36	0.40533	T	.	.	0.180	0.39134	B	.	.	3.487674	0.48738	22.7	0.991829740736618	0.54730	0.96699	0.70468	D	AEFBI	0.606567	0.59686	D	-0.0132901928208036	0.41253	2.464275	0.10702691612847	0.44906	2.763485	0.999985654949842	0.51787	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	3.571000	0.53586	11.857000	0.98226	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.139000	0.19909	0.1449:0.0:0.8551:0.0	10.911	0.46316	884	0.28482	Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	300.53	35	chr9	18777098	.	G	T	300.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.295;DP=284;ExcessHet=0;FS=1.471;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-1.287;SOR=1.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:71,0:71:99:.:.:0,120,1800:.	6	0	1	0
chr9	19082914	19082914	G	A	exonic	HAUS6	.	nonsynonymous SNV	HAUS6:NM_001270890:exon8:c.C829T:p.P277S,HAUS6:NM_017645:exon8:c.C829T:p.P277S	.	.	.	.	.	.	.	.	.	.	.	2764615	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.779	0.333368715769	.	0.00119808	0.0009	0	0	0	0	0	0	0.0069	0.0006921	107	154602	rs199750812	0.0003	0.0004	0.0002	0.0005	0.0059	0.0003	0.0003	0.0054	0.0052	0	0	0	0	0	0.0002	9.359e-07	0.0002	0.0059	0.0001	0.0001	3.857e-05	0.0002	0.0037	7.577e-05	6.282e-05	0.0024	0.0020	0	0	0	0	0	0	0	0	0	0.0037	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	2.62	0.76659	M	-4.07	0.96562	D	-6.75	0.94352	D	0.846	0.84609	1.076	0.98750	D	0.937	0.97917	D	10	0.04056588	0.02637	T	0.333369	0.91814	D	0.779	0.92623	0.568	0.69034	0.991634229972	0.99154	0.5900065035087356	0.58930	0.205483677471	0.22968	0.438342273235	0.30351	T	0.251604	0.71728	T	0.010357	0.53072	T	0.244435	0.85357	D	0.170007786944444	0.18581	T	0.808919	0.47377	T	0.8578715	0.87924	0.8098684	0.88892	0.8578715	0.87925	0.8098684	0.88892	-9.857	0.73051	D	.	.	0.759	0.75438	P	.;.	.;.	4.668752	0.74591	26.2	0.99902992758571607	0.97426	0.94693	0.62006	D	AEFGBI	0.636720	0.61577	D	0.846937218282448	0.88933	9.768699	0.812515154168549	0.90651	10.50474	0.999991470095481	0.74766	0.562547	0.31514	0	0.601575	0.49859	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	5.6	5.6	0.84997	7.166000	0.77118	9.921000	0.82504	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	17.117	0.86569	643	0.63827	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000525	0.000000	0.000000	0.003846	0.000000	0.000000	0.000000	0.000000	0.07143	793.45	39	chr9	19082914	.	G	A	793.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.398;DP=241;ExcessHet=0;FS=2.105;MLEAC=1;MLEAF=0.071;MQ=57.36;MQRankSum=0.383;QD=12.59;ReadPosRankSum=-1.635;SOR=0.656	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1114	6	0	1	0
chr9	19123608	19123608	C	T	exonic	PLIN2	.	nonsynonymous SNV	PLIN2:NM_001122:exon4:c.G266A:p.R89K	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00450961062856	.	.	8.264e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs745938132	3.42e-06	4.104e-06	0	6.875e-06	0.0003	1e-06	7.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.02639	T	0.003	0.11197	B	0.009	0.14300	B	0.000011	0.62929	D	0.154989	0.529753	0.31501	N	0.27	0.09956	N	3.62	0.04399	T	1.0	0.01761	N	0.154	0.15888	-1.0062	0.28095	T	0.007	0.02321	T	10	0.13261768	0.25241	T	0.00451	0.11094	T	0.187	0.46274	0.585	0.71245	0.378148810121	0.37422	0.4906652354338742	0.48986	0.0333552641458	0.03491	0.363964140415	0.19962	T	0.07805	0.35799	T	-0.150881	0.28174	T	-0.454506	0.27201	T	0.190338685959627	0.19864	T	0.788221	0.42759	T	0.06559524	0.14035	0.068901	0.14448	0.06559524	0.14035	0.068901	0.14447	-1.705	0.02242	T	.	.	0.068	0.07507	B	.;.;.;.	.;.;.;.	1.230921	0.16258	12.42	0.87995015863333848	0.17637	0.81645	0.41007	D	AEFDBHCI	0.261809	0.37968	N	-0.318039710926769	0.28463	1.570128	-0.0581230694635351	0.37140	2.170669	0.999999989903047	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.94	5.94	0.96165	1.384000	0.34003	0.003000	0.13321	0.549000	0.26987	1.000000	0.71638	0.472000	0.25058	0.950000	0.49671	0.0:0.8113:0.0:0.1887	7.803	0.28351	671	0.60868	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1408.44	113	chr9	19123608	.	C	T	1408.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.76;DP=290;ExcessHet=0;FS=1.546;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.063;SOR=0.525	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1290	6	0	1	0
chr9	20414312	20414312	-	CTG	exonic	MLLT3	.	nonframeshift insertion	MLLT3:NM_001286691:exon5:c.524_525insCAG:p.S187_T188insS,MLLT3:NM_004529:exon5:c.533_534insCAG:p.S190_T191insS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489057703	0.0011	0.0012	0.0010	0.0013	0.0066	0.0011	0.0011	0.0060	0.0057	0.0021	0.0018	0.0022	0.0066	0.0005	0.0018	0.0006	0.0017	0.0039	0.0034	0.0034	0.0035	0.0033	0.0063	0.0031	0.0030	0.0045	0.0039	0.0046	0	0.0037	0.0051	0.0024	0.0006	0.0070	0.0028	0.0049	0.0063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	708.42	39	chr9	20414312	.	A	ACTG	708.42	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.556;DP=247;ExcessHet=0;FS=1.463;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.15;ReadPosRankSum=-1.794;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1133:.	6	0	1	0
chr9	21206893	21206893	T	G	exonic	IFNA10	.	nonsynonymous SNV	IFNA10:NM_002171:exon1:c.A205C:p.N69H	.	416	1101	5	0	0	5	0.00226552	.	.	.	2259823	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00410439893296	0.0005	0.000599042	0.0002	0.0013	8.643e-05	0.0002	0	6.019e-05	0	0.0004	0.0002264	35	154602	rs1062570	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0009	0.0008	0.0012	0.0003	0	0.0002	5.616e-05	0.0003	0.0001	0.0004	0.0003	0.0004	0.0005	0.0005	0.0003	0.0012	0.0004	0.0003	0.0010	0.0009	0.0012	0	0	0	0.0004	0.0002	0	0.0001	0	0.0008	0.107	0.29554	T	0.167	0.30729	T	0.001	0.07471	B	0.01	0.14941	B	0.121662	0.02731	N	1.616840	1	0.08975	N	1.66	0.42513	L	3.94	0.03408	T	-1.76	0.41618	N	0.103	0.08646	-0.9386	0.42837	T	0.012	0.04605	T	10	0.01213029	0.00262	T	0.004104	0.09806	T	0.023	0.04649	.	.	0.211220785272	0.20719	0.08651359078539322	0.08585	0.0961421984922	0.10851	0.351623892784	0.18161	T	0.001574	0.01012	T	-0.670068	0.00055	T	-0.770661	0.02746	T	0.00514924248679566	0.00056	T	0.0123321	0.00069	T	0.090632014	0.21214	0.041635633	0.04779	0.090632014	0.21214	0.041635633	0.04778	-5.436	0.41265	T	.	.	0.073	0.04764	B	.	.	0.208184	0.05921	2.361	0.91462894195091737	0.20734	0.00935	0.03619	N	AEFI	0.026873	0.02094	N	-1.14072345868966	0.05934	0.2718551	-1.28147562094299	0.04681	0.2213609	0.00412981187260212	0.10426	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.75	-5.86	0.02114	-0.752000	0.04902	.	.	0.406000	0.20596	0.000000	0.06391	0.000000	0.08366	0.799000	0.37691	0.0:0.3099:0.4609:0.2292	6.185	0.19708	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000531	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	3164.44	112	chr9	21206893	.	T	G	3164.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.866;DP=773;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.53;MQRankSum=-0.627;QD=10.95;ReadPosRankSum=0.926;SOR=0.682	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1147	6	0	1	0
chr9	26996392	26996392	T	C	exonic	LRRC19	.	nonsynonymous SNV	LRRC19:NM_022901:exon4:c.A703G:p.T235A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00656396087267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.38863	T	0.193	0.28210	T	0.0	0.02946	B	0.001	0.04355	B	0.493386	0.05049	N	1.269810	0.999999	0.08975	N	1.3	0.32576	L	0.63	0.53088	T	-0.84	0.22944	N	0.108	0.09349	-1.0232	0.22671	T	0.083	0.32556	T	10	0.08307931	0.13781	T	0.006564	0.17301	T	0.042	0.11227	0.252	0.19067	0.407767136052	0.40396	0.33445682481864303	0.33358	0.0206115458999	0.02030	0.330926328897	0.15074	T	0.004718	0.04133	T	-0.229715	0.16688	T	-0.567746	0.15657	T	0.0395897030830383	0.03617	T	0.266473	0.04381	T	0.054214586	0.10369	0.059012014	0.11002	0.054214586	0.10369	0.059012014	0.11001	-4.783	0.34392	T	.	.	0.075	0.05711	B	.	.	0.682005	0.10504	7.219	0.89593283174994298	0.18931	0.07167	0.13193	N	AEFI	0.087509	0.17743	N	-0.980587776746416	0.09018	0.4251426	-0.951184074345337	0.10895	0.5517199	0.00515278449249875	0.10845	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.17	2.74	0.31352	0.156000	0.16200	0.271000	0.16657	-0.119000	0.14319	0.001000	0.13787	0.013000	0.20296	0.345000	0.25546	0.1524:0.0836:0.0:0.764	5.479	0.16009	493	0.76500	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr9	26996392	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1077	6	1	0	0
chr9	32633038	32633038	C	T	exonic	TAF1L	.	nonsynonymous SNV	TAF1L:NM_153809:exon1:c.G2542A:p.D848N	.	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.00431399196505	0.0008	.	0.0008	0	0	0	0.0002	0.0014	0	0	0.0008603	133	154602	rs141368669	0.0013	0.0013	0.0014	0.0012	0.0016	0.0012	0.0012	0.0016	0.0016	8.961e-05	6.708e-05	0	0	0.0002	0.0003	0.0016	0.0007	0	0.0008	0.0008	0.0009	0.0007	0.0016	0.0007	0.0007	0.0014	0.0013	0.0002	0	0.0003	0	0	9.432e-05	0	0.0016	0	0	0.002	0.72154	D	0.005	0.72224	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999991	0.58761	D	2.835	0.82492	M	2.5	0.14408	T	-4.32	0.76655	D	0.371	0.41261	-1.0008	0.29688	T	0.103	0.37844	T	10	0.056660652	0.06385	T	0.004314	0.10467	T	0.217	0.51112	.	.	0.592138549	0.58891	0.6728832054054725	0.67226	0.330652215835	0.35138	0.631979703903	0.57426	T	0.196972	0.55351	T	-0.573919	0.00210	T	-0.602719	0.12584	T	0.357386459807215	0.27307	T	0.980902	0.93438	D	0.5490989	0.69906	0.46545616	0.68979	0.5490989	0.69907	0.46545616	0.68980	-12.927	0.89060	D	.	.	0.258	0.49285	B	.	.	4.703072	0.75479	26.3	0.99882901001954261	0.95892	0.71358	0.34979	D	AEFBI	0.225011	0.34917	N	0.402277582488125	0.61548	4.357392	0.201072577644591	0.49908	3.188471	0.978636893881913	0.29943	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	1.19	1.19	0.20120	5.211000	0.65052	7.527000	0.59855	0.240000	0.18237	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	7.831	0.28506	835	0.38313	Transcription initiation factor TFIID subunit 1, domain of unknown function	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1515.44	38	chr9	32633038	.	C	T	1515.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.96;DP=382;ExcessHet=0;FS=0.627;MLEAC=1;MLEAF=0.071;MQ=59.6;MQRankSum=1.68;QD=10.45;ReadPosRankSum=-0.203;SOR=0.792	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,111,1665	6	0	1	0
chr9	33366656	33366656	T	C	exonic	NFX1	.	nonsynonymous SNV	NFX1:NM_001318758:exon22:c.T3070C:p.F1024L,NFX1:NM_002504:exon22:c.T3067C:p.F1023L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.00819909915058	.	.	8.239e-05	0	8.643e-05	0	0	0	0	0.0005	6.47e-05	10	154602	rs779393131	4.378e-05	4.378e-05	6.806e-06	8.113e-05	0.0007	3.509e-05	3.193e-05	0.0006	0.0005	0	0	0	0	0	0	0	0	0.0007	4.595e-05	4.593e-05	0	9.396e-05	0.0014	2.107e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	0.005	0.63226	D	0.011	0.64786	D	0.181	0.29111	B	0.065	0.27321	B	0.000006	0.62929	D	0.110914	0.999999	0.58761	D	1.145	0.29067	L	0.83	0.47815	T	-5.56	0.86296	D	0.746	0.74553	-1.0339	0.19205	T	0.081	0.32002	T	10	0.44660816	0.58436	T	0.008199	0.21725	T	0.242	0.54781	0.624	0.75916	0.514643173473	0.51105	0.6097853858642479	0.60910	0.611504309813	0.55784	0.573382496834	0.49155	T	0.242656	0.61144	T	-0.245018	0.14715	T	-0.240297	0.50771	T	0.362626153163415	0.27512	T	0.915408	0.69775	D	0.52973396	0.68815	0.57451594	0.75353	0.52973396	0.68816	0.57451594	0.75354	-9.633	0.71684	D	.	.	0.991	0.93824	P	.	.	4.010283	0.59151	24.1	0.99858483550296651	0.93729	0.98280	0.81214	D	AEFBI	0.877822	0.80269	D	0.0959241687313661	0.46271	2.870181	0.328180133021998	0.57201	3.885122	0.999999956054624	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	6.07	6.07	0.98675	7.986000	0.87787	7.945000	0.75661	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.581	0.67881	434	0.80536	R3H domain|R3H domain|R3H domain|Transcriptional repressor NF-X1, R3H domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1952.44	36	chr9	33366656	.	T	C	1952.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.094;DP=381;ExcessHet=0;FS=4.139;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=0.909;SOR=0.467	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1348	6	0	1	0
chr9	33467154	33467154	G	A	exonic	NOL6	.	nonsynonymous SNV	NOL6:NM_022917:exon14:c.C1834T:p.R612C,NOL6:NM_139235:exon14:c.C1834T:p.R612C	.	436	1080	6	0	0	6	0.00277008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.0380854205719	7.7e-05	0.000798722	0.0005	0.0002	8.649e-05	0	0	0.0002	0.0022	0.0028	0.0004463	69	154602	rs184298169	0.0003	0.0003	0.0002	0.0004	0.0036	0.0003	0.0003	0.0025	0.0024	2.987e-05	0.0001	0.0015	0	0	0.0036	0.0001	0.0003	0.0028	0.0002	0.0002	0.0002	0.0003	0.0037	0.0002	0.0001	0.0024	0.0020	0	0	6.533e-05	0.0026	0.0002	0	0	5.88e-05	0	0.0037	0.0	0.91255	D	0.0	0.92824	D	0.999	0.90584	D	0.925	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.865	0.83145	M	0.87	0.46412	T	-7.15	0.94814	D	0.84	0.83678	-0.6962	0.60619	T	0.275	0.64670	T	10	0.023330659	0.00608	T	0.038085	0.58011	D	0.411	0.72252	.	.	0.553752920557	0.55033	.	.	0.88832483816	0.70104	0.56375181675	0.47797	T	0.205605	0.56471	T	-0.064089	0.42265	T	0.131486	0.78991	D	0.270975312328075	0.23789	T	0.973903	0.90628	D	0.86249053	0.88276	0.8530842	0.91711	0.86249053	0.88278	0.8530842	0.91712	-6.712	0.57258	T	.	.	0.214	0.44267	B	.;.;.	.;.;.	5.487050	0.91444	32	0.99946480412884253	0.99901	0.98432	0.82716	D	AEFDGBCI	0.782101	0.71349	D	0.738731481631431	0.82168	7.696767	0.731021955447537	0.84734	8.375275	0.999999960644069	0.74766	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.691587	0.68394	0	.	.	5.8	5.8	0.92081	4.076000	0.57313	10.028000	0.83159	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.061	0.97673	575	0.70088	.;Nrap protein, domain 3;Nrap protein, domain 3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.003788	0.07143	1390.63	35	chr9	33467154	.	G	A	1390.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.341;DP=275;ExcessHet=0;FS=5.203;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=1.06;SOR=0.487	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1456	6	0	1	0
chr9	34093402	34093402	G	A	exonic	DCAF12	.	nonsynonymous SNV	DCAF12:NM_015397:exon7:c.C908T:p.A303V	.	424	1081	16	1	0	18	0.00825688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471	.	0.0002	0.00399361	0.0022	0	0.0008	0	0	0.0004	0.0022	0.0139	0.001934	299	154602	rs149115505	0.0010	0.0010	0.0006	0.0015	0.0138	0.0010	0.0010	0.0131	0.0129	5.974e-05	0.0002	3.826e-05	0	0	0.0019	0.0002	0.0011	0.0138	0.0006	0.0006	0.0003	0.0009	0.0133	0.0005	0.0005	0.0107	0.0097	4.811e-05	0	0.0005	0	0	0	0	0.0002	0	0.0133	0.007	0.59928	D	0.013	0.63109	D	0.633	0.40250	P	0.118	0.32088	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.3	0.65703	M	-0.27	0.67367	T	-2.12	0.48184	N	0.921	0.92433	-0.4600	0.70067	T	0.276	0.64814	T	10	0.012073249	0.00261	T	.	.	.	0.471	0.76487	.	.	0.810726899296	0.80895	0.6850247409028064	0.68441	1.03043029366	0.75413	0.832992434502	0.87021	D	0.209426	0.56964	T	0.00687563	0.52599	T	0.248131	0.85529	D	0.0712406606931485	0.08824	T	0.960304	0.85063	D	0.2813473	0.51177	0.2866694	0.54676	0.2813473	0.51177	0.2866694	0.54675	-8.042	0.61356	D	.	.	0.817	0.78094	P	.	.	4.493645	0.70214	25.5	0.99857932726301568	0.93639	0.99295	0.94095	D	AEFDBI	0.909636	0.86652	D	0.533704854304489	0.69097	5.308765	0.627181203696604	0.76920	6.580939	0.999999999946936	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	9.225000	0.94383	11.840000	0.97786	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	17.868	0.88717	401	0.82673	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.004076	0.002924	0.000000	0.008621	0.003049	0.007576	0.07143	88.44	35	chr9	34093402	.	G	A	88.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.144;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=0.366;SOR=1.609	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	6	0	1	0
chr9	34621463	34621463	G	A	exonic	ARID3C	.	nonsynonymous SNV	ARID3C:NM_001017363:exon7:c.C1234T:p.P412S,ARID3C:NM_001371945:exon7:c.C1051T:p.P351S	.	423	1097	2	0	0	2	0.000910747	.	.	.	2340606	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.00849723246432	.	.	8.797e-05	0	0.0002	0	0	0.0001	0	6.575e-05	6.47e-05	10	154602	rs745643006	8.234e-05	8.346e-05	7.512e-05	8.969e-05	0.0009	6.958e-05	6.535e-05	0.0004	0.0002	0.0002	0.0003	0	0	0	0.0009	7.321e-05	0.0002	5.641e-05	7.232e-05	7.219e-05	9.003e-05	5.38e-05	0.0001	3.973e-05	3.129e-05	5.845e-05	4.241e-05	0	0	6.544e-05	0	0	0	0.0034	0.0001	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	0.003	0.11197	B	0.001	0.04355	B	0.068636	0.21659	N	0.337827	0.999448	0.21182	N	0.695	0.17993	N	0.7	0.51474	T	0.79	0.01893	N	0.204	0.22614	-1.0262	0.21690	T	0.071	0.28871	T	10	0.057657063	0.06656	T	0.008497	0.22482	T	0.055	0.15663	.	.	0.0846915920261	0.08053	0.6534709493004769	0.65283	0.259062600134	0.28458	0.47923412919	0.35951	T	0.002168	0.01566	T	-0.412721	0.01907	T	-0.545908	0.17721	T	0.0663111175717987	0.08124	T	0.29797	0.05545	T	0.04018355	0.05690	0.08653984	0.20057	0.04018355	0.05689	0.08653984	0.20057	-3.953	0.23098	T	.	.	0.083	0.09143	B	.	.	2.252082	0.28770	17.91	0.85696856639027652	0.16055	0.64174	0.32322	D	AEFBI	0.165406	0.29190	N	-0.846389609474847	0.12139	0.5898839	-0.802591475709753	0.14433	0.7540878	0.999692066297346	0.41870	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	4.37	1.5	0.22029	1.083000	0.30427	3.227000	0.36886	-0.124000	0.13482	0.895000	0.31310	1.000000	0.68203	0.122000	0.19250	0.316:0.0:0.684:0.0	6.403	0.20853	270	0.89404	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002016	0.000000	0.002717	0.008772	0.000000	0.008621	0.003067	0.000000	0.07143	587.83	34	chr9	34621463	.	G	A	587.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.024;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=-0.049;SOR=0.711	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,107,1490	6	0	1	0
chr9	34662626	34662626	C	T	exonic	CCL27	.	nonsynonymous SNV	CCL27:NM_006664:exon1:c.G8A:p.G3E	.	430	1086	6	0	0	6	0.00275482	.	.	.	2340617	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.0267838976704	0.0002	.	0.0003	9.72e-05	0.0002	0	0	0.0005	0.0011	0	0.0003169	49	154602	rs141733148	0.0003	0.0003	0.0002	0.0003	0.0014	0.0002	0.0002	0.0007	0.0005	0.0002	0.0005	0.0007	0	0	0.0014	0.0003	0.0006	9.299e-05	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	4.815e-05	0	6.535e-05	0.0006	0	0	0	0.0003	0.0014	0	0.0	0.91255	D	0.0	0.92824	D	0.009	0.15093	B	0.007	0.12992	B	0.433785	0.12715	N	0.694155	0.999737	0.20548	N	1.095	0.27400	L	0.63	0.53088	T	-1.56	0.37759	N	0.315	0.35514	-1.0042	0.28696	T	0.086	0.33466	T	10	0.036081046	0.01888	T	0.026784	0.49666	D	0.027	0.05988	.	.	0.39798585902	0.39410	0.2452633769556556	0.24440	0.459284414605	0.45515	0.445302456617	0.31302	T	0.066577	0.32981	T	-0.446609	0.01182	T	-0.534361	0.18854	T	0.0295718856622654	0.01924	T	0.455954	0.13062	T	0.17936596	0.39004	0.1592614	0.37152	0.17936596	0.39003	0.1592614	0.37151	-5.482	0.41700	T	.	.	0.085	0.10304	B	.	.	1.873757	0.23803	16.16	0.98073718174729441	0.38046	0.04565	0.10208	N	AEFDGBI	0.075920	0.15260	N	-0.914608664459168	0.10500	0.5020374	-0.911542580719699	0.11822	0.6045836	0.999996137205169	0.74766	0.559995	0.30671	0	0.624146	0.53433	0	0.514364	0.09456	0	0.613276	0.41899	0	.	.	4.02	1.22	0.20300	0.638000	0.24363	-0.051000	0.12545	-0.294000	0.06260	0.365000	0.25883	0.000000	0.08366	0.451000	0.27917	0.0:0.6705:0.0:0.3295	5.896	0.18184	344	0.85734	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.000000	0.006793	0.008772	0.000000	0.017241	0.003049	0.000000	0.07143	1602.44	37	chr9	34662626	.	C	T	1602.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.101;DP=321;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.424;SOR=0.737	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	6	0	1	0
chr9	35295883	35295883	C	A	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001330653:exon8:c.C714A:p.D238E,UNC13B:NM_001371186:exon8:c.C714A:p.D238E,UNC13B:NM_001371189:exon8:c.C714A:p.D238E,UNC13B:NM_006377:exon8:c.C714A:p.D238E	.	435	1048	37	2	0	41	0.0191858	.	.	.	700991	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.145	.	0.0106	0.00479233	0.0084	0.0021	0.0074	0	0	0.0122	0.0167	0.0044	0.0081047	1253	154602	rs35199210	0.0096	0.0096	0.0096	0.0097	0.0333	0.0095	0.0094	0.0294	0.0280	0.0025	0.0102	0.0514	0	0.0002	0.0333	0.0097	0.0136	0.0040	0.0077	0.0077	0.0080	0.0073	0.0110	0.0073	0.0072	0.0097	0.0092	0.0019	0.0033	0.0110	0.0521	0.0006	9.434e-05	0.0102	0.0099	0.0170	0.0037	0.004	0.65419	D	0.171	0.33780	T	0.884	0.48618	P	0.138	0.33406	B	0.000984	0.40743	D	0.236533	0.972537	0.38954	D	2.35	0.67516	M	-1.98	0.85247	D	-0.37	0.14000	N	0.588	0.60833	-0.4719	0.69658	T	0.281	0.65299	T	10	0.0052330196	0.00114	T	.	.	.	0.145	0.38592	0.148	0.05138	0.660788651602	0.65794	0.19109466861837113	0.19027	0.263833591492	0.28942	0.610554933548	0.54395	T	0.016412	0.43235	T	-0.275902	0.11107	T	-0.159695	0.58380	T	0.0356482401155776	0.02920	T	0.89601	0.67171	D	0.08653681	0.20117	0.09496227	0.22500	0.08653681	0.20117	0.09496227	0.22500	-3.877	0.21958	T	.	.	0.263	0.65078	B	.;.;.;.	.;.;.;.	1.389786	0.18026	13.50	0.99145607044478112	0.53655	0.97075	0.72544	D	AEFBI	0.589649	0.58645	D	-0.393676163815362	0.25693	1.396658	-0.328153910817774	0.27193	1.507234	0.018091049775015	0.13020	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.8	1.96	0.25203	1.824000	0.38710	0.129000	0.15021	-0.231000	0.07715	1.000000	0.71638	0.944000	0.28851	0.993000	0.69303	0.0:0.7439:0.0:0.2561	12.280	0.54079	167	0.93508	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.023666	0.025253	0.033967	0.014620	0.050000	0.017241	0.018293	0.015152	0.1429	2210.42	33	chr9	35295883	.	C	A	2210.42	.	AC=2;AF=0.143;AN=14;DP=247;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.7;SOR=0.934	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1264	6	1	0	0
chr9	35403770	35403770	C	T	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001371188:exon30:c.C3403T:p.P1135S,UNC13B:NM_001371187:exon33:c.C5710T:p.P1904S,UNC13B:NM_001371186:exon39:c.C4510T:p.P1504S,UNC13B:NM_006377:exon39:c.C4513T:p.P1505S,UNC13B:NM_001330653:exon40:c.C4570T:p.P1524S,UNC13B:NM_001371189:exon40:c.C12760T:p.P4254S	.	427	1080	15	0	0	15	0.00689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	.	0.0002	0.00239617	0.0009	0	0.0008	0.0001	0	0.0002	0	0.0055	0.0007956	123	154602	rs142697917	0.0005	0.0005	0.0003	0.0006	0.0053	0.0005	0.0004	0.0049	0.0048	0	0.0002	0	0.0001	0	0.0035	0.0001	0.0009	0.0053	0.0005	0.0005	0.0002	0.0007	0.0100	0.0004	0.0004	0.0077	0.0069	0	0	0.0004	0	0.0002	0	0	0.0003	0	0.0100	0.02	0.50132	D	0.017	0.60337	D	0.999	0.77913	D	0.98	0.74843	D	0.000539	0.43581	D	0.244803	0.999718	0.49637	D	2.325	0.66631	M	-0.28	0.67543	T	-3.73	0.74348	D	0.298	0.54234	0.011	0.82483	D	0.520	0.82053	D	10	0.0092407465	0.00209	T	.	.	.	0.321	0.64318	.	.	0.76639022291	0.76425	0.6114429088853551	0.61076	0.745215368808	0.63480	0.558509230614	0.47058	T	0.171579	0.86721	T	-0.323132	0.06645	T	-0.235704	0.51217	T	0.0984215072423276	0.12183	T	0.98969	0.96662	D	0.14429174	0.33126	0.2677799	0.52640	0.14429174	0.33126	0.2677799	0.52639	-7.983	0.60954	D	.	.	0.332	0.66709	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.289450	0.65400	24.8	0.99924017160787093	0.98980	0.93374	0.58046	D	AEFBI	0.425451	0.49021	N	0.749501359117583	0.82872	7.871431	0.733176507760537	0.84894	8.421792	0.999997576502269	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	3.653000	0.54186	7.738000	0.67953	0.599000	0.40250	0.965000	0.33920	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	20.337	0.98749	142	0.94345	.;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.07143	55.44	35	chr9	35403770	.	C	T	55.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.022;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.93;ReadPosRankSum=-0.992;SOR=0.818	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1288	6	0	1	0
chr9	35660417	35660417	C	T	exonic	CCDC107	.	nonsynonymous SNV	CCDC107:NM_001195200:exon3:c.C275T:p.A92V,CCDC107:NM_001195201:exon3:c.C275T:p.A92V,CCDC107:NM_001195217:exon3:c.C275T:p.A92V,CCDC107:NM_174923:exon3:c.C275T:p.A92V	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.012947585568	.	.	0.0004	0	0.0035	0.0001	0	7.696e-05	0.0024	8.576e-05	0.0003169	49	154602	rs201836449	5.362e-05	5.746e-05	6.562e-05	4.148e-05	0.0016	4.365e-05	4.037e-05	0.0013	0.0012	0	0.0016	0	2.521e-05	0	0	2.706e-06	6.661e-05	1.176e-05	3.944e-05	3.94e-05	7.711e-05	0	0.0003	1.716e-05	1.13e-05	0.0001	8.291e-05	0	0	0.0003	0	0	0	0	1.47e-05	0	0	0.035	0.57480	D	0.02	0.60972	D	0.975	0.58077	D	0.6	0.50752	P	0.368658	0.13561	N	0.690035	0.999913	0.51042	D	1.15	0.29295	L	1.36	0.34452	T	-2.83	0.68532	D	0.383	0.45047	-1.0729	0.08787	T	0.101	0.37366	T	10	0.014423072	0.00303	T	0.012948	0.31963	T	0.096	0.27654	0.481	0.56142	0.385578977469	0.38175	0.29728151792494306	0.29641	0.297192746947	0.32101	0.317612349987	0.13059	T	0.100843	0.40703	T	-0.487362	0.00672	T	-0.491852	0.23198	T	0.0668245662833898	0.08197	T	0.80002	0.44558	T	0.15870422	0.35690	0.16469891	0.38139	0.15870422	0.35689	0.16469891	0.38139	-4.2	0.31932	T	.	.	0.127	0.28027	B	.;.;.;.;.;.	.;.;.;.;.;.	2.962140	0.39448	21.0	0.98914036038945508	0.48436	0.26274	0.22945	N	AEFDBCI	0.186270	0.31358	N	-0.112549154606584	0.36846	2.135352	-0.211011706399124	0.31138	1.759513	0.99999971531417	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.43	4.43	0.52967	2.012000	0.40551	2.528000	0.33154	0.594000	0.32500	0.045000	0.21207	0.874000	0.27626	0.168000	0.20914	0.0:1.0:0.0:0.0	12.858	0.57284	231	0.90996	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr9	35660417	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1243	6	1	0	0
chr9	35662595	35662595	A	T	exonic	ARHGEF39	.	nonsynonymous SNV	ARHGEF39:NM_032818:exon7:c.T820A:p.C274S	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.00834421356714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	8.993e-07	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	8.993e-07	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.209	0.26798	T	0.932	0.51990	P	0.387	0.44046	B	0.000000	0.84330	D	0.044227	0.999989	0.81001	D	2.28	0.64929	M	1.0	0.41392	T	-7.24	0.94326	D	0.558	0.58287	-0.9128	0.46505	T	0.121	0.42208	T	10	0.877632	0.87061	D	0.008344	0.22080	T	0.353	0.67418	0.817	0.93127	0.320256813643	0.31633	0.5924096591908586	0.59170	1.04129319823	0.75806	0.546586155891	0.45376	T	0.050329	0.28563	T	0.160485	0.70245	D	-0.00725087	0.69865	D	0.996269464492798	0.88992	D	0.720728	0.33361	T	0.7802714	0.82670	0.8170127	0.89347	0.7802714	0.82672	0.8170127	0.89347	-9.852	0.73021	D	.	.	0.406	0.59909	A	.	.	3.949093	0.57843	23.9	0.99347823416234471	0.60452	0.68690	0.33898	D	AEFDBCI	0.385893	0.46646	N	0.441503966016217	0.63722	4.611568	0.50065007114702	0.68034	5.164755	0.999999981516188	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.606735	0.37207	0	0.662433	0.64102	0	.	.	5.95	5.95	0.96415	3.083000	0.49833	8.186000	0.76784	0.745000	0.86679	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	12.808	0.57003	229	0.91079	Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	69.22	35	chr9	35662595	.	A	T	69.22	.	AC=2;AF=0.143;AN=14;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=34.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1046	6	1	0	0
chr9	35733405	35733405	A	G	exonic	CREB3	.	nonsynonymous SNV	CREB3:NM_006368:exon4:c.A355G:p.R119G	.	431	1053	36	2	0	40	0.0186393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	.	0.0038	0.00439297	0.0065	0.0010	0.0034	0.0001	0.0132	0.0069	0.0088	0.0111	0.0063389	980	154602	rs11538707	0.0056	0.0056	0.0054	0.0058	0.0116	0.0055	0.0054	0.0103	0.0100	0.0007	0.0027	0.0061	7.557e-05	0.0134	0.0116	0.0052	0.0050	0.0108	0.0041	0.0041	0.0037	0.0046	0.0116	0.0038	0.0037	0.0092	0.0083	0.0009	0	0.0031	0.0035	0	0.0120	0.0068	0.0050	0.0024	0.0116	0.006	0.61437	D	0.168	0.30631	T	.	.	.	.	.	.	0.035232	0.01799	N	1.977850	1	0.08975	N	.	.	.	-1.01	0.76168	T	-2.14	0.48523	N	0.266	0.30118	-0.8323	0.53152	T	0.257	0.62766	T	10	0.007941008	0.00180	T	.	.	.	0.129	0.35316	.	.	0.48447252604	0.48079	0.10674431455268113	0.10604	0.169132673809	0.19067	0.278317034245	0.07259	T	.	.	.	-0.494845	0.00611	T	-0.474192	0.25065	T	0.0265326855937384	0.01479	T	0.545645	0.18668	T	0.18463843	0.39789	0.27675217	0.53622	0.18463843	0.39788	0.27675217	0.53621	-2.862	0.08769	T	.	.	0.100	0.17232	B	.	.	0.877539	0.12505	9.037	0.89253841185197447	0.18639	0.04782	0.10496	N	ALL	0.126382	0.24329	N	-0.941354268813209	0.09888	0.4700162	-1.01968557970873	0.09353	0.4648129	0.999999997267324	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.79	-1.43	0.08418	0.052000	0.14046	1.933000	0.29783	0.691000	0.84096	0.000000	0.06391	0.293000	0.24176	0.017000	0.10941	0.3462:0.2055:0.4483:0.0	6.497	0.21345	107	0.95615	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.000000	0.010870	0.002924	0.000000	0.000000	0.015244	0.011364	0.07143	2083.49	33	chr9	35733405	.	A	G	2083.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.02;DP=341;ExcessHet=0;FS=0.6;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=-1.002;SOR=0.617	GT:AD:DP:GQ:PL	0/1:75,81:156:99:2094,0,1773	6	0	1	0
chr9	35740931	35740931	T	C	exonic	GBA2	.	nonsynonymous SNV	GBA2:NM_001330660:exon5:c.A920G:p.N307S,GBA2:NM_020944:exon5:c.A920G:p.N307S	Spastic paraplegia 46, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.270	0.0521185696881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.21718	T	0.176	0.29843	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.205	0.62170	M	.	.	.	-2.94	0.64478	D	0.813	0.80866	-0.2722	0.75752	T	0.438	0.77733	T	9	0.81944734	0.81159	D	0.052119	0.64939	D	0.270	0.58507	.	.	0.640935244609	0.63797	0.6768186916343968	0.67620	0.623771184551	0.56604	0.536118865013	0.43898	T	0.621184	0.88128	D	-0.0505569	0.44361	T	-0.310398	0.43615	T	0.836964676258882	0.49082	D	0.948505	0.80194	D	0.2854741	0.51568	0.25593233	0.51284	0.2854741	0.51568	0.25593233	0.51283	-7.385	0.57653	T	0.19543923813306965	0.25783	0.377	0.62825	A	.;.	.;.	3.649919	0.51800	23.1	0.99833157591070931	0.91456	0.97346	0.74169	D	AEFDBCI	0.911934	0.87187	D	0.746197662101971	0.82657	7.816971	0.729192382702528	0.84593	8.335976	0.999999999999989	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.95	5.95	0.96415	7.847000	0.85186	7.956000	0.75945	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.410	0.83546	94	0.96106	Glycosyl-hydrolase family 116, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	49.44	36	chr9	35740931	.	T	C	49.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.94;ReadPosRankSum=1.83;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,105,1575:.	6	0	1	0
chr9	35740940	35740940	C	T	exonic	GBA2	.	nonsynonymous SNV	GBA2:NM_001330660:exon5:c.G911A:p.G304D,GBA2:NM_020944:exon5:c.G911A:p.G304D	Spastic paraplegia 46, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0109171930528	.	.	8.24e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs781401822	6.841e-07	6.84e-07	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.25055	T	0.165	0.31629	T	0.957	0.66517	D	0.837	0.62516	P	0.000022	0.55875	D	0.157480	0.999997	0.58761	D	1.84	0.48285	L	.	.	.	-3.65	0.69950	D	0.751	0.75009	-0.6336	0.63418	T	0.304	0.67510	T	9	0.7602317	0.76289	D	0.010917	0.28000	T	0.144	0.38394	.	.	0.622847267328	0.61978	0.8271134895462563	0.82669	0.607307371854	0.55543	0.667712807655	0.62512	T	0.615563	0.87878	D	-0.0815635	0.39462	T	-0.129235	0.61036	T	0.619977295398712	0.37205	D	0.90391	0.66280	D	0.27556726	0.50620	0.290826	0.55107	0.27556726	0.50619	0.290826	0.55106	-10.02	0.75265	D	0.2311444037605442	0.31278	0.096	0.15251	B	.;.	.;.	3.724832	0.53253	23.3	0.9977144634247348	0.85918	0.93221	0.57641	D	AEFDBCI	0.547183	0.56098	D	0.542330508732232	0.69615	5.382385	0.52618056158549	0.69759	5.40623	0.999999999218782	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.95	5.05	0.67566	4.023000	0.56921	5.962000	0.51841	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.952000	0.50033	0.0:0.8591:0.0:0.1409	10.743	0.45363	94	0.96106	Glycosyl-hydrolase family 116, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	46.44	36	chr9	35740940	.	C	T	46.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.66;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.22;ReadPosRankSum=0.66;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,105,1575:.	6	0	1	0
chr9	35751276	35751276	T	G	exonic	RGP1	.	nonsynonymous SNV	RGP1:NM_001080496:exon6:c.T498G:p.D166E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00358232934776	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.023	0.19966	B	0.000001	0.84330	D	0.093877	0.812457	0.34660	D	0.01	0.07948	N	.	.	.	0.09	0.05917	N	0.313	0.35301	-1.0130	0.25975	T	0.068	0.27845	T	9	0.0805538	0.13088	T	0.003582	0.08185	T	0.090	0.26093	0.441	0.49648	0.206339911435	0.20273	0.33821284692644143	0.33734	0.174257037238	0.19618	0.586529970169	0.51005	T	0.005462	0.04911	T	-0.291332	0.09503	T	-0.656254	0.08521	T	0.245180889964104	0.22656	T	0.610139	0.23115	T	0.08552729	0.19844	0.062405653	0.12205	0.08552729	0.19843	0.062405653	0.12205	-4.987	0.36698	T	.	.	0.116	0.23500	B	.	.	2.056802	0.26148	17.02	0.78497283107076599	0.12326	0.79849	0.39650	D	AEFDBI	0.170549	0.29746	N	-0.49421557362871	0.22269	1.187937	-0.264316474339988	0.29282	1.639339	0.999979708145109	0.50053	0.722319	0.85440	0	0.653731	0.59785	0	0.65145	0.50148	0	0.735409	0.98432	0	.	.	5.52	4.39	0.52211	2.783000	0.47453	1.558000	0.27338	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.767000	0.36405	0.0:0.1553:0.0:0.8447	8.070	0.29846	99	0.95913	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	651.53	67	chr9	35751276	.	T	G	651.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.054;DP=262;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=0.29;SOR=0.687	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	6	0	1	0
chr9	35834542	35834542	T	A	exonic	TMEM8B	.	nonsynonymous SNV	TMEM8B:NM_001042590:exon2:c.T590A:p.F197Y,TMEM8B:NM_001363620:exon2:c.T590A:p.F197Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51669943	0.62407	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.787421	0.42665	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.747	0.74926	P	.	.	4.780718	0.77484	26.7	0.92731753725199129	0.22232	0.93778	0.59164	D	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999999999999926	0.74766	0.055125	0.00676	3	0.135488	0.03519	2	0.174137	0.04171	1	0.24566	0.04862	0	0.977453	0.81113	5.27	5.27	0.73797	7.440000	0.79607	7.871000	0.71963	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.542	0.67587	163	0.93656	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	32.47	1	chr9	35834542	.	T	A	32.47	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.967;DP=13;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/0:4,0:4:12:0,12,109	4	0	1	2
chr9	35906578	35906578	-	CACCACCTCCAC	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.291_292insCACCACCTCCAC:p.H103_H104insLHHH	.	594	912	5	3	8	19	0.00599455	.	.	.	3887060	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.1283	.	0.0017	0	0.0009	0.0002	0	0.0024	0.0137	0.0014	5.17e-05	8	154602	rs745974201	0.0046	0.0047	0.0046	0.0047	0.0113	0.0045	0.0045	0.0086	0.0076	0.0008	0.0023	0.0269	0.0001	6.03e-05	0.0113	0.0045	0.0065	0.0039	0.0062	0.0068	0.0061	0.0064	0.0068	0.0057	0.0055	0.0061	0.0058	0.0023	0.0030	0.0041	0.0396	0	0	0	0.0068	0.0084	0.0061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	856.86	36	chr9	35906578	.	T	TCACCACCTCCAC	856.86	.	AC=2;AF=0.167;AN=12;DP=213;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=35.55;SOR=1.508	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,107,1397	5	1	0	1
chr9	35906586	35906586	-	CCACCACCACCACCACCACCACCA	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.299_300insCCACCACCACCACCACCACCACCA:p.H105_P106insHHHHHHHH	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0009	0.0009	0.0008	0.0165	0.0008	0.0008	0.0152	0.0147	0.0165	0.0014	0.0070	0	0	0.0020	0.0002	0.0020	0.0009	0.0049	0.0081	0.0049	0.0048	0.0180	0.0044	0.0042	0.0162	0.0155	0.0180	0	0.0025	0.0054	0	0	0	0.0002	0.0038	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2670.03	40	chr9	35906586	.	T	TCCACCACCACCACCACCACCACCA	2670.03	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.631;DP=255;ExcessHet=1.383;FS=0.714;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=22.63;ReadPosRankSum=-0.001;SOR=0.833	GT:AD:DP:GQ:PL	0/0:26,0:54:99:1098,1176,2236	5	0	1	1
chr9	35906598	35906598	-	CCACCCCCACCG	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.311_312insCCACCCCCACCG:p.H109_H110insPHRH	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs762598108	0.0022	0.0020	0.0023	0.0020	0.0057	0.0021	0.0021	0.0037	0.0031	0.0014	0.0014	0.0008	0.0006	0.0011	0.0057	0.0024	0.0027	0.0008	0.0026	0.0027	0.0026	0.0026	0.0035	0.0023	0.0021	0.0030	0.0028	0.0017	0	0.0026	0.0013	0.0008	0.0012	0.0057	0.0035	0.0022	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	498.39	17	chr9	35906598	.	A	ACCACCCCCACCG	498.39	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.994;DP=200;ExcessHet=0.5115;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=1.32;SOR=0.573	GT:AD:DP:GQ:PL	0/0:64,0:64:99:0,120,1800	4	0	1	2
chr9	36191267	36191267	G	A	exonic	CLTA	.	nonsynonymous SNV	CLTA:NM_001076677:exon1:c.G211A:p.G71S,CLTA:NM_001184760:exon1:c.G211A:p.G71S,CLTA:NM_001184761:exon1:c.G211A:p.G71S,CLTA:NM_001184762:exon1:c.G211A:p.G71S,CLTA:NM_001311204:exon1:c.G211A:p.G71S,CLTA:NM_001311205:exon1:c.G211A:p.G71S,CLTA:NM_001833:exon1:c.G211A:p.G71S,CLTA:NM_007096:exon1:c.G211A:p.G71S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.0118329771341	.	.	.	.	.	.	.	.	.	.	.	.	.	rs773671483	2.188e-06	3.42e-06	1.439e-06	2.957e-06	1.292e-05	5.8e-07	1.6e-07	.	.	0	0	0	0	0	0	9.322e-07	1.755e-05	1.292e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.21968	T	0.117	0.36365	T	0.181	0.33602	B	0.287	0.40572	B	0.031339	0.25183	N	0.403800	0.99972	0.48557	D	0.995	0.25082	L	.	.	.	-0.64	0.27052	N	0.221	0.24758	-1.0000	0.29917	T	0.156	0.48772	T	9	0.10524717	0.19445	T	0.011833	0.29841	T	0.016	0.02506	0.342	0.33464	0.375026046212	0.37117	0.408604963086329	0.40776	0.524585786375	0.50140	0.616082429886	0.55175	T	0.175988	0.52577	T	-0.123376	0.32572	T	-0.414997	0.31651	T	0.289393782615662	0.24564	T	0.864814	0.56401	D	0.13116068	0.30582	0.18085505	0.40911	0.13116068	0.30581	0.18085505	0.40910	-3.772	0.48944	T	.	.	0.095	0.14979	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.478310	0.31957	18.90	0.99770795300938642	0.85918	0.77531	0.38131	D	AEFDGBCI	0.464554	0.51300	N	-0.179248646335849	0.33999	1.935432	-0.0483006490464925	0.37564	2.201118	0.99999999988205	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.41	3.58	0.40133	1.333000	0.33421	4.931000	0.46129	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.995000	0.73285	0.1655:0.0:0.8345:0.0	10.013	0.41171	444	0.79803	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	520.27	30	chr9	36191267	.	G	A	520.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.572;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-0.498;SOR=0.848	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	5	0	1	1
chr9	37746717	37746717	C	T	exonic	FRMPD1	.	nonsynonymous SNV	FRMPD1:NM_001371223:exon16:c.C4685T:p.T1562M,FRMPD1:NM_001371225:exon16:c.C4685T:p.T1562M,FRMPD1:NM_014907:exon16:c.C4685T:p.T1562M,FRMPD1:NM_001371224:exon17:c.C4685T:p.T1562M	.	425	1083	14	0	0	14	0.00642202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.0181044419361	0.0005	0.000998403	0.0013	0.0002	0.0004	0.0001	0	0.0009	0.0011	0.0051	0.0010349	160	154602	rs138292555	0.0010	0.0010	0.0008	0.0011	0.0048	0.0009	0.0009	0.0045	0.0043	0.0002	0.0005	0	0.0002	1.879e-05	0.0043	0.0008	0.0009	0.0048	0.0006	0.0006	0.0005	0.0007	0.0066	0.0005	0.0005	0.0048	0.0042	0.0001	0	0.0008	0	0	0	0	0.0006	0.0014	0.0066	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.095	0.58118	M	2.72	0.11947	T	-2.51	0.54546	D	0.65	0.66101	-1.1252	0.02026	T	0.095	0.35871	T	10	0.013040841	0.00278	T	0.018104	0.40048	T	0.182	0.45420	.	.	0.617646156206	0.61455	0.6220305346248838	0.62136	0.644980302806	0.57974	0.547689378262	0.45532	T	0.134961	0.46651	T	-0.292635	0.09373	T	-0.192311	0.55373	T	0.0748716071248055	0.09318	T	0.833117	0.50161	T	0.36147833	0.57948	0.39572087	0.64232	0.36147833	0.57949	0.39572087	0.64232	-4.964	0.36447	T	.	.	0.205	0.43186	B	.;.	.;.	4.557147	0.71774	25.7	0.99917412614993062	0.98518	0.97174	0.73125	D	AEFDBI	0.483911	0.52415	N	0.693957481417395	0.79237	7.035421	0.682701674811385	0.81068	7.440592	0.99999999999977	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.71	5.71	0.89031	4.239000	0.58490	7.674000	0.64943	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.776000	0.36750	0.0:1.0:0.0:0.0	17.358	0.87230	671	0.60868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.005051	0.001359	0.011696	0.000000	0.008621	0.003049	0.003788	0.08333	803.27	34	chr9	37746717	.	C	T	803.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.56;DP=276;ExcessHet=0;FS=0.836;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=0.027;SOR=0.864	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	0	1	1
chr9	38610339	38610339	C	T	exonic	ANKRD18A	.	nonsynonymous SNV	ANKRD18A:NM_001331100:exon5:c.G674A:p.R225H,ANKRD18A:NM_147195:exon5:c.G674A:p.R225H	.	437	1074	11	0	0	11	0.00509495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00097080693899	.	0.000599042	0.0031	0.0004	0	0	0	0.0036	0.0042	0.0044	0.0006339	98	154602	rs200461192	0.0020	0.0019	0.0019	0.0020	0.0054	0.0019	0.0019	0.0039	0.0034	0.0002	0.0022	0.0059	0	0.0001	0.0054	0.0020	0.0023	0.0025	0.0016	0.0016	0.0017	0.0016	0.0024	0.0015	0.0014	0.0021	0.0020	0.0004	0	0.0016	0.0078	0	0.0002	0.0136	0.0024	0.0024	0.0010	0.121	0.27783	T	0.249	0.23776	T	0.054	0.22658	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	1.55	0.29866	T	-0.18	0.09796	N	0.109	0.09490	-1.0312	0.20066	T	0.043	0.18451	T	7	0.005859643	0.00131	T	9.71E-4	0.01003	T	0.025	0.05312	.	.	0.0138822411134	0.00435	0.06953741690592233	0.06891	0.0301046387566	0.03106	0.842436909676	0.88465	D	0.001522	0.00969	T	-0.649699	0.00073	T	-0.71064	0.05263	T	0.00105927226958556	0.00010	T	0.218978	0.02800	T	0.02896199	0.02316	0.05091302	0.08089	0.02896199	0.02316	0.05091302	0.08088	-1.579	0.01933	T	.	.	0.067	0.02518	B	.	.	0.099798	0.05017	1.568	0.67235018702909288	0.08294	0.00025	0.00253	N	AEFGI	0.019622	0.00698	N	-1.44879507745295	0.02226	0.09807786	-1.59371509615333	0.01693	0.07692855	0.0958301257809382	0.16235	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	0.578	-1.16	0.09181	0.182000	0.16710	-0.190000	0.11047	-0.892000	0.02379	0.062000	0.21832	0.000000	0.08366	0.003000	0.05239	.	.	.	976	0.04745	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010937	0.016129	0.000000	0.000000	0.000000	0.000000	0.005814	0.041667	0.07143	846.44	92	chr9	38610339	.	C	T	846.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.68;DP=278;ExcessHet=0;FS=1.707;MLEAC=1;MLEAF=0.071;MQ=57.02;MQRankSum=-5.898;QD=9.2;ReadPosRankSum=-0.123;SOR=0.914	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	6	0	1	0
chr9	39360041	39360041	A	T	exonic	SPATA31A1	.	nonsynonymous SNV	SPATA31A1:NM_001085452:exon4:c.A2276T:p.Q759L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00116856348519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.60337	D	.	.	.	.	.	.	0.090824	0.02452	N	1.930630	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.167	0.17691	-0.9693	0.37345	T	0.012	0.04700	T	10	0.07996008	0.12923	T	0.001169	0.01484	T	0.026	0.05648	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	.	.	.	-0.216369	0.18491	T	-0.548575	0.17464	T	0.126159244639023	0.15023	T	0.391261	0.09725	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.702136	0.10711	7.402	0.93903005302819831	0.23933	0.00431	0.02113	N	AEFI	0.034511	0.04287	N	-1.12540210214184	0.06194	0.284491	-1.29405058840713	0.04510	0.2129055	1.44917017380798E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.63	-1.4	0.08499	-0.373000	0.07550	-0.743000	0.07611	-0.162000	0.11565	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4962:0.3005:0.2033:0.0	2.373	0.04069	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	45.35	7	chr9	39360041	.	A	T	45.35	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.029;DP=56;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=24.37;MQRankSum=1.03;QD=4.12;ReadPosRankSum=0.381;SOR=0.18	GT:AD:DP:GQ:PL	0/0:11,0:11:30:0,30,450	5	0	1	1
chr9	41920303	41920303	G	A	exonic	CNTNAP3B	.	nonsynonymous SNV	CNTNAP3B:NM_001201380:exon18:c.C2762T:p.T921M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1424906115	0.0003	0.0004	0.0003	0.0003	0.0024	0.0003	0.0002	0.0017	0.0015	0.0024	0.0002	7.127e-05	6.288e-05	0.0005	0.0005	0.0002	0.0004	0.0002	0.0013	0.0041	0.0012	0.0013	0.0039	0.0011	0.0011	0.0034	0.0032	0.0039	0	0.0007	0	0.0006	0.0004	0	0.0003	0.0019	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.635	0.64818	.	.	.	.	.	.	.	0.46516037	0.59525	T	.	.	.	.	.	.	.	.	.	0.5963144222418952	0.59561	.	.	.	.	.	0.367909	0.73290	T	.	.	.	.	.	.	.	.	.	0.963304	0.86380	D	.	.	.	.	.	.	.	.	-10.079	0.74383	D	.	.	0.156	0.34580	B	.	.	4.906694	0.80697	27.4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.658000	0.90860	11.431000	0.92740	0.340000	0.19754	1.000000	0.71638	1.000000	0.68203	0.642000	0.32476	.	.	.	994	0.00715	Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	100.27	16	chr9	41920303	.	G	A	100.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.73;DP=117;ExcessHet=0;FS=2.398;MLEAC=1;MLEAF=0.083;MQ=30.45;MQRankSum=-1.519;QD=8.36;ReadPosRankSum=3.22;SOR=1.609	GT:AD:DP:GQ:PL	0/0:27,0:27:63:0,63,945	5	0	1	1
chr9	65737269	65737269	G	A	exonic	FOXD4L4	.	nonsynonymous SNV	FOXD4L4:NM_199244:exon1:c.G124A:p.E42K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1391085420	1.37e-06	0.0001	0	2.755e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.997e-07	0	0	1.313e-05	6.566e-05	1.284e-05	1.344e-05	2.411e-05	2.18e-06	8.2e-07	.	.	2.411e-05	0	0	0	0	0	0	1.47e-05	0	0	0.03	0.45393	D	0.094	0.39645	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-3.33	0.93928	D	-1.19	0.30346	N	0.146	0.14763	-0.2242	0.77040	T	0.611	0.86212	D	6	0.2489528	0.42200	T	0.977694	0.99876	D	.	.	0.314	0.28935	0.920657886003	0.91985	0.19302706148736593	0.19220	.	.	.	.	.	0.031689	0.22156	T	0.0374431	0.56708	T	-0.183992	0.56151	T	0.238909908774726	0.22369	T	0.481052	0.14533	T	0.0695737	0.15253	0.15053736	0.35499	0.0695737	0.15253	0.15053736	0.35498	-7.676	0.58841	D	.	.	0.086	0.10497	B	.	.	1.908215	0.24238	16.32	0.98042989383525847	0.37805	0.42992	0.27000	N	AEFI	0.053290	0.09589	N	-0.598076032017582	0.19003	0.9911656	-0.838380595120398	0.13567	0.7045324	1.09648973830877E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	1.392000	0.34095	2.150000	0.30904	0.208000	0.17961	0.016000	0.19238	0.489000	0.25143	0.007000	0.07825	.	.	.	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	35.44	59	chr9	65737269	.	G	A	35.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.994;DP=607;ExcessHet=0;FS=0.825;MLEAC=1;MLEAF=0.071;MQ=41.69;MQRankSum=-1.187;QD=0.2;ReadPosRankSum=0.386;SOR=0.753	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:133,0:133:99:.:.:0,120,1800:.	6	0	1	0
chr9	67899199	67899199	A	-	exonic	ANKRD20A1	.	frameshift deletion	ANKRD20A1:NM_032250:exon14:c.1369delA:p.N459Ifs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380160893	0.0005	0.0010	0.0005	0.0005	0.0010	0.0004	0.0004	0.0004	0.0004	0.0004	0.0006	0.0008	0.0006	0.0005	0.0010	0.0005	0.0003	0.0007	4.8e-05	8.079e-05	4.456e-05	5.202e-05	0.0001	7.96e-06	2.98e-06	2.317e-05	9.28e-06	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	46.39	1	chr9	67899198	.	CA	C	46.39	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.967;DP=17;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=37.42;MQRankSum=0.967;QD=15.46;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/0:13,0:13:36:0,36,540	2	0	1	4
chr9	68780918	68780918	G	A	exonic	FAM122A	.	nonsynonymous SNV	FAM122A:NM_138333:exon1:c.G754A:p.G252R	.	423	1088	11	0	0	11	0.00502972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0277429215411	0.0005	0.000399361	0.0011	0	0.0004	0	0.0002	0.0011	0.0011	0.0031	0.0009767	151	154602	rs200554338	0.0007	0.0007	0.0006	0.0008	0.0030	0.0006	0.0006	0.0027	0.0026	2.987e-05	0.0006	0.0056	0	7.488e-05	0.0029	0.0004	0.0009	0.0030	0.0004	0.0004	0.0004	0.0005	0.0012	0.0003	0.0003	0.0005	0.0004	0	0	0.0003	0.0046	0	0	0.0034	0.0005	0.0014	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.000040	0.55875	D	0.161453	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-0.5457	0.66949	T	0.265	0.63652	T	10	0.010119289	0.00226	T	0.027743	0.50513	D	0.246	0.55340	.	.	0.253981072376	0.25009	0.36986581751897574	0.36900	1.80813242872	0.91769	0.648295760155	0.59744	T	.	.	.	-0.218111	0.18252	T	-0.0891288	0.64227	T	0.0561491323691788	0.06549	T	0.926707	0.72990	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.137794	0.86009	28.8	0.99872591447364489	0.94989	0.86635	0.45957	D	AEFDGBCI	0.766183	0.70244	D	0.695315502889757	0.79327	7.054033	0.663129149016029	0.79592	7.114998	0.999999999355692	0.74766	0.627647	0.40530	0	0.685571	0.66316	0	0.672317	0.60874	0	0.638787	0.57140	0	.	.	4.42	4.42	0.52775	6.927000	0.75657	11.766000	0.95743	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	12.838	0.57171	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.005435	0.005848	0.000000	0.000000	0.006098	0.000000	0.1429	121.55	33	chr9	68780918	.	G	A	121.55	.	AC=2;AF=0.143;AN=14;DP=230;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=24.31;SOR=1.022	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	6	1	0	0
chr9	70610723	70610723	C	G	exonic	TRPM3	.	nonsynonymous SNV	TRPM3:NM_001366150:exon17:c.G2487C:p.E829D,TRPM3:NM_206944:exon17:c.G2028C:p.E676D,TRPM3:NM_001007471:exon18:c.G2517C:p.E839D,TRPM3:NM_001366141:exon18:c.G2523C:p.E841D,TRPM3:NM_001366143:exon18:c.G2523C:p.E841D,TRPM3:NM_001366149:exon18:c.G2523C:p.E841D,TRPM3:NM_001366151:exon18:c.G2517C:p.E839D,TRPM3:NM_020952:exon18:c.G2058C:p.E686D,TRPM3:NM_206945:exon18:c.G2064C:p.E688D,TRPM3:NM_206947:exon18:c.G2103C:p.E701D,TRPM3:NM_001366142:exon19:c.G2559C:p.E853D,TRPM3:NM_001366145:exon19:c.G2553C:p.E851D,TRPM3:NM_001366146:exon19:c.G2553C:p.E851D,TRPM3:NM_001366148:exon19:c.G2598C:p.E866D,TRPM3:NM_001366154:exon19:c.G2094C:p.E698D,TRPM3:NM_024971:exon19:c.G2094C:p.E698D,TRPM3:NM_206946:exon19:c.G2133C:p.E711D,TRPM3:NM_001366147:exon20:c.G2628C:p.E876D,TRPM3:NM_001366152:exon20:c.G2628C:p.E876D	.	417	1057	44	4	0	52	0.0240074	.	.	.	2826143	not_provided|TRPM3-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.024	0.0118216210745	0.0051	0.00319489	0.0054	0.0011	0.0036	0	0.0017	0.0064	0.0055	0.0094	0.0053298	824	154602	rs117283138	0.0067	0.0068	0.0065	0.0070	0.0160	0.0066	0.0066	0.0133	0.0123	0.0010	0.0058	0.0076	5.038e-05	0.0012	0.0160	0.0071	0.0068	0.0102	0.0048	0.0048	0.0047	0.0049	0.0082	0.0045	0.0044	0.0070	0.0066	0.0015	0.0110	0.0082	0.0046	0.0002	0.0006	0.0102	0.0067	0.0028	0.0079	0.271	0.18562	T	0.567	0.13140	T	0.0	0.11197	B	0.002	0.13708	B	0.000076	0.52346	D	0.165839	0.625744	0.32745	D	.	.	.	-1.71	0.83157	D	-0.68	0.19509	N	0.334	0.66615	-0.9954	0.31191	T	0.053	0.22462	T	10	0.0075959265	0.00173	T	0.011822	0.29821	T	0.456	0.75483	0.146	0.04941	0.605332244828	0.60217	0.46486820445237925	0.46405	0.754220577707	0.63932	0.519244551659	0.41520	T	0.07558	0.35299	T	-0.24288	0.14984	T	-0.114123	0.62281	T	0.00462167889087959	0.00049	T	0.872913	0.59112	D	.	.	.	.	.	.	.	.	-3.589	0.17698	T	.	.	0.074	0.06069	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.842900	0.23410	16.01	0.99042235127147105	0.51051	0.70471	0.34604	D	AEFBI	0.296227	0.40613	N	-0.246729905854376	0.31234	1.74935	-0.200379544437532	0.31524	1.784809	0.789892153716543	0.23996	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	6.17	1.1	0.19578	-0.370000	0.07578	-0.502000	0.08796	0.599000	0.40250	0.412000	0.26266	0.032000	0.21310	0.991000	0.66497	0.1174:0.5602:0.0:0.3225	5.807	0.17708	976	0.04745	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.010070	0.000000	0.008152	0.017544	0.000000	0.008621	0.009146	0.022727	0.07143	518.53	50	chr9	70610723	.	C	G	518.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.104;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=-1.661;SOR=0.728	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1118	6	0	1	0
chr9	71698017	71698017	T	C	exonic	CEMIP2	.	nonsynonymous SNV	CEMIP2:NM_001135820:exon19:c.A3376G:p.T1126A,CEMIP2:NM_001349784:exon20:c.A1651G:p.T551A,CEMIP2:NM_013390:exon20:c.A3565G:p.T1189A	.	424	1086	11	1	0	13	0.00594966	.	.	.	2427603	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.00380662956895	0.0005	0.000798722	0.0009	9.61e-05	0.0009	0	0.0005	0.0012	0.0022	0.0010	0.0008732	135	154602	rs201694886	0.0006	0.0006	0.0006	0.0007	0.0080	0.0006	0.0006	0.0062	0.0055	0.0003	0.0005	0.0031	0	0.0003	0.0080	0.0005	0.0012	0.0013	0.0007	0.0007	0.0006	0.0007	0.0010	0.0006	0.0005	0.0008	0.0008	0.0001	0	0.0007	0.0017	0	0	0.0238	0.0010	0.0009	0.0004	0.524	0.25664	T	0.536	0.24987	T	0.001	0.09854	B	0.003	0.14300	B	0.118133	0.19126	N	0.580439	1	0.08975	N	.	.	.	0.81	0.48460	T	-1.59	0.40850	N	0.173	0.23884	-1.0468	0.15303	T	0.062	0.25672	T	10	0.006872356	0.00156	T	0.003807	0.08899	T	0.094	0.27141	.	.	0.223146558224	0.21909	0.578841830112091	0.57813	0.168028649199	0.18950	0.297638714314	0.10050	T	0.028113	0.20438	T	-0.556924	0.00265	T	-0.613293	0.11718	T	0.0203770377283535	0.00737	T	0.59944	0.32403	T	0.029134512	0.02360	0.031483978	0.01744	0.029134512	0.02359	0.031483978	0.01744	-3.313	0.13906	T	.	.	0.065	0.04517	B	.;.;.	.;.;.	1.761415	0.22403	15.61	0.89515854337299094	0.18863	0.86564	0.45870	D	AEFDGBI	0.133103	0.25265	N	-0.733214468905173	0.15093	0.7576322	-0.661355988984465	0.17930	0.955628	0.983492907210702	0.30569	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.8	-1.14	0.09241	2.364000	0.43840	1.331000	0.25669	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.1281:0.1347:0.2266:0.5106	1.857	0.02988	871	0.31377	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.000000	0.009511	0.011696	0.000000	0.008621	0.000000	0.003788	0.07143	433.53	30	chr9	71698017	.	T	C	433.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.389;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-0.503;SOR=0.776	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1025	6	0	1	0
chr9	75077540	75077540	G	A	exonic	NMRK1	.	stopgain	NMRK1:NM_001127603:exon3:c.C70T:p.Q24X,NMRK1:NM_017881:exon3:c.C70T:p.Q24X,NMRK1:NM_001330678:exon4:c.C82T:p.Q28X,NMRK1:NM_001330679:exon4:c.C82T:p.Q28X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000077	0.52346	D	0.132235	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.197	0.21710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.504217	0.94413	D	0.486496	0.94335	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	8.627221	0.97806	38	0.99819464100392286	0.90238	0.67138	0.33324	D	AEFCI	0.153157	0.27797	N	0.989876260535286	0.95425	13.60715	0.863088741057718	0.93755	12.25886	0.99999894393074	0.74766	0.743674	0.98306	0	0.630245	0.54622	0	0.630245	0.45026	0	0.584449	0.35598	0	.	.	6.06	6.06	0.98340	1.819000	0.38660	7.384000	0.58471	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.8556:0.1444	14.849	0.69914	746	0.52331	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	19	chr9	75077540	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=163;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,946	6	1	0	0
chr9	76708003	76708003	A	G	exonic	PRUNE2	.	nonsynonymous SNV	PRUNE2:NM_001308047:exon8:c.T4271C:p.L1424P,PRUNE2:NM_001308048:exon8:c.T4271C:p.L1424P,PRUNE2:NM_015225:exon8:c.T4271C:p.L1424P	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	.	0.0005	0.00179712	0.0006	0.0004	0.0011	0	0	0.0007	0.0011	0.0003	0.0005757	89	154602	rs189966394	0.0005	0.0005	0.0005	0.0006	0.0055	0.0005	0.0005	0.0040	0.0035	0.0006	0.0016	0.0019	0	0	0.0055	0.0004	0.0015	0.0005	0.0011	0.0011	0.0010	0.0012	0.0056	0.0009	0.0009	0.0047	0.0043	0.0005	0	0.0056	0.0012	0	0	0.0102	0.0005	0.0052	0.0012	0.188	0.21304	T	0.234	0.26386	T	0.105	0.25993	B	0.042	0.24114	B	0.544756	0.11499	N	0.706764	0.999961	0.18878	N	1.81	0.47622	L	0.36	0.57880	T	-2.29	0.50992	N	0.338	0.37923	-1.0529	0.13601	T	0.048	0.20395	T	10	0.0045550764	0.00094	T	.	.	.	0.249	0.55752	.	.	0.360961692134	0.35713	0.2745534859129065	0.27368	0.145096573638	0.16401	0.218930855393	0.01249	T	0.006717	0.21464	T	-0.289094	0.09728	T	-0.223418	0.52406	T	0.00788120997306854	0.00093	T	0.529047	0.17505	T	0.14368117	0.33013	0.13607618	0.32563	0.14368117	0.33013	0.13607618	0.32562	-4.588	0.32020	T	.	.	0.095	0.14842	B	.;.;.	.;.;.	0.393960	0.07656	4.323	0.90570007146730847	0.19824	0.08616	0.14520	N	AEFBCI	0.101035	0.20301	N	-0.956588022208863	0.09546	0.4522319	-1.0015258764065	0.09752	0.4870045	0.999583062797159	0.40607	0.638212	0.43195	0	0.596491	0.49125	0	0.653264	0.51672	0	0.616125	0.45549	0	.	.	5.29	-0.048	0.13170	0.127000	0.15617	1.215000	0.24935	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.042000	0.14466	0.5815:0.0:0.2936:0.1249	5.104	0.14107	921	0.19240	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011581	0.050505	0.008152	0.005848	0.000000	0.000000	0.006098	0.000000	0.07143	116.44	50	chr9	76708003	.	A	G	116.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.465;DP=466;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=0.366;SOR=0.223	GT:AD:DP:GQ:PL	0/0:107,0:107:99:0,120,1800	6	0	1	0
chr9	76708790	76708790	C	T	exonic	PRUNE2	.	nonsynonymous SNV	PRUNE2:NM_001308047:exon8:c.G3484A:p.E1162K,PRUNE2:NM_001308048:exon8:c.G3484A:p.E1162K,PRUNE2:NM_015225:exon8:c.G3484A:p.E1162K	.	.	.	.	.	.	.	.	.	.	.	3897950	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.127	0.0451605441588	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1286143216	4.105e-06	4.104e-06	2.723e-06	5.501e-06	3.478e-05	1.48e-06	9.7e-07	9.24e-06	4.56e-06	2.987e-05	0	0	0	0	0	1.799e-06	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.15	0.32461	T	0.983	0.60381	D	0.306	0.41250	B	0.000018	0.62929	D	0.000000	0.999108	0.21619	N	2.275	0.64647	M	0.09	0.61443	T	-2.34	0.51811	N	0.589	0.60918	-0.9060	0.47332	T	0.184	0.53240	T	10	0.56094867	0.64784	D	0.045161	0.61848	D	0.205	0.49236	0.198	0.11110	0.68520084859	0.68251	0.211733937665082	0.21089	0.440588710916	0.44061	0.407256066799	0.26077	T	0.014167	0.22806	T	-0.00481167	0.50987	T	-0.147834	0.59435	T	0.66737300157547	0.39221	D	0.90001	0.65253	D	0.34907147	0.56994	0.27601907	0.53543	0.34907147	0.56994	0.27601907	0.53542	-3.974	0.23413	T	.	.	0.133	0.28807	B	.;.;.	.;.;.	3.189814	0.43335	21.7	0.99663057274965383	0.78074	0.60171	0.31120	D	AEFDBCI	0.107948	0.21491	N	0.0144683067049533	0.42513	2.562926	0.0402142871881247	0.41602	2.502079	0.999244084471061	0.38873	0.638212	0.43195	0	0.563428	0.19063	0	0.653264	0.51672	0	0.586402	0.36253	0	.	.	6.08	6.08	0.98982	2.242000	0.42756	5.979000	0.52135	0.599000	0.40250	0.913000	0.31760	1.000000	0.68203	0.007000	0.07825	0.0:0.8804:0.0:0.1196	11.594	0.50216	935	0.14827	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	142.44	50	chr9	76708790	.	C	T	142.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.967;DP=521;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-0.431;SOR=1.329	GT:AD:DP:GQ:PL	0/0:107,0:107:99:0,120,1800	6	0	1	0
chr9	77316303	77316303	A	G	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon38:c.A4643G:p.Y1548C,VPS13A:NM_001018038:exon39:c.A4760G:p.Y1587C,VPS13A:NM_015186:exon39:c.A4760G:p.Y1587C,VPS13A:NM_033305:exon39:c.A4760G:p.Y1587C	Choreoacanthocytosis, Autosomal recessive	2	1514	6	0	0	6	0.00197759	.	.	.	441349	not_specified|Chorea-acanthocytosis|not_provided	MedGen:CN169374|MONDO:MONDO:0008695,MedGen:C0393576,OMIM:200150,Orphanet:2388|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.069	.	0.0061	0.00319489	0.0044	0.0017	0.0010	0.0001	0.0014	0.0065	0.0033	0.0031	0.0047089	728	154602	rs149840356	0.0086	0.0086	0.0089	0.0083	0.0103	0.0085	0.0084	0.0101	0.0101	0.0013	0.0012	0.0064	0	0.0020	0.0012	0.0103	0.0068	0.0038	0.0053	0.0053	0.0057	0.0048	0.0095	0.0050	0.0048	0.0089	0.0086	0.0016	0	0.0023	0.0037	0	0.0014	0	0.0095	0.0028	0.0041	0.126	0.27663	T	0.093	0.39954	T	0.0	0.02946	B	0.001	0.08700	B	0.555016	0.11395	N	0.805247	1	0.08975	N	-0.51	0.02586	N	0.95	0.43279	T	-0.99	0.27876	N	0.289	0.35194	-1.0332	0.19427	T	0.027	0.11618	T	10	0.0065418184	0.00148	T	.	.	.	0.069	0.20116	.	.	0.403469152278	0.39964	0.6182861765832758	0.61761	0.162420817521	0.18320	0.249313220382	0.03696	T	0.280844	0.65356	T	-0.560341	0.00252	T	-0.569706	0.15476	T	0.00451180318300457	0.00048	T	0.789321	0.42944	T	0.06427054	0.13619	0.054362636	0.09337	0.06039746	0.12387	0.07859545	0.17619	-5.936	0.46163	T	.	.	0.052	0.00203	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.152926	0.27425	17.46	0.88483306851955223	0.18012	0.20578	0.21093	N	AEFGHCI	0.028847	0.02616	N	-0.887458487951972	0.11140	0.5360051	-0.73298904044958	0.16142	0.8524755	0.00850442593376431	0.11689	0.706298	0.61202	0	0.708844	0.79440	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.24	1.22	0.20300	2.709000	0.46828	0.178000	0.15598	-0.050000	0.17177	1.000000	0.71638	0.059000	0.21998	0.991000	0.66497	0.2169:0.0:0.395:0.3881	4.759	0.12472	868	0.31772	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	463.46	33	chr9	77316303	.	A	G	463.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.164;DP=237;ExcessHet=0;FS=5.218;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.36;ReadPosRankSum=-2.881;SOR=0.419	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1023	6	0	1	0
chr9	77339759	77339759	G	C	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon47:c.G6505C:p.V2169L,VPS13A:NM_001018038:exon48:c.G6622C:p.V2208L,VPS13A:NM_015186:exon48:c.G6622C:p.V2208L,VPS13A:NM_033305:exon48:c.G6622C:p.V2208L	Choreoacanthocytosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3719642	Chorea-acanthocytosis	MONDO:MONDO:0008695,MedGen:C0393576,OMIM:200150,Orphanet:2388	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.146	0.0117795538638	0.0002	.	4.119e-05	0.0004	8.637e-05	0	0	0	0	0	3.23e-05	5	154602	rs150740645	6.841e-06	6.84e-06	8.168e-06	5.501e-06	0.0001	3.46e-06	2.52e-06	3.982e-05	2.373e-05	0.0001	2.236e-05	0	0	0	0	8.993e-07	3.312e-05	2.319e-05	0.0001	0.0001	0.0001	0.0001	0.0004	8.171e-05	6.727e-05	0.0003	0.0002	0.0004	0	6.547e-05	0	0	0	0	0	0	0	0.096	0.31532	T	0.192	0.45961	T	0.041	0.25584	B	0.067	0.30104	B	0.201392	0.16591	N	0.609310	0.999209	0.21509	N	1.53	0.38800	L	1.03	0.46777	T	-1.7	0.41046	N	0.135	0.29313	-0.9697	0.37262	T	0.131	0.44188	T	10	0.08860928	0.15274	T	0.01178	0.29743	T	0.146	0.38789	.	.	0.285316908763	0.28143	0.24696549058635495	0.24610	0.134183297464	0.15117	0.383172005415	0.22705	T	0.271	0.64340	T	-0.428297	0.01518	T	-0.484245	0.23997	T	0.0171307952605705	0.00458	T	0.89841	0.64815	D	0.06889777	0.15049	0.102289855	0.24512	0.06889777	0.15049	0.102289855	0.24511	-4.409	0.43959	T	.	.	0.179	0.39047	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.029014	0.14089	10.66	0.96251605912455884	0.29186	0.58727	0.30720	D	AEFBI	0.170922	0.29786	N	-0.420122285517372	0.24765	1.339494	-0.3683149602084	0.25948	1.430147	0.00186693373175921	0.08957	0.732398	0.92422	0	0.743671	0.97443	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	5.96	0.955	0.18725	-0.132000	0.10446	-1.135000	0.06226	0.618000	0.50648	0.529000	0.27181	0.000000	0.08366	1.000000	0.97212	0.5327:0.0:0.4673:0.0	10.079	0.41548	624	0.65661	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1745.44	39	chr9	77339759	.	G	C	1745.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.46;DP=389;ExcessHet=0;FS=2.652;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=0.737;SOR=0.522	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1242	6	0	1	0
chr9	78251976	78251976	G	T	exonic	CEP78	.	nonsynonymous SNV	CEP78:NM_001098802:exon9:c.G1141T:p.A381S,CEP78:NM_001330691:exon9:c.G1138T:p.A380S,CEP78:NM_001330693:exon9:c.G1138T:p.A380S,CEP78:NM_001330694:exon9:c.G1138T:p.A380S,CEP78:NM_001349838:exon9:c.G1138T:p.A380S,CEP78:NM_001349839:exon9:c.G1141T:p.A381S,CEP78:NM_001349840:exon9:c.G1141T:p.A381S,CEP78:NM_032171:exon9:c.G1141T:p.A381S	Cone-rod dystrophy and hearing loss, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1943791	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	0.00596844036698	8.3e-05	.	6.141e-05	0.0005	0.0002	0	0	0	0	0	3.88e-05	6	154602	rs182745565	6.185e-06	6.156e-06	6.836e-06	5.528e-06	0.0001	2.91e-06	2.11e-06	5.856e-05	3.762e-05	0.0001	2.253e-05	0	0	0	0	9.03e-07	1.665e-05	1.172e-05	0.0001	0.0001	0.0001	0.0001	0.0004	8.662e-05	7.254e-05	0.0003	0.0002	0.0004	0	0.0001	0	0	0	0	0	0	0	0.52	0.07594	T	0.322	0.21210	T	0.004	0.22733	B	0.001	0.18140	B	0.029687	0.25417	N	0.403557	1	0.08975	N	0	0.06538	N	1.79	0.25678	T	0.81	0.02442	N	0.125	0.17002	-1.0139	0.25688	T	0.029	0.12453	T	10	0.027872562	0.00926	T	0.005968	0.15579	T	0.033	0.08068	.	.	0.262662153117	0.25859	0.18036130402111727	0.17955	0.0150787792604	0.01433	0.282303452492	0.07816	T	0.019226	0.15359	T	-0.526546	0.00403	T	-0.67605	0.07227	T	0.0115654496665437	0.00175	T	0.844715	0.54241	T	0.017290775	0.00260	0.02809413	0.01015	0.017290775	0.00260	0.02809413	0.01015	-2.975	0.09914	T	0.09601845457001558	0.06600	0.083	0.10256	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	0.943263	0.13190	9.691	0.89214508290491379	0.18606	0.64659	0.32479	D	AEFGBI	0.116301	0.22831	N	-0.935991464037209	0.10009	0.4763248	-0.830817103446512	0.13749	0.7149574	0.439947495072728	0.20444	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.86	2.89	0.32713	1.602000	0.36393	2.211000	0.31368	-0.956000	0.02005	0.981000	0.35396	0.971000	0.29754	0.002000	0.04165	0.3353:0.0:0.6647:0.0	9.025	0.35384	963	0.08280	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	877.53	38	chr9	78251976	.	G	T	877.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.656;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-0.646;SOR=0.627	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1028	6	0	1	0
chr9	81993974	81993974	C	A	exonic	SPATA31D1	.	nonsynonymous SNV	SPATA31D1:NM_001001670:exon4:c.C3504A:p.S1168R	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0027	0.00259585	0.0010	0.0107	0.0009	0	0	0.0001	0.0011	0	0.0009056	140	154602	rs200318604	0.0003	0.0003	0.0004	0.0003	0.0104	0.0003	0.0003	0.0095	0.0092	0.0104	0.0007	0	0	0	0.0005	5.397e-05	0.0009	9.275e-05	0.0030	0.0030	0.0031	0.0028	0.0102	0.0027	0.0026	0.0094	0.0091	0.0102	0	0.0010	0	0	0	0	7.349e-05	0.0028	0.0002	0.029	0.45756	D	0.029	0.54541	D	0.395	0.34724	B	0.1	0.30674	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	3.32	0.06214	T	-1.26	0.31778	N	0.139	0.13769	-0.9548	0.40131	T	0.008	0.02801	T	9	0.0045711994	0.00095	T	.	.	.	0.009	0.00846	0.33	0.31519	0.143124449307	0.13826	0.09651886701953749	0.09583	.	.	0.322959303856	0.13869	T	0.003366	0.02768	T	-0.64887	0.00074	T	-0.6973	0.05974	T	0.00791377463802117	0.00093	T	0.433057	0.11799	T	0.07213007	0.16023	0.065654285	0.13339	0.07213007	0.16023	0.065654285	0.13338	-4.655	0.32855	T	.	.	0.302	0.53119	B	.	.	0.533371	0.09019	5.803	0.57509889115980373	0.05785	0.02977	0.07825	N	AEFBHCI	0.031355	0.03337	N	-1.08678749981972	0.06885	0.3182832	-1.21007364767154	0.05747	0.2747129	1.35127458274603E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.75	-0.382	0.11860	-0.232000	0.09068	-5.799000	0.01592	-1.101000	0.01509	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2394:0.4714:0.0:0.2892	2.367	0.04057	921	0.19240	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004073	0.000000	0.005435	0.011834	0.000000	0.000000	0.006289	0.000000	0.07143	1597.45	46	chr9	81993974	.	C	A	1597.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.483;DP=433;ExcessHet=0;FS=1.316;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=1.28;SOR=0.76	GT:AD:DP:GQ:PL	0/0:87,0:87:99:0,120,1800	6	0	1	0
chr9	85632679	85632679	C	A	exonic	AGTPBP1	.	nonsynonymous SNV	AGTPBP1:NM_001286715:exon13:c.G2154T:p.R718S,AGTPBP1:NM_001286717:exon13:c.G2034T:p.R678S,AGTPBP1:NM_001330701:exon14:c.G1998T:p.R666S,AGTPBP1:NM_015239:exon14:c.G1878T:p.R626S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.0709317087445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.006	0.72224	D	0.925	0.90584	P	0.743	0.75477	P	0.000000	0.84330	D	0.000000	0.99991	0.81001	D	2.965	0.85198	M	2.11	0.19860	T	-4.83	0.80943	D	0.879	0.88246	-0.5995	0.64838	T	0.261	0.63242	T	10	0.79205155	0.78746	D	0.070932	0.71135	D	0.342	0.66392	0.507	0.60232	0.432154444652	0.42834	0.8077151008729652	0.80726	1.78073540629	0.91395	0.766228675842	0.76858	T	0.462215	0.79867	T	0.211448	0.74965	D	0.0659535	0.74641	D	0.986129224300385	0.76925	D	0.956304	0.84742	D	0.8134558	0.84782	0.55320054	0.74162	0.8134558	0.84784	0.55320054	0.74163	-9.914	0.74745	D	.	.	0.998	0.97238	P	.;.;.;.	.;.;.;.	2.962293	0.39457	21.0	0.99661978750085467	0.78011	0.96723	0.70595	D	AEFGBI	0.519372	0.54468	D	0.356961598407992	0.59109	4.087593	0.297175822973728	0.55373	3.700519	0.39429635169474	0.20074	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.633917	0.49826	0	.	.	6.03	2.69	0.30923	0.577000	0.23461	-0.007000	0.13116	-0.190000	0.09434	0.999000	0.42656	0.791000	0.26863	0.941000	0.48210	0.0:0.6312:0.0:0.3688	9.777	0.39791	757	0.50970	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	21	chr9	85632679	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=187;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1048	6	1	0	0
chr9	85996522	85996522	A	G	exonic	NAA35	.	nonsynonymous SNV	NAA35:NM_001321881:exon12:c.A1001G:p.D334G,NAA35:NM_001321882:exon12:c.A1001G:p.D334G,NAA35:NM_024635:exon12:c.A1001G:p.D334G	.	443	1062	16	1	0	18	0.00840336	.	.	.	2130741	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.266	0.00412813974648	.	0.000399361	0.0004	0	0.0009	0	0	0.0003	0.0011	0.0015	0.0003816	59	154602	rs200918536	0.0003	0.0003	0.0003	0.0004	0.0040	0.0003	0.0003	0.0026	0.0022	3.042e-05	0.0006	0	0	1.875e-05	0.0040	0.0002	0.0005	0.0019	0.0003	0.0003	0.0002	0.0004	0.0017	0.0002	0.0002	0.0008	0.0006	4.81e-05	0	0.0003	0	0	0	0	0.0004	0.0005	0.0017	0.27	0.16038	T	0.361	0.16914	T	0.0	0.02946	B	0.0	0.01387	B	0.001139	0.40136	N	0.245457	1	0.81001	D	-0.345	0.03330	N	.	.	.	-0.6	0.17834	N	0.44	0.47857	-1.0384	0.17802	T	0.099	0.36907	T	9	0.023888618	0.00639	T	0.004128	0.09900	T	0.266	0.57999	.	.	0.082315109003	0.07666	0.42526214472349183	0.42443	1.04861098365	0.76057	0.693011164665	0.66139	T	0.024197	0.18330	T	-0.289026	0.09733	T	-0.194727	0.55145	T	0.0831616594071622	0.10386	T	0.905509	0.66687	D	0.14046368	0.32407	0.11157277	0.26916	0.14046368	0.32407	0.11157277	0.26915	-3.572	0.17453	T	.	.	0.102	0.17995	B	.	.	3.425352	0.47581	22.5	0.9695499192940833	0.31755	0.99610	0.97961	D	AEFBI	0.838615	0.75611	D	-0.120451476218317	0.36504	2.110838	0.124009134127922	0.45779	2.83513	0.999999833471584	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.18	5.18	0.71140	8.655000	0.90848	11.296000	0.92177	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	15.325	0.73867	889	0.27310	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	684.49	33	chr9	85996522	.	A	G	684.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.821;DP=208;ExcessHet=0;FS=2.621;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=2.2;SOR=0.595	GT:AD:DP:GQ:PL	0/1:17,30:47:99:695,0,361	6	0	1	0
chr9	87887143	87887143	G	C	exonic	SPATA31E1	.	nonsynonymous SNV	SPATA31E1:NM_178828:exon4:c.G2656C:p.E886Q	.	406	1114	2	0	0	2	0.000896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0004	0.00638978	0.0034	0.0006	0.0024	0.0401	0.0008	0.0002	0	0.0010	0.003467	536	154602	rs75241638	0.0015	0.0015	0.0015	0.0015	0.0413	0.0015	0.0015	0.0396	0.0390	0.0003	0.0051	3.826e-05	0.0413	0.0004	0.0005	0.0001	0.0026	0.0008	0.0029	0.0029	0.0024	0.0034	0.0368	0.0027	0.0026	0.0325	0.0308	0.0006	0	0.0118	0	0.0368	0.0007	0	0.0003	0.0043	0.0008	0.404	0.10345	T	0.062	0.45318	T	0.012	0.16265	B	0.02	0.19048	B	0.013658	0.01370	N	2.637330	1	0.08975	N	0.755	0.19153	N	3.79	0.03809	T	-0.55	0.16799	N	0.073	0.04668	-0.9676	0.37693	T	0.004	0.01226	T	10	0.002927065	0.00047	T	.	.	.	0.016	0.02506	.	.	0.0297737177859	0.01360	0.05062613726366736	0.05005	0.0105857679638	0.00974	0.475144505501	0.35390	T	0.002238	0.01633	T	-0.749964	0.00018	T	-0.818631	0.01480	T	0.00297071010429172	0.00031	T	0.278472	0.04815	T	0.044434212	0.07103	0.024509756	0.00472	0.044434212	0.07103	0.024509756	0.00472	-4.205	0.26824	T	.	.	0.135	0.29283	B	.	.	-0.632853	0.01484	0.092	0.37954857355563276	0.02532	0.00088	0.00587	N	AEFDBI	0.023228	0.01266	N	-1.66396091333709	0.00978	0.04236766	-1.79004616320647	0.00792	0.0353185	0.998925874976387	0.37985	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.57	-5.15	0.02648	-1.538000	0.02308	-14.030000	0.00425	-0.782000	0.03316	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2256:0.1655:0.3619:0.247	0.423	0.00428	957	0.09725	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1211.49	36	chr9	87887143	.	G	C	1211.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.033;DP=299;ExcessHet=0;FS=1.565;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=-0.616;SOR=0.893	GT:AD:DP:GQ:PL	0/1:57,51:108:99:1222,0,1375	6	0	1	0
chr9	88131340	88131340	C	T	exonic	SPATA31C2	.	nonsynonymous SNV	SPATA31C2:NM_001166137:exon4:c.G1697A:p.R566H,SPATA31C2:NM_001350978:exon4:c.G1697A:p.R566H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs764116023	1.302e-05	1.3e-05	1.772e-05	8.263e-06	1.529e-05	8.33e-06	6.71e-06	9.31e-06	7.61e-06	0	0	0	0	1.872e-05	0	1.529e-05	1.661e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2412.44	45	chr9	88131340	.	C	T	2412.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.892;DP=397;ExcessHet=0;FS=0.54;MLEAC=1;MLEAF=0.071;MQ=52.78;MQRankSum=-2.894;QD=12.76;ReadPosRankSum=-1.139;SOR=0.617	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr9	89379516	89379516	C	A	exonic	SEMA4D	.	nonsynonymous SNV	SEMA4D:NM_001371194:exon16:c.G1777T:p.V593L,SEMA4D:NM_001371195:exon17:c.G1777T:p.V593L,SEMA4D:NM_001371197:exon17:c.G1777T:p.V593L,SEMA4D:NM_001371196:exon18:c.G1777T:p.V593L,SEMA4D:NM_006378:exon18:c.G1777T:p.V593L	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00337772219152	.	.	2.472e-05	0	0	0	0	0	0.0011	0.0001	1.94e-05	3	154602	rs779970961	8.209e-06	8.209e-06	6.806e-06	9.625e-06	9.275e-05	4.38e-06	3.46e-06	4.578e-05	3.272e-05	0	0	0	0	0	0	3.597e-06	0	9.275e-05	1.971e-05	1.969e-05	0	4.031e-05	0.0004	5.24e-06	2.45e-06	7.299e-05	3.032e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.3	0.14497	T	0.305	0.20037	T	0.0	0.02946	B	0.001	0.04355	B	0.676767	0.10293	N	0.867228	1	0.19363	N	1.17	0.29769	L	1.96	0.22270	T	-0.65	0.18877	N	0.052	0.02861	-0.9912	0.32295	T	0.031	0.13155	T	10	0.044061244	0.03322	T	0.003378	0.07572	T	0.056	0.15993	0.442	0.49811	0.082315109003	0.07666	0.44377151672493514	0.44295	0.235981557682	0.26139	0.30881229043	0.11727	T	0.067392	0.33191	T	-0.448259	0.01156	T	-0.679016	0.07044	T	0.0470688077652842	0.04978	T	0.589541	0.21661	T	0.0934569	0.21950	0.049111467	0.07436	0.0934569	0.21950	0.049111467	0.07435	-3.26	0.13227	T	.	.	0.099	0.16582	B	.;.;.;.	.;.;.;.	1.219978	0.16140	12.34	0.93251265476967538	0.22941	0.23759	0.22179	N	AEFDBCI	0.150443	0.27474	N	-0.787137070839019	0.13645	0.6736646	-0.743646120870504	0.15879	0.837288	0.998656536550379	0.37392	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.9	3.02	0.33970	1.395000	0.34129	1.659000	0.27889	0.599000	0.40250	0.001000	0.13787	0.002000	0.18203	0.214000	0.22296	0.154:0.6908:0.0:0.1552	5.977	0.18617	974	0.05496	Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	38	chr9	89379516	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	1	0	0
chr9	91733329	91733329	G	A	exonic	ROR2	.	nonsynonymous SNV	ROR2:NM_001318204:exon6:c.C730T:p.R244W,ROR2:NM_004560:exon6:c.C730T:p.R244W	Brachydactyly, type B1, Autosomal dominant;Robinow syndrome, autosomal recessive, Autosomal recessive	0	1495	25	2	0	29	0.00960583	.	.	.	195337	not_provided|not_specified|Brachydactyly_type_B1|Autosomal_recessive_Robinow_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0007220,MedGen:C1862112,OMIM:113000,Orphanet:572385,Orphanet:93383|MONDO:MONDO:0009999,MedGen:C5399974,OMIM:268310,Orphanet:1507,Orphanet:97360	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.439	0.362513514246	0.0002	0.000998403	0.0007	0.0008	8.872e-05	0	0	0.0001	0.0012	0.0039	0.0005886	91	154602	rs148340413	0.0004	0.0004	0.0003	0.0005	0.0044	0.0003	0.0003	0.0040	0.0039	0.0008	2.239e-05	0.0009	2.521e-05	0	0.0017	6.297e-05	0.0005	0.0044	0.0004	0.0004	0.0003	0.0006	0.0031	0.0003	0.0003	0.0019	0.0015	0.0008	0	0.0001	0.0012	0	0	0.0136	0.0001	0.0005	0.0031	0.012	0.57480	D	0.017	0.60337	D	0.999	0.77913	D	0.892	0.63276	P	0.001794	0.37998	N	0.000000	0.999954	0.52396	D	2.045	0.56016	M	0.52	0.76948	T	-2.55	0.56787	D	0.61	0.62696	0.005	0.82359	D	0.484	0.80340	T	10	0.01230076	0.00265	T	0.362514	0.92547	D	0.439	0.74306	.	.	0.859866251809	0.85851	0.838114866016235	0.83771	0.698091119569	0.60947	0.704073190689	0.67733	T	0.250856	0.82480	T	-0.125074	0.32295	T	0.047419	0.73414	D	0.0529465971764733	0.06009	T	0.968203	0.88468	D	0.2898495	0.51979	0.25258657	0.50890	0.42745498	0.62586	0.27057996	0.52949	-12.157	0.85608	D	0.5981406214832092	0.66508	0.11	0.26419	B	.;.	.;.	4.396289	0.67894	25.2	0.99904933528149709	0.97576	0.31554	0.24366	N	AEFDBI	0.618170	0.60408	D	0.117291549978265	0.47271	2.955036	0.0196603351604151	0.40628	2.427744	0.0295610579357581	0.13893	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.44	2.38	0.28415	0.315000	0.19200	2.207000	0.31336	0.586000	0.30580	0.001000	0.13787	0.264000	0.24003	0.682000	0.33600	0.0:0.0:0.7148:0.2852	14.043	0.64208	815	0.41851	Frizzled domain|Frizzled domain;Frizzled domain|Frizzled domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002523	0.000000	0.001359	0.005848	0.000000	0.008621	0.000000	0.003817	0.07143	1602.44	46	chr9	91733329	.	G	A	1602.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.382;DP=378;ExcessHet=0;FS=0.607;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=-0.243;SOR=0.79	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,102,1530:.	6	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4599.95	248	chr9	92080918	.	G	C	4599.95	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-2.454;DP=1972;ExcessHet=14.2834;FS=456.727;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.56;ReadPosRankSum=0.555;SOR=12.059	GT:AD:DP:GQ:PL	0/1:226,163:406:99:1055,0,3516	0	0	7	0
chr9	92268247	92268247	C	T	exonic	IARS1	.	nonsynonymous SNV	IARS1:NM_001374299:exon14:c.G1358A:p.R453H,IARS1:NM_001374300:exon14:c.G1358A:p.R453H,IARS1:NM_001374301:exon14:c.G1358A:p.R453H,IARS1:NM_001378569:exon14:c.G1421A:p.R474H,IARS1:NM_001378571:exon14:c.G1379A:p.R460H,IARS1:NM_001378572:exon14:c.G1358A:p.R453H,IARS1:NM_001378573:exon14:c.G1358A:p.R453H,IARS1:NM_001378577:exon14:c.G1358A:p.R453H,IARS1:NM_001378578:exon14:c.G1358A:p.R453H,IARS1:NM_001378579:exon14:c.G1358A:p.R453H,IARS1:NM_001378582:exon14:c.G1358A:p.R453H,IARS1:NM_001378583:exon14:c.G1235A:p.R412H,IARS1:NM_001378584:exon14:c.G1358A:p.R453H,IARS1:NM_001378585:exon14:c.G1358A:p.R453H,IARS1:NM_001378586:exon14:c.G1358A:p.R453H,IARS1:NM_002161:exon14:c.G1358A:p.R453H,IARS1:NM_013417:exon14:c.G1358A:p.R453H,IARS1:NM_001378574:exon15:c.G1358A:p.R453H,IARS1:NM_001378575:exon15:c.G1358A:p.R453H,IARS1:NM_001378576:exon15:c.G1358A:p.R453H,IARS1:NM_001378580:exon15:c.G1358A:p.R453H	.	429	1091	1	1	0	3	0.001373	.	.	.	626190	Growth_retardation,_intellectual_developmental_disorder,_hypotonia,_and_hepatopathy|not_provided	MONDO:MONDO:0014911,MedGen:C4310720,OMIM:617093,Orphanet:541423|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.073	0.0235337561194	.	0.000998403	0.0008	0	0.0002	0	0	4.496e-05	0.0033	0.0057	0.0006986	108	154602	rs570962385	0.0004	0.0004	0.0002	0.0006	0.0060	0.0003	0.0003	0.0055	0.0054	2.995e-05	0	0	0.0002	0	0.0009	9.897e-06	0.0002	0.0060	0.0002	0.0002	3.854e-05	0.0003	0.0046	0.0001	8.71e-05	0.0031	0.0026	0	0	0	0	0	0	0	1.47e-05	0	0.0046	0.113	0.34269	T	0.141	0.33442	T	0.054	0.22658	B	0.073	0.28123	B	0.000007	0.62929	N	0.148106	1	0.81001	D	1.515	0.38264	L	1.78	0.25678	T	-3.25	0.65283	D	0.414	0.46555	-1.0838	0.06628	T	0.066	0.27156	T	10	0.022054732	0.00541	T	0.023534	0.46505	T	0.073	0.21317	0.628	0.76366	0.31501682445	0.31101	0.7395526666740663	0.73900	0.15527917004	0.17530	0.451471626759	0.32145	T	0.40213	0.75924	T	-0.526656	0.00402	T	-0.527501	0.19537	T	0.115462177042962	0.13981	T	0.933007	0.74900	D	0.0889349	0.20763	0.12902352	0.31031	0.10052337	0.23737	0.13808978	0.32988	-8.794	0.66361	D	.	.	0.103	0.18580	B	.;.;.	.;.;.	2.889152	0.38257	20.7	0.99054215842359528	0.51321	0.84615	0.43699	D	AEFBCI	0.142811	0.26534	N	-0.322035103051441	0.28313	1.560611	-0.221302402650073	0.30773	1.735616	0.955260418254957	0.28179	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.96	2.01	0.25568	3.347000	0.51915	-0.232000	0.10668	-0.176000	0.10722	0.997000	0.40164	0.003000	0.18671	0.992000	0.67800	0.0:0.7467:0.0:0.2533	10.743	0.45361	946	0.12043	Aminoacyl-tRNA synthetase, class Ia;Aminoacyl-tRNA synthetase, class Ia;Aminoacyl-tRNA synthetase, class Ia	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	529.83	33	chr9	92268247	.	C	T	529.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.03;DP=181;ExcessHet=0;FS=1.243;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=1.21;SOR=1.127	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,908	6	0	1	0
chr9	92474742	92474742	-	TCCTCATCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon3:c.152_153insTGATGAGGA:p.D50_E51insDDE,ASPN:NM_017680:exon3:c.152_153insTGATGAGGA:p.D50_E51insDDE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1491116407	0.0006	0.0006	0.0006	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0002	0.0004	0.0002	2.652e-05	3.958e-05	0.0004	0.0007	0.0004	2.448e-05	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0.0002	0	0.0001	0	0	0	0	0.0007	0.0015	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	10092.2	56	chr9	92474742	.	C	CTCCTCATCA	10092.2	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.405;DP=629;ExcessHet=1.1394;FS=0.954;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=27.57;ReadPosRankSum=0.448;SOR=0.631	GT:AD:DP:GQ:PL	0/0:1,0:79:99:2798,2893,3116	6	0	1	0
chr9	94097755	94097755	G	T	exonic	PTPDC1	.	nonsynonymous SNV	PTPDC1:NM_001253829:exon6:c.G1189T:p.V397L,PTPDC1:NM_152422:exon6:c.G1183T:p.V395L,PTPDC1:NM_001253830:exon7:c.G1027T:p.V343L,PTPDC1:NM_177995:exon7:c.G1027T:p.V343L	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00348884610119	0.0005	.	0.0002	0	0	0	0	0.0004	0	0	0.0002264	35	154602	rs149978079	0.0002	0.0002	0.0002	0.0003	0.0009	0.0002	0.0002	0.0003	0.0002	2.987e-05	8.944e-05	0.0052	0	3.745e-05	0.0009	0.0001	0.0007	0	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	8.876e-05	0	0	0.0001	0.0037	0	0	0	0.0002	0.0005	0	0.383	0.11085	T	0.751	0.05786	T	0.002	0.09854	B	0.001	0.08700	B	0.509895	0.05141	N	1.210480	1	0.08975	N	0.895	0.22405	L	2.75	0.11622	T	-0.35	0.13418	N	0.047	0.01911	-0.9503	0.40920	T	0.019	0.07846	T	10	0.0035221577	0.00063	T	0.003489	0.07908	T	0.011	0.01250	0.18	0.08751	0.132336055621	0.12781	0.19289980335789048	0.19207	0.128429936232	0.14478	0.23697540164	0.02524	T	0.011618	0.11431	T	-0.603165	0.00140	T	-0.834881	0.01179	T	0.0139241608688705	0.00266	T	0.694731	0.30434	T	0.033091936	0.03459	0.028438801	0.01081	0.033091936	0.03458	0.028438801	0.01081	-2.609	0.06572	T	.	.	0.098	0.18206	B	.;.;.;.	.;.;.;.	-0.198942	0.03094	0.489	0.69780055406670238	0.09082	0.14923	0.18655	N	AEFGBCI	0.058012	0.10853	N	-1.13216318009671	0.06078	0.2788582	-1.10686664743485	0.07568	0.3686369	0.999887927403619	0.44867	0.660377	0.49826	0	0.670034	0.63936	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	6.17	1.28	0.20656	-0.336000	0.07908	0.804000	0.21687	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.152000	0.20376	0.4342:0.0:0.4362:0.1296	5.429	0.15742	870	0.31527	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1357.46	34	chr9	94097755	.	G	T	1357.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.414;DP=279;ExcessHet=0;FS=0.777;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=0.993;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,102,1303:.	6	0	1	0
chr9	94567343	94567343	C	T	exonic	FBP2	.	nonsynonymous SNV	FBP2:NM_003837:exon5:c.G632A:p.S211N	.	420	1078	24	0	0	24	0.0110092	.	.	.	1291939	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.786	0.264523765677	0.0049	0.00219649	0.0049	0.0006	0.0032	0.0001	0.0017	0.0072	0.0099	0.0029	0.0048641	752	154602	rs61755092	0.0060	0.0060	0.0059	0.0060	0.0180	0.0058	0.0058	0.0152	0.0142	0.0012	0.0041	0.0067	2.519e-05	0.0018	0.0180	0.0067	0.0062	0.0032	0.0051	0.0051	0.0055	0.0047	0.0082	0.0048	0.0047	0.0076	0.0074	0.0012	0	0.0061	0.0081	0	0.0013	0.0102	0.0082	0.0080	0.0035	0.012	0.54683	D	0.01	0.65728	D	0.925	0.51395	P	0.756	0.56253	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.635	0.94052	H	-1.06	0.76819	T	-2.88	0.60507	D	0.925	0.92901	0.463	0.90023	D	0.592	0.85425	D	10	0.07704571	0.12111	T	0.264524	0.89639	D	0.786	0.92908	.	.	0.899524071798	0.89852	0.8972708646526822	0.89698	0.538909183156	0.51137	0.646869003773	0.59541	T	0.690878	0.91011	D	-0.248522	0.14281	T	-0.119373	0.61855	T	0.0570662658978449	0.06698	T	0.939106	0.77081	D	0.86085653	0.88151	0.5041288	0.71337	0.86085653	0.88153	0.5041288	0.71337	-13.102	0.89778	D	.	.	0.990	0.93631	P	.	.	4.692326	0.75201	26.3	0.99407335652157547	0.63122	0.97903	0.78000	D	AEFBI	0.950494	0.96418	D	0.840098062821124	0.88536	9.615741	0.790398461049065	0.89117	9.845452	0.999999999502144	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.536957	0.11973	0	0.530356	0.10902	0	.	.	5.15	5.15	0.70287	7.713000	0.83653	7.548000	0.60216	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.622	0.91282	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015609	0.025253	0.017663	0.017544	0.050000	0.025862	0.009146	0.000000	0.1429	1782.27	34	chr9	94567343	.	C	T	1782.27	.	AC=2;AF=0.143;AN=14;DP=239;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=27.85;SOR=0.756	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1107	6	1	0	0
chr9	95467406	95467406	A	G	exonic	PTCH1	.	nonsynonymous SNV	PTCH1:NM_001354918:exon14:c.T2114C:p.F705S,PTCH1:NM_000264:exon15:c.T2270C:p.F757S,PTCH1:NM_001083602:exon15:c.T2072C:p.F691S,PTCH1:NM_001083603:exon15:c.T2267C:p.F756S,PTCH1:NM_001083604:exon15:c.T1817C:p.F606S,PTCH1:NM_001083605:exon15:c.T1817C:p.F606S,PTCH1:NM_001083606:exon15:c.T1817C:p.F606S,PTCH1:NM_001083607:exon15:c.T1817C:p.F606S	Basal cell carcinoma, somatic;Basal cell nevus syndrome, Autosomal dominant;Holoprosencephaly 7, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	YES	240674	Basal_cell_nevus_syndrome_1|Basal_cell_carcinoma,_susceptibility_to,_1|Holoprosencephaly_7|not_provided|PTCH1-related_disorder|Gorlin_syndrome|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0958174,MedGen:CN376810,OMIM:109400|MONDO:MONDO:0011556,MedGen:C2751544,OMIM:605462|MONDO:MONDO:0012562,MedGen:C1835820,OMIM:610828,Orphanet:2162|MedGen:C3661900|.|MONDO:MONDO:0007187,MedGen:C0004779,OMIM:PS109400,Orphanet:377|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.876	0.307613213061	.	0.00119808	0.0004	0	0	0	0	3.03e-05	0.0011	0.0030	0.0003881	60	154602	rs547954117	0.0002	0.0002	0.0001	0.0002	0.0027	0.0002	0.0002	0.0024	0.0023	0	0	0	0	0	0.0012	5.396e-06	0.0002	0.0027	9.848e-05	9.842e-05	3.855e-05	0.0002	0.0029	6.002e-05	4.876e-05	0.0018	0.0014	0	0	0	0	0	0	0	1.47e-05	0	0.0029	0.016	0.53900	D	0.002	0.79402	D	0.771	0.60733	P	0.444	0.56004	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.47	0.71715	M	-2.18	0.86722	D	-5.83	0.89985	D	0.888	0.99015	0.534	0.91023	D	0.710	0.90035	D	10	0.098285735	0.17760	T	0.307613	0.91084	D	0.876	0.96317	0.793	0.91438	0.748426123148	0.74615	0.8726757282460414	0.87233	1.75645652472	0.91059	0.856840848923	0.90642	D	0.822491	0.95674	D	0.0902269	0.63215	D	0.352213	0.90402	D	0.165118882484904	0.18242	T	0.822218	0.48435	T	0.8650657	0.88475	0.6702785	0.80654	0.8650657	0.88476	0.6702785	0.80655	-9.988	0.82110	D	0.37847853586227226	0.47320	0.775	0.83224	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.748109	0.76647	26.6	0.9984527808802004	0.92489	0.99465	0.96365	D	AEFDBI	0.818646	0.73985	D	0.636453508184365	0.75495	6.316049	0.630600119171971	0.77173	6.628679	0.999999652491708	0.74766	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.491896	0.07777	0	.	.	5.49	4.28	0.50183	7.020000	0.76158	9.186000	0.79105	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.8574:0.1426:0.0:0.0	12.178	0.53505	358	0.85037	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	730.63	37	chr9	95467406	.	A	G	730.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.855;DP=260;ExcessHet=0;FS=1.041;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-0.475;SOR=0.547	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	6	0	1	0
chr9	96760122	96760122	A	C	exonic	ZNF510	.	nonsynonymous SNV	ZNF510:NM_001314060:exon5:c.T522G:p.N174K,ZNF510:NM_001314059:exon6:c.T708G:p.N236K,ZNF510:NM_014930:exon6:c.T708G:p.N236K	.	520	997	5	0	0	5	0.00250125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0030	0.00259585	0.0034	0.0014	0.0136	0	0	0.0033	0.0022	0.0012	0.0033764	522	154602	rs61735010	0.0042	0.0042	0.0043	0.0041	0.0101	0.0041	0.0041	0.0093	0.0090	0.0007	0.0101	0.0017	0	0.0004	0.0016	0.0047	0.0043	0.0012	0.0028	0.0028	0.0031	0.0025	0.0044	0.0026	0.0025	0.0039	0.0038	0.0013	0	0.0042	0.0009	0	0.0002	0	0.0044	0.0024	0.0006	0.142	0.25457	T	0.173	0.30143	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.365	0.12025	N	3.44	0.05375	T	-1.2	0.30555	N	0.049	0.02088	-0.9415	0.42378	T	0.007	0.02518	T	9	0.0055224895	0.00122	T	.	.	.	0.016	0.02506	0.261	0.20473	0.264081493735	0.26024	0.017715430551530204	0.01726	0.179925730658	0.20241	0.256786078215	0.04516	T	0.006439	0.05872	T	-0.761065	0.00015	T	-0.855605	0.00892	T	0.000713611186763029	0.00006	T	0.125387	0.00975	T	0.06302403	0.13228	0.06268036	0.12302	0.06302403	0.13227	0.06268036	0.12301	-4.879	0.35498	T	.	.	0.179	0.44605	B	.;.	.;.	1.091295	0.14752	11.29	0.66503851692972349	0.08078	0.00200	0.01150	N	AEGBCI	0.060798	0.11579	N	-1.06115464834735	0.07369	0.3421651	-1.10706403557351	0.07565	0.3684346	0.00106228185871769	0.08183	0.562547	0.31514	0	0.653731	0.59785	0	0.446627	0.06593	0	0.491896	0.07777	0	.	.	3.57	-0.237	0.12417	-1.201000	0.03135	-3.265000	0.02923	0.750000	0.87069	0.000000	0.06391	0.000000	0.08366	0.478000	0.28520	0.5651:0.0:0.1006:0.3343	3.691	0.07880	766	0.49742	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	844.46	37	chr9	96760122	.	A	C	844.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.644;DP=231;ExcessHet=0;FS=2.093;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=1.24;SOR=0.465	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1150	6	0	1	0
chr9	96819368	96819368	C	G	exonic	ZNF782	.	nonsynonymous SNV	ZNF782:NM_001346993:exon4:c.G583C:p.E195Q,ZNF782:NM_001346995:exon4:c.G259C:p.E87Q,ZNF782:NM_001346991:exon5:c.G655C:p.E219Q,ZNF782:NM_001001662:exon6:c.G655C:p.E219Q	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	0.0025	0.00299521	0.0009	0.0101	0.0003	0	0	0	0	0.0001	0.0008473	131	154602	rs146614973	0.0003	0.0003	0.0003	0.0002	0.0099	0.0002	0.0002	0.0090	0.0087	0.0099	0.0002	0	0	0	0.0004	2.708e-06	0.0007	5.951e-05	0.0024	0.0024	0.0025	0.0022	0.0081	0.0022	0.0021	0.0074	0.0071	0.0081	0	0.0010	0	0	0	0	0	0.0033	0	0.226	0.18562	T	0.128	0.34959	T	0.131	0.27154	B	0.04	0.23831	B	.	.	.	.	1	0.08975	N	2.365	0.68172	M	3.39	0.05710	T	-1.5	0.36586	N	0.138	0.14196	-1.0281	0.21070	T	0.072	0.29259	T	9	0.0045059323	0.00093	T	.	.	.	0.006	0.00375	.	.	0.471700387322	0.46796	0.03770031381157914	0.03716	0.163663304052	0.18455	0.203140050173	0.00553	T	0.00693	0.06354	T	-0.647505	0.00075	T	-0.69605	0.06044	T	0.00675168158442152	0.00076	T	0.0862914	0.00633	T	0.058470786	0.11766	0.039803408	0.04157	0.058470786	0.11766	0.039803408	0.04157	-5.248	0.39425	T	.	.	0.096	0.15475	B	.;.	.;.	0.614383	0.09830	6.592	0.72691721423744271	0.10061	0.00017	0.00201	N	AEFGBCI	0.055110	0.10079	N	-0.683176799364532	0.16501	0.841282	-0.82312733280386	0.13936	0.7255741	0.00207169072378055	0.09135	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	3.38	1.53	0.22224	-0.640000	0.05537	-1.974000	0.04407	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.344000	0.25523	0.0:0.7756:0.0:0.2244	7.446	0.26380	757	0.50970	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1207.44	33	chr9	96819368	.	C	G	1207.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.481;DP=293;ExcessHet=0;FS=2.516;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=0.661;SOR=0.626	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1260	6	0	1	0
chr9	97320140	97320140	C	G	exonic	CCDC180	.	nonsynonymous SNV	CCDC180:NM_020893:exon11:c.C1094G:p.P365R,CCDC180:NM_001348010:exon12:c.C1085G:p.P362R	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	.	0.0126	0.0131789	0.0035	0.0387	0.0017	0	0	5.994e-05	0.0011	0.0001	0.0033764	522	154602	rs61261278	0.0011	0.0011	0.0012	0.0009	0.0360	0.0010	0.0010	0.0343	0.0336	0.0360	0.0016	0	0	0	0.0009	9.353e-05	0.0025	0.0001	0.0097	0.0097	0.0106	0.0087	0.0333	0.0093	0.0091	0.0319	0.0313	0.0333	0	0.0035	0	0	0	0	0.0001	0.0118	0.0002	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	0.000838	0.41547	D	0.139512	0.972226	0.38930	D	.	.	.	1.23	0.36872	T	-6.9	0.93293	D	0.574	0.59648	-0.8931	0.48659	T	0.068	0.27845	T	10	0.0042665303	0.00085	T	.	.	.	0.250	0.55888	.	.	0.668895562322	0.66610	0.30165273345532084	0.30078	.	.	0.443944185972	0.31116	T	.	.	.	-0.275671	0.11131	T	-0.141599	0.59979	T	0.0536525708291464	0.06130	T	0.761624	0.38671	T	0.70147955	0.78137	0.6702592	0.80653	0.70147955	0.78138	0.6702592	0.80654	-10.335	0.75893	D	.	.	0.413	0.60291	A	.	.	4.145315	0.62139	24.4	0.98624964172202478	0.43825	0.85684	0.44843	D	AEFI	0.264226	0.38161	N	0.521190482005497	0.68343	5.204289	0.443092555704238	0.64273	4.678925	0.999956581609142	0.48110	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.87	4.87	0.62877	2.330000	0.43544	5.880000	0.50633	0.599000	0.40250	0.964000	0.33853	1.000000	0.68203	0.632000	0.32210	0.0:1.0:0.0:0.0	14.219	0.65356	778	0.48011	Domain of unknown function DUF4455	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.005051	0.002717	0.005848	0.000000	0.017241	0.000000	0.003788	0.07143	1794.63	38	chr9	97320140	.	C	G	1794.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.981;DP=385;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=-0.101;SOR=0.732	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr9	97362278	97362278	C	T	exonic	CCDC180	.	nonsynonymous SNV	CCDC180:NM_020893:exon28:c.C3739T:p.R1247W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	.	0.0033	0.00379393	0.0009	0.0104	0.0003	0	0	1.499e-05	0	0.0001	0.000925	143	154602	rs115326222	0.0003	0.0003	0.0004	0.0003	0.0128	0.0003	0.0003	0.0118	0.0114	0.0128	0.0003	0	0	0	0.0002	8.993e-06	0.0008	6.956e-05	0.0031	0.0031	0.0029	0.0033	0.0106	0.0029	0.0028	0.0098	0.0095	0.0106	0	0.0015	0	0.0002	0	0	2.94e-05	0.0019	0	0.031	0.45039	D	0.004	0.74150	D	.	.	.	.	.	.	0.010111	0.01264	N	2.780080	1	0.08975	N	.	.	.	2.85	0.10578	T	-0.41	0.14000	N	0.156	0.16168	-0.9955	0.31164	T	0.013	0.05081	T	9	0.0036231875	0.00066	T	.	.	.	0.002	0.00045	.	.	0.0954503805726	0.09146	0.13319457455394312	0.13243	.	.	0.170628339052	0.00034	T	.	.	.	-0.757295	0.00016	T	-0.851183	0.00945	T	0.00982056333472796	0.00129	T	0.407359	0.10471	T	0.049658857	0.08852	0.03408172	0.02413	0.049658857	0.08852	0.03408172	0.02412	-5.043	0.37304	T	.	.	0.111	0.21541	B	.	.	0.335872	0.07097	3.669	0.92186701807256333	0.21553	0.02831	0.07574	N	AEFDBCI	0.052833	0.09466	N	-1.56453725827195	0.01451	0.06333008	-1.64696124635705	0.01392	0.06288304	0.999679925037482	0.41644	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.12	-4.91	0.02857	-0.935000	0.04059	-2.144000	0.04148	-1.064000	0.01611	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.2517:0.1394:0.609	7.321	0.25703	719	0.55657	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	2363.44	35	chr9	97362278	.	C	T	2363.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.35;DP=355;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=0.032;SOR=0.692	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1342	6	0	1	0
chr9	97370021	97370021	C	T	exonic	CCDC180	.	nonsynonymous SNV	CCDC180:NM_020893:exon32:c.C4289T:p.T1430I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0100487400868	.	0.000199681	9.117e-05	0	0	0	0	0	0	0.0007	7.76e-05	12	154602	rs571225137	2.736e-05	2.736e-05	1.225e-05	4.263e-05	0.0004	2.062e-05	1.816e-05	0.0003	0.0003	0	0	0	0	0	0	0	3.311e-05	0.0004	2.626e-05	2.625e-05	0	5.371e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.232	0.18184	T	0.35	0.17478	T	.	.	.	.	.	.	0.818886	0.06872	N	1.089090	1	0.08975	N	.	.	.	0.9	0.45248	T	-2.08	0.47514	N	0.247	0.27910	-1.0304	0.20325	T	0.045	0.19275	T	10	0.035218745	0.01761	T	0.010049	0.26124	T	0.009	0.00846	.	.	0.0920862733494	0.08535	0.029607806722319458	0.02909	.	.	0.340997219086	0.16587	T	.	.	.	-0.521799	0.00429	T	-0.665338	0.07911	T	0.0250688493251801	0.01282	T	0.518348	0.16810	T	0.049443565	0.08779	0.046147782	0.06366	0.049443565	0.08779	0.046147782	0.06366	-4.183	0.26505	T	.	.	0.101	0.17615	B	.	.	0.769479	0.11396	8.006	0.51706251209913323	0.04612	0.02580	0.07131	N	AEFDBI	0.060712	0.11557	N	-1.22795896091743	0.04598	0.2078744	-1.23549043916825	0.05349	0.2546582	0.0399162634752865	0.14415	0.693126	0.56070	0	0.588066	0.40923	0	0.659464	0.59346	0	0.567892	0.33627	0	.	.	5.31	-1.51	0.08207	-0.237000	0.09007	-0.211000	0.10853	-0.187000	0.09635	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5143:0.279:0.1265:0.0801	4.191	0.09879	721	0.55360	Domain of unknown function DUF4456	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1858.46	42	chr9	97370021	.	C	T	1858.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.035;DP=317;ExcessHet=0;FS=1.509;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=-0.941;SOR=0.856	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	6	0	1	0
chr9	97654910	97654910	C	T	exonic	NCBP1	.	nonsynonymous SNV	NCBP1:NM_001351507:exon11:c.C91T:p.R31C,NCBP1:NM_001351504:exon12:c.C1000T:p.R334C,NCBP1:NM_001351505:exon12:c.C631T:p.R211C,NCBP1:NM_001351506:exon12:c.C631T:p.R211C,NCBP1:NM_002486:exon12:c.C1201T:p.R401C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.609	0.0167994664598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.851e-07	1.368e-06	1.363e-06	0	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	.	.	.	-6.96	0.93509	D	0.754	0.75283	0.209	0.86062	D	0.554	0.83700	D	9	0.94592524	0.93918	D	0.016799	0.38225	T	0.609	0.84666	0.865	0.96050	0.705078030891	0.70251	0.7388851984046643	0.73833	2.14787012737	0.95294	0.884774327278	0.94594	D	0.45031	0.79147	T	0.282271	0.81509	D	0.167687	0.81272	D	0.995773732662201	0.88045	D	0.982502	0.94093	D	0.85045004	0.87369	0.71764207	0.83332	0.85045004	0.87370	0.71764207	0.83333	-10.474	0.76697	D	.	.	0.886	0.81814	P	.	.	5.172118	0.86691	29.0	0.99929537262346346	0.99279	0.96822	0.71126	D	AEFGBI	0.765848	0.70220	D	0.799966842863049	0.86102	8.779395	0.726548011047735	0.84395	8.279797	0.999740495048375	0.42466	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.78	4.78	0.60666	4.541000	0.60381	5.943000	0.51513	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.288	0.90062	736	0.53558	MIF4G-like, type 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1096.83	33	chr9	97654910	.	C	T	1096.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.23;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=1.69;SOR=0.656	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1168	6	0	1	0
chr9	98092001	98092001	C	T	exonic	TRIM14	.	nonsynonymous SNV	TRIM14:NM_014788:exon5:c.G701A:p.S234N,TRIM14:NM_033219:exon5:c.G701A:p.S234N	.	429	1083	10	0	0	10	0.00459559	0.0006	0.072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0022	0.000798722	0.0019	0.0006	0.0018	0	0.0005	0.0028	0.0022	0.0004	0.0019211	297	154602	rs145652674	0.0021	0.0021	0.0021	0.0021	0.0054	0.0020	0.0020	0.0039	0.0034	0.0007	0.0021	0.0047	0	0.0006	0.0054	0.0023	0.0020	0.0004	0.0016	0.0016	0.0018	0.0013	0.0024	0.0014	0.0013	0.0021	0.0020	0.0003	0	0.0022	0.0055	0	0.0005	0.0034	0.0024	0.0024	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.010259	0.30003	N	0.316812	0.999996	0.18878	N	-1.585	0.00443	N	0.44	0.56609	T	0.24	0.04533	N	0.083	0.05929	-0.9733	0.36496	T	0.038	0.16246	T	10	0.0024508536	0.00037	T	0.023055	0.45999	T	0.024	0.04979	.	.	0.289847578895	0.28608	0.13717067156349963	0.13641	0.528776796748	0.50442	0.314618349075	0.12605	T	0.006868	0.06296	T	-0.603609	0.00139	T	-0.639827	0.09681	T	0.00155266437676753	0.00016	T	0.433957	0.11861	T	0.02810114	0.02097	0.04581857	0.06249	0.02810114	0.02097	0.04581857	0.06249	-3.316	0.13945	T	.	.	0.067	0.03060	B	.;.;.	.;.;.	0.902060	0.12763	9.279	0.75383439616410053	0.11054	0.00283	0.01525	N	AEFDGBIJ	0.063958	0.12392	N	-1.25933874716016	0.04178	0.1880742	-1.10523469601934	0.07599	0.3702889	0.99998810461178	0.51787	0.706298	0.61202	0	0.724815	0.89359	0	0.601644	0.32324	0	0.613276	0.41899	0	.	.	5.01	1.11	0.19640	1.153000	0.31287	1.326000	0.25636	-0.167000	0.11441	0.889000	0.31176	0.945000	0.28875	0.759000	0.36109	0.0:0.2824:0.0:0.7176	6.776	0.22804	683	0.59664	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.020202	0.005435	0.005848	0.000000	0.000000	0.003049	0.000000	0.08333	785.27	33	chr9	98092001	.	C	T	785.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.463;DP=220;ExcessHet=0;FS=2.13;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-1.392;SOR=1.121	GT:AD:DP:GQ:PL	0/1:33,33:66:99:795,0,846	5	0	1	1
chr9	98199422	98199422	C	T	exonic	TBC1D2	.	nonsynonymous SNV	TBC1D2:NM_001267572:exon7:c.G1366A:p.E456K,TBC1D2:NM_001267571:exon13:c.G2746A:p.E916K,TBC1D2:NM_018421:exon13:c.G2713A:p.E905K	.	403	1078	40	1	0	42	0.0191083	.	.	.	701105	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.028	.	0.0070	0.00399361	0.0078	0.0025	0.0040	0	0.0074	0.0093	0.0056	0.0119	0.0075872	1173	154602	rs34769888	0.0071	0.0071	0.0068	0.0074	0.0154	0.0070	0.0069	0.0128	0.0118	0.0013	0.0042	0.0184	5.038e-05	0.0071	0.0154	0.0070	0.0073	0.0119	0.0060	0.0060	0.0061	0.0058	0.0151	0.0056	0.0055	0.0123	0.0113	0.0018	0.0022	0.0039	0.0210	0.0004	0.0057	0.0034	0.0081	0.0047	0.0151	0.016	0.51853	D	0.143	0.35840	T	0.306	0.35621	B	0.017	0.23607	B	0.089520	0.20424	N	0.512441	0.999997	0.58761	D	2.3	0.65703	M	3.11	0.08810	T	-1.28	0.32185	N	0.092	0.07811	-0.9873	0.33273	T	0.013	0.05177	T	10	0.003650248	0.00067	T	.	.	.	0.028	0.06331	.	.	0.371903410333	0.36803	0.30874163509496355	0.30787	0.338595813605	0.35820	0.383564561605	0.22761	T	0.006655	0.06077	T	-0.519326	0.00444	T	-0.508364	0.21483	T	0.0119895157421694	0.00189	T	0.741226	0.36032	T	0.047576625	0.08154	0.09102525	0.21379	0.047576625	0.08154	0.09102525	0.21379	-6.171	0.47687	T	.	.	0.074	0.08224	B	.;.;.;.	.;.;.;.	2.443220	0.31445	18.74	0.99390375900233052	0.62292	0.80830	0.40369	D	AEFBI	0.225969	0.34998	N	-0.584721243569984	0.19409	1.015525	-0.599587913781034	0.19504	1.046703	0.998571519230402	0.37226	0.706298	0.61202	0	0.633656	0.55848	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.34	3.5	0.39181	0.450000	0.21475	1.389000	0.26100	0.580000	0.29708	0.018000	0.19461	0.879000	0.27682	0.035000	0.13729	0.0:0.8294:0.0:0.1706	9.281	0.36888	630	0.65016	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015106	0.000000	0.012228	0.005848	0.000000	0.008621	0.033537	0.037879	0.07143	480.53	30	chr9	98199422	.	C	T	480.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.136;DP=222;ExcessHet=0;FS=8.007;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.43;ReadPosRankSum=-1.123;SOR=0.165	GT:AD:DP:GQ:PL	0/0:41,0:41:81:0,81,1288	6	0	1	0
chr9	99020443	99020443	G	T	splicing	COL15A1	NM_001855:exon12:c.1701+1G>T	.	.	.	424	1087	11	0	0	11	0.00503432	0.9998	0.644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.000399361	0.0014	0.0003	0.0004	0	0.0002	0.0016	0.0022	0.0031	0.0012936	200	154602	rs139218633	0.0010	0.0010	0.0009	0.0011	0.0034	0.0010	0.0009	0.0030	0.0029	0.0003	0.0011	0.0072	0	5.617e-05	0.0033	0.0007	0.0015	0.0034	0.0010	0.0010	0.0011	0.0008	0.0033	0.0008	0.0008	0.0021	0.0017	9.618e-05	0	0.0017	0.0069	0	9.409e-05	0	0.0011	0.0009	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998355	0.44809	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.7315	0.00023	T	-0.827204	0.01312	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.363564	0.46445	22.3	0.50495399776478223	0.04394	0.30586	0.24120	N	AEFDGBCI	.	.	.	0.11469213600687	0.47148	2.944589	-0.259798412716786	0.29434	1.649087	0.999906067400715	0.45458	0.084569	0.02224	0	0.059962	0.00310	0	0.063197	0.01477	0	0.088719	0.02468	0	0.166886	0.28630	2.8	-0.586	0.11108	0.587000	0.23611	1.451000	0.26606	-0.154000	0.11915	0.996000	0.39380	1.000000	0.68203	0.223000	0.22544	0.1348:0.2095:0.4416:0.2141	1.514	0.02351	872	0.31118	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	418.27	57	chr9	99020443	.	G	T	418.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.471;DP=229;ExcessHet=0;FS=2.326;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.34;ReadPosRankSum=-0.05;SOR=0.916	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	1
chr9	99218703	99218703	C	T	exonic	ALG2	.	stopgain	ALG2:NM_033087:exon2:c.G482A:p.W161X	Myasthenic syndrome, congenital, 14, with tubular aggregates, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.828	0.82358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597158	0.97652	D	0.62	0.97616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.458503	0.97591	37	0.99695024936768817	0.80180	0.97647	0.76137	D	AEFBCI	0.261998	0.37983	N	0.920796990238025	0.92741	11.601	0.789631596824565	0.89062	9.823793	0.999999999999992	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.16	5.16	0.70563	7.503000	0.80474	7.668000	0.64620	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	0.0:1.0:0.0:0.0	19.019	0.92882	467	0.78285	Glycosyltransferase subfamily 4-like, N-terminal domain;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	72.9	34	chr9	99218703	.	C	T	72.9	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-3.371;DP=501;ExcessHet=1.1394;FS=189.497;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=0.25;ReadPosRankSum=1.4;SOR=9.269	GT:AD:DP:GQ:PL	0/1:101,30:131:32:32,0,1744	4	0	3	0
chr9	100253117	100253117	C	T	exonic	INVS	.	nonsynonymous SNV	INVS:NM_001318382:exon10:c.C467T:p.P156L,INVS:NM_014425:exon10:c.C1445T:p.P482L,INVS:NM_001318381:exon11:c.C1157T:p.P386L	Nephronophthisis 2, infantile, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.14810263074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.368e-06	0	1.376e-06	9e-07	0	0	.	.	0	0	0	0	0	0	9e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	0.16358	T	0.147	0.32783	T	0.977	0.58535	D	0.962	0.70672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.31	0.10265	N	0.13	0.81900	T	-2.2	0.49519	N	0.746	0.74553	-0.1216	0.79597	T	0.571	0.84476	D	10	0.76058435	0.76314	D	0.148103	0.83006	D	0.507	0.78786	0.514	0.61307	0.851262235679	0.84983	0.7398040293661251	0.73925	0.79841149638	0.66131	0.864979743958	0.91843	D	0.233197	0.59994	T	0.332525	0.85334	D	0.239872	0.85141	D	0.903226256370544	0.55638	D	0.985476	0.95907	D	0.12368413	0.29037	0.23433045	0.48647	0.12368413	0.29037	0.23433045	0.48646	-10.662	0.77772	D	.	.	0.939	0.85842	P	.;.	.;.	5.058116	0.84292	28.3	0.99830792758412423	0.91284	0.98862	0.87844	D	AEFBI	0.885040	0.81523	D	0.56708386729265	0.71128	5.604152	0.647914624121513	0.78455	6.879808	0.999999999548214	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.85	5.85	0.93663	7.905000	0.86479	7.675000	0.64997	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	20.173	0.98166	577	0.69927	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	217.27	30	chr9	100253117	.	C	T	217.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.235;DP=187;ExcessHet=0;FS=5.035;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-1.646;SOR=2.215	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1112	5	0	1	1
chr9	100442207	100442207	G	A	exonic	MSANTD3;MSANTD3-TMEFF1	.	nonsynonymous SNV	MSANTD3-TMEFF1:NM_001198812:exon1:c.G269A:p.R90K,MSANTD3:NM_001198805:exon2:c.G269A:p.R90K,MSANTD3:NM_001198806:exon2:c.G269A:p.R90K,MSANTD3:NM_001198807:exon2:c.G269A:p.R90K,MSANTD3:NM_080655:exon2:c.G269A:p.R90K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.00611623825291	.	.	.	.	.	.	.	.	.	.	.	.	.	rs887867357	5.473e-05	5.472e-05	6.398e-05	4.538e-05	7.014e-05	4.477e-05	4.147e-05	5.71e-05	5.28e-05	0	0	0	0	0	0	7.014e-05	1.656e-05	1.159e-05	2.631e-05	2.627e-05	2.571e-05	2.692e-05	5.881e-05	8.15e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	0.035	0.43708	D	0.0	0.92824	D	0.956	0.54666	P	0.899	0.63802	P	.	.	.	.	0.564341	0.32240	D	0.895	0.22405	L	.	.	.	-0.82	0.27876	N	0.477	0.51226	-0.6245	0.63802	T	0.222	0.58498	T	8	0.31768113	0.49176	T	0.006116	0.15993	T	0.151	0.39764	0.475	0.55182	0.259761712551	0.25597	0.7697746890755183	0.76926	1.3389385424	0.83804	0.849319815636	0.89511	D	0.180021	0.53122	T	0.0898806	0.63177	D	-0.0931832	0.63920	T	0.740648984909058	0.42772	D	0.881612	0.60904	D	0.19164935	0.40801	0.2405909	0.49437	0.19164935	0.40801	0.2405909	0.49436	-3.715	0.22333	T	.	.	0.352	0.76201	A	.;.;.;.;.;.	.;.;.;.;.;.	4.705657	0.75548	26.4	0.99690172554301759	0.79909	0.96078	0.67433	D	AEFDBHIJ	0.832475	0.75084	D	0.499267143420186	0.67048	5.029901	0.537054017540039	0.70500	5.514668	0.999999921675007	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	5.92	5.01	0.66477	6.681000	0.74356	9.815000	0.81770	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8596:0.1404	15.365	0.74231	312	0.87382	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	284.75	34	chr9	100442207	.	G	A	284.75	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.191;DP=315;ExcessHet=0.3476;FS=194.488;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.99;ReadPosRankSum=1.98;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,13:68:94:0|1:100442207_G_A:94,0,1949:100442207	4	0	2	1
chr9	100442209	100442209	G	A	exonic	MSANTD3;MSANTD3-TMEFF1	.	nonsynonymous SNV	MSANTD3-TMEFF1:NM_001198812:exon1:c.G271A:p.E91K,MSANTD3:NM_001198805:exon2:c.G271A:p.E91K,MSANTD3:NM_001198806:exon2:c.G271A:p.E91K,MSANTD3:NM_001198807:exon2:c.G271A:p.E91K,MSANTD3:NM_080655:exon2:c.G271A:p.E91K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.0055681647514	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1301280836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.626e-06	6.589e-06	1.295e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.011	0.55530	D	0.068	0.44106	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.991125	0.41313	D	0.345	0.11182	N	.	.	.	-1.85	0.43334	N	0.659	0.66873	-0.9302	0.44109	T	0.162	0.49831	T	8	0.362716	0.52860	T	0.005568	0.14379	T	0.334	0.65620	0.24	0.17218	0.128392430309	0.12331	0.7185358234044404	0.71796	0.53005267504	0.50556	0.852187097073	0.89944	D	0.250845	0.62101	T	0.312691	0.83945	D	0.211382	0.83736	D	0.699628472328186	0.40701	D	0.952805	0.82399	D	0.24373437	0.47315	0.28995815	0.55017	0.24373437	0.47315	0.28995815	0.55017	-7.936	0.64410	D	.	.	0.624	0.83259	P	.;.;.;.;.;.	.;.;.;.;.;.	4.205833	0.63499	24.6	0.99816656266768622	0.89973	0.96187	0.67934	D	AEFDBHIJ	0.810217	0.73352	D	-0.0997318424787354	0.37404	2.175666	0.111830775840215	0.45151	2.783557	0.999999923427681	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	5.92	5.01	0.66477	6.802000	0.74964	9.928000	0.82558	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.1345:0.8655:0.0	16.026	0.80343	312	0.87382	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	237.73	25	chr9	100442209	.	G	A	237.73	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.332;DP=312;ExcessHet=0.3476;FS=194.645;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.62;ReadPosRankSum=1.89;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:57,0:70:88:0|1:100442207_G_A:88,258,2312:100442207	5	0	1	1
chr9	101429893	101429893	G	C	exonic	ALDOB	.	nonsynonymous SNV	ALDOB:NM_000035:exon3:c.C186G:p.I62M	Fructose intolerance, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.0223698124844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.214	0.26386	T	0.002	0.09854	B	0.031	0.21939	B	0.010708	0.29815	N	0.395579	0.998558	0.81001	D	0.255	0.09829	N	-2.06	0.85875	D	-0.2	0.10136	N	0.245	0.27673	-1.0338	0.19236	T	0.219	0.58227	T	10	0.20269671	0.36398	T	0.02237	0.45252	T	0.229	0.52916	0.637	0.77361	0.347217280506	0.34334	0.666500206992419	0.66588	0.0167736739435	0.01621	0.507414579391	0.39861	T	0.48863	0.81419	T	-0.141023	0.29726	T	-0.440346	0.28769	T	0.152534916996956	0.17304	T	0.848715	0.53499	T	0.20012936	0.41977	0.081869036	0.18640	0.20012936	0.41977	0.081869036	0.18640	-2.661	0.06981	T	0.07479855287565809	0.03274	0.087	0.14660	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.252354	0.16495	12.57	0.93993597529210604	0.24084	0.23762	0.22180	N	AEFBI	.	.	.	-1.26536235074626	0.04100	0.1844152	-1.16424264760927	0.06516	0.313882	0.978979408359638	0.29978	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.94	-4.94	0.02830	-0.489000	0.06570	-1.021000	0.06580	-0.964000	0.01968	0.105000	0.22895	0.000000	0.08366	0.983000	0.59808	0.1491:0.4917:0.2732:0.0861	7.019	0.24085	888	0.27761	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	981.49	66	chr9	101429893	.	G	C	981.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.63;DP=243;ExcessHet=0;FS=0.945;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-2.133;SOR=0.806	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1359	6	0	1	0
chr9	101737634	101737634	C	T	exonic	GRIN3A	.	nonsynonymous SNV	GRIN3A:NM_133445:exon1:c.G346A:p.G116S	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00560010241719	0.0021	0.000199681	0.0017	0.0003	0.0012	0	0.0002	0.0026	0.0015	0.0006	0.0013777	213	154602	rs111415222	0.0018	0.0017	0.0018	0.0017	0.0049	0.0017	0.0017	0.0035	0.0030	0.0004	0.0008	0.0011	0	1.941e-05	0.0049	0.0021	0.0016	0.0005	0.0010	0.0010	0.0012	0.0009	0.0017	0.0009	0.0008	0.0015	0.0014	0.0003	0	0.0008	0.0009	0	9.42e-05	0	0.0017	0.0028	0.0006	0.361	0.11882	T	0.826	0.03761	T	0.001	0.07471	B	0.002	0.06944	B	0.660275	0.10433	N	0.828705	1	0.08975	N	0.345	0.11182	N	2.97	0.09450	T	-0.13	0.08971	N	0.063	0.03502	-1.0063	0.28065	T	0.021	0.08686	T	10	0.0053530037	0.00117	T	0.006	0.14469	T	0.036	0.09122	.	.	0.449764926163	0.44596	0.2858897877120674	0.28501	1.49091156634	0.86874	0.591523945332	0.51709	T	0.019508	0.15531	T	-0.637664	0.00086	T	-0.694594	0.06126	T	0.0112965726492547	0.00167	T	0.674733	0.28305	T	0.06613353	0.14201	0.092252426	0.21731	0.06613353	0.14201	0.092252426	0.21731	-4.821	0.34835	T	.	.	0.080	0.07841	B	.	.	0.487741	0.08571	5.336	0.95040572100845178	0.26046	0.03633	0.08878	N	AEFDBCI	0.051638	0.09141	N	-0.712701061573313	0.15664	0.7913991	-0.678992227102204	0.17486	0.9300331	0.932028709515217	0.27072	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	5.12	3.19	0.35720	0.680000	0.24986	0.389000	0.17868	0.596000	0.33519	0.000000	0.06391	0.026000	0.21063	0.009000	0.08673	0.0:0.7586:0.0:0.2414	8.802	0.34075	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	1696.45	46	chr9	101737634	.	C	T	1696.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.912;DP=366;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-1.334;SOR=0.755	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,100,1134	6	0	1	0
chr9	103004792	103004792	C	T	exonic	CYLC2	.	nonsynonymous SNV	CYLC2:NM_001340:exon4:c.C278T:p.A93V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.012404367441	0.0015	0.000798722	0.0011	0.0003	0.0002	0	0.0008	0.0017	0.0011	0.0004	0.0012096	187	154602	rs145110008	0.0024	0.0024	0.0024	0.0023	0.0029	0.0023	0.0023	0.0028	0.0028	0.0003	0.0003	0.0009	0	0.0008	0.0002	0.0029	0.0025	0.0003	0.0015	0.0015	0.0017	0.0012	0.0027	0.0013	0.0012	0.0024	0.0023	0.0004	0	0.0004	0.0009	0	0.0008	0	0.0027	0.0014	0.0002	0.033	0.44358	D	0.071	0.43531	T	1.0	0.90584	D	0.996	0.84481	D	0.000606	0.42945	D	0.000000	0.637726	0.32847	D	2.79	0.81396	M	1.66	0.27486	T	-2.72	0.57920	D	0.607	0.62442	-0.5495	0.66806	T	0.184	0.53300	T	10	0.028315753	0.00965	T	0.012404	0.30939	T	0.207	0.49555	.	.	0.269558022972	0.26553	0.05087525527710861	0.05029	0.00723959709662	0.00633	0.432442367077	0.29542	T	0.102642	0.41056	T	-0.38465	0.02911	T	-0.328977	0.41583	T	0.0411315024657942	0.03896	T	0.823018	0.48339	T	0.23421179	0.46238	0.26053193	0.51817	0.23421179	0.46238	0.26053193	0.51816	-3.83	0.21253	T	.	.	0.871	0.81319	P	.;.;.	.;.;.	4.388470	0.67704	25.1	0.99916231618210127	0.98449	0.82199	0.41463	D	AEFI	0.323456	0.42564	N	0.6585875637896	0.76926	6.577267	0.600958107437743	0.75009	6.235423	0.0137651735540973	0.12507	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.53	4.53	0.55009	3.740000	0.54802	6.807000	0.56640	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	12.975	0.57933	506	0.75555	Cylicin, N-terminal;Cylicin, N-terminal;Cylicin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	1106.27	34	chr9	103004792	.	C	T	1106.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.584;DP=254;ExcessHet=0;FS=5.586;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.317;SOR=0.308	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1116	5	0	1	1
chr9	104504509	104504509	G	A	exonic	OR13F1	.	nonsynonymous SNV	OR13F1:NM_001004485:exon1:c.G247A:p.A83T	.	.	.	.	.	.	.	.	.	.	.	3570451	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.010	0.00143780746462	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1004628845	6.157e-06	6.157e-06	4.084e-06	8.251e-06	8.094e-06	2.9e-06	2.1e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.094e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.24955	T	0.112	0.37037	T	0.262	0.31549	B	0.066	0.27432	B	0.532299	0.05265	N	1.284460	1	0.08975	N	1.315	0.32790	L	7.57	0.00366	T	-0.08	0.08187	N	0.044	0.01658	-1.0060	0.28156	T	0.001	0.00188	T	10	0.04950899	0.04550	T	0.001438	0.02164	T	0.010	0.01040	0.41	0.44559	0.0954503805726	0.09146	0.09549209868995323	0.09481	0.0324965836204	0.03398	0.208759307861	0.00760	T	3.11E-4	0.00083	T	-0.399702	0.02326	T	-0.81192	0.01622	T	0.0654092654585838	0.07992	T	0.143286	0.01166	T	0.1089516	0.25758	0.06915203	0.14534	0.1089516	0.25758	0.06915203	0.14534	-6.056	0.46745	T	.	.	0.089	0.12228	B	.	.	0.810137	0.11810	8.381	0.94022595398216835	0.24131	0.02217	0.06454	N	AEFI	0.035356	0.04537	N	-1.08429401584641	0.06932	0.3205337	-1.13544745665806	0.07032	0.3405747	5.08507694475033E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.91	-3.0	0.05148	-2.274000	0.01245	-3.316000	0.02882	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.4067:0.1515:0.2877:0.1541	1.089	0.01557	595	0.68488	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	74.22	33	chr9	104504509	.	G	A	74.22	.	AC=2;AF=0.143;AN=14;DP=663;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=29.26;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:135,0:135:99:.:.:0,120,1800:.	6	1	0	0
chr9	104694802	104694802	T	G	exonic	OR13D1	.	nonsynonymous SNV	OR13D1:NM_001004484:exon1:c.T381G:p.I127M	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	.	0.00139776	0.0012	9.61e-05	8.637e-05	0.0151	0	4.495e-05	0	0.0006	0.0009961	154	154602	rs145961687	0.0004	0.0004	0.0004	0.0004	0.0091	0.0003	0.0003	0.0083	0.0080	5.974e-05	2.236e-05	0.0003	0.0091	1.872e-05	0.0009	7.644e-05	0.0003	0.0006	0.0005	0.0005	0.0005	0.0006	0.0122	0.0004	0.0004	0.0098	0.0089	2.405e-05	0	6.54e-05	0.0006	0.0122	0	0	2.94e-05	0.0005	0.0017	0.097	0.30943	T	0.223	0.25670	T	0.099	0.25639	B	0.053	0.25678	B	0.352431	0.13795	N	0.634263	1	0.08975	N	0.14	0.08730	N	7.57	0.00366	T	-0.24	0.10833	N	0.134	0.13055	-0.9770	0.35683	T	0.001	0.00188	T	10	0.0055148005	0.00122	T	.	.	.	0.008	0.00669	.	.	0.101711395817	0.09552	0.040797502088583945	0.04024	0.0261378392519	0.02667	0.180021569133	0.00094	T	0.001646	0.01075	T	-0.654041	0.00068	T	-0.699937	0.05829	T	0.0184980049822226	0.00566	T	0.119888	0.00926	T	0.08140499	0.18704	0.07149282	0.15317	0.08140499	0.18704	0.07149282	0.15316	-4.353	0.28914	T	.	.	0.074	0.05060	B	.;.	.;.	1.030447	0.14106	10.68	0.14321184457444314	0.00312	0.09327	0.15105	N	AEFDGI	0.091556	0.18544	N	-1.08299022590462	0.06956	0.3217421	-1.11684723541901	0.07378	0.358653	1.0271264249676E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.75	2.57	0.29928	-1.398000	0.02615	-2.992000	0.03160	-0.179000	0.10443	0.000000	0.06391	0.000000	0.08366	0.151000	0.20341	0.0:0.0:0.2022:0.7978	8.26	0.30940	883	0.28872	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	265.44	56	chr9	104694802	.	T	G	265.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.486;DP=394;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.42;ReadPosRankSum=1.11;SOR=0.368	GT:AD:DP:GQ:PL	0/0:111,0:111:99:0,120,1800	6	0	1	0
chr9	105365554	105365554	C	T	exonic	SLC44A1	.	nonsynonymous SNV	SLC44A1:NM_001286730:exon11:c.C1325T:p.T442M,SLC44A1:NM_001330731:exon11:c.C1325T:p.T442M,SLC44A1:NM_080546:exon11:c.C1325T:p.T442M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.786	0.09428313461	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs765808925	1.165e-05	1.232e-05	8.186e-06	1.515e-05	0.0002	7.1e-06	5.8e-06	9.799e-05	7.844e-05	0	0	0	0	0	0	2.704e-06	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.215	0.89331	M	1.63	0.28002	T	-4.51	0.78222	D	0.982	0.99181	-0.5679	0.66099	T	0.252	0.62142	T	10	0.9686228	0.96402	D	0.094283	0.76224	D	0.786	0.92908	0.861	0.95829	0.604808694882	0.60165	0.8684455969637402	0.86809	1.09336094306	0.77502	0.872319638729	0.92899	D	0.344413	0.71293	T	0.142455	0.68558	D	0.169504	0.81381	D	0.923187589294888	0.58370	D	0.965953	0.90409	D	0.45163223	0.64144	0.5699551	0.75100	0.45163223	0.64145	0.5699551	0.75100	-12.942	0.89447	D	.	.	0.935	0.89465	P	.;.;.	.;.;.	5.699555	0.93107	33	0.999380981786128	0.99698	0.98645	0.85080	D	AEFGBI	0.930881	0.91885	D	0.945187350397598	0.93791	12.27973	0.915998397647704	0.96232	14.45246	0.999999999999997	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	7.905000	0.86479	7.624000	0.62436	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.106	0.97895	963	0.08280	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	776.27	29	chr9	105365554	.	C	T	776.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.09;DP=234;ExcessHet=0;FS=0.928;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-0.559;SOR=0.557	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,981	5	0	1	1
chr9	106974250	106974250	T	C	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.T4214C:p.I1405T,ZNF462:NM_021224:exon9:c.T6809C:p.I2270T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.0225480179474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.0	0.92824	D	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.575	0.39704	L	3.38	0.05778	T	-0.68	0.36980	N	0.873	0.87049	-1.0740	0.08556	T	0.061	0.25455	T	10	0.3783521	0.54005	T	0.022548	0.45449	T	0.332	0.65424	0.419	0.46036	0.043077524339	0.03247	0.5838881706070325	0.58317	2.02329959298	0.94019	0.924512147903	0.98647	D	0.011805	0.11071	T	0.105501	0.64882	D	-0.0862318	0.64445	T	0.798904538154602	0.46279	D	0.963604	0.86445	D	0.1377539	0.31884	0.16932428	0.38958	0.1377539	0.31884	0.16932428	0.38957	-11.857	0.84147	D	.	.	0.989	0.94382	P	.;.;.	.;.;.	4.830708	0.78774	27.0	0.99799257148110543	0.88461	0.98380	0.82188	D	AEFBI	0.909931	0.86721	D	0.462121070414506	0.64895	4.754563	0.527672054984196	0.69859	5.42084	0.999999998491949	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	7.645000	0.82580	6.207000	0.54965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	15.905	0.79209	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	647.45	71	chr9	106974250	.	T	C	647.45	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-3.424;DP=793;ExcessHet=6.1542;FS=213.033;MLEAC=6;MLEAF=0.6;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=2.55;SOR=10.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,54:197:91:0|1:106974250_T_C:91,0,4337:106974250	0	0	5	2
chr9	106974252	106974252	G	A	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.G4216A:p.D1406N,ZNF462:NM_021224:exon9:c.G6811A:p.D2271N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0408367045235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.9	0.50570	L	3.42	0.05507	T	-1.1	0.35991	N	0.785	0.79503	-1.1146	0.02703	T	0.065	0.26772	T	10	0.41275227	0.56336	T	0.040837	0.59597	D	0.240	0.54500	0.441	0.49648	0.138757226776	0.13463	0.7163974984860814	0.71582	1.77884305262	0.91374	0.91669100523	0.98061	D	0.018486	0.14891	T	-0.186331	0.22798	T	-0.505428	0.21785	T	0.864430676400788	0.51459	D	0.975002	0.91107	D	0.1619377	0.36236	0.1629017	0.37816	0.1619377	0.36236	0.1629017	0.37816	-10.165	0.76340	D	.	.	0.990	0.93507	P	.;.;.	.;.;.	5.368506	0.90010	31	0.99920868308788402	0.98721	0.99180	0.92409	D	AEFBI	0.912600	0.87345	D	0.658390178150991	0.76912	6.574868	0.70769665526324	0.82963	7.898997	0.999999999998965	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	9.564000	0.97283	11.869000	0.98523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.759	0.96302	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1936.53	71	chr9	106974252	.	G	A	1936.53	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.743;DP=654;ExcessHet=1.383;FS=265.935;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=4.14;ReadPosRankSum=2.19;SOR=9.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,67:188:99:0|1:106974250_T_C:1043,0,3328:106974250	3	0	3	1
chr9	107487143	107487143	C	G	exonic	KLF4	.	nonsynonymous SNV	KLF4:NM_001314052:exon3:c.G1251C:p.R417S,KLF4:NM_004235:exon4:c.G1149C:p.R383S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.015437981387	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1055601652	1.847e-05	1.847e-05	2.586e-05	1.1e-05	2.338e-05	1.265e-05	1.084e-05	1.627e-05	1.382e-05	0	0	0	0	0	0	2.338e-05	1.656e-05	0	3.285e-05	3.283e-05	3.854e-05	2.69e-05	7.349e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0	0.0	0.91255	D	0.003	0.76473	D	0.461	0.36363	P	0.324	0.41853	B	0.005540	0.32720	N	0.140255	0.999867	0.50061	D	.	.	.	3.18	0.07478	T	-5.95	0.89152	D	0.552	0.69300	-1.1522	0.00961	T	0.060	0.25163	T	10	0.3209747	0.49466	T	0.015438	0.36172	T	0.175	0.44197	.	.	0.513042017857	0.50944	0.6226012613771811	0.62193	0.27921572844	0.30403	0.843757450581	0.88667	D	0.291788	0.66453	T	-0.00522167	0.50931	T	-0.13762	0.60324	T	0.980601906776428	0.73449	D	0.90231	0.66640	D	.	.	.	.	.	.	.	.	-11.991	0.84808	D	.	.	0.843	0.79411	P	.;.	.;.	4.093493	0.60986	24.3	0.99175183488676577	0.54498	0.60981	0.31351	D	AEFDGBCI	0.545014	0.55970	D	0.128078119235517	0.47775	2.998647	0.0812111553778328	0.43605	2.658757	0.99999910092135	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.503968	0.08637	0	0.56751	0.32155	0	.	.	5.57	2.31	0.27816	-0.098000	0.10993	2.574000	0.33380	0.599000	0.40250	0.819000	0.29975	1.000000	0.68203	0.999000	0.91618	0.0:0.7195:0.0:0.2805	10.659	0.44886	747	0.52260	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	58.44	34	chr9	107487143	.	C	G	58.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.645;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=1.65;SOR=0.223	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1275	6	0	1	0
chr9	110137052	110137052	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1082C:p.R361T,PALM2AKAP2:NM_001136562:exon2:c.G815C:p.R272T,PALM2AKAP2:NM_001198656:exon2:c.G1082C:p.R361T,PALM2AKAP2:NM_007203:exon8:c.G1508C:p.R503T,PALM2AKAP2:NM_147150:exon8:c.G1508C:p.R503T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0618637391386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.424e-06	0.0004	4.089e-06	2.753e-06	3.602e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.024	0.57104	D	0.949	0.65571	P	0.496	0.73820	P	0.002376	0.36688	N	0.265487	0.528475	0.31955	D	2.125	0.59049	M	0.88	0.46028	T	-1.48	0.56144	N	0.354	0.44857	-0.5485	0.66844	T	0.199	0.55442	T	10	0.25693607	0.43103	T	0.061864	0.68469	D	0.118	0.32913	0.194	0.10571	0.52468985305	0.52114	0.3132723605175298	0.31240	0.508839714498	0.49031	0.421055316925	0.27981	T	0.068456	0.33461	T	-0.00465218	0.51011	T	-0.244459	0.50362	T	0.82229095697403	0.47942	D	0.916508	0.71628	D	0.14253841	0.32799	0.105709225	0.25417	0.14253841	0.32798	0.105709225	0.25416	-6.736	0.54231	T	.	.	0.488	0.66996	A	.;.;.;.;.;.	.;.;.;.;.;.	3.479942	0.48587	22.6	0.93161729188529674	0.22814	0.93481	0.58334	D	AEFBCIJ	0.371545	0.45752	N	0.194427995474043	0.50931	3.278602	0.1677655242984	0.48093	3.029822	0.999992215884336	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.63	4.73	0.59485	3.590000	0.53726	5.886000	0.50702	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.1723:0.0:0.8277:0.0	8.596	0.32880	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	623.16	28	chr9	110137052	.	G	C	623.16	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-0.079;DP=278;ExcessHet=0.4139;FS=138.611;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=4.52;ReadPosRankSum=2.2;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,17:72:99:0|1:110137052_G_C:261,0,1918:110137052	2	0	2	3
chr9	110137054	110137054	G	A	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1084A:p.A362T,PALM2AKAP2:NM_001136562:exon2:c.G817A:p.A273T,PALM2AKAP2:NM_001198656:exon2:c.G1084A:p.A362T,PALM2AKAP2:NM_007203:exon8:c.G1510A:p.A504T,PALM2AKAP2:NM_147150:exon8:c.G1510A:p.A504T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0262409829576	.	.	1.678e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs777202417	6.173e-06	6.157e-06	8.191e-06	4.136e-06	0.0002	2.91e-06	2.1e-06	0.0001	7.819e-05	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.084	0.42976	T	0.873	0.70673	P	0.461	0.78396	P	0.000361	0.45440	D	0.192211	0.554502	0.32161	D	1.95	0.52479	M	0.82	0.48142	T	-0.38	0.20145	N	0.196	0.26596	-0.6067	0.64540	T	0.231	0.59732	T	10	0.15551329	0.29309	T	0.026241	0.49161	D	0.058	0.16647	0.201	0.11522	0.606491963429	0.60334	0.1585652680794885	0.19118	0.413830099629	0.42075	0.353128492832	0.18382	T	0.05449	0.29740	T	-0.32145	0.06780	T	-0.414803	0.31673	T	0.136570181284112	0.15976	T	0.914109	0.69400	D	0.07271283	0.16195	0.093768194	0.22163	0.07271283	0.16195	0.093768194	0.22162	-5.913	0.46163	T	.	.	0.123	0.36653	B	.;.;.;.;.;.	.;.;.;.;.;.	3.350669	0.46210	22.3	0.99576051814353395	0.72682	0.77969	0.38401	D	AEFBCIJ	0.274752	0.38987	N	0.18937847889013	0.50690	3.256583	0.211920241110118	0.50507	3.242088	0.999998236571977	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.42	4.46	0.53567	3.170000	0.50516	7.765000	0.68366	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.3075:0.6925:0.0	11.752	0.51121	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	518.8	28	chr9	110137054	.	G	A	518.8	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.248;DP=291;ExcessHet=0.3476;FS=128.322;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=4.05;ReadPosRankSum=1.88;SOR=7.167	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,17:72:99:0|1:110137052_G_C:261,0,1918:110137052	3	0	2	2
chr9	110407688	110407688	C	T	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon38:c.G7912A:p.D2638N	.	421	1062	36	3	0	42	0.0193906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	.	0.0009	0.00419329	0.0039	0.0002	0.0009	0	0	0.0016	0.0022	0.0211	0.0033699	521	154602	rs150389025	0.0022	0.0022	0.0016	0.0028	0.0190	0.0022	0.0021	0.0182	0.0179	8.961e-05	0.0012	0.0036	5.038e-05	0.0001	0.0088	0.0011	0.0027	0.0190	0.0016	0.0016	0.0013	0.0020	0.0188	0.0015	0.0014	0.0157	0.0146	7.216e-05	0.0175	0.0006	0.0023	0	0	0.0102	0.0017	0.0028	0.0188	.	.	.	0.156	0.31833	T	0.09	0.25173	B	0.051	0.25434	B	0.137757	0.18402	N	0.581714	1	0.08975	N	1.95	0.52479	M	.	.	.	.	.	.	0.179	0.19325	-0.8995	0.48044	T	0.210	0.56973	T	10	0.002509147	0.00038	T	.	.	.	0.184	0.45763	.	.	0.043077524339	0.03247	0.2620463983057441	0.26117	0.121745610629	0.13719	0.28997734189	0.08920	T	0.011709	0.10405	T	-0.438756	0.01315	T	-0.387424	0.34853	T	0.0170388723119597	0.00452	T	0.806319	0.45525	T	0.07042702	0.15511	0.064716496	0.13012	0.07042702	0.15511	0.064716496	0.13012	-4.035	0.24326	T	.	.	0.079	0.07318	B	.;.	.;.	1.640661	0.20938	14.98	0.9681063104756773	0.31187	0.29024	0.23712	N	AEFGBI	0.213469	0.33904	N	-0.524122409655037	0.21302	1.129493	-0.48544654266276	0.22554	1.225571	0.0590270227794336	0.15147	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.4	5.4	0.77957	1.585000	0.36210	3.945000	0.40631	0.547000	0.25779	0.396000	0.26137	0.999000	0.35428	0.078000	0.17132	0.0:0.7881:0.1376:0.0743	10.073	0.41516	969	0.06854	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.004076	0.008772	0.000000	0.008621	0.012195	0.015152	0.07143	1997.44	46	chr9	110407688	.	C	T	1997.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.002;DP=394;ExcessHet=0;FS=1.307;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-1.252;SOR=0.855	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1194	6	0	1	0
chr9	110697338	110697338	T	C	exonic	MUSK	.	nonsynonymous SNV	MUSK:NM_001166280:exon5:c.T500C:p.I167T,MUSK:NM_001166281:exon5:c.T500C:p.I167T,MUSK:NM_005592:exon5:c.T500C:p.I167T	Fetal akinesia deformation sequence, Autosomal recessive;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, Autosomal recessive	1	1491	28	2	0	32	0.0106171	.	.	.	310665	Inborn_genetic_diseases|Congenital_myasthenic_syndrome_9|Fetal_akinesia_deformation_sequence_1|MUSK-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014587,MedGen:C4225368,OMIM:616325,Orphanet:590|Human_Phenotype_Ontology:HP:0001989,MONDO:MONDO:0100101,MedGen:C1276035,OMIM:208150,Orphanet:994|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.073	0.0105356802295	0.0006	0.000998403	0.0011	0	8.639e-05	0.0001	0	0.0004	0	0.0064	0.0009638	149	154602	rs202045225	0.0008	0.0008	0.0006	0.0010	0.0076	0.0008	0.0008	0.0069	0.0067	2.988e-05	0.0001	0.0034	5.042e-05	1.875e-05	0.0076	0.0004	0.0009	0.0074	0.0005	0.0005	0.0003	0.0006	0.0060	0.0004	0.0004	0.0043	0.0037	0	0	0.0002	0.0035	0	0	0	0.0004	0	0.0060	0.227	0.27544	T	0.408	0.39645	T	0.0	0.02946	B	0.013	0.16460	B	0.000338	0.45700	N	0.223986	0.979095	0.47691	D	1.52	0.38360	L	-0.32	0.68181	T	-0.51	0.19509	N	0.366	0.44857	-0.9802	0.34955	T	0.180	0.52736	T	10	0.008293927	0.00188	T	0.010536	0.27195	T	0.073	0.21317	.	.	0.642361509819	0.63941	0.5543889347204217	0.55365	0.210267244558	0.23511	0.463808655739	0.33832	T	0.085329	0.37478	T	-0.457993	0.01012	T	-0.426787	0.30301	T	0.0137720248757838	0.00259	T	0.758424	0.41060	T	0.08186974	0.18832	0.09594791	0.22777	0.10821594	0.25586	0.1335766	0.32027	-7.667	0.58778	D	0.1998646848778895	0.26509	0.444	0.71856	A	.;.;.;.;.	.;.;.;.;.	1.949993	0.24767	16.52	0.7974631330892249	0.12882	0.79331	0.39290	D	AEFGBI	0.188104	0.31539	N	-0.666228027466867	0.16988	0.870428	-0.485543765250945	0.22551	1.225413	0.446587483137447	0.20502	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.88	3.57	0.40014	3.236000	0.51035	1.902000	0.29588	-0.912000	0.02253	1.000000	0.71638	1.000000	0.68203	0.904000	0.43992	0.0:0.1478:0.0:0.8522	10.855	0.46000	963	0.08280	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.001359	0.005848	0.000000	0.000000	0.006098	0.011364	0.07143	537.45	75	chr9	110697338	.	T	C	537.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.321;DP=261;ExcessHet=0;FS=1.991;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.17;ReadPosRankSum=1.26;SOR=0.997	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1193	6	0	1	0
chr9	111785926	111785926	C	T	exonic	SHOC1	.	nonsynonymous SNV	SHOC1:NM_001378211:exon3:c.G155A:p.R52K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00982530020294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.26519	T	0.0	0.92824	D	.	.	.	.	.	.	0.739388	0.09789	N	0.842164	1	0.81001	D	.	.	.	1.07	0.39586	T	-0.42	0.14193	N	0.074	0.04790	-1.0257	0.21853	T	0.051	0.21650	T	9	0.05960405	0.07189	T	0.009825	0.25608	T	0.027	0.05988	0.243	0.17677	0.171388866994	0.16791	.	.	.	.	.	.	.	.	.	.	-0.349256	0.04774	T	-0.739458	0.03913	T	0.19066447019577	0.19883	T	0.360464	0.08297	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.23605	B	.	.	0.716092	0.10848	7.528	0.97664371873526923	0.35218	0.21825	0.21537	N	AEFI	0.050075	0.08717	N	-0.83367359060134	0.12455	0.6072414	-0.796703503127568	0.14575	0.7622901	0.0286760787035512	0.13845	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.04	-3.37	0.04591	-0.626000	0.05624	-0.210000	0.10862	-0.223000	0.07921	0.582000	0.27602	0.017000	0.20586	0.904000	0.43992	0.1351:0.2832:0.2666:0.3151	1.069	0.01517	378	0.83833	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	55.44	34	chr9	111785926	.	C	T	55.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.473;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.04;ReadPosRankSum=0.456;SOR=0.495	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1189	6	0	1	0
chr9	112689615	112689615	A	G	exonic	INIP	.	nonsynonymous SNV	INIP:NM_001329589:exon3:c.T41C:p.I14T,INIP:NM_001329590:exon4:c.T41C:p.I14T,INIP:NM_021218:exon4:c.T131C:p.I44T,INIP:NM_001329585:exon5:c.T122C:p.I41T,INIP:NM_001329588:exon5:c.T41C:p.I14T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.408	0.00946563024945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1420434599	8.214e-06	8.893e-06	9.536e-06	6.88e-06	2.32e-05	4.38e-06	3.46e-06	3.85e-06	2.76e-06	0	2.236e-05	0	0	0	0	8.1e-06	0	2.32e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.13	0.91255	T	0.497	0.66756	T	0.989	0.62824	D	0.978	0.74104	D	0.000000	0.84330	D	0.043766	1	0.81001	D	2.155	0.60227	M	.	.	.	-1.1	0.29525	N	0.914	0.96644	-0.1811	0.78153	T	0.415	0.76232	T	9	0.6152924	0.67671	D	0.009466	0.24809	T	0.408	0.72022	0.273	0.22369	0.173771789658	0.16945	0.5259262445978642	0.52516	1.04060265432	0.75784	0.71062541008	0.68684	T	0.018853	0.15125	T	0.379005	0.88644	D	0.389503	0.91763	D	0.563923895359039	0.35004	D	0.862314	0.55722	D	0.19265652	0.40943	0.24645922	0.50156	0.19265652	0.40943	0.24645922	0.50155	-2.153	0.03818	T	.	.	0.669	0.73400	P	.;.	.;.	4.515622	0.70752	25.6	0.99189078385905294	0.54906	0.97807	0.77277	D	AEFBI	0.875353	0.79873	D	0.651546067839974	0.76468	6.492251	0.603620230617292	0.75202	6.269	0.999999757431623	0.74766	0.566229	0.32551	0	0.653731	0.59785	0	0.663124	0.60104	0	0.674467	0.66132	0	.	.	5.74	5.74	0.90070	8.215000	0.89718	11.085000	0.85821	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.891000	0.42908	1.0:0.0:0.0:0.0	16.046	0.80526	536	0.73233	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	352.45	34	chr9	112689615	.	A	G	352.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.13;DP=221;ExcessHet=0;FS=2.68;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=-0.214;SOR=1.141	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1170	6	0	1	0
chr9	114343791	114343791	T	C	exonic	AKNA	.	nonsynonymous SNV	AKNA:NM_001317952:exon18:c.A3317G:p.H1106R,AKNA:NM_001317950:exon19:c.A3674G:p.H1225R,AKNA:NM_030767:exon19:c.A3674G:p.H1225R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0025248519689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.872e-07	1.368e-06	0	1.384e-06	2.534e-05	0	0	.	.	0	0	0	2.534e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.16412	T	0.712	0.13912	T	0.005	0.12996	B	0.003	0.08700	B	0.527080	0.11678	N	0.765375	1	0.08975	N	1.295	0.32453	L	2.55	0.19726	T	-2.71	0.77881	D	0.207	0.31925	-0.9616	0.38877	T	0.030	0.12935	T	10	0.08855426	0.15258	T	0.002525	0.05037	T	0.043	0.11576	0.452	0.51448	0.524533156562	0.52098	0.42345681718948996	0.42262	0.0808623515177	0.09103	0.306526899338	0.11382	T	0.007984	0.07346	T	-0.304865	0.08207	T	-0.675694	0.07248	T	0.0305703091389252	0.02079	T	0.522748	0.17058	T	0.05599487	0.10958	0.07951147	0.17905	0.05599487	0.10958	0.07951147	0.17905	-2.176	0.03925	T	.	.	0.070	0.10739	B	.;.;.;.;.	.;.;.;.;.	-0.226970	0.02955	0.437	0.42711339111313235	0.03167	0.06556	0.12569	N	AEFDGBCI	0.029522	0.02802	N	-1.04061875551037	0.07772	0.3622186	-1.06040235983419	0.08490	0.4177554	0.999986391302759	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.1	0.487	0.16050	-0.354000	0.07731	-3.229000	0.02952	-0.109000	0.15193	0.012000	0.18695	0.000000	0.08366	0.052000	0.15357	0.0:0.3134:0.0:0.6866	6.193	0.19748	684	0.59539	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	728.49	33	chr9	114343791	.	T	C	728.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.18;DP=274;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.36;ReadPosRankSum=-0.04;SOR=0.723	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1249	6	0	1	0
chr9	114356878	114356878	C	T	exonic	AKNA	.	nonsynonymous SNV	AKNA:NM_001317952:exon12:c.G2474A:p.R825Q,AKNA:NM_001317950:exon13:c.G2831A:p.R944Q,AKNA:NM_030767:exon13:c.G2831A:p.R944Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00993535124215	.	.	1.671e-05	0	0	0	0	1.512e-05	0	6.477e-05	1.29e-05	2	154602	rs769607216	1.426e-05	1.573e-05	9.921e-06	1.865e-05	3.892e-05	9.31e-06	7.57e-06	1.034e-05	7.77e-06	0	0	0	0	0	0	1.56e-05	0	3.892e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27080	T	0.106	0.37872	T	0.917	0.50750	P	0.105	0.33681	B	0.007053	0.31632	N	0.148462	0.775625	0.29389	N	1.87	0.49600	L	2.64	0.15492	T	-2.24	0.50830	N	0.414	0.45426	-1.0711	0.09173	T	0.025	0.10733	T	10	0.23101202	0.40066	T	0.009935	0.25856	T	0.072	0.21020	0.252	0.19067	0.707253505956	0.70470	0.10636751150769609	0.10566	0.434792675804	0.43605	0.323565304279	0.13962	T	0.012546	0.11008	T	-0.147872	0.28646	T	-0.450185	0.27678	T	0.661053836345673	0.38942	D	0.782222	0.41780	T	0.08095024	0.18576	0.08296759	0.18977	0.08095024	0.18576	0.08296759	0.18976	-4.072	0.28789	T	.	.	0.086	0.20934	B	.;.;.;.	.;.;.;.	2.718638	0.35558	19.93	0.99924644736892165	0.98980	0.52516	0.29150	D	AEFBCI	0.071281	0.14184	N	0.0462454656426941	0.43969	2.679678	0.107914559752747	0.44951	2.767196	0.999942241877271	0.47345	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.3	3.42	0.38259	0.243000	0.17880	1.049000	0.23621	0.599000	0.40250	0.861000	0.30630	0.559000	0.25510	0.913000	0.44837	0.0:0.8077:0.0:0.1923	7.559	0.27010	693	0.58582	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	901.49	33	chr9	114356878	.	C	T	901.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.592;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-0.889;SOR=0.595	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1217	6	0	1	0
chr9	114361765	114361765	G	A	exonic	AKNA	.	nonsynonymous SNV	AKNA:NM_001317952:exon8:c.C1706T:p.T569M,AKNA:NM_001317950:exon9:c.C2063T:p.T688M,AKNA:NM_030767:exon9:c.C2063T:p.T688M	.	410	1089	22	1	0	24	0.0108992	.	.	.	2826338	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.015	.	0.0068	0.00519169	0.0065	0.0015	0.0055	0.0001	0.0079	0.0088	0.0100	0.0035	0.0066752	1032	154602	rs45550039	0.0077	0.0077	0.0077	0.0076	0.0199	0.0076	0.0075	0.0169	0.0158	0.0017	0.0070	0.0065	2.519e-05	0.0083	0.0199	0.0085	0.0075	0.0030	0.0058	0.0058	0.0062	0.0054	0.0082	0.0055	0.0054	0.0074	0.0072	0.0013	0	0.0082	0.0072	0.0002	0.0103	0.0068	0.0079	0.0066	0.0029	0.129	0.27904	T	0.127	0.35455	T	0.036	0.20732	B	0.011	0.15521	B	0.234282	0.03539	N	1.544550	1	0.08975	N	1.375	0.34280	L	1.43	0.32958	T	-2.0	0.46503	N	0.107	0.13055	-1.0391	0.17587	T	0.019	0.07986	T	10	0.0032791793	0.00056	T	.	.	.	0.015	0.02232	.	.	0.604686531655	0.60152	0.10726145820988174	0.10655	0.0836533388131	0.09433	0.260488629341	0.04949	T	0.002514	0.01904	T	-0.648514	0.00074	T	-0.692646	0.06237	T	0.00118282534707189	0.00012	T	0.482752	0.14626	T	0.013942108	0.00075	0.03025895	0.01460	0.013942108	0.00075	0.03025895	0.01459	-5.684	0.44013	T	.	.	0.074	0.06341	B	.;.;.;.;.	.;.;.;.;.	-0.182056	0.03184	0.523	0.38005468494702371	0.02538	0.05762	0.11693	N	AEFBCI	0.034765	0.04364	N	-1.31496623235112	0.03503	0.1565954	-1.3568662141723	0.03725	0.1743749	0.999996869454886	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.97	-2.72	0.05616	-0.658000	0.05429	-0.483000	0.08907	-0.897000	0.02353	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4083:0.134:0.3203:0.1374	1.595	0.02502	702	0.57624	.;.;.;.;.	.	.	.	.	rs45550039	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	1827.83	34	chr9	114361765	.	G	A	1827.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.79;DP=282;ExcessHet=0;FS=6.584;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.58;ReadPosRankSum=0.962;SOR=1.322	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1291	6	0	1	0
chr9	114406373	114406373	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1165C:p.A389P,WHRN:NM_001083885:exon9:c.G1069C:p.A357P,WHRN:NM_001173425:exon9:c.G2218C:p.A740P,WHRN:NM_015404:exon9:c.G2218C:p.A740P	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00416941012184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.11120	T	0.818	0.11968	T	0.019	0.17989	B	0.034	0.22546	B	0.000095	0.51296	D	0.131649	0.999967	0.52935	D	1.495	0.37439	L	4.14	0.06291	T	0.56	0.02680	N	0.058	0.06854	-0.9371	0.43072	T	0.013	0.04890	T	10	0.12661639	0.24072	T	0.004169	0.10026	T	0.056	0.15993	0.19	0.10039	0.222439326576	0.21863	0.2356190119927257	0.23476	0.162702542639	0.18360	0.486659765244	0.36976	T	0.043648	0.26569	T	-0.26956	0.11805	T	-0.624981	0.10798	T	0.589373826980591	0.35981	D	0.844815	0.56549	T	0.17356452	0.38112	0.3176821	0.57741	0.17356452	0.38111	0.3176821	0.57741	-3.45	0.15738	T	.	.	0.117	0.23640	B	.;.;.	.;.;.	2.684793	0.35034	19.79	0.83225243468858157	0.14610	0.68447	0.33805	D	AEFDBI	0.175621	0.30280	N	-0.308744411522723	0.28816	1.592539	-0.135753199447611	0.33960	1.948272	0.999999513023983	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	4.33	0.51083	2.145000	0.41830	3.899000	0.40339	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.649000	0.32665	0.1259:0.6928:0.1814:0.0	10.526	0.44135	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	320.44	101	chr9	114406373	.	C	G	320.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.687;DP=510;ExcessHet=0;FS=80.193;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.91;ReadPosRankSum=-0.531;SOR=6.736	GT:AD:DP:GQ:PL	0/1:149,19:169:99:331,0,5677	6	0	1	0
chr9	114406374	114406374	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1164C:p.R388S,WHRN:NM_001083885:exon9:c.G1068C:p.R356S,WHRN:NM_001173425:exon9:c.G2217C:p.R739S,WHRN:NM_015404:exon9:c.G2217C:p.R739S	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0237251287023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.249	0.34959	T	0.996	0.68779	D	0.956	0.69739	D	0.000003	0.62929	D	0.058524	0.999998	0.58761	D	2.485	0.72352	M	3.72	0.11082	T	-1.76	0.41618	N	0.794	0.79022	-1.1467	0.01127	T	0.071	0.28969	T	10	0.7061209	0.72749	D	0.023725	0.46702	T	0.246	0.55340	0.267	0.21418	0.465381546717	0.46164	0.546202977391294	0.54546	0.217767607061	0.24300	0.665198624134	0.62152	T	0.178877	0.52967	T	0.156707	0.69894	D	-0.0126771	0.69508	D	0.965095579624176	0.67160	D	0.918408	0.70674	D	0.43276304	0.62933	0.30041197	0.56075	0.43276304	0.62933	0.30041197	0.56074	-3.765	0.20655	T	.	.	0.861	0.82156	P	.;.;.	.;.;.	4.122777	0.61634	24.4	0.99728939135831174	0.82619	0.85209	0.44322	D	AEFDBI	0.404361	0.47768	N	0.490746823562894	0.66546	4.964436	0.418910173237003	0.62744	4.495032	0.999998553595518	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	4.38	0.52019	0.480000	0.21954	1.068000	0.23780	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.662000	0.33024	0.0:0.8454:0.0:0.1546	9.668	0.39158	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	525.18	104	chr9	114406374	.	C	G	525.18	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.975;DP=914;ExcessHet=1.1394;FS=125.612;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=0.699;SOR=9.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:128,28:165:99:.:.:344,0,5595:.	2	0	3	2
chr9	114406375	114406375	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1163C:p.R388T,WHRN:NM_001083885:exon9:c.G1067C:p.R356T,WHRN:NM_001173425:exon9:c.G2216C:p.R739T,WHRN:NM_015404:exon9:c.G2216C:p.R739T	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.0327677642762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.025	0.63918	D	1.0	0.90584	D	0.982	0.75477	D	0.000003	0.62929	D	0.058524	1	0.81001	D	2.485	0.72352	M	3.67	0.11947	T	-1.91	0.45042	N	0.816	0.81162	-1.0102	0.26854	T	0.111	0.39817	T	10	0.7625818	0.76459	D	0.032768	0.54504	D	0.328	0.65026	0.301	0.26843	0.629257994256	0.62622	0.515018125573271	0.51424	0.317085791368	0.33956	0.693475842476	0.66205	T	0.250673	0.62080	T	0.0954069	0.63792	D	-0.100731	0.63342	T	0.93917840719223	0.61041	D	0.923508	0.72088	D	0.42132396	0.62180	0.29035416	0.55058	0.42132396	0.62180	0.29035416	0.55057	-4.136	0.26316	T	.	.	0.663	0.73938	P	.;.;.	.;.;.	4.986942	0.82651	27.8	0.98226065711499799	0.39343	0.97842	0.77538	D	AEFDBI	0.694202	0.65328	D	0.672510807959941	0.77831	6.75116	0.61009073618077	0.75672	6.352084	0.999999999999999	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	5.29	0.74430	5.501000	0.66665	7.602000	0.61596	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.667000	0.33166	0.0:1.0:0.0:0.0	18.935	0.92554	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	255.09	59	chr9	114406375	.	C	G	255.09	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.267;DP=897;ExcessHet=0;FS=133.841;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.52;ReadPosRankSum=0.404;SOR=7.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:149,19:176:99:.:.:265,0,5709:.	6	0	1	0
chr9	114657732	114657732	C	A	exonic	TEX53	.	nonsynonymous SNV	TEX53:NM_001354645:exon1:c.G43T:p.G15W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs897180921	1.624e-05	9.542e-06	1.646e-05	1.602e-05	0.0001	4.8e-06	2.56e-06	.	.	0.0001	0.0001	0	0	0	0	0	0.0001	0	5.257e-05	5.253e-05	2.569e-05	8.071e-05	0.0002	2.557e-05	1.83e-05	9.565e-05	6.962e-05	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075912416	0.11794	T	.	.	.	.	.	.	.	.	.	5.266594420147596E-4	0.00048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471053	0.13966	T	0.03700261	0.04660	0.060716268	0.11608	0.03700261	0.04660	0.060716268	0.11608	-5.814	0.44696	T	.	.	0.292	0.52318	B	.	.	1.099996	0.14844	11.37	0.62737420101655306	0.07040	0.01861	0.05745	N	AEFBI	.	.	.	.	.	.	.	.	.	0.994134288691189	0.33503	0.080785	0.02172	0	0.097471	0.02872	0	0.060301	0.00762	0	0.10565	0.03146	0	0.0708573	0.16690	3.43	-2.0	0.07024	-0.978000	0.03888	-0.697000	0.07812	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1877:0.3247:0.0:0.4876	3.477	0.07155	775	0.48401	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	36.79	4	chr9	114657732	.	C	A	36.79	.	AC=2;AF=0.2;AN=10;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;QD=18.39;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	4	1	0	2
chr9	115084436	115084436	G	A	exonic	TNC	.	nonsynonymous SNV	TNC:NM_002160:exon4:c.C1904T:p.T635M	Deafness, autosomal dominant 56, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416	0.0808360596901	7.7e-05	.	4.958e-05	0	0	0	0	6.011e-05	0.0011	6.083e-05	6.47e-05	10	154602	rs375940361	4.925e-05	4.925e-05	5.173e-05	4.675e-05	0.0002	3.992e-05	3.669e-05	4.699e-05	4.281e-05	0	0	0	7.557e-05	0	0.0002	5.845e-05	3.311e-05	1.159e-05	2.629e-05	2.627e-05	1.285e-05	4.036e-05	7.239e-05	8.14e-06	5.14e-06	1.919e-05	1.032e-05	7.239e-05	0	0	0	0	0	0	1.47e-05	0	0	0.004	0.68238	D	0.001	0.92824	D	1.0	0.90584	D	0.996	0.88582	D	0.000000	0.84330	D	0.092011	0.999999	0.58761	D	3.23	0.89537	M	0.15	0.60734	T	-4.15	0.76576	D	0.662	0.73015	0.098	0.84136	D	0.506	0.81411	D	10	0.78250146	0.77971	D	0.080836	0.73550	D	0.416	0.72631	.	.	0.863698320943	0.86237	0.8091496846171459	0.80869	0.671780626533	0.59483	0.618885457516	0.55571	T	0.490273	0.81514	T	0.115833	0.65951	D	0.120292	0.78255	D	0.8244309999971	0.48103	D	0.985601	0.95568	D	0.3558316	0.57517	0.41968617	0.65955	0.3558316	0.57518	0.41968617	0.65955	-11.646	0.83084	D	0.5443687152201885	0.61364	0.220	0.47794	B	.;.;.;.;.;.	.;.;.;.;.;.	5.502524	0.91598	32	0.9993617718183031	0.99621	0.92625	0.56153	D	AEFBHCI	0.831389	0.74993	D	0.948979518603671	0.93944	12.388	0.899737602890719	0.95561	13.74057	0.999999999994967	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.93	5.93	0.95888	6.333000	0.72893	9.951000	0.82728	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:1.0:0.0	20.342	0.98770	551	0.72115	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1391.44	89	chr9	115084436	.	G	A	1391.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.369;DP=307;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=0.384;SOR=0.706	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	6	0	1	0
chr9	120820879	120820879	G	T	exonic	PSMD5	.	nonsynonymous SNV	PSMD5:NM_001270427:exon8:c.C1088A:p.P363H,PSMD5:NM_005047:exon9:c.C1217A:p.P406H	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.734	0.108736686907	.	0.000199681	5.881e-05	0.0007	0	0	0	0	0	0	5.17e-05	8	154602	rs186841024	2.338e-05	2.531e-05	2.464e-05	2.211e-05	0.0008	1.683e-05	1.485e-05	0.0006	0.0005	0.0008	4.821e-05	0	0	0	0.0005	0	3.332e-05	0	0.0002	0.0002	0.0002	0.0003	0.0008	0.0002	0.0001	0.0006	0.0005	0.0008	0	6.542e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.565	0.75005	M	0.4	0.57261	T	-8.03	0.96581	D	0.952	0.96072	-0.2147	0.77292	T	0.403	0.75352	T	10	0.81415653	0.80671	D	0.108737	0.78540	D	0.734	0.90721	.	.	0.937990821845	0.93734	0.6789525409665553	0.67834	0.50988881724	0.49125	0.693000793457	0.66136	T	0.387966	0.74876	T	0.0640077	0.60112	T	0.25169	0.85702	D	0.898459851741791	0.55056	D	0.908009	0.67517	D	0.8798967	0.89658	0.87159747	0.92976	0.8798967	0.89659	0.87159747	0.92977	-10.228	0.77568	D	.	.	0.825	0.79706	P	.;.;.	.;.;.	5.039546	0.83867	28.2	0.99723239762300386	0.82195	0.99568	0.97532	D	AEFDGBHI	0.860047	0.77784	D	0.988287138587022	0.95373	13.55803	0.967493603082054	0.97892	16.97886	0.99999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.97	5.97	0.96935	9.223000	0.94355	11.615000	0.93574	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:1.0:0.0	19.427	0.94738	964	0.07719	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	616.63	40	chr9	120820879	.	G	T	616.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.233;DP=226;ExcessHet=0;FS=1.007;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=0.148;SOR=0.735	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1229	6	0	1	0
chr9	121023460	121023460	G	T	exonic	C5	.	nonsynonymous SNV	C5:NM_001317163:exon10:c.C1078A:p.L360M,C5:NM_001317164:exon10:c.C1060A:p.L354M,C5:NM_001735:exon10:c.C1060A:p.L354M	C5 deficiency	0	1519	3	0	0	3	0.000986518	.	.	.	711738	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.149	.	0.0024	0.000998403	0.0052	0.0003	0.0006	0	0.0274	0.0063	0.0132	0.0002	0.0044437	687	154602	rs34552775	0.0036	0.0036	0.0034	0.0037	0.0031	0.0035	0.0034	0.0030	0.0029	0.0003	0.0012	0.0042	0	0.0258	0.0029	0.0031	0.0034	0.0003	0.0045	0.0046	0.0035	0.0056	0.0049	0.0043	0.0041	0.0044	0.0043	0.0003	0	0.0007	0.0049	0	0.0291	0	0.0049	0.0057	0	0.011	0.55530	D	0.025	0.56192	D	0.997	0.70673	D	0.916	0.65201	D	0.000246	0.46924	D	0.147796	0.879377	0.35719	D	3.36	0.91202	M	1.21	0.37230	T	-1.39	0.34397	N	0.346	0.38746	-0.6816	0.61298	T	0.197	0.55201	T	10	0.0069331825	0.00158	T	.	.	.	0.149	0.39377	.	.	0.44750879378	0.44372	0.690322127356014	0.68972	0.427738866487	0.43110	0.572914481163	0.49089	T	0.149609	0.48868	T	-0.426661	0.01553	T	-0.378539	0.35892	T	0.198847398161888	0.20353	T	0.750425	0.37198	T	0.31985053	0.54628	0.15409584	0.36181	0.31985053	0.54628	0.15409584	0.36180	-6.446	0.49868	T	.	.	0.184	0.39865	B	.	.	3.093698	0.41662	21.4	0.99632504173630376	0.76142	0.33573	0.24860	N	AEFGBHCI	0.301270	0.40984	N	0.310144752404355	0.56669	3.831933	0.184187195859809	0.48979	3.106916	0.999997342182195	0.74766	0.65861	0.49226	0	0.688826	0.66785	0	0.615948	0.41167	0	0.759125	0.99760	0	.	.	5.64	2.75	0.31439	0.201000	0.17074	1.470000	0.26746	0.676000	0.76740	0.049000	0.21372	0.851000	0.27392	1.000000	0.97212	0.2213:0.1441:0.6346:0.0	5.786	0.17599	951	0.11083	.	.	.	.	.	rs34552775	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	545.44	34	chr9	121023460	.	G	T	545.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.582;DP=258;ExcessHet=0;FS=0.895;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.82;ReadPosRankSum=0.504;SOR=0.56	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1290	6	0	1	0
chr9	121158119	121158119	T	C	exonic	CNTRL	.	stoploss	CNTRL:NM_001369894:exon30:c.T4831C:p.X1611Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.376e-05	0	0	0.0004	0	0	0	6.118e-05	2.59e-05	4	154602	rs755095776	3.356e-05	3.352e-05	3.68e-05	3.028e-05	0.0011	2.569e-05	2.314e-05	0.0008	0.0007	9.024e-05	0	0	0.0011	0	0	0	1.659e-05	3.484e-05	2.628e-05	2.627e-05	5.138e-05	0	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	298.49	10	chr9	121158119	.	T	C	298.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.641;DP=132;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.9;ReadPosRankSum=-2.289;SOR=0.818	GT:AD:DP:GQ:PL	0/0:23,0:23:60:0,60,900	6	0	1	0
chr9	121171515	121171515	G	T	exonic	CNTRL	.	nonsynonymous SNV	CNTRL:NM_001330762:exon29:c.G4728T:p.Q1576H,CNTRL:NM_007018:exon40:c.G6384T:p.Q2128H	.	430	1090	2	0	0	2	0.00091659	.	.	.	700780	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.136	.	0.0051	0.00359425	0.0012	0.0143	0.0002	0	0	0	0	6.364e-05	0.001119	173	154602	rs144962521	0.0005	0.0005	0.0005	0.0004	0.0164	0.0004	0.0004	0.0152	0.0148	0.0164	0.0006	0	0	0	0.0010	1.169e-05	0.0011	4.639e-05	0.0044	0.0045	0.0044	0.0045	0.0155	0.0042	0.0041	0.0145	0.0141	0.0155	0	0.0016	0	0	0	0	5.88e-05	0.0019	0	0.11	0.29158	T	0.01	0.65728	D	0.996	0.68779	D	0.887	0.62952	P	.	.	.	.	0.999928	0.52935	D	2.725	0.79712	M	1.61	0.35031	T	-1.32	0.32991	N	0.444	0.50598	-1.0087	0.27323	T	0.079	0.31254	T	9	0.005697429	0.00127	T	.	.	.	0.136	0.36778	0.087	0.00904	0.416454006429	0.41261	0.10865653285618719	0.10794	0.309971528438	0.33310	0.395209729671	0.24401	T	0.017111	0.14019	T	-0.481708	0.00723	T	-0.45304	0.27360	T	0.0300734373727408	0.02001	T	0.846915	0.55036	T	0.2016516	0.42183	0.170391	0.39144	0.2016516	0.42183	0.170391	0.39143	-4.971	0.37420	T	.	.	0.206	0.45786	B	.;.;.;.	.;.;.;.	3.940967	0.57670	23.9	0.99752765318311021	0.84382	0.96999	0.72108	D	AEFDGBIJ	0.338269	0.43580	N	0.650894531572157	0.76425	6.484452	0.661833237113745	0.79494	7.094434	0.999999999939843	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.616094	0.41390	0	0.342787	0.05754	3	.	.	5.91	5.91	0.95240	2.356000	0.43770	5.897000	0.50837	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	18.869	0.92277	897	0.25382	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	809.27	33	chr9	121171515	.	G	T	809.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.391;DP=242;ExcessHet=0;FS=0.96;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.799;SOR=0.534	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1078	5	0	1	1
chr9	121773247	121773247	C	T	exonic	DAB2IP	.	nonsynonymous SNV	DAB2IP:NM_138709:exon10:c.C2347T:p.R783W,DAB2IP:NM_032552:exon12:c.C2635T:p.R879W	.	382	1138	2	0	0	2	0.000877963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	.	0.0063	0.00299521	0.0049	0.0021	0.0052	0	0.0541	0.0099	0.0159	0.0012	0.0035316	546	154602	rs56200518	0.0089	0.0087	0.0091	0.0086	0.0105	0.0087	0.0087	0.0103	0.0103	0.0013	0.0019	0.0007	0	0.0108	0.0008	0.0105	0.0054	0.0015	0.0059	0.0059	0.0062	0.0057	0.0100	0.0056	0.0055	0.0094	0.0092	0.0019	0.0055	0.0014	0.0003	0.0002	0.0089	0	0.0100	0.0052	0.0012	0.004	0.65419	D	0.017	0.60337	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.998793	0.48338	D	3.245	0.89746	M	2.57	0.13552	T	-3.82	0.71997	D	0.773	0.77039	-1.0874	0.05978	T	0.069	0.28147	T	10	0.008497626	0.00192	T	.	.	.	0.248	0.55615	.	.	0.586360121981	0.58309	0.6143580991708928	0.61367	0.676827167386	0.59798	0.919709444046	0.98301	D	0.276945	0.64954	T	-0.270245	0.11730	T	-0.149933	0.59250	T	0.0534955095472123	0.06103	T	0.984002	0.94786	D	0.2588213	0.48933	0.21386802	0.45915	0.2588213	0.48933	0.21386802	0.45914	-6.637	0.51357	T	.	.	0.723	0.73897	P	.;.;.;.;.	.;.;.;.;.	3.712730	0.53010	23.3	0.99870744953052681	0.94815	0.59337	0.30887	D	AEFBI	0.397353	0.47346	N	-0.0127095283675204	0.41281	2.466332	-0.208441860682112	0.31230	1.765591	0.999773461258034	0.42865	0.706548	0.73137	0	0.610034	0.51514	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.67	1.26	0.20534	1.064000	0.30189	1.515000	0.27051	0.549000	0.26987	0.827000	0.30089	0.783000	0.26796	0.933000	0.47100	0.5356:0.4644:0.0:0.0	13.064	0.58433	962	0.08456	.;Domain of unknown function DUF3498;Domain of unknown function DUF3498;.;.	TRAF1	Cells_Cultured_fibroblasts	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002070	0.000000	0.001385	0.005952	0.000000	0.000000	0.003185	0.000000	0.07143	890.44	34	chr9	121773247	.	C	T	890.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.704;DP=275;ExcessHet=0;FS=4.165;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=0.087;SOR=0.469	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	6	0	1	0
chr9	122390342	122390342	G	A	exonic	PTGS1	.	nonsynonymous SNV	PTGS1:NM_001271164:exon9:c.G1297A:p.V433I,PTGS1:NM_001271165:exon9:c.G1114A:p.V372I,PTGS1:NM_000962:exon10:c.G1441A:p.V481I,PTGS1:NM_001271166:exon10:c.G1003A:p.V335I,PTGS1:NM_001271367:exon10:c.G1003A:p.V335I,PTGS1:NM_080591:exon10:c.G1330A:p.V444I,PTGS1:NM_001271368:exon11:c.G1255A:p.V419I	.	412	1099	10	1	0	12	0.00542986	.	.	.	3185198	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.250	.	0.0058	0.00658946	0.0076	0.0020	0.0057	0.0004	0.0068	0.0100	0.0057	0.0065	0.0073932	1143	154602	rs5794	0.0082	0.0082	0.0081	0.0082	0.0088	0.0080	0.0080	0.0086	0.0086	0.0024	0.0058	0.0118	0.0003	0.0074	0.0064	0.0088	0.0072	0.0076	0.0063	0.0063	0.0061	0.0064	0.0086	0.0060	0.0058	0.0080	0.0078	0.0025	0	0.0080	0.0081	0	0.0051	0.0136	0.0086	0.0095	0.0085	0.004	0.78490	D	0.01	0.76473	D	0.1	0.25713	B	0.108	0.31289	B	0.000066	0.52346	D	0.197844	0.963965	0.26002	N	0	0.06538	N	2.99	0.09262	T	-0.92	0.25118	N	0.225	0.25377	-1.0157	0.25110	T	0.012	0.04747	T	10	0.009871095	0.00221	T	.	.	.	0.250	0.55888	.	.	0.442363741745	0.43858	0.632608548182357	0.63194	0.271975426216	0.29707	0.484568476677	0.36686	T	0.136546	0.46898	T	-0.416541	0.01800	T	-0.360721	0.37969	T	0.0620336465735846	0.07485	T	0.873013	0.60027	D	0.2699408	0.50066	0.15628308	0.36596	0.2699408	0.50066	0.15628308	0.36595	-1.917	0.02914	T	.	.	0.105	0.24054	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.622330	0.34083	19.53	0.99004802753294774	0.50231	0.17537	0.19880	N	AEFDGBCIJ	0.092179	0.18663	N	-0.362090131955795	0.26831	1.467337	-0.184664653741837	0.32098	1.822901	0.999999998826456	0.74766	0.740787	0.97801	0	0.696367	0.67918	0	0.651303	0.49530	0	0.635259	0.50027	0	.	.	5.38	4.25	0.49658	7.512000	0.80617	8.123000	0.76630	-0.116000	0.14526	1.000000	0.71638	1.000000	0.68203	0.830000	0.39126	0.9178:0.0:0.0822:0.0	9.787	0.39849	896	0.25515	.;.;.;.;.;.;.	.	.	PTGS1	Cells_Cultured_fibroblasts	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014617	0.030303	0.005435	0.020468	0.000000	0.017241	0.015337	0.015152	0.1429	1460.04	35	chr9	122390342	.	G	A	1460.04	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.662;DP=255;ExcessHet=0.3476;FS=0.703;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=0.619;SOR=0.607	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	5	0	2	0
chr9	122511447	122511447	-	TA	exonic	OR1J2	.	frameshift insertion	OR1J2:NM_054107:exon1:c.646_647insTA:p.S217Yfs*11	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	8.593e-06	0	0	0	0	1.527e-05	0	0	6.5e-06	1	154602	rs777178879	6.385e-06	6.36e-06	3.506e-06	8.79e-06	0.0002	1.49e-06	1.01e-06	2.29e-06	6.3e-07	0	0	0	0	0	0.0002	8.594e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1373.4	85	chr9	122511447	.	G	GTA	1373.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.939;DP=283;ExcessHet=0;FS=2.902;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.16;ReadPosRankSum=-0.794;SOR=0.927	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr9	122615206	122615206	A	C	exonic	OR1Q1	.	nonsynonymous SNV	OR1Q1:NM_012364:exon1:c.A469C:p.M157L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00137238940246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.031313	0.25186	N	0.193985	1	0.08975	N	-1.81	0.00285	N	9.13	0.00014	T	1.36	0.00878	N	0.069	0.04188	-0.9607	0.39050	T	0.000	0.00039	T	10	0.025236368	0.00724	T	0.001372	0.01986	T	0.024	0.04979	0.438	0.49157	0.218845423259	0.21516	0.0536235130828821	0.05304	0.12711569095	0.14323	0.19764688611	0.00392	T	0.001386	0.00849	T	-0.362761	0.03976	T	-0.758858	0.03153	T	0.0720846268240636	0.08941	T	0.519848	0.16911	T	0.08231871	0.18959	0.078095466	0.17460	0.08231871	0.18959	0.078095466	0.17460	-1.827	0.02591	T	.	.	0.073	0.04558	B	.	.	0.164493	0.05545	2.004	0.57708355791029742	0.05829	0.01431	0.04816	N	AEFGI	0.028668	0.02568	N	-1.54920529213411	0.01539	0.06723995	-1.42674266363112	0.02987	0.1384998	4.1549165222726E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.58	0.702	0.17269	-1.417000	0.02571	-0.644000	0.08062	-0.186000	0.09761	0.000000	0.06391	0.000000	0.08366	0.051000	0.15275	0.1299:0.5815:0.0:0.2886	5.416	0.15672	958	0.09170	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	3092.44	89	chr9	122615206	.	A	C	3092.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.713;DP=856;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-0.65;SOR=0.706	GT:AD:DP:GQ:PL	0/1:127,130:257:99:3103,0,3388	6	0	1	0
chr9	122629244	122629244	G	A	exonic	OR1B1	.	nonsynonymous SNV	OR1B1:NM_001004450:exon1:c.C292T:p.R98C	.	430	1082	4	0	6	10	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00576401500878	.	.	9.068e-05	0	0.0002	0	0	4.498e-05	0	0.0004	7.12e-05	11	154602	rs140947515	9.44e-05	9.44e-05	7.623e-05	0.0001	0.0014	8.134e-05	7.65e-05	0.0007	0.0005	8.961e-05	0.0004	0	2.519e-05	0	0.0014	4.946e-05	0.0001	0.0005	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	9.248e-05	0.0007	0.0005	2.415e-05	0	0.0010	0	0	0	0	5.88e-05	0	0.0006	.	.	.	.	.	.	0.002	0.09854	B	0.003	0.08700	B	0.000770	0.41888	D	0.000000	1	0.08975	N	0.44	0.12706	N	.	.	.	.	.	.	.	.	-0.9428	0.42169	T	0.007	0.02518	T	10	0.044311166	0.03374	T	0.005764	0.14952	T	.	.	0.498	0.58835	.	.	0.230583275194321	0.22973	.	.	0.179950609803	0.00093	T	0.003297	0.02698	T	-0.518276	0.00450	T	-0.660278	0.08247	T	0.0260467574790921	0.01412	T	0.574842	0.20648	T	0.109451935	0.25876	0.08497214	0.19586	0.109451935	0.25876	0.08497214	0.19586	-4.557	0.31627	T	.	.	0.164	0.36113	B	.	.	1.213114	0.16064	12.29	0.91353405559376011	0.20616	0.07230	0.13254	N	AEFBI	0.116067	0.22795	N	-1.02892383216897	0.08007	0.3739591	-1.00342778519814	0.09710	0.4846445	2.65190922735659E-4	0.06244	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.3	2.4	0.28568	0.117000	0.15414	-5.758000	0.01606	-0.107000	0.15377	0.000000	0.06391	0.000000	0.08366	0.148000	0.20235	0.0926:0.4433:0.4641:0.0	7.850	0.28611	964	0.07719	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2194.44	44	chr9	122629244	.	G	A	2194.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.92;DP=546;ExcessHet=0;FS=0.565;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=1.34;SOR=0.721	GT:AD:DP:GQ:PL	0/1:87,82:169:99:2205,0,2065	6	0	1	0
chr9	122724108	122724108	C	T	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.C119T:p.A40V	.	435	1071	16	0	0	16	0.00741427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.000748963533408	0.0027	0.000599042	0.0023	0.0005	0.0021	0	0.0009	0.0036	0.0066	6.056e-05	0.0023092	357	154602	rs146545088	0.0030	0.0030	0.0030	0.0031	0.0146	0.0030	0.0029	0.0121	0.0111	0.0010	0.0031	0.0038	2.519e-05	0.0007	0.0146	0.0034	0.0035	0.0002	0.0026	0.0026	0.0029	0.0022	0.0039	0.0024	0.0023	0.0035	0.0034	0.0005	0	0.0038	0.0052	0	0.0008	0.0238	0.0039	0.0052	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.594232	0.05609	N	1.287100	1	0.08975	N	-2.41	0.00072	N	7.54	0.00377	T	1.81	0.00507	N	0.038	0.01203	-1.0034	0.28933	T	0.000	0.00114	T	10	0.0036976635	0.00068	T	7.49E-4	0.00529	T	0.105	0.29889	.	.	0.369495900351	0.36555	0.03103591808030237	0.03052	0.108973934353	0.12287	0.209076374769	0.00773	T	0.00488	0.04301	T	-0.714905	0.00030	T	-0.793998	0.02057	T	0.00537569386103117	0.00058	T	0.484852	0.14769	T	0.038250286	0.05060	0.050322346	0.07875	0.038250286	0.05060	0.050322346	0.07875	0.279	0.00264	T	.	.	0.064	0.01668	B	.	.	0.301056	0.06766	3.284	0.097914429460664407	0.00108	0.00125	0.00780	N	AEFGBI	0.021972	0.01042	N	-1.54536688185012	0.01562	0.06823426	-1.37935589123372	0.03473	0.1620622	0.122632238763286	0.16918	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.94	2.8	0.31881	4.085000	0.57380	1.978000	0.30020	-0.876000	0.02500	0.519000	0.27104	0.034000	0.21380	0.152000	0.20376	0.0:0.0967:0.0:0.9033	8.539	0.32540	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015121	0.015152	0.023098	0.014706	0.000000	0.017241	0.006098	0.000000	0.07143	45.44	33	chr9	122724108	.	C	T	45.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.153;DP=306;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.01;MQRankSum=0.349;QD=4.13;ReadPosRankSum=0.778;SOR=1.179	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1145	6	0	1	0
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00143063714583	.	.	6.622e-05	0	0.0002	0.0001	0.0002	6.017e-05	0	0	3.84e-05	1	26028	rs748975619	0.0001	0.0021	7.836e-05	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.132e-05	0.0002	7.963e-05	0.0002	4.349e-05	0.0008	0.0002	0.0003	3.688e-05	0.0002	0.0017	0.0001	0.0002	0.0005	0.0001	8.825e-05	8.643e-05	4.843e-05	0.0001	0	0.0002	0	0.0002	0.0003	0	0.0001	0	0.0005	0.066	0.36113	T	0.063	0.45110	T	0.002	0.09854	B	0.012	0.16012	B	0.119040	0.19091	N	0.433255	1	0.08975	N	2.24	0.63355	M	8.47	0.00218	T	-3.71	0.70674	D	0.163	0.17140	-0.9813	0.34701	T	0.000	0.00152	T	10	0.08632538	0.14663	T	0.001431	0.02139	T	0.060	0.17295	.	.	0.380730819819	0.37686	0.050310918284802233	0.04974	0.137390497862	0.15494	0.204048782587	0.00584	T	0.018055	0.14619	T	-0.26113	0.12768	T	-0.612872	0.11753	T	0.0930222347378731	0.11572	T	0.328467	0.06836	T	0.12669528	0.29668	0.18975647	0.42339	0.12669528	0.29667	0.18975647	0.42339	-5.477	0.41653	T	.	.	0.162	0.35767	B	.	.	1.361823	0.17710	13.32	0.37116804741921844	0.02427	0.22928	0.21909	N	AEFGBI	0.092843	0.18792	N	-1.18873539693136	0.05170	0.2350358	-1.18788360110161	0.06111	0.2931782	0.00732444700759022	0.11439	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	3.09	0.34677	0.354000	0.19885	0.254000	0.16463	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.1836:0.0:0.8164	7.537	0.26888	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.066465	0.232323	0.014946	0.032164	0.150000	0.008621	0.100610	0.034091	0.3333	734.64	202	chr9	122724732	.	T	C	734.64	.	AC=2;AF=0.333;AN=6;BaseQRankSum=6.21;DP=1379;ExcessHet=0.3476;FS=15.837;MLEAC=3;MLEAF=0.5;MQ=58.3;MQRankSum=-1.645;QD=5.07;ReadPosRankSum=-1.645;SOR=2.537	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:321,0:321:0:.:.:0,0,8493:.	1	0	2	4
chr9	122724738	122724738	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T749C:p.V250A	.	428	1012	82	0	0	82	0.0389364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00138298223274	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs773750205	4.128e-06	0.0017	4.098e-06	4.158e-06	4.494e-05	1.49e-06	9.8e-07	7.45e-06	2.79e-06	2.995e-05	4.494e-05	0	2.533e-05	0	0	9.039e-07	1.665e-05	0	2.725e-05	0.0009	3.982e-05	1.4e-05	0.0002	8.37e-06	5.29e-06	.	.	2.5e-05	0	0	0	0	0.0002	0	0	0	0.0002	0.56	0.06381	T	0.334	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.363490	0.04318	N	1.430160	1	0.08975	N	-0.355	0.03127	N	0.93	0.44065	T	0.28	0.04233	N	0.048	0.01999	-1.0082	0.27479	T	0.042	0.17994	T	10	0.027532607	0.00898	T	0.001383	0.02011	T	0.010	0.01040	.	.	0.146414634003	0.14194	0.029921180382566498	0.02941	0.133905216648	0.15082	0.228572815657	0.01864	T	0.008154	0.07505	T	-0.373075	0.03441	T	-0.773673	0.02649	T	0.0352781535904976	0.02857	T	0.0471953	0.00337	T	0.018524058	0.00374	0.028399432	0.01073	0.018524058	0.00374	0.028399432	0.01073	-3.488	0.16265	T	.	.	0.091	0.13127	B	.	.	-1.366501	0.00385	0.007	0.26517900806360473	0.01274	0.00656	0.02847	N	AEFGBI	0.051091	0.08994	N	-1.92157175688344	0.00310	0.01331125	-1.9879660246432	0.00325	0.01433726	0.679012312914238	0.22457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	-7.85	0.01056	-3.495000	0.00503	-12.828000	0.00498	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2704:0.1842:0.5455	8.760	0.33827	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	528.19	195	chr9	122724738	.	T	C	528.19	.	AC=1;AF=0.125;AN=8;BaseQRankSum=3.33;DP=753;ExcessHet=0;FS=21.45;MLEAC=1;MLEAF=0.125;MQ=58.14;MQRankSum=-10.87;QD=3.88;ReadPosRankSum=-4.356;SOR=4.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,102,1530:.	3	0	1	3
chr9	123035413	123035413	C	T	exonic	GPR21	.	nonsynonymous SNV	GPR21:NM_005294:exon2:c.C847T:p.R283C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	.	0.0002	0.000998403	0.0011	0.0002	0	0	0.0139	0.0006	0.0022	6.057e-05	0.0009056	140	154602	rs139223372	0.0006	0.0006	0.0006	0.0006	0.0003	0.0005	0.0005	0.0002	0.0001	0.0003	2.236e-05	0	0	0.0138	0	6.565e-05	0.0005	1.159e-05	0.0011	0.0011	0.0006	0.0016	0.0001	0.0009	0.0009	6.804e-05	5.087e-05	2.406e-05	0	6.537e-05	0	0	0.0142	0	0.0001	0	0	0.049	0.39820	D	0.098	0.39040	T	0.997	0.70673	D	0.862	0.61339	P	0.006252	0.32164	U	0.260617	1	0.81001	D	0.865	0.21413	L	-0.69	0.72678	T	-0.87	0.23590	N	0.399	0.50868	-0.2955	0.75110	T	0.343	0.70827	T	10	0.0051970184	0.00113	T	.	.	.	0.337	0.65913	.	.	0.305926609036	0.30200	0.35648180420822434	0.35562	0.619389203254	0.56290	0.291958421469	0.09208	T	0.020072	0.15869	T	-0.240965	0.15225	T	-0.238968	0.50899	T	0.0391137502074809	0.03530	T	0.694431	0.30396	T	0.12943973	0.30233	0.085060835	0.19613	0.12943973	0.30233	0.085060835	0.19612	-7.255	0.55875	T	.	.	0.378	0.60057	A	.;.	.;.	5.343409	0.89648	31	0.99892103315143221	0.96589	0.87727	0.47364	D	AEFGBCIJ	0.556123	0.56628	D	0.618616356861233	0.74352	6.118234	0.655394161930387	0.79014	6.993528	0.999999996668251	0.74766	0.522611	0.21652	0	0.446627	0.06534	0	0.54472	0.12158	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	3.709000	0.54582	7.738000	0.67953	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	20.349	0.98808	883	0.28872	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1017.44	86	chr9	123035413	.	C	T	1017.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.58;DP=275;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-3.52;SOR=0.722	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1251	6	0	1	0
chr9	124540183	124540183	G	A	exonic	NR6A1	.	nonsynonymous SNV	NR6A1:NM_001278546:exon5:c.C434T:p.S145L,NR6A1:NM_001489:exon5:c.C434T:p.S145L,NR6A1:NM_033334:exon5:c.C446T:p.S149L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.449	0.439710793543	.	.	1.669e-05	0	0	0.0001	0	0	0	6.506e-05	1.94e-05	3	154602	rs535696393	1.096e-05	1.163e-05	8.176e-06	1.377e-05	5.047e-05	6.49e-06	5.25e-06	8.36e-06	4.55e-06	0	0	0	5.047e-05	0	0	1.08e-05	1.657e-05	1.165e-05	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.004	0.68238	D	0.018	0.59732	D	0.894	0.57405	P	0.217	0.49293	B	0.000001	0.84330	D	0.056292	1	0.81001	D	0.975	0.24501	L	-3.14	0.94469	D	-1.71	0.41046	N	0.431	0.47208	0.576	0.91585	D	0.803	0.93351	D	10	0.67038536	0.70677	D	0.439711	0.94141	D	0.449	0.75004	0.33	0.31519	0.660972672452	0.65812	0.5736202807456728	0.57291	0.635511397756	0.57364	0.812	0.83875	D	0.369078	0.73386	T	0.0775062	0.61747	D	0.042684	0.73103	D	0.6258185505867	0.37445	D	0.983802	0.95824	D	0.25181758	0.48193	0.25978473	0.51733	0.25181758	0.48193	0.25978473	0.51732	-10.634	0.78353	D	.	.	0.587	0.75736	P	.;.;.;.;.	.;.;.;.;.	4.970346	0.82252	27.7	0.99853260340874883	0.93279	0.99021	0.90073	D	AEFGBI	0.922083	0.89653	D	0.621590812527392	0.74540	6.150403	0.706101438109237	0.82844	7.868458	0.99999999999999	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.530356	0.10902	0	.	.	5.99	5.99	0.97299	9.317000	0.95419	11.745000	0.95278	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.466	0.94931	742	0.52873	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1652.46	33	chr9	124540183	.	G	A	1652.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.04;DP=300;ExcessHet=0;FS=0.71;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.362;SOR=0.787	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,101,1575	6	0	1	0
chr9	125220560	125220560	C	A	exonic	RABEPK	.	nonsynonymous SNV	RABEPK:NM_001174153:exon5:c.C233A:p.P78Q,RABEPK:NM_005833:exon5:c.C386A:p.P129Q,RABEPK:NM_001174152:exon6:c.C386A:p.P129Q	.	424	1056	38	4	0	46	0.021316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	.	0.0032	0.0131789	0.0108	0.0023	0.0273	0.0366	0.0003	0.0027	0.0099	0.0280	0.0099352	1536	154602	rs74769898	0.0060	0.0060	0.0055	0.0066	0.0350	0.0059	0.0059	0.0335	0.0328	0.0019	0.0264	0.0047	0.0350	0.0002	0.0232	0.0029	0.0067	0.0272	0.0059	0.0059	0.0052	0.0067	0.0292	0.0056	0.0055	0.0254	0.0239	0.0016	0	0.0235	0.0058	0.0292	0	0.0171	0.0028	0.0033	0.0217	0.043	0.57480	D	0.051	0.61642	T	1.0	0.90584	D	0.99	0.78936	D	0.006842	0.31758	N	0.363683	0.999446	0.47080	D	3.72	0.94773	H	0.97	0.66294	T	-4.42	0.84175	D	0.662	0.67132	-1.0783	0.07681	T	0.028	0.12014	T	10	0.0064848065	0.00147	T	.	.	.	0.221	0.51721	.	.	.	.	0.6740180901266283	0.67339	0.233025175349	0.25843	0.377287000418	0.21871	T	0.08909	0.44184	T	-0.249871	0.14115	T	-0.105936	0.62934	T	0.0934891749203669	0.11626	T	0.733327	0.38041	T	0.522306	0.68392	0.43743414	0.67163	0.522306	0.68393	0.43743414	0.67163	-10.065	0.77970	D	.	.	0.174	0.62994	B	.;.;.;.	.;.;.;.	4.352240	0.66859	25.0	0.99131009604192399	0.53249	0.96984	0.72022	D	AEFDGBI	0.664585	0.63370	D	0.31568777204679	0.56953	3.861072	0.418815872447802	0.62737	4.494331	0.999843403595419	0.43971	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	4.807000	0.62267	7.675000	0.64997	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.737000	0.35335	0.0:1.0:0.0:0.0	18.832	0.92112	849	0.35778	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025176	0.005051	0.027174	0.043860	0.050000	0.025862	0.015244	0.022727	0.07143	963.44	93	chr9	125220560	.	C	A	963.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.863;DP=299;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-2.19;SOR=0.771	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	6	0	1	0
chr9	127383495	127383497	CTT	-	exonic	GARNL3	.	nonframeshift deletion	GARNL3:NM_032293:exon23:c.2219_2221del:p.S741del,GARNL3:NM_001286779:exon24:c.2153_2155del:p.S719del	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2152.41	36	chr9	127383494	.	CCTT	C	2152.41	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.36;DP=327;ExcessHet=0;FS=0.63;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=0.931;SOR=0.782	GT:AD:DP:GQ:PL	0/1:85,58:143:99:2163,0,3374	6	0	1	0
chr9	127507219	127507219	C	A	exonic	NIBAN2	.	nonsynonymous SNV	NIBAN2:NM_001035534:exon14:c.G1828T:p.V610F,NIBAN2:NM_022833:exon14:c.G1867T:p.V623F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0446255213125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	1.368e-06	1.363e-06	1.377e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.004	0.74150	D	0.934	0.52202	P	0.723	0.54990	P	0.000002	0.62929	D	0.057830	0.989748	0.41014	D	2.83	0.82355	M	1.46	0.32238	T	-2.05	0.47008	N	0.449	0.48780	-1.0183	0.24269	T	0.119	0.41669	T	10	0.28260434	0.45839	T	0.044626	0.61582	D	0.142	0.37995	0.265	0.21103	0.373357554552	0.36949	0.6499508387840695	0.64931	1.02440607633	0.75223	0.766363382339	0.76880	T	0.17411	0.52321	T	-0.0632794	0.42392	T	-0.328673	0.41616	T	0.982524812221527	0.74544	D	0.911209	0.68535	D	0.2115825	0.43487	0.16908644	0.38917	0.2115825	0.43487	0.16908644	0.38916	-6.849	0.52923	T	.	.	0.478	0.67407	A	.;.	.;.	3.369197	0.46553	22.3	0.99612827669699333	0.74932	0.90884	0.52443	D	AEFGBHCI	0.647810	0.62286	D	0.302194617090589	0.56262	3.790555	0.274565242788951	0.54059	3.572052	0.999999977889547	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.25	3.37	0.37692	2.142000	0.41802	1.607000	0.27615	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.8546:0.0:0.1454	10.739	0.45342	523	0.74147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	819.49	34	chr9	127507219	.	C	A	819.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.474;DP=262;ExcessHet=0;FS=1.843;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=1.19;SOR=0.968	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1213	6	0	1	0
chr9	127707148	127707148	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G117C:p.E39D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00511713534183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	4.926e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.133	0.34359	T	0.58	0.38813	P	0.16	0.34752	B	0.011693	0.29437	N	0.400143	0.937019	0.26902	N	.	.	.	0.85	0.47130	T	-2.13	0.48354	N	0.253	0.28616	-1.0776	0.07821	T	0.089	0.34271	T	10	0.15869087	0.29835	T	0.005117	0.13001	T	0.048	0.13305	0.117	0.02508	0.511220899679	0.50763	0.22389107574446282	0.22304	0.665481085244	0.59146	.	.	.	0.083009	0.36958	T	-0.233602	0.16174	T	-0.573329	0.15145	T	0.768105268478394	0.44326	D	0.642936	0.25461	T	0.07620602	0.17219	0.08653153	0.20054	0.07620602	0.17219	0.08653153	0.20054	-5.906	0.47647	T	.	.	0.170	0.37312	B	.;.	.;.	1.611943	0.20598	14.82	0.99153328533649743	0.53875	0.62448	0.31784	D	AEFDGBCI	0.199371	0.32618	N	-0.115357649790928	0.36724	2.126585	-0.0733379664216469	0.36497	2.124728	0.999992507834303	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	2.23	0.27189	0.091000	0.14885	0.384000	0.17813	0.649000	0.52879	0.993000	0.37899	0.958000	0.29226	0.883000	0.42306	0.3494:0.0:0.4698:0.1808	3.228	0.06340	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	93.03	30	chr9	127707148	.	G	C	93.03	.	AC=1;AF=0.25;AN=4;BaseQRankSum=0.127;DP=193;ExcessHet=0;FS=106.325;MLEAC=2;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.6;ReadPosRankSum=1.42;SOR=6.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:40,18:58:98:.:.:98,0,502:.	1	0	1	5
chr9	127707149	127707149	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T118C:p.F40L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.019678184343	.	.	8.323e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs757079161	0.0001	0.0036	0.0001	8.536e-05	0.0002	9.346e-05	8.764e-05	0.0001	9.824e-05	9.678e-05	0	0	2.569e-05	0	0	0.0001	5.349e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.191	0.28391	T	0.957	0.54824	D	0.799	0.58136	P	0.000003	0.62929	N	0.105467	0.999583	0.47691	D	.	.	.	1.01	0.41058	T	-5.4	0.85103	D	0.489	0.52829	-0.8745	0.50188	T	0.164	0.50078	T	10	0.3438111	0.51386	T	0.019678	0.42104	T	0.159	0.41286	0.15	0.05339	0.612519348966	0.60940	0.6570251018140777	0.65639	0.875989159395	0.69568	.	.	.	0.327925	0.69838	T	-0.210031	0.19374	T	-0.357944	0.38290	T	0.938539505004883	0.60923	D	0.579842	0.20971	T	0.85248286	0.87520	0.67909664	0.81148	0.85248286	0.87521	0.67909664	0.81149	-9.512	0.72170	D	.	.	0.947	0.86617	P	.;.	.;.	4.218635	0.63791	24.6	0.99813715176146511	0.89708	0.79497	0.39404	D	AEFDGBCI	0.430877	0.49340	N	0.327399038086192	0.57559	3.923681	0.314456036050452	0.56389	3.802111	0.999999899276312	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	4.33	0.51083	4.073000	0.57290	3.987000	0.40955	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0:0.0857:0.0:0.9143	9.215	0.36505	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	189.45	30	chr9	127707149	.	T	C	189.45	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-1.033;DP=198;ExcessHet=0;FS=70.686;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=3.11;ReadPosRankSum=1.42;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,13:61:99:0|1:127707149_T_C:196,0,1731:127707149	2	0	1	4
chr9	127707150	127707150	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T119C:p.F40S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.0295012344328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.025e-05	0.0013	2.604e-05	1.446e-05	3.126e-05	1.404e-05	1.209e-05	1.739e-05	1.477e-05	3.126e-05	0	0	0	0	0	2.5e-05	0	1.182e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.053	0.47336	T	1.0	0.90584	D	0.993	0.81110	D	0.000003	0.62929	D	0.105467	0.99989	0.50595	D	.	.	.	1.1	0.39050	T	-7.17	0.94145	D	0.892	0.90025	-0.7757	0.56542	T	0.227	0.59233	T	10	0.62868714	0.68391	D	0.029501	0.51995	D	0.321	0.64318	0.292	0.25400	0.617737460462	0.61464	0.8563961070607592	0.85602	1.09668489094	0.77603	.	.	.	0.333157	0.70304	T	0.256066	0.79166	D	0.130044	0.78896	D	0.995957314968109	0.88384	D	0.631737	0.24648	T	0.883188	0.89932	0.88241297	0.93731	0.883188	0.89933	0.88241297	0.93731	-12.272	0.88445	D	.	.	0.839	0.79209	P	.;.	.;.	4.916668	0.80938	27.4	0.99871547018832008	0.94902	0.88781	0.48875	D	AEFDGBCI	0.697108	0.65523	D	0.612068453635021	0.73938	6.048333	0.59676151836649	0.74706	6.182971	0.9999999998598	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	5.46	0.80021	5.665000	0.67722	5.919000	0.51137	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:0.0:1.0	13.490	0.60843	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	189.75	29	chr9	127707150	.	T	C	189.75	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-1.128;DP=201;ExcessHet=0;FS=49.857;MLEAC=2;MLEAF=0.333;MQ=60;MQRankSum=0;QD=3.11;ReadPosRankSum=1.49;SOR=5.279	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,13:61:99:0|1:127707149_T_C:196,0,1731:127707149	2	0	1	4
chr9	127925153	127925153	C	T	exonic	PIP5KL1	.	nonsynonymous SNV	PIP5KL1:NM_173492:exon4:c.G262A:p.E88K,PIP5KL1:NM_001135219:exon9:c.G871A:p.E291K	.	.	.	.	.	.	.	.	.	.	.	2318586	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.043	0.00619792367682	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1234986475	3.42e-06	3.42e-06	4.084e-06	2.75e-06	2.519e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	2.519e-05	0	0	3.597e-06	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.571	0.10447	T	0.718	0.05380	T	0.047	0.21998	B	0.017	0.18140	B	0.470601	0.12283	N	0.752780	1	0.08975	N	0.635	0.15989	N	1.59	0.28836	T	-0.27	0.14000	N	0.181	0.20528	-1.0135	0.25816	T	0.048	0.20592	T	10	0.07915956	0.12701	T	0.006198	0.16259	T	0.043	0.11576	0.466	0.53729	0.364926071151	0.36103	0.33954964255489817	0.33867	0.447885501735	0.44639	0.324399471283	0.14087	T	0.006224	0.05657	T	-0.340506	0.05353	T	-0.557762	0.16587	T	0.103842085350542	0.12774	T	0.865113	0.56350	D	0.10497373	0.24818	0.08688312	0.20157	0.10497373	0.24818	0.08688312	0.20157	-7.471	0.75963	T	.	.	0.070	0.04159	B	.;.	.;.	1.987530	0.25252	16.69	0.96211603383630429	0.29057	0.09061	0.14891	N	AEFDGBI	0.107416	0.21401	N	-0.667026083358548	0.16966	0.8690487	-0.58029642899333	0.20007	1.076008	0.999881131616689	0.44867	0.617157	0.39670	1	0.550933	0.16991	0	0.786243	0.99158	0	0.616125	0.45549	0	.	.	4.83	2.78	0.31702	1.916000	0.39617	0.588000	0.19789	0.549000	0.26987	0.130000	0.23345	0.001000	0.17328	0.697000	0.34049	0.1551:0.6939:0.1509:0.0	9.792	0.39880	287	0.88635	Phosphatidylinositol-4-phosphate 5-kinase, core|Phosphatidylinositol-4-phosphate 5-kinase, core|Phosphatidylinositol-4-phosphate 5-kinase, core;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	521.45	35	chr9	127925153	.	C	T	521.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.127;DP=267;ExcessHet=0;FS=2.003;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.69;ReadPosRankSum=-0.005;SOR=0.439	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1023	6	0	1	0
chr9	127925923	127925923	C	A	exonic	PIP5KL1	.	nonsynonymous SNV	PIP5KL1:NM_173492:exon3:c.G98T:p.S33I,PIP5KL1:NM_001135219:exon8:c.G707T:p.S236I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.0261313374316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.68238	D	0.006	0.72224	D	1.0	0.90584	D	0.987	0.77487	D	0.000224	0.47286	D	0.261745	0.999615	0.47849	D	1.735	0.44892	L	1.42	0.33189	T	-4.64	0.79316	D	0.261	0.33796	-1.0194	0.23910	T	0.131	0.44088	T	10	0.48922727	0.60892	T	0.026131	0.49060	D	0.247	0.55478	0.767	0.89452	0.531972677126	0.52846	0.5990099232146398	0.59831	1.01988730095	0.75077	0.434287160635	0.29796	T	0.068983	0.33596	T	-0.0932301	0.37542	T	-0.371695	0.36690	T	0.992513597011566	0.83012	D	0.868313	0.57032	D	0.4184813	0.61991	0.26889735	0.52764	0.4184813	0.61991	0.26889735	0.52763	-15.847	0.97523	D	.	.	0.201	0.42535	B	.;.	.;.	4.226788	0.63974	24.6	0.99467252440192788	0.66154	0.86694	0.46029	D	AEFBI	0.324434	0.42633	N	0.329997075348622	0.57693	3.937775	0.284089157332231	0.54611	3.625492	0.999972618291912	0.50053	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.616125	0.45549	0	.	.	5.31	3.36	0.37579	2.535000	0.45343	2.132000	0.30787	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.821:0.0:0.179	10.173	0.42098	287	0.88635	Phosphatidylinositol-4-phosphate 5-kinase, core|Phosphatidylinositol-4-phosphate 5-kinase, core|Phosphatidylinositol-4-phosphate 5-kinase, core;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr9	127925923	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1071	6	1	0	0
chr9	127929868	127929868	-	G	exonic	PIP5KL1	.	stopgain	PIP5KL1:NM_001135219:exon2:c.47dupC:p.E17*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	36.4	32	chr9	127929868	.	A	AG	36.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.07;ReadPosRankSum=-1.501;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1028	6	0	1	0
chr9	128091952	128091952	G	A	exonic	SLC25A25	.	nonsynonymous SNV	SLC25A25:NM_001006642:exon1:c.G82A:p.E28K,SLC25A25:NM_001265614:exon1:c.G82A:p.E28K	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	.	0.0073	0.00599042	0.0017	0.0199	0.0009	0	0	0	0.0011	0.0002	0.0017141	265	154602	rs115942384	0.0007	0.0007	0.0008	0.0006	0.0234	0.0006	0.0006	0.0221	0.0215	0.0234	0.0012	0.0003	2.519e-05	0	0.0016	1.799e-05	0.0018	0.0001	0.0060	0.0060	0.0059	0.0061	0.0209	0.0057	0.0055	0.0197	0.0193	0.0209	0	0.0022	0	0	0	0	5.88e-05	0.0043	0	0.126	0.27194	T	0.188	0.30143	T	0.016	0.17332	B	0.029	0.21540	B	.	.	.	.	1	0.81001	D	.	.	.	-1.31	0.79666	T	-0.5	0.15782	N	0.18	0.19459	-0.5845	0.65439	T	0.259	0.62923	T	8	0.005258858	0.00115	T	.	.	.	0.281	0.59861	.	.	0.134007934775	0.12933	.	.	.	.	.	.	.	.	.	.	-0.315995	0.07231	T	-0.210425	0.53654	T	0.0127592617000643	0.00216	T	0.663034	0.27207	T	.	.	.	.	.	.	.	.	-4.49	0.30915	T	.	.	0.101	0.17700	B	.;.	.;.	2.250856	0.28748	17.90	0.99854575767458043	0.93368	0.94464	0.61249	D	AEFBI	0.526562	0.54887	D	0.0841056772604696	0.45723	2.824031	0.259531296995083	0.53192	3.489514	0.999999999793984	0.74766	0.616025	0.39624	0	0.379588	0.06130	0	0.491513	0.07944	0	0.677038	0.66255	0	.	.	6.07	6.07	0.98675	4.233000	0.58451	7.605000	0.61698	-0.111000	0.15049	1.000000	0.71638	1.000000	0.68203	0.644000	0.32530	0.0:0.0:1.0:0.0	17.800	0.88494	231	0.90996	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	1357.83	37	chr9	128091952	.	G	A	1357.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.92;DP=340;ExcessHet=0;FS=2.051;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=1.23;SOR=0.531	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr9	128203516	128203516	C	A	exonic	DNM1	.	unknown	UNKNOWN	Epileptic encephalopathy, early infantile, 31, Autosomal dominant	13	1488	21	0	0	21	0.00700701	.	.	.	369776	Developmental_and_epileptic_encephalopathy,_31A|Inborn_genetic_diseases|not_specified|not_provided	MONDO:MONDO:0014598,MedGen:C4225357,OMIM:616346,Orphanet:2382|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.521	.	0.0026	0.0279553	0.0335	0.0038	0.0587	0.1655	0.0035	0.0104	0.0149	0.0402	0.0127489	1971	154602	rs61757224	0.0076	0.0078	0.0071	0.0081	0.1047	0.0075	0.0074	0.1017	0.1005	0.0009	0.0131	0.0004	0.1047	0.0011	0.0031	0.0038	0.0076	0.0273	0.0070	0.0071	0.0060	0.0081	0.0988	0.0067	0.0065	0.0917	0.0889	0.0011	0.0286	0.0054	0	0.0988	0.0007	0.0034	0.0037	0.0062	0.0271	0.019	0.51853	D	0.029	0.55341	D	0.012	0.16265	B	0.01	0.14941	B	0.010094	0.30071	N	0.315063	1	0.81001	D	2.68	0.78455	M	-4.26	0.97078	D	-1.64	0.39314	N	0.093	0.31478	-0.3636	0.73156	T	0.112	0.40052	T	10	0.0020967126	0.00030	T	.	.	.	0.521	0.79643	.	.	.	.	0.7578958498316064	0.75737	1.75258816871	0.91011	0.847831964493	0.89287	D	0.53455	0.83952	D	-0.276053	0.11091	T	-0.0725907	0.65442	T	0.0290570126467959	0.01845	T	0.933807	0.75196	D	0.27371824	0.50438	0.24311496	0.49748	0.28401318	0.51430	0.2125759	0.45731	-4.274	0.30797	T	0.5101791939494381	0.58403	0.262	0.49654	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.092953	0.41652	21.4	0.97068911465426433	0.32230	0.75356	0.36892	D	ALL	0.152075	0.27668	N	-0.224900301049422	0.32113	1.807713	-0.217760301003046	0.30899	1.743806	0.999999999999853	0.74766	0.455138	0.09556	0	0.606814	0.50340	0	0.504199	0.09095	0	0.56751	0.32155	0	.	.	4.78	1.87	0.24559	1.541000	0.35732	1.481000	0.26822	0.491000	0.22372	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.7444:0.0:0.2556	8.767	0.33868	359	0.84979	Dynamin, GTPase domain;.;.;.;Dynamin, GTPase domain;.;Dynamin, GTPase domain;.;Dynamin, GTPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005589	0.000000	0.002717	0.002941	0.000000	0.008621	0.003165	0.023077	0.07143	523.63	41	chr9	128203516	.	C	A	523.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.182;DP=208;ExcessHet=0;FS=2.755;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.106;SOR=0.637	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,996	6	0	1	0
chr9	128332174	128332174	G	A	exonic	COQ4	.	nonsynonymous SNV	COQ4:NM_016035:exon5:c.G424A:p.A142T	Coenzyme Q10 deficiency, primary, 7, Autosomal recessive	420	1061	38	3	0	44	0.0203139	.	.	.	370324	not_provided|Neonatal_encephalomyopathy-cardiomyopathy-respiratory_distress_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0014562,MedGen:C5568562,OMIM:616276,Orphanet:457185|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.163	.	0.0025	0.0091853	0.0172	0.0019	0.0035	0.0006	0.0017	0.0106	0.0076	0.0416	0.0060543	936	154602	rs34043652	0.0057	0.0057	0.0048	0.0066	0.0331	0.0056	0.0055	0.0321	0.0317	0.0012	0.0016	0.0021	5.274e-05	0.0004	0.0148	0.0044	0.0055	0.0331	0.0037	0.0037	0.0033	0.0042	0.0334	0.0035	0.0033	0.0292	0.0276	0.0008	0	0.0024	0.0035	0	0.0003	0.0136	0.0045	0.0033	0.0334	0.449	0.09022	T	0.511	0.10785	T	0.982	0.60036	D	0.767	0.56720	P	0.000670	0.42516	D	0.267657	0.999905	0.19694	N	2.26	0.64354	M	0.88	0.46028	T	-1.28	0.32185	N	0.233	0.26233	-0.8356	0.52937	T	0.143	0.46459	T	10	0.007909	0.00179	T	.	.	.	0.163	0.42028	.	.	0.589665606642	0.58642	0.4398756359911274	0.43904	0.611868390324	0.55801	0.373806595802	0.21377	T	0.165191	0.51094	T	-0.558499	0.00259	T	-0.550647	0.17265	T	0.0325917881327479	0.02404	T	0.909609	0.68017	D	0.05415084	0.10350	0.077319644	0.17210	0.050297037	0.09065	0.06649144	0.13626	-4.972	0.36534	T	0.20917695901469	0.27996	0.101	0.17700	B	.	.	3.856571	0.55900	23.7	0.99394376498206649	0.62474	0.66322	0.33038	D	AEFDBCI	0.410087	0.48110	N	0.502736449469989	0.67250	5.056811	0.524640981072112	0.69652	5.391109	0.999945172294767	0.47345	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.85	5.85	0.93663	4.850000	0.62587	6.780000	0.56581	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.855000	0.40485	0.1447:0.1546:0.7007:0.0	6.675	0.22281	329	0.86514	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013198	0.010526	0.009511	0.005848	0.000000	0.017241	0.009317	0.038168	0.07143	220.49	20	chr9	128332174	.	G	A	220.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=175;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.37;ReadPosRankSum=0;SOR=0.859	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1114	6	0	1	0
chr9	128343175	128343175	A	T	exonic	SLC27A4	.	stopgain	SLC27A4:NM_005094:exon2:c.A43T:p.K15X	Ichthyosis prematurity syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	0.13003	T	0.224	0.25591	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	-1.66	0.82715	D	1.78	0.00525	N	0.301	0.34012	-0.5402	0.67155	T	0.362	0.72377	T	7	0.25803554	0.43226	T	.	.	.	0.183	0.45592	0.493	0.58048	0.716849003213	0.71436	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	0.846908092498779	0.49901	D	0.330567	0.06924	T	.	.	.	.	.	.	.	.	-2.773	0.07937	T	.	.	0.119	0.24532	B	.	.	7.253193	0.96319	36	0.99186169098299726	0.54848	0.83563	0.42672	D	AEFDBHCI	0.677507	0.64218	D	0.00484117778718424	0.42074	2.52837	-0.062306616895576	0.36964	2.158	0.999941011172985	0.47345	0.706548	0.73137	0	0.708844	0.79440	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.52	-0.00523	0.13341	0.634000	0.24304	1.754000	0.28498	-0.083000	0.16234	0.998000	0.41325	0.999000	0.35428	0.354000	0.25750	0.4457:0.4267:0.0:0.1276	8.073	0.29865	329	0.86514	.	.	.	.	.	.	Likely benign	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr9	128343175	.	A	T	33.22	.	AC=2;AF=0.143;AN=14;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1131	6	1	0	0
chr9	128469298	128469298	G	A	exonic	ODF2	.	nonsynonymous SNV	ODF2:NM_001351581:exon4:c.G497A:p.R166H,ODF2:NM_153432:exon4:c.G497A:p.R166H,ODF2:NM_153436:exon4:c.G365A:p.R122H,ODF2:NM_153439:exon4:c.G440A:p.R147H,ODF2:NM_153440:exon4:c.G308A:p.R103H,ODF2:NM_001242352:exon5:c.G350A:p.R117H,ODF2:NM_001242353:exon5:c.G365A:p.R122H,ODF2:NM_001351577:exon5:c.G614A:p.R205H,ODF2:NM_001351578:exon5:c.G614A:p.R205H,ODF2:NM_001351579:exon5:c.G350A:p.R117H,ODF2:NM_001351583:exon5:c.G293A:p.R98H,ODF2:NM_001351584:exon5:c.G350A:p.R117H,ODF2:NM_001351586:exon5:c.G293A:p.R98H,ODF2:NM_153433:exon5:c.G365A:p.R122H,ODF2:NM_153435:exon5:c.G557A:p.R186H,ODF2:NM_153437:exon5:c.G308A:p.R103H,ODF2:NM_001351580:exon6:c.G350A:p.R117H,ODF2:NM_001351582:exon6:c.G482A:p.R161H,ODF2:NM_001351585:exon6:c.G350A:p.R117H,ODF2:NM_002540:exon7:c.G293A:p.R98H	.	416	1099	6	1	0	8	0.00362647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0109698103709	0.0038	0.00139776	0.0030	0.0008	0.0005	0	0.0008	0.0045	0.0022	0.0025	0.0031824	492	154602	rs35903554	0.0042	0.0042	0.0042	0.0042	0.0050	0.0041	0.0041	0.0049	0.0049	0.0008	0.0006	0.0001	2.519e-05	0.0005	0.0016	0.0050	0.0029	0.0029	0.0026	0.0026	0.0028	0.0025	0.0045	0.0024	0.0023	0.0041	0.0039	0.0008	0.0285	0.0008	0	0	0.0002	0	0.0045	0.0024	0.0039	0.132	0.33585	T	0.164	0.35840	T	0.012	0.16265	B	0.002	0.06944	B	0.073630	0.21334	N	0.560958	0.999996	0.20103	N	1.39	0.34934	L	-0.11	0.64445	T	-1.01	0.29525	N	0.095	0.15187	-1.0035	0.28903	T	0.108	0.39246	T	10	0.00464195	0.00097	T	0.01097	0.28104	T	0.115	0.32236	.	.	0.255777322467	0.25185	0.0669948432708928	0.06637	0.510821598874	0.49180	0.253140330315	0.04106	T	0.157611	0.50028	T	-0.457281	0.01022	T	-0.425204	0.30481	T	0.000158423257483252	0.00001	T	0.789921	0.45098	T	0.026983995	0.01826	0.03479626	0.02610	0.026983995	0.01826	0.03479626	0.02610	-3.668	0.20208	T	.	.	0.058	0.09143	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	0.541790	0.09104	5.887	0.93769430161967493	0.23720	0.17541	0.19881	N	AEFGBI	0.057380	0.10682	N	-1.08006619587143	0.07011	0.3244389	-1.06226980769931	0.08452	0.4156898	0.99852727317004	0.37129	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.97	-2.77	0.05529	-0.012000	0.12637	-0.425000	0.09259	-1.982000	0.00461	0.360000	0.25842	0.000000	0.08366	0.531000	0.29730	0.5852:0.1036:0.3112:0.0	9.47	0.38000	451	0.79296	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.006135	0.000000	0.07143	452.44	49	chr9	128469298	.	G	A	452.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.83;DP=226;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=-0.936;SOR=0.818	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1219	6	0	1	0
chr9	128634837	128634837	C	T	exonic	DYNC2I2	.	nonsynonymous SNV	DYNC2I2:NM_052844:exon7:c.G1066A:p.G356S	.	415	1082	24	1	0	26	0.0118721	.	.	.	458911	Short-rib_thoracic_dysplasia_11_with_or_without_polydactyly|DYNC2I2-related_disorder|not_provided	MONDO:MONDO:0014287,MedGen:C3810200,OMIM:615633,Orphanet:474,Orphanet:93271|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.183	0.111733181486	0.0028	0.00339457	0.0044	0.0005	0.0064	0	0.0006	0.0046	0.0050	0.0077	0.0036998	572	154602	rs17849504	0.0029	0.0030	0.0026	0.0033	0.0083	0.0029	0.0028	0.0078	0.0076	0.0004	0.0043	0.0083	5.039e-05	0.0015	0.0080	0.0025	0.0039	0.0083	0.0027	0.0027	0.0027	0.0026	0.0079	0.0024	0.0024	0.0059	0.0052	0.0005	0	0.0020	0.0101	0.0004	0.0019	0.0102	0.0037	0.0024	0.0079	0.164	0.23360	T	0.187	0.28764	T	0.402	0.34891	B	0.119	0.32162	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	1.65	0.27650	T	-2.12	0.48184	N	0.635	0.64818	-1.0853	0.06353	T	0.061	0.25635	T	10	0.014472216	0.00304	T	0.111733	0.78962	D	0.183	0.45592	.	.	0.350524144436	0.34660	0.663641422864043	0.66301	0.353134030552	0.37127	0.622149705887	0.56032	T	0.057986	0.30717	T	-0.169954	0.25242	T	-0.012058	0.69550	D	0.0169857053249468	0.00448	T	0.785321	0.42297	T	0.29473332	0.52428	0.22070257	0.46855	0.29473332	0.52428	0.22070257	0.46854	-6.276	0.48532	T	.	.	0.150	0.33203	B	.	.	3.101871	0.41810	21.4	0.99747808364856505	0.84002	0.95916	0.66708	D	AEFDGBCI	0.831345	0.74990	D	0.0751261407202568	0.45305	2.789209	0.149914993195619	0.47136	2.948535	1.0	0.98316	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.24	5.24	0.72863	5.642000	0.67561	7.528000	0.59870	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.137000	0.19835	0.0:1.0:0.0:0.0	17.824	0.88570	389	0.83303	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.000000	0.009537	0.002924	0.000000	0.000000	0.009146	0.026515	0.07143	1443.44	34	chr9	128634837	.	C	T	1443.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.559;DP=313;ExcessHet=0;FS=3.268;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=0.673;SOR=0.446	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1281	6	0	1	0
chr9	128720441	128720441	C	T	exonic	PKN3	.	nonsynonymous SNV	PKN3:NM_001317926:exon22:c.C2461T:p.R821C	.	413	1104	5	0	0	5	0.00225938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0088	0.00878594	0.0049	0.0237	0.0116	0.0143	0	0.0011	0.0044	0.0006	0.004573	707	154602	rs7874787	0.0022	0.0022	0.0023	0.0020	0.0215	0.0021	0.0021	0.0202	0.0197	0.0215	0.0097	0.0045	0.0143	3.804e-05	0.0023	0.0009	0.0045	0.0008	0.0078	0.0079	0.0078	0.0078	0.0228	0.0075	0.0073	0.0216	0.0212	0.0228	0	0.0058	0.0055	0.0099	0	0	0.0009	0.0090	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1134.45	36	chr9	128720441	.	C	T	1134.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.404;DP=280;ExcessHet=0;FS=0.793;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=0.76;SOR=0.74	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr9	128721389	128721389	A	G	exonic	ZDHHC12	.	nonsynonymous SNV	ZDHHC12:NM_001318015:exon5:c.T761C:p.V254A,ZDHHC12:NM_001318020:exon5:c.T574C:p.S192P,ZDHHC12:NM_001318023:exon5:c.T593C:p.V198A,ZDHHC12:NM_032799:exon5:c.T596C:p.V199A	.	407	1110	5	0	0	5	0.00224719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0083	0.00878594	0.0064	0.0272	0.0219	0.0188	0	0.0019	0.0093	0.0003	0.0036998	572	154602	rs78428039	0.0021	0.0021	0.0023	0.0019	0.0213	0.0020	0.0020	0.0200	0.0195	0.0213	0.0091	0.0045	0.0139	3.909e-05	0.0024	0.0009	0.0046	0.0007	0.0079	0.0079	0.0079	0.0078	0.0230	0.0075	0.0073	0.0218	0.0213	0.0230	0	0.0058	0.0055	0.0099	0	0	0.0009	0.0099	0.0004	1.0	0.00964	T	0.524	0.10317	T	0.0	0.02946	B	0.0	0.01387	B	0.002099	0.37271	N	0.257341	1	0.81001	D	.	.	.	1.99	0.21666	T	1.21	0.01092	N	0.023	0.00770	-0.9843	0.33998	T	0.006	0.01981	T	10	0.004037082	0.00078	T	.	.	.	0.028	0.06331	.	.	0.0954503805726	0.09146	0.5090375167872353	0.50825	0.213371676131	0.23852	0.463133275509	0.33740	T	0.002093	0.04698	T	-0.604467	0.00137	T	-0.623466	0.10915	T	0.00152901731071866	0.00015	T	0.326967	0.06756	T	0.042194765	0.06354	0.034689106	0.02580	0.042194765	0.06354	0.034689106	0.02579	-2.362	0.04906	T	.	.	0.074	0.04975	B	.;.	.;.	1.559569	0.19980	14.53	0.62980339162813026	0.07103	0.40521	0.26455	N	AEFGBCI	0.112235	0.22191	N	-0.871352598519527	0.11528	0.5567882	-0.682448835580353	0.17400	0.9250269	0.999999256660244	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.81	2.93	0.33092	1.855000	0.39018	3.874000	0.40203	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.526000	0.29613	0.2731:0.1559:0.5709:0.0	4.816	0.12733	0	0.99858	Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002022	0.000000	0.004087	0.000000	0.000000	0.000000	0.003106	0.000000	0.07143	704.63	33	chr9	128721389	.	A	G	704.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.636;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=1.37;SOR=0.826	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,103,1084	6	0	1	0
chr9	128804120	128804120	G	C	splicing	TBC1D13	NM_018201:exon9:c.918+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439285	0.91990	D	0.393226	0.91891	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.584561	0.95441	35	0.9957280974931918	0.72501	0.99430	0.95929	D	AEFGBI	.	.	.	1.23241248562877	0.99791	27.03869	1.09277677016336	0.99751	26.266	0.999999999992227	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.20857	0.04538	0	0.221052	0.04502	0	0.983693	0.90581	5.49	5.49	0.81022	9.724000	0.98010	11.840000	0.97786	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	18.369	0.90344	792	0.45996	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1341.83	34	chr9	128804120	.	G	C	1341.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.58;DP=289;ExcessHet=0;FS=0.752;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-1.5;SOR=0.855	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	6	0	1	0
chr9	128822602	128822605	AGTA	-	exonic	ENDOG	.	frameshift deletion	ENDOG:NM_004435:exon3:c.886_889del:p.K297Efs*6	.	428	1088	6	0	0	6	0.00274977	.	.	.	215391	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0024	0.00419329	0.0025	0.0006	0.0109	0.0047	0	0.0040	0	0.0005	0.0001537	4	26028	rs1353989257	0.0021	0.0021	0.0022	0.0021	0.0233	0.0021	0.0021	0.0201	0.0189	0.0010	0.0071	0.0046	0.0016	0	0.0233	0.0020	0.0027	0.0007	0.0022	0.0022	0.0021	0.0024	0.0086	0.0021	0.0020	0.0074	0.0070	0.0008	0	0.0086	0.0066	0.0014	0	0.0204	0.0019	0.0033	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021761	0.000000	0.016349	0.070588	0.050000	0.008772	0.009259	0.011450	0.07143	1953.79	37	chr9	128822601	.	CAGTA	C	1953.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.892;DP=293;ExcessHet=0;FS=7.303;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.76;ReadPosRankSum=1.51;SOR=0.995	GT:AD:DP:GQ:PL	0/1:59,51:110:99:1964,0,2267	6	0	1	0
chr9	128847458	128847482	GGGGCTCCAGCCTTCCTTCCCTGAA	-	exonic	KYAT1	.	frameshift deletion	KYAT1:NM_001287390:exon2:c.47_71del:p.L16Hfs*54,KYAT1:NM_001352994:exon2:c.47_71del:p.L16Hfs*54,KYAT1:NM_001352995:exon2:c.47_71del:p.L16Hfs*53,KYAT1:NM_001352996:exon2:c.47_71del:p.L16Hfs*53,KYAT1:NM_001352997:exon2:c.47_71del:p.L16Hfs*21,KYAT1:NM_001352998:exon2:c.47_71del:p.L16Hfs*21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	685.5	38	chr9	128847457	.	TGGGGCTCCAGCCTTCCTTCCCTGAA	T	685.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.175;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.04;ReadPosRankSum=0.127;SOR=0.922	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1165	6	0	1	0
chr9	128946673	128946673	G	A	exonic	DOLK	.	nonsynonymous SNV	DOLK:NM_014908:exon1:c.C631T:p.R211C	Congenital disorder of glycosylation, type Im, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	101544	not_provided|DK1-congenital_disorder_of_glycosylation|Cardiovascular_phenotype|not_specified	MedGen:C3661900|MONDO:MONDO:0012556,MedGen:C1835849,OMIM:610768,Orphanet:91131|MedGen:CN230736|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.591	0.0357950066277	0.0028	0.00139776	0.0018	0.0013	0.0017	0	0.0006	0.0024	0	0.0011	0.0019146	296	154602	rs145310298	0.0034	0.0034	0.0035	0.0033	0.0041	0.0033	0.0033	0.0040	0.0039	0.0005	0.0022	3.826e-05	0	0.0005	0.0016	0.0041	0.0036	0.0010	0.0023	0.0023	0.0027	0.0019	0.0036	0.0021	0.0020	0.0031	0.0030	0.0009	0	0.0036	0	0	0.0007	0.0068	0.0035	0.0043	0.0006	0.181	0.21884	T	0.148	0.32675	T	0.588	0.38987	P	0.103	0.30945	B	0.006107	0.32266	N	0.248173	1	0.81001	D	2.14	0.59869	M	-2.43	0.88689	D	0.49	0.02993	N	0.245	0.27673	-0.4172	0.71481	T	0.351	0.71454	T	10	0.015254825	0.00320	T	0.035795	0.56579	D	0.591	0.83691	.	.	0.853481155907	0.85206	0.6037860347003077	0.60309	0.507186606807	0.48905	0.581625282764	0.50314	T	0.173423	0.52229	T	-0.153905	0.27703	T	0.0072411	0.70805	D	0.0140418310002991	0.00272	T	0.970903	0.89563	D	0.066901065	0.14438	0.055882383	0.09886	0.066901065	0.14438	0.055882383	0.09885	-4.295	0.28107	T	.	.	0.201	0.42549	B	.	.	4.216870	0.63755	24.6	0.94934467679695023	0.25822	0.88013	0.47759	D	AEFGBCI	0.686747	0.64832	D	-0.0295646826244289	0.40520	2.407741	0.0919525540205277	0.44143	2.701793	0.99999993302508	0.74766	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.651492	0.60203	0	.	.	5.26	4.36	0.51643	3.346000	0.51907	6.196000	0.54830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1654:0.0:0.8346:0.0	9.095	0.35795	901	0.24189	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	5713.44	33	chr9	128946673	.	G	A	5713.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.62;DP=659;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.436;SOR=0.685	GT:AD:DP:GQ:PL	0/1:231,228:459:99:5724,0,5252	6	0	1	0
chr9	129085541	129085541	G	A	exonic	DOLPP1	.	nonsynonymous SNV	DOLPP1:NM_001135917:exon5:c.G386A:p.R129K,DOLPP1:NM_020438:exon5:c.G386A:p.R129K	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	0.0743553633491	0.0007	0.000599042	0.0002	0.0019	8.676e-05	0	0	0	0	0	0.0001488	23	154602	rs150999812	6.911e-05	6.909e-05	8.306e-05	5.502e-05	0.0026	5.781e-05	5.393e-05	0.0021	0.0020	0.0026	8.948e-05	0	0	0	0	8.993e-07	0.0001	1.16e-05	0.0004	0.0004	0.0003	0.0005	0.0013	0.0003	0.0003	0.0010	0.0009	0.0013	0	0.0001	0	0	0	0	1.47e-05	0.0014	0	0.458	0.08787	T	0.806	0.03993	T	0.659	0.40886	P	0.342	0.42471	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.33	0.33268	L	-0.88	0.74689	T	-0.7	0.19933	N	0.633	0.69913	-0.6512	0.62662	T	0.234	0.60124	T	10	0.036887825	0.02011	T	0.074355	0.72020	D	0.375	0.69358	.	.	0.658450046671	0.65559	0.7571738344946951	0.75665	1.59136320463	0.88531	0.905649900436	0.97042	D	0.411065	0.76562	T	-0.164074	0.26134	T	-0.0330847	0.68164	D	0.0632587929838585	0.07672	T	0.907009	0.67748	D	0.23722832	0.46584	0.2341905	0.48629	0.23722832	0.46584	0.2341905	0.48628	-5.812	0.53909	T	.	.	0.240	0.53595	B	.;.	.;.	3.918568	0.57191	23.8	0.99340690755014305	0.60170	0.99457	0.96268	D	AEFBI	0.918293	0.88714	D	0.338529305237908	0.58137	3.98427	0.447322895867337	0.64544	4.712	0.999999999997484	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	9.602000	0.97623	11.732000	0.95017	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.856	0.88677	871	0.31377	Phosphatidic acid phosphatase type 2/haloperoxidase|Phosphatidic acid phosphatase type 2/haloperoxidase|Dolichyldiphosphatase, PAP2 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1632.49	34	chr9	129085541	.	G	A	1632.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.31;DP=272;ExcessHet=0;FS=1.969;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.55;ReadPosRankSum=-0.128;SOR=1.04	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1345	6	0	1	0
chr9	129613547	129613547	C	T	exonic	C9orf50	.	nonsynonymous SNV	C9orf50:NM_199350:exon5:c.G931A:p.E311K	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00753306616956	.	0.000199681	4.123e-05	9.628e-05	0	0.0003	0	0	0	6.057e-05	3.88e-05	6	154602	rs547056212	1.984e-05	1.984e-05	2.042e-05	1.925e-05	0.0004	1.392e-05	1.203e-05	0.0002	0.0002	0	2.236e-05	3.826e-05	0.0004	0	0	6.295e-06	3.312e-05	4.638e-05	3.283e-05	3.281e-05	6.424e-05	0	0.0006	1.26e-05	7.97e-06	0.0002	8.391e-05	0	0	6.535e-05	0	0.0006	0	0	0	0	0.0002	0.035	0.43708	D	0.037	0.51737	D	0.887	0.48784	P	0.099	0.30579	B	0.166023	0.17516	N	0.416632	1	0.08975	N	0.55	0.14455	N	2.23	0.18083	T	-2.81	0.59389	D	0.189	0.20660	-1.0003	0.29831	T	0.020	0.08360	T	10	0.042327553	0.02971	T	0.007533	0.19979	T	0.021	0.04004	0.315	0.29096	0.0297737177859	0.01360	0.06972781522841202	0.06910	0.310570658703	0.33372	.	.	.	0.076515	0.35438	T	-0.43439	0.01396	T	-0.569599	0.15486	T	0.0889866468819518	0.11096	T	0.622538	0.23960	T	0.16322833	0.36451	0.14720137	0.34845	0.16322833	0.36450	0.14720137	0.34844	-2.682	0.07153	T	.	.	0.175	0.38281	B	.	.	2.700296	0.35267	19.85	0.99521127652298658	0.69222	0.04166	0.09660	N	AEFDGBHCI	0.036665	0.04922	N	-0.696763131808565	0.16114	0.8181252	-0.85413108945426	0.13189	0.6828153	0.999997699975531	0.74766	0.446893	0.09132	0	0.578056	0.33634	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	3.27	0.396	0.15532	1.168000	0.31468	1.977000	0.30015	0.587000	0.30956	0.001000	0.13787	0.045000	0.21693	0.001000	0.02609	0.0:0.627:0.0:0.373	5.510	0.16164	744	0.52588	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1444.49	35	chr9	129613547	.	C	T	1444.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.799;DP=323;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-0.241;SOR=0.723	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1453	6	0	1	0
chr9	129619764	129619764	T	C	exonic	C9orf50	.	nonsynonymous SNV	C9orf50:NM_199350:exon2:c.A575G:p.N192S	.	424	1067	29	2	0	33	0.0152284	.	.	.	2826464	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	.	0.0043	0.00239617	0.0031	0.0011	0.0041	0.0001	0	0.0041	0.0110	0.0020	0.0030595	473	154602	rs139758889	0.0036	0.0036	0.0037	0.0036	0.0106	0.0036	0.0035	0.0085	0.0077	0.0006	0.0042	0.0068	2.519e-05	0.0004	0.0106	0.0039	0.0043	0.0026	0.0031	0.0031	0.0034	0.0029	0.0060	0.0029	0.0028	0.0050	0.0047	0.0008	0	0.0060	0.0075	0	0.0003	0.0136	0.0044	0.0038	0.0025	0.921	0.02304	T	0.647	0.06812	T	0.01	0.15535	B	0.005	0.11217	B	0.391868	0.04482	N	1.419460	1	0.08975	N	-0.46	0.02758	N	2.61	0.13095	T	-1.03	0.27052	N	0.063	0.03502	-0.9702	0.37157	T	0.009	0.03096	T	10	0.0034188926	0.00060	T	.	.	.	0.019	0.03383	.	.	0.0138822411134	0.00435	0.011741665969622806	0.01134	0.529963951167	0.50551	.	.	.	9.3E-4	0.00486	T	-0.749097	0.00018	T	-0.844797	0.01029	T	0.000991300197597474	0.00010	T	0.505449	0.15971	T	0.030348785	0.02682	0.038332105	0.03678	0.030348785	0.02682	0.038332105	0.03678	-1.057	0.01064	T	.	.	0.079	0.07507	B	.	.	-0.024190	0.04119	0.976	0.59347015220903909	0.06203	0.01250	0.04399	N	AEFDBHCI	0.026021	0.01882	N	-1.58098593737585	0.01362	0.05936398	-1.65406289132508	0.01355	0.06118232	0.999999667143698	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	3.48	-6.22	0.01881	-1.405000	0.02598	-2.377000	0.03830	0.509000	0.23192	0.000000	0.06391	0.000000	0.08366	0.101000	0.18331	0.0:0.2666:0.1454:0.588	5.971	0.18590	607	0.67291	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.014099	0.005051	0.012228	0.002924	0.000000	0.025862	0.027439	0.018939	0.07143	1750.44	134	chr9	129619764	.	T	C	1750.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.009;DP=327;ExcessHet=0;FS=7.805;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.732;SOR=0.525	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1293	6	0	1	0
chr9	129874608	129874608	C	A	exonic	USP20	.	nonsynonymous SNV	USP20:NM_001008563:exon18:c.C1773A:p.H591Q,USP20:NM_001110303:exon18:c.C1773A:p.H591Q,USP20:NM_006676:exon18:c.C1773A:p.H591Q	.	430	1090	1	1	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0529044071909	7.9e-05	.	2.516e-05	0	0	0	0	4.559e-05	0	0	2.59e-05	4	154602	rs374930544	9.579e-06	9.577e-06	8.169e-06	1.1e-05	0.0003	5.56e-06	4.35e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	9.892e-06	0	1.159e-05	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	0.251	0.31212	B	0.327	0.41976	B	0.000000	0.84330	D	0.047712	0.999996	0.58761	D	2.215	0.62545	M	4.18	0.02743	T	-6.66	0.92302	D	0.821	0.81658	-1.0057	0.28247	T	0.011	0.04369	T	10	0.67643917	0.71019	D	0.052904	0.65257	D	0.221	0.51721	0.564	0.68499	0.280987212366	0.27714	0.6315407421700721	0.63088	0.561320963877	0.52637	0.738963723183	0.72820	T	0.161753	0.50614	T	-0.057772	0.43255	T	-0.257116	0.49112	T	0.810372948646545	0.47074	D	0.979902	0.93196	D	0.8036321	0.84139	0.80549216	0.88614	0.8036321	0.84140	0.80549216	0.88615	-10.59	0.77363	D	.	.	0.994	0.95110	P	.;.;.	.;.;.	0.833341	0.12048	8.603	0.97612760795837417	0.34915	0.45841	0.27627	N	AEFDBCI	0.306556	0.41367	N	-0.737353819914995	0.14979	0.7508752	-0.763768558968658	0.15385	0.8088512	0.999974849132825	0.50053	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.95	-3.07	0.05038	-1.675000	0.02049	-5.603000	0.01659	-0.834000	0.02848	0.000000	0.06391	0.000000	0.08366	0.687000	0.33748	0.0:0.3742:0.0:0.6258	13.131	0.58797	369	0.84396	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1762.44	34	chr9	129874608	.	C	A	1762.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.11;DP=317;ExcessHet=0;FS=0.715;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=0.176;SOR=0.562	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1120	6	0	1	0
chr9	130408889	130408889	C	T	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon84:c.C12835T:p.R4279W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs995537633	3.517e-05	2.736e-05	3.797e-05	3.226e-05	0.0003	2.65e-05	2.333e-05	0.0002	0.0001	0.0003	0.0002	0	0.0002	0	0.0002	1.738e-05	0.0002	1.312e-05	7.221e-05	7.217e-05	5.139e-05	9.397e-05	0.0002	3.968e-05	3.125e-05	0.0001	8.43e-05	0.0002	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.23884	.	.	.	.	.	.	.	0.085742354	0.14505	T	.	.	.	.	.	.	.	0.326345978581	0.32251	0.3579562137840729	0.35709	.	.	0.296239972115	0.09842	T	0.003623	0.03030	T	-0.568218	0.00227	T	-0.719832	0.04804	T	.	.	.	0.558444	0.19458	T	0.20130658	0.42136	0.16350466	0.37925	0.20130658	0.42136	0.16350466	0.37924	-7.441	0.57194	T	.	.	0.076	0.06024	B	.	.	2.231012	0.28483	17.81	0.73679324823822212	0.10416	0.19732	0.20774	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999998749251281	0.74766	0.183328	0.03972	0	0.068659	0.01829	0	0.199235	0.04519	0	0.057841	0.00900	0	0.649144	0.41742	5.3	4.32	0.50899	0.836000	0.27198	-0.106000	0.11884	-0.191000	0.09375	0.016000	0.19238	0.000000	0.08366	0.066000	0.16387	0.1848:0.8152:0.0:0.0	11.961	0.52297	374	0.84073	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	724.27	34	chr9	130408889	.	C	T	724.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.567;DP=239;ExcessHet=0;FS=0.962;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-0.564;SOR=0.523	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1331	5	0	1	1
chr9	130433379	130433379	G	A	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon98:c.G14926A:p.G4976S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	.	.	0.00878594	0.0029	0.0443	0	0	.	0	0	0	0.0005757	89	154602	rs113041177	0.0008	0.0008	0.0009	0.0007	0.0295	0.0008	0.0007	0.0278	0.0271	0.0295	0.0021	0	0	0	0.0017	6.26e-05	0.0024	9.619e-05	0.0078	0.0078	0.0082	0.0073	0.0269	0.0074	0.0073	0.0256	0.0251	0.0269	0	0.0029	0	0	0	0.0034	8.821e-05	0.0061	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.00717	-0.8278	0.53442	T	0.186	0.53511	T	6	0.002153635	0.00031	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.22134895655357056	0.22049	.	.	.	.	.	2.6E-4	0.00060	T	-0.662762	0.00060	T	-0.704516	0.05582	T	0.00404215957425928	0.00043	T	0.563244	0.19836	T	0.059518743	0.12107	0.09689803	0.23042	0.059518743	0.12107	0.09689803	0.23041	-2.57	0.06278	T	.	.	0.061	0.01109	B	.	.	0.191477	0.05775	2.218	0.92567638573492106	0.22021	0.10069	0.15675	N	ALL	0.052312	0.09325	N	-1.08785136262138	0.06866	0.3173051	-1.12619359170849	0.07202	0.3494766	0.999999992660392	0.74766	0.789315	0.99827	0	0.616487	0.53143	0	0.768056	0.98339	0	0.554799	0.18163	0	.	.	4.54	-2.81	0.05459	0.061000	0.14242	-0.214000	0.10826	-0.352000	0.05559	0.209000	0.24412	0.004000	0.18990	0.022000	0.11911	0.4869:0.1496:0.3635:0.0	5.468	0.15947	358	0.85037	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	470.27	24	chr9	130433379	.	G	A	470.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.018;DP=192;ExcessHet=0;FS=2.879;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=0.031;SOR=0.352	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1080	5	0	1	1
chr9	131117828	131117828	T	C	exonic	AIF1L	.	nonsynonymous SNV	AIF1L:NM_001185096:exon5:c.T275C:p.I92T,AIF1L:NM_031426:exon5:c.T275C:p.I92T,AIF1L:NM_001185095:exon6:c.T353C:p.I118T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.829	0.086331759809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.83351	D	0.962	0.73220	D	0.744	0.74454	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.04	0.86592	M	0.78	0.50976	T	-4.79	0.80595	D	0.967	0.98065	-0.0997	0.80104	T	0.377	0.73438	T	10	0.9224597	0.91598	D	0.086332	0.74714	D	0.829	0.94579	.	.	0.805461841073	0.80364	0.7238422849693593	0.72328	1.03534464927	0.75567	0.843075454235	0.88563	D	0.31304	0.76002	T	0.321721	0.84592	D	0.224353	0.84391	D	0.996974255464703	0.90488	D	0.961204	0.90184	D	0.8458817	0.87033	0.71896714	0.83409	0.8458817	0.87034	0.71896714	0.83410	-10.81	0.84118	D	.	.	0.963	0.90501	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.555044	0.71721	25.7	0.99846229060438119	0.92576	0.93631	0.58748	D	AEFGBCI	0.940799	0.94325	D	0.878168267895768	0.90649	10.50113	0.839486138280923	0.92388	11.39726	0.999999999999895	0.74766	0.67177	0.52595	0	0.563428	0.19063	0	0.702456	0.68683	0	0.654926	0.60358	0	.	.	5.74	5.74	0.90070	7.991000	0.87898	7.825000	0.69893	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	15.223	0.73020	358	0.85037	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	33.93	34	chr9	131117828	.	T	C	33.93	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.199;DP=358;ExcessHet=0;FS=142.412;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.19;ReadPosRankSum=1.83;SOR=7.167	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1228	6	0	1	0
chr9	131290023	131290023	G	A	exonic	PLPP7	.	nonsynonymous SNV	PLPP7:NM_032728:exon1:c.G26A:p.R9H	.	430	1076	15	1	0	17	0.00783771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0906438553466	0.0025	0.00139776	0.0030	0.0009	0.0029	0.0001	0.0002	0.0040	0.0066	0.0025	0.0027619	427	154602	rs148406586	0.0032	0.0031	0.0032	0.0032	0.0055	0.0031	0.0031	0.0039	0.0034	0.0008	0.0030	0.0054	0	0.0006	0.0055	0.0034	0.0036	0.0032	0.0025	0.0025	0.0028	0.0023	0.0037	0.0023	0.0023	0.0032	0.0031	0.0008	0	0.0037	0.0069	0	0.0003	0.0034	0.0036	0.0047	0.0027	0.0	0.91255	D	0.064	0.44905	T	0.995	0.67487	D	0.719	0.54822	P	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	.	.	.	1.55	0.53943	T	-1.07	0.43334	N	0.57	0.67218	-0.6790	0.61419	T	0.216	0.57771	T	10	0.008685917	0.00197	T	0.090644	0.75558	D	0.142	0.37995	.	.	0.243187853663	0.23924	0.4759166090050502	0.47510	1.3449225568	0.83958	0.681076288223	0.64423	T	0.036995	0.24313	T	-0.273799	0.11338	T	-0.164565	0.57939	T	0.0267855057481218	0.01514	T	0.945705	0.79334	D	0.40508756	0.61083	0.2773503	0.53687	0.40508756	0.61084	0.2773503	0.53686	-6.118	0.47256	T	.	.	0.450	0.66012	A	.;.	.;.	5.327316	0.89404	30	0.99902820301859363	0.97426	0.79990	0.39750	D	AEFDGBCI	0.746029	0.68852	D	0.350452695997914	0.58764	4.050679	0.304255024011975	0.55787	3.741761	0.99999999991123	0.74766	0.608746	0.35421	0	0.588066	0.40923	0	0.584781	0.30282	0	0.605231	0.38476	0	.	.	5.38	4.47	0.53770	7.253000	0.77742	9.523000	0.80936	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.0:0.0:0.8511:0.1489	14.374	0.66429	371	0.84287	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005040	0.005051	0.005435	0.000000	0.000000	0.008621	0.009146	0.000000	0.07143	545.83	24	chr9	131290023	.	G	A	545.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.384;DP=153;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.19;ReadPosRankSum=-0.181;SOR=0.582	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,899	6	0	1	0
chr9	131446557	131446557	C	T	exonic	PRRC2B	.	nonsynonymous SNV	PRRC2B:NM_001384818:exon7:c.C770T:p.P257L,PRRC2B:NM_001384821:exon7:c.C770T:p.P257L,PRRC2B:NM_001384822:exon7:c.C770T:p.P257L,PRRC2B:NM_001384823:exon7:c.C770T:p.P257L,PRRC2B:NM_013318:exon7:c.C770T:p.P257L	.	425	1094	3	0	0	3	0.00136924	.	.	.	2224974	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.241	0.00726867715323	0.0002	.	0.0004	0	0	0	0	0.0004	0.0011	0.0015	0.0003622	56	154602	rs369974538	0.0002	0.0002	0.0002	0.0003	0.0016	0.0002	0.0002	0.0014	0.0013	8.961e-05	0	0.0052	5.039e-05	1.873e-05	0	4.317e-05	0.0004	0.0016	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0004	0.0003	0	0	0	0.0055	0	0	0	4.41e-05	0.0005	0.0010	0.013	0.53900	D	0.01	0.65728	D	1.0	0.90584	D	0.944	0.68059	D	0.144186	0.18186	U	0.387710	1	0.81001	D	2.125	0.59049	M	4.0	0.03239	T	-4.14	0.75220	D	0.626	0.64052	-1.2056	0.00112	T	0.035	0.14857	T	10	0.017169446	0.00365	T	0.007269	0.19280	T	0.241	0.54641	.	.	0.151262610727	0.14761	0.607157583296925	0.60647	0.595305017666	0.54808	0.632656335831	0.57522	T	0.163513	0.50860	T	-0.258235	0.13108	T	-0.173792	0.57095	T	0.127951431385674	0.15191	T	0.965303	0.88539	D	0.2658792	0.49658	0.16375676	0.37971	0.2658792	0.49657	0.16375676	0.37971	-4.393	0.29598	T	.	.	0.181	0.48293	B	.;.;.	.;.;.	4.630017	0.73600	26.0	0.99925076136190349	0.99042	0.99339	0.94716	D	AEFDGBI	0.593750	0.58895	D	0.715833929628471	0.80669	7.346106	0.717194890295445	0.83686	8.086922	0.999999999992887	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.24	5.24	0.72863	5.391000	0.66015	6.016000	0.52721	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.354	0.90290	588	0.69043	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2931.44	34	chr9	131446557	.	C	T	2931.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.08;DP=425;ExcessHet=0;FS=1.599;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-0.425;SOR=0.811	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1283	6	0	1	0
chr9	132264633	132264633	A	G	exonic	SETX	.	nonsynonymous SNV	SETX:NM_001351527:exon26:c.T7640C:p.I2547T,SETX:NM_015046:exon26:c.T7640C:p.I2547T,SETX:NM_001351528:exon27:c.T7727C:p.I2576T	Amyotrophic lateral sclerosis 4, juvenile, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 1, Autosomal recessive	0	1502	17	3	0	23	0.00759828	.	.	.	165502	Amyotrophic_lateral_sclerosis_type_4|Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2|not_provided|not_specified|Amyotrophic_lateral_sclerosis|Hereditary_spastic_paraplegia	MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433,Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002,Orphanet:64753|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.112	0.0633152070572	0.0054	0.00259585	0.0034	0.0006	0.0055	0	0.0005	0.0048	0.0055	0.0011	0.0036804	569	154602	rs151117904	0.0052	0.0052	0.0052	0.0051	0.0107	0.0051	0.0050	0.0086	0.0078	0.0012	0.0069	0.0007	0	0.0003	0.0107	0.0060	0.0054	0.0012	0.0043	0.0043	0.0044	0.0042	0.0122	0.0040	0.0039	0.0107	0.0102	0.0015	0	0.0122	0.0006	0	0.0004	0.0034	0.0055	0.0095	0.0006	0.315	0.14595	T	0.475	0.12072	T	0.0	0.02946	B	0.0	0.01387	B	0.000502	0.00624	N	3.286410	1	0.08975	N	0	0.06538	N	-2.72	0.90622	D	0.42	0.03352	N	0.044	0.01658	-0.5751	0.65811	T	0.318	0.68735	T	10	0.0033735633	0.00059	T	0.063315	0.68928	D	0.112	0.31546	.	.	0.425028116352	0.42120	0.12267033688604907	0.12193	0.093049406823	0.10513	0.266960442066	0.05747	T	0.092795	0.39078	T	-0.533684	0.00365	T	-0.533686	0.18921	T	0.000574663953003263	0.00005	T	0.322168	0.06550	T	0.016643604	0.00212	0.03200239	0.01869	0.021115314	0.00697	0.032754432	0.02061	-2.87	0.08847	T	.	.	0.120	0.24833	B	.;.	.;.	-0.108979	0.03587	0.700	0.38995283768389621	0.02664	0.01355	0.04643	N	AEFGBI	0.021710	0.00998	N	-1.43950795165835	0.02300	0.1014283	-1.44411367920124	0.02824	0.1306009	0.999370126307587	0.39355	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.94	-3.37	0.04591	0.238000	0.17782	0.985000	0.23152	-0.786000	0.03287	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.455:0.2372:0.3079:0.0	6.013	0.18811	958	0.09170	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014602	0.005051	0.017663	0.035088	0.000000	0.017241	0.006098	0.000000	0.07143	927.44	95	chr9	132264633	.	A	G	927.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.747;DP=294;ExcessHet=0;FS=1.681;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=-1.455;SOR=0.961	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr9	132328524	132328526	TCA	-	exonic	SETX	.	nonframeshift deletion	SETX:NM_001351527:exon10:c.3072_3074del:p.D1024del,SETX:NM_001351528:exon10:c.3072_3074del:p.D1024del,SETX:NM_015046:exon10:c.3072_3074del:p.D1024del	Amyotrophic lateral sclerosis 4, juvenile, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 1, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	441295	Amyotrophic_lateral_sclerosis_type_4|Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2|SETX-related_disorder|not_specified|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433,Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002,Orphanet:64753|MedGen:CN239403|MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0004	0.00119808	0.0008	0.0004	0	0.0003	0	4.497e-05	0.0011	0.0052	0.0002689	7	26028	rs573705270	0.0004	0.0004	0.0002	0.0006	0.0055	0.0004	0.0003	0.0051	0.0049	0.0004	4.472e-05	0	0.0001	1.878e-05	0.0003	3.328e-05	0.0004	0.0055	0.0002	0.0002	0.0001	0.0003	0.0046	0.0001	0.0001	0.0031	0.0026	9.624e-05	0	6.541e-05	0	0.0002	0	0	4.411e-05	0	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1877.4	38	chr9	132328523	.	TTCA	T	1877.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.089;DP=367;ExcessHet=0;FS=6.758;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-2.113;SOR=0.712	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	6	0	1	0
chr9	132342716	132342716	A	C	exonic	SETX	.	nonsynonymous SNV	SETX:NM_001351527:exon5:c.T472G:p.L158V,SETX:NM_001351528:exon5:c.T472G:p.L158V,SETX:NM_015046:exon5:c.T472G:p.L158V	Amyotrophic lateral sclerosis 4, juvenile, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 1, Autosomal recessive	0	1510	12	0	0	12	0.00395778	.	.	.	316922	not_specified|Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2|Amyotrophic_lateral_sclerosis_type_4|not_provided|SETX-related_disorder|Inborn_genetic_diseases|Hereditary_spastic_paraplegia	MedGen:CN169374|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002,Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433,Orphanet:357043|MedGen:C3661900|MedGen:CN239403|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.436	0.0834254667316	0.0040	0.00159744	0.0037	0.0005	0.0016	0	0.0057	0.0048	0.0044	0.0039	0.0035122	543	154602	rs145438764	0.0049	0.0049	0.0048	0.0050	0.0073	0.0048	0.0047	0.0055	0.0054	0.0007	0.0015	0.0016	0	0.0046	0.0073	0.0055	0.0038	0.0041	0.0035	0.0035	0.0033	0.0037	0.0054	0.0032	0.0031	0.0050	0.0048	0.0009	0	0.0008	0.0017	0	0.0070	0.0068	0.0054	0.0047	0.0039	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.994	0.82059	D	0.000016	0.62929	D	0.000000	0.955192	0.26343	N	1.1	0.28011	L	-1.75	0.83495	D	-1.17	0.29933	N	0.672	0.67995	-0.3144	0.74580	T	0.447	0.78258	T	10	0.019678175	0.00442	T	0.083425	0.74113	D	0.436	0.74093	.	.	0.731782196658	0.72939	0.5147643254081122	0.51399	0.434735674297	0.43601	0.707861721516	0.68283	T	0.248009	0.61775	T	-0.236844	0.15754	T	-0.110652	0.62560	T	0.0240957226691437	0.01157	T	0.806319	0.45525	T	0.33789864	0.56111	0.2739793	0.53322	0.33789864	0.56111	0.2739793	0.53321	-4.191	0.26621	T	0.7157691124839489	0.79643	0.283	0.51566	B	.	.	3.053818	0.40982	21.3	0.99828922786251617	0.91112	0.86125	0.45347	D	AEFDBI	0.164312	0.29069	N	0.175915006962457	0.50044	3.198333	0.121805812255643	0.45667	2.825761	0.933647200815611	0.27138	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.6	-0.0263	0.13257	1.752000	0.37977	1.816000	0.29002	0.745000	0.86679	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.4976:0.0:0.5024:0.0	10.761	0.45467	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	482.83	18	chr9	132342716	.	A	C	482.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.071;DP=180;ExcessHet=0;FS=1.237;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=2.02;SOR=0.504	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1158	6	0	1	0
chr9	133129302	133129302	C	A	exonic	RALGDS	.	nonsynonymous SNV	RALGDS:NM_001271775:exon1:c.G17T:p.G6V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	.	0.00199681	0.0008	0.0116	0	0	0	0.0002	0	0	0.0006145	95	154602	rs114920471	0.0003	0.0003	0.0003	0.0003	0.0097	0.0003	0.0003	0.0089	0.0085	0.0097	0.0003	0.0020	0	0	0.0003	1.805e-05	0.0005	3.544e-05	0.0024	0.0024	0.0024	0.0024	0.0081	0.0022	0.0021	0.0074	0.0071	0.0081	0	0.0008	0.0020	0	0	0	4.41e-05	0.0019	0	0.018	0.50676	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	0.999999	0.18612	N	.	.	.	1.51	0.30937	T	-0.47	0.15178	N	0.165	0.17416	-1.0295	0.20616	T	0.038	0.16290	T	8	0.0033037066	0.00057	T	.	.	.	0.013	0.01715	.	.	0.281381271821	0.27740	.	.	.	.	0.424880504608	0.28508	T	.	.	.	-0.67772	0.00049	T	-0.739452	0.03914	T	0.0051601270155883	0.00056	T	0.468753	0.13831	T	.	.	.	.	.	.	.	.	-3.993	0.23699	T	.	.	0.117	0.23814	B	.	.	0.174721	0.05632	2.083	0.84121809130895286	0.15109	0.04254	0.09783	N	AEFDGBCI	0.056131	0.10352	N	-1.35551651569299	0.03068	0.1364826	-1.49820612273541	0.02359	0.1083788	0.999999970862871	0.74766	0.372202	0.05800	0	0.546412	0.12157	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.43	-4.9	0.02866	-1.635000	0.02121	-0.501000	0.08802	-0.960000	0.01985	0.009000	0.18154	0.003000	0.18671	0.019000	0.11356	0.4473:0.236:0.0:0.3167	3.276	0.06492	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1874.49	34	chr9	133129302	.	C	A	1874.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.877;DP=341;ExcessHet=0;FS=1.293;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.787;SOR=0.826	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1178	6	0	1	0
chr9	133256248	133256248	G	A	exonic	ABO	.	unknown	UNKNOWN	.	421	1083	18	0	0	18	0.00824176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.000599042	0.0012	0.0008	0.0008	0	0	0.0015	0.0047	0.0013	0.0010026	155	154602	rs200932155	0.0009	0.0009	0.0007	0.0010	0.0163	0.0008	0.0008	0.0136	0.0126	0.0008	0.0009	0.0067	2.519e-05	0	0.0163	0.0006	0.0017	0.0020	0.0008	0.0008	0.0008	0.0008	0.0021	0.0007	0.0007	0.0011	0.0009	0.0002	0	0.0010	0.0069	0	0	0.0136	0.0008	0.0043	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.000000	0.006793	0.029240	0.000000	0.034483	0.003049	0.007576	0.07143	1234.49	36	chr9	133256248	.	G	A	1234.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.442;DP=339;ExcessHet=0;FS=0.646;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.82;ReadPosRankSum=-1.313;SOR=0.814	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1072	6	0	1	0
chr9	133475503	133475503	C	T	exonic	SLC2A6	.	nonsynonymous SNV	SLC2A6:NM_001145099:exon5:c.G671A:p.R224Q,SLC2A6:NM_017585:exon5:c.G671A:p.R224Q	.	420	1096	6	0	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.0365264616018	0.0037	0.000798722	0.0026	0.0010	0.0025	0	0.0009	0.0041	0.0025	6.306e-05	0.0028913	447	154602	rs147854160	0.0057	0.0057	0.0058	0.0057	0.0070	0.0056	0.0056	0.0069	0.0068	0.0009	0.0035	0.0011	0	0.0012	0.0027	0.0070	0.0050	9.284e-05	0.0034	0.0034	0.0037	0.0031	0.0070	0.0032	0.0031	0.0059	0.0055	0.0009	0.0011	0.0070	0.0006	0	0.0014	0	0.0051	0.0028	0.0002	1.0	0.00964	T	0.855	0.03457	T	0.017	0.18474	B	0.003	0.08700	B	0.041935	0.23896	N	0.448034	0.995879	0.23177	N	-0.265	0.03777	N	-0.84	0.74265	T	0.33	0.04091	N	0.11	0.09631	-1.0183	0.24269	T	0.092	0.35174	T	10	0.0064229667	0.00145	T	0.036526	0.57047	D	0.101	0.28911	.	.	0.68332888052	0.68063	0.2502778925899523	0.24941	0.250448072217	0.27614	0.354210078716	0.18540	T	0.053096	0.29347	T	-0.561168	0.00250	T	-0.573728	0.15109	T	0.00377087047983331	0.00040	T	.	.	.	0.028032992	0.02081	0.050975088	0.08110	0.028032992	0.02080	0.050975088	0.08110	-4.293	0.28079	T	.	.	0.073	0.07985	B	.;.	.;.	4.404619	0.68085	25.2	0.92312362107149293	0.21705	0.18793	0.20405	N	AEFDGBI	0.080924	0.16368	N	-0.8216105616927	0.12758	0.6239815	-0.700281658095712	0.16953	0.8992606	0.999958418846714	0.48110	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.22	0.644	0.16948	1.180000	0.31614	0.519000	0.19148	0.599000	0.40250	0.617000	0.27888	0.038000	0.21505	0.885000	0.42453	0.0:0.3239:0.0:0.6761	6.988	0.23917	775	0.48401	.;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	681.83	28	chr9	133475503	.	C	T	681.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.56;DP=208;ExcessHet=0;FS=1.202;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=2.12;SOR=1.044	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1236	6	0	1	0
chr9	134701202	134701202	A	C	exonic	COL5A1	.	nonsynonymous SNV	COL5A1:NM_000093:exon4:c.A523C:p.K175Q,COL5A1:NM_001278074:exon4:c.A523C:p.K175Q	Ehlers-Danlos syndrome, classic type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1935671	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.122	0.00725986070966	.	.	8.383e-06	0	8.741e-05	0	0	0	0	0	6.5e-06	1	154602	rs781080614	1.368e-06	1.368e-06	2.723e-06	0	2.237e-05	2.3e-07	9e-08	.	.	0	2.237e-05	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.09155	T	0.552	0.09522	T	0.37	0.34076	B	0.185	0.36047	B	0.000018	0.62929	U	0.069156	0.973487	0.39028	D	1.47	0.36993	L	4.42	0.02177	T	-1.26	0.31778	N	0.317	0.37717	-0.8497	0.51989	T	0.010	0.03811	T	10	0.28996295	0.46578	T	0.00726	0.19253	T	0.122	0.33800	0.594	0.72371	0.523906363308	0.52036	0.2921281076370494	0.29125	0.657173800572	0.58683	0.384732842445	0.22926	T	0.135332	0.46709	T	-0.305771	0.08126	T	-0.59413	0.13309	T	0.670764744281769	0.39372	D	0.927907	0.73631	D	0.22711709	0.45407	0.1188835	0.28697	0.22711709	0.45407	0.1188835	0.28696	-9.81	0.72766	D	.	.	0.168	0.37063	B	.;.	.;.	3.532458	0.49572	22.8	0.92673759451814997	0.22157	0.94594	0.61676	D	AEFGBI	0.580984	0.58118	D	0.11875829160235	0.47338	2.960918	0.227082751108879	0.51356	3.318793	0.999999854364743	0.74766	0.67177	0.52595	0	0.59043	0.45803	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	4.92	4.92	0.64147	5.141000	0.64655	9.020000	0.78569	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.765000	0.36330	1.0:0.0:0.0:0.0	14.861	0.70014	940	0.13648	Laminin G domain|Laminin G domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1371.44	33	chr9	134701202	.	A	C	1371.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.234;DP=312;ExcessHet=0;FS=1.503;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-1.18;SOR=0.534	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr9	135714582	135714582	C	T	exonic	KCNT1	.	nonsynonymous SNV	KCNT1:NM_020822:exon2:c.C116T:p.P39L	Epilepsy, nocturnal frontal lobe, 5, Autosomal dominant;Epileptic encephalopathy, early infantile, 14, Autosomal dominant	10	1507	5	0	0	5	0.00165618	.	.	.	134797	KCNT1-related_disorder|not_provided|Developmental_and_epileptic_encephalopathy,_14|Autosomal_dominant_nocturnal_frontal_lobe_epilepsy_5|not_specified|Inborn_genetic_diseases	.|MedGen:C3661900|MONDO:MONDO:0013989,MedGen:C3554195,OMIM:614959,Orphanet:293181|MONDO:MONDO:0014002,MedGen:C3554306,OMIM:615005,Orphanet:98784|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.029	.	0.0038	0.00159744	0.0098	0.0019	0.0039	0	0.0147	0.0151	0.0038	0.0019	0.0031565	488	154602	rs201051863	0.0057	0.0053	0.0057	0.0057	0.0064	0.0056	0.0055	0.0063	0.0062	0.0009	0.0013	0.0083	0	0.0043	0.0024	0.0064	0.0054	0.0013	0.0039	0.0039	0.0040	0.0037	0.0062	0.0036	0.0035	0.0057	0.0055	0.0010	0.0219	0.0020	0.0061	0	0.0031	0	0.0062	0.0058	0.0025	0.087	0.32453	T	0.012	0.63918	D	.	.	.	.	.	.	0.013155	0.01356	U	9.327170	1	0.18198	N	.	.	.	1.97	0.22067	T	-1.3	0.32590	N	0.151	0.18103	-1.0356	0.18668	T	0.018	0.07329	T	10	0.0033433735	0.00058	T	.	.	.	0.029	0.06676	.	.	0.0666544352282	0.05500	0.16352326738834783	0.16272	0.643941016411	0.57915	0.690119028091	0.65723	T	.	.	.	-0.70979	0.00032	T	-0.789172	0.02187	T	0.00612083954984012	0.00068	T	0.580842	0.21027	T	.	.	.	.	.	.	.	.	-4.059	0.24683	T	.	.	0.103	0.18247	B	.;.	.;.	1.572115	0.20126	14.60	0.96184331579768212	0.28969	0.00172	0.01016	N	AEFDBHCI	0.022165	0.01074	N	-1.19390510425387	0.05092	0.231309	-1.23118443552341	0.05416	0.25799	0.988664159746435	0.31589	0.59774	0.34471	0	0.59043	0.45803	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	2.92	-0.473	0.11508	-0.169000	0.09900	0.091000	0.14516	0.493000	0.22426	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.2188:0.3689:0.0:0.4123	2.578	0.04519	675	0.60470	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001529	0.005435	0.001366	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	599.27	24	chr9	135714582	.	C	T	599.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.505;DP=180;ExcessHet=0;FS=1.298;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=1.03;SOR=0.385	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,921	5	0	1	1
chr9	135955409	135955409	G	A	exonic	UBAC1	.	nonsynonymous SNV	UBAC1:NM_016172:exon2:c.C145T:p.H49Y	.	432	1071	19	0	0	19	0.00879223	.	.	.	711861	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.096	.	0.0056	0.00798722	0.0092	0.0011	0.0045	0	0.0163	0.0107	0.0128	0.0149	0.0082535	1276	154602	rs142001879	0.0081	0.0080	0.0078	0.0083	0.0119	0.0079	0.0079	0.0112	0.0110	0.0010	0.0047	0.0007	0	0.0162	0.0065	0.0081	0.0080	0.0119	0.0066	0.0066	0.0060	0.0072	0.0120	0.0062	0.0061	0.0095	0.0087	0.0013	0	0.0048	0.0006	0	0.0143	0.0102	0.0095	0.0038	0.0120	0.817	0.02981	T	0.129	0.34837	T	0.608	0.39540	P	0.09	0.29851	B	0.000001	0.84330	D	0.096458	0.997213	0.43714	D	1.32	0.33002	L	1.92	0.23082	T	-0.37	0.13226	N	0.323	0.36359	-1.0860	0.06227	T	0.024	0.10013	T	10	0.005925685	0.00133	T	.	.	.	0.096	0.27654	.	.	0.082315109003	0.07666	0.31150531645933593	0.31063	0.37171088779	0.38671	0.630370259285	0.57197	T	0.028764	0.20762	T	-0.44439	0.01219	T	-0.400081	0.33374	T	0.0397201283000625	0.03640	T	0.90061	0.65471	D	0.06290287	0.13187	0.062878385	0.12372	0.06290287	0.13186	0.062878385	0.12371	-5.037	0.37239	T	.	.	0.084	0.09723	B	.	.	2.494431	0.32184	18.97	0.94042082308111552	0.24164	0.90612	0.51933	D	AEFBCI	0.552495	0.56413	D	0.108473930027154	0.46859	2.91982	0.23342110045025	0.51710	3.351346	0.999998556547796	0.74766	0.736574	0.97449	0	0.743671	0.97443	0	0.732669	0.93749	0	0.727631	0.95156	0	.	.	5.28	3.33	0.37245	5.757000	0.68422	5.805000	0.49965	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.863000	0.40966	0.0789:0.0:0.7798:0.1413	9.838	0.40153	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.000000	0.005435	0.005848	0.000000	0.008621	0.009146	0.022727	0.08333	190.27	26	chr9	135955409	.	G	A	190.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.001;DP=161;ExcessHet=0;FS=1.617;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.32;ReadPosRankSum=1.56;SOR=0.34	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,900	5	0	1	1
chr9	136253682	136253682	A	G	exonic	CCDC187	.	nonsynonymous SNV	CCDC187:NM_001378188:exon26:c.T6146C:p.I2049T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13332164	0.25374	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385761	0.09460	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.515	0.65270	A	.	.	1.326513	0.17311	13.09	0.79679062525083366	0.12851	0.08849	0.14716	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999775454667053	0.42865	0.056701	0.00814	0	0.060609	0.00678	0	0.074216	0.02223	0	0.079188	0.02158	0	0.0794579	0.18365	4.57	2.0	0.25495	0.019000	0.13337	1.259000	0.25219	0.754000	0.88378	0.000000	0.06391	0.000000	0.08366	0.192000	0.21661	0.6443:0.1816:0.0:0.1742	5.474	0.15980	778	0.48011	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	39.75	1	chr9	136253682	.	A	G	39.75	.	AC=2;AF=0.333;AN=6;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=60;QD=19.88;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	2	1	0	4
chr9	136276277	136276277	C	A	exonic	CCDC187	.	nonsynonymous SNV	CCDC187:NM_001378188:exon12:c.G3142T:p.A1048S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12977237	0.24695	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.408959	0.10549	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31758	B	.	.	1.668087	0.21268	15.13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200000	0.17055	0.428000	0.18294	0.587000	0.30956	0.002000	0.15269	0.801000	0.26950	0.010000	0.09038	.	.	.	778	0.48011	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	33.18	.	chr9	136276277	.	C	A	33.18	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.967;DP=9;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:32:40,0,32	4	0	1	2
chr9	136290009	136290009	C	T	exonic	CCDC187	.	stopgain	CCDC187:NM_001291516:exon7:c.G1878A:p.W626X,CCDC187:NM_001378188:exon7:c.G2172A:p.W724X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs930342382	6.899e-05	3.34e-05	8.23e-05	5.604e-05	0.0008	4.297e-05	3.529e-05	6.278e-05	5.134e-05	0	0	0	0	0	0.0008	0.0001	0	0	3.286e-05	3.283e-05	2.57e-05	4.036e-05	7.352e-05	1.261e-05	7.98e-06	2.847e-05	1.859e-05	0	0	0	0	0	0	0	7.352e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.13341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	8.482813	0.97621	37	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758000	0.26113	4.211000	0.42532	0.549000	0.26987	0.013000	0.18845	1.000000	0.68203	0.360000	0.25886	.	.	.	784	0.47045	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	712.27	23	chr9	136290009	.	C	T	712.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.011;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=1.38;SOR=0.664	GT:AD:DP:GQ:PL	0/1:21,33:54:99:722,0,410	5	0	1	1
chr9	136378999	136378999	G	A	exonic	SNAPC4	.	nonsynonymous SNV	SNAPC4:NM_003086:exon21:c.C2828T:p.P943L	.	379	1142	1	0	0	1	0.000437637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00341928887386	0.0002	0.000399361	0.0007	0.0003	0	0.0006	0	4.195e-05	0	0.0039	0.0003946	61	154602	rs377614654	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	2.99e-05	0.0001	0	7.601e-05	0	0.0002	8.111e-06	9.987e-05	0.0032	0.0002	0.0002	0.0001	0.0002	0.0029	0.0001	9.693e-05	0.0018	0.0014	7.213e-05	0	0.0001	0	0.0004	0	0.0034	2.94e-05	0.0005	0.0029	0.268	0.16144	T	0.177	0.29740	T	0.0	0.02946	B	0.0	0.01387	B	0.001216	0.00754	N	5.533370	1	0.08975	N	0.205	0.09354	N	1.83	0.24841	T	-0.87	0.23590	N	0.044	0.01658	-1.0092	0.27167	T	0.040	0.17020	T	10	0.004597515	0.00096	T	0.003419	0.07694	T	0.029	0.06676	.	.	0.0846915920261	0.08053	0.1790998910353127	0.17828	.	.	0.398734509945	0.24893	T	0.004269	0.03680	T	-0.625416	0.00102	T	-0.674194	0.07343	T	0.00904816653222226	0.00113	T	0.442956	0.12306	T	0.025136795	0.01417	0.029085439	0.01208	0.025136795	0.01417	0.029085439	0.01208	-3.852	0.21584	T	.	.	0.064	0.01577	B	.	.	0.475563	0.08450	5.209	0.53045929565370653	0.04864	0.10539	0.16018	N	AEFBI	0.045532	0.07457	N	-1.74240594355224	0.00702	0.03030722	-1.75628283070608	0.00910	0.04069743	0.988846585312981	0.31646	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.39	-0.671	0.10809	0.286000	0.18660	0.638000	0.20293	-0.753000	0.03565	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1964:0.0:0.8036:0.0	10.654	0.44856	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001012	0.005051	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	292.63	16	chr9	136378999	.	G	A	292.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.71;DP=158;ExcessHet=0;FS=9.167;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=-0.094;SOR=1.02	GT:AD:DP:GQ:PL	0/0:30,0:30:81:0,81,1215	6	0	1	0
chr9	136383295	136383295	G	A	exonic	SNAPC4	.	nonsynonymous SNV	SNAPC4:NM_003086:exon15:c.C1874T:p.T625M	.	403	1117	2	0	0	2	0.000894454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	7.7e-05	0.00539137	0.0025	0	0.0002	0	0	1.716e-05	0.0013	0.0171	0.0019922	308	154602	rs377155459	0.0009	0.0009	0.0005	0.0013	0.0145	0.0009	0.0009	0.0138	0.0135	0	4.479e-05	0	2.52e-05	0	0.0010	1.439e-05	0.0012	0.0145	0.0005	0.0005	0.0002	0.0007	0.0137	0.0004	0.0003	0.0110	0.0101	4.81e-05	0	0	0	0.0004	0	0	0	0	0.0137	0.245	0.17410	T	0.257	0.23231	T	0.022	0.18677	B	0.005	0.11217	B	0.012963	0.01351	N	2.855190	1	0.08975	N	0.69	0.16971	N	1.92	0.23082	T	-0.05	0.07736	N	0.084	0.06059	-1.0521	0.13818	T	0.031	0.13504	T	10	0.0032057464	0.00054	T	.	.	.	0.006	0.00375	.	.	0.0920862733494	0.08535	0.16532376128925305	0.16452	.	.	0.31380045414	0.12481	T	9.69E-4	0.00509	T	-0.671481	0.00054	T	-0.724338	0.04589	T	0.0344286289594964	0.02711	T	0.40306	0.10319	T	0.013030342	0.00048	0.01928769	0.00083	0.013030342	0.00047	0.01928769	0.00083	-5.758	0.44207	T	.	.	0.096	0.15341	B	.	.	-1.457024	0.00322	0.005	0.79313554604540826	0.12685	0.01520	0.05015	N	AEFGBCI	0.017010	0.00418	N	-1.74902547374673	0.00682	0.02943924	-1.87122154081287	0.00557	0.02472472	0.999963562242788	0.48965	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.37	-8.74	0.00725	-2.296000	0.01223	-6.064000	0.01508	-1.003000	0.01794	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4426:0.2453:0.1204:0.1918	1.586	0.02484	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001514	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003817	0.07143	368.63	33	chr9	136383295	.	G	A	368.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.875;DP=217;ExcessHet=0;FS=6.044;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.37;ReadPosRankSum=0.435;SOR=0.63	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1158	6	0	1	0
chr9	136799725	136799725	A	T	exonic	CCDC183	.	nonsynonymous SNV	CCDC183:NM_001039374:exon3:c.A205T:p.T69S	.	426	1076	19	1	0	21	0.00966406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00765807881367	0.0022	0.000399361	0.0025	0.0005	0.0020	0	0.0007	0.0033	0.0089	0.0027	0.0022833	353	154602	rs199913585	0.0023	0.0023	0.0022	0.0024	0.0305	0.0022	0.0022	0.0268	0.0254	0.0008	0.0020	0.0178	0	0.0003	0.0305	0.0019	0.0038	0.0031	0.0017	0.0017	0.0019	0.0015	0.0031	0.0016	0.0015	0.0019	0.0015	0.0004	0	0.0019	0.0202	0	0.0004	0.0306	0.0017	0.0038	0.0031	0.373	0.11442	T	0.039	0.51112	D	0.047	0.21998	B	0.022	0.19653	B	0.938737	0.07581	U	1.047410	0.999996	0.08975	N	1.935	0.51832	L	2.72	0.11947	T	-0.84	0.22944	N	0.202	0.22357	-0.9336	0.43605	T	0.024	0.10013	T	10	0.0049142838	0.00105	T	0.007658	0.20325	T	0.038	0.09825	0.191	0.10171	0.104622674875	0.10061	0.10181276940102582	0.10112	0.207345201098	0.23191	0.343333005905	0.16936	T	0.008954	0.08187	T	-0.642098	0.00081	T	-0.700032	0.05824	T	0.01447804924367	0.00294	T	0.534647	0.17878	T	0.11584996	0.27332	0.07161225	0.15356	0.11584996	0.27332	0.07161225	0.15355	-3.254	0.13151	T	.	.	0.143	0.31482	B	.	.	2.203206	0.28101	17.69	0.91985349370051916	0.21318	0.05868	0.11815	N	AEFDBHCI	0.054065	0.09798	N	-1.12903859983484	0.06132	0.2814402	-1.20507104331509	0.05828	0.2787952	0.999999927819922	0.74766	0.443343	0.08805	1	0.552344	0.17405	0	0.666236	0.60216	0	0.620976	0.48614	0	.	.	5.28	-4.68	0.03070	0.530000	0.22742	0.564000	0.19539	0.658000	0.54486	0.688000	0.28513	0.048000	0.21764	0.456000	0.28029	0.3242:0.0:0.401:0.2747	4.424	0.10921	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.024772	0.055556	0.024523	0.049708	0.000000	0.025862	0.003086	0.003817	0.07143	398.63	33	chr9	136799725	.	A	T	398.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.56;DP=209;ExcessHet=0;FS=1.377;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=2.1;SOR=0.791	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1069	6	0	1	0
chr9	136808232	136808232	C	A	exonic	RABL6	.	nonsynonymous SNV	RABL6:NM_001173988:exon1:c.C36A:p.D12E,RABL6:NM_001173989:exon1:c.C36A:p.D12E,RABL6:NM_024718:exon1:c.C36A:p.D12E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.148360344513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.256e-06	4.788e-06	1.409e-06	7.142e-06	8.812e-05	1.53e-06	1.01e-06	2.335e-05	1.247e-05	0	0	0	8.812e-05	0	0	2.758e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.21634	T	0.843	0.10209	T	0.0	0.02946	B	0.001	0.04355	B	0.008253	0.30938	N	0.256329	0.988566	0.24396	N	-0.145	0.04423	N	0.06	0.61798	T	0.12	0.06253	N	0.072	0.09490	-0.9943	0.31485	T	0.088	0.33885	T	10	0.066854	0.09229	T	0.14836	0.83029	D	0.076	0.22200	0.178	0.08503	0.215239754934	0.21150	0.23748830598180962	0.23663	0.823064698688	0.67274	0.804454922676	0.82643	D	0.012969	0.11300	T	-0.220812	0.17882	T	-0.554957	0.16853	T	0.515287816524506	0.33192	D	0.680832	0.28956	T	0.050317492	0.09072	0.03448465	0.02525	0.050317492	0.09071	0.03448465	0.02524	-1.659	0.02124	T	.	.	0.058	0.03964	B	.;.;.;.	.;.;.;.	1.700567	0.21659	15.30	0.94973180616778696	0.25904	0.32417	0.24580	N	AEFDGBHCI	0.158826	0.28453	N	-0.817636634612202	0.12860	0.6296188	-0.622846175994905	0.18907	1.012101	0.999999999796498	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	3.91	1.93	0.24985	1.589000	0.36253	5.753000	0.49639	-0.323000	0.05837	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.6021:0.3979:0.0	11.959	0.52285	970	0.06235	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	27	chr9	136808232	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	6	1	0	0
chr9	136862464	136862465	CT	-	exonic	EDF1	.	frameshift deletion	EDF1:NM_001281297:exon5:c.417_418del:p.R139Sfs*72	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	0	1.376e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	252.45	16	chr9	136862463	.	GCT	G	252.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.175;DP=176;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.78;ReadPosRankSum=0.052;SOR=1.002	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1060	6	0	1	0
chr9	137114652	137114652	G	A	exonic	DPP7	.	nonsynonymous SNV	DPP7:NM_013379:exon1:c.C62T:p.A21V	.	439	1074	4	0	5	9	0.00185874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	.	0.000998403	0.0050	0	0	0	0	0	0	0.0137	9.06e-05	14	154602	rs551973637	6.542e-05	7.457e-05	5.224e-05	7.95e-05	0.0010	5.351e-05	4.957e-05	0.0008	0.0007	0	0	0	0	0	0	2.205e-05	2.002e-05	0.0010	7.23e-05	7.22e-05	3.857e-05	0.0001	0.0014	3.972e-05	3.128e-05	0.0007	0.0005	2.407e-05	0	0	0	0	0	0	2.943e-05	0.0005	0.0014	0.175	0.22400	T	0.368	0.16570	T	0.105	0.25993	B	0.005	0.11217	B	0.585632	0.05561	N	1.241380	1	0.08975	N	0	0.06538	N	2.46	0.14907	T	-0.49	0.15578	N	0.042	0.01498	-0.9727	0.36627	T	0.021	0.08639	T	10	0.004212588	0.00084	T	.	.	.	0.019	0.03383	0.438	0.49157	0.246773566709	0.24272	0.46234529585456335	0.46152	0.074145565323	0.08315	0.711295545101	0.68781	T	0.001278	0.00758	T	-0.590185	0.00167	T	-0.618618	0.11294	T	0.0326320162687998	0.02410	T	0.473453	0.14099	T	0.026593002	0.01736	0.035472967	0.02807	0.026593002	0.01736	0.035472967	0.02806	-5.265	0.39596	T	.	.	0.146	0.32324	B	.;.	.;.	1.376773	0.17874	13.42	0.98626832356056382	0.43852	0.91284	0.53224	D	AEFDGBHCI	0.075432	0.15147	N	-1.10172859229677	0.06613	0.304897	-1.13169878954619	0.07101	0.3441598	0.999999999999995	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.619478	0.44681	0	0.604282	0.37693	0	.	.	2.54	1.63	0.22882	1.163000	0.31408	1.524000	0.27113	0.524000	0.24156	0.004000	0.16614	0.006000	0.19429	0.002000	0.04165	0.1723:0.0:0.8277:0.0	5.022	0.13709	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	163.84	7	chr9	137114652	.	G	A	163.84	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.353;DP=80;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-1.016;SOR=1.445	GT:AD:DP:GQ:PL	0/1:6,6:12:99:174,0,146	6	0	1	0
chr9	137199456	137199456	G	A	exonic	TPRN	.	nonsynonymous SNV	TPRN:NM_001128228:exon1:c.C1256T:p.P419L	Deafness, autosomal recessive 79, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	655956	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.085	.	0.0015	0.00239617	0.0049	0.0008	0.0015	0	0.0004	0.0043	0.0043	0.0125	0.0024903	385	154602	rs149753507	0.0024	0.0024	0.0022	0.0026	0.0097	0.0023	0.0023	0.0092	0.0090	0.0002	0.0007	7.708e-05	5.1e-05	0.0003	0.0028	0.0023	0.0014	0.0097	0.0016	0.0016	0.0016	0.0017	0.0072	0.0015	0.0014	0.0054	0.0047	0.0006	0	0.0009	0	0	9.407e-05	0.0034	0.0026	0.0005	0.0072	0.003	0.68238	D	0.027	0.66756	D	0.959	0.55135	D	0.301	0.41090	B	0.131938	0.18605	N	0.451388	0.991112	0.24080	N	1.75	0.45442	L	.	.	.	-2.17	0.49018	N	0.229	0.25745	-0.9848	0.33879	T	0.078	0.31133	T	9	0.0038635433	0.00073	T	.	.	.	0.085	0.24743	.	.	0.134241683229	0.13084	0.3390038826880828	0.33813	.	.	0.406837284565	0.26019	T	0.013847	0.11897	T	-0.385213	0.02887	T	-0.319427	0.42637	T	0.0101801590738123	0.00138	T	0.679332	0.30283	T	0.047417782	0.08101	0.09815122	0.23389	0.06648775	0.14309	0.08869811	0.20696	-4.193	0.26650	T	0.5639274063526069	0.63149	0.103	0.18372	B	.;.	.;.	3.246163	0.44328	21.9	0.99679859853542863	0.79174	0.11340	0.16569	N	AEFDGBHCI	0.080201	0.16210	N	-0.185639922118141	0.33731	1.917103	-0.323299599580389	0.27347	1.516871	0.999997072495709	0.74766	0.766844	0.99359	0	0.685571	0.66316	0	0.851219	0.99655	0	0.604282	0.37693	0	.	.	3.47	2.49	0.29274	1.018000	0.29604	8.154000	0.76719	0.586000	0.30580	0.001000	0.13787	1.000000	0.68203	0.107000	0.18608	0.0:0.0:0.757:0.243	7.942	0.29127	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003033	0.000000	0.002732	0.005882	0.000000	0.000000	0.003067	0.003788	0.07143	1320.49	38	chr9	137199456	.	G	A	1320.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.59;DP=273;ExcessHet=0;FS=5.063;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=0.312;SOR=0.865	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1296	6	0	1	0
chr9	137215195	137215195	C	T	exonic	NDOR1	.	nonsynonymous SNV	NDOR1:NM_001144027:exon8:c.C1064T:p.S355L,NDOR1:NM_001144026:exon9:c.C1166T:p.S389L,NDOR1:NM_001144028:exon9:c.C1166T:p.S389L,NDOR1:NM_014434:exon9:c.C1166T:p.S389L	.	404	1093	24	1	0	26	0.0117541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.633	.	0.0026	0.00119808	0.0042	0.0005	0.0020	0	0.0202	0.0043	0.0090	0.0045	0.0036416	563	154602	rs150718423	0.0033	0.0033	0.0032	0.0034	0.0050	0.0032	0.0032	0.0044	0.0042	0.0004	0.0023	0.0008	0	0.0140	0.0050	0.0030	0.0034	0.0047	0.0034	0.0034	0.0027	0.0041	0.0040	0.0031	0.0030	0.0036	0.0034	0.0004	0	0.0027	0.0003	0.0002	0.0146	0.0034	0.0040	0.0047	0.0039	0.001	0.78490	D	0.002	0.79402	D	0.999	0.90584	D	0.947	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.15	0.97575	H	-0.99	0.75911	T	-5.67	0.87143	D	0.818	0.81360	0.528	0.90939	D	0.652	0.87866	D	10	0.028880298	0.01017	T	.	.	.	0.633	0.85924	.	.	0.900595898261	0.89960	0.8560677092019127	0.85569	0.686208846331	0.60320	0.737328290939	0.72579	T	0.205969	0.56518	T	-0.00834766	0.50497	T	0.215911	0.83969	D	0.13665932178373	0.15984	T	0.979469	0.92930	D	0.7062033	0.78398	0.6236406	0.78067	0.7062033	0.78399	0.6236406	0.78068	-11.428	0.82678	D	.	.	0.683	0.72283	P	.;.;.;.	.;.;.;.	4.687627	0.75076	26.3	0.99846681344304111	0.92663	0.90458	0.51651	D	AEFGBI	0.363951	0.45267	N	0.422679150873749	0.62672	4.48692	0.231735266002781	0.51615	3.342666	0.999999999999459	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.57	4.57	0.55860	5.387000	0.65993	7.431000	0.58793	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.034000	0.13613	0.0:1.0:0.0:0.0	16.266	0.82404	988	0.01987	.;.;.;Sulfite reductase [NADPH] flavoprotein alpha-component-like, FAD-binding|Flavoprotein pyridine nucleotide cytochrome reductase|FAD-binding domain, ferredoxin reductase-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006073	0.000000	0.002717	0.005882	0.000000	0.000000	0.012346	0.007634	0.07143	865.63	40	chr9	137215195	.	C	T	865.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.287;DP=279;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-0.67;SOR=0.779	GT:AD:DP:GQ:PL	0/1:48,38:86:99:876,0,1131	6	0	1	0
chr9	137265959	137265959	G	A	exonic	NELFB	.	nonsynonymous SNV	NELFB:NM_015456:exon7:c.G1123A:p.G375S	.	.	.	.	.	.	.	.	.	.	.	2371454	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.056	0.00462114288179	.	.	7.597e-05	9.899e-05	0	0	0	3.095e-05	0	0.0004	5.82e-05	9	154602	rs756900212	6.78e-05	6.909e-05	5.997e-05	7.571e-05	0.0004	5.676e-05	5.266e-05	0.0002	0.0001	5.976e-05	0	0	5.039e-05	0	0.0004	6.477e-05	0	0.0002	7.876e-05	8.529e-05	7.706e-05	8.054e-05	0.0001	4.492e-05	3.509e-05	6.266e-05	4.288e-05	0.0001	0	0	0	0	0	0	8.82e-05	0	0	.	.	.	0.727	0.05221	T	.	.	.	.	.	.	0.000003	0.62929	N	0.137035	0.592792	0.32471	D	.	.	.	.	.	.	.	.	.	0.219	0.24510	-1.0256	0.21886	T	0.036	0.15553	T	9	0.04514751	0.03552	T	0.004621	0.11440	T	0.056	0.15993	.	.	0.102598925029	0.09809	0.06222013643074011	0.06162	0.394222162191	0.40582	0.432641029358	0.29569	T	.	.	.	-0.432924	0.01424	T	-0.555094	0.16841	T	0.0135035014850431	0.00247	T	0.843416	0.52040	T	.	.	.	.	.	.	.	.	-2.563	0.06227	T	.	.	0.074	0.05060	B	.;.	.;.	1.706083	0.21731	15.32	0.47430777738361368	0.03877	0.70120	0.34460	D	AEFGBHCI	0.161286	0.28733	N	-0.882360549487969	0.11262	0.5425562	-0.730418219258298	0.16205	0.8561377	0.999948349609537	0.47345	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.02	1.96	0.25203	2.999000	0.49161	2.447000	0.32796	-0.161000	0.11593	1.000000	0.71638	0.988000	0.31051	0.463000	0.28185	0.4539:0.0:0.5461:0.0	6.910	0.23509	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	670.46	38	chr9	137265959	.	G	A	670.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.403;DP=241;ExcessHet=0;FS=2.08;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=1.65;SOR=0.436	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1320	6	0	1	0
chr9	137306981	137306981	G	A	exonic	EXD3	.	nonsynonymous SNV	EXD3:NM_017820:exon22:c.C2600T:p.P867L	.	420	1072	30	0	0	30	0.0137994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0038	0.00778754	0.0068	0.0006	0.0033	0.0001	0.0021	0.0059	0.0094	0.0271	0.0058343	902	154602	rs118011827	0.0049	0.0049	0.0044	0.0055	0.0177	0.0048	0.0048	0.0170	0.0167	0.0006	0.0036	0.0045	5.061e-05	0.0017	0.0132	0.0044	0.0056	0.0177	0.0037	0.0037	0.0038	0.0036	0.0180	0.0034	0.0033	0.0150	0.0138	0.0011	0	0.0041	0.0063	0	0.0015	0	0.0046	0.0057	0.0180	0.289	0.15047	T	0.089	0.40426	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	0.63	0.53088	T	-0.84	0.22944	N	0.064	0.03613	-1.0552	0.12987	T	0.084	0.32814	T	9	0.002650559	0.00041	T	.	.	.	0.035	0.08770	.	.	0.0401082797425	0.02173	0.13143889159918148	0.13068	0.0537485315339	0.05938	0.293423980474	0.09424	T	0.004025	0.03433	T	-0.625299	0.00102	T	-0.656038	0.08536	T	0.000714748461818774	0.00006	T	0.49875	0.15541	T	0.025869284	0.01574	0.032090463	0.01891	0.025869284	0.01573	0.032090463	0.01891	-4.971	0.36523	T	.	.	0.080	0.07745	B	.	.	-0.270247	0.02750	0.368	0.72097194850595092	0.09855	0.00862	0.03425	N	AEFBI	0.048889	0.08390	N	-1.73501616686814	0.00725	0.03129348	-1.84216125642774	0.00633	0.02814956	0.999996336862171	0.74766	0.608966	0.35542	0	0.588066	0.40923	0	0.769059	0.98459	0	0.505526	0.08623	0	.	.	3.79	-6.17	0.01912	-1.162000	0.03252	-3.500000	0.02739	-0.922000	0.02193	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.122:0.226:0.3855:0.2666	2.096	0.03445	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011581	0.015152	0.010870	0.014620	0.000000	0.000000	0.006098	0.022901	0.1429	1434.24	33	chr9	137306981	.	G	A	1434.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.119;DP=262;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.364;SOR=0.648	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1097	5	0	2	0
chr9	137348192	137348192	G	A	exonic	EXD3	.	nonsynonymous SNV	EXD3:NM_017820:exon17:c.C1877T:p.P626L	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	0.0002	0.0117812	0.0064	0.0005	0.0036	0.0576	0.0005	0.0004	0.0086	0.0105	0.0054398	841	154602	rs118030525	0.0023	0.0023	0.0020	0.0026	0.0483	0.0022	0.0022	0.0465	0.0458	0.0002	0.0016	0.0016	0.0483	0.0004	0.0002	0.0001	0.0051	0.0098	0.0027	0.0028	0.0026	0.0029	0.0529	0.0025	0.0024	0.0478	0.0457	0.0003	0	0.0016	0.0017	0.0529	0.0008	0.0034	0.0001	0.0071	0.0139	0.022	0.48642	D	0.028	0.54934	D	0.659	0.40886	P	0.056	0.26147	B	0.040699	0.24030	U	0.401991	0.505006	0.31772	D	0.695	0.17993	N	0.5	0.55608	T	-2.87	0.60348	D	0.128	0.12198	-1.0277	0.21200	T	0.019	0.07753	T	9	0.0029752553	0.00048	T	.	.	.	0.041	0.10877	.	.	0.219573609325	0.21563	0.4280074004437523	0.42717	0.0932765465965	0.10540	0.569874644279	0.48660	T	0.020554	0.16160	T	-0.536498	0.00352	T	-0.502439	0.22094	T	0.0203153856621811	0.00731	T	0.684832	0.29327	T	0.06852753	0.14937	0.06439761	0.12899	0.06852753	0.14937	0.06439761	0.12898	-8.866	0.66830	D	.	.	0.135	0.29283	B	.	.	1.392352	0.18050	13.52	0.72193858639621933	0.09888	0.05994	0.11957	N	AEFDGI	0.053896	0.09753	N	-0.780281603464539	0.13824	0.6838937	-0.876299116354849	0.12656	0.6523275	0.107140373839307	0.16547	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.491896	0.07777	0	.	.	2.98	2.06	0.25932	2.552000	0.45490	1.549000	0.27280	0.492000	0.22399	0.938000	0.32564	0.892000	0.27844	0.002000	0.04165	0.0:0.0:0.772:0.2279	8.766	0.33859	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002535	0.000000	0.000000	0.002959	0.000000	0.000000	0.006211	0.003846	0.07143	1486.49	34	chr9	137348192	.	G	A	1486.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.03;DP=305;ExcessHet=0;FS=6.578;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-0.07;SOR=1.329	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	6	0	1	0
chr9	137431290	137431291	AG	-	exonic	NOXA1	.	frameshift deletion	NOXA1:NM_001256068:exon6:c.585_586del:p.E196Dfs*6,NOXA1:NM_001256067:exon8:c.753_754del:p.E252Dfs*6,NOXA1:NM_006647:exon8:c.753_754del:p.E252Dfs*6	.	415	1101	6	0	0	6	0.00271739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0005	0	0.0002	0	0	0.0003	0	0.0028	0.0004269	66	154602	rs374881837	0.0003	0.0003	0.0002	0.0004	0.0040	0.0003	0.0003	0.0027	0.0023	2.987e-05	0.0001	0	0	3.857e-05	0.0040	0.0002	0.0006	0.0025	0.0002	0.0002	0.0002	0.0002	0.0017	0.0001	0.0001	0.0008	0.0006	2.405e-05	0	0.0001	0	0	0	0.0034	0.0002	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004032	0.005051	0.006793	0.000000	0.000000	0.008621	0.000000	0.003788	0.07143	570.79	26	chr9	137431289	.	CAG	C	570.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.167;DP=180;ExcessHet=0;FS=1.515;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.39;ReadPosRankSum=0.83;SOR=0.412	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1075	6	0	1	0
chr9	137457794	137457794	C	T	exonic	NSMF	.	nonsynonymous SNV	NSMF:NM_001130969:exon3:c.G241A:p.G81S,NSMF:NM_001130970:exon3:c.G241A:p.G81S,NSMF:NM_001130971:exon3:c.G241A:p.G81S,NSMF:NM_001178064:exon3:c.G241A:p.G81S,NSMF:NM_015537:exon3:c.G241A:p.G81S	Hypogonadotropic hypogonadism 9 with or without anosmia	1	1517	4	0	0	4	0.00131666	.	.	.	415184	not_provided|NSMF-related_disorder|not_specified|Hypogonadotropic_hypogonadism_9_with_or_without_anosmia	MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0013911,MedGen:C3553842,OMIM:614838,Orphanet:478	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.014	0.0777455654442	.	0.000199681	0.0002	0	0	0	0	0.0002	0	0.0004	5.17e-05	8	154602	rs531757042	0.0001	0.0001	0.0001	0.0001	0.0014	9.408e-05	8.87e-05	0.0007	0.0005	6.182e-05	0.0002	0	2.712e-05	2.07e-05	0.0014	7.939e-05	0.0003	0.0003	9.847e-05	9.842e-05	0.0001	9.397e-05	0.0004	6.001e-05	4.875e-05	7.296e-05	4.239e-05	0	0	0.0002	0	0	0	0.0034	0.0001	0.0005	0.0004	0.396	0.12428	T	0.665	0.06427	T	0.047	0.29532	B	0.019	0.28043	B	0.504484	0.11912	N	0.774387	0.970873	0.25682	N	0.69	0.16971	N	0.95	0.43672	T	-0.07	0.08809	N	0.172	0.18376	-1.0821	0.06946	T	0.056	0.23450	T	9	0.020337522	0.00467	T	0.077746	0.72844	D	0.014	0.01968	0.238	0.16912	0.208000267992	0.20380	0.6212760885018114	0.62060	0.680826684377	0.60018	0.441346406937	0.30761	T	0.182644	0.53472	T	-0.514885	0.00471	T	-0.663115	0.08058	T	0.0281604714691639	0.01712	T	0.887511	0.61533	D	0.06880203	0.15018	0.0782601	0.17513	0.06880203	0.15018	0.0782601	0.17513	-3.19	0.12914	T	0.12639131310181814	0.12751	0.081	0.12655	B	.;.;.;.;.;.	.;.;.;.;.;.	2.441583	0.31422	18.74	0.98817718971976976	0.46736	0.58555	0.30673	D	AEFGBCI	.	.	.	-0.489391490228273	0.22428	1.197497	-0.378915861142675	0.25627	1.410451	0.999916174477668	0.45857	0.766844	0.99359	0	0.662677	0.63036	0	0.851219	0.99655	0	0.699875	0.68795	0	.	.	4.62	1.21	0.20240	0.107000	0.15212	3.132000	0.36445	0.583000	0.30283	0.426000	0.26377	0.999000	0.35428	0.961000	0.51904	0.0:0.284:0.49:0.2259	5.471	0.15967	994	0.00715	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	643.27	36	chr9	137457794	.	C	T	643.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.645;DP=222;ExcessHet=0;FS=2.359;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-1.449;SOR=1.071	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1046	5	0	1	1
chr9	137461990	137461990	C	T	exonic	PNPLA7	.	nonsynonymous SNV	PNPLA7:NM_152286:exon31:c.G3622A:p.G1208S,PNPLA7:NM_001098537:exon32:c.G3697A:p.G1233S	.	410	1109	1	2	0	5	0.00224921	.	.	.	3376691	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.222	0.0958148942985	.	.	2.793e-05	0	0	0	0	5.058e-05	0	0	1.29e-05	2	154602	rs772857527	4.413e-05	4.857e-05	4.251e-05	4.577e-05	0.0005	3.536e-05	3.218e-05	0.0001	7.625e-05	0	2.273e-05	0	0	0	0.0005	4.689e-05	6.668e-05	4.724e-05	3.285e-05	3.283e-05	5.14e-05	1.345e-05	6.543e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	6.543e-05	0	0	0	0	5.88e-05	0	0	0.07	0.36709	T	0.176	0.30729	T	0.99	0.90584	D	0.562	0.79672	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.745	0.80253	M	0.11	0.61208	T	-3.04	0.62863	D	0.27	0.30574	0.167	0.85343	D	0.543	0.83180	D	10	0.28495118	0.46077	T	0.095815	0.76495	D	0.222	0.51872	0.484	0.56621	0.403609169532	0.39974	0.6820294031966923	0.68141	0.413300811433	0.42045	0.466287642717	0.34171	T	0.075027	0.35081	T	0.047578	0.58030	T	-0.169434	0.57494	T	0.81663578748703	0.47524	D	0.883212	0.60517	D	0.40223768	0.60888	0.28211483	0.54197	0.40223768	0.60888	0.28211483	0.54196	-7.502	0.57624	D	.	.	0.112	0.27069	B	.;.	.;.	4.239124	0.64256	24.7	0.99649760256622621	0.77192	0.91226	0.53108	D	ALL	0.734879	0.68087	D	0.268715627341322	0.54569	3.622278	0.183156667498353	0.48923	3.102008	1.0	0.98316	0.608966	0.35542	0	0.093493	0.02558	3	0.503968	0.08637	0	0.505526	0.08623	0	.	.	4.47	4.47	0.53770	5.749000	0.68341	3.954000	0.40696	0.526000	0.24426	0.700000	0.28626	0.600000	0.25714	0.940000	0.48062	0.0:1.0:0.0:0.0	16.483	0.84016	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	864.49	35	chr9	137461990	.	C	T	864.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.675;DP=249;ExcessHet=0;FS=0.949;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=2.78;SOR=0.507	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1222	6	0	1	0
chr9	137464170	137464170	A	G	exonic	PNPLA7	.	nonsynonymous SNV	PNPLA7:NM_152286:exon27:c.T3107C:p.I1036T,PNPLA7:NM_001098537:exon28:c.T3182C:p.I1061T	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.705	0.368857082537	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.421e-06	3.42e-06	2.723e-06	4.126e-06	0.0002	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.881	0.57599	P	0.794	0.57880	P	0.000020	0.62929	D	0.115400	0.999999	0.58761	D	1.535	0.38868	L	-0.86	0.74477	T	-4.07	0.74661	D	0.696	0.70088	-0.0647	0.80894	T	0.469	0.79556	T	10	0.78958523	0.78543	D	0.368857	0.92696	D	0.705	0.89422	0.63	0.76588	0.43965937752	0.43585	0.8437339989186433	0.84334	0.490554936161	0.47772	0.623003602028	0.56153	T	0.356649	0.72347	T	0.187637	0.72746	D	0.0317505	0.72391	D	0.99297970533371	0.83607	D	0.961804	0.85620	D	0.25496694	0.48528	0.40335515	0.64793	0.25496694	0.48528	0.40335515	0.64793	-11.907	0.84394	D	.	.	0.696	0.74693	P	.;.	.;.	3.401445	0.47146	22.4	0.99703136483218369	0.80798	0.98110	0.79682	D	AEFDBCI	0.916076	0.88177	D	0.489353833052831	0.66466	4.953863	0.44238466308232	0.64228	4.673367	0.999999999955657	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	3.86	3.86	0.43689	6.058000	0.70754	11.225000	0.89902	0.754000	0.88378	0.935000	0.32453	1.000000	0.68203	0.437000	0.27605	1.0:0.0:0.0:0.0	12.126	0.53221	994	0.00715	Patatin-like phospholipase domain|Patatin-like phospholipase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1485.44	35	chr9	137464170	.	A	G	1485.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.64;DP=308;ExcessHet=0;FS=0.687;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-0.289;SOR=0.823	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1429	6	0	1	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G,LARP4B:NM_015155:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	917.89	56	chr10	825249	.	T	C	917.89	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.679;DP=539;ExcessHet=6.1542;FS=221.567;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2;ReadPosRankSum=1.29;SOR=10.035	GT:AD:DP:GQ:PL	0/1:92,52:144:99:364,0,1406	1	0	5	1
chr10	1379109	1379109	G	C	exonic	ADARB2	.	nonsynonymous SNV	ADARB2:NM_018702:exon2:c.C152G:p.P51R	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	.	.	0.00259585	0.0007	9.643e-05	8.652e-05	0	0	0.0002	0	0.0044	0.0006856	106	154602	rs527533816	0.0005	0.0005	0.0004	0.0007	0.0051	0.0005	0.0005	0.0047	0.0046	2.987e-05	2.236e-05	0	2.519e-05	0	0.0012	0.0003	0.0004	0.0051	0.0003	0.0003	0.0002	0.0004	0.0044	0.0002	0.0002	0.0029	0.0024	9.626e-05	0	6.537e-05	0	0.0002	0	0.0034	0.0003	0	0.0044	0.004	0.65419	D	0.043	0.49942	D	0.999	0.77913	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999894	0.50595	D	2.16	0.60381	M	1.87	0.24085	T	-2.33	0.51646	N	0.782	0.77883	-0.9518	0.40660	T	0.130	0.43989	T	10	0.009028435	0.00204	T	.	.	.	0.256	0.56694	.	.	0.123314135267	0.11883	0.4179790439558475	0.41713	2.03392677507	0.94150	0.509170889854	0.40105	T	0.041468	0.25867	T	-0.353321	0.04521	T	-0.279344	0.46872	T	0.0656566588726031	0.08027	T	0.773423	0.40508	T	0.2906039	0.52049	0.22028214	0.46798	0.2906039	0.52049	0.22028214	0.46797	-5.078	0.37674	T	.	.	0.132	0.28377	B	.	.	4.155455	0.62368	24.4	0.99838536998082916	0.91972	0.98260	0.81026	D	AEFBI	0.765172	0.70174	D	0.550584124144315	0.70118	5.454753	0.508444275652573	0.68558	5.236535	0.999993448190933	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.8	4.8	0.61157	7.696000	0.83499	11.511000	0.93003	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	16.983	0.86204	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	193.44	34	chr10	1379109	.	G	C	193.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.366;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=27.63;ReadPosRankSum=-1.068;SOR=1.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,105,1463:.	6	0	1	0
chr10	5000420	5000420	T	G	exonic	AKR1C2	.	nonsynonymous SNV	AKR1C2:NM_001135241:exon4:c.A410C:p.H137P	Obesity, hyperphagia, and developmental delay (3);46XY sex reversal 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00547066234238	.	.	0.0002	0.0009	0	0	0	0.0002	0	0	.	.	.	rs782514532	4.196e-06	4.104e-06	2.773e-06	5.644e-06	2.648e-05	1.51e-06	9.9e-07	1.34e-06	9.7e-07	0	0	0	2.648e-05	0	0	4.561e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.19782	T	0.345	0.17750	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.03	0.20959	T	-0.77	0.21429	N	0.136	0.13341	-1.0350	0.18857	T	0.018	0.07234	T	8	0.032782108	0.01437	T	0.005471	0.14075	T	0.008	0.00669	0.461	0.52916	0.185906805712	0.18197	.	.	.	.	.	.	.	.	.	.	-0.32937	0.06160	T	-0.710893	0.05249	T	0.0423445079990283	0.04118	T	0.153285	0.01319	T	.	.	.	.	.	.	.	.	-2.423	0.05276	T	.	.	0.070	0.03301	B	.	.	-0.759251	0.01190	0.058	0.25670294727286885	0.01194	0.00857	0.03413	N	AEFBHCI	0.105209	0.21028	N	-2.0967006759919	0.00130	0.005579749	-2.20370078481332	0.00110	0.004832397	0.999998847754029	0.74766	0.516011	0.20929	0	0.573888	0.26702	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	0.69	-1.38	0.08554	-2.990000	0.00722	-5.849000	0.01575	-4.334000	0.00033	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	398.45	42	chr10	5000420	.	T	G	398.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.293;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=0.974;SOR=0.556	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1164	6	0	1	0
chr10	5096551	5096551	A	G	exonic	AKR1C3	.	nonsynonymous SNV	AKR1C3:NM_001253908:exon2:c.A226G:p.R76G,AKR1C3:NM_001253909:exon2:c.A226G:p.R76G,AKR1C3:NM_003739:exon2:c.A226G:p.R76G	.	9	1508	4	1	0	6	0.00198544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	.	.	0.00399361	0.0026	9.612e-05	8.652e-05	0	0	1.502e-05	0	0.0194	0.0012679	33	26028	rs370884375	0.0011	0.0011	0.0006	0.0017	0.0178	0.0011	0.0011	0.0171	0.0168	2.989e-05	2.236e-05	0	0.0002	0	0.0007	9.895e-06	0.0015	0.0178	0.0006	0.0006	0.0003	0.0009	0.0193	0.0005	0.0005	0.0161	0.0149	0	0	0	0	0	0	0	1.47e-05	0.0009	0.0193	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000013	0.62929	D	0.000000	0.91807	0.81001	D	4.745	0.99558	H	-0.41	0.69413	T	-6.57	0.91912	D	0.872	0.86941	-0.0150	0.81943	T	0.549	0.83460	D	10	0.011538297	0.00252	T	.	.	.	0.574	0.82742	.	.	0.829090776401	0.82747	0.8314991922048894	0.83108	0.0817148320359	0.09202	0.453360050917	0.32402	T	0.148845	0.71376	T	-0.141279	0.29687	T	0.0392228	0.72877	D	0.291325500009389	0.24644	T	0.983302	0.94968	D	0.9430236	0.95555	0.8546188	0.91815	0.9430236	0.95556	0.8546188	0.91815	-12.722	0.88185	D	.	.	0.824	0.79091	P	.;.;.;.	.;.;.;.	3.805173	0.54855	23.5	0.98662321888138704	0.44345	0.81961	0.41265	D	AEFBCI	0.525749	0.54839	D	0.267788938815818	0.54523	3.617731	-0.0172486266619947	0.38936	2.301154	0.999998096679088	0.74766	0.608746	0.35421	0	0.573888	0.26702	0	0.658983	0.55881	0	0.605231	0.38476	0	.	.	2.0	0.709	0.17307	1.554000	0.35873	6.065000	0.53205	0.587000	0.30956	0.928000	0.32210	1.000000	0.68203	0.216000	0.22352	0.7357:0.2643:0.0:0.0	6.038	0.18944	982	0.03397	NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001009	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	3485.44	33	chr10	5096551	.	A	G	3485.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.559;DP=498;ExcessHet=0;FS=0.427;MLEAC=1;MLEAF=0.071;MQ=59.01;MQRankSum=0.413;QD=12.06;ReadPosRankSum=-1.87;SOR=0.652	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr10	5960555	5960555	G	A	exonic	IL15RA	.	nonsynonymous SNV	IL15RA:NM_001351097:exon3:c.C188T:p.S63L,IL15RA:NM_172200:exon3:c.C296T:p.S99L,IL15RA:NM_001243539:exon4:c.C287T:p.S96L,IL15RA:NM_001351095:exon4:c.C470T:p.S157L,IL15RA:NM_002189:exon4:c.C395T:p.S132L,IL15RA:NM_001256765:exon5:c.C653T:p.S218L,IL15RA:NM_001351096:exon5:c.C287T:p.S96L	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.0002	0.00459265	0.0026	0	0.0002	0.0309	0	0.0004	0.0023	0.0009	0.0022639	350	154602	rs77226427	0.0009	0.0009	0.0009	0.0009	0.0268	0.0009	0.0009	0.0255	0.0250	0	0	0.0028	0.0268	0	0.0005	7.284e-05	0.0011	0.0010	0.0012	0.0012	0.0011	0.0013	0.0306	0.0011	0.0010	0.0268	0.0253	0	0	0.0003	0.0014	0.0306	0	0	0.0002	0.0005	0.0004	0.815	0.55530	T	0.288	0.25362	T	0.005	0.12996	B	0.003	0.08700	B	0.660701	0.10430	N	0.815742	1	0.08975	N	-0.515	0.02571	N	1.76	0.48769	T	-0.89	0.65972	N	0.065	0.12770	-1.0106	0.26729	T	0.021	0.08686	T	10	0.0026592016	0.00041	T	.	.	.	0.033	0.08068	.	.	0.278143212241	0.27437	0.12546007304762605	0.12472	0.467503880503	0.46128	0.254234433174	0.04227	T	0.005505	0.33059	T	-0.56459	0.00238	T	-0.558009	0.16564	T	0.0209162822733366	0.00792	T	0.832017	0.52823	T	0.022825917	0.00974	0.031916793	0.01850	0.022825917	0.00974	0.031916793	0.01850	-4.796	0.35385	T	.	.	0.120	0.40473	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.887839	0.23980	16.22	0.92400438617802871	0.21813	0.00942	0.03638	N	ALL	0.045024	0.07315	N	-1.2180063251457	0.04738	0.2145193	-1.20535381796684	0.05823	0.2785604	0.99994227339459	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.19	-0.789	0.10383	0.584000	0.23565	1.553000	0.27306	-0.106000	0.15538	0.018000	0.19461	0.000000	0.08366	0.022000	0.11911	0.3479:0.0:0.6521:0.0	8.318	0.31272	715	0.56137	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001512	0.000000	0.000000	0.002941	0.000000	0.008621	0.003067	0.000000	0.07143	1173.83	48	chr10	5960555	.	G	A	1173.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.406;DP=290;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.186;SOR=0.666	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,105,1575	6	0	1	0
chr10	7172037	7172037	C	T	exonic	SFMBT2	.	nonsynonymous SNV	SFMBT2:NM_001018039:exon19:c.G2273A:p.R758Q,SFMBT2:NM_001029880:exon19:c.G2273A:p.R758Q	.	428	1075	18	1	0	20	0.00921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	0.0006	0.00259585	0.0055	0.0013	0.0037	0	0	0.0038	0.0033	0.0131	0.0018887	292	154602	rs201053114	0.0013	0.0013	0.0011	0.0016	0.0085	0.0013	0.0013	0.0080	0.0077	0.0001	0.0009	0.0004	0	6.098e-05	0.0052	0.0009	0.0022	0.0085	0.0013	0.0013	0.0011	0.0015	0.0085	0.0012	0.0011	0.0064	0.0057	0.0003	0	0.0025	0.0006	0.0002	0	0.0102	0.0014	0.0057	0.0085	0.231	0.18246	T	0.23	0.25135	T	0.056	0.22806	B	0.005	0.11217	B	0.002536	0.36389	N	0.303615	0.996878	0.43474	D	2.045	0.56016	M	2.52	0.14160	T	-1.23	0.31170	N	0.236	0.26596	-1.0365	0.18388	T	0.023	0.09741	T	10	0.00459376	0.00096	T	.	.	.	0.029	0.06676	.	.	0.082315109003	0.07666	0.375104759701921	0.37424	0.148348851149	0.16729	0.665184378624	0.62151	T	0.012759	0.11155	T	-0.592873	0.00161	T	-0.618	0.11341	T	0.0140655360192329	0.00273	T	0.89551	0.63622	D	0.07200254	0.15984	0.051237382	0.08204	0.07200254	0.15984	0.051237382	0.08203	-7.055	0.54435	T	.	.	0.098	0.16582	B	.;.	.;.	3.361552	0.46415	22.3	0.99659400991749314	0.77820	0.83120	0.42265	D	AEFDBCI	0.321095	0.42400	N	-0.291686309578214	0.29468	1.634425	-0.117831738826574	0.34671	1.997013	0.571829942565966	0.21499	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	5.25	4.34	0.51267	1.531000	0.35624	1.107000	0.24123	0.599000	0.40250	0.977000	0.34929	0.540000	0.25410	0.887000	0.42601	0.0:0.7057:0.142:0.1523	7.070	0.24350	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006091	0.005263	0.005450	0.014620	0.000000	0.008772	0.006250	0.000000	0.07143	269.49	20	chr10	7172037	.	C	T	269.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.207;DP=163;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.723;SOR=0.74	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1306	6	0	1	0
chr10	7797101	7797101	A	G	exonic	ATP5F1C	.	nonsynonymous SNV	ATP5F1C:NM_001320886:exon2:c.A5G:p.K2R,ATP5F1C:NM_001001973:exon3:c.A146G:p.K49R,ATP5F1C:NM_005174:exon3:c.A146G:p.K49R	.	439	1082	1	0	0	1	0.000461894	.	.	.	2720513	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.379	0.00281916415418	.	.	0.0001	0	0	0	0	0.0001	0	0.0005	0.00011	17	154602	rs755191204	5.609e-05	5.609e-05	4.492e-05	6.738e-05	0.0003	4.61e-05	4.236e-05	0.0002	0.0002	0	4.472e-05	0.0001	0	1.872e-05	0.0003	3.777e-05	3.312e-05	0.0003	3.285e-05	3.283e-05	2.569e-05	4.034e-05	0.0002	1.261e-05	7.98e-06	4.88e-06	1.83e-06	2.412e-05	0	6.539e-05	0	0	0	0	2.939e-05	0	0.0002	0.003	0.68238	D	0.006	0.70582	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.61	0.76335	M	.	.	.	-2.74	0.58248	D	0.806	0.80180	-0.1218	0.79592	T	0.421	0.76650	T	9	0.71285987	0.73157	D	0.002819	0.05898	T	0.379	0.69696	0.591	0.71999	0.705890645922	0.70333	0.852623477085398	0.85224	0.741301081533	0.63278	0.850009083748	0.89617	D	0.547969	0.84642	D	0.0402807	0.57082	T	0.13624	0.79301	D	0.280159590706278	0.24178	T	0.975702	0.91457	D	0.68976164	0.77499	0.6335837	0.78616	0.68976164	0.77500	0.6335837	0.78617	-12.906	0.88972	D	.	.	0.394	0.62078	A	.;.	.;.	4.995922	0.82855	27.9	0.99909751939112745	0.97949	0.98982	0.89513	D	AEFBI	0.957074	0.97603	D	0.806577933809832	0.86516	8.910554	0.775546329592558	0.88046	9.437853	0.999999999999705	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.17	5.17	0.70848	9.162000	0.93899	11.086000	0.85840	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.009	0.71191	783	0.47268	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	505.44	31	chr10	7797101	.	A	G	505.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.088;DP=244;ExcessHet=0;FS=0.926;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.92;ReadPosRankSum=0.366;SOR=0.699	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	6	0	1	0
chr10	13283784	13283784	C	T	exonic	PHYH	.	nonsynonymous SNV	PHYH:NM_001323083:exon5:c.G470A:p.R157Q,PHYH:NM_001037537:exon6:c.G434A:p.R145Q,PHYH:NM_001323084:exon6:c.G440A:p.R147Q,PHYH:NM_001323080:exon7:c.G434A:p.R145Q,PHYH:NM_001323082:exon7:c.G740A:p.R247Q,PHYH:NM_006214:exon7:c.G734A:p.R245Q	Refsum disease, Autosomal recessive	0	1465	55	2	0	59	0.019739	.	.	YES	195700	Vitamin_D-dependent_rickets_type_II_with_alopecia|not_provided|Nonsyndromic_cleft_lip_palate|Retinal_dystrophy|Phytanic_acid_storage_disease|not_specified	MONDO:MONDO:0010186,MedGen:C0342646,OMIM:277440,Orphanet:93160|MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0009958,MedGen:C0034960,OMIM:266500,Orphanet:773|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.709	.	0.0045	0.00539137	0.0078	0.0012	0.0021	0.0002	0.0248	0.0079	0.0121	0.0127	0.0070374	1088	154602	rs62619919	0.0073	0.0073	0.0070	0.0076	0.0131	0.0072	0.0071	0.0125	0.0122	0.0011	0.0020	0.0020	7.557e-05	0.0242	0.0090	0.0068	0.0067	0.0131	0.0069	0.0070	0.0060	0.0079	0.0125	0.0066	0.0065	0.0099	0.0090	0.0011	0.0220	0.0016	0.0029	0	0.0299	0.0102	0.0083	0.0057	0.0125	0.061	0.41364	T	0.168	0.47581	T	0.948	0.53620	P	0.393	0.44248	B	0.000001	0.62929	D	0.095783	0.999999	0.58761	D	2.14	0.59869	M	-2.57	0.89692	D	-3.21	0.64826	D	0.746	0.83066	-0.0996	0.80107	T	0.487	0.80456	T	10	0.0109907985	0.00242	T	.	.	.	0.709	0.89605	.	.	0.819945016332	0.81825	0.7508317222829632	0.75030	0.422443036558	0.42745	0.316044032574	0.12821	T	0.851272	0.96618	D	0.0250171	0.55056	T	0.27419	0.86805	D	0.0586197129615423	0.06950	T	0.847515	0.53448	T	0.76901144	0.81988	0.5183276	0.72170	0.70621306	0.78400	0.5136754	0.71899	-5.679	0.46414	T	0.5775603130396747	0.64448	0.128	0.28693	B	.;.;.;.	.;.;.;.	2.910204	0.38601	20.8	0.99870173341436463	0.94815	0.82671	0.41867	D	AEFBCI	0.538925	0.55611	D	-0.0498178549336814	0.39610	2.338688	-0.0804250776182471	0.36199	2.10369	0.999955430836531	0.48110	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.75	4.85	0.62375	3.386000	0.52232	0.015000	0.13501	0.541000	0.25215	0.995000	0.38783	0.000000	0.08366	0.076000	0.17014	0.0:0.8455:0.0:0.1545	11.581	0.50145	934	0.15400	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.005435	0.002924	0.000000	0.008621	0.006098	0.007576	0.07143	532.53	33	chr10	13283784	.	C	T	532.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.13;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-2.456;SOR=0.61	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1098	6	0	1	0
chr10	13439300	13439300	A	C	exonic	BEND7	.	nonsynonymous SNV	BEND7:NM_152751:exon9:c.T1279G:p.F427V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00325662057315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.12996	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	.	.	.	0.78	0.49358	T	0.07	0.06138	N	0.036	0.01068	-1.0298	0.20519	T	0.058	0.24428	T	9	0.049644917	0.04584	T	0.003257	0.07207	T	0.028	0.06331	0.236	0.16608	0.128392430309	0.12331	0.013637069840049159	0.01321	0.470944129722	0.46361	0.270769536495	0.06242	T	.	.	.	-0.232307	0.16345	T	-0.571469	0.15316	T	0.0378240408655323	0.03301	T	0.367163	0.08573	T	.	.	.	.	.	.	.	.	-2.948	0.09632	T	.	.	0.129	0.27493	B	.	.	-0.538716	0.01747	0.131	0.89350618234460855	0.18722	0.02406	0.06812	N	AEFDGBI	0.031264	0.03305	N	-1.28355518983921	0.03873	0.1738102	-1.33825494070615	0.03946	0.1851374	0.999986024081187	0.51787	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	2.32	-0.111	0.12914	-0.287000	0.08423	-1.674000	0.04940	-0.054000	0.16847	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6693:0.0:0.3307:0.0	4.479	0.11172	889	0.27310	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1987.44	33	chr10	13439300	.	A	C	1987.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.389;DP=386;ExcessHet=0;FS=4.131;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=-0.731;SOR=0.717	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1400	6	0	1	0
chr10	14774379	14774379	G	C	exonic	FAM107B	.	nonsynonymous SNV	FAM107B:NM_031453:exon1:c.C285G:p.H95Q	.	435	1053	30	4	0	38	0.0177239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	.	0.0052	0.00499201	0.0078	0.0024	0.0060	0.0002	0.0042	0.0099	0.0143	0.0090	0.0074579	1153	154602	rs144131218	0.0071	0.0071	0.0071	0.0072	0.0257	0.0070	0.0070	0.0223	0.0210	0.0026	0.0057	0.0210	5.038e-05	0.0051	0.0257	0.0071	0.0088	0.0088	0.0058	0.0058	0.0057	0.0058	0.0077	0.0054	0.0053	0.0069	0.0067	0.0021	0.0066	0.0063	0.0176	0.0004	0.0046	0.0306	0.0075	0.0099	0.0077	0.01	0.56456	D	0.013	0.63109	D	0.039	0.21116	B	0.025	0.20508	B	0.409184	0.13020	N	0.659654	1	0.08975	N	.	.	.	0.95	0.43279	T	-0.34	0.12661	N	0.089	0.06720	-1.0440	0.16118	T	0.034	0.14552	T	10	0.0039682686	0.00076	T	.	.	.	0.096	0.27654	0.069	0.00373	0.0401082797425	0.02173	0.045393378275196114	0.04483	0.137498292665	0.15505	0.269615024328	0.06091	T	.	.	.	-0.661509	0.00061	T	-0.716307	0.04976	T	0.00527193897329937	0.00057	T	0.29867	0.05569	T	.	.	.	.	.	.	.	.	-2.665	0.07014	T	.	.	0.093	0.14015	B	.	.	0.433597	0.08038	4.760	0.46671962577178489	0.03756	0.10494	0.15985	N	AEFBI	0.085575	0.17348	N	-1.29361667126291	0.03751	0.1681429	-1.30599892829859	0.04352	0.2050923	1.49545221312901E-5	0.02871	0.446893	0.09132	0	0.563428	0.19063	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	5.23	-1.32	0.08721	-0.031000	0.12237	1.301000	0.25475	-0.818000	0.02990	0.193000	0.24225	0.898000	0.27928	0.001000	0.02609	0.3458:0.1249:0.2687:0.2606	0.470	0.00494	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021652	0.015152	0.031250	0.038012	0.000000	0.025862	0.009146	0.003788	0.07143	2917.44	35	chr10	14774379	.	G	C	2917.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.904;DP=374;ExcessHet=0;FS=1.178;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.86;ReadPosRankSum=1.22;SOR=0.809	GT:AD:DP:GQ:PL	0/1:77,107:184:99:2928,0,1972	6	0	1	0
chr10	14867895	14867895	A	G	exonic	HSPA14	.	nonsynonymous SNV	HSPA14:NM_016299:exon12:c.A1366G:p.T456A	.	.	.	.	.	.	.	.	.	.	.	2714079	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.021339960336	.	.	2.484e-05	0	0.0002	0	0	0	0.0011	0	1.94e-05	3	154602	rs201930086	8.213e-06	8.209e-06	1.226e-05	4.127e-06	0.0001	4.38e-06	3.46e-06	4.377e-05	2.779e-05	2.992e-05	0.0001	0	0	0	0	5.397e-06	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0001	2.18e-06	8.2e-07	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	0.047	0.40319	D	0.767	0.04523	T	0.0	0.02946	B	0.0	0.01387	B	0.023517	0.26429	N	0.441828	0.999952	0.19072	N	0.935	0.23595	L	5.51	0.00912	T	-0.79	0.21860	N	0.143	0.14338	-0.7273	0.59099	T	0.003	0.00994	T	10	0.048625737	0.04339	T	0.02134	0.44093	T	0.074	0.21613	0.439	0.49321	0.082315109003	0.07666	0.16758082006675482	0.16678	0.294378152891	0.31862	0.300307869911	0.10446	T	0.034521	0.23354	T	-0.499271	0.00577	T	-0.729243	0.04361	T	0.191528931260109	0.19934	T	0.378362	0.09086	T	0.04477211	0.07216	0.037432063	0.03395	0.04477211	0.07216	0.037432063	0.03394	-5.051	0.37389	T	.	.	0.069	0.03093	B	.	.	1.536553	0.19710	14.40	0.99005110119225592	0.50231	0.43551	0.27123	N	AEFDBI	0.064697	0.12578	N	-0.384944173788487	0.26004	1.415963	-0.247439973692855	0.29861	1.676382	0.997115232472082	0.35288	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.92	3.54	0.39650	0.785000	0.26491	5.229000	0.48025	0.756000	0.94297	0.443000	0.26511	1.000000	0.68203	0.951000	0.49849	0.6206:0.0:0.2566:0.1229	5.182	0.14491	537	0.73184	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1287.53	33	chr10	14867895	.	A	G	1287.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.4;DP=288;ExcessHet=0;FS=0.725;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-3.109;SOR=0.781	GT:AD:DP:GQ:PL	0/1:58,53:111:99:1298,0,1369	6	0	1	0
chr10	15104021	15104021	T	C	exonic	RPP38	.	nonsynonymous SNV	RPP38:NM_001265601:exon2:c.T707C:p.F236S,RPP38:NM_006414:exon2:c.T707C:p.F236S,RPP38:NM_001097590:exon3:c.T707C:p.F236S,RPP38:NM_183005:exon3:c.T707C:p.F236S	.	437	1037	48	0	0	48	0.0226202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0005	0.00658946	0.0049	0.0004	0.0019	0.0154	0	0.0019	0.0055	0.0183	0.004379	677	154602	rs145152071	0.0026	0.0026	0.0020	0.0033	0.0302	0.0026	0.0025	0.0265	0.0251	0.0007	0.0019	0.0026	0.0107	3.744e-05	0.0302	0.0010	0.0038	0.0195	0.0023	0.0023	0.0018	0.0028	0.0205	0.0021	0.0020	0.0173	0.0160	0.0005	0	0.0018	0.0035	0.0137	0	0.0204	0.0016	0.0038	0.0205	0.406	0.10278	T	0.548	0.09489	T	0.003	0.11197	B	0.002	0.06944	B	0.972269	0.07787	N	1.014050	1	0.08975	N	2.01	0.54746	M	2.98	0.09356	T	-0.14	0.09135	N	0.084	0.06059	-0.9139	0.46364	T	0.015	0.06042	T	10	0.003263712	0.00056	T	.	.	.	0.038	0.09825	.	.	0.219573609325	0.21563	0.2349481285067767	0.23409	0.154710486626	0.17472	0.283195614815	0.07942	T	0.005185	0.04625	T	-0.619601	0.00111	T	-0.647195	0.09152	T	0.00119366092255091	0.00012	T	0.410359	0.10588	T	0.1212417	0.28514	0.037867542	0.03531	0.1212417	0.28514	0.037867542	0.03530	-1.537	0.01841	T	.	.	0.092	0.13362	B	.;.;.;.	.;.;.;.	0.245468	0.06252	2.707	0.55435688288076312	0.05342	0.05553	0.11449	N	AEFBCI	0.079022	0.15954	N	-1.19906891468011	0.05014	0.2276249	-1.23858193631294	0.05302	0.2523114	0.968855460798282	0.29083	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.88	-3.73	0.04112	-0.624000	0.05637	-0.067000	0.12346	-0.888000	0.02403	0.012000	0.18695	0.349000	0.24462	0.504000	0.29107	0.2082:0.3853:0.2135:0.193	2.386	0.04099	867	0.32089	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.022659	0.010101	0.017663	0.043860	0.000000	0.025862	0.009146	0.018939	0.07143	1378.83	42	chr10	15104021	.	T	C	1378.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.398;DP=300;ExcessHet=0;FS=3.207;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.45;ReadPosRankSum=-0.395;SOR=1.126	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1121	6	0	1	0
chr10	15132925	15132925	C	T	exonic	NMT2	.	nonsynonymous SNV	NMT2:NM_004808:exon6:c.G611A:p.R204H,NMT2:NM_001308295:exon7:c.G572A:p.R191H	.	420	1079	22	1	0	24	0.0109991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0232999992965	0.0006	0.000399361	0.0011	0	0.0005	0	0	0.0014	0.0022	0.0022	0.0010155	157	154602	rs149229412	0.0009	0.0009	0.0008	0.0009	0.0059	0.0008	0.0008	0.0043	0.0038	0.0002	0.0007	0.0064	0	0.0001	0.0059	0.0007	0.0014	0.0020	0.0010	0.0010	0.0009	0.0012	0.0017	0.0009	0.0008	0.0010	0.0009	0.0002	0.0077	0.0012	0.0072	0	9.432e-05	0.0102	0.0012	0.0014	0.0017	0.052	0.39097	T	0.124	0.35455	T	0.997	0.70673	D	0.877	0.65739	P	0.000000	0.84330	D	0.048080	1	0.81001	D	1.73	0.44655	L	0.92	0.44461	T	-2.14	0.49684	N	0.28	0.31702	-0.7865	0.55933	T	0.214	0.57481	T	10	0.015343785	0.00322	T	0.023	0.46253	T	0.219	0.51417	.	.	0.646692631277	0.64376	0.6671797662300799	0.66655	1.47514625927	0.86607	0.723498463631	0.70557	T	0.066693	0.33011	T	-0.390677	0.02663	T	-0.340741	0.40259	T	0.052325215190649	0.05903	T	0.986551	0.95418	D	0.32818633	0.55322	0.26385662	0.52197	0.32818633	0.55322	0.26385662	0.52196	-7.866	0.60153	D	.	.	0.137	0.29806	B	.;.	.;.	5.367495	0.89995	31	0.99939035407802168	0.99734	0.98720	0.85993	D	AEFBI	0.717852	0.66923	D	0.706618233948671	0.80067	7.212702	0.73089363104848	0.84726	8.372591	0.999999999972394	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.679469	0.61720	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	6.169000	0.71792	5.974000	0.52050	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.835	0.96647	845	0.36510	Myristoyl-CoA:protein N-myristoyltransferase, N-terminal;Myristoyl-CoA:protein N-myristoyltransferase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.017241	0.000000	0.007576	0.1429	2926.44	37	chr10	15132925	.	C	T	2926.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.189;DP=372;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=-0.052;SOR=0.726	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	5	0	2	0
chr10	15531075	15531075	G	C	exonic	ITGA8	.	nonsynonymous SNV	ITGA8:NM_001291494:exon27:c.C2912G:p.A971G,ITGA8:NM_003638:exon28:c.C2957G:p.A986G	Renal hypodysplasia/aplasia 1, Autosomal recessive	442	1077	3	0	0	3	0.00139082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.0144080676915	.	0.000199681	2.471e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs565775882	1.686e-05	1.984e-05	6.985e-06	2.684e-05	0.0003	1.14e-05	9.58e-06	0.0002	0.0002	0	0	0	0	0	0	0	5.08e-05	0.0003	1.314e-05	1.313e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	7.304e-05	3.034e-05	0	0	0	0	0	0	0	0	0	0.0004	0.375	0.11370	T	0.379	0.16037	T	0.605	0.39444	P	0.108	0.31289	B	0.008571	0.30776	N	0.386403	0.54228	0.32064	D	2.19	0.61577	M	0.76	0.49919	T	-2.21	0.49684	N	0.316	0.35620	-0.8737	0.50249	T	0.114	0.40605	T	10	0.095507056	0.17063	T	0.014408	0.34508	T	0.100	0.28662	0.298	0.26362	0.572793788404	0.56946	0.42364972184025196	0.42281	0.088865395034	0.10049	0.331459969282	0.15156	T	0.178242	0.52882	T	-0.38506	0.02893	T	-0.49874	0.22479	T	0.175159607195467	0.18924	T	0.751225	0.37284	T	0.10493035	0.24806	0.12704834	0.30589	0.10493035	0.24806	0.12704834	0.30589	-4.697	0.33367	T	.	.	0.098	0.16363	B	.	.	2.262584	0.28910	17.95	0.96672887928537254	0.30672	0.88008	0.47752	D	AEFDI	0.316261	0.42060	N	-0.0181044007145572	0.41036	2.447482	0.0115327084295308	0.40250	2.399088	1.00632612411498E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.64	2.7	0.31007	2.932000	0.48633	3.796000	0.39849	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0687:0.0:0.6689:0.2624	9.162	0.36189	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	345.63	22	chr10	15531075	.	G	C	345.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.472;DP=188;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=-0.212;SOR=0.593	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	6	0	1	0
chr10	15786605	15786605	T	C	exonic	MINDY3	.	nonsynonymous SNV	MINDY3:NM_001318330:exon12:c.A553G:p.I185V,MINDY3:NM_024948:exon13:c.A1072G:p.I358V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00764646248318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.884e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.33585	T	0.144	0.43721	T	0.854	0.47077	P	0.561	0.49582	P	0.000000	0.84330	D	0.046090	0.999998	0.58761	D	.	.	.	1.35	0.34648	T	-0.79	0.21860	N	0.351	0.39254	-0.9547	0.40149	T	0.134	0.44856	T	10	0.33790162	0.50904	T	0.007646	0.20299	T	0.104	0.29647	0.417	0.45709	0.117191471859	0.11215	0.29488749243866924	0.29401	0.110849007013	0.12512	0.790306091309	0.80490	T	0.073	0.34616	T	-0.123486	0.32554	T	-0.415155	0.31631	T	0.655807673931122	0.38713	D	0.927007	0.73102	D	0.16934788	0.37445	0.1360903	0.32565	0.16934788	0.37445	0.1360903	0.32564	-10.573	0.77266	D	.	.	0.133	0.49048	B	.;.	.;.	3.708980	0.52937	23.3	0.99883937248878718	0.95970	0.95907	0.66669	D	AEFBI	0.489796	0.52755	N	0.494721475490579	0.66780	4.994687	0.539890980461801	0.70698	5.543418	0.999999789403579	0.74766	0.732398	0.92422	0	0.666794	0.63253	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.52	5.52	0.82153	4.977000	0.63509	6.200000	0.54880	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.925	0.79395	905	0.23532	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	191.04	56	chr10	15786605	.	T	C	191.04	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.364;DP=461;ExcessHet=4.7409;FS=333.852;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=0.49;ReadPosRankSum=-0.169;SOR=9.21	GT:AD:DP:GQ:PL	0/0:65,0:65:88:0,88,1351	2	0	5	0
chr10	17071506	17071506	G	A	exonic	CUBN	.	nonsynonymous SNV	CUBN:NM_001081:exon19:c.C2545T:p.P849S	Megaloblastic anemia-1, Finnish type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.330	0.0318425801303	.	.	2.474e-05	0	8.67e-05	0	0	0	0	0.0001	1.94e-05	3	154602	rs745774000	5.473e-06	5.472e-06	2.723e-06	8.251e-06	0.0002	2.35e-06	1.7e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	0	3.312e-05	5.797e-05	6.575e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.092	0.31682	T	0.125	0.35330	T	0.962	0.55554	D	0.677	0.53365	P	0.001190	0.39899	N	0.000000	0.99513	0.42558	D	1.815	0.47718	L	1.06	0.39781	T	-6.08	0.89910	D	0.352	0.39356	-0.8789	0.49848	T	0.161	0.49681	T	10	0.60390216	0.67065	D	0.031843	0.53829	D	0.330	0.65226	0.743	0.87486	0.748251083934	0.74598	0.6725476328376706	0.67192	0.404307218436	0.41335	0.432484030724	0.29548	T	0.248423	0.61822	T	-0.281102	0.10551	T	-0.438906	0.28931	T	0.892468631267548	0.54356	D	0.70443	0.31478	T	0.21707428	0.44181	0.34635487	0.60304	0.21707428	0.44181	0.34635487	0.60304	-6.153	0.47542	T	0.6807537338335194	0.75709	0.114	0.22573	B	.	.	3.348402	0.46170	22.3	0.99797648397823535	0.88283	0.96320	0.68563	D	AEFBI	0.642885	0.61970	D	0.402160637080541	0.61542	4.356669	0.363310021193281	0.59314	4.10813	0.999999774933871	0.74766	0.559995	0.30671	0	0.573888	0.26702	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	5.47	5.47	0.80345	5.526000	0.66832	8.698000	0.78098	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.121000	0.19209	0.0721:0.0:0.9279:0.0	14.637	0.68298	864	0.32732	CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2622.44	34	chr10	17071506	.	G	A	2622.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.377;DP=419;ExcessHet=0;FS=1.606;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=0.348;SOR=0.8	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1155	6	0	1	0
chr10	17796410	17796410	T	G	exonic	TMEM236	.	nonsynonymous SNV	TMEM236:NM_001098844:exon4:c.T962G:p.L321R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306	0.00741813772929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338594101	7.526e-06	7.525e-06	8.169e-06	6.877e-06	0.0002	4.04e-06	2.95e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0.0002	5.397e-06	3.313e-05	1.159e-05	1.972e-05	1.97e-05	3.854e-05	0	0.0001	5.24e-06	2.45e-06	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	1.47e-05	0	0	0.02	0.49613	D	0.012	0.63918	D	0.999	0.77913	D	0.982	0.75477	D	0.002848	0.35836	N	0.192298	0.991447	0.41390	D	.	.	.	0.7	0.51474	T	-3.95	0.73477	D	0.759	0.75742	-0.5498	0.66794	T	0.260	0.63110	T	10	0.7524926	0.75740	D	0.029428	0.51938	D	0.311	0.63269	0.546	0.66015	0.0954503805726	0.09146	0.6757654553765741	0.67514	.	.	0.609037876129	0.54178	T	0.168077	0.51495	T	0.0886221	0.63033	D	-0.110477	0.62574	T	0.980169594287872	0.73213	D	0.754725	0.37732	T	0.30822727	0.53632	0.4005658	0.64590	0.30822727	0.53632	0.4005658	0.64590	-9.745	0.72371	D	.	.	0.918	0.84029	P	.	.	4.464051	0.69498	25.4	0.99757727328600465	0.84772	0.85585	0.44733	D	AEFI	0.239831	0.36172	N	0.487111521244984	0.66336	4.937046	0.40540467881523	0.61901	4.39687	1.89006552306818E-4	0.05844	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.61	4.61	0.56724	3.812000	0.55333	7.800000	0.69123	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.855000	0.40485	0.0:0.0:0.0:1.0	10.395	0.43380	928	0.17405	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1166.44	34	chr10	17796410	.	T	G	1166.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.892;DP=303;ExcessHet=0;FS=1.643;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.898;SOR=0.511	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	6	0	1	0
chr10	19817146	19817146	G	C	exonic	PLXDC2	.	nonsynonymous SNV	PLXDC2:NM_001282736:exon1:c.G67C:p.D23H,PLXDC2:NM_032812:exon1:c.G67C:p.D23H	.	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0405190844968	0.0002	0.000798722	0.0009	0	0.0074	0	0	0.0009	0.0035	0.0002	0.0003946	61	154602	rs150292075	0.0003	0.0003	0.0003	0.0003	0.0087	0.0002	0.0002	0.0068	0.0061	0.0003	0.0015	7.826e-05	0	0	0.0087	0.0002	0.0007	7.299e-05	0.0004	0.0004	0.0005	0.0004	0.0021	0.0003	0.0003	0.0015	0.0013	0.0001	0	0.0021	0	0	0	0.0136	0.0003	0.0019	0	0.002	0.72154	D	0.018	0.67890	D	0.801	0.47190	P	0.742	0.55764	P	0.001524	0.38731	N	0.166693	1	0.81001	D	1.39	0.34934	L	1.71	0.26737	T	-1.55	0.37566	N	0.345	0.41853	-1.0918	0.05238	T	0.047	0.20275	T	10	0.007012278	0.00160	T	0.040519	0.59420	D	0.205	0.49236	.	.	0.187035705434	0.18338	0.446007505819708	0.44518	0.376332469476	0.39071	0.530219912529	0.43065	T	0.028073	0.20418	T	-0.301996	0.08472	T	-0.241951	0.50608	T	0.115586259299294	0.13993	T	0.776522	0.40874	T	0.16553186	0.36831	0.14619349	0.34644	0.16553186	0.36831	0.14619349	0.34643	-3.439	0.17367	T	.	.	0.136	0.29588	B	.;.	.;.	3.758475	0.53913	23.4	0.99175170587543982	0.54498	0.59426	0.30912	D	AEFDBCIJ	0.313630	0.41873	N	0.125047763545003	0.47633	2.986314	0.111668968394132	0.45143	2.782886	0.999999961026211	0.74766	0.582742	0.33608	0	0.541168	0.11318	0	0.52208	0.10781	0	0.603991	0.37454	0	.	.	4.57	4.57	0.55860	4.525000	0.60274	4.166000	0.42242	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.041000	0.14368	0.0:0.0:1.0:0.0	12.741	0.56624	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008147	0.021739	0.009537	0.011696	0.000000	0.008621	0.000000	0.000000	0.07143	101.44	35	chr10	19817146	.	G	C	101.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.207;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.45;ReadPosRankSum=0.154;SOR=0.307	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,105,1575	6	0	1	0
chr10	21759349	21759349	T	C	exonic	DNAJC1	.	nonsynonymous SNV	DNAJC1:NM_022365:exon11:c.A1417G:p.I473V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0125026916086	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs774207365	1.231e-05	1.231e-05	1.361e-05	1.1e-05	1.529e-05	7.7e-06	6.35e-06	9.31e-06	7.61e-06	0	0	0	0	0	0	1.529e-05	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.001874	0.00835	N	2.745070	1	0.08975	N	0.49	0.13296	N	0.02	0.62318	T	0.24	0.04533	N	0.011	0.00110	-1.0070	0.27850	T	0.065	0.26702	T	10	0.017551482	0.00375	T	0.012503	0.31128	T	0.044	0.11924	0.12	0.02719	0.12205267543	0.11705	0.10874879878709136	0.10803	0.146429777507	0.16529	0.230087026954	0.01974	T	0.011462	0.10227	T	-0.337693	0.05549	T	-0.707363	0.05432	T	0.012504986348754	0.00207	T	0.0857914	0.00629	T	0.016838629	0.00226	0.018371703	0.00054	0.016838629	0.00226	0.018371703	0.00054	-2.762	0.07839	T	.	.	0.061	0.01075	B	.	.	-1.957600	0.00111	0.002	0.22528714243742845	0.00910	0.04177	0.09676	N	AEFDGBI	0.083696	0.16958	N	-2.14619306355472	0.00101	0.004328018	-2.20100796496336	0.00111	0.004898288	0.999999997032144	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.58	-11.2	0.00099	-0.949000	0.04003	-4.144000	0.02317	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0847:0.3248:0.3146:0.2759	4.124	0.09587	750	0.51762	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	542.83	34	chr10	21759349	.	T	C	542.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.475;DP=227;ExcessHet=0;FS=6.121;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-0.735;SOR=0.374	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	6	0	1	0
chr10	22209387	22209387	T	A	exonic	EBLN1	.	nonsynonymous SNV	EBLN1:NM_001199938:exon1:c.A597T:p.R199S	.	421	1090	11	0	0	11	0.00502054	.	.	.	3667192	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	0.0117810021079	.	.	1.775e-05	0	0	0	0	1.621e-05	0	6.219e-05	1.29e-05	2	154602	rs745332913	2.065e-05	2.052e-05	1.781e-05	2.351e-05	0.0003	1.465e-05	1.271e-05	6.094e-05	4.042e-05	0	2.236e-05	0	0	0	0.0003	1.259e-05	6.632e-05	0.0001	3.938e-05	3.937e-05	2.569e-05	5.37e-05	0.0004	1.714e-05	1.128e-05	7.296e-05	3.031e-05	0	0	0	0	0	0	0	5.88e-05	0	0.0004	.	.	.	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.695	0.17993	N	.	.	.	.	.	.	0.26	0.29429	.	.	.	.	.	.	.	0.09687188	0.17407	T	0.011781	0.29743	T	.	.	.	.	0.112648838833	0.10856	0.29592092594893377	0.29505	1.35774008343	0.84223	0.381962537766	0.22535	T	0.050999	0.28754	T	-0.0479331	0.44761	T	-0.205999	0.54076	T	.	.	.	0.443756	0.12347	T	0.31437427	0.54162	0.3867374	0.63559	0.31437427	0.54162	0.3867374	0.63559	-3.158	0.11975	T	.	.	0.488	0.64039	A	.	.	2.059502	0.26183	17.03	0.86006770010578037	0.16253	0.00787	0.03223	N	AEFBI	0.036251	0.04802	N	.	.	.	.	.	.	1.53552691366679E-5	0.02871	0.080785	0.02172	0	0.063388	0.01293	0	0.060301	0.00762	0	0.10565	0.03146	0	.	.	0.51	0.51	0.16183	-0.083000	0.11250	-0.718000	0.07718	0.366000	0.20181	0.063000	0.21864	0.000000	0.08366	0.731000	0.35132	.	.	.	645	0.63593	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1203.44	121	chr10	22209387	.	T	A	1203.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.441;DP=756;ExcessHet=0;FS=0.689;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=0.277;SOR=0.818	GT:AD:DP:GQ:PL	0/0:230,0:230:99:0,120,1800	6	0	1	0
chr10	24473904	24473904	G	A	exonic	KIAA1217	.	nonsynonymous SNV	KIAA1217:NM_001282769:exon2:c.G677A:p.R226H,KIAA1217:NM_001282770:exon2:c.G677A:p.R226H,KIAA1217:NM_001321681:exon2:c.G677A:p.R226H,KIAA1217:NM_001282767:exon6:c.G1523A:p.R508H,KIAA1217:NM_001282768:exon6:c.G1523A:p.R508H,KIAA1217:NM_019590:exon6:c.G1523A:p.R508H,KIAA1217:NM_001098500:exon7:c.G1283A:p.R428H	.	435	1062	23	2	0	27	0.0125523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.531	.	0.0042	0.00279553	0.0057	0.0011	0.0034	0.0003	0.0032	0.0069	0.0044	0.0098	0.0056532	874	154602	rs41279868	0.0067	0.0067	0.0066	0.0067	0.0102	0.0066	0.0065	0.0097	0.0095	0.0011	0.0023	0.0024	5.038e-05	0.0042	0.0080	0.0072	0.0061	0.0102	0.0039	0.0039	0.0042	0.0037	0.0108	0.0037	0.0036	0.0085	0.0076	0.0007	0.0088	0.0024	0.0023	0.0002	0.0030	0.0068	0.0061	0.0061	0.0108	0.0	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.047397	0.999999	0.81001	D	2.485	0.72352	M	0.67	0.52187	T	-4.21	0.78046	D	0.783	0.81261	-0.4162	0.71513	T	0.263	0.63361	T	10	0.007798493	0.00177	T	.	.	.	0.531	0.80247	.	.	0.731578513301	0.72918	0.4624375204723641	0.46161	0.633570060492	0.57251	0.573865771294	0.49224	T	0.261078	0.89468	T	-0.0933595	0.37521	T	0.100938	0.76970	D	0.0433894866553355	0.04310	T	0.973903	0.93484	D	0.6997425	0.78042	0.53233963	0.72977	0.6997425	0.78044	0.53233963	0.72978	-8.704	0.76230	D	.	.	0.378	0.65221	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.210104	0.87424	29.2	0.99955902370276051	0.99975	0.99064	0.90698	D	AEFBCI	0.930736	0.91849	D	0.866259133105656	0.90014	10.21514	0.827265161731744	0.91621	10.98079	0.999999999319612	0.74766	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.37	5.37	0.76949	9.211000	0.94222	9.905000	0.82381	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	0.0:0.0:1.0:0.0	19.094	0.93225	943	0.12886	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.006793	0.002924	0.000000	0.008621	0.003049	0.018939	0.1429	1896.34	36	chr10	24473904	.	G	A	1896.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.104;DP=330;ExcessHet=0.3476;FS=0.557;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=1.6;SOR=0.645	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,953	5	0	2	0
chr10	25175986	25175986	A	T	exonic	GPR158	.	nonsynonymous SNV	GPR158:NM_020752:exon1:c.A566T:p.Q189L	.	430	1077	15	0	0	15	0.00691563	.	.	.	2343387	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.521	0.0808331269464	.	.	4.423e-05	0	0.0002	0	0	4.828e-05	0	0	4.53e-05	7	154602	rs535710420	4.107e-05	4.104e-05	3.541e-05	4.678e-05	0.0016	3.246e-05	2.921e-05	0.0008	0.0006	0	2.237e-05	0	0	0	0.0016	3.597e-05	9.938e-05	4.638e-05	4.603e-05	4.597e-05	3.857e-05	5.385e-05	0.0001	2.111e-05	1.528e-05	2.262e-05	9.08e-06	4.83e-05	0	0.0001	0	0	0	0	4.411e-05	0	0	0.045	0.40832	D	0.096	0.39340	T	0.454	0.36182	P	0.235	0.38432	B	0.000860	0.41440	D	0.160748	0.923997	0.36762	D	1.82	0.47800	L	-1.22	0.78752	T	-3.43	0.67359	D	0.486	0.52029	-0.1522	0.78862	T	0.389	0.74327	T	10	0.3945284	0.55130	T	0.080833	0.73548	D	0.521	0.79643	0.406	0.43902	0.753747480567	0.75152	0.6541067579616479	0.65346	0.865643695533	0.69194	0.382573723793	0.22622	T	0.162381	0.50702	T	0.052716	0.58692	T	0.0137932	0.71228	D	0.792173862457275	0.45832	D	0.743426	0.36851	T	0.48440534	0.66166	0.5653129	0.74840	0.48440534	0.66167	0.5653129	0.74841	-2.854	0.08691	T	.	.	0.111	0.22789	B	.;.	.;.	2.701488	0.35291	19.86	0.98752928503465109	0.45694	0.19884	0.20832	N	AEFDBHCIJ	0.421155	0.48769	N	0.138520089536652	0.48268	3.041307	0.21928645701698	0.50919	3.278974	0.997588130521891	0.35786	0.443343	0.08805	1	0.563428	0.19063	0	0.666236	0.60216	0	0.530356	0.10902	0	.	.	4.77	4.77	0.60425	2.130000	0.41687	6.851000	0.56739	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.457	0.67002	861	0.33516	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001038	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	360.83	42	chr10	25175986	.	A	T	360.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.805;DP=250;ExcessHet=0;FS=3.144;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.59;ReadPosRankSum=-0.118;SOR=1.368	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1142	6	0	1	0
chr10	26224622	26224622	G	A	exonic	GAD2	.	nonsynonymous SNV	GAD2:NM_000818:exon6:c.G695A:p.G232E,GAD2:NM_001134366:exon6:c.G695A:p.G232E	.	415	1103	4	0	0	4	0.00180995	.	.	.	701298	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.073	.	0.0075	0.00359425	0.0067	0.0013	0.0023	0	0.0086	0.0101	0.0066	0.0022	0.0066041	1021	154602	rs2839673	0.0080	0.0080	0.0082	0.0078	0.0090	0.0079	0.0078	0.0088	0.0087	0.0015	0.0029	0.0141	0	0.0093	0.0024	0.0090	0.0082	0.0025	0.0059	0.0059	0.0058	0.0060	0.0087	0.0056	0.0054	0.0082	0.0079	0.0016	0	0.0043	0.0118	0	0.0096	0.0034	0.0087	0.0081	0.0025	0.467	0.08559	T	1.0	0.01155	T	0.046	0.21875	B	0.014	0.16862	B	0.000003	0.62929	D	0.119241	1	0.81001	D	-0.55	0.02420	N	1.21	0.37230	T	0.29	0.04161	N	0.282	0.32037	-1.0817	0.07022	T	0.034	0.14421	T	10	0.0071927905	0.00164	T	.	.	.	0.073	0.21317	.	.	0.102598925029	0.09809	0.884749248604161	0.88442	0.519325346913	0.49757	0.613496363163	0.54809	T	0.244947	0.61416	T	-0.555905	0.00269	T	-0.564472	0.15961	T	0.0251972563727982	0.01298	T	0.916108	0.70062	D	0.31730086	0.54410	0.33986452	0.59746	0.31730086	0.54410	0.33986452	0.59745	-8.459	0.64157	D	.	.	0.097	0.20972	B	.;.;.	.;.;.	2.747327	0.36003	20.1	0.79017217796254569	0.12553	0.92564	0.56008	D	AEFBI	0.662828	0.63256	D	-0.161256440077824	0.34758	1.987812	0.0827844949828894	0.43681	2.66503	0.01991065545891	0.13207	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	5.21	5.21	0.72005	6.267000	0.72514	10.035000	0.83175	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.788	0.91927	655	0.62421	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	869.63	35	chr10	26224622	.	G	A	869.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.219;DP=269;ExcessHet=0;FS=1.745;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=-0.904;SOR=0.566	GT:AD:DP:GQ:PL	0/1:47,41:88:99:880,0,1033	6	0	1	0
chr10	27186516	27186516	G	A	exonic	MASTL	.	nonsynonymous SNV	MASTL:NM_001172304:exon11:c.G2503A:p.V835I,MASTL:NM_001172303:exon12:c.G2620A:p.V874I,MASTL:NM_032844:exon12:c.G2617A:p.V873I,MASTL:NM_001320756:exon13:c.G2632A:p.V878I,MASTL:NM_001320757:exon13:c.G2635A:p.V879I,MASTL:NM_001372030:exon13:c.G2137A:p.V713I,MASTL:NM_001372029:exon14:c.G2152A:p.V718I	.	0	1473	47	2	0	51	0.017017	.	.	.	712315	Thrombocytopenia_2|Thrombocytopenia|not_provided	MONDO:MONDO:0008555,MedGen:C1861185,OMIM:188000,Orphanet:268322|Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.078	0.00997056963759	0.0037	0.00139776	0.0044	0.0013	0.0016	0.0001	0.0002	0.0055	0.0077	0.0075	0.0040491	626	154602	rs138288481	0.0048	0.0048	0.0048	0.0049	0.0072	0.0047	0.0047	0.0067	0.0065	0.0012	0.0019	0.0121	2.52e-05	0.0002	0.0061	0.0050	0.0058	0.0072	0.0036	0.0036	0.0036	0.0035	0.0077	0.0033	0.0032	0.0057	0.0050	0.0011	0.0022	0.0033	0.0136	0	0.0004	0.0102	0.0051	0.0028	0.0077	0.203	0.20154	T	0.171	0.30339	T	0.011	0.20130	B	0.016	0.20792	B	0.000006	0.62929	N	0.106801	0.996275	0.45878	D	1.53	0.38800	L	-0.28	0.67543	T	-0.34	0.13805	N	0.061	0.08366	-0.9986	0.30311	T	0.126	0.43112	T	10	0.0049705505	0.00107	T	0.009971	0.25946	T	0.078	0.22779	.	.	0.371531589858	0.36766	0.1272268554561651	0.12648	0.0910169347132	0.10278	0.316755950451	0.12930	T	0.006687	0.06116	T	-0.498078	0.00586	T	-0.483104	0.24118	T	0.00412092111472847	0.00044	T	0.812919	0.48860	T	0.019913116	0.00533	0.0360601	0.02977	0.019913116	0.00532	0.0360601	0.02977	-5.82	0.52231	T	.	.	0.073	0.07697	B	.;.;.;.	.;.;.;.	1.094405	0.14780	11.32	0.95402752632936616	0.26857	0.91252	0.53159	D	AEFBI	0.103222	0.20687	N	-0.449366988897339	0.23761	1.278292	-0.341345716934986	0.26776	1.481296	0.146633193900005	0.17370	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.63	2.79	0.31792	2.239000	0.42728	0.193000	0.15765	0.656000	0.54149	0.995000	0.38783	0.001000	0.17328	0.935000	0.47363	0.2174:0.0:0.7826:0.0	10.103	0.41688	804	0.43891	.;AGC-kinase, C-terminal;.;AGC-kinase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.000000	0.009511	0.005848	0.000000	0.008621	0.006098	0.011364	0.07143	1542.44	97	chr10	27186516	.	G	A	1542.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.154;DP=353;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=0.055;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:58,0:58:99:.:.:0,120,1800:.	6	0	1	0
chr10	27204498	27204498	T	C	exonic	ACBD5	.	nonsynonymous SNV	ACBD5:NM_001301254:exon9:c.A976G:p.I326V,ACBD5:NM_001301252:exon10:c.A1180G:p.I394V,ACBD5:NM_001352587:exon10:c.A1297G:p.I433V,ACBD5:NM_001271512:exon11:c.A1501G:p.I501V,ACBD5:NM_001301251:exon11:c.A1180G:p.I394V,ACBD5:NM_001301253:exon11:c.A1180G:p.I394V,ACBD5:NM_001352582:exon11:c.A1198G:p.I400V,ACBD5:NM_001352583:exon11:c.A1180G:p.I394V,ACBD5:NM_001352584:exon11:c.A1180G:p.I394V,ACBD5:NM_001352586:exon11:c.A1330G:p.I444V,ACBD5:NM_001352588:exon11:c.A1303G:p.I435V,ACBD5:NM_001042473:exon12:c.A1402G:p.I468V,ACBD5:NM_001352570:exon12:c.A1507G:p.I503V,ACBD5:NM_001352571:exon12:c.A1534G:p.I512V,ACBD5:NM_001352572:exon12:c.A1528G:p.I510V,ACBD5:NM_001352577:exon12:c.A1402G:p.I468V,ACBD5:NM_001352578:exon12:c.A1402G:p.I468V,ACBD5:NM_001352579:exon12:c.A1402G:p.I468V,ACBD5:NM_001352580:exon12:c.A1348G:p.I450V,ACBD5:NM_001352581:exon12:c.A1336G:p.I446V,ACBD5:NM_001352585:exon12:c.A1213G:p.I405V,ACBD5:NM_145698:exon12:c.A1507G:p.I503V,ACBD5:NM_001352568:exon13:c.A1561G:p.I521V,ACBD5:NM_001352569:exon13:c.A1540G:p.I514V,ACBD5:NM_001352573:exon13:c.A1486G:p.I496V,ACBD5:NM_001352574:exon13:c.A1435G:p.I479V,ACBD5:NM_001352575:exon13:c.A1435G:p.I479V,ACBD5:NM_001352576:exon13:c.A1435G:p.I479V	.	.	.	.	.	.	.	.	.	.	.	1077011	ACBD5-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.011	0.00312484831803	.	.	0.0004	0	0.0045	0	0	0	0	0	0.0003363	52	154602	rs772621096	9.03e-05	9.029e-05	9.393e-05	8.663e-05	0.0029	7.756e-05	7.3e-05	0.0025	0.0023	0	0.0029	0	0	0	0	1.799e-06	3.312e-05	0	7.884e-05	7.88e-05	0.0001	4.034e-05	0.0008	4.496e-05	3.512e-05	0.0005	0.0004	0	0	0.0008	0	0	0	0	0	0	0	0.254	0.17701	T	0.395	0.15255	T	0.783	0.44368	P	0.205	0.37080	B	0.000305	0.45977	N	0.241877	0.570854	0.36749	D	2.06	0.56677	M	2.36	0.34253	T	-0.39	0.14193	N	0.284	0.32148	-1.0522	0.13790	T	0.061	0.25383	T	10	0.009190261	0.00208	T	0.003125	0.06786	T	0.011	0.01250	.	.	0.442775082573	0.43898	0.09757736381252521	0.09688	0.107368357967	0.12116	0.484681159258	0.36702	T	0.014771	0.12515	T	-0.531338	0.00377	T	-0.538112	0.18482	T	0.0452595222798661	0.04650	T	0.850515	0.54589	D	0.03167814	0.03051	0.048455138	0.07201	0.042955823	0.06609	0.042826634	0.05189	-4.152	0.32559	T	0.0921755191099624	0.05928	0.066	0.04198	B	.;.;.;.;.	.;.;.;.;.	1.301724	0.17036	12.92	0.82080041629631928	0.14008	0.36703	0.25594	N	AEFBI	0.108111	0.21518	N	-0.431662278019326	0.24366	1.315145	-0.372333690979298	0.25825	1.422623	0.00693316079243253	0.11345	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.71	2.04	0.25787	0.006000	0.13051	0.452000	0.18532	0.665000	0.62972	0.504000	0.26986	0.999000	0.35428	0.949000	0.49496	0.0:0.3326:0.0:0.6674	9.973	0.40939	784	0.47045	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1667	39.96	41	chr10	27204498	.	T	C	39.96	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.136;DP=330;ExcessHet=0.4139;FS=73.109;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.24;ReadPosRankSum=0.337;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,111,1289:.	4	0	2	1
chr10	29494967	29494967	G	C	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_003174:exon18:c.C2510G:p.S837W,SVIL:NM_001323600:exon19:c.C2606G:p.S869W,SVIL:NM_021738:exon20:c.C3788G:p.S1263W,SVIL:NM_001323599:exon21:c.C2858G:p.S953W	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.568	0.052456661987	.	.	0.0003	0.0004	0.0004	0.0006	0	0.0001	0	0.0005	3.84e-05	1	26028	rs149199305	0.0001	0.0002	0.0001	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	0.0002	0.0002	0	0.0003	1.872e-05	0.0009	9.264e-05	0.0003	0.0003	0.0003	0.0007	0.0003	0.0002	0.0015	0.0002	0.0002	0.0007	0.0005	0.0005	0	0.0002	0	0	0	0	0.0001	0	0.0015	0.001	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.54	0.74080	M	2.55	0.13916	T	-5.32	0.85541	D	0.706	0.88798	-0.6564	0.62434	T	0.202	0.55919	T	10	0.63816166	0.68901	D	0.052457	0.65077	D	0.568	0.82403	.	.	0.349806870941	0.34587	0.6217719145976628	0.62110	1.02942043651	0.75374	0.780887186527	0.79061	T	0.365312	0.73075	T	-0.149853	0.28335	T	-0.0698137	0.65639	T	0.155666078555088	0.17545	T	0.983202	0.94289	D	0.7757221	0.82392	0.7173749	0.83317	0.7757221	0.82394	0.7173749	0.83317	-11.19	0.85569	D	0.7224651345501137	0.80364	0.833	0.81099	P	.;.;.	.;.;.	5.023684	0.83509	28.1	0.99277297866616987	0.57765	0.99458	0.96281	D	AEFGBI	0.914421	0.87776	D	0.730624166646412	0.81639	7.569794	0.663160933409469	0.79592	7.11549	0.999999996474306	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.41	4.41	0.52588	9.746000	0.98073	9.971000	0.82862	0.499000	0.22661	1.000000	0.71638	1.000000	0.68203	0.820000	0.38637	0.0:0.0:1.0:0.0	17.236	0.86884	974	0.05496	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.07143	461.44	117	chr10	29494967	.	G	C	461.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.87;DP=586;ExcessHet=0;FS=0.956;MLEAC=1;MLEAF=0.071;MQ=57.19;MQRankSum=-0.571;QD=5.99;ReadPosRankSum=1.29;SOR=0.902	GT:AD:DP:GQ:PL	0/0:112,0:112:99:0,120,1800	6	0	1	0
chr10	29533429	29533429	T	C	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_021738:exon8:c.A938G:p.E313G	.	425	1032	62	3	0	68	0.0318949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	.	0.0021	0.00379393	0.0052	0.0006	0.0009	0.0002	0.0006	0.0030	0.0033	0.0248	0.0045795	708	154602	rs138539716	0.0035	0.0035	0.0027	0.0042	0.0249	0.0034	0.0034	0.0240	0.0237	0.0004	0.0008	0.0020	7.561e-05	0.0008	0.0168	0.0022	0.0037	0.0249	0.0023	0.0023	0.0020	0.0026	0.0261	0.0021	0.0020	0.0224	0.0210	0.0002	0	0.0018	0.0014	0	0.0002	0.0102	0.0026	0.0019	0.0261	0.0	0.91255	D	0.019	0.59159	D	0.999	0.77913	D	0.922	0.65739	D	0.000035	0.55875	D	0.120676	0.999815	0.81001	D	2.965	0.85198	M	0.83	0.47815	T	-2.76	0.58569	D	0.672	0.67995	-0.5825	0.65518	T	0.277	0.64845	T	9	0.006445855	0.00146	T	.	.	.	0.161	0.41658	.	.	0.29966067498	0.29572	0.32499134559339155	0.32412	0.941272911634	0.72213	0.544726490974	0.45114	T	0.114264	0.43194	T	-0.326568	0.06375	T	-0.222944	0.52452	T	0.0506692524194072	0.05618	T	0.909109	0.67839	D	0.4057002	0.61126	0.45622653	0.68392	0.38305208	0.59537	0.45176348	0.68105	-4.169	0.26519	T	.	.	0.523	0.65599	A	.;.	.;.	4.217554	0.63767	24.6	0.99928286144631806	0.99222	0.98525	0.83712	D	AEFBI	0.791987	0.72041	D	0.720763892831633	0.80992	7.419273	0.719964135676973	0.83897	8.143189	0.999999999870866	0.74766	0.740787	0.97801	0	0.573888	0.26702	0	0.767554	0.98243	0	0.635551	0.53088	0	.	.	5.85	5.85	0.93663	7.074000	0.76478	6.216000	0.55070	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.230	0.82154	968	0.07033	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.005051	0.009511	0.005848	0.000000	0.000000	0.012195	0.022727	0.07143	876.63	31	chr10	29533429	.	T	C	876.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.507;DP=242;ExcessHet=0;FS=0.926;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=2.71;SOR=0.495	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr10	35569102	35569102	G	A	exonic	CCNY	.	nonsynonymous SNV	CCNY:NM_001282854:exon8:c.G559A:p.A187T,CCNY:NM_001282852:exon9:c.G883A:p.A295T,CCNY:NM_145012:exon10:c.G958A:p.A320T,CCNY:NM_001282853:exon11:c.G796A:p.A266T,CCNY:NM_181698:exon12:c.G796A:p.A266T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	.	0.00479233	0.0013	0	8.685e-05	0.0168	0	4.526e-05	0.0011	0.0001	0.001216	188	154602	rs78190560	0.0011	0.0011	0.0010	0.0011	0.0357	0.0010	0.0010	0.0342	0.0336	5.975e-05	4.472e-05	0	0.0357	0	0.0003	6.295e-05	0.0005	0.0002	0.0008	0.0008	0.0005	0.0010	0.0209	0.0006	0.0006	0.0177	0.0165	7.212e-05	0	0	0	0.0209	0	0	5.879e-05	0	0	0.206	0.24758	T	0.161	0.33442	T	0.258	0.46254	B	0.059	0.41825	B	0.005264	0.32945	N	0.371673	0.998725	0.22461	N	1.72	0.44442	L	1.45	0.32722	T	-0.69	0.19720	N	0.028	0.01068	-1.0817	0.07022	T	0.012	0.04795	T	10	0.004594475	0.00096	T	.	.	.	0.056	0.15993	.	.	0.194818534648	0.19098	0.5153771639837983	0.51460	0.645119062426	0.57980	0.300428152084	0.10465	T	0.027268	0.20004	T	-0.667384	0.00057	T	-0.691951	0.06277	T	0.0180385879445632	0.00528	T	0.750125	0.37153	T	0.028486151	0.02194	0.048318833	0.07151	0.028486151	0.02194	0.048318833	0.07151	-5.048	0.37357	T	.	.	0.065	0.03336	B	.;.;.;.	.;.;.;.	0.555361	0.09238	6.022	0.91653850354111277	0.20942	0.57198	0.30314	D	AEFDBI	0.099680	0.20061	N	-0.88939552135162	0.11094	0.5335346	-0.919793795059598	0.11628	0.593522	0.999087449899115	0.38397	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.41	0.348	0.15264	1.041000	0.29901	0.252000	0.16440	-0.949000	0.02041	0.960000	0.33603	0.000000	0.08366	0.010000	0.09038	0.2989:0.0:0.3335:0.3676	2.746	0.04942	738	0.53389	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	636.46	33	chr10	35569102	.	G	A	636.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.03;DP=247;ExcessHet=0;FS=0.971;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=-1.155;SOR=0.527	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	6	0	1	0
chr10	38118296	38118296	C	T	exonic	ZNF37A	.	nonsynonymous SNV	ZNF37A:NM_001178101:exon7:c.C1145T:p.P382L,ZNF37A:NM_001324245:exon7:c.C1145T:p.P382L,ZNF37A:NM_001324248:exon7:c.C1145T:p.P382L,ZNF37A:NM_001324249:exon7:c.C1145T:p.P382L,ZNF37A:NM_003421:exon7:c.C1145T:p.P382L,ZNF37A:NM_001007094:exon8:c.C1145T:p.P382L,ZNF37A:NM_001324246:exon8:c.C1145T:p.P382L,ZNF37A:NM_001324247:exon8:c.C1145T:p.P382L,ZNF37A:NM_001324250:exon8:c.C1145T:p.P382L,ZNF37A:NM_001324251:exon8:c.C1145T:p.P382L	.	360	1159	3	0	0	3	0.00129255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.00825195143562	0.0002	.	0.0002	0	8.729e-05	0	0	0.0003	0	0	0.0001746	27	154602	rs144692082	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0002	0.0005	0.0003	2.987e-05	0.0001	0.0044	0	0	0.0010	9.533e-05	0.0004	1.159e-05	0.0001	0.0001	0.0001	0.0001	0.0001	8.178e-05	6.733e-05	7.911e-05	5.995e-05	0	0	0	0.0026	0	0	0	0.0001	0	0	0.089	0.32141	T	0.001	0.83351	D	0.999	0.77913	D	0.945	0.68163	D	.	.	.	.	0.999958	0.52396	D	1.885	0.50048	L	2.3	0.16953	T	-9.32	0.98325	D	0.334	0.41557	-1.0073	0.27758	T	0.096	0.36212	T	9	0.02379316	0.00633	T	0.008252	0.21853	T	0.179	0.44899	.	.	0.470566500458	0.46685	0.027418515205411643	0.02691	0.246365629491	0.27172	0.535627365112	0.43828	T	0.224974	0.58956	T	-0.332684	0.05910	T	-0.478986	0.24554	T	0.238298472264351	0.22341	T	0.814119	0.46793	T	0.23060979	0.45819	0.22447468	0.47361	0.23060979	0.45819	0.22447468	0.47360	-6.248	0.48309	T	.	.	0.595	0.68653	P	.;.	.;.	3.170401	0.42994	21.6	0.99767415732186149	0.85583	0.00118	0.00744	N	AEFDGBHCI	0.180764	0.30808	N	0.3574590975419	0.59135	4.090415	0.190067422369993	0.49300	3.135003	0.996698404426944	0.34934	0.719381	0.83141	0	0.723133	0.82719	0	0.602189	0.34648	0	0.674467	0.66132	0	.	.	1.6	1.6	0.22686	4.496000	0.60081	1.872000	0.29394	0.544000	0.25403	0.982000	0.35529	0.006000	0.19429	0.993000	0.69303	0.0:1.0:0.0:0.0	9.175	0.36266	568	0.70638	Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	539.49	55	chr10	38118296	.	C	T	539.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.164;DP=228;ExcessHet=0;FS=1.038;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=0.657;SOR=0.675	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1115	6	0	1	0
chr10	42820245	42820245	G	A	exonic	BMS1	.	nonsynonymous SNV	BMS1:NM_014753:exon16:c.G2590A:p.A864T	.	434	1062	24	2	0	28	0.0130112	.	.	.	3221913	BMS1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.080	.	.	0.0413339	0.0214	0.0005	0.0012	0.1068	0.0366	0.0036	0.0234	0.0699	0.0188031	2907	154602	rs117641896	0.0099	0.0099	0.0083	0.0115	0.1394	0.0097	0.0097	0.1363	0.1350	0.0002	0.0008	0.0041	0.1394	0.0317	0.0056	0.0008	0.0111	0.0644	0.0098	0.0099	0.0066	0.0132	0.1098	0.0094	0.0092	0.1023	0.0993	0.0003	0	0.0005	0.0032	0.1098	0.0323	0.0068	0.0021	0.0104	0.0806	0.153	0.24372	T	0.2	0.27591	T	0.452	0.36118	B	0.055	0.25995	B	0.000043	0.53742	D	0.122857	0.765727	0.29491	N	.	.	.	2.3	0.16953	T	-0.78	0.21644	N	0.234	0.26354	-1.1110	0.02985	T	0.000	0.00114	T	10	0.0021870434	0.00032	T	.	.	.	0.080	0.23350	.	.	.	.	0.3486463334772223	0.34778	0.245553725906	0.27076	0.558945655823	0.47119	T	0.006068	0.05507	T	-0.643963	0.00079	T	-0.553965	0.16947	T	0.0288878418279347	0.01820	T	0.750625	0.37241	T	0.059695754	0.12161	0.10918052	0.26309	0.059695754	0.12161	0.10918052	0.26308	-5.531	0.42157	T	.	.	0.094	0.14431	B	.	.	1.724231	0.21947	15.42	0.9888946252360642	0.47984	0.93020	0.57124	D	AEFBI	0.345743	0.44079	N	-0.0387931629623697	0.40105	2.37605	0.0539609993363731	0.42265	2.553303	0.400599700177465	0.20127	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.05	5.05	0.67566	4.047000	0.57095	.	.	-0.803000	0.03144	0.979000	0.35152	1.000000	0.68203	0.053000	0.15439	0.0765:0.0:0.9235:0.0	13.840	0.62931	867	0.32089	Ribosome biogenesis protein BMS1/TSR1, C-terminal|Ribosome biogenesis protein BMS1/TSR1, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016129	0.000000	0.005495	0.021930	0.000000	0.017241	0.011029	0.037815	0.07143	236.63	36	chr10	42820245	.	G	A	236.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.71;DP=208;ExcessHet=0;FS=1.685;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.76;ReadPosRankSum=-0.628;SOR=1.071	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1061	6	0	1	0
chr10	43206023	43206023	C	T	exonic	RASGEF1A	.	nonsynonymous SNV	RASGEF1A:NM_001282862:exon2:c.G118A:p.G40S,RASGEF1A:NM_145313:exon2:c.G94A:p.G32S	.	421	1075	1	0	25	26	0.0004649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0012	0.0355431	0.0223	0.0034	0.0008	0.1112	0.0296	0.0023	0.0198	0.0691	0.0154461	2388	154602	rs117610424	0.0082	0.0082	0.0068	0.0096	0.1059	0.0081	0.0080	0.1032	0.1021	0.0013	0.0005	0.0029	0.1059	0.0217	0.0057	0.0005	0.0106	0.0612	0.0086	0.0087	0.0062	0.0112	0.0964	0.0082	0.0081	0.0895	0.0867	0.0020	0	0.0012	0.0032	0.0964	0.0240	0.0034	0.0014	0.0061	0.0702	0.714	0.04032	T	0.728	0.05221	T	0.0	0.02946	B	0.0	0.01387	B	0.141388	0.02889	N	1.688360	1	0.08975	N	0	0.06538	N	-0.29	0.67712	T	0.34	0.03955	N	0.077	0.05162	-1.1060	0.03437	T	0.002	0.00526	T	10	0.0016499162	0.00020	T	.	.	.	0.038	0.09825	.	.	.	.	0.1659222229049595	0.16512	0.724846526864	0.62416	0.330052435398	0.14942	T	0.00418	0.03591	T	-0.626039	0.00101	T	-0.59456	0.13274	T	0.000216800669837077	0.00001	T	0.377862	0.09347	T	0.026439305	0.01702	0.038807113	0.03831	0.026439305	0.01702	0.038807113	0.03830	-4.742	0.34916	T	.	.	0.084	0.09675	B	.;.;.	.;.;.	-0.177307	0.03209	0.533	0.54145436056785945	0.05079	0.07866	0.13857	N	AEFBI	0.068383	0.13486	N	-1.7530624372783	0.00670	0.0289256	-1.79795619577989	0.00766	0.03414931	0.999932391636118	0.46732	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.68	-6.04	0.01995	-0.579000	0.05927	-5.905000	0.01557	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1782:0.1384:0.6834	7.288	0.25522	851	0.35303	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008081	0.005051	0.000000	0.008824	0.000000	0.017241	0.000000	0.026515	0.1667	2707.92	35	chr10	43206023	.	C	T	2707.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.252;DP=271;ExcessHet=0.4139;FS=0.662;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=21.16;ReadPosRankSum=-0.145;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	4	0	2	1
chr10	43481879	43481879	C	T	exonic	ZNF487	.	nonsynonymous SNV	ZNF487:NM_001355447:exon3:c.C593T:p.A198V,ZNF487:NM_001355449:exon3:c.C488T:p.A163V,ZNF487:NM_001355450:exon3:c.C488T:p.A163V,ZNF487:NM_001355444:exon4:c.C581T:p.A194V,ZNF487:NM_001355445:exon4:c.C581T:p.A194V,ZNF487:NM_001355448:exon4:c.C689T:p.A230V,ZNF487:NM_001355446:exon5:c.C581T:p.A194V	.	426	1085	10	1	0	12	0.00549954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	.	0.00579073	0.0046	0.0298	0	0	0	0.0155	0	0.0004	0.0007503	116	154602	rs58052353	0.0021	0.0018	0.0023	0.0019	0.0186	0.0020	0.0019	0.0168	0.0161	0.0186	0.0026	0.0155	0	0	0.0150	0.0007	0.0043	0.0007	0.0061	0.0061	0.0067	0.0056	0.0178	0.0058	0.0057	0.0167	0.0163	0.0178	0.0011	0.0031	0.0184	0	0	0.0034	0.0010	0.0061	0.0002	1.0	0.00964	T	0.412	0.14456	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.6	0.28604	T	0.02	0.06739	N	0.039	0.01274	-1.0152	0.25272	T	0.016	0.06521	T	8	0.004594177	0.00096	T	.	.	.	0.010	0.01040	.	.	0.0138822411134	0.00435	.	.	0.433654064726	0.43517	0.249059259892	0.03669	T	.	.	.	-0.754559	0.00016	T	-0.839729	0.01102	T	0.00503663952893146	0.00054	T	0.305869	0.05863	T	.	.	.	.	.	.	.	.	-4.328	0.28568	T	.	.	.	.	.	.	.	-0.543977	0.01731	0.129	0.62815139690335819	0.07060	0.00032	0.00291	N	AEFBCI	0.030014	0.02939	N	-1.13329996473263	0.06059	0.2779165	-1.2997340404127	0.04435	0.2091714	5.61357773065305E-4	0.07335	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	1.71	-0.457	0.11578	-2.121000	0.01409	-15.256000	0.00365	-0.406000	0.05278	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2536:0.3564:0.0:0.3899	2.052	0.03355	842	0.36989	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	713.49	34	chr10	43481879	.	C	T	713.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.684;DP=254;ExcessHet=0;FS=3.019;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=-1.221;SOR=1.058	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1125	6	0	1	0
chr10	45750790	45750790	G	A	exonic	WASHC2C	.	nonsynonymous SNV	WASHC2C:NM_001367404:exon8:c.G724A:p.A242T,WASHC2C:NM_001169106:exon10:c.G883A:p.A295T,WASHC2C:NM_001169107:exon10:c.G883A:p.A295T,WASHC2C:NM_001330074:exon10:c.G883A:p.A295T,WASHC2C:NM_001367393:exon10:c.G877A:p.A293T,WASHC2C:NM_001367394:exon10:c.G883A:p.A295T,WASHC2C:NM_001367395:exon10:c.G883A:p.A295T,WASHC2C:NM_001367396:exon10:c.G883A:p.A295T,WASHC2C:NM_001367397:exon10:c.G883A:p.A295T,WASHC2C:NM_001367399:exon10:c.G619A:p.A207T,WASHC2C:NM_001367400:exon10:c.G883A:p.A295T,WASHC2C:NM_001367401:exon10:c.G883A:p.A295T,WASHC2C:NM_001367403:exon10:c.G883A:p.A295T,WASHC2C:NM_001367408:exon10:c.G883A:p.A295T,WASHC2C:NM_001367409:exon10:c.G622A:p.A208T,WASHC2C:NM_001367410:exon10:c.G619A:p.A207T,WASHC2C:NM_001367411:exon10:c.G622A:p.A208T,WASHC2C:NM_001367413:exon10:c.G622A:p.A208T,WASHC2C:NM_001367415:exon10:c.G883A:p.A295T,WASHC2C:NM_001367416:exon10:c.G883A:p.A295T,WASHC2C:NM_015262:exon10:c.G883A:p.A295T,WASHC2C:NM_001367398:exon11:c.G304A:p.A102T,WASHC2C:NM_001367402:exon11:c.G304A:p.A102T,WASHC2C:NM_001367405:exon11:c.G304A:p.A102T,WASHC2C:NM_001367412:exon11:c.G304A:p.A102T,WASHC2C:NM_001367414:exon11:c.G304A:p.A102T,WASHC2C:NM_001367407:exon12:c.G304A:p.A102T	.	.	.	.	.	.	.	.	.	.	.	2813118	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.513	.	0.0054	0.000599042	0.0067	0.0020	0	0	0	0.0138	0.0158	0.0008	0.0020957	324	154602	rs201469599	0.0080	0.0078	0.0081	0.0079	0.0090	0.0079	0.0078	0.0089	0.0088	0.0010	0.0050	0.0233	0	0.0024	0.0044	0.0090	0.0081	0.0007	0.0063	0.0063	0.0068	0.0059	0.0090	0.0060	0.0059	0.0084	0.0082	0.0016	0.0406	0.0078	0.0262	0	0.0018	0.0068	0.0090	0.0062	0	0.003	0.72154	D	0.103	0.64786	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999977	0.58761	D	.	.	.	.	.	.	-3.07	0.68532	D	0.611	0.71410	-0.1404	0.79155	T	0.357	0.71990	T	9	0.009589434	0.00216	T	.	.	.	0.513	0.79156	.	.	0.130388298395	0.12655	0.1962043558718438	0.19537	.	.	0.530121564865	0.43051	T	0.316132	0.68769	T	-0.281439	0.10517	T	-0.170221	0.57423	T	0.0123708766637559	0.00202	T	0.974003	0.91859	D	0.45980605	0.64659	0.54810864	0.73875	0.45980605	0.64659	0.54810864	0.73876	-10.169	0.75418	D	.	.	0.287	0.52598	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.458819	0.69381	25.4	0.99911841541122759	0.98095	0.97001	0.72119	D	AEFDI	0.389477	0.46868	N	0.59709362682998	0.72992	5.893946	0.457069238267977	0.65172	4.790378	0.0142693496000148	0.12574	0.706548	0.73137	0	0.643519	0.57511	0	0.786243	0.99158	0	0.714379	0.83352	0	.	.	3.75	3.75	0.42236	7.264000	0.77831	9.924000	0.82528	0.473000	0.21965	1.000000	0.71638	1.000000	0.68203	0.331000	0.25224	0.0:0.0:1.0:0.0	13.428	0.60486	770	0.49152	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004348	0.000000	0.004412	0.000000	0.000000	0.000000	0.011628	0.000000	0.08333	80.3	10	chr10	45750790	.	G	A	80.3	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.03;DP=75;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=54.07;MQRankSum=-0.21;QD=8.03;ReadPosRankSum=0.096;SOR=0.307	GT:AD:DP:GQ:PL	0/0:25,0:25:72:0,72,704	5	0	1	1
chr10	45828081	45828081	C	G	splicing	AGAP4	NM_001291379:exon9:c.210-1G>C;NM_001276343:exon7:c.534-1G>C;NM_133446:exon6:c.465-1G>C	.	.	.	705	795	11	11	0	33	0.0203327	1.0000	0.672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259220018	0.0090	0.0077	0.0082	0.0097	0.0262	0.0088	0.0087	0.0205	0.0186	0.0012	0.0068	0.0048	9.438e-05	0.0119	0.0262	0.0086	0.0075	0.0201	0.0062	0.0065	0.0062	0.0061	0.0121	0.0058	0.0057	0.0095	0.0086	0.0011	0.0146	0.0075	0.0042	0.0004	0.0112	0.0360	0.0081	0.0073	0.0121	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0721765	0.40978	T	-0.341453	0.40179	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.993006	0.94285	34	0.85737994814547802	0.16081	0.86269	0.45516	D	AEFI	.	.	.	0.551673247133502	0.70185	5.464414	0.239839142706968	0.52072	3.384739	4.27802207330989E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.063197	0.01477	0	0.101684	0.03063	0	0.185915	0.29733	1.68	1.68	0.23219	3.803000	0.55264	5.199000	0.47926	0.270000	0.18506	1.000000	0.71638	1.000000	0.68203	0.087000	0.17632	0.0:1.0:0.0:0.0	6.854	0.23214	751	0.51694	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	161.4	10	chr10	45828081	.	C	G	161.4	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.454;DP=91;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=32.38;MQRankSum=0.742;QD=16.14;ReadPosRankSum=-1.001;SOR=0.223	GT:AD:DP:GQ:PL	0/0:20,0:20:57:0,57,855	5	0	1	1
chr10	45847137	45847137	C	-	exonic	AGAP4	.	frameshift deletion	AGAP4:NM_001276343:exon1:c.211delG:p.E71Rfs*52,AGAP4:NM_133446:exon1:c.211delG:p.E71Rfs*29	.	401	1077	44	0	0	44	0.0200182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1333205919	3.891e-05	0.0028	3.044e-05	4.746e-05	0.0006	3.073e-05	2.762e-05	0.0002	8.801e-05	9.088e-05	0	0	0	0.0005	0.0006	2.082e-05	1.67e-05	6.989e-05	4.029e-05	0.0010	3.927e-05	4.136e-05	7.471e-05	1.746e-05	1.15e-05	1.981e-05	1.049e-05	7.471e-05	0	0	0	0	0.0003	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	464.59	20	chr10	45847136	.	TC	T	464.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.731;DP=206;ExcessHet=0;FS=3.648;MLEAC=1;MLEAF=0.071;MQ=38.25;MQRankSum=-1.741;QD=9.11;ReadPosRankSum=1.39;SOR=0.208	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,102,1530:.	6	0	1	0
chr10	46580201	46580203	GCT	-	exonic	SYT15	.	nonframeshift deletion	SYT15:NM_031912:exon2:c.45_47del:p.L21del,SYT15:NM_181519:exon2:c.45_47del:p.L21del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs368995487	0.0006	0.0030	0.0006	0.0006	0.0008	0.0006	0.0006	0.0006	0.0006	0.0005	0.0005	0.0007	0.0002	0.0007	0.0007	0.0006	0.0006	0.0008	7.767e-06	2.06e-05	0	1.606e-05	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	82.6	8	chr10	46580200	.	GGCT	G	82.6	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.098;DP=123;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=35.84;MQRankSum=-1.29;QD=5.9;ReadPosRankSum=-0.156;SOR=1.093	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1163	6	0	1	0
chr10	47312688	47312688	C	A	exonic	GDF10	.	nonsynonymous SNV	GDF10:NM_004962:exon3:c.C1333A:p.P445T	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.904	0.049871565864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.858e-06	8.209e-06	6.822e-06	6.894e-06	0.0002	3.47e-06	2.53e-06	3.018e-05	2.053e-05	0	0	0	0	0	0.0002	0	4.977e-05	7.02e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.77	0.83660	D	.	.	.	0.878	0.87590	.	.	.	.	.	.	.	0.93202055	0.92538	D	.	.	.	.	.	.	.	.	.	0.9986849763770298	0.99867	.	.	.	.	.	0.970565	0.99676	D	.	.	.	.	.	.	.	.	.	0.963004	0.86214	D	.	.	.	.	.	.	.	.	-13.132	0.89899	D	.	.	0.961	0.88157	P	.	.	4.972131	0.82291	27.8	.	.	.	.	.	.	0.948863	0.96092	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.480000	0.80148	7.645000	0.63394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	.	.	.	976	0.04745	Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	3931.23	34	chr10	47312688	.	C	A	3931.23	.	AC=2;AF=0.143;AN=14;DP=320;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=29.56;SOR=0.941	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	1	0	0
chr10	47502401	47502401	A	T	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon8:c.T1728A:p.F576L	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1247418370	0.0002	0.0002	8.451e-05	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	0	0	0	0	0	0.0018	1.169e-05	9.963e-05	0.0025	5.981e-05	5.912e-05	5.19e-05	6.812e-05	0.0017	3.109e-05	2.233e-05	0.0008	0.0006	0	0	0	0	0	0	0.0034	0	0	0.0017	0.001	0.78490	D	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	0.49358	T	-5.21	0.83763	D	0.557	0.58202	.	.	.	.	.	.	.	0.59294754	0.66483	D	.	.	.	.	.	.	.	0.363944505237	0.36005	0.06192461003115752	0.06132	.	.	.	.	.	.	.	.	0.128352	0.67200	D	-0.0534071	0.66789	D	.	.	.	0.987451	0.95727	D	.	.	.	.	.	.	.	.	-7.849	0.60036	D	.	.	0.939	0.85814	P	.	.	2.100398	0.26722	17.22	0.27390082919576153	0.01357	0.28680	0.23620	N	AEFI	.	.	.	.	.	.	.	.	.	1.16106452124722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.101684	0.03063	0	0.0902175	0.20419	0.109	-0.218	0.12495	1.449000	0.34734	1.505000	0.26983	0.179000	0.17797	1.000000	0.71638	1.000000	0.68203	0.055000	0.15596	0.6741:0.0:0.3259:0.0	4.015	0.09128	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	4852.27	34	chr10	47502401	.	A	T	4852.27	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.4;DP=367;ExcessHet=0;FS=3.031;MLEAC=2;MLEAF=0.143;MQ=54.89;MQRankSum=2.59;QD=29.59;ReadPosRankSum=2.04;SOR=0.116	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	6	1	0	0
chr10	47502604	47502604	A	C	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon8:c.T1525G:p.F509V	.	422	728	305	64	3	436	0.229222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs4013543	0.0002	0.0002	9.315e-05	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	6.281e-05	0	0	5.406e-05	0	0.0017	1.489e-05	0.0001	0.0026	0.0001	0.0001	0.0001	0.0001	0.0022	6.348e-05	5.056e-05	0.0011	0.0008	3.155e-05	0	0	0	0	0	0.0046	1.789e-05	0.0013	0.0022	0.001	0.78490	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.97	0.42502	T	0.47	0.03090	N	0.186	0.20262	.	.	.	.	.	.	.	0.10073686	0.18362	T	.	.	.	.	.	.	.	.	.	0.03142456421492586	0.03091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.947505	0.79737	D	.	.	.	.	.	.	.	.	-4.062	0.24728	T	.	.	0.137	0.29995	B	.	.	2.201820	0.28079	17.68	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.104000	0.57524	2.605000	0.33544	-1.214000	0.01347	1.000000	0.71638	0.940000	0.28757	0.002000	0.04165	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	6225.09	34	chr10	47502604	.	A	C	6225.09	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.18;DP=391;ExcessHet=0;FS=6.327;MLEAC=2;MLEAF=0.143;MQ=38.36;MQRankSum=-5.704;QD=22.72;ReadPosRankSum=-0.87;SOR=1.012	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	6	1	0	0
chr10	48180933	48180933	C	T	exonic	FRMPD2	.	nonsynonymous SNV	FRMPD2:NM_001318191:exon19:c.G2585A:p.S862N,FRMPD2:NM_001018071:exon21:c.G2660A:p.S887N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0224193433728	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1309661030	7.678e-06	4.229e-06	5.468e-06	9.623e-06	0.0001	2.76e-06	1.81e-06	3.911e-05	2.055e-05	0.0001	0	0	0	0	0	0	0	4.181e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.109	0.37449	T	0.454	0.42542	P	0.079	0.40924	B	.	.	.	.	0.999988	0.18198	N	0.625	0.15840	N	-0.01	0.63568	T	-1.63	0.39119	N	0.057	0.02861	-1.0252	0.22017	T	0.109	0.39439	T	9	0.101522714	0.18553	T	0.022419	0.45307	T	0.063	0.18251	0.3	0.26683	0.343334270461	0.33943	0.15798242281686345	0.15719	0.0318931343396	0.03313	0.283751487732	0.08021	T	0.017399	0.14204	T	-0.470606	0.00843	T	-0.634334	0.10087	T	0.0397026220339581	0.03637	T	0.576042	0.20701	T	0.07822575	0.17800	0.08540104	0.19714	0.07822575	0.17800	0.08540104	0.19714	-4.647	0.32818	T	.	.	0.091	0.16800	B	.;.;.	.;.;.	0.813568	0.11844	8.414	0.9363348244070322	0.23508	0.06910	0.12935	N	AEFI	0.059649	0.11282	N	-0.823734067224378	0.12704	0.6210146	-0.890933679760294	0.12307	0.6323684	3.02289868968414E-4	0.06454	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.13	-0.426	0.11700	0.292000	0.18766	0.031000	0.13732	-0.206000	0.08541	0.226000	0.24601	0.000000	0.08366	0.039000	0.14166	0.1431:0.4722:0.1393:0.2453	1.721	0.02737	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	675.42	28	chr10	48180933	.	C	T	675.42	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.108;DP=162;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=30;MQRankSum=0.482;QD=25.98;ReadPosRankSum=-1.201;SOR=0.33	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1204	6	1	0	0
chr10	48459790	48459790	C	G	exonic	ARHGAP22	.	nonsynonymous SNV	ARHGAP22:NM_001256026:exon3:c.G283C:p.E95Q,ARHGAP22:NM_001347735:exon4:c.G424C:p.E142Q,ARHGAP22:NM_001256024:exon5:c.G601C:p.E201Q,ARHGAP22:NM_001256025:exon5:c.G571C:p.E191Q,ARHGAP22:NM_021226:exon5:c.G553C:p.E185Q,ARHGAP22:NM_001347738:exon6:c.G571C:p.E191Q	.	427	1086	9	0	0	9	0.00412655	.	.	.	752111	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.142	0.00842980633544	0.0006	0.000998403	0.0015	9.639e-05	0.0003	0	0	0.0010	0	0.0062	0.0012678	196	154602	rs141575110	0.0009	0.0009	0.0007	0.0011	0.0060	0.0009	0.0008	0.0056	0.0054	8.961e-05	0.0003	0.0107	2.519e-05	0	0.0009	0.0004	0.0013	0.0060	0.0007	0.0007	0.0006	0.0009	0.0066	0.0006	0.0006	0.0048	0.0042	7.214e-05	0	0.0004	0.0110	0	0	0.0102	0.0004	0.0024	0.0066	0.411	0.28646	T	0.324	0.19480	T	0.592	0.73220	P	0.349	0.67262	B	0.000001	0.62929	D	0.056233	1	0.81001	D	1.435	0.35949	L	2.2	0.18570	T	-1.73	0.41046	N	0.285	0.32591	-1.1231	0.02144	T	0.084	0.32986	T	10	0.0058410764	0.00130	T	0.00843	0.22307	T	0.142	0.37995	.	.	0.238705975628	0.23479	0.45996758904412854	0.45914	0.351601627077	0.36998	0.567807674408	0.48367	T	0.056836	0.30398	T	-0.439707	0.01298	T	-0.402604	0.33081	T	0.0490215323719967	0.05328	T	0.878312	0.59309	D	0.3977095	0.60573	0.15204486	0.35789	0.3977095	0.60574	0.15204486	0.35789	-3.51	0.16572	T	.	.	0.078	0.28835	B	.;.;.;.;.;.	.;.;.;.;.;.	3.560714	0.50099	22.9	0.99586095798452834	0.73336	0.89500	0.50004	D	AEFDBHCIJ	0.709495	0.66356	D	0.105659509635348	0.46726	2.908665	0.195989930216317	0.49625	3.163599	1.0	0.98316	0.743674	0.98306	0	0.615948	0.52940	0	0.659943	0.59835	0	0.584449	0.35598	0	.	.	4.9	4.9	0.63643	2.008000	0.40513	5.846000	0.50293	0.549000	0.26987	0.962000	0.33725	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	17.242	0.86899	940	0.13648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.;.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.005051	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.07143	406.49	40	chr10	48459790	.	C	G	406.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.165;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=-0.77;SOR=0.848	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1132	6	0	1	0
chr10	49132145	49132145	C	T	exonic	FAM170B	.	nonsynonymous SNV	FAM170B:NM_001164484:exon2:c.G320A:p.C107Y	.	434	1014	71	3	0	77	0.0365796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	0.0059	0.0325479	0.0536	0.0125	0.0049	0.0033	0	0.0094	0.0309	0.1208	0.0091331	1412	154602	rs41280539	0.0098	0.0094	0.0066	0.0130	0.1154	0.0096	0.0096	0.1134	0.1126	0.0159	0.0063	0.0220	0.0037	0	0.0479	0.0019	0.0137	0.1154	0.0099	0.0099	0.0080	0.0118	0.1161	0.0094	0.0093	0.1082	0.1050	0.0128	0.0329	0.0054	0.0271	0.0015	9.411e-05	0.0238	0.0023	0.0132	0.1161	0.117	0.28271	T	0.183	0.29153	T	0.627	0.40110	P	0.255	0.39216	B	0.070243	0.21551	N	0.438857	1	0.08975	N	1.89	0.50145	L	0.99	0.41750	T	-1.48	0.36189	N	0.078	0.05287	-1.0581	0.12235	T	0.050	0.21456	T	10	0.0017475188	0.00022	T	.	.	.	0.056	0.15993	.	.	.	.	0.36407451914370714	0.36321	.	.	0.465958029032	0.34127	T	0.011081	0.09929	T	-0.607948	0.00130	T	-0.549335	0.17389	T	0.00768038339090971	0.00089	T	0.523848	0.17156	T	0.07181237	0.15928	0.122336216	0.29510	0.07181237	0.15927	0.122336216	0.29509	-3.745	0.19985	T	.	.	0.210	0.43707	B	.	.	1.883759	0.23925	16.20	0.83146344675201278	0.14567	0.04853	0.10588	N	AEFDBCI	0.045601	0.07476	N	-0.557464624572793	0.20250	1.066141	-0.675040824452409	0.17586	0.9357502	0.99684125480696	0.35056	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.12	0.695	0.17231	0.530000	0.22742	0.576000	0.19656	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.327000	0.25133	0.1854:0.4277:0.1803:0.2066	1.061	0.01500	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.046078	0.069149	0.032787	0.079832	0.000000	0.023810	0.015957	0.000000	0.1429	3013.23	43	chr10	49132145	.	C	T	3013.23	.	AC=2;AF=0.143;AN=14;DP=376;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.13;SOR=0.775	GT:AD:DP:GQ:PL	0/0:93,0:93:99:0,120,1800	6	1	0	0
chr10	49612016	49612016	A	G	exonic	SLC18A3	.	nonsynonymous SNV	SLC18A3:NM_003055:exon1:c.A1276G:p.I426V	Myasthenic syndrome, congenital, 21, presynaptic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	737509	not_provided|SLC18A3-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.418	0.0154850367642	0.0002	0.00139776	0.0006	9.781e-05	8.706e-05	0.0066	0	9.122e-05	0	0.0006	0.0005369	83	154602	rs118107581	0.0005	0.0005	0.0005	0.0005	0.0140	0.0005	0.0004	0.0130	0.0126	5.974e-05	0.0001	0	0.0140	0	0.0003	5.846e-05	0.0003	0.0007	0.0003	0.0003	0.0002	0.0003	0.0052	0.0002	0.0002	0.0037	0.0032	0.0002	0	0.0001	0	0.0052	0	0	5.881e-05	0.0005	0.0004	0.38	0.11191	T	0.779	0.04344	T	0.977	0.58535	D	0.773	0.56974	P	0.000003	0.62929	U	0.059041	1	0.81001	D	0.58	0.15352	N	-1.39	0.80387	T	-0.88	0.23808	N	0.304	0.34336	-0.4506	0.70380	T	0.316	0.68549	T	10	0.013012946	0.00277	T	0.015485	0.36250	T	0.418	0.72780	.	.	0.708386449469	0.70584	0.1755959752554341	0.17478	.	.	0.818039059639	0.84727	D	0.220522	0.58383	T	-0.323961	0.06578	T	-0.235789	0.51209	T	0.0822728689954696	0.10276	T	0.889211	0.62120	D	0.1075223	0.25424	0.121147536	0.29233	0.1075223	0.25423	0.121147536	0.29232	-2.874	0.08886	T	0.2757724791787665	0.37023	0.190	0.40873	B	.	.	4.642279	0.73915	26.1	0.982130852565681	0.39228	0.96335	0.68636	D	AEFDGBCI	0.871742	0.79328	D	0.389166261111909	0.60836	4.276887	0.427257964528688	0.63268	4.557327	0.999994218134128	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	5.11	3.98	0.45383	7.477000	0.80071	9.324000	0.80071	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.9218:0.0:0.0782:0.0	10.223	0.42386	602	0.67834	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.003788	0.07143	930.44	39	chr10	49612016	.	A	G	930.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.341;DP=309;ExcessHet=0;FS=0.741;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=-3.432;SOR=0.569	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,116,1331	6	0	1	0
chr10	49933321	49933321	C	T	exonic	PARG	.	nonsynonymous SNV	PARG:NM_001303487:exon2:c.G803A:p.R268H,PARG:NM_001303486:exon3:c.G881A:p.R294H,PARG:NM_001324381:exon3:c.G881A:p.R294H,PARG:NM_003631:exon3:c.G1127A:p.R376H	.	432	941	149	0	0	149	0.0733629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1243634145	3.406e-05	0.0007	3.32e-05	3.492e-05	0.0003	2.607e-05	2.349e-05	0.0002	0.0001	0.0003	0.0001	0	7.62e-05	3.887e-05	0	2.099e-05	1.678e-05	3.522e-05	0.0006	0.0061	0.0005	0.0007	0.0016	0.0005	0.0004	0.0013	0.0012	0.0016	0	0.0006	0	0	0.0003	0	0.0001	0.0010	0.0002	.	.	.	0.257	0.23231	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.02462	.	.	.	.	.	.	.	0.073026	0.10979	T	.	.	.	.	.	.	.	.	.	0.1798985972631501	0.17908	.	.	.	.	.	0.052451	0.29163	T	.	.	.	.	.	.	.	.	.	0.510149	0.16261	T	.	.	.	.	.	.	.	.	-4.524	0.31201	T	.	.	0.065	0.02038	B	.;.	.;.	0.608126	0.09765	6.533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518000	0.22554	-2.025000	0.04327	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.570000	0.30651	.	.	.	861	0.33516	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	147.52	35	chr10	49933321	.	C	T	147.52	.	AC=1;AF=0.071;AN=14;BaseQRankSum=5.53;DP=640;ExcessHet=0;FS=48.559;MLEAC=1;MLEAF=0.071;MQ=52.41;MQRankSum=-8.196;QD=0.68;ReadPosRankSum=-0.391;SOR=7.637	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1129	6	0	1	0
chr10	50104141	50104141	G	A	exonic	WASHC2A	.	nonsynonymous SNV	WASHC2A:NM_001005751:exon18:c.G1735A:p.E579K,WASHC2A:NM_001291398:exon18:c.G1735A:p.E579K,WASHC2A:NM_001330102:exon18:c.G1735A:p.E579K	.	.	.	.	.	.	.	.	0.0002	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.00806134122702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.019	0.59159	D	0.979	0.65571	D	0.547	0.62173	P	0.000196	0.48115	D	0.177367	0.999951	0.52396	D	.	.	.	.	.	.	-2.9	0.62343	D	0.284	0.38129	-0.5916	0.65157	T	0.295	0.66640	T	9	0.13366267	0.25440	T	0.008061	0.21368	T	0.136	0.36778	0.283	0.23961	0.043077524339	0.03247	0.08302946398203838	0.08237	.	.	0.596591353416	0.52423	T	0.224715	0.58924	T	0.031738	0.55955	T	-0.192187	0.55385	T	0.935279011726379	0.60337	D	0.80302	0.47137	T	0.33316985	0.55729	0.3041158	0.56441	0.33316985	0.55729	0.3041158	0.56440	-10.594	0.77386	D	.	.	0.244	0.48071	B	.;.;.;.;.	.;.;.;.;.	4.818866	0.78469	26.9	0.99814579360661781	0.89797	0.80605	0.40199	D	AEFI	0.261847	0.37971	N	0.0540664108470331	0.44330	2.709031	-0.0580937172112838	0.37142	2.170761	3.20204501784103E-6	0.01202	0.706548	0.73137	0	0.659464	0.62310	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	3.2	2.25	0.27340	3.458000	0.52778	9.527000	0.80942	-0.373000	0.05434	1.000000	0.71638	1.000000	0.68203	0.901000	0.43729	0.0:0.2451:0.7549:0.0	8.354	0.31482	749	0.51929	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	329.65	20	chr10	50104141	.	G	A	329.65	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.299;DP=245;ExcessHet=0.3476;FS=168.129;MLEAC=1;MLEAF=0.1;MQ=57.71;MQRankSum=-0.83;QD=2.23;ReadPosRankSum=1.06;SOR=7.475	GT:AD:DP:GQ:PL	./.:29,0:29:0:0,0,495	4	0	1	2
chr10	53806959	53806959	G	A	exonic	PCDH15	.	nonsynonymous SNV	PCDH15:NM_001354420:exon34:c.C4648T:p.R1550C,PCDH15:NM_001354429:exon37:c.C4777T:p.R1593C,PCDH15:NM_001384140:exon38:c.C4843T:p.R1615C	Deafness, autosomal recessive 23, Autosomal recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive;Usher syndrome, type 1F, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	.	4007805	Autosomal_recessive_nonsyndromic_hearing_loss_23|Usher_syndrome_type_1D|Usher_syndrome_type_1F	MONDO:MONDO:0012293,MedGen:C1836027,OMIM:609533,Orphanet:90636|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011186,MedGen:C1865885,OMIM:602083,Orphanet:231169,Orphanet:886	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.253	0.00606562582175	.	0.000199681	1.665e-05	0	0	0	0	1.509e-05	0	6.057e-05	1.29e-05	2	154602	rs570828018	1.163e-05	1.163e-05	1.361e-05	9.627e-06	2.319e-05	7.09e-06	5.79e-06	6.52e-06	5.03e-06	0	2.236e-05	0	0	0	0	1.169e-05	1.656e-05	2.319e-05	1.314e-05	1.312e-05	2.572e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.552e-05	0	0	0	0	0	0	0.0002	.	.	.	0.005	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.81711	0.34722	D	.	.	.	.	.	.	.	.	.	0.55	0.84922	-0.1559	0.78771	T	0.435	0.77523	T	9	0.32615846	0.49917	T	0.006066	0.15846	T	0.253	0.56294	0.422	0.46529	0.478905595755	0.47518	.	.	.	.	.	.	.	0.051741	0.29924	T	-0.116632	0.33675	T	-0.223782	0.52371	T	0.81679493188858	0.47536	D	0.944006	0.78847	D	.	.	.	.	.	.	.	.	-6.336	0.49007	T	.	.	0.373	0.61700	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.346220	0.66720	25.0	0.99841717576915789	0.92229	0.92721	0.56383	D	AEFGI	0.744662	0.68758	D	0.735731330709004	0.81976	7.649409	0.736585793741386	0.85151	8.49608	7.66553864448293E-4	0.07776	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	3.734000	0.54760	8.669000	0.78002	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8542:0.1458	14.621	0.68184	968	0.07033	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	144.44	34	chr10	53806959	.	G	A	144.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.15;DP=219;ExcessHet=0;FS=3.332;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.05;ReadPosRankSum=-2.369;SOR=1.901	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1237	6	0	1	0
chr10	53822328	53822328	C	T	exonic	PCDH15	.	nonsynonymous SNV	PCDH15:NM_001142767:exon31:c.G5278A:p.V1760I,PCDH15:NM_001142765:exon32:c.G5191A:p.V1731I,PCDH15:NM_001142766:exon32:c.G5389A:p.V1797I,PCDH15:NM_001142773:exon32:c.G5329A:p.V1777I,PCDH15:NM_001142768:exon33:c.G5338A:p.V1780I,PCDH15:NM_033056:exon33:c.G5398A:p.V1800I,PCDH15:NM_001142764:exon34:c.G5404A:p.V1802I,PCDH15:NM_001142763:exon35:c.G5419A:p.V1807I,PCDH15:NM_001354404:exon35:c.G5332A:p.V1778I	Deafness, autosomal recessive 23, Autosomal recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive;Usher syndrome, type 1F, Autosomal recessive	16	1487	18	1	0	20	0.00668003	.	.	.	55664	PCDH15-related_disorder|Usher_syndrome_type_1|Usher_syndrome_type_1F|not_provided|Usher_syndrome_type_1D|Autosomal_recessive_nonsyndromic_hearing_loss_23|not_specified	.|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011186,MedGen:C1865885,OMIM:602083,Orphanet:231169,Orphanet:886|MedGen:C3661900|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MONDO:MONDO:0012293,MedGen:C1836027,OMIM:609533,Orphanet:90636|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.007	0.00365243390985	0.0004	0.000399361	0.0020	0.0004	0.0014	0	0.0002	0.0010	0.0016	0.0072	0.001119	173	154602	rs111033463	0.0010	0.0010	0.0007	0.0012	0.0071	0.0009	0.0009	0.0066	0.0064	0.0003	0.0003	0.0032	0	3.785e-05	0.0038	0.0006	0.0011	0.0071	0.0007	0.0007	0.0007	0.0007	0.0047	0.0006	0.0006	0.0032	0.0027	0.0002	0.0022	0.0003	0.0032	0	0	0	0.0008	0.0019	0.0047	0.698	0.05652	T	0.568	0.08870	T	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.53	0.55608	T	-0.07	0.08033	N	0.029	0.02088	-1.0979	0.04354	T	0.051	0.21689	T	9	0.0047968924	0.00101	T	0.003652	0.08402	T	0.007	0.00512	.	.	0.188950314367	0.18478	0.04871603969946865	0.04814	0.0250269406007	0.02547	0.321215897799	0.13606	T	0.009535	0.31904	T	-0.669087	0.00056	T	-0.731123	0.04277	T	0.000636441225987921	0.00006	T	0.606739	0.22845	T	0.021872044	0.00815	0.022192659	0.00250	0.014396173	0.00092	0.019614324	0.00097	-3.358	0.14497	T	.	.	0.075	0.05711	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	-1.608475	0.00236	0.004	0.55400346948440171	0.05334	0.00934	0.03615	N	AEFBI	0.056804	0.10529	N	-2.7341606929367	0.00004	0.0001952127	-2.80096084780075	0.00004	0.0002015117	0.999969443077129	0.48965	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.77	-7.55	0.01185	-3.928000	0.00374	-3.485000	0.02751	-5.354000	0.00011	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1397:0.1592:0.2119:0.4891	3.209	0.06278	953	0.10115	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.003788	0.07143	2962.44	33	chr10	53822328	.	C	T	2962.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.99;DP=421;ExcessHet=0;FS=1.233;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-1.25;SOR=0.583	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,105,1575	6	0	1	0
chr10	54213995	54213995	G	A	exonic	PCDH15	.	nonsynonymous SNV	PCDH15:NM_001142767:exon9:c.C928T:p.L310F,PCDH15:NM_001142768:exon9:c.C973T:p.L325F,PCDH15:NM_001142773:exon9:c.C973T:p.L325F,PCDH15:NM_001142764:exon10:c.C1039T:p.L347F,PCDH15:NM_001142765:exon10:c.C1039T:p.L347F,PCDH15:NM_001142766:exon10:c.C1039T:p.L347F,PCDH15:NM_001354411:exon10:c.C1039T:p.L347F,PCDH15:NM_001354420:exon10:c.C1039T:p.L347F,PCDH15:NM_001354429:exon10:c.C1039T:p.L347F,PCDH15:NM_001354430:exon10:c.C1039T:p.L347F,PCDH15:NM_001384140:exon10:c.C1039T:p.L347F,PCDH15:NM_033056:exon10:c.C1039T:p.L347F,PCDH15:NM_001142763:exon11:c.C1054T:p.L352F,PCDH15:NM_001354404:exon12:c.C973T:p.L325F	Deafness, autosomal recessive 23, Autosomal recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive;Usher syndrome, type 1F, Autosomal recessive	3	1495	24	0	0	24	0.00796284	.	.	.	55599	not_specified|Usher_syndrome_type_1|not_provided|Usher_syndrome_type_1F	MedGen:CN169374|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:C3661900|MONDO:MONDO:0011186,MedGen:C1865885,OMIM:602083,Orphanet:231169,Orphanet:886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.254	0.0477581669201	0.0035	0.00119808	0.0036	0.0006	0.0018	0	0.0009	0.0053	0.0033	0.0028	0.0035575	550	154602	rs111033436	0.0041	0.0041	0.0039	0.0042	0.0050	0.0040	0.0039	0.0042	0.0041	0.0007	0.0020	0.0168	0	0.0010	0.0050	0.0043	0.0045	0.0030	0.0032	0.0032	0.0033	0.0030	0.0046	0.0029	0.0028	0.0042	0.0040	0.0008	0.0110	0.0029	0.0161	0	0.0004	0.0034	0.0046	0.0043	0.0027	0.002	0.72154	D	0.0	0.92824	D	0.997	0.90584	D	0.964	0.88582	D	.	.	.	.	1	0.81001	D	2.615	0.76484	M	0.43	0.56772	T	-2.87	0.62518	D	0.807	0.87481	-0.3166	0.74517	T	0.307	0.67740	T	9	0.0059919655	0.00134	T	0.047758	0.63066	D	0.254	0.56428	.	.	0.705405603352	0.70284	0.6460078611123972	0.64535	0.21467462913	0.24008	0.611727297306	0.54561	T	0.124994	0.82072	T	-0.257932	0.13143	T	-0.140943	0.60036	T	0.0103998413265441	0.00143	T	0.944805	0.79334	D	0.4974293	0.66944	0.3812635	0.63140	0.50377804	0.67317	0.36944348	0.62214	-11.315	0.81932	D	0.6398601033422839	0.71041	0.504	0.74312	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.742781	0.76508	26.5	0.99903023584850525	0.97426	0.94803	0.62383	D	AEFDI	0.849311	0.76613	D	0.798106157721513	0.85986	8.743229	0.752945161623409	0.86377	8.869651	0.499505483150631	0.20930	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.99	4.99	0.65942	7.139000	0.76905	9.765000	0.81528	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.206	0.89790	894	0.26265	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like;Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005035	0.010101	0.001359	0.005848	0.000000	0.000000	0.006098	0.007576	0.1429	710.25	43	chr10	54213995	.	G	A	710.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.12;DP=219;ExcessHet=0.3476;FS=1.968;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=-0.423;SOR=0.667	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,964	5	0	2	0
chr10	60076361	60076361	G	A	exonic	ANK3	.	nonsynonymous SNV	ANK3:NM_020987:exon37:c.C4520T:p.T1507I	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.316	0.0241909512726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.993	0.65571	D	0.738	0.55619	P	0.000573	0.43250	D	0.000000	0.998229	0.81001	D	1.7	0.43825	L	-0.23	0.66652	T	-1.94	0.45042	N	0.733	0.73375	-0.2689	0.75841	T	0.393	0.74619	T	10	0.7431318	0.75099	D	0.024191	0.47175	T	0.316	0.63799	0.361	0.36548	0.716686645318	0.71419	0.537031922882868	0.53628	0.634878381221	0.57326	0.682146191597	0.64577	T	0.290587	0.66336	T	0.153816	0.69625	D	-0.016831	0.69238	D	0.976152420043945	0.71252	D	0.927907	0.73422	D	0.3067246	0.53501	0.52223384	0.72397	0.3067246	0.53501	0.52223384	0.72398	-4.8	0.34591	T	0.1549353684652172	0.18537	0.208	0.43435	B	.	.	4.433577	0.68776	25.3	0.99871823505018165	0.94902	0.99083	0.90974	D	AEFDBI	0.923243	0.89941	D	0.803117354773635	0.86301	8.841422	0.838469583293644	0.92325	11.36168	0.999999999999681	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.87	5.87	0.94266	9.602000	0.97623	11.837000	0.97708	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.201	0.98260	732	0.54084	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1042.27	62	chr10	60076361	.	G	A	1042.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.287;DP=234;ExcessHet=0;FS=3.875;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.81;ReadPosRankSum=-0.275;SOR=1.368	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1254	5	0	1	1
chr10	63207489	63207489	T	A	exonic	JMJD1C	.	nonsynonymous SNV	JMJD1C:NM_001322254:exon8:c.A3523T:p.T1175S,JMJD1C:NM_001282948:exon9:c.A3634T:p.T1212S,JMJD1C:NM_001318153:exon9:c.A3316T:p.T1106S,JMJD1C:NM_001322252:exon9:c.A4066T:p.T1356S,JMJD1C:NM_001322258:exon9:c.A3523T:p.T1175S,JMJD1C:NM_001318154:exon10:c.A3634T:p.T1212S,JMJD1C:NM_032776:exon10:c.A4180T:p.T1394S	.	424	1093	5	0	0	5	0.00228206	.	.	.	459977	not_provided|Early_myoclonic_encephalopathy	MedGen:C3661900|MedGen:C0270855	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.050	0.0100403153825	0.0007	0.000599042	0.0007	0.0002	0.0018	0	0	0.0008	0.0022	0.0002	0.0007115	110	154602	rs139881253	0.0007	0.0007	0.0007	0.0007	0.0198	0.0007	0.0007	0.0168	0.0157	0.0007	0.0020	0.0033	0	0	0.0198	0.0005	0.0019	0.0002	0.0009	0.0009	0.0010	0.0008	0.0037	0.0008	0.0007	0.0029	0.0026	0.0003	0	0.0037	0.0020	0	0	0.0340	0.0007	0.0028	0	0.0	0.91255	D	0.59	0.08217	T	0.966	0.56202	D	0.472	0.46817	P	0.006629	0.31903	N	0.351758	0.970212	0.38782	D	2.215	0.62545	M	0.81	0.48460	T	-0.73	0.21644	N	0.048	0.02658	-0.8899	0.48943	T	0.121	0.42122	T	10	0.009985298	0.00224	T	0.01004	0.26102	T	0.050	0.13987	0.215	0.13498	0.49019323153	0.48651	0.19557076434722143	0.19474	0.0624283650385	0.06944	0.348504960537	0.17702	T	0.010594	0.09554	T	-0.531189	0.00378	T	-0.542269	0.18073	T	0.0291640058648876	0.01862	T	0.659134	0.26825	T	0.19281463	0.40965	0.16971916	0.39027	0.19281463	0.40965	0.16971916	0.39026	-2.587	0.06405	T	0.2914492993869523	0.38805	0.099	0.17232	B	.;.;.	.;.;.	1.893026	0.24040	16.25	0.98336882145449223	0.40398	0.88915	0.49079	D	ALL	0.376356	0.46053	N	0.185914547892587	0.50521	3.241462	0.188065787848264	0.49193	3.125444	0.999999999999566	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.698795	0.65105	0	0.648885	0.59868	0	.	.	5.72	3.28	0.36691	1.624000	0.36629	1.399000	0.26181	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1263:0.0:0.1326:0.7411	8.877	0.34510	609	0.67094	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017623	0.030303	0.021739	0.026316	0.000000	0.008621	0.006098	0.011364	0.07143	58.44	106	chr10	63207489	.	T	A	58.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=302;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.84;ReadPosRankSum=1.47;SOR=0.693	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	6	0	1	0
chr10	63219927	63219927	T	A	exonic	JMJD1C	.	nonsynonymous SNV	JMJD1C:NM_001322252:exon3:c.A390T:p.E130D,JMJD1C:NM_032776:exon4:c.A504T:p.E168D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.04564168115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.025	0.56192	D	0.999	0.77913	D	0.991	0.79672	D	0.000002	0.62929	U	0.000000	0.999325	0.81001	D	1.905	0.50856	L	0.68	0.51952	T	-0.94	0.25118	N	0.679	0.68603	-0.7923	0.55595	T	0.192	0.54463	T	10	0.54771954	0.64079	D	0.045642	0.62080	D	0.173	0.43840	0.269	0.21735	0.577752204467	0.57444	0.623115086215076	0.62244	0.383909428268	0.39709	0.681375861168	0.64466	T	0.038889	0.24998	T	-0.0337521	0.46869	T	-0.286259	0.46161	T	0.819075348767483	0.47703	D	0.889011	0.61998	D	0.23750499	0.46616	0.16777481	0.38687	0.23750499	0.46616	0.16777481	0.38686	-4.151	0.26039	T	.	.	0.305	0.53417	B	.	.	3.766416	0.54074	23.4	0.99490583466642779	0.67403	0.91749	0.54182	D	ALL	0.378133	0.46164	N	0.419022329276331	0.62469	4.463256	0.396509740177306	0.61349	4.333809	0.99990554316354	0.45458	0.740787	0.97801	0	0.696367	0.67918	0	0.732669	0.93749	0	0.592323	0.36904	0	.	.	5.25	2.96	0.33383	1.666000	0.37076	3.385000	0.38029	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.2595:0.0:0.7405	8.419	0.31853	616	0.66398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr10	63219927	.	T	A	33.22	.	AC=2;AF=0.143;AN=14;DP=196;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1042	6	1	0	0
chr10	68884949	68884949	G	A	exonic	STOX1	.	nonsynonymous SNV	STOX1:NM_001130161:exon3:c.G1153A:p.E385K,STOX1:NM_152709:exon3:c.G1153A:p.E385K	Preeclampsia/eclampsia 4	0	1509	12	1	0	14	0.00461741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.566	.	0.0002	0.00998403	0.0058	0.0002	0.0002	0.0002	0	0.0003	0.0022	0.0406	0.0050646	783	154602	rs200117499	0.0025	0.0025	0.0015	0.0036	0.0380	0.0025	0.0024	0.0369	0.0365	0.0005	8.944e-05	0.0032	2.519e-05	0	0.0026	0.0001	0.0031	0.0380	0.0014	0.0014	0.0007	0.0021	0.0363	0.0012	0.0011	0.0319	0.0302	0.0001	0	0.0001	0.0020	0.0002	0	0	0.0002	0.0009	0.0363	0.006	0.61437	D	0.0	0.92824	D	0.999	0.77913	D	0.826	0.59373	P	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	3.21	0.89262	M	-1.62	0.82347	D	-3.03	0.62747	D	0.573	0.59563	0.591	0.91785	D	0.740	0.91123	D	10	0.007938951	0.00180	T	.	.	.	0.566	0.82289	.	.	0.838516671336	0.83697	0.5094777767590273	0.50869	0.392926069305	0.40471	0.489928007126	0.37428	T	0.217738	0.58026	T	-0.199982	0.20807	T	-0.0314683	0.68270	D	0.134576356795939	0.15798	T	0.857914	0.54791	D	0.47448382	0.65565	0.36013976	0.61461	0.5035106	0.67302	0.36013976	0.61461	-6.363	0.49220	T	0.77365992344935	0.85439	0.132	0.45086	B	.;.;.	.;.;.	3.992822	0.58778	24.0	0.9990849136747314	0.97875	0.99788	0.99470	D	AEFBI	0.905740	0.85763	D	0.796221694347726	0.85869	8.706829	0.749981216235556	0.86154	8.799867	0.999999999243709	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	5.72	5.72	0.89380	9.765000	0.98142	9.751000	0.81472	-0.167000	0.11441	1.000000	0.71638	1.000000	0.68203	0.112000	0.18829	0.0:0.0:1.0:0.0	19.875	0.96865	676	0.60355	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.000000	0.008152	0.005848	0.000000	0.000000	0.000000	0.003788	0.07143	931.53	70	chr10	68884949	.	G	A	931.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.862;DP=249;ExcessHet=0;FS=0.918;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=1.24;SOR=0.687	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1132	6	0	1	0
chr10	69005076	69005076	C	T	exonic	KIFBP	.	nonsynonymous SNV	KIFBP:NM_015634:exon3:c.C556T:p.R186C	.	0	1516	6	0	0	6	0.00197498	.	.	.	207787	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.090	0.0116134492259	.	0.000199681	0.0001	0	0	0	0	7.509e-05	0	0.0005	9.06e-05	14	154602	rs200098813	6.159e-05	6.156e-05	4.358e-05	7.978e-05	0.0007	5.096e-05	4.717e-05	0.0005	0.0005	2.989e-05	0	0	0	0	0.0002	2.159e-05	9.938e-05	0.0007	3.285e-05	3.281e-05	0	6.718e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.176	0.22312	T	0.177	0.29740	T	0.279	0.32056	B	0.004	0.10090	B	0.000031	0.55875	N	0.193241	0.608728	0.30879	N	0	0.06538	N	0.96	0.42888	T	-0.39	0.13611	N	0.173	0.19459	-1.0549	0.13066	T	0.051	0.21611	T	10	0.029938102	0.01119	T	0.011613	0.29407	T	0.090	0.26093	0.329	0.31357	0.215869574891	0.21205	0.20233779559835324	0.20150	0.625028188271	0.56690	0.272708654404	0.06497	T	0.025514	0.19064	T	-0.487937	0.00667	T	-0.582287	0.14342	T	0.0509500982539343	0.05666	T	0.690331	0.31049	T	0.06140189	0.12710	0.047238357	0.06762	0.06140189	0.12709	0.047238357	0.06762	-2.827	0.08435	T	.	.	0.079	0.08851	B	.;.;.	.;.;.	2.247974	0.28711	17.89	0.89516138237541665	0.18863	0.67185	0.33341	D	ALL	0.184487	0.31181	N	-0.641033587634973	0.17721	0.9143173	-0.455348819939227	0.23397	1.275734	0.999999870634786	0.74766	0.730579	0.87903	0	0.637152	0.57089	0	0.630245	0.45026	0	0.648885	0.59868	0	.	.	5.79	3.96	0.45097	1.457000	0.34822	4.000000	0.41065	-2.016000	0.00438	1.000000	0.71638	1.000000	0.68203	0.396000	0.26692	0.0:0.8642:0.0:0.1358	12.611	0.55906	760	0.50470	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	1919.44	33	chr10	69005076	.	C	T	1919.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.02;DP=364;ExcessHet=0;FS=1.159;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=1.22;SOR=0.813	GT:AD:DP:GQ:PL	0/1:98,84:182:99:1930,0,2063	6	0	1	0
chr10	69247431	69247432	GC	-	exonic	HKDC1	.	frameshift deletion	HKDC1:NM_025130:exon9:c.1103_1104del:p.C368Yfs*71	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3242.4	34	chr10	69247430	.	TGC	T	3242.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.711;DP=359;ExcessHet=0;FS=0.561;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.74;ReadPosRankSum=0.843;SOR=0.643	GT:AD:DP:GQ:PL	0/1:89,84:173:99:3253,0,3476	6	0	1	0
chr10	70598831	70598831	C	T	exonic	PRF1	.	nonsynonymous SNV	PRF1:NM_001083116:exon3:c.G890A:p.R297Q,PRF1:NM_005041:exon3:c.G890A:p.R297Q	Aplastic anemia;Hemophagocytic lymphohistiocytosis, familial, 2, Autosomal recessive;Lymphoma, non-Hodgkin	.	.	.	.	.	.	.	.	.	YES	1902872	PRF1-related_disorder|Familial_hemophagocytic_lymphohistiocytosis_2	.|MONDO:MONDO:0011337,MedGen:C1863727,OMIM:603553,Orphanet:540	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.051	0.0329628230551	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs752189303	1.3e-05	1.3e-05	9.528e-06	1.65e-05	5.038e-05	8.31e-06	6.7e-06	1.583e-05	9.3e-06	2.987e-05	2.236e-05	0	5.038e-05	0	0	8.993e-06	1.656e-05	4.637e-05	6.57e-06	6.566e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.273	0.15876	T	0.313	0.19539	T	0.032	0.20242	B	0.005	0.11217	B	0.905422	0.07382	N	1.054840	1	0.08975	N	0.945	0.23706	L	-1.77	0.83660	D	-0.12	0.08809	N	0.057	0.02861	-0.8766	0.50028	T	0.288	0.65978	T	10	0.054711044	0.05868	T	0.032963	0.54648	D	0.051	0.14325	0.419	0.46036	0.350088858571	0.34617	0.35149233808561636	0.35063	0.128085177085	0.14442	0.225293263793	0.01639	T	0.168583	0.51564	T	-0.330451	0.06078	T	-0.543318	0.17972	T	0.0631143823266029	0.07649	T	0.746125	0.36682	T	0.07083218	0.15635	0.06784718	0.14092	0.07083218	0.15634	0.06784718	0.14091	-3.747	0.20015	T	0.17804030954395358	0.22800	0.077	0.06617	B	.;.	.;.	0.283614	0.06604	3.096	0.94831282458705324	0.25611	0.07310	0.13332	N	AEFDGBCI	0.099815	0.20084	N	-1.35433632726016	0.03080	0.1370383	-1.39988137727253	0.03253	0.1514072	0.999999663118515	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.615948	0.41167	0	0.542086	0.14980	0	.	.	5.83	-4.42	0.03329	-1.290000	0.02886	-7.352000	0.01175	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.301000	0.24523	0.0:0.2677:0.1129:0.6194	9.165	0.36207	486	0.77016	Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain;Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1167.46	104	chr10	70598831	.	C	T	1167.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.52;DP=333;ExcessHet=0;FS=0.754;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=0.101;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,105,1289:.	6	0	1	0
chr10	70771398	70771398	G	A	exonic	TBATA	.	nonsynonymous SNV	TBATA:NM_001318241:exon11:c.C1037T:p.S346L,TBATA:NM_001318242:exon11:c.C1034T:p.S345L,TBATA:NM_001318243:exon11:c.C1031T:p.S344L,TBATA:NM_152710:exon11:c.C1034T:p.S345L	.	424	1095	3	0	0	3	0.00136799	.	.	.	81994	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.127	0.0210382929624	0.0002	0.000399361	0.0004	0	0.0002	0	0	8.991e-05	0	0.0025	0.0003428	53	154602	rs149097055	0.0002	0.0002	0.0001	0.0003	0.0025	0.0002	0.0002	0.0022	0.0021	2.987e-05	0	7.653e-05	2.519e-05	7.489e-05	0.0003	4.496e-05	0.0001	0.0025	0.0002	0.0002	3.855e-05	0.0003	0.0041	0.0001	8.712e-05	0.0027	0.0023	0	0	0	0	0	0	0	4.411e-05	0	0.0041	0.004	0.65419	D	0.012	0.63918	D	0.938	0.52538	P	0.241	0.38645	B	0.990337	0.07898	N	1.007740	1	0.08975	N	.	.	.	0.73	0.50721	T	-1.56	0.37759	N	0.143	0.16168	-1.0599	0.11781	T	0.073	0.29515	T	10	0.008525312	0.00193	T	0.021038	0.43745	T	0.127	0.34888	.	.	0.104622674875	0.10061	0.09759595470905068	0.09690	0.0805848671954	0.09068	0.306189328432	0.11332	T	0.140382	0.47489	T	-0.579904	0.00193	T	-0.611316	0.11878	T	0.0472475316030224	0.05008	T	0.533147	0.17760	T	0.04456663	0.07146	0.060520973	0.11539	0.041810248	0.06224	0.060664102	0.11591	-3.658	0.18700	T	.	.	0.093	0.14155	B	.;.	.;.	1.014242	0.13936	10.50	0.93856457859841247	0.23859	0.06794	0.12817	N	AEFDBI	0.074296	0.14886	N	-0.640206069844397	0.17745	0.9157683	-0.721930625031023	0.16415	0.8682674	0.452098071325362	0.20549	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.41	3.51	0.39297	1.335000	0.33444	2.718000	0.34289	-0.690000	0.04136	0.003000	0.16062	0.311000	0.24273	0.000000	0.00833	0.1056:0.0:0.8944:0.0	8.895	0.34615	433	0.80627	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1191.49	33	chr10	70771398	.	G	A	1191.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.581;DP=281;ExcessHet=0;FS=0.718;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-2.295;SOR=0.588	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1263	6	0	1	0
chr10	71287711	71287711	G	A	exonic	UNC5B	.	nonsynonymous SNV	UNC5B:NM_001244889:exon6:c.G847A:p.A283T,UNC5B:NM_170744:exon6:c.G847A:p.A283T	.	425	1095	1	1	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0102553298708	.	0.00119808	0.0005	0	0	0	0	0	0	0.0039	0.0004592	71	154602	rs552032981	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0027	0	0	0	0	0	0.0002	8.998e-07	9.942e-05	0.0032	9.849e-05	9.843e-05	7.71e-05	0.0001	0.0031	6.002e-05	4.876e-05	0.0019	0.0015	0	0	0	0	0	0	0	0	0	0.0031	0.073	0.35537	T	0.155	0.31936	T	0.017	0.17573	B	0.054	0.25828	B	0.000020	0.62929	D	0.116765	0.999989	0.54805	D	1.73	0.44655	L	0.63	0.53088	T	-2.05	0.47008	N	0.353	0.39558	-0.9171	0.45945	T	0.110	0.39651	T	10	0.011901945	0.00258	T	0.010255	0.26566	T	0.102	0.29158	0.461	0.52916	0.649715346086	0.64680	0.2503026391388829	0.24944	0.170572890035	0.19226	0.542036056519	0.44733	T	0.136138	0.46834	T	-0.492789	0.00627	T	-0.482107	0.24223	T	0.0755230480959923	0.09405	T	0.853715	0.53946	D	0.065612204	0.14038	0.092662156	0.21848	0.065612204	0.14038	0.092662156	0.21847	-6.717	0.51938	T	.	.	0.068	0.04002	B	.;.	.;.	3.638542	0.51583	23.1	0.9982206240492455	0.90502	0.90738	0.52168	D	AEFDBI	0.327195	0.42824	N	0.0119543412653185	0.42398	2.553848	0.143815622490177	0.46815	2.921418	0.999981528717527	0.51787	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.88	3.96	0.45097	3.959000	0.56451	5.909000	0.50995	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.1812:0.0:0.5653:0.2535	4.167	0.09775	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	134.44	35	chr10	71287711	.	G	A	134.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-1.846;SOR=0.941	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1259	6	0	1	0
chr10	71296686	71296686	G	A	exonic	UNC5B	.	nonsynonymous SNV	UNC5B:NM_001244889:exon14:c.G2401A:p.V801M,UNC5B:NM_170744:exon15:c.G2434A:p.V812M	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.0656074515641	7.7e-05	.	1.651e-05	0	0	0	0	3.007e-05	0	0	1.29e-05	2	154602	rs370153366	3.147e-05	3.147e-05	2.178e-05	4.125e-05	0.0001	2.412e-05	2.158e-05	3.982e-05	2.373e-05	0.0001	2.236e-05	0	0	0	0	3.237e-05	4.967e-05	2.319e-05	3.942e-05	3.94e-05	5.138e-05	2.689e-05	7.348e-05	1.715e-05	1.129e-05	2.846e-05	1.858e-05	2.412e-05	0	0	0	0	0	0	7.348e-05	0	0	0.032	0.45756	D	0.065	0.44702	T	1.0	0.90584	D	0.999	0.92359	D	0.000268	0.46590	D	0.142522	1	0.81001	D	2.7	0.79018	M	0.37	0.58468	T	-2.47	0.53898	N	0.88	0.90476	-0.2180	0.77204	T	0.396	0.74844	T	10	0.8108239	0.80368	D	0.065607	0.69628	D	0.414	0.72479	.	.	0.734323642297	0.73195	0.6870043408779415	0.68640	0.640975438989	0.57713	0.757858276367	0.75611	T	0.315777	0.68735	T	0.0652836	0.60270	T	0.0375268	0.72767	D	0.399973727340797	0.28941	T	0.938606	0.76932	D	0.21890455	0.44410	0.18387304	0.41405	0.21890455	0.44410	0.18387304	0.41404	-8.995	0.67666	D	.	.	0.860	0.80327	P	.;.	.;.	5.221189	0.87624	29.3	0.99892867485363579	0.96666	0.99528	0.97099	D	AEFBI	0.908432	0.86373	D	0.840422459185642	0.88555	9.62291	0.808417830832258	0.90370	10.37746	0.999999999999982	0.74766	0.732398	0.92422	0	0.563428	0.19063	0	0.743671	0.96076	0	0.586402	0.36253	0	.	.	5.14	5.14	0.70008	10.003000	0.99689	8.611000	0.77769	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	18.589	0.91160	900	0.24599	UPA domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1645.25	34	chr10	71296686	.	G	A	1645.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.29;DP=301;ExcessHet=0.3476;FS=2.027;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=0.812;SOR=0.865	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1213	5	0	2	0
chr10	71806223	71806223	C	T	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171933:exon10:c.C1400T:p.P467L,CDH23:NM_001171934:exon10:c.C1400T:p.P467L,CDH23:NM_022124:exon55:c.C8120T:p.P2707L	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1503	19	0	0	19	0.00628099	.	.	.	752240	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.335	.	.	0.00279553	0.0030	0	0.0008	0	0	0.0003	0	0.0104	0.0009573	148	154602	rs373230009	0.0006	0.0007	0.0004	0.0009	0.0093	0.0006	0.0006	0.0087	0.0085	0	0.0003	0	0	0	0.0042	6.486e-05	0.0009	0.0093	0.0004	0.0004	0.0003	0.0004	0.0083	0.0003	0.0003	0.0063	0.0055	2.406e-05	0	0.0003	0	0.0006	0	0.0034	5.881e-05	0.0005	0.0083	0.03	0.45393	D	0.003	0.76473	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.725	0.01781	N	0.24	0.59583	T	-2.23	0.50012	N	0.972	0.98268	-0.7626	0.57264	T	0.206	0.56485	T	10	0.010227531	0.00228	T	.	.	.	0.335	0.65718	0.44	0.49484	0.865627351664	0.86432	0.6866559061639508	0.68605	0.296736206452	0.32059	0.759593367577	0.75868	T	0.02799	0.58006	T	-0.0948292	0.37278	T	0.0975471	0.76745	D	0.0676290445450662	0.08315	T	0.958604	0.84374	D	0.4887914	0.66431	0.3310389	0.58967	0.45600507	0.64422	0.29566696	0.55598	-5.729	0.47793	T	.	.	0.148	0.38390	B	.;.;.;.	.;.;.;.	5.020994	0.83447	28.0	0.99899295886099915	0.97124	0.92335	0.55474	D	AEFDGBHCI	0.948946	0.96110	D	0.420765350813866	0.62566	4.47446	0.484984844637473	0.66993	5.025127	1.0	0.98316	0.56387	0.32371	0	0.491513	0.07743	0	0.503968	0.08637	0	0.562822	0.20929	0	.	.	5.13	5.13	0.69729	7.869000	0.85513	4.840000	0.45276	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.577	0.91115	791	0.46100	Cadherin-like;Cadherin-like;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.003788	0.2143	4817.79	33	chr10	71806223	.	C	T	4817.79	.	AC=3;AF=0.214;AN=14;BaseQRankSum=2.78;DP=300;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=29.02;ReadPosRankSum=1.05;SOR=0.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1113:.	5	1	1	0
chr10	71810506	71810506	C	G	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171933:exon15:c.C2294G:p.A765G,CDH23:NM_001171934:exon15:c.C2294G:p.A765G,CDH23:NM_022124:exon60:c.C9014G:p.A3005G	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1502	19	0	1	20	0.00628515	.	.	.	229902	Usher_syndrome_type_1|not_provided|not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_12|Usher_syndrome_type_1D	MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.132	.	.	0.00279553	0.0014	0	0.0005	0.0001	0	7.506e-05	0	0.0098	0.0012484	193	154602	rs188966938	0.0007	0.0007	0.0004	0.0009	0.0095	0.0006	0.0006	0.0090	0.0087	0	0.0002	0	0	0	0.0042	6.386e-05	0.0009	0.0095	0.0003	0.0003	0.0003	0.0004	0.0083	0.0003	0.0002	0.0063	0.0055	0	0	0.0003	0	0.0002	0	0.0034	5.882e-05	0.0005	0.0083	0.09	0.31987	T	0.0	0.92824	D	0.002	0.09854	B	0.002	0.06944	B	0.001150	0.40056	N	0.207044	0.999995	0.58761	D	1.61	0.41143	L	0.37	0.57729	T	-1.71	0.40660	N	0.593	0.62696	-0.9556	0.39988	T	0.158	0.49094	T	10	0.008377165	0.00190	T	.	.	.	0.132	0.35948	.	.	0.745349639804	0.74305	0.34334484325574466	0.34248	0.2100548403	0.23481	0.697732031345	0.66816	T	0.007964	0.42196	T	-0.391431	0.02633	T	-0.327648	0.41731	T	0.028044143335165	0.01694	T	0.880112	0.59716	D	0.12058347	0.28372	0.2079746	0.45079	0.13911167	0.32146	0.22425441	0.47330	-6.718	0.53092	T	.	.	0.237	0.47128	B	.;.;.;.	.;.;.;.	3.218561	0.43840	21.8	0.99538915635684622	0.70398	0.86109	0.45329	D	AEFDBCI	0.538368	0.55579	D	-0.0761480775168596	0.38442	2.251477	0.0955146348702413	0.44321	2.716241	0.999999999795303	0.74766	0.554377	0.28877	0	0.514364	0.08380	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.67	5.67	0.87673	3.284000	0.51413	7.651000	0.63703	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.799000	0.37691	0.0:1.0:0.0:0.0	19.761	0.96312	785	0.46916	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.2143	4327.74	33	chr10	71810506	.	C	G	4327.74	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.249;DP=395;ExcessHet=0;FS=0.513;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=18.18;ReadPosRankSum=-0.327;SOR=0.768	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	1	1	0
chr10	71811550	71811550	G	A	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171933:exon17:c.G2518A:p.A840T,CDH23:NM_001171934:exon17:c.G2518A:p.A840T,CDH23:NM_022124:exon62:c.G9238A:p.A3080T	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1503	19	0	0	19	0.00628099	.	.	.	229903	Usher_syndrome_type_1|not_provided|not_specified|Usher_syndrome_type_1D|Autosomal_recessive_nonsyndromic_hearing_loss_12	MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.133	.	7.8e-05	0.00299521	0.0015	0	0.0005	0.0007	0	7.494e-05	0	0.0099	0.0013066	202	154602	rs369395479	0.0007	0.0007	0.0005	0.0010	0.0095	0.0007	0.0007	0.0090	0.0088	5.974e-05	0.0002	0	0.0005	0	0.0042	0.0001	0.0009	0.0095	0.0004	0.0004	0.0003	0.0004	0.0085	0.0003	0.0003	0.0064	0.0057	4.817e-05	0	0.0003	0	0.0004	0	0.0034	8.824e-05	0.0009	0.0085	0.316	0.13744	T	0.108	0.38891	T	0.016	0.17332	B	0.002	0.06944	B	0.000051	0.53742	D	0.072195	0.999902	0.50806	D	1.295	0.32453	L	0.24	0.59583	T	-1.79	0.42191	N	0.45	0.48780	-0.9216	0.45334	T	0.145	0.46859	T	10	0.008137375	0.00185	T	.	.	.	0.133	0.36157	.	.	0.777339287198	0.77529	0.7024125172313511	0.70182	0.174077167911	0.19599	0.457005262375	0.32900	T	0.016806	0.59237	T	-0.387317	0.02800	T	-0.321596	0.42400	T	0.0386353492225009	0.03444	T	0.816218	0.47186	T	0.051676724	0.09526	0.13800593	0.32971	0.04183747	0.06234	0.12340108	0.29756	-6.772	0.53299	T	.	.	0.107	0.20117	B	.;.;.;.	.;.;.;.	3.374855	0.46651	22.3	0.98528525038825709	0.42558	0.84584	0.43667	D	AEFDBCI	0.610479	0.59930	D	-0.255459950207905	0.30885	1.726467	-0.103550876891836	0.35246	2.036932	0.99999752825339	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.562822	0.20929	0	.	.	5.36	4.46	0.53567	5.805000	0.68809	8.594000	0.77699	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0701:0.0:0.7984:0.1315	10.628	0.44712	787	0.46738	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.2143	5824.79	33	chr10	71811550	.	G	A	5824.79	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.637;DP=434;ExcessHet=0;FS=2.372;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=20.88;ReadPosRankSum=-0.878;SOR=0.719	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1446	5	1	1	0
chr10	73251762	73251762	C	-	splicing	MRPS16	NM_016065:exon2:c.274+1G>-	.	.	Combined oxidative phosphorylation deficiency 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.604e-05	0	0	0	0	0	0	0.0005	5.17e-05	8	154602	rs778212156	3.283e-05	3.352e-05	1.906e-05	4.675e-05	0.0003	2.543e-05	2.249e-05	0.0002	0.0002	0	0	0	0	0	0	1.619e-05	1.656e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1250.41	33	chr10	73251761	.	AC	A	1250.41	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.931;DP=297;ExcessHet=0;FS=1.615;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-1.321;SOR=0.505	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1080	6	0	1	0
chr10	73323084	73323084	G	A	exonic	CFAP70	.	nonsynonymous SNV	CFAP70:NM_001350934:exon8:c.C425T:p.A142V,CFAP70:NM_001350933:exon9:c.C791T:p.A264V,CFAP70:NM_001367801:exon10:c.C1001T:p.A334V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0044162599698	.	.	8.293e-06	0	0	0	0	0	0	6.269e-05	6.5e-06	1	154602	rs777869852	6.851e-07	6.84e-07	0	1.377e-06	1.166e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.166e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.13654	T	0.306	0.19972	T	0.001	0.07471	B	0.001	0.04355	B	0.656899	0.05957	N	1.143820	1	0.28506	N	.	.	.	1.96	0.22270	T	-0.92	0.24676	N	0.101	0.08366	-1.0110	0.26604	T	0.034	0.14726	T	10	0.01594308	0.00335	T	0.004416	0.10781	T	0.009	0.00846	0.237	0.16760	0.0297737177859	0.01360	0.24483438169005461	0.24397	0.297358880734	0.32117	0.301736861467	0.10659	T	0.009737	0.08845	T	-0.398881	0.02355	T	-0.710111	0.05289	T	0.0288257626478234	0.01811	T	0.305069	0.05837	T	0.03883387	0.05250	0.053231195	0.08925	0.03883387	0.05250	0.053231195	0.08925	-5.26	0.39546	T	.	.	0.074	0.05103	B	.	.	0.920976	0.12960	9.466	0.65428300388729943	0.07770	0.05042	0.10828	N	AEFDBHCI	0.042217	0.06523	N	-1.28706635486717	0.03830	0.1718098	-1.24021041461966	0.05278	0.2510757	0.0128041042920385	0.12377	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.81	-3.5	0.04411	-0.459000	0.06805	-0.692000	0.07835	-0.801000	0.03157	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.0:0.3278:0.3296:0.3426	6.164	0.19598	881	0.29269	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	51.83	49	chr10	73323084	.	G	A	51.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.345;DP=264;ExcessHet=0;FS=37.347;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.48;ReadPosRankSum=1.27;SOR=5.132	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr10	73916498	73916498	C	T	exonic	PLAU	.	nonsynonymous SNV	PLAU:NM_001145031:exon10:c.C1178T:p.T393M,PLAU:NM_001319191:exon10:c.C971T:p.T324M,PLAU:NM_002658:exon11:c.C1229T:p.T410M	Quebec platelet disorder, Autosomal dominant	1	1519	2	0	0	2	0.000657895	.	.	.	1017314	Quebec_platelet_disorder	MONDO:MONDO:0011136,MedGen:C1866423,OMIM:601709,Orphanet:220436	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.590	0.0639443641028	.	.	8.624e-06	0	0	0	0	1.555e-05	0	0	6.5e-06	1	154602	rs764252595	1.984e-05	2.052e-05	1.089e-05	2.888e-05	0.0003	1.392e-05	1.204e-05	6.117e-05	2.531e-05	0	2.237e-05	3.827e-05	0	0	0.0003	2.158e-05	1.656e-05	0	2.628e-05	2.626e-05	3.853e-05	1.345e-05	4.409e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.412e-05	0	0	0	0	0	0	4.409e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.049308	1	0.81001	D	.	.	.	1.09	0.39223	T	-5.1	0.83027	D	0.786	0.80473	-0.1537	0.78825	T	0.358	0.72006	T	10	0.95317703	0.94663	D	0.063944	0.69124	D	0.590	0.83636	0.86	0.95774	0.798993569784	0.79712	0.9484124517363113	0.94824	0.995633623574	0.74220	0.536884725094	0.44006	T	0.656433	0.89636	D	0.146279	0.68919	D	0.0552081	0.73926	D	0.994951605796814	0.86582	D	0.822518	0.48242	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.422	0.60783	A	.;.	.;.	4.673459	0.74716	26.2	0.9991432340669878	0.98309	0.93993	0.59791	D	AEFDBCI	0.783340	0.71435	D	0.844965083267397	0.88819	9.724216	0.754567954598784	0.86499	8.908443	0.99999999999984	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	7.101000	0.76647	7.713000	0.66906	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.721000	0.34804	0.0:1.0:0.0:0.0	17.158	0.86675	394	0.83065	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	584.45	33	chr10	73916498	.	C	T	584.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.43;DP=225;ExcessHet=0;FS=1.069;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=1.04;SOR=0.786	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1374	6	0	1	0
chr10	79611934	79611934	G	A	exonic	SFTPA1	.	nonsynonymous SNV	SFTPA1:NM_001164647:exon2:c.G109A:p.G37R,SFTPA1:NM_001093770:exon3:c.G154A:p.G52R,SFTPA1:NM_001164644:exon3:c.G109A:p.G37R,SFTPA1:NM_005411:exon3:c.G109A:p.G37R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.659	0.159775982579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.91255	D	0.004	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000047	0.53742	D	0.000000	0.999999	0.27979	N	4.675	0.99424	H	-5.77	0.99345	D	-4.88	0.91653	D	0.755	0.75466	0.889	0.95529	D	0.982	0.99463	D	10	0.8174249	0.80970	D	0.159776	0.83991	D	0.659	0.87234	0.594	0.72371	0.989298936457	0.98917	0.527944747745358	0.52718	0.140332092331	0.15827	0.77517747879	0.78201	T	0.676578	0.90457	D	0.321352	0.84569	D	0.223824	0.84367	D	0.985290050506592	0.76324	D	0.987701	0.95793	D	0.31930512	0.54582	0.38217813	0.63210	0.31930512	0.54582	0.38217813	0.63210	-11.129	0.80360	D	.	.	0.641	0.75714	P	.;.;.;.;.	.;.;.;.;.	4.684105	0.74992	26.3	0.99858239762802115	0.93729	0.45295	0.27507	N	AEFDGBI	0.110053	0.21838	N	0.47314780493075	0.65528	4.833803	0.224967650246506	0.51237	3.30794	8.90575072625723E-4	0.07960	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.645665	0.59343	0	.	.	2.63	2.63	0.30420	4.742000	0.61798	9.387000	0.80554	0.584000	0.30380	0.996000	0.39380	1.000000	0.68203	0.331000	0.25224	0.0:0.0:1.0:0.0	8.900	0.34649	702	0.57624	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	3248.44	79	chr10	79611934	.	G	A	3248.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.685;DP=818;ExcessHet=0;FS=7.52;MLEAC=1;MLEAF=0.071;MQ=54.06;MQRankSum=5.38;QD=16.74;ReadPosRankSum=2.09;SOR=0.367	GT:AD:DP:GQ:PL	0/0:112,0:112:99:0,120,1800	6	0	1	0
chr10	80142157	80142157	G	A	exonic	PLAC9	.	nonsynonymous SNV	PLAC9:NM_001012973:exon2:c.G140A:p.R47H,PLAC9:NM_001331125:exon2:c.G140A:p.R47H	.	431	1051	34	6	0	46	0.0214153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0011	0.00958466	0.0060	0.0003	0.0014	0.0001	0	0.0016	0.0034	0.0365	0.0052781	816	154602	rs140942088	0.0034	0.0034	0.0022	0.0045	0.0359	0.0033	0.0032	0.0349	0.0344	0.0002	0.0013	0.0002	0.0001	3.751e-05	0.0125	0.0013	0.0035	0.0359	0.0020	0.0020	0.0015	0.0026	0.0347	0.0018	0.0018	0.0304	0.0288	0.0003	0	0.0010	0	0.0002	0	0.0170	0.0014	0.0047	0.0347	0.203	0.46129	T	0.447	0.34241	T	0.955	0.54515	P	0.202	0.36942	B	0.159526	0.03027	N	1.822350	1	0.08975	N	.	.	.	.	.	.	-2.02	0.46842	N	0.199	0.28849	-1.0179	0.24398	T	0.045	0.19194	T	8	0.0045104027	0.00093	T	.	.	.	0.042	0.11227	.	.	0.0846915920261	0.08053	0.05386547015840243	0.05328	0.0558337906702	0.06170	0.300910115242	0.10536	T	0.092442	0.40309	T	-0.528398	0.00392	T	-0.505323	0.21796	T	0.0103946692802029	0.00143	T	0.537046	0.20808	T	0.030752346	0.02793	0.029370682	0.01267	0.030752346	0.02793	0.029370682	0.01267	-4.839	0.35042	T	.	.	0.07	0.11414	B	.;.;.	.;.;.	1.452229	0.18731	13.90	0.99260506571612439	0.57188	0.04294	0.09839	N	AEFDGBCI	0.041972	0.06451	N	-0.577971813383933	0.19615	1.027963	-0.754565020862231	0.15610	0.8218491	0.999987364452922	0.51787	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	3.74	0.88	0.18296	0.343000	0.19686	2.824000	0.34981	-0.192000	0.09343	0.001000	0.13787	0.185000	0.23452	0.029000	0.12982	0.3502:0.0:0.6498:0.0	5.719	0.17244	919	0.19497	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011581	0.010101	0.002717	0.011696	0.000000	0.008621	0.021341	0.015152	0.07143	1847.44	34	chr10	80142157	.	G	A	1847.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.844;DP=342;ExcessHet=0;FS=0.594;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-0.183;SOR=0.635	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr10	80164097	80164097	C	T	exonic	ANXA11	.	nonsynonymous SNV	ANXA11:NM_001157:exon8:c.G905A:p.R302H,ANXA11:NM_145868:exon9:c.G905A:p.R302H,ANXA11:NM_001278407:exon10:c.G905A:p.R302H,ANXA11:NM_001278408:exon10:c.G905A:p.R302H,ANXA11:NM_001278409:exon10:c.G806A:p.R269H,ANXA11:NM_145869:exon10:c.G905A:p.R302H	.	395	1121	6	0	0	6	0.00266904	.	.	.	1658875	not_provided|Amyotrophic_lateral_sclerosis_type_23|ANXA11-related_disorder	MedGen:C3661900|MONDO:MONDO:0027694,MedGen:C4693381,OMIM:617839|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.668	0.0493780921389	7.7e-05	0.00159744	0.0006	0.0007	0	0	0	3e-05	0	0.0038	0.0005304	82	154602	rs140133265	0.0003	0.0003	0.0002	0.0005	0.0040	0.0003	0.0003	0.0037	0.0035	0.0006	0.0001	0	0.0001	0	0.0012	7.914e-05	0.0004	0.0040	0.0003	0.0003	0.0003	0.0003	0.0041	0.0002	0.0002	0.0027	0.0023	0.0002	0	0.0001	0	0	0	0	0.0001	0.0005	0.0041	0.002	0.72154	D	0.005	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	3.625	0.93960	H	2.65	0.12676	T	-4.55	0.78553	D	0.952	0.96187	-0.7329	0.58817	T	0.140	0.45828	T	10	0.0721657	0.10736	T	0.049378	0.63785	D	0.668	0.87674	.	.	0.873778278703	0.87255	0.8349654166634419	0.83455	0.409613746433	0.41775	0.588570654392	0.51293	T	0.187453	0.54106	T	-0.0621109	0.42577	T	0.138135	0.79424	D	0.148524063628641	0.16985	T	0.973403	0.90433	D	0.6264487	0.74109	0.51792556	0.72147	0.6646608	0.76149	0.50552297	0.71420	-12.069	0.85185	D	.	.	0.752	0.75123	P	.;.;.;.	.;.;.;.	6.311832	0.94994	34	0.99940386774845802	0.99767	0.88949	0.49131	D	AEFDGBHCI	0.942933	0.94813	D	0.845420695383476	0.88844	9.734498	0.76115552842074	0.86990	9.069395	0.999999999999914	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.47	4.56	0.55644	7.798000	0.84489	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.1552:0.8448:0.0:0.0	13.749	0.62377	933	0.16026	Annexin repeat, conserved site;Annexin repeat, conserved site;.;Annexin repeat, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	574.53	64	chr10	80164097	.	C	T	574.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.439;DP=292;ExcessHet=0;FS=0.966;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=0.524;SOR=0.633	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	6	0	1	0
chr10	80170869	80170869	C	T	exonic	ANXA11	.	startloss	ANXA11:NM_001157:exon3:c.G102A:p.M34I,ANXA11:NM_145868:exon4:c.G102A:p.M34I,ANXA11:NM_001278407:exon5:c.G102A:p.M34I,ANXA11:NM_001278408:exon5:c.G102A:p.M34I,ANXA11:NM_001278409:exon5:c.G3A:p.M1?,ANXA11:NM_145869:exon5:c.G102A:p.M34I	.	411	1108	3	0	0	3	0.00135196	.	.	.	1350245	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.231	0.0172140530574	.	.	2.707e-05	0	0	0	0	4.715e-05	0	0	1.94e-05	3	154602	rs775371260	7.86e-05	8.345e-05	7.508e-05	8.219e-05	9.963e-05	6.666e-05	6.203e-05	8.425e-05	7.83e-05	0	0	0	0	0	0	9.963e-05	3.464e-05	0	3.285e-05	3.283e-05	5.138e-05	1.345e-05	7.35e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0	0.391	0.91255	T	0.295	0.23914	T	0.0	0.02946	B	0.001	0.04355	B	0.289431	0.03884	N	1.466210	1	0.81001	D	1.245	0.31408	L	4.66	0.02084	T	-0.42	0.43334	N	0.427	0.58968	-0.8827	0.49545	T	0.007	0.02518	T	10	0.11075854	0.35254	T	0.017214	0.38815	T	0.231	0.53208	0.183	0.09131	0.130388298395	0.12655	0.12017455722612587	0.11944	0.0634574563292	0.07066	0.55156058073	0.46077	T	0.013224	0.11479	T	-0.0763967	0.40299	T	-0.347515	0.39490	T	0.125109296255287	0.14923	T	0.9	0.65058	D	0.12025809	0.28301	0.084023	0.19299	0.12025809	0.28301	0.084023	0.19298	-4.03	0.56657	T	.	.	0.188	0.56111	B	.;.;.;.;.	.;.;.;.;.	2.085458	0.26530	17.15	0.99237256897645565	0.56437	0.63331	0.32056	D	AEFDBCI	0.352737	0.44540	N	-0.323256166146974	0.28268	1.557702	-0.160154875303877	0.33019	1.884466	0.999999974893574	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.26897	0.05253	2	0.714379	0.83352	0	.	.	4.7	4.7	0.58776	2.201000	0.42368	3.899000	0.40339	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.330000	0.25202	0.0:1.0:0.0:0.0	13.517	0.61004	932	0.16191	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1429	79.4	37	chr10	80170869	.	C	T	79.4	.	AC=2;AF=0.143;AN=14;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=19.85;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1229	6	1	0	0
chr10	82985465	82985465	G	A	exonic	NRG3	.	nonsynonymous SNV	NRG3:NM_001010848:exon9:c.G1951A:p.E651K,NRG3:NM_001165972:exon9:c.G1948A:p.E650K,NRG3:NM_001370081:exon9:c.G1951A:p.E651K,NRG3:NM_001370084:exon10:c.G2023A:p.E675K,NRG3:NM_001165973:exon11:c.G1360A:p.E454K,NRG3:NM_001370082:exon11:c.G1384A:p.E462K	.	0	1501	21	0	0	21	0.00694674	.	.	.	590756	Aganglionic_megacolon|not_provided	Human_Phenotype_Ontology:HP:0002029,Human_Phenotype_Ontology:HP:0002030,Human_Phenotype_Ontology:HP:0002251,Human_Phenotype_Ontology:HP:0002606,Human_Phenotype_Ontology:HP:0004391,MONDO:MONDO:0018309,MeSH:D006627,MedGen:C0019569,OMIM:PS142623,Orphanet:388|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.205	.	0.0027	0.00279553	0.0045	0.0007	0.0003	0	0.0032	0.0046	0.0033	0.0125	0.0044178	683	154602	rs138878772	0.0039	0.0039	0.0036	0.0042	0.0115	0.0038	0.0038	0.0109	0.0107	0.0005	0.0006	0	5.042e-05	0.0034	0.0064	0.0038	0.0037	0.0115	0.0029	0.0029	0.0031	0.0027	0.0110	0.0027	0.0026	0.0086	0.0078	0.0006	0.0011	0.0011	0	0	0.0034	0.0102	0.0044	0.0024	0.0110	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.992	0.80445	D	0.000004	0.62929	D	0.059384	0.999899	0.51612	D	0.805	0.20218	L	0.72	0.61677	T	-0.48	0.15578	N	0.828	0.84713	-0.4627	0.69977	T	0.266	0.63716	T	10	0.007925332	0.00180	T	.	.	.	0.205	0.49236	.	.	0.834856894076	0.83328	0.5514219515742674	0.55068	0.497513204881	0.48250	0.756136476994	0.75355	T	0.363865	0.72954	T	-0.130103	0.31479	T	0.0497351	0.73565	D	0.0311681249366389	0.02174	T	0.966353	0.87680	D	0.5113834	0.67760	0.49743262	0.70939	0.44062763	0.63444	0.5353734	0.73152	-3.308	0.15600	T	.	.	0.111	0.53355	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.200304	0.87242	29.2	0.9990169905508256	0.97350	0.91534	0.53731	D	AEFCI	0.799637	0.72584	D	0.764470071845752	0.83843	8.125034	0.7691657279599	0.87581	9.271692	0.295299896882362	0.19131	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.54	5.54	0.82907	6.776000	0.74817	11.816000	0.97088	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.989	0.86219	986	0.02773	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.001359	0.000000	0.000000	0.008621	0.009146	0.007576	0.07143	986.53	43	chr10	82985465	.	G	A	986.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.362;DP=286;ExcessHet=0;FS=6.638;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=2.17;SOR=0.585	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1119	6	0	1	0
chr10	84225438	84225438	C	T	exonic	LRIT2	.	nonsynonymous SNV	LRIT2:NM_001017924:exon1:c.G83A:p.C28Y,LRIT2:NM_001284223:exon1:c.G83A:p.C28Y	.	438	1076	8	0	0	8	0.0037037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.572	.	0.0009	0.00219649	0.0036	0.0007	0.0003	0.0001	0.0238	0.0021	0.0044	0.0071	0.0030659	474	154602	rs12773843	0.0028	0.0028	0.0026	0.0031	0.0082	0.0028	0.0027	0.0077	0.0075	0.0002	0.0002	0.0012	0	0.0261	0.0031	0.0017	0.0025	0.0082	0.0035	0.0035	0.0023	0.0047	0.0075	0.0032	0.0031	0.0055	0.0049	0.0004	0	0.0008	0.0023	0.0004	0.0294	0	0.0021	0.0005	0.0075	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000246	0.46924	D	0.138116	0.993	0.41837	D	2.93	0.84523	M	-1.08	0.77078	T	-8.87	0.97888	D	0.905	0.97317	0.243	0.86630	D	0.543	0.83189	D	10	0.01376605	0.00291	T	.	.	.	0.572	0.82629	.	.	0.548358248517	0.54491	0.9137211227259994	0.91347	0.0199805071901	0.01959	0.361757427454	0.19642	T	0.448833	0.79056	T	0.0209351	0.54508	T	0.262001	0.86187	D	0.058448079270231	0.06923	T	0.745225	0.36553	T	0.9125238	0.92531	0.9152269	0.96060	0.9125238	0.92532	0.9152269	0.96061	-7.12	0.55925	T	.	.	0.465	0.66923	A	.;.	.;.	3.635853	0.51531	23.1	0.99613662772724509	0.74992	0.84372	0.43454	D	AEFGBCI	0.347894	0.44221	N	0.412623189444408	0.62115	4.422271	0.298064421179868	0.55428	3.705682	0.0222135252342156	0.13413	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.87	3.98	0.45383	3.442000	0.52663	2.158000	0.30961	0.599000	0.40250	1.000000	0.71638	0.975000	0.29991	0.958000	0.51230	0.0:0.7373:0.2627:0.0	15.518	0.75572	930	0.16408	.;Proteinase inhibitor I2, Kunitz, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.018939	0.07143	637.63	48	chr10	84225438	.	C	T	637.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.322;DP=221;ExcessHet=0;FS=1.148;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-0.29;SOR=0.976	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1081	6	0	1	0
chr10	84232136	84232136	G	A	exonic	LRIT1	.	nonsynonymous SNV	LRIT1:NM_015613:exon4:c.C1663T:p.R555C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.141902228558	.	.	2.477e-05	0	8.658e-05	0	0	1.502e-05	0	6.066e-05	1.94e-05	3	154602	rs75121307	1.71e-05	1.71e-05	1.089e-05	2.338e-05	8.115e-05	1.174e-05	9.92e-06	3.765e-05	2.662e-05	0	4.472e-05	0	0	0	0	1.259e-05	3.311e-05	8.115e-05	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.0	0.92824	D	0.998	0.73220	D	0.836	0.59919	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.935	0.51832	L	1.16	0.38073	T	-1.38	0.34198	N	0.717	0.71942	-0.7212	0.59404	T	0.202	0.55822	T	10	0.77996993	0.77771	D	0.141902	0.82430	D	0.221	0.51721	0.419	0.46036	0.592368907089	0.58914	0.4003488836497141	0.39949	0.490798061332	0.47791	0.394835025072	0.24348	T	0.060706	0.31460	T	-0.0722669	0.40963	T	-0.160055	0.58347	T	0.851059556007385	0.50257	D	0.731927	0.34732	T	0.2862604	0.51643	0.18898122	0.42219	0.2862604	0.51642	0.18898122	0.42218	-4.618	0.32397	T	.	.	0.147	0.32493	B	.	.	4.769967	0.77205	26.7	0.99939839623557603	0.99767	0.98794	0.86939	D	AEFGBI	0.885924	0.81686	D	0.648620524730479	0.76280	6.457333	0.609792269222227	0.75652	6.348223	0.990152126043238	0.32057	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.49	5.49	0.81022	7.601000	0.82027	8.620000	0.77807	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.731000	0.35132	0.0:0.0:1.0:0.0	18.159	0.89636	925	0.17918	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	529.22	38	chr10	84232136	.	G	A	529.22	.	AC=2;AF=0.143;AN=14;DP=222;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=27.85;SOR=0.793	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	6	1	0	0
chr10	84477585	84477585	A	T	exonic	CCSER2	.	nonsynonymous SNV	CCSER2:NM_001284242:exon6:c.A527T:p.H176L,CCSER2:NM_001284243:exon6:c.A527T:p.H176L,CCSER2:NM_001284240:exon9:c.A2246T:p.H749L,CCSER2:NM_001351290:exon9:c.A2246T:p.H749L,CCSER2:NM_001351292:exon9:c.A2246T:p.H749L,CCSER2:NM_018999:exon9:c.A2246T:p.H749L	.	.	.	.	.	.	.	.	.	.	.	3424804	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.047	0.00558997878865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.864e-07	6.841e-07	0	1.379e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.661e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.02906	T	0.644	0.31833	T	0.0	0.02946	B	0.0	0.01387	B	0.008023	0.31057	N	0.346132	0.995322	0.24655	N	0	0.06538	N	2.3	0.22067	T	-0.08	0.21860	N	0.228	0.25622	-1.0356	0.18668	T	0.027	0.11751	T	10	0.10937789	0.20402	T	0.00559	0.14439	T	0.047	0.12962	0.398	0.42590	0.314417295294	0.31040	0.10066359034609722	0.09997	0.098487829451	0.11135	0.427966058254	0.28930	T	0.006429	0.05862	T	-0.190976	0.22114	T	-0.5121	0.21099	T	0.599383890628815	0.36376	D	0.756924	0.39401	T	0.0670157	0.14475	0.05381785	0.09140	0.0670157	0.14474	0.05381785	0.09139	-4.677	0.35814	T	.	.	0.141	0.38711	B	.;.;.;.;.	.;.;.;.;.	3.578926	0.50445	22.9	0.9280847588704777	0.22333	0.71732	0.35140	D	AEFGBI	0.530898	0.55140	D	-0.248564052662743	0.31160	1.744532	-0.0208455100113593	0.38776	2.28931	0.876378354065913	0.25524	0.706298	0.61202	0	0.633656	0.55848	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.75	4.82	0.61641	3.324000	0.51734	8.405000	0.77114	0.677000	0.82338	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0982:0.0:0.9018:0.0	10.815	0.45772	946	0.12043	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr10	84477585	.	A	T	33.22	.	AC=2;AF=0.143;AN=14;DP=195;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1204	6	1	0	0
chr10	86687073	86687073	G	A	exonic	LDB3	.	nonsynonymous SNV	LDB3:NM_001080116:exon5:c.G349A:p.D117N,LDB3:NM_001080114:exon6:c.G349A:p.D117N,LDB3:NM_001171610:exon6:c.G694A:p.D232N,LDB3:NM_001171611:exon6:c.G694A:p.D232N,LDB3:NM_001368066:exon6:c.G349A:p.D117N,LDB3:NM_001368067:exon6:c.G349A:p.D117N,LDB3:NM_001368068:exon6:c.G349A:p.D117N	Cardiomyopathy, dilated, 1C, with or without LVNC, Autosomal dominant;Cardiomyopathy, hypertrophic, 24, Autosomal dominant;Left ventricular noncompaction 3, Autosomal dominant;Myopathy, myofibrillar, 4, Autosomal dominant	1	1477	41	3	0	47	0.0156614	.	.	.	19772	Cardiovascular_phenotype|not_specified|not_provided|Dilated_cardiomyopathy_1C|Myofibrillar_myopathy_4|Primary_dilated_cardiomyopathy	MedGen:CN230736|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011094,MedGen:C1832244,OMIM:601493,Orphanet:154,Orphanet:54260|MONDO:MONDO:0012277,MedGen:C4721886,OMIM:609452,Orphanet:98912|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.272	.	0.0068	0.00778754	0.0046	0.0154	0.0047	0	0	0.0043	0.0078	0.0031	0.0042173	652	154602	rs121908338	0.0034	0.0034	0.0033	0.0036	0.0354	0.0033	0.0033	0.0314	0.0298	0.0170	0.0061	0.0101	2.519e-05	0.0001	0.0354	0.0028	0.0061	0.0026	0.0071	0.0071	0.0072	0.0070	0.0149	0.0067	0.0066	0.0140	0.0136	0.0149	0	0.0088	0.0092	0.0002	0.0002	0.0850	0.0032	0.0137	0.0033	0.018	0.55530	D	0.412	0.16328	T	0.004	0.41722	B	0.004	0.35687	B	.	.	.	.	0.0310938	0.81001	A	.	.	.	0.89	0.88847	T	-1.19	0.34596	N	0.462	0.63883	-0.5427	0.67062	T	0.220	0.58240	T	9	0.018208385	0.00394	T	.	.	.	0.272	0.58758	.	.	0.782186682139	0.78017	0.5485576590321062	0.54781	0.255360491483	0.28129	.	.	.	.	.	.	-0.375472	0.03326	T	-0.299792	0.44746	T	0.0266292465876057	0.01493	T	0.925707	0.72678	D	.	.	.	.	.	.	.	.	-4.356	0.32744	T	.	.	0.127	0.26917	B	.;.;.;.;.	.;.;.;.;.	2.734197	0.35793	19.99	0.99768232831970494	0.85666	0.99696	0.98747	D	AEFDBIJ	0.955079	0.97266	D	-0.143363625320167	0.35517	2.041124	0.0583927742227106	0.42479	2.570059	0.999999999991715	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.0	4.07	0.46726	6.872000	0.75336	7.421000	0.58716	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8521:0.1478	14.523	0.67449	893	0.26510	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049849	0.116162	0.072011	0.052632	0.000000	0.008621	0.009146	0.000000	0.07143	715.44	39	chr10	86687073	.	G	A	715.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.35;DP=226;ExcessHet=0;FS=4.187;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.89;ReadPosRankSum=-1.09;SOR=0.197	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1368	6	0	1	0
chr10	87232948	87232948	C	T	exonic	NUTM2A	.	nonsynonymous SNV	NUTM2A:NM_001099338:exon5:c.C1697T:p.T566I	.	477	972	70	3	0	76	0.0376238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	0.0259585	0.0194	0.0025	0	0.0685	0.0259	0.0249	0	0	0.0049946	130	26028	rs202126908	0.0012	0.0039	0.0010	0.0013	0.0044	0.0011	0.0011	0.0039	0.0037	0.0008	0.0009	0.0057	0.0044	0.0016	0.0019	0.0008	0.0017	0.0025	0.0033	0.0080	0.0032	0.0034	0.0112	0.0030	0.0029	0.0087	0.0078	0.0032	0.0037	0.0028	0.0142	0.0112	0.0028	0.0043	0.0024	0.0016	0.0032	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.559385	0.11352	N	0.786733	1	0.08975	N	.	.	.	3.4	0.14284	T	4.16	0.00060	N	0.057	0.03175	-0.9445	0.41895	T	0.006	0.02018	T	10	0.0018707514	0.00025	T	.	.	.	0.058	0.16647	.	.	0.043077524339	0.03247	0.011859587337732114	0.01145	.	.	0.664815962315	0.62098	T	0.003499	0.02909	T	-0.256714	0.13287	T	-0.606528	0.12270	T	0.00567222257557896	0.00062	T	0.0425957	0.00300	T	0.019963365	0.00539	0.03269047	0.02043	0.019963365	0.00539	0.03269047	0.02043	3.966	0.00009	T	.	.	0.051	0.00187	B	.;.	.;.	-0.721230	0.01272	0.067	0.74543639528431049	0.10734	0.00003	0.00079	N	AEFI	0.011378	0.00100	N	-1.99035120200077	0.00222	0.009508936	-1.91549691999944	0.00456	0.02018859	1.31856290869846E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.29	1.29	0.20717	0.255000	0.18102	-0.265000	0.10395	-0.628000	0.04523	0.029000	0.20367	0.000000	0.08366	0.396000	0.26692	0.0:0.2359:0.0:0.7641	3.588	0.07525	922	0.19044	Nuclear Testis  protein, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008900	0.011364	0.014085	0.000000	0.000000	0.000000	0.010638	0.000000	0.08333	187.27	20	chr10	87232948	.	C	T	187.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.79;DP=217;ExcessHet=0;FS=26.098;MLEAC=1;MLEAF=0.083;MQ=34.22;MQRankSum=-5.24;QD=3.17;ReadPosRankSum=0.467;SOR=4.784	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	5	0	1	1
chr10	87234346	87234346	C	T	exonic	NUTM2A	.	nonsynonymous SNV	NUTM2A:NM_001099338:exon7:c.C2275T:p.P759S	.	430	1052	40	0	0	40	0.0186567	.	.	.	2334427	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.029	0.00156055519283	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202170952	0.0021	0.0022	0.0016	0.0027	0.0198	0.0021	0.0020	0.0190	0.0187	0.0002	0.0003	4.042e-05	2.773e-05	0.0003	0.0107	0.0010	0.0026	0.0198	0.0011	0.0013	0.0009	0.0014	0.0200	0.0010	0.0009	0.0159	0.0144	0.0003	0	0.0011	0	0	0	0.0120	0.0009	0.0014	0.0200	0.438	0.09319	T	0.233	0.24913	T	0.966	0.56202	D	0.862	0.61339	P	0.067306	0.21750	N	0.396389	1	0.08975	N	.	.	.	2.86	0.10482	T	-3.41	0.67129	D	0.154	0.15888	-1.0194	0.23910	T	0.026	0.11220	T	10	0.010133654	0.00227	T	0.001561	0.02471	T	0.029	0.06676	.	.	0.082315109003	0.07666	0.14299039335390046	0.14222	.	.	0.610876083374	0.54440	T	0.016466	0.13603	T	-0.620574	0.00109	T	-0.648593	0.09052	T	0.0959184643250234	0.11902	T	0.616438	0.23595	T	0.056601197	0.11158	0.073595196	0.16008	0.056601197	0.11157	0.073595196	0.16008	-9.656	0.71826	D	.	.	0.406	0.59920	A	.	.	0.903481	0.12774	9.293	0.93443176978804021	0.23221	0.00076	0.00525	N	AEFI	0.022575	0.01146	N	-0.682267636567769	0.16526	0.842831	-0.921480828877853	0.11588	0.5912465	1.10060064083604E-6	0.01202	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.15	0.176	0.14334	0.256000	0.18120	-20.000000	0.00162	0.337000	0.19705	0.004000	0.16614	0.000000	0.08366	0.193000	0.21690	0.0:0.7201:0.0:0.2799	3.546	0.07383	920	0.19381	Nuclear Testis  protein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	751.53	16	chr10	87234346	.	C	T	751.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.775;DP=192;ExcessHet=0;FS=3.966;MLEAC=1;MLEAF=0.071;MQ=29.94;MQRankSum=-1.568;QD=17.08;ReadPosRankSum=-0.631;SOR=0.231	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1253	6	0	1	0
chr10	87365166	87365166	C	T	exonic	NUTM2D	.	nonsynonymous SNV	NUTM2D:NM_001009610:exon5:c.C1481T:p.T494I,NUTM2D:NM_001382304:exon5:c.C1481T:p.T494I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00223446415924	.	.	0.0002	0.0005	0	0	0	9.204e-05	0	0.0007	3.84e-05	1	26028	rs202099769	0.0009	0.0011	0.0008	0.0011	0.0049	0.0009	0.0009	0.0043	0.0041	0.0009	0.0017	0	0.0049	0.0005	0.0008	0.0006	0.0014	0.0034	0.0020	0.0027	0.0019	0.0021	0.0046	0.0018	0.0017	0.0027	0.0022	0.0017	0	0.0030	0.0003	0.0046	0.0005	0	0.0020	0.0049	0.0033	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.559385	0.11352	N	0.786733	1	0.08975	N	.	.	.	3.41	0.14160	T	3.87	0.00062	N	0.08	0.05542	-0.9422	0.42266	T	0.012	0.04463	T	8	0.0038974881	0.00074	T	0.002234	0.04233	T	0.149	0.39377	.	.	0.0297737177859	0.01360	0.011141069843574544	0.01074	1.9025247855	0.92838	0.515417873859	0.40981	T	0.002252	0.01652	T	-0.226986	0.17050	T	-0.563826	0.16018	T	0.00121378364001231	0.00012	T	0.040196	0.00279	T	0.02891686	0.02304	0.06176681	0.11979	0.02891686	0.02303	0.06176681	0.11978	3.989	0.00009	T	.	.	0.054	0.00309	B	.;.	.;.	-0.802459	0.01102	0.050	0.076090067256528657	0.00046	0.00006	0.00120	N	AEFDI	0.015293	0.00284	N	-1.43597596059633	0.02329	0.1027233	-1.48379537463369	0.02477	0.1139815	8.70893701370907E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.628	0.628	0.16854	0.233000	0.17689	-0.954000	0.06803	-0.920000	0.02202	0.019000	0.19563	0.000000	0.08366	0.578000	0.30845	.	.	.	683	0.59664	Nuclear Testis  protein, N-terminal;Nuclear Testis  protein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	290.39	5	chr10	87365166	.	C	T	290.39	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.308;DP=52;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=38.13;MQRankSum=-0.736;QD=22.34;ReadPosRankSum=-0.743;SOR=1.609	GT:AD:DP:GQ:PL	0/0:6,0:6:18:0,18,196	5	0	1	1
chr10	92340687	92340687	G	A	exonic	MARCHF5	.	nonsynonymous SNV	MARCHF5:NM_017824:exon3:c.G253A:p.V85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	.	.	0.00119808	0.0018	0	0.0152	0	0	4.513e-05	0	0.0022	0.0015136	234	154602	rs189096816	0.0006	0.0006	0.0006	0.0006	0.0112	0.0006	0.0006	0.0104	0.0101	0	0.0112	0	5.048e-05	5.62e-05	0.0007	0.0002	0.0002	0.0019	0.0004	0.0004	0.0004	0.0005	0.0031	0.0004	0.0003	0.0024	0.0022	0	0	0.0031	0	0	0	0	2.94e-05	0.0014	0.0031	0.665	0.04629	T	1.0	0.01155	T	0.002	0.09854	B	0.002	0.06944	B	0.000000	0.84330	D	0.053033	0.999992	0.58761	D	-0.31	0.03598	N	0.91	0.44856	T	0.07	0.06138	N	0.217	0.24260	-1.0491	0.14649	T	0.049	0.20987	T	10	0.0069832206	0.00159	T	.	.	.	0.091	0.26358	.	.	0.23524818089	0.23142	0.6578393417687897	0.65720	0.734059094387	0.62875	0.626781821251	0.56688	T	0.032249	0.22404	T	-0.539581	0.00337	T	-0.536816	0.18611	T	0.0367047541406453	0.03104	T	0.787321	0.42620	T	0.06551405	0.14007	0.11757495	0.28382	0.06551405	0.14007	0.11757495	0.28382	-4.579	0.31907	T	.	.	0.074	0.05274	B	.	.	3.466362	0.48338	22.6	0.96536974306417711	0.30172	0.98334	0.81734	D	AEFGBI	0.641760	0.61898	D	-0.170226056677339	0.34378	1.961494	0.0956883131176414	0.44332	2.716955	0.999999340232262	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	4.981000	0.63540	7.684000	0.65448	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	20.266	0.98462	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1047.45	34	chr10	92340687	.	G	A	1047.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.22;DP=290;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0.414;SOR=0.725	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	6	0	1	0
chr10	93074995	93074995	G	T	exonic	CYP26A1	.	nonsynonymous SNV	CYP26A1:NM_000783:exon3:c.G631T:p.V211L,CYP26A1:NM_057157:exon3:c.G424T:p.V142L	.	418	1096	8	0	0	8	0.00363636	.	.	.	3510367	CYP26A1-related_condition	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.054	0.0164878588491	0.0021	0.000798722	0.0026	0.0006	0.0010	0	0.0023	0.0039	0.0034	0.0013	0.002639	408	154602	rs149343022	0.0035	0.0035	0.0037	0.0034	0.0042	0.0034	0.0034	0.0041	0.0040	0.0004	0.0011	0.0004	0	0.0023	0.0007	0.0042	0.0031	0.0012	0.0030	0.0030	0.0031	0.0030	0.0040	0.0028	0.0027	0.0036	0.0034	0.0009	0.1140	0.0008	0.0003	0.0002	0.0024	0	0.0040	0.0028	0.0006	0.225	0.18626	T	0.697	0.13752	T	0.0	0.02946	B	0.006	0.12133	B	0.000079	0.52346	D	0.130913	0.999699	0.48338	D	1.065	0.27018	L	-0.32	0.68181	T	-0.84	0.22944	N	0.332	0.38129	-1.0057	0.28247	T	0.105	0.38415	T	10	0.008923709	0.00202	T	0.016488	0.37771	T	0.054	0.15330	0.433	0.48336	0.802906345537	0.80106	0.7079102033808276	0.70733	0.211756990206	0.23675	0.488331317902	0.37206	T	0.085587	0.37536	T	-0.393072	0.02569	T	-0.336168	0.40778	T	0.0094072691510376	0.00120	T	0.809419	0.45992	T	0.23904943	0.46790	0.1520672	0.35793	0.23904943	0.46790	0.1520672	0.35792	-5.609	0.42874	T	.	.	0.181	0.49635	B	.;.	.;.	3.264783	0.44665	22.0	0.98157004221277444	0.38738	0.89378	0.49806	D	AEFDBHCI	0.569029	0.57397	D	-0.265998640686952	0.30470	1.699291	-0.0731042014672711	0.36506	2.125417	0.999999671417263	0.74766	0.652421	0.48094	0	0.596491	0.49125	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	5.03	4.13	0.47661	4.761000	0.61939	9.498000	0.80904	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0765:0.1453:0.7782:0.0	9.232	0.36605	781	0.47532	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1297.45	36	chr10	93074995	.	G	T	1297.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.85;DP=309;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=-2.27;SOR=0.655	GT:AD:DP:GQ:PL	0/1:73,52:125:99:1308,0,1891	6	0	1	0
chr10	93316745	93316745	G	T	exonic	MYOF	.	nonsynonymous SNV	MYOF:NM_133337:exon49:c.C5628A:p.D1876E,MYOF:NM_013451:exon50:c.C5667A:p.D1889E	.	428	1083	11	0	0	11	0.00505282	.	.	.	2809471	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.748	0.106290282159	0.0006	0.000998403	0.0016	0.0001	0.0002	0	0	0.0009	0.0056	0.0079	0.0014165	219	154602	rs201166887	0.0008	0.0008	0.0006	0.0011	0.0076	0.0008	0.0008	0.0071	0.0069	5.975e-05	0.0004	0.0128	0	0	0.0019	8.724e-05	0.0017	0.0076	0.0007	0.0007	0.0006	0.0008	0.0062	0.0006	0.0005	0.0045	0.0039	2.409e-05	0	0.0005	0.0138	0	0	0	0.0002	0.0024	0.0062	0.0	0.91255	D	0.0	0.92824	D	0.999	0.90584	D	0.987	0.97372	D	0.000000	0.84330	D	0.000000	0.998721	0.45339	D	3.1	0.87590	M	-1.38	0.80301	T	-3.93	0.73267	D	0.958	0.97095	0.565	0.91439	D	0.702	0.89757	D	10	0.02361074	0.00623	T	0.10629	0.78182	D	0.748	0.91328	0.767	0.89452	0.849338563989	0.84788	0.8348420006525817	0.83443	0.632288125615	0.57165	0.756035029888	0.75339	T	0.688461	0.90919	D	0.0552572	0.59015	T	0.311162	0.88706	D	0.111417805912698	0.13570	T	0.986551	0.95418	D	0.8640678	0.88397	0.77634686	0.86806	0.8640678	0.88399	0.77634686	0.86807	-11.205	0.80770	D	.	.	0.994	0.95728	P	.;.	.;.	2.854161	0.37691	20.6	0.99597680986092485	0.73983	0.91245	0.53145	D	AEFBI	0.464004	0.51268	N	0.388479055655576	0.60797	4.272734	0.240353550552675	0.52103	3.387439	0.999675789187482	0.41644	0.706548	0.73137	0	0.588066	0.40923	0	0.601832	0.32385	0	0.714379	0.83352	0	.	.	5.53	-1.34	0.08665	1.139000	0.31115	0.911000	0.22627	0.676000	0.76740	1.000000	0.71638	0.998000	0.33993	0.999000	0.91618	0.1996:0.0:0.8004:0.0	17.788	0.88454	760	0.50470	.;C2 domain|C2 domain|Ferlin, sixth C2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	527.53	33	chr10	93316745	.	G	T	527.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.555;DP=242;ExcessHet=0;FS=2.035;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.54;ReadPosRankSum=0.383;SOR=0.465	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	6	0	1	0
chr10	94132306	94132306	C	T	exonic	PLCE1	.	stopgain	PLCE1:NM_001165979:exon2:c.C415T:p.R139X,PLCE1:NM_001288989:exon3:c.C1339T:p.R447X,PLCE1:NM_016341:exon3:c.C1339T:p.R447X	Nephrotic syndrome, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1409601	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	8.281e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs781068774	1.094e-05	1.094e-05	1.361e-05	8.25e-06	1.349e-05	6.48e-06	5.24e-06	8.1e-06	6.42e-06	0	0	3.826e-05	0	0	0	1.349e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305688	0.14520	N	0.583037	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.817	0.87481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614224	0.98017	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	8.059080	0.97136	37	0.99828525412940572	0.91026	0.18249	0.20182	N	AEFBI	0.116100	0.22800	N	0.401265679905697	0.61494	4.351086	0.167182190822541	0.48060	3.027099	0.999984653666222	0.51787	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.84	4.84	0.62125	1.220000	0.32095	4.904000	0.45887	0.599000	0.40250	0.047000	0.21291	0.757000	0.26594	0.439000	0.27649	0.1591:0.8409:0.0:0.0	14.195	0.65208	304	0.87780	.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1250.44	36	chr10	94132306	.	C	T	1250.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.17;DP=306;ExcessHet=0;FS=2.44;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=1.17;SOR=0.796	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	6	0	1	0
chr10	94350131	94350131	C	T	exonic	NOC3L	.	nonsynonymous SNV	NOC3L:NM_022451:exon9:c.G1110A:p.M370I	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.0167213400523	0.0017	0.000599042	0.0020	9.61e-05	0.0003	0	0.0054	0.0028	0	0.0007	0.0017141	265	154602	rs149695235	0.0017	0.0017	0.0017	0.0018	0.0026	0.0017	0.0017	0.0016	0.0016	0.0001	0.0006	0.0078	0	0.0047	0.0026	0.0017	0.0020	0.0004	0.0014	0.0014	0.0014	0.0013	0.0017	0.0012	0.0012	0.0015	0.0014	0.0002	0	0.0005	0.0066	0	0.0044	0	0.0017	0.0005	0.0008	0.021	0.49117	D	0.089	0.40426	T	0.391	0.34615	B	0.032	0.22131	B	0.000000	0.84330	D	0.038085	0.999746	0.48716	D	1.81	0.47622	L	1.56	0.29602	T	-1.42	0.34992	N	0.813	0.80866	-0.8548	0.51634	T	0.182	0.53011	T	10	0.016596645	0.00350	T	0.016721	0.38109	T	0.105	0.29889	0.47	0.54376	0.519514513453	0.51594	0.5604774671035463	0.55974	0.101891129517	0.11533	0.712025284767	0.68887	T	0.009988	0.09054	T	-0.334505	0.05778	T	-0.259437	0.48880	T	0.0215046245721942	0.00854	T	0.920008	0.71084	D	0.28023362	0.51071	0.22231494	0.47072	0.28023362	0.51071	0.22231494	0.47071	-4.437	0.30055	T	.	.	0.763	0.75635	P	.	.	3.816558	0.55084	23.6	0.99187028650309128	0.54848	0.97726	0.76690	D	AEFGBI	0.669029	0.63660	D	0.20144773478301	0.51269	3.309543	0.338514129704072	0.57818	3.949142	0.999289095037812	0.39007	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.83	5.83	0.93059	5.772000	0.68543	7.649000	0.63599	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.834000	0.39329	0.0:0.863:0.137:0.0	15.582	0.76198	413	0.81939	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1176.44	33	chr10	94350131	.	C	T	1176.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.016;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=3.31;SOR=0.726	GT:AD:DP:GQ:PL	0/1:38,49:87:99:1187,0,873	6	0	1	0
chr10	94720397	94720397	A	-	exonic	CYP2C18	.	frameshift deletion	CYP2C18:NM_001128925:exon5:c.644delA:p.K216Sfs*13,CYP2C18:NM_000772:exon6:c.821delA:p.K275Sfs*13	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	.	0.0012	0.0006	0.0005	0	0.0036	0.0015	0.0016	0.0006	0.000718	111	154602	rs772763397	0.0011	0.0012	0.0012	0.0011	0.0011	0.0011	0.0011	0.0011	0.0010	0.0001	0.0004	0.0008	0	0.0042	0.0009	0.0011	0.0018	0.0006	0.0008	0.0008	0.0008	0.0008	0.0011	0.0007	0.0006	0.0009	0.0008	0.0002	0	0.0003	0.0014	0	0.0026	0	0.0011	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	244.59	25	chr10	94720396	.	GA	G	244.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.299;DP=179;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=0.211;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1530:.	6	0	1	0
chr10	94720401	94720401	G	T	exonic	CYP2C18	.	nonsynonymous SNV	CYP2C18:NM_001128925:exon5:c.G648T:p.K216N,CYP2C18:NM_000772:exon6:c.G825T:p.K275N	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00252449342534	.	.	0.0010	0.0005	0.0004	0	0.0033	0.0013	0.0013	0.0006	0.0007374	114	154602	rs146257549	0.0012	0.0012	0.0012	0.0011	0.0011	0.0011	0.0011	0.0011	0.0010	0.0001	0.0004	0.0008	0	0.0042	0.0009	0.0011	0.0018	0.0006	0.0008	0.0008	0.0008	0.0008	0.0011	0.0007	0.0006	0.0009	0.0008	0.0002	0	0.0003	0.0014	0	0.0026	0	0.0011	0.0005	0.0002	0.154	0.24277	T	0.101	0.53072	T	0.496	0.37079	P	0.088	0.29688	B	0.000024	0.55875	U	0.067268	1	0.08975	N	1.67	0.42885	L	2.63	0.12884	T	-2.33	0.60188	N	0.267	0.33469	-1.0850	0.06407	T	0.046	0.19800	T	10	0.0081089735	0.00184	T	0.002524	0.05037	T	0.069	0.20116	0.513	0.61153	0.395289904662	0.39143	0.15657930588643143	0.15578	0.0169805560263	0.01642	.	.	.	0.221726	0.58537	T	-0.642375	0.00081	T	-0.745944	0.03646	T	0.0463150292634964	0.04841	T	0.806219	0.45479	T	0.12837441	0.30013	0.12015137	0.28998	0.12837441	0.30013	0.12015137	0.28997	-9.294	0.69570	D	.	.	0.242	0.47632	B	.;.	.;.	0.217476	0.06002	2.443	0.96592215551337524	0.30373	0.08104	0.14073	N	AEFI	0.447038	0.50284	N	-0.683846558632721	0.16482	0.840128	-0.873804220344879	0.12716	0.6557493	5.15279857181578E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.2	-3.12	0.04959	-0.431000	0.07034	-6.558000	0.01366	-0.197000	0.09056	0.000000	0.06391	0.000000	0.08366	0.931000	0.46843	0.1719:0.3009:0.5272:0.0	6.830	0.23085	535	0.73288	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	241.63	31	chr10	94720401	.	G	T	241.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.134;DP=194;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=0.822;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1530:.	6	0	1	0
chr10	94942234	94942234	G	A	exonic	CYP2C9	.	nonsynonymous SNV	CYP2C9:NM_000771:exon3:c.G374A:p.R125H	Tolbutamide poor metabolizer (3);Warfarin sensitivity, Autosomal dominant	0	1513	8	1	0	10	0.00329381	.	.	.	1156516	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.154	.	.	0.00419329	0.0030	9.61e-05	0.0007	0.0001	0	0.0001	0.0011	0.0204	0.0025291	391	154602	rs72558189	0.0012	0.0012	0.0006	0.0018	0.0187	0.0012	0.0012	0.0180	0.0177	0.0002	0.0002	3.827e-05	0.0001	0	0.0007	7.824e-05	0.0011	0.0187	0.0008	0.0008	0.0004	0.0013	0.0207	0.0007	0.0007	0.0175	0.0162	9.622e-05	0	0.0007	0	0.0004	0	0	0.0001	0	0.0207	0.055	0.38407	T	0.044	0.49663	D	0.76	0.43524	P	0.337	0.42281	B	0.000003	0.62929	U	0.000000	0.962905	0.38317	D	3.315	0.90654	M	2.41	0.15492	T	-4.01	0.74193	D	0.373	0.41459	-1.0120	0.26291	T	0.085	0.33269	T	10	0.023801684	0.00634	T	.	.	.	0.154	0.40340	0.808	0.92512	0.523444149082	0.51990	0.14002824384084286	0.13925	0.0167845600176	0.01621	0.317028939724	0.12971	T	0.333519	0.70336	T	-0.455481	0.01048	T	-0.412107	0.31981	T	0.172051280551652	0.18718	T	0.775922	0.48627	T	0.2888983	0.51890	0.22145092	0.46955	0.28631094	0.51647	0.19913037	0.43778	-8.349	0.63425	D	.	.	0.191	0.41063	B	.;.	.;.	2.784903	0.36587	20.3	0.99890628384650026	0.96513	0.85639	0.44793	D	AEFBI	0.904677	0.85527	D	0.108894879081486	0.46877	2.921487	-0.0231754652082611	0.38671	2.28164	2.71044171770123E-4	0.06244	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.34	2.42	0.28720	2.777000	0.47404	0.072000	0.14274	-0.165000	0.11486	0.901000	0.31451	0.000000	0.08366	0.267000	0.23694	0.1232:0.0:0.8768:0.0	8.427	0.31897	736	0.53558	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003181	0.000000	0.001359	0.004098	0.000000	0.000000	0.000000	0.015385	0.07143	2741.44	43	chr10	94942234	.	G	A	2741.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.9;DP=436;ExcessHet=0;FS=3.816;MLEAC=1;MLEAF=0.071;MQ=59.09;MQRankSum=0.558;QD=12.69;ReadPosRankSum=0.658;SOR=0.942	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr10	95684564	95684564	C	T	exonic	TCTN3	.	nonsynonymous SNV	TCTN3:NM_015631:exon9:c.G1030A:p.G344R	Joubert syndrome 18, Autosomal recessive;Orofaciodigital syndrome IV, Autosomal recessive	8	1407	104	3	0	110	0.0376197	.	.	.	207805	not_specified|Orofacial-digital_syndrome_IV|Joubert_syndrome_18|not_provided	MedGen:CN169374|MONDO:MONDO:0009794,MedGen:C0406727,OMIM:258860,Orphanet:2753|MONDO:MONDO:0013896,MedGen:C3553758,OMIM:614815,Orphanet:2754|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.375	.	0.0049	0.00359425	0.0072	0.0012	0.0033	0.0002	0.0070	0.0074	0.0066	0.0167	0.0067464	1043	154602	rs141088838	0.0065	0.0065	0.0062	0.0068	0.0152	0.0064	0.0064	0.0146	0.0143	0.0022	0.0037	0.0099	5.04e-05	0.0096	0.0151	0.0060	0.0074	0.0152	0.0045	0.0045	0.0048	0.0043	0.0133	0.0043	0.0041	0.0107	0.0097	0.0016	0.0088	0.0029	0.0069	0.0006	0.0057	0.0204	0.0059	0.0057	0.0133	0.484	0.08140	T	0.618	0.07741	T	0.006	0.16265	B	0.011	0.15521	B	0.248852	0.03633	N	1.421560	1	0.08975	N	0.675	0.16386	N	-1.51	0.81399	D	-1.25	0.31576	N	0.278	0.32370	-1.0118	0.26353	T	0.056	0.23677	T	10	0.009601146	0.00216	T	.	.	.	0.375	0.69358	0.476	0.55342	0.790772292906	0.78882	0.5454035550696645	0.54466	0.13614919438	0.15352	0.240530341864	0.02838	T	0.163459	0.50852	T	-0.328064	0.06259	T	-0.231693	0.51608	T	0.00183713152993083	0.00019	T	0.687031	0.29593	T	0.049764294	0.08885	0.06339117	0.12551	0.050919995	0.09274	0.058357354	0.10769	-3.4	0.18759	T	0.06951102923013433	0.02612	0.079	0.12750	B	.;.;.;.	.;.;.;.	0.943955	0.13196	9.698	0.79239687288419069	0.12652	0.02608	0.07182	N	AEFBI	0.040571	0.06054	N	-0.568814744440956	0.19897	1.04495	-0.618461886141582	0.19019	1.018611	6.80979325413761E-5	0.04366	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.59	-0.788	0.10387	-0.057000	0.11726	.	.	-0.182000	0.10109	0.059000	0.21734	0.003000	0.18671	0.955000	0.50612	0.0:0.4378:0.2572:0.3049	5.321	0.15186	712	0.56465	Domain of unknown function DUF1619;Domain of unknown function DUF1619;Domain of unknown function DUF1619;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.018649	0.020408	0.016304	0.017544	0.000000	0.000000	0.021341	0.034091	0.1429	922.29	45	chr10	95684564	.	C	T	922.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.29;DP=225;ExcessHet=0.3476;FS=2.83;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=0.395;SOR=0.507	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1034	5	0	2	0
chr10	95693676	95693676	G	A	exonic	TCTN3	.	nonsynonymous SNV	TCTN3:NM_001143973:exon1:c.C224T:p.A75V,TCTN3:NM_015631:exon1:c.C224T:p.A75V	Joubert syndrome 18, Autosomal recessive;Orofaciodigital syndrome IV, Autosomal recessive	9	1406	104	3	0	110	0.0376454	.	.	.	207806	Orofacial-digital_syndrome_IV|Joubert_syndrome_18|not_specified|not_provided	MONDO:MONDO:0009794,MedGen:C0406727,OMIM:258860,Orphanet:2753|MONDO:MONDO:0013896,MedGen:C3553758,OMIM:614815,Orphanet:2754|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.029	.	0.0050	0.00359425	0.0104	0.0005	0.0025	0	0.0126	0.0070	0.0142	0.0174	0.0023544	364	154602	rs41291570	0.0065	0.0062	0.0062	0.0067	0.0151	0.0063	0.0063	0.0144	0.0141	0.0021	0.0038	0.0100	2.798e-05	0.0097	0.0146	0.0059	0.0073	0.0151	0.0045	0.0045	0.0048	0.0043	0.0133	0.0042	0.0041	0.0107	0.0097	0.0015	0.0088	0.0029	0.0069	0.0008	0.0056	0.0204	0.0059	0.0057	0.0133	0.135	0.26192	T	0.284	0.26631	T	0.002	0.12183	B	0.004	0.17743	B	0.695638	0.10137	N	0.851711	1	0.08975	N	1.2	0.30300	L	-1.72	0.83241	D	-1.18	0.30140	N	0.02	0.00445	-1.0142	0.25593	T	0.043	0.18576	T	10	0.00509724	0.00110	T	.	.	.	0.089	0.25827	.	.	0.853917324909	0.85251	0.27649445813637197	0.27562	0.112868008101	0.12739	0.290317267179	0.08968	T	0.003843	0.03252	T	-0.429777	0.01487	T	-0.377798	0.35981	T	0.00188038530215611	0.00019	T	0.70393	0.31793	T	0.027774865	0.02017	0.0480095	0.07041	0.028834157	0.02283	0.03944964	0.04039	-4.12	0.25877	T	0.20698699571383888	0.27655	0.069	0.09045	B	.;.;.;.;.	.;.;.;.;.	1.137991	0.15248	11.71	0.98272581091808886	0.39777	0.00594	0.02659	N	AEFDGBHCI	0.051049	0.08981	N	-0.671870877272385	0.16825	0.8606815	-0.823356092228878	0.13929	0.725252	0.999999999731661	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.54	-0.71	0.10668	0.271000	0.18390	.	.	0.662000	0.56354	0.001000	0.13787	0.001000	0.17328	0.076000	0.17014	0.3648:0.162:0.4732:0.0	4.443	0.11007	714	0.56256	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.022837	0.015957	0.007937	0.026549	0.000000	0.000000	0.027473	0.036585	0.1429	1735.24	61	chr10	95693676	.	G	A	1735.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.274;DP=342;ExcessHet=0.3476;FS=1.877;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.28;ReadPosRankSum=0.868;SOR=0.854	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1253	5	0	2	0
chr10	96157550	96157550	G	A	exonic	ZNF518A	.	nonsynonymous SNV	ZNF518A:NM_001278525:exon6:c.G1228A:p.A410T,ZNF518A:NM_001330732:exon6:c.G1228A:p.A410T,ZNF518A:NM_001330735:exon6:c.G1228A:p.A410T,ZNF518A:NM_001330736:exon6:c.G1228A:p.A410T,ZNF518A:NM_014803:exon6:c.G1228A:p.A410T,ZNF518A:NM_001278524:exon7:c.G1228A:p.A410T,ZNF518A:NM_001330733:exon7:c.G1228A:p.A410T,ZNF518A:NM_001330734:exon7:c.G1228A:p.A410T,ZNF518A:NM_001330737:exon7:c.G1228A:p.A410T,ZNF518A:NM_001330738:exon7:c.G1228A:p.A410T	.	428	1075	18	0	1	19	0.00830258	.	.	.	2809510	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0067	0.00179712	0.0060	0.0008	0.0033	0	0.0041	0.0092	0.0034	0.0021	0.0061836	956	154602	rs61731065	0.0076	0.0076	0.0077	0.0074	0.0120	0.0074	0.0074	0.0097	0.0089	0.0014	0.0044	0.0096	2.519e-05	0.0059	0.0120	0.0085	0.0076	0.0022	0.0060	0.0060	0.0060	0.0060	0.0091	0.0057	0.0056	0.0085	0.0083	0.0013	0.0055	0.0085	0.0092	0	0.0045	0.0068	0.0091	0.0095	0.0019	.	.	.	0.477	0.12002	T	0.007	0.14184	B	0.001	0.04355	B	.	.	.	.	.	.	.	1.245	0.31408	L	.	.	.	.	.	.	0.024	0.00445	.	.	.	.	.	.	.	0.0035986006	0.00065	T	.	.	.	.	.	.	.	0.132336055621	0.12781	0.10398356641864942	0.10328	.	.	0.210404261947	0.00829	T	0.015565	0.13030	T	-0.56618	0.00233	T	-0.575024	0.14992	T	.	.	.	0.524848	0.17228	T	0.022812774	0.00971	0.12382738	0.29854	0.022812774	0.00970	0.12382738	0.29854	-2.943	0.09580	T	.	.	0.078	0.06896	B	.;.;.	.;.;.	0.562004	0.09308	6.087	0.64446507768959549	0.07496	0.15885	0.19128	N	AEFBI	.	.	.	.	.	.	.	.	.	2.65932550847017E-4	0.06244	0.295142	0.05270	0	0.156173	0.03658	0	0.343423	0.05949	0	0.221052	0.04502	0	0.0489367	0.08445	5.93	2.53	0.29594	0.973000	0.29020	0.092000	0.14529	0.676000	0.76740	0.014000	0.18986	0.034000	0.21380	0.455000	0.28006	0.1055:0.0:0.2304:0.6641	7.516	0.26770	514	0.74853	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011078	0.010101	0.016304	0.014620	0.000000	0.008621	0.009146	0.000000	0.07143	1419.49	39	chr10	96157550	.	G	A	1419.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.93;DP=354;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=0.419;SOR=0.649	GT:AD:DP:GQ:PL	0/1:76,53:129:99:1430,0,1821	6	0	1	0
chr10	96158121	96158121	A	C	exonic	ZNF518A	.	nonsynonymous SNV	ZNF518A:NM_001278525:exon6:c.A1799C:p.K600T,ZNF518A:NM_001330732:exon6:c.A1799C:p.K600T,ZNF518A:NM_001330735:exon6:c.A1799C:p.K600T,ZNF518A:NM_001330736:exon6:c.A1799C:p.K600T,ZNF518A:NM_014803:exon6:c.A1799C:p.K600T,ZNF518A:NM_001278524:exon7:c.A1799C:p.K600T,ZNF518A:NM_001278526:exon7:c.A209C:p.K70T,ZNF518A:NM_001330733:exon7:c.A1799C:p.K600T,ZNF518A:NM_001330734:exon7:c.A1799C:p.K600T,ZNF518A:NM_001330737:exon7:c.A1799C:p.K600T,ZNF518A:NM_001330738:exon7:c.A1799C:p.K600T	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.364e-06	0	0	0	0	1.512e-05	0	0	6.5e-06	1	154602	rs782210088	3.422e-06	3.42e-06	1.362e-06	5.503e-06	2.699e-06	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	3.314e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.38016	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	.	.	.	2.28	0.64929	M	.	.	.	.	.	.	0.151	0.22614	.	.	.	.	.	.	.	0.11616114	0.21905	T	.	.	.	.	.	.	.	0.227934060464	0.22382	0.2963148877028601	0.29544	.	.	0.342304885387	0.16782	T	0.097759	0.40091	T	0.0481412	0.58103	T	-0.153139	0.58966	T	.	.	.	0.611339	0.23205	T	0.20407088	0.42505	0.3652987	0.61881	0.20407088	0.42505	0.3652987	0.61881	-2.987	0.10042	T	.	.	0.115	0.23183	B	.;.;.	.;.;.	3.395927	0.47037	22.4	0.83941115502014552	0.15006	0.92161	0.55080	D	AEFBI	.	.	.	.	.	.	.	.	.	0.00610082273179847	0.11127	0.295142	0.05270	0	0.30413	0.05452	0	0.343423	0.05949	0	0.221052	0.04502	0	0.223849	0.31486	5.66	4.52	0.54797	2.805000	0.47636	6.972000	0.57094	0.756000	0.94297	0.992000	0.37556	1.000000	0.68203	0.962000	0.52141	0.8424:0.1576:0.0:0.0	10.886	0.46174	514	0.74853	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1749.44	39	chr10	96158121	.	A	C	1749.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.194;DP=361;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=0.192;SOR=0.707	GT:AD:DP:GQ:PL	0/0:77,0:77:99:0,120,1800	6	0	1	0
chr10	96223879	96223879	C	A	exonic	BLNK	.	nonsynonymous SNV	BLNK:NM_001114094:exon6:c.G472T:p.A158S,BLNK:NM_001258440:exon6:c.G472T:p.A158S,BLNK:NM_001258441:exon6:c.G472T:p.A158S,BLNK:NM_013314:exon6:c.G472T:p.A158S	Agammaglobulinemia 4, Autosomal recessive	6	1478	36	2	0	40	0.0133511	.	.	.	247049	BLNK-related_disorder|not_provided|not_specified|Agammaglobulinemia_4,_autosomal_recessive	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013289,MedGen:C3150752,OMIM:613502	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.032	.	0.0055	0.00299521	0.0055	0.0009	0.0053	0	0.0088	0.0072	0.0110	0.0030	0.005388	833	154602	rs148612299	0.0052	0.0052	0.0050	0.0053	0.0167	0.0051	0.0050	0.0139	0.0129	0.0014	0.0077	0.0353	0	0.0054	0.0167	0.0047	0.0063	0.0033	0.0049	0.0049	0.0047	0.0052	0.0063	0.0046	0.0045	0.0053	0.0049	0.0010	0.0242	0.0063	0.0381	0	0.0083	0.0442	0.0049	0.0081	0.0010	0.552	0.07670	T	0.558	0.10714	T	0.0	0.07471	B	0.003	0.12992	B	0.830031	0.06936	N	1.065940	0.999994	0.08975	N	-0.595	0.02246	N	.	.	.	-0.71	0.20145	N	0.028	0.00618	-0.9360	0.43241	T	0.017	0.06998	T	9	0.002996534	0.00049	T	.	.	.	0.032	0.07718	.	.	0.209943299407	0.20609	0.1276476982693638	0.12690	0.292084130396	0.31614	0.303299188614	0.10895	T	0.296826	0.66944	T	-0.696312	0.00038	T	-0.769115	0.02797	T	0.00258914784501353	0.00027	T	0.531447	0.20104	T	0.038961124	0.05288	0.0503065	0.07868	0.0410187	0.05964	0.04487523	0.05910	-2.947	0.09999	T	.	.	0.065	0.02173	B	.;.;.	.;.;.	-0.616050	0.01528	0.098	0.4530442580867925	0.03546	0.00649	0.02827	N	AEFDBI	0.036936	0.04999	N	-1.70080143896076	0.00839	0.03628185	-1.68879537062121	0.01188	0.0534534	0.936619302429418	0.27262	0.67177	0.52595	0	0.702456	0.74545	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	5.49	-6.93	0.01480	-0.429000	0.07051	-0.222000	0.10754	-0.809000	0.03084	0.000000	0.06391	0.000000	0.08366	0.050000	0.15192	0.1491:0.6322:0.2187:0.0	11.9	0.51959	476	0.77720	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.015121	0.015152	0.023098	0.008772	0.000000	0.017241	0.015337	0.011364	0.1429	2152.34	71	chr10	96223879	.	C	A	2152.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.814;DP=314;ExcessHet=0.3476;FS=4.612;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=1.81;SOR=1.034	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	2	0
chr10	96304553	96304553	C	T	exonic	DNTT	.	nonsynonymous SNV	DNTT:NM_001017520:exon1:c.C56T:p.T19M,DNTT:NM_004088:exon1:c.C56T:p.T19M	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00936320305682	.	.	5.791e-05	0	0	0	0	4.51e-05	0	0.0002	4.53e-05	7	154602	rs756316751	2.531e-05	2.599e-05	2.45e-05	2.613e-05	0.0002	1.868e-05	1.631e-05	0.0002	0.0001	8.961e-05	4.472e-05	0	0	0	0.0002	7.194e-06	4.968e-05	0.0002	7.884e-05	7.88e-05	5.139e-05	0.0001	0.0005	4.496e-05	3.512e-05	0.0002	0.0002	4.826e-05	0	0.0005	0	0	0	0	0	0.0010	0.0002	0.325	0.13349	T	0.278	0.21880	T	0.012	0.18474	B	0.003	0.13708	B	0.115597	0.19228	N	0.613982	1	0.08975	N	-0.18	0.04256	N	2.75	0.11622	T	0.25	0.04456	N	0.132	0.12770	-0.9836	0.34164	T	0.014	0.05369	T	10	0.029586941	0.01085	T	0.009363	0.24553	T	0.024	0.04979	.	.	0.315609569513	0.31162	0.40603856556167794	0.40519	0.100179550336	0.11320	0.255340486765	0.04352	T	0.134179	0.46528	T	-0.580811	0.00190	T	-0.771747	0.02711	T	0.0235517602413893	0.01090	T	0.621638	0.23898	T	0.0934824	0.21958	0.076717794	0.17021	0.0934824	0.21957	0.076717794	0.17021	-5.812	0.44722	T	.	.	0.061	0.02118	B	.;.	.;.	0.656277	0.10244	6.983	0.86016626129593787	0.16259	0.00151	0.00912	N	AEFBI	0.031752	0.03455	N	-1.07830337692149	0.07044	0.3260799	-1.07853108832866	0.08124	0.3980657	0.999621821525452	0.41093	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.76	-0.974	0.09767	0.157000	0.16219	-1.817000	0.04672	0.599000	0.40250	0.043000	0.21118	0.000000	0.08366	0.211000	0.22211	0.0:0.2216:0.0:0.7784	10.425	0.43559	447	0.79583	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	212.63	16	chr10	96304553	.	C	T	212.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.562;DP=158;ExcessHet=0;FS=4.467;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=2.33;SOR=0.525	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,899	6	0	1	0
chr10	99388176	99388176	G	C	exonic	CNNM1	.	nonsynonymous SNV	CNNM1:NM_020348:exon9:c.G2549C:p.S850T,CNNM1:NM_001345887:exon10:c.G2612C:p.S871T	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.320	.	.	0.00439297	0.0031	0	0.0003	0.0001	0	1.51e-05	0.0011	0.0221	0.002639	408	154602	rs374814462	0.0013	0.0013	0.0007	0.0019	0.0208	0.0012	0.0012	0.0200	0.0197	0	4.472e-05	0	2.519e-05	0	0.0005	7.195e-06	0.0009	0.0208	0.0006	0.0006	0.0004	0.0009	0.0193	0.0005	0.0005	0.0161	0.0150	0	0	0	0	0	0	0	4.413e-05	0.0009	0.0193	0.007	0.59928	D	0.047	0.48855	D	0.826	0.45919	P	0.258	0.39350	B	0.000001	0.62929	D	0.000000	0.999312	0.81001	D	2.11	0.58565	M	-1.17	0.78199	T	-0.78	0.21644	N	0.396	0.43706	-0.0211	0.81816	T	0.462	0.79179	T	10	0.006013423	0.00135	T	.	.	.	0.320	0.64215	0.146	0.04941	0.343804874344	0.33996	0.6289054206179322	0.62823	.	.	0.477409720421	0.35701	T	0.008155	0.07505	T	-0.273064	0.11418	T	-0.148758	0.59353	T	0.0998376327233138	0.12340	T	0.874613	0.58533	D	0.32203022	0.54811	0.23087451	0.48202	0.32203022	0.54811	0.23087451	0.48201	-4.382	0.29312	T	.	.	0.083	0.09433	B	.	.	3.905729	0.56920	23.8	0.99402887467484524	0.62887	0.95542	0.65136	D	AEFDBCI	0.901822	0.84899	D	0.424248586183326	0.62758	4.497168	0.453360311381262	0.64932	4.760299	0.999999778554339	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.67	4.67	0.58089	7.819000	0.84757	11.557000	0.93210	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.678000	0.33484	0.0:0.1551:0.8449:0.0	13.550	0.61187	555	0.71762	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	3499.44	33	chr10	99388176	.	G	C	3499.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.048;DP=371;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.33;ReadPosRankSum=0.833;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,91:181:99:0|1:99388176_G_C:3510,0,3473:99388176	6	0	1	0
chr10	99388181	99388181	A	G	exonic	CNNM1	.	nonsynonymous SNV	CNNM1:NM_020348:exon9:c.A2554G:p.S852G,CNNM1:NM_001345887:exon10:c.A2617G:p.S873G	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	.	0.0002	0.00439297	0.0031	9.69e-05	0.0003	0.0001	0	1.509e-05	0.0011	0.0221	0.0026455	409	154602	rs367866402	0.0013	0.0013	0.0007	0.0019	0.0208	0.0012	0.0012	0.0200	0.0197	0	4.472e-05	0	2.519e-05	0	0.0005	7.195e-06	0.0009	0.0208	0.0006	0.0006	0.0004	0.0009	0.0193	0.0005	0.0005	0.0161	0.0149	2.404e-05	0	0	0	0	0	0	4.41e-05	0.0009	0.0193	0.647	0.04897	T	0.397	0.15157	T	0.0	0.02946	B	0.0	0.01387	B	0.033947	0.24832	N	0.298852	1	0.08975	N	0.285	0.10073	N	-1.08	0.77078	T	0.61	0.02480	N	0.081	0.05670	-0.9515	0.40712	T	0.169	0.50939	T	10	0.0030216575	0.00049	T	.	.	.	0.142	0.37995	.	.	0.123314135267	0.11883	0.23625331961114013	0.23540	.	.	0.320609390736	0.13513	T	0.002439	0.01836	T	-0.602617	0.00141	T	-0.622137	0.11018	T	0.00919878803982573	0.00116	T	0.515548	0.16619	T	0.033574402	0.03603	0.048697334	0.07286	0.033574402	0.03603	0.048697334	0.07286	-3.575	0.17496	T	.	.	0.050	0.00154	B	.	.	0.085854	0.04908	1.487	0.59708156384152788	0.06288	0.06949	0.12975	N	AEFDBCI	0.075455	0.15154	N	-1.64704715071549	0.01048	0.04544557	-1.60672452154945	0.01615	0.07327129	0.999265872204443	0.38940	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.67	-2.55	0.05922	0.404000	0.20722	0.125000	0.14969	-1.265000	0.01286	0.001000	0.13787	0.000000	0.08366	0.442000	0.27716	0.7368:0.0:0.2632:0.0	10.001	0.41101	555	0.71762	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	3549.44	33	chr10	99388181	.	A	G	3549.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.324;DP=371;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.29;ReadPosRankSum=0.311;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,93:184:99:0|1:99388176_G_C:3560,0,3489:99388176	6	0	1	0
chr10	101694600	101694600	-	CCT	exonic	FBXW4	.	nonframeshift insertion	FBXW4:NM_022039:exon1:c.505_506insAGG:p.E168_A169insE	.	.	.	.	.	.	.	.	.	.	.	584602	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0048	0.00359425	0	0	0	0	0	0	0	0	0.0001164	18	154602	rs560966094	0.0006	0.0007	0.0007	0.0006	0.0143	0.0006	0.0006	0.0131	0.0127	0.0143	0.0007	0.0001	0.0014	0.0024	0.0009	0.0001	0.0021	0.0004	0.0043	0.0043	0.0042	0.0043	0.0132	0.0040	0.0039	0.0123	0.0119	0.0132	0	0.0024	0	0.0037	0.0012	0.0034	0.0004	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	32.23	22	chr10	101694600	.	G	GCCT	32.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.013;DP=136;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.01;ReadPosRankSum=0.875;SOR=0.188	GT:AD:DP:GQ:PL	0/0:35,0:35:90:0,90,1350	5	0	1	1
chr10	102067202	102067202	G	T	exonic	HPS6	.	nonsynonymous SNV	HPS6:NM_024747:exon1:c.G1728T:p.E576D	Hermansky-Pudlak syndrome 6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.234011822363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.116	0.36497	T	0.974	0.57829	D	0.736	0.55529	P	0.000043	0.53742	D	0.126959	0.764582	0.34078	D	2.2	0.62015	M	-1.3	0.79571	T	-1.98	0.45769	N	0.146	0.14763	0.057	0.83369	D	0.490	0.80604	T	10	0.38225365	0.54282	T	0.234012	0.88391	D	0.325	0.64725	0.195	0.10705	0.878187718299	0.87699	0.39197833937464027	0.39112	1.27320162411	0.82335	0.346680939198	0.17432	T	0.342836	0.71156	T	-0.0250291	0.48134	T	-0.273729	0.47443	T	0.903548955917358	0.55678	D	0.641436	0.25361	T	0.122643106	0.28815	0.11861027	0.28631	0.122643106	0.28815	0.11861027	0.28630	-4.075	0.24920	T	0.13665281020349335	0.14965	0.297	0.52720	B	.	.	2.575836	0.33391	19.32	0.99660283038280895	0.77883	0.89465	0.49947	D	AEFDBCI	0.283395	0.39651	N	0.0404521422861704	0.43706	2.658198	-0.0133504120124776	0.39110	2.314062	0.99988190499861	0.44867	0.695654	0.57023	0	0.685571	0.66316	0	0.723109	0.80598	0	0.662433	0.64102	0	.	.	5.1	2.26	0.27418	1.327000	0.33352	2.124000	0.30738	-0.124000	0.13482	1.000000	0.71638	1.000000	0.68203	0.716000	0.34643	0.3153:0.0:0.6847:0.0	9.418	0.37695	534	0.73357	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	759.63	37	chr10	102067202	.	G	T	759.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.261;DP=243;ExcessHet=0;FS=0.95;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-1.989;SOR=0.538	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1185	6	0	1	0
chr10	102139959	102139959	G	A	exonic	PPRC1	.	nonsynonymous SNV	PPRC1:NM_001288727:exon5:c.G1451A:p.R484H,PPRC1:NM_001288728:exon5:c.G1091A:p.R364H,PPRC1:NM_015062:exon5:c.G1451A:p.R484H	.	420	1100	2	0	0	2	0.000908265	.	.	.	2398659	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.166	0.0553080521589	.	0.000199681	0.0001	0	0.0003	0	0	0.0001	0	0.0002	0.0001617	25	154602	rs200642961	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	5.974e-05	0.0003	0	0	0	0	0.0004	8.279e-05	0.0004	0.0001	0.0001	8.995e-05	0.0002	0.0015	9.737e-05	8.252e-05	0.0007	0.0005	7.217e-05	0	0.0001	0	0	0	0	0.0001	0	0.0015	0.001	0.78490	D	0.111	0.37173	T	0.999	0.77913	D	0.826	0.59373	P	0.061703	0.22151	N	0.434704	0.999844	0.20203	N	1.895	0.50365	L	0.52	0.55266	T	-1.15	0.30964	N	0.168	0.34012	-0.8237	0.53702	T	0.221	0.58459	T	10	0.08367199	0.13944	T	0.055308	0.66184	D	0.166	0.42578	.	.	0.400648398573	0.39681	0.19595792321012287	0.19512	0.426828410224	0.43046	0.399281859398	0.24968	T	0.017259	0.39461	T	-0.259645	0.12941	T	-0.310415	0.43613	T	0.119768297356001	0.14408	T	0.935406	0.77472	D	0.07045124	0.15517	0.06944215	0.14631	0.07045124	0.15517	0.06944215	0.14631	-6.937	0.53573	T	.	.	0.135	0.29228	B	.;.	.;.	4.068055	0.60425	24.2	0.99909401289653355	0.97949	0.66322	0.33038	D	AEFGBCI	0.287733	0.39981	N	0.307737444561502	0.56545	3.819351	0.28655086396114	0.54753	3.639433	0.913352558477186	0.26421	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	3.902000	0.56023	7.563000	0.60525	0.676000	0.76740	0.451000	0.26573	1.000000	0.68203	0.039000	0.14166	0.0:0.1545:0.8455:0.0	13.661	0.61844	666	0.61362	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1446.27	33	chr10	102139959	.	G	A	1446.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.51;DP=281;ExcessHet=0;FS=0.736;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-1.376;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1207	5	0	1	1
chr10	102157434	102157434	T	A	exonic	NOLC1	.	nonsynonymous SNV	NOLC1:NM_001284388:exon4:c.T320A:p.V107E,NOLC1:NM_001284389:exon4:c.T323A:p.V108E,NOLC1:NM_004741:exon4:c.T320A:p.V107E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.0190273949495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.667	0.06386	T	0.148	0.30614	B	0.102	0.37138	B	0.684655	0.10228	N	0.843457	1	0.08975	N	2.175	0.60977	M	0.93	0.44065	T	-0.64	0.18670	N	0.284	0.32921	-0.9372	0.43057	T	0.096	0.36055	T	10	0.07551378	0.11681	T	0.019027	0.41279	T	0.053	0.14996	0.204	0.11936	0.352048277211	0.34822	0.14169985463020598	0.14092	0.16726596523	0.18862	0.340351939201	0.16491	T	0.041303	0.25814	T	-0.167854	0.25559	T	-0.478887	0.24565	T	0.259626686573029	0.23298	T	0.611639	0.24490	T	0.3308217	0.55538	0.15957409	0.37209	0.3308217	0.55538	0.15957409	0.37208	-8.456	0.64137	D	.	.	0.161	0.41511	B	.;.;.	.;.;.	2.160274	0.27519	17.49	0.70022938320465145	0.09160	0.25807	0.22809	N	AEFDBHCI	0.164555	0.29096	N	-0.790595280263692	0.13555	0.6685545	-0.844151915784803	0.13428	0.6965356	0.99991679383662	0.45857	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.92	-0.0138	0.13307	0.067000	0.14378	1.194000	0.24787	-0.124000	0.13482	0.000000	0.06391	0.004000	0.18990	0.420000	0.27228	0.1576:0.2808:0.0:0.5616	3.792	0.08243	645	0.63593	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	783.44	34	chr10	102157434	.	T	A	783.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.723;DP=237;ExcessHet=0;FS=0.975;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.224;SOR=0.518	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,983	6	0	1	0
chr10	102361884	102361884	T	C	exonic	GBF1	.	nonsynonymous SNV	GBF1:NM_001199378:exon14:c.T1658C:p.F553S,GBF1:NM_001199379:exon14:c.T1655C:p.F552S,GBF1:NM_001377137:exon14:c.T1658C:p.F553S,GBF1:NM_001377138:exon14:c.T1655C:p.F552S,GBF1:NM_001377141:exon14:c.T1655C:p.F552S,GBF1:NM_004193:exon14:c.T1655C:p.F552S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.716	0.08398282431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.122e-06	4.104e-06	4.099e-06	4.145e-06	5.41e-06	1.48e-06	9.7e-07	1.95e-06	1.28e-06	0	0	0	0	0	0	5.41e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.22	0.89398	M	-0.39	0.69158	T	-6.7	0.92476	D	0.982	0.99181	0.127	0.84653	D	0.528	0.82472	D	10	0.9131491	0.90678	D	0.083983	0.74230	D	0.716	0.89922	0.75	0.88071	0.912613176182	0.91173	0.7812713683420388	0.78078	1.08455585507	0.77236	0.850644350052	0.89713	D	0.278445	0.65110	T	0.396389	0.89706	D	0.331609	0.89576	D	0.997976362705231	0.92901	D	0.916508	0.70155	D	0.88281	0.89900	0.8551587	0.91851	0.88281	0.89901	0.8551587	0.91852	-12.845	0.88714	D	.	.	0.962	0.88310	P	.	.	4.897675	0.80468	27.3	0.99893871863166983	0.96742	0.90089	0.50997	D	ALL	0.904429	0.85471	D	0.900617876679746	0.91789	11.066	0.885299609517476	0.94900	13.13687	0.999999999494715	0.74766	0.719381	0.83141	0	0.697927	0.68747	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	6.17	6.17	0.99707	7.991000	0.87898	7.866000	0.71703	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.822	0.85699	675	0.60470	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1030.83	33	chr10	102361884	.	T	C	1030.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.144;DP=260;ExcessHet=0;FS=0.777;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=0.051;SOR=0.793	GT:AD:DP:GQ:PL	0/1:47,45:92:99:1041,0,1175	6	0	1	0
chr10	102592582	102592582	A	G	exonic	SUFU	.	nonsynonymous SNV	SUFU:NM_001178133:exon4:c.A455G:p.E152G,SUFU:NM_016169:exon4:c.A455G:p.E152G	Basal cell nevus syndrome, Autosomal dominant;Medulloblastoma, desmoplastic, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	0.0021	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.435	0.103702476502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	0.03984	T	0.825	0.03772	T	0.012	0.18677	B	0.018	0.18489	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-1.4	0.00597	N	-1.44	0.80815	T	1.8	0.01166	N	0.709	0.74098	-0.7994	0.55179	T	0.180	0.52675	T	9	0.50964403	0.62022	D	0.103702	0.77787	D	0.435	0.74022	0.584	0.71118	0.537446701567	0.53396	0.742377973417662	0.74183	0.749724061738	0.63707	0.894293487072	0.95784	D	0.201751	0.55972	T	0.180464	0.72086	D	0.021447	0.71724	D	0.827208995819092	0.48314	D	0.927907	0.75551	D	0.4548381	0.64348	0.34310728	0.60027	0.4548381	0.64348	0.34310728	0.60027	-1.908	0.04249	T	.	.	0.195	0.47901	B	.;.;.	.;.;.	4.209597	0.63584	24.6	0.96946912134434848	0.31719	0.99028	0.90173	D	AEFBI	0.921236	0.89440	D	-0.133290963392124	0.35947	2.071428	0.14350827615708	0.46800	2.920056	0.99999999975338	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	8.947000	0.92735	11.162000	0.87682	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.347	0.74056	712	0.56465	Suppressor of fused-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	35	chr10	102592582	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1096	6	1	0	0
chr10	103443991	103443991	T	G	exonic	PDCD11	.	nonsynonymous SNV	PDCD11:NM_014976:exon34:c.T5201G:p.F1734C	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.637	0.141646973918	.	.	9.092e-05	0	0.0002	0	0	4.518e-05	0	0.0004	7.12e-05	11	154602	rs746500579	4.584e-05	4.583e-05	1.77e-05	7.427e-05	0.0006	3.662e-05	3.348e-05	0.0005	0.0004	0	2.236e-05	0	0	1.872e-05	0.0004	8.094e-06	4.97e-05	0.0006	6.566e-05	6.562e-05	2.57e-05	0.0001	0.0017	3.514e-05	2.615e-05	0.0008	0.0006	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0017	0.003	0.68238	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.615	0.76484	M	0.44	0.56609	T	-4.57	0.78721	D	0.85	0.84609	-0.2914	0.75226	T	0.352	0.71541	T	10	0.6433372	0.69183	D	0.141647	0.82406	D	0.637	0.86130	0.577	0.70217	0.771421751781	0.76932	0.6355052715106795	0.63484	0.953144181106	0.72723	0.730476617813	0.71576	T	0.224677	0.58919	T	0.0714886	0.61029	D	0.181068	0.82055	D	0.650003880487455	0.38462	D	0.741226	0.36032	T	0.7806583	0.82694	0.6754355	0.80942	0.7806583	0.82695	0.6754355	0.80943	-9.217	0.69082	D	.	.	0.649	0.75248	P	.;.	.;.	4.243913	0.64366	24.7	0.99222206331428286	0.55932	0.97904	0.78008	D	AEFDGBCIJ	0.905480	0.85705	D	0.743866619505332	0.82504	7.779129	0.699351536169703	0.82330	7.740222	0.99999999999983	0.74766	0.645754	0.44609	0	0.702456	0.74545	0	0.697927	0.64325	0	0.723	0.93126	0	.	.	5.67	5.67	0.87673	8.017000	0.88732	6.225000	0.55166	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.846000	0.39970	0.0:0.0:0.0:1.0	15.909	0.79242	228	0.91137	.;Suppressor of forked|Tetratricopeptide repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	688.44	35	chr10	103443991	.	T	G	688.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.596;DP=259;ExcessHet=0;FS=1.973;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=-0.579;SOR=0.851	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1460	6	0	1	0
chr10	104124038	104124038	G	A	exonic	SFR1	.	nonsynonymous SNV	SFR1:NM_001002759:exon3:c.G460A:p.A154T,SFR1:NM_001384829:exon3:c.G421A:p.A141T,SFR1:NM_001384830:exon3:c.G421A:p.A141T,SFR1:NM_145247:exon3:c.G421A:p.A141T	.	439	1075	7	1	0	9	0.0041686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00443628000091	.	.	0.0003	0	8.673e-05	0	0	0	0.0011	0.0018	0.000207	32	154602	rs780950370	0.0001	0.0001	4.629e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0.0002	8.994e-07	6.625e-05	0.0023	0.0001	0.0001	1.285e-05	0.0002	0.0031	7.088e-05	5.745e-05	0.0019	0.0015	4.813e-05	0	0	0	0	0	0	0	0	0.0031	0.04	0.42199	D	0.095	0.40426	T	0.001	0.07471	B	0.0	0.01387	B	0.006447	0.32025	N	0.329743	0.999995	0.08975	N	0	0.06538	N	0.95	0.43672	T	-0.04	0.07590	N	0.127	0.12484	-1.0266	0.21560	T	0.045	0.19316	T	10	0.020348698	0.00468	T	0.004436	0.10844	T	0.094	0.27141	0.469	0.54214	0.0401082797425	0.02173	0.04524356319126978	0.04468	0.0171548489881	0.01662	0.332061827183	0.15246	T	0.011403	0.10182	T	-0.630918	0.00094	T	-0.692277	0.06258	T	0.104305808398478	0.12823	T	0.347965	0.07682	T	0.04027278	0.05719	0.07140996	0.15287	0.04027278	0.05719	0.07140996	0.15287	-4.234	0.27527	T	.	.	0.078	0.07083	B	.;.	.;.	2.621299	0.34067	19.52	0.99444654076388084	0.64971	0.87085	0.46520	D	AEFBI	0.176258	0.30346	N	-0.529833710084301	0.21121	1.118533	-0.346192121407375	0.26626	1.471994	0.999292008100656	0.39042	0.660085	0.49399	0	0.662677	0.63036	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	5.72	2.67	0.30756	2.817000	0.47733	3.415000	0.38214	-0.187000	0.09635	0.997000	0.40164	1.000000	0.68203	0.575000	0.30772	0.1524:0.2566:0.591:0.0	7.058	0.24290	42	0.97857	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	727.63	38	chr10	104124038	.	G	A	727.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.885;DP=233;ExcessHet=0;FS=4.231;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=-0.561;SOR=1.367	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1307	6	0	1	0
chr10	104205980	104205980	C	T	exonic	CFAP43	.	nonsynonymous SNV	CFAP43:NM_025145:exon7:c.G946A:p.V316M	.	438	1081	3	0	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0544880947398	0.0002	.	0.0003	0.0001	0.0010	0	0	0.0002	0.0045	0.0003	0.0003169	49	154602	rs145037288	0.0003	0.0003	0.0003	0.0003	0.0006	0.0003	0.0003	0.0004	0.0003	0	0.0006	0	5.053e-05	0	0.0004	0.0004	0.0003	0.0001	0.0001	0.0001	7.711e-05	0.0002	0.0002	7.582e-05	6.286e-05	0.0001	9.899e-05	2.415e-05	0	0.0001	0	0	0	0	0.0002	0.0005	0	0.061	0.37118	T	0.028	0.61642	D	0.01	0.15535	B	0.007	0.12992	B	0.827870	0.09129	N	0.896444	1	0.08975	N	.	.	.	2.43	0.71779	T	-0.02	0.11008	N	0.083	0.25867	-0.8409	0.52587	T	0.236	0.60331	T	10	0.0676834	0.09464	T	0.054488	0.65874	D	0.027	0.05988	.	.	0.0666544352282	0.05500	0.3553788682870235	0.35451	0.133321114024	0.15010	0.335001289845	0.15689	T	0.042834	0.26309	T	-0.418993	0.01736	T	-0.532214	0.19066	T	0.0217214814887951	0.00878	T	0.611339	0.23205	T	0.029603958	0.02482	0.050001226	0.07757	0.030417481	0.02701	0.06825314	0.14230	-4.338	0.28706	T	.	.	0.148	0.32613	B	.;.;.;.	.;.;.;.	0.342199	0.07159	3.741	0.9509993307076311	0.26174	0.00848	0.03390	N	AEFBI	0.050165	0.08742	N	-0.981044823813975	0.09008	0.4246392	-1.04275323156384	0.08858	0.4376519	5.69717695505287E-5	0.04171	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.43	-1.23	0.08977	-2.598000	0.00968	-5.152000	0.01829	-0.835000	0.02838	0.000000	0.06391	0.000000	0.08366	0.771000	0.36558	0.0:0.351:0.0:0.649	8.014	0.29530	197	0.92378	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	410.27	27	chr10	104205980	.	C	T	410.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.776;DP=186;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.73;ReadPosRankSum=0.821;SOR=0.622	GT:AD:DP:GQ:PL	0/1:25,22:47:99:420,0,535	5	0	1	1
chr10	104212153	104212153	C	T	exonic	CFAP43	.	nonsynonymous SNV	CFAP43:NM_025145:exon5:c.G589A:p.V197M	.	432	1070	18	2	0	22	0.0101758	.	.	.	737336	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.098	0.0587313912407	0.0042	0.00339457	0.0039	0.0006	0.0018	0	0.0006	0.0058	0.0022	0.0032	0.0040297	623	154602	rs117768807	0.0050	0.0050	0.0050	0.0050	0.0080	0.0049	0.0049	0.0061	0.0055	0.0006	0.0034	0.0278	2.521e-05	0.0010	0.0080	0.0051	0.0058	0.0036	0.0035	0.0035	0.0039	0.0030	0.0046	0.0032	0.0032	0.0042	0.0040	0.0006	0	0.0046	0.0242	0	0.0011	0.0068	0.0046	0.0052	0.0029	0.003	0.72154	D	0.003	0.76473	D	0.999	0.77913	D	0.973	0.72923	D	0.218985	0.16184	N	0.453907	0.554712	0.32163	D	.	.	.	1.58	0.70365	T	-1.75	0.45949	N	0.595	0.62526	-0.3135	0.74606	T	0.316	0.68566	T	10	0.00836578	0.00190	T	0.058731	0.67421	D	0.098	0.28162	.	.	0.652543851182	0.64965	0.4802863234926715	0.47948	0.488469659113	0.47645	0.424935042858	0.28515	T	0.078936	0.36010	T	-0.367765	0.03708	T	-0.299126	0.44817	T	0.0217730207700796	0.00883	T	0.831417	0.49863	T	0.09003141	0.21053	0.14748919	0.34901	0.10236114	0.24187	0.15738854	0.36803	-4.016	0.24042	T	.	.	0.269	0.50324	B	.;.;.;.	.;.;.;.	2.332787	0.29889	18.26	0.99672182759038686	0.78652	0.23303	0.22032	N	AEFBI	0.052138	0.09278	N	-0.0973471248305819	0.37507	2.183208	-0.259576539825165	0.29442	1.649586	1.43339874387244E-4	0.05573	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.51	2.27	0.27501	0.872000	0.27688	-0.193000	0.11018	0.599000	0.40250	0.518000	0.27096	0.000000	0.08366	0.378000	0.26290	0.0:0.7205:0.0:0.2795	9.092	0.35780	252	0.90114	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006048	0.005051	0.004076	0.008772	0.000000	0.008621	0.012195	0.000000	0.07143	926.44	34	chr10	104212153	.	C	T	926.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.388;DP=307;ExcessHet=0;FS=0.694;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.66;ReadPosRankSum=-0.791;SOR=0.618	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1220	6	0	1	0
chr10	106577484	106577484	G	T	exonic	SORCS1	.	nonsynonymous SNV	SORCS1:NM_052918:exon26:c.C3443A:p.A1148E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.0101619003028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.31682	T	1.0	0.01155	T	0.023	0.18885	B	0.032	0.22131	B	.	.	.	.	1	0.81001	D	0.345	0.11182	N	2.45	0.15028	T	2.17	0.00335	N	0.143	0.14338	-1.0562	0.12724	T	0.034	0.14683	T	8	0.13044164	0.24824	T	0.010162	0.26368	T	0.138	0.37187	0.146	0.04941	0.043077524339	0.03247	0.49267544841862115	0.49188	.	.	.	.	.	0.054091	0.29627	T	-0.14404	0.29248	T	-0.44468	0.28285	T	0.417344349744827	0.29592	T	0.549145	0.18877	T	0.24528234	0.47485	0.48256972	0.70040	0.24528234	0.47485	0.48256972	0.70041	-2.805	0.08230	T	.	.	0.106	0.19559	B	.;.	.;.	3.300547	0.45302	22.1	0.91122369033809825	0.20375	0.51270	0.28856	D	ALL	0.662506	0.63235	D	-0.00763996353340679	0.41508	2.484097	0.213918023484928	0.50619	3.252074	0.999999999999999	0.74766	0.516213	0.21343	1	0.624306	0.53593	0	0.651303	0.49530	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	4.423000	0.59610	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.443	0.90621	783	0.47268	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	99.38	64	chr10	106577484	.	G	T	99.38	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-3.289;DP=461;ExcessHet=0;FS=197.014;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.82;ReadPosRankSum=-0.619;SOR=7.167	GT:AD:DP:GQ:PL	0/0:107,0:107:94:0,94,2810	4	0	1	2
chr10	106577555	106577555	C	A	exonic	SORCS1	.	nonsynonymous SNV	SORCS1:NM_052918:exon26:c.G3372T:p.R1124S,SORCS1:NM_001206572:exon27:c.G3533T:p.G1178V	.	.	.	.	.	.	.	.	0.9925	0.872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	.	.	.	9.928e-05	0	0	0	0	0	0	0.0007	7.76e-05	12	154602	rs751226840	3.292e-05	3.557e-05	1.638e-05	4.962e-05	0.0005	2.55e-05	2.254e-05	0.0004	0.0004	0	0	0	0	0	0	0	1.664e-05	0.0005	1.314e-05	1.313e-05	2.571e-05	0	0.0004	2.18e-06	8.2e-07	7.304e-05	3.034e-05	0	0	0	0	0	0	0	0	0	0.0004	0.022	0.48642	D	0.088	0.40586	T	0.952	0.54136	P	0.562	0.49608	P	.	.	.	.	0.999999	0.81001	D	0.55	0.14455	N	1.55	0.29866	T	-5.31	0.84457	D	0.751	0.75009	-1.1113	0.02960	T	0.091	0.34901	T	8	0.14162964	0.26908	T	0.029903	0.52327	D	0.166	0.42578	0.516	0.61611	0.082315109003	0.07666	0.7652592908143097	0.76474	.	.	.	.	.	0.658582	0.89726	D	-0.397368	0.02409	T	-0.440975	0.28699	T	0.226270214044756	0.21772	T	0.727827	0.34232	T	0.6128197	0.73379	0.53007716	0.72848	0.6128197	0.73380	0.53007716	0.72848	-6.568	0.50808	T	.	.	0.669	0.71693	P	.;.	.;.	5.715315	0.93194	33	0.99679879222339807	0.79174	0.14802	0.18593	N	ALL	0.428941	0.49226	N	0.418932320465736	0.62463	4.462672	0.458814849078937	0.65284	4.804516	0.999999999992464	0.74766	0.500041	0.20204	0	0.624306	0.53593	0	0.459711	0.06710	0	0.564101	0.26826	0	.	.	5.52	4.56	0.55644	2.277000	0.43076	4.827000	0.45167	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1523:0.8477:0.0:0.0	13.839	0.62921	784	0.47045	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	263.63	53	chr10	106577555	.	C	A	263.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.313;DP=253;ExcessHet=0;FS=1.828;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.657;SOR=0.25	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	6	0	1	0
chr10	113577182	113577182	C	T	exonic	HABP2	.	nonsynonymous SNV	HABP2:NM_001177660:exon5:c.C286T:p.R96W,HABP2:NM_004132:exon5:c.C364T:p.R122W	.	421	1097	4	0	0	4	0.00181984	.	.	.	865450	HABP2-related_disorder|Thyroid_cancer,_nonmedullary,_5|Thrombophilia_due_to_thrombin_defect|Factor_VII_Marburg_I_Variant_Thrombophilia	.|MONDO:MONDO:0014682,MedGen:C4225292,OMIM:616535|MONDO:MONDO:0008559,MedGen:C3160733,OMIM:188050|MedGen:CN068943	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.230	0.0323337413745	0.0018	0.000798722	0.0025	0.0007	0.0013	0	0.0012	0.0031	0.0011	0.0041	0.0024062	372	154602	rs78201625	0.0027	0.0027	0.0026	0.0028	0.0047	0.0026	0.0026	0.0043	0.0042	0.0004	0.0010	0.0024	5.04e-05	0.0014	0.0016	0.0029	0.0018	0.0047	0.0018	0.0018	0.0019	0.0017	0.0029	0.0016	0.0015	0.0026	0.0025	0.0004	0	0.0013	0.0023	0	0.0012	0	0.0029	0.0009	0.0027	0.152	0.27544	T	0.038	0.54934	D	0.997	0.70673	D	0.724	0.55036	P	0.117088	0.19167	N	0.566502	0.999999	0.58761	D	2.535	0.73915	M	0.09	0.61443	T	-1.94	0.45042	N	0.41	0.45426	-0.6619	0.62192	T	0.242	0.61036	T	10	0.014141113	0.00298	T	0.032334	0.54190	D	0.230	0.53062	.	.	0.71767939224	0.71519	0.6921587702223854	0.69155	0.0391274229948	0.04164	0.225515067577	0.01653	T	0.103462	0.41213	T	-0.315412	0.07280	T	-0.225714	0.52187	T	0.0377780197700476	0.03294	T	0.810819	0.46223	T	0.13011986	0.30370	0.16661122	0.38482	0.12904038	0.30150	0.15173118	0.35728	-10.309	0.75852	D	.	.	0.133	0.28892	B	.;.	.;.	4.171290	0.62719	24.5	0.99909431311965646	0.97949	0.50528	0.28683	D	AEFBHCI	0.507746	0.53791	D	0.186741802580345	0.50564	3.245059	0.117442191570917	0.45442	2.807213	0.00331410685711217	0.10051	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.65	3.63	0.40741	0.952000	0.28747	2.315000	0.32100	0.599000	0.40250	0.122000	0.23210	0.990000	0.31317	0.994000	0.71098	0.4819:0.5181:0.0:0.0	10.790	0.45627	906	0.23090	.;EGF-like domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	2352.44	34	chr10	113577182	.	C	T	2352.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.49;DP=390;ExcessHet=0;FS=2.379;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=0.045;SOR=0.826	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1270	6	0	1	0
chr10	113908390	113908390	A	G	exonic	NHLRC2	.	nonsynonymous SNV	NHLRC2:NM_198514:exon11:c.A2035G:p.I679V	.	431	1085	6	0	0	6	0.00275735	.	.	.	3210280	NHLRC2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.036	.	0.0006	0.0129792	0.0054	0.0008	0.0030	0.0449	0.0129	0.0019	0.0132	0.0004	0.0051099	790	154602	rs113108393	0.0026	0.0026	0.0027	0.0025	0.0430	0.0025	0.0025	0.0413	0.0406	0.0004	0.0025	0.0055	0.0430	0.0153	0.0007	0.0006	0.0042	0.0010	0.0035	0.0035	0.0030	0.0040	0.0485	0.0032	0.0031	0.0436	0.0417	0.0007	0	0.0013	0.0072	0.0485	0.0125	0	0.0009	0.0028	0.0015	0.487	0.08067	T	0.67	0.06305	T	0.0	0.02946	B	0.0	0.01387	B	0.864185	0.07135	N	1.059570	1	0.08975	N	-1.155	0.00891	N	1.06	0.39781	T	0.15	0.05310	N	0.009	0.00081	-1.0261	0.21723	T	0.006	0.02206	T	10	0.00133425	0.00014	T	.	.	.	0.036	0.09122	.	.	0.18274738541	0.17906	0.12912560568796605	0.12837	0.109512694479	0.12349	0.255413293839	0.04359	T	0.001038	0.00564	T	-0.733225	0.00023	T	-0.791695	0.02118	T	0.00463575380743118	0.00050	T	0.533547	0.17787	T	0.015722707	0.00154	0.028275818	0.01048	0.015722707	0.00153	0.028275818	0.01048	-2.157	0.03837	T	0.06300369559291419	0.01906	0.057	0.00543	B	.	.	-0.951858	0.00842	0.029	0.29695619085243258	0.01588	0.00897	0.03520	N	AEFGBI	0.027545	0.02270	N	-1.35571563892856	0.03066	0.1363866	-1.29362703050689	0.04516	0.2131898	0.375575432442014	0.19911	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.77	-2.6	0.05830	-0.792000	0.04700	-0.638000	0.08091	-0.624000	0.04539	0.000000	0.06391	0.000000	0.08366	0.979000	0.57723	0.5549:0.0:0.4451:0.0	12.757	0.56717	632	0.64850	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.012195	0.000000	0.07143	1815.45	34	chr10	113908390	.	A	G	1815.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.32;DP=367;ExcessHet=0;FS=1.82;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-1.551;SOR=0.632	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1155	6	0	1	0
chr10	114846059	114846059	T	C	exonic	FAM160B1	.	nonsynonymous SNV	FAM160B1:NM_001135051:exon9:c.T1175C:p.I392T,FAM160B1:NM_020940:exon9:c.T1175C:p.I392T	.	433	1080	8	1	0	10	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00340446919696	0.0007	0.00179712	0.0004	0.0030	0.0003	0	0	0.0002	0	0.0002	0.0004398	68	154602	rs141384483	0.0003	0.0003	0.0003	0.0003	0.0041	0.0003	0.0003	0.0036	0.0033	0.0041	0.0003	0	7.557e-05	3.744e-05	0.0016	0.0002	0.0004	0.0002	0.0009	0.0009	0.0011	0.0008	0.0027	0.0008	0.0008	0.0023	0.0021	0.0027	0	0.0003	0	0	9.414e-05	0.0034	0.0003	0.0019	0.0002	0.11	0.29158	T	0.584	0.08390	T	0.036	0.23728	B	0.11	0.31460	B	0.000944	0.40932	D	0.281133	0.574766	0.31149	N	1.24	0.30952	L	1.59	0.28836	T	-0.96	0.26843	N	0.283	0.32037	-1.0579	0.12286	T	0.052	0.22269	T	10	0.008409739	0.00191	T	0.003404	0.07633	T	0.069	0.20116	.	.	0.043077524339	0.03247	0.18014373544763146	0.17933	0.321905203101	0.34388	0.472686350346	0.35050	T	0.038369	0.24814	T	-0.456274	0.01036	T	-0.432798	0.29619	T	0.0106944917323778	0.00150	T	0.886711	0.61387	D	0.043607876	0.06825	0.058518987	0.10825	0.043607876	0.06824	0.058518987	0.10825	-5.371	0.40640	T	.	.	0.061	0.01179	B	.;.	.;.	2.672892	0.34853	19.74	0.97410723195539306	0.33820	0.98246	0.80894	D	AEFBI	0.537354	0.55519	D	-0.0907147984975746	0.37800	2.204368	0.141878285828802	0.46715	2.912881	0.995534384075483	0.34180	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	6.02	6.02	0.97559	4.983000	0.63555	4.213000	0.42544	0.665000	0.62972	1.000000	0.71638	0.859000	0.27469	0.994000	0.71098	0.0:0.0:0.1345:0.8655	12.987	0.57998	925	0.17918	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1447.44	33	chr10	114846059	.	T	C	1447.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.009;DP=315;ExcessHet=0;FS=0.763;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=0.011;SOR=0.606	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr10	117341050	117341050	C	T	exonic	PDZD8	.	nonsynonymous SNV	PDZD8:NM_173791:exon2:c.G925A:p.E309K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.111422988151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.284	0.21411	T	0.104	0.25941	B	0.024	0.20255	B	0.100580	0.19880	N	0.530412	0.918501	0.36608	D	1.04	0.26193	L	-1.98	0.85247	D	-0.39	0.13611	N	0.56	0.58458	-0.3391	0.73870	T	0.434	0.77478	T	10	0.2526929	0.42627	T	0.111423	0.78920	D	0.304	0.62510	0.426	0.47185	0.406687239423	0.40287	0.3484412965450981	0.34758	0.878990842918	0.69697	0.551437139511	0.46060	T	0.004486	0.03887	T	0.0534098	0.58780	T	-0.161057	0.58257	T	0.401935211681401	0.29015	T	0.631737	0.24648	T	0.12929	0.30201	0.1091909	0.26311	0.12929	0.30201	0.1091909	0.26311	-4.196	0.26694	T	.	.	0.138	0.30103	B	.	.	2.876239	0.38048	20.6	0.99707916019332055	0.81143	0.81768	0.41106	D	AEFBI	0.402723	0.47670	N	-0.00176634886459942	0.41776	2.504867	0.196643706894966	0.49661	3.166775	0.999999995606444	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	2.759000	0.47253	7.612000	0.61951	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.630	0.76655	723	0.55174	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	551.54	26	chr10	117341050	.	C	T	551.54	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-2.739;DP=377;ExcessHet=0.4139;FS=327.124;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=2.46;ReadPosRankSum=2.46;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,36:141:99:0|1:117341048_C_T:292,0,3027:117341048	3	0	2	2
chr10	117374710	117374710	T	G	exonic	PDZD8	.	nonsynonymous SNV	PDZD8:NM_173791:exon1:c.A518C:p.E173A	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.108729845372	.	.	0.0001	0	0	0	0	0.0002	0	0.0002	5.17e-05	8	154602	rs747884937	4.744e-05	4.72e-05	3.555e-05	5.945e-05	0.0047	3.813e-05	3.493e-05	0.0033	0.0029	0	4.595e-05	0	2.534e-05	0	0.0047	9.015e-07	9.996e-05	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.052	0.47581	T	0.421	0.35387	B	0.058	0.26451	B	0.022506	0.26620	N	0.264750	0.997104	0.43633	D	1.39	0.34934	L	-2.07	0.85943	D	-1.69	0.40274	N	0.243	0.27435	-0.4305	0.71051	T	0.396	0.74901	T	10	0.13741705	0.26140	T	0.10873	0.78539	D	0.180	0.45073	0.152	0.05544	0.625853619743	0.62280	0.8189421570557286	0.81851	0.901521795493	0.70657	0.668886065483	0.62679	T	0.005803	0.05248	T	-0.238086	0.15593	T	-0.300335	0.44690	T	0.0318067706888914	0.02274	T	0.683732	0.29211	T	0.1096128	0.25914	0.1023334	0.24522	0.1096128	0.25914	0.1023334	0.24522	-2.818	0.08350	T	.	.	0.099	0.16843	B	.	.	3.102591	0.41819	21.4	0.99177186519648353	0.54556	0.83677	0.42779	D	AEFDGBHCI	0.284676	0.39748	N	-0.275770478908955	0.30088	1.674392	-0.271983151202961	0.29024	1.622923	0.999999674095516	0.74766	0.766844	0.99359	0	0.484254	0.07192	0	0.851219	0.99655	0	0.404113	0.06833	1	.	.	4.24	3.06	0.34374	3.903000	0.56031	3.304000	0.37407	0.661000	0.55757	1.000000	0.71638	0.998000	0.33993	0.270000	0.23768	0.0:0.0:0.2193:0.7807	7.524	0.26811	719	0.55657	Synaptotagmin-like mitochondrial-lipid-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1277.46	34	chr10	117374710	.	T	G	1277.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.645;DP=272;ExcessHet=0;FS=0.78;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=0.198;SOR=0.544	GT:AD:DP:GQ:PL	0/1:44,51:95:99:1288,0,1227	6	0	1	0
chr10	119798609	119798609	A	T	exonic	INPP5F	.	nonsynonymous SNV	INPP5F:NM_014937:exon9:c.A1115T:p.Q372L	.	.	.	.	.	.	.	.	0.9999	0.994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.0283437027022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.774	0.03344	T	0.5	0.11190	T	0.005	0.12996	B	0.011	0.15521	B	0.000026	0.55875	D	0.123056	1	0.81001	D	0.97	0.24054	L	0.48	0.55945	T	1.22	0.01051	N	0.674	0.68169	-1.0197	0.23812	T	0.117	0.41142	T	10	0.35837582	0.52531	T	0.028344	0.51038	D	0.200	0.48430	0.694	0.83126	0.344710718752	0.34073	0.7020272450001712	0.70143	0.142115377136	0.16023	0.598823130131	0.52738	T	0.141204	0.47614	T	0.0473413	0.57999	T	-0.169774	0.57463	T	0.861592173576355	0.51196	D	0.856914	0.56210	D	0.1173209	0.27659	0.11815174	0.28522	0.1173209	0.27659	0.11815174	0.28522	-9.356	0.69959	D	.	.	0.100	0.28116	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.956937	0.58003	23.9	0.99509272026930684	0.68499	0.96014	0.67144	D	AEFI	0.678408	0.64278	D	-0.0203694098804973	0.40935	2.43961	0.202575105691978	0.49989	3.195826	0.953671730763058	0.28087	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.87	5.87	0.94266	5.635000	0.67514	11.146000	0.87211	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.147	0.72342	455	0.79073	SAC domain|SAC domain;.;SAC domain|SAC domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	32	chr10	119798609	.	A	T	33.22	.	AC=2;AF=0.143;AN=14;DP=192;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1004	6	1	0	0
chr10	120354721	120354721	G	A	exonic	RPL21	.	nonsynonymous SNV	RPL21:NM_000982:exon1:c.C463T:p.P155S	Hypotrichosis 12, Autosomal dominant	336	1183	1	2	0	5	0.00210881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001358	21	154602	rs879592877	0.0022	0.0020	0.0023	0.0021	0.0057	0.0021	0.0020	0.0036	0.0030	0.0006	0.0005	0.0002	0	0.0008	0.0057	0.0032	0.0022	0.0001	0.0020	0.0020	0.0020	0.0020	0.0037	0.0018	0.0018	0.0033	0.0032	0.0007	0	0.0012	0	0	0.0003	0.0034	0.0037	0.0010	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	98.3	10	chr10	120354721	.	G	A	98.3	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.444;DP=56;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=49.1;MQRankSum=-1.282;QD=12.29;ReadPosRankSum=0.272;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,4:8:99:108,0,110	5	0	1	1
chr10	122216727	122216727	C	T	exonic	TACC2	.	nonsynonymous SNV	TACC2:NM_006997:exon5:c.C1679T:p.T560M,TACC2:NM_206860:exon5:c.C1679T:p.T560M,TACC2:NM_001291878:exon6:c.C1715T:p.T572M,TACC2:NM_001291879:exon7:c.C557T:p.T186M,TACC2:NM_206861:exon8:c.C1883T:p.T628M,TACC2:NM_001291876:exon10:c.C7310T:p.T2437M,TACC2:NM_001291877:exon10:c.C7457T:p.T2486M,TACC2:NM_206862:exon11:c.C7445T:p.T2482M	.	429	1071	21	1	0	23	0.0106236	.	.	.	2809684	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.190	.	0.0055	0.00259585	0.0066	0.0012	0.0037	0	0.0203	0.0084	0.0110	0.0027	0.0062742	970	154602	rs34944231	0.0063	0.0063	0.0064	0.0063	0.0172	0.0062	0.0062	0.0144	0.0134	0.0013	0.0049	0.0115	2.519e-05	0.0190	0.0172	0.0062	0.0071	0.0032	0.0056	0.0056	0.0052	0.0060	0.0085	0.0053	0.0051	0.0073	0.0069	0.0014	0	0.0085	0.0112	0	0.0168	0.0068	0.0060	0.0095	0.0021	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.99	0.78936	D	0.002731	0.36034	N	0.000000	0.707636	0.39464	D	2.045	0.56016	M	3.82	0.20959	T	-3.12	0.82700	D	0.385	0.52119	-1.0425	0.16562	T	0.087	0.33606	T	10	0.008578092	0.00194	T	.	.	.	0.190	0.46781	.	.	0.74928862865	0.74702	0.3135585914688497	0.31268	0.506261591587	0.48838	0.395141631365	0.24391	T	0.254498	0.62516	T	-0.395171	0.02490	T	-0.335847	0.40814	T	0.0202739606712517	0.00727	T	0.980602	0.93511	D	0.17032468	0.37601	0.20229791	0.44251	0.17032468	0.37601	0.20229791	0.44250	-3.892	0.24639	T	.	.	0.108	0.23918	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.806375	0.78151	26.8	0.99906649515995816	0.97726	0.96615	0.70031	D	AEFDBI	0.557772	0.56726	D	0.670355751745337	0.77691	6.723674	0.694043590370746	0.81925	7.642314	0.999999723206218	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	5.395000	0.66037	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:1.0:0.0:0.0	19.719	0.96128	957	0.09725	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.010101	0.009511	0.017544	0.000000	0.017241	0.009146	0.011364	0.1429	217.21	36	chr10	122216727	.	C	T	217.21	.	AC=2;AF=0.143;AN=14;DP=220;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=24.13;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1259	6	1	0	0
chr10	122227937	122227937	G	A	exonic	TACC2	.	nonsynonymous SNV	TACC2:NM_006997:exon8:c.G2059A:p.V687M,TACC2:NM_206860:exon8:c.G2059A:p.V687M,TACC2:NM_001291878:exon9:c.G2095A:p.V699M,TACC2:NM_001291879:exon10:c.G937A:p.V313M,TACC2:NM_206861:exon11:c.G2263A:p.V755M,TACC2:NM_001291876:exon13:c.G7690A:p.V2564M,TACC2:NM_001291877:exon13:c.G7837A:p.V2613M,TACC2:NM_206862:exon14:c.G7825A:p.V2609M	.	429	1090	3	0	0	3	0.00137426	.	.	.	2672914	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.048	0.0118040479916	.	.	4.121e-05	0	0	0	0	7.499e-05	0	0	3.23e-05	5	154602	rs200541273	4.994e-05	4.994e-05	4.084e-05	5.913e-05	2.987e-05	4.059e-05	3.734e-05	9.31e-06	7.61e-06	2.987e-05	0	0.0017	0	0	0	1.529e-05	0.0002	1.159e-05	2.627e-05	2.626e-05	2.568e-05	2.689e-05	.	8.14e-06	5.14e-06	.	.	0	0	0	0.0012	0	0	0	0	0	0	0.002	0.72154	D	0.049	0.58089	D	0.429	0.43409	B	0.27	0.41633	B	0.337495	0.14016	N	0.533387	0.990594	0.27459	N	1.39	0.34934	L	3.95	0.18570	T	-1.13	0.30762	N	0.302	0.34336	-1.0707	0.09260	T	0.032	0.13592	T	10	0.009913832	0.00222	T	0.011804	0.29782	T	0.048	0.13305	0.132	0.03662	0.319686207203	0.31575	0.13741907348314877	0.13665	0.240167342679	0.26565	0.333066642284	0.15397	T	0.035837	0.23874	T	-0.284258	0.10222	T	-0.538436	0.18450	T	0.0725953248392799	0.09010	T	0.972203	0.89922	D	0.061629355	0.12783	0.08979402	0.21019	0.061629355	0.12782	0.08979402	0.21018	-5.123	0.39165	T	.	.	0.096	0.17953	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.086137	0.26537	17.15	0.98423824042551211	0.41320	0.21517	0.21429	N	AEFGBI	0.109281	0.21710	N	-0.607417867436289	0.18720	0.9741876	-0.555180450611674	0.20668	1.114601	0.657845636368872	0.22238	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.25	3.37	0.37692	-0.340000	0.07868	.	.	-0.120000	0.14102	0.192000	0.24212	0.998000	0.33993	0.964000	0.52637	0.0:0.2515:0.4596:0.2889	8.779	0.33938	951	0.11083	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1429	157.25	33	chr10	122227937	.	G	A	157.25	.	AC=2;AF=0.143;AN=14;DP=209;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=26.21;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1322	6	1	0	0
chr10	122397939	122397939	C	T	exonic	PLEKHA1	.	nonsynonymous SNV	PLEKHA1:NM_001001974:exon3:c.C163T:p.R55C,PLEKHA1:NM_001377237:exon3:c.C163T:p.R55C,PLEKHA1:NM_001377241:exon3:c.C163T:p.R55C,PLEKHA1:NM_001377245:exon3:c.C163T:p.R55C,PLEKHA1:NM_001377250:exon3:c.C163T:p.R55C,PLEKHA1:NM_001377252:exon3:c.C163T:p.R55C,PLEKHA1:NM_001377258:exon3:c.C163T:p.R55C,PLEKHA1:NM_001195608:exon4:c.C163T:p.R55C,PLEKHA1:NM_001330178:exon4:c.C163T:p.R55C,PLEKHA1:NM_001377230:exon4:c.C163T:p.R55C,PLEKHA1:NM_001377235:exon4:c.C163T:p.R55C,PLEKHA1:NM_001377238:exon4:c.C163T:p.R55C,PLEKHA1:NM_001377240:exon4:c.C163T:p.R55C,PLEKHA1:NM_001377244:exon4:c.C163T:p.R55C,PLEKHA1:NM_001377246:exon4:c.C163T:p.R55C,PLEKHA1:NM_001377247:exon4:c.C163T:p.R55C,PLEKHA1:NM_001377248:exon4:c.C163T:p.R55C,PLEKHA1:NM_001377251:exon4:c.C163T:p.R55C,PLEKHA1:NM_001377253:exon4:c.C163T:p.R55C,PLEKHA1:NM_001377255:exon4:c.C163T:p.R55C,PLEKHA1:NM_001377256:exon4:c.C37T:p.R13C,PLEKHA1:NM_001377257:exon4:c.C163T:p.R55C,PLEKHA1:NM_021622:exon4:c.C163T:p.R55C,PLEKHA1:NM_001377232:exon5:c.C163T:p.R55C,PLEKHA1:NM_001377234:exon5:c.C163T:p.R55C,PLEKHA1:NM_001377242:exon5:c.C163T:p.R55C,PLEKHA1:NM_001377243:exon5:c.C163T:p.R55C,PLEKHA1:NM_001377254:exon5:c.C163T:p.R55C,PLEKHA1:NM_001377231:exon6:c.C163T:p.R55C	.	458	1062	2	0	0	2	0.000940734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.00477837999172	.	0.000399361	0.0003	9.641e-05	0.0003	0	0	0.0003	0	0.0007	0.0002717	42	154602	rs201098598	0.0003	0.0003	0.0003	0.0003	0.0047	0.0003	0.0003	0.0033	0.0029	0.0004	0.0002	0.0018	2.529e-05	0	0.0047	0.0003	0.0006	0.0004	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0001	0.0003	0	0.0003	0.0017	0	0	0.0034	0.0002	0.0009	0.0002	0.108	0.29420	T	0.127	0.35082	T	0.001	0.07471	B	0.005	0.11217	B	0.005671	0.32605	N	0.387251	0.97433	0.39096	D	-0.205	0.04094	N	-0.95	0.75438	T	-0.31	0.12472	N	0.152	0.23253	-0.9481	0.41296	T	0.129	0.43867	T	10	0.021756291	0.00527	T	0.004778	0.11941	T	0.145	0.38592	.	.	0.736837811065	0.73448	0.7112416644961221	0.71066	0.48631410759	0.47495	0.575533866882	0.49457	T	0.279403	0.65208	T	-0.344987	0.05051	T	-0.383895	0.35267	T	0.0163844592026481	0.00406	T	0.906909	0.67118	D	0.052979715	0.09959	0.051879067	0.08436	0.052979715	0.09959	0.051879067	0.08436	-8.6	0.67077	D	.	.	0.091	0.18372	B	.;.;.;.;.;.	.;.;.;.;.;.	3.629192	0.51397	23.1	0.98324305298743953	0.40270	0.80042	0.39788	D	AEFBI	0.147330	0.27097	N	-0.414022139460929	0.24976	1.352543	-0.155575907890853	0.33195	1.896295	0.829008693813359	0.24659	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.41	4.51	0.54589	1.186000	0.31687	.	.	0.599000	0.40250	0.933000	0.32380	0.999000	0.35428	1.000000	0.97212	0.0:0.8431:0.0:0.1569	9.764	0.39719	964	0.07719	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.002924	0.000000	0.017241	0.000000	0.000000	0.07143	194.63	24	chr10	122397939	.	C	T	194.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.927;DP=167;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.95;ReadPosRankSum=2.04;SOR=0.838	GT:AD:DP:GQ:PL	0/0:21,0:21:63:0,63,625	6	0	1	0
chr10	122631872	122631872	C	T	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon34:c.C4093T:p.P1365S,DMBT1:NM_017579:exon46:c.C5947T:p.P1983S,DMBT1:NM_001320644:exon47:c.C5977T:p.P1993S,DMBT1:NM_007329:exon47:c.C5977T:p.P1993S,DMBT1:NM_001377530:exon50:c.C6364T:p.P2122S	.	411	1106	5	0	0	5	0.0022553	.	.	.	737389	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.006	0.00133183655001	0.0008	0.000998403	0.0012	0.0002	0.0007	0	0	0.0019	0.0022	0.0004	0.0011061	171	154602	rs189862352	0.0008	0.0008	0.0007	0.0008	0.0177	0.0007	0.0007	0.0149	0.0139	0.0003	0.0012	0.0083	0	9.363e-05	0.0177	0.0005	0.0016	0.0006	0.0006	0.0006	0.0006	0.0007	0.0009	0.0005	0.0005	0.0005	0.0004	0.0002	0	0.0009	0.0081	0	0	0.0068	0.0006	0.0009	0.0008	0.336	0.28520	T	0.253	0.23501	T	0.097	0.25541	B	0.099	0.30579	B	.	.	.	.	1	0.08975	N	0.72	0.18721	N	1.89	0.24656	T	-1.67	0.39887	N	0.204	0.22614	-0.9772	0.35638	T	0.032	0.13592	T	9	0.0036647618	0.00067	T	0.001332	0.01885	T	0.006	0.00375	.	.	0.143124449307	0.13826	0.3593714767669015	0.35851	0.151937623519	0.17149	0.22824755311	0.01841	T	0.029273	0.21013	T	-0.658882	0.00064	T	-0.775562	0.02590	T	0.00140085972303628	0.00014	T	0.315568	0.06252	T	0.020081563	0.00554	0.040454477	0.04376	0.020081563	0.00554	0.040454477	0.04375	-3.937	0.22858	T	.	.	0.073	0.06710	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.731160	0.01250	0.064	0.32069138688701071	0.01839	0.00269	0.01464	N	AEFBI	0.041563	0.06335	N	-1.72593763727459	0.00753	0.03254914	-1.83717699914581	0.00647	0.02877756	0.999717407815277	0.42101	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.07	-5.86	0.02114	-1.375000	0.02670	.	.	-1.105000	0.01501	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5678:0.1788:0.0:0.2533	4.085	0.09417	571	0.70397	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.016113	0.025253	0.009511	0.038012	0.000000	0.034483	0.006098	0.000000	0.07143	665.49	33	chr10	122631872	.	C	T	665.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.664;DP=242;ExcessHet=0;FS=4.722;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=-0.62;SOR=0.979	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1172	6	0	1	0
chr10	122833698	122833698	C	T	exonic	CUZD1	.	nonsynonymous SNV	CUZD1:NM_022034:exon8:c.G1625A:p.R542K	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00545657802026	0.0002	0.000199681	0.0006	0	8.639e-05	0.0016	0.0027	0.0005	0	0.0003	0.0004592	71	154602	rs144406058	0.0003	0.0003	0.0003	0.0003	0.0015	0.0003	0.0003	0.0012	0.0011	2.988e-05	0	0.0005	0.0015	0.0022	0.0002	0.0002	0.0005	0.0004	0.0004	0.0004	0.0003	0.0006	0.0017	0.0003	0.0003	0.0009	0.0007	0	0	0	0.0012	0.0017	0.0024	0	0.0004	0.0005	0.0006	0.102	0.30235	T	0.26	0.23029	T	0.068	0.23728	B	0.014	0.16862	B	0.039019	0.24219	N	0.463064	1	0.08975	N	2.015	0.55033	M	1.1	0.39050	T	-0.32	0.12283	N	0.126	0.11912	-1.0202	0.23649	T	0.055	0.23262	T	10	0.004857838	0.00104	T	0.005457	0.14045	T	0.024	0.04979	.	.	0.36355261348	0.35965	0.1987745128889033	0.19794	0.0645436709737	0.07206	.	.	.	0.059891	0.31238	T	-0.53029	0.00382	T	-0.547732	0.17545	T	0.0184819307307244	0.00564	T	0.537746	0.18100	T	0.093723334	0.22019	0.07751926	0.17277	0.093723334	0.22019	0.07751926	0.17277	-3.075	0.11011	T	.	.	0.08	0.07793	B	.;.	.;.	1.518560	0.19502	14.29	0.95991941580403084	0.28388	0.06414	0.12418	N	AEFBI	0.068384	0.13489	N	-0.748470824154182	0.14675	0.733019	-0.668358340746405	0.17754	0.9454264	0.0048870964803403	0.10750	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.528226	0.09195	0	.	.	5.1	2.05	0.25860	-0.559000	0.06062	.	.	0.599000	0.40250	0.000000	0.06391	0.768000	0.26677	0.954000	0.50415	0.0:0.5793:0.1374:0.2834	6.127	0.19405	955	0.09969	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1189.63	33	chr10	122833698	.	C	T	1189.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.475;DP=259;ExcessHet=0;FS=1.829;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-2.076;SOR=0.954	GT:AD:DP:GQ:PL	0/1:36,50:86:99:1200,0,848	6	0	1	0
chr10	122841248	122841248	T	C	exonic	CUZD1	.	nonsynonymous SNV	CUZD1:NM_022034:exon2:c.A163G:p.S55G	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0005	0.00259585	0.0020	0.0002	0.0003	0.0170	0.0054	0.0007	0.0011	0.0008	0.0018046	279	154602	rs141881176	0.0009	0.0009	0.0009	0.0009	0.0137	0.0008	0.0008	0.0127	0.0123	5.975e-05	0.0002	0.0005	0.0137	0.0046	0.0002	0.0002	0.0020	0.0014	0.0013	0.0013	0.0009	0.0017	0.0156	0.0011	0.0011	0.0129	0.0119	0.0001	0	0.0003	0.0012	0.0156	0.0045	0	0.0005	0.0019	0.0027	0.039	0.42487	D	0.051	0.47828	T	0.019	0.17989	B	0.024	0.20255	B	0.088612	0.02431	N	1.962370	1	0.08975	N	0.935	0.23595	L	1.35	0.34648	T	-0.2	0.10136	N	0.127	0.12055	-0.9766	0.35772	T	0.042	0.18076	T	10	0.003978342	0.00077	T	.	.	.	0.034	0.08419	.	.	0.371344866733	0.36741	0.21859629201676883	0.21775	0.0788483161384	0.08873	.	.	.	0.049768	0.28402	T	-0.616603	0.00115	T	-0.644204	0.09365	T	0.0116667562601844	0.00178	T	0.471453	0.13989	T	0.05675521	0.11207	0.07873136	0.17660	0.05675521	0.11207	0.07873136	0.17659	-2.626	0.06703	T	.	.	0.09	0.12607	B	.;.	.;.	0.792409	0.11628	8.215	0.9749633516365126	0.34272	0.02118	0.06262	N	AEFGBI	0.065849	0.12864	N	-1.07630793989911	0.07082	0.3279443	-1.08300120001307	0.08035	0.393328	0.988875390907366	0.31655	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.57	-4.03	0.03752	-0.663000	0.05398	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.860000	0.40782	0.0:0.5035:0.0:0.4965	13.547	0.61169	925	0.17918	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1086.53	33	chr10	122841248	.	T	C	1086.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.711;DP=267;ExcessHet=0;FS=2.783;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-1.822;SOR=0.821	GT:AD:DP:GQ:PL	0/1:43,47:90:99:1097,0,945	6	0	1	0
chr10	122983003	122983003	G	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon2:c.G487C:p.V163L,PSTK:NM_153336:exon2:c.G487C:p.V163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.00704594610802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.48642	T	0.192	0.33554	T	0.004	0.12183	B	0.022	0.19653	B	0.000010	0.62929	D	0.064498	0.958085	0.38057	D	1.76	0.45711	L	2.91	0.10008	T	-0.84	0.22944	N	0.669	0.67736	-1.0661	0.10293	T	0.029	0.12585	T	10	0.50841606	0.61954	D	0.007046	0.18676	T	0.217	0.51112	0.724	0.85850	0.349647731962	0.34572	0.6258530157450021	0.62518	0.263583704205	0.28913	0.645784556866	0.59386	T	0.019375	0.15446	T	-0.000810022	0.51544	T	-0.23894	0.50901	T	0.890971660614014	0.54186	D	0.877812	0.59215	D	0.22272539	0.44877	0.21593522	0.46201	0.22272539	0.44877	0.21593522	0.46200	-10.869	0.78934	D	.	.	0.647	0.71035	P	.;.;.	.;.;.	3.675766	0.52298	23.2	0.99376505445614849	0.61671	0.97325	0.74040	D	AEFBI	0.695338	0.65404	D	-0.0452252440071354	0.39816	2.354205	0.149695039779814	0.47125	2.947556	0.999999870920904	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.097000	0.71099	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.179	0.81701	926	0.17793	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	180.29	52	chr10	122983003	.	G	C	180.29	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.551;DP=476;ExcessHet=3.1439;FS=169.002;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=0.185;SOR=10.163	GT:AD:DP:GQ:PL	0/1:62,23:103:12:12,0,942	2	0	4	1
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S,CTBP2:NM_022802:exon9:c.A2933G:p.N978S,CTBP2:NM_001321013:exon10:c.A1313G:p.N438S,CTBP2:NM_001083914:exon11:c.A1313G:p.N438S,CTBP2:NM_001290214:exon11:c.A1313G:p.N438S,CTBP2:NM_001290215:exon11:c.A1313G:p.N438S,CTBP2:NM_001321012:exon11:c.A1313G:p.N438S,CTBP2:NM_001321014:exon11:c.A1313G:p.N438S,CTBP2:NM_001329:exon11:c.A1313G:p.N438S	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	5111.58	74	chr10	124989543	.	T	C	5111.58	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-2.47;DP=632;ExcessHet=8.2628;FS=5.084;MLEAC=6;MLEAF=0.429;MQ=49.7;MQRankSum=-8.248;QD=8.28;ReadPosRankSum=0.054;SOR=0.385	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,38:140:99:0|1:124989533_G_A:1256,0,4006:124989533	1	0	6	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36,CTBP2:NM_022802:exon9:c.2911delC:p.Q971Sfs*36,CTBP2:NM_001321013:exon10:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001083914:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290214:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290215:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321012:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321014:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001329:exon11:c.1291delC:p.Q431Sfs*36	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1928.55	63	chr10	124989564	.	TG	T	1928.55	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-3.034;DP=665;ExcessHet=8.2628;FS=4.831;MLEAC=6;MLEAF=0.429;MQ=51.84;MQRankSum=-7.441;QD=3.07;ReadPosRankSum=-2.098;SOR=0.329	GT:AD:DP:GQ:PL	0/1:127,27:154:99:521,0,4298	1	0	6	0
chr10	124989579	124989579	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1481G:p.A494G,CTBP2:NM_022802:exon9:c.C2897G:p.A966G,CTBP2:NM_001321013:exon10:c.C1277G:p.A426G,CTBP2:NM_001083914:exon11:c.C1277G:p.A426G,CTBP2:NM_001290214:exon11:c.C1277G:p.A426G,CTBP2:NM_001290215:exon11:c.C1277G:p.A426G,CTBP2:NM_001321012:exon11:c.C1277G:p.A426G,CTBP2:NM_001321014:exon11:c.C1277G:p.A426G,CTBP2:NM_001329:exon11:c.C1277G:p.A426G	.	436	984	100	2	0	104	0.0501931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523	0.0686986444289	.	.	.	.	.	.	.	.	.	.	6.47e-05	10	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.68238	D	0.102	0.48594	T	0.939	0.77913	P	0.656	0.73362	P	0.001392	0.39175	N	0.252302	0.999998	0.58761	D	1.975	0.53506	M	-1.82	0.85003	D	-1.94	0.45042	N	0.486	0.62781	0.438	0.89660	D	0.671	0.88602	D	10	0.37102997	0.53476	T	0.068699	0.70524	D	0.523	0.79765	0.146	0.04941	0.760411053773	0.75822	0.4168685752787953	0.41602	1.88731367476	0.92685	0.701414048672	0.67348	T	0.299078	0.67161	T	0.208989	0.74736	D	0.0624214	0.74406	D	0.93170565366745	0.59725	D	0.741926	0.36245	T	0.23596977	0.46441	0.21558693	0.46153	0.23596977	0.46441	0.21558693	0.46152	-4.06	0.25701	T	.	.	0.324	0.54775	B	.;.;.;.;.;.	.;.;.;.;.;.	5.064118	0.84424	28.3	0.99719618450600933	0.81914	0.96716	0.70558	D	AEFDGBCI	0.937767	0.93600	D	0.680611287748224	0.78361	6.856259	0.718927581574258	0.83819	8.122182	1.0	0.98316	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	9.506000	0.96988	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	18.759	0.91807	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	97.02	60	chr10	124989579	.	G	C	97.02	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.474;DP=673;ExcessHet=0.3476;FS=4.592;MLEAC=1;MLEAF=0.083;MQ=54.3;MQRankSum=-6.369;QD=0.36;ReadPosRankSum=-2.264;SOR=0.374	GT:AD:DP:GQ:PL	0/1:138,17:155:99:105,0,3647	4	0	2	1
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H,CTBP2:NM_022802:exon5:c.A2380C:p.N794H,CTBP2:NM_001321013:exon6:c.A760C:p.N254H,CTBP2:NM_001083914:exon7:c.A760C:p.N254H,CTBP2:NM_001290214:exon7:c.A760C:p.N254H,CTBP2:NM_001290215:exon7:c.A760C:p.N254H,CTBP2:NM_001321012:exon7:c.A760C:p.N254H,CTBP2:NM_001321014:exon7:c.A760C:p.N254H,CTBP2:NM_001329:exon7:c.A760C:p.N254H	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3134.26	98	chr10	124994489	.	T	G	3134.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.89;DP=858;ExcessHet=8.2628;FS=29.968;MLEAC=6;MLEAF=0.5;MQ=58.08;MQRankSum=-6.558;QD=3.87;ReadPosRankSum=-4.084;SOR=3.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,36:186:99:0|1:124994489_T_G:1060,0,6150:124994489	0	0	6	1
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y,CTBP2:NM_022802:exon5:c.C2368T:p.H790Y,CTBP2:NM_001321013:exon6:c.C748T:p.H250Y,CTBP2:NM_001083914:exon7:c.C748T:p.H250Y,CTBP2:NM_001290214:exon7:c.C748T:p.H250Y,CTBP2:NM_001290215:exon7:c.C748T:p.H250Y,CTBP2:NM_001321012:exon7:c.C748T:p.H250Y,CTBP2:NM_001321014:exon7:c.C748T:p.H250Y,CTBP2:NM_001329:exon7:c.C748T:p.H250Y	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3924.26	101	chr10	124994501	.	G	A	3924.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.105;DP=905;ExcessHet=8.2628;FS=37.587;MLEAC=6;MLEAF=0.5;MQ=57.54;MQRankSum=-6.141;QD=4.68;ReadPosRankSum=-2.339;SOR=3.323	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,41:192:99:0|1:124994489_T_G:1263,0,6197:124994489	0	0	6	1
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q,CTBP2:NM_022802:exon5:c.T2364A:p.H788Q,CTBP2:NM_001321013:exon6:c.T744A:p.H248Q,CTBP2:NM_001083914:exon7:c.T744A:p.H248Q,CTBP2:NM_001290214:exon7:c.T744A:p.H248Q,CTBP2:NM_001290215:exon7:c.T744A:p.H248Q,CTBP2:NM_001321012:exon7:c.T744A:p.H248Q,CTBP2:NM_001321014:exon7:c.T744A:p.H248Q,CTBP2:NM_001329:exon7:c.T744A:p.H248Q	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	4089.26	106	chr10	124994505	.	A	T	4089.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.53;DP=948;ExcessHet=11.5949;FS=40.326;MLEAC=6;MLEAF=0.5;MQ=57.33;MQRankSum=-6.081;QD=4.77;ReadPosRankSum=-1.376;SOR=3.44	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,43:194:99:0|1:124994489_T_G:1340,0,6152:124994489	0	0	6	1
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F,CTBP2:NM_022802:exon5:c.C2339T:p.S780F,CTBP2:NM_001321013:exon6:c.C719T:p.S240F,CTBP2:NM_001083914:exon7:c.C719T:p.S240F,CTBP2:NM_001290214:exon7:c.C719T:p.S240F,CTBP2:NM_001290215:exon7:c.C719T:p.S240F,CTBP2:NM_001321012:exon7:c.C719T:p.S240F,CTBP2:NM_001321014:exon7:c.C719T:p.S240F,CTBP2:NM_001329:exon7:c.C719T:p.S240F	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	5877.14	117	chr10	124994530	.	G	A	5877.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.226;DP=1014;ExcessHet=14.2834;FS=51.694;MLEAC=7;MLEAF=0.5;MQ=56.88;MQRankSum=-5.524;QD=6.41;ReadPosRankSum=1.14;SOR=3.874	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,52:203:99:0|1:124994523_G_A:1597,0,6001:124994523	0	0	7	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N,CTBP2:NM_022802:exon5:c.G2327A:p.S776N,CTBP2:NM_001321013:exon6:c.G707A:p.S236N,CTBP2:NM_001083914:exon7:c.G707A:p.S236N,CTBP2:NM_001290214:exon7:c.G707A:p.S236N,CTBP2:NM_001290215:exon7:c.G707A:p.S236N,CTBP2:NM_001321012:exon7:c.G707A:p.S236N,CTBP2:NM_001321014:exon7:c.G707A:p.S236N,CTBP2:NM_001329:exon7:c.G707A:p.S236N	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3259.14	118	chr10	124994542	.	C	T	3259.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.257;DP=1044;ExcessHet=14.2834;FS=75.76;MLEAC=7;MLEAF=0.5;MQ=56.81;MQRankSum=-5.466;QD=3.6;ReadPosRankSum=2.25;SOR=4.636	GT:AD:DP:GQ:PL	0/1:145,52:197:99:867,0,4015	0	0	7	0
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q,CTBP2:NM_022802:exon5:c.T2306A:p.L769Q,CTBP2:NM_001321013:exon6:c.T686A:p.L229Q,CTBP2:NM_001083914:exon7:c.T686A:p.L229Q,CTBP2:NM_001290214:exon7:c.T686A:p.L229Q,CTBP2:NM_001290215:exon7:c.T686A:p.L229Q,CTBP2:NM_001321012:exon7:c.T686A:p.L229Q,CTBP2:NM_001321014:exon7:c.T686A:p.L229Q,CTBP2:NM_001329:exon7:c.T686A:p.L229Q	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3339.14	115	chr10	124994563	.	A	T	3339.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.931;DP=1058;ExcessHet=14.2834;FS=82.34;MLEAC=7;MLEAF=0.5;MQ=56.58;MQRankSum=-5.915;QD=3.6;ReadPosRankSum=2.9;SOR=4.841	GT:AD:DP:GQ:PL	0/1:151,55:206:99:872,0,4187	0	0	7	0
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	8046.14	115	chr10	124994577	.	C	A	8046.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-3.628;DP=1069;ExcessHet=14.2834;FS=72.991;MLEAC=7;MLEAF=0.5;MQ=56.56;MQRankSum=-5.892;QD=8.45;ReadPosRankSum=2.39;SOR=4.387	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,64:214:99:0|1:124994577_C_A:2206,0,5946:124994577	0	0	7	0
chr10	124994610	124994641	CAAGTAGGGGTCATAAAATATGACGCTGAATC	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon5:c.812_843del:p.G271Afs*36,CTBP2:NM_022802:exon5:c.2228_2259del:p.G743Afs*36,CTBP2:NM_001321013:exon6:c.608_639del:p.G203Afs*36,CTBP2:NM_001083914:exon7:c.608_639del:p.G203Afs*36,CTBP2:NM_001290214:exon7:c.608_639del:p.G203Afs*36,CTBP2:NM_001290215:exon7:c.608_639del:p.G203Afs*36,CTBP2:NM_001321012:exon7:c.608_639del:p.G203Afs*36,CTBP2:NM_001321014:exon7:c.608_639del:p.G203Afs*36,CTBP2:NM_001329:exon7:c.608_639del:p.G203Afs*36	.	417	925	176	4	0	184	0.0904621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	117.19	99	chr10	124994609	.	GCAAGTAGGGGTCATAAAATATGACGCTGAATC	G	117.19	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.47;DP=780;ExcessHet=0.3476;FS=3.941;MLEAC=2;MLEAF=0.143;MQ=55.92;MQRankSum=-1.465;QD=0.79;ReadPosRankSum=-1.401;SOR=0.814	GT:AD:DP:GQ:PL	0/0:132,0:132:99:0,120,1800	5	0	2	0
chr10	124998077	124998077	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.G656C:p.W219S,CTBP2:NM_022802:exon4:c.G2072C:p.W691S,CTBP2:NM_001321013:exon5:c.G452C:p.W151S,CTBP2:NM_001083914:exon6:c.G452C:p.W151S,CTBP2:NM_001290214:exon6:c.G452C:p.W151S,CTBP2:NM_001290215:exon6:c.G452C:p.W151S,CTBP2:NM_001321012:exon6:c.G452C:p.W151S,CTBP2:NM_001321014:exon6:c.G452C:p.W151S,CTBP2:NM_001329:exon6:c.G452C:p.W151S	.	411	908	195	8	0	211	0.104095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.729	0.132665301415	.	.	.	.	.	.	.	.	.	.	.	.	.	rs921417861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.49613	D	0.251	0.48855	T	0.932	0.67487	P	0.903	0.72692	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.73	0.18813	N	-1.24	0.78967	T	-13.16	0.99944	D	0.816	0.82660	0.015	0.82548	D	0.436	0.77612	T	10	0.8384273	0.82996	D	0.132665	0.81500	D	0.729	0.90501	0.42	0.46200	0.916186859433	0.91534	0.939893042578689	0.93970	2.15981024662	0.95367	0.902819037437	0.96746	D	0.566519	0.85577	D	0.361391	0.87361	D	0.281337	0.87198	D	0.999315857887268	0.96929	D	0.787421	0.42665	T	0.9529722	0.96568	0.9167839	0.96171	0.9529722	0.96569	0.9167839	0.96171	-13.048	0.91030	D	.	.	0.987	0.92737	P	.;.;.;.;.;.	.;.;.;.;.;.	5.895887	0.93981	33	0.99155191442297097	0.53931	0.92847	0.56691	D	AEFDGBCI	0.944592	0.95186	D	0.526305507094081	0.68652	5.246556	0.569067646848623	0.72734	5.856765	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.565000	0.81337	5.908000	0.50981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1686.69	135	chr10	124998077	.	C	G	1686.69	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-1.418;DP=938;ExcessHet=2.5225;FS=11.627;MLEAC=5;MLEAF=0.5;MQ=57.98;MQRankSum=-7.482;QD=3.68;ReadPosRankSum=1.65;SOR=1.614	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:231,0:231:0:.:.:0,0,3947:.	1	0	4	2
chr10	124998080	124998080	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C653G:p.T218R,CTBP2:NM_022802:exon4:c.C2069G:p.T690R,CTBP2:NM_001321013:exon5:c.C449G:p.T150R,CTBP2:NM_001083914:exon6:c.C449G:p.T150R,CTBP2:NM_001290214:exon6:c.C449G:p.T150R,CTBP2:NM_001290215:exon6:c.C449G:p.T150R,CTBP2:NM_001321012:exon6:c.C449G:p.T150R,CTBP2:NM_001321014:exon6:c.C449G:p.T150R,CTBP2:NM_001329:exon6:c.C449G:p.T150R	.	411	907	195	9	0	213	0.105081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.679	0.0475041477189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.53900	T	0.336	0.34124	T	0.999	0.90584	D	0.989	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.54	0.13725	N	-1.31	0.79666	T	-3.5	0.68298	D	0.928	0.95139	0.036	0.82969	D	0.482	0.80205	T	10	0.8320574	0.82367	D	0.047504	0.62952	D	0.679	0.88205	0.598	0.72862	0.765312620283	0.76316	0.9505245979181556	0.95036	2.12633044952	0.95074	0.794296979904	0.81096	T	0.503085	0.82273	D	0.222721	0.76033	D	0.0821472	0.75720	D	0.938564615564625	0.60928	D	0.79772	0.44184	T	0.9565074	0.96926	0.8445915	0.91143	0.9565074	0.96926	0.8445915	0.91143	-16.429	0.98336	D	.	.	0.949	0.86814	P	.;.;.;.;.;.	.;.;.;.;.;.	5.668071	0.92919	33	0.99401680195169373	0.62841	0.95078	0.63357	D	AEFDGBCI	0.948544	0.96027	D	0.585474125636482	0.72268	5.778968	0.626633119523619	0.76879	6.573287	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	9.597000	0.97445	8.536000	0.77474	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1689.69	130	chr10	124998080	.	G	C	1689.69	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.126;DP=923;ExcessHet=2.5225;FS=10.025;MLEAC=5;MLEAF=0.5;MQ=57.97;MQRankSum=-7.482;QD=3.7;ReadPosRankSum=1.65;SOR=1.589	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:224,0:224:0:.:.:0,0,3527:.	1	0	4	2
chr10	124998087	124998087	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.A646G:p.R216G,CTBP2:NM_022802:exon4:c.A2062G:p.R688G,CTBP2:NM_001321013:exon5:c.A442G:p.R148G,CTBP2:NM_001083914:exon6:c.A442G:p.R148G,CTBP2:NM_001290214:exon6:c.A442G:p.R148G,CTBP2:NM_001290215:exon6:c.A442G:p.R148G,CTBP2:NM_001321012:exon6:c.A442G:p.R148G,CTBP2:NM_001321014:exon6:c.A442G:p.R148G,CTBP2:NM_001329:exon6:c.A442G:p.R148G	.	414	922	177	9	0	195	0.0956351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.187163960256	.	.	.	.	.	.	.	.	.	.	.	.	.	rs914098337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.46513	T	0.114	0.50226	T	0.889	0.56408	P	0.532	0.59825	P	0.000000	0.84330	D	0.000000	0.999931	0.51612	D	1.53	0.38800	L	-1.44	0.80815	T	-6.41	0.91868	D	0.945	0.95491	-0.1393	0.79182	T	0.443	0.78033	T	10	0.8510742	0.84286	D	0.187164	0.85921	D	0.592	0.83747	0.59	0.71874	0.975786130339	0.97552	0.9668684472081748	0.96674	1.31579442616	0.83326	0.803737461567	0.82533	D	0.582432	0.86347	D	0.299844	0.82957	D	0.192928	0.82736	D	0.96776270866394	0.68017	D	0.831417	0.49863	T	0.8377413	0.86447	0.72207403	0.83588	0.8377413	0.86448	0.72207403	0.83589	-13.47	0.92423	D	.	.	0.990	0.93663	P	.;.;.;.;.;.	.;.;.;.;.;.	3.151647	0.42666	21.6	0.99467938748563089	0.66154	0.20835	0.21186	N	AEFDGBCI	0.404313	0.47765	N	-0.449297695031707	0.23763	1.278434	-0.489554569803757	0.22440	1.218867	0.999987001428746	0.51787	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	0.468	0.15943	-0.037000	0.12116	0.229000	0.16167	-0.876000	0.02500	0.022000	0.19841	0.016000	0.20520	0.945000	0.48827	0.0:0.0:0.2754:0.7246	17.140	0.86628	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	1665.69	125	chr10	124998087	.	T	C	1665.69	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.215;DP=923;ExcessHet=2.5225;FS=10.025;MLEAC=5;MLEAF=0.5;MQ=58;MQRankSum=-7.618;QD=3.58;ReadPosRankSum=2.67;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:221,0:221:0:.:.:0,0,3802:.	1	0	4	2
chr10	124998090	124998090	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C643T:p.R215W,CTBP2:NM_022802:exon4:c.C2059T:p.R687W,CTBP2:NM_001321013:exon5:c.C439T:p.R147W,CTBP2:NM_001083914:exon6:c.C439T:p.R147W,CTBP2:NM_001290214:exon6:c.C439T:p.R147W,CTBP2:NM_001290215:exon6:c.C439T:p.R147W,CTBP2:NM_001321012:exon6:c.C439T:p.R147W,CTBP2:NM_001321014:exon6:c.C439T:p.R147W,CTBP2:NM_001329:exon6:c.C439T:p.R147W	.	413	929	171	9	0	189	0.0923302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.874	0.341150234986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs945665113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.59928	D	0.005	0.74150	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.78	0.95251	H	-2.1	0.86146	D	-7.06	0.95511	D	0.966	0.98840	0.927	0.96063	D	0.842	0.94722	D	10	0.9513125	0.94468	D	0.34115	0.92018	D	0.874	0.96243	0.801	0.92017	0.936821863726	0.93617	0.9793425394167631	0.97925	2.04020034352	0.94242	0.869401991367	0.92483	D	0.888608	0.97719	D	0.413835	0.90693	D	0.356669	0.90576	D	0.995111286640167	0.86855	D	0.922308	0.71764	D	0.9076591	0.92078	0.81096756	0.88961	0.9076591	0.92079	0.81096756	0.88962	-12.412	0.89971	D	.	.	0.994	0.94938	P	.;.;.;.;.;.	.;.;.;.;.;.	5.386720	0.90260	31	0.99921174864262352	0.98787	0.83216	0.42352	D	AEFDGBCI	0.811773	0.73467	D	0.762974766057605	0.83747	8.099164	0.668520105960494	0.79996	7.201961	0.999999999894642	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	2.889000	0.48300	4.484000	0.43545	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1644.69	126	chr10	124998090	.	G	A	1644.69	.	AC=4;AF=0.4;AN=10;BaseQRankSum=0;DP=931;ExcessHet=2.5225;FS=10.161;MLEAC=5;MLEAF=0.5;MQ=58.03;MQRankSum=-7.662;QD=3.48;ReadPosRankSum=3.3;SOR=1.651	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:221,0:221:0:.:.:0,0,3598:.	1	0	4	2
chr10	124998111	124998111	A	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T622G:p.C208G,CTBP2:NM_022802:exon4:c.T2038G:p.C680G,CTBP2:NM_001321013:exon5:c.T418G:p.C140G,CTBP2:NM_001083914:exon6:c.T418G:p.C140G,CTBP2:NM_001290214:exon6:c.T418G:p.C140G,CTBP2:NM_001290215:exon6:c.T418G:p.C140G,CTBP2:NM_001321012:exon6:c.T418G:p.C140G,CTBP2:NM_001321014:exon6:c.T418G:p.C140G,CTBP2:NM_001329:exon6:c.T418G:p.C140G	.	410	944	157	11	0	179	0.0865989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.706	0.118222220686	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796159102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.28271	T	0.677	0.30045	T	0.792	0.44688	P	0.742	0.55764	P	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.895	0.01383	N	-1.16	0.78082	T	-10.62	0.99118	D	0.915	0.92084	-0.3132	0.74615	T	0.196	0.55013	T	10	0.8713615	0.86403	D	0.118222	0.79821	D	0.706	0.89468	0.702	0.83869	0.912513623049	0.91163	0.9715165431574718	0.97140	1.07786358497	0.77034	0.792436718941	0.80814	T	0.566859	0.85593	D	0.34296	0.86036	D	0.254862	0.85852	D	0.979450762271881	0.72840	D	0.749425	0.37065	T	0.9582798	0.97106	0.86085767	0.92237	0.9582798	0.97106	0.86085767	0.92238	-11.17	0.90895	D	.	.	0.677	0.72022	P	.;.;.;.;.;.	.;.;.;.;.;.	4.908805	0.80750	27.4	0.97552676337226596	0.34577	0.93781	0.59173	D	AEFDGBCI	0.967747	0.99022	D	-0.0331808542601439	0.40357	2.395268	0.177505344340639	0.48618	3.075226	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	8.942000	0.92506	11.101000	0.86122	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.839000	0.39591	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1597.76	128	chr10	124998111	.	A	C	1597.76	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.605;DP=935;ExcessHet=2.5225;FS=8.287;MLEAC=5;MLEAF=0.5;MQ=58.06;MQRankSum=-7.794;QD=3.36;ReadPosRankSum=4.81;SOR=1.46	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:216,0:216:0:.:.:0,0,3925:.	1	0	4	2
chr10	124998113	124998113	A	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T620C:p.I207T,CTBP2:NM_022802:exon4:c.T2036C:p.I679T,CTBP2:NM_001321013:exon5:c.T416C:p.I139T,CTBP2:NM_001083914:exon6:c.T416C:p.I139T,CTBP2:NM_001290214:exon6:c.T416C:p.I139T,CTBP2:NM_001290215:exon6:c.T416C:p.I139T,CTBP2:NM_001321012:exon6:c.T416C:p.I139T,CTBP2:NM_001321014:exon6:c.T416C:p.I139T,CTBP2:NM_001329:exon6:c.T416C:p.I139T	.	407	952	152	11	0	174	0.0837344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0441406922816	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376695472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.49117	D	0.018	0.63109	D	0.009	0.16609	B	0.245	0.43514	B	0.005992	0.32354	N	0.362203	0.988384	0.40754	D	1.57	0.39626	L	0.83	0.47815	T	-2.71	0.62630	D	0.584	0.63544	-0.4637	0.69944	T	0.283	0.65458	T	10	0.6084408	0.67308	D	0.044141	0.61343	D	0.345	0.66676	0.751	0.88155	0.737279644149	0.73493	0.9229225010523135	0.92269	2.07736266856	0.94533	0.59366941452	0.52011	T	0.642362	0.89048	D	0.0826065	0.62345	D	-0.119118	0.61876	T	0.971555709838867	0.69361	D	0.751225	0.37284	T	0.56677717	0.70883	0.3280792	0.58700	0.56677717	0.70884	0.3280792	0.58699	-8.556	0.67961	D	.	.	0.481	0.69086	A	.;.;.;.;.;.	.;.;.;.;.;.	3.559859	0.50089	22.9	0.99260520779104144	0.57188	0.90885	0.52445	D	AEFDGBCI	0.920892	0.89354	D	0.260421526544683	0.54157	3.581951	0.337703125837148	0.57769	3.944058	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.143000	0.76935	7.993000	0.76119	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.563000	0.30483	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1576.76	126	chr10	124998113	.	A	G	1576.76	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.313;DP=933;ExcessHet=2.5225;FS=8.287;MLEAC=5;MLEAF=0.5;MQ=58.06;MQRankSum=-7.838;QD=3.26;ReadPosRankSum=4.74;SOR=1.458	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:215,0:215:0:.:.:0,0,3789:.	1	0	4	2
chr10	125002983	125002983	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A539C:p.D180A,CTBP2:NM_022802:exon3:c.A1955C:p.D652A,CTBP2:NM_001321013:exon4:c.A335C:p.D112A,CTBP2:NM_001083914:exon5:c.A335C:p.D112A,CTBP2:NM_001290214:exon5:c.A335C:p.D112A,CTBP2:NM_001290215:exon5:c.A335C:p.D112A,CTBP2:NM_001321012:exon5:c.A335C:p.D112A,CTBP2:NM_001321014:exon5:c.A335C:p.D112A,CTBP2:NM_001329:exon5:c.A335C:p.D112A	.	450	846	218	8	0	234	0.121495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.948	0.596276217237	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796433756	6.844e-07	6.84e-07	0	1.376e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.70582	D	0.997	0.70673	D	0.894	0.63417	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.935	0.84639	M	-3.5	0.94658	D	-7.18	0.94786	D	0.995	0.99954	1.048	0.98073	D	0.913	0.97116	D	10	0.98108125	0.98114	D	0.596276	0.96430	D	0.948	0.98990	0.847	0.95025	0.985246513857	0.98508	0.9901502538290843	0.99010	2.21030123888	0.95757	0.827131271362	0.86123	D	0.80395	0.95030	D	0.531082	0.95186	D	0.525086	0.95114	D	0.997385203838348	0.91430	D	0.69753	0.30746	T	0.9735778	0.98583	0.92888653	0.97017	0.9735778	0.98583	0.92888653	0.97018	-12.406	0.90114	D	.	.	0.981	0.91385	P	.;.;.;.;.;.	.;.;.;.;.;.	5.332404	0.89486	30	0.99357061535026048	0.60820	0.97620	0.75953	D	AEFDGBCI	0.936879	0.93385	D	0.65147023026997	0.76465	6.491341	0.533343637265574	0.70246	5.477253	0.999999999999824	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.68	4.68	0.58319	8.017000	0.88732	7.781000	0.68671	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.428	0.66804	926	0.17793	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	154.79	62	chr10	125002983	.	T	G	154.79	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.345;DP=539;ExcessHet=0.3476;FS=1.255;MLEAC=2;MLEAF=0.167;MQ=55.91;MQRankSum=0;QD=3.04;ReadPosRankSum=-0.992;SOR=0.681	GT:AD:DP:GQ:PL	0/0:93,0:93:99:0,120,1800	4	0	2	1
chr10	125003006	125003006	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A516G:p.I172M,CTBP2:NM_022802:exon3:c.A1932G:p.I644M,CTBP2:NM_001321013:exon4:c.A312G:p.I104M,CTBP2:NM_001083914:exon5:c.A312G:p.I104M,CTBP2:NM_001290214:exon5:c.A312G:p.I104M,CTBP2:NM_001290215:exon5:c.A312G:p.I104M,CTBP2:NM_001321012:exon5:c.A312G:p.I104M,CTBP2:NM_001321014:exon5:c.A312G:p.I104M,CTBP2:NM_001329:exon5:c.A312G:p.I104M	.	446	735	288	11	42	352	0.174157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.0321536739593	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112239066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.08	0.63918	T	0.181	0.33195	B	0.448	0.54942	P	0.000000	0.84330	D	0.041576	0.999844	0.50061	D	0.75	0.19020	N	0.49	0.55775	T	-2.64	0.58569	D	0.836	0.83269	-0.7500	0.57935	T	0.204	0.56197	T	10	0.6425146	0.69138	D	0.032154	0.54058	D	0.299	0.61955	0.608	0.74063	0.888756313204	0.88766	0.8899222963871994	0.88962	1.97030917324	0.93550	0.763966917992	0.76522	T	0.498739	0.82005	T	0.153991	0.69642	D	-0.0165792	0.69254	D	0.892641007900238	0.54376	D	0.971703	0.89738	D	0.900253	0.91405	0.73775256	0.84500	0.900253	0.91406	0.73775256	0.84501	-11.638	0.83043	D	.	.	0.704	0.73111	P	.;.;.;.;.;.	.;.;.;.;.;.	3.009532	0.40238	21.1	0.98800960143032701	0.46445	0.70557	0.34640	D	AEFDGBCI	0.375410	0.45995	N	-0.354523303243395	0.27107	1.484558	-0.382971277888603	0.25504	1.402991	0.999987104814068	0.51787	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	-0.385	0.11849	0.087000	0.14801	-2.864000	0.03283	0.661000	0.55757	0.984000	0.35821	0.000000	0.08366	0.987000	0.62547	0.1048:0.0:0.556:0.3392	9.404	0.37616	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	557.05	62	chr10	125003006	.	T	C	557.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.345;DP=568;ExcessHet=1.1394;FS=1.866;MLEAC=3;MLEAF=0.25;MQ=56.74;MQRankSum=-3.356;QD=3.62;ReadPosRankSum=-0.135;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,8:102:52:0|1:125003006_T_C:52,0,3882:125003006	3	0	3	1
chr10	125003008	125003008	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A514G:p.I172V,CTBP2:NM_022802:exon3:c.A1930G:p.I644V,CTBP2:NM_001321013:exon4:c.A310G:p.I104V,CTBP2:NM_001083914:exon5:c.A310G:p.I104V,CTBP2:NM_001290214:exon5:c.A310G:p.I104V,CTBP2:NM_001290215:exon5:c.A310G:p.I104V,CTBP2:NM_001321012:exon5:c.A310G:p.I104V,CTBP2:NM_001321014:exon5:c.A310G:p.I104V,CTBP2:NM_001329:exon5:c.A310G:p.I104V	.	445	756	296	11	14	332	0.17377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.00473531755394	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112508291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.49117	T	0.225	0.53426	T	0.077	0.31731	B	0.17	0.40265	B	0.000000	0.84330	D	0.041576	0.999999	0.58761	D	0.695	0.17993	N	0.75	0.50192	T	-0.79	0.24026	N	0.556	0.58202	-0.9237	0.45041	T	0.114	0.40582	T	10	0.38906825	0.54757	T	0.004735	0.11784	T	0.268	0.58254	0.543	0.65589	0.617811438573	0.61472	0.8191908894802049	0.81876	0.844564219319	0.68219	0.727838099003	0.71190	T	0.212424	0.57347	T	0.0218691	0.54635	T	-0.206363	0.54044	T	0.846796572208405	0.49891	D	0.80082	0.44648	T	0.6371357	0.74678	0.6131621	0.77490	0.6371357	0.74680	0.6131621	0.77491	-10.157	0.74846	D	.	.	0.354	0.56812	A	.;.;.;.;.;.	.;.;.;.;.;.	4.218404	0.63791	24.6	0.9760612770993129	0.34876	0.96140	0.67716	D	AEFDGBCI	0.953944	0.97066	D	-0.0415507725916174	0.39979	2.366619	0.072950189852906	0.43195	2.62624	0.999999999999936	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.94	0.64645	6.271000	0.72566	7.738000	0.67953	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	14.902	0.70330	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	551.05	62	chr10	125003008	.	T	C	551.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.347;DP=573;ExcessHet=1.1394;FS=1.864;MLEAC=3;MLEAF=0.25;MQ=56.78;MQRankSum=-3.356;QD=3.53;ReadPosRankSum=0.396;SOR=1.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,8:104:46:0|1:125003006_T_C:46,0,3926:125003006	3	0	3	1
chr10	125003010	125003010	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G512A:p.R171Q,CTBP2:NM_022802:exon3:c.G1928A:p.R643Q,CTBP2:NM_001321013:exon4:c.G308A:p.R103Q,CTBP2:NM_001083914:exon5:c.G308A:p.R103Q,CTBP2:NM_001290214:exon5:c.G308A:p.R103Q,CTBP2:NM_001290215:exon5:c.G308A:p.R103Q,CTBP2:NM_001321012:exon5:c.G308A:p.R103Q,CTBP2:NM_001321014:exon5:c.G308A:p.R103Q,CTBP2:NM_001329:exon5:c.G308A:p.R103Q	.	444	756	297	11	14	333	0.174222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.504	0.05280934696	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs760489730	3.421e-06	3.42e-06	4.084e-06	2.751e-06	2.698e-06	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.49117	D	0.097	0.47828	T	0.981	0.70673	D	0.87	0.69585	P	0.000002	0.62929	D	0.103452	0.999999	0.58761	D	1.885	0.50048	L	0.74	0.50459	T	-3.3	0.70553	D	0.879	0.89020	-0.3679	0.73025	T	0.302	0.67288	T	10	0.8397628	0.83130	D	0.052809	0.65217	D	0.504	0.78600	0.649	0.78648	0.920337149778	0.91953	0.9496583447662756	0.94948	2.13197071687	0.95171	0.73884499073	0.72801	T	0.615991	0.87897	D	0.255676	0.79129	D	0.129484	0.78858	D	0.985857844352722	0.76728	D	0.876112	0.58827	D	0.93815976	0.95059	0.8432051	0.91051	0.93815976	0.95060	0.8432051	0.91051	-13.433	0.93329	D	.	.	0.974	0.90036	P	.;.;.;.;.;.	.;.;.;.;.;.	5.858587	0.93846	33	0.99909411540893078	0.97949	0.95340	0.64339	D	AEFDGBCI	0.924502	0.90264	D	0.389332597998194	0.60844	4.277879	0.288795626305503	0.54883	3.652246	0.999999999992808	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.04	0.46262	6.159000	0.71664	3.924000	0.40490	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9243:0.0:0.0757	13.592	0.61434	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	557.05	62	chr10	125003010	.	C	T	557.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.938;DP=596;ExcessHet=1.1394;FS=7.688;MLEAC=3;MLEAF=0.25;MQ=57.22;MQRankSum=-3.356;QD=3.62;ReadPosRankSum=0.414;SOR=1.382	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,8:102:52:0|1:125003006_T_C:52,0,3882:125003006	3	0	3	1
chr10	125003036	125003036	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G486T:p.K162N,CTBP2:NM_022802:exon3:c.G1902T:p.K634N,CTBP2:NM_001321013:exon4:c.G282T:p.K94N,CTBP2:NM_001083914:exon5:c.G282T:p.K94N,CTBP2:NM_001290214:exon5:c.G282T:p.K94N,CTBP2:NM_001290215:exon5:c.G282T:p.K94N,CTBP2:NM_001321012:exon5:c.G282T:p.K94N,CTBP2:NM_001321014:exon5:c.G282T:p.K94N,CTBP2:NM_001329:exon5:c.G282T:p.K94N	.	419	630	463	10	0	483	0.277108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.0466189854146	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs201760950	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.04	0.43708	D	0.12	0.58089	T	0.986	0.61523	D	0.89	0.63157	P	0.000000	0.84330	N	0.042861	0.999994	0.58761	D	1.115	0.28702	L	0.72	0.50976	T	-4.42	0.80425	D	0.797	0.79696	-0.8284	0.53403	T	0.177	0.52272	T	10	0.7330282	0.74429	D	0.046619	0.62540	D	0.295	0.61502	0.506	0.60078	0.669401567584	0.66661	0.9683590239784833	0.96823	1.29775370337	0.82942	0.700282335281	0.67184	T	0.552971	0.84897	D	-0.0504497	0.44379	T	-0.310244	0.43632	T	0.989160597324371	0.79417	D	0.748325	0.36895	T	0.7315896	0.79813	0.47296822	0.69449	0.7315896	0.79814	0.47296822	0.69450	-15.293	0.98237	D	.	.	0.987	0.92764	P	.;.;.;.;.;.	.;.;.;.;.;.	4.828208	0.78704	27.0	0.99659729855249335	0.77883	0.88851	0.48981	D	AEFDGBCI	0.619890	0.60515	D	0.116058801363205	0.47212	2.950075	0.0734135689233688	0.43216	2.628043	0.999999959797154	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.03	0.46115	2.713000	0.46862	1.753000	0.28490	-0.180000	0.10397	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.1568:0.6905:0.0:0.1528	6.007	0.18780	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	541.79	70	chr10	125003036	.	C	A	541.79	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.589;DP=592;ExcessHet=0.3476;FS=6.435;MLEAC=2;MLEAF=0.167;MQ=56.93;MQRankSum=-3.807;QD=9.85;ReadPosRankSum=2.07;SOR=1.323	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:95,8:103:56:0|1:125003036_C_A:0,56,4011:125003036	4	0	2	1
chr10	125003062	125003062	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A460T:p.T154S,CTBP2:NM_022802:exon3:c.A1876T:p.T626S,CTBP2:NM_001321013:exon4:c.A256T:p.T86S,CTBP2:NM_001083914:exon5:c.A256T:p.T86S,CTBP2:NM_001290214:exon5:c.A256T:p.T86S,CTBP2:NM_001290215:exon5:c.A256T:p.T86S,CTBP2:NM_001321012:exon5:c.A256T:p.T86S,CTBP2:NM_001321014:exon5:c.A256T:p.T86S,CTBP2:NM_001329:exon5:c.A256T:p.T86S	.	411	643	453	15	0	483	0.273036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.491	0.0483128458714	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs3198936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.41637	T	0.522	0.36901	T	0.007	0.21357	B	0.008	0.27757	B	0.000000	0.84330	N	0.044612	0.996569	0.47043	D	1.065	0.27018	L	-1.93	0.84842	D	-3.0	0.65283	D	0.671	0.67908	-0.3304	0.74122	T	0.453	0.78662	T	10	0.56667346	0.65089	D	0.048313	0.63318	D	0.491	0.77783	0.57	0.69299	0.899189000732	0.89818	0.8017034108621458	0.80124	0.863764543004	0.69092	0.755492687225	0.75259	T	0.411071	0.76563	T	0.128098	0.67174	D	-0.0537727	0.66764	D	0.93286007642746	0.59920	D	0.675032	0.28342	T	0.4517838	0.64154	0.32242507	0.58182	0.4517838	0.64154	0.32242507	0.58182	-10.785	0.78466	D	.	.	0.259	0.49334	B	.;.;.;.;.;.	.;.;.;.;.;.	5.379924	0.90166	31	0.92993315479242666	0.22579	0.88414	0.48331	D	AEFDGBCI	0.628457	0.61053	D	-0.327467056762658	0.28109	1.547675	-0.174877914286987	0.32463	1.847172	0.999999921045429	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	4.998000	0.63670	6.076000	0.53302	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	632.29	68	chr10	125003062	.	T	A	632.29	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.345;DP=621;ExcessHet=2.5225;FS=10.332;MLEAC=4;MLEAF=0.333;MQ=57.1;MQRankSum=-4.221;QD=2.54;ReadPosRankSum=1.29;SOR=1.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,8:93:59:0|1:125003062_T_A:59,0,3517:125003062	2	0	4	1
chr10	125003065	125003065	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A457T:p.I153F,CTBP2:NM_022802:exon3:c.A1873T:p.I625F,CTBP2:NM_001321013:exon4:c.A253T:p.I85F,CTBP2:NM_001083914:exon5:c.A253T:p.I85F,CTBP2:NM_001290214:exon5:c.A253T:p.I85F,CTBP2:NM_001290215:exon5:c.A253T:p.I85F,CTBP2:NM_001321012:exon5:c.A253T:p.I85F,CTBP2:NM_001321014:exon5:c.A253T:p.I85F,CTBP2:NM_001329:exon5:c.A253T:p.I85F	.	409	645	453	15	0	483	0.27242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503	0.0700064426899	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs75794788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.25	0.48855	T	0.964	0.55854	D	0.865	0.63213	P	0.000000	0.84330	N	0.045107	1	0.81001	D	1.03	0.25572	L	0.6	0.53731	T	-3.56	0.72471	D	0.881	0.88909	-0.6507	0.62684	T	0.246	0.61530	T	10	0.75938225	0.76228	D	0.070006	0.70884	D	0.503	0.78538	0.497	0.58678	0.79712420435	0.79523	0.952589839956618	0.95242	2.43300071254	0.97277	0.815389215946	0.84320	D	0.550178	0.84755	D	0.238164	0.77489	D	0.10433	0.77195	D	0.969830691814423	0.68732	D	0.789321	0.42944	T	0.9161864	0.92879	0.80227107	0.88412	0.9161864	0.92880	0.80227107	0.88413	-16.606	0.99306	D	.	.	0.965	0.88639	P	.;.;.;.;.;.	.;.;.;.;.;.	5.439656	0.90921	32	0.9869222858790262	0.44780	0.95041	0.63223	D	AEFDGBCI	0.932153	0.92207	D	0.318344020359099	0.57088	3.875162	0.3071809800043	0.55960	3.758966	0.999999998494387	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	7.961000	0.87447	6.071000	0.53257	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	632.29	68	chr10	125003065	.	T	A	632.29	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.345;DP=624;ExcessHet=2.5225;FS=10.332;MLEAC=4;MLEAF=0.333;MQ=57.12;MQRankSum=-4.221;QD=2.54;ReadPosRankSum=1.29;SOR=1.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,8:93:59:0|1:125003062_T_A:59,0,3517:125003062	2	0	4	1
chr10	125003091	125003091	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.C431T:p.A144V,CTBP2:NM_022802:exon3:c.C1847T:p.A616V,CTBP2:NM_001321013:exon4:c.C227T:p.A76V,CTBP2:NM_001083914:exon5:c.C227T:p.A76V,CTBP2:NM_001290214:exon5:c.C227T:p.A76V,CTBP2:NM_001290215:exon5:c.C227T:p.A76V,CTBP2:NM_001321012:exon5:c.C227T:p.A76V,CTBP2:NM_001321014:exon5:c.C227T:p.A76V,CTBP2:NM_001329:exon5:c.C227T:p.A76V	.	423	874	217	8	0	233	0.117617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.428	0.0396646121041	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs3198935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.04	0.53788	D	0.997	0.70673	D	0.9	0.67350	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.63	0.41750	L	0.64	0.52867	T	-3.59	0.72353	D	0.83	0.86404	-0.7342	0.58751	T	0.234	0.60063	T	10	0.85133255	0.84313	D	0.039665	0.58940	D	0.428	0.73517	0.615	0.74884	0.805301142055	0.80348	0.9739020719154817	0.97380	1.79913636405	0.91619	0.833252906799	0.87062	D	0.558733	0.85191	D	0.278003	0.81145	D	0.161556	0.80903	D	0.981222689151764	0.73791	D	0.836316	0.50742	T	0.71443444	0.78852	0.29747087	0.55780	0.71443444	0.78854	0.29747087	0.55779	-11.965	0.84680	D	.	.	0.991	0.94980	P	.;.;.;.;.;.	.;.;.;.;.;.	4.805965	0.78137	26.8	0.99882348519737318	0.95813	0.98748	0.86347	D	AEFDGBCI	0.955612	0.97357	D	0.457477404135832	0.64629	4.721769	0.367611348405123	0.59576	4.136584	1.0	0.98316	0.645754	0.44609	0	0.633656	0.55848	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	4.68	4.68	0.58319	10.003000	0.99689	11.683000	0.94248	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.222000	0.22517	0.0:0.0:1.0:0.0	17.956	0.88988	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	242.79	65	chr10	125003091	.	G	A	242.79	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.189;DP=519;ExcessHet=0.3476;FS=2.665;MLEAC=2;MLEAF=0.167;MQ=55.13;MQRankSum=0;QD=4.67;ReadPosRankSum=-1.96;SOR=1.021	GT:AD:DP:GQ:PL	0/0:89,0:89:53:0,53,2304	4	0	2	1
chr10	125003105	125003105	C	T	splicing	CTBP2	NM_001290214:exon5:c.214-1G>A;NM_001321013:exon4:c.214-1G>A;NM_001329:exon5:c.214-1G>A;NM_001290215:exon5:c.214-1G>A;NM_001321012:exon5:c.214-1G>A;NM_001321014:exon5:c.214-1G>A;NM_001083914:exon5:c.214-1G>A;NM_001363508:exon3:c.418-1G>A;NM_022802:exon3:c.1834-1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.89	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225786	0.76323	D	0.0865494	0.76014	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	6.142422	0.94657	34	0.99186554228697821	0.54848	0.98144	0.79977	D	AEFDGBCI	.	.	.	0.957874635170878	0.94294	12.64636	0.734653814125909	0.85008	8.453678	1.0	0.98316	0.298561	0.05477	0	0.097471	0.02872	0	0.193828	0.04512	0	0.195515	0.04268	0	0.970061	0.72327	4.68	4.68	0.58319	6.165000	0.71729	7.482000	0.59270	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.153000	0.20410	0.0:1.0:0.0:0.0	17.956	0.88988	925	0.17918	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	71.58	85	chr10	125003105	.	C	T	71.58	.	AC=1;AF=0.5;AN=2;BaseQRankSum=0.674;DP=579;ExcessHet=0;FS=0;MLEAC=2;MLEAF=1;MQ=53.58;MQRankSum=0;QD=14.32;ReadPosRankSum=-1.645;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:111,0:111:0:.:.:0,0,1235:.	0	0	1	6
chr10	125003357	125003357	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C398T:p.T133M,CTBP2:NM_022802:exon2:c.C1814T:p.T605M,CTBP2:NM_001321013:exon3:c.C194T:p.T65M,CTBP2:NM_001083914:exon4:c.C194T:p.T65M,CTBP2:NM_001290214:exon4:c.C194T:p.T65M,CTBP2:NM_001290215:exon4:c.C194T:p.T65M,CTBP2:NM_001321012:exon4:c.C194T:p.T65M,CTBP2:NM_001321014:exon4:c.C194T:p.T65M,CTBP2:NM_001329:exon4:c.C194T:p.T65M	.	424	862	235	1	0	237	0.120857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.785	0.338057885342	.	.	1.698e-05	0	0	0	0	3.122e-05	0	0	1.29e-05	2	154602	rs768573864	8.23e-06	8.209e-06	1.092e-05	5.513e-06	8.998e-06	4.39e-06	3.47e-06	4.55e-06	3.32e-06	0	0	0	0	1.905e-05	0	8.998e-06	1.662e-05	0	6.571e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.78490	D	0.041	0.58089	D	0.924	0.73220	P	0.646	0.66904	P	0.000000	0.84330	D	0.047645	1	0.81001	D	1.975	0.53506	M	-1.93	0.84842	D	-5.55	0.89152	D	0.825	0.82964	0.559	0.91361	D	0.703	0.89790	D	10	0.84322035	0.83481	D	0.338058	0.91938	D	0.785	0.92868	0.55	0.66576	0.871695389801	0.87044	0.8858696461970613	0.88555	2.04020034352	0.94242	0.847845315933	0.89288	D	0.769737	0.93827	D	0.312043	0.83899	D	0.210452	0.83688	D	0.965979218482971	0.67436	D	0.89801	0.64352	D	0.83755374	0.86434	0.83579093	0.90562	0.83755374	0.86436	0.83579093	0.90562	-13.803	0.92478	D	.	.	0.915	0.83817	P	.;.;.;.;.;.	.;.;.;.;.;.	5.948125	0.94152	33	0.9988098438978944	0.95733	0.97166	0.73078	D	AEFDGBHCI	0.946022	0.95501	D	0.641428984643706	0.75816	6.373162	0.605033197001249	0.75304	6.287037	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.4	4.4	0.52402	9.992000	0.99232	11.673000	0.94126	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	17.367	0.87255	923	0.18507	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	182.25	66	chr10	125003357	.	G	A	182.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.444;DP=438;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=59.07;MQRankSum=-8.018;QD=1.6;ReadPosRankSum=-2.033;SOR=0.573	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:90,5:95:61:0|1:125003357_G_A:0,61,3805:125003357	5	0	2	0
chr10	125003368	125003368	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C387G:p.D129E,CTBP2:NM_022802:exon2:c.C1803G:p.D601E,CTBP2:NM_001321013:exon3:c.C183G:p.D61E,CTBP2:NM_001083914:exon4:c.C183G:p.D61E,CTBP2:NM_001290214:exon4:c.C183G:p.D61E,CTBP2:NM_001290215:exon4:c.C183G:p.D61E,CTBP2:NM_001321012:exon4:c.C183G:p.D61E,CTBP2:NM_001321014:exon4:c.C183G:p.D61E,CTBP2:NM_001329:exon4:c.C183G:p.D61E	.	430	852	239	1	0	241	0.123907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.0278736828157	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.52492	D	0.035	0.76473	D	0.057	0.33445	B	0.084	0.45295	B	0.000001	0.84330	D	0.093937	0.998215	0.47795	D	1.255	0.31814	L	0.84	0.47477	T	-3.72	0.73151	D	0.731	0.74280	-0.8081	0.54665	T	0.168	0.50745	T	10	0.57244885	0.65394	D	0.027874	0.50634	D	0.229	0.52916	0.567	0.68901	0.742667268481	0.74035	0.9372575970872389	0.93705	0.839287628383	0.67962	0.822298943996	0.85381	D	0.532581	0.83851	D	-0.00859042	0.50463	T	-0.250116	0.49806	T	0.95814836025238	0.65193	D	0.816918	0.54045	T	0.61954224	0.73738	0.49464875	0.70773	0.61954224	0.73740	0.49464875	0.70773	-13.991	0.95421	D	.	.	0.998	0.97084	P	.;.;.;.;.;.	.;.;.;.;.;.	1.288935	0.16893	12.83	0.98899659867088185	0.48163	0.32479	0.24596	N	AEFDGBHCI	0.425946	0.49050	N	-0.575959099119209	0.19677	1.031687	-0.660887068078052	0.17942	0.9563054	0.999999886987385	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	-4.33	0.03423	-0.760000	0.04861	-7.833000	0.01078	0.662000	0.56354	0.017000	0.19353	0.000000	0.08366	0.996000	0.76049	0.7124:0.0:0.2876:0.0	14.997	0.71096	923	0.18507	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	429.74	67	chr10	125003368	.	G	C	429.74	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.71;DP=449;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=58.88;MQRankSum=-8.377;QD=2.34;ReadPosRankSum=-2.038;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:86,6:92:27:0|1:125003357_G_A:0,27,3589:125003357	4	0	3	0
chr10	125003382	125003382	C	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.373delG:p.V125Wfs*17,CTBP2:NM_022802:exon2:c.1789delG:p.V597Wfs*17,CTBP2:NM_001321013:exon3:c.169delG:p.V57Wfs*17,CTBP2:NM_001083914:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001290214:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001290215:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001321012:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001321014:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001329:exon4:c.169delG:p.V57Wfs*17	.	420	832	265	5	0	275	0.141826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	818.61	70	chr10	125003381	.	AC	A	818.61	.	AC=5;AF=0.357;AN=14;BaseQRankSum=0.088;DP=460;ExcessHet=4.7409;FS=0.879;MLEAC=5;MLEAF=0.357;MQ=58.87;MQRankSum=-8.474;QD=2.25;ReadPosRankSum=-1.303;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,8:96:71:0|1:125003381_AC_A:71,0,3627:125003381	2	0	5	0
chr10	125003410	125003410	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.G345C:p.E115D,CTBP2:NM_022802:exon2:c.G1761C:p.E587D,CTBP2:NM_001321013:exon3:c.G141C:p.E47D,CTBP2:NM_001083914:exon4:c.G141C:p.E47D,CTBP2:NM_001290214:exon4:c.G141C:p.E47D,CTBP2:NM_001290215:exon4:c.G141C:p.E47D,CTBP2:NM_001321012:exon4:c.G141C:p.E47D,CTBP2:NM_001321014:exon4:c.G141C:p.E47D,CTBP2:NM_001329:exon4:c.G141C:p.E47D	.	421	824	273	4	0	281	0.145671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.0418347474684	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs74705267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.088	0.62352	T	0.043	0.35387	B	0.17	0.48482	B	0.000054	0.53742	D	0.195283	0.999999	0.58761	D	0.98	0.24916	L	0.68	0.51952	T	-2.71	0.59710	D	0.686	0.73555	-0.5581	0.66476	T	0.255	0.62530	T	10	0.56158	0.64817	D	0.041835	0.60142	D	0.261	0.57352	0.434	0.48500	0.881554203603	0.88039	0.972171025341375	0.97206	1.7143308071	0.90477	0.748663306236	0.74250	T	0.62925	0.88488	D	0.139244	0.68253	D	-0.0377626	0.67852	D	0.957904279232025	0.65131	D	0.844016	0.52137	T	0.77675706	0.82455	0.4746194	0.69552	0.77675706	0.82456	0.4746194	0.69552	-14.274	0.93913	D	.	.	0.998	0.98268	P	.;.;.;.;.;.	.;.;.;.;.;.	4.166684	0.62622	24.5	0.99797317996392532	0.88283	0.94867	0.62605	D	AEFDGBHCI	0.781566	0.71311	D	0.172151716873866	0.49864	3.182254	0.205790313476848	0.50167	3.211761	0.999999999997825	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	3.8	0.42887	5.029000	0.63903	1.014000	0.23354	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9225:0.0:0.0775	13.510	0.60961	923	0.18507	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	313.74	61	chr10	125003410	.	C	G	313.74	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-2.1;DP=423;ExcessHet=1.1394;FS=1.933;MLEAC=3;MLEAF=0.214;MQ=58.55;MQRankSum=-7.953;QD=1.79;ReadPosRankSum=1.46;SOR=0.637	GT:AD:DP:GQ:PL	0/0:78,8:86:60:0,60,2250	4	0	3	0
chr10	125003448	125003448	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C307G:p.L103V,CTBP2:NM_022802:exon2:c.C1723G:p.L575V,CTBP2:NM_001321013:exon3:c.C103G:p.L35V,CTBP2:NM_001083914:exon4:c.C103G:p.L35V,CTBP2:NM_001290214:exon4:c.C103G:p.L35V,CTBP2:NM_001290215:exon4:c.C103G:p.L35V,CTBP2:NM_001321012:exon4:c.C103G:p.L35V,CTBP2:NM_001321014:exon4:c.C103G:p.L35V,CTBP2:NM_001329:exon4:c.C103G:p.L35V	.	415	822	281	4	0	289	0.149509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.0482046556134	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs3198920	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.46129	T	0.06	0.70582	T	0.977	0.70673	D	0.695	0.72444	P	0.000204	0.47681	D	0.143597	0.999973	0.53665	D	1.24	0.30952	L	0.56	0.54540	T	-2.77	0.59545	D	0.749	0.74918	-0.7112	0.59893	T	0.257	0.62699	T	10	0.56829476	0.65175	D	0.048205	0.63269	D	0.276	0.59253	0.336	0.32491	0.772200913293	0.77011	0.9284518054969177	0.92823	1.54105169968	0.87712	0.653429269791	0.60473	T	0.450833	0.79179	T	0.0930372	0.63530	D	-0.104135	0.63075	T	0.921929836273193	0.58181	D	0.835916	0.50694	T	0.38344187	0.59564	0.2654763	0.52381	0.38344187	0.59565	0.2654763	0.52380	-11.24	0.86033	D	.	.	0.857	0.85926	P	.;.;.;.;.;.	.;.;.;.;.;.	4.413740	0.68303	25.2	0.95986553857963608	0.28374	0.93332	0.57934	D	AEFDBHCI	0.721280	0.67158	D	0.197166407657861	0.51063	3.290622	0.0912559216929815	0.44107	2.69894	0.999999466762818	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	1.83	0.24279	4.055000	0.57153	3.753000	0.39691	-0.154000	0.11915	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.3038:0.0:0.6962:0.0	9.074	0.35672	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	880.62	55	chr10	125003448	.	G	C	880.62	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.012;DP=391;ExcessHet=6.1542;FS=0.585;MLEAC=5;MLEAF=0.417;MQ=58.6;MQRankSum=-7.5;QD=2.92;ReadPosRankSum=1.08;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:73,5:78:10:0|1:125003425_G_C:0,10,3060:125003425	1	0	5	1
chr10	125003450	125003450	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C305T:p.P102L,CTBP2:NM_022802:exon2:c.C1721T:p.P574L,CTBP2:NM_001321013:exon3:c.C101T:p.P34L,CTBP2:NM_001083914:exon4:c.C101T:p.P34L,CTBP2:NM_001290214:exon4:c.C101T:p.P34L,CTBP2:NM_001290215:exon4:c.C101T:p.P34L,CTBP2:NM_001321012:exon4:c.C101T:p.P34L,CTBP2:NM_001321014:exon4:c.C101T:p.P34L,CTBP2:NM_001329:exon4:c.C101T:p.P34L	.	415	825	279	3	0	285	0.147287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.184870613505	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796256730	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.68238	D	0.003	0.83351	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	N	0.048585	1	0.81001	D	2.215	0.62545	M	0.4	0.57261	T	-9.29	0.98415	D	0.771	0.82559	-0.3944	0.72203	T	0.310	0.68003	T	10	0.77988756	0.77765	D	0.184871	0.85777	D	0.538	0.80664	0.515	0.61459	0.793810481979	0.79189	0.9928132138473921	0.99277	2.02998117833	0.94073	0.801052808762	0.82123	T	0.591617	0.86780	D	0.254993	0.79067	D	0.128504	0.78794	D	0.999326944351196	0.96966	D	0.948805	0.80311	D	0.80739933	0.84383	0.63186806	0.78521	0.80739933	0.84384	0.63186806	0.78522	-10.77	0.87601	D	.	.	0.981	0.91262	P	.;.;.;.;.;.	.;.;.;.;.;.	5.876492	0.93912	33	0.99537415390314665	0.70274	0.97949	0.78358	D	AEFDBHCI	0.949159	0.96151	D	0.396560092074224	0.61236	4.321908	0.310569273267847	0.56158	3.779008	0.999999999991253	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	3.81	0.43020	10.003000	0.99689	11.566000	0.93257	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1423:0.8577:0.0	15.129	0.72177	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	628.04	52	chr10	125003450	.	G	A	628.04	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.277;DP=381;ExcessHet=6.1542;FS=7.682;MLEAC=5;MLEAF=0.417;MQ=58.83;MQRankSum=-7.344;QD=2.12;ReadPosRankSum=0.905;SOR=1.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:71,4:75:46:0|1:125003425_G_C:0,46,3015:125003425	1	0	5	1
chr10	125003454	125003454	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.301delC:p.R101Afs*19,CTBP2:NM_022802:exon2:c.1717delC:p.R573Afs*19,CTBP2:NM_001321013:exon3:c.97delC:p.R33Afs*19,CTBP2:NM_001083914:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001290214:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001290215:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001321012:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001321014:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001329:exon4:c.97delC:p.R33Afs*19	.	418	851	251	2	0	255	0.130301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.007e-07	3.42e-06	0	1.411e-06	.	0	0	.	.	0	0	0	0	1.924e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	622.15	49	chr10	125003453	.	CG	C	622.15	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.012;DP=382;ExcessHet=4.7409;FS=7.698;MLEAC=5;MLEAF=0.357;MQ=58.84;MQRankSum=-7.275;QD=2.09;ReadPosRankSum=0.608;SOR=1.296	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:71,4:75:46:0|1:125003425_G_C:0,46,3015:125003425	2	0	5	0
chr10	125003460	125003460	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C295A:p.H99N,CTBP2:NM_022802:exon2:c.C1711A:p.H571N,CTBP2:NM_001321013:exon3:c.C91A:p.H31N,CTBP2:NM_001083914:exon4:c.C91A:p.H31N,CTBP2:NM_001290214:exon4:c.C91A:p.H31N,CTBP2:NM_001290215:exon4:c.C91A:p.H31N,CTBP2:NM_001321012:exon4:c.C91A:p.H31N,CTBP2:NM_001321014:exon4:c.C91A:p.H31N,CTBP2:NM_001329:exon4:c.C91A:p.H31N	.	415	860	246	1	0	248	0.126016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554	0.0669258259103	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs796388243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.56456	D	0.108	0.50514	T	0.168	0.51467	B	0.138	0.54536	B	0.000186	0.48115	D	0.218873	0.999987	0.54805	D	2.135	0.59519	M	-1.65	0.83737	D	-4.47	0.78388	D	0.766	0.79214	0.171	0.85422	D	0.548	0.83407	D	10	0.6328803	0.68617	D	0.066926	0.70016	D	0.554	0.81601	0.416	0.45544	0.767328355039	0.76520	0.9728822579583015	0.97277	2.0305426451	0.94091	0.756400108337	0.75394	T	0.434559	0.78160	T	0.131495	0.67506	D	-0.0488934	0.67098	D	0.986545503139496	0.77236	D	0.927207	0.73169	D	0.4496781	0.64020	0.3526759	0.60841	0.4496781	0.64021	0.3526759	0.60840	-9.806	0.74846	D	.	.	0.451	0.62246	A	.;.;.;.;.;.	.;.;.;.;.;.	5.089181	0.84970	28.5	0.977327532623396	0.35628	0.98388	0.82268	D	AEFDBHCI	0.954424	0.97151	D	0.316318154352101	0.56987	3.864403	0.376191892726831	0.60101	4.194	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	7.744000	0.83944	8.399000	0.77102	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	649.04	50	chr10	125003460	.	G	T	649.04	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.579;DP=375;ExcessHet=6.1542;FS=7.7;MLEAC=5;MLEAF=0.417;MQ=58.81;MQRankSum=-7.413;QD=2.25;ReadPosRankSum=-0.178;SOR=1.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:71,4:75:46:0|1:125003425_G_C:0,46,3015:125003425	1	0	5	1
chr10	125003466	125003466	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C289A:p.P97T,CTBP2:NM_022802:exon2:c.C1705A:p.P569T,CTBP2:NM_001321013:exon3:c.C85A:p.P29T,CTBP2:NM_001083914:exon4:c.C85A:p.P29T,CTBP2:NM_001290214:exon4:c.C85A:p.P29T,CTBP2:NM_001290215:exon4:c.C85A:p.P29T,CTBP2:NM_001321012:exon4:c.C85A:p.P29T,CTBP2:NM_001321014:exon4:c.C85A:p.P29T,CTBP2:NM_001329:exon4:c.C85A:p.P29T	.	410	877	234	1	0	236	0.118593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.847	0.176108028638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.025	0.64786	D	0.948	0.61912	P	0.514	0.56676	P	0.000117	0.50451	D	0.214717	1	0.81001	D	2.215	0.62545	M	-2.13	0.86349	D	-6.05	0.89796	D	0.689	0.82559	0.518	0.90792	D	0.688	0.89243	D	10	0.8365156	0.82808	D	0.176108	0.85198	D	0.847	0.95249	0.689	0.82653	0.928801495259	0.92807	0.9831479306831125	0.98306	2.09264733632	0.94735	0.676425933838	0.63756	T	0.542494	0.84360	D	0.336779	0.85619	D	0.245983	0.85429	D	0.99172455072403	0.82061	D	0.955104	0.83186	D	0.7142099	0.78840	0.5802387	0.75671	0.7142099	0.78841	0.5802387	0.75672	-5.592	0.70616	T	.	.	0.756	0.75321	P	.;.;.;.;.;.	.;.;.;.;.;.	5.016100	0.83334	28.0	0.99771334295315606	0.85918	0.97924	0.78163	D	AEFDBHCI	0.917308	0.88472	D	0.627757786435649	0.74937	6.218313	0.643900769394684	0.78156	6.820169	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	9.883000	0.98528	11.568000	0.93268	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	572.04	49	chr10	125003466	.	G	T	572.04	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.115;DP=368;ExcessHet=6.1542;FS=7.971;MLEAC=5;MLEAF=0.417;MQ=58.91;MQRankSum=-7.549;QD=2.01;ReadPosRankSum=-0.536;SOR=1.323	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:71,4:75:46:0|1:125003425_G_C:0,46,3015:125003425	1	0	5	1
chr10	125003468	125003468	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.G287T:p.G96V,CTBP2:NM_022802:exon2:c.G1703T:p.G568V,CTBP2:NM_001321013:exon3:c.G83T:p.G28V,CTBP2:NM_001083914:exon4:c.G83T:p.G28V,CTBP2:NM_001290214:exon4:c.G83T:p.G28V,CTBP2:NM_001290215:exon4:c.G83T:p.G28V,CTBP2:NM_001321012:exon4:c.G83T:p.G28V,CTBP2:NM_001321014:exon4:c.G83T:p.G28V,CTBP2:NM_001329:exon4:c.G83T:p.G28V	.	413	879	229	1	0	231	0.116139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.808	0.205810925829	7.9e-05	.	9.126e-06	0	0	0	0	1.654e-05	0	0	6.5e-06	1	154602	rs368195398	7.039e-07	2.052e-06	0	1.418e-06	1.229e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.229e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	4.831e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.831e-05	0	0	0	0	0	0	0	0	0	0.002	0.91255	D	0.003	0.83351	D	0.758	0.56768	P	0.345	0.52270	B	0.000015	0.62929	D	0.153474	1	0.81001	D	2.215	0.62545	M	-2.07	0.87116	D	-6.7	0.93786	D	0.885	0.91162	0.404	0.89161	D	0.665	0.88381	D	10	0.9020648	0.89569	D	0.205811	0.87005	D	0.808	0.93777	.	.	0.940972417782	0.94036	0.9830957384624965	0.98301	0.580823813372	0.53909	0.771838724613	0.77700	T	0.670241	0.90204	D	0.414705	0.90739	D	0.357919	0.90623	D	0.97039270401001	0.68933	D	0.830817	0.50504	T	0.82183003	0.85343	0.73988026	0.84624	0.82183003	0.85344	0.73988026	0.84625	-14.257	0.93861	D	.	.	0.903	0.82932	P	.;.;.;.;.;.	.;.;.;.;.;.	5.052849	0.84171	28.2	0.99572167466560413	0.72440	0.94853	0.62557	D	AEFDBHCI	0.865967	0.78524	D	0.502445831928042	0.67234	5.054572	0.519224250986091	0.69285	5.338541	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	4.865000	0.62695	5.821000	0.50083	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	569.04	51	chr10	125003468	.	C	A	569.04	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.798;DP=359;ExcessHet=6.1542;FS=10.58;MLEAC=5;MLEAF=0.417;MQ=58.82;MQRankSum=-7.616;QD=1.99;ReadPosRankSum=-0.893;SOR=1.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:66,0:66:99:.:.:0,120,1800:.	1	0	5	1
chr10	125003470	125003470	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C285A:p.N95K,CTBP2:NM_022802:exon2:c.C1701A:p.N567K,CTBP2:NM_001321013:exon3:c.C81A:p.N27K,CTBP2:NM_001083914:exon4:c.C81A:p.N27K,CTBP2:NM_001290214:exon4:c.C81A:p.N27K,CTBP2:NM_001290215:exon4:c.C81A:p.N27K,CTBP2:NM_001321012:exon4:c.C81A:p.N27K,CTBP2:NM_001321014:exon4:c.C81A:p.N27K,CTBP2:NM_001329:exon4:c.C81A:p.N27K	.	414	877	230	1	0	232	0.116818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	0.196846434944	.	.	.	.	.	.	.	.	.	.	.	.	.	rs797010536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.53172	T	0.133	0.38160	T	0.024	0.52359	B	0.023	0.49136	B	0.000107	0.50451	N	0.228572	0.999907	0.50806	D	0.84	0.21119	L	-1.74	0.85173	D	-4.45	0.77717	D	0.707	0.80572	-0.1451	0.79039	T	0.509	0.81527	D	10	0.6498769	0.69541	D	0.196846	0.86503	D	0.443	0.74588	0.388	0.40951	0.817883718107	0.81616	0.9725668737270228	0.97245	0.555298206099	0.52229	0.665825009346	0.62241	T	0.506962	0.82492	D	0.0861848	0.62758	D	-0.113978	0.62294	T	0.98187917470932	0.74162	D	0.883312	0.60567	D	0.2881824	0.51823	0.250968	0.50698	0.2881824	0.51823	0.250968	0.50697	-15.247	0.96521	D	.	.	0.973	0.89808	P	.;.;.;.;.;.	.;.;.;.;.;.	4.647796	0.74053	26.1	0.9874692024541335	0.45587	0.88075	0.47847	D	AEFDBHCI	0.574998	0.57756	D	-0.046368544377228	0.39764	2.350313	0.00799731341758868	0.40086	2.38672	0.999998763134182	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	2.83	0.32150	1.613000	0.36512	7.263000	0.57966	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1598:0.0:0.6829:0.1573	5.756	0.17440	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	560.04	50	chr10	125003470	.	G	T	560.04	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.632;DP=353;ExcessHet=6.1542;FS=9.008;MLEAC=5;MLEAF=0.417;MQ=58.84;MQRankSum=-7.514;QD=2.04;ReadPosRankSum=-0.874;SOR=1.456	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:66,0:66:99:.:.:0,120,1800:.	1	0	5	1
chr10	125003481	125003481	G	A	exonic	CTBP2	.	stopgain	CTBP2:NM_001363508:exon2:c.C274T:p.Q92X,CTBP2:NM_022802:exon2:c.C1690T:p.Q564X,CTBP2:NM_001321013:exon3:c.C70T:p.Q24X,CTBP2:NM_001083914:exon4:c.C70T:p.Q24X,CTBP2:NM_001290214:exon4:c.C70T:p.Q24X,CTBP2:NM_001290215:exon4:c.C70T:p.Q24X,CTBP2:NM_001321012:exon4:c.C70T:p.Q24X,CTBP2:NM_001321014:exon4:c.C70T:p.Q24X,CTBP2:NM_001329:exon4:c.C70T:p.Q24X	.	405	1111	6	0	0	6	0.002693	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000116	0.50451	D	0.191765	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.87	0.88356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.567668	0.96476	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.;.;.	.;High;.;.;.;.	11.606090	0.99947	54	0.99834869762320466	0.91628	0.98687	0.85586	D	AEFDBHCI	0.360541	0.45047	N	1.17611805747486	0.99300	21.77164	1.01261087230075	0.98856	19.63335	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	9.818000	0.98285	11.569000	0.93274	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	222.46	44	chr10	125003481	.	G	A	222.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.46;DP=347;ExcessHet=0;FS=16.967;MLEAC=1;MLEAF=0.071;MQ=57.91;MQRankSum=-6.689;QD=3.9;ReadPosRankSum=-1.685;SOR=3.979	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:75,0:75:99:.:.:0,120,1800:.	6	0	1	0
chr10	125003491	125003491	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_022802:exon2:c.T1680A:p.S560R	.	420	1097	5	0	0	5	0.00227376	0.0001	0.09	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.477	0.214387794182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.016	0.60972	D	0.813	0.45457	P	0.409	0.44752	B	0.120212	0.19044	N	0.623124	1	0.81001	D	.	.	.	-1.85	0.84267	D	-1.69	0.40274	N	0.82	0.81559	-0.1913	0.77895	T	0.489	0.80565	T	9	0.75226426	0.75723	D	0.214388	0.87455	D	0.477	0.76881	0.427	0.47350	0.792541464948	0.79061	0.6253988332573677	0.62472	0.162367538727	0.18315	0.613913297653	0.54869	T	.	.	.	0.0835129	0.62450	D	-0.117816	0.61982	T	0.946590483188629	0.62503	D	0.790821	0.43180	T	.	.	.	.	.	.	.	.	-6.658	0.51493	T	.	.	0.947	0.86575	P	.	.	3.457030	0.48168	22.6	0.99726346640516361	0.82406	0.87670	0.47287	D	AEFDBHCI	0.334004	0.43291	N	0.43266425900824	0.63228	4.552434	0.267884646439281	0.53674	3.535174	0.999994960590163	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	0.586	0.16618	2.212000	0.42474	2.756000	0.34570	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.905000	0.44082	0.7154:0.0:0.2846:0.0	9.132	0.36011	922	0.19044	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	233.25	43	chr10	125003491	.	A	T	233.25	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.81;DP=323;ExcessHet=0;FS=29.144;MLEAC=1;MLEAF=0.1;MQ=59.21;MQRankSum=-6.402;QD=4.32;ReadPosRankSum=-1.02;SOR=4.762	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:71,0:71:0:.:.:0,0,1513:.	4	0	1	2
chr10	125003493	125003493	-	TCACAAATTCTGTCCAA	splicing	CTBP2	NM_001290214:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001321013:exon3:c.59-1->TTGGACAGAATTTGTGA;NM_001329:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001290215:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001321012:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001321014:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001083914:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001363508:exon2:c.263-1->TTGGACAGAATTTGTGA;NM_022802:exon2:c.1679-1->TTGGACAGAATTTGTGA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	194.2	43	chr10	125003493	.	C	CTCACAAATTCTGTCCAA	194.2	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.54;DP=319;ExcessHet=0;FS=27.243;MLEAC=1;MLEAF=0.1;MQ=59.07;MQRankSum=-7.089;QD=3.73;ReadPosRankSum=-2.503;SOR=4.62	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:70,0:70:0:.:.:0,0,1498:.	4	0	1	2
chr10	125026481	125026481	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_022802:exon1:c.G1279A:p.G427S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0464020825168	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1220937197	3.452e-06	4.104e-06	1.369e-06	5.571e-06	1.17e-05	1.01e-06	7.4e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.72e-06	1.677e-05	1.17e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.14595	T	0.866	0.03352	T	0.001	0.07471	B	0.003	0.08700	B	0.857793	0.08917	N	0.914285	1	0.08975	N	.	.	.	-1.65	0.82625	D	-0.13	0.08971	N	0.1	0.08227	-0.8530	0.51760	T	0.299	0.67017	T	9	0.07425532	0.11326	T	0.046402	0.62442	D	0.130	0.35528	0.137	0.04097	0.39864871254	0.39479	0.25837417294265497	0.25751	0.114889616539	0.12965	0.496607422829	0.38354	T	.	.	.	-0.101673	0.36147	T	-0.383823	0.35275	T	0.0859812870621681	0.10734	T	0.50185	0.15733	T	.	.	.	.	.	.	.	.	-2.796	0.08147	T	.	.	0.082	0.08560	B	.	.	1.664200	0.21222	15.10	0.96689435360712239	0.30730	0.09798	0.15472	N	AEFBCI	0.048702	0.08338	N	-0.849799369303216	0.12055	0.5852998	-0.884821861941347	0.12453	0.6406584	0.999820420139951	0.43622	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.714379	0.83352	0	.	.	3.95	2.08	0.26079	0.498000	0.22238	2.331000	0.32195	0.549000	0.26987	0.004000	0.16614	0.014000	0.20376	0.089000	0.17737	0.0:0.5854:0.0:0.4146	6.561	0.21685	915	0.20917	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	395.63	27	chr10	125026481	.	C	T	395.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.37;DP=224;ExcessHet=0;FS=3.817;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.49;ReadPosRankSum=-2.228;SOR=0.524	GT:AD:DP:GQ:PL	0/1:42,19:61:99:406,0,1007	6	0	1	0
chr10	125039033	125039033	T	A	exonic	CTBP2	.	stopgain	CTBP2:NM_001321013:exon2:c.A22T:p.K8X,CTBP2:NM_001083914:exon3:c.A22T:p.K8X,CTBP2:NM_001290214:exon3:c.A22T:p.K8X,CTBP2:NM_001290215:exon3:c.A22T:p.K8X,CTBP2:NM_001321012:exon3:c.A22T:p.K8X,CTBP2:NM_001321014:exon3:c.A22T:p.K8X,CTBP2:NM_001329:exon3:c.A22T:p.K8X	.	432	1023	67	0	0	67	0.0317085	.	.	.	1330655	not_specified|Pulmonary_artery_atresia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001537	4	26028	rs76555439	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.903	0.90363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47795	0.93627	D	0.448766	0.93547	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	9.829600	0.99355	43	0.99586803091769216	0.73336	0.87743	0.47386	D	AEFGBHCI	0.077324	0.15576	N	0.854919915911592	0.89387	9.950527	0.733718632913773	0.84935	8.434	0.999999999999905	0.74766	0.645754	0.44609	0	0.627178	0.54094	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.743000	0.68032	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.2857	559.84	107	chr10	125039033	.	T	A	559.84	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.429;DP=535;ExcessHet=2.5225;FS=0;MLEAC=4;MLEAF=0.286;MQ=58.53;MQRankSum=-9.804;QD=1.29;ReadPosRankSum=-0.327;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1079:.	3	0	4	0
chr10	125039035	125039035	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001321013:exon2:c.A20G:p.H7R,CTBP2:NM_001083914:exon3:c.A20G:p.H7R,CTBP2:NM_001290214:exon3:c.A20G:p.H7R,CTBP2:NM_001290215:exon3:c.A20G:p.H7R,CTBP2:NM_001321012:exon3:c.A20G:p.H7R,CTBP2:NM_001321014:exon3:c.A20G:p.H7R,CTBP2:NM_001329:exon3:c.A20G:p.H7R	.	434	1022	66	0	0	66	0.0312796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.0169483827955	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001921	5	26028	rs78849795	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.15509	T	0.911	0.02952	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.976171	0.25390	N	1.155	0.29575	L	-1.53	0.81559	D	-0.28	0.11547	N	0.556	0.58117	-0.7162	0.59649	T	0.384	0.73988	T	9	0.2395181	0.41094	T	0.016948	0.38442	T	0.314	0.63588	0.302	0.27003	0.989459454501	0.98934	.	.	.	.	.	.	.	0.157543	0.50018	T	0.164577	0.70624	D	-0.00137324	0.70247	D	0.378074373079758	0.28108	T	0.886111	0.61235	D	0.15569115	0.35175	0.15271002	0.35916	0.15569115	0.35174	0.15271002	0.35915	-2.736	0.07610	T	.	.	0.160	0.48978	B	.;.;.;.	.;.;.;.	3.581586	0.50496	23.0	0.96844956273467708	0.31320	0.86671	0.46001	D	AEFGBHCI	0.757168	0.69621	D	-0.0152146198236119	0.41167	2.457583	0.165997750048251	0.47996	3.021633	0.999999999999905	0.74766	0.645754	0.44609	0	0.60822	0.50512	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.749000	0.68113	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	559.84	107	chr10	125039035	.	T	C	559.84	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.575;DP=527;ExcessHet=2.5225;FS=0;MLEAC=4;MLEAF=0.286;MQ=58.5;MQRankSum=-9.804;QD=1.29;ReadPosRankSum=-0.048;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1079:.	3	0	4	0
chr10	125725688	125725688	T	G	exonic	EDRF1	.	nonsynonymous SNV	EDRF1:NM_001202438:exon6:c.T642G:p.N214K,EDRF1:NM_015608:exon6:c.T642G:p.N214K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.00642898600588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	0.10623	T	0.236	0.24694	T	0.998	0.73220	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.99983	0.49637	D	1.21	0.30464	L	.	.	.	-0.15	0.09297	N	0.885	0.88356	-1.0177	0.24463	T	0.077	0.30859	T	9	0.6298068	0.68451	D	0.006429	0.16927	T	0.198	0.48105	0.409	0.44395	0.478222008075	0.47454	0.5410329179227342	0.54028	1.26243223783	0.82077	.	.	.	0.014336	0.12223	T	-0.0498051	0.44478	T	-0.309318	0.43732	T	0.672710478305817	0.39459	D	0.938306	0.76795	D	0.07670945	0.17367	0.10674878	0.25686	0.07670945	0.17366	0.10674878	0.25685	-2.626	0.09396	T	.	.	0.479	0.67694	A	.;.	.;.	3.565727	0.50190	22.9	0.99337690922260236	0.60051	0.98689	0.85611	D	AEFBI	0.387598	0.46752	N	-0.160051034084586	0.34809	1.991385	-0.114478193647137	0.34807	2.006316	0.774539732105523	0.23729	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.85	1.12	0.19700	2.431000	0.44433	-0.030000	0.12807	0.665000	0.62972	1.000000	0.71638	0.915000	0.28207	0.995000	0.73285	0.0:0.2183:0.0:0.7817	8.953	0.34963	958	0.09170	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	949.27	24	chr10	125725688	.	T	G	949.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.142;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=16.09;ReadPosRankSum=0.729;SOR=0.586	GT:AD:DP:GQ:PL	0/1:22,37:59:99:959,0,528	5	0	1	1
chr10	125859758	125859758	C	T	exonic	DHX32	.	nonsynonymous SNV	DHX32:NM_018180:exon3:c.G694A:p.V232M	.	430	1090	2	0	0	2	0.00091659	.	.	.	1462179	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.184	0.00864235651168	7.7e-05	.	0.0003	0	8.637e-05	0.0001	0	0.0001	0	0.0015	0.0002199	34	154602	rs368692405	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0011	0.0010	5.974e-05	4.472e-05	0.0008	0.0003	0	0.0017	7.914e-05	0.0004	0.0013	0.0001	0.0001	6.427e-05	0.0002	0.0006	7.583e-05	6.287e-05	0.0002	9.007e-05	2.416e-05	0	6.545e-05	0.0006	0	0	0	0.0002	0	0.0006	0.039	0.42487	D	0.08	0.41913	T	0.93	0.51791	P	0.191	0.36391	B	0.065132	0.21903	N	0.478949	0.752039	0.29628	N	2.455	0.71248	M	2.14	0.19450	T	-1.21	0.30762	N	0.258	0.29197	-0.8975	0.48244	T	0.126	0.43112	T	10	0.04130611	0.02775	T	0.008642	0.22829	T	0.184	0.45763	.	.	0.446510307777	0.44274	0.36675737830681443	0.36589	0.281262430898	0.30601	0.344441562891	0.17100	T	0.141621	0.47677	T	-0.449549	0.01136	T	-0.464074	0.26158	T	0.0606883793537044	0.07277	T	0.846115	0.52582	T	0.05722129	0.11359	0.07216455	0.15538	0.05722129	0.11359	0.07216455	0.15538	-9.133	0.68549	D	.	.	0.117	0.23918	B	.	.	3.484000	0.48668	22.7	0.91467083949721328	0.20738	0.52409	0.29125	D	AEFGBI	0.202316	0.32891	N	-0.49159725905741	0.22356	1.193124	-0.565432884083291	0.20396	1.098729	0.999005654070081	0.38186	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.99	3.12	0.34986	1.079000	0.30378	3.938000	0.40583	-0.889000	0.02397	0.466000	0.26691	0.995000	0.32472	0.871000	0.41478	0.2119:0.7881:0.0:0.0	16.121	0.81166	952	0.10565	Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	1924.45	35	chr10	125859758	.	C	T	1924.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.57;DP=341;ExcessHet=0;FS=0.58;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=0.303;SOR=0.622	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1179	6	0	1	0
chr10	126504376	126504376	A	G	exonic	C10orf90	.	nonsynonymous SNV	C10orf90:NM_001004298:exon3:c.T824C:p.I275T,C10orf90:NM_001350921:exon4:c.T1115C:p.I372T,C10orf90:NM_001350922:exon4:c.T1115C:p.I372T,C10orf90:NM_001350923:exon4:c.T1115C:p.I372T	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0108829565352	7.7e-05	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs377632627	8.209e-06	8.209e-06	1.089e-05	5.5e-06	0.0002	4.38e-06	3.46e-06	2.62e-06	1.68e-06	2.987e-05	0	0	0	0	0.0002	6.295e-06	4.967e-05	0	6.571e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.008	0.58626	D	0.026	0.56192	D	0.013	0.16609	B	0.013	0.16460	B	0.010500	0.01277	N	2.462730	1	0.08975	N	1.15	0.29295	L	1.97	0.22067	T	-0.68	0.22727	N	0.299	0.34874	-1.0158	0.25078	T	0.061	0.25635	T	10	0.067527086	0.09421	T	0.010883	0.27915	T	0.068	0.19811	.	.	0.107399877778	0.10242	0.24000607798377072	0.23914	0.114228325199	0.12879	.	.	.	0.093493	0.42537	T	-0.364113	0.03903	T	-0.653142	0.08735	T	0.0757102337677171	0.09430	T	0.447355	0.12562	T	0.06332164	0.13322	0.047479544	0.06847	0.06332164	0.13322	0.047479544	0.06847	-2.199	0.04035	T	.	.	0.080	0.17445	B	.;.;.	.;.;.	1.177069	0.15673	12.02	0.69566592272239725	0.09013	0.06508	0.12519	N	ALL	0.109797	0.21796	N	-1.1407539030112	0.05933	0.2718296	-1.1991941234995	0.05924	0.2836599	0.999999246565619	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.505578	0.09266	0	0.691587	0.68394	0	.	.	5.26	-1.27	0.08863	2.113000	0.41525	0.383000	0.17802	-0.576000	0.04747	0.004000	0.16614	0.000000	0.08366	0.000000	0.00833	0.5563:0.1408:0.3029:0.0	5.376	0.15466	609	0.67094	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1026.44	36	chr10	126504376	.	A	G	1026.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.9;DP=307;ExcessHet=0;FS=1.765;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.524;SOR=0.914	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1151	6	0	1	0
chr10	127000232	127000232	G	A	exonic	DOCK1	.	nonsynonymous SNV	DOCK1:NM_001377548:exon9:c.G826A:p.V276M,DOCK1:NM_001290223:exon10:c.G910A:p.V304M,DOCK1:NM_001377543:exon10:c.G910A:p.V304M,DOCK1:NM_001377546:exon10:c.G910A:p.V304M,DOCK1:NM_001377547:exon10:c.G910A:p.V304M,DOCK1:NM_001377550:exon10:c.G910A:p.V304M,DOCK1:NM_001377553:exon10:c.G910A:p.V304M,DOCK1:NM_001377554:exon10:c.G910A:p.V304M,DOCK1:NM_001377556:exon10:c.G910A:p.V304M,DOCK1:NM_001377558:exon10:c.G910A:p.V304M,DOCK1:NM_001377561:exon10:c.G910A:p.V304M,DOCK1:NM_001380:exon10:c.G910A:p.V304M,DOCK1:NM_001377544:exon11:c.G946A:p.V316M	.	437	1078	7	0	0	7	0.00323625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.046347622442	0.0002	0.000798722	0.0004	0.0001	0	0.0007	0	0.0003	0	0.0015	0.0003622	56	154602	rs140885933	0.0002	0.0002	0.0002	0.0003	0.0014	0.0002	0.0002	0.0008	0.0007	8.961e-05	2.236e-05	0	0.0005	0	0.0014	0.0002	0.0002	0.0010	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0001	0.0005	0.0004	9.62e-05	0	6.534e-05	0	0.0002	0	0	0.0003	0.0005	0.0012	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.968	0.71741	D	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	2.395	0.69210	M	2.21	0.18414	T	-2.34	0.51811	N	0.747	0.79986	-0.7829	0.56138	T	0.141	0.46128	T	10	0.14782885	0.28004	T	0.046348	0.62414	D	0.249	0.55752	.	.	0.760220652421	0.75804	0.51917120791775	0.51840	0.579807686353	0.53841	0.838862717152	0.87922	D	0.226574	0.59164	T	-0.261796	0.12691	T	-0.209426	0.53750	T	0.125348836183548	0.14946	T	0.964104	0.87634	D	0.46630123	0.65063	0.43444094	0.66963	0.46630123	0.65063	0.43444094	0.66964	-10.843	0.78789	D	.	.	0.338	0.57367	B	.;.	.;.	5.314227	0.89205	29.9	0.99912686714736221	0.98167	0.97933	0.78233	D	AEFBI	0.870116	0.79095	D	0.792486105364203	0.85633	8.634673	0.701042066268976	0.82458	7.771916	0.999937248686193	0.46732	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.0	4.0	0.45673	8.016000	0.88334	11.550000	0.93175	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	17.431	0.87431	947	0.11584	Dedicator of cytokinesis, N-terminal domain;Dedicator of cytokinesis, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.1429	111.4	33	chr10	127000232	.	G	A	111.4	.	AC=2;AF=0.143;AN=14;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=27.85;SOR=0.693	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1237	6	1	0	0
chr10	128103845	128103845	C	A	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_001145966:exon12:c.G6915T:p.R2305S,MKI67:NM_002417:exon13:c.G7995T:p.R2665S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00304000781951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.37966	T	0.076	0.42614	T	0.02	0.18235	B	0.023	0.19966	B	0.068037	0.02218	N	2.335820	1	0.08975	N	1.545	0.39105	L	4.34	0.02341	T	-0.94	0.25118	N	0.124	0.22098	-0.9184	0.45770	T	0.009	0.03403	T	10	0.053896427	0.05653	T	0.00304	0.06547	T	0.030	0.07022	0.467	0.53891	0.0986583533028	0.09354	0.05316243130698162	0.05258	0.0538137297912	0.05943	0.222512871027	0.01460	T	0.007769	0.07155	T	-0.261519	0.12723	T	-0.613431	0.11708	T	0.123242326080799	0.14744	T	0.50155	0.16142	T	0.16738437	0.37132	0.06672539	0.13707	0.16738437	0.37132	0.06672539	0.13707	-8.265	0.62861	D	.	.	0.487	0.63997	A	.;.	.;.	1.294319	0.16952	12.87	0.95841820495715901	0.27968	0.04637	0.10304	N	AEFBCI	0.036615	0.04908	N	-1.1269313518103	0.06168	0.2832149	-1.21590134363242	0.05654	0.2699915	0.999605903124332	0.40866	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	2.4	-0.597	0.11069	-0.229000	0.09106	-2.180000	0.04096	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.059000	0.15899	0.4339:0.3447:0.2213:0.0	3.996	0.09050	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2778.44	90	chr10	128103845	.	C	A	2778.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.857;DP=809;ExcessHet=0;FS=0.508;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=1.36;SOR=0.762	GT:AD:DP:GQ:PL	0/1:99,109:208:99:2789,0,2620	6	0	1	0
chr10	131166856	131166856	G	A	exonic	TCERG1L	.	nonsynonymous SNV	TCERG1L:NM_174937:exon5:c.C886T:p.R296C	.	422	1080	20	0	0	20	0.00917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0002	0.00399361	0.0023	0.0003	0.0004	0	0	0.0004	0.0046	0.0148	0.0020828	322	154602	rs140533955	0.0012	0.0012	0.0007	0.0017	0.0155	0.0012	0.0012	0.0148	0.0145	0.0002	0.0003	7.652e-05	0.0001	0	0.0076	0.0003	0.0017	0.0155	0.0007	0.0007	0.0005	0.0009	0.0149	0.0006	0.0005	0.0122	0.0111	7.215e-05	0	0.0002	0	0	0	0	0.0004	0.0009	0.0149	0.125	0.27310	T	0.039	0.51112	D	0.0	0.02946	B	0.0	0.01387	B	0.676126	0.10298	N	0.835585	1	0.08975	N	-0.77	0.01674	N	1.89	0.23688	T	0.88	0.01664	N	0.154	0.15888	-1.0090	0.27230	T	0.020	0.08313	T	10	0.0048452616	0.00103	T	.	.	.	0.035	0.08770	.	.	0.0806252709748	0.07271	0.527596657307229	0.52683	0.144877207135	0.16365	0.365255862474	0.20148	T	0.001547	0.00986	T	-0.631067	0.00094	T	-0.666936	0.07806	T	0.00386785938519685	0.00041	T	0.615039	0.23503	T	0.04266499	0.06510	0.032138523	0.01904	0.04266499	0.06510	0.032138523	0.01903	-5.23	0.39245	T	.	.	0.081	0.08320	B	.	.	-0.386863	0.02263	0.233	0.8808417742267507	0.17704	0.00357	0.01833	N	AEFBI	0.031351	0.03330	N	-1.60939364842222	0.01218	0.05297706	-1.69043314844492	0.01180	0.05311048	0.337431296324123	0.19549	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	2.4	-4.8	0.02957	-0.954000	0.03983	-0.952000	0.06810	-0.633000	0.04490	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6124:0.1645:0.2231:0.0	5.700	0.17150	984	0.02857	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.005051	0.000000	0.005848	0.000000	0.000000	0.003049	0.015152	0.1429	1800.24	90	chr10	131166856	.	G	A	1800.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.689;DP=313;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=1.64;SOR=0.643	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1202	5	0	2	0
chr10	131311523	131311525	GGC	-	exonic	TCERG1L	.	nonframeshift deletion	TCERG1L:NM_174937:exon1:c.111_113del:p.P38del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1385507759	0.0003	0.0027	0.0002	0.0004	0.0020	0.0003	0.0003	0.0013	0.0012	0.0002	0.0020	0.0006	0.0006	0.0010	0	0.0002	0.0003	0.0017	0	2.638e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	50.28	12	chr10	131311522	.	GGGC	G	50.28	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.549;DP=72;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.03;ReadPosRankSum=-0.319;SOR=0.368	GT:AD:DP:GQ:PL	0/0:19,0:19:57:0,57,547	5	0	1	1
chr10	131970666	131970666	G	A	exonic	BNIP3	.	nonsynonymous SNV	BNIP3:NM_004052:exon5:c.C706T:p.L236F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.00838545504326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.191	0.43721	T	.	.	.	.	.	.	0.000120	0.50451	D	0.147023	0.999994	0.58761	D	.	.	.	.	.	.	.	.	.	0.602	0.62018	-0.2121	0.77359	T	0.400	0.75130	T	9	0.41379318	0.56404	T	0.008385	0.22181	T	0.238	0.54217	.	.	0.500994481783	0.49735	0.7413383291708545	0.74079	1.09635788658	0.77590	0.638146281242	0.58300	T	.	.	.	0.0403246	0.57090	T	-0.179853	0.56537	T	0.949204385280609	0.63062	D	0.939006	0.77019	D	0.1524084	0.34598	0.15168965	0.35721	0.1524084	0.34597	0.15168965	0.35720	-9.261	0.69362	D	.	.	0.42	0.60667	A	.;.	.;.	4.232503	0.64109	24.7	0.99833933437728273	0.91542	0.86824	0.46190	D	AEFDBCI	0.298286	0.40764	N	0.509261380632509	0.67634	5.108092	0.447473131187209	0.64554	4.713309	0.999388797983373	0.39415	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.3	4.3	0.50540	1.356000	0.33683	9.651000	0.81171	0.672000	0.70159	0.999000	0.42656	1.000000	0.68203	0.904000	0.43992	0.0:0.0:1.0:0.0	17.659	0.88088	955	0.09969	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	83.23	33	chr10	131970666	.	G	A	83.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.094;DP=723;ExcessHet=0;FS=144.906;MLEAC=1;MLEAF=0.083;MQ=59.75;MQRankSum=0.352;QD=0.3;ReadPosRankSum=2.63;SOR=9.27	GT:AD:DP:GQ:PL	0/1:204,74:278:93:93,0,3534	5	0	1	1
chr10	131981872	131981872	G	A	exonic	BNIP3	.	nonsynonymous SNV	BNIP3:NM_004052:exon1:c.C130T:p.P44S	.	403	1098	19	2	0	23	0.010365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00459265	.	.	.	.	.	.	.	.	0.0033041	86	26028	rs572410005	0.0041	0.0044	0.0034	0.0048	0.0277	0.0040	0.0039	0.0265	0.0261	0.0007	0.0009	0.0023	3.661e-05	0.0277	0.0050	0.0023	0.0035	0.0277	0.0054	0.0054	0.0032	0.0077	0.0190	0.0051	0.0049	0.0159	0.0147	0.0004	0	0.0006	0.0012	0.0002	0.0467	0.0034	0.0028	0.0019	0.0190	.	.	.	0.07	0.43721	T	.	.	.	.	.	.	.	.	.	.	0.999916	0.19599	N	.	.	.	.	.	.	.	.	.	0.07	0.04307	.	.	.	.	.	.	.	0.0038288534	0.00072	T	.	.	.	.	.	.	.	.	.	0.2150976367720552	0.21425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352165	0.08539	T	0.023533164	0.01101	0.062835746	0.12354	0.023533164	0.01101	0.062835746	0.12354	-4.085	0.25068	T	.	.	0.075	0.05491	B	.;.	.;.	0.285013	0.06619	3.111	0.91888445491352655	0.21207	0.15096	0.18742	N	ALL	.	.	.	.	.	.	.	.	.	0.999999999842911	0.74766	0.255962	0.04286	0	0.098	0.03038	0	0.217501	0.04623	0	0.159066	0.04077	0	0.124127	0.25079	2.77	-5.54	0.02343	-3.767000	0.00418	-5.246000	0.01791	-1.323000	0.01224	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2517:0.299:0.2083:0.241	0.368	0.00348	968	0.07033	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	650.27	25	chr10	131981872	.	G	A	650.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.575;DP=210;ExcessHet=0;FS=1.07;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=0.19;SOR=0.906	GT:AD:DP:GQ:PL	0/1:22,29:51:99:660,0,526	5	0	1	1
chr10	132366886	132366886	G	C	exonic	LRRC27	.	nonsynonymous SNV	LRRC27:NM_001309474:exon10:c.G1076C:p.G359A	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.000538411025272	.	.	0.0002	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs753781734	8.818e-06	6.84e-06	5.193e-06	1.258e-05	0.0002	4.46e-06	3.25e-06	6.18e-05	4.636e-05	0	0	0	0	0	0.0002	0	0	0.0001	1.971e-05	1.97e-05	0	4.034e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1193.45	34	chr10	132366886	.	G	C	1193.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.627;DP=326;ExcessHet=0;FS=2.398;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=0.874;SOR=0.931	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1232	6	0	1	0
chr10	132404783	132404783	G	A	exonic	PWWP2B	.	nonsynonymous SNV	PWWP2B:NM_001098637:exon2:c.G283A:p.E95K,PWWP2B:NM_138499:exon2:c.G283A:p.E95K	.	428	1087	7	0	0	7	0.00320954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0327256510079	0.0035	0.00139776	0.0048	0.0007	0.0014	0	0.0089	0.0070	0.0043	0.0019	0.0037516	580	154602	rs199872085	0.0066	0.0064	0.0067	0.0065	0.0077	0.0065	0.0064	0.0075	0.0075	0.0005	0.0016	0.0010	2.744e-05	0.0081	0.0018	0.0077	0.0061	0.0024	0.0054	0.0051	0.0056	0.0052	0.0092	0.0050	0.0049	0.0085	0.0082	0.0010	0	0.0014	0.0007	0	0.0122	0.0040	0.0092	0.0033	0.0018	0.338	0.12796	T	0.6	0.11933	T	0.892	0.49086	P	0.163	0.34892	B	0.264667	0.03732	N	1.724340	0.999938	0.19363	N	0	0.06538	N	0.55	0.54728	T	-0.29	0.11728	N	0.051	0.05162	-1.0548	0.13093	T	0.043	0.18410	T	10	0.004287362	0.00086	T	0.032726	0.54474	D	0.058	0.16647	.	.	0.128874641272	0.12493	0.20427679856389042	0.20344	0.662413389895	0.58972	0.54086971283	0.44568	T	0.005955	0.05392	T	-0.654162	0.00068	T	-0.70787	0.05406	T	0.00374503688154403	0.00040	T	0.460954	0.13351	T	0.038982812	0.05298	0.040384356	0.04352	0.038982812	0.05298	0.040384356	0.04352	-5.125	0.38170	T	.	.	0.08	0.07793	B	.;.	.;.	0.910828	0.12853	9.365	0.9587886172419966	0.28068	0.02418	0.06834	N	AEFDBI	0.034963	0.04420	N	-1.09059294672234	0.06815	0.3148317	-1.20301146191289	0.05861	0.2804899	0.998214054219011	0.36589	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	3.07	-0.469	0.11536	0.327000	0.19408	0.678000	0.20656	-0.119000	0.14319	0.001000	0.13787	0.005000	0.19230	0.002000	0.04165	0.5702:0.0:0.4298:0.0	6.863	0.23261	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002037	0.000000	0.000000	0.000000	0.000000	0.000000	0.003086	0.007752	0.08333	362.27	32	chr10	132404783	.	G	A	362.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.07;DP=252;ExcessHet=0;FS=3.102;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-1.102;SOR=1.329	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	5	0	1	1
chr10	132810995	132810995	G	A	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon56:c.C7538T:p.S2513F	.	413	1105	4	0	0	4	0.00180668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0451430446258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.001	0.83351	D	.	.	.	.	.	.	0.256780	0.15396	N	0.516876	1	0.08975	N	.	.	.	1.37	0.34253	T	-1.92	0.44657	N	0.418	0.45803	-0.9331	0.43680	T	0.165	0.50209	T	10	0.34378678	0.51384	T	0.045143	0.61838	D	0.206	0.49396	.	.	0.223847106136	0.22009	0.19744161446319972	0.19661	0.50304780445	0.48651	0.443925738335	0.31114	T	0.060438	0.31388	T	-0.129381	0.31597	T	-0.423624	0.30660	T	0.533969057498574	0.33880	D	0.773323	0.40460	T	0.09733194	0.22940	0.1056815	0.25409	0.09733194	0.22940	0.1056815	0.25408	-3.3	0.13737	T	.	.	0.865	0.80562	P	.	.	3.488893	0.48758	22.7	0.99649748772695024	0.77192	0.62737	0.31872	D	AEFDBCI	0.293991	0.40448	N	0.178821242932616	0.50183	3.210787	-0.0187231161888746	0.38871	2.296295	0.00233198622259661	0.09333	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	2.86	2.86	0.32427	0.696000	0.25220	10.297000	0.83275	0.618000	0.50648	0.001000	0.13787	1.000000	0.68203	0.010000	0.09038	0.0:0.0:1.0:0.0	9.405	0.37616	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1093.63	60	chr10	132810995	.	G	A	1093.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.11;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.23;ReadPosRankSum=0.074;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1099:.	6	0	1	0
chr10	132877923	132877923	-	TCCTTCTCTTTACTCCTCTCATTC	exonic	CFAP46	.	nonframeshift insertion	CFAP46:NM_001200049:exon30:c.4169_4170insGAATGAGAGGAGTAAAGAGAAGGA:p.K1389_D1390insENERSKEK	.	435	1033	46	8	0	62	0.0291353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0229	0.0011	0.0102	0.0020	0	0.0170	0.0617	0.0319	0.0008837	23	26028	rs752660068	0.0053	0.0051	0.0041	0.0065	0.0285	0.0052	0.0051	0.0265	0.0261	0.0011	0.0060	0.0189	0.0003	0.0019	0.0285	0.0035	0.0080	0.0275	0.0066	0.0068	0.0069	0.0062	0.0248	0.0062	0.0061	0.0211	0.0198	0.0014	0.0157	0.0080	0.0237	0.0004	0.0011	0.0171	0.0084	0.0086	0.0248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	971.61	22	chr10	132877923	.	G	GTCCTTCTCTTTACTCCTCTCATTC	971.61	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.824;DP=188;ExcessHet=0.3476;FS=1.117;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=19.83;ReadPosRankSum=1.14;SOR=0.606	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	5	0	2	0
chr10	132878077	132878077	A	G	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon30:c.T4016C:p.M1339T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00831835880868	.	0.000399361	0.0007	0	0	0	0	0	0	0.0016	9.06e-05	14	154602	rs568720350	8.385e-05	8.003e-05	3.957e-05	0.0001	0.0014	7.124e-05	6.657e-05	0.0012	0.0011	0	0	0	0	0	0.0002	9.279e-07	8.641e-05	0.0014	5.923e-05	5.913e-05	0	0.0001	0.0019	3.082e-05	2.213e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.1	0.08283	T	0.54	0.02764	N	0.042	0.01498	-0.9628	0.38645	T	0.039	0.16763	T	6	0.008067936	0.00183	T	0.008318	0.22029	T	0.010	0.01040	0.356	0.35734	0.0138822411134	0.00435	0.037289757961124534	0.03675	0.125826400157	0.14181	0.342087209225	0.16751	T	0.002772	0.02166	T	-0.749152	0.00018	T	-0.867896	0.00762	T	0.0174816203769544	0.00484	T	0.328467	0.06836	T	0.032960474	0.03421	0.109342955	0.26352	0.032960474	0.03420	0.109342955	0.26351	-0.886	0.00882	T	.	.	0.097	0.15966	B	.	.	-1.231838	0.00500	0.011	0.18402929762225825	0.00577	0.00826	0.03330	N	AEFBI	0.026414	0.01980	N	-1.35163426376618	0.03108	0.1383115	-1.56087499145107	0.01902	0.08675116	5.73476432677801E-4	0.07363	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.09	-4.99	0.02785	-0.836000	0.04489	-2.043000	0.04299	-0.745000	0.03636	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.3087:0.0:0.6913:0.0	11.751	0.51117	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	723.54	30	chr10	132878077	.	A	G	723.54	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.216;DP=197;ExcessHet=0;FS=1.116;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=-0.347;SOR=0.48	GT:AD:DP:GQ:PL	0/1:20,30:50:99:734,0,475	6	0	1	0
chr10	132937034	132937034	C	T	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon7:c.G682A:p.E228K	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0128340334372	0.0003	0.000199681	0.0014	0	0.0001	0.0001	0.0076	0.0015	0.0044	0.0009	0.0009832	152	154602	rs146174575	0.0007	0.0007	0.0007	0.0007	0.0005	0.0006	0.0006	0.0004	0.0004	3.096e-05	0.0002	0.0001	2.641e-05	0.0068	0.0005	0.0005	0.0006	0.0005	0.0007	0.0007	0.0006	0.0008	0.0007	0.0006	0.0006	0.0005	0.0005	0	0	0.0004	0	0	0.0051	0	0.0007	0	0.0002	0.895	0.02966	T	0.282	0.32783	T	.	.	.	.	.	.	0.057913	0.02103	N	2.829600	1	0.08975	N	.	.	.	0.58	0.54149	T	-1.23	0.33798	N	0.167	0.17691	-0.9841	0.34045	T	0.151	0.47997	T	10	0.003954619	0.00076	T	0.012834	0.31741	T	0.090	0.26093	.	.	0.0138822411134	0.00435	0.11036115281515887	0.10965	0.126400502665	0.14248	0.353846907616	0.18486	T	0.029792	0.21268	T	-0.568739	0.00225	T	-0.640172	0.09656	T	0.0134084749832872	0.00243	T	0.412159	0.10864	T	0.03520338	0.04098	0.04727474	0.06773	0.03520338	0.04098	0.04727474	0.06772	-4.037	0.24355	T	.	.	0.078	0.10256	B	.;.	.;.	0.952596	0.13286	9.789	0.81790524747129223	0.13861	0.02756	0.07444	N	AEFBI	0.066970	0.13142	N	-1.41216877284635	0.02531	0.1118885	-1.45825508064171	0.02696	0.1244903	1.23045082060441E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	3.74	0.749	0.17530	0.472000	0.21827	0.292000	0.16883	-1.143000	0.01438	0.002000	0.15269	0.000000	0.08366	0.075000	0.16954	0.0:0.8709:0.0:0.1291	11.245	0.48221	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1042.44	33	chr10	132937034	.	C	T	1042.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.15;DP=280;ExcessHet=0;FS=4.844;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=-0.423;SOR=0.377	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1143	6	0	1	0
chr10	133237921	133237921	C	T	exonic	VENTX	.	nonsynonymous SNV	VENTX:NM_014468:exon1:c.C7T:p.L3F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0027	0.00279553	0.0015	0.0223	0.0003	0	0	7.574e-05	0	0	0.0009832	152	154602	rs201492574	0.0004	0.0004	0.0005	0.0003	0.0150	0.0004	0.0004	0.0139	0.0135	0.0150	0.0004	3.865e-05	0	0	0.0005	9.94e-06	0.0008	0	0.0037	0.0037	0.0037	0.0036	0.0130	0.0034	0.0033	0.0121	0.0117	0.0130	0	0.0007	0	0	0	0	5.88e-05	0.0009	0	0.009	0.57480	D	0.053	0.47336	T	0.389	0.34565	B	0.099	0.30579	B	0.907753	0.08574	U	0.936230	1	0.08975	N	0.55	0.14455	N	0.49	0.55775	T	-0.66	0.19085	N	0.09	0.06854	-1.0448	0.15884	T	0.056	0.23639	T	10	0.004489094	0.00092	T	.	.	.	0.060	0.17295	.	.	0.399889258716	0.39604	0.3620558094306964	0.36119	0.168808123631	0.19032	0.51234459877	0.40550	T	0.002728	0.02125	T	-0.539704	0.00336	T	-0.536347	0.18658	T	0.00970941713085676	0.00127	T	0.39826	0.10085	T	0.07141933	0.15810	0.07103458	0.15162	0.07141933	0.15810	0.07103458	0.15162	-4.558	0.31640	T	.	.	0.074	0.05060	B	.	.	1.322736	0.17269	13.06	0.94697557191724124	0.25346	0.14372	0.18368	N	AEFDBHI	0.044818	0.07259	N	-0.887741267168794	0.11134	0.5356485	-0.992842526721353	0.09945	0.4978343	0.999950365979662	0.48110	0.652421	0.48094	0	0.59043	0.45803	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	1.9	0.893	0.18369	1.057000	0.30102	0.544000	0.19360	0.489000	0.22316	0.001000	0.13787	0.014000	0.20376	0.002000	0.04165	0.3414:0.6585:0.0:0.0	5.232	0.14747	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000545	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	243.27	18	chr10	133237921	.	C	T	243.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.548;DP=125;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=2.54;SOR=0.859	GT:AD:DP:GQ:PL	0/0:28,0:28:84:0,84,739	5	0	1	1
chr10	133240280	133240280	A	G	exonic	VENTX	.	nonsynonymous SNV	VENTX:NM_014468:exon3:c.A751G:p.M251V	.	421	1040	61	0	0	61	0.0284914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	0.0027	0.00559105	0.0065	0.0011	0.0042	0	0.0002	0.0053	0.0040	0.0235	0.0053298	824	154602	rs148086757	0.0049	0.0049	0.0043	0.0056	0.0441	0.0048	0.0048	0.0395	0.0378	0.0017	0.0062	0.0122	5.087e-05	0.0002	0.0441	0.0037	0.0069	0.0211	0.0049	0.0049	0.0046	0.0052	0.0150	0.0046	0.0045	0.0122	0.0112	0.0008	0.0650	0.0130	0.0161	0.0002	9.445e-05	0.0514	0.0043	0.0066	0.0150	0.006	0.61437	D	0.122	0.35710	T	0.0	0.02946	B	0.001	0.04355	B	0.176135	0.17233	U	0.369811	1	0.08975	N	0	0.06538	N	-2.59	0.89822	D	-0.17	0.09627	N	0.122	0.11340	-0.6701	0.61824	T	0.301	0.67232	T	10	0.0030415654	0.00050	T	.	.	.	0.141	0.37795	.	.	0.460085558651	0.45632	0.09206645746996407	0.09139	0.0854921300487	0.09661	0.353580713272	0.18448	T	0.001414	0.00874	T	-0.475129	0.00790	T	-0.43901	0.28920	T	0.00320643787163532	0.00034	T	0.207379	0.02472	T	0.23485649	0.46313	0.116778955	0.28192	0.23485649	0.46313	0.116778955	0.28191	-2.023	0.03269	T	.	.	0.070	0.03515	B	.	.	-0.060916	0.03882	0.846	0.44043438297786625	0.03358	0.00875	0.03461	N	AEFBI	0.026237	0.01933	N	-1.29613371137322	0.03722	0.1667575	-1.32367044325818	0.04126	0.1939608	0.315819230129744	0.19334	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	2.96	0.867	0.18222	-0.336000	0.07908	-0.342000	0.09808	-0.187000	0.09635	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4764:0.5236:0.0:0.0	7.658	0.27555	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.039859	0.071429	0.047684	0.055556	0.000000	0.017241	0.015337	0.015152	0.08333	568.27	30	chr10	133240280	.	A	G	568.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.198;DP=199;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-1.81;SOR=0.76	GT:AD:DP:GQ:PL	0/0:33,0:33:93:0,93,1395	5	0	1	1
chr10	133532153	133532153	G	A	exonic	CYP2E1	.	nonsynonymous SNV	CYP2E1:NM_000773:exon4:c.G517A:p.G173S	.	423	1054	41	4	0	49	0.0227167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	.	0.0016	0.00219649	0.0035	0.0004	0.0013	0.0002	0.0005	0.0023	0.0044	0.0149	0.0031759	491	154602	rs60452492	0.0025	0.0025	0.0021	0.0029	0.0154	0.0024	0.0024	0.0147	0.0144	0.0002	0.0011	0.0080	0.0002	0.0005	0.0090	0.0016	0.0031	0.0154	0.0016	0.0016	0.0014	0.0018	0.0146	0.0015	0.0014	0.0118	0.0108	0.0005	0	0.0018	0.0075	0	0.0004	0.0034	0.0014	0.0019	0.0146	0.755	0.06145	T	0.773	0.06643	T	1.0	0.90584	D	1.0	0.97372	D	0.000002	0.62929	D	0.166180	0.791814	0.81001	D	1.07	0.27075	L	-0.22	0.66474	T	-2.8	0.65397	D	0.061	0.03283	-0.7936	0.55520	T	0.201	0.55737	T	10	0.007817626	0.00177	T	.	.	.	0.280	0.59740	.	.	0.709176414936	0.70664	0.5636643323569762	0.56293	1.0264605321	0.75294	0.411144316196	0.26615	T	0.390271	0.75049	T	-0.423312	0.01630	T	-0.369159	0.36987	T	0.0578869794120568	0.06831	T	0.872413	0.59112	D	0.50080454	0.67142	0.23776327	0.49082	0.50080454	0.67143	0.23776327	0.49081	-5.062	0.37505	T	.	.	0.188	0.44986	B	.;.;.;.	.;.;.;.	2.884045	0.38170	20.7	0.99060141632020249	0.51459	0.68786	0.33935	D	AEFDBI	0.825157	0.74490	D	0.0103509905861311	0.42325	2.548068	-0.0130856296977882	0.39122	2.314954	0.999433092208	0.39683	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	4.59	4.59	0.56297	3.226000	0.50956	3.498000	0.38759	0.674000	0.70861	0.583000	0.27610	1.000000	0.68203	0.004000	0.06068	0.0982:0.0:0.9018:0.0	8.844	0.34318	994	0.00715	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.000000	0.002717	0.000000	0.000000	0.017241	0.009146	0.030303	0.1429	168.55	37	chr10	133532153	.	G	A	168.55	.	AC=2;AF=0.143;AN=14;DP=211;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=33.71;SOR=1.022	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1194	6	1	0	0
chr11	551741	551741	C	T	exonic	LRRC56	.	nonsynonymous SNV	LRRC56:NM_198075:exon10:c.C887T:p.S296F	.	412	1059	49	2	0	53	0.0244127	.	.	.	1566203	LRRC56-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.104	.	0.0025	0.00878594	0.0071	0.0007	0.0025	0.0004	0.0005	0.0040	0.0162	0.0334	0.0065846	1018	154602	rs139348192	0.0056	0.0057	0.0049	0.0065	0.0340	0.0055	0.0055	0.0330	0.0326	0.0007	0.0020	0.0049	0.0002	0.0006	0.0142	0.0041	0.0064	0.0340	0.0039	0.0039	0.0038	0.0039	0.0342	0.0036	0.0035	0.0299	0.0283	0.0008	0	0.0022	0.0052	0	0.0002	0.0068	0.0048	0.0043	0.0342	0.004	0.65419	D	0.031	0.53788	D	0.989	0.62824	D	0.809	0.58564	P	0.020131	0.27106	N	0.349867	0.999995	0.08975	N	2.665	0.77964	M	2.62	0.12988	T	-2.4	0.52776	N	0.461	0.49783	-1.1131	0.02817	T	0.046	0.19680	T	10	0.0036670566	0.00067	T	.	.	.	0.104	0.29647	.	.	0.376921832658	0.37306	0.40103892264460156	0.40018	.	.	0.481672912836	0.36288	T	0.012776	0.11168	T	-0.475094	0.00791	T	-0.430841	0.29840	T	0.0282370238378752	0.01722	T	0.677032	0.28590	T	0.10101317	0.23857	0.13709292	0.32779	0.10101317	0.23857	0.13709292	0.32778	-5.382	0.40746	T	0.7726946834992914	0.85352	0.153	0.33913	B	.	.	3.203815	0.43583	21.8	0.99637721640869203	0.76449	0.37578	0.25793	N	AEFDGBHCI	0.138923	0.26037	N	0.110799777074831	0.46966	2.929038	0.0309368537939218	0.41158	2.468169	0.999999974760928	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.14	4.14	0.47821	2.008000	0.40513	5.577000	0.48958	0.599000	0.40250	0.007000	0.17678	0.960000	0.29291	0.005000	0.06747	0.0:1.0:0.0:0.0	11.786	0.51314	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.000000	0.008174	0.005917	0.050000	0.000000	0.033537	0.022727	0.1429	2271.29	34	chr11	551741	.	C	T	2271.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.08;DP=346;ExcessHet=0.3476;FS=3.903;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.409;SOR=0.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1137:.	5	0	2	0
chr11	615282	615282	A	G	exonic	IRF7	.	nonsynonymous SNV	IRF7:NM_004031:exon2:c.T37C:p.S13P	.	396	1124	2	0	0	2	0.000888889	.	.	.	640198	Immunodeficiency_39|not_specified	MONDO:MONDO:0014597,MedGen:C4225358,OMIM:616345,Orphanet:574918|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.159	0.01264091558	.	.	0.0001	0	0	0	0	0.0002	0	0	3.88e-05	6	154602	rs750684733	5.82e-05	5.951e-05	5.004e-05	6.649e-05	0.0004	4.793e-05	4.408e-05	6.161e-05	4.796e-05	3.042e-05	2.379e-05	0	0	0	0.0004	6.464e-05	6.77e-05	4.762e-05	5.258e-05	5.254e-05	3.855e-05	6.726e-05	0.0001	2.558e-05	1.83e-05	3.762e-05	2.575e-05	0	0	0.0001	0	0	0	0	8.82e-05	0	0	0.0	0.91255	D	0.181	0.29346	T	0.0	0.02946	B	0.0	0.01387	B	0.000001	0.00162	N	48.322000	1	0.18198	N	.	.	.	-3.92	0.96078	D	-0.25	0.11008	N	0.103	0.13198	-0.1912	0.77898	T	0.577	0.84760	D	9	0.053250432	0.05485	T	0.012641	0.31390	T	0.159	0.41286	0.27	0.21893	0.210429274316	0.20668	0.21393844617507177	0.21309	0.132666713148	0.14947	.	.	.	0.007416	0.06827	T	-0.218353	0.18219	T	-0.303117	0.44394	T	0.675817549228668	0.39598	D	0.417258	0.10990	T	.	.	.	.	.	.	.	.	-2.529	0.05983	T	.	.	0.074	0.04975	B	.;.;.;.	.;.;.;.	0.521540	0.08901	5.683	0.91356833006911964	0.20621	0.00648	0.02824	N	AEFDGBCI	0.045999	0.07588	N	-1.51938454650321	0.01722	0.07538505	-1.58637284815453	0.01738	0.07904997	0.999999961800197	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.239995	0.05000	1	0.375	0.06713	1	.	.	3.52	-4.27	0.03486	0.161000	0.16298	-0.060000	0.12436	-0.249000	0.07183	0.001000	0.13787	0.001000	0.17328	0.001000	0.02609	0.4109:0.158:0.2712:0.1599	0.912	0.01214	923	0.18507	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001520	0.005155	0.001362	0.000000	0.000000	0.000000	0.003067	0.003788	0.07143	570.83	13	chr11	615282	.	A	G	570.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.691;DP=188;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.675;SOR=0.66	GT:AD:DP:GQ:PL	0/1:22,28:50:99:581,0,566	6	0	1	0
chr11	640090	640090	G	0	exonic	DRD4	.	.	.	Autonomic nervous system dysfunction (3)	623	857	15	8	19	50	0.017765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	485.63	12	chr11	640090	.	G	*	485.63	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.293;DP=107;ExcessHet=0.4139;FS=2.577;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=0.769;SOR=1.27	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:8,0:8:0:.:.:0,0,179:.	3	0	1	3
chr11	640099	640099	A	0	exonic	DRD4	.	.	.	Autonomic nervous system dysfunction (3)	654	794	37	18	19	92	0.0439494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	522.63	15	chr11	640099	.	A	*	522.63	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.574;DP=116;ExcessHet=0.4139;FS=4.211;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=0.56;SOR=1.358	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:8,0:8:0:.:.:0,0,227:.	3	0	1	3
chr11	688048	688048	G	C	exonic	DEAF1	.	nonsynonymous SNV	DEAF1:NM_001293634:exon4:c.C527G:p.S176C,DEAF1:NM_021008:exon4:c.C527G:p.S176C	Mental retardation, autosomal dominant 24, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.0205343924269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.036	0.52060	D	0.0	0.02946	B	0.0	0.01387	B	0.000202	0.47681	N	0.142496	0.778589	0.34238	D	1.87	0.49600	L	-0.27	0.67367	T	-1.65	0.39503	N	0.213	0.23758	-0.8118	0.54442	T	0.167	0.50518	T	10	0.17017576	0.31667	T	0.020534	0.43144	T	0.114	0.32008	0.293	0.25560	0.762667321472	0.76050	0.7263197216113774	0.72575	0.58778103844	0.54343	0.593663811684	0.52011	T	0.336139	0.70568	T	-0.0963287	0.37032	T	-0.376146	0.36172	T	0.874187886714935	0.52404	D	0.761924	0.38711	T	0.08879092	0.20723	0.091409385	0.21490	0.08879092	0.20723	0.091409385	0.21490	-6.302	0.48738	T	0.1431884826060597	0.16256	0.081	0.08176	B	.	.	3.462355	0.48268	22.6	0.94980513396789368	0.25919	0.97229	0.73454	D	AEFDBI	0.717115	0.66873	D	-0.161621045531967	0.34742	1.986743	0.0077609156840293	0.40073	2.385892	0.955011933045826	0.28164	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.63	3.71	0.41733	6.170000	0.71810	9.048000	0.78632	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.0:0.3403:0.6597:0.0	12.693	0.56352	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1396.34	33	chr11	688048	.	G	C	1396.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.072;DP=263;ExcessHet=0.3476;FS=5.397;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=0.59;SOR=0.366	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1142	5	0	2	0
chr11	866625	866625	G	A	exonic	TSPAN4	.	nonsynonymous SNV	TSPAN4:NM_001025238:exon8:c.G712A:p.A238T,TSPAN4:NM_001025239:exon8:c.G520A:p.A174T,TSPAN4:NM_001025234:exon9:c.G712A:p.A238T,TSPAN4:NM_001025235:exon9:c.G712A:p.A238T,TSPAN4:NM_001025236:exon9:c.G712A:p.A238T,TSPAN4:NM_001025237:exon9:c.G712A:p.A238T,TSPAN4:NM_003271:exon9:c.G712A:p.A238T	.	419	1096	7	0	0	7	0.00318327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.0402346795513	0.0028	0.00139776	0.0022	0.0009	0.0019	0	0.0003	0.0035	0.0012	6.403e-05	0.0022639	350	154602	rs141360844	0.0033	0.0033	0.0034	0.0032	0.0075	0.0032	0.0032	0.0057	0.0051	0.0007	0.0023	0.0077	2.524e-05	0.0009	0.0075	0.0038	0.0034	0.0001	0.0025	0.0025	0.0027	0.0022	0.0036	0.0023	0.0022	0.0032	0.0031	0.0010	0.0011	0.0029	0.0069	0	0.0003	0.0136	0.0036	0.0057	0	0.0	0.91255	D	0.0	0.92824	D	0.96	0.55278	D	0.302	0.41118	B	.	.	.	.	0.971996	0.40074	D	0.65	0.16133	N	1.25	0.48142	T	-0.38	0.14588	N	0.148	0.31253	-1.0506	0.14230	T	0.051	0.21689	T	9	0.0068392158	0.00155	T	0.040235	0.59263	D	0.124	0.34239	.	.	0.277730125212	0.27379	0.6991727849766166	0.69858	0.296259426705	0.32010	0.511959254742	0.40496	T	0.020946	0.16402	T	-0.412174	0.01923	T	-0.367257	0.37210	T	0.0367746028653149	0.03116	T	0.881612	0.60121	D	0.081580564	0.18751	0.17816259	0.40467	0.081580564	0.18751	0.17816259	0.40466	-7.036	0.54296	T	.	.	0.092	0.15564	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.585709	0.33535	19.37	0.99502428138580923	0.68089	0.81372	0.40789	D	AEFDBHCI	0.736084	0.68170	D	-0.249051094884133	0.31142	1.743243	-0.283949720418294	0.28625	1.597577	0.999988518683506	0.51787	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.2	3.27	0.36580	1.741000	0.37862	4.261000	0.42805	-0.174000	0.10959	0.912000	0.31733	1.000000	0.68203	0.072000	0.16771	0.0945:0.0:0.9055:0.0	10.239	0.42479	878	0.29785	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009596	0.015152	0.020436	0.005882	0.000000	0.000000	0.000000	0.000000	0.07143	73.44	37	chr11	866625	.	G	A	73.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.282;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=1.28;SOR=0.223	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	6	0	1	0
chr11	1016754	1016754	A	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.T6047C:p.L2016S	.	326	1191	4	1	0	6	0.00251256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00122751741629	.	.	0.0001	0	0.0004	0.0002	0.0002	8.991e-05	0	0	9.06e-05	14	154602	rs765235657	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.344e-05	0.0033	0	2.758e-05	6.77e-05	2.23e-06	8.4e-07	.	.	0	0	6.77e-05	0	0	0	0	1.505e-05	0	0	0.72	0.03926	T	0.773	0.04431	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.49	0.02651	N	2.5	0.14408	T	1.54	0.00702	N	0.035	0.01004	-0.9221	0.45265	T	0.007	0.02244	T	9	0.018025696	0.00389	T	0.001228	0.01633	T	0.010	0.01040	.	.	0.119812018005	0.11559	0.07226537620689691	0.07163	0.404426802055	0.41344	0.160760015249	0.00011	T	0.010105	0.09154	T	-0.421762	0.01667	T	-0.843608	0.01046	T	0.031014709657127	0.02148	T	.	.	.	0.027541755	0.01962	0.037763994	0.03500	0.027541755	0.01961	0.037763994	0.03500	-7.298	0.56181	T	.	.	0.065	0.01960	B	.	.	0.821211	0.11926	8.487	0.68619141914431547	0.08714	0.00225	0.01265	N	AEFDGBCI	0.016805	0.00401	N	-1.72405579209422	0.00760	0.03281666	-1.67379838365755	0.01258	0.05669341	0.99998905767838	0.51787	0.751926	0.98777	0	0.639134	0.57113	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	2.8	-1.39	0.08526	-0.048000	0.11898	0.011000	0.13441	-0.745000	0.03636	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2589:0.1879:0.5532:0.0	4.421	0.10908	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	318.44	550	chr11	1016754	.	A	G	318.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.27;DP=3728;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=55.1;MQRankSum=-7.765;QD=1.04;ReadPosRankSum=-1.545;SOR=0.708	GT:AD:DP:GQ:PL	0/0:878,0:878:99:0,120,1800	6	0	1	0
chr11	1016881	1016881	C	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.G5920A:p.G1974R	.	282	1233	6	1	0	8	0.00323363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00103325632618	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1282982114	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.019	0.50132	D	0.126	0.35205	T	0.239	0.30839	B	0.114	0.31755	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	2.27	0.17431	T	-1.05	0.27463	N	0.078	0.05287	-0.9842	0.34022	T	0.026	0.11220	T	9	0.06405285	0.08436	T	0.001033	0.01144	T	0.036	0.09122	0.338	0.32816	0.192905019026	0.18896	0.14932920051736123	0.14854	0.521877933732	0.49939	0.205686062574	0.00641	T	0.030745	0.21720	T	-0.30016	0.08644	T	-0.668936	0.07676	T	0.149228978490301	0.17042	T	.	.	.	0.11304487	0.26702	0.06163316	0.11934	0.11304487	0.26702	0.06163316	0.11933	-7.981	0.60941	D	.	.	0.118	0.23952	B	.	.	1.233689	0.16288	12.44	0.76633010661181944	0.11547	0.03963	0.09370	N	AEFDGBCI	0.041382	0.06283	N	-1.28708027589074	0.03830	0.1718021	-1.45389755068842	0.02735	0.1263413	0.999999866413803	0.74766	0.675202	0.55065	0	0.639134	0.57113	0	0.67197	0.60751	0	0.264475	0.05362	3	.	.	2.03	-4.06	0.03718	-0.118000	0.10665	0.000000	0.13247	0.545000	0.25583	0.000000	0.06391	0.011000	0.20116	0.001000	0.02609	0.1633:0.5026:0.3341:0.0	7.679	0.27672	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	154.44	525	chr11	1016881	.	C	T	154.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.41;DP=4336;ExcessHet=0;FS=4.255;MLEAC=1;MLEAF=0.071;MQ=56.36;MQRankSum=-6.023;QD=0.56;ReadPosRankSum=-2.181;SOR=1.025	GT:AD:DP:GQ:PL	0/0:993,0:993:99:0,120,1800	6	0	1	0
chr11	1017757	1017757	G	C	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C5044G:p.L1682V	.	345	982	192	1	2	196	0.0898981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00213510693467	.	.	.	.	.	.	.	.	.	.	.	.	.	rs79198757	6.983e-07	1.574e-05	1.388e-06	0	9.14e-07	0	0	.	.	0	0	0	0	0	0	9.14e-07	0	0	0	0.0009	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.075	0.34444	T	0.44	0.13328	T	0.007	0.14184	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	2.24	0.17923	T	0.08	0.06026	N	0.032	0.00825	-0.9478	0.41347	T	0.018	0.07423	T	9	0.05399272	0.05679	T	0.002135	0.03962	T	0.006	0.00375	.	.	0.163833314356	0.15978	0.06941283035713278	0.06879	0.0894955809572	0.10113	0.175648033619	0.00060	T	0.020274	0.15991	T	-0.266298	0.12172	T	-0.620295	0.11162	T	0.144849189737094	0.16686	T	.	.	.	0.04678791	0.07891	0.073207155	0.15881	0.04678791	0.07891	0.073207155	0.15881	-7.088	0.54674	T	.	.	0.071	0.03773	B	.	.	0.537745	0.09066	5.846	0.27983464666671348	0.01415	0.06097	0.12072	N	AEFDGBCI	0.029553	0.02811	N	-1.28891088933583	0.03808	0.170769	-1.35273483076499	0.03774	0.1767243	0.999986779026299	0.51787	0.004792	0.00041	3	0.008208	0.00037	3	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.79	-0.615	0.11005	0.197000	0.16999	-5.159000	0.01826	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.4083:0.5917	5.758	0.17453	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	2243.08	863	chr11	1017757	.	G	C	2243.08	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.724;DP=4798;ExcessHet=1.1394;FS=1.65;MLEAC=2;MLEAF=0.167;MQ=57.61;MQRankSum=-12.36;QD=1.73;ReadPosRankSum=1.66;SOR=0.953	GT:AD:DP:GQ:PL	0/0:1115,0:1115:99:0,120,1800	4	0	2	1
chr11	1017790	1017790	T	C	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.A5011G:p.M1671V	.	353	1167	2	0	0	2	0.000856164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00206868014145	.	.	.	.	.	.	.	.	.	.	.	.	.	rs553011039	0	1.644e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0005	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.908	0.02378	T	0.616	0.07543	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.12	0.28775	L	2.45	0.15028	T	0.52	0.02853	N	0.043	0.01577	-0.9518	0.40660	T	0.015	0.06234	T	9	0.04430124	0.03372	T	0.002069	0.03801	T	0.009	0.00846	0.215	0.13498	0.128392430309	0.12331	0.1698396690787368	0.16903	0.0903522985447	0.10192	0.189743891358	0.00220	T	0.00904	0.08254	T	-0.263823	0.12457	T	-0.61674	0.11443	T	0.0995563883410625	0.12308	T	.	.	.	0.08071921	0.18509	0.09361893	0.22120	0.08071921	0.18508	0.09361893	0.22120	-4.909	0.35836	T	.	.	0.068	0.02639	B	.	.	-1.187701	0.00543	0.013	0.27800630014354044	0.01397	0.00823	0.03322	N	AEFDGBCI	0.015391	0.00291	N	-1.49328543186723	0.01897	0.08324014	-1.57596161061009	0.01803	0.08209328	0.999991288406582	0.74766	0.004792	0.00041	3	0.008208	0.00037	3	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.31	-1.76	0.07574	-0.699000	0.05188	-20.000000	0.00162	0.366000	0.20181	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3071:0.4386:0.0:0.2543	1.845	0.02967	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	61.44	819	chr11	1017790	.	T	C	61.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.805;DP=5068;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=56.17;MQRankSum=-4.264;QD=1.71;ReadPosRankSum=1;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:979,0:979:99:.:.:0,120,1800:.	6	0	1	0
chr11	1017980	1017980	G	C	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4821G:p.H1607Q	.	377	1113	31	0	1	32	0.013735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00294131736266	.	.	.	.	.	.	.	.	.	.	.	.	.	rs77536353	0	1.71e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.071	0.35165	T	0.546	0.09555	T	0.963	0.55692	D	0.828	0.59497	P	.	.	.	.	1	0.08975	N	2.125	0.59049	M	2.29	0.17113	T	-0.52	0.16187	N	0.064	0.03613	-1.0438	0.16177	T	0.055	0.23072	T	9	0.11826384	0.22355	T	0.002941	0.06250	T	0.018	0.03083	0.176	0.08257	0.338834610459	0.33488	0.12495968873936728	0.12421	0.089077498397	0.10066	0.168520405889	0.00027	T	0.028716	0.20737	T	-0.37366	0.03413	T	-0.774513	0.02623	T	0.0780681323622793	0.09738	T	.	.	.	0.03696404	0.04647	0.047161993	0.06733	0.03696404	0.04647	0.047161993	0.06733	-7.978	0.60920	D	.	.	0.096	0.15475	B	.	.	0.227088	0.06087	2.531	0.53594529813230063	0.04970	0.02502	0.06989	N	AEFDGBCI	0.045586	0.07473	N	-0.61535458523796	0.18482	0.9599189	-0.889736591911147	0.12336	0.6339777	0.98217000833971	0.30362	0.660377	0.49826	0	0.694456	0.67091	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.39	-0.544	0.11254	-0.991000	0.03839	-20.000000	0.00162	-0.293000	0.06271	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2309:0.2258:0.5434:0.0	3.857	0.08487	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	215.44	311	chr11	1017980	.	G	C	215.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.41;DP=1840;ExcessHet=0;FS=10.093;MLEAC=1;MLEAF=0.071;MQ=53.89;MQRankSum=-5.092;QD=0.93;ReadPosRankSum=-1.809;SOR=1.805	GT:AD:DP:GQ:PL	0/0:474,0:474:99:0,120,1800	6	0	1	0
chr11	1018222	1018222	-	GTGGAGGG	exonic	MUC6	.	frameshift insertion	MUC6:NM_005961:exon31:c.4578_4579insCCCTCCAC:p.S1527Pfs*68	.	408	367	728	0	19	747	0.497948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.409e-05	0.0004	1.38e-05	1.44e-05	7.024e-05	2.34e-06	8.8e-07	.	.	0	0	7.024e-05	0	0	0	0	1.572e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4302.92	123	chr11	1018222	.	A	AGTGGAGGG	4302.92	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.62;DP=1068;ExcessHet=8.2628;FS=9.569;MLEAC=1;MLEAF=0.071;MQ=57.21;MQRankSum=-6.354;QD=4.42;ReadPosRankSum=1.15;SOR=1.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:183,0:225:99:0|1:1018116_T_G:1213,1764,9448:1018116	6	0	1	0
chr11	1018227	1018227	-	GAGGTTTTG	exonic	MUC6	.	nonframeshift insertion	MUC6:NM_005961:exon31:c.4573_4574insCAAAACCTC:p.S1524_L1525insPKP	.	407	1107	6	0	2	8	0.0027027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1199616524	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	2.072e-05	0.0009	2.702e-05	1.414e-05	6.925e-05	5.51e-06	2.53e-06	5.11e-06	1.91e-06	0	0	6.925e-05	0	0	0	0	3.08e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	361.38	121	chr11	1018227	.	A	AGAGGTTTTG	361.38	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.251;DP=1034;ExcessHet=0.3476;FS=4.944;MLEAC=1;MLEAF=0.083;MQ=56.67;MQRankSum=-6.8;QD=1.02;ReadPosRankSum=-0.022;SOR=0.872	GT:AD:DP:GQ:PL	0/0:219,0:219:99:0,120,1800	5	0	1	1
chr11	1018227	1018227	A	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	361.38	121	chr11	1018227	.	A	*	361.38	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.251;DP=1034;ExcessHet=0.3476;FS=4.944;MLEAC=1;MLEAF=0.083;MQ=56.67;MQRankSum=-6.8;QD=1.02;ReadPosRankSum=-0.022;SOR=0.872	GT:AD:DP:GQ:PL	0/0:219,0:219:99:0,120,1800	5	0	1	1
chr11	1018228	1018228	G	0	exonic	MUC6	.	.	.	.	413	954	154	0	1	155	0.0746848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	260.59	117	chr11	1018228	.	G	*	260.59	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.89;DP=1044;ExcessHet=2.5225;FS=20.798;MLEAC=2;MLEAF=0.167;MQ=56.67;MQRankSum=-5.217;QD=0.45;ReadPosRankSum=-0.817;SOR=2.571	GT:AD:DP:GQ:PL	0/0:219,0:219:99:0,120,1800	4	0	2	1
chr11	1018229	1018229	-	TGTGCTGATT	exonic	MUC6	.	frameshift insertion	MUC6:NM_005961:exon31:c.4571_4572insAATCAGCACA:p.L1525Ifs*15	.	422	238	855	0	7	862	0.642374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1298195017	7.842e-07	7.301e-05	1.577e-06	0	1.058e-06	0	0	.	.	0	0	0	0	0	0	1.058e-06	0	0	2.12e-05	0.0006	2.754e-05	1.451e-05	7.064e-05	5.64e-06	2.56e-06	5.17e-06	1.93e-06	0	0	7.064e-05	0	0	0	0	3.115e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	5406.56	124	chr11	1018229	.	C	CTGTGCTGATT	5406.56	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.4;DP=1072;ExcessHet=14.2834;FS=2.874;MLEAC=1;MLEAF=0.071;MQ=57.12;MQRankSum=-11.39;QD=5.52;ReadPosRankSum=-0.028;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:184,0:231:99:0|1:1018229_C_G:1420,1974,9700:1018229	6	0	1	0
chr11	1018232	1018232	-	CTGTGGGCTTGGCTGATCCTACTGGTGGTTGCCGTCATTAGTGGGGCTGT	exonic	MUC6	.	stopgain	MUC6:NM_005961:exon31:c.4568_4569insACAGCCCCACTAATGACGGCAACCACCAGTAGGATCAGCCAAGCCCACAG:p.S1524Qfs*4	.	417	223	876	0	6	882	0.662632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.54e-06	0.0001	3.094e-06	0	2.07e-06	2.6e-07	1e-07	3.4e-07	1.3e-07	0	0	0	0	0	0	2.07e-06	0	0	7.609e-05	0.0006	8.099e-05	7.094e-05	0.0002	4.175e-05	3.276e-05	6.047e-05	4.387e-05	2.569e-05	0	6.903e-05	0	0.0002	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	9234.67	123	chr11	1018232	.	G	GCTGTGGGCTTGGCTGATCCTACTGGTGGTTGCCGTCATTAGTGGGGCTGT	9234.67	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.475;DP=1075;ExcessHet=14.2834;FS=2.842;MLEAC=1;MLEAF=0.071;MQ=57.01;MQRankSum=-11.65;QD=8.79;ReadPosRankSum=-0.12;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:184,0:230:99:0|1:1018229_C_G:1378,1932,9658:1018229	6	0	1	0
chr11	1018239	1018239	-	GACC	exonic	MUC6	.	frameshift insertion	MUC6:NM_005961:exon31:c.4561_4562insGGTC:p.T1521Rfs*17	.	404	1114	4	0	0	4	0.00179211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1257166284	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.582e-06	0.0004	1.287e-05	0	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	433.45	127	chr11	1018239	.	G	GGACC	433.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.22;DP=1058;ExcessHet=0;FS=17.068;MLEAC=1;MLEAF=0.071;MQ=56.55;MQRankSum=-6.736;QD=2.61;ReadPosRankSum=-0.134;SOR=1.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:224,0:224:99:.:.:0,120,1800:.	6	0	1	0
chr11	1018241	1018241	-	GTGGCCTTAACTG	exonic	MUC6	.	stopgain	MUC6:NM_005961:exon31:c.4559_4560insCAGTTAAGGCCAC:p.K1520Nfs*3	.	406	1112	4	0	0	4	0.00179533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1463976691	0	6.704e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.57e-06	0.0003	0	1.344e-05	2.407e-05	0	0	.	.	2.407e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	418.42	127	chr11	1018241	.	T	TGTGGCCTTAACTG	418.42	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.856;DP=1063;ExcessHet=0;FS=17.113;MLEAC=1;MLEAF=0.071;MQ=56.5;MQRankSum=-6.689;QD=2.45;ReadPosRankSum=-1.644;SOR=1.76	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:224,0:224:99:.:.:0,120,1800:.	6	0	1	0
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	2064.7	188	chr11	1018290	.	G	A	2064.7	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.39;DP=1257;ExcessHet=4.7409;FS=16.239;MLEAC=2;MLEAF=0.143;MQ=55.67;MQRankSum=-9.645;QD=1.9;ReadPosRankSum=0.999;SOR=1.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:228,28:256:99:0|1:1018256_T_G:489,0,9489:1018256	5	0	2	0
chr11	1018597	1018597	T	-	exonic	MUC6	.	frameshift deletion	MUC6:NM_005961:exon31:c.4204delA:p.T1402Pfs*54	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1865.61	36	chr11	1018596	.	GT	G	1865.61	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.1;DP=283;ExcessHet=0.3476;FS=3.224;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=-0.576;SOR=0.694	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	2	0
chr11	1095030	1095030	-	T	exonic	MUC2	.	unknown	UNKNOWN	.	981	540	1	0	0	1	0.000925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0009	0.0004	0.0004	0.0007	0.0004	0.0003	0.0005	0.0004	0.0004	0.0003	0.0003	0.0007	0.0027	0.0003	0.0002	0.0005	0.0006	0.0060	0.0082	0.0059	0.0062	0.0072	0.0057	0.0056	0.0067	0.0064	0.0039	0	0.0059	0.0032	0.0039	0.0102	0.0035	0.0072	0.0067	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1006.8	36	chr11	1095030	.	C	CT	1006.8	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.39;DP=157;ExcessHet=0;FS=43.154;MLEAC=1;MLEAF=0.071;MQ=57.11;MQRankSum=0.663;QD=27.97;ReadPosRankSum=-1.323;SOR=3.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:20,1:21:18:0|1:1094981_C_T:0,18,855:1094981	6	0	1	0
chr11	1095935	1095935	A	T	exonic	MUC2	.	unknown	UNKNOWN	.	564	957	1	0	0	1	0.000522193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1306026835	0.0001	0.0005	0.0001	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	0.0003	0.0004	0.0001	0.0004	0.0002	0	0.0001	0.0002	5.871e-05	0.0003	0.0006	0.0002	0.0004	0.0006	0.0002	0.0002	0.0002	0.0002	0.0005	0	0.0004	0	0.0005	0	0	0.0002	0.0011	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2441.44	83	chr11	1095935	.	A	T	2441.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=5.98;DP=875;ExcessHet=0;FS=42.65;MLEAC=1;MLEAF=0.071;MQ=52.61;MQRankSum=-3.36;QD=8.57;ReadPosRankSum=-3.063;SOR=2.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:252,0:252:99:.:.:0,120,1800:.	6	0	1	0
chr11	1095938	1096006	ACACCCATCACCACCACCACCATGGTGACCCCAACCCCAACACCCACTGGAACACAGACCCAAACCCCA	-	exonic	MUC2	.	unknown	UNKNOWN	.	571	950	1	0	0	1	0.000526039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.219e-05	6.392e-05	1.509e-05	9.232e-06	0.0001	7.22e-06	5.84e-06	3.949e-05	2.351e-05	0	5.846e-05	0	0.0001	0	0	6.855e-06	3.669e-05	1.293e-05	2.826e-05	0.0001	0	5.98e-05	3.728e-05	7.51e-06	4.08e-06	6.18e-06	2.31e-06	0	0	0	0	0	0.0002	0	3.728e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2319.4	83	chr11	1095937	.	GACACCCATCACCACCACCACCATGGTGACCCCAACCCCAACACCCACTGGAACACAGACCCAAACCCCA	G	2319.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.92;DP=1040;ExcessHet=0;FS=16.661;MLEAC=1;MLEAF=0.071;MQ=54.92;MQRankSum=-6.154;QD=5.34;ReadPosRankSum=-4.119;SOR=1.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:252,0:252:99:.:.:0,120,1800:.	6	0	1	0
chr11	1095948	1095948	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	39919.1	131	chr11	1095948	.	C	*	39919.1	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.05;DP=1199;ExcessHet=0;FS=2.133;MLEAC=1;MLEAF=0.083;MQ=54.53;MQRankSum=2.05;QD=34.83;ReadPosRankSum=1.74;SOR=0.414	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:2,0:225:99:1|1:1095948_C_G:9265,9271,9319:1095948	5	0	1	1
chr11	1095999	1095999	A	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	46453.7	157	chr11	1095999	.	A	*	46453.7	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.97;DP=1321;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=58.31;MQRankSum=-0.434;QD=29.49;ReadPosRankSum=1.38;SOR=0.355	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:1,0:233:99:1|1:1095948_C_G:9407,9409,9416:1095948	5	0	1	1
chr11	1096006	1096006	-	ACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACATCG	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0043	0.0015	0.0015	0.0060	0.0014	0.0014	0.0052	0.0048	0.0028	0.0010	0.0023	0.0060	0.0020	0.0021	0.0012	0.0021	0.0008	0.0003	0.0006	0.0002	0.0005	0.0016	0.0002	0.0001	0.0002	6.527e-05	0.0003	0	0.0009	0	0.0016	0	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1683.77	143	chr11	1096006	.	A	AACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACATCG	1683.77	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-1.823;DP=1454;ExcessHet=0;FS=20.361;MLEAC=2;MLEAF=0.5;MQ=57.44;MQRankSum=-7.608;QD=12.03;ReadPosRankSum=-9.304;SOR=2.129	GT:AD:DP:GQ:PL	0/0:223,0:223:99:0,120,1800	1	0	1	5
chr11	1096086	1096086	G	0	exonic	MUC2	.	.	.	.	566	673	252	7	24	290	0.165012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1817.09	320	chr11	1096086	.	G	*	1817.09	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.213;DP=2219;ExcessHet=0;FS=0.559;MLEAC=1;MLEAF=0.083;MQ=56.43;MQRankSum=0.633;QD=3.69;ReadPosRankSum=1.52;SOR=0.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:335,0:443:99:.:.:1816,2814,13615:.	5	0	1	1
chr11	1096123	1096123	C	0	exonic	MUC2	.	.	.	.	478	865	169	4	6	183	0.0928159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	260.38	352	chr11	1096123	.	C	*	260.38	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.689;DP=2548;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=54.48;MQRankSum=0.448;QD=4.65;ReadPosRankSum=0.202;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:676,0:676:99:.:.:0,120,1800:.	5	0	1	1
chr11	1096140	1096140	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	470.58	352	chr11	1096140	.	C	*	470.58	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.129;DP=2556;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=55.25;MQRankSum=0.54;QD=7.02;ReadPosRankSum=-1.235;SOR=0.854	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:676,0:676:99:.:.:0,120,1800:.	6	0	1	0
chr11	1096140	1096140	-	AT	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	6.707e-05	3.157e-05	0.0002	0	0.0004	0.0002	0.0002	0.0002	1.361e-05	0.0002	0.0006	0.0001	0.0002	0.0004	0.0001	9.498e-05	0.0002	0.0001	4.865e-05	0	0.0004	0	0	0.0002	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	470.58	352	chr11	1096140	.	C	CAT	470.58	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.129;DP=2556;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=55.25;MQRankSum=0.54;QD=7.02;ReadPosRankSum=-1.235;SOR=0.854	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:676,0:676:99:.:.:0,120,1800:.	6	0	1	0
chr11	1096141	1096168	CCTGACACCCATCACCACCACCACTACG	0	exonic	MUC2	.	.	.	.	463	999	52	0	8	60	0.0253659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	6907.58	430	chr11	1096141	.	CCTGACACCCATCACCACCACCACTACG	*	6907.58	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.08;DP=2636;ExcessHet=0;FS=0.518;MLEAC=1;MLEAF=0.071;MQ=57.13;MQRankSum=0.553;QD=13.87;ReadPosRankSum=1.51;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:676,0:676:99:.:.:0,120,1800:.	6	0	1	0
chr11	1096142	1096143	CT	-	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	3.152e-05	0.0001	0	0.0005	0.0002	0.0002	0.0003	2.72e-05	0.0002	0.0007	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	7.632e-05	0	0.0004	0	0.0002	0.0002	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	6907.58	430	chr11	1096141	.	CCT	C	6907.58	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.08;DP=2636;ExcessHet=0;FS=0.518;MLEAC=1;MLEAF=0.071;MQ=57.13;MQRankSum=0.553;QD=13.87;ReadPosRankSum=1.51;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:676,0:676:99:.:.:0,120,1800:.	6	0	1	0
chr11	1096143	1096212	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	508	767	11	0	236	247	0.00711974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	6291.69	430	chr11	1096143	.	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	6291.69	.	AC=3;AF=0.214;AN=14;BaseQRankSum=2.25;DP=3158;ExcessHet=1.4958;FS=0;MLEAC=3;MLEAF=0.214;MQ=57.38;MQRankSum=-0.691;QD=3.77;ReadPosRankSum=-0.569;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:490,0:557:99:.:.:926,2405,22043:.	5	1	1	0
chr11	1096155	1096155	C	0	exonic	MUC2	.	.	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	976.35	430	chr11	1096155	.	C	*	976.35	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.973;DP=2845;ExcessHet=4.7409;FS=0;MLEAC=4;MLEAF=0.333;MQ=55.48;MQRankSum=2.2;QD=0.6;ReadPosRankSum=-3.121;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:490,67:557:99:.:.:926,0,19234:.	2	0	4	1
chr11	1096155	1096155	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362776823	0.0019	0.0052	0.0019	0.0019	0.0094	0.0018	0.0018	0.0083	0.0079	0.0094	0.0017	0.0027	6.019e-05	0.0067	0.0025	0.0016	0.0033	0.0002	0.0022	0.0038	0.0019	0.0025	0.0061	0.0020	0.0019	0.0054	0.0051	0.0061	0	0.0010	0.0004	0	0.0006	0	0.0006	0.0032	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	976.35	430	chr11	1096155	.	C	G	976.35	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.973;DP=2845;ExcessHet=4.7409;FS=0;MLEAC=1;MLEAF=0.083;MQ=55.48;MQRankSum=2.2;QD=0.6;ReadPosRankSum=-3.121;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:490,0:557:99:.:.:926,2405,22043:.	5	0	1	1
chr11	1096168	1096168	G	0	exonic	MUC2	.	.	.	.	1	110	14	0	101	115	0.0598291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	641.04	430	chr11	1096168	.	G	*	641.04	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.083;DP=2487;ExcessHet=2.5225;FS=0;MLEAC=3;MLEAF=0.3;MQ=57.73;MQRankSum=-1.049;QD=0.42;ReadPosRankSum=2.41;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:210,67:403:99:.:.:2000,645,10942:.	2	0	3	2
chr11	1096170	1096212	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	1	116	21	0	88	109	0.083004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	6240.31	418	chr11	1096170	.	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	6240.31	.	AC=2;AF=0.25;AN=8;BaseQRankSum=1.5;DP=2446;ExcessHet=1.1394;FS=1.184;MLEAC=3;MLEAF=0.375;MQ=57.8;MQRankSum=-3.755;QD=5.58;ReadPosRankSum=0.613;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:498,0:498:0:.:.:0,0,9869:.	2	0	2	3
chr11	1096180	1096180	C	0	exonic	MUC2	.	.	.	.	532	749	62	4	175	245	0.0446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	4099.79	418	chr11	1096180	.	C	*	4099.79	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.011;DP=2276;ExcessHet=0.4813;FS=1.764;MLEAC=3;MLEAF=0.3;MQ=57.14;MQRankSum=0.705;QD=3.46;ReadPosRankSum=0.82;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:498,0:498:0:.:.:0,0,9869:.	2	0	3	2
chr11	1096181	1096181	C	0	exonic	MUC2	.	.	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1225.3	418	chr11	1096181	.	C	*	1225.3	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.921;DP=2165;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.375;MQ=55.47;MQRankSum=1.49;QD=1.52;ReadPosRankSum=0.406;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:498,0:498:0:.:.:0,0,9869:.	2	0	2	3
chr11	1096181	1096181	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0051	0.0024	0.0025	0.0031	0.0023	0.0023	0.0022	0.0022	0.0004	0.0017	0.0035	0	0.0156	0.0031	0.0023	0.0036	0.0004	0.0006	0.0013	0.0007	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	5.841e-05	0	0.0007	0.0008	0	0.0011	0	0.0010	0.0012	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	1225.3	418	chr11	1096181	.	C	G	1225.3	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.921;DP=2165;ExcessHet=1.1394;FS=0;MLEAC=1;MLEAF=0.125;MQ=55.47;MQRankSum=1.49;QD=1.52;ReadPosRankSum=0.406;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:498,0:498:0:.:.:0,0,9869:.	3	0	1	3
chr11	1096211	1096211	A	0	exonic	MUC2	.	.	.	.	606	732	15	0	169	184	0.010142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	1141.48	348	chr11	1096211	.	A	*	1141.48	.	AC=3;AF=0.375;AN=8;BaseQRankSum=2.2;DP=2162;ExcessHet=2.5225;FS=0;MLEAC=4;MLEAF=0.5;MQ=57.51;MQRankSum=-4.444;QD=0.91;ReadPosRankSum=5.08;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:440,67:507:99:0|1:1096211_A_*:3941,0,17749:1096211	1	0	3	3
chr11	1096212	1096212	C	0	exonic	MUC2	.	.	.	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1143.97	347	chr11	1096212	.	C	*	1143.97	.	AC=2;AF=0.333;AN=6;BaseQRankSum=2.57;DP=2166;ExcessHet=1.383;FS=1.392;MLEAC=3;MLEAF=0.5;MQ=57.51;MQRankSum=0.19;QD=1.26;ReadPosRankSum=6.99;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:440,67:507:99:0|1:1096211_A_*:3950,0,17742:1096211	1	0	2	4
chr11	1096212	1096212	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400696229	0.0042	0.0094	0.0040	0.0044	0.0105	0.0040	0.0039	0.0063	0.0057	0.0078	0.0031	0.0092	0.0039	0.0418	0.0105	0.0037	0.0060	0.0014	0.0038	0.0063	0.0033	0.0042	0.0040	0.0032	0.0030	0.0032	0.0029	0.0039	0	0.0038	0.0018	0.0024	0.0035	0	0.0040	0.0049	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1143.97	347	chr11	1096212	.	C	T	1143.97	.	AC=1;AF=0.167;AN=6;BaseQRankSum=2.57;DP=2166;ExcessHet=1.383;FS=1.392;MLEAC=1;MLEAF=0.167;MQ=57.51;MQRankSum=0.19;QD=1.26;ReadPosRankSum=6.99;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:440,0:507:99:0|1:1096211_A_*:3950,2336,19827:1096211	2	0	1	4
chr11	1096234	1096234	T	C	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1429311026	7.847e-05	0.0004	6.154e-05	9.592e-05	0.0005	6.585e-05	6.15e-05	0.0004	0.0003	6.925e-05	9.2e-05	0.0003	3.492e-05	5.51e-05	0.0002	4.366e-05	9.403e-05	0.0005	0.0035	0.0081	0.0031	0.0039	0.0083	0.0032	0.0031	0.0056	0.0047	0.0037	0.0078	0.0034	0.0021	0.0083	0.0091	0.0455	0.0021	0.0087	0.0075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1082.24	301	chr11	1096234	.	T	C	1082.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.48;DP=1956;ExcessHet=0.3476;FS=9.548;MLEAC=2;MLEAF=0.143;MQ=57.39;MQRankSum=-5.714;QD=2.13;ReadPosRankSum=-4.78;SOR=1.513	GT:AD:DP:GQ:PL	0/0:576,0:576:99:0,120,1800	5	0	2	0
chr11	1096464	1096464	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	559	960	3	0	0	3	0.00156006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1428478288	0.0001	0.0024	0.0001	0.0001	0.0009	0.0001	0.0001	0.0004	0.0002	0	5.795e-05	0.0002	2.921e-05	2.862e-05	0.0009	0.0001	0.0002	7.793e-05	0.0006	0.0017	0.0006	0.0005	0.0008	0.0005	0.0004	0.0006	0.0006	0.0001	0	0.0006	0.0026	0	0	0	0.0008	0.0010	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	486.44	161	chr11	1096464	.	C	A	486.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.125;DP=1233;ExcessHet=0;FS=6.283;MLEAC=1;MLEAF=0.071;MQ=53.79;MQRankSum=-1.797;QD=3.16;ReadPosRankSum=-1.638;SOR=1.319	GT:AD:DP:GQ:PL	0/0:372,0:372:99:0,120,1800	6	0	1	0
chr11	1096749	1096749	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	858	658	6	0	0	6	0.00453858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026	0.0083	0.0023	0.0030	0.0089	0.0025	0.0025	0.0082	0.0079	0.0036	0.0068	0.0036	0.0056	0.0032	0.0043	0.0016	0.0024	0.0089	0	0.0009	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	147.05	30	chr11	1096749	.	C	G	147.05	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.53;DP=196;ExcessHet=0.3476;FS=27.262;MLEAC=2;MLEAF=0.143;MQ=50.45;MQRankSum=-2.264;QD=2.16;ReadPosRankSum=-2.373;SOR=4.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:19,0:19:39:.:.:0,39,585:.	5	0	2	0
chr11	1097057	1097057	A	G	exonic	MUC2	.	unknown	UNKNOWN	.	692	829	1	0	0	1	0.000602773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1447147746	0.0020	0.0038	0.0019	0.0021	0.0023	0.0019	0.0019	0.0021	0.0021	0.0019	0.0010	0.0010	0.0011	0.0040	0.0004	0.0023	0.0017	0.0012	0.0007	0.0017	0.0007	0.0007	0.0010	0.0006	0.0005	0.0008	0.0007	0.0005	0	0.0006	0	0.0004	0.0006	0	0.0010	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	204.44	80	chr11	1097057	.	A	G	204.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.06;DP=391;ExcessHet=0;FS=3.808;MLEAC=1;MLEAF=0.071;MQ=35.08;MQRankSum=1.22;QD=2.13;ReadPosRankSum=0.499;SOR=1.313	GT:AD:DP:GQ:PL	0/1:79,17:96:99:215,0,2415	6	0	1	0
chr11	1097308	1097308	-	ACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT	exonic	MUC2	.	unknown	UNKNOWN	.	646	865	11	0	0	11	0.00631821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.0020	0.0020	0.0024	0.0112	0.0021	0.0021	0.0102	0.0098	0.0017	0.0027	0.0027	0.0112	0.0033	0.0023	0.0016	0.0026	0.0033	5.6e-05	8.507e-05	6.629e-05	4.543e-05	7.101e-05	2.136e-05	1.388e-05	1.883e-05	1.022e-05	4.239e-05	0	0	0	0	0.0002	0	7.101e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	941.68	196	chr11	1097308	.	C	CACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT	941.68	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.728;DP=1177;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=38.61;MQRankSum=1.84;QD=2;ReadPosRankSum=-3.48;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,5:109:99:.:.:542,0,3321:.	4	0	3	0
chr11	1097404	1097404	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	725	773	23	0	1	24	0.014659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0220	0.0089	0	0.0172	0.0135	0.0152	0.0312	0.0510	0.0002458	38	154602	rs1263995397	0.0102	0.0083	0.0109	0.0095	0.0188	0.0098	0.0096	0.0123	0.0121	0.0056	0.0066	0.0112	0.0034	0.0078	0.0188	0.0129	0.0119	0.0030	0.0079	0.0098	0.0081	0.0076	0.0102	0.0071	0.0068	0.0089	0.0084	0.0045	0.0112	0.0069	0.0055	0.0088	0.0089	0	0.0102	0.0089	0.0087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.373884	0.412371	0.380342	0.305970	0.428571	0.250000	0.412621	0.349057	0.25	50.89	86	chr11	1097404	.	C	T	50.89	.	AC=1;AF=0.25;AN=4;BaseQRankSum=1.95;DP=571;ExcessHet=0;FS=21.805;MLEAC=2;MLEAF=0.5;MQ=34.16;MQRankSum=-2.002;QD=1;ReadPosRankSum=-1.288;SOR=3.59	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:142,0:142:0:.:.:0,0,2403:.	1	0	1	5
chr11	1097520	1097520	T	G	exonic	MUC2	.	unknown	UNKNOWN	.	651	838	24	1	8	34	0.0152761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394082476	0.0051	0.0082	0.0050	0.0051	0.0055	0.0050	0.0049	0.0054	0.0053	0.0004	0.0026	0.0043	0	0.0160	0.0044	0.0055	0.0050	0.0016	0.0028	0.0060	0.0027	0.0030	0.0046	0.0025	0.0024	0.0040	0.0037	0.0005	0	0.0009	0.0038	0	0.0104	0	0.0046	0.0071	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	231.23	113	chr11	1097520	.	T	G	231.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.794;DP=964;ExcessHet=0;FS=2.787;MLEAC=1;MLEAF=0.083;MQ=39.08;MQRankSum=-1.222;QD=4.45;ReadPosRankSum=-2.093;SOR=1.332	GT:AD:DP:GQ:PL	0/0:225,0:225:99:0,120,1800	5	0	1	1
chr11	1097760	1097760	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	656	862	4	0	0	4	0.00231481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455827500	0.0014	0.0035	0.0014	0.0015	0.0017	0.0014	0.0013	0.0014	0.0014	0.0017	0.0007	0.0007	0.0012	0.0032	0.0006	0.0015	0.0013	0.0008	0.0003	0.0005	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0002	0.0003	0	0.0002	0	0	0.0003	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	54.23	126	chr11	1097760	.	C	G	54.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.078;DP=866;ExcessHet=0;FS=2.254;MLEAC=1;MLEAF=0.083;MQ=42.23;MQRankSum=-3.129;QD=0.23;ReadPosRankSum=-0.714;SOR=0.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:217,17:234:64:0|1:1097760_C_G:64,0,8916:1097760	5	0	1	1
chr11	1097761	1097761	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	655	863	4	0	0	4	0.00231214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1361308733	0.0015	0.0035	0.0014	0.0015	0.0016	0.0014	0.0013	0.0014	0.0014	0.0016	0.0007	0.0008	0.0011	0.0033	0.0006	0.0015	0.0014	0.0008	0.0003	0.0005	0.0004	0.0003	0.0005	0.0002	0.0002	0.0003	0.0002	0.0004	0	0.0002	0	0	0	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	57.23	126	chr11	1097761	.	C	T	57.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.196;DP=865;ExcessHet=0;FS=2.243;MLEAC=1;MLEAF=0.083;MQ=42.26;MQRankSum=-3.134;QD=0.25;ReadPosRankSum=-0.767;SOR=0.96	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:216,17:233:67:0|1:1097760_C_G:67,0,8874:1097760	5	0	1	1
chr11	1097762	1097762	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	661	857	4	0	0	4	0.00232829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1177200914	0.0015	0.0036	0.0015	0.0016	0.0017	0.0014	0.0014	0.0015	0.0014	0.0017	0.0007	0.0007	0.0012	0.0034	0.0006	0.0016	0.0014	0.0010	0.0004	0.0006	0.0004	0.0004	0.0010	0.0003	0.0002	0.0003	0.0003	0.0003	0	0.0002	0	0	0	0	0.0006	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	78.23	126	chr11	1097762	.	C	A	78.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.24;DP=856;ExcessHet=0;FS=1.061;MLEAC=1;MLEAF=0.083;MQ=41.99;MQRankSum=-3.126;QD=0.35;ReadPosRankSum=-0.435;SOR=0.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,17:226:88:0|1:1097760_C_G:88,0,8591:1097760	5	0	1	1
chr11	1097768	1097768	A	C	exonic	MUC2	.	unknown	UNKNOWN	.	713	805	4	0	0	4	0.00247831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1423716618	0.0028	0.0036	0.0028	0.0027	0.0053	0.0026	0.0026	0.0042	0.0038	0.0053	0.0015	0.0014	0.0019	0.0052	0.0019	0.0028	0.0026	0.0023	0.0016	0.0023	0.0015	0.0018	0.0026	0.0011	0.0010	0.0011	0.0008	0.0022	0	0.0026	0	0	0.0043	0	0.0012	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	77.11	126	chr11	1097768	.	A	C	77.11	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.85;DP=823;ExcessHet=0;FS=1.169;MLEAC=1;MLEAF=0.1;MQ=42.28;MQRankSum=-2.321;QD=0.41;ReadPosRankSum=-0.486;SOR=0.843	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,15:189:86:0|1:1097760_C_G:86,0,7228:1097760	4	0	1	2
chr11	1097805	1097805	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	683	827	12	0	0	12	0.00720288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.083e-05	0.0006	4.152e-05	2.074e-05	9.699e-05	2.144e-05	1.822e-05	2.385e-05	1.288e-05	9.699e-05	9e-05	9.62e-05	6.337e-05	0	0	2.691e-05	0	1.488e-05	4.208e-05	0.0002	4.311e-05	4.11e-05	0.0002	6.98e-06	2.61e-06	3.316e-05	1.363e-05	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	74.66	81	chr11	1097805	.	C	A	74.66	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.958;DP=499;ExcessHet=0;FS=5.138;MLEAC=1;MLEAF=0.083;MQ=35.43;MQRankSum=-0.663;QD=1.52;ReadPosRankSum=-0.104;SOR=2.066	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:124,0:124:76:.:.:0,76,4356:.	5	0	1	1
chr11	1098021	1098021	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	595	926	1	0	0	1	0.000539665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.137e-05	0.0001	3.161e-05	3.113e-05	3.499e-05	2.258e-05	1.992e-05	2.425e-05	2.088e-05	0	0	4.321e-05	0	0	0	3.499e-05	8.278e-05	1.359e-05	2.708e-05	0.0001	1.323e-05	4.161e-05	3.022e-05	8.33e-06	5.27e-06	5.01e-06	1.88e-06	2.487e-05	0	0	0.0003	0	0	0	3.022e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	321.44	282	chr11	1098021	.	C	A	321.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.823;DP=1497;ExcessHet=0;FS=10.39;MLEAC=1;MLEAF=0.071;MQ=42.24;MQRankSum=2.09;QD=1.42;ReadPosRankSum=3.12;SOR=0.903	GT:AD:DP:GQ:PL	0/0:367,0:367:99:0,120,1800	6	0	1	0
chr11	1098120	1098120	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	615	888	19	0	0	19	0.010585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1221177584	0.0007	0.0036	0.0007	0.0006	0.0040	0.0006	0.0006	0.0034	0.0031	0.0014	0.0006	0.0009	0.0040	0.0003	0.0007	0.0005	0.0009	0.0004	0.0017	0.0041	0.0020	0.0014	0.0042	0.0014	0.0013	0.0020	0.0017	0.0027	0	0.0010	0.0013	0.0042	0.0006	0	0.0015	0.0027	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	707.44	120	chr11	1098120	.	C	A	707.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.667;DP=574;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=38.68;MQRankSum=-1.618;QD=3.65;ReadPosRankSum=-0.569;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:148,0:148:99:.:.:0,120,1800:.	5	0	2	0
chr11	1098124	1098124	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	631	864	27	0	0	27	0.0153846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1320109801	0.0016	0.0060	0.0017	0.0015	0.0031	0.0015	0.0015	0.0025	0.0023	0.0012	0.0010	0.0021	0.0031	0.0020	0.0023	0.0016	0.0019	0.0007	0.0023	0.0048	0.0024	0.0022	0.0042	0.0019	0.0018	0.0018	0.0017	0.0026	0	0.0013	0.0025	0.0036	0.0014	0	0.0024	0.0037	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	732.09	105	chr11	1098124	.	C	T	732.09	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.819;DP=541;ExcessHet=0.3476;FS=2.164;MLEAC=2;MLEAF=0.2;MQ=36.56;MQRankSum=-1.383;QD=4.26;ReadPosRankSum=-1.399;SOR=0.382	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:142,0:142:0:.:.:0,0,3612:.	3	0	2	2
chr11	1098538	1098538	T	C	exonic	MUC2	.	unknown	UNKNOWN	.	674	844	4	0	0	4	0.00236407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169334096	0.0032	0.0055	0.0033	0.0031	0.0031	0.0031	0.0030	0.0030	0.0029	0.0010	0.0019	0.0052	0.0011	0.0223	0.0025	0.0031	0.0044	0.0012	0.0150	0.0054	0.0122	0.0179	0.0232	0.0120	0.0110	0.0178	0.0159	0.0027	0	0.0049	0.0104	0.0053	0.0249	0.1000	0.0232	0.0323	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	136.11	46	chr11	1098538	.	T	C	136.11	.	AC=1;AF=0.1;AN=10;BaseQRankSum=6.6;DP=762;ExcessHet=0;FS=25.461;MLEAC=1;MLEAF=0.1;MQ=43.6;MQRankSum=-3.562;QD=1.39;ReadPosRankSum=-1.984;SOR=4.774	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:118,0:118:99:.:.:0,120,1800:.	4	0	1	2
chr11	1098628	1098628	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	567	933	22	0	0	22	0.0116525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1356651919	0.0006	0.0088	0.0006	0.0006	0.0006	0.0006	0.0005	0.0005	0.0005	0.0003	0.0003	0.0007	0.0002	0.0028	0	0.0006	0.0007	0.0002	0.0023	0.0060	0.0021	0.0026	0.0035	0.0021	0.0020	0.0030	0.0028	0.0006	0.0051	0.0018	0.0018	0.0003	0.0067	0.0088	0.0035	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	640.44	152	chr11	1098628	.	C	G	640.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.11;DP=1065;ExcessHet=0;FS=13.374;MLEAC=1;MLEAF=0.071;MQ=49.67;MQRankSum=-2.38;QD=3.09;ReadPosRankSum=1.77;SOR=1.847	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:198,0:198:99:.:.:0,120,1800:.	6	0	1	0
chr11	1099366	1099366	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	4395.55	250	chr11	1099366	.	T	*	4395.55	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.377;DP=1918;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.167;MQ=52.51;MQRankSum=-0.714;QD=14.18;ReadPosRankSum=1.71;SOR=0.711	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:205:99:.:.:3767,4435,11975:.	2	0	1	4
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	25726.7	156	chr11	1099370	.	G	*	25726.7	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.01;DP=2119;ExcessHet=0;FS=3.076;MLEAC=2;MLEAF=0.143;MQ=53.75;MQRankSum=-0.369;QD=19.64;ReadPosRankSum=0.446;SOR=0.112	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,241:339:99:.:.:9573,3436,3327:.	5	0	2	0
chr11	1108182	1108182	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	399	1110	13	0	0	13	0.00582176	.	.	.	2806474	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.043	0.0124149248463	0.0024	0.00179712	0.0020	0.0006	0.0023	0.0002	0.0003	0.0028	0.0034	0.0005	0.001934	299	154602	rs72655352	0.0022	0.0022	0.0022	0.0022	0.0080	0.0022	0.0021	0.0061	0.0055	0.0005	0.0021	0.0054	0	0.0002	0.0080	0.0024	0.0030	0.0008	0.0018	0.0018	0.0020	0.0017	0.0031	0.0017	0.0016	0.0024	0.0021	0.0005	0	0.0031	0.0055	0	9.416e-05	0.0034	0.0026	0.0066	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.005051	0.013587	0.005882	0.000000	0.000000	0.006098	0.003788	0.1667	2860.9	34	chr11	1108182	.	C	T	2860.9	.	AC=2;AF=0.167;AN=12;DP=268;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=31.79;SOR=0.935	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	5	1	0	1
chr11	1182416	1182416	C	A	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.C4271A:p.P1424H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.412	0.45237	.	.	.	.	.	.	.	0.35969213	0.52631	T	.	.	.	.	.	.	.	.	.	0.4888661874915876	0.48806	.	.	.	.	.	0.284409	0.65718	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.935	0.89093	D	.	.	0.851	0.79840	P	.	.	3.496110	0.48888	22.7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.829000	0.55461	5.423000	0.48571	0.535000	0.24933	0.990000	0.36992	1.000000	0.68203	0.003000	0.05239	.	.	.	.	.	WxxW domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1352.46	50	chr11	1182416	.	C	A	1352.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.78;DP=450;ExcessHet=0;FS=1.533;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.196;SOR=0.626	GT:AD:DP:GQ:PL	0/0:102,0:102:99:0,120,1800	6	0	1	0
chr11	1186891	1186891	A	T	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.A8746T:p.T2916S	.	456	1062	3	1	0	5	0.00234852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1307373380	0.0004	0.0004	0.0003	0.0004	0.0024	0.0003	0.0003	0.0013	0.0010	0	0.0003	0	0	0	0.0024	0.0005	0.0005	0.0004	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	4.834e-05	0	0.0001	0	0	0	0	0.0003	0	0.0002	.	.	.	0.866	0.03352	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.10056	.	.	.	.	.	.	.	0.06474507	0.08633	T	.	.	.	.	.	.	.	.	.	0.07802531793669251	0.07738	.	.	.	.	.	0.045	0.26927	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.86	0.66791	D	.	.	0.145	0.31882	B	.	.	-0.463944	0.01986	0.174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.009000	0.12703	-20.000000	0.00162	-2.068000	0.00410	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	6811.44	617	chr11	1186891	.	A	T	6811.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.36;DP=3661;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.77;MQRankSum=-1.594;QD=11.04;ReadPosRankSum=-0.236;SOR=0.679	GT:AD:DP:GQ:PL	0/0:1023,0:1023:99:0,120,1800	6	0	1	0
chr11	1190887	1190887	A	T	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.A12742T:p.S4248C	.	433	1077	9	0	3	12	0.00416089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1303560220	0.0025	0.0025	0.0027	0.0025	0.0087	0.0024	0.0024	0.0065	0.0057	0.0064	0.0030	0.0049	0	0.0025	0.0087	0.0026	0.0043	0.0005	0.0037	0.0037	0.0036	0.0039	0.0063	0.0035	0.0034	0.0056	0.0054	0.0063	0	0.0030	0.0043	0	0.0035	0.0034	0.0029	0.0057	0	.	.	.	0.038	0.51421	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	0.11054	.	.	.	.	.	.	.	0.025472552	0.00740	T	.	.	.	.	.	.	.	.	.	0.10923388347606139	0.10852	.	.	.	.	.	0.046619	0.27479	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.433	0.76461	D	.	.	0.352	0.56683	A	.	.	1.543506	0.19791	14.44	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.222000	0.42568	-0.451000	0.09099	0.350000	0.19923	0.026000	0.20160	0.004000	0.18990	0.002000	0.04165	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	5269.44	494	chr11	1190887	.	A	T	5269.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.612;DP=2577;ExcessHet=0;FS=1.741;MLEAC=1;MLEAF=0.071;MQ=59.91;MQRankSum=1.7;QD=12;ReadPosRankSum=0.719;SOR=0.593	GT:AD:DP:GQ:PL	0/0:855,0:855:99:0,120,1800	6	0	1	0
chr11	1192300	1192300	G	A	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.G14155A:p.E4719K	.	416	1096	10	0	0	10	0.00454133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00339457	0.0022	0.0059	0.0017	0.0001	0.0021	0.0024	0.0035	0.0007	0.0003493	54	154602	rs1256603257	0.0026	0.0025	0.0027	0.0025	0.0087	0.0025	0.0024	0.0064	0.0057	0.0064	0.0028	0.0055	0	0.0024	0.0087	0.0026	0.0043	0.0005	0.0037	0.0038	0.0036	0.0038	0.0062	0.0035	0.0034	0.0056	0.0054	0.0062	0	0.0030	0.0049	0	0.0034	0.0034	0.0029	0.0057	0	.	.	.	0.461	0.12562	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.29889	.	.	.	.	.	.	.	0.0054558814	0.00120	T	.	.	.	.	.	.	.	0.394079506076	0.39022	0.8685077869553766	0.86815	.	.	.	.	.	0.063583	0.32212	T	-0.289535	0.09682	T	-0.653673	0.08699	T	.	.	.	.	.	.	0.029983448	0.02583	0.08887649	0.20749	0.029983448	0.02582	0.08887649	0.20748	-9.334	0.69821	D	.	.	0.330	0.55243	B	.	.	-0.625630	0.01504	0.095	0.8504754876984395	0.15653	0.11119	0.16420	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.995522395801278	0.34175	0.067872	0.01466	2	0.086529	0.02451	2	0.05767	0.00357	2	0.083433	0.02327	0	0.0643366	0.15391	4.94	-3.43	0.04507	-4.239000	0.00305	-20.000000	0.00162	-2.439000	0.00283	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2527:0.2696:0.3803:0.0974	2.747	0.04944	.	.	WxxW domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1881.44	40	chr11	1192300	.	G	A	1881.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.02;DP=349;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.96;MQRankSum=0.104;QD=13.73;ReadPosRankSum=2.53;SOR=0.713	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	6	0	1	0
chr11	1243062	1243062	C	G	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C6182G:p.A2061G	.	424	926	82	2	88	174	0.0443756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	0.00898562	0.0119	0.0017	0.0069	0.0002	0.0003	0.0111	0.0237	0.0347	0.0008732	135	154602	rs61997210	0.0093	0.0093	0.0083	0.0104	0.0494	0.0092	0.0091	0.0446	0.0428	0.0019	0.0074	0.0427	0.0001	0.0007	0.0494	0.0071	0.0130	0.0357	0.0074	0.0074	0.0071	0.0078	0.0282	0.0071	0.0069	0.0243	0.0229	0.0017	0.0033	0.0098	0.0383	0.0002	0.0007	0.0884	0.0084	0.0142	0.0282	0.063	0.36709	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.34	0.67151	M	2.26	0.17596	T	-0.93	0.24898	N	0.038	0.01203	-0.9838	0.34116	T	0.040	0.17191	T	9	0.003387034	0.00059	T	.	.	.	0.030	0.07022	.	.	.	.	0.11933029641628383	0.11860	.	.	0.172272831202	0.00042	T	0.022813	0.17520	T	-0.712371	0.00031	T	-0.770285	0.02758	T	0.00459172025389433	0.00049	T	0.618038	0.23687	T	0.04650555	0.07794	0.055332977	0.09686	0.04650555	0.07793	0.055332977	0.09686	-6.395	0.49471	T	.	.	0.139	0.30318	B	.	.	-0.149876	0.03357	0.595	0.51709723328190837	0.04612	0.06366	0.12366	N	AEFI	0.107211	0.21368	N	-1.03137825171341	0.07958	0.3714802	-1.19298340184668	0.06026	0.2888513	1.82559760139279E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	1.96	-1.97	0.07091	-1.131000	0.03349	-1.620000	0.05046	-0.400000	0.05303	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1889:0.4363:0.3747:0.0	5.827	0.17816	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	6049.51	72	chr11	1243062	.	C	G	6049.51	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.975;DP=786;ExcessHet=0.4813;FS=1.752;MLEAC=3;MLEAF=0.214;MQ=50.49;MQRankSum=-0.847;QD=10.75;ReadPosRankSum=0.353;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:140,0:246:99:.:.:2404,2824,6601:.	5	1	1	0
chr11	1244136	1244136	C	A	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C7256A:p.A2419D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00228641545926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	2.724e-06	0	2.988e-05	2.3e-07	9e-08	.	.	2.988e-05	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.125	0.59049	M	2.25	0.17761	T	-1.0	0.26422	N	0.125	0.11769	-1.0457	0.15621	T	0.036	0.15378	T	9	0.15801567	0.29724	T	0.002286	0.04369	T	0.028	0.06331	.	.	0.043077524339	0.03247	0.2442552270646657	0.24339	.	.	0.226853474975	0.01743	T	0.021035	0.16455	T	-0.335186	0.05728	T	-0.719248	0.04832	T	0.13881369316285	0.16172	T	0.248275	0.03682	T	0.09794957	0.23097	0.08110145	0.18402	0.09794957	0.23097	0.08110145	0.18402	-9.453	0.70566	D	.	.	0.189	0.40602	B	.	.	1.231912	0.16270	12.43	0.76456723036081176	0.11475	0.00742	0.03097	N	AEFI	0.042959	0.06730	N	-0.623195295988359	0.18249	0.9459184	-0.818090486108447	0.14057	0.7325571	8.50951046026767E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	2.97	0.956	0.18731	-0.272000	0.08591	-2.286000	0.03949	0.521000	0.23867	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5794:0.144:0.2767	5.596	0.16611	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	985.44	34	chr11	1244136	.	C	A	985.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.893;DP=293;ExcessHet=0;FS=0.807;MLEAC=1;MLEAF=0.071;MQ=52.32;MQRankSum=0.524;QD=10.6;ReadPosRankSum=-0.829;SOR=0.814	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1408	6	0	1	0
chr11	1248327	1248327	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C11447T:p.T3816M	.	434	1079	9	0	0	9	0.00415321	.	.	.	2227925	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.066	0.00485645972326	.	0.00139776	0.0016	0.0002	0.0010	0.0015	0.0029	0.0018	0.0012	0.0016	0.0001229	19	154602	rs201948297	0.0028	0.0030	0.0029	0.0027	0.0066	0.0027	0.0027	0.0050	0.0044	0.0005	0.0017	0.0027	0.0007	0.0016	0.0066	0.0031	0.0025	0.0018	0.0016	0.0017	0.0015	0.0017	0.0023	0.0014	0.0014	0.0020	0.0019	0.0004	0	0.0022	0.0017	0.0004	0.0018	0.0034	0.0023	0.0024	0.0011	0.197	0.20607	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.845	0.48678	L	2.09	0.20122	T	-0.5	0.15782	N	0.028	0.00618	-1.0589	0.12032	T	0.054	0.22959	T	9	0.008440405	0.00191	T	0.004856	0.12161	T	0.066	0.19193	.	.	0.043077524339	0.03247	0.27986162754402993	0.27899	.	.	0.191385239363	0.00250	T	0.035321	0.23671	T	-0.6685	0.00056	T	-0.739815	0.03898	T	0.0207374325317446	0.00773	T	0.368563	0.08641	T	0.013436387	0.00059	0.026994731	0.00822	0.013436387	0.00059	0.026994731	0.00822	-8.743	0.66027	D	.	.	0.115	0.23183	B	.	.	-0.150960	0.03351	0.592	0.49371029527055171	0.04199	0.02152	0.06328	N	AEFI	0.052130	0.09276	N	-0.686384343782334	0.16408	0.8357438	-1.00506885666809	0.09673	0.482642	3.11286626288464E-4	0.06498	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.01	-5.39	0.02457	-3.773000	0.00416	-7.730000	0.01097	-3.191000	0.00112	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2768:0.3513:0.273:0.0989	2.469	0.04281	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001057	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.07143	2061.45	41	chr11	1248327	.	C	T	2061.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.915;DP=433;ExcessHet=0;FS=4.181;MLEAC=1;MLEAF=0.071;MQ=44.97;MQRankSum=1.86;QD=10.85;ReadPosRankSum=0.585;SOR=1.003	GT:AD:DP:GQ:PL	0/1:100,90:190:99:2072,0,2404	6	0	1	0
chr11	1248534	1248534	G	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.G11654T:p.R3885L	.	419	1097	6	0	0	6	0.00272727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00351146321911	0.0011	0.00219649	0.0018	0.0079	0.0010	0.0001	0	0.0006	0.0011	0.0051	9.7e-05	15	154602	rs201915227	0.0010	0.0011	0.0009	0.0012	0.0081	0.0010	0.0010	0.0073	0.0070	0.0081	0.0012	0.0046	0.0003	0.0002	0.0030	0.0003	0.0020	0.0066	0.0028	0.0028	0.0026	0.0030	0.0079	0.0025	0.0025	0.0072	0.0069	0.0079	0	0.0018	0.0058	0.0002	0.0003	0	0.0003	0.0014	0.0046	0.01	0.56456	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.355	0.33814	L	1.64	0.27822	T	-1.22	0.30964	N	0.092	0.07125	-1.0378	0.17985	T	0.054	0.22770	T	9	0.0058083534	0.00130	T	0.003511	0.07969	T	0.078	0.22779	.	.	0.043077524339	0.03247	0.25239203557179385	0.25153	.	.	0.190345525742	0.00231	T	0.021462	0.16706	T	-0.69051	0.00042	T	-0.759379	0.03135	T	0.00657624414947637	0.00073	T	0.20328	0.02343	T	0.045314126	0.07395	0.0661456	0.13507	0.045314126	0.07395	0.0661456	0.13506	1.136	0.00116	T	.	.	0.133	0.28750	B	.	.	-0.474655	0.01950	0.167	0.5472700598386504	0.05196	0.00168	0.00997	N	AEFI	0.034357	0.04242	N	-1.83466044309801	0.00466	0.02004353	-2.02050203566914	0.00277	0.01222917	0.160872933525117	0.17591	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.76	-5.53	0.02351	-4.821000	0.00211	-9.891000	0.00764	-3.182000	0.00113	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1806:0.2765:0.3941:0.1488	2.791	0.05057	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001063	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	1087.44	121	chr11	1248534	.	G	T	1087.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.85;DP=948;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=56.77;MQRankSum=-5.283;QD=11.45;ReadPosRankSum=0.531;SOR=0.708	GT:AD:DP:GQ:PL	0/0:226,0:226:99:0,120,1800	6	0	1	0
chr11	1621998	1621998	G	0	exonic	KRTAP5-4	.	.	.	.	590	340	341	209	42	801	0.52745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	5724.03	47	chr11	1621998	.	G	*	5724.03	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.81;DP=462;ExcessHet=0.0509;FS=0.583;MLEAC=2;MLEAF=0.143;MQ=59.63;MQRankSum=-0.108;QD=19.08;ReadPosRankSum=-0.484;SOR=0.75	GT:AD:DP:GQ:PL	0/0:3,0:117:99:3189,3196,3217	5	0	2	0
chr11	1630164	1630223	CTGTGGCTCCTGTGGGGGGTCCAAGGGGGGCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG	-	exonic	KRTAP5-5	.	nonframeshift deletion	KRTAP5-5:NM_001001480:exon1:c.324_383del:p.C132_Y218delinsYGCSQSSCCKPCCCSSGCGSSCCQSSCCKPYCCQSSCCKPYCCQSSCCKPCSCFSGCGSSCCQSSCYKPCCCQSSCCVPVCCQCKI*	.	452	1018	30	9	13	61	0.0230326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.621e-06	0	0	0	0	1.564e-05	0	0	.	.	.	.	0.0025	0.0025	0.0023	0.0027	0.0078	0.0024	0.0024	0.0070	0.0067	0.0078	0.0033	0.0093	0.0001	0.0010	0.0059	0.0020	0.0044	0.0048	0.0009	0.0043	0.0009	0.0008	0.0016	0.0007	0.0006	0.0012	0.0010	0.0016	0	0.0003	0.0020	0	0	0.0085	0.0006	0.0030	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	713.89	37	chr11	1630163	.	CCTGTGGCTCCTGTGGGGGGTCCAAGGGGGGCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG	C	713.89	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.511;DP=276;ExcessHet=0;FS=2.715;MLEAC=1;MLEAF=0.083;MQ=59.31;MQRankSum=-0.496;QD=32.45;ReadPosRankSum=-0.249;SOR=0.197	GT:AD:DP:GQ:PL	0/1:5,13:18:99:539,0,146	5	0	1	1
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	14104.4	99	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	*	14104.4	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.785;DP=924;ExcessHet=0.0509;FS=0.581;MLEAC=3;MLEAF=0.214;MQ=58.8;MQRankSum=-4.241;QD=20.06;ReadPosRankSum=1.56;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:184:99:.:.:7516,7516,7516:.	5	1	1	0
chr11	1747855	1747855	G	A	exonic	IFITM10	.	nonsynonymous SNV	IFITM10:NM_001170820:exon2:c.C349T:p.R117W	.	403	1063	53	3	0	59	0.0270023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	.	0.0059	0.00479233	0.0135	0.0010	0.0091	0	0.0013	0.0118	0.0060	0.0327	0.0031759	491	154602	rs190833491	0.0086	0.0083	0.0082	0.0091	0.0270	0.0085	0.0084	0.0235	0.0222	0.0016	0.0058	0.0158	0	0.0026	0.0270	0.0085	0.0095	0.0180	0.0058	0.0058	0.0059	0.0056	0.0133	0.0055	0.0053	0.0106	0.0097	0.0015	0.0011	0.0059	0.0173	0.0002	0.0014	0.0340	0.0081	0.0119	0.0133	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	0.304973	0.14532	U	0.585427	0.949505	0.37655	D	0.895	0.22405	L	0.7	0.51474	T	-3.29	0.65742	D	0.496	0.52918	-0.8802	0.49746	T	0.099	0.37034	T	8	0.007443428	0.00169	T	.	.	.	0.113	0.31778	.	.	0.483670899158	0.47999	0.4080566555781379	0.40721	.	.	0.858771443367	0.90929	D	0.079636	0.36175	T	-0.403777	0.02186	T	-0.337838	0.40590	T	0.0390152272993604	0.03513	T	0.90231	0.65919	D	0.23435475	0.46254	0.26971132	0.52854	0.23435475	0.46254	0.26971132	0.52853	-5.023	0.37089	T	.	.	0.217	0.57230	B	.;.;.	.;.;.	3.162821	0.42862	21.6	0.99864039732502885	0.94184	0.79864	0.39661	D	AEFDBHCIJ	0.464640	0.51305	N	-0.075401472781962	0.38473	2.25391	-0.103824497521162	0.35235	2.036153	0.999999223515479	0.74766	0.582742	0.33608	0	0.588066	0.40923	0	0.61531	0.40942	0	0.620976	0.48614	0	.	.	2.6	2.6	0.30173	2.462000	0.44706	4.026000	0.41295	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.094000	0.17991	0.0:0.0:0.7973:0.2027	10.006	0.41129	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025194	0.005155	0.004167	0.009709	0.166667	0.068182	0.051402	0.062500	0.07143	1808.44	37	chr11	1747855	.	G	A	1808.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.907;DP=376;ExcessHet=0;FS=1.163;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=-1.922;SOR=0.794	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1170	6	0	1	0
chr11	1956322	1956322	G	A	exonic	MRPL23	.	nonsynonymous SNV	MRPL23:NM_021134:exon5:c.G364A:p.A122T	.	428	679	340	75	0	490	0.265152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.1153	0.142772	0.1731	0.0428	0.2377	0.1502	0.1645	0.1581	0.1944	0.2832	0.166764	25782	154602	rs12812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	0.06086	T	0.592	0.08161	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.19781	P	0	0.06538	N	2.52	0.14160	T	-0.23	0.10656	N	0.018	0.00279	-0.9925	0.31959	T	0.000	0.00011	T	8	0.0044080913	0.00090	T	.	.	.	0.008	0.00669	.	.	.	.	0.3396820372802284	0.33881	0.158737186331	0.17918	0.323130786419	0.13895	T	3.62E-4	0.00107	T	-0.856647	0.00002	T	-0.85947	0.00848	T	0.000831064513770241	0.00008	T	0.40486	0.10377	T	0.021729477	0.00791	0.044156004	0.05659	0.021729477	0.00791	0.044156004	0.05658	-3.8	0.20805	T	.	.	0.067	0.02428	B	.;.	.;.	-0.790885	0.01125	0.052	0.76585184520990723	0.11527	0.04910	0.10661	N	AEFDBCI	0.224046	0.34832	N	-2.24886597635347	0.00060	0.002550947	-2.33368636121022	0.00056	0.002449201	0.999997702142817	0.74766	0.67177	0.52595	0	0.606735	0.50208	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	3.24	-6.48	0.01726	-1.253000	0.02987	-3.952000	0.02431	-1.233000	0.01324	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2037:0.1638:0.4707:0.1619	3.030	0.05732	964	0.07719	.;.	.	.	.	.	rs12812	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.184290	0.131313	0.144022	0.184211	0.150000	0.232759	0.243902	0.219697	0.2143	5304.74	33	chr11	1956322	.	G	A	5304.74	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.957;DP=590;ExcessHet=1.1394;FS=2.427;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=0.206;SOR=0.555	GT:AD:DP:GQ:PL	0/1:102,96:198:99:2149,0,2366	4	0	3	0
chr11	2140200	2140200	G	A	exonic	IGF2	.	stopgain	IGF2:NM_001127598:exon2:c.C97T:p.Q33X	.	416	1102	4	0	0	4	0.00181159	.	.	.	730756	not_provided|Inborn_genetic_diseases|Wilms_tumor_1|Beckwith-Wiedemann_syndrome|Silver-Russell_syndrome_1|Silver-Russell_syndrome_3	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070,Orphanet:654|MONDO:MONDO:0007534,MedGen:C0004903,OMIM:130650,Orphanet:116|MONDO:MONDO:0020796,MedGen:C5393125,OMIM:180860,Orphanet:813|MONDO:MONDO:0014663,MedGen:C4225307,OMIM:616489	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0007	0.000798722	0.0007	0	0.0012	0	0.0003	0.0009	0	0.0009	0.0006792	105	154602	rs200441006	0.0011	0.0011	0.0011	0.0012	0.0013	0.0011	0.0011	0.0012	0.0012	8.964e-05	0.0008	0.0005	2.519e-05	7.55e-05	0.0003	0.0013	0.0010	0.0013	0.0007	0.0007	0.0007	0.0006	0.0014	0.0006	0.0005	0.0009	0.0008	0.0001	0	0.0014	0	0.0002	0.0002	0	0.0010	0.0014	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.566	0.58968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157435	0.69963	D	0.407817	0.92363	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	1.850866	0.23511	16.05	0.99691291202444132	0.79977	0.15169	0.18778	N	AEFDBHCI	0.119758	0.23360	N	0.409517858981619	0.61944	4.402692	0.0797033656612907	0.43530	2.652803	0.999571511099646	0.40495	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	1.9	0.928	0.18569	1.099000	0.30625	1.455000	0.26636	0.504000	0.22967	0.033000	0.20612	0.903000	0.28003	0.987000	0.62547	0.2462:0.0:0.7538:0.0	3.812	0.08316	988	0.01987	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.1429	2107.24	37	chr11	2140200	.	G	A	2107.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.28;DP=406;ExcessHet=0.3476;FS=3.565;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=8.5;ReadPosRankSum=0.744;SOR=0.505	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1053	5	0	2	0
chr11	2417803	2417803	G	T	exonic	TRPM5	.	nonsynonymous SNV	TRPM5:NM_014555:exon7:c.C933A:p.H311Q	.	426	1093	3	0	0	3	0.00137049	.	.	.	2806674	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.230	0.0747293318014	0.0016	0.000798722	0.0028	0.0006	0.0003	0	0.0090	0.0040	0	0.0024	0.0013777	213	154602	rs138197888	0.0017	0.0017	0.0017	0.0017	0.0023	0.0016	0.0016	0.0021	0.0020	0.0002	0.0007	0.0013	5.139e-05	0.0013	0.0013	0.0018	0.0014	0.0023	0.0012	0.0012	0.0013	0.0011	0.0021	0.0011	0.0010	0.0018	0.0017	0.0004	0	6.533e-05	0.0017	0.0002	0.0011	0	0.0021	0.0009	0.0006	0.824	0.03421	T	0.239	0.24694	T	0.93	0.63424	P	0.713	0.64565	P	0.004452	0.33730	N	0.237159	0.938578	0.26860	N	1.59	0.40313	L	-0.36	0.68754	T	-1.44	0.35399	N	0.258	0.29774	-0.8159	0.54189	T	0.209	0.56812	T	10	0.014400184	0.00303	T	0.074729	0.72114	D	0.230	0.53062	0.654	0.79172	0.0297737177859	0.01360	0.4372345306045129	0.43640	0.0938026689721	0.10595	0.472316712141	0.34999	T	0.183337	0.53565	T	-0.524335	0.00415	T	-0.531496	0.19137	T	0.0262451696136681	0.01439	T	0.549745	0.18930	T	0.059072014	0.11963	0.0629099	0.12382	0.059072014	0.11962	0.0629099	0.12382	-7.511	0.57688	D	.	.	0.161	0.37407	B	.;.;.;.	.;.;.;.	1.015993	0.13953	10.51	0.28779958386757981	0.01494	0.63082	0.31979	D	AEFDBI	0.187715	0.31501	N	-0.887185837181931	0.11147	0.5363483	-1.00637868353728	0.09644	0.4810252	0.00410448877128394	0.10418	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	3.92	-0.619	0.10991	0.006000	0.13051	0.330000	0.17274	-1.620000	0.00869	0.961000	0.33663	0.975000	0.29991	0.117000	0.19042	0.0838:0.2722:0.365:0.2789	3.169	0.06154	988	0.01987	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000509	0.000000	0.000000	0.000000	0.000000	0.000000	0.003106	0.000000	0.07143	238.63	26	chr11	2417803	.	G	T	238.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.724;DP=194;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=-1.287;SOR=0.73	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1142	6	0	1	0
chr11	3038130	3038130	C	A	exonic	CARS1	.	nonsynonymous SNV	CARS1:NM_001378140:exon4:c.G196T:p.A66S,CARS1:NM_001378137:exon6:c.G442T:p.A148S,CARS1:NM_001378138:exon6:c.G442T:p.A148S,CARS1:NM_001751:exon6:c.G472T:p.A158S,CARS1:NM_139273:exon6:c.G472T:p.A158S,CARS1:NM_001014437:exon7:c.G721T:p.A241S,CARS1:NM_001194997:exon7:c.G721T:p.A241S,CARS1:NM_001378136:exon7:c.G511T:p.A171S,CARS1:NM_001378139:exon7:c.G442T:p.A148S	.	434	1016	66	6	0	78	0.0369668	.	.	.	701727	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.068	.	0.0078	0.00738818	0.0099	0.0014	0.0065	0.0001	0.0030	0.0104	0.0187	0.0228	0.0095212	1472	154602	rs12796489	0.0100	0.0100	0.0094	0.0106	0.0394	0.0099	0.0098	0.0352	0.0335	0.0017	0.0067	0.0121	7.557e-05	0.0040	0.0394	0.0097	0.0110	0.0239	0.0076	0.0076	0.0076	0.0076	0.0232	0.0072	0.0071	0.0197	0.0184	0.0017	0	0.0102	0.0110	0	0.0033	0.0408	0.0105	0.0099	0.0232	0.643	0.04957	T	0.52	0.10465	T	0.003	0.12996	B	0.015	0.20792	B	0.001760	0.38106	N	0.256618	1	0.08975	N	0.325	0.10370	N	0.94	0.43672	T	0.24	0.04533	N	0.146	0.15609	-1.0238	0.22476	T	0.042	0.18035	T	10	0.0089785755	0.00203	T	.	.	.	0.068	0.19811	.	.	0.268211541103	0.26431	0.41422578982597624	0.41338	0.231550034422	0.25707	0.272399067879	0.06456	T	0.065227	0.32635	T	-0.664305	0.00059	T	-0.709419	0.05325	T	0.000694211314457137	0.00006	T	.	.	.	0.05427984	0.10392	0.04404145	0.05617	0.05427984	0.10391	0.04404145	0.05616	-4.286	0.27980	T	.	.	0.080	0.09530	B	.;.;.;.	.;.;.;.	-0.223372	0.02973	0.443	0.88549503278566	0.18065	0.25720	0.22782	N	AEFGBCI	0.105898	0.21146	N	-1.04813854451331	0.07624	0.354797	-1.07389750514943	0.08216	0.4030183	0.999994626051788	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.86	1.89	0.24700	0.330000	0.19460	-0.382000	0.09534	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.1906:0.7114:0.0:0.098	6.191	0.19738	884	0.28482	.;tRNA synthetases class I, catalytic domain|tRNA synthetases class I, catalytic domain;.;tRNA synthetases class I, catalytic domain|tRNA synthetases class I, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.024673	0.020202	0.021739	0.023392	0.000000	0.025862	0.024390	0.037879	0.07143	1183.44	84	chr11	3038130	.	C	A	1183.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.23;DP=266;ExcessHet=0;FS=2.955;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=0.885;SOR=0.407	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr11	3639026	3639026	C	A	exonic	ART5	.	nonsynonymous SNV	ART5:NM_001297668:exon3:c.G593T:p.R198M,ART5:NM_053017:exon3:c.G797T:p.R266M,ART5:NM_001079536:exon4:c.G797T:p.R266M	.	412	1080	27	3	0	33	0.0150479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0052	0.00239617	0.0084	0.0014	0.0082	0	0.0182	0.0100	0.0099	0.0096	0.0039133	605	154602	rs148523079	0.0074	0.0073	0.0072	0.0076	0.0091	0.0073	0.0073	0.0084	0.0081	0.0013	0.0032	0.0086	2.789e-05	0.0077	0.0091	0.0079	0.0072	0.0089	0.0057	0.0056	0.0053	0.0061	0.0077	0.0053	0.0052	0.0072	0.0070	0.0014	0.0362	0.0052	0.0075	0	0.0084	0.0034	0.0077	0.0066	0.0068	0.059	0.53900	T	0.1	0.48594	T	0.878	0.48285	P	0.326	0.41929	B	0.549060	0.05359	N	1.257310	0.979421	0.25183	N	1.625	0.41611	L	3.06	0.10008	T	-1.23	0.33197	N	0.582	0.60325	-1.0133	0.25880	T	0.018	0.07565	T	10	0.002125442	0.00031	T	.	.	.	0.064	0.18567	.	.	0.250039746154	0.24611	0.4551377429819848	0.45431	0.170774591595	0.19242	0.343140482903	0.16907	T	0.020565	0.16172	T	-0.501183	0.00563	T	-0.482303	0.24202	T	0.0152994873952525	0.00339	T	0.39826	0.21221	T	0.07419399	0.16632	0.05595085	0.09910	0.07419399	0.16631	0.05595085	0.09910	-5.488	0.41756	T	.	.	0.173	0.38853	B	.;.;.;.	.;.;.;.	3.273964	0.44829	22.0	0.93760083239786562	0.23706	0.58645	0.30697	D	AEFDGBI	0.107929	0.21488	N	-0.0969218596645108	0.37526	2.184568	-0.0179649638805516	0.38905	2.298789	0.13553382904724	0.17174	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.87	2.45	0.28953	0.353000	0.19868	0.768000	0.21372	0.596000	0.33519	0.225000	0.24590	0.239000	0.23838	0.977000	0.56843	0.1947:0.5786:0.0:0.2266	3.499	0.07229	836	0.38045	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009494	0.010638	0.002865	0.003030	0.000000	0.018182	0.016340	0.019084	0.07143	1649.44	39	chr11	3639026	.	C	A	1649.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.43;DP=329;ExcessHet=0;FS=0.641;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=1.16;SOR=0.608	GT:AD:DP:GQ:PL	0/1:65,68:133:99:1660,0,1419	6	0	1	0
chr11	4367590	4367590	A	G	exonic	OR52B4	.	nonsynonymous SNV	OR52B4:NM_001005161:exon1:c.T706C:p.C236R	.	429	1071	22	0	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0057	0.00439297	0.0071	0.0040	0.0033	0	0.0144	0.0081	0.0167	0.0077	0.0070051	1083	154602	rs188379419	0.0072	0.0072	0.0072	0.0072	0.0088	0.0071	0.0071	0.0076	0.0074	0.0042	0.0044	0.0005	0	0.0126	0.0088	0.0075	0.0064	0.0081	0.0062	0.0062	0.0062	0.0062	0.0083	0.0058	0.0057	0.0066	0.0064	0.0039	0	0.0077	0	0	0.0112	0.0034	0.0071	0.0085	0.0083	.	.	.	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.051494	0.22977	N	0.221665	1	0.08975	N	-2.71	0.00031	N	.	.	.	.	.	.	.	.	-0.9066	0.47262	T	0.000	0.00011	T	10	0.0037121773	0.00069	T	.	.	.	.	.	.	.	.	.	0.1851336697854112	0.18431	.	.	0.168012857437	0.00025	T	0.00487	0.04291	T	-0.76087	0.00015	T	-0.859174	0.00852	T	0.00399443872231525	0.00042	T	0.39886	0.10126	T	0.083401285	0.19259	0.13406897	0.32135	0.083401285	0.19259	0.13406897	0.32135	-0.86	0.00857	T	.	.	0.043	0.00029	B	.	.	0.298625	0.06746	3.257	0.1651914719798423	0.00446	0.00603	0.02688	N	AEFI	0.022254	0.01089	N	-1.5929550592995	0.01300	0.05661013	-1.41894528192085	0.03063	0.1421457	2.22779719317676E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.27	2.43	0.28797	-0.274000	0.08569	.	.	-0.694000	0.04098	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3919:0.1414:0.4667:0.0	5.044	0.13814	851	0.35303	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.000000	0.013587	0.000000	0.000000	0.008621	0.009146	0.015152	0.07143	88.44	36	chr11	4367590	.	A	G	88.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.18;DP=230;ExcessHet=0;FS=2.808;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=0.7;SOR=0.148	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	6	0	1	0
chr11	4545230	4545230	T	-	exonic	OR52M1	.	frameshift deletion	OR52M1:NM_001004137:exon1:c.40delT:p.F14Sfs*32	.	429	1053	39	1	0	41	0.0190964	.	.	.	3221646	OR52M1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	0.0077	0.0181709	0.0084	0.0203	0.0027	0.0488	0	0.0005	0.0046	0.0211	0.001191	31	26028	rs77893620	0.0035	0.0035	0.0031	0.0040	0.0361	0.0035	0.0034	0.0345	0.0339	0.0230	0.0025	0.0002	0.0361	0	0.0064	0.0007	0.0077	0.0186	0.0091	0.0091	0.0088	0.0093	0.0445	0.0087	0.0085	0.0398	0.0380	0.0218	0	0.0052	0	0.0445	0	0	0.0006	0.0104	0.0214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009567	0.000000	0.005435	0.014620	0.000000	0.008621	0.009146	0.018939	0.07143	786.59	45	chr11	4545229	.	CT	C	786.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.565;DP=228;ExcessHet=0;FS=2.991;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.48;ReadPosRankSum=0.377;SOR=0.297	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1213	6	0	1	0
chr11	4652992	4652992	G	A	exonic	OR51E1	.	nonsynonymous SNV	OR51E1:NM_152430:exon2:c.G466A:p.A156T	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	.	7.7e-05	0.00259585	0.0013	0	8.675e-05	0	0	1.527e-05	0	0.0115	0.0012031	186	154602	rs202113356	0.0006	0.0006	0.0003	0.0009	0.0099	0.0006	0.0006	0.0094	0.0091	5.984e-05	0	0	7.567e-05	0	0.0003	2.258e-05	0.0008	0.0099	0.0003	0.0003	0.0002	0.0005	0.0097	0.0003	0.0002	0.0075	0.0067	2.407e-05	0	0	0	0	0	0	2.94e-05	0	0.0097	0.282	0.15406	T	0.279	0.21745	T	.	.	.	.	.	.	0.329104	0.14144	N	0.646617	1	0.20843	N	.	.	.	1.19	0.37578	T	-0.1	0.08495	N	0.064	0.03613	-1.0442	0.16059	T	0.056	0.23753	T	10	0.0030475557	0.00050	T	.	.	.	0.085	0.24743	.	.	0.391000631824	0.38715	0.20668515969704054	0.20584	0.125539633246	0.14154	0.314813524485	0.12635	T	.	.	.	-0.562772	0.00244	T	-0.571765	0.15288	T	0.0133404401252929	0.00240	T	0.240376	0.03449	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10159	B	.	.	2.389843	0.30685	18.51	0.98572996590887241	0.43128	0.17530	0.19877	N	AEFBI	0.246965	0.36763	N	-0.591447620681131	0.19203	1.003195	-0.473395872894907	0.22889	1.245522	0.0161419512914704	0.12797	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.98	4.04	0.46262	0.237000	0.17763	.	.	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.961000	0.51904	0.0921:0.0:0.9079:0.0	11.403	0.49124	814	0.42100	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.003788	0.07143	2407.49	84	chr11	4652992	.	G	A	2407.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.798;DP=626;ExcessHet=0;FS=8.54;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=0.413;SOR=0.903	GT:AD:DP:GQ:PL	0/0:142,0:142:99:0,120,1800	6	0	1	0
chr11	4653052	4653052	A	G	exonic	OR51E1	.	nonsynonymous SNV	OR51E1:NM_152430:exon2:c.A526G:p.I176V	.	433	995	91	3	0	97	0.0464782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	0.0028	0.0115815	0.0098	0.0006	0.0034	0	0.0002	0.0041	0.0100	0.0547	0.0085704	1325	154602	rs61746313	0.0051	0.0051	0.0035	0.0068	0.0518	0.0050	0.0050	0.0505	0.0500	0.0005	0.0027	0.0085	0.0002	5.617e-05	0.0307	0.0019	0.0070	0.0518	0.0039	0.0039	0.0032	0.0046	0.0496	0.0036	0.0035	0.0445	0.0425	0.0005	0.0011	0.0058	0.0086	0.0004	0.0003	0.0136	0.0028	0.0057	0.0496	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.140478	0.18308	N	0.501168	1	0.08975	N	.	.	.	1.29	0.35775	T	0.38	0.03579	N	0.023	0.00407	-0.9871	0.33323	T	0.033	0.14029	T	10	0.001768142	0.00023	T	.	.	.	0.095	0.27398	.	.	0.0297737177859	0.01360	0.12332486038305565	0.12258	0.105741972977	0.11956	0.271344333887	0.06317	T	.	.	.	-0.722216	0.00027	T	-0.770713	0.02744	T	0.00988813361863609	0.00131	T	0.357364	0.08134	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.02894	B	.	.	0.262711	0.06410	2.879	0.16601044500135223	0.00451	0.05363	0.11223	N	AEFBI	0.114271	0.22514	N	-1.06097716116596	0.07374	0.3423423	-0.968385012516924	0.10500	0.5292187	0.00349446597818093	0.10145	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.98	3.87	0.43823	-0.128000	0.10508	.	.	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.739000	0.35404	0.7307:0.0:0.2692:0.0	5.953	0.18491	814	0.42100	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019134	0.000000	0.009511	0.014620	0.000000	0.008621	0.033537	0.045455	0.07143	53.44	84	chr11	4653052	.	A	G	53.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.83;DP=582;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=-1.834;SOR=0.223	GT:AD:DP:GQ:PL	0/0:142,0:142:99:0,120,1800	6	0	1	0
chr11	4681807	4681807	-	C	exonic	OR51E2	.	frameshift insertion	OR51E2:NM_030774:exon2:c.904dupG:p.V302Gfs*10	.	435	1081	6	0	0	6	0.00276753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	7.492e-05	0	0.0005	8.41e-05	13	154602	rs763844103	7.456e-05	7.456e-05	5.581e-05	9.35e-05	0.0005	6.315e-05	5.873e-05	0.0003	0.0003	0	2.236e-05	0	0	0	0.0002	5.396e-05	0.0001	0.0005	3.939e-05	3.937e-05	1.285e-05	6.714e-05	0.0006	1.714e-05	1.129e-05	0.0002	9.007e-05	0	0	0	0	0	0	0	4.41e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1999.4	133	chr11	4681807	.	A	AC	1999.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.422;DP=317;ExcessHet=0;FS=1.363;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=-1.019;SOR=0.822	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1318	6	0	1	0
chr11	4923931	4923931	C	T	exonic	OR51G1	.	nonsynonymous SNV	OR51G1:NM_001005237:exon1:c.G409A:p.V137I	.	415	1090	17	0	0	17	0.00773782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0032	0.00379393	0.0027	0.0081	0.0016	0.0002	0	0.0002	0.0066	0.0122	0.0023997	371	154602	rs145607331	0.0011	0.0011	0.0008	0.0015	0.0119	0.0011	0.0011	0.0113	0.0111	0.0072	0.0015	0.0004	5.039e-05	0	0.0036	0.0002	0.0021	0.0119	0.0033	0.0033	0.0033	0.0033	0.0119	0.0031	0.0030	0.0094	0.0085	0.0093	0	0.0026	0	0	0	0	0.0002	0.0024	0.0119	.	.	.	.	.	.	0.002	0.09854	B	0.001	0.04355	B	0.200551	0.16611	N	0.437363	0.970807	0.25685	N	-1.29	0.00724	N	.	.	.	.	.	.	.	.	-1.0038	0.28814	T	0.006	0.01907	T	10	0.011270016	0.00247	T	.	.	.	.	.	.	.	.	.	0.12785814721803207	0.12710	.	.	0.21312341094	0.00951	T	2.86E-4	0.00069	T	-0.787337	0.00010	T	-0.893344	0.00550	T	0.00573077374390745	0.00063	T	0.354964	0.08031	T	0.01774362	0.00299	0.03550361	0.02815	0.01774362	0.00299	0.03550361	0.02815	-1.032	0.01035	T	.	.	0.069	0.03128	B	.	.	-1.391376	0.00366	0.007	0.53104431938590912	0.04875	0.01281	0.04472	N	AEFGBI	0.037579	0.05190	N	-2.35276002061783	0.00035	0.001487029	-2.32492563772922	0.00058	0.002563659	0.352579824946261	0.19697	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.2	-8.41	0.00840	-2.223000	0.01297	.	.	-2.793000	0.00187	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1062:0.0998:0.794	12.105	0.53106	744	0.52588	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.004076	0.005848	0.000000	0.000000	0.000000	0.026515	0.07143	1639.45	33	chr11	4923931	.	C	T	1639.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.06;DP=313;ExcessHet=0;FS=2.325;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=0.751;SOR=0.48	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,101,1307	6	0	1	0
chr11	5070094	5070094	C	T	exonic	OR52E1	.	unknown	UNKNOWN	.	858	650	14	0	0	14	0.0106545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0076	0	0.0142	0	0.0046	0.0084	0	0.0299	0.0012807	198	154602	rs570789731	0.0028	0.0016	0.0028	0.0029	0.0135	0.0027	0.0026	0.0087	0.0072	0.0001	0.0011	0.0261	0	0.0007	0.0135	0.0022	0.0036	0.0068	0.0020	0.0020	0.0020	0.0020	0.0083	0.0018	0.0017	0.0063	0.0056	0.0005	0	0.0009	0.0213	0	0.0006	0.0136	0.0020	0.0047	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2329.44	34	chr11	5070094	.	C	T	2329.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.712;DP=445;ExcessHet=0;FS=1.744;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.534;SOR=0.615	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1211	6	0	1	0
chr11	5351792	5351792	C	G	exonic	OR51B6	.	nonsynonymous SNV	OR51B6:NM_001004750:exon1:c.C285G:p.C95W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.0559336047313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0093	0.0026	0.0022	0.0029	0.0023	0.0023	0.0028	0.0028	0.0027	6.717e-05	0.0009	0.0002	1.873e-05	0.0012	0.0029	0.0019	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000016	0.62929	D	0.000000	1	0.81001	D	4.81	0.99662	H	6.65	0.00510	T	-10.89	0.99244	D	0.807	0.80278	-1.1620	0.00709	T	0.013	0.05033	T	10	0.9621227	0.95635	D	0.055934	0.66418	D	0.313	0.63482	0.748	0.87905	0.527045900269	0.52351	0.471107557204946	0.47029	0.0116871865332	0.01096	0.339552879333	0.16371	T	0.119847	0.44167	T	0.113068	0.65668	D	-0.0753619	0.65240	T	0.99993371963501	0.99782	D	0.909809	0.68064	D	0.97552437	0.98751	0.92103964	0.96471	0.97552437	0.98751	0.92103964	0.96472	-8.765	0.66172	D	.	.	0.343	0.56118	A	.	.	2.116618	0.26937	17.29	0.98967027029080845	0.49442	0.39672	0.26265	N	AEFBI	0.767818	0.70356	D	0.108662788856825	0.46867	2.920579	-0.159160573312792	0.33057	1.887009	0.0102554648337644	0.11993	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	2.16	0.26663	-0.170000	0.09886	.	.	-1.712000	0.00741	0.001000	0.13787	0.000000	0.08366	0.014000	0.10232	0.0:0.6705:0.0:0.3295	8.371	0.31576	861	0.33516	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	451.68	91	chr11	5351792	.	C	G	451.68	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-4.374;DP=829;ExcessHet=1.383;FS=326.763;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.07;ReadPosRankSum=-0.268;SOR=9.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,47:201:99:0|1:5351789_C_G:290,0,4835:5351789	2	0	3	2
chr11	5352422	5352422	C	G	exonic	OR51B6	.	nonsynonymous SNV	OR51B6:NM_001004750:exon1:c.C915G:p.F305L	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00231092397447	0.0045	0.00239617	0.0041	0.0005	0.0024	0	0.0033	0.0060	0.0034	0.0022	0.003868	598	154602	rs75370776	0.0044	0.0044	0.0045	0.0042	0.0052	0.0043	0.0042	0.0050	0.0050	0.0006	0.0016	0.0012	0	0.0035	0.0007	0.0052	0.0033	0.0015	0.0027	0.0027	0.0032	0.0023	0.0044	0.0025	0.0024	0.0040	0.0039	0.0007	0.0011	0.0023	0.0006	0	0.0027	0	0.0044	0.0028	0.0023	0.243	0.17526	T	0.253	0.23501	T	0.001	0.07471	B	0.008	0.13708	B	0.008752	0.30686	N	0.228496	0.999817	0.20249	N	0.925	0.23481	L	1.48	0.31731	T	-1.85	0.43334	N	0.201	0.22228	-1.0167	0.24787	T	0.022	0.09421	T	10	0.005732268	0.00128	T	0.002311	0.04452	T	0.035	0.08770	0.676	0.81398	0.134241683229	0.13084	0.03670884064332434	0.03617	0.00339090980937	0.00287	0.357012540102	0.18950	T	0.005463	0.04911	T	-0.628982	0.00097	T	-0.673931	0.07359	T	0.00318818336025367	0.00034	T	0.468553	0.13811	T	0.06971091	0.15296	0.07961283	0.17939	0.06971091	0.15295	0.07961283	0.17939	-4.207	0.26853	T	.	.	0.360	0.57199	A	.	.	0.029495	0.04488	1.199	0.58198520304171475	0.05939	0.07022	0.13048	N	AEFGBI	0.123258	0.23878	N	-1.34493296268098	0.03178	0.1415202	-1.36605841449837	0.03620	0.1692354	7.67081927733627E-4	0.07776	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.13	-2.3	0.06399	-0.996000	0.03819	.	.	-1.639000	0.00843	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1221:0.455:0.0:0.423	5.918	0.18306	862	0.33134	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	2586.45	34	chr11	5352422	.	C	G	2586.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.806;DP=431;ExcessHet=0;FS=1.426;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.59;ReadPosRankSum=1.33;SOR=0.88	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:67,0:67:99:.:.:0,120,1800:.	6	0	1	0
chr11	5515917	5515917	C	G	exonic	UBQLNL	.	nonsynonymous SNV	UBQLNL:NM_145053:exon1:c.G525C:p.M175I	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0020906817126	0.0002	0.000399361	0.0003	0.0004	0	0	0	0.0003	0.0011	0.0002	0.0002717	42	154602	rs148278465	0.0005	0.0005	0.0005	0.0005	0.0006	0.0005	0.0005	0.0006	0.0005	0.0002	0.0001	0	0	0	0	0.0006	0.0004	0.0005	0.0004	0.0004	0.0005	0.0003	0.0007	0.0003	0.0003	0.0004	0.0004	0.0003	0	0.0007	0	0	0	0	0.0006	0.0014	0	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.007	0.12992	B	0.431850	0.12738	N	0.720175	1	0.81001	D	0.505	0.13445	N	0.74	0.50459	T	-0.06	0.07882	N	0.168	0.17828	-1.0060	0.28156	T	0.050	0.21339	T	10	0.018575609	0.00405	T	0.002091	0.03855	T	0.023	0.04649	0.349	0.34598	0.15556083564	0.15200	0.3822235857994525	0.38137	0.0142987455562	0.01361	0.338753342628	0.16250	T	0.00301	0.02412	T	-0.466278	0.00897	T	-0.562614	0.16133	T	0.0093960864469409	0.00120	T	0.422258	0.11242	T	0.047996655	0.08294	0.054771096	0.09482	0.047996655	0.08294	0.054771096	0.09482	-2.236	0.04219	T	.	.	0.144	0.31832	B	.	.	-0.402852	0.02202	0.219	0.67200208002523854	0.08283	0.49547	0.28458	N	AEFBI	0.118465	0.23163	N	-0.939210328464884	0.09936	0.4725321	-0.783426087022524	0.14900	0.7810267	0.283325536064486	0.19010	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	4.87	0.57	0.16532	-0.153000	0.10130	.	.	-0.233000	0.07663	0.949000	0.33028	0.000000	0.08366	0.343000	0.25501	0.1948:0.4848:0.0:0.3204	3.302	0.06575	697	0.58201	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	867.49	68	chr11	5515917	.	C	G	867.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.83;DP=471;ExcessHet=0;FS=5.163;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=-0.359;SOR=0.297	GT:AD:DP:GQ:PL	0/0:141,0:141:99:0,120,1800	6	0	1	0
chr11	5968364	5968364	G	A	exonic	OR56A5	.	nonsynonymous SNV	OR56A5:NM_001146033:exon1:c.C131T:p.A44V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.006e-05	0	0	0	0.0002	1.554e-05	0	0.0003	4.53e-05	7	154602	rs749176682	4.721e-05	4.72e-05	3.54e-05	5.914e-05	0.0005	3.794e-05	3.476e-05	0.0002	0.0002	0	0	0	0	0	0.0005	3.508e-05	4.969e-05	0.0003	5.911e-05	5.906e-05	2.57e-05	9.403e-05	0.0008	3.076e-05	2.209e-05	0.0003	0.0002	2.407e-05	0	0	0	0	9.418e-05	0	4.411e-05	0	0.0008	.	.	.	0.005	0.72224	D	0.999	0.77913	D	0.997	0.86255	D	.	.	.	.	.	.	.	1.52	0.38360	L	.	.	.	.	.	.	0.136	0.13341	.	.	.	.	.	.	.	0.28356808	0.45937	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.3655866613539852	0.36472	.	.	0.303101241589	0.10864	T	0.015169	0.12778	T	-0.241686	0.15135	T	-0.288749	0.45902	T	.	.	.	0.970303	0.89317	D	0.07534457	0.16968	0.2862833	0.54636	0.07534457	0.16967	0.2862833	0.54635	-5.904	0.45470	T	.	.	0.372	0.57969	A	.	.	2.796107	0.36766	20.3	0.64891624210208765	0.07619	0.35428	0.25299	N	AEFBI	.	.	.	.	.	.	.	.	.	2.10778055264717E-4	0.05948	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.170213	0.28859	4.49	2.6	0.30173	0.061000	0.14242	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.202000	0.21954	0.1873:0.1627:0.6499:0.0	5.780	0.17564	719	0.55657	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1504.27	37	chr11	5968364	.	G	A	1504.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.623;DP=315;ExcessHet=0;FS=0.673;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=1.74;SOR=0.624	GT:AD:DP:GQ:PL	0/1:59,61:120:99:1514,0,1518	5	0	1	1
chr11	6002796	6002796	A	G	exonic	OR56A4	.	nonsynonymous SNV	OR56A4:NM_001005179:exon1:c.T197C:p.L66P	.	417	1088	17	0	0	17	0.00775194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	0.0150692908411	.	.	0.0007	0	0	0	0	0.0005	0.0011	0.0033	3.84e-05	1	26028	rs748520158	6.375e-05	0.0009	5.045e-05	7.719e-05	0.0005	5.305e-05	4.921e-05	0.0003	0.0003	0	2.237e-05	0.0012	0	0	0	1.35e-05	0.0001	0.0005	0.0002	0.0008	7.717e-05	0.0003	0.0010	0.0001	9.708e-05	0.0004	0.0003	2.406e-05	0	0.0001	0.0030	0	0	0	5.884e-05	0.0014	0.0010	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.986	0.76916	D	0.014745	0.28441	U	0.000000	0.999998	0.58761	D	3.84	0.95699	H	2.47	0.14783	T	-6.44	0.91353	D	0.867	0.86404	-0.7231	0.59309	T	0.177	0.52162	T	10	0.15952164	0.29970	T	0.015069	0.35586	T	0.404	0.71714	.	.	0.421184727016	0.41734	0.8943037575672179	0.89401	0.50988881724	0.49125	0.285736143589	0.08304	T	0.192068	0.54710	T	0.208508	0.74689	D	0.0617311	0.74359	D	0.586133265219808	0.35854	D	0.674733	0.28305	T	0.91616666	0.92877	0.87566775	0.93259	0.91616666	0.92879	0.87566775	0.93260	-10.804	0.78572	D	.	.	0.578	0.68805	P	.;.;.;.	.;.;.;.	4.756360	0.76857	26.6	0.99868389509597266	0.94637	0.98254	0.80969	D	AEFI	0.894836	0.83424	D	0.716542829960498	0.80716	7.356459	0.536485768151018	0.70463	5.508913	0.00208774875798834	0.09143	0.487112	0.14033	0	0.573888	0.26702	0	0.55458	0.18720	0	0.564101	0.26826	0	.	.	3.62	2.43	0.28797	7.281000	0.77985	.	.	0.756000	0.94297	0.945000	0.32849	1.000000	0.68203	0.969000	0.54022	0.8264:0.0:0.0:0.1736	8.483	0.32217	808	0.43318	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.008621	0.006098	0.000000	0.07143	202.49	33	chr11	6002796	.	A	G	202.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.07;DP=260;ExcessHet=0;FS=2.995;MLEAC=1;MLEAF=0.071;MQ=54.17;MQRankSum=-3.256;QD=2.63;ReadPosRankSum=0.722;SOR=1.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1239:.	6	0	1	0
chr11	6002814	6002814	T	A	exonic	OR56A4	.	nonsynonymous SNV	OR56A4:NM_001005179:exon1:c.A179T:p.Q60L	.	418	1086	18	0	0	18	0.00821918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00310288822809	.	0.00159744	0.0009	0	8.651e-05	0	0	0.0007	0	0.0036	0.0003074	8	26028	rs573348744	0.0002	0.0009	0.0001	0.0002	0.0013	0.0001	0.0001	0.0011	0.0010	0	4.474e-05	0.0030	0	0	0.0004	2.429e-05	0.0003	0.0013	0.0004	0.0008	0.0002	0.0006	0.0019	0.0003	0.0003	0.0010	0.0007	2.406e-05	0	0.0003	0.0080	0	0	0	0.0002	0.0019	0.0019	0.001	0.78490	D	0.003	0.76473	D	0.136	0.27347	B	0.091	0.29943	B	0.603978	0.10931	U	0.676215	0.892283	0.27859	N	1.545	0.39105	L	7.73	0.00343	T	-5.37	0.84882	D	0.21	0.23380	-1.0512	0.14064	T	0.002	0.00556	T	10	0.011598259	0.00253	T	0.003103	0.06726	T	0.094	0.27141	.	.	0.223146558224	0.21909	0.20182792304734926	0.20099	0.128373630327	0.14471	0.195110529661	0.00329	T	0.139195	0.47309	T	-0.181999	0.23439	T	-0.499206	0.22430	T	0.114993181662274	0.13933	T	0.0620938	0.00452	T	0.19301304	0.40993	0.24828698	0.50376	0.19301304	0.40993	0.24828698	0.50375	-8.742	0.66021	D	.	.	0.230	0.46893	B	.;.;.;.	.;.;.;.	3.441444	0.47879	22.5	0.9926401870347723	0.57322	0.60168	0.31119	D	AEFI	0.274599	0.38975	N	-0.29137709439402	0.29481	1.635203	-0.325694079119239	0.27271	1.512113	0.00201802303790374	0.09087	0.487112	0.14033	0	0.573888	0.26702	0	0.55458	0.18720	0	0.564101	0.26826	0	.	.	3.62	2.42	0.28720	0.653000	0.24588	.	.	0.665000	0.62972	0.000000	0.06391	0.001000	0.17328	0.945000	0.48827	0.0:0.1024:0.0:0.8976	8.216	0.30670	808	0.43318	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001566	0.000000	0.000000	0.000000	0.000000	0.008621	0.006098	0.000000	0.07143	366.63	33	chr11	6002814	.	T	A	366.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.133;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=54.8;MQRankSum=-2.024;QD=4.26;ReadPosRankSum=-1.394;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1239:.	6	0	1	0
chr11	6027424	6027424	T	A	exonic	OR56A1	.	nonsynonymous SNV	OR56A1:NM_001001917:exon1:c.A281T:p.Y94F	.	415	1089	18	0	0	18	0.00819672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.00312353429315	0.0005	0.00179712	0.0016	0.0002	0.0002	0	0	0.0013	0.0011	0.0061	0.0001682	26	154602	rs145879154	0.0010	0.0010	0.0008	0.0012	0.0062	0.0010	0.0009	0.0057	0.0056	0.0001	0.0002	0.0192	0	0	0.0023	0.0002	0.0023	0.0062	0.0009	0.0010	0.0006	0.0013	0.0071	0.0008	0.0008	0.0052	0.0045	9.623e-05	0	0.0004	0.0199	0	0	0	0.0004	0.0024	0.0071	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.014230	0.28595	N	0.165158	1	0.08975	N	-1.615	0.00410	N	4.12	0.02891	T	2.24	0.00310	N	0.096	0.07673	-0.9485	0.41228	T	0.002	0.00497	T	10	0.003635615	0.00066	T	0.003124	0.06786	T	0.145	0.38592	.	.	0.0806252709748	0.07271	0.09494722016934351	0.09426	0.0321017088889	0.03340	0.266911178827	0.05742	T	0.017716	0.14403	T	-0.361359	0.04054	T	-0.756843	0.03227	T	0.00402968774608686	0.00043	T	0.534247	0.17838	T	0.0753232	0.16962	0.035580516	0.02838	0.0753232	0.16962	0.035580516	0.02838	1.616	0.00074	T	.	.	0.056	0.00934	B	.;.;.;.	.;.;.;.	0.501855	0.08709	5.482	0.097634342334657662	0.00107	0.01689	0.05383	N	AEFBI	0.019848	0.00727	N	-1.36895505698783	0.02933	0.1302767	-1.12200487635002	0.07281	0.3535594	8.68142994786357E-5	0.04703	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.16	4.16	0.48138	0.003000	0.12984	.	.	-0.047000	0.17328	0.000000	0.06391	0.065000	0.22112	0.113000	0.18872	0.7407:0.0:0.0926:0.1667	4.905	0.13146	878	0.29785	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003171	0.000000	0.001359	0.000000	0.000000	0.025862	0.006098	0.007576	0.07143	949.53	47	chr11	6027424	.	T	A	949.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.188;DP=306;ExcessHet=0;FS=1.648;MLEAC=1;MLEAF=0.071;MQ=56.87;MQRankSum=-3.935;QD=9.59;ReadPosRankSum=1.49;SOR=0.535	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1162	6	0	1	0
chr11	6027496	6027496	A	G	exonic	OR56A1	.	nonsynonymous SNV	OR56A1:NM_001001917:exon1:c.T209C:p.L70P	.	417	1087	18	0	0	18	0.00821168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.494	0.0230371877252	.	.	0.0014	0.0002	8.649e-05	0	0	0.0011	0.0011	0.0053	0.0001153	3	26028	rs200051242	0.0009	0.0010	0.0007	0.0011	0.0057	0.0008	0.0008	0.0052	0.0051	0.0001	0.0002	0.0173	0	0	0.0019	0.0002	0.0019	0.0057	0.0008	0.0009	0.0005	0.0011	0.0056	0.0007	0.0006	0.0040	0.0034	0.0001	0	0.0003	0.0160	0	0	0	0.0004	0.0009	0.0056	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.986	0.76916	D	0.001695	0.38271	N	0.000000	0.999999	0.58761	D	3.495	0.92709	M	2.47	0.14783	T	-6.48	0.91522	D	0.834	0.82964	-0.4342	0.70925	T	0.196	0.55042	T	10	0.013698697	0.00290	T	0.023037	0.45977	T	0.494	0.77973	.	.	0.582324375139	0.57904	0.7405713789484896	0.74002	0.304299532992	0.32738	0.263798564672	0.05352	T	0.209621	0.56988	T	0.243686	0.78008	D	0.112262	0.77723	D	0.125351927149358	0.14946	T	0.674733	0.28305	T	0.96529716	0.97808	0.96236706	0.99097	0.96529716	0.97808	0.96236706	0.99097	-10.595	0.77391	D	.	.	0.689	0.72515	P	.;.;.;.	.;.;.;.	4.474829	0.69757	25.4	0.99887720744948061	0.96281	0.99638	0.98230	D	AEFBI	0.930073	0.91681	D	0.92284737674452	0.92833	11.65658	0.781124662797348	0.88452	9.587164	0.956221214386942	0.28235	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.04	4.04	0.46262	9.112000	0.93630	.	.	0.752000	0.88150	0.994000	0.38300	1.000000	0.68203	0.977000	0.56843	1.0:0.0:0.0:0.0	12.231	0.53803	878	0.29785	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.000000	0.001359	0.000000	0.000000	0.025862	0.006098	0.007576	0.07143	594.53	47	chr11	6027496	.	A	G	594.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.065;DP=259;ExcessHet=0;FS=21.711;MLEAC=1;MLEAF=0.071;MQ=51.35;MQRankSum=-5.156;QD=10.81;ReadPosRankSum=-0.664;SOR=3.497	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1162:.	6	0	1	0
chr11	6027514	6027514	T	A	exonic	OR56A1	.	nonsynonymous SNV	OR56A1:NM_001001917:exon1:c.A191T:p.Q64L	.	420	1085	17	0	0	17	0.00777321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00289780256829	.	.	0.0013	0.0002	8.658e-05	0	0	0.0011	0.0011	0.0050	0.0001153	3	26028	rs201319935	0.0008	0.0010	0.0006	0.0010	0.0054	0.0008	0.0008	0.0050	0.0048	0.0001	0.0002	0.0162	0	0	0.0019	0.0002	0.0018	0.0054	0.0007	0.0009	0.0005	0.0009	0.0046	0.0006	0.0005	0.0031	0.0026	9.628e-05	0	0.0001	0.0143	0	0	0	0.0003	0.0009	0.0046	0.001	0.78490	D	0.002	0.79402	D	0.136	0.27347	B	0.056	0.26147	B	0.119085	0.19088	N	0.371166	0.885429	0.27976	N	1.43	0.35840	L	7.73	0.00343	T	-5.32	0.84525	D	0.184	0.19995	-1.0802	0.07310	T	0.002	0.00526	T	10	0.012434185	0.00267	T	0.002898	0.06133	T	0.090	0.26093	.	.	0.307648195649	0.30373	0.10012211327099994	0.09943	0.0345273885609	0.03626	0.188319355249	0.00197	T	0.176005	0.52579	T	-0.213506	0.18887	T	-0.544463	0.17861	T	0.0657932999576962	0.08048	T	0.20118	0.02294	T	0.40179905	0.60857	0.5315363	0.72931	0.40179905	0.60858	0.5315363	0.72931	-8.748	0.66060	D	.	.	0.231	0.47546	B	.;.;.;.	.;.;.;.	2.456997	0.31646	18.80	0.99019144352732824	0.50548	0.67622	0.33500	D	AEFBI	0.324152	0.42613	N	-0.234089625880273	0.31744	1.783021	-0.261823760540326	0.29366	1.644716	0.0149054490652373	0.12652	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.27	4.27	0.50009	0.107000	0.15212	.	.	0.661000	0.55757	0.000000	0.06391	0.000000	0.08366	0.768000	0.36443	0.0:0.0:0.176:0.824	9.581	0.38653	878	0.29785	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.025862	0.006098	0.007576	0.07143	460.44	47	chr11	6027514	.	T	A	460.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.85;DP=260;ExcessHet=0;FS=23.95;MLEAC=1;MLEAF=0.071;MQ=52.24;MQRankSum=-4.909;QD=9.03;ReadPosRankSum=-0.232;SOR=3.91	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1162:.	6	0	1	0
chr11	6199415	6199415	G	A	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.G192A:p.M64I	.	430	1091	0	1	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0248721032643	.	.	.	.	.	.	.	.	.	.	.	.	.	rs914406782	2.052e-06	2.052e-06	2.722e-06	1.375e-06	0.0002	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.983	0.60381	D	0.844	0.60373	P	0.000757	0.42006	U	0.000000	0.999713	0.48481	D	4.09	0.97262	H	2.99	0.09262	T	-3.7	0.70553	D	0.31	0.34981	-0.5599	0.66407	T	0.149	0.47646	T	10	0.44293082	0.58216	T	0.024872	0.47855	T	0.324	0.64624	0.428	0.47515	0.494232246516	0.49056	0.356448712412409	0.35558	0.12998121625	0.14663	0.399880170822	0.25052	T	0.013867	0.11911	T	0.155349	0.69768	D	0.000857593	0.70392	D	0.996788620948792	0.90073	D	0.873813	0.58316	D	0.9341356	0.94652	0.9581193	0.98869	0.9341356	0.94653	0.9581193	0.98870	-9.248	0.69280	D	.	.	0.625	0.69910	P	.	.	4.096327	0.61046	24.3	0.99758081921972652	0.84851	0.96921	0.71669	D	AEFBI	0.682952	0.64579	D	0.919542398061227	0.92685	11.56699	0.839143838299695	0.92365	11.385	0.999999999582835	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.92	5.92	0.95557	4.831000	0.62441	6.390000	0.55557	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0:0.0:1.0:0.0	19.309	0.94167	674	0.60593	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1842.45	40	chr11	6199415	.	G	A	1842.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.011;DP=399;ExcessHet=0;FS=3.983;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=1.75;SOR=1.027	GT:AD:DP:GQ:PL	0/1:77,64:141:99:1853,0,2208	6	0	1	0
chr11	6214536	6214536	G	A	exonic	FAM160A2	.	nonsynonymous SNV	FAM160A2:NM_001098794:exon11:c.C2432T:p.A811V,FAM160A2:NM_032127:exon11:c.C2474T:p.A825V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0449158250514	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1467164737	6.158e-06	9.577e-06	5.447e-06	6.877e-06	2.988e-05	2.9e-06	2.1e-06	2.62e-06	1.68e-06	2.988e-05	0	0	0	0	0	6.296e-06	0	1.16e-05	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.348	0.25664	T	0.165	0.30926	T	1.0	0.90584	D	0.991	0.84481	D	0.000000	0.84330	D	0.000000	0.99813	0.44547	D	1.89	0.50145	L	2.81	0.11189	T	-1.5	0.36586	N	0.649	0.66016	-1.1590	0.00781	T	0.069	0.28247	T	10	0.5232914	0.62765	D	0.044916	0.61725	D	0.221	0.51721	0.191	0.10171	0.228066490088	0.22430	0.5454720935081884	0.54473	1.07642500469	0.76987	0.72725301981	0.71105	T	0.023495	0.17926	T	0.00470156	0.52303	T	-0.231023	0.51673	T	0.816160261631012	0.47489	D	0.90061	0.65471	D	0.20185435	0.42211	0.2133388	0.45840	0.20185435	0.42211	0.2133388	0.45839	-9.272	0.69595	D	.	.	0.763	0.78061	P	.;.	.;.	5.451530	0.91058	32	0.99918932389719883	0.98586	0.99420	0.95802	D	AEFDBI	0.869631	0.79025	D	0.699734434709294	0.79613	7.11512	0.703075820650026	0.82611	7.810395	0.999999999985765	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	9.466000	0.96830	11.905000	0.99459	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.696	0.88187	617	0.66297	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	111.4	38	chr11	6214536	.	G	A	111.4	.	AC=2;AF=0.143;AN=14;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=27.85;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1166	6	1	0	0
chr11	6217614	6217614	C	T	exonic	FAM160A2	.	nonsynonymous SNV	FAM160A2:NM_001098794:exon9:c.G1972A:p.G658R,FAM160A2:NM_032127:exon9:c.G2014A:p.G672R	.	403	1113	6	0	0	6	0.00268817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0110	0.0107827	0.0048	0.0314	0.0039	0	0.0003	0.0023	0.0011	0.0035	0.0046442	718	154602	rs145525932	0.0030	0.0030	0.0029	0.0030	0.0286	0.0029	0.0029	0.0271	0.0265	0.0286	0.0047	0.0226	0	0.0001	0.0059	0.0017	0.0052	0.0036	0.0096	0.0096	0.0101	0.0091	0.0259	0.0092	0.0091	0.0246	0.0241	0.0259	0	0.0109	0.0205	0.0002	0	0.0204	0.0015	0.0114	0.0033	0.427	0.14017	T	0.419	0.22154	T	0.001	0.12183	B	0.003	0.12133	B	0.101156	0.19852	N	0.582283	0.987563	0.24503	N	0.895	0.22405	L	0.99	0.41750	T	0.18	0.05035	N	0.212	0.23632	-1.0716	0.09065	T	0.021	0.08824	T	10	0.002270937	0.00033	T	.	.	.	0.030	0.07022	0.252	0.19067	0.043077524339	0.03247	0.5372884772549195	0.53653	0.389766893602	0.40207	0.396810948849	0.24625	T	0.008058	0.07418	T	-0.547386	0.00303	T	-0.536746	0.18617	T	0.00323705324857445	0.00034	T	0.80432	0.45191	T	0.023622314	0.01118	0.03919939	0.03959	0.023622314	0.01118	0.03919939	0.03959	-4.315	0.29339	T	.	.	0.071	0.14062	B	.;.;.	.;.;.	2.421550	0.31137	18.65	0.65124965433729498	0.07684	0.73340	0.35876	D	AEFDBI	0.183139	0.31047	N	-0.284993110122023	0.29726	1.651114	-0.138785552236324	0.33843	1.940219	0.894223574144983	0.25924	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.11	3.23	0.36150	2.105000	0.41449	4.023000	0.41268	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.8242:0.0:0.1758	8.250	0.30868	600	0.68026	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.025253	0.004076	0.008772	0.000000	0.000000	0.015244	0.000000	0.07143	2431.44	35	chr11	6217614	.	C	T	2431.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.229;DP=394;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.182;SOR=0.708	GT:AD:DP:GQ:PL	0/1:100,103:203:99:2442,0,2309	6	0	1	0
chr11	6217709	6217709	C	T	exonic	FAM160A2	.	nonsynonymous SNV	FAM160A2:NM_001098794:exon9:c.G1877A:p.G626D,FAM160A2:NM_032127:exon9:c.G1919A:p.G640D	.	0	225	0	1	0	2	0.00442478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.0218417202056	.	.	1.778e-05	0.0001	0	0	0	0	0	6.444e-05	1.29e-05	2	154602	rs781556644	1.713e-05	1.847e-05	1.772e-05	1.653e-05	0.0035	1.176e-05	9.94e-06	0.0023	0.0019	8.973e-05	0	0	0	0	0.0035	0	1.658e-05	1.162e-05	6.573e-06	6.562e-06	1.286e-05	0	2.409e-05	0	0	.	.	2.409e-05	0	0	0	0	0	0	0	0	0	0.286	0.28900	T	0.612	0.07791	T	0.0	0.07471	B	0.0	0.06944	B	0.783862	0.09450	N	0.918964	0.996667	0.22942	N	0.695	0.17993	N	0.91	0.44856	T	0.23	0.06612	N	0.22	0.25499	-1.0086	0.27354	T	0.066	0.27121	T	10	0.060829937	0.07532	T	0.021842	0.44662	T	0.079	0.23065	0.128	0.03331	0.276254252017	0.27237	0.40591355211082003	0.40507	0.426506705413	0.43025	0.405392259359	0.25818	T	0.008662	0.09967	T	-0.346708	0.04937	T	-0.451085	0.27578	T	0.0207600221037865	0.00776	T	0.691431	0.30091	T	0.04103429	0.05968	0.05630023	0.10035	0.04103429	0.05967	0.05630023	0.10034	-4.915	0.35903	T	.	.	0.071	0.11989	B	.;.;.	.;.;.	1.878915	0.23864	16.18	0.44452581502719479	0.03419	0.74928	0.36667	D	AEFDBI	0.142500	0.26495	N	-0.59563794027626	0.19076	0.9955872	-0.46577930385668	0.23102	1.258187	0.844925267073573	0.24935	0.67177	0.52595	0	0.702456	0.74545	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.31	3.41	0.38145	2.713000	0.46862	3.707000	0.39544	0.599000	0.40250	0.850000	0.30445	1.000000	0.68203	0.323000	0.25040	0.0:0.7544:0.1608:0.0847	8.341	0.31403	600	0.68026	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.010101	0.002717	0.005848	0.000000	0.008621	0.000000	0.000000	0.07143	65.44	35	chr11	6217709	.	C	T	65.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.645;DP=302;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.524;SOR=0.223	GT:AD:DP:GQ:PL	0/0:116,0:116:99:0,120,1800	6	0	1	0
chr11	6270208	6270208	T	C	exonic	CCKBR	.	nonsynonymous SNV	CCKBR:NM_001318029:exon2:c.T272C:p.I91T,CCKBR:NM_001363552:exon3:c.T524C:p.I175T,CCKBR:NM_176875:exon3:c.T524C:p.I175T	.	417	1104	0	1	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.897	0.232050179658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.039	0.92824	D	0.989	0.77913	D	0.966	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.955	0.85029	M	-1.0	0.76037	T	-4.31	0.79571	D	0.958	0.97643	0.461	0.89992	D	0.636	0.87273	D	10	0.95023084	0.94357	D	0.23205	0.88303	D	0.897	0.97097	0.75	0.88071	0.985180550503	0.98502	0.8752957364078582	0.87496	1.23549493298	0.81448	0.81583404541	0.84389	D	0.559027	0.85205	D	0.396287	0.89697	D	0.331462	0.89570	D	0.99768054485321	0.92162	D	0.927207	0.73352	D	0.71216786	0.78726	0.7320166	0.84164	0.71216786	0.78728	0.7320166	0.84165	-9.88	0.73190	D	.	.	0.729	0.82181	P	.;.;.	.;.;.	4.421730	0.68494	25.2	0.99678932364864903	0.79108	0.94946	0.62882	D	AEFDGBHCI	0.906059	0.85835	D	0.771947463522412	0.84325	8.256288	0.664525795124147	0.79698	7.137329	0.999999999998944	0.74766	0.77792	0.99625	0	0.615948	0.52940	0	0.854111	0.99894	0	0.584449	0.35598	0	.	.	4.81	4.81	0.61401	7.491000	0.80296	7.930000	0.74972	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.130000	0.19568	0.0:0.0:0.0:1.0	13.313	0.59828	595	0.68488	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1796.63	34	chr11	6270208	.	T	C	1796.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.405;DP=342;ExcessHet=0;FS=2.815;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.687;SOR=0.968	GT:AD:DP:GQ:PL	0/1:78,80:158:99:1807,0,1954	6	0	1	0
chr11	6390705	6390711	TGCTGGC	0	exonic	SMPD1	.	.	.	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	10434.5	35	chr11	6390705	.	TGCTGGC	*	10434.5	.	AC=3;AF=0.214;AN=14;DP=433;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=32.31;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:58:99:.:.:1786,1895,2316:.	5	1	1	0
chr11	6391414	6391414	G	A	exonic	SMPD1	.	nonsynonymous SNV	SMPD1:NM_000543:exon2:c.G349A:p.V117M,SMPD1:NM_001007593:exon2:c.G346A:p.V116M,SMPD1:NM_001318087:exon2:c.G349A:p.V117M,SMPD1:NM_001365135:exon2:c.G349A:p.V117M	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	321148	not_provided|Niemann-Pick_disease,_type_A|SMPD1-related_disorder|Niemann-Pick_disease,_type_B	MedGen:C3661900|MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292|.|MONDO:MONDO:0011871,MedGen:C0268243,OMIM:607616,Orphanet:77293	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.163	0.0597921256022	7.7e-05	0.000199681	0.0003	0	0	0.0030	0	7.524e-05	0	0	0.0002135	33	154602	rs202206564	6.435e-05	6.498e-05	7.629e-05	5.229e-05	0.0016	5.365e-05	4.98e-05	0.0013	0.0011	2.991e-05	2.236e-05	0	0.0016	0	0	2.338e-05	6.636e-05	0	0.0001	0.0001	8.993e-05	0.0001	0.0031	7.086e-05	5.743e-05	0.0019	0.0016	2.405e-05	0	0	0	0.0031	0	0	0	0	0	0.59	0.14843	T	0.331	0.19908	T	.	.	.	.	.	.	0.328735	0.14150	N	0.678397	0.999998	0.08975	N	.	.	.	-3.68	0.95282	D	-0.16	0.09460	N	0.099	0.08088	-0.5519	0.66715	T	0.594	0.85504	D	10	0.0060907006	0.00137	T	0.059792	0.67784	D	0.163	0.42028	.	.	0.624981205754	0.62193	0.7180093980700115	0.71743	0.220064939331	0.24547	0.268054097891	0.05889	T	.	.	.	-0.435427	0.01376	T	-0.395626	0.33893	T	0.0269964577788827	0.01543	T	0.612239	0.23293	T	0.08992718	0.21027	0.1301431	0.31277	0.088014305	0.20517	0.13309537	0.31922	-4.875	0.37674	T	0.2361679804967652	0.31980	0.072	0.12323	B	.;.	.;.	-0.596172	0.01582	0.106	0.86304210873781795	0.16447	0.03195	0.08186	N	AEFDGBCI	0.086795	0.17599	N	-1.87437158353168	0.00387	0.01665497	-1.94512526157792	0.00398	0.01757554	0.999999971562878	0.74766	0.764865	0.99124	0	0.662677	0.63036	0	0.731555	0.93304	0	0.651492	0.60203	0	.	.	5.11	-6.62	0.01646	-1.239000	0.03026	-1.364000	0.05615	-1.571000	0.00933	0.000000	0.06391	0.000000	0.08366	0.299000	0.24476	0.0937:0.185:0.7213:0.0	15.229	0.73061	804	0.43891	Saposin B type domain|Saposin B type domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2455.44	34	chr11	6391414	.	G	A	2455.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.28;DP=377;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.755;SOR=0.713	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr11	6564079	6564079	G	T	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon31:c.G10239T:p.K3413N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0382555557882	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.17940	T	0.0	0.92824	D	0.922	0.51142	P	0.583	0.50264	P	.	.	.	.	0.968056	0.25819	N	2.015	0.55033	M	-0.82	0.74053	T	-1.07	0.27876	N	0.325	0.41162	-0.7361	0.58653	T	0.305	0.67547	T	9	0.36650217	0.53143	T	0.038256	0.58114	D	0.246	0.55340	0.518	0.61915	0.707650254962	0.70510	0.38322022310563103	0.38237	0.532401565123	0.50703	0.379581391811	0.22198	T	0.064	0.32320	T	-0.0803725	0.39654	T	-0.353226	0.38835	T	0.575473140834996	0.35444	D	0.510949	0.16331	T	0.27499932	0.50564	0.25137228	0.50747	0.27499932	0.50564	0.25137228	0.50746	-4.843	0.35088	T	.	.	0.412	0.60243	A	.;.	.;.	2.351542	0.30146	18.35	0.98962345709910715	0.49364	0.86148	0.45374	D	AEFDBI	0.133163	0.25273	N	0.0924144595753655	0.46109	2.856479	0.0938492095698804	0.44239	2.709482	0.999997307219467	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.27	4.27	0.50009	2.194000	0.42301	0.078000	0.14353	0.618000	0.50648	0.991000	0.37257	0.003000	0.18671	0.944000	0.48669	0.0:0.0:1.0:0.0	12.045	0.52771	425	0.81160	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	56.5	47	chr11	6564079	.	G	T	56.5	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.768;DP=415;ExcessHet=0;FS=253.817;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=0.559;SOR=8.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:59,9:82:91:.:.:0,91,979:.	5	0	1	1
chr11	6571721	6571721	T	C	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon43:c.T13997C:p.I4666T	.	426	1064	32	0	0	32	0.0148148	.	.	.	612918	DNHD1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.021	0.00242048950287	0.0059	0.00199681	0.0061	0.0018	0.0051	0	0.0017	0.0091	0.0054	0.0019	0.005181	801	154602	rs11604362	0.0062	0.0062	0.0062	0.0062	0.0253	0.0061	0.0061	0.0220	0.0207	0.0016	0.0058	0.0083	0	0.0016	0.0253	0.0070	0.0066	0.0016	0.0046	0.0046	0.0052	0.0040	0.0068	0.0043	0.0042	0.0063	0.0061	0.0016	0.0340	0.0050	0.0072	0	0.0007	0.0308	0.0068	0.0086	0.0010	0.328	0.13219	T	0.217	0.26145	T	0.0	0.02946	B	0.001	0.04355	B	0.286257	0.03865	N	1.500610	1	0.08975	N	1.04	0.26193	L	3.19	0.07353	T	0.85	0.01736	N	0.108	0.09914	-0.9586	0.39442	T	0.005	0.01578	T	10	0.0035536885	0.00064	T	0.00242	0.04757	T	0.021	0.04004	.	.	0.0401082797425	0.02173	0.2379967463452294	0.23713	0.148820726089	0.16780	0.2791274786	0.07370	T	0.004595	0.03998	T	-0.689082	0.00042	T	-0.757749	0.03194	T	6.56141346553341e-05	0.00001	T	0.382862	0.09330	T	0.025150282	0.01421	0.037576307	0.03441	0.025150282	0.01421	0.037576307	0.03440	-1.741	0.02339	T	.	.	0.092	0.13644	B	.;.	.;.	-0.464050	0.01986	0.174	0.63889802075881286	0.07344	0.02995	0.07855	N	AEFDGBHCI	0.017310	0.00445	N	-1.45185825977806	0.02202	0.09697423	-1.37140251439273	0.03560	0.166304	0.999925422565124	0.46280	0.67177	0.52595	0	0.702456	0.74545	0	0.505578	0.09266	0	0.664235	0.64389	0	.	.	4.75	-0.827	0.10256	-0.708000	0.05138	-0.500000	0.08808	-0.137000	0.12594	0.000000	0.06391	0.000000	0.08366	0.061000	0.16044	0.3386:0.1861:0.0:0.4753	3.778	0.08189	425	0.81160	Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.023666	0.015152	0.020380	0.064327	0.050000	0.017241	0.009146	0.003788	0.08333	595.23	44	chr11	6571721	.	T	C	595.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.593;DP=219;ExcessHet=0;FS=4.288;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-0.482;SOR=0.288	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1223	5	0	1	1
chr11	6623077	6623077	C	T	exonic	DCHS1	.	nonsynonymous SNV	DCHS1:NM_003737:exon21:c.G8599A:p.A2867T	Mitral valve prolapse 2, Autosomal dominant;Van Maldergem syndrome 1, Autosomal recessive	428	1076	18	0	0	18	0.00829493	.	.	.	1196080	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.052	.	0.0057	0.00379393	0.0100	0.0028	0.0067	0	0.0016	0.0160	0.0061	0.0039	0.0046507	719	154602	rs146233988	0.0065	0.0065	0.0066	0.0065	0.0113	0.0064	0.0064	0.0091	0.0083	0.0011	0.0046	0.0212	2.593e-05	0.0008	0.0113	0.0071	0.0078	0.0030	0.0053	0.0053	0.0054	0.0051	0.0079	0.0050	0.0049	0.0070	0.0068	0.0013	0	0.0079	0.0210	0	0.0006	0.0034	0.0076	0.0080	0.0041	0.21	0.19639	T	0.56	0.09113	T	0.001	0.07471	B	0.002	0.06944	B	0.001414	0.39109	N	0.000000	0.990491	0.24163	N	0.175	0.09039	N	0.23	0.59717	T	-1.3	0.32590	N	0.308	0.34767	-1.0651	0.10526	T	0.062	0.25672	T	10	0.011419386	0.00250	T	.	.	.	0.052	0.14661	.	.	0.272557281605	0.26857	0.3646127875677745	0.36375	0.183227035329	0.20612	0.364038228989	0.19972	T	0.089174	0.38315	T	-0.449616	0.01135	T	-0.412645	0.31922	T	0.00922406063220715	0.00117	T	0.712529	0.32403	T	0.047270615	0.08051	0.07459197	0.16333	0.047270615	0.08051	0.07459197	0.16332	-5.334	0.40278	T	.	.	0.071	0.04002	B	.	.	2.289612	0.29282	18.07	0.98327669376725069	0.40309	0.14302	0.18331	N	AEFDBI	.	.	.	-0.467978113883131	0.23135	1.240253	-0.287298167383484	0.28516	1.590583	0.999981505549986	0.51787	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	1.372000	0.33866	4.064000	0.41610	0.599000	0.40250	0.011000	0.18532	1.000000	0.68203	0.993000	0.69303	0.0:0.826:0.0:0.174	7.380	0.26025	539	0.73055	Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010585	0.020408	0.019022	0.008772	0.050000	0.008621	0.003049	0.000000	0.07143	850.83	33	chr11	6623077	.	C	T	850.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.656;DP=264;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=0.403;SOR=0.622	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1423	6	0	1	0
chr11	6795587	6795587	G	T	exonic	OR6A2	.	nonsynonymous SNV	OR6A2:NM_003696:exon1:c.C122A:p.T41N	.	422	1097	2	1	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00808437412965	0.0009	.	0.0010	0.0003	0.0002	0	0.0002	0.0017	0.0022	0.0001	0.0010284	159	154602	rs142218013	0.0015	0.0015	0.0015	0.0015	0.0017	0.0015	0.0014	0.0016	0.0016	0.0004	0.0003	0.0071	0	0.0002	0.0012	0.0017	0.0014	0.0001	0.0011	0.0011	0.0012	0.0010	0.0018	0.0010	0.0009	0.0015	0.0014	0.0002	0	0.0006	0.0089	0	0.0002	0	0.0018	0	0	0.008	0.58626	D	0.061	0.45530	T	0.949	0.53761	P	0.443	0.45803	B	0.012800	0.29054	N	0.237413	1	0.08975	N	1.715	0.44382	L	7.31	0.00421	T	-2.06	0.47175	N	0.32	0.36043	-0.7995	0.55173	T	0.001	0.00408	T	10	0.011798024	0.00256	T	0.008084	0.21418	T	0.067	0.19503	.	.	0.177238962908	0.17366	0.26631276117971825	0.26544	0.00846068703756	0.00769	0.341105729342	0.16603	T	0.083859	0.37150	T	-0.582988	0.00185	T	-0.614814	0.11598	T	0.0108142713473512	0.00153	T	0.727427	0.34191	T	0.5998655	0.72684	0.67280483	0.80796	0.5998655	0.72686	0.67280483	0.80797	-9.712	0.72170	D	.	.	0.331	0.55617	B	.;.	.;.	2.725231	0.35659	19.96	0.95917807073870121	0.28178	0.22954	0.21918	N	AEFI	0.109436	0.21737	N	-0.417164109668007	0.24867	1.345794	-0.534820929010588	0.21209	1.146316	3.5965086456033E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.95	3.08	0.34576	1.105000	0.30699	-0.469000	0.08990	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.1706:0.0:0.8294:0.0	9.705	0.39375	539	0.73055	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	1303.44	37	chr11	6795587	.	G	T	1303.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.101;DP=360;ExcessHet=0;FS=1.589;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.452;SOR=0.889	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	6	0	1	0
chr11	6892118	6892118	T	C	exonic	OR2D2	.	nonsynonymous SNV	OR2D2:NM_003700:exon1:c.A383G:p.N128S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00162388941275	.	0.000998403	0.0004	0	0	0.0057	0	0	0	0	0.0003558	55	154602	rs202241668	0.0002	0.0002	0.0002	0.0002	0.0070	0.0002	0.0002	0.0063	0.0060	0	0	0	0.0070	0	0	4.497e-06	0.0001	1.159e-05	0.0002	0.0002	0.0001	0.0002	0.0051	0.0001	0.0001	0.0035	0.0030	2.41e-05	0	0	0	0.0051	0	0	0	0	0	0.064	0.36509	T	0.198	0.27767	T	0.002	0.09854	B	0.003	0.08700	B	0.051562	0.22970	N	0.371511	1	0.08975	N	1.7	0.43825	L	8.05	0.00310	T	-1.12	0.28906	N	0.062	0.03392	-0.9485	0.41228	T	0.000	0.00152	T	10	0.012591302	0.00270	T	0.001624	0.02625	T	0.037	0.09474	.	.	0.468917363747	0.46519	0.10801520201019646	0.10730	0.0140390453475	0.01334	0.202818870544	0.00543	T	0.003441	0.02849	T	-0.677718	0.00049	T	-0.743521	0.03743	T	0.0253410849692384	0.01318	T	0.347765	0.07665	T	0.058911823	0.11908	0.06495956	0.13095	0.058911823	0.11907	0.06495956	0.13095	-4.951	0.36303	T	.	.	0.088	0.11654	B	.	.	0.783403	0.11534	8.133	0.91780050577874661	0.21084	0.28800	0.23652	N	AEFBI	0.096831	0.19541	N	-0.821022765969884	0.12774	0.6248286	-0.770218922462558	0.15226	0.7997365	3.50053655795772E-4	0.06626	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.23	2.78	0.31702	1.779000	0.38254	0.543000	0.19351	-0.306000	0.06133	0.233000	0.24675	0.000000	0.08366	0.779000	0.36868	0.0:0.1836:0.0:0.8164	7.990	0.29398	502	0.75873	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2550.44	39	chr11	6892118	.	T	C	2550.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.14;DP=395;ExcessHet=0;FS=0.548;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=0.228;SOR=0.778	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	6	0	1	0
chr11	7043149	7043149	G	A	exonic	NLRP14	.	nonsynonymous SNV	NLRP14:NM_176822:exon4:c.G1123A:p.A375T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0153242057997	.	.	0.0001	0	0	0	0	0	0	0.0008	9.06e-05	14	154602	rs368562565	4.72e-05	4.788e-05	2.723e-05	6.738e-05	0.0005	3.794e-05	3.476e-05	0.0003	0.0003	0.0002	0	0	0	0	0	8.993e-06	0.0002	0.0005	5.258e-05	5.254e-05	2.57e-05	8.073e-05	0.0002	2.558e-05	1.831e-05	4.74e-05	3.054e-05	0.0001	0	0	0	0	0	0	0	0.0010	0.0002	0.227	0.18498	T	0.253	0.23501	T	0.0	0.02946	B	0.0	0.01387	B	0.724449	0.09907	N	0.861567	1	0.08975	N	0.2	0.09183	N	-1.74	0.83413	D	-0.19	0.09965	N	0.064	0.03613	-0.9109	0.46744	T	0.215	0.57599	T	10	0.23978949	0.41126	T	0.015324	0.35983	T	0.246	0.55340	0.892	0.97414	0.12205267543	0.11705	0.062151928497043346	0.06155	0.0177436046835	0.01731	0.261193752289	0.05034	T	0.020138	0.15912	T	-0.378549	0.03182	T	-0.438805	0.28941	T	0.933199644088745	0.59977	D	0.149285	0.01243	T	0.025960624	0.01593	0.050322816	0.07875	0.025960624	0.01593	0.050322816	0.07875	-5.412	0.41035	T	.	.	0.078	0.06990	B	.	.	-0.823529	0.01061	0.046	0.61636307334665441	0.06759	0.00359	0.01841	N	AEFBI	0.019676	0.00706	N	-2.23064568329539	0.00065	0.002800756	-2.29679848359645	0.00067	0.002964526	0.733327159431107	0.23087	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	4.69	-8.59	0.00776	-1.704000	0.01999	-7.649000	0.01113	-2.552000	0.00247	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.2925:0.1043:0.5012:0.102	6.434	0.21017	687	0.59234	NACHT nucleoside triphosphatase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	923.44	34	chr11	7043149	.	G	A	923.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.28;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=1.16;SOR=0.725	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr11	7648505	7648505	T	A	exonic	PPFIBP2	.	nonsynonymous SNV	PPFIBP2:NM_001256569:exon14:c.T1336A:p.L446I,PPFIBP2:NM_001256568:exon15:c.T1429A:p.L477I,PPFIBP2:NM_001351858:exon16:c.T1534A:p.L512I,PPFIBP2:NM_001351860:exon16:c.T1558A:p.L520I,PPFIBP2:NM_001351861:exon16:c.T1534A:p.L512I,PPFIBP2:NM_001351857:exon17:c.T1567A:p.L523I,PPFIBP2:NM_001351859:exon17:c.T1567A:p.L523I,PPFIBP2:NM_001351854:exon18:c.T1765A:p.L589I,PPFIBP2:NM_001351856:exon18:c.T1771A:p.L591I,PPFIBP2:NM_003621:exon18:c.T1765A:p.L589I,PPFIBP2:NM_001351853:exon19:c.T1798A:p.L600I,PPFIBP2:NM_001351855:exon19:c.T1798A:p.L600I,PPFIBP2:NM_001351862:exon19:c.T1765A:p.L589I	.	430	1058	34	0	0	34	0.015814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	.	0.0016	0.0061901	0.0050	0.0008	0.0048	0.0002	0.0005	0.0024	0.0077	0.0228	0.0045019	696	154602	rs149157151	0.0039	0.0039	0.0032	0.0045	0.0245	0.0038	0.0037	0.0237	0.0233	0.0004	0.0035	0.0001	5.038e-05	0.0004	0.0052	0.0027	0.0043	0.0245	0.0026	0.0026	0.0021	0.0031	0.0262	0.0024	0.0023	0.0225	0.0211	0.0004	0	0.0037	0	0	0.0005	0	0.0026	0.0038	0.0262	0.0	0.91255	D	0.063	0.92824	T	0.985	0.61118	D	0.987	0.77487	D	0.000023	0.55875	D	0.000000	0.788904	0.34361	D	2.79	0.81396	M	0.61	0.53516	T	-1.85	0.43334	N	0.769	0.79118	-0.4659	0.69868	T	0.212	0.57307	T	10	0.0106392205	0.00236	T	.	.	.	0.262	0.57482	.	.	0.574091456918	0.57077	0.49773145617975584	0.49694	0.231808938952	0.25732	0.570495069027	0.48747	T	0.120955	0.44357	T	-0.29851	0.08801	T	-0.183312	0.56215	T	0.0556828833515985	0.06471	T	0.889011	0.61998	D	0.3305879	0.55519	0.30209062	0.56241	0.3305879	0.55519	0.30209062	0.56240	-11.804	0.83883	D	.	.	0.282	0.51497	B	.;.;.;.	.;.;.;.	3.173236	0.43041	21.7	0.99424277596642729	0.63935	0.72408	0.35442	D	AEDBI	0.298969	0.40814	N	0.323836889841474	0.57374	3.904504	0.225831262289025	0.51286	3.312396	0.504164713094992	0.20967	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.87	0.919	0.18518	1.289000	0.32913	1.482000	0.26828	0.665000	0.62972	0.690000	0.28531	0.951000	0.29025	0.847000	0.40026	0.0:0.3758:0.0:0.6242	8.367	0.31555	770	0.49152	Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-beta, SAM domain repeat 1;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-beta, SAM domain repeat 1;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007560	0.000000	0.002717	0.008772	0.000000	0.008621	0.003049	0.034351	0.07143	407.63	34	chr11	7648505	.	T	A	407.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.407;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=1.44;SOR=0.569	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1181	6	0	1	0
chr11	7649620	7649620	-	C	exonic	PPFIBP2	.	frameshift insertion	PPFIBP2:NM_001256569:exon17:c.1659dupC:p.H555Pfs*9,PPFIBP2:NM_001256568:exon18:c.1752dupC:p.H586Pfs*9,PPFIBP2:NM_001351858:exon19:c.1857dupC:p.H621Pfs*9,PPFIBP2:NM_001351860:exon19:c.1881dupC:p.H629Pfs*9,PPFIBP2:NM_001351861:exon19:c.1857dupC:p.H621Pfs*9,PPFIBP2:NM_001351857:exon20:c.1890dupC:p.H632Pfs*9,PPFIBP2:NM_001351859:exon20:c.1890dupC:p.H632Pfs*9,PPFIBP2:NM_001351854:exon21:c.2088dupC:p.H698Pfs*9,PPFIBP2:NM_001351856:exon21:c.2094dupC:p.H700Pfs*9,PPFIBP2:NM_003621:exon21:c.2088dupC:p.H698Pfs*9,PPFIBP2:NM_001351853:exon22:c.2121dupC:p.H709Pfs*9,PPFIBP2:NM_001351855:exon22:c.2121dupC:p.H709Pfs*9,PPFIBP2:NM_001351862:exon22:c.2088dupC:p.H698Pfs*9	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1205598601	6.84e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	6.577e-06	6.568e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3205.41	59	chr11	7649620	.	A	AC	3205.41	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.047;DP=553;ExcessHet=0;FS=0.487;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=-0.221;SOR=0.74	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1304	6	0	1	0
chr11	7651662	7651662	G	C	exonic	PPFIBP2	.	nonsynonymous SNV	PPFIBP2:NM_001256569:exon19:c.G1825C:p.E609Q,PPFIBP2:NM_001256568:exon20:c.G1918C:p.E640Q,PPFIBP2:NM_001351858:exon21:c.G2023C:p.E675Q,PPFIBP2:NM_001351860:exon21:c.G2047C:p.E683Q,PPFIBP2:NM_001351861:exon21:c.G2023C:p.E675Q,PPFIBP2:NM_001351857:exon22:c.G2056C:p.E686Q,PPFIBP2:NM_001351859:exon22:c.G2056C:p.E686Q,PPFIBP2:NM_001351854:exon23:c.G2254C:p.E752Q,PPFIBP2:NM_001351856:exon23:c.G2260C:p.E754Q,PPFIBP2:NM_003621:exon23:c.G2254C:p.E752Q,PPFIBP2:NM_001351853:exon24:c.G2287C:p.E763Q,PPFIBP2:NM_001351855:exon24:c.G2287C:p.E763Q,PPFIBP2:NM_001351862:exon24:c.G2254C:p.E752Q	.	429	1092	1	0	0	1	0.000457666	.	.	.	2370952	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.484	0.0629551402401	7.7e-05	0.000199681	0.0002	0	0	0	0	0.0002	0.0011	0.0004	0.0001811	28	154602	rs143255201	0.0001	0.0001	0.0001	0.0001	0.0007	9.046e-05	8.526e-05	0.0002	0.0001	0	2.252e-05	0.0033	0	0	0.0007	3.17e-05	0.0002	0.0002	0.0001	0.0001	7.711e-05	0.0002	0.0006	8.663e-05	7.255e-05	0.0002	8.989e-05	0	0	0	0.0035	0	0	0	7.352e-05	0	0.0006	0.002	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.785	0.81254	M	0.98	0.42122	T	-2.82	0.59710	D	0.964	0.98065	-0.3160	0.74534	T	0.333	0.70068	T	10	0.22521698	0.39345	T	0.062955	0.68815	D	0.484	0.77335	.	.	0.819578996456	0.81787	0.8677161865813222	0.86736	0.225848792887	0.25137	0.824064135551	0.85651	D	0.501093	0.82143	D	0.0723504	0.61133	D	0.184223	0.82238	D	0.23103454458052	0.22001	T	0.997586	0.99036	D	0.62158	0.73848	0.4984594	0.71001	0.62158	0.73849	0.4984594	0.71001	-10.69	0.77930	D	.	.	0.791	0.76888	P	.;.;.;.	.;.;.;.	5.630383	0.92671	32	0.99865978488272988	0.94366	0.99068	0.90757	D	AEFDBCI	0.939903	0.94113	D	0.982591125704564	0.95185	13.38465	0.923329434466555	0.96511	14.78651	0.999999999999885	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.635551	0.53088	0	.	.	5.77	5.77	0.91077	10.003000	0.99689	11.875000	0.98678	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:1.0:0.0	17.836	0.88611	733	0.53988	Sterile alpha motif domain|Sterile alpha motif domain|Liprin-beta, SAM domain repeat 3;Sterile alpha motif domain|Sterile alpha motif domain|Liprin-beta, SAM domain repeat 3;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.1429	73.0	40	chr11	7651662	.	G	C	73.0	.	AC=2;AF=0.143;AN=14;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=24.33;SOR=1.179	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1161	6	1	0	0
chr11	7691973	7691973	A	G	exonic	OVCH2	.	nonsynonymous SNV	OVCH2:NM_198185:exon13:c.T1436C:p.I479T	.	.	.	.	.	.	.	.	.	.	.	3469902	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.118	0.00469459798419	0.0002	.	0.0001	0	0.0010	0	0	0.0001	0	0.0001	3.23e-05	5	154602	rs367874438	6.615e-05	6.704e-05	6.124e-05	7.116e-05	0.0001	5.515e-05	5.119e-05	6.644e-05	5.388e-05	0	0	0	0	0	0	7.158e-05	0.0001	0.0001	5.915e-05	5.911e-05	7.708e-05	4.036e-05	8.819e-05	3.078e-05	2.21e-05	3.762e-05	2.575e-05	7.238e-05	0	0	0	0	0	0	8.819e-05	0	0	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	0.023021	0.26524	N	0.268702	0.999442	0.21182	N	.	.	.	.	.	.	.	.	.	0.3	0.33904	-1.0704	0.09326	T	0.039	0.16978	T	10	0.08452457	0.14175	T	0.004695	0.11660	T	.	.	.	.	0.226586394389	0.22295	0.5168185919321072	0.51604	.	.	0.471952199936	0.34948	T	0.032766	0.22630	T	-0.0636517	0.42333	T	-0.0695286	0.65659	T	0.837069034576416	0.49090	D	0.739226	0.35772	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30765	B	.;.	.;.	3.044420	0.40826	21.2	0.99309170776257294	0.58943	0.77278	0.37978	D	AEFBHCIJ	0.124716	0.24090	N	0.0645996812780982	0.44815	2.748879	0.0991468785882716	0.44505	2.731047	0.996727954942703	0.34958	0.06567	0.01388	0	0.059962	0.00310	0	0.060301	0.00762	0	0.075334	0.01956	0	.	.	5.09	2.7	0.31007	3.172000	0.50532	3.313000	0.37480	0.665000	0.62972	1.000000	0.71638	0.985000	0.30750	0.996000	0.76049	0.8179:0.0:0.1821:0.0	7.241	0.25272	793	0.45818	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1535.65	35	chr11	7691973	.	A	G	1535.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.76;DP=284;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=0.807;SOR=0.7	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1205	5	0	2	0
chr11	7938764	7938764	C	T	exonic	OR10A3	.	nonsynonymous SNV	OR10A3:NM_001003745:exon1:c.G757A:p.G253S	.	429	1085	8	0	0	8	0.00367309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0041579155283	0.0018	0.000599042	0.0020	0.0004	0.0012	0	0	0.0029	0.0033	0.0015	0.0018758	290	154602	rs146467002	0.0021	0.0021	0.0021	0.0020	0.0026	0.0020	0.0020	0.0020	0.0020	0.0004	0.0016	0.0115	0	0.0004	0.0026	0.0021	0.0024	0.0018	0.0017	0.0017	0.0016	0.0017	0.0022	0.0015	0.0014	0.0019	0.0018	0.0004	0	0.0020	0.0132	0	0	0	0.0022	0.0014	0.0019	0.084	0.32929	T	0.067	0.44302	T	0.911	0.50336	P	0.6	0.50752	P	0.000833	0.41547	U	0.000000	0.994676	0.23467	N	1.575	0.39704	L	1.14	0.38397	T	-4.75	0.80256	D	0.266	0.30118	-0.9849	0.33856	T	0.119	0.41648	T	10	0.010415167	0.00232	T	0.004158	0.09995	T	0.158	0.41098	.	.	0.503374072614	0.49975	0.16378177724729304	0.16298	0.037006608582	0.03923	0.348554730415	0.17710	T	0.018675	0.15012	T	-0.428311	0.01517	T	-0.393564	0.34135	T	0.0345433062293743	0.02730	T	.	.	.	0.30084637	0.52981	0.3623418	0.61641	0.30084637	0.52981	0.3623418	0.61641	-6.25	0.48325	T	.	.	0.123	0.26294	B	.;.	.;.	3.647009	0.51738	23.1	0.99732202545928039	0.82833	0.23058	0.21952	N	AEFBI	0.184090	0.31141	N	0.194996121171081	0.50958	3.28109	0.16720067293782	0.48060	3.027184	2.07294232545529E-4	0.05948	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.74	4.74	0.59717	1.709000	0.37528	4.440000	0.43382	0.591000	0.32079	0.126000	0.23278	0.997000	0.33255	0.896000	0.43308	0.0:1.0:0.0:0.0	15.619	0.76536	793	0.45818	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.005435	0.000000	0.000000	0.000000	0.012195	0.007576	0.07143	2428.53	34	chr11	7938764	.	C	T	2428.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.027;DP=327;ExcessHet=0;FS=0.63;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.75;ReadPosRankSum=-0.325;SOR=0.65	GT:AD:DP:GQ:PL	0/1:56,89:145:99:2439,0,1456	6	0	1	0
chr11	7963399	7963399	G	A	exonic	NLRP10	.	nonsynonymous SNV	NLRP10:NM_176821:exon1:c.C97T:p.R33W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0142664598716	0.0002	0.000599042	0.0002	0.0005	8.648e-05	0	0	3.001e-05	0.0022	0.0012	0.0002329	36	154602	rs146049194	0.0001	0.0001	6.943e-05	0.0002	0.0015	0.0001	0.0001	0.0013	0.0012	0.0001	2.236e-05	0	0.0002	0	0.0007	1.799e-05	0.0002	0.0015	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	0.0003	0	0.0003	0	0	0	0	4.41e-05	0	0.0012	0.054	0.38633	T	0.086	0.40909	T	0.245	0.31074	B	0.071	0.27960	B	0.657249	0.10458	N	0.783587	1	0.08975	N	1.5	0.37844	L	0.83	0.47815	T	-2.48	0.69357	N	0.35	0.39153	-0.9460	0.41648	T	0.113	0.40284	T	10	0.01211828	0.00262	T	0.014266	0.34274	T	0.103	0.29403	.	.	0.53104733087	0.52752	0.44375052966841305	0.44293	0.105728612331	0.11951	0.42362254858	0.28335	T	0.054313	0.30292	T	-0.445085	0.01207	T	-0.452643	0.27405	T	0.00770362254277423	0.00090	T	.	.	.	0.061956163	0.12888	0.06968491	0.14714	0.061956163	0.12887	0.06968491	0.14714	-5.595	0.42746	T	.	.	0.238	0.47172	B	.;.	.;.	2.063786	0.26240	17.05	0.9871548151901014	0.45113	0.02589	0.07148	N	AEFGBCI	0.045687	0.07501	N	-0.860779057780444	0.11786	0.570701	-0.975023174518484	0.10348	0.5206107	0.99762241446635	0.35831	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.13	0.124	0.14016	-0.493000	0.06539	-0.473000	0.08966	-0.110000	0.15115	0.000000	0.06391	0.000000	0.08366	0.173000	0.21076	0.3344:0.0:0.461:0.2046	2.768	0.04999	768	0.49510	DAPIN domain|DAPIN domain|DAPIN domain;DAPIN domain|DAPIN domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	566.49	44	chr11	7963399	.	G	A	566.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.062;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.687;SOR=0.588	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1332	6	0	1	0
chr11	8640460	8640460	C	T	exonic	TRIM66	.	nonsynonymous SNV	TRIM66:NM_014818:exon9:c.G1480A:p.E494K	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	.	0.0028	0.00259585	0.0034	0.0010	0.0079	0	0.0030	0.0057	0.0083	0.0015	0.0010931	169	154602	rs183065153	0.0048	0.0046	0.0048	0.0047	0.0054	0.0047	0.0047	0.0053	0.0052	0.0006	0.0021	0.0036	2.823e-05	0.0042	0.0014	0.0054	0.0050	0.0021	0.0035	0.0035	0.0036	0.0034	0.0056	0.0032	0.0031	0.0047	0.0044	0.0009	0	0.0056	0.0032	0	0.0036	0	0.0050	0.0034	0.0021	0.004	0.65419	D	0.285	0.21343	T	0.751	0.43285	P	0.115	0.31843	B	0.008936	0.30598	N	0.149852	0.999997	0.08975	N	1.04	0.26193	L	2.27	0.17431	T	-0.91	0.25118	N	0.236	0.35938	-1.0356	0.18668	T	0.025	0.10866	T	10	0.005727023	0.00128	T	.	.	.	0.068	0.19811	.	.	0.393927044628	0.39002	0.43683994915403573	0.43600	.	.	0.616326332092	0.55210	T	0.004559	0.03968	T	-0.561372	0.00249	T	-0.577782	0.14743	T	0.0321910390005591	0.02337	T	0.810819	0.46223	T	0.108972475	0.25765	0.10950071	0.26392	0.108972475	0.25765	0.10950071	0.26391	-2.684	0.07170	T	.	.	0.108	0.37350	B	.;.;.	.;.;.	2.643668	0.34402	19.62	0.99331850435322155	0.59816	0.95795	0.66186	D	AEFDBI	0.229430	0.35296	N	-0.268213108783345	0.30384	1.693622	-0.266313988752801	0.29216	1.635056	0.995661963227626	0.34254	0.562547	0.31514	0	0.653731	0.59785	0	0.618376	0.41669	0	0.528226	0.09195	0	.	.	4.66	2.64	0.30504	3.801000	0.55249	5.764000	0.49701	-0.236000	0.07595	0.995000	0.38783	1.000000	0.68203	0.510000	0.29244	0.0:0.716:0.284:0.0	14.253	0.65578	363	0.84772	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1876.44	40	chr11	8640460	.	C	T	1876.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.53;DP=350;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.045;SOR=0.672	GT:AD:DP:GQ:PL	0/1:74,76:150:99:1887,0,1685	6	0	1	0
chr11	8730100	8730100	T	C	exonic	DENND2B	.	nonsynonymous SNV	DENND2B:NM_001376499:exon2:c.A650G:p.E217G,DENND2B:NM_001376498:exon3:c.A1190G:p.E397G,DENND2B:NM_213618:exon3:c.A1190G:p.E397G,DENND2B:NM_001376497:exon4:c.A1190G:p.E397G,DENND2B:NM_001376500:exon4:c.A509G:p.E170G,DENND2B:NM_001376496:exon5:c.A1190G:p.E397G,DENND2B:NM_005418:exon6:c.A1190G:p.E397G,DENND2B:NM_001376495:exon7:c.A1190G:p.E397G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.00793598913344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.026	0.55759	D	0.895	0.49247	P	0.468	0.46719	P	0.000020	0.62929	D	0.154265	0.999956	0.81001	D	1.59	0.40313	L	3.32	0.06214	T	-3.04	0.62863	D	0.554	0.57946	-1.1764	0.00425	T	0.032	0.13635	T	10	0.3726871	0.53597	T	0.007936	0.21059	T	0.200	0.48430	0.176	0.08257	0.110392049598	0.10638	0.18906831598123316	0.18824	0.782382142484	0.65358	0.633539915085	0.57647	T	0.264984	0.63681	T	-0.0693166	0.41436	T	-0.337345	0.40646	T	0.962216556072235	0.66304	D	0.917308	0.70348	D	0.19089854	0.40694	0.22522332	0.47460	0.19089854	0.40694	0.22522332	0.47459	-8.094	0.61709	D	.	.	0.286	0.51806	B	.;.	.;.	4.679143	0.74868	26.2	0.99897843867738523	0.97048	0.96799	0.71002	D	AEFDGBCI	0.967136	0.98961	D	0.617073806425867	0.74254	6.101559	0.685456410667593	0.81273	7.488545	0.999999999999975	0.74766	0.743674	0.98306	0	0.610034	0.51514	0	0.630245	0.45026	0	0.655142	0.61905	0	.	.	6.17	6.17	0.99707	7.674000	0.83146	7.936000	0.75280	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.822	0.85699	536	0.73233	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	67.44	33	chr11	8730100	.	T	C	67.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=312;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.86;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,102,1320:.	6	0	1	0
chr11	9574409	9574409	C	T	exonic	WEE1	.	nonsynonymous SNV	WEE1:NM_003390:exon1:c.C476T:p.A159V	.	425	1081	15	1	0	17	0.00780174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.161941536583	.	0.00239617	0	0	0	0	.	0	.	0	0.0015752	41	26028	rs562855683	0.0045	0.0041	0.0045	0.0046	0.0092	0.0044	0.0044	0.0081	0.0077	0.0005	0.0015	0.0044	0	0.0097	0.0021	0.0046	0.0030	0.0092	0.0038	0.0038	0.0038	0.0038	0.0067	0.0036	0.0035	0.0051	0.0049	0.0009	0	0.0021	0.0026	0	0.0091	0	0.0055	0.0019	0.0067	0.283	0.15354	T	0.285	0.21343	T	0.273	0.31830	B	0.028	0.21332	B	0.353298	0.13782	N	0.705645	0.995463	0.23284	N	0	0.06538	N	0.69	0.51714	T	-0.51	0.15986	N	0.06	0.03175	-1.0927	0.05097	T	0.052	0.21960	T	10	0.00449422	0.00092	T	0.161942	0.84162	D	0.014	0.01968	.	.	0.138757226776	0.13463	0.08672547192164567	0.08606	1.28515269646	0.82641	0.843092679977	0.88566	D	0.087563	0.37969	T	-0.573349	0.00211	T	-0.591507	0.13536	T	0.0497972691426054	0.05464	T	0.430157	0.11673	T	0.030152809	0.02631	0.034189638	0.02442	0.030152809	0.02630	0.034189638	0.02442	-5.603	0.42820	T	.	.	0.100	0.16929	B	.	.	1.112831	0.14983	11.49	0.98118912382833978	0.38416	0.15369	0.18878	N	AEFDBHCIJ	0.064888	0.12625	N	-0.924980351200793	0.10260	0.4894477	-0.909819035814057	0.11862	0.6069085	0.999999528256407	0.74766	0.733237	0.96898	0	0.218748	0.04544	0	0.600757	0.32118	0	0.249971	0.05119	0	.	.	3.44	2.52	0.29514	-0.263000	0.08695	-0.225000	0.10728	0.233000	0.18164	0.001000	0.13787	0.000000	0.08366	0.181000	0.21328	0.0:0.6775:0.2026:0.1199	5.587	0.16559	641	0.64016	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	502.53	12	chr11	9574409	.	C	T	502.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.19;DP=172;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.265;SOR=0.859	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,855	6	0	1	0
chr11	10559865	10559865	G	A	exonic	LYVE1	.	nonsynonymous SNV	LYVE1:NM_006691:exon5:c.C733T:p.L245F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0249011538797	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1326559895	6.842e-07	6.841e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.0	0.92824	D	0.999	0.90584	D	0.976	0.88582	D	0.000573	0.43250	D	0.095518	0.99588	0.42905	D	1.965	0.53209	M	2.78	0.49358	T	-2.11	0.70674	N	0.409	0.51315	-0.5105	0.68268	T	0.278	0.64967	T	10	0.45759934	0.59086	T	0.024901	0.47884	T	0.160	0.41473	.	.	0.658847598183	0.65599	0.361144483683018	0.36028	0.377967339066	0.39223	0.500039219856	0.38834	T	0.300945	0.67341	T	-0.111418	0.34533	T	-0.300967	0.44623	T	0.827329337596893	0.48323	D	0.793521	0.48098	T	0.18578689	0.39958	0.22161359	0.46978	0.18578689	0.39957	0.22161359	0.46977	-5.077	0.37664	T	.	.	0.174	0.50101	B	.;.	.;.	4.372186	0.67324	25.1	0.99901083335078478	0.97275	0.81219	0.40669	D	AEFI	0.647709	0.62279	D	0.664914981409489	0.77336	6.655425	0.630086732795568	0.77137	6.621437	0.00746831632290659	0.11472	0.615465	0.37627	0	0.563428	0.19063	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.44	4.52	0.54797	1.430000	0.34522	8.736000	0.78194	0.676000	0.76740	0.951000	0.33123	1.000000	0.68203	0.997000	0.79791	0.0783:0.0:0.9217:0.0	13.458	0.60664	516	0.74704	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	65.63	35	chr11	10559865	.	G	A	65.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.743;DP=306;ExcessHet=0;FS=61.261;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=1.54;SOR=5.993	GT:AD:DP:GQ:PL	0/1:104,19:123:76:76,0,3311	6	0	1	0
chr11	10779032	10779032	A	G	exonic	CTR9	.	nonsynonymous SNV	CTR9:NM_001346279:exon24:c.A3377G:p.E1126G,CTR9:NM_014633:exon25:c.A3449G:p.E1150G	.	430	1081	11	0	0	11	0.00506213	.	.	.	1156557	CTR9-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.064	0.00735543223924	0.0009	0.00159744	0.0013	0.0010	0.0022	0	0	0.0017	0.0022	0.0004	0.001313	203	154602	rs35023148	0.0011	0.0011	0.0011	0.0012	0.0196	0.0011	0.0011	0.0167	0.0156	0.0024	0.0029	0.0036	0	3.745e-05	0.0196	0.0009	0.0028	0.0004	0.0014	0.0014	0.0014	0.0014	0.0035	0.0013	0.0012	0.0027	0.0025	0.0009	0	0.0035	0.0026	0	0	0.0272	0.0014	0.0052	0.0004	0.191	0.21066	T	0.292	0.20877	T	0.0	0.02946	B	0.0	0.01387	B	0.000286	0.46274	D	0.251882	0.991945	0.41514	D	-0.46	0.02758	N	0.88	0.46028	T	0.1	0.05810	N	0.074	0.04790	-1.0621	0.11239	T	0.060	0.25018	T	10	0.007390231	0.00168	T	0.007355	0.19496	T	0.064	0.18567	.	.	0.279809986126	0.27602	0.12262613186542184	0.12188	0.284446444391	0.30868	0.429881513119	0.29193	T	0.038339	0.24803	T	-0.575505	0.00205	T	-0.6025	0.12602	T	0.0297061090305804	0.01944	T	0.814918	0.46941	T	0.06224066	0.12979	0.073870316	0.16098	0.06224066	0.12978	0.073870316	0.16098	-1.858	0.02688	T	.	.	0.060	0.00979	B	.	.	3.349515	0.46190	22.3	0.99559095297850686	0.71645	0.86493	0.45784	D	AEFBHCI	0.296098	0.40603	N	-0.339572229449747	0.27658	1.519175	-0.163911623868024	0.32876	1.874814	0.999999995954585	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	4.495000	0.60074	11.273000	0.91473	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.9279:0.0:0.0721:0.0	11.040	0.47042	658	0.62094	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.026183	0.050505	0.028533	0.046784	0.000000	0.034483	0.009146	0.003788	0.07143	641.63	33	chr11	10779032	.	A	G	641.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.21;DP=222;ExcessHet=0;FS=2.145;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=-0.47;SOR=0.998	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1166	6	0	1	0
chr11	10853306	10853306	C	T	exonic	ZBED5	.	nonsynonymous SNV	ZBED5:NM_001143667:exon3:c.G1640A:p.S547N,ZBED5:NM_021211:exon3:c.G1640A:p.S547N	.	435	1018	63	6	0	75	0.0355282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	0.0018	0.00359425	0.0089	0.0024	0.0027	0	0	0.0033	0.0102	0.0179	0.0018693	289	154602	rs149344014	0.0040	0.0039	0.0036	0.0045	0.0253	0.0040	0.0039	0.0219	0.0206	0.0005	0.0048	0.0039	0	0.0006	0.0253	0.0034	0.0049	0.0163	0.0031	0.0031	0.0027	0.0036	0.0180	0.0029	0.0028	0.0150	0.0138	0.0006	0.0175	0.0052	0.0026	0.0002	0.0007	0.0170	0.0034	0.0061	0.0180	0.297	0.14645	T	0.275	0.22016	T	0.838	0.46404	P	0.429	0.45365	B	.	.	.	.	0.965601	0.25931	N	1.195	0.30194	L	2.07	0.20387	T	-0.25	0.11008	N	0.132	0.12770	-1.1044	0.03598	T	0.030	0.13067	T	9	0.005743891	0.00128	T	.	.	.	0.051	0.14325	.	.	0.152612264143	0.14878	0.3926522387171367	0.39180	.	.	0.546009838581	0.45294	T	0.011072	0.09929	T	-0.545125	0.00312	T	-0.542837	0.18018	T	0.0192128586043698	0.00628	T	0.316468	0.06291	T	0.099952675	0.23594	0.09674408	0.23000	0.099952675	0.23594	0.09674408	0.22999	-3.472	0.16042	T	.	.	0.097	0.15698	B	.;.	.;.	1.524214	0.19565	14.33	0.9633974236410533	0.29476	0.70214	0.34498	D	AEFBI	0.081199	0.16429	N	0.0833933956385252	0.45690	2.821236	0.136925729028954	0.46454	2.891047	0.999998665454906	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.88	3.88	0.43959	0.847000	0.27348	1.032000	0.23488	0.454000	0.21428	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	11.645	0.50517	587	0.69154	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012821	0.000000	0.000000	0.000000	0.100000	0.000000	0.033333	0.044118	0.1429	3673.22	37	chr11	10853306	.	C	T	3673.22	.	AC=2;AF=0.143;AN=14;DP=319;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=59.93;QD=34.01;SOR=0.769	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1040	6	1	0	0
chr11	12293628	12293628	G	A	exonic	MICALCL	.	nonsynonymous SNV	MICALCL:NM_032867:exon3:c.G197A:p.R66Q	.	437	1018	62	5	0	72	0.0341556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	0.0046	0.00998403	0.0073	0.0015	0.0062	0.0242	0.0038	0.0056	0.0056	0.0110	0.0066558	1029	154602	rs148792670	0.0062	0.0062	0.0060	0.0064	0.0217	0.0061	0.0060	0.0186	0.0179	0.0008	0.0049	0.0054	0.0195	0.0027	0.0217	0.0056	0.0083	0.0099	0.0051	0.0052	0.0051	0.0052	0.0231	0.0048	0.0047	0.0197	0.0184	0.0010	0.0044	0.0056	0.0061	0.0231	0.0027	0.0170	0.0061	0.0071	0.0102	0.673	0.04521	T	0.502	0.11115	T	.	.	.	.	.	.	0.530288	0.11646	N	0.701301	1	0.08975	N	.	.	.	3.36	0.05918	T	0.25	0.04456	N	0.03	0.00717	-0.9170	0.45958	T	0.003	0.01026	T	10	0.0025303662	0.00038	T	.	.	.	0.007	0.00512	.	.	0.132336055621	0.12781	.	.	0.0162568994873	0.01562	0.216049045324	0.01094	T	.	.	.	-0.742639	0.00020	T	-0.818576	0.01482	T	0.00101569959699687	0.00010	T	0.488651	0.14976	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18622	B	.;.	.;.	0.231460	0.06126	2.572	0.78592888275697237	0.12368	0.01101	0.04040	N	AEFDBI	0.030233	0.03004	N	-1.85835775263321	0.00417	0.0179525	-1.81897311249413	0.00700	0.03118622	0.955462753322834	0.28190	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.71	-3.9	0.03904	0.079000	0.14636	1.571000	0.27417	-0.763000	0.03499	0.079000	0.22314	0.968000	0.29604	0.003000	0.05239	0.3934:0.0:0.4217:0.1849	7.360	0.25913	906	0.23090	.;.	.	.	.	.	rs148792670	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018630	0.000000	0.021739	0.035088	0.000000	0.025862	0.021341	0.011364	0.1429	1051.24	107	chr11	12293628	.	G	A	1051.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.73;DP=291;ExcessHet=0.3476;FS=2.397;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=0.594;SOR=0.487	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1362	5	0	2	0
chr11	17410524	17410524	C	A	exonic	ABCC8	.	nonsynonymous SNV	ABCC8:NM_000352:exon22:c.G2686T:p.A896S,ABCC8:NM_001287174:exon22:c.G2689T:p.A897S,ABCC8:NM_001351295:exon22:c.G2752T:p.A918S,ABCC8:NM_001351296:exon22:c.G2686T:p.A896S,ABCC8:NM_001351297:exon22:c.G2683T:p.A895S	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.748	0.518874336747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.34800	T	0.083	0.41405	T	0.866	0.47610	P	0.766	0.56676	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.86	0.49225	L	-3.79	0.95663	D	-2.58	0.55662	D	0.814	0.81063	0.940	0.96245	D	0.893	0.96462	D	10	0.93596876	0.92927	D	0.518874	0.95416	D	0.748	0.91328	0.82	0.93328	0.960715626261	0.96029	0.6933529392469057	0.69275	0.540596893397	0.51250	0.827973246574	0.86253	D	0.668592	0.90137	D	0.333148	0.85374	D	0.240768	0.85182	D	0.952651917934418	0.63842	D	0.906109	0.69158	D	0.52633643	0.68622	0.33688512	0.59485	0.52633643	0.68623	0.33688512	0.59485	-7.529	0.58353	D	0.6056492590569686	0.67291	0.299	0.59454	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.084831	0.84876	28.4	0.99749969311008679	0.84152	0.98715	0.85931	D	AEFBI	0.952062	0.96718	D	0.774305775118254	0.84476	8.298264	0.820113944385384	0.91154	10.74584	0.999999999999073	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	6.17	6.17	0.99707	7.591000	0.81934	7.611000	0.61914	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.060	0.93068	586	0.69252	ABC transporter-like|AAA+ ATPase domain;.;ABC transporter-like|AAA+ ATPase domain;.;ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr11	17410524	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1254	6	1	0	0
chr11	17553211	17553211	G	A	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon4:c.G421A:p.V141M,OTOG:NM_001292063:exon5:c.G385A:p.V129M	Deafness, autosomal recessive 18B, Autosomal recessive	8	1506	8	0	0	8	0.00264901	1.0000	0.996	.	230045	Meniere_disease|not_specified|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_18B|OTOG-related_disorder	MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013985,MedGen:C3554163,OMIM:614945,Orphanet:90636|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.252	.	.	0.000599042	0.0004	0.0011	0	0	0	0.0008	0	0.0001	0.0001876	29	154602	rs552304627	0.0009	0.0009	0.0009	0.0009	0.0019	0.0009	0.0009	0.0012	0.0011	6.33e-05	0.0016	7.947e-05	0	4.164e-05	0.0019	0.0011	0.0009	0.0001	0.0008	0.0008	0.0008	0.0009	0.0018	0.0007	0.0007	0.0012	0.0011	0.0003	0.0011	0.0018	0.0003	0	0	0.0136	0.0012	0.0009	0	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	0.000131	0.49741	U	0.000000	0.999995	0.58761	D	2.275	0.64647	M	2.11	0.19860	T	-2.28	0.50830	N	0.498	0.53884	0.735	0.93610	D	0.810	0.93572	D	8	0.029867262	0.01113	T	0.152769	0.83414	D	0.252	0.56159	.	.	0.289098819767	0.28531	0.40285226492066106	0.40201	.	.	0.809623837471	0.83434	D	0.138145	0.47147	T	-0.27063	0.11686	T	-0.168782	0.57554	T	0.0839331305810653	0.10482	T	0.862614	0.55818	D	0.30592415	0.53430	0.4042858	0.64861	0.3123483	0.53988	0.39376733	0.64087	-5.755	0.44180	T	.	.	0.744	0.78641	P	.;.;.	.;.;.	6.335095	0.95035	34	0.99877465426074996	0.95410	0.99029	0.90187	D	AEFDBI	0.916781	0.88347	D	0.664749203087661	0.77325	6.653394	0.615510663787076	0.76067	6.423032	0.999999999988696	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	9.602000	0.97623	11.698000	0.94457	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:0.0:1.0:0.0	18.695	0.91557	754	0.51307	von Willebrand factor, type D domain;von Willebrand factor, type D domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	434.83	38	chr11	17553211	.	G	A	434.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.62;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.947;SOR=0.636	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	6	0	1	0
chr11	17629140	17629140	T	C	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon39:c.T6572C:p.V2191A,OTOG:NM_001292063:exon40:c.T6536C:p.V2179A	Deafness, autosomal recessive 18B, Autosomal recessive	9	1499	13	1	0	15	0.00497843	.	.	.	1559831	not_provided|OTOG-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.451	0.0920875826919	.	.	0.0006	0	0	0	0	0.0014	0.0052	0.0001	0.0001164	18	154602	rs770039471	0.0005	0.0005	0.0005	0.0005	0.0014	0.0005	0.0004	0.0007	0.0005	3.166e-05	0.0003	0.0020	0	0	0.0014	0.0005	0.0008	0.0001	0.0003	0.0003	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	7.241e-05	0	0.0002	0.0020	0	0	0	0.0004	0	0	0.038	0.42783	D	0.003	0.76473	D	.	.	.	.	.	.	0.008882	0.30616	N	0.256385	0.999826	0.49512	D	2.785	0.81254	M	-0.11	0.64445	T	-3.6	0.69357	D	0.632	0.74280	-0.3787	0.72692	T	0.378	0.73557	T	10	0.16611701	0.31030	T	0.092088	0.75827	D	0.451	0.75143	.	.	0.406668915854	0.40277	0.7002975342164074	0.69970	.	.	0.477145075798	0.35664	T	0.383224	0.74513	T	-0.046668	0.44952	T	0.0191315	0.71574	D	0.158410605399073	0.17753	T	0.712229	0.32360	T	0.3060879	0.53445	0.34957027	0.60580	0.3060879	0.53445	0.34957027	0.60580	-6.967	0.53792	T	.	.	0.210	0.46745	B	.;.	.;.	4.742533	0.76494	26.5	0.99840561408345907	0.92143	0.99128	0.91637	D	AEFBI	0.679314	0.64338	D	0.583002394821454	0.72115	5.755049	0.539530761147526	0.70672	5.539787	0.975825943528441	0.29668	0.594549	0.33734	0	0.59043	0.45803	0	0.597571	0.31856	0	0.530356	0.10902	0	.	.	5.28	5.28	0.74118	7.088000	0.76565	7.840000	0.70487	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.693000	0.33928	0.0:0.0:0.0:1.0	14.491	0.67235	677	0.60274	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1360.49	35	chr11	17629140	.	T	C	1360.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.811;DP=297;ExcessHet=0;FS=2.508;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.345;SOR=0.453	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1220	6	0	1	0
chr11	17629295	17629295	G	A	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon39:c.G6727A:p.A2243T,OTOG:NM_001292063:exon40:c.G6691A:p.A2231T	Deafness, autosomal recessive 18B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.014732550424	.	.	0.0006	0	0	0	0	0	0	0.0011	5.17e-05	8	154602	rs760275132	3.648e-05	3.489e-05	1.129e-05	6.236e-05	0.0006	2.82e-05	2.549e-05	0.0005	0.0004	0	0	0	2.798e-05	0	0.0004	0	0	0.0006	3.282e-05	3.281e-05	0	6.711e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	1.0	0.00964	T	0.707	0.05582	T	.	.	.	.	.	.	0.184967	0.17001	N	0.578813	1	0.08975	N	0.475	0.13142	N	0.31	0.58613	T	0.58	0.02598	N	0.063	0.11340	-1.0636	0.10878	T	0.076	0.30460	T	10	0.053962052	0.05672	T	0.014733	0.35036	T	0.109	0.30843	0.787	0.90993	0.154104182512	0.14974	0.2512968665140304	0.25043	.	.	0.252080976963	0.03990	T	0.014391	0.12263	T	-0.526815	0.00401	T	-0.612542	0.11779	T	0.0428740139065331	0.04214	T	0.628437	0.24364	T	0.030174067	0.02636	0.04663838	0.06545	0.027145276	0.01866	0.041078303	0.04586	-4.658	0.32892	T	.	.	0.065	0.02118	B	.;.	.;.	1.044516	0.14254	10.83	0.77108824030935308	0.11740	0.08979	0.14824	N	AEFDBI	0.076769	0.15450	N	-0.763099528944849	0.14280	0.7100383	-0.683274590181985	0.17378	0.9238115	1.39321978693664E-5	0.02871	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.58	1.16	0.19936	0.303000	0.18965	-0.197000	0.10982	0.676000	0.76740	0.024000	0.20007	0.000000	0.08366	0.916000	0.45140	0.257:0.2445:0.3203:0.1783	0.627	0.00737	677	0.60274	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	2738.23	35	chr11	17629295	.	G	A	2738.23	.	AC=2;AF=0.143;AN=14;DP=270;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=31.12;SOR=1.691	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1220	6	1	0	0
chr11	17642200	17642200	G	A	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon52:c.G8405A:p.R2802H,OTOG:NM_001292063:exon53:c.G8369A:p.R2790H	Deafness, autosomal recessive 18B, Autosomal recessive	8	1492	20	2	0	24	0.00797872	.	.	.	230180	Meniere_disease|not_provided|not_specified	MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.059	0.0283372504366	.	0.00239617	0.0037	0	0.0070	0	0	0.0058	0	0.0031	0.000925	143	154602	rs117315845	0.0023	0.0022	0.0024	0.0023	0.0079	0.0023	0.0022	0.0061	0.0054	0.0005	0.0029	0.0118	8.395e-05	2.078e-05	0.0079	0.0022	0.0031	0.0025	0.0020	0.0020	0.0021	0.0020	0.0029	0.0019	0.0018	0.0022	0.0021	0.0005	0	0.0029	0.0141	0.0002	0	0.0068	0.0025	0.0047	0.0027	0.235	0.18000	T	0.032	0.53426	D	.	.	.	.	.	.	0.415666	0.12937	U	0.633406	0.997058	0.22807	N	0	0.06538	N	2.34	0.16351	T	-0.79	0.21860	N	0.12	0.11054	-1.0156	0.25143	T	0.013	0.05273	T	8	0.0062504113	0.00141	T	0.028337	0.51029	D	0.059	0.16972	.	.	0.104622674875	0.10061	0.322351961586085	0.32148	.	.	0.453960210085	0.32485	T	0.069659	0.33766	T	-0.622543	0.00106	T	-0.670695	0.07564	T	0.0170966670649605	0.00455	T	0.79692	0.44325	T	0.03753874	0.04831	0.030210957	0.01449	0.044588383	0.07152	0.042879596	0.05206	-4.586	0.31995	T	.	.	0.087	0.13597	B	.;.	.;.	2.990201	0.39914	21.1	0.9623178987708948	0.29122	0.54556	0.29645	D	AEFDBI	0.232467	0.35553	N	-0.464700989427482	0.23244	1.246863	-0.420621056808819	0.24392	1.335474	3.90753324716607E-4	0.06781	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.98	1.77	0.23848	2.720000	0.46921	3.318000	0.37521	-0.182000	0.10109	0.651000	0.28180	1.000000	0.68203	0.095000	0.18041	0.193:0.2781:0.3936:0.1353	1.796	0.02876	677	0.60274	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1021.49	80	chr11	17642200	.	G	A	1021.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.076;DP=255;ExcessHet=0;FS=1.848;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-0.387;SOR=0.801	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1469	6	0	1	0
chr11	18283808	18283808	C	T	exonic	HPS5	.	nonsynonymous SNV	HPS5:NM_007216:exon20:c.G2703A:p.M901I,HPS5:NM_181508:exon20:c.G2703A:p.M901I,HPS5:NM_181507:exon21:c.G3045A:p.M1015I	Hermansky-Pudlak syndrome 5	1	1499	21	1	0	23	0.00761337	.	.	.	254081	not_specified|Hermansky-Pudlak_syndrome_5|not_provided	MedGen:CN169374|MONDO:MONDO:0013557,MedGen:C3888004,OMIM:614074,Orphanet:231512,Orphanet:79430|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.061	0.00343407009999	0.0065	0.00219649	0.0053	0.0013	0.0033	0	0.0032	0.0081	0.0055	0.0019	0.0054333	840	154602	rs61755718	0.0062	0.0063	0.0062	0.0063	0.0090	0.0061	0.0061	0.0071	0.0069	0.0009	0.0048	0.0056	0	0.0035	0.0090	0.0071	0.0062	0.0024	0.0051	0.0051	0.0053	0.0049	0.0092	0.0048	0.0047	0.0080	0.0075	0.0010	0	0.0092	0.0066	0	0.0025	0.0204	0.0076	0.0062	0.0023	0.274	0.20988	T	0.263	0.48336	T	0.002	0.09854	B	0.003	0.08700	B	0.000030	0.55875	D	0.182193	0.944391	0.26692	N	0.755	0.19153	N	0.65	0.52642	T	-0.32	0.16187	N	0.367	0.41853	-1.0841	0.06572	T	0.037	0.15986	T	10	0.0052384734	0.00114	T	0.003434	0.07725	T	0.061	0.17616	0.19	0.10039	0.437850553699	0.43404	0.363894242531548	0.36303	0.0585039543478	0.06489	0.435782372952	0.30000	T	0.099721	0.40481	T	-0.467136	0.00886	T	-0.438376	0.28990	T	0.00679383975175657	0.00077	T	0.789321	0.47137	T	0.10789853	0.25512	0.08325923	0.19068	0.098915875	0.23338	0.08325923	0.19067	-1.696	0.02585	T	.	.	0.418	0.61725	A	.;.;.;.	.;.;.;.	3.205910	0.43621	21.8	0.9603410061052392	0.28512	0.89374	0.49800	D	AEFBI	0.202774	0.32934	N	-0.208970558572334	0.32765	1.85152	0.0622409162456563	0.42668	2.584779	0.253676565573333	0.18707	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.98	5.07	0.68106	1.708000	0.37518	3.965000	0.40779	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1427:0.7865:0.0:0.0707	9.546	0.38447	670	0.60992	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013092	0.005051	0.024457	0.000000	0.000000	0.000000	0.015244	0.011364	0.07143	791.44	65	chr11	18283808	.	C	T	791.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.192;DP=278;ExcessHet=0;FS=0.942;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=0.381;SOR=0.877	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,102,1530	6	0	1	0
chr11	18719865	18719865	T	C	exonic	IGSF22	.	nonsynonymous SNV	IGSF22:NM_173588:exon7:c.A547G:p.K183E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.0121660291587	.	.	8.281e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs757130357	1.984e-05	1.984e-05	2.042e-05	1.925e-05	2.987e-05	1.392e-05	1.203e-05	1.663e-05	1.425e-05	2.987e-05	0	0	0	0	0	2.428e-05	1.656e-05	0	1.314e-05	1.313e-05	0	2.69e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.226	0.18562	T	0.0	0.92824	D	.	.	.	.	.	.	0.033242	0.24922	N	0.192972	0.999505	0.21084	N	.	.	.	0.65	0.52642	T	-0.45	0.14782	N	0.418	0.45803	-1.0103	0.26823	T	0.120	0.42015	T	10	0.26400378	0.43884	T	0.012166	0.30502	T	0.099	0.28413	0.417	0.45709	0.760942616389	0.75876	0.13244731691086062	0.13168	0.571060429895	0.53246	0.447722673416	0.31632	T	.	.	.	-0.303824	0.08303	T	-0.49267	0.23112	T	0.995907425880432	0.88288	D	0.492651	0.15191	T	.	.	.	.	.	.	.	.	-4.868	0.35373	T	.	.	0.180	0.39237	B	.	.	2.687851	0.35076	19.80	0.99717820523170853	0.81843	0.67459	0.33440	D	AEFBI	0.203330	0.32985	N	0.0314385399136662	0.43289	2.624797	0.0141768290737165	0.40371	2.408323	0.0900843971562646	0.16100	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	2.87	2.87	0.32523	4.213000	0.58317	0.046000	0.13935	0.502000	0.22824	1.000000	0.71638	0.020000	0.20764	0.931000	0.46843	0.0:0.0:0.0:1.0	9.295	0.36969	759	0.50631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	945.44	67	chr11	18719865	.	T	C	945.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.22;DP=252;ExcessHet=0;FS=4.843;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-1.124;SOR=1.306	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr11	20044210	20044210	G	T	exonic	NAV2	.	nonsynonymous SNV	NAV2:NM_001111019:exon4:c.G395T:p.G132V,NAV2:NM_145117:exon13:c.G3137T:p.G1046V,NAV2:NM_182964:exon13:c.G3137T:p.G1046V,NAV2:NM_001111018:exon14:c.G2945T:p.G982V,NAV2:NM_001244963:exon14:c.G3206T:p.G1069V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.0214700162384	.	.	3.301e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs544826202	1.163e-05	1.163e-05	6.806e-06	1.65e-05	0.0002	7.08e-06	5.79e-06	0.0001	8.645e-05	0	0	0	0	0	0	0	3.312e-05	0.0002	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.005	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000012	0.62929	D	0.000000	1	0.81001	D	2.11	0.58565	M	1.48	0.31731	T	-5.55	0.93175	D	0.943	0.95021	-0.9400	0.42616	T	0.177	0.52178	T	9	0.6923436	0.71933	D	0.02147	0.44242	T	0.486	0.77464	0.357	0.35897	0.417183330711	0.41332	0.5040079494122701	0.50322	0.747551704115	0.63598	0.775880396366	0.78307	T	0.175343	0.88611	T	0.0580025	0.59361	T	0.145864	0.79921	D	0.835188627243042	0.48939	D	0.989401	0.99924	D	0.83616316	0.86334	0.8069646	0.88707	0.83616316	0.86336	0.8069646	0.88708	-14.195	0.93673	D	.	.	0.884	0.81691	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.553166	0.71681	25.7	0.99835003312496085	0.91628	0.99446	0.96131	D	AEFBI	0.945087	0.95297	D	0.812337696598495	0.86871	9.026805	0.820787270300151	0.91201	10.76788	0.999999999999936	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	9.757000	0.98114	11.807000	0.96822	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.451	0.94861	888	0.27761	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1539.49	33	chr11	20044210	.	G	T	1539.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.094;DP=281;ExcessHet=0;FS=2.611;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=-0.114;SOR=0.468	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1037	6	0	1	0
chr11	20092320	20092320	A	G	exonic	NAV2	.	nonsynonymous SNV	NAV2:NM_001111019:exon18:c.A2959G:p.M987V,NAV2:NM_145117:exon28:c.A5767G:p.M1923V,NAV2:NM_182964:exon28:c.A5776G:p.M1926V,NAV2:NM_001111018:exon29:c.A5575G:p.M1859V,NAV2:NM_001244963:exon30:c.A5944G:p.M1982V	.	419	1091	11	1	0	13	0.00592255	.	.	.	3192262	NAV2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.055	.	0.0005	0.00259585	0.0021	0.0003	0.0018	0	0	0.0006	0.0011	0.0118	0.0018823	291	154602	rs140693573	0.0011	0.0011	0.0008	0.0014	0.0114	0.0011	0.0010	0.0109	0.0106	0.0002	0.0013	0.0020	0	0	0.0062	0.0003	0.0015	0.0114	0.0007	0.0007	0.0007	0.0008	0.0104	0.0006	0.0006	0.0081	0.0073	0.0001	0	0.0009	0.0009	0.0002	9.418e-05	0.0034	0.0005	0.0019	0.0104	0.292	0.18434	T	0.277	0.22561	T	0.0	0.02946	B	0.0	0.04355	B	0.711572	0.10009	N	0.878099	0.999999	0.08975	N	0.845	0.21182	L	1.77	0.25841	T	-0.63	0.24026	N	0.219	0.25130	-1.0693	0.09567	T	0.021	0.08732	T	9	0.0035722852	0.00065	T	.	.	.	0.055	0.15663	.	.	0.23524818089	0.23142	0.18010943180078337	0.17929	0.41494507042	0.42158	0.299527615309	0.10331	T	0.011155	0.36026	T	-0.671016	0.00054	T	-0.726257	0.04500	T	0.0108014514994385	0.00153	T	0.824517	0.48627	T	0.042037062	0.06301	0.06588853	0.13417	0.042037062	0.06301	0.06588853	0.13417	-4.548	0.31512	T	.	.	0.053	0.01491	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.009564	0.04347	1.111	0.59728580425167499	0.06293	0.07059	0.13085	N	AEFBI	0.072710	0.14519	N	-1.43625411616667	0.02327	0.1026254	-1.52721831279669	0.02137	0.09782311	0.999999999994081	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.17	-12.3	0.00001	-0.274000	0.08569	-1.440000	0.05434	-0.083000	0.16234	0.000000	0.06391	0.000000	0.08366	0.990000	0.65344	0.2238:0.5122:0.0534:0.2106	8.329	0.31336	875	0.30485	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005539	0.005051	0.000000	0.008772	0.000000	0.008621	0.000000	0.015152	0.07143	277.53	32	chr11	20092320	.	A	G	277.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.922;DP=196;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=-0.817;SOR=0.551	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1117	6	0	1	0
chr11	22218262	22218262	A	G	exonic	ANO5	.	nonsynonymous SNV	ANO5:NM_001142649:exon4:c.A152G:p.N51S,ANO5:NM_213599:exon4:c.A155G:p.N52S	Gnathodiaphyseal dysplasia, Autosomal dominant;Miyoshi muscular dystrophy 3, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2L, Autosomal recessive	2	1504	16	0	0	16	0.00529101	.	.	YES	194564	Gnathodiaphyseal_dysplasia|not_provided|not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L|ANO5-Related_Muscle_Diseases	MONDO:MONDO:0008151,MedGen:C1833736,OMIM:166260,Orphanet:53697|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012652,MedGen:C1969785,OMIM:611307,Orphanet:206549|MedGen:CN180644	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.167	0.0771798226101	0.0025	0.00119808	0.0019	0.0007	0.0023	0	0.0012	0.0024	0.0055	0.0016	0.0020181	312	154602	rs143777403	0.0028	0.0028	0.0027	0.0028	0.0045	0.0027	0.0027	0.0032	0.0030	0.0006	0.0021	3.83e-05	0	0.0013	0.0045	0.0031	0.0028	0.0023	0.0024	0.0024	0.0026	0.0022	0.0048	0.0022	0.0021	0.0039	0.0036	0.0008	0	0.0048	0.0003	0	0.0009	0	0.0034	0.0033	0.0021	0.155	0.24183	T	0.354	0.17268	T	0.982	0.60036	D	0.473	0.46845	P	0.000094	0.51296	D	0.136478	0.867587	0.35502	D	1.28	0.32218	L	-0.55	0.71068	T	-1.51	0.36787	N	0.828	0.82358	-0.5162	0.68058	T	0.288	0.65968	T	10	0.037495136	0.02108	T	0.07718	0.72709	D	0.167	0.42761	.	.	0.855486035999	0.85409	0.31611475711489445	0.31524	0.41921375861	0.42481	0.45931917429	0.33217	T	0.059543	0.31144	T	-0.472193	0.00824	T	-0.451569	0.27523	T	0.0119192627461977	0.00186	T	0.735226	0.35154	T	0.11971893	0.28185	0.14512795	0.34431	0.11971893	0.28184	0.14512795	0.34430	-3.364	0.14576	T	.	.	0.116	0.23360	B	.	.	3.078039	0.41394	21.3	0.99346575813317328	0.60412	0.97183	0.73178	D	AEFI	0.677588	0.64224	D	0.406070488179022	0.61755	4.381049	0.483276382154926	0.66882	5.010275	0.973475985227051	0.29459	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.87	5.87	0.94266	6.137000	0.71462	11.125000	0.86648	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.281	0.82514	795	0.45444	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.003788	0.07143	308.44	34	chr11	22218262	.	A	G	308.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.633;DP=249;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.14;ReadPosRankSum=-0.397;SOR=0.836	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	6	0	1	0
chr11	22272895	22272895	C	G	exonic	ANO5	.	nonsynonymous SNV	ANO5:NM_001142649:exon19:c.C2138G:p.T713S,ANO5:NM_213599:exon19:c.C2141G:p.T714S	Gnathodiaphyseal dysplasia, Autosomal dominant;Miyoshi muscular dystrophy 3, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2L, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	YES	192166	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L|Gnathodiaphyseal_dysplasia|not_provided|ANO5-Related_Muscle_Diseases	MONDO:MONDO:0012652,MedGen:C1969785,OMIM:611307,Orphanet:206549|MONDO:MONDO:0008151,MedGen:C1833736,OMIM:166260,Orphanet:53697|MedGen:C3661900|MedGen:CN180644	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.498	0.0222549554459	0.0005	0.000199681	0.0007	0	0.0006	0	0	0.0010	0	0.0012	0.0006921	107	154602	rs200631556	0.0008	0.0008	0.0007	0.0008	0.0057	0.0007	0.0007	0.0042	0.0037	0.0001	0.0010	0.0013	0	0	0.0057	0.0008	0.0009	0.0013	0.0009	0.0009	0.0010	0.0008	0.0014	0.0008	0.0007	0.0011	0.0010	0.0002	0	0.0014	0.0020	0	0	0	0.0013	0.0033	0.0006	0.067	0.35918	T	0.05	0.48080	T	0.03	0.20002	B	0.258	0.39350	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.425	0.70256	M	-0.16	0.65378	T	-3.33	0.66206	D	0.854	0.85027	-0.5355	0.67334	T	0.350	0.71399	T	10	0.19104081	0.34773	T	0.022255	0.45130	T	0.498	0.78226	0.638	0.77470	0.64802381883	0.64510	0.6109420288198557	0.61026	0.124345642986	0.14002	0.704861760139	0.67848	T	0.308895	0.68096	T	0.0216646	0.54607	T	0.222965	0.84324	D	0.0878402663427369	0.10959	T	0.89751	0.64163	D	0.44743386	0.63879	0.36949426	0.62218	0.44743386	0.63879	0.36949426	0.62218	-8.152	0.62101	D	0.34720984758349843	0.44465	0.2	0.42361	B	.	.	3.741146	0.53572	23.4	0.99474427690680556	0.66525	0.98626	0.84855	D	AEFBI	0.943100	0.94852	D	0.357017464991941	0.59112	4.087909	0.488150366090404	0.67205	5.052767	0.999999999280968	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.57	5.57	0.84021	7.896000	0.85926	7.701000	0.66289	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.907	0.97012	758	0.50837	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.005051	0.005435	0.011696	0.000000	0.008621	0.003049	0.007576	0.07143	210.53	29	chr11	22272895	.	C	G	210.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=203;ExcessHet=0;FS=1.475;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.58;ReadPosRankSum=-0.218;SOR=1.148	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1059	6	0	1	0
chr11	26598961	26598961	C	T	exonic	ANO3	.	nonsynonymous SNV	ANO3:NM_001313727:exon13:c.C1196T:p.T399I,ANO3:NM_031418:exon16:c.C1634T:p.T545I,ANO3:NM_001313726:exon17:c.C1817T:p.T606I	Dystonia 24, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00865721240318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.421e-06	3.42e-06	5.445e-06	1.375e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.475	0.08359	T	0.63	0.08189	T	0.146	0.27821	B	0.063	0.27082	B	0.004106	0.34102	N	0.352991	0.880624	0.28055	N	-0.525	0.02545	N	0.07	0.61677	T	-0.95	0.25332	N	0.244	0.27792	-1.0459	0.15563	T	0.065	0.27017	T	10	0.124753684	0.23698	T	0.008657	0.22878	T	0.063	0.18251	0.43	0.47843	0.276482976112	0.27267	0.7533983401441656	0.75286	0.986908435057	0.73940	0.391129374504	0.23829	T	0.069586	0.37596	T	-0.162764	0.26337	T	-0.471575	0.25346	T	0.377617359161377	0.28091	T	0.90391	0.66280	D	0.11736485	0.27670	0.10411475	0.24999	0.11736485	0.27670	0.10411475	0.24998	-7.016	0.54368	T	0.12096986198066467	0.11431	0.143	0.35788	B	.;.;.	.;.;.	2.578380	0.33423	19.34	0.90491871051477035	0.19748	0.89838	0.50566	D	AEFDBI	0.329638	0.42992	N	-0.733008527993336	0.15099	0.7579739	-0.58304126069881	0.19935	1.071822	0.114052519703219	0.16723	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.07	-1.34	0.08665	2.407000	0.44219	0.833000	0.21967	0.599000	0.40250	0.999000	0.42656	0.000000	0.08366	0.998000	0.85391	0.0:0.1731:0.7558:0.0711	16.942	0.86092	816	0.41767	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1083.53	34	chr11	26598961	.	C	T	1083.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.132;DP=271;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=0.798;SOR=0.711	GT:AD:DP:GQ:PL	0/1:48,46:94:99:1094,0,1149	6	0	1	0
chr11	32933147	32933147	A	C	exonic	QSER1	.	nonsynonymous SNV	QSER1:NM_001076786:exon4:c.A1889C:p.N630T	.	426	1073	23	0	0	23	0.010604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0050	0.00319489	0.0082	0.0010	0.0029	0	0.0035	0.0100	0.0089	0.0148	0.0078136	1208	154602	rs200945717	0.0078	0.0078	0.0075	0.0082	0.0147	0.0077	0.0077	0.0140	0.0138	0.0010	0.0017	0.0440	5.039e-05	0.0040	0.0054	0.0074	0.0083	0.0147	0.0053	0.0054	0.0055	0.0052	0.0127	0.0050	0.0049	0.0101	0.0092	0.0011	0	0.0017	0.0447	0	0.0041	0.0034	0.0069	0.0047	0.0127	0.012	0.54683	D	0.793	0.04155	T	0.666	0.41077	P	0.115	0.31843	B	0.001150	0.40056	N	0.165190	0.890284	0.37002	D	2.295	0.65404	M	2.24	0.17923	T	-0.81	0.22294	N	0.247	0.27910	-1.0399	0.17343	T	0.060	0.25018	T	10	0.0028826594	0.00046	T	.	.	.	0.054	0.15330	.	.	0.102598925029	0.09809	0.29913251020922527	0.29826	0.0947004961836	0.10699	0.479451686144	0.35980	T	0.003077	0.02473	T	-0.489168	0.00657	T	-0.462459	0.26331	T	0.0239556581017881	0.01139	T	0.852615	0.53799	D	0.058677845	0.11834	0.082112774	0.18716	0.058677845	0.11834	0.082112774	0.18716	-2.139	0.03755	T	.	.	0.087	0.15564	B	.;.	.;.	1.802649	0.22914	15.81	0.99264736632263106	0.57356	0.94374	0.60962	D	AEFBI	0.358071	0.44888	N	-0.00559567196082522	0.41602	2.491293	0.0263182099775093	0.40942	2.45146	0.0079279909542356	0.11573	0.706548	0.73137	0	0.653731	0.59785	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.74	2.38	0.28415	3.226000	0.50956	4.066000	0.41626	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.834:0.0:0.166:0.0	8.830	0.34235	492	0.76569	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.002717	0.000000	0.000000	0.025862	0.012195	0.026515	0.07143	2598.44	56	chr11	32933147	.	A	C	2598.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.934;DP=624;ExcessHet=0;FS=1.033;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-2.762;SOR=0.631	GT:AD:DP:GQ:PL	0/1:115,107:222:99:2609,0,3056	6	0	1	0
chr11	33085948	33085948	G	A	exonic	CSTF3	.	nonsynonymous SNV	CSTF3:NM_001326:exon19:c.C1837T:p.P613S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.018622287866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.455e-06	1.231e-05	1.432e-06	1.48e-06	1.865e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.865e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.0	0.92824	D	0.991	0.64070	D	0.962	0.70672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.015	0.55033	M	.	.	.	-6.31	0.90812	D	0.525	0.55453	-0.4215	0.71343	T	0.412	0.75992	T	8	0.9084526	0.90210	D	0.018622	0.40743	T	0.385	0.70194	0.826	0.93721	0.511911713033	0.50833	0.885045201905812	0.88473	2.47938944519	0.97530	0.844974219799	0.88853	D	0.520901	0.83243	D	0.10266	0.64579	D	-0.0903126	0.64138	T	0.99573141336441	0.87972	D	0.960904	0.86380	D	0.54860973	0.69878	0.59958357	0.76740	0.54860973	0.69879	0.59958357	0.76741	-5.785	0.44443	T	.	.	0.983	0.91815	P	.;.	.;.	5.094266	0.85087	28.5	0.99882518470572146	0.95813	0.99420	0.95802	D	AEFBI	0.878547	0.80389	D	0.859076414803033	0.89619	10.04646	0.8834401244028	0.94808	13.06098	0.999999999990392	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	9.806000	0.98257	11.894000	0.99172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	20.879	0.99870	537	0.73184	Suppressor of forked;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	278.83	35	chr11	33085948	.	G	A	278.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.387;DP=261;ExcessHet=0;FS=59.916;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.89;ReadPosRankSum=0.869;SOR=5.279	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	6	0	1	0
chr11	33085953	33085953	G	A	exonic	CSTF3	.	nonsynonymous SNV	CSTF3:NM_001326:exon19:c.C1832T:p.P611L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.0396852524191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.326e-05	6.43e-05	1.157e-05	1.503e-05	6.053e-05	8.29e-06	6.84e-06	2.012e-05	1.152e-05	0	3.446e-05	4.916e-05	0	0	0	1.035e-05	1.79e-05	6.053e-05	6.62e-06	1.317e-05	1.292e-05	0	2.439e-05	0	0	.	.	2.439e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.004	0.74150	D	0.874	0.48047	P	0.828	0.59497	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.365	0.68172	M	.	.	.	-7.33	0.94566	D	0.652	0.66272	-0.1073	0.79931	T	0.505	0.81344	D	8	0.95427924	0.94780	D	0.039685	0.58951	D	0.486	0.77464	0.873	0.96477	0.54507417769	0.54161	0.684483676958743	0.68387	1.74875396502	0.90984	0.900665163994	0.96514	D	0.370097	0.73469	T	0.196326	0.73549	D	0.0442322	0.73204	D	0.996447443962097	0.89358	D	0.967803	0.88985	D	0.7057624	0.78373	0.7466418	0.85024	0.7057624	0.78374	0.7466418	0.85025	-9.063	0.68102	D	.	.	0.945	0.86433	P	.;.	.;.	5.400781	0.90444	31	0.99879928330334211	0.95653	0.99474	0.96475	D	AEFBI	0.884655	0.81451	D	0.869130109929946	0.90168	10.28302	0.885875043347139	0.94926	13.16032	0.999999999979658	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	9.806000	0.98257	11.894000	0.99172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.557	0.99307	537	0.73184	Suppressor of forked;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	295.46	43	chr11	33085953	.	G	A	295.46	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.694;DP=294;ExcessHet=0;FS=113.311;MLEAC=2;MLEAF=0.333;MQ=60;MQRankSum=0;QD=5.28;ReadPosRankSum=0.467;SOR=6.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:61,8:69:44:0|1:33085953_G_A:0,44,1982:33085953	2	0	1	4
chr11	35229168	35229168	T	C	exonic	CD44	.	nonsynonymous SNV	CD44:NM_001001392:exon4:c.T301C:p.W101R	.	423	1093	4	2	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	.	0.0109824	0.0051	0.0003	0.0002	0	0	0	0.0055	0.0368	0.0044825	693	154602	rs376706979	0.0022	0.0022	0.0012	0.0032	0.0357	0.0021	0.0021	0.0347	0.0342	0.0002	0.0001	3.826e-05	0	0	0.0003	4.497e-06	0.0019	0.0357	0.0012	0.0012	0.0008	0.0017	0.0367	0.0011	0.0010	0.0323	0.0306	0.0001	0	0.0001	0	0	0	0	2.94e-05	0.0005	0.0367	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.51	0.55439	T	0.62	0.02442	N	0.292	0.33030	-1.0436	0.16236	T	0.105	0.38440	T	8	0.0019601583	0.00027	T	.	.	.	0.047	0.12962	0.523	0.62668	0.134241683229	0.13084	.	.	.	.	.	.	.	.	.	.	-0.324571	0.06531	T	-0.211138	0.53585	T	0.0245918739499235	0.01220	T	0.176482	0.01711	T	.	.	.	.	.	.	.	.	-1.943	0.02973	T	.	.	0.615	0.69489	P	.	.	0.461687	0.08312	5.062	0.85598953652733556	0.15993	0.63222	0.32022	D	AEFBCI	0.083500	0.16916	N	-0.563299028688092	0.20069	1.055225	-0.469157911646324	0.23008	1.252589	0.999629252802391	0.41093	0.706298	0.61202	0	0.697927	0.68747	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.03	1.06	0.19341	0.617000	0.24053	-1.857000	0.04601	-0.120000	0.14102	1.000000	0.71638	0.000000	0.08366	0.944000	0.48669	0.1554:0.2921:0.0:0.5525	4.820	0.12749	820	0.40914	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	784.63	27	chr11	35229168	.	T	C	784.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.355;DP=197;ExcessHet=0;FS=2.868;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.06;ReadPosRankSum=-2.077;SOR=1.41	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1211	6	0	1	0
chr11	35317442	35317442	C	T	exonic	SLC1A2	.	nonsynonymous SNV	SLC1A2:NM_004171:exon2:c.G92A:p.R31Q,SLC1A2:NM_001195728:exon3:c.G65A:p.R22Q,SLC1A2:NM_001252652:exon3:c.G65A:p.R22Q	Epileptic encephalopathy, early infantile, 41, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1624941	Inborn_genetic_diseases|SLC1A2-related_disorder|Developmental_and_epileptic_encephalopathy,_41|not_provided	MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0014916,MedGen:C4310717,OMIM:617105|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.051	0.0120269713744	7.7e-05	.	0.0003	0	0.0004	0	0	0.0004	0	0	0.0002393	37	154602	rs199599866	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0005	0.0005	0.0001	0.0007	0	0	1.873e-05	0.0002	0.0002	0.0002	0	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	9.621e-05	0	0.0003	0	0	0	0	0.0003	0.0005	0	0.191	0.31235	T	0.475	0.13290	T	0.002	0.09854	B	0.001	0.04355	B	0.000293	0.46274	D	0.186065	0.985399	0.24714	N	1.155	0.29575	L	0.45	0.56446	T	-0.21	0.14193	N	0.268	0.30347	-1.0491	0.14649	T	0.070	0.28445	T	10	0.038514853	0.02275	T	0.012027	0.30231	T	0.051	0.14325	.	.	0.447772084918	0.44398	0.3825734113879239	0.38172	0.628665256713	0.56926	0.283784985542	0.08026	T	0.214897	0.57661	T	-0.439545	0.01301	T	-0.507242	0.21599	T	0.0498256637834116	0.05469	T	0.843416	0.53011	T	0.044650827	0.07173	0.052192256	0.08550	0.044650827	0.07172	0.052192256	0.08550	-4.472	0.30823	T	.	.	0.068	0.05103	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.121831	0.27008	17.32	0.99066183943336439	0.51598	0.45333	0.27515	N	AEFDBI	0.124857	0.24110	N	-0.691767791685156	0.16255	0.8265394	-0.508777413967918	0.21914	1.187768	0.997886547716542	0.36150	0.487112	0.14033	0	0.491513	0.07743	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.94	3.07	0.34476	0.782000	0.26449	1.793000	0.28816	-0.187000	0.09635	0.589000	0.27658	0.908000	0.28083	0.275000	0.23893	0.0:0.77:0.0:0.23	9.298	0.36988	603	0.67726	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	375.44	34	chr11	35317442	.	C	T	375.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.711;DP=233;ExcessHet=0;FS=1.184;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.53;ReadPosRankSum=-0.154;SOR=0.615	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr11	36081727	36081727	C	T	exonic	LDLRAD3	.	nonsynonymous SNV	LDLRAD3:NM_001304263:exon2:c.C121T:p.R41W,LDLRAD3:NM_174902:exon3:c.C268T:p.R90W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.704	0.151399969727	7.7e-05	.	3.295e-05	9.61e-05	0	0	0	4.496e-05	0	0	2.59e-05	4	154602	rs150528116	8.893e-06	8.893e-06	1.089e-05	6.875e-06	0.0002	4.96e-06	3.82e-06	2.375e-05	1.258e-05	8.961e-05	0	0	0	0	0.0002	7.194e-06	0	1.159e-05	1.314e-05	1.313e-05	2.569e-05	0	4.827e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.019	0.62352	D	0.998	0.73220	D	0.786	0.57542	P	0.000033	0.55875	D	0.119843	0.99845	0.44939	D	1.83	0.48079	L	-3.87	0.95922	D	-6.31	0.90812	D	0.703	0.70702	0.976	0.96795	D	0.906	0.96869	D	10	0.8781126	0.87111	D	0.151	0.83296	D	0.704	0.89376	.	.	0.92121323827	0.92041	0.7384707591224909	0.73792	0.656936052451	0.58672	0.481767177582	0.36300	T	0.591855	0.86791	D	0.0885904	0.63029	D	0.126146	0.78639	D	0.930612206459045	0.59543	D	0.938306	0.78180	D	0.6714732	0.76511	0.6300697	0.78422	0.6714732	0.76512	0.6300697	0.78423	-10.458	0.79012	D	.	.	0.447	0.78883	A	.;.;.	.;.;.	5.530069	0.91865	32	0.99932630733970518	0.99439	0.96471	0.69303	D	AEFGBI	0.783861	0.71472	D	0.733150028040288	0.81804	7.609071	0.715647168678387	0.83566	8.055639	0.999725407489171	0.42220	0.706548	0.73137	0	0.588015	0.36545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.95	5.01	0.66477	3.827000	0.55445	2.652000	0.33822	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.810000	0.38174	0.2519:0.7481:0.0:0.0	14.849	0.69917	949	0.11373	.;Low-density lipoprotein (LDL) receptor class A, conserved site;Low-density lipoprotein (LDL) receptor class A, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	226.44	37	chr11	36081727	.	C	T	226.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.621;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.17;ReadPosRankSum=-0.78;SOR=0.399	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	6	0	1	0
chr11	36574877	36574877	C	T	exonic	RAG1	.	nonsynonymous SNV	RAG1:NM_000448:exon2:c.C1573T:p.P525S,RAG1:NM_001377280:exon2:c.C1573T:p.P525S,RAG1:NM_001377279:exon3:c.C1573T:p.P525S,RAG1:NM_001377278:exon4:c.C1573T:p.P525S,RAG1:NM_001377277:exon5:c.C1573T:p.P525S	Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity;Combined cellular and humoral immune defects with granulomas, Autosomal recessive;Omenn syndrome, Autosomal recessive;Severe combined immunodeficiency, B cell-negative, Autosomal recessive	0	1516	4	2	0	8	0.00263158	.	.	.	712815	Recombinase_activating_gene_1_deficiency|Severe_combined_immunodeficiency,_autosomal_recessive,_T_cell-negative,_B_cell-negative,_NK_cell-positive|Combined_immunodeficiency_with_skin_granulomas|not_provided	MONDO:MONDO:0000572,MedGen:CN375631|MONDO:MONDO:0011086,MedGen:C1832322,OMIM:601457,Orphanet:331206|MONDO:MONDO:0009306,MedGen:C2673536,OMIM:233650,Orphanet:157949|MedGen:C3661900	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.553	.	.	0.00399361	0.0027	0	0	0.0021	0	1.499e-05	0.0033	0.0187	0.0023803	368	154602	rs4151032	0.0012	0.0012	0.0007	0.0017	0.0174	0.0011	0.0011	0.0166	0.0163	2.987e-05	8.944e-05	0	0.0030	0	0.0007	1.169e-05	0.0012	0.0174	0.0007	0.0007	0.0004	0.0010	0.0151	0.0006	0.0006	0.0123	0.0113	4.809e-05	0	6.532e-05	0	0.0052	0	0	2.94e-05	0.0014	0.0151	0.001	0.78490	D	0.021	0.58089	D	0.999	0.77913	D	0.997	0.86255	D	0.000239	0.47286	D	0.185258	0.999591	0.47742	D	2.685	0.78553	M	-2.27	0.87433	D	-2.57	0.55501	D	0.387	0.42834	0.588	0.91745	D	0.725	0.90579	D	10	0.012039036	0.00260	T	.	.	.	0.553	0.81544	.	.	0.961614117143	0.96120	0.5594229088264151	0.55869	0.748255062631	0.63626	0.408331096172	0.26226	T	0.793851	0.94672	D	-0.203621	0.20283	T	-0.0509838	0.66955	D	0.0645179933070026	0.07860	T	0.947205	0.79675	D	0.34595656	0.56750	0.44811073	0.67867	0.34595656	0.56750	0.44811073	0.67867	-3.073	0.10988	T	0.3910648655729011	0.48424	0.153	0.33868	B	.	.	4.083378	0.60759	24.3	0.99874962298255687	0.95244	0.89968	0.50788	D	AEFBI	0.273089	0.38857	N	0.758486132562788	0.83457	8.022358	0.709641884012384	0.83111	7.936731	0.999997679012887	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.58	4.63	0.57175	4.078000	0.57327	4.032000	0.41347	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.974000	0.55675	0.136:0.864:0.0:0.0	15.879	0.78971	484	0.77165	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	2272.44	42	chr11	36574877	.	C	T	2272.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.029;DP=516;ExcessHet=0;FS=5.327;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.323;SOR=0.91	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1014	6	0	1	0
chr11	40116285	40116285	T	G	exonic	LRRC4C	.	nonsynonymous SNV	LRRC4C:NM_020929:exon5:c.A8C:p.N3T,LRRC4C:NM_001258419:exon7:c.A8C:p.N3T	.	428	1078	16	0	0	16	0.00736648	.	.	.	3212752	LRRC4C-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.195	0.0235054350127	0.0024	0.00199681	0.0026	0	0.0014	0	0.0003	0.0038	0.0035	0.0023	0.002652	410	154602	rs144974170	0.0034	0.0034	0.0034	0.0035	0.0071	0.0033	0.0033	0.0053	0.0047	0.0006	0.0018	0.0036	0	0.0004	0.0071	0.0038	0.0041	0.0025	0.0025	0.0025	0.0025	0.0025	0.0037	0.0023	0.0022	0.0033	0.0032	0.0007	0.0230	0.0026	0.0040	0	0.0002	0.0102	0.0037	0.0043	0.0025	0.0	0.91255	D	0.0	0.92824	D	0.947	0.53479	P	0.727	0.55167	P	0.000001	0.84330	D	0.053882	0.999953	0.52396	D	1.39	0.34934	L	0.42	0.56937	T	-0.09	0.89534	N	0.714	0.73015	-0.8007	0.55103	T	0.137	0.45394	T	10	0.008387715	0.00190	T	0.023505	0.46474	T	0.195	0.47612	.	.	0.293707238958	0.28979	0.581826371327186	0.58111	1.70255623673	0.90341	0.789652109146	0.80390	T	0.047222	0.27658	T	-0.319918	0.06905	T	-0.231913	0.51587	T	0.0550466619877694	0.06364	T	0.791221	0.43226	T	0.39905316	0.60666	0.41884845	0.65896	0.39905316	0.60667	0.41884845	0.65896	-2.874	0.08886	T	.	.	0.111	0.48715	B	.;.;.;.;.;.	.;.;.;.;.;.	4.519201	0.70844	25.6	0.99595501067307068	0.73866	0.98159	0.80110	D	AEFBI	0.935509	0.93047	D	0.571494797106875	0.71401	5.645158	0.639552788728443	0.77837	6.756512	0.991222192547175	0.32415	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.76	5.76	0.90726	7.674000	0.83146	7.936000	0.75280	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.243	0.73179	942	0.12992	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004541	0.000000	0.001359	0.000000	0.000000	0.008621	0.012195	0.007576	0.07143	1258.48	40	chr11	40116285	.	T	G	1258.48	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.79;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=-0.098;SOR=0.767	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr11	43436173	43436173	A	G	exonic	TTC17	.	nonsynonymous SNV	TTC17:NM_001376528:exon12:c.A1592G:p.H531R,TTC17:NM_001307943:exon17:c.A2261G:p.H754R,TTC17:NM_001376525:exon17:c.A2261G:p.H754R	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.0144163855573	.	0.000798722	0.0003	0	0	0	0	0	0	0.0035	7.12e-05	11	154602	rs540505264	9.219e-05	0.0001	6.105e-05	0.0001	0.0018	7.812e-05	7.321e-05	0.0015	0.0014	0	0.0001	0	0	0	0.0010	1.087e-05	0.0001	0.0018	5.909e-05	5.906e-05	3.856e-05	8.054e-05	0.0017	3.075e-05	2.209e-05	0.0008	0.0006	0	0	0	0	0	0	0	1.47e-05	0	0.0017	0.83	0.02884	T	0.645	0.06859	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.57	0.29342	T	-0.27	0.11366	N	0.318	0.35832	-1.0816	0.07041	T	0.049	0.21065	T	8	0.008453369	0.00192	T	0.014416	0.34525	T	0.038	0.09825	0.32	0.29902	0.373217324921	0.36936	.	.	.	.	.	.	.	.	.	.	-0.440116	0.01291	T	-0.418203	0.31281	T	0.0965327955720797	0.11971	T	0.662834	0.27173	T	.	.	.	.	.	.	.	.	-2.967	0.09830	T	.	.	0.069	0.02960	B	.	.	3.279509	0.44925	22.0	0.94619580211995091	0.25197	0.94238	0.60535	D	AEFBI	0.481248	0.52262	N	-0.109816194374459	0.36965	2.143897	0.0700186371695549	0.43050	2.614832	0.53268158561005	0.21188	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	4.065000	0.57229	8.091000	0.76520	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	13.922	0.63442	351	0.85421	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1143.27	40	chr11	43436173	.	A	G	1143.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.981;DP=266;ExcessHet=0;FS=1.861;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=-1.994;SOR=0.983	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1242	5	0	1	1
chr11	44067769	44067769	C	T	exonic	ACCS	.	nonsynonymous SNV	ACCS:NM_001127219:exon2:c.C142T:p.R48C,ACCS:NM_032592:exon2:c.C142T:p.R48C	.	419	1100	2	1	0	4	0.00181488	.	.	.	2350854	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.108	0.00918871780325	7.7e-05	.	0.0001	9.612e-05	8.642e-05	0	0	5.994e-05	0	0.0004	9.06e-05	14	154602	rs150220771	9.098e-05	9.166e-05	6.942e-05	0.0001	0.0007	7.823e-05	7.305e-05	0.0006	0.0005	2.987e-05	0	0	2.519e-05	0	0	5.665e-05	8.279e-05	0.0007	7.224e-05	7.218e-05	2.57e-05	0.0001	0.0012	3.969e-05	3.126e-05	0.0005	0.0004	7.22e-05	0	0	0	0	0	0	2.941e-05	0	0.0012	0.179	0.22660	T	0.184	0.29740	T	0.0	0.02946	B	0.0	0.01387	B	0.276894	0.03808	N	1.423220	1	0.08975	N	0.345	0.11182	N	0.94	0.59983	T	-1.02	0.40082	N	0.091	0.06990	-1.0374	0.18109	T	0.073	0.29515	T	10	0.026726931	0.00833	T	0.009189	0.24154	T	0.108	0.30607	.	.	0.128392430309	0.12331	0.14268493803846982	0.14191	0.123530589542	0.13904	0.213493555784	0.00968	T	0.009466	0.34344	T	-0.372781	0.03456	T	-0.409088	0.32330	T	0.0201622111098684	0.00716	T	0.638636	0.25202	T	0.045533475	0.07468	0.032524955	0.02001	0.045533475	0.07468	0.032524955	0.02001	-4.604	0.32222	T	.	.	0.073	0.05060	B	.;.;.	.;.;.	1.640141	0.20931	14.98	0.74503584100931997	0.10720	0.00575	0.02600	N	AEFDBCI	0.032389	0.03648	N	-1.21947310788465	0.04718	0.2135322	-1.14530116441012	0.06853	0.3312779	0.999962120717287	0.48965	0.676563	0.55306	0	0.672317	0.65289	0	0.673471	0.61138	0	0.655142	0.61905	0	.	.	5.57	1.98	0.25351	0.240000	0.17822	0.083000	0.14415	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.072000	0.16771	0.141:0.1774:0.0:0.6816	4.837	0.12831	906	0.23090	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1455.49	39	chr11	44067769	.	C	T	1455.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.81;DP=461;ExcessHet=0;FS=6.249;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=-0.095;SOR=0.743	GT:AD:DP:GQ:PL	0/0:91,0:91:99:0,120,1800	6	0	1	0
chr11	44618328	44618328	G	A	exonic	CD82	.	nonsynonymous SNV	CD82:NM_001024844:exon7:c.G530A:p.S177N,CD82:NM_002231:exon8:c.G605A:p.S202N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.0330163762235	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1229038645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.502	0.47745	T	0.304	0.48594	T	0.023	0.18885	B	0.008	0.13708	B	0.001536	0.00796	N	6.849600	0.999976	0.18612	N	0.98	0.24916	L	-1.23	0.78860	T	-0.77	0.27463	N	0.241	0.31478	-0.9682	0.37571	T	0.335	0.70190	T	10	0.12190327	0.23118	T	0.033016	0.54684	D	0.188	0.46444	0.516	0.61611	0.778414144424	0.77637	0.4047954542806751	0.40395	0.203011207394	0.22717	0.310126125813	0.11925	T	0.243438	0.61237	T	-0.153491	0.27767	T	-0.458256	0.26790	T	0.115444271917285	0.13979	T	0.677032	0.28590	T	0.042503465	0.06457	0.049761225	0.07671	0.042503465	0.06457	0.049761225	0.07670	-4.544	0.31460	T	.	.	0.089	0.24733	B	.;.;.	.;.;.	-0.110432	0.03581	0.696	0.95982419840644806	0.28363	0.08443	0.14371	N	AEFBCI	0.363754	0.45253	N	-0.900667261894326	0.10827	0.5193166	-0.973949604269055	0.10372	0.5219953	0.988386887905631	0.31499	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.86	0.18	0.14352	-0.637000	0.05556	-1.105000	0.06316	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0947:0.3103:0.436:0.159	3.415	0.06945	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	874.63	34	chr11	44618328	.	G	A	874.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.874;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=-0.635;SOR=0.606	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr11	44938231	44938231	G	A	exonic	TP53I11	.	nonsynonymous SNV	TP53I11:NM_001318388:exon2:c.C5T:p.T2M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	0.000199681	0.0005	0	0	0.0039	0	9.912e-05	0	0.0012	0.0003816	59	154602	rs564424905	0.0002	0.0002	0.0002	0.0002	0.0030	0.0002	0.0002	0.0025	0.0024	5.979e-05	2.241e-05	0	0.0030	0	0.0005	5.397e-05	0.0002	0.0011	0.0002	0.0002	8.998e-05	0.0002	0.0029	0.0001	9.239e-05	0.0018	0.0015	0	0	0	0	0.0029	0	0	1.471e-05	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	2723.65	33	chr11	44938231	.	G	A	2723.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.51;DP=397;ExcessHet=0.3476;FS=0.978;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=-0.299;SOR=0.61	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1310	5	0	2	0
chr11	45902506	45902506	C	T	exonic	MAPK8IP1	.	nonsynonymous SNV	MAPK8IP1:NM_005456:exon5:c.C739T:p.P247S	.	413	1095	14	0	0	14	0.00635209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	.	0.0073	0.00319489	0.0099	0.0030	0.0049	0.0002	0.0210	0.0129	0.0098	0.0075	0.006811	1053	154602	rs117665789	0.0095	0.0095	0.0096	0.0095	0.0107	0.0094	0.0093	0.0106	0.0105	0.0016	0.0049	0.0016	0.0001	0.0100	0.0036	0.0107	0.0083	0.0071	0.0069	0.0069	0.0070	0.0068	0.0101	0.0065	0.0064	0.0095	0.0092	0.0022	0.0209	0.0058	0.0020	0	0.0104	0	0.0101	0.0076	0.0058	0.031	0.45039	D	0.616	0.09795	T	0.816	0.45573	P	0.245	0.38823	B	0.000011	0.62929	D	0.065445	0.998496	0.44993	D	1.32	0.33002	L	1.24	0.36691	T	-0.62	0.18248	N	0.343	0.42050	-1.1029	0.03758	T	0.044	0.19111	T	10	0.004411131	0.00090	T	.	.	.	0.117	0.32689	.	.	0.368021343446	0.36418	0.1638190692086197	0.16301	1.23262236702	0.81394	0.584953010082	0.50783	T	0.250764	0.62091	T	-0.541355	0.00329	T	-0.541	0.18198	T	0.0128702646338869	0.00220	T	0.693531	0.30321	T	0.11472272	0.27081	0.11416077	0.27556	0.10529684	0.24894	0.11416077	0.27556	-4.158	0.26141	T	.	.	0.081	0.08033	B	.;.	.;.	3.150523	0.42647	21.6	0.99693363987309003	0.80112	0.65112	0.32629	D	AEFBCI	0.496552	0.53145	N	-0.0136159726570341	0.41238	2.463142	0.0303879258557061	0.41132	2.466171	0.998126188882572	0.36460	0.695654	0.57023	0	0.550933	0.16991	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.51	4.51	0.54589	4.404000	0.59494	5.809000	0.49993	0.599000	0.40250	0.974000	0.34632	1.000000	0.68203	0.823000	0.38780	0.0:1.0:0.0:0.0	17.771	0.88403	461	0.78683	.;.	.	.	.	.	rs117665789	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002022	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.007576	0.07143	921.44	76	chr11	45902506	.	C	T	921.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.035;DP=269;ExcessHet=0;FS=4.468;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-0.452;SOR=0.51	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1328	6	0	1	0
chr11	46548349	46548349	C	T	exonic	AMBRA1	.	nonsynonymous SNV	AMBRA1:NM_001267782:exon2:c.G32A:p.R11Q,AMBRA1:NM_001267783:exon2:c.G32A:p.R11Q,AMBRA1:NM_001300731:exon2:c.G32A:p.R11Q,AMBRA1:NM_001367468:exon2:c.G32A:p.R11Q,AMBRA1:NM_001367469:exon2:c.G32A:p.R11Q,AMBRA1:NM_001367471:exon2:c.G32A:p.R11Q,AMBRA1:NM_017749:exon2:c.G32A:p.R11Q	.	.	.	.	.	.	.	.	.	.	.	2278231	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.373	0.0388685820144	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1451283340	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.048	0.49117	D	0.118	0.92824	T	0.999	0.90584	D	0.836	0.62698	P	0.000000	0.84330	D	0.053187	0.99996	0.58761	D	1.24	0.30952	L	-0.38	0.70950	T	-1.24	0.74051	N	0.807	0.81459	-0.2871	0.75345	T	0.410	0.75901	T	10	0.49264818	0.61083	T	0.038869	0.58476	D	0.373	0.69188	0.472	0.54699	0.654682062541	0.65180	0.5280322351273035	0.52727	0.637166113982	0.57465	0.843075990677	0.88563	D	0.02454	0.51784	T	0.182603	0.72281	D	0.0245201	0.71921	D	0.834164142608643	0.48858	D	0.962104	0.85685	D	0.28087258	0.51133	0.17582333	0.40074	0.28087258	0.51133	0.17582333	0.40074	-8.864	0.67070	D	.	.	0.195	0.41602	B	.;.;.;.;.;.	.;.;.;.;.;.	4.663392	0.74453	26.2	0.99898129021029591	0.97048	0.96765	0.70819	D	AEFBI	0.618405	0.60422	D	0.582761073055049	0.72098	5.752697	0.639522266642219	0.77833	6.756099	0.999999787070122	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.94	5.94	0.96165	4.293000	0.58834	7.660000	0.64180	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.359	0.98850	0	0.99858	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	566.53	34	chr11	46548349	.	C	T	566.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.686;DP=216;ExcessHet=0;FS=2.614;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.317;SOR=0.379	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1139	6	0	1	0
chr11	46867995	46867995	C	T	exonic	LRP4	.	nonsynonymous SNV	LRP4:NM_002334:exon34:c.G5071A:p.E1691K	Cenani-Lenz syndactyly syndrome, Autosomal recessive;Sclerosteosis 2, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	796595	Sclerosteosis_2|Cenani-Lenz_syndactyly_syndrome|Congenital_myasthenic_syndrome_17|not_provided	MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305,Orphanet:3152|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780,Orphanet:3258|MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304,Orphanet:590|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.537	0.0901628027282	.	0.000399361	0.0003	0	0	0	0	0	0	0.0024	0.0002846	44	154602	rs528376810	0.0002	0.0002	9.937e-05	0.0003	0.0032	0.0002	0.0002	0.0028	0.0027	0	0	0	0	0	0	0	9.935e-05	0.0032	0.0001	0.0001	5.139e-05	0.0002	0.0033	7.086e-05	5.744e-05	0.0021	0.0017	0	0	0	0	0	0	0	0	0.0005	0.0033	0.053	0.38863	T	0.315	0.19421	T	0.956	0.54666	P	0.899	0.63802	P	0.000003	0.62929	D	0.061070	0.997969	0.44365	D	0.69	0.16971	N	-2.55	0.89561	D	-0.41	0.14000	N	0.416	0.45615	0.047	0.83184	D	0.624	0.86784	D	10	0.0131136775	0.00279	T	0.090163	0.75465	D	0.537	0.80605	0.452	0.51448	0.767477865542	0.76535	0.6971593771118743	0.69656	0.619520021413	0.56296	0.539111912251	0.44319	T	0.118859	0.43997	T	-0.112313	0.34385	T	0.0622157	0.74393	D	0.174241217717248	0.18864	T	0.916408	0.70110	D	0.1277867	0.29893	0.14730428	0.34864	0.1277867	0.29893	0.14730428	0.34864	-4.907	0.35814	T	.	.	0.080	0.07841	B	.	.	2.688448	0.35084	19.80	0.99650465480096218	0.77254	0.95102	0.63445	D	AEFBI	0.646858	0.62224	D	0.284269770582924	0.55349	3.699189	0.330657425378424	0.57349	3.900303	0.978109000678624	0.29887	0.732398	0.92422	0	0.627178	0.54094	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	5.71	5.71	0.89031	4.506000	0.60148	3.345000	0.37739	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.855000	0.40485	0.0:1.0:0.0:0.0	17.003	0.86258	13	0.98894	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	349.46	34	chr11	46867995	.	C	T	349.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.572;DP=214;ExcessHet=0;FS=2.987;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=1.27;SOR=0.478	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1126	6	0	1	0
chr11	47248826	47248826	C	T	exonic	NR1H3	.	nonsynonymous SNV	NR1H3:NM_001251934:exon2:c.C23T:p.P8L,NR1H3:NM_001251935:exon2:c.C23T:p.P8L	.	1	1510	9	2	0	13	0.00428619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00279553	0.0066	0	0.0017	0.0011	0	0	0.0111	0.0156	0.0013519	209	154602	rs535532913	0.0008	0.0009	0.0005	0.0012	0.0142	0.0008	0.0008	0.0135	0.0132	3.113e-05	0	0	0	0	0.0005	4.618e-06	0.0008	0.0142	0.0005	0.0005	0.0002	0.0007	0.0141	0.0004	0.0004	0.0114	0.0104	7.216e-05	0	0	0	0	0	0	1.47e-05	0.0005	0.0141	.	.	.	0.345	0.17750	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999673	0.20721	N	.	.	.	.	.	.	.	.	.	0.152	0.15609	.	.	.	.	.	.	.	0.00372836	0.00069	T	.	.	.	.	.	.	.	0.165150595986	0.16160	0.0896108616886048	0.08894	.	.	.	.	.	0.058304	0.30805	T	-0.457958	0.01012	T	-0.418278	0.31273	T	.	.	.	0.538146	0.18126	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07937	B	.	.	1.414794	0.18307	13.66	0.74885094453248513	0.10864	0.01467	0.04897	N	ALL	.	.	.	.	.	.	.	.	.	1.0	0.98316	0.046548	0.00263	1	0.073863	0.01883	0	0.024116	0.00154	2	0.054758	0.00131	0	0.172439	0.29025	5.69	1.66	0.23081	0.531000	0.22759	-0.018000	0.12964	-0.190000	0.09434	0.025000	0.20085	0.000000	0.08366	0.013000	0.09966	0.0:0.6331:0.1376:0.2293	5.937	0.18408	23	0.98420	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1595.63	25	chr11	47248826	.	C	T	1595.63	.	AC=2;AF=0.143;AN=14;DP=203;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=32.56;SOR=1.609	GT:AD:DP:GQ:PL	0/0:41,0:41:90:0,90,1350	6	1	0	0
chr11	47315257	47315257	G	A	exonic	MADD	.	nonsynonymous SNV	MADD:NM_001376663:exon25:c.G3464A:p.R1155Q,MADD:NM_001376611:exon26:c.G4028A:p.R1343Q,MADD:NM_001376613:exon26:c.G4016A:p.R1339Q,MADD:NM_001376614:exon26:c.G4016A:p.R1339Q,MADD:NM_001376650:exon26:c.G3887A:p.R1296Q,MADD:NM_001376661:exon26:c.G3821A:p.R1274Q,MADD:NM_001376662:exon26:c.G3674A:p.R1225Q,MADD:NM_001135943:exon27:c.G3998A:p.R1333Q,MADD:NM_001135944:exon27:c.G3989A:p.R1330Q,MADD:NM_001376584:exon27:c.G4130A:p.R1377Q,MADD:NM_001376593:exon27:c.G4118A:p.R1373Q,MADD:NM_001376594:exon27:c.G4118A:p.R1373Q,MADD:NM_001376615:exon27:c.G4001A:p.R1334Q,MADD:NM_001376616:exon27:c.G4001A:p.R1334Q,MADD:NM_001376618:exon27:c.G3989A:p.R1330Q,MADD:NM_001376619:exon27:c.G3989A:p.R1330Q,MADD:NM_001376620:exon27:c.G3989A:p.R1330Q,MADD:NM_001376621:exon27:c.G3989A:p.R1330Q,MADD:NM_001376654:exon27:c.G3857A:p.R1286Q,MADD:NM_130470:exon27:c.G4130A:p.R1377Q,MADD:NM_130472:exon27:c.G4001A:p.R1334Q,MADD:NM_130474:exon27:c.G4001A:p.R1334Q,MADD:NM_130476:exon27:c.G4127A:p.R1376Q,MADD:NM_001376579:exon28:c.G4181A:p.R1394Q,MADD:NM_001376580:exon28:c.G4181A:p.R1394Q,MADD:NM_001376583:exon28:c.G4133A:p.R1378Q,MADD:NM_001376603:exon28:c.G4064A:p.R1355Q,MADD:NM_001376604:exon28:c.G4052A:p.R1351Q,MADD:NM_001376607:exon28:c.G4049A:p.R1350Q,MADD:NM_001376622:exon28:c.G4181A:p.R1394Q,MADD:NM_001376623:exon28:c.G4181A:p.R1394Q,MADD:NM_001376626:exon28:c.G3980A:p.R1327Q,MADD:NM_001376631:exon28:c.G4154A:p.R1385Q,MADD:NM_001376633:exon28:c.G4139A:p.R1380Q,MADD:NM_001376634:exon28:c.G4130A:p.R1377Q,MADD:NM_001376635:exon28:c.G3920A:p.R1307Q,MADD:NM_001376644:exon28:c.G3911A:p.R1304Q,MADD:NM_001376646:exon28:c.G3908A:p.R1303Q,MADD:NM_001376647:exon28:c.G3902A:p.R1301Q,MADD:NM_001376651:exon28:c.G4064A:p.R1355Q,MADD:NM_001376652:exon28:c.G4064A:p.R1355Q,MADD:NM_001376653:exon28:c.G4061A:p.R1354Q,MADD:NM_001376656:exon28:c.G4052A:p.R1351Q,MADD:NM_001376657:exon28:c.G4031A:p.R1344Q,MADD:NM_001376658:exon28:c.G4004A:p.R1335Q,MADD:NM_001376660:exon28:c.G3902A:p.R1301Q,MADD:NM_130471:exon28:c.G4061A:p.R1354Q,MADD:NM_130473:exon28:c.G4190A:p.R1397Q,MADD:NM_001376574:exon29:c.G4253A:p.R1418Q,MADD:NM_001376575:exon29:c.G4247A:p.R1416Q,MADD:NM_001376576:exon29:c.G4235A:p.R1412Q,MADD:NM_001376577:exon29:c.G4235A:p.R1412Q,MADD:NM_001376578:exon29:c.G4208A:p.R1403Q,MADD:NM_001376585:exon29:c.G4115A:p.R1372Q,MADD:NM_001376586:exon29:c.G4112A:p.R1371Q,MADD:NM_001376595:exon29:c.G4106A:p.R1369Q,MADD:NM_001376596:exon29:c.G4313A:p.R1438Q,MADD:NM_001376597:exon29:c.G4106A:p.R1369Q,MADD:NM_001376598:exon29:c.G4106A:p.R1369Q,MADD:NM_001376602:exon29:c.G4088A:p.R1363Q,MADD:NM_001376605:exon29:c.G4253A:p.R1418Q,MADD:NM_001376606:exon29:c.G4250A:p.R1417Q,MADD:NM_001376608:exon29:c.G4244A:p.R1415Q,MADD:NM_001376609:exon29:c.G4241A:p.R1414Q,MADD:NM_001376610:exon29:c.G4235A:p.R1412Q,MADD:NM_001376617:exon29:c.G4112A:p.R1371Q,MADD:NM_001376627:exon29:c.G3962A:p.R1321Q,MADD:NM_001376636:exon29:c.G4124A:p.R1375Q,MADD:NM_001376637:exon29:c.G4124A:p.R1375Q,MADD:NM_001376638:exon29:c.G4121A:p.R1374Q,MADD:NM_001376639:exon29:c.G4121A:p.R1374Q,MADD:NM_001376640:exon29:c.G4118A:p.R1373Q,MADD:NM_001376641:exon29:c.G4115A:p.R1372Q,MADD:NM_001376642:exon29:c.G4112A:p.R1371Q,MADD:NM_001376643:exon29:c.G4112A:p.R1371Q,MADD:NM_001376645:exon29:c.G4106A:p.R1369Q,MADD:NM_001376648:exon29:c.G4091A:p.R1364Q,MADD:NM_001376649:exon29:c.G4091A:p.R1364Q,MADD:NM_001376655:exon29:c.G4052A:p.R1351Q,MADD:NM_001376659:exon29:c.G3962A:p.R1321Q,MADD:NM_001376571:exon30:c.G4307A:p.R1436Q,MADD:NM_001376572:exon30:c.G4295A:p.R1432Q,MADD:NM_001376573:exon30:c.G4295A:p.R1432Q,MADD:NM_001376581:exon30:c.G4166A:p.R1389Q,MADD:NM_001376582:exon30:c.G4166A:p.R1389Q,MADD:NM_001376599:exon30:c.G4295A:p.R1432Q,MADD:NM_001376600:exon30:c.G4295A:p.R1432Q,MADD:NM_001376601:exon30:c.G4295A:p.R1432Q,MADD:NM_001376624:exon30:c.G4178A:p.R1393Q,MADD:NM_001376625:exon30:c.G4178A:p.R1393Q,MADD:NM_001376628:exon30:c.G4175A:p.R1392Q,MADD:NM_001376629:exon30:c.G4166A:p.R1389Q,MADD:NM_001376630:exon30:c.G4166A:p.R1389Q,MADD:NM_001376632:exon30:c.G4139A:p.R1380Q,MADD:NM_003682:exon30:c.G4307A:p.R1436Q,MADD:NM_130475:exon30:c.G4307A:p.R1436Q	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.0198109026063	.	.	7.416e-05	0	0	0	0	7.495e-05	0	0.0002	5.82e-05	9	154602	rs769408216	6.705e-05	6.772e-05	4.765e-05	8.665e-05	0.0024	5.63e-05	5.173e-05	0.0015	0.0012	2.988e-05	2.236e-05	0	0	0	0.0024	4.947e-05	0.0002	0.0002	5.254e-05	5.25e-05	3.856e-05	6.716e-05	0.0002	2.556e-05	1.829e-05	1.972e-05	1.125e-05	0	0	0	0	0	0	0.0034	5.882e-05	0.0009	0.0002	0.001	0.78490	D	0.005	0.92824	D	1.0	0.90584	D	0.948	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.585	0.75554	M	2.9	0.56937	T	-3.63	0.73378	D	0.822	0.93135	-0.3640	0.73144	T	0.337	0.70379	T	10	0.7422017	0.75037	D	0.019811	0.42265	T	0.507	0.78786	0.494	0.58206	0.703228973311	0.70065	0.7397709375703098	0.73922	1.64595255246	0.89467	0.587775468826	0.51180	T	0.223148	0.85290	T	0.147298	0.69014	D	0.210475	0.83689	D	0.590818166732788	0.36038	D	0.993801	0.99062	D	0.6682185	0.76337	0.55477	0.74249	0.6682185	0.76339	0.55477	0.74250	-4.643	0.32892	T	.	.	0.231	0.57585	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.641328	0.92745	33	0.99954943153851039	0.99969	0.96523	0.69565	D	AEFDGBHCI	0.924018	0.90139	D	0.837735621072375	0.88399	9.563798	0.823581689206786	0.91382	10.85879	0.999999999999476	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.29	5.29	0.74430	9.507000	0.96991	11.721000	0.94817	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.942	0.92581	16	0.98727	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002024	0.000000	0.002732	0.002941	0.055556	0.000000	0.003086	0.000000	0.07143	1085.46	39	chr11	47315257	.	G	A	1085.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.49;DP=321;ExcessHet=0;FS=3.261;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.92;ReadPosRankSum=0.251;SOR=1.032	GT:AD:DP:GQ:PL	0/1:89,48:137:99:1096,0,2067	6	0	1	0
chr11	47350595	47350595	C	A	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon3:c.G313T:p.A105S	Cardiomyopathy, dilated, 1MM, Autosomal dominant;Cardiomyopathy, hypertrophic, 4, Autosomal dominant;Left ventricular noncompaction 10, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	640128	Hypertrophic_cardiomyopathy	Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.040	0.035578829257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.944e-06	4.104e-06	1.454e-06	4.472e-06	3.559e-05	6.9e-07	4.7e-07	3.1e-07	1.2e-07	3.559e-05	0	0	0	0	0	1.868e-06	1.784e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.17183	T	0.341	0.18903	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.891078	0.27880	N	0.695	0.17993	N	0.28	0.59037	T	-0.37	0.13226	N	0.065	0.06720	-1.0186	0.24171	T	0.079	0.31254	T	9	0.0782682	0.12454	T	0.035579	0.56436	D	0.040	0.10527	0.255	0.19533	0.402471007487	0.39861	0.18932522840018065	0.18850	0.200046103044	0.22408	0.337147772312	0.16010	T	0.122473	0.44617	T	-0.231032	0.16513	T	-0.569638	0.15482	T	0.111559447020754	0.13584	T	0.518148	0.16784	T	0.039962262	0.05615	0.0691389	0.14528	0.039962262	0.05615	0.0691389	0.14527	-4.625	0.32484	T	.	.	0.108	0.23325	B	.;.;.	.;.;.	0.226280	0.06082	2.524	0.92478229722998961	0.21909	0.18902	0.20448	N	AEFDGBI	0.291870	0.40289	N	-1.04594611530535	0.07667	0.3569547	-1.00329673726857	0.09712	0.4848083	0.973598738975808	0.29469	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.63	2.71	0.31092	-1.261000	0.02964	-0.106000	0.11884	-0.189000	0.09497	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.8733:0.0:0.1267	7.085	0.24434	18	0.98631	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	803.63	38	chr11	47350595	.	C	A	803.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.805;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=0.629;SOR=0.643	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1010	6	0	1	0
chr11	47375701	47375701	G	A	exonic	SPI1	.	nonsynonymous SNV	SPI1:NM_001080547:exon2:c.C77T:p.T26M,SPI1:NM_003120:exon2:c.C74T:p.T25M	.	.	.	.	.	.	.	.	.	.	.	3500454	Agammaglobulinemia	Human_Phenotype_Ontology:HP:0004432,Human_Phenotype_Ontology:HP:0008328,MONDO:MONDO:0015977,MeSH:D000361,MedGen:C0001768,OMIM:PS601495,Orphanet:183669	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.153	0.0221202516655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.105e-06	4.104e-06	4.084e-06	4.126e-06	2.698e-06	1.48e-06	9.7e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	4.968e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.47320	D	0.134	0.60972	T	0.861	0.70673	P	0.346	0.58928	B	0.187873	0.16927	N	0.621565	1	0.81001	D	1.445	0.36358	L	1.46	0.32238	T	-0.42	0.46146	N	0.184	0.31253	-1.0339	0.19205	T	0.106	0.38685	T	10	0.20471036	0.36672	T	0.02212	0.44975	T	0.153	0.40148	0.303	0.27164	0.688485270606	0.68581	0.4352338884887179	0.43440	1.24931227173	0.81763	0.400207817554	0.25098	T	0.385923	0.74720	T	-0.0735883	0.40751	T	-0.343481	0.39951	T	0.89361709356308	0.54487	D	0.924008	0.72946	D	0.049952313	0.08948	0.07656815	0.16970	0.049952313	0.08948	0.07656815	0.16970	-3.895	0.22227	T	.	.	0.101	0.36732	B	.;.;.	.;.;.	4.221136	0.63852	24.6	0.9977648352164048	0.86346	0.63649	0.32155	D	AEFGBHCI	0.728195	0.67629	D	0.122288264709249	0.47505	2.975211	0.0556396835140103	0.42346	2.559634	0.999999976293716	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.49	4.49	0.54177	6.007000	0.70391	11.632000	0.93711	0.676000	0.76740	0.743000	0.29058	1.000000	0.68203	0.730000	0.35099	0.0:0.0:1.0:0.0	13.904	0.63325	31	0.98186	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1429	3305.25	34	chr11	47375701	.	G	A	3305.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.878;DP=400;ExcessHet=0.3476;FS=0.464;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.018;SOR=0.634	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1202	5	0	2	0
chr11	54707345	54707345	C	T	exonic	OR4A5	.	nonsynonymous SNV	OR4A5:NM_001005272:exon1:c.C461T:p.S154F	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00171914154777	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs775297031	0.0001	0.0001	8.714e-05	0.0001	0.0024	0.0001	9.769e-05	0.0015	0.0012	0	0	0	0	0	0.0024	7.285e-05	0.0003	0.0007	5.913e-05	5.906e-05	3.856e-05	8.064e-05	0.0006	3.077e-05	2.21e-05	0.0002	8.996e-05	0	0	0	0	0	0	0.0034	5.882e-05	0.0005	0.0006	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	0.44856	T	-4.93	0.81755	D	0.141	0.14054	.	.	.	.	.	.	.	0.12288877	0.23319	T	.	.	.	.	.	.	.	.	.	0.9597431349534111	0.95960	.	.	.	.	.	0.005385	0.04831	T	.	.	.	.	.	.	.	.	.	0.89721	0.64041	D	.	.	.	.	.	.	.	.	-7.091	0.54696	T	.	.	0.243	0.47719	B	.	.	2.892724	0.38319	20.7	.	.	.	.	.	.	0.022958	0.01216	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037000	0.13728	.	.	0.271000	0.18527	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	215	0.91651	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1728.23	39	chr11	54707345	.	C	T	1728.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.585;DP=400;ExcessHet=0;FS=5.26;MLEAC=1;MLEAF=0.083;MQ=57.54;MQRankSum=-1.601;QD=9.24;ReadPosRankSum=1.59;SOR=0.532	GT:AD:DP:GQ:PL	0/1:113,74:187:99:1738,0,2972	5	0	1	1
chr11	55265133	55265133	C	T	exonic	TRIM48	.	nonsynonymous SNV	TRIM48:NM_024114:exon2:c.C278T:p.A93V	.	476	1044	2	0	0	2	0.000956938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0110350247424	0.0020	0.000399361	0.0016	0.0003	0.0007	0	0	0.0026	0.0011	0.0001	0.0015653	242	154602	rs146290222	0.0020	0.0020	0.0020	0.0020	0.0032	0.0020	0.0019	0.0024	0.0023	0.0006	0.0009	7.758e-05	0	0.0005	0.0032	0.0024	0.0018	0.0002	0.0013	0.0013	0.0013	0.0012	0.0021	0.0011	0.0011	0.0018	0.0017	0.0004	0.0011	0.0011	0	0	0.0004	0.0070	0.0021	0.0034	0	0.054	0.38633	T	0.201	0.27503	T	.	.	.	.	.	.	.	.	.	.	0.999961	0.18878	N	.	.	.	-1.71	0.83157	D	-2.98	0.62008	D	0.147	0.14905	-0.7359	0.58663	T	0.338	0.70429	T	9	0.011858702	0.00257	T	0.011035	0.28229	T	0.109	0.30843	.	.	0.223847106136	0.22009	0.022215529193450066	0.02173	0.00402470828284	0.00354	0.539164841175	0.44327	T	.	.	.	-0.40695	0.02083	T	-0.361323	0.37900	T	0.0196124837338412	0.00664	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.38729	B	.	.	0.362239	0.07350	3.966	0.99372826759919752	0.61541	0.00689	0.02944	N	AEFI	0.030809	0.03172	N	-0.934574356160581	0.10042	0.4779848	-1.0482242409642	0.08744	0.4314143	1.3845465438341E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.596	0.596	0.16678	-0.748000	0.04924	-4.955000	0.01911	0.142000	0.17677	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.0:0.9999:0.0:1.0E-4	7.138	0.24714	160	0.93798	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004908	0.008333	0.009669	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	2863.27	33	chr11	55265133	.	C	T	2863.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.36;DP=415;ExcessHet=0;FS=0.497;MLEAC=1;MLEAF=0.083;MQ=59.82;MQRankSum=-0.964;QD=13.13;ReadPosRankSum=1.07;SOR=0.758	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1213	5	0	1	1
chr11	55773543	55773543	G	A	exonic	OR5D13	.	nonsynonymous SNV	OR5D13:NM_001001967:exon1:c.G106A:p.V36I	.	435	991	89	7	0	103	0.0494005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	0.0094	0.0071885	0.0094	0.0038	0.0055	0.0002	0.0029	0.0124	0.0165	0.0105	0.0093078	1439	154602	rs147031394	0.0096	0.0096	0.0093	0.0099	0.0541	0.0095	0.0094	0.0492	0.0472	0.0040	0.0080	0.0194	2.52e-05	0.0024	0.0541	0.0099	0.0116	0.0108	0.0090	0.0090	0.0092	0.0087	0.0143	0.0086	0.0084	0.0128	0.0122	0.0041	0	0.0143	0.0214	0.0002	0.0018	0.0408	0.0115	0.0133	0.0123	.	.	.	.	.	.	0.002	0.09854	B	0.001	0.04355	B	0.859837	0.08903	N	0.894418	1	0.08975	N	-1.24	0.00794	N	.	.	.	.	.	.	.	.	-0.9992	0.30143	T	0.000	0.00075	T	10	0.0063220263	0.00143	T	.	.	.	.	.	.	.	.	.	0.026461992922624716	0.02596	.	.	0.204620480537	0.00603	T	9.57E-4	0.00501	T	-0.821085	0.00005	T	-0.94182	0.00289	T	0.00201569703242085	0.00021	T	0.758424	0.38228	T	0.03243204	0.03267	0.031081052	0.01648	0.03243204	0.03267	0.031081052	0.01647	-1.204	0.01256	T	.	.	0.070	0.03625	B	.	.	-1.707520	0.00192	0.003	0.086283404533563965	0.00071	0.00206	0.01180	N	AEFI	0.014591	0.00239	N	-1.7650134367774	0.00637	0.02745338	-1.79490174311532	0.00776	0.03459685	1.58383268683026E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.52	-4.35	0.03402	-2.708000	0.00890	-10.712000	0.00673	-2.110000	0.00390	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3984:0.0:0.342:0.2596	4.036	0.09214	154	0.93967	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.036757	0.015152	0.031250	0.052632	0.050000	0.077586	0.021341	0.037879	0.07143	1922.44	34	chr11	55773543	.	G	A	1922.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.25;DP=332;ExcessHet=0;FS=2.228;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-2.161;SOR=0.909	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1218	6	0	1	0
chr11	55820039	55820039	T	C	exonic	OR5D18	.	nonsynonymous SNV	OR5D18:NM_001001952:exon1:c.T410C:p.M137T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.00325436415592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.004	0.74150	D	0.865	0.47557	P	0.585	0.50320	P	0.033762	0.24856	N	0.291554	0.969603	0.25745	N	3.565	0.93411	H	6.44	0.00536	T	-5.82	0.88289	D	0.518	0.54845	-1.0569	0.12543	T	0.007	0.02399	T	10	0.5042897	0.61727	D	0.003254	0.07177	T	0.122	0.33800	0.45	0.51121	0.482500522706	0.47881	0.32260391643262565	0.32173	0.193186186948	0.21654	0.348354607821	0.17679	T	0.02027	0.15991	T	-0.103464	0.35850	T	-0.386396	0.34974	T	0.860342264175415	0.51082	D	0.757524	0.38090	T	0.7273459	0.79574	0.7458338	0.84977	0.7273459	0.79575	0.7458338	0.84978	-7.712	0.59091	D	.	.	0.317	0.54302	B	.	.	3.230149	0.44050	21.9	0.98382313271362754	0.40863	0.89435	0.49898	D	AEFI	0.119734	0.23355	N	0.268335768420489	0.54550	3.62041	0.112200542033537	0.45171	2.785108	2.3903927741622E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.84	3.7	0.41607	3.238000	0.51051	1.535000	0.27187	0.571000	0.28931	1.000000	0.71638	0.988000	0.31051	0.020000	0.11549	0.0:0.1707:0.0:0.8293	8.107	0.30053	156	0.93906	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	4885.24	39	chr11	55820039	.	T	C	4885.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.744;DP=723;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.517;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,102,1530:.	5	0	2	0
chr11	56159903	56159903	G	A	exonic	OR8K5	.	stopgain	OR8K5:NM_001004058:exon1:c.C415T:p.R139X	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0003	0.0002	8.646e-05	0	0	0.0005	0.0011	0.0002	0.0002846	44	154602	rs199580379	0.0004	0.0004	0.0004	0.0004	0.0007	0.0004	0.0004	0.0004	0.0004	0.0002	0.0003	0.0002	0	0	0.0007	0.0005	0.0005	0.0001	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	0.0001	0	0.0006	0.0003	0	0	0	0.0003	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	0.005447	0.32788	N	0.217057	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.011	0.00110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0395545	0.46014	T	0.0234793	0.71855	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.501458	0.70410	25.5	0.96762180123514518	0.31001	0.05119	0.10924	N	AEFI	0.037642	0.05207	N	-0.371291944181149	0.26498	1.446562	-0.73110486930214	0.16188	0.8551483	1.12606036061458E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.18	-0.0501	0.13162	-0.610000	0.05724	.	.	-1.939000	0.00492	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.4694:0.5306	11.181	0.47858	161	0.93754	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	55.44	37	chr11	56159903	.	G	A	55.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.473;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.04;ReadPosRankSum=0.456;SOR=0.495	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1076	6	0	1	0
chr11	56412815	56412815	A	G	exonic	OR5AL1	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.848e-05	2.545e-05	2.475e-05	3.211e-05	0.0001	1.283e-05	8.6e-06	5.06e-06	2.4e-06	0.0001	0	0	0	0	0	1.902e-05	0.0002	0	6.573e-06	6.566e-06	1.286e-05	0	2.407e-05	0	0	.	.	2.407e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	249.94	64	chr11	56412815	.	A	G	249.94	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.554;DP=685;ExcessHet=1.1394;FS=104.012;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.68;ReadPosRankSum=1.43;SOR=9.641	GT:AD:DP:GQ:PL	0/1:111,26:137:21:21,0,2583	3	0	3	1
chr11	56988923	56988923	G	T	exonic	OR5AK2	.	stopgain	OR5AK2:NM_001005323:exon1:c.G10T:p.G4X	.	432	1080	9	1	0	11	0.00506679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0131789	0.0076	0.0006	0.0003	0.0049	0	3.081e-05	0.0036	0.0697	0.0065911	1019	154602	rs13343184	0.0031	0.0031	0.0018	0.0044	0.0488	0.0030	0.0030	0.0476	0.0471	0.0004	2.341e-05	0.0008	0.0019	0	0.0011	2.898e-05	0.0040	0.0488	0.0020	0.0020	0.0012	0.0029	0.0510	0.0018	0.0018	0.0458	0.0437	0.0006	0	6.539e-05	0.0023	0.0043	0	0	2.941e-05	0.0009	0.0510	.	.	.	.	.	.	.	.	.	.	.	.	0.525229	0.05225	N	1.353690	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.014	0.00160	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.518809	0.00447	T	-0.480024	0.24443	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.568487	0.72054	25.8	0.84247721287921196	0.15181	0.04851	0.10585	N	AEFGI	0.043928	0.07004	N	-0.363753535981303	0.26769	1.463546	-0.752943684886623	0.15651	0.8241503	5.7630036850482E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.85	-0.466	0.11546	-2.485000	0.01055	.	.	-0.346000	0.05637	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.3867:0.1618:0.4515:0.0	4.820	0.12751	413	0.81939	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.018939	0.07143	698.49	42	chr11	56988923	.	G	T	698.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.15;DP=253;ExcessHet=0;FS=3.584;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=1.25;SOR=1.204	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1381	6	0	1	0
chr11	57308543	57308543	C	T	exonic	TNKS1BP1	.	nonsynonymous SNV	TNKS1BP1:NM_033396:exon6:c.G4168A:p.A1390T	.	420	1100	2	0	0	2	0.000908265	.	.	.	2295370	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00781027836625	.	.	0.0002	0	0.0003	0	0	0.0002	0	0	0.0001294	20	154602	rs201868001	4.104e-05	4.104e-05	4.084e-05	4.125e-05	0.0002	3.244e-05	2.919e-05	4.358e-05	2.767e-05	0	0.0001	0	0	0	0.0002	4.047e-05	8.279e-05	4.637e-05	2.629e-05	2.627e-05	2.57e-05	2.69e-05	4.411e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0.0005	0	0.535	0.06913	T	0.401	0.14961	T	0.035	0.20614	B	0.01	0.14941	B	0.788534	0.09415	N	0.866235	0.998821	0.21877	N	1.23	0.30720	L	1.42	0.33189	T	-0.3	0.11913	N	0.049	0.02559	-0.9966	0.30865	T	0.041	0.17742	T	10	0.02050808	0.00474	T	0.00781	0.20720	T	0.018	0.03083	0.093	0.01151	0.372446077551	0.36852	0.03669228785989945	0.03616	0.076237714605	0.08559	0.38249823451	0.22611	T	0.001525	0.00969	T	-0.478545	0.00754	T	-0.650874	0.08893	T	0.0238932068763395	0.01131	T	0.60344	0.22635	T	0.039476134	0.05456	0.038607623	0.03767	0.039476134	0.05456	0.038607623	0.03767	-4.395	0.29489	T	.	.	0.097	0.15832	B	.;.	.;.	1.176380	0.15667	12.02	0.98022666985951057	0.37643	0.33031	0.24729	N	AEFDGBCI	0.041744	0.06386	N	-0.610964442049837	0.18613	0.9678074	-0.510056077664233	0.21879	1.185742	0.999983724484861	0.51787	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.39	1.35	0.21078	-0.501000	0.06479	-0.136000	0.11567	-0.182000	0.10109	0.012000	0.18695	0.576000	0.25597	0.979000	0.57723	0.2149:0.5487:0.0:0.2364	3.059	0.05821	440	0.80101	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	793.53	29	chr11	57308543	.	C	T	793.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.27;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=0.492;SOR=0.741	GT:AD:DP:GQ:PL	0/1:23,33:56:99:804,0,588	6	0	1	0
chr11	57501173	57501173	C	A	exonic	SLC43A1	.	nonsynonymous SNV	SLC43A1:NM_001198810:exon3:c.G311T:p.R104L,SLC43A1:NM_003627:exon3:c.G311T:p.R104L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.634	0.372658309171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999651	0.48079	D	2.955	0.85029	M	-0.41	0.69413	T	-5.5	0.90100	D	0.825	0.82057	0.021	0.82682	D	0.501	0.81139	D	10	0.8859631	0.87924	D	0.372658	0.92784	D	0.634	0.85975	0.671	0.80903	0.870100256649	0.86884	0.8315601841165274	0.83115	1.03705223134	0.75649	0.525544464588	0.42407	T	0.752799	0.93239	D	0.348267	0.86388	D	0.262485	0.86209	D	0.998499512672424	0.94310	D	0.979702	0.93041	D	0.7430435	0.80466	0.7044259	0.82578	0.7430435	0.80468	0.7044259	0.82579	-11.492	0.82288	D	.	.	0.64	0.70734	P	.;.;.;.	.;.;.;.	5.100304	0.85214	28.5	0.99855310283623266	0.93458	0.99364	0.95061	D	AEFDBI	0.897684	0.84014	D	0.740854866430814	0.82308	7.730701	0.675020469410884	0.80484	7.30963	0.999999999999678	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.26897	0.05253	2	0.635551	0.53088	0	.	.	5.33	5.33	0.75683	7.513000	0.80629	7.635000	0.62917	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.777000	0.36790	0.0:1.0:0.0:0.0	17.801	0.88498	71	0.96981	Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	35	chr11	57501173	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=229;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	6	1	0	0
chr11	57659769	57659769	C	T	exonic	CLP1	.	nonsynonymous SNV	CLP1:NM_001142597:exon2:c.C293T:p.T98I,CLP1:NM_006831:exon2:c.C293T:p.T98I	Pontocerebellar hypoplasia, type 10, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00704085233541	.	.	4.943e-05	0	0	0	0	1.499e-05	0	0.0003	3.88e-05	6	154602	rs139859258	2.326e-05	2.326e-05	1.497e-05	3.163e-05	0.0003	1.674e-05	1.477e-05	0.0002	0.0002	0	0	0	0	0	0.0002	4.496e-06	8.279e-05	0.0003	1.97e-05	1.968e-05	1.285e-05	2.685e-05	1.47e-05	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0	1.47e-05	0.0009	0	0.081	0.34621	T	0.051	0.47828	T	0.079	0.24468	B	0.04	0.24832	B	0.001196	0.39899	N	0.253053	0.987129	0.40539	D	-0.09	0.04745	N	1.02	0.40749	T	-1.1	0.32387	N	0.578	0.61849	-1.0513	0.14036	T	0.055	0.23375	T	10	0.1190809	0.22528	T	0.007041	0.18649	T	0.036	0.09122	0.396	0.42262	0.33174030287	0.32783	0.5626039213901981	0.56187	0.682638554122	0.60123	0.755306243896	0.75232	T	0.025479	0.33443	T	-0.318197	0.07046	T	-0.394521	0.34024	T	0.128562912344933	0.15248	T	0.908909	0.79148	D	0.075915545	0.17136	0.10008797	0.23919	0.075915545	0.17135	0.10008797	0.23918	-5.611	0.42892	T	0.1351199442116821	0.14659	0.440	0.64844	A	.;.;.;.;.	.;.;.;.;.	3.844471	0.55656	23.6	0.99433515093914959	0.64374	0.98061	0.79268	D	AEFBI	0.463394	0.51232	N	-0.104644099033932	0.37189	2.160155	0.141937576827109	0.46718	2.913148	0.999993388359548	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.61	5.61	0.85347	4.773000	0.62025	7.697000	0.66086	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9235:0.0:0.0765	12.580	0.55738	214	0.91692	Clp1, N-terminal beta-sandwich domain;Clp1, N-terminal beta-sandwich domain;Clp1, N-terminal beta-sandwich domain;Clp1, N-terminal beta-sandwich domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	553.44	35	chr11	57659769	.	C	T	553.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.366;DP=271;ExcessHet=0;FS=3.081;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.83;ReadPosRankSum=0.148;SOR=0.796	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1109	6	0	1	0
chr11	57796896	57796896	G	A	exonic	CTNND1	.	nonsynonymous SNV	CTNND1:NM_001085469:exon3:c.G557A:p.R186H,CTNND1:NM_001085463:exon4:c.G557A:p.R186H,CTNND1:NM_001085464:exon4:c.G557A:p.R186H,CTNND1:NM_001085465:exon4:c.G557A:p.R186H,CTNND1:NM_001085466:exon4:c.G557A:p.R186H,CTNND1:NM_001085467:exon4:c.G557A:p.R186H,CTNND1:NM_001085468:exon4:c.G557A:p.R186H,CTNND1:NM_001206890:exon4:c.G557A:p.R186H,CTNND1:NM_001085462:exon5:c.G860A:p.R287H,CTNND1:NM_001206883:exon5:c.G698A:p.R233H,CTNND1:NM_001206884:exon5:c.G698A:p.R233H,CTNND1:NM_001206886:exon5:c.G698A:p.R233H,CTNND1:NM_001206887:exon5:c.G698A:p.R233H,CTNND1:NM_001206888:exon5:c.G698A:p.R233H,CTNND1:NM_001085458:exon6:c.G860A:p.R287H,CTNND1:NM_001085459:exon6:c.G860A:p.R287H,CTNND1:NM_001085460:exon6:c.G860A:p.R287H,CTNND1:NM_001085461:exon6:c.G860A:p.R287H,CTNND1:NM_001206885:exon6:c.G860A:p.R287H,CTNND1:NM_001206889:exon6:c.G698A:p.R233H,CTNND1:NM_001206891:exon6:c.G698A:p.R233H,CTNND1:NM_001331:exon6:c.G860A:p.R287H	.	421	1072	28	1	0	30	0.0137994	.	.	.	3207144	CTNND1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.526	.	0.0002	0.00239617	0.0016	0.0001	0.0007	0.0001	0	0.0005	0.0024	0.0109	0.0013583	210	154602	rs200914456	0.0009	0.0010	0.0006	0.0013	0.0105	0.0009	0.0009	0.0099	0.0097	6.005e-05	0.0005	0.0042	0	0	0.0056	0.0002	0.0014	0.0105	0.0006	0.0006	0.0004	0.0007	0.0120	0.0005	0.0004	0.0095	0.0086	9.621e-05	0	6.537e-05	0.0023	0.0002	0	0	0.0002	0.0005	0.0120	0.001	0.91255	D	0.127	0.92824	T	0.997	0.90584	D	0.884	0.88582	P	0.000000	0.84330	D	0.049271	0.999999	0.81001	D	2.305	0.65957	M	-1.36	0.83327	T	-2.12	0.71882	N	0.652	0.77601	0.450	0.89840	D	0.705	0.89849	D	10	0.008713067	0.00197	T	.	.	.	0.526	0.79947	.	.	0.893469137683	0.89241	0.7538686209710876	0.75333	1.21594706112	0.80967	0.727611362934	0.71158	T	0.036562	0.73026	T	0.0189001	0.54234	T	0.262334	0.86201	D	0.0432667433749685	0.04286	T	0.963804	0.88413	D	0.3429911	0.56517	0.32258293	0.58197	0.3187861	0.54537	0.37006184	0.62263	-3.71	0.26795	T	.	.	0.500	0.64763	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.411063	0.90574	31	0.99957276297572628	0.99981	0.99859	0.99866	D	AEFDBI	0.953844	0.97048	D	0.895609814481584	0.91543	10.93695	0.903831306916432	0.95736	13.91645	0.999999999999999	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	9.099000	0.93565	8.635000	0.77869	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.928	0.97108	378	0.83833	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005035	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.007576	0.07143	1037.53	35	chr11	57796896	.	G	A	1037.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.5;DP=282;ExcessHet=0;FS=1.744;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=2.18;SOR=0.922	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1124	6	0	1	0
chr11	58227978	58227983	TGTTCC	-	exonic	OR10Q1	.	nonframeshift deletion	OR10Q1:NM_001004471:exon1:c.893_898del:p.R298_N299del	.	425	1075	22	0	0	22	0.0101289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026	0.00299521	0.0024	0.0002	0.0029	0.0001	0.0002	0.0023	0.0022	0.0059	0.0004995	13	26028	rs569971760	0.0020	0.0020	0.0018	0.0023	0.0067	0.0020	0.0019	0.0062	0.0061	0.0002	0.0039	0.0002	2.519e-05	0.0002	0.0024	0.0018	0.0020	0.0067	0.0016	0.0016	0.0016	0.0016	0.0058	0.0014	0.0014	0.0041	0.0036	0.0003	0	0.0031	0	0	0.0004	0	0.0022	0.0019	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1048.41	52	chr11	58227977	.	TTGTTCC	T	1048.41	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.696;DP=256;ExcessHet=0;FS=1.073;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.16;ReadPosRankSum=-0.794;SOR=0.527	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1400	6	0	1	0
chr11	58267476	58267476	G	A	exonic	OR10W1	.	nonsynonymous SNV	OR10W1:NM_207374:exon1:c.C383T:p.T128I	.	427	1079	13	3	0	19	0.00872761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	0.0002	0.0183706	0.0107	0.0002	0.0008	0.0004	0	3.025e-05	0.0101	0.0769	0.0091719	1418	154602	rs200833145	0.0047	0.0047	0.0024	0.0069	0.0751	0.0046	0.0045	0.0736	0.0729	0.0002	6.712e-05	0	5.045e-05	0	0.0035	2.608e-05	0.0046	0.0751	0.0026	0.0026	0.0013	0.0039	0.0766	0.0023	0.0023	0.0701	0.0676	0.0003	0	6.532e-05	0	0.0004	0	0	4.409e-05	0.0009	0.0766	0.005	0.63226	D	0.016	0.60972	D	0.981	0.59675	D	0.708	0.54437	P	0.002641	0.36208	N	0.125321	0.917861	0.27362	N	2.945	0.84822	M	6.78	0.00490	T	-4.25	0.76094	D	0.297	0.33578	-1.0559	0.12803	T	0.004	0.01400	T	10	0.002395302	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.49150466261061965	0.49071	0.174593514633	0.19662	0.302266150713	0.10739	T	0.028591	0.20678	T	-0.501515	0.00561	T	-0.435641	0.29297	T	0.0913901125791992	0.11382	T	0.732227	0.34774	T	0.5716251	0.71150	0.54522276	0.73712	0.5716251	0.71151	0.54522276	0.73713	-8.308	0.63149	D	.	.	0.296	0.52696	B	.	.	3.101195	0.41791	21.4	0.99827754227103138	0.91026	0.90528	0.51778	D	AEFGI	0.273053	0.38855	N	0.286629345381957	0.55468	3.711056	0.159904920510697	0.47669	2.993664	1.71151944038902E-4	0.05786	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.81	3.81	0.43020	1.637000	0.36769	3.840000	0.40037	0.676000	0.76740	0.556000	0.27393	1.000000	0.68203	0.533000	0.29776	0.0:0.1371:0.5803:0.2827	9.591	0.38708	285	0.88719	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.037879	0.1429	6230.22	38	chr11	58267476	.	G	A	6230.22	.	AC=2;AF=0.143;AN=14;DP=387;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=33.86;SOR=0.831	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1090	6	1	0	0
chr11	58624107	58624107	A	G	exonic	CNTF	.	nonsynonymous SNV	CNTF:NM_000614:exon2:c.A188G:p.Q63R	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00690614489256	.	.	.	.	.	.	.	.	.	.	.	.	.	rs950201643	1.644e-05	1.642e-05	1.635e-05	1.652e-05	0.0036	1.112e-05	9.34e-06	0.0024	0.0021	0	0	0	0	0	0.0036	0	4.974e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.325	0.03546	N	1.65	0.27650	T	1.55	0.00694	N	0.01	0.00095	-0.9944	0.31459	T	0.025	0.10553	T	9	0.044665486	0.03450	T	0.006906	0.18261	T	0.099	0.28413	0.447	0.50629	0.213573922156	0.20996	0.0707777739800325	0.07014	0.0238801452212	0.02421	0.215032353997	0.01043	T	0.080546	0.36388	T	-0.404	0.02179	T	-0.818095	0.01491	T	0.0304526182354897	0.02060	T	0.352865	0.07937	T	0.056952514	0.11272	0.08696223	0.20181	0.056952514	0.11271	0.08696223	0.20180	-3.13	0.11644	T	.	.	0.057	0.00563	B	.	.	-0.487871	0.01906	0.159	0.5461675312990053	0.05174	0.01870	0.05763	N	AEFDBCI	0.016356	0.00363	N	-1.76473233654134	0.00637	0.02748496	-1.66848546473649	0.01283	0.05787486	0.998972901575641	0.38110	0.460665	0.09802	0	0.577304	0.33150	0	0.575934	0.27490	0	0.549297	0.17558	0	.	.	5.82	-2.76	0.05547	-0.532000	0.06252	-0.238000	0.10617	-1.264000	0.01288	0.000000	0.06391	0.000000	0.08366	0.820000	0.38637	0.1003:0.0:0.8997:0.0	15.252	0.73248	635	0.64580	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003109	0.010101	0.001359	0.010490	0.000000	0.008621	0.000000	0.000000	0.07143	507.49	38	chr11	58624107	.	A	G	507.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.852;DP=265;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.06;ReadPosRankSum=1.31;SOR=0.713	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	6	0	1	0
chr11	59125346	59125346	C	T	exonic	FAM111B	.	nonsynonymous SNV	FAM111B:NM_001142704:exon2:c.C1159T:p.R387W,FAM111B:NM_001142703:exon3:c.C1159T:p.R387W,FAM111B:NM_198947:exon4:c.C1249T:p.R417W	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, Autosomal dominant	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00932604505896	.	.	1.655e-05	0	0	0.0001	0	1.501e-05	0	0	1.29e-05	2	154602	rs750701880	8.894e-06	8.893e-06	8.168e-06	9.627e-06	2.52e-05	4.96e-06	3.82e-06	3.85e-06	2.76e-06	0	0	0	2.52e-05	1.873e-05	0	8.095e-06	0	2.319e-05	1.316e-05	1.314e-05	2.572e-05	0	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0.0002	9.423e-05	0	0	0	0	0.002	0.72154	D	0.006	0.70582	D	0.0	0.02946	B	0.0	0.01387	B	0.589333	0.05582	N	1.340670	1	0.08975	N	1.39	0.34934	L	1.42	0.33189	T	-3.41	0.67129	D	0.117	0.11626	-0.9671	0.37794	T	0.044	0.18742	T	10	0.06274131	0.08068	T	0.009326	0.24483	T	0.015	0.02232	0.333	0.32005	0.215869574891	0.21205	0.30081314102616186	0.29994	0.053446376528	0.05892	0.205919057131	0.00650	T	0.220995	0.58443	T	-0.389946	0.02693	T	-0.628778	0.10506	T	0.125427648425102	0.14953	T	0.49795	0.15494	T	0.06938945	0.15199	0.08804793	0.20504	0.06938945	0.15199	0.08804793	0.20503	-5.154	0.39134	T	0.1735967742886933	0.22002	0.092	0.24294	B	.;.;.;.	.;.;.;.	0.692762	0.10613	7.317	0.92965242476032162	0.22542	0.04625	0.10288	N	AEFBCI	0.071173	0.14159	N	-1.49341003158115	0.01896	0.08320293	-1.58701098117294	0.01735	0.07886542	0.00765576598037059	0.11515	0.706548	0.73137	0	0.702456	0.74545	0	0.575934	0.27490	0	0.714379	0.83352	0	.	.	3.85	-4.95	0.02821	-1.991000	0.01567	-15.955000	0.00333	-0.997000	0.01825	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5503:0.2761:0.0:0.1736	5.833	0.17844	626	0.65439	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1580.27	42	chr11	59125346	.	C	T	1580.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.48;DP=298;ExcessHet=0;FS=0.73;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-2.336;SOR=0.793	GT:AD:DP:GQ:PL	0/1:60,55:115:99:1590,0,1524	5	0	1	1
chr11	59443586	59443590	ACCCA	-	exonic	OR5A1	.	frameshift deletion	OR5A1:NM_001004728:exon2:c.418_422del:p.T140Gfs*27	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.295e-05	0	8.637e-05	0	0	0	0	0.0002	3.84e-05	1	26028	rs774040347	3.625e-05	3.625e-05	3.539e-05	3.713e-05	0.0005	2.828e-05	2.565e-05	0.0003	0.0002	0	0.0001	0	0	0	0.0005	8.094e-06	4.967e-05	0.0004	5.924e-05	5.912e-05	5.146e-05	6.739e-05	0.0015	3.082e-05	2.214e-05	0.0007	0.0005	2.42e-05	0	0	0	0	0	0	1.471e-05	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1572.4	102	chr11	59443585	.	GACCCA	G	1572.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.055;DP=397;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=-0.356;SOR=0.72	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1362	6	0	1	0
chr11	59861632	59861632	C	T	exonic	TCN1	.	nonsynonymous SNV	TCN1:NM_001062:exon4:c.G451A:p.V151I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00645096305427	.	.	4.12e-05	9.615e-05	0	0.0001	0	1.499e-05	0	0.0001	3.23e-05	5	154602	rs778765850	6.157e-06	6.156e-06	6.806e-06	5.5e-06	2.987e-05	2.9e-06	2.1e-06	3.85e-06	1.44e-06	2.987e-05	0	0	2.519e-05	1.872e-05	0	3.597e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.192	0.28300	T	0.993	0.65571	D	0.724	0.55036	P	0.028737	0.25559	N	0.252226	1	0.08975	N	0.785	0.19527	N	1.38	0.34050	T	-0.12	0.08809	N	0.213	0.23758	-1.0186	0.24171	T	0.081	0.32002	T	10	0.30375177	0.47904	T	0.006451	0.16985	T	0.094	0.27141	0.558	0.67684	0.296329037015	0.29243	0.10810940965695995	0.10739	0.0228081127972	0.02307	0.314822524786	0.12636	T	0.014734	0.12488	T	-0.392991	0.02573	T	-0.620753	0.11126	T	0.167977795004845	0.18442	T	0.554844	0.19218	T	0.04748367	0.08124	0.055391487	0.09708	0.04748367	0.08124	0.055391487	0.09707	-4.65	0.32794	T	.	.	0.087	0.11076	B	.	.	0.450449	0.08207	4.942	0.98533991525576348	0.42632	0.02025	0.06077	N	AEFBI	0.037931	0.05291	N	-0.606297942132066	0.18755	0.9762104	-0.754500087738284	0.15612	0.8219381	0.356093112353329	0.19731	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.12	0.898	0.18397	-0.518000	0.06353	-1.864000	0.04590	-0.223000	0.07921	0.000000	0.06391	0.000000	0.08366	0.098000	0.18187	0.0:0.4231:0.491:0.0859	9.103	0.35844	730	0.54327	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.1429	72.0	34	chr11	59861632	.	C	T	72.0	.	AC=2;AF=0.143;AN=14;DP=201;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=24;SOR=1.179	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1173	6	1	0	0
chr11	60798451	60798451	T	C	exonic	MS4A10	.	nonsynonymous SNV	MS4A10:NM_206893:exon7:c.T659C:p.V220A	.	433	1076	12	1	0	14	0.00646353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.00115533226062	0.0052	0.00259585	0.0047	0.0009	0.0031	0.0023	0.0098	0.0063	0.0077	0.0006	0.0044889	694	154602	rs139578350	0.0061	0.0061	0.0064	0.0058	0.0141	0.0060	0.0059	0.0116	0.0107	0.0011	0.0032	0.0217	0.0012	0.0077	0.0141	0.0064	0.0076	0.0007	0.0044	0.0044	0.0044	0.0043	0.0056	0.0041	0.0040	0.0052	0.0050	0.0015	0	0.0021	0.0239	0.0013	0.0067	0.0171	0.0056	0.0062	0.0017	0.14	0.25664	T	0.046	0.49120	D	0.043	0.21573	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	1.355	0.33814	L	1.92	0.23082	T	0.68	0.02228	N	0.063	0.03502	-0.9833	0.34234	T	0.019	0.08173	T	9	0.00635761	0.00144	T	0.001155	0.01434	T	0.001	0.00016	.	.	0.104622674875	0.10061	0.09669567333101191	0.09601	0.0373546032595	0.03961	0.22637398541	0.01710	T	6.38E-4	0.00271	T	-0.702927	0.00035	T	-0.77987	0.02457	T	2.63986948993988e-05	0.00000	T	0.233577	0.03193	T	0.025533883	0.01501	0.033226434	0.02182	0.025533883	0.01501	0.033226434	0.02182	-3.56	0.17281	T	.	.	0.092	0.13783	B	.	.	-0.345588	0.02423	0.274	0.6246904516175138	0.06971	0.00860	0.03421	N	AEFDBI	0.026849	0.02088	N	-1.27413465636325	0.03990	0.1792595	-1.35226064130874	0.03779	0.1769936	0.00272546126844268	0.09662	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	2.59	-1.36	0.08610	-0.932000	0.04072	-0.151000	0.11419	-0.263000	0.06870	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2351:0.2953:0.0:0.4695	2.163	0.03595	758	0.50837	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011078	0.005051	0.012228	0.038012	0.000000	0.008621	0.006098	0.000000	0.1429	3074.24	33	chr11	60798451	.	T	C	3074.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.298;DP=460;ExcessHet=0.3476;FS=6.014;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=0.378;SOR=0.49	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	5	0	2	0
chr11	60869537	60869537	G	A	exonic	ZP1	.	nonsynonymous SNV	ZP1:NM_207341:exon3:c.G319A:p.D107N	Oocyte maturation defect 1, Autosomal recessive	420	1083	18	1	0	20	0.00914913	0.9251	0.684	.	2816659	not_provided|ZP1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.083	0.0084374323153	0.0020	0.00139776	0.0023	0.0002	0.0027	0.0006	0	0.0031	0.0097	0.0007	0.0021345	330	154602	rs145707301	0.0020	0.0020	0.0020	0.0020	0.0163	0.0020	0.0019	0.0136	0.0126	0.0003	0.0031	0.0205	0.0006	5.675e-05	0.0163	0.0017	0.0035	0.0008	0.0020	0.0020	0.0019	0.0020	0.0034	0.0018	0.0017	0.0027	0.0024	0.0003	0	0.0034	0.0202	0.0006	0	0.0136	0.0021	0.0052	0.0008	0.019	0.50132	D	0.126	0.35205	T	0.845	0.46707	P	0.326	0.41929	B	0.527017	0.05235	N	1.262390	0.76458	0.34078	D	0.805	0.20218	L	1.65	0.27650	T	-1.73	0.41046	N	0.078	0.05287	-1.0268	0.21494	T	0.057	0.23904	T	9	0.0063221753	0.00143	T	0.008437	0.22332	T	0.083	0.24192	.	.	0.462461958149	0.45873	0.5216341298894437	0.52086	0.201467826254	0.22544	0.362747877836	0.19786	T	0.06113	0.31572	T	-0.643027	0.00080	T	-0.701055	0.05768	T	0.0258744014069865	0.01388	T	0.59614	0.22137	T	0.07250748	0.16136	0.07542073	0.16601	0.06388268	0.13497	0.06292846	0.12389	-6.651	0.51440	T	0.2812643485133788	0.37661	0.102	0.17953	B	.	.	2.910020	0.38601	20.8	0.99649124727281668	0.77192	0.59398	0.30904	D	AEFBI	0.140577	0.26251	N	-0.0297272071245893	0.40512	2.407167	-0.0626323343636556	0.36950	2.156914	0.999630396214113	0.41205	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.28	4.28	0.50183	1.754000	0.37998	4.702000	0.44414	-0.289000	0.06313	0.938000	0.32564	1.000000	0.68203	0.313000	0.24807	0.0:0.0:1.0:0.0	12.575	0.55709	658	0.62094	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.010574	0.005051	0.008152	0.023392	0.000000	0.008621	0.021341	0.003788	0.2143	4134.76	34	chr11	60869537	.	G	A	4134.76	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.168;DP=437;ExcessHet=1.1394;FS=4.141;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.64;SOR=0.495	GT:AD:DP:GQ:PL	0/1:61,61:122:99:1610,0,1622	4	0	3	0
chr11	61231484	61231484	G	A	exonic	PGA4	.	nonsynonymous SNV	PGA4:NM_001079808:exon9:c.G1120A:p.V374I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0174278136817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455360406	3.08e-05	2.654e-05	3.244e-05	2.932e-05	6.013e-05	1.656e-05	1.234e-05	9.96e-06	4.32e-06	0	0	0	3.636e-05	0	0	2.107e-05	0.0002	6.013e-05	0	7.278e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.168	0.41364	T	0.226	0.27767	T	.	.	.	.	.	.	0.005810	0.32491	U	0.191765	0.839831	0.81001	D	0.555	0.15161	N	-0.02	0.62918	T	-0.4	0.18459	N	0.192	0.24010	-0.8434	0.52419	T	0.155	0.48602	T	10	0.25621343	0.43023	T	0.017428	0.39125	T	0.098	0.28162	0.672	0.81002	0.0551355673512	0.04727	0.09864043258895476	0.09795	.	.	0.686693370342	0.65230	T	0.110388	0.42503	T	-0.0910914	0.37894	T	-0.368623	0.37051	T	0.2106981096736	0.20990	T	0.907909	0.67446	D	0.10550344	0.24945	0.11408311	0.27537	0.10550344	0.24944	0.11408311	0.27536	-5.373	0.40659	T	.	.	0.116	0.32969	B	.;.;.	.;.;.	1.924595	0.24443	16.40	0.9754236108398241	0.34517	0.65123	0.32632	D	AEFI	0.194407	0.32149	N	-0.434241475764929	0.24277	1.309734	-0.398564437725557	0.25040	1.374698	0.474357586720229	0.20733	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.85	2.85	0.32333	0.676000	0.24927	3.187000	0.36685	0.502000	0.22824	0.516000	0.27080	0.999000	0.35428	0.709000	0.34421	0.0:0.0:1.0:0.0	13.379	0.60198	314	0.87270	Peptidase family A1 domain|Peptidase family A1 domain|Pepsin catalytic domain;.;Peptidase family A1 domain|Peptidase family A1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	183.72	1	chr11	61231484	.	G	A	183.72	.	AC=2;AF=0.2;AN=10;BaseQRankSum=1.28;DP=16;ExcessHet=0.5115;FS=0;MLEAC=3;MLEAF=0.3;MQ=26.79;MQRankSum=0;QD=20.41;ReadPosRankSum=1.28;SOR=2.093	GT:AD:DP:GQ:PL	0/0:3,0:3:9:0,9,99	3	0	2	2
chr11	61313887	61313887	G	T	exonic	DDB1	.	nonsynonymous SNV	DDB1:NM_001923:exon15:c.C1836A:p.F612L	.	8	1512	2	0	0	2	0.000660939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	0.0210061889715	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401595145	2.736e-06	2.736e-06	1.361e-06	4.125e-06	0.0003	6.4e-07	4.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.16358	T	0.25	0.23707	T	0.004	0.12183	B	0.008	0.13708	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.995	0.54099	M	1.6	0.28604	T	-3.06	0.63090	D	0.875	0.87265	-0.9285	0.44357	T	0.112	0.40214	T	10	0.6488522	0.69485	D	0.021006	0.43710	T	0.300	0.62068	0.378	0.39319	0.822415824916	0.82073	0.647103457072229	0.64645	1.13977541105	0.78881	0.894135415554	0.95765	D	0.439414	0.78471	T	0.0963433	0.63893	D	0.0821419	0.75720	D	0.769866466522217	0.44431	D	0.997511	0.98983	D	0.7543133	0.81119	0.6545769	0.79779	0.7543133	0.81121	0.6545769	0.79780	-7.616	0.58422	D	.	.	0.984	0.91883	P	.	.	3.414723	0.47383	22.4	0.9965374811587232	0.77442	0.99391	0.95423	D	AEFBI	0.954132	0.97100	D	0.0461406661240527	0.43963	2.679297	0.263102941936341	0.53399	3.508993	0.999999999997092	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.04	6.04	0.98025	7.879000	0.85694	5.981000	0.52169	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.595	0.99442	736	0.53558	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1018.46	36	chr11	61313887	.	G	T	1018.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.1;DP=267;ExcessHet=0;FS=4.407;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-0.005;SOR=1.255	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1386	6	0	1	0
chr11	61346474	61346474	C	T	exonic	TKFC	.	nonsynonymous SNV	TKFC:NM_015533:exon18:c.C1699T:p.R567W,TKFC:NM_001351976:exon19:c.C1699T:p.R567W	.	427	1094	1	0	0	1	0.00045683	.	.	.	3216195	TKFC-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.242	0.0495847740076	0.0007	0.000998403	0.0008	0.0008	0.0028	0	0	0.0008	0.0011	0.0001	0.0007633	118	154602	rs139056511	0.0007	0.0007	0.0007	0.0007	0.0035	0.0007	0.0007	0.0029	0.0027	0.0006	0.0033	0.0007	2.522e-05	0	0.0035	0.0006	0.0018	9.282e-05	0.0010	0.0010	0.0011	0.0010	0.0045	0.0009	0.0009	0.0037	0.0033	0.0007	0	0.0045	0.0006	0	0	0.0034	0.0006	0.0061	0	0.002	0.72154	D	0.002	0.79402	D	0.995	0.67487	D	0.727	0.55167	P	0.000329	0.45700	D	0.216830	0.999879	0.50225	D	.	.	.	1.43	0.32958	T	-4.6	0.78976	D	0.411	0.45142	-0.8415	0.52547	T	0.113	0.40399	T	10	0.022637635	0.00570	T	0.049585	0.63876	D	0.242	0.54781	.	.	0.68686329256	0.68418	0.6747777279296933	0.67415	0.144314673095	0.16289	0.39784270525	0.24768	T	0.582459	0.86348	D	-0.334605	0.05770	T	-0.256464	0.49176	T	0.0549904942666553	0.06356	T	0.927907	0.73422	D	0.54157764	0.69485	0.569189	0.75057	0.54157764	0.69486	0.569189	0.75058	-10.801	0.78555	D	.	.	0.268	0.50204	B	.	.	4.313435	0.65958	24.9	0.99733419858941907	0.82975	0.80775	0.40328	D	AEFDGBCI	0.742836	0.68633	D	0.497942562833892	0.66970	5.019571	0.470844326230029	0.66065	4.903979	0.999999390344524	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.662433	0.64102	0	.	.	5.67	4.73	0.59485	2.320000	0.43456	3.273000	0.37174	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	0.989000	0.64315	0.0:0.7258:0.2742:0.0	14.655	0.68436	742	0.52873	DhaL domain|DhaL domain|DhaL domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.040404	0.006793	0.000000	0.050000	0.008621	0.000000	0.003788	0.07143	1038.49	33	chr11	61346474	.	C	T	1038.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.858;DP=260;ExcessHet=0;FS=4.034;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=0.792;SOR=1.17	GT:AD:DP:GQ:PL	0/1:45,44:89:99:1049,0,1009	6	0	1	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0303838687175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.084	0.41239	T	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	1.75	0.26152	T	-1.66	0.39692	N	0.801	0.79696	-0.9294	0.44227	T	0.147	0.47183	T	10	0.85639554	0.84838	D	0.030384	0.52709	D	0.359	0.67962	0.717	0.85230	0.332276917938	0.32835	0.6045569509805981	0.60386	1.38609513779	0.84885	0.863340735435	0.91603	D	0.126602	0.45309	T	0.100887	0.64389	D	-0.0928586	0.63945	T	0.953071773052216	0.63941	D	0.949005	0.80370	D	0.34753636	0.56875	0.27692467	0.53642	0.34753636	0.56876	0.27692467	0.53641	-9.454	0.70572	D	.	.	0.932	0.85229	P	.	.	5.079334	0.84758	28.4	0.99721849654714378	0.82125	0.99768	0.99325	D	AEFBI	0.892349	0.82920	D	0.710803035018918	0.80340	7.272851	0.681479095580318	0.80974	7.419648	0.999999999989603	0.74766	0.651	0.46895	0	0.547309	0.14657	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	9.852000	0.98385	11.590000	0.93399	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.371	0.87267	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1144.51	50	chr11	61740527	.	G	C	1144.51	.	AC=3;AF=0.5;AN=6;BaseQRankSum=-1.723;DP=358;ExcessHet=1.383;FS=340.269;MLEAC=4;MLEAF=0.667;MQ=60;MQRankSum=0;QD=5.5;ReadPosRankSum=0.587;SOR=8.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:68,26:99:99:.:.:685,0,1940:.	0	0	3	4
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1249.3	50	chr11	61740531	.	T	C	1249.3	.	AC=4;AF=0.4;AN=10;BaseQRankSum=0.107;DP=429;ExcessHet=3.1439;FS=414.536;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.77;ReadPosRankSum=0.989;SOR=9.19	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,38:105:99:0|1:61740531_T_C:755,0,1918:61740531	1	0	4	2
chr11	61744322	61744322	C	G	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon20:c.C2962G:p.L988V	.	414	1106	2	0	0	2	0.000903342	.	.	.	712924	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.036	.	0.0043	0.00658946	0.0057	0.0024	0.0238	0.0020	0.0064	0.0043	0.0089	0.0021	0.0057697	892	154602	rs117050893	0.0050	0.0050	0.0053	0.0048	0.0264	0.0049	0.0049	0.0251	0.0246	0.0007	0.0264	3.827e-05	0.0009	0.0050	0.0012	0.0048	0.0042	0.0019	0.0061	0.0061	0.0060	0.0062	0.0273	0.0058	0.0056	0.0252	0.0243	0.0019	0	0.0273	0	0.0012	0.0053	0	0.0051	0.0057	0.0025	0.254	0.16903	T	0.671	0.06284	T	0.0	0.02946	B	0.001	0.04355	B	0.000955	0.40932	D	0.158981	0.999989	0.18198	N	0	0.06538	N	1.82	0.25018	T	-0.41	0.14000	N	0.054	0.02559	-0.9913	0.32270	T	0.006	0.02018	T	10	0.0033251345	0.00057	T	.	.	.	0.036	0.09122	.	.	0.110392049598	0.10638	0.20094121990929129	0.20011	0.505875350505	0.48817	0.552421450615	0.46200	T	0.034717	0.23434	T	-0.64289	0.00080	T	-0.675294	0.07273	T	0.00280315734989648	0.00029	T	0.866813	0.56740	D	0.0899198	0.21024	0.058898468	0.10963	0.0899198	0.21024	0.058898468	0.10963	-4.461	0.30375	T	.	.	0.055	0.00397	B	.	.	1.554164	0.19917	14.50	0.94560613626838796	0.25086	0.39099	0.26137	N	AEFDBHCI	0.070014	0.13882	N	-0.806366762505243	0.13148	0.6456541	-0.699097533832518	0.16983	0.9009743	0.969966376792417	0.29170	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.03	1.95	0.25130	1.782000	0.38284	1.766000	0.28593	0.599000	0.40250	0.958000	0.33488	0.936000	0.28664	0.376000	0.26245	0.0:0.5927:0.3026:0.1048	8.643	0.33153	754	0.51307	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	1559.44	39	chr11	61744322	.	C	G	1559.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.217;DP=345;ExcessHet=0;FS=1.408;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=1.17;SOR=0.572	GT:AD:DP:GQ:PL	0/1:60,64:124:99:1570,0,1453	6	0	1	0
chr11	62243466	62243466	C	T	exonic	SCGB1D2	.	nonsynonymous SNV	SCGB1D2:NM_006551:exon2:c.C233T:p.A78V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00193828256287	7.7e-05	.	9.987e-05	0.0004	0	0	0	1.505e-05	0	0.0004	7.76e-05	12	154602	rs373290916	5.89e-05	5.883e-05	4.088e-05	7.71e-05	0.0005	4.882e-05	4.501e-05	0.0004	0.0003	5.98e-05	2.246e-05	7.676e-05	7.564e-05	0	0.0002	2.7e-05	4.972e-05	0.0005	0.0002	0.0002	0.0002	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	0.0005	0	6.539e-05	0	0	0	0	2.941e-05	0	0.0008	0.135	0.26192	T	0.248	0.23845	T	0.958	0.54977	D	0.519	0.48163	P	0.000749	0.00678	N	5.157350	1	0.08975	N	.	.	.	2.54	0.13916	T	-1.87	0.43717	N	0.186	0.20262	-0.9944	0.31459	T	0.034	0.14639	T	9	0.05617869	0.06257	T	0.001938	0.03456	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.11097926569704446	0.11026	0.0440953873989	0.04750	0.227440267801	0.01783	T	0.006856	0.06286	T	-0.627144	0.00100	T	-0.784592	0.02318	T	0.270961374044418	0.23788	T	0.272073	0.04599	T	0.047547277	0.08144	0.05736996	0.10416	0.047547277	0.08144	0.05736996	0.10416	-3.415	0.15259	T	.	.	0.153	0.33755	B	.	.	-1.208185	0.00523	0.012	0.79080211779093357	0.12581	0.00213	0.01210	N	AEFBI	0.024109	0.01442	N	-1.40694135200558	0.02577	0.1139901	-1.67671431709181	0.01244	0.05604525	4.19226868395763E-4	0.06899	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.4	-4.8	0.02957	-5.619000	0.00131	.	.	-1.606000	0.00887	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6757:0.2082:0.0:0.1161	6.147	0.19505	510	0.75209	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	2030.63	42	chr11	62243466	.	C	T	2030.63	.	AC=2;AF=0.143;AN=14;DP=232;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.77;SOR=1.376	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1029	6	1	0	0
chr11	62576195	62576195	A	T	exonic	TUT1	.	nonsynonymous SNV	TUT1:NM_001367906:exon9:c.T1465A:p.W489R	.	407	1085	30	0	0	30	0.0136364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0066	0.00179712	0.0091	0.0019	0.0051	0	0.0048	0.0138	0.0097	0.0026	0.0071797	1110	154602	rs118073625	0.0083	0.0083	0.0084	0.0082	0.0180	0.0082	0.0081	0.0152	0.0141	0.0012	0.0035	0.0068	0	0.0042	0.0180	0.0097	0.0084	0.0019	0.0053	0.0053	0.0059	0.0046	0.0089	0.0050	0.0049	0.0083	0.0081	0.0015	0.0011	0.0033	0.0081	0	0.0024	0.0170	0.0089	0.0085	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014099	0.005051	0.014946	0.029240	0.000000	0.008621	0.009146	0.003788	0.07143	497.83	51	chr11	62576195	.	A	T	497.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.099;DP=224;ExcessHet=0;FS=2.369;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=0.746;SOR=0.404	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1317	6	0	1	0
chr11	62615729	62615729	C	T	exonic	B3GAT3	.	nonsynonymous SNV	B3GAT3:NM_012200:exon5:c.G980A:p.R327Q,B3GAT3:NM_001288721:exon6:c.G959A:p.R320Q	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1017472	Larsen-like_syndrome,_B3GAT3_type|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0009511,MedGen:C3278404,OMIM:245600,Orphanet:284139|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.073	0.0237419893054	.	.	2.575e-05	0	0.0002	0	0	1.552e-05	0	0	2.59e-05	4	154602	rs569989507	5.337e-05	5.336e-05	5.174e-05	5.502e-05	0.0005	4.345e-05	4.018e-05	0.0001	7.557e-05	0	4.473e-05	0	0	0	0.0005	5.935e-05	4.969e-05	4.64e-05	6.568e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.389	0.10874	T	0.143	0.33219	T	0.0	0.02946	B	0.0	0.01387	B	0.004430	0.33751	N	0.254043	1	0.81001	D	1.295	0.32453	L	-1.02	0.76300	T	-0.68	0.19509	N	0.054	0.02559	-0.9012	0.47868	T	0.238	0.60607	T	10	0.03878793	0.02321	T	0.023742	0.46713	T	0.073	0.21317	0.261	0.20473	0.801811778313	0.79996	0.20439763939130595	0.20356	0.348214224296	0.36698	0.285089820623	0.08212	T	0.03511	0.23589	T	-0.26194	0.12673	T	-0.417064	0.31413	T	0.0724860730398844	0.08995	T	0.782222	0.41780	T	0.29056713	0.52045	0.09579453	0.22733	0.29056713	0.52045	0.09579453	0.22733	-3.577	0.17525	T	.	.	0.076	0.06024	B	.	.	2.014831	0.25599	16.82	0.99374006808188775	0.61585	0.30447	0.24085	N	AEFGBI	0.346821	0.44150	N	-0.608217994804571	0.18697	0.9727509	-0.497634234973027	0.22220	1.205757	0.981486486447589	0.30269	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.8	2.9	0.32809	0.437000	0.21261	.	.	-0.176000	0.10722	0.046000	0.21249	0.033000	0.21346	0.965000	0.52897	0.0:0.8023:0.0:0.1977	8.419	0.31853	198	0.92335	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	619.44	42	chr11	62615729	.	C	T	619.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.9;DP=214;ExcessHet=0;FS=1.206;MLEAC=1;MLEAF=0.071;MQ=58.77;MQRankSum=-2.127;QD=14.75;ReadPosRankSum=2.65;SOR=0.478	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1162	6	0	1	0
chr11	62856339	62856339	T	C	exonic	SLC3A2	.	nonsynonymous SNV	SLC3A2:NM_001012662:exon1:c.T70C:p.S24P,SLC3A2:NM_001012664:exon1:c.T70C:p.S24P,SLC3A2:NM_002394:exon1:c.T70C:p.S24P	.	427	1093	2	0	0	2	0.000914077	.	.	.	3600058	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.206	0.135332493955	.	.	6.615e-05	0	0	0	0	4.512e-05	0	0.0003	5.17e-05	8	154602	rs764761894	3.012e-05	3.078e-05	2.179e-05	3.853e-05	0.0002	2.283e-05	2.033e-05	8.887e-05	7.055e-05	0	0	0	0	3.746e-05	0.0002	2.25e-05	4.972e-05	0.0002	8.536e-05	8.53e-05	0.0001	4.027e-05	0.0002	4.954e-05	3.96e-05	0.0001	7.896e-05	0	0	0	0	0	0	0	0.0002	0	0.0002	0.0	0.91255	D	0.046	0.70582	D	0.002	0.12183	B	0.003	0.12133	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-5.03	0.99184	D	-0.51	0.21215	N	0.178	0.22742	0.580	0.91635	D	0.884	0.96155	D	9	0.059986234	0.07298	T	0.135332	0.81779	D	0.206	0.49396	0.081	0.00694	0.248133497653	0.24425	0.03327368363852103	0.03275	1.5432414244	0.87764	0.442091822624	0.30863	T	0.213909	0.57535	T	-0.197224	0.21206	T	-0.162494	0.58125	T	0.183328085498503	0.19443	T	0.459554	0.14792	T	0.13966392	0.32253	0.12390545	0.29872	0.13966392	0.32253	0.12390545	0.29872	-3.504	0.16487	T	.	.	0.061	0.05756	B	.;.;.;.	.;.;.;.	1.702847	0.21692	15.31	0.97552532575186646	0.34577	0.03524	0.08710	N	ALL	0.203748	0.33024	N	-0.947570840781274	0.09747	0.46268	-1.03139645270786	0.09098	0.4508142	0.99999999999983	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.74	0.069	0.13683	-0.011000	0.12659	.	.	0.609000	0.47794	0.000000	0.06391	0.001000	0.17328	0.004000	0.06068	0.2376:0.2609:0.0:0.5015	2.222	0.03731	804	0.43891	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	433.46	36	chr11	62856339	.	T	C	433.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.349;DP=236;ExcessHet=0;FS=1.043;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.47;ReadPosRankSum=0.581;SOR=0.892	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr11	62885478	62885478	G	T	exonic	SLC3A2	.	nonsynonymous SNV	SLC3A2:NM_001013251:exon7:c.G1013T:p.R338M,SLC3A2:NM_001012664:exon8:c.G1130T:p.R377M,SLC3A2:NM_001012662:exon10:c.G1319T:p.R440M,SLC3A2:NM_002394:exon10:c.G1316T:p.R439M	.	423	1059	37	3	0	43	0.0198982	.	.	.	738088	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.258	.	0.0015	0.00359425	0.0030	0.0003	0.0025	0	0.0026	0.0028	0.0044	0.0076	0.0027167	420	154602	rs116829615	0.0020	0.0020	0.0018	0.0023	0.0267	0.0020	0.0019	0.0233	0.0219	0.0008	0.0025	0.0021	0	0.0039	0.0267	0.0015	0.0026	0.0069	0.0019	0.0019	0.0018	0.0020	0.0054	0.0017	0.0016	0.0038	0.0032	0.0004	0	0.0027	0.0014	0	0.0040	0.0102	0.0022	0.0028	0.0054	0.077	0.42199	T	0.06	0.50809	T	0.849	0.46879	P	0.608	0.51027	P	0.052793	0.22864	N	0.470559	0.999875	0.50225	D	1.995	0.54099	M	-5.91	0.99439	D	-1.56	0.37759	N	0.332	0.38438	0.805	0.94471	D	0.942	0.98081	D	10	0.008940965	0.00202	T	.	.	.	0.692	0.88820	.	.	0.810755673742	0.80898	0.8141359971728617	0.81369	0.733038358698	0.62820	0.341537356377	0.16668	T	0.60061	0.87194	D	-0.129223	0.31621	T	0.045329	0.73276	D	0.0083581585620973	0.00101	T	0.727127	0.34152	T	0.24260016	0.47190	0.089474104	0.20926	0.24260016	0.47189	0.089474104	0.20925	-8.442	0.67387	D	.	.	0.194	0.41526	B	.;.;.;.;.	.;.;.;.;.	4.096027	0.61034	24.3	0.90343711667841153	0.19608	0.76472	0.37508	D	AEFDGBHCI	0.599319	0.59238	D	0.0127040470589235	0.42432	2.556541	-0.0203591481341204	0.38798	2.290901	0.999999999598289	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.696144	0.63334	0	0.638787	0.57140	0	.	.	4.75	3.77	0.42499	2.765000	0.47304	.	.	0.597000	0.34315	0.630000	0.27999	1.000000	0.68203	0.938000	0.47775	0.0:0.2044:0.7956:0.0	10.08	0.41556	804	0.43891	Glycosyl hydrolase, family 13, catalytic domain;Glycosyl hydrolase, family 13, catalytic domain;.;Glycosyl hydrolase, family 13, catalytic domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.026183	0.010101	0.024457	0.046784	0.000000	0.051724	0.009146	0.026515	0.07143	929.45	37	chr11	62885478	.	G	T	929.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.083;DP=268;ExcessHet=0;FS=1.845;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.781;SOR=0.456	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1220	6	0	1	0
chr11	63304760	63304760	C	T	exonic	SLC22A10	.	nonsynonymous SNV	SLC22A10:NM_001039752:exon9:c.C1469T:p.T490M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00325262861668	0.0011	0.00119808	0.0004	0.0040	0.0003	0	0	4.497e-05	0.0022	0	0.0003428	53	154602	rs193006130	0.0001	0.0001	0.0001	0.0001	0.0032	0.0001	0.0001	0.0027	0.0025	0.0032	0.0002	0	0.0002	0	0.0003	3.957e-05	0.0003	6.956e-05	0.0010	0.0010	0.0009	0.0012	0.0035	0.0009	0.0008	0.0031	0.0029	0.0035	0	0.0004	0	0	0	0	4.41e-05	0.0005	0	0.096	0.31088	T	0.246	0.23984	T	0.253	0.31246	B	0.072	0.28043	B	0.626120	0.10732	N	0.775582	1	0.08975	N	0.09	0.08384	N	-0.7	0.72785	T	-1.27	0.31981	N	0.058	0.02964	-1.0024	0.29226	T	0.138	0.45564	T	10	0.005216241	0.00113	T	0.003253	0.07177	T	0.102	0.29158	.	.	0.137902524267	0.13322	0.20231043255287465	0.20148	0.0160666637987	0.01538	0.332833647728	0.15362	T	0.03713	0.24361	T	-0.559579	0.00255	T	-0.576854	0.14826	T	0.00692639298742692	0.00078	T	0.253275	0.03871	T	0.019182282	0.00445	0.035454396	0.02801	0.019182282	0.00445	0.035454396	0.02800	-5.748	0.44119	T	.	.	0.095	0.14979	B	.	.	-1.276245	0.00458	0.010	0.80244551989520707	0.13112	0.00101	0.00653	N	AEFI	0.101141	0.20321	N	-1.48200976749695	0.01977	0.08681612	-1.65120785832175	0.01370	0.06186217	0.00447665874973656	0.10576	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	2.72	-5.44	0.02419	-3.748000	0.00423	-20.000000	0.00162	-1.264000	0.01288	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2564:0.1893:0.1275:0.4268	0.752	0.00929	794	0.45591	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.010101	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1049.44	35	chr11	63304760	.	C	T	1049.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.175;DP=370;ExcessHet=0;FS=4.165;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=0.828;SOR=0.382	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1182	6	0	1	0
chr11	64234021	64234021	G	A	exonic	DNAJC4	.	nonsynonymous SNV	DNAJC4:NM_001307980:exon5:c.G658A:p.E220K,DNAJC4:NM_001307981:exon5:c.G655A:p.E219K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00715823970857	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186620424	2.737e-06	2.736e-06	2.723e-06	2.751e-06	2.519e-05	6.4e-07	4.3e-07	.	.	0	0	0	2.519e-05	0	0	8.993e-07	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.19500	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.91	0.23283	T	-0.32	0.12283	N	0.206	0.22870	-0.9952	0.31245	T	0.033	0.14117	T	7	0.08141434	0.13324	T	0.007158	0.18979	T	0.016	0.02506	0.304	0.27325	0.104622674875	0.10061	0.293912324175219	0.29304	.	.	.	.	.	.	.	.	-0.449579	0.01136	T	-0.714438	0.05069	T	0.0150587609498875	0.00325	T	0.321368	0.06521	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.15025	B	.	.	0.342286	0.07159	3.741	0.89473415904511266	0.18827	0.04644	0.10314	N	AEFDGBCI	0.105587	0.21093	N	-1.04194648044503	0.07746	0.3608787	-1.0945134404302	0.07807	0.3812541	0.999999752222019	0.74766	0.789315	0.99827	0	0.685571	0.66316	0	0.768056	0.98339	0	0.554799	0.18163	0	.	.	4.13	1.22	0.20300	-0.143000	0.10278	0.007000	0.13381	-0.897000	0.02353	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3461:0.0:0.6539:0.0	5.714	0.17221	658	0.62094	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	139.44	33	chr11	64234021	.	G	A	139.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.21;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=1.72;SOR=1.329	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1223	6	0	1	0
chr11	64265358	64265358	T	C	exonic	PLCB3	.	nonsynonymous SNV	PLCB3:NM_001184883:exon23:c.T2690C:p.V897A,PLCB3:NM_000932:exon25:c.T2891C:p.V964A,PLCB3:NM_001316314:exon25:c.T2891C:p.V964A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00791294378071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.28148	T	0.493	0.16570	T	0.001	0.07471	B	0.007	0.12992	B	0.027160	0.25803	N	0.380225	0.855536	0.28433	N	1.935	0.51832	L	2.64	0.12780	T	-1.42	0.39503	N	0.116	0.10483	-1.0214	0.23259	T	0.023	0.09787	T	10	0.12211034	0.23158	T	0.007913	0.20981	T	0.018	0.03083	0.436	0.48828	0.236619781664	0.23270	0.17301067010046492	0.17221	0.299701892937	0.32337	0.529899775982	0.43020	T	0.318286	0.68968	T	-0.327762	0.06283	T	-0.708584	0.05369	T	0.0669284802218926	0.08214	T	0.470053	0.14216	T	0.0464116	0.07764	0.043541897	0.05439	0.0464116	0.07764	0.043541897	0.05438	-2.604	0.06853	T	.	.	0.099	0.25199	B	.;.;.	.;.;.	2.098279	0.26693	17.21	0.85159624612034412	0.15721	0.89068	0.49316	D	AEFBI	0.107614	0.21435	N	-0.716467483494333	0.15559	0.7851659	-0.620726352147576	0.18961	1.015243	0.885492120626384	0.25719	0.706548	0.73137	0	0.708844	0.79440	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	5.2	1.41	0.21461	0.314000	0.19182	-0.043000	0.12644	-0.137000	0.12594	0.009000	0.18154	0.538000	0.25400	0.284000	0.24115	0.0:0.1839:0.1688:0.6474	4.379	0.10717	658	0.62094	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	55.44	34	chr11	64265358	.	T	C	55.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.319;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.93;ReadPosRankSum=2.1;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,101,1424:.	6	0	1	0
chr11	64565306	64565306	C	T	exonic	SLC22A11	.	nonsynonymous SNV	SLC22A11:NM_001307985:exon6:c.C1027T:p.R343C,SLC22A11:NM_018484:exon6:c.C1027T:p.R343C	.	394	1124	4	0	0	4	0.0017762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.0521567223257	.	.	9.506e-05	0	0	0	0	0	0	0.0003	1.94e-05	3	154602	rs770853081	3.29e-05	3.215e-05	1.553e-05	5.074e-05	0.0001	2.522e-05	2.255e-05	4.933e-05	3.628e-05	0	2.791e-05	0	8.366e-05	0	0	2.965e-05	3.454e-05	0.0001	1.971e-05	1.97e-05	3.854e-05	0	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.159	0.27080	T	0.053	0.47336	T	0.782	0.49385	P	0.21	0.39904	B	0.000000	0.84330	D	0.000000	1	0.08975	N	1.21	0.30464	L	0.26	0.59314	T	-4.98	0.82141	D	0.261	0.33904	-0.7063	0.60134	T	0.311	0.68121	T	10	0.25815603	0.43240	T	0.052157	0.64956	D	0.255	0.56562	0.682	0.81982	0.533325340949	0.52981	0.6780354038423334	0.67742	0.364645057641	0.38079	0.48429775238	0.36648	T	0.581998	0.86326	D	-0.308629	0.07869	T	-0.380777	0.35631	T	0.462834149599075	0.31268	T	0.755224	0.37993	T	0.32172415	0.54785	0.1866347	0.41847	0.32172415	0.54785	0.1866347	0.41846	-7.069	0.54537	T	.	.	0.129	0.27583	B	.;.;.	.;.;.	1.704119	0.21705	15.31	0.95478266409570567	0.27037	0.03454	0.08601	N	AEFDBHCI	0.066630	0.13059	N	-0.573728863348398	0.19745	1.035838	-0.815644743473461	0.14116	0.7359521	0.95581317108424	0.28211	0.487112	0.14033	0	0.573888	0.26702	0	0.607795	0.38427	0	0.562822	0.20929	0	.	.	2.83	0.42	0.15663	1.186000	0.31687	-0.962000	0.06776	-0.231000	0.07715	0.256000	0.24909	0.000000	0.08366	0.002000	0.04165	0.0:0.4312:0.5688:0.0	9.546	0.38444	412	0.82007	Major facilitator superfamily domain|Major facilitator superfamily domain;.;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	360.63	30	chr11	64565306	.	C	T	360.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.826;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=2.55;SOR=0.839	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1269	6	0	1	0
chr11	64600740	64600740	C	T	exonic	SLC22A12	.	nonsynonymous SNV	SLC22A12:NM_001276327:exon7:c.C1076T:p.T359M,SLC22A12:NM_001276326:exon9:c.C1298T:p.T433M,SLC22A12:NM_144585:exon9:c.C1400T:p.T467M,SLC22A12:NM_153378:exon9:c.C737T:p.T246M	Hypouricemia, renal, Autosomal recessive	1	1503	18	0	0	18	0.00595238	.	.	.	868233	Dalmatian_hypouricemia|SLC22A12-related_disorder|not_provided	MONDO:MONDO:0020728,MedGen:C0473219,OMIM:220150|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.367	0.256691727966	7.7e-05	0.00179712	0.0014	0.0001	0.0003	0.0008	0	0.0002	0.0046	0.0081	0.0011513	178	154602	rs200104135	0.0005	0.0005	0.0004	0.0007	0.0058	0.0005	0.0005	0.0054	0.0052	0	0.0003	3.828e-05	0.0004	6.77e-05	0.0030	0.0002	0.0009	0.0058	0.0004	0.0004	0.0002	0.0007	0.0072	0.0003	0.0003	0.0054	0.0047	0.0002	0	6.532e-05	0	0.0012	0	0	0.0001	0.0019	0.0072	0.002	0.72154	D	0.076	0.59732	T	1.0	0.90584	D	0.88	0.76457	P	0.037096	0.24443	N	0.418990	0.597691	0.32511	D	2.13	0.59329	M	0.08	0.61559	T	-4.68	0.81595	D	0.796	0.79214	-0.4788	0.69410	T	0.288	0.66007	T	10	0.025063962	0.00712	T	0.256692	0.89340	D	0.367	0.68670	.	.	0.860991568236	0.85964	0.5507798908634502	0.55003	0.889622572193	0.70165	0.606148600578	0.53772	T	0.679134	0.90559	D	-0.324341	0.06549	T	-0.234805	0.51305	T	0.0838727124354833	0.10475	T	0.855114	0.54241	D	0.36221606	0.58005	0.5789989	0.75602	0.34577358	0.56736	0.53745306	0.73270	-6.695	0.55452	T	.	.	0.183	0.40889	B	.;.;.;.;.	.;.;.;.;.	3.651207	0.51821	23.2	0.99522149308898489	0.69284	0.69129	0.34066	D	AEFDBI	0.198968	0.32579	N	-0.141444679669452	0.35599	2.046873	-0.259588472748083	0.29442	1.649562	0.0213184414377857	0.13338	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.58	2.62	0.30337	0.829000	0.27102	3.294000	0.37329	-0.279000	0.06446	0.347000	0.25734	0.998000	0.33993	0.194000	0.21720	0.0:0.4665:0.5335:0.0	12.752	0.56685	460	0.78750	.;Major facilitator superfamily domain|Major facilitator superfamily domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003046	0.000000	0.000000	0.000000	0.000000	0.008621	0.009317	0.003817	0.1667	913.92	9	chr11	64600740	.	C	T	913.92	.	AC=2;AF=0.167;AN=12;DP=141;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.64;SOR=2.468	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1184	5	1	0	1
chr11	64652064	64652064	T	C	exonic	NRXN2	.	nonsynonymous SNV	NRXN2:NM_138732:exon11:c.A2387G:p.Q796R,NRXN2:NM_001376265:exon12:c.A2462G:p.Q821R,NRXN2:NM_001376262:exon13:c.A2507G:p.Q836R,NRXN2:NM_001376263:exon13:c.A2486G:p.Q829R,NRXN2:NM_001376266:exon13:c.A2483G:p.Q828R,NRXN2:NM_001376267:exon13:c.A2486G:p.Q829R,NRXN2:NM_015080:exon13:c.A2507G:p.Q836R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	0.0200233744411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.17183	T	0.014	0.62352	D	0.025	0.43152	B	0.05	0.49582	B	0.000702	0.42254	U	0.000000	0.99993	0.51612	D	0.405	0.12330	N	-1.04	0.76561	T	-1.05	0.27463	N	0.438	0.54845	-0.4524	0.70321	T	0.369	0.72910	T	10	0.43879384	0.57967	T	0.020023	0.42524	T	0.404	0.71714	0.613	0.74652	0.551875144547	0.54844	0.6330535729320733	0.63239	0.674568766465	0.59651	0.664756059647	0.62089	T	0.148065	0.48644	T	0.0610377	0.59742	T	-0.1501	0.59234	T	0.92041951417923	0.57958	D	0.858914	0.56300	D	0.177133	0.38663	0.1375287	0.32870	0.177133	0.38662	0.1375287	0.32869	-10.067	0.74312	D	.	.	0.222	0.45990	B	.;.;.;.	.;.;.;.	4.258395	0.64698	24.7	0.99811431021998509	0.89531	0.99676	0.98575	D	AEFGBI	0.936941	0.93399	D	0.239561787308596	0.53125	3.482832	0.344518351277919	0.58177	3.98686	0.999999577464029	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.8	4.8	0.61157	7.972000	0.87634	7.791000	0.68894	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	12.316	0.54282	428	0.80967	Laminin G domain|Laminin G domain|Laminin G domain;.;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	3541.24	36	chr11	64652064	.	T	C	3541.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.751;DP=579;ExcessHet=0.3476;FS=2.492;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=1.04;SOR=0.889	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1389	5	0	2	0
chr11	64790394	64790394	G	A	exonic	MAP4K2	.	nonsynonymous SNV	MAP4K2:NM_001307990:exon28:c.C2137T:p.R713C,MAP4K2:NM_004579:exon28:c.C2161T:p.R721C	.	.	.	.	.	.	.	.	0.7432	0.45	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0150045238285	0.0002	.	1.651e-05	0	0	0	0	3.003e-05	0	0	1.29e-05	2	154602	rs151089831	1.026e-05	1.094e-05	9.529e-06	1.1e-05	3.478e-05	6.16e-06	4.89e-06	9.24e-06	4.56e-06	0	2.236e-05	0	0	0	0	8.993e-06	1.656e-05	3.478e-05	2.628e-05	2.627e-05	3.854e-05	1.345e-05	4.826e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	2.94e-05	0	0	0.161	0.23813	T	0.073	0.43721	T	1.0	0.90584	D	0.971	0.72444	D	0.001343	0.39310	N	0.202353	0.999781	0.49076	D	1.875	0.49914	L	3.5	0.05014	T	-3.03	0.67705	D	0.602	0.62018	-1.1760	0.00432	T	0.043	0.18326	T	9	0.52626854	0.62927	D	0.015005	0.35490	T	0.158	0.41098	.	.	0.83609860386	0.83454	0.46599134248113777	0.46518	0.419777840034	0.42519	0.562215805054	0.47580	T	0.297713	0.67031	T	-0.117043	0.33608	T	-0.309047	0.43762	T	0.88260143995285	0.53273	D	0.783522	0.42019	T	0.09322114	0.21889	0.091927245	0.21638	0.09322114	0.21888	0.091927245	0.21637	-4.956	0.36358	T	.	.	0.148	0.32613	B	.;.	.;.	5.458435	0.91137	32	0.99306361680668553	0.58832	0.89833	0.50558	D	AEFDGBI	0.355435	0.44717	N	0.573141542258652	0.71502	5.660583	0.572157750810228	0.72952	5.891494	0.813770957997568	0.24402	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	2.013000	0.40561	11.743000	0.95236	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	14.569	0.67789	429	0.80881	Citron homology (CNH) domain|Citron homology (CNH) domain|Citron homology (CNH) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	1588.44	34	chr11	64790394	.	G	A	1588.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.82;DP=360;ExcessHet=0;FS=1.231;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=-0.291;SOR=0.832	GT:AD:DP:GQ:PL	0/1:107,66:173:99:1599,0,2658	6	0	1	0
chr11	64833739	64833739	C	T	exonic	CDC42BPG	.	nonsynonymous SNV	CDC42BPG:NM_017525:exon22:c.G2564A:p.G855E	.	426	1095	1	0	0	1	0.000456413	0.0009	0.126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.0378507692114	0.0002	0.000998403	0.0002	0.0010	0	0	0	0.0001	0	0	0.0001617	25	154602	rs370475063	9.167e-05	9.166e-05	8.441e-05	9.902e-05	0.0009	7.891e-05	7.366e-05	0.0006	0.0006	0.0009	0.0002	0	0	0	0.0007	7.014e-05	0.0002	0	0.0004	0.0004	0.0004	0.0004	0.0012	0.0003	0.0003	0.0009	0.0008	0.0012	0	0.0004	0	0	0	0	8.819e-05	0.0009	0	0.603	0.05584	T	0.581	0.08476	T	0.982	0.60036	D	0.781	0.57337	P	0.029040	0.25513	N	0.283555	0.994726	0.42392	D	1.1	0.28011	L	-0.17	0.65563	T	-0.96	0.25551	N	0.663	0.67218	-0.9099	0.46867	T	0.172	0.51325	T	10	0.13564447	0.25810	T	0.037851	0.57866	D	0.195	0.47612	.	.	0.829715715799	0.82809	0.6430396385731413	0.64238	0.960014947929	0.72969	0.704005360603	0.67723	T	0.013509	0.11669	T	-0.214017	0.18817	T	-0.115575	0.62165	T	0.0380508516337464	0.03341	T	0.794521	0.43681	T	0.1443851	0.33145	0.14100052	0.33591	0.1443851	0.33144	0.14100052	0.33591	-5.059	0.37473	T	.	.	0.188	0.40489	B	.	.	3.894094	0.56683	23.8	0.89932138549221119	0.19230	0.93698	0.58936	D	AEFGBI	0.622516	0.60680	D	0.168933878408916	0.49709	3.168464	0.230589537761048	0.51552	3.336827	0.99999782033896	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	5.18	5.18	0.71140	2.080000	0.41211	5.836000	0.50206	0.596000	0.33519	0.991000	0.37257	1.000000	0.68203	0.282000	0.24066	0.0:1.0:0.0:0.0	14.574	0.67822	309	0.87553	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	418.53	36	chr11	64833739	.	C	T	418.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.11;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=-0.498;SOR=0.675	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,117,1233	6	0	1	0
chr11	64834338	64834338	C	T	exonic	CDC42BPG	.	nonsynonymous SNV	CDC42BPG:NM_017525:exon20:c.G2341A:p.E781K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0221029341845	7.7e-05	.	3.777e-05	0	0	0	0	0	0	0.0001	2.59e-05	4	154602	rs376552956	3.309e-05	3.557e-05	3.49e-05	3.126e-05	9.8e-05	2.55e-05	2.285e-05	4.804e-05	3.534e-05	3.083e-05	0	0	0	0	0	3.47e-05	0	9.8e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.19	0.21144	T	0.162	0.31225	T	0.929	0.51690	P	0.404	0.44625	B	0.001277	0.39594	N	0.110501	0.971208	0.38854	D	2.075	0.57047	M	1.03	0.40469	T	-1.77	0.41809	N	0.451	0.48872	-1.0021	0.29313	T	0.105	0.38489	T	10	0.21460173	0.37988	T	0.022103	0.44952	T	0.078	0.22779	.	.	0.532168211543	0.52864	0.567961211843321	0.56724	0.752973457457	0.63868	0.587891995907	0.51197	T	0.037031	0.24324	T	-0.143817	0.29284	T	-0.44436	0.28320	T	0.784565985202789	0.45337	D	0.856214	0.54490	D	0.066821784	0.14414	0.13995428	0.33375	0.066821784	0.14414	0.13995428	0.33374	-8.866	0.66830	D	.	.	0.089	0.12084	B	.	.	3.027514	0.40545	21.2	0.99871063150458028	0.94902	0.46591	0.27794	N	AEFDGBI	0.162142	0.28829	N	0.0345799201869474	0.43433	2.636393	0.013212538676884	0.40328	2.404959	0.999999910715656	0.74766	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.567892	0.33627	0	.	.	5.06	4.14	0.47821	1.003000	0.29410	1.432000	0.26455	0.599000	0.40250	0.002000	0.15269	0.802000	0.26959	0.926000	0.46234	0.0:0.824:0.176:0.0	11.899	0.51950	309	0.87553	Myotonic dystrophy protein kinase, coiled coil|Myotonic dystrophy protein kinase, coiled coil	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001531	0.000000	0.000000	0.000000	0.000000	0.008621	0.006173	0.000000	0.08333	336.27	25	chr11	64834338	.	C	T	336.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.807;DP=166;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=1.55;SOR=0.498	GT:AD:DP:GQ:PL	0/0:32,0:32:90:0,90,1021	5	0	1	1
chr11	64907875	64907875	C	T	exonic	ATG2A	.	nonsynonymous SNV	ATG2A:NM_001367971:exon17:c.G2380A:p.D794N,ATG2A:NM_001367972:exon17:c.G2380A:p.D794N,ATG2A:NM_015104:exon17:c.G2380A:p.D794N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0182134436932	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1236193621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.205	0.20002	T	0.016	0.60972	D	1.0	0.90584	D	0.994	0.82059	D	0.000084	0.51296	D	0.123171	0.999952	0.52396	D	1.635	0.41844	L	0.71	0.51228	T	-2.43	0.53258	N	0.397	0.43803	-0.7610	0.57351	T	0.234	0.60112	T	10	0.30035675	0.47583	T	0.018213	0.40197	T	0.199	0.48268	0.388	0.40951	0.325139982731	0.32122	0.522286119516109	0.52151	0.386898477928	0.39976	0.704912424088	0.67854	T	0.075751	0.35252	T	-0.221742	0.17756	T	-0.556294	0.16727	T	0.947554171085358	0.62706	D	0.916508	0.70155	D	0.09759327	0.23008	0.09619529	0.22846	0.09759327	0.23007	0.09619529	0.22846	-7.776	0.59533	D	.	.	0.196	0.41693	B	.	.	4.977500	0.82420	27.8	0.99909744087132746	0.97949	0.99333	0.94632	D	AEFDGBI	0.807478	0.73151	D	0.371827039028495	0.59900	4.173493	0.426871738653538	0.63244	4.554462	0.999999519760679	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.29	4.29	0.50359	6.998000	0.76033	7.650000	0.63651	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:1.0:0.0:0.0	14.672	0.68564	289	0.88525	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	599.27	21	chr11	64907875	.	C	T	599.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.173;DP=181;ExcessHet=0;FS=4.314;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-1.109;SOR=0.25	GT:AD:DP:GQ:PL	0/1:20,28:48:99:609,0,514	5	0	1	1
chr11	65018471	65018471	G	A	exonic	ARL2	.	nonsynonymous SNV	ARL2:NM_001199745:exon2:c.G173A:p.R58Q,ARL2:NM_001667:exon2:c.G173A:p.R58Q	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	.	7.7e-05	0.000399361	0.0016	0	0.0002	0.0002	0.0266	0.0007	0.0070	0.0004	0.0010026	155	154602	rs199961468	0.0006	0.0006	0.0006	0.0006	0.0002	0.0006	0.0006	0.0001	8.798e-05	0	0	0	2.53e-05	0.0154	0	5.32e-05	0.0005	0.0002	0.0016	0.0016	0.0007	0.0026	0.0008	0.0015	0.0014	0.0003	0.0002	0	0	0	0	0	0.0222	0	0.0002	0	0.0008	0.74	0.03696	T	0.235	0.24767	T	0.004	0.12183	B	0.004	0.10090	B	0.017606	0.27680	U	0.321368	0.998606	0.45151	D	-0.04	0.05001	N	-1.58	0.81987	D	-0.81	0.36189	N	0.207	0.26596	-0.5359	0.67319	T	0.284	0.65547	T	10	0.007957667	0.00181	T	.	.	.	0.183	0.45592	.	.	0.77767829113	0.77562	0.6010256170711031	0.60033	0.320807667814	0.34285	0.665666341782	0.62219	T	0.029591	0.21170	T	-0.230794	0.16545	T	-0.224358	0.52315	T	0.0476583276111275	0.05083	T	0.919408	0.70989	D	0.23328277	0.46130	0.0845081	0.19445	0.23328277	0.46130	0.0845081	0.19445	-3.241	0.12988	T	.	.	0.098	0.17700	B	.;.;.	.;.;.	4.649716	0.74108	26.1	0.93429510970475727	0.23200	0.92835	0.56662	D	AEFBI	0.625653	0.60877	D	-0.0901197418264354	0.37824	2.206257	0.102728871146267	0.44687	2.745708	0.999977378198308	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.79	4.79	0.60909	4.095000	0.57456	11.673000	0.94126	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	15.348	0.74073	333	0.86326	Small GTP-binding protein domain;Small GTP-binding protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	2166.42	34	chr11	65018471	.	G	A	2166.42	.	AC=2;AF=0.143;AN=14;DP=249;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.09;SOR=0.869	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1285	6	1	0	0
chr11	65020487	65020487	C	A	exonic	ARL2	.	nonsynonymous SNV	ARL2:NM_001667:exon4:c.C408A:p.N136K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0239749519375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.857e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.16683	T	0.693	0.05863	T	0.053	0.22573	B	0.146	0.33945	B	0.009084	0.30522	U	0.307523	1	0.81001	D	0.45	0.12780	N	0.04	0.62051	T	-0.88	0.23808	N	0.302	0.34336	-0.8438	0.52392	T	0.095	0.35818	T	10	0.08916199	0.15420	T	0.023975	0.46960	T	0.095	0.27398	0.431	0.48007	0.337621943819	0.33374	0.23548631430463726	0.23463	0.323005519073	0.34468	0.509726285934	0.40184	T	0.037235	0.24401	T	-0.26731	0.12059	T	-0.621749	0.11049	T	0.50519186258316	0.32820	D	0.821518	0.48098	T	0.38417426	0.59616	0.16690096	0.38533	0.38417426	0.59617	0.16690096	0.38533	-5.272	0.39665	T	.	.	0.121	0.25166	B	.;.	.;.	-2.516814	0.00030	0.001	0.90273510596037709	0.19542	0.05121	0.10926	N	AEFDBI	0.125704	0.24232	N	-1.69937676962328	0.00844	0.0365089	-1.7672520640347	0.00870	0.03888167	0.999999951066951	0.74766	0.744818	0.98587	0	0.743671	0.97443	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.38	-10.8	0.00171	-3.579000	0.00474	-14.184000	0.00417	-2.914000	0.00159	0.000000	0.06391	0.000000	0.08366	0.805000	0.37950	0.0:0.6476:0.0935:0.2589	14.409	0.66672	331	0.86429	Small GTP-binding protein domain;Small GTP-binding protein domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	1004.27	35	chr11	65020487	.	C	A	1004.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.03;DP=249;ExcessHet=0;FS=3.006;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.703;SOR=1.067	GT:AD:DP:GQ:PL	0/1:43,41:84:99:1014,0,906	5	0	1	1
chr11	65046336	65046336	G	A	exonic	NAALADL1	.	nonsynonymous SNV	NAALADL1:NM_005468:exon15:c.C1708T:p.R570W	.	426	1093	3	0	0	3	0.00137049	.	.	.	2379853	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.0322433999128	0.0002	0.000199681	7.425e-05	0	0	0	0	3.002e-05	0	0.0004	6.47e-05	10	154602	rs377372068	4.788e-05	4.788e-05	3.403e-05	6.188e-05	0.0007	3.86e-05	3.54e-05	0.0003	0.0002	0	0	0	0	0	0.0007	2.068e-05	0.0002	0.0004	3.939e-05	3.937e-05	5.139e-05	2.685e-05	0.0006	1.714e-05	1.129e-05	0.0002	8.989e-05	0	0	0	0	0	0	0	4.41e-05	0	0.0006	0.001	0.78490	D	0.002	0.83351	D	0.996	0.68779	D	0.776	0.57120	P	0.000016	0.62929	D	0.110586	0.996724	0.81001	D	3.51	0.92865	H	0.92	0.44461	T	-5.8	0.89272	D	0.68	0.68690	-0.5503	0.66775	T	0.222	0.58575	T	10	0.36838457	0.53282	T	0.032243	0.54125	D	0.352	0.67326	.	.	0.692700823852	0.69006	0.6999753470941038	0.69938	0.635986766396	0.57397	0.186677008867	0.00172	T	0.45943	0.79701	T	-0.195812	0.21409	T	-0.19708	0.54922	T	0.936217188835144	0.60504	D	0.947205	0.79675	D	0.6587317	0.75831	0.40530536	0.64934	0.6587317	0.75832	0.40530536	0.64934	-10.161	0.74870	D	.	.	0.218	0.56468	B	.;.;.;.;.	.;.;.;.;.	4.652637	0.74177	26.1	0.98808069480926564	0.46574	0.93833	0.59322	D	AEFDBI	0.402445	0.47653	N	0.344285002825177	0.58438	4.016085	0.204933568693647	0.50122	3.207494	0.993699958833654	0.33317	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.604944	0.38103	0	.	.	4.6	3.67	0.41236	2.963000	0.48877	4.897000	0.45822	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.613000	0.31716	0.0:0.0:0.8259:0.1741	12.027	0.52672	328	0.86572	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1429	195.19	35	chr11	65046336	.	G	A	195.19	.	AC=2;AF=0.143;AN=14;DP=230;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=27.88;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,105,1148:.	6	1	0	0
chr11	65079664	65079664	C	T	exonic	CDCA5	.	nonsynonymous SNV	CDCA5:NM_080668:exon5:c.G367A:p.E123K	.	422	1098	2	0	0	2	0.000909918	.	.	.	724582	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.019	.	0.0083	0.00958466	0.0032	0.0318	0.0013	0	0	0.0004	0	0	0.0021863	338	154602	rs140084832	0.0009	0.0009	0.0010	0.0008	0.0277	0.0008	0.0008	0.0262	0.0257	0.0277	0.0017	0	0	0	0.0042	0.0001	0.0020	4.697e-05	0.0077	0.0077	0.0080	0.0074	0.0261	0.0073	0.0072	0.0248	0.0243	0.0261	0	0.0035	0	0	0	0.0068	0.0003	0.0076	0	0.364	0.16628	T	0.301	0.25514	T	0.106	0.26037	B	0.013	0.16460	B	0.320598	0.04072	N	1.378580	1	0.08975	N	1.825	0.47900	L	0.91	0.44856	T	-1.5	0.40660	N	0.126	0.12198	-1.0573	0.12439	T	0.033	0.13986	T	10	0.0034635663	0.00061	T	.	.	.	0.019	0.03383	.	.	0.265929055128	0.26215	0.11343057868668564	0.11271	0.531795332221	0.50662	0.353974342346	0.18506	T	0.010847	0.15918	T	-0.69774	0.00038	T	-0.754759	0.03304	T	0.00803089271355319	0.00095	T	0.487251	0.14908	T	0.048068594	0.08320	0.051486768	0.08297	0.048068594	0.08320	0.051486768	0.08296	-4.034	0.24311	T	.	.	0.070	0.09481	B	.;.	.;.	0.162745	0.05532	1.991	0.56192033338298453	0.05500	0.02124	0.06273	N	AEFBCI	.	.	.	-1.34367943676065	0.03191	0.1421239	-1.4136829686104	0.03115	0.1446539	0.999997872506436	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.0	-3.75	0.04087	-0.284000	0.08456	-0.215000	0.10817	-1.700000	0.00758	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1501:0.2412:0.0:0.6087	5.944	0.18442	333	0.86326	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.016129	0.045918	0.031250	0.011696	0.000000	0.000000	0.003067	0.000000	0.07143	151.63	34	chr11	65079664	.	C	T	151.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.04;DP=196;ExcessHet=0;FS=2.077;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.92;ReadPosRankSum=-0.101;SOR=1.256	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1244	6	0	1	0
chr11	65183167	65183167	A	G	exonic	CAPN1	.	nonsynonymous SNV	CAPN1:NM_001198868:exon3:c.A307G:p.T103A,CAPN1:NM_001198869:exon3:c.A307G:p.T103A,CAPN1:NM_005186:exon3:c.A307G:p.T103A	Spastic paraplegia 76, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	724589	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.312	.	0.0062	0.00599042	0.0015	0.0161	0.0007	0	0	0.0002	0	6.058e-05	0.0015006	232	154602	rs17885718	0.0007	0.0007	0.0007	0.0006	0.0203	0.0006	0.0006	0.0190	0.0185	0.0203	0.0011	0	0	0	0.0043	9.624e-05	0.0015	4.637e-05	0.0054	0.0054	0.0055	0.0053	0.0179	0.0051	0.0050	0.0169	0.0164	0.0179	0	0.0029	0	0	0	0.0136	0.0003	0.0057	0	0.039	0.72154	D	0.008	0.74150	D	0.805	0.45210	P	0.841	0.60228	P	0.000000	0.84330	D	0.053281	1	0.81001	D	2.37	0.68279	M	2.3	0.16953	T	-4.62	0.79143	D	0.549	0.57604	-1.0183	0.24269	T	0.063	0.26172	T	10	0.012764335	0.00273	T	.	.	.	0.312	0.63375	.	.	0.658479370467	0.65562	0.7251885963826302	0.72462	0.979952316233	0.73708	0.645923495293	0.59406	T	0.328232	0.88406	T	-0.395345	0.02484	T	-0.326382	0.41870	T	0.0631403539013446	0.07654	T	0.867913	0.66442	D	0.57082915	0.71106	0.7062007	0.82679	0.81808496	0.85093	0.8257005	0.89906	-11.377	0.81685	D	0.6025871942033217	0.66970	0.338	0.59222	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.799071	0.77957	26.8	0.99816448640622457	0.89973	0.94570	0.61596	D	AEFDGBI	0.865576	0.78470	D	0.663609289111864	0.77253	6.639121	0.617511283591788	0.76209	6.449408	0.999999999999643	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.735409	0.98432	0	.	.	4.51	4.51	0.54589	9.286000	0.95051	11.182000	0.88348	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	11.835	0.51593	411	0.82069	Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.013595	0.040404	0.024457	0.011696	0.000000	0.008621	0.003049	0.000000	0.07143	495.45	33	chr11	65183167	.	A	G	495.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.45;DP=238;ExcessHet=0;FS=1.009;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.26;ReadPosRankSum=-0.145;SOR=0.901	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1029	6	0	1	0
chr11	65965090	65965090	A	G	splicing	SART1	NM_005146:exon4:c.428-2A>G	.	.	.	.	.	.	.	.	.	.	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210828	0.74907	D	0.0650628	0.74580	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.880494	0.93928	33	0.95940929958283039	0.28244	0.96460	0.69249	D	AEFDBI	0.423990	0.48934	N	0.853141601245763	0.89286	9.909964	0.639233631014677	0.77813	6.751895	0.999907027610762	0.45458	0.631515	0.41029	0	0.697927	0.68747	0	0.608075	0.38828	0	0.491896	0.07777	0	.	.	4.0	2.86	0.32427	5.772000	0.68543	10.997000	0.84734	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8978:0.0:0.1022:0.0	7.790	0.28276	229	0.91079	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr11	65965090	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,112,1503	6	1	0	0
chr11	65966486	65966486	G	A	exonic	SART1	.	nonsynonymous SNV	SART1:NM_005146:exon9:c.G1118A:p.R373Q	.	402	1119	1	0	0	1	0.000446628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	.	0.0084	0.00778754	0.0026	0.0291	0.0008	0	0	0.0001	0	0.0002	0.0021992	340	154602	rs75194122	0.0008	0.0008	0.0009	0.0007	0.0290	0.0008	0.0008	0.0275	0.0269	0.0290	0.0011	0	0	0	0.0018	3.97e-05	0.0018	0.0002	0.0074	0.0074	0.0076	0.0072	0.0258	0.0071	0.0069	0.0245	0.0240	0.0258	0	0.0021	0	0	0	0	0.0001	0.0076	0	0.168	0.23007	T	0.264	0.22761	T	0.419	0.35307	B	0.057	0.26280	B	0.000156	0.49130	D	0.080647	0.997552	0.43985	D	1.61	0.41143	L	1.88	0.23884	T	-0.73	0.20576	N	0.471	0.50688	-1.0975	0.04407	T	0.015	0.06042	T	10	0.006131828	0.00138	T	.	.	.	0.142	0.37995	.	.	0.515658035153	0.51206	0.25248475594683534	0.25162	0.343234087858	0.36255	0.46672552824	0.34231	T	0.02317	0.17733	T	-0.571058	0.00218	T	-0.573465	0.15133	T	0.015022944564895	0.00323	T	0.907009	0.67171	D	0.04842909	0.08439	0.06141475	0.11856	0.04842909	0.08439	0.06141475	0.11856	-6.506	0.50333	T	.	.	0.080	0.07697	B	.	.	4.018000	0.59328	24.1	0.99685239441604578	0.79507	0.96428	0.69091	D	AEFDBI	0.615918	0.60268	D	0.0114123593145593	0.42373	2.551894	0.107599486668616	0.44937	2.765869	0.99120983822516	0.32408	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.02	4.02	0.45968	5.167000	0.64812	11.785000	0.96215	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1143:0.0:0.8857:0.0	8.001	0.29454	229	0.91079	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002523	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	688.63	36	chr11	65966486	.	G	A	688.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.75;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=0.697;SOR=0.698	GT:AD:DP:GQ:PL	0/1:31,26:57:99:699,0,751	6	0	1	0
chr11	66068674	66068674	-	A	exonic	SF3B2	.	frameshift insertion	SF3B2:NM_006842:exon22:c.2618dupA:p.R876Tfs*16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	.	7.508e-05	0.0002	0	0	0	4.551e-05	0.0022	0.0001	0.0016521	43	26028	rs759211171	1.029e-05	0.0005	1.502e-05	5.513e-06	1.082e-05	6.18e-06	4.9e-06	5.77e-06	4.56e-06	0	0	0	0	3.753e-05	0	1.082e-05	1.66e-05	0	6.61e-06	1.316e-05	1.291e-05	0	1.475e-05	0	0	.	.	0	0	0	0	0	0	0	1.475e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	38.4	35	chr11	66068674	.	C	CA	38.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1283	6	0	1	0
chr11	66367798	66367798	C	G	exonic	SLC29A2	.	nonsynonymous SNV	SLC29A2:NM_001532:exon6:c.G622C:p.V208L,SLC29A2:NM_001300868:exon8:c.G622C:p.V208L,SLC29A2:NM_001300869:exon8:c.G622C:p.V208L	.	418	1096	8	0	0	8	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.0316042497561	7.7e-05	.	0.0002	0.0002	0.0003	0	0	0.0002	0.0011	0.0004	0.0002717	42	154602	rs150459418	0.0002	0.0002	0.0001	0.0002	0.0028	0.0001	0.0001	0.0017	0.0014	0.0004	4.472e-05	0	0	0	0.0028	0.0001	0.0002	0.0006	0.0001	0.0001	0.0001	8.056e-05	0.0004	6.506e-05	5.318e-05	9.05e-05	7.014e-05	0	0	0.0001	0	0	0	0.0034	0.0002	0	0.0004	0.431	0.09514	T	0.633	0.07127	T	0.07	0.23866	B	0.026	0.20792	B	0.628126	0.10713	N	0.831132	0.996028	0.23136	N	0.755	0.19153	N	-0.26	0.67187	T	0.05	0.06369	N	0.35	0.39153	-1.0139	0.25688	T	0.121	0.42165	T	10	0.04368475	0.03244	T	0.031604	0.53648	D	0.036	0.09122	0.385	0.40460	0.136095386433	0.13204	0.14309667819788827	0.14232	0.120596554572	0.13580	0.272003829479	0.06404	T	0.012461	0.41198	T	-0.433622	0.01410	T	-0.496481	0.22713	T	0.0102681643343851	0.00140	T	0.50265	0.15781	T	0.03720598	0.04726	0.039624136	0.04098	0.03720598	0.04726	0.039624136	0.04098	-3.464	0.15931	T	.	.	0.097	0.15832	B	.;.;.;.;.	.;.;.;.;.	-1.243283	0.00489	0.011	0.80550828878662495	0.13256	0.18398	0.20244	N	AEFDGBCI	0.196588	0.32356	N	-1.46746009226412	0.02083	0.09161928	-1.40381359912203	0.03213	0.149446	0.999995358236298	0.74766	0.67177	0.52595	0	0.694456	0.67091	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.26	-2.05	0.06916	-3.782000	0.00413	-6.493000	0.01383	-1.696000	0.00764	0.000000	0.06391	0.000000	0.08366	0.411000	0.27028	0.1368:0.4617:0.0:0.4014	5.066	0.13923	61	0.97388	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002520	0.000000	0.004076	0.005848	0.000000	0.000000	0.000000	0.000000	0.1429	1833.44	35	chr11	66367798	.	C	G	1833.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.668;DP=341;ExcessHet=0.3476;FS=1.149;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=1.36;SOR=0.643	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	5	0	2	0
chr11	66369490	66369490	T	C	exonic	SLC29A2	.	nonsynonymous SNV	SLC29A2:NM_001532:exon3:c.A154G:p.R52G,SLC29A2:NM_001300868:exon5:c.A154G:p.R52G,SLC29A2:NM_001300869:exon5:c.A154G:p.R52G	.	392	1117	13	0	0	13	0.00578549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	0.0017	0.00539137	0.0045	0.0004	0.0007	0.0001	0.0009	0.0022	0.0067	0.0222	0.0038809	600	154602	rs146937376	0.0031	0.0031	0.0025	0.0037	0.0204	0.0030	0.0030	0.0196	0.0193	0.0004	0.0010	0.0091	0	0.0010	0.0026	0.0020	0.0036	0.0204	0.0021	0.0021	0.0019	0.0022	0.0157	0.0019	0.0018	0.0129	0.0118	0.0007	0	0.0011	0.0063	0.0002	0.0012	0.0034	0.0023	0.0014	0.0157	0.407	0.11478	T	0.398	0.16037	T	0.0	0.02946	B	0.0	0.01387	B	0.129712	0.02798	N	2.198090	1	0.08975	N	-1.11	0.00959	N	1.97	0.22067	T	0.12	0.06138	N	0.035	0.02559	-1.0169	0.24722	T	0.034	0.14726	T	10	0.0034039617	0.00060	T	.	.	.	0.022	0.04323	.	.	0.202086224978	0.19791	0.32415622875043315	0.32328	0.15498725264	0.17506	0.286808758974	0.08459	T	0.002013	0.37112	T	-0.691046	0.00041	T	-0.74916	0.03518	T	0.000969181622218029	0.00009	T	0.545245	0.18642	T	0.040499426	0.05791	0.033491585	0.02253	0.040499426	0.05790	0.033491585	0.02252	-2.603	0.06526	T	.	.	0.044	0.00045	B	.;.;.;.;.	.;.;.;.;.	0.513562	0.08826	5.602	0.62565808386946475	0.06995	0.00829	0.03338	N	AEFDGBHCI	0.027466	0.02249	N	-0.988102682698959	0.08857	0.4169128	-0.9732708604488	0.10388	0.5228717	0.999999890634199	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.85	2.87	0.32523	-0.048000	0.11898	-0.006000	0.13130	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.0:0.5806:0.1889:0.2306	4.211	0.09968	61	0.97388	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005589	0.000000	0.002725	0.000000	0.000000	0.008621	0.012346	0.015385	0.07143	55.44	35	chr11	66369490	.	T	C	55.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.385;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.24;ReadPosRankSum=0.126;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr11	66485258	66485258	C	G	exonic	DPP3	.	nonsynonymous SNV	DPP3:NM_005700:exon3:c.C356G:p.P119R,DPP3:NM_130443:exon3:c.C356G:p.P119R	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.449	0.0362001542279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.78490	D	0.024	0.74150	D	0.465	0.36447	P	0.12	0.32230	B	0.000000	0.84330	D	0.054591	0.999973	0.81001	D	3.16	0.88528	M	0.92	0.44461	T	-5.25	0.89684	D	0.83	0.83576	-0.7875	0.55875	T	0.142	0.46312	T	10	0.81421965	0.80676	D	0.036	0.56837	D	0.449	0.75004	0.676	0.81398	0.611689863146	0.60856	0.3433909211370589	0.34253	.	.	0.682778120041	0.64667	T	0.226647	0.78598	T	0.272497	0.80664	D	0.153647	0.80414	D	0.989387989044189	0.79623	D	0.971803	0.89778	D	0.723377	0.79350	0.520659	0.72306	0.723377	0.79351	0.520659	0.72306	-10.051	0.74216	D	.	.	0.261	0.55299	B	.;.;.;.;.;.	.;.;.;.;.;.	3.884481	0.56480	23.7	0.99668310232686319	0.78394	0.97537	0.75396	D	AEFBI	0.791492	0.72007	D	0.303871375545492	0.56347	3.799286	0.356859373380704	0.58921	4.065944	0.999999999918301	0.74766	0.744818	0.98587	0	0.732433	0.95613	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	5.0	0.66209	6.814000	0.75026	7.567000	0.60617	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:1.0:0.0:0.0	15.821	0.78414	57	0.97492	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	2424.65	31	chr11	66485258	.	C	G	2424.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.35;DP=267;ExcessHet=0.3476;FS=0.652;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=18.23;ReadPosRankSum=-0.625;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1061:.	5	0	2	0
chr11	66563053	66563053	G	T	exonic	ACTN3	.	stopgain	ACTN3:NM_001104:exon21:c.G2566T:p.E856X,ACTN3:NM_001258371:exon21:c.G2695T:p.E899X	.	414	1105	2	1	0	4	0.00180668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0064	0.00938498	0.0021	0.0231	0.0013	0	0	6.064e-05	0.0011	0.0001	0.0019857	307	154602	rs116281147	0.0007	0.0007	0.0008	0.0006	0.0213	0.0006	0.0006	0.0200	0.0195	0.0213	0.0017	0	0	0	0.0005	4.5e-05	0.0021	8.124e-05	0.0067	0.0067	0.0072	0.0062	0.0221	0.0064	0.0062	0.0209	0.0204	0.0221	0	0.0051	0	0	0	0	0.0002	0.0047	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.634	0.77978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283846	0.81642	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	10.458959	0.99752	47	0.99594389873383415	0.73807	0.99735	0.99069	D	AEFDGBI	0.385980	0.46652	N	.	.	.	.	.	.	0.99999999931811	0.74766	0.256867	0.04430	0	0.097471	0.02872	0	0.320204	0.05785	0	0.079188	0.02158	0	.	.	5.2	5.2	0.71720	9.982000	0.99168	5.031000	0.46827	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.026000	0.12556	0.0:0.0:1.0:0.0	16.286	0.82547	59	0.97452	EF-hand, Ca insensitive;EF-hand, Ca insensitive	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.015152	0.012228	0.008772	0.000000	0.000000	0.000000	0.000000	0.07143	1228.45	35	chr11	66563053	.	G	T	1228.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.841;DP=253;ExcessHet=0;FS=5.222;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.47;ReadPosRankSum=0.797;SOR=0.965	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	6	0	1	0
chr11	66563054	66563054	A	T	exonic	ACTN3	.	nonsynonymous SNV	ACTN3:NM_001104:exon21:c.A2567T:p.E856V,ACTN3:NM_001258371:exon21:c.A2696T:p.E899V	.	414	1105	2	1	0	4	0.00180668	.	.	.	3190315	ACTN3-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	0.0063	0.00938498	0.0021	0.0231	0.0013	0	0	6.063e-05	0.0011	0.0001	0.0019922	308	154602	rs115296201	0.0007	0.0007	0.0008	0.0006	0.0213	0.0006	0.0006	0.0200	0.0195	0.0213	0.0017	0	0	0	0.0005	4.41e-05	0.0021	8.123e-05	0.0067	0.0067	0.0072	0.0062	0.0221	0.0064	0.0062	0.0209	0.0205	0.0221	0	0.0051	0	0	0	0	0.0002	0.0047	0.0004	.	.	.	0.001	0.83351	D	0.994	0.66517	D	0.991	0.79672	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.853	0.84922	.	.	.	.	.	.	.	0.009884447	0.00222	T	.	.	.	.	.	.	.	0.646350757152	0.64342	0.7504966179303331	0.74996	.	.	0.645227849483	0.59308	T	0.459541	0.79708	T	-0.160021	0.26755	T	0.0149499	0.71302	D	.	.	.	0.974702	0.91007	D	0.27640337	0.50702	0.47784647	0.69751	0.27640337	0.50702	0.47784647	0.69751	-14.377	0.94217	D	.	.	0.275	0.50826	B	.;.	.;.	3.782532	0.54398	23.5	0.99095770884811507	0.52346	0.99237	0.93252	D	AEFDGBI	0.941115	0.94395	D	.	.	.	.	.	.	0.99999951500543	0.74766	0.256867	0.04430	0	0.097471	0.02872	0	0.320204	0.05785	0	0.079188	0.02158	0	.	.	5.2	5.2	0.71720	7.417000	0.79365	6.869000	0.56783	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.027000	0.12703	1.0:0.0:0.0:0.0	13.074	0.58490	59	0.97452	EF-hand, Ca insensitive;EF-hand, Ca insensitive	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.008056	0.015152	0.012228	0.008772	0.000000	0.000000	0.000000	0.000000	0.07143	1228.45	35	chr11	66563054	.	A	T	1228.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.001;DP=253;ExcessHet=0;FS=5.222;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.47;ReadPosRankSum=0.63;SOR=0.965	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	6	0	1	0
chr11	66813986	66813986	T	C	exonic	C11orf80	.	nonsynonymous SNV	C11orf80:NM_001302084:exon8:c.T665C:p.I222T,C11orf80:NM_024650:exon10:c.T1160C:p.I387T	.	426	1094	1	1	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0058	0.00798722	0.0017	0.0187	0.0011	0	0	4.552e-05	0.0011	6.141e-05	0.0016494	255	154602	rs76978816	0.0005	0.0005	0.0006	0.0005	0.0174	0.0005	0.0005	0.0162	0.0158	0.0174	0.0013	0	0	0	0.0003	5.038e-05	0.0015	6.958e-05	0.0053	0.0053	0.0057	0.0049	0.0176	0.0050	0.0049	0.0165	0.0161	0.0176	0	0.0039	0	0	0	0	0.0001	0.0038	0.0002	0.088	0.32296	T	0.246	0.26631	T	0.003	0.12183	B	0.001	0.04355	B	0.786500	0.06685	N	1.113020	1	0.08975	N	.	.	.	1.37	0.34253	T	-1.12	0.39119	N	0.306	0.36254	-1.0305	0.20292	T	0.013	0.05273	T	10	0.0035011172	0.00062	T	.	.	.	0.016	0.02506	.	.	0.0954503805726	0.09146	0.09693965474859834	0.09625	0.080175271313	0.09021	.	.	.	.	.	.	-0.677906	0.00049	T	-0.732262	0.04226	T	0.0031444371425775	0.00033	T	0.727427	0.34191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.33319	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.887542	0.12611	9.136	0.67440781834770713	0.08355	0.02394	0.06790	N	AEFBI	0.042026	0.06468	N	-1.26478089256686	0.04107	0.1847628	-1.22673943303889	0.05484	0.2614143	0.0132615260979116	0.12441	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	6.17	-1.52	0.08181	-0.148000	0.10203	0.464000	0.18647	0.665000	0.62972	0.015000	0.19116	0.243000	0.23865	0.891000	0.42908	0.0:0.2903:0.2824:0.4273	5.036	0.13776	312	0.87382	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.006042	0.015152	0.008152	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	393.49	33	chr11	66813986	.	T	C	393.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.06;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=0.198;SOR=0.527	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1138	6	0	1	0
chr11	66843022	66843022	G	A	exonic	C11orf80	.	nonsynonymous SNV	C11orf80:NM_001302084:exon14:c.G1423A:p.G475S,C11orf80:NM_024650:exon16:c.G1921A:p.G641S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00580028089454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.834	0.02921	T	0.15	0.32891	T	0.032	0.20242	B	0.011	0.15521	B	0.993912	0.08012	N	0.996046	1	0.08975	N	.	.	.	1.44	0.32722	T	-0.72	0.21644	N	0.106	0.11054	-0.9972	0.30701	T	0.036	0.15465	T	10	0.043151706	0.03135	T	0.006	0.15072	T	0.016	0.02506	.	.	0.0716867268079	0.06686	0.06859841137897273	0.06797	0.0639183106118	0.07121	.	.	.	.	.	.	-0.328808	0.06202	T	-0.710086	0.05290	T	0.0384207020404553	0.03407	T	0.532847	0.18126	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.20117	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.394865	0.07661	4.333	0.83363077271724895	0.14685	0.00996	0.03776	N	ALL	0.033034	0.03844	N	-1.4180474420257	0.02480	0.1095864	-1.43578591089294	0.02901	0.1343383	0.999999716037385	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.51	0.362	0.15348	-0.058000	0.11707	-0.313000	0.10024	-0.777000	0.03376	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2349:0.1932:0.5719:0.0	4.065	0.09334	423	0.81269	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	154.83	28	chr11	66843022	.	G	A	154.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.044;DP=143;ExcessHet=0;FS=7.613;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=-0.042;SOR=2.584	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	6	0	1	0
chr11	66863811	66863811	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon10:c.G1331A:p.S444N,PC:NM_000920:exon11:c.G1331A:p.S444N,PC:NM_001040716:exon12:c.G1331A:p.S444N	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0403761480499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07746	T	0.513	0.10821	T	0.001	0.07471	B	0.006	0.12133	B	0.000002	0.62929	D	0.096468	0.999867	0.50061	D	0.27	0.09956	N	-1.49	0.81235	T	0.25	0.04456	N	0.597	0.61596	-0.7183	0.59546	T	0.281	0.65280	T	10	0.371042	0.53477	T	0.040376	0.59342	D	0.340	0.66202	0.353	0.35246	0.417919123248	0.41407	.	.	0.828852337507	0.67540	0.812464594841	0.83870	D	0.306455	0.67866	T	-0.0390994	0.46083	T	-0.29394	0.45361	T	0.607176721096039	0.36687	D	0.939506	0.77539	D	0.16597606	0.36904	0.18945736	0.42293	0.16597606	0.36904	0.18945736	0.42293	-5.616	0.42938	T	0.0686599878140657	0.02511	0.139	0.30370	B	.;.;.;.;.	.;.;.;.;.	2.999539	0.40076	21.1	0.94205998637530508	0.24445	0.96446	0.69180	D	AEFDGBI	0.747219	0.68934	D	-0.12521594567028	0.36297	2.09615	0.0861861627878325	0.43852	2.678501	0.999999992442072	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	5.305000	0.65541	7.502000	0.59501	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8337:0.1663:0.0	12.661	0.56177	297	0.88113	Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	563.75	59	chr11	66863811	.	C	T	563.75	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.271;DP=485;ExcessHet=4.7409;FS=172.665;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=1.36;ReadPosRankSum=1.02;SOR=9.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,43:117:99:.:.:155,0,1166:.	2	0	5	0
chr11	67219331	67219331	-	G	exonic	KDM2A	.	frameshift insertion	KDM2A:NM_012308:exon10:c.886dupG:p.N298Qfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	34.4	33	chr11	67219331	.	T	TG	34.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.73;ReadPosRankSum=0.842;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1109	6	0	1	0
chr11	67308216	67308216	C	T	exonic	SSH3	.	stopgain	SSH3:NM_017857:exon9:c.C928T:p.Q310X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	0.0001	0	0.0006	0	0	0.0001	0	0	9.7e-05	15	154602	rs201982384	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0008	0.0007	5.974e-05	0.0010	0	0	0	0	0.0001	0.0003	0	8.539e-05	8.536e-05	0.0001	6.723e-05	0.0003	4.955e-05	3.961e-05	8.874e-05	5.384e-05	2.412e-05	0	0.0003	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.012910	0.29014	N	0.232099	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333543	0.85402	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.746382	0.97967	38	0.99735649913588553	0.83119	0.93123	0.57387	D	AEFDGBI	0.152264	0.27691	N	0.956971697056864	0.94258	12.62005	0.783403902063007	0.88617	9.649635	0.999999985353673	0.74766	0.732398	0.92422	0	0.547309	0.14657	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	5.51	3.45	0.38602	2.902000	0.48401	4.751000	0.44659	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.816000	0.38450	0.0:0.6648:0.3352:0.0	13.893	0.63255	397	0.82902	DEK, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	887.46	33	chr11	67308216	.	C	T	887.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.334;DP=236;ExcessHet=0;FS=4.931;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.819;SOR=0.717	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1051	6	0	1	0
chr11	67409501	67409501	G	A	exonic	TBC1D10C	.	nonsynonymous SNV	TBC1D10C:NM_001369495:exon9:c.G785A:p.R262Q,TBC1D10C:NM_001369496:exon9:c.G1088A:p.R363Q,TBC1D10C:NM_001369498:exon9:c.G1112A:p.R371Q,TBC1D10C:NM_001369494:exon10:c.G785A:p.R262Q,TBC1D10C:NM_001369497:exon10:c.G1088A:p.R363Q,TBC1D10C:NM_198517:exon10:c.G1088A:p.R363Q	.	424	1030	61	7	0	75	0.0351288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0013	0.00519169	0.0103	0.0020	0	0	0	0.0107	0.0076	0.0112	0.002044	316	154602	rs149140675	0.0037	0.0036	0.0034	0.0040	0.0475	0.0036	0.0036	0.0427	0.0409	0.0019	0.0048	0.0117	0.0004	0.0040	0.0475	0.0027	0.0075	0.0104	0.0038	0.0038	0.0037	0.0040	0.0110	0.0036	0.0035	0.0086	0.0078	0.0006	0	0.0065	0.0141	0.0006	0.0030	0.0272	0.0042	0.0147	0.0110	0.168	0.23007	T	0.265	0.22694	T	0.002	0.09854	B	0.002	0.06944	B	0.474252	0.12241	N	0.688838	1	0.28947	N	.	.	.	3.27	0.06602	T	-0.5	0.15782	N	0.114	0.10198	-0.9866	0.33445	T	0.008	0.02720	T	10	0.0037960112	0.00071	T	.	.	.	0.016	0.02506	.	.	0.12205267543	0.11705	0.2705067848096566	0.26963	.	.	0.376769483089	0.21798	T	0.024103	0.18278	T	-0.691135	0.00041	T	-0.756149	0.03253	T	0.000306898303968616	0.00002	T	0.721228	0.33447	T	0.039088134	0.05330	0.053378228	0.08979	0.039088134	0.05330	0.053378228	0.08978	-4.807	0.34673	T	.	.	0.067	0.02458	B	.	.	0.956254	0.13325	9.829	0.95951858910698251	0.28275	0.01645	0.05289	N	ALL	0.026810	0.02078	N	-1.26242745027156	0.04137	0.1861875	-1.32657734763861	0.04090	0.1921831	0.999999999997694	0.74766	0.580535	0.33130	0	0.52208	0.09955	0	0.603688	0.36954	0	0.604944	0.38103	0	.	.	4.92	-2.56	0.05903	-0.133000	0.10430	0.285000	0.16810	-0.135000	0.12811	0.002000	0.15269	0.136000	0.23046	0.070000	0.16646	0.5777:0.0:0.2774:0.1449	6.093	0.19226	580	0.69689	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.050184	0.024096	0.080935	0.060510	0.062500	0.052083	0.031008	0.031250	0.1429	729.05	26	chr11	67409501	.	G	A	729.05	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.782;DP=149;ExcessHet=0.3476;FS=2.449;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=1.42;SOR=0.385	GT:AD:DP:GQ:PL	0/0:26,0:26:78:0,78,781	5	0	2	0
chr11	67451504	67451527	CTGTGGCTGGGCCACAGAATCTGA	-	exonic	GPR152	.	nonframeshift deletion	GPR152:NM_206997:exon1:c.1198_1221del:p.S400_Q407del	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	9.773e-05	8.661e-05	0	0.0003	0.0006	0	6.058e-05	0.0001153	3	26028	rs777806211	0.0005	0.0005	0.0005	0.0004	0.0006	0.0004	0.0004	0.0005	0.0005	0.0002	6.708e-05	0	0	0.0003	0.0002	0.0006	0.0002	0.0001	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	7.239e-05	0	0	0	0	0.0002	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1282.5	37	chr11	67451503	.	CCTGTGGCTGGGCCACAGAATCTGA	C	1282.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.62;DP=272;ExcessHet=0;FS=4.431;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=-0.439;SOR=1.295	GT:AD:DP:GQ:PL	0/1:46,34:80:99:1293,0,1825	6	0	1	0
chr11	67452457	67452457	C	T	exonic	GPR152	.	nonsynonymous SNV	GPR152:NM_206997:exon1:c.G268A:p.E90K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434	0.0379063823426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	6.84e-07	0	1.377e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.735	0.03753	T	0.0	0.92824	D	0.997	0.70673	D	0.953	0.69275	D	0.001152	0.40056	N	0.000000	1	0.81001	D	1.895	0.50365	L	-0.59	0.71543	T	-0.98	0.25986	N	0.652	0.66272	-0.4801	0.69362	T	0.402	0.75324	T	10	0.80385715	0.79750	D	0.037906	0.57903	D	0.434	0.73951	0.752	0.88237	0.81997632753	0.81828	0.7508817662222028	0.75035	1.02109504773	0.75126	0.714601635933	0.69260	T	0.007559	0.06959	T	0.19476	0.73403	D	0.0419827	0.73057	D	0.808392703533173	0.46934	D	0.751525	0.37371	T	0.3831153	0.59541	0.28390306	0.54386	0.3831153	0.59541	0.28390306	0.54385	-5.909	0.45512	T	.	.	0.910	0.83461	P	.	.	4.690783	0.75159	26.3	0.99884356588752732	0.95970	0.40551	0.26462	N	AEFDGBCI	0.325208	0.42686	N	0.18852037197757	0.50648	3.252819	0.145050927161184	0.46881	2.926902	0.999999845459414	0.74766	0.421363	0.06395	0	0.550933	0.16991	0	0.578056	0.29568	0	0.618803	0.45993	0	.	.	4.91	4.91	0.63897	-0.185000	0.09679	7.686000	0.65553	0.599000	0.40250	0.000000	0.06391	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	15.621	0.76557	693	0.58582	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	567.49	30	chr11	67452457	.	C	T	567.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.768;DP=232;ExcessHet=0;FS=1.024;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=0.507;SOR=0.532	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	6	0	1	0
chr11	67467357	67467357	G	A	exonic	TMEM134	.	nonsynonymous SNV	TMEM134:NM_001078650:exon4:c.C361T:p.R121C,TMEM134:NM_001078651:exon4:c.C334T:p.R112C,TMEM134:NM_025124:exon4:c.C361T:p.R121C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00561440560184	7.7e-05	.	8.302e-06	9.839e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs371527066	5.473e-06	5.472e-06	5.446e-06	5.501e-06	0.0001	2.36e-06	1.7e-06	5.849e-05	3.758e-05	0.0001	0	0	0	1.874e-05	0	0	0	2.319e-05	3.942e-05	3.94e-05	6.422e-05	1.345e-05	0.0001	1.715e-05	1.129e-05	6.282e-05	4.299e-05	0.0001	0	0	0	0	0	0	0	0	0	0.028	0.51853	D	0.011	0.66756	D	0.004	0.12183	B	0.003	0.08700	B	0.002525	0.36389	N	0.218810	0.994526	0.42315	D	1.845	0.48678	L	.	.	.	-0.72	0.24244	N	0.353	0.44666	-0.9969	0.30783	T	0.135	0.44875	T	9	0.2086421	0.37200	T	0.005614	0.14500	T	0.074	0.21613	.	.	0.154104182512	0.14974	0.561181125651518	0.56045	0.0995731962095	0.11238	0.271081268787	0.06282	T	0.036941	0.24290	T	-0.174278	0.24590	T	-0.251446	0.49673	T	0.189879573650178	0.19837	T	0.873413	0.58193	D	0.08098205	0.18584	0.06916918	0.14538	0.08098205	0.18584	0.06916918	0.14537	-5.562	0.42444	T	.	.	0.089	0.12323	B	.;.	.;.	3.464818	0.48308	22.6	0.96880380745361561	0.31457	0.35688	0.25360	N	AEFBCI	0.159708	0.28555	N	-0.480718849282196	0.22714	1.214745	-0.41165813171206	0.24655	1.351332	0.998357588977531	0.36814	0.660085	0.49399	0	0.662677	0.63036	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	4.37	2.48	0.29194	2.630000	0.46160	2.133000	0.30793	0.606000	0.46413	1.000000	0.71638	0.989000	0.31174	0.989000	0.64315	0.2268:0.0:0.7732:0.0	6.715	0.22484	721	0.55360	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	676.49	44	chr11	67467357	.	G	A	676.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.04;DP=201;ExcessHet=0;FS=1.189;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.37;ReadPosRankSum=-1.294;SOR=0.495	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1140	6	0	1	0
chr11	68262469	68262469	G	A	exonic	C11orf24	.	nonsynonymous SNV	C11orf24:NM_022338:exon4:c.C526T:p.R176W	.	432	1089	1	0	0	1	0.000458926	.	.	.	2363284	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.050	0.00743372825704	0.0006	0.000599042	0.0006	0.0002	0.0009	0	0	0.0009	0	0.0002	0.0006727	104	154602	rs146708926	0.0013	0.0013	0.0013	0.0012	0.0015	0.0012	0.0012	0.0015	0.0014	0.0002	0.0011	3.826e-05	2.519e-05	3.75e-05	0.0005	0.0015	0.0011	0.0004	0.0009	0.0009	0.0007	0.0010	0.0025	0.0008	0.0007	0.0019	0.0017	0.0001	0	0.0025	0	0	9.409e-05	0	0.0012	0.0019	0.0002	0.012	0.54683	D	0.017	0.60337	D	0.003	0.11197	B	0.001	0.04355	B	0.000089	0.00436	N	5.910790	1	0.08975	N	0	0.06538	N	1.43	0.32958	T	-0.67	0.19297	N	0.059	0.03069	-1.0078	0.27603	T	0.032	0.13811	T	10	0.0075229704	0.00171	T	0.007434	0.19712	T	0.050	0.13987	.	.	0.0138822411134	0.00435	0.15490105745845698	0.15411	0.0511898359225	0.05630	.	.	.	0.003101	0.02504	T	-0.623796	0.00104	T	-0.672181	0.07469	T	0.00976282824097193	0.00128	T	0.480552	0.14510	T	0.04633058	0.07737	0.0312209	0.01680	0.04633058	0.07737	0.0312209	0.01680	-5.593	0.42728	T	.	.	0.099	0.16670	B	.	.	1.275655	0.16750	12.74	0.88819166751791112	0.18281	0.08351	0.14291	N	AEFDBHCI	0.199900	0.32667	N	-1.63529928040788	0.01098	0.04768237	-1.62493706457054	0.01510	0.06839699	0.998760111791242	0.37623	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.24	-1.76	0.07574	0.302000	0.18947	1.238000	0.25088	-0.206000	0.08541	0.000000	0.06391	0.004000	0.18990	0.000000	0.00833	0.2152:0.0:0.4558:0.3289	5.542	0.16331	528	0.73785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001008	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	503.63	41	chr11	68262469	.	G	A	503.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.236;DP=257;ExcessHet=0;FS=1.412;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.74;ReadPosRankSum=0.837;SOR=0.741	GT:AD:DP:GQ:PL	0/0:71,0:71:99:0,120,1800	6	0	1	0
chr11	68262622	68262639	TGGAGGCCGCAGTCGTAA	-	exonic	C11orf24	.	nonframeshift deletion	C11orf24:NM_022338:exon4:c.356_373del:p.I119_S124del	.	427	1087	8	0	0	8	0.00366636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	9.713e-05	0.0003	0	0	9.065e-05	0.0011	0.0053	0.0006468	100	154602	rs748557353	0.0004	0.0004	0.0002	0.0006	0.0058	0.0004	0.0004	0.0054	0.0052	5.975e-05	2.237e-05	0	2.519e-05	1.874e-05	0.0012	4.587e-05	0.0005	0.0058	0.0001	0.0001	5.146e-05	0.0002	0.0039	9.155e-05	7.709e-05	0.0026	0.0021	0	0	6.541e-05	0	0	0	0	1.471e-05	0	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3675.2	43	chr11	68262621	.	CTGGAGGCCGCAGTCGTAA	C	3675.2	.	AC=2;AF=0.143;AN=14;DP=386;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=28.7;SOR=0.818	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	1	0	0
chr11	69085836	69085848	CTGCCCCCGCAGG	-	exonic	TPCN2	.	frameshift deletion	TPCN2:NM_139075:exon22:c.1921delG:p.A641Lfs*9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1430.5	34	chr11	69085835	.	TCTGCCCCCGCAGG	T	1430.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.97;DP=259;ExcessHet=0;FS=1.912;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.07;ReadPosRankSum=-0.2;SOR=0.99	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr11	70087990	70087990	C	T	exonic	ANO1	.	nonsynonymous SNV	ANO1:NM_001378094:exon2:c.C347T:p.P116L,ANO1:NM_001378095:exon2:c.C347T:p.P116L,ANO1:NM_001378096:exon2:c.C347T:p.P116L,ANO1:NM_001378097:exon2:c.C347T:p.P116L,ANO1:NM_018043:exon2:c.C347T:p.P116L,ANO1:NM_001378092:exon3:c.C470T:p.P157L,ANO1:NM_001378093:exon3:c.C347T:p.P116L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0255439794803	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs758244027	4.948e-06	6.156e-06	4.19e-06	5.723e-06	5.139e-05	2.06e-06	1.32e-06	8.52e-06	3.19e-06	0	5.139e-05	0	0	0	0	4.598e-06	0	0	6.584e-06	6.568e-06	0	1.348e-05	.	0	0	.	.	0	0	0	0	0	9.455e-05	0	0	0	0	0.031	0.52492	D	0.157	0.47336	T	0.109	0.31569	B	0.026	0.21939	B	0.534985	0.11597	N	0.781135	1	0.30691	N	2.175	0.60977	M	1.6	0.28604	T	-3.19	0.77965	D	0.127	0.23632	-1.0210	0.23389	T	0.067	0.27674	T	9	0.123719454	0.23490	T	0.025544	0.48513	D	0.044	0.11924	0.251	0.18912	0.209943299407	0.20609	0.23437282977103754	0.23352	0.42200000603	0.42705	0.48793143034	0.37152	T	0.443411	0.78721	T	-0.220358	0.17943	T	-0.554305	0.16914	T	0.195093706250191	0.20140	T	0.916908	0.70254	D	0.09514782	0.22385	0.08757211	0.20363	0.09514782	0.22385	0.08757211	0.20362	-3.376	0.24162	T	.	.	0.075	0.09288	B	.;.;.	.;.;.	2.362223	0.30299	18.39	0.98846797150427201	0.47220	0.28766	0.23643	N	AEFDBHCI	0.165299	0.29178	N	-0.538781600682713	0.20836	1.101443	-0.600260877972194	0.19486	1.045709	0.98708570168689	0.31181	0.658043	0.49183	0	0.59043	0.45803	0	0.659943	0.59835	0	0.567892	0.33627	0	.	.	3.91	2.8	0.31881	2.075000	0.41163	2.136000	0.30812	0.524000	0.24156	0.009000	0.18154	0.024000	0.20971	0.010000	0.09038	0.4784:0.5216:0.0:0.0	8.673	0.33325	912	0.21483	Anoctamin, dimerisation domain;Anoctamin, dimerisation domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1443.63	46	chr11	70087990	.	C	T	1443.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.704;DP=353;ExcessHet=0;FS=5.593;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-0.732;SOR=1.176	GT:AD:DP:GQ:PL	0/1:58,63:121:99:1454,0,1223	6	0	1	0
chr11	71485638	71485638	G	A	exonic	NADSYN1	.	nonsynonymous SNV	NADSYN1:NM_018161:exon16:c.G1552A:p.V518M	.	.	.	.	.	.	.	.	.	.	.	4034111	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.216	0.030736740883	.	.	4.722e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs770094071	5.851e-05	6.156e-05	6.056e-05	5.64e-05	0.0001	4.808e-05	4.418e-05	6.75e-05	5.124e-05	0	0.0001	0	0	0	0	6.205e-05	1.721e-05	0.0001	1.972e-05	1.97e-05	2.57e-05	1.345e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.001	0.78490	D	0.002	0.83351	D	0.914	0.50529	P	0.737	0.55577	P	0.000256	0.46924	D	0.084489	0.999999	0.58761	D	3.17	0.88688	M	0.97	0.46777	T	-2.99	0.62343	D	0.812	0.81758	-0.2665	0.75908	T	0.306	0.67649	T	10	0.6039945	0.67071	D	0.030737	0.52983	D	0.216	0.50959	0.472	0.54699	0.679952891098	0.67723	0.8844807822872989	0.88416	0.562677150329	0.52729	0.86423689127	0.91734	D	0.210159	0.60989	T	-0.0822536	0.39349	T	-0.0914997	0.64049	T	0.842780888080597	0.49555	D	0.987726	0.95824	D	0.7015593	0.78141	0.48744112	0.70338	0.7015593	0.78143	0.48744112	0.70338	-10.211	0.75164	D	0.5594833717404474	0.62736	0.210	0.60324	B	.;.;.	.;.;.	5.177021	0.86786	29.0	0.99861267400868559	0.94002	0.98624	0.84831	D	AEFBI	0.902739	0.85098	D	0.672807700713385	0.77853	6.754984	0.597330167343286	0.74745	6.190054	0.999914744552966	0.45857	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	3.98	3.98	0.45383	9.007000	0.93130	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	13.937	0.63537	628	0.65206	NAD/GMP synthase;.;NAD/GMP synthase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1831.44	33	chr11	71485638	.	G	A	1831.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.828;DP=268;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=0.019;SOR=0.741	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,104,1088	5	0	2	0
chr11	72018230	72018230	G	A	exonic	NUMA1	.	nonsynonymous SNV	NUMA1:NM_006185:exon12:c.C931T:p.R311C,NUMA1:NM_001286561:exon13:c.C931T:p.R311C	Leukemia, acute promyelocytic, somatic	422	1092	8	0	0	8	0.00364964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.105483975382	0.0003	0.000199681	0.0005	9.61e-05	8.637e-05	0	0	0.0005	0	0.0016	0.0004075	63	154602	rs139359161	0.0003	0.0003	0.0003	0.0004	0.0023	0.0003	0.0003	0.0013	0.0011	0.0002	0.0002	0	0	3.744e-05	0.0023	0.0003	0.0006	0.0010	0.0003	0.0003	0.0002	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0001	0	0	0	0	0.0004	0.0024	0.0002	0.001	0.91255	D	0.007	0.83351	D	1.0	0.90584	D	0.998	0.92359	D	0.000001	0.84330	D	0.000000	0.999369	0.46798	D	2.67	0.78151	M	1.93	0.60973	T	-3.68	0.82341	D	0.557	0.58713	-0.2672	0.75888	T	0.361	0.72262	T	10	0.043380916	0.03182	T	0.105484	0.78062	D	0.259	0.57090	.	.	0.681978304311	0.67926	0.28157395928230106	0.28070	1.1501580295	0.79175	0.62627863884	0.56617	T	0.349035	0.73358	T	-0.132138	0.31151	T	0.00733731	0.70811	D	0.0744947297370672	0.09267	T	0.976702	0.92496	D	0.57479817	0.71323	0.37705445	0.62814	0.57479817	0.71324	0.37705445	0.62814	-7.051	0.56302	T	.	.	0.379	0.58375	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.364748	0.89958	31	0.99891530006459128	0.96513	0.92027	0.54783	D	AEFDGBCI	0.696705	0.65495	D	0.346426547617499	0.58550	4.028038	0.290245974325366	0.54969	3.660528	0.99998566360079	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.48	4.56	0.55644	3.775000	0.55055	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:0.1357:0.8643:0.0	15.935	0.79482	533	0.73433	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.015152	0.004076	0.000000	0.000000	0.000000	0.006098	0.003788	0.07143	1255.44	39	chr11	72018230	.	G	A	1255.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.75;DP=309;ExcessHet=0;FS=0.682;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=-1.084;SOR=0.795	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1277	6	0	1	0
chr11	72095011	72095011	G	C	exonic	LRTOMT	.	nonsynonymous SNV	LRTOMT:NM_001205138:exon4:c.G298C:p.G100R,LRTOMT:NM_001145307:exon5:c.G352C:p.G118R,LRTOMT:NM_001271471:exon5:c.G352C:p.G118R,LRTOMT:NM_001318803:exon5:c.G352C:p.G118R,LRTOMT:NM_145309:exon5:c.G352C:p.G118R	Deafness, autosomal recessive 63, Autosomal recessive	0	1513	8	1	0	10	0.00329381	.	.	.	230229	Autosomal_recessive_nonsyndromic_hearing_loss_63|not_specified|not_provided|LRTOMT-related_disorder	MONDO:MONDO:0012670,MedGen:C1969621,OMIM:611451,Orphanet:90636|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.114	.	0.0053	0.00359425	0.0049	0.0021	0.0022	0	0.0127	0.0068	0.0066	0.0004	0.0050452	780	154602	rs149637884	0.0064	0.0064	0.0066	0.0062	0.0074	0.0063	0.0063	0.0072	0.0072	0.0010	0.0030	0.0017	0	0.0114	0.0042	0.0074	0.0058	0.0006	0.0045	0.0045	0.0043	0.0047	0.0060	0.0042	0.0041	0.0054	0.0052	0.0015	0	0.0060	0.0020	0	0.0111	0.0034	0.0058	0.0047	0.0002	0.166	0.24758	T	0.497	0.11299	T	0.01	0.27266	B	0.01	0.24832	B	0.080132	0.20943	N	0.501814	1	0.81001	D	2.155	0.60227	M	-0.21	0.66294	T	-0.69	0.21215	N	0.367	0.41853	-1.0368	0.18295	T	0.083	0.32440	T	10	0.008438677	0.00191	T	.	.	.	0.114	0.32008	0.379	0.39482	0.480574121323	0.47689	.	.	.	.	0.459091573954	0.33186	T	0.007208	0.06625	T	-0.367302	0.03733	T	-0.294124	0.45343	T	0.00326756443632443	0.00034	T	0.905209	0.74506	D	.	.	.	.	.	.	.	.	-8.945	0.68261	D	0.10690774698806924	0.08643	0.160	0.43116	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	2.973222	0.39636	21.0	0.87029333014338728	0.16939	0.79943	0.39717	D	AEFDGBCIJ	0.274436	0.38962	N	-0.504449875041368	0.21935	1.167774	-0.350621122489587	0.26489	1.46349	0.999996507289428	0.74766	0.536635	0.22144	0	0.577304	0.33150	0	0.489635	0.07774	0	0.636168	0.56350	0	.	.	5.45	3.23	0.36150	1.556000	0.35895	3.812000	0.39914	-0.161000	0.11593	1.000000	0.71638	1.000000	0.68203	0.333000	0.25271	0.1889:0.0:0.6484:0.1627	5.553	0.16386	557	0.71576	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	DHCR7	Cells_EBV-transformed_lymphocytes	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.010101	0.004076	0.000000	0.000000	0.017241	0.009146	0.000000	0.07143	393.53	45	chr11	72095011	.	G	C	393.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.897;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=-1.326;SOR=0.653	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1301	6	0	1	0
chr11	73308982	73308982	C	T	exonic	ARHGEF17	.	nonsynonymous SNV	ARHGEF17:NM_014786:exon1:c.C344T:p.A115V	.	429	1017	70	6	0	82	0.0387524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	.	0.0103834	0.0702	0	0	0	.	0.0718	0	0.0779	0.0042173	652	154602	rs138821110	0.0071	0.0070	0.0064	0.0079	0.0391	0.0070	0.0070	0.0345	0.0327	0.0020	0.0062	0.0385	0	0.0025	0.0391	0.0054	0.0103	0.0303	0.0061	0.0061	0.0058	0.0063	0.0203	0.0057	0.0056	0.0171	0.0158	0.0017	0	0.0085	0.0343	0.0002	0.0012	0.0274	0.0067	0.0147	0.0203	0.133	0.26409	T	0.161	0.31326	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.958337	0.26228	N	0.805	0.20218	L	0.4	0.57261	T	-0.48	0.15379	N	0.086	0.06322	-1.0278	0.21168	T	0.060	0.25127	T	9	0.0018773079	0.00025	T	.	.	.	0.037	0.09474	.	.	.	.	0.2112261720823509	0.21038	0.420411585227	0.42572	0.87365937233	0.93088	D	0.012857	0.11224	T	-0.502128	0.00556	T	-0.469674	0.25551	T	0.0463361906583269	0.04844	T	0.437256	0.12012	T	0.031170215	0.02909	0.12089603	0.29172	0.031170215	0.02908	0.12089603	0.29171	-5.419	0.41102	T	.	.	0.104	0.18746	B	.	.	2.367257	0.30367	18.42	0.99659934032971631	0.77883	0.16498	0.19417	N	ALL	0.072673	0.14512	N	-0.928686673885686	0.10175	0.4849995	-0.822539757875643	0.13949	0.7263908	0.999999999997495	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.239995	0.05000	1	0.372554	0.06265	0	.	.	3.76	2.84	0.32241	0.288000	0.18695	1.582000	0.27480	-1.078000	0.01575	0.570000	0.27505	0.002000	0.18203	0.743000	0.35541	0.0:0.8855:0.0:0.1145	8.444	0.31992	618	0.66225	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.040984	0.011628	0.026471	0.049689	0.222222	0.065217	0.050000	0.040650	0.07143	592.63	11	chr11	73308982	.	C	T	592.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.552;DP=137;ExcessHet=0;FS=3.412;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.96;ReadPosRankSum=2.51;SOR=0.244	GT:AD:DP:GQ:PL	0/0:20,0:20:48:0,48,720	6	0	1	0
chr11	73394701	73394701	G	C	exonic	RELT	.	nonsynonymous SNV	RELT:NM_032871:exon9:c.G1013C:p.R338P,RELT:NM_152222:exon9:c.G1013C:p.R338P	.	401	1120	1	0	0	1	0.000446229	.	.	.	3205215	RELT-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.507	0.120105476566	0.0028	0.000399361	0.0025	0.0004	0.0006	0	0.0031	0.0039	0.0034	0.0004	0.0024709	382	154602	rs147659360	0.0032	0.0032	0.0032	0.0032	0.0036	0.0031	0.0031	0.0035	0.0035	0.0004	0.0011	0.0052	2.519e-05	0.0037	0.0003	0.0036	0.0030	0.0006	0.0025	0.0025	0.0027	0.0022	0.0039	0.0023	0.0022	0.0035	0.0033	0.0006	0	0.0027	0.0061	0	0.0025	0	0.0039	0.0019	0.0002	0.002	0.72154	D	0.006	0.70582	D	0.997	0.70673	D	0.731	0.55321	P	0.000003	0.62929	D	0.058353	0.711759	0.33526	D	2.77	0.80896	M	-1.22	0.78752	T	-3.53	0.68532	D	0.604	0.62273	0.374	0.88712	D	0.521	0.82115	D	10	0.017392904	0.00371	T	0.120105	0.80056	D	0.507	0.78786	.	.	0.719263558215	0.71679	0.4743254348279872	0.47351	0.365847165232	0.38172	0.515975356102	0.41060	T	0.224059	0.58838	T	-0.145313	0.29048	T	0.0194442	0.71593	D	0.0304924705411548	0.02066	T	0.710329	0.32115	T	0.7131917	0.78783	0.7111176	0.82958	0.73020035	0.79736	0.6837796	0.81411	-1.88	0.02759	T	0.2361618945186724	0.31978	0.342	0.56105	A	.;.	.;.	4.493645	0.70214	25.5	0.99772693932545753	0.86088	0.79972	0.39738	D	AEFDGBCI	0.399393	0.47469	N	0.503635181275105	0.67305	5.06387	0.45586118048983	0.65094	4.780496	0.999999831350803	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	5.04	5.04	0.67293	0.795000	0.26632	11.708000	0.94607	0.676000	0.76740	0.003000	0.16062	1.000000	0.68203	0.974000	0.55675	0.0:0.1563:0.8437:0.0	13.653	0.61795	393	0.83123	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	362.49	40	chr11	73394701	.	G	C	362.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.35;DP=205;ExcessHet=0;FS=1.366;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=-0.112;SOR=1.096	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	6	0	1	0
chr11	74085833	74085833	T	C	exonic	C2CD3	.	nonsynonymous SNV	C2CD3:NM_001286577:exon21:c.A3695G:p.N1232S,C2CD3:NM_015531:exon21:c.A3695G:p.N1232S	.	425	1069	26	2	0	30	0.0138376	.	.	.	237381	C2CD3-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.260	.	0.0062	0.00359425	0.0074	0.0018	0.0025	0.0002	0.0018	0.0090	0.0078	0.0138	0.0071668	1108	154602	rs140307393	0.0081	0.0081	0.0078	0.0084	0.0136	0.0080	0.0079	0.0130	0.0127	0.0013	0.0036	0.0036	5.04e-05	0.0022	0.0133	0.0087	0.0078	0.0136	0.0056	0.0055	0.0057	0.0054	0.0112	0.0052	0.0051	0.0088	0.0082	0.0015	0	0.0054	0.0023	0.0002	0.0016	0.0034	0.0090	0.0038	0.0112	0.065	0.91255	T	0.0	0.92824	D	0.998	0.73220	D	0.994	0.82059	D	0.000000	0.84330	D	0.047690	0.998178	0.44592	D	2.275	0.64647	M	2.1	0.22474	T	-3.73	0.70920	D	0.618	0.67822	-1.0898	0.05565	T	0.087	0.33774	T	9	0.008733511	0.00198	T	.	.	.	0.260	0.57221	.	.	0.730538620245	0.72814	0.6667703258334168	0.66615	0.450404353452	0.44807	0.605244636536	0.53645	T	0.566117	0.85558	D	-0.443432	0.01235	T	-0.398059	0.33611	T	0.00854146172025429	0.00104	T	0.928907	0.75503	D	0.16323857	0.36452	0.28754643	0.54767	0.13781822	0.31896	0.2813219	0.54112	-6.251	0.48333	T	0.8860313117378174	0.94227	0.290	0.52144	B	.;.;.	.;.;.	4.933726	0.81364	27.5	0.99834264341119572	0.91542	0.96462	0.69259	D	AEFBHCI	0.847817	0.76465	D	0.709629925426277	0.80264	7.255832	0.723519105273188	0.84165	8.216543	1.0	0.98316	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	7.453000	0.79758	7.851000	0.70967	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.798	0.78201	381	0.83684	C2 domain|C2 domain|C2CD3, C2 domain;.;C2 domain|C2 domain|C2CD3, C2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.010101	0.005435	0.020468	0.000000	0.000000	0.006098	0.015152	0.1429	1722.04	77	chr11	74085833	.	T	C	1722.04	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.644;DP=297;ExcessHet=0.3476;FS=4.011;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.189;SOR=0.433	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1363	5	0	2	0
chr11	74204372	74204372	G	A	exonic	PPME1	.	nonsynonymous SNV	PPME1:NM_001271593:exon3:c.G215A:p.S72N,PPME1:NM_016147:exon3:c.G215A:p.S72N	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00138245968726	8.4e-05	0.000199681	0.0003	0.0001	0	0	0	3.146e-05	0.0023	0.0017	0.000207	32	154602	rs369439716	0.0001	0.0001	6.948e-05	0.0002	0.0017	0.0001	0.0001	0.0013	0.0012	2.988e-05	0	3.829e-05	0	0	0.0017	2.52e-05	0.0002	0.0015	0.0001	0.0001	8.993e-05	0.0002	0.0027	9.141e-05	7.698e-05	0.0016	0.0013	4.81e-05	0	0	0	0	0	0	8.819e-05	0	0.0027	0.261	0.16520	T	0.338	0.18125	T	0.103	0.25884	B	0.029	0.21540	B	0.228946	0.15964	N	0.677027	0.999999	0.58761	D	1.67	0.42885	L	.	.	.	-0.93	0.24898	N	0.649	0.66016	-0.7024	0.60323	T	0.008	0.02679	T	10	0.030573457	0.01185	T	0.001382	0.02011	T	0.112	0.31546	.	.	0.268702046668	0.26493	0.7938988974166172	0.79342	0.420246171216	0.42557	0.809952616692	0.83485	D	0.167582	0.51426	T	-0.2954	0.09100	T	-0.221726	0.52570	T	0.046417266819622	0.04859	T	0.875013	0.59164	D	0.2955647	0.52504	0.139747	0.33333	0.2955647	0.52504	0.139747	0.33332	-7.268	0.55967	T	.	.	0.298	0.52857	B	.;.	.;.	3.991644	0.58755	24.0	0.99347124342184123	0.60412	0.96047	0.67293	D	AEFBCI	0.891964	0.82843	D	0.218062929254962	0.52074	3.384047	0.413064462264707	0.62376	4.452192	0.999999999997148	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.93	5.93	0.95888	9.092000	0.93505	11.670000	0.94091	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.125	0.93365	694	0.58444	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.1429	1427.44	35	chr11	74204372	.	G	A	1427.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.02;DP=254;ExcessHet=0.3476;FS=2.424;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-0.894;SOR=0.996	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1020	5	0	2	0
chr11	74457538	74457538	G	A	exonic	KCNE3	.	nonsynonymous SNV	KCNE3:NM_005472:exon3:c.C26T:p.T9I	Brugada syndrome 6	0	1518	4	0	0	4	0.00131579	.	.	.	258710	Brugada_syndrome_6|Long_QT_syndrome|Cardiovascular_phenotype	MONDO:MONDO:0013145,MedGen:C2751089,OMIM:613119,Orphanet:130|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.124	0.0267559069532	0.0002	.	0.0002	9.653e-05	8.642e-05	0	0	0.0003	0	6.057e-05	0.0001617	25	154602	rs139040374	0.0001	0.0001	9.529e-05	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	5.974e-05	6.708e-05	0	0	0	0.0017	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0002	8.169e-05	6.725e-05	0.0001	0.0001	2.413e-05	0	0.0001	0	0	0	0	0.0002	0	0.0002	0.071	0.52492	T	0.179	0.29540	T	0.041	0.21357	B	0.015	0.17295	B	0.561158	0.11335	N	0.806061	1	0.08975	N	0.55	0.14455	N	-2.09	0.86077	D	-0.66	0.89534	N	0.259	0.32812	-0.7180	0.59561	T	0.339	0.70502	T	10	0.077046394	0.12111	T	0.026756	0.49639	D	0.124	0.34239	.	.	0.842738283887	0.84123	0.8148004908988197	0.81436	0.132197858342	0.14900	0.461262345314	0.33483	T	0.287223	0.66002	T	-0.223537	0.17512	T	-0.258548	0.48970	T	0.00429971718736215	0.00046	T	0.649735	0.35288	T	0.054364745	0.10421	0.069366604	0.14604	0.054364745	0.10421	0.069366604	0.14604	-4.537	0.31369	T	.	.	0.091	0.19919	B	.;.;.;.;.;.	.;.;.;.;.;.	1.684652	0.21469	15.21	0.97107884507457742	0.32396	0.12929	0.17563	N	AEFBI	0.196612	0.32358	N	-0.784892234640227	0.13703	0.6769653	-0.727642280185664	0.16274	0.8601162	0.999886713030585	0.44867	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.94	3.07	0.34476	1.714000	0.37580	3.891000	0.40294	0.676000	0.76740	0.099000	0.22773	0.997000	0.33255	0.844000	0.39860	0.1811:0.0:0.6452:0.1736	4.615	0.11808	460	0.78750	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1655.46	34	chr11	74457538	.	G	A	1655.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.43;DP=304;ExcessHet=0;FS=5.682;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-0.221;SOR=0.59	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1253	6	0	1	0
chr11	74835878	74835878	G	T	exonic	RNF169	.	nonsynonymous SNV	RNF169:NM_001098638:exon6:c.G1275T:p.E425D	.	435	1078	9	0	0	9	0.00415704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.320	.	.	0.00219649	0.0013	0	0.0002	0	0	7.496e-05	0.0011	0.0090	0.0011319	175	154602	rs369569812	0.0007	0.0007	0.0004	0.0009	0.0086	0.0006	0.0006	0.0081	0.0079	0	6.708e-05	0	2.519e-05	0	0.0023	0.0001	0.0008	0.0086	0.0004	0.0004	0.0002	0.0005	0.0091	0.0003	0.0003	0.0070	0.0062	4.813e-05	0	0.0001	0	0	0	0	0.0001	0	0.0091	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999978	0.53665	D	0.895	0.22405	L	0.43	0.56772	T	-1.14	0.29323	N	0.708	0.71143	-0.3870	0.72436	T	0.320	0.68960	T	10	0.009866834	0.00221	T	.	.	.	0.320	0.64215	0.448	0.50793	0.686092073669	0.68341	0.2554635684115935	0.25460	0.747522422216	0.63598	0.729810297489	0.71478	T	0.116785	0.43639	T	-0.318459	0.07025	T	-0.223682	0.52382	T	0.122595287670529	0.14681	T	0.90061	0.65471	D	0.4006415	0.60777	0.3159087	0.57575	0.4006415	0.60777	0.3159087	0.57574	-7.437	0.57165	T	.	.	0.841	0.79302	P	.	.	4.288453	0.65387	24.8	0.9985157809661398	0.93102	0.97739	0.76783	D	AEFGBI	0.555027	0.56563	D	0.52610219863704	0.68639	5.244875	0.491239616784563	0.67407	5.080047	0.997995646202725	0.36288	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.99	4.12	0.47504	4.184000	0.58121	3.508000	0.38821	-0.678000	0.04252	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.1523:0.0:0.8477:0.0	11.187	0.47887	639	0.64210	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.07143	64.44	34	chr11	74835878	.	G	T	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.282;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-1.645;SOR=0.223	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1301	6	0	1	0
chr11	74836435	74836435	G	C	exonic	RNF169	.	nonsynonymous SNV	RNF169:NM_001098638:exon6:c.G1832C:p.S611T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00854182418917	.	.	8.293e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs767012462	5.472e-06	5.472e-06	6.806e-06	4.125e-06	0.0002	2.35e-06	1.7e-06	2.62e-06	1.68e-06	0	0	0	0	0	0.0002	6.295e-06	0	0	1.314e-05	1.313e-05	0	2.689e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.102	0.30235	T	0.169	0.30534	T	0.18	0.29046	B	0.019	0.18783	B	0.077475	0.21102	N	0.494197	1	0.08975	N	0.345	0.11182	N	0.94	0.43672	T	-0.54	0.16598	N	0.078	0.05287	-1.0121	0.26259	T	0.059	0.24908	T	10	0.04348281	0.03202	T	0.008542	0.22581	T	0.026	0.05648	0.163	0.06730	0.329282125956	0.32538	0.07945280959812458	0.07880	0.19503665548	0.21841	0.284970939159	0.08194	T	0.012078	0.10676	T	-0.304876	0.08207	T	-0.67571	0.07248	T	0.0576254971180433	0.06789	T	0.518548	0.16835	T	0.03167719	0.03051	0.04474615	0.05865	0.03167719	0.03051	0.04474615	0.05865	-3.929	0.22738	T	.	.	0.082	0.08512	B	.	.	0.676493	0.10449	7.169	0.66639111177004662	0.08118	0.25920	0.22842	N	AEFBI	0.071797	0.14307	N	-0.93492379431941	0.10033	0.477578	-0.880552819659915	0.12555	0.6464965	0.187286422815352	0.17954	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.56	2.64	0.30504	1.028000	0.29734	1.319000	0.25590	-0.126000	0.13398	0.002000	0.15269	0.258000	0.23964	0.969000	0.54022	0.0768:0.0:0.6356:0.2876	7.843	0.28574	638	0.64280	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	2312.44	34	chr11	74836435	.	G	C	2312.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.64;DP=396;ExcessHet=0;FS=4.34;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.059;SOR=0.451	GT:AD:DP:GQ:PL	0/1:91,86:177:99:2323,0,2254	6	0	1	0
chr11	75428498	75428498	C	T	exonic	KLHL35	.	nonsynonymous SNV	KLHL35:NM_001039548:exon2:c.G1010A:p.G337D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0301947514617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	0.12148	T	0.272	0.22761	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999989	0.54805	D	.	.	.	-0.52	0.70717	T	-1.05	0.27463	N	0.263	0.35301	-0.6747	0.61616	T	0.285	0.65724	T	10	0.2189256	0.38547	T	0.030195	0.52558	D	0.189	0.46613	.	.	0.453119318887	0.44934	0.698202629369711	0.69761	0.0940562146519	0.10619	0.468813896179	0.34517	T	0.017787	0.14454	T	-0.0784177	0.39972	T	-0.350418	0.39156	T	0.847431480884552	0.49946	D	0.787321	0.42620	T	0.25565657	0.48600	0.23576036	0.48829	0.25565657	0.48600	0.23576036	0.48828	-6.392	0.49448	T	.	.	0.274	0.51669	B	.;.	.;.	3.312289	0.45517	22.1	0.99635289034928753	0.76326	0.71940	0.35232	D	ALL	0.240040	0.36190	N	0.0570175184555183	0.44466	2.720117	0.0208965778065995	0.40687	2.432161	0.999999999967781	0.74766	0.764865	0.99124	0	0.606814	0.50340	0	0.731555	0.93304	0	0.618803	0.45993	0	.	.	5.11	4.2	0.48814	1.401000	0.34198	4.642000	0.44159	0.599000	0.40250	0.562000	0.27441	1.000000	0.68203	0.868000	0.41282	0.0:0.9144:0.0:0.0856	11.793	0.51354	778	0.48011	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr11	75428498	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1184	6	1	0	0
chr11	75441194	75441194	A	C	exonic	GDPD5	.	nonsynonymous SNV	GDPD5:NM_001351167:exon10:c.T1028G:p.L343R,GDPD5:NM_030792:exon14:c.T1442G:p.L481R,GDPD5:NM_001351168:exon15:c.T707G:p.L236R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.672	0.178267824743	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000456	0.44317	D	0.153558	0.999998	0.81001	D	2.87	0.83286	M	0.59	0.53943	T	-5.93	0.89029	D	0.966	0.98368	-0.2479	0.76416	T	0.355	0.71812	T	10	0.9424009	0.93565	D	0.178268	0.85345	D	0.672	0.87868	0.662	0.79996	0.816523224248	0.81480	0.9470904324278336	0.94692	1.23720955238	0.81495	0.617373645306	0.55357	T	0.597006	0.87028	D	0.316007	0.84187	D	0.216146	0.83980	D	0.99882560968399	0.95280	D	0.875712	0.58780	D	0.89838594	0.91239	0.8101276	0.88908	0.89838594	0.91240	0.8101276	0.88908	-11.466	0.82425	D	.	.	0.891	0.82660	P	.;.;.;.;.;.	.;.;.;.;.;.	5.048550	0.84074	28.2	0.99793564621305764	0.87928	0.92634	0.56174	D	AEFBCI	0.905734	0.85763	D	0.809248131552852	0.86682	8.96415	0.74245719617881	0.85593	8.626946	0.999999999425349	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.84	4.84	0.62125	7.020000	0.76158	11.128000	0.86723	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	1.0:0.0:0.0:0.0	12.722	0.56517	723	0.55174	.;.;Glycerophosphodiester phosphodiesterase domain;Glycerophosphodiester phosphodiesterase domain;.;Glycerophosphodiester phosphodiesterase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	64.44	33	chr11	75441194	.	A	C	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-0.126;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1259:.	6	0	1	0
chr11	76496253	76496253	C	G	exonic	EMSY	.	nonsynonymous SNV	EMSY:NM_001300943:exon9:c.C1150G:p.L384V,EMSY:NM_020193:exon9:c.C1147G:p.L383V,EMSY:NM_001300942:exon10:c.C1192G:p.L398V,EMSY:NM_001300944:exon10:c.C1192G:p.L398V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.00453261117237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.56456	D	1.0	0.01155	T	0.997	0.70673	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	0.895	0.22405	L	.	.	.	-0.65	0.18877	N	0.564	0.71765	-0.7531	0.57773	T	0.280	0.65159	T	9	0.24627647	0.41889	T	0.004533	0.11157	T	0.251	0.56024	0.179	0.08626	0.161926535498	0.15789	0.24888415373398984	0.24802	1.06807590383	0.76700	.	.	.	0.047385	0.27706	T	0.160681	0.70264	D	-0.00696975	0.69883	D	0.726653091053459	0.42037	D	0.973803	0.91380	D	0.17019881	0.37581	0.21170264	0.45610	0.17019881	0.37581	0.21170264	0.45609	-8.834	0.66622	D	.	.	0.174	0.48807	B	.;.;.;.;.;.	.;.;.;.;.;.	4.457012	0.69330	25.4	0.99597549711436872	0.73983	0.98681	0.85513	D	AEFGBI	0.752831	0.69321	D	0.6031989030994	0.73378	5.956139	0.660773827867368	0.79417	7.077691	0.999999997739998	0.74766	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.82	5.82	0.92740	7.156000	0.77041	7.656000	0.63963	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.109	0.97902	867	0.32089	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	54.61	68	chr11	76496253	.	C	G	54.61	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.174;DP=658;ExcessHet=0;FS=311.022;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=0.325;SOR=9.383	GT:AD:DP:GQ:PL	0/1:94,43:149:64:64,0,1143	5	0	1	1
chr11	77102945	77102945	G	A	exonic	OMP	.	nonsynonymous SNV	OMP:NM_006189:exon1:c.G106A:p.G36R	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	0.0107	0.0091853	0.0029	0.0348	0.0010	0	0	9.262e-05	0.0012	0.0001	0.0028072	434	154602	rs2233548	0.0010	0.0010	0.0012	0.0009	0.0365	0.0010	0.0009	0.0348	0.0341	0.0365	0.0013	0	0	0	0.0010	7.105e-05	0.0017	4.637e-05	0.0094	0.0094	0.0097	0.0091	0.0330	0.0090	0.0088	0.0316	0.0310	0.0330	0	0.0024	0	0	0	0	2.94e-05	0.0080	0.0004	0.006	0.61437	D	0.02	0.58613	D	0.642	0.40458	P	0.161	0.34794	B	.	.	.	.	1	0.81001	D	1.495	0.37439	L	1.17	0.37910	T	-4.43	0.77554	D	0.316	0.35620	-1.0970	0.04474	T	0.018	0.07659	T	9	0.004181236	0.00083	T	.	.	.	0.084	0.24469	0.189	0.09907	0.0551355673512	0.04727	0.14134222086519388	0.14057	0.508907322124	0.49035	0.398636013269	0.24879	T	0.237135	0.60475	T	-0.470607	0.00843	T	-0.423009	0.30732	T	0.0521805359844833	0.05879	T	0.779322	0.41328	T	0.31656313	0.54348	0.4309124	0.66726	0.31656313	0.54348	0.4309124	0.66726	-2.058	0.03408	T	.	.	0.204	0.42976	B	.	.	3.651815	0.51831	23.2	0.99916601443515773	0.98449	0.58885	0.30763	D	AEFDGBI	0.094862	0.19173	N	0.083943397921915	0.45715	2.823383	0.186814847202179	0.49125	3.11945	0.985133884994672	0.30834	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.12	4.13	0.47661	1.490000	0.35181	5.613000	0.49061	0.676000	0.76740	0.273000	0.25075	1.000000	0.68203	0.769000	0.36481	0.252:0.0:0.748:0.0	4.785	0.12591	526	0.73951	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.001362	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1072.63	35	chr11	77102945	.	G	A	1072.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.58;DP=248;ExcessHet=0;FS=6.048;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=0.639;SOR=1.382	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1098	6	0	1	0
chr11	77211191	77211191	C	T	exonic	MYO7A	.	nonsynonymous SNV	MYO7A:NM_000260:exon45:c.C6091T:p.R2031W,MYO7A:NM_001127180:exon45:c.C5977T:p.R1993W,MYO7A:NM_001369365:exon46:c.C5944T:p.R1982W	Deafness, autosomal dominant 11, Autosomal dominant;Deafness, autosomal recessive 2, Autosomal recessive;Usher syndrome, type 1B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1030559	not_provided|Usher_syndrome_type_1B	MedGen:C3661900|MONDO:MONDO:0700087,MedGen:C2931206	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.614	0.197045080083	0.0002	.	0.0002	0.0008	0.0005	0	0	0.0001	0	0	3.88e-05	6	154602	rs369460086	7.15e-05	7.319e-05	6.746e-05	7.56e-05	0.0003	6e-05	5.604e-05	0.0002	0.0001	0.0003	2.389e-05	0	0	0	0	7.35e-05	0.0001	4.871e-05	6.569e-05	6.562e-05	7.71e-05	5.375e-05	0.0002	3.515e-05	2.615e-05	6.272e-05	4.293e-05	0.0001	0	0	0	0	0	0	4.412e-05	0	0.0002	0.005	0.78490	D	0.016	0.76473	D	0.999	0.77913	D	0.968	0.71741	D	0.000002	0.62929	D	0.056853	0.999988	0.54805	D	2.585	0.75554	M	-1.17	0.78199	T	-6.28	0.90688	D	0.803	0.82458	0.167	0.85342	D	0.562	0.84087	D	10	0.532118	0.63242	D	0.197045	0.86515	D	0.614	0.84932	.	.	0.894152575574	0.89310	0.672587858029338	0.67196	0.419543863696	0.42505	0.806033372879	0.82883	D	0.857044	0.96796	D	0.255263	0.79090	D	0.128891	0.78818	D	0.635365068912506	0.37842	D	0.981202	0.93547	D	0.81191856	0.84680	0.61340356	0.77503	0.81191856	0.84682	0.61340356	0.77504	-11.063	0.80002	D	0.2933571408957497	0.39013	0.200	0.42419	B	.;.;.;.	.;.;.;.	4.847916	0.79215	27.1	0.99919194904581154	0.98654	0.30301	0.24047	N	AEFI	0.652921	0.62614	D	0.265148182110584	0.54392	3.604895	0.153687213643592	0.47338	2.965507	0.368414973381623	0.19846	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	4.63	3.71	0.41733	0.526000	0.22680	1.818000	0.29017	0.599000	0.40250	0.096000	0.22710	0.929000	0.28499	0.998000	0.85391	0.3073:0.6926:0.0:0.0	12.243	0.53872	679	0.60090	FERM central domain|FERM domain|Band 4.1 domain|FERM central domain;.;.;FERM central domain|FERM domain|Band 4.1 domain|FERM central domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1271.44	36	chr11	77211191	.	C	T	1271.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.34;DP=303;ExcessHet=0;FS=2.378;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=1.11;SOR=0.941	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr11	77702384	77702384	T	C	exonic	RSF1	.	nonsynonymous SNV	RSF1:NM_016578:exon6:c.A845G:p.D282G	.	441	1056	21	4	0	29	0.0135451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	.	0.0012	0.00299521	0.0020	9.968e-05	0.0010	0	0.0002	0.0014	0.0022	0.0079	0.0017788	275	154602	rs149599829	0.0013	0.0013	0.0010	0.0016	0.0254	0.0013	0.0012	0.0220	0.0207	0.0007	0.0005	0.0023	7.565e-05	0.0003	0.0254	0.0008	0.0023	0.0078	0.0012	0.0012	0.0011	0.0013	0.0093	0.0010	0.0010	0.0072	0.0064	0.0002	0	0.0012	0.0023	0	0.0004	0.0340	0.0011	0.0038	0.0093	0.074	0.34621	T	0.145	0.33000	T	0.001	0.07471	B	0.001	0.04355	B	0.046415	0.23442	N	0.370958	0.956621	0.46578	D	1.445	0.36358	L	-2.04	0.86415	D	-2.62	0.63090	D	0.156	0.17140	-0.4306	0.71047	T	0.423	0.76783	T	10	0.0058239996	0.00130	T	.	.	.	0.126	0.34673	.	.	0.388737156453	0.38486	0.06564192176107955	0.06503	0.0250102987337	0.02547	0.317823112011	0.13091	T	0.021387	0.33439	T	-0.34498	0.05051	T	-0.26333	0.48490	T	0.0134633381867005	0.00245	T	0.765923	0.39354	T	0.12443495	0.29197	0.14633854	0.34674	0.12443495	0.29197	0.14633854	0.34673	-4.973	0.36633	T	.	.	0.087	0.18497	B	.;.;.;.	.;.;.;.	2.676665	0.34910	19.76	0.98318563966930406	0.40212	0.91193	0.53043	D	AEFBI	0.412134	0.48233	N	-0.267957841629931	0.30392	1.694271	-0.0931855098408182	0.35671	2.066501	0.0647651325479164	0.15339	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.81	3.43	0.38372	1.231000	0.32226	4.158000	0.42192	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0687:0.1293:0.802	8.596	0.32876	533	0.73433	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018630	0.010101	0.016304	0.046784	0.000000	0.025862	0.003049	0.022727	0.1429	1772.26	36	chr11	77702384	.	T	C	1772.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.5;DP=310;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=0.913;SOR=0.739	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	2	0
chr11	78200699	78200699	C	T	exonic	USP35	.	nonsynonymous SNV	USP35:NM_020798:exon6:c.C1088T:p.S363L	.	436	1053	32	1	0	34	0.0158879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	.	0.0042	0.00379393	0.0056	0.0013	0.0011	0	0.0032	0.0059	0.0067	0.0144	0.0054074	836	154602	rs147270370	0.0054	0.0055	0.0051	0.0058	0.0155	0.0053	0.0053	0.0148	0.0145	0.0009	0.0026	0.0087	7.557e-05	0.0031	0.0071	0.0051	0.0066	0.0155	0.0044	0.0044	0.0047	0.0041	0.0124	0.0042	0.0041	0.0099	0.0090	0.0009	0.0263	0.0034	0.0092	0	0.0023	0.0170	0.0064	0.0052	0.0124	0.292	0.28395	T	0.14	0.33554	T	0.422	0.35435	B	0.041	0.23986	B	0.000071	0.52346	D	0.000000	0.992527	0.81001	D	0.205	0.09354	N	-0.24	0.68030	T	-1.35	0.37375	N	0.767	0.76481	-0.9361	0.43226	T	0.112	0.40052	T	10	0.0058319867	0.00130	T	.	.	.	0.118	0.32913	.	.	0.435808882951	0.43200	0.5387993112169235	0.53804	0.0731156517845	0.08196	0.591109752655	0.51651	T	0.021335	0.16634	T	-0.198357	0.21042	T	-0.0453791	0.67336	D	0.0174324986417092	0.00480	T	0.90111	0.65969	D	0.25085986	0.48090	0.14574388	0.34554	0.25085986	0.48090	0.14574388	0.34553	-6.214	0.48036	T	.	.	0.214	0.59016	B	.;.;.	.;.;.	3.423610	0.47552	22.5	0.98669950564986297	0.44456	0.97537	0.75396	D	AEFDGBI	0.403434	0.47712	N	-0.00792238119281392	0.41496	2.483102	0.159738799392151	0.47660	2.99292	0.999999721442655	0.74766	0.646311	0.45356	0	0.593476	0.48661	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.73	4.73	0.59485	3.791000	0.55173	7.353000	0.58305	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.913	0.88860	615	0.66512	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.005051	0.004076	0.002924	0.000000	0.008621	0.012195	0.011364	0.07143	370.53	30	chr11	78200699	.	C	T	370.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.789;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=1.4;SOR=0.929	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1084	6	0	1	0
chr11	78672218	78672218	G	A	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon31:c.C5608T:p.R1870W	Tremor, hereditary essential, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.599	0.192920723176	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450015058	6.841e-06	6.841e-06	8.168e-06	5.501e-06	4.472e-05	3.46e-06	2.52e-06	7.41e-06	2.77e-06	0	4.472e-05	0	2.519e-05	0	0	3.598e-06	4.969e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.83351	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.999843	0.49770	D	2.005	0.54552	M	-2.89	0.91589	D	-5.9	0.88839	D	0.918	0.92084	0.739	0.93656	D	0.829	0.94256	D	9	0.8235949	0.81549	D	0.192921	0.86273	D	0.599	0.84128	0.523	0.62668	0.802885583111	0.80104	0.6558839650432756	0.65524	0.888729963639	0.70121	0.790791511536	0.80564	T	0.718993	0.92043	D	0.319887	0.84466	D	0.304584	0.88407	D	0.994478106498718	0.85785	D	0.989945	0.96848	D	0.67360944	0.76626	0.6441225	0.79198	0.67360944	0.76628	0.6441225	0.79198	-9.207	0.69019	D	0.5107279776403439	0.58452	0.399	0.59499	A	.;.	.;.	5.169166	0.86639	29.0	0.99923344304079487	0.98917	0.89032	0.49260	D	AEFDBI	0.783966	0.71479	D	0.484966535668828	0.66212	4.920996	0.444874810149228	0.64388	4.692901	0.00436210589121749	0.10516	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.55	3.48	0.38946	1.604000	0.36415	4.035000	0.41373	0.672000	0.70159	0.973000	0.34540	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.5176:0.4824	13.354	0.60057	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1343.44	34	chr11	78672218	.	G	A	1343.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.263;DP=292;ExcessHet=0;FS=1.539;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-0.729;SOR=0.543	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1437	6	0	1	0
chr11	82933517	82933518	TT	-	exonic	DDIAS	.	frameshift deletion	DDIAS:NM_001363481:exon5:c.2179_2180del:p.F727Hfs*14,DDIAS:NM_145018:exon6:c.2179_2180del:p.F727Hfs*14	.	423	1090	8	1	0	10	0.00456621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1330116960	1.71e-05	1.71e-05	1.497e-05	1.925e-05	0.0012	1.174e-05	9.92e-06	0.0006	0.0004	0	2.236e-05	3.827e-05	0	0	0.0012	1.259e-05	3.312e-05	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	268.4	33	chr11	82933516	.	CTT	C	268.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.21;DP=272;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=22.37;ReadPosRankSum=0.078;SOR=0.631	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1188	6	0	1	0
chr11	85886325	85886325	A	G	exonic	CCDC83	.	nonsynonymous SNV	CCDC83:NM_001286159:exon5:c.A469G:p.N157D,CCDC83:NM_173556:exon5:c.A469G:p.N157D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0130361108443	.	.	8.591e-06	0	8.752e-05	0	0	0	0	0	6.5e-06	1	154602	rs745662225	2.059e-06	2.052e-06	4.096e-06	0	6.897e-05	5.5e-07	1.5e-07	1.829e-05	9.07e-06	0	6.897e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.25979	T	0.187	0.29945	T	0.687	0.41560	P	0.189	0.36295	B	0.007743	0.31217	N	0.314716	1	0.81001	D	2.52	0.73523	M	0.91	0.45248	T	-2.35	0.51968	N	0.305	0.34444	-1.0741	0.08535	T	0.075	0.30303	T	9	0.13016504	0.24771	T	0.013036	0.32127	T	0.097	0.27909	0.255	0.19533	0.117506650769	0.11410	0.22887508853742333	0.22802	0.0458610742693	0.04982	0.633895456791	0.57698	T	0.003452	0.02859	T	-0.37622	0.03291	T	-0.598507	0.12937	T	0.552418529987335	0.34568	D	0.610439	0.23144	T	0.12241394	0.28766	0.16248485	0.37741	0.12241394	0.28766	0.16248485	0.37740	-4.026	0.25157	T	.	.	0.155	0.34383	B	.;.	.;.	2.585125	0.33527	19.37	0.99485367284534976	0.67124	0.60389	0.31182	D	AEDGBIJ	0.172147	0.29916	N	0.0422059657948302	0.43786	2.664661	0.13631171303565	0.46420	2.888345	0.940638529580317	0.27440	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.09	3.95	0.44952	1.509000	0.35387	5.298000	0.48228	0.756000	0.94297	1.000000	0.71638	0.996000	0.32793	1.000000	0.97212	0.7379:0.1709:0.0913:0.0	5.623	0.16750	713	0.56348	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	395.46	28	chr11	85886325	.	A	G	395.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.38;DP=199;ExcessHet=0;FS=3.227;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=-0.876;SOR=0.537	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1078	6	0	1	0
chr11	86400764	86400764	C	T	exonic	CCDC81	.	stopgain	CCDC81:NM_021827:exon6:c.C574T:p.R192X,CCDC81:NM_001156474:exon7:c.C844T:p.R282X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.648e-05	0	0	0	0	1.499e-05	0	6.057e-05	1.29e-05	2	154602	rs765926203	1.233e-05	1.231e-05	1.09e-05	1.377e-05	0.0002	7.7e-06	6.36e-06	1.585e-05	9.31e-06	5.977e-05	0	0	0	0	0.0002	8.101e-06	3.315e-05	4.646e-05	1.974e-05	1.971e-05	2.572e-05	1.347e-05	2.941e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	2.416e-05	0	0	0	0	0	0	2.941e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.684534	0.06110	N	1.183800	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.176	0.18920	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.20675	0.74524	D	0.240734	0.85180	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.	.;High;.	5.132698	0.85898	28.7	0.99320978378193847	0.59393	0.04899	0.10646	N	AEFI	0.044697	0.07222	N	-0.0398026426260664	0.40058	2.372589	-0.429737591636729	0.24130	1.319608	0.0137007923602226	0.12498	0.615465	0.37627	0	0.573888	0.26702	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.9	-0.725	0.10610	-0.052000	0.11821	-0.500000	0.08808	-0.954000	0.02017	0.007000	0.17678	0.000000	0.08366	0.000000	0.00833	0.4385:0.3082:0.0:0.2533	3.530	0.07329	853	0.34956	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1534.53	33	chr11	86400764	.	C	T	1534.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.72;DP=327;ExcessHet=0;FS=1.43;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-0.048;SOR=0.849	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	6	0	1	0
chr11	88149739	88149739	C	T	exonic	RAB38	.	nonsynonymous SNV	RAB38:NM_022337:exon2:c.G419A:p.G140D	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.0178965398464	.	0.000599042	0.0003	0	0	0	0	1.499e-05	0	0.0021	0.0002458	38	154602	rs529999144	0.0001	0.0001	7.759e-05	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	0	0	0	0	0	0.0003	3.597e-06	4.967e-05	0.0021	9.85e-05	9.843e-05	7.711e-05	0.0001	0.0031	6.003e-05	4.877e-05	0.0019	0.0015	0	0	0	0	0	0	0	0	0	0.0031	0.562	0.06341	T	0.577	0.08594	T	0.002	0.09854	B	0.014	0.16862	B	0.000138	0.49741	D	0.211384	0.999727	0.48557	D	0.28	0.10031	N	-0.97	0.75670	T	0.14	0.05405	N	0.744	0.74371	-1.0026	0.29168	T	0.093	0.35390	T	9	0.04597503	0.03732	T	0.017897	0.39776	T	0.226	0.52472	0.572	0.69564	0.868550372422	0.86726	0.748654397795004	0.74811	0.217516937017	0.24271	0.824813485146	0.85767	D	0.21779	0.58033	T	-0.290786	0.09557	T	-0.196946	0.54934	T	0.0384196424075703	0.03407	T	0.887811	0.61653	D	0.27788338	0.50845	0.2469598	0.50216	0.27788338	0.50844	0.2469598	0.50214	-7.703	0.59029	D	.	.	0.172	0.37802	B	.	.	3.535433	0.49623	22.8	0.93343849730080919	0.23075	0.92537	0.55944	D	AEFBI	0.534783	0.55368	D	0.161879195689553	0.49377	3.138686	0.316527916242715	0.56511	3.814483	0.0812715877643726	0.15869	0.693126	0.56070	0	0.708844	0.79440	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.47	5.47	0.80345	3.660000	0.54234	7.544000	0.60141	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1493:0.8507:0.0:0.0	14.203	0.65258	893	0.26510	Small GTP-binding protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	807.45	84	chr11	88149739	.	C	T	807.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.329;DP=274;ExcessHet=0;FS=0.831;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=-0.647;SOR=0.803	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1056	6	0	1	0
chr11	89191378	89191378	G	A	exonic	TYR	.	nonsynonymous SNV	TYR:NM_000372:exon2:c.G996A:p.M332I	Albinism, oculocutaneous, type IA, Autosomal recessive;Albinism, oculocutaneous, type IB;Waardenburg syndrome/albinism, digenic, Autosomal dominant	1	1517	2	2	0	6	0.00197368	.	.	YES	1170272	not_provided|Abnormality_of_the_skin|Oculocutaneous_albinism_type_1A|SKIN/HAIR/EYE_PIGMENTATION_3,_LIGHT/DARK_SKIN	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000951,Human_Phenotype_Ontology:HP:0001478,Human_Phenotype_Ontology:HP:0001479,Human_Phenotype_Ontology:HP:0005591,Human_Phenotype_Ontology:HP:0006736,Human_Phenotype_Ontology:HP:0007415,Human_Phenotype_Ontology:HP:0007580,MedGen:C5848159|MONDO:MONDO:0008745,MedGen:C4551504,OMIM:203100,Orphanet:352731,Orphanet:79431|MedGen:C2677190,OMIM:601800	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.816	0.452783023193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.077	0.42436	T	0.985	0.61118	D	0.977	0.73820	D	0.000000	0.84330	N	0.034352	1	0.81001	D	2.5	0.72771	M	-4.47	0.97583	D	-0.86	0.23372	N	0.924	0.92784	1.077	0.98798	D	0.948	0.98287	D	9	0.89743793	0.89100	D	0.452783	0.94373	D	0.816	0.94085	0.564	0.68499	0.999915359409	0.99991	0.8442407316737897	0.84385	0.0739840921623	0.08289	0.513606905937	0.40727	T	0.703991	0.91501	D	0.49892	0.94263	D	0.478887	0.94184	D	0.967107117176056	0.67799	D	0.933907	0.75239	D	0.80760825	0.84396	0.71026814	0.82910	0.80760825	0.84398	0.71026814	0.82911	-2.292	0.04511	T	0.5667168270684695	0.63413	0.458	0.62616	A	.	.	4.710871	0.75672	26.4	0.99709727968769313	0.81213	0.98032	0.79028	D	AEFI	0.938470	0.93771	D	0.731490665441918	0.81697	7.583261	0.683030735018421	0.81092	7.446299	0.556091860729777	0.21375	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	4.67	0.58089	7.465000	0.79922	11.679000	0.94198	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.863:0.137	15.818	0.78393	875	0.30485	Tyrosinase copper-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	486.45	59	chr11	89191378	.	G	A	486.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.301;DP=242;ExcessHet=0;FS=2.383;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.24;ReadPosRankSum=-1.057;SOR=0.392	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1251	6	0	1	0
chr11	89801771	89801771	C	T	exonic	TRIM49	.	nonsynonymous SNV	TRIM49:NM_020358:exon5:c.G669A:p.M223I	.	932	588	1	1	0	3	0.00254453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00092450730519	.	.	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs1293181294	0.0059	0.0047	0.0054	0.0063	0.0123	0.0057	0.0057	0.0115	0.0112	0.0007	0.0012	0.0076	3.252e-05	0.0040	0.0063	0.0062	0.0049	0.0123	0.0047	0.0040	0.0047	0.0047	0.0094	0.0043	0.0042	0.0063	0.0060	0.0013	0	0.0020	0.0108	0	0.0054	0.0043	0.0070	0.0037	0.0094	0.174	0.22486	T	0.144	0.33109	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.78	0.03836	T	-1.37	0.33998	N	0.073	0.04668	-0.9105	0.46793	T	0.007	0.02439	T	8	0.006237954	0.00141	T	9.25E-4	0.00889	T	0.019	0.03383	0.522	0.62518	0.043077524339	0.03247	0.03044526464113662	0.02993	2.0043789819	0.93871	0.581990838051	0.50366	T	0.009759	0.08861	T	-0.403208	0.02206	T	-0.816957	0.01515	T	0.00147990334572773	0.00015	T	0.164884	0.01516	T	0.06968662	0.15290	0.07089837	0.15120	0.06968662	0.15289	0.07089837	0.15120	-3.569	0.17410	T	.	.	0.325	0.54890	B	.	.	-0.010184	0.04214	1.030	0.56072420918090116	0.05474	0.00301	0.01603	N	AEFI	0.028021	0.02391	N	-1.34955498525589	0.03130	0.139301	-1.46367434187579	0.02649	0.1221927	2.14990174235377E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.04	-1.99	0.07047	-1.951000	0.01620	-20.000000	0.00162	-0.633000	0.04490	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4342:0.3158:0.2501	2.504	0.04358	834	0.38640	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	132.66	3	chr11	89801771	.	C	T	132.66	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.293;DP=52;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=26.64;MQRankSum=1.52;QD=8.29;ReadPosRankSum=0.38;SOR=0.34	GT:AD:DP:GQ:PL	0/0:10,0:10:30:0,30,427	5	0	1	1
chr11	90041513	90041513	C	G	exonic	TRIM49C	.	nonsynonymous SNV	TRIM49C:NM_001195234:exon8:c.C1322G:p.P441R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.00374006517992	.	.	.	.	.	.	.	.	.	.	.	.	.	rs776259545	2.203e-06	2.07e-06	2.913e-06	1.481e-06	2.891e-06	5.9e-07	1.6e-07	7.7e-07	2.1e-07	0	0	0	0	0	0	2.891e-06	0	0	1.078e-05	1.372e-05	0	2.291e-05	3.938e-05	0	0	.	.	3.938e-05	0	0	0	0	0	0	0	0	0	0.19	0.21144	T	0.36	0.16964	T	0.953	0.54283	P	0.905	0.64260	P	.	.	.	.	1	0.08975	N	1.915	0.51223	L	0.19	0.60236	T	-1.55	0.37566	N	0.15	0.15328	-0.9252	0.44829	T	0.192	0.54521	T	8	0.16687307	0.31149	T	0.00374	0.08682	T	0.185	0.45933	0.546	0.66015	0.185906805712	0.18197	0.0315758390285053	0.03106	1.96159394134	0.93462	0.50140440464	0.39024	T	0.025217	0.18900	T	-0.218358	0.18216	T	-0.551432	0.17188	T	0.186998590826988	0.19666	T	0.647135	0.25820	T	0.031133443	0.02898	0.051765874	0.08396	0.031133443	0.02897	0.051765874	0.08396	-5.95	0.45859	T	.	.	0.165	0.36436	B	.	.	0.566430	0.09351	6.130	0.93267411156921765	0.22964	0.00091	0.00603	N	AEFI	0.023590	0.01336	N	-0.79322920068111	0.13485	0.6646742	-1.10317810758511	0.07639	0.3723837	2.32264250919365E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.869	-1.74	0.07622	-0.911000	0.04159	-20.000000	0.00162	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.4046:0.3243:0.2711	2.386	0.04100	900	0.24599	SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	502.53	21	chr11	90041513	.	C	G	502.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.753;DP=176;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=35.58;MQRankSum=-3.514;QD=13.96;ReadPosRankSum=-0.617;SOR=0.693	GT:AD:DP:GQ:PL	0/1:18,18:36:99:513,0,617	6	0	1	0
chr11	90086557	90086557	G	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.G608C:p.R203T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.108e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.46632	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	.	.	.	1.845	0.48678	L	.	.	.	.	.	.	0.107	0.09207	.	.	.	.	.	.	.	0.06643045	0.09110	T	.	.	.	.	.	.	.	0.0551355673512	0.04727	0.21323195079400067	0.21239	.	.	0.453380286694	0.32406	T	0.09006	0.38505	T	-0.213133	0.18940	T	-0.543927	0.17914	T	.	.	.	0.268673	0.04486	T	0.058495175	0.11776	0.07780641	0.17369	0.058495175	0.11776	0.07780641	0.17368	-2.736	0.07610	T	.	.	0.089	0.12132	B	.	.	0.095003	0.04978	1.540	0.40076986978530127	0.02806	0.04361	0.09932	N	AEFI	.	.	.	.	.	.	.	.	.	3.05911429590198E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.06	-2.13	0.06745	0.266000	0.18300	0.115000	0.14837	-3.554000	0.00076	0.039000	0.20931	0.000000	0.08366	0.017000	0.10941	0.2442:0.249:0.5067:0.0	3.692	0.07881	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	46.27	17	chr11	90086557	.	G	C	46.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.244;DP=122;ExcessHet=0;FS=15.529;MLEAC=1;MLEAF=0.083;MQ=35.02;MQRankSum=-1.67;QD=1.65;ReadPosRankSum=1.67;SOR=3.909	GT:AD:DP:GQ:PL	0/0:19,0:19:57:0,57,665	5	0	1	1
chr11	90086558	90086558	G	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.G609C:p.R203S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0016	0.0005	0.0005	0.0006	0.0005	0.0004	0.0006	0.0005	0.0003	0	0.0002	0	0	0.0006	0.0006	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.31427	T	0.02	0.18235	B	0.024	0.20255	B	.	.	.	.	.	.	.	1.845	0.48678	L	.	.	.	.	.	.	0.177	0.19055	.	.	.	.	.	.	.	0.07897973	0.12652	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.20041654349623925	0.19958	.	.	0.434744000435	0.29857	T	0.02618	0.19424	T	-0.0652308	0.42086	T	-0.331476	0.41304	T	.	.	.	0.258474	0.04102	T	0.19470586	0.41231	0.14969048	0.35334	0.19470586	0.41231	0.14969048	0.35333	-1.725	0.02295	T	.	.	0.158	0.34949	B	.	.	0.764181	0.11341	7.959	0.48982207246768944	0.04133	0.11168	0.16454	N	AEFI	.	.	.	.	.	.	.	.	.	1.24664943251294E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.06	1.06	0.19341	1.319000	0.33260	-1.431000	0.05455	0.311000	0.19140	0.058000	0.21700	0.000000	0.08366	0.034000	0.13613	0.0:0.0:0.6123:0.3877	4.372	0.10686	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	70.56	17	chr11	90086558	.	G	C	70.56	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.599;DP=118;ExcessHet=0;FS=15.529;MLEAC=1;MLEAF=0.1;MQ=35.02;MQRankSum=-1.67;QD=2.43;ReadPosRankSum=1.54;SOR=3.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:17,0:17:51:.:.:0,51,608:.	4	0	1	2
chr11	90086559	90086559	T	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.T610C:p.S204P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0034	0.0014	0.0010	0.0015	0.0011	0.0011	0.0014	0.0014	0.0007	6.138e-05	0.0003	0.0002	0	0.0015	0.0015	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.30729	T	0.114	0.26387	B	0.055	0.25995	B	.	.	.	.	.	.	.	1.81	0.47622	L	.	.	.	.	.	.	0.184	0.19995	.	.	.	.	.	.	.	0.09870526	0.17865	T	.	.	.	.	.	.	.	0.0762999501168	0.06990	0.206982614041448	0.20614	.	.	0.471310138702	0.34860	T	0.051993	0.29036	T	-0.036046	0.46533	T	-0.289554	0.45819	T	.	.	.	0.212979	0.02609	T	0.15890183	0.35723	0.25574014	0.51261	0.15890183	0.35723	0.25574014	0.51260	-4.303	0.28219	T	.	.	0.081	0.08272	B	.	.	1.230443	0.16252	12.42	0.61155269003408275	0.06639	0.12260	0.17159	N	AEFI	.	.	.	.	.	.	.	.	.	2.32955600745505E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.06	1.06	0.19341	0.059000	0.14199	-0.821000	0.07295	0.305000	0.19019	0.018000	0.19461	0.000000	0.08366	0.048000	0.15020	0.0:0.0:0.0:1.0	6.324	0.20441	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	30.33	17	chr11	90086559	.	T	C	30.33	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.015;DP=124;ExcessHet=0;FS=8.913;MLEAC=1;MLEAF=0.1;MQ=35.02;MQRankSum=-1.526;QD=0.98;ReadPosRankSum=1.17;SOR=3.334	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:19,0:19:57:.:.:0,57,655:.	4	0	1	2
chr11	92799663	92799663	G	A	exonic	FAT3	.	nonsynonymous SNV	FAT3:NM_001008781:exon10:c.G6650A:p.G2217D,FAT3:NM_001367949:exon10:c.G6650A:p.G2217D	.	427	1090	5	0	0	5	0.00228833	.	.	.	2347783	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.139	0.0136336350508	0.0002	.	0.0002	0	0.0003	0	0	0.0002	0.0023	0.0002	0.0001423	22	154602	rs369227298	0.0002	0.0002	0.0002	0.0001	0.0029	0.0001	0.0001	0.0019	0.0015	2.987e-05	0.0005	0	0	0	0.0029	0.0001	0.0003	0.0002	0.0001	0.0001	0.0001	0.0001	0.0004	9.148e-05	7.703e-05	0.0002	0.0001	2.408e-05	0	0.0004	0	0	0	0.0068	0.0001	0.0005	0.0002	0.072	0.34982	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996725	0.43377	D	-0.35	0.03145	N	0.68	0.51952	T	-0.03	0.07444	N	0.548	0.57433	-1.0397	0.17404	T	0.102	0.37819	T	9	0.19570878	0.35433	T	0.013634	0.33179	T	0.139	0.37390	.	.	0.33174030287	0.32783	0.5780900417986701	0.57738	.	.	0.684632718563	0.64934	T	0.021429	0.16689	T	-0.295472	0.09093	T	-0.321653	0.42393	T	0.0566989813713922	0.06639	T	.	.	.	0.15896496	0.35735	0.35959753	0.61416	0.15896496	0.35735	0.35959753	0.61416	-6.375	0.49314	T	.	.	0.166	0.36515	B	.;.	.;.	2.936138	0.39022	20.9	0.9952703009885896	0.69591	0.95648	0.65567	D	AEFBI	0.723370	0.67301	D	0.348623391118504	0.58665	4.040363	0.494692732276749	0.67638	5.110874	0.990536827468296	0.32185	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	6.16	6.16	0.99302	4.397000	0.59451	5.969000	0.51963	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.860	0.99763	906	0.23090	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.008772	0.000000	0.008621	0.000000	0.000000	0.07143	2482.44	51	chr11	92799663	.	G	A	2482.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.053;DP=670;ExcessHet=0;FS=8.103;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=1.09;SOR=0.461	GT:AD:DP:GQ:PL	0/0:142,0:142:99:0,120,1800	6	0	1	0
chr11	92844183	92844183	A	G	exonic	FAT3	.	nonsynonymous SNV	FAT3:NM_001008781:exon19:c.A10816G:p.I3606V,FAT3:NM_001367949:exon19:c.A10816G:p.I3606V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00782656886405	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	0.12305	T	.	.	.	0.001	0.07471	B	0.005	0.11217	B	.	.	.	.	0.958183	0.38062	D	1.08	0.27187	L	3.08	0.08460	T	-0.12	0.08809	N	0.345	0.39457	-0.9926	0.31933	T	0.016	0.06616	T	9	0.18861127	0.34424	T	0.007827	0.20773	T	0.034	0.08419	0.385	0.40460	0.206203607746	0.20212	0.2489319392235775	0.24807	.	.	0.610027909279	0.54320	T	0.033795	0.23059	T	-0.219981	0.17996	T	-0.553764	0.16966	T	0.33818730711937	0.26552	T	.	.	.	0.034002017	0.03731	0.050469548	0.07929	0.034002017	0.03731	0.050469548	0.07928	-5.597	0.42765	T	.	.	0.124	0.25978	B	.;.	.;.	2.033190	0.25845	16.91	0.97450214728823181	0.34028	0.67646	0.33508	D	AEFBCI	0.591183	0.58738	D	-0.251714278590061	0.31036	1.736278	-0.069006664694718	0.36678	2.13768	0.99997750904849	0.50053	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.82	3.55	0.39770	4.487000	0.60022	6.284000	0.55386	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.846000	0.39970	0.8583:0.0:0.1417:0.0	9.388	0.37517	840	0.37365	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2223.44	36	chr11	92844183	.	A	G	2223.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.942;DP=411;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.257;SOR=0.674	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,105,1575	6	0	1	0
chr11	93727041	93727041	G	C	exonic	CEP295	.	nonsynonymous SNV	CEP295:NM_033395:exon24:c.G6565C:p.D2189H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0627290268959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.65419	D	0.007	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.961269	0.38226	D	.	.	.	2.7	0.12162	T	-2.89	0.91741	D	0.267	0.30233	-1.1284	0.01860	T	0.074	0.29802	T	9	0.19471207	0.35294	T	0.062729	0.68745	D	0.130	0.35528	0.147	0.05039	0.0551355673512	0.04727	0.27316930415486157	0.27229	0.49495215039	0.48045	0.372965693474	0.21257	T	0.075327	0.41984	T	-0.000609525	0.51569	T	-0.238652	0.50931	T	0.934062898159027	0.60127	D	0.920608	0.71304	D	0.2534646	0.48369	0.26996863	0.52882	0.2534646	0.48369	0.26996863	0.52881	-4.275	0.27825	T	.	.	0.579	0.67990	P	.;.;.;.	.;.;.;.	3.559212	0.50069	22.9	0.9946669895051059	0.66102	0.52695	0.29193	D	AEFBCI	0.234058	0.35688	N	0.334906410481555	0.57948	3.964424	0.28076376067752	0.54418	3.606756	0.999999987646141	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	5.61	5.61	0.85347	1.657000	0.36981	3.395000	0.38093	0.618000	0.50648	0.111000	0.23011	1.000000	0.68203	0.885000	0.42453	0.0:0.0:1.0:0.0	15.131	0.72200	836	0.38045	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	151.44	33	chr11	93727041	.	G	C	151.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.282;DP=201;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.83;ReadPosRankSum=0.319;SOR=0.941	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1057	6	0	1	0
chr11	93754023	93754023	G	A	exonic	C11orf54	.	nonsynonymous SNV	C11orf54:NM_001286070:exon4:c.G259A:p.G87R,C11orf54:NM_001351993:exon4:c.G259A:p.G87R,C11orf54:NM_001286068:exon5:c.G316A:p.G106R,C11orf54:NM_001286069:exon5:c.G316A:p.G106R,C11orf54:NM_001286071:exon5:c.G316A:p.G106R,C11orf54:NM_001351990:exon5:c.G259A:p.G87R,C11orf54:NM_001351991:exon5:c.G316A:p.G106R,C11orf54:NM_001351992:exon5:c.G316A:p.G106R,C11orf54:NM_014039:exon5:c.G316A:p.G106R,C11orf54:NM_001286067:exon6:c.G316A:p.G106R,C11orf54:NM_001351985:exon6:c.G316A:p.G106R,C11orf54:NM_001351986:exon6:c.G316A:p.G106R,C11orf54:NM_001351987:exon6:c.G316A:p.G106R,C11orf54:NM_001351988:exon6:c.G316A:p.G106R,C11orf54:NM_001351989:exon6:c.G316A:p.G106R	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.739	0.0273401208162	0.0021	0.000599042	0.0004	0.0051	8.639e-05	0	0	3.001e-05	0	0	0.000401	62	154602	rs111749614	0.0002	0.0002	0.0002	0.0002	0.0053	0.0002	0.0002	0.0047	0.0045	0.0053	0.0001	0.0003	0.0002	0	0.0016	1.529e-05	0.0008	4.638e-05	0.0015	0.0015	0.0015	0.0014	0.0050	0.0013	0.0012	0.0045	0.0042	0.0050	0	0.0007	0	0.0002	0	0	1.47e-05	0	0.0002	0.004	0.72154	D	0.042	0.70582	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.047201	1	0.81001	D	2.67	0.78151	M	.	.	.	-6.42	0.92476	D	0.962	0.99670	0.094	0.84066	D	0.447	0.78294	T	9	0.035144866	0.01750	T	0.02734	0.50160	D	0.739	0.90939	0.752	0.88237	0.680820311638	0.67810	0.875609550741208	0.87527	0.265596492825	0.29113	.	.	.	0.23439	0.64985	T	0.136663	0.68006	D	0.425311	0.92906	D	0.0909151369614218	0.11326	T	0.905509	0.66687	D	0.83386487	0.86173	0.6429655	0.79134	0.83386487	0.86175	0.6429655	0.79135	-3.629	0.26461	T	.	.	0.330	0.75089	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.256437	0.88258	29.5	0.99911036292469724	0.98022	0.99636	0.98212	D	AEFBI	0.936708	0.93343	D	0.818610696165557	0.87256	9.155199	0.73835651946531	0.85286	8.535024	0.999999925573182	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.68	4.68	0.58319	9.045000	0.93277	8.563000	0.77575	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	17.780	0.88432	819	0.41190	Domain of unknown function DUF1907|Domain of unknown function DUF1907|Domain of unknown function DUF1907;Domain of unknown function DUF1907|Domain of unknown function DUF1907|Domain of unknown function DUF1907;.;Domain of unknown function DUF1907|Domain of unknown function DUF1907|Domain of unknown function DUF1907;Domain of unknown function DUF1907|Domain of unknown function DUF1907|Domain of unknown function DUF1907;Domain of unknown function DUF1907|Domain of unknown function DUF1907|Domain of unknown function DUF1907;Domain of unknown function DUF1907|Domain of unknown function DUF1907|Domain of unknown function DUF1907;Domain of unknown function DUF1907|Domain of unknown function DUF1907|Domain of unknown function DUF1907;Domain of unknown function DUF1907|Domain of unknown function DUF1907|Domain of unknown function DUF1907;Domain of unknown function DUF1907|Domain of unknown function DUF1907|Domain of unknown function DUF1907;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	197.47	20	chr11	93754023	.	G	A	197.47	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.44;DP=95;ExcessHet=0;FS=1.922;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-0.348;SOR=1.402	GT:AD:DP:GQ:PL	0/0:18,0:18:45:0,45,675	5	0	1	1
chr11	94073087	94073087	G	A	exonic	HEPHL1	.	nonsynonymous SNV	HEPHL1:NM_001098672:exon7:c.G1295A:p.R432Q	.	0	225	1	0	0	1	0.00221729	.	.	.	3206721	HEPHL1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.310	.	0.0100	0.0081869	0.0031	0.0315	0.0017	0	0.0015	0.0005	0.0045	0.0001	0.0029236	452	154602	rs78786722	0.0013	0.0013	0.0014	0.0012	0.0321	0.0013	0.0012	0.0305	0.0299	0.0321	0.0026	7.661e-05	2.52e-05	0.0015	0.0026	0.0004	0.0029	0.0002	0.0090	0.0090	0.0092	0.0088	0.0296	0.0086	0.0085	0.0282	0.0277	0.0296	0	0.0048	0	0	0.0015	0	0.0004	0.0109	0	0.417	0.09927	T	0.46	0.12597	T	0.003	0.11197	B	0.002	0.06944	B	0.563590	0.11311	N	0.822486	0.999628	0.20843	N	0.445	0.12748	N	-5.29	0.98959	D	-0.64	0.18670	N	0.164	0.17278	0.119	0.84515	D	0.683	0.89051	D	10	0.005366564	0.00118	T	.	.	.	0.310	0.63162	.	.	0.382761230579	0.37889	0.6867809471568777	0.68618	0.0422618080471	0.04555	0.190293341875	0.00230	T	0.028318	0.20539	T	-0.434092	0.01401	T	-0.372634	0.36581	T	0.000776231852140198	0.00007	T	0.779122	0.41282	T	0.03177751	0.03079	0.037940696	0.03556	0.03177751	0.03079	0.037940696	0.03556	-3.637	0.18393	T	.	.	0.068	0.02670	B	.	.	0.910134	0.12847	9.358	0.7832028188089184	0.12250	0.08018	0.13996	N	AEFBI	0.047971	0.08137	N	-1.08934122503407	0.06838	0.3159561	-1.05124998407491	0.08681	0.4280247	1.31955141705747E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.76	0.043	0.13535	0.093000	0.14925	0.333000	0.17304	-0.105000	0.15698	0.020000	0.19661	0.003000	0.18671	0.891000	0.42908	0.7216:0.0:0.2784:0.0	11.548	0.49955	759	0.50631	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.005051	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.07143	476.83	34	chr11	94073087	.	G	A	476.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.512;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-0.409;SOR=0.627	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1079	6	0	1	0
chr11	94544731	94544731	G	A	exonic	FUT4	.	nonsynonymous SNV	FUT4:NM_002033:exon1:c.G598A:p.G200R	.	434	1073	13	2	0	17	0.00785945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0050	0.00219649	0.0126	0.0016	0.0078	0	0.0213	0.0193	0.0132	0.0032	0.0048253	746	154602	rs201519706	0.0094	0.0092	0.0096	0.0091	0.0105	0.0092	0.0092	0.0104	0.0103	0.0012	0.0047	0.0197	2.705e-05	0.0081	0.0055	0.0105	0.0075	0.0025	0.0067	0.0067	0.0072	0.0062	0.0099	0.0064	0.0062	0.0093	0.0090	0.0019	0.0033	0.0058	0.0239	0	0.0061	0.0102	0.0099	0.0076	0.0017	0.346	0.12469	T	0.577	0.08594	T	0.002	0.09854	B	0.006	0.12133	B	0.228016	0.15985	U	0.578909	1	0.08975	N	1.61	0.41143	L	1.91	0.23283	T	-1.3	0.32590	N	0.081	0.05670	-0.9846	0.33927	T	0.023	0.09832	T	10	0.0037264526	0.00069	T	.	.	.	0.018	0.03083	0.469	0.54214	0.173771789658	0.16945	0.545966886776455	0.54522	1.07679982734	0.77000	0.794945120811	0.81194	T	0.037335	0.24438	T	-0.57537	0.00206	T	-0.589861	0.13677	T	0.00287349530812968	0.00030	T	0.540346	0.18307	T	0.04525807	0.07378	0.051566597	0.08325	0.04525807	0.07378	0.051566597	0.08325	-3.744	0.19970	T	.	.	0.109	0.20702	B	.	.	1.132314	0.15190	11.66	0.93142993099454197	0.22788	0.05029	0.10812	N	AEFDBHCI	0.101107	0.20315	N	-1.32369092715106	0.03406	0.1520741	-1.32616571478158	0.04095	0.1924414	0.999999902486384	0.74766	0.56387	0.32371	0	0.218748	0.04544	0	0.503968	0.08637	0	0.492483	0.08430	1	.	.	4.28	1.37	0.21200	0.479000	0.21938	3.085000	0.36255	-0.424000	0.05221	0.000000	0.06391	0.999000	0.35428	0.071000	0.16709	0.3476:0.1899:0.4626:0.0	4.988	0.13544	818	0.41518	Fucosyltransferase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006736	0.000000	0.005510	0.002994	0.000000	0.000000	0.012821	0.011364	0.07143	734.83	25	chr11	94544731	.	G	A	734.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.43;DP=172;ExcessHet=0;FS=10.324;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.5;ReadPosRankSum=1.93;SOR=0.474	GT:AD:DP:GQ:PL	0/1:13,29:42:99:745,0,286	6	0	1	0
chr11	94998741	94998741	C	G	exonic	KDM4D	.	nonsynonymous SNV	KDM4D:NM_018039:exon3:c.C1369G:p.P457A	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00304413607917	0.0038	0.000998403	0.0033	0.0013	0.0005	0	0.0036	0.0046	0.0045	0.0032	0.0034282	530	154602	rs144086807	0.0046	0.0046	0.0046	0.0046	0.0053	0.0045	0.0045	0.0052	0.0051	0.0006	0.0013	0.0004	2.52e-05	0.0038	0.0017	0.0053	0.0036	0.0034	0.0029	0.0029	0.0032	0.0025	0.0050	0.0027	0.0026	0.0040	0.0039	0.0010	0	0.0022	0	0	0.0028	0	0.0044	0.0028	0.0050	0.076	0.34269	T	0.086	0.40909	T	0.91	0.50240	P	0.265	0.39681	B	0.003127	0.35389	U	0.179179	1	0.08975	N	2.14	0.59869	M	1.6	0.28604	T	-3.26	0.65397	D	0.108	0.11197	-1.0513	0.14036	T	0.028	0.11795	T	10	0.0063998103	0.00145	T	0.003044	0.06547	T	0.038	0.09825	.	.	0.284150004643	0.28039	0.26446141084854	0.26359	0.862885287998	0.69039	0.390718340874	0.23771	T	0.189515	0.54376	T	-0.607276	0.00132	T	-0.641361	0.09570	T	0.0302647934102925	0.02030	T	0.39496	0.09912	T	0.07316669	0.16330	0.10498403	0.25228	0.07316669	0.16330	0.10498403	0.25227	-5.978	0.46096	T	.	.	0.064	0.01986	B	.;.;.	.;.;.	1.193731	0.15853	12.15	0.95283455619903568	0.26580	0.07903	0.13891	N	AEFDGBI	0.024469	0.01520	N	-0.610203648669138	0.18637	0.9691789	-0.75671581148419	0.15557	0.8188044	0.014838044841766	0.12644	0.490419	0.18000	1	0.588066	0.40923	0	0.667716	0.60424	0	0.567892	0.33627	0	.	.	3.52	1.58	0.22557	0.726000	0.25653	-0.056000	0.12484	0.524000	0.24156	0.016000	0.19238	0.000000	0.08366	0.004000	0.06068	0.0:0.6512:0.2251:0.1236	4.706	0.12230	944	0.12746	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.005102	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	103.44	33	chr11	94998741	.	C	G	103.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.242;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.14;SOR=0.368	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	6	0	1	0
chr11	95026213	95026213	A	G	exonic	KDM4E	.	nonsynonymous SNV	KDM4E:NM_001161630:exon1:c.A656G:p.H219R	.	434	1083	5	0	0	5	0.00230309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	.	.	0.00479233	0.0041	0.0002	0.0003	0.0001	0	6.008e-05	0.0033	0.0290	0.0034734	537	154602	rs563454932	0.0018	0.0018	0.0010	0.0026	0.0280	0.0017	0.0017	0.0271	0.0267	0	0.0002	0	2.519e-05	0	0.0019	5.575e-05	0.0020	0.0280	0.0008	0.0008	0.0004	0.0013	0.0239	0.0007	0.0007	0.0204	0.0191	7.227e-05	0	0	0	0	0	0	8.829e-05	0.0009	0.0239	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999446	0.21182	N	-2.095	0.00157	N	-0.52	0.70717	T	4.56	0.00034	N	0.075	0.04913	-0.9170	0.45958	T	0.042	0.17952	T	9	0.0041848123	0.00083	T	.	.	.	0.140	0.37593	0.492	0.57890	0.043077524339	0.03247	0.47628530091073634	0.47548	0.431286790697	0.43342	0.722756564617	0.70449	T	0.004679	0.04092	T	-0.570353	0.00220	T	-0.570419	0.15411	T	0.020213558055547	0.00721	T	0.622038	0.23930	T	0.07239761	0.16100	0.041845765	0.04850	0.07239761	0.16100	0.041845765	0.04849	-1.189	0.01235	T	.	.	0.049	0.00107	B	.	.	-0.067603	0.03838	0.824	0.18754802748313712	0.00603	0.00161	0.00961	N	AEFGBI	0.014744	0.00248	N	-1.61909717250521	0.01172	0.05095243	-1.46445417317676	0.02642	0.1218672	0.598334702221061	0.21704	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.84	0.89	0.18352	0.710000	0.25421	1.776000	0.28675	-0.311000	0.06080	0.000000	0.06391	0.075000	0.22287	0.027000	0.12703	0.3259:0.0:0.6741:0.0	4.521	0.11363	944	0.12746	JmjC domain|JmjC domain|JmjC domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.018939	0.07143	2751.44	41	chr11	95026213	.	A	G	2751.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.42;DP=464;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.6;MQRankSum=-3.793;QD=11.66;ReadPosRankSum=2.24;SOR=0.707	GT:AD:DP:GQ:PL	0/1:126,110:236:99:2762,0,3329	6	0	1	0
chr11	95026776	95026776	T	G	exonic	KDM4E	.	nonsynonymous SNV	KDM4E:NM_001161630:exon1:c.T1219G:p.F407V	.	433	1082	7	0	0	7	0.00322432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	.	0.0072	0.00279553	0.0059	0.0006	0.0099	0	0	0.0068	0	0.0065	0.0020116	311	154602	rs143234858	0.0104	0.0098	0.0105	0.0102	0.0120	0.0102	0.0102	0.0118	0.0117	0.0016	0.0037	0.0005	0	0.0107	0.0026	0.0120	0.0085	0.0047	0.0068	0.0068	0.0074	0.0061	0.0113	0.0064	0.0063	0.0107	0.0104	0.0019	0	0.0032	0.0009	0	0.0093	0.0034	0.0113	0.0066	0.0033	0.436	0.09374	T	0.333	0.18395	T	0.002	0.09854	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	1.77	0.25841	T	0.79	0.01893	N	0.097	0.07811	-0.9890	0.32853	T	0.019	0.07846	T	9	0.004265785	0.00085	T	.	.	.	0.003	0.00094	.	.	0.043077524339	0.03247	0.15765746771663278	0.15686	0.463039974516	0.45817	0.356590986252	0.18889	T	0.001397	0.00857	T	-0.666727	0.00057	T	-0.719452	0.04823	T	0.000738389523539531	0.00007	T	0.217178	0.02724	T	0.02557602	0.01512	0.033147153	0.02162	0.02557602	0.01512	0.033147153	0.02161	-2.47	0.05580	T	.	.	0.080	0.07650	B	.	.	-0.385564	0.02267	0.234	0.33409785763846811	0.01988	0.00132	0.00814	N	AEFDBI	0.024669	0.01565	N	-1.29220034184438	0.03768	0.168928	-1.37451679846921	0.03525	0.1646331	0.536882318896718	0.21221	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.27	-1.49	0.08259	-0.394000	0.07357	-4.566000	0.02092	-1.134000	0.01451	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4209:0.3167:0.2625	2.449	0.04238	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001111	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.010638	0.07143	559.49	41	chr11	95026776	.	T	G	559.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.746;DP=286;ExcessHet=0;FS=5.023;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.88;ReadPosRankSum=1.16;SOR=0.419	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	6	0	1	0
chr11	95027059	95027059	T	A	exonic	KDM4E	.	nonsynonymous SNV	KDM4E:NM_001161630:exon1:c.T1502A:p.M501K	.	430	1053	36	3	0	42	0.0195531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	.	0.0053	0.00878594	0.0220	0.0012	0.0184	0	0	0.0142	0.0181	0.0344	0.0037322	577	154602	rs138237692	0.0069	0.0065	0.0062	0.0076	0.0326	0.0068	0.0067	0.0316	0.0312	0.0013	0.0024	0.0315	0.0001	0.0008	0.0233	0.0049	0.0093	0.0326	0.0046	0.0046	0.0043	0.0048	0.0292	0.0043	0.0042	0.0253	0.0238	0.0009	0	0.0026	0.0305	0.0002	0.0004	0.0102	0.0051	0.0061	0.0292	0.001	0.78490	D	0.002	0.79402	D	0.813	0.45457	P	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	1.66	0.27486	T	-0.76	0.21215	N	0.097	0.07811	-1.0483	0.14875	T	0.024	0.10103	T	9	0.003069669	0.00051	T	.	.	.	0.166	0.42578	.	.	.	.	0.6004198705781656	0.59972	0.56785414273	0.53028	0.431474715471	0.29409	T	0.004693	0.04103	T	-0.503249	0.00548	T	-0.470592	0.25453	T	0.0105413857863969	0.00146	T	0.271273	0.04576	T	0.4697091	0.65272	0.35971227	0.61425	0.4697091	0.65273	0.35971227	0.61425	-2.291	0.04506	T	.	.	0.087	0.10979	B	.	.	0.395647	0.07671	4.341	0.81177585983080713	0.13557	0.02618	0.07200	N	AEFGBI	0.034436	0.04266	N	-0.712274400931302	0.15677	0.7921231	-0.856568180653819	0.13130	0.6794357	0.621212821137092	0.21887	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.82	1.82	0.24209	-0.467000	0.06741	-3.521000	0.02724	-0.371000	0.05444	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.0:1.0	5.691	0.17102	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019360	0.017045	0.024691	0.030769	0.000000	0.017857	0.022321	0.020548	0.07143	668.63	31	chr11	95027059	.	T	A	668.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.12;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.57;ReadPosRankSum=2.01;SOR=0.638	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	6	0	1	0
chr11	96384356	96384356	C	T	exonic	CCDC82	.	nonsynonymous SNV	CCDC82:NM_001318737:exon4:c.G392A:p.S131N,CCDC82:NM_001363594:exon4:c.G392A:p.S131N,CCDC82:NM_024725:exon4:c.G392A:p.S131N,CCDC82:NM_001318736:exon5:c.G392A:p.S131N	.	488	991	37	6	0	49	0.024126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0022	0.00499201	0.0059	0	0.0034	0.0002	0.0003	0.0034	0.0133	0.0263	0.0051293	793	154602	rs143022124	0.0020	0.0020	0.0013	0.0026	0.0179	0.0019	0.0019	0.0172	0.0169	0.0003	0.0013	0.0023	2.521e-05	0.0001	0.0106	0.0009	0.0022	0.0179	0.0029	0.0029	0.0023	0.0036	0.0301	0.0027	0.0026	0.0261	0.0246	0.0004	0	0.0028	0.0023	0	9.432e-05	0.0136	0.0033	0.0024	0.0301	1.0	0.00964	T	0.501	0.11153	T	0.002	0.09854	B	0.005	0.11217	B	0.512704	0.05156	N	1.233760	1	0.08975	N	0.805	0.20218	L	1.81	0.25182	T	-0.26	0.11185	N	0.042	0.01498	-1.0088	0.27292	T	0.043	0.18701	T	10	0.0033774972	0.00059	T	.	.	.	0.018	0.03083	.	.	0.159798565429	0.15598	0.03132535768265218	0.03081	0.0574924983243	0.06368	0.307645320892	0.11552	T	0.001217	0.00709	T	-0.661212	0.00062	T	-0.727489	0.04443	T	0.00389319789664587	0.00041	T	0.332367	0.08817	T	0.18073986	0.39209	0.06620944	0.13531	0.18073986	0.39209	0.06620944	0.13530	-6.996	0.55445	T	.	.	0.078	0.20896	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	0.559908	0.09286	6.066	0.88297889401585861	0.17867	0.06405	0.12408	N	AEFDGBHCI	0.037299	0.05108	N	-1.04098532032772	0.07766	0.3618497	-1.11817198183985	0.07352	0.3573358	0.999549943018494	0.40300	0.722319	0.85440	0	0.724815	0.89359	0	0.608884	0.39905	0	0.735409	0.98432	0	.	.	4.48	-1.45	0.08365	-0.764000	0.04841	-0.229000	0.10694	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2623:0.3623:0.1287:0.2467	0.874	0.01142	.	.	Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;.;Domain of unknown function DUF4196	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.017623	0.005051	0.005435	0.002924	0.050000	0.043103	0.024390	0.053030	0.1429	3139.24	120	chr11	96384356	.	C	T	3139.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.36;DP=518;ExcessHet=0.3476;FS=2.96;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=1.32;SOR=0.859	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,114,1710	5	0	2	0
chr11	96384648	96384648	T	C	exonic	CCDC82	.	nonsynonymous SNV	CCDC82:NM_001318737:exon4:c.A100G:p.I34V,CCDC82:NM_001363594:exon4:c.A100G:p.I34V,CCDC82:NM_024725:exon4:c.A100G:p.I34V,CCDC82:NM_001318736:exon5:c.A100G:p.I34V	.	442	1077	2	1	0	4	0.00185357	.	.	.	2813695	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.010	0.00405633087208	0.0049	0.00159744	0.0062	0.0023	0.0049	0	0.0032	0.0085	0.0077	0.0048	0.0061448	950	154602	rs61746142	0.0085	0.0085	0.0087	0.0083	0.0100	0.0083	0.0083	0.0099	0.0098	0.0012	0.0033	0.0003	0	0.0043	0.0010	0.0100	0.0068	0.0047	0.0050	0.0050	0.0051	0.0049	0.0083	0.0047	0.0046	0.0077	0.0075	0.0020	0	0.0037	0	0.0004	0.0040	0.0034	0.0083	0.0014	0.0012	0.109	0.30235	T	0.485	0.11725	T	0.057	0.25382	B	0.008	0.21085	B	0.167116	0.17485	N	0.547247	0.999998	0.08975	N	1.355	0.33814	L	1.64	0.36330	T	-0.41	0.24026	N	0.084	0.06059	-1.0580	0.12260	T	0.037	0.15856	T	10	0.004320413	0.00087	T	0.004056	0.09650	T	0.010	0.01040	.	.	0.128392430309	0.12331	0.03246650822448868	0.03194	0.0558040157175	0.06170	0.323720544577	0.13984	T	0.005127	0.04570	T	-0.586136	0.00177	T	-0.604333	0.12449	T	0.000532614131962509	0.00004	T	0.632737	0.25562	T	0.025093345	0.01409	0.03949914	0.04056	0.025093345	0.01409	0.03949914	0.04056	-3.114	0.14748	T	.	.	0.080	0.30555	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	0.140784	0.05347	1.832	0.87427180107164959	0.17219	0.12635	0.17388	N	AEFDGBCI	0.057984	0.10845	N	-0.920064602714276	0.10374	0.4953863	-0.934372669290222	0.11287	0.5740504	0.99588090631717	0.34386	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.03	-0.339	0.12019	-0.705000	0.05154	-0.204000	0.10916	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.845000	0.39915	0.0:0.0809:0.4346:0.4844	7.478	0.26559	.	.	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.003021	0.005051	0.002717	0.002924	0.000000	0.000000	0.006098	0.000000	0.07143	1049.44	42	chr11	96384648	.	T	C	1049.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.04;DP=325;ExcessHet=0;FS=0.707;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=2.01;SOR=0.784	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,114,1710	6	0	1	0
chr11	101062632	101062632	G	A	exonic	PGR	.	nonsynonymous SNV	PGR:NM_000926:exon4:c.C2027T:p.S676L,PGR:NM_001202474:exon4:c.C1535T:p.S512L,PGR:NM_001271162:exon4:c.C245T:p.S82L	.	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.0273127792291	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1348573263	4.105e-06	4.104e-06	2.723e-06	5.501e-06	5.396e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.093	0.47336	T	0.983	0.60381	D	0.889	0.63100	P	0.038818	0.24242	N	0.444177	0.99988	0.81001	D	2.34	0.67151	M	1.08	0.39401	T	-3.59	0.69236	D	0.294	0.41952	-0.6328	0.63451	T	0.264	0.63555	T	10	0.3948059	0.55149	T	0.027313	0.50134	D	0.191	0.46948	0.43	0.47843	0.617811438573	0.61472	0.4416887717016699	0.44085	.	.	0.409538656473	0.26393	T	0.626272	0.88357	D	-0.104021	0.35758	T	-0.387196	0.34881	T	0.951486527919769	0.63572	D	0.931607	0.75876	D	0.29830423	0.52752	0.27874166	0.53837	0.29830423	0.52752	0.27874166	0.53836	-5.256	0.39784	T	.	.	0.079	0.07177	B	.;.;.;.	.;.;.;.	4.344840	0.66682	25.0	0.99907801671946317	0.97801	0.98599	0.84543	D	AEFI	0.887431	0.81968	D	0.684169912146127	0.78595	6.903434	0.664003079033879	0.79658	7.12905	0.819482280195119	0.24498	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.5	5.5	0.81386	7.616000	0.82218	11.796000	0.96513	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.676000	0.33425	0.0:0.0:1.0:0.0	19.387	0.94548	875	0.30485	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1094.63	35	chr11	101062632	.	G	A	1094.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.54;DP=299;ExcessHet=0;FS=1.533;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.9;ReadPosRankSum=0.468;SOR=0.87	GT:AD:DP:GQ:PL	0/1:77,46:123:99:1105,0,1957	6	0	1	0
chr11	101127464	101127464	T	G	exonic	PGR	.	nonsynonymous SNV	PGR:NM_000926:exon1:c.A1607C:p.Q536P,PGR:NM_001202474:exon1:c.A1115C:p.Q372P,PGR:NM_001271161:exon1:c.A1115C:p.Q372P	.	0	1519	3	0	0	3	0.000986518	.	.	.	724155	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.043	.	0.0031	0.00858626	0.0036	0.0567	0.0048	0	0	0.0001	0	0.0001	0.0010931	169	154602	rs11571152	0.0005	0.0005	0.0006	0.0005	0.0175	0.0005	0.0005	0.0163	0.0158	0.0175	0.0013	0	0	0	0.0012	4.411e-05	0.0019	9.991e-05	0.0047	0.0047	0.0048	0.0045	0.0159	0.0044	0.0043	0.0149	0.0145	0.0159	0	0.0028	0	0	0	0	7.358e-05	0.0019	0	0.092	0.38863	T	0.253	0.27679	T	0.055	0.22733	B	0.026	0.20792	B	0.716625	0.09970	N	0.773349	0.967196	0.81001	D	1.5	0.37844	L	2.95	0.09635	T	-1.61	0.40660	N	0.246	0.36148	-1.0455	0.15680	T	0.017	0.06950	T	10	0.0048434734	0.00103	T	.	.	.	0.043	0.11576	.	.	0.399796912067	0.39594	0.5782030882205793	0.57749	.	.	0.718276500702	0.69795	T	0.110623	0.42546	T	-0.532922	0.00369	T	-0.524002	0.19890	T	0.020587926921167	0.00759	T	0.70223	0.32446	T	0.35324353	0.57318	0.37499183	0.62653	0.35324353	0.57318	0.37499183	0.62652	-3.504	0.24460	T	.	.	0.064	0.08224	B	.;.;.;.	.;.;.;.	2.191271	0.27940	17.63	0.9358195746043747	0.23430	0.76269	0.37393	D	AEFDBHCIJ	0.182000	0.30932	N	-0.655192677972204	0.17309	0.8895835	-0.544082436977531	0.20963	1.131827	0.999996945565946	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.03	2.87	0.32523	0.863000	0.27567	1.855000	0.29283	-0.279000	0.06446	1.000000	0.71638	1.000000	0.68203	0.783000	0.37026	0.0:0.0:0.3506:0.6493	9.327	0.37159	893	0.26510	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002709	0.011494	0.001374	0.000000	0.000000	0.018182	0.000000	0.000000	0.07143	391.63	27	chr11	101127464	.	T	G	391.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.024;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.16;ReadPosRankSum=-0.411;SOR=0.599	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	6	0	1	0
chr11	102162521	102162521	C	A	exonic	YAP1	.	nonsynonymous SNV	YAP1:NM_001130145:exon3:c.C638A:p.T213K,YAP1:NM_001195044:exon3:c.C638A:p.T213K,YAP1:NM_001195045:exon3:c.C104A:p.T35K,YAP1:NM_001282097:exon3:c.C638A:p.T213K,YAP1:NM_001282098:exon3:c.C638A:p.T213K,YAP1:NM_001282099:exon3:c.C638A:p.T213K,YAP1:NM_001282100:exon3:c.C638A:p.T213K,YAP1:NM_001282101:exon3:c.C638A:p.T213K,YAP1:NM_006106:exon3:c.C638A:p.T213K	Coloboma, ocular, Autosomal dominant;Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2233931	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.130	0.00760506450727	.	0.000199681	1.648e-05	0.0002	0	0	0	0	0	0	1.94e-05	3	154602	rs200650003	1.231e-05	1.231e-05	6.806e-06	1.788e-05	0.0004	7.7e-06	6.35e-06	0.0003	0.0002	0.0004	4.472e-05	0	0	0	0	0	3.311e-05	0	4.595e-05	4.593e-05	2.569e-05	6.712e-05	0.0002	2.107e-05	1.526e-05	7.87e-05	5.574e-05	0.0002	0	0	0	0	0	0	0	0	0	0.511	0.09572	T	0.434	0.13673	T	0.411	0.37079	B	0.11	0.37679	B	0.001513	0.38793	N	0.290148	0.812256	0.30350	N	0.99	0.25021	L	0.89	0.46028	T	-1.32	0.39503	N	0.497	0.57946	-1.0175	0.24528	T	0.079	0.31314	T	10	0.09032649	0.15726	T	0.007605	0.20166	T	0.130	0.35528	.	.	0.110392049598	0.10638	0.40752520381612994	0.40668	0.525322443723	0.50200	0.543293893337	0.44911	T	0.225538	0.59030	T	-0.371696	0.03509	T	-0.4755	0.24926	T	0.0826900050084876	0.10328	T	0.922308	0.72678	D	0.08258636	0.19031	0.12517367	0.30162	0.08258636	0.19030	0.12517367	0.30162	-4.605	0.57589	T	0.21669167706955653	0.29153	0.451	0.68846	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.970278	0.39582	21.0	0.92021988544798061	0.21360	0.94841	0.62515	D	AEFDGBI	0.802518	0.72792	D	-0.173984877108781	0.34220	1.950631	-0.0222789705838811	0.38710	2.284618	0.999999999965853	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.59	5.59	0.84677	6.339000	0.72918	3.984000	0.40930	0.599000	0.40250	0.994000	0.38300	0.406000	0.24735	0.642000	0.32476	0.0:1.0:0.0:0.0	19.587	0.95487	716	0.55970	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1849.63	33	chr11	102162521	.	C	A	1849.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.584;DP=348;ExcessHet=0;FS=0.58;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-1.36;SOR=0.607	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1413	6	0	1	0
chr11	102362928	102362928	A	G	exonic	BIRC2	.	nonsynonymous SNV	BIRC2:NM_001166:exon4:c.A1028G:p.E343G,BIRC2:NM_001256163:exon4:c.A1028G:p.E343G,BIRC2:NM_001256166:exon4:c.A881G:p.E294G	.	.	.	.	.	.	.	.	.	.	.	2241207	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.136	0.00595390804845	.	0.000199681	1.728e-05	0.0002	0	0	0	0	0	0	1.94e-05	3	154602	rs201120793	1.232e-05	1.231e-05	6.812e-06	1.789e-05	0.0004	7.7e-06	6.35e-06	0.0003	0.0002	0.0004	4.474e-05	0	0	0	0	0	3.315e-05	0	4.596e-05	4.593e-05	2.57e-05	6.713e-05	0.0002	2.108e-05	1.526e-05	7.869e-05	5.573e-05	0.0002	0	0	0	0	0	0	0	0	0	0.032	0.72154	D	0.005	0.76473	D	0.008	0.14655	B	0.003	0.08700	B	0.002182	0.37053	N	0.343759	0.998288	0.48481	D	1.205	0.30389	L	3.69	0.12371	T	-4.87	0.81269	D	0.219	0.24510	-1.1125	0.02864	T	0.045	0.19437	T	10	0.12517071	0.23783	T	0.005954	0.15520	T	0.136	0.36778	.	.	0.558227216974	0.55483	0.44195471791922536	0.44112	0.187294551966	0.21046	0.410552859306	0.26534	T	0.105645	0.75745	T	-0.381817	0.03035	T	-0.490038	0.23388	T	0.0985247708953936	0.12194	T	0.751525	0.37371	T	0.48975477	0.66488	0.29314896	0.55343	0.48975477	0.66489	0.29314896	0.55343	-4.774	0.34743	T	.	.	0.073	0.08176	B	.;.;.;.;.;.	.;.;.;.;.;.	3.070603	0.41274	21.3	0.98805030082331102	0.46525	0.83453	0.42569	D	AEFGBI	0.112560	0.22243	N	-0.391538388422518	0.25769	1.401362	-0.349149306409963	0.26535	1.466315	0.982124388674888	0.30356	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.31	2.91	0.32903	2.764000	0.47295	4.184000	0.42357	-0.208000	0.08445	1.000000	0.71638	1.000000	0.68203	0.697000	0.34049	0.8246:0.0:0.1754:0.0	8.428	0.31901	862	0.33134	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	790.45	34	chr11	102362928	.	A	G	790.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.721;DP=250;ExcessHet=0;FS=1.872;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=-0.86;SOR=0.944	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,959	6	0	1	0
chr11	102775202	102775202	A	G	exonic	MMP10	.	nonsynonymous SNV	MMP10:NM_002425:exon7:c.T1052C:p.V351A	.	.	.	.	.	.	.	.	.	.	.	2370968	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.00592495614423	.	.	8.564e-05	0	0	0	0	0.0002	0	0	7.12e-05	11	154602	rs201248623	7.286e-05	7.456e-05	7.446e-05	7.124e-05	0.0012	6.134e-05	5.675e-05	0.0006	0.0004	3.043e-05	0	0.0017	0	0	0.0012	3.899e-05	0.0002	0	8.545e-05	8.538e-05	0.0001	6.727e-05	7.352e-05	4.959e-05	3.964e-05	2.847e-05	1.859e-05	0	0	0	0.0023	0	0	0	7.352e-05	0	0	0.025	0.47320	D	0.027	0.55341	D	1.0	0.90584	D	1.0	0.97372	D	0.327313	0.14172	N	0.606658	1	0.08975	N	2.49	0.72568	M	4.11	0.02916	T	-3.37	0.66665	D	0.431	0.47022	-1.0483	0.14875	T	0.024	0.10284	T	10	0.09551877	0.17065	T	0.005925	0.15430	T	0.053	0.14996	.	.	0.311387274539	0.30754	0.7331489841672488	0.73259	0.0397582316544	0.04249	0.353751987219	0.18473	T	0.161217	0.50538	T	-0.303548	0.08329	T	-0.492891	0.23087	T	0.982672333717346	0.74634	D	0.669833	0.27843	T	0.13769291	0.31873	0.17728305	0.40320	0.13769291	0.31873	0.17728305	0.40319	-6.97	0.53814	T	.	.	0.251	0.48561	B	.	.	2.440107	0.31407	18.73	0.98986417993702669	0.49841	0.15222	0.18805	N	AEFI	0.096428	0.19467	N	-0.105063175976889	0.37172	2.158828	-0.31366329384255	0.27656	1.536214	1.1303491965864E-5	0.02871	0.706298	0.61202	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	4.23	3.1	0.34780	3.134000	0.50233	5.241000	0.48062	0.751000	0.87719	0.027000	0.20232	0.999000	0.35428	0.463000	0.28185	0.8309:0.0:0.1691:0.0	8.024	0.29586	768	0.49510	Hemopexin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	174.53	17	chr11	102775202	.	A	G	174.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.86;DP=148;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.11;SOR=0.892	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,962	6	0	1	0
chr11	102871809	102871809	C	T	exonic	MMP12	.	nonsynonymous SNV	MMP12:NM_002426:exon3:c.G494A:p.R165H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.00119808	0.0004	0.0040	0.0002	0	0	0	0	0.0001	0.0003105	48	154602	rs61730845	0.0001	0.0001	0.0001	0.0001	0.0039	0.0001	0.0001	0.0033	0.0031	0.0039	0.0004	0	0	0	0	1.71e-05	0.0003	0.0002	0.0011	0.0011	0.0012	0.0010	0.0039	0.0010	0.0009	0.0034	0.0032	0.0039	0	0.0004	0	0	0	0	2.94e-05	0.0005	0	.	.	.	0.518	0.10536	T	0.018	0.17786	B	0.002	0.06944	B	.	.	.	.	.	.	.	.	.	.	0.55	0.54728	T	.	.	.	0.107	0.09207	.	.	.	.	.	.	.	0.0066146255	0.00150	T	.	.	.	.	.	.	.	0.500994481783	0.49735	0.5039522868909695	0.50317	.	.	0.201184004545	0.00492	T	0.100561	0.40647	T	-0.488127	0.00666	T	-0.474457	0.25037	T	.	.	.	0.744226	0.36418	T	0.10593887	0.25049	0.11957267	0.28860	0.10593887	0.25049	0.11957267	0.28859	-6.126	0.47322	T	.	.	0.089	0.12037	B	.	.	-0.775123	0.01156	0.055	0.36164242022524651	0.02311	0.04719	0.10413	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.896948939006969	0.25990	0.06567	0.01388	0	0.063388	0.01293	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0554835	0.12919	5.31	-10.6	0.00212	-0.989000	0.03846	-3.145000	0.03023	-0.780000	0.03343	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1483:0.3609:0.2987:0.192	2.873	0.05276	732	0.54084	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	1241.44	33	chr11	102871809	.	C	T	1241.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.25;DP=321;ExcessHet=0;FS=1.429;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=1.07;SOR=0.77	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	6	0	1	0
chr11	103236469	103236469	A	G	exonic	DYNC2H1	.	nonsynonymous SNV	DYNC2H1:NM_001080463:exon63:c.A9749G:p.Q3250R,DYNC2H1:NM_001377:exon63:c.A9749G:p.Q3250R	Short-rib thoracic dysplasia 3 with or without polydactyly, Autosomal recessive, Digenic recessive	11	1492	18	1	0	20	0.00665779	.	.	.	195492	Asphyxiating_thoracic_dystrophy_3|not_provided|Short_rib-polydactyly_syndrome|not_specified|Jeune_thoracic_dystrophy	MONDO:MONDO:0013127,MedGen:C0036069,OMIM:613091,Orphanet:474,Orphanet:93269,Orphanet:93270,Orphanet:93271|MedGen:C3661900|MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505|MedGen:CN169374|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.174	.	0.0012	0.00239617	0.0029	0.0002	0.0009	0	0	0.0022	0.0022	0.0116	0.002652	410	154602	rs140830294	0.0023	0.0024	0.0021	0.0026	0.0115	0.0023	0.0022	0.0109	0.0106	0.0002	0.0011	0.0131	0	0.0002	0.0112	0.0016	0.0031	0.0115	0.0019	0.0019	0.0020	0.0017	0.0114	0.0017	0.0016	0.0090	0.0081	0.0003	0	0.0026	0.0138	0	0.0002	0.0068	0.0017	0.0038	0.0114	0.282	0.19430	T	0.552	0.09393	T	0.065	0.37483	B	0.056	0.39069	B	0.000457	0.44317	D	0.198629	0.999991	0.81001	D	0.875	0.21512	L	1.65	0.38883	T	-2.25	0.50337	N	0.51	0.57946	-1.0627	0.11093	T	0.092	0.35119	T	10	0.009339243	0.00211	T	.	.	.	0.174	0.44019	.	.	0.716290961394	0.71379	0.6241017257502343	0.62343	0.0691000608039	0.07735	0.715855002403	0.69442	T	0.171879	0.52016	T	-0.361006	0.04073	T	-0.281941	0.46606	T	0.0231418284931443	0.01040	T	0.863414	0.55914	D	0.45513895	0.64367	0.37592888	0.62726	0.4375642	0.63245	0.43919477	0.67280	-9.413	0.70316	D	0.39480278463588137	0.48747	0.273	0.54529	B	.;.;.;.	.;.;.;.	3.637035	0.51552	23.1	0.996764475609072	0.78977	0.98797	0.86978	D	AEFI	0.909330	0.86581	D	0.186195066284451	0.50537	3.242698	0.36461638688929	0.59393	4.116746	0.99924527578784	0.38873	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.69	5.69	0.88346	8.800000	0.91521	.	.	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.990	0.79993	603	0.67726	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008065	0.000000	0.008152	0.017647	0.050000	0.008621	0.000000	0.007576	0.1429	1215.04	34	chr11	103236469	.	A	G	1215.04	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.269;DP=231;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.641;SOR=0.669	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1003	5	0	2	0
chr11	103307763	103307763	C	A	exonic	DYNC2H1	.	nonsynonymous SNV	DYNC2H1:NM_001377:exon78:c.C11425A:p.L3809I,DYNC2H1:NM_001080463:exon79:c.C11446A:p.L3816I	Short-rib thoracic dysplasia 3 with or without polydactyly, Autosomal recessive, Digenic recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.0585458828103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.881e-07	5.472e-06	1.368e-06	0	1.183e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.183e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.021	0.58089	D	0.999	0.77913	D	0.971	0.72444	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.42	0.70002	M	2.32	0.16640	T	-1.69	0.40274	N	0.703	0.70702	-1.0474	0.15130	T	0.116	0.41031	T	10	0.6748878	0.70932	D	0.058546	0.67355	D	0.207	0.49555	0.786	0.90919	0.660486739397	0.65764	0.49093012128177593	0.49013	0.252812971659	0.27842	0.579860329628	0.50066	T	0.111991	0.42791	T	-0.00821936	0.50515	T	-0.249583	0.49859	T	0.960235178470612	0.65749	D	0.911709	0.68653	D	0.70368195	0.78259	0.5322124	0.72970	0.70368195	0.78260	0.5322124	0.72971	-4.735	0.33824	T	0.594408558605154	0.66126	0.295	0.56599	B	.;.;.;.	.;.;.;.	4.226068	0.63962	24.6	0.99560097179666873	0.71707	0.98593	0.84474	D	AEFBI	0.651445	0.62519	D	0.717106522129192	0.80751	7.364769	0.696970593510241	0.82148	7.695999	0.707025339280287	0.22772	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.421255	0.06892	1	.	.	5.53	5.53	0.82530	4.541000	0.60381	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9264:0.0:0.0736	13.711	0.62150	649	0.63102	Dynein heavy chain domain;Dynein heavy chain domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr11	103307763	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1023	6	1	0	0
chr11	106010659	106010659	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259C:p.A87P,MSANTD4:NM_001318748:exon2:c.G259C:p.A87P,MSANTD4:NM_001318749:exon2:c.G259C:p.A87P,MSANTD4:NM_001318750:exon2:c.G259C:p.A87P,MSANTD4:NM_032424:exon2:c.G259C:p.A87P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00459803515366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.232	0.56192	T	0.789	0.44570	P	0.266	0.39732	B	0.000011	0.62929	D	0.111292	0.997442	0.43893	D	0.895	0.22405	L	.	.	.	-1.67	0.45404	N	0.439	0.47765	-0.9091	0.46965	T	0.128	0.43524	T	9	0.3502357	0.51900	T	0.004598	0.11377	T	0.141	0.37795	0.425	0.47021	0.354822389136	0.35094	0.7275256235572604	0.72696	0.716697243913	0.62006	0.596363663673	0.52391	T	0.064719	0.32505	T	0.133721	0.67721	D	-0.0456953	0.67316	D	0.881986200809479	0.53207	D	0.772023	0.40277	T	0.39838198	0.60620	0.35209376	0.60793	0.39838198	0.60621	0.35209376	0.60792	-6.644	0.51388	T	.	.	0.505	0.65603	A	.;.;.	.;.;.	3.825878	0.55270	23.6	0.996785884463948	0.79108	0.93283	0.57804	D	AEFGBI	0.427184	0.49123	N	0.316991759729759	0.57021	3.867974	0.412391093461756	0.62335	4.447326	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	6014.11	64	chr11	106010659	.	C	G	6014.11	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-5.649;DP=935;ExcessHet=3.1439;FS=266.032;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=7.64;ReadPosRankSum=3.18;SOR=10.936	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:138,40:220:12:.:.:2637,12,5436:.	2	0	2	3
chr11	106010659	106010659	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259A:p.A87T,MSANTD4:NM_001318748:exon2:c.G259A:p.A87T,MSANTD4:NM_001318749:exon2:c.G259A:p.A87T,MSANTD4:NM_001318750:exon2:c.G259A:p.A87T,MSANTD4:NM_032424:exon2:c.G259A:p.A87T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0031863420769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.25457	T	0.456	0.54934	T	0.002	0.09854	B	0.003	0.08700	B	0.000011	0.62929	D	0.111292	0.991109	0.41309	D	0.55	0.14455	N	.	.	.	-1.05	0.27463	N	0.139	0.13769	-0.8825	0.49561	T	0.177	0.52240	T	9	0.14178061	0.26937	T	0.003186	0.06966	T	0.144	0.38394	0.324	0.30549	0.333651784274	0.32972	0.3745214875372276	0.37366	0.306637953789	0.32968	0.538885176182	0.44288	T	0.040073	0.25406	T	-0.0969372	0.36933	T	-0.37702	0.36071	T	0.432566970586777	0.30156	T	0.762724	0.38847	T	0.054357305	0.10418	0.07319845	0.15878	0.054357305	0.10417	0.07319845	0.15878	-3.821	0.21119	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	3.124977	0.42209	21.5	0.99583064835214086	0.73099	0.90270	0.51314	D	AEFGBI	0.218300	0.34332	N	-0.0132163549372124	0.41258	2.464544	0.177121742542613	0.48595	3.073425	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	6014.11	64	chr11	106010659	.	C	T	6014.11	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-5.649;DP=935;ExcessHet=3.1439;FS=266.032;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=7.64;ReadPosRankSum=3.18;SOR=10.936	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:138,42:220:12:.:.:2637,0,5380:.	2	0	2	3
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N,MSANTD4:NM_001318748:exon2:c.G258C:p.K86N,MSANTD4:NM_001318749:exon2:c.G258C:p.K86N,MSANTD4:NM_001318750:exon2:c.G258C:p.K86N,MSANTD4:NM_032424:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6438.8	64	chr11	106010660	.	C	G	6438.8	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-2.366;DP=932;ExcessHet=3.1439;FS=287.19;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=8.22;ReadPosRankSum=3.22;SOR=9.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,93:231:99:0|1:106010660_C_G:3037,0,5377:106010660	0	0	4	3
chr11	106010663	106010663	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G255A:p.M85I,MSANTD4:NM_001318748:exon2:c.G255A:p.M85I,MSANTD4:NM_001318749:exon2:c.G255A:p.M85I,MSANTD4:NM_001318750:exon2:c.G255A:p.M85I,MSANTD4:NM_032424:exon2:c.G255A:p.M85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00279040284091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.465	0.47097	T	0.002	0.09854	B	0.004	0.10090	B	0.000001	0.84330	D	0.055431	0.902327	0.36202	D	-0.69	0.01958	N	.	.	.	-0.5	0.23156	N	0.133	0.12913	-0.9843	0.33998	T	0.104	0.38218	T	9	0.1143381	0.21509	T	0.00279	0.05810	T	0.047	0.12962	0.294	0.25720	0.256793551483	0.25290	0.12417175146048018	0.12343	0.345896987908	0.36490	0.592615962029	0.51864	T	0.021651	0.16823	T	-0.0923724	0.37684	T	-0.370463	0.36834	T	0.580747902393341	0.35647	D	0.831217	0.49813	T	0.22625625	0.45303	0.16779238	0.38690	0.22625625	0.45303	0.16779238	0.38689	-3.688	0.19141	T	.	.	0.249	0.48345	B	.;.;.	.;.;.	3.089872	0.41597	21.4	0.98105666193469465	0.38310	0.97626	0.75993	D	AEFGBI	0.400041	0.47508	N	-0.174858718993864	0.34183	1.948093	0.081881515894591	0.43638	2.661421	0.99999720305351	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.803000	0.38500	5.949000	0.51615	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8636:0.1364:0.0	15.669	0.77014	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	4841.7	72	chr11	106010663	.	C	T	4841.7	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-4.068;DP=942;ExcessHet=3.1439;FS=240.854;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.98;ReadPosRankSum=3.4;SOR=10.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:139,62:231:99:.:.:2390,0,5443:.	1	0	3	3
chr11	106010663	106010663	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G255C:p.M85I,MSANTD4:NM_001318748:exon2:c.G255C:p.M85I,MSANTD4:NM_001318749:exon2:c.G255C:p.M85I,MSANTD4:NM_001318750:exon2:c.G255C:p.M85I,MSANTD4:NM_032424:exon2:c.G255C:p.M85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0028274219259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.465	0.47097	T	0.002	0.09854	B	0.004	0.10090	B	0.000001	0.84330	D	0.055431	0.905747	0.36282	D	-0.69	0.01958	N	.	.	.	-0.5	0.23156	N	0.133	0.12913	-0.9883	0.33027	T	0.104	0.38218	T	9	0.11421201	0.21482	T	0.002827	0.05927	T	0.043	0.11576	0.294	0.25720	0.256793551483	0.25290	0.12417172391841125	0.12343	0.345896987908	0.36490	0.592615962029	0.51864	T	0.021651	0.16823	T	-0.0923564	0.37687	T	-0.37044	0.36836	T	0.580747902393341	0.35647	D	0.831217	0.49813	T	0.22625625	0.45303	0.16779238	0.38690	0.22625625	0.45303	0.16779238	0.38689	-3.688	0.19141	T	.	.	0.249	0.48345	B	.;.;.	.;.;.	3.013320	0.40302	21.1	0.9790952007803857	0.36801	0.97322	0.74021	D	AEFGBI	0.400041	0.47508	N	-0.174858718993864	0.34183	1.948093	0.081881515894591	0.43638	2.661421	0.99999720305351	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.803000	0.38500	5.949000	0.51615	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8636:0.1364:0.0	15.669	0.77014	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	4841.7	72	chr11	106010663	.	C	G	4841.7	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-4.068;DP=942;ExcessHet=3.1439;FS=240.854;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=5.98;ReadPosRankSum=3.4;SOR=10.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:139,30:231:99:.:.:2390,746,6289:.	3	0	1	3
chr11	106010664	106010664	A	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.T254C:p.M85T,MSANTD4:NM_001318748:exon2:c.T254C:p.M85T,MSANTD4:NM_001318749:exon2:c.T254C:p.M85T,MSANTD4:NM_001318750:exon2:c.T254C:p.M85T,MSANTD4:NM_032424:exon2:c.T254C:p.M85T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00433488665054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.369e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.019	0.69154	D	0.007	0.14184	B	0.034	0.22546	B	0.000001	0.84330	D	0.055431	0.974346	0.39097	D	0	0.06538	N	.	.	.	-0.98	0.25986	N	0.258	0.29197	-0.9720	0.36776	T	0.117	0.41209	T	9	0.18700442	0.34192	T	0.004335	0.10529	T	0.101	0.28911	0.307	0.27806	0.379881503574	0.37595	0.25955710480305316	0.25869	0.399169766946	0.40951	0.666570842266	0.62349	T	0.035133	0.23597	T	0.00410563	0.52221	T	-0.231879	0.51589	T	0.783289670944214	0.45256	D	0.79692	0.44048	T	0.42211768	0.62233	0.30941108	0.56956	0.42211768	0.62233	0.30941108	0.56955	-1.765	0.02407	T	.	.	0.407	0.59964	A	.;.;.	.;.;.	3.510524	0.49159	22.7	0.97899140483582825	0.36731	0.98220	0.80657	D	AEFGBI	0.640959	0.61847	D	-0.0622681486623968	0.39056	2.297149	0.183205801398182	0.48926	3.102239	0.999999972724126	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	6.214000	0.72143	11.169000	0.87908	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.275	0.82465	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	5505.39	72	chr11	106010664	.	A	G	5505.39	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-2.258;DP=944;ExcessHet=3.1439;FS=239.419;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=6.77;ReadPosRankSum=3.45;SOR=10.876	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,94:233:99:0|1:106010660_C_G:3050,0,5407:106010660	0	0	4	3
chr11	106010666	106010666	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G252C:p.R84S,MSANTD4:NM_001318748:exon2:c.G252C:p.R84S,MSANTD4:NM_001318749:exon2:c.G252C:p.R84S,MSANTD4:NM_001318750:exon2:c.G252C:p.R84S,MSANTD4:NM_032424:exon2:c.G252C:p.R84S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.00263902560473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.126	0.35205	T	0.0	0.02946	B	0.002	0.06944	B	0.002354	0.36727	N	0.299972	0.940449	0.37297	D	0	0.06538	N	.	.	.	-0.92	0.30346	N	0.251	0.28381	-1.0080	0.27541	T	0.094	0.35738	T	9	0.1405603	0.26716	T	0.002639	0.05377	T	0.091	0.26358	0.372	0.38340	0.242244723065	0.23846	0.4756825840453807	0.47487	0.36371238007	0.37996	0.486390650272	0.36939	T	0.038357	0.24810	T	-0.044157	0.45330	T	-0.301205	0.44598	T	0.151699825485391	0.17238	T	0.768023	0.39669	T	0.17611994	0.38507	0.08817525	0.20542	0.17611994	0.38507	0.08817525	0.20542	-1.715	0.02269	T	.	.	0.270	0.51532	B	.;.;.	.;.;.	2.446286	0.31491	18.76	0.97835174456350893	0.36285	0.94199	0.60414	D	AEFGBI	0.377723	0.46139	N	-0.305756252056347	0.28928	1.599811	-0.153352819634721	0.33280	1.902022	0.954896934348277	0.28157	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	2.85	0.32333	0.527000	0.22695	0.199000	0.15831	0.599000	0.40250	0.998000	0.41325	0.973000	0.29867	0.998000	0.85391	0.1462:0.4856:0.1263:0.2419	1.994	0.03243	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	4790.7	66	chr11	106010666	.	C	G	4790.7	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-3.743;DP=960;ExcessHet=3.1439;FS=231.764;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=5.79;ReadPosRankSum=3.75;SOR=10.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:143,30:235:99:.:.:2379,746,6308:.	3	0	1	3
chr11	106010667	106010667	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G251A:p.R84K,MSANTD4:NM_001318748:exon2:c.G251A:p.R84K,MSANTD4:NM_001318749:exon2:c.G251A:p.R84K,MSANTD4:NM_001318750:exon2:c.G251A:p.R84K,MSANTD4:NM_032424:exon2:c.G251A:p.R84K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00259240547793	.	0.000199681	8.238e-06	0	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs561321456	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	6.572e-06	1.313e-05	1.286e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.218	0.19090	T	0.747	0.04860	T	0.0	0.02946	B	0.002	0.06944	B	0.002354	0.36727	N	0.299972	0.844051	0.35114	D	0.69	0.16971	N	.	.	.	-0.07	0.08495	N	0.114	0.10198	-0.8777	0.49943	T	0.136	0.45241	T	9	0.07382545	0.11204	T	0.002592	0.05235	T	0.042	0.11227	0.367	0.37524	0.274366138417	0.27033	0.40402514392590105	0.40318	0.389484333747	0.40189	0.525025010109	0.42334	T	0.028825	0.20791	T	-0.16679	0.25721	T	-0.380505	0.35662	T	0.222574869783589	0.21591	T	0.680032	0.28847	T	0.098485895	0.23231	0.10551929	0.25367	0.098485895	0.23231	0.10551929	0.25367	-3.047	0.10696	T	.	.	0.080	0.07697	B	.;.;.	.;.;.	2.801802	0.36860	20.4	0.67663913896592942	0.08422	0.86253	0.45498	D	AEFGBI	0.191163	0.31837	N	-0.163816012127879	0.34649	1.980253	0.0201264286488667	0.40651	2.429427	0.997302788968075	0.35478	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	4.01	0.45821	2.982000	0.49027	4.834000	0.45225	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8616:0.0:0.1384	12.064	0.52876	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	4766.7	66	chr11	106010667	.	C	T	4766.7	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-4.542;DP=966;ExcessHet=3.1439;FS=231.764;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.73;ReadPosRankSum=4.07;SOR=10.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:144,62:236:99:.:.:2376,0,5469:.	1	0	3	3
chr11	106010667	106010667	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G251C:p.R84T,MSANTD4:NM_001318748:exon2:c.G251C:p.R84T,MSANTD4:NM_001318749:exon2:c.G251C:p.R84T,MSANTD4:NM_001318750:exon2:c.G251C:p.R84T,MSANTD4:NM_032424:exon2:c.G251C:p.R84T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.0045302189412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.142	0.33330	T	0.006	0.13644	B	0.028	0.21332	B	0.002354	0.36727	N	0.299972	0.972449	0.38947	D	0.69	0.16971	N	.	.	.	-0.93	0.25118	N	0.472	0.50778	-0.8196	0.53959	T	0.172	0.51421	T	9	0.21586516	0.38151	T	0.00453	0.11157	T	0.261	0.57352	0.4	0.42917	0.368183359018	0.36430	0.4395240752523136	0.43869	0.554340016678	0.52180	0.520652651787	0.41718	T	0.041089	0.25741	T	0.0192097	0.54274	T	-0.210183	0.53679	T	0.5633824467659	0.34983	D	0.816918	0.47330	T	0.12641793	0.29610	0.08971571	0.20995	0.12641793	0.29609	0.08971571	0.20995	-2.359	0.04888	T	.	.	0.161	0.35643	B	.;.;.	.;.;.	3.378534	0.46720	22.3	0.92203589481258563	0.21574	0.98334	0.81734	D	AEFGBI	0.506459	0.53717	D	-0.108043926882725	0.37041	2.14946	0.0663629535781314	0.42871	2.600689	0.997302788968075	0.35478	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	4.01	0.45821	2.982000	0.49027	4.834000	0.45225	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8616:0.0:0.1384	12.064	0.52876	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	4766.7	66	chr11	106010667	.	C	G	4766.7	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-4.542;DP=966;ExcessHet=3.1439;FS=231.764;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=5.73;ReadPosRankSum=4.07;SOR=10.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:144,30:236:99:.:.:2376,746,6315:.	3	0	1	3
chr11	107439126	107439126	G	T	exonic	CWF19L2	.	nonsynonymous SNV	CWF19L2:NM_152434:exon6:c.C628A:p.P210T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	.	0.0066	0.00658946	0.0021	0.0226	0.0012	0	0	0	0.0024	6.894e-05	0.001824	282	154602	rs608634	0.0006	0.0006	0.0007	0.0005	0.0208	0.0005	0.0005	0.0196	0.0190	0.0208	0.0009	0	0	0	0.0005	6.316e-06	0.0014	0.0001	0.0052	0.0052	0.0053	0.0051	0.0180	0.0049	0.0048	0.0169	0.0165	0.0180	0	0.0025	0	0	0	0	0	0.0043	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999863	0.50061	D	2.965	0.85198	M	2.01	0.21291	T	-4.78	0.80510	D	0.628	0.64223	-0.8311	0.53231	T	0.104	0.38316	T	10	0.008489549	0.00192	T	.	.	.	0.399	0.71321	.	.	0.540835050783	0.53735	0.3401947053512284	0.33932	0.117737145212	0.13261	0.533866941929	0.43580	T	0.069748	0.33786	T	-0.31253	0.07527	T	-0.204785	0.54193	T	0.0607051904911149	0.07279	T	0.941006	0.77964	D	0.7571886	0.81288	0.6281088	0.78313	0.7571886	0.81289	0.6281088	0.78314	-9.898	0.73298	D	.	.	0.736	0.74447	P	.	.	4.624411	0.73463	26.0	0.99748428553001867	0.84077	0.98668	0.85355	D	AEFBI	0.804119	0.72907	D	0.937852763014062	0.93487	12.07199	0.894057597333644	0.95310	13.50061	0.997267986236029	0.35436	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.75	5.75	0.90390	7.628000	0.82379	11.286000	0.91899	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.862000	0.40904	0.0:0.0:1.0:0.0	18.945	0.92591	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.001359	0.002924	0.000000	0.017241	0.000000	0.000000	0.07143	413.64	29	chr11	107439126	.	G	T	413.64	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.504;DP=168;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=-0.68;SOR=0.693	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,912	6	0	1	0
chr11	107505101	107505101	G	A	exonic	ALKBH8	.	nonsynonymous SNV	ALKBH8:NM_001378133:exon11:c.C1402T:p.L468F,ALKBH8:NM_001301010:exon12:c.C1552T:p.L518F,ALKBH8:NM_138775:exon12:c.C1552T:p.L518F	.	.	.	.	.	.	.	.	.	.	.	2199074	ALKBH8-related_disorder|not_specified	.|MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.244	0.0247422075473	0.0007	0.000199681	0.0003	0.0033	0	0	0	0	0	0	7.12e-05	11	154602	rs193041881	9.077e-05	8.687e-05	0.0001	7.68e-05	0.0031	7.753e-05	7.281e-05	0.0026	0.0024	0.0031	0.0003	0	0	0	0.0005	9.268e-07	0.0002	8.835e-05	0.0007	0.0007	0.0008	0.0006	0.0024	0.0006	0.0006	0.0020	0.0019	0.0024	0	0.0004	0	0	0	0	1.47e-05	0.0009	0	0.004	0.65419	D	0.007	0.69154	D	0.999	0.90584	D	0.949	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.45	0.92227	M	0.64	0.52867	T	-3.55	0.68764	D	0.531	0.60664	-0.4602	0.70061	T	0.328	0.69623	T	10	0.021187931	0.00502	T	0.024742	0.47726	T	0.244	0.55061	.	.	0.489728331402	0.48607	0.4954710785829484	0.49468	0.0631787556016	0.07030	0.465049266815	0.34002	T	0.313398	0.68515	T	-0.221115	0.17842	T	-0.0934434	0.63901	T	0.152366245995638	0.17290	T	0.851715	0.53598	D	0.51379305	0.67901	0.43899456	0.67266	0.51379305	0.67902	0.43899456	0.67266	-12.939	0.89110	D	.	.	0.393	0.59398	A	.;.;.	.;.;.	4.043366	0.59881	24.2	0.99898150791624973	0.97048	0.98617	0.84749	D	AEFBI	0.856346	0.77357	D	0.781010042867045	0.84903	8.419927	0.733028167663065	0.84886	8.418588	0.999999662065049	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	7.679000	0.83364	9.759000	0.81503	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.882000	0.42233	0.0:0.0:1.0:0.0	18.128	0.89522	712	0.56465	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1874.46	40	chr11	107505101	.	G	A	1874.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.793;DP=328;ExcessHet=0;FS=2.148;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.917;SOR=0.504	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1183	6	0	1	0
chr11	108271322	108271322	T	G	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon20:c.T2993G:p.V998G,ATM:NM_001351834:exon21:c.T2993G:p.V998G	Ataxia-telangiectasia, Autosomal recessive;Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell, somatic (3);T-cell prolymphocytic leukemia, somatic (3)	.	.	.	.	.	.	.	.	.	YES	1339189	Hereditary_cancer-predisposing_syndrome|Ataxia-telangiectasia_syndrome	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.321	0.174173598399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	0.331	0.33259	B	0.155	0.34417	B	0.002179	0.37095	N	0.292374	0.90718	0.27583	N	2.52	0.73523	M	-0.37	0.68892	T	-3.42	0.67241	D	0.43	0.57092	-0.5981	0.64895	T	0.255	0.62530	T	10	0.35413826	0.52204	T	0.174174	0.85064	D	0.321	0.64318	0.475	0.55182	0.861009271105	0.85966	0.4730220890422419	0.47221	0.230515957003	0.25597	0.392387211323	0.24005	T	0.258485	0.62964	T	0.156173	0.69844	D	-0.0134454	0.69459	D	0.915135324001312	0.57204	D	0.562944	0.19809	T	0.1783063	0.38842	0.14759818	0.34923	0.1783063	0.38842	0.14759818	0.34922	-6.09	0.47026	T	0.7518491501624083	0.83391	0.382	0.58564	A	.;.;.	.;.;.	4.685599	0.75034	26.3	0.98036514820968335	0.37751	0.92715	0.56369	D	AEFBI	0.429650	0.49268	N	0.0658705109782523	0.44877	2.753773	0.133235069316772	0.46259	2.87485	0.150963880409304	0.17439	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.8	5.8	0.92081	4.483000	0.59995	7.817000	0.69620	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.834000	0.39329	0.0:0.0794:0.0:0.9206	10.774	0.45540	144	0.94257	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	564.53	38	chr11	108271322	.	T	G	564.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.065;DP=248;ExcessHet=0;FS=2.696;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-1.7;SOR=0.473	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr11	108304736	108304736	A	T	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon37:c.A5558T:p.D1853V,ATM:NM_001351834:exon38:c.A5558T:p.D1853V	Ataxia-telangiectasia, Autosomal recessive;Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell, somatic (3);T-cell prolymphocytic leukemia, somatic (3)	1	1498	21	2	0	25	0.00827541	.	.	YES	137362	Hereditary_breast_ovarian_cancer_syndrome|not_specified|Familial_cancer_of_breast|Ataxia-telangiectasia_syndrome|Breast_and/or_ovarian_cancer|Malignant_tumor_of_breast|Hereditary_cancer-predisposing_syndrome|not_provided	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:CN169374|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100|MedGen:CN221562|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.589	0.421415473121	0.0048	0.00179712	0.0052	0.0012	0.0024	0	0.0026	0.0069	0.0055	0.0064	0.004987	771	154602	rs1801673	0.0049	0.0049	0.0048	0.0049	0.0058	0.0048	0.0048	0.0054	0.0052	0.0005	0.0032	0.0071	5.041e-05	0.0036	0.0038	0.0052	0.0050	0.0058	0.0044	0.0044	0.0046	0.0042	0.0073	0.0041	0.0040	0.0068	0.0066	0.0008	0.0077	0.0029	0.0072	0.0002	0.0029	0	0.0073	0.0024	0.0050	0.006	0.61437	D	0.007	0.69154	D	0.881	0.48446	P	0.423	0.45170	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.51	0.73131	M	-0.75	0.73311	T	-4.52	0.78302	D	0.666	0.78832	-0.1943	0.77818	T	0.330	0.69800	T	10	0.016077608	0.00338	T	0.421415	0.93800	D	0.589	0.83582	.	.	0.862668985381	0.86133	0.5754807337306314	0.57477	0.230346816679	0.25583	0.484472572803	0.36672	T	0.26251	0.63409	T	0.0244139	0.54975	T	0.267279	0.86437	D	0.032220271790473	0.02342	T	0.90061	0.65471	D	0.6116418	0.73316	0.329566	0.58835	0.6022599	0.72813	0.26657072	0.52504	-7.74	0.59285	D	0.4752428700619266	0.55493	0.417	0.60512	A	.;.	.;.	4.271423	0.64994	24.8	0.99282703511633685	0.57973	0.97398	0.74496	D	AEFGBI	0.662245	0.63218	D	0.535458318470551	0.69203	5.323629	0.570547549243884	0.72837	5.873341	0.999923395911117	0.46280	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.52	5.52	0.82153	5.468000	0.66473	7.973000	0.76046	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	15.936	0.79492	145	0.94217	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.011364	0.07143	190.49	37	chr11	108304736	.	A	T	190.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.08;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.62;ReadPosRankSum=-1.027;SOR=0.582	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1178	6	0	1	0
chr11	108393341	108393341	G	A	exonic	C11orf65	.	nonsynonymous SNV	C11orf65:NM_001330368:exon5:c.C451T:p.H151Y,C11orf65:NM_001351110:exon6:c.C505T:p.H169Y,C11orf65:NM_152587:exon7:c.C598T:p.H200Y	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00142466595705	0.0033	0.00159744	0.0031	0.0010	0.0013	0	0.0002	0.0044	0.0011	0.0030	0.0031047	480	154602	rs137901968	0.0043	0.0043	0.0042	0.0044	0.0049	0.0042	0.0042	0.0048	0.0047	0.0008	0.0025	0.0051	2.521e-05	0.0004	0.0014	0.0049	0.0043	0.0034	0.0034	0.0034	0.0036	0.0032	0.0067	0.0032	0.0031	0.0056	0.0052	0.0008	0	0.0067	0.0040	0	0.0007	0	0.0051	0.0052	0.0017	0.149	0.26192	T	0.086	0.44302	T	0.0	0.02946	B	0.001	0.04355	B	0.000065	0.00414	N	3.664140	1	0.08975	N	-0.35	0.03145	N	1.52	0.30669	T	-0.9	0.24244	N	0.219	0.28381	-1.0358	0.18606	T	0.025	0.10910	T	10	0.004632592	0.00097	T	0.001425	0.02113	T	0.042	0.11227	.	.	0.192905019026	0.18896	0.03895708595876958	0.03841	0.11852074789	0.13345	.	.	.	0.014941	0.12627	T	-0.654347	0.00068	T	-0.710781	0.05255	T	0.00916749033956144	0.00116	T	0.0712929	0.00680	T	0.040328994	0.05735	0.04746531	0.06844	0.040328994	0.05735	0.04746531	0.06843	-3.901	0.23143	T	.	.	0.082	0.08997	B	.;.;.;.;.	.;.;.;.;.	-0.927581	0.00880	0.032	0.66627587341138883	0.08114	0.01409	0.04766	N	AEFDI	0.054284	0.09858	N	-1.70251596831542	0.00833	0.03601972	-1.84883497735651	0.00615	0.02732961	0.999997631954574	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.54	-11.1	0.00116	-2.431000	0.01100	-2.283000	0.03953	-0.780000	0.03343	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3845:0.1295:0.2102:0.2758	0.920	0.01230	340	0.86005	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1565.44	33	chr11	108393341	.	G	A	1565.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.52;DP=310;ExcessHet=0;FS=2.335;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=1.83;SOR=0.937	GT:AD:DP:GQ:PL	0/1:63,64:127:99:1576,0,1453	6	0	1	0
chr11	108510951	108510951	A	C	exonic	EXPH5	.	nonsynonymous SNV	EXPH5:NM_001144765:exon3:c.T3992G:p.L1331R,EXPH5:NM_001144764:exon4:c.T4088G:p.L1363R,EXPH5:NM_001144763:exon6:c.T4328G:p.L1443R,EXPH5:NM_015065:exon6:c.T4556G:p.L1519R,EXPH5:NM_001308019:exon7:c.T4535G:p.L1512R	Epidermolysis bullosa, nonspecific, autosomal recessive, Autosomal recessive	424	1083	15	0	0	15	0.00687758	.	.	.	1455390	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.112	0.010724032914	0.0003	.	0.0005	0.0003	0.0007	0	0	0.0007	0.0011	0.0002	0.0004786	74	154602	rs140766467	0.0005	0.0005	0.0004	0.0005	0.0116	0.0005	0.0004	0.0094	0.0086	0.0002	0.0010	7.655e-05	0	0	0.0116	0.0005	0.0008	0.0002	0.0004	0.0004	0.0003	0.0004	0.0007	0.0003	0.0003	0.0004	0.0003	9.628e-05	0	0.0007	0	0	0	0.0068	0.0005	0.0024	0.0002	0.008	0.58626	D	0.25	0.23707	T	.	.	.	.	.	.	0.028885	0.25534	N	0.338236	0.999996	0.08975	N	.	.	.	3.89	0.04014	T	-2.65	0.73788	D	0.225	0.56919	-1.0618	0.11312	T	0.032	0.13942	T	10	0.034558415	0.01668	T	0.010724	0.27578	T	0.112	0.31546	.	.	0.342168650903	0.33825	0.20203287735326667	0.20120	0.303277129939	0.32650	0.267671763897	0.05839	T	0.135641	0.46757	T	-0.419671	0.01719	T	-0.451018	0.27584	T	0.0316073637662647	0.02242	T	0.743426	0.36288	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25133	B	.;.;.	.;.;.	2.623839	0.34107	19.53	0.99668327807882495	0.78394	0.24089	0.22284	N	AEFDGBI	0.132037	0.25119	N	0.0557397263217358	0.44408	2.71533	-0.105103396036077	0.35184	2.032547	0.997812506045755	0.36062	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.72	4.59	0.56297	1.362000	0.33752	4.560000	0.43837	0.756000	0.94297	0.010000	0.18352	0.939000	0.28734	0.652000	0.32748	0.7967:0.0:0.2033:0.0	5.781	0.17571	819	0.41190	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.014602	0.005051	0.029891	0.011696	0.000000	0.008621	0.006098	0.000000	0.07143	1413.53	122	chr11	108510951	.	A	C	1413.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.015;DP=342;ExcessHet=0;FS=0.666;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-1.589;SOR=0.624	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1172	6	0	1	0
chr11	108512066	108512066	C	A	exonic	EXPH5	.	nonsynonymous SNV	EXPH5:NM_001144765:exon3:c.G2877T:p.M959I,EXPH5:NM_001144764:exon4:c.G2973T:p.M991I,EXPH5:NM_001144763:exon6:c.G3213T:p.M1071I,EXPH5:NM_015065:exon6:c.G3441T:p.M1147I,EXPH5:NM_001308019:exon7:c.G3420T:p.M1140I	Epidermolysis bullosa, nonspecific, autosomal recessive, Autosomal recessive	433	1079	9	1	0	11	0.00507146	.	.	.	701549	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.029	0.00356705609164	0.0042	0.00319489	0.0044	0.0014	0.0010	0.0005	0.0011	0.0061	0.0011	0.0057	0.0044049	681	154602	rs34012545	0.0058	0.0058	0.0057	0.0058	0.0066	0.0057	0.0056	0.0065	0.0064	0.0011	0.0012	0.0068	5.04e-05	0.0013	0.0009	0.0066	0.0046	0.0053	0.0040	0.0040	0.0041	0.0039	0.0066	0.0037	0.0036	0.0061	0.0059	0.0015	0	0.0022	0.0037	0	0.0014	0.0034	0.0066	0.0033	0.0048	0.436	0.09374	T	0.306	0.19972	T	.	.	.	.	.	.	0.367039	0.13584	N	0.702507	1	0.08975	N	.	.	.	4.39	0.03836	T	-0.47	0.16393	N	0.04	0.03613	-0.9843	0.33998	T	0.004	0.01470	T	10	0.0038924813	0.00074	T	0.003567	0.08154	T	0.029	0.06676	0.154	0.05752	0.115124310173	0.11017	0.0948001730633443	0.09412	0.0431053341588	0.04645	0.230860114098	0.02032	T	0.017766	0.14435	T	-0.667682	0.00057	T	-0.726587	0.04483	T	0.00373458209670396	0.00040	T	0.354665	0.08016	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.36495	B	.;.;.;.	.;.;.;.	-2.261242	0.00056	0.001	0.61618362058428144	0.06754	0.01714	0.05438	N	AEFDGBIJ	0.085099	0.17251	N	-1.89915804497989	0.00345	0.01480627	-2.00668450028868	0.00297	0.01309371	0.999999999857309	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.77	-11.5	0.00057	-2.639000	0.00938	-2.204000	0.04061	-1.911000	0.00515	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1961:0.5143:0.0:0.2895	8.088	0.29948	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.003525	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.003788	0.07143	316.44	38	chr11	108512066	.	C	A	316.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.226;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.73;ReadPosRankSum=1.12;SOR=0.804	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1172	6	0	1	0
chr11	108665284	108665284	C	G	exonic	DDX10	.	nonsynonymous SNV	DDX10:NM_004398:exon1:c.C131G:p.P44R	.	.	.	.	.	.	.	.	.	.	.	701552	DDX10-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.112	0.152899151302	0.0014	0.000599042	0.0020	0.0006	0.0011	0	0.0017	0.0032	0.0011	6.193e-05	0.0019922	308	154602	rs149622934	0.0025	0.0025	0.0026	0.0025	0.0027	0.0025	0.0024	0.0026	0.0026	0.0005	0.0010	0.0147	0	0.0016	0.0003	0.0027	0.0028	0.0001	0.0020	0.0020	0.0022	0.0019	0.0029	0.0019	0.0018	0.0025	0.0024	0.0006	0	0.0010	0.0182	0.0002	0.0009	0	0.0029	0.0009	0	0.076	0.37326	T	0.235	0.26306	T	0.998	0.73220	D	0.902	0.64047	P	0.000059	0.53742	D	0.202806	0.999817	0.49394	D	2.17	0.60663	M	1.14	0.38556	T	-2.11	0.48020	N	0.551	0.61764	-0.9770	0.35683	T	0.155	0.48550	T	10	0.007487476	0.00170	T	0.152899	0.83425	D	0.112	0.31546	.	.	0.633018970913	0.63001	0.5282833499407419	0.52752	0.394364968837	0.40593	0.645140051842	0.59295	T	0.011103	0.09952	T	-0.321875	0.06746	T	-0.235409	0.51246	T	0.0461818260257115	0.04817	T	0.849215	0.53152	T	0.2877102	0.51779	0.32508358	0.58426	0.2877102	0.51779	0.32508358	0.58426	-11.773	0.83727	D	.	.	0.194	0.46049	B	.;.	.;.	4.617019	0.73272	26.0	0.99672887424008916	0.78717	0.72724	0.35587	D	ALL	0.432954	0.49462	N	0.352017927762803	0.58845	4.059452	0.356677706135384	0.58911	4.06476	0.999999999999752	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.34	4.43	0.52967	4.387000	0.59391	7.357000	0.58325	0.462000	0.21616	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.9188:0.0:0.0812	12.079	0.52956	711	0.56613	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	456.45	41	chr11	108665284	.	C	G	456.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.787;DP=228;ExcessHet=0;FS=2.879;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=1.18;SOR=0.352	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1046	6	0	1	0
chr11	108723244	108723246	GAA	-	exonic	DDX10	.	nonframeshift deletion	DDX10:NM_004398:exon13:c.1747_1749del:p.E586del	.	.	.	.	.	.	.	.	.	.	.	3192108	DDX10-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0030	0.000798722	0.0003	0.0028	0.0002	0.0001	0	6.148e-05	0	0.0002	0.0002846	44	154602	rs563167397	0.0001	0.0001	0.0001	8.393e-05	0.0035	9.608e-05	9.087e-05	0.0030	0.0028	0.0035	0.0002	0	0	0	0.0005	4.498e-06	0.0004	6.963e-05	0.0010	0.0010	0.0011	0.0008	0.0034	0.0008	0.0008	0.0030	0.0028	0.0034	0	0.0001	0	0	0	0	2.941e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216760	0.568182	0.122419	0.105590	0.222222	0.145455	0.300676	0.170940	0.07143	1686.4	34	chr11	108723243	.	GGAA	G	1686.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.476;DP=275;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.53;ReadPosRankSum=-0.596;SOR=0.656	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1196	6	0	1	0
chr11	110579560	110579560	A	G	exonic	ARHGAP20	.	nonsynonymous SNV	ARHGAP20:NM_001258415:exon15:c.T3317C:p.V1106A,ARHGAP20:NM_001258417:exon15:c.T3278C:p.V1093A,ARHGAP20:NM_001258418:exon15:c.T3278C:p.V1093A,ARHGAP20:NM_001384657:exon15:c.T3386C:p.V1129A,ARHGAP20:NM_001258416:exon16:c.T3308C:p.V1103A,ARHGAP20:NM_020809:exon16:c.T3386C:p.V1129A	.	.	.	.	.	.	.	.	.	.	.	4042600	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.036	0.0039910432544	.	.	4.944e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs775605659	2.668e-05	2.668e-05	1.634e-05	3.714e-05	0.0005	1.998e-05	1.754e-05	0.0003	0.0003	0	0	0	0	0	0	0	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.459	0.10311	T	0.322	0.20037	T	0.001	0.09854	B	0.002	0.10090	B	0.714168	0.06275	N	1.156790	1	0.08975	N	1.845	0.48678	L	2.7	0.12268	T	-0.49	0.15578	N	0.039	0.02759	-0.9464	0.41582	T	0.016	0.06521	T	10	0.02541697	0.00737	T	0.003991	0.09462	T	0.036	0.09122	0.103	0.01643	0.117506650769	0.11410	0.1868770552063971	0.18605	0.129938835031	0.14657	0.283747285604	0.08021	T	0.02956	0.21156	T	-0.646469	0.00076	T	-0.816953	0.01515	T	0.0249811481058522	0.01270	T	0.505449	0.15971	T	0.03233241	0.03238	0.035887375	0.02927	0.03233241	0.03238	0.035887375	0.02927	-2.719	0.07464	T	.	.	0.075	0.26200	B	.;.;.;.;.;.	.;.;.;.;.;.	0.751715	0.11215	7.847	0.9522706550420581	0.26453	0.03520	0.08703	N	AEFBI	0.091896	0.18609	N	-1.18909962203163	0.05164	0.2347706	-1.21597358187187	0.05653	0.2699297	0.017080988799986	0.12909	0.553676	0.25195	0	0.563428	0.19063	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.91	-6.42	0.01760	-0.609000	0.05731	0.118000	0.14877	-0.057000	0.16691	0.000000	0.06391	0.000000	0.08366	0.824000	0.38829	0.2731:0.3156:0.3005:0.1107	2.306	0.03918	752	0.51611	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	525.83	36	chr11	110579560	.	A	G	525.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.68;DP=220;ExcessHet=0;FS=1.303;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=0.088;SOR=1.115	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1200	6	0	1	0
chr11	111354295	111354295	G	A	exonic	POU2AF1	.	nonsynonymous SNV	POU2AF1:NM_006235:exon5:c.C737T:p.A246V	.	424	1094	4	0	0	4	0.00182482	.	.	.	2301889	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.00279342309543	0.0003	.	0.0005	0	0.0003	0	0	0.0006	0.0011	0.0011	0.0004916	76	154602	rs140834337	0.0003	0.0003	0.0003	0.0004	0.0028	0.0003	0.0003	0.0017	0.0014	0.0003	0.0003	0.0008	0	3.744e-05	0.0028	0.0003	0.0006	0.0008	0.0003	0.0003	0.0003	0.0003	0.0012	0.0002	0.0002	0.0005	0.0004	9.616e-05	0	6.533e-05	0.0014	0	9.414e-05	0	0.0004	0.0014	0.0012	0.34	0.12714	T	0.362	0.16865	T	0.002	0.09854	B	0.002	0.06944	B	0.131179	0.18632	N	0.450401	1	0.08975	N	0.345	0.11182	N	1.65	0.27650	T	-1.0	0.26422	N	0.049	0.02088	-1.0582	0.12209	T	0.036	0.15465	T	10	0.024559349	0.00680	T	0.002793	0.05810	T	0.054	0.15330	.	.	0.151262610727	0.14761	0.2703619961533094	0.26949	0.262623937004	0.28828	0.303922563791	0.10988	T	0.135688	0.46764	T	-0.587453	0.00174	T	-0.67296	0.07420	T	0.025804669016672	0.01379	T	0.725927	0.34027	T	0.023682442	0.01129	0.029200047	0.01233	0.023682442	0.01129	0.029200047	0.01232	-3.515	0.16642	T	.	.	0.088	0.11701	B	.	.	1.096320	0.14803	11.34	0.98195549993933096	0.39071	0.08195	0.14155	N	AEFDBCI	0.050982	0.08964	N	-0.724688513207624	0.15329	0.7715872	-0.675349979236421	0.17578	0.9352882	0.999967042296326	0.48965	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.07	0.71	0.17313	0.936000	0.28536	4.083000	0.41752	0.676000	0.76740	0.035000	0.20724	0.791000	0.26863	0.280000	0.24017	0.2095:0.1149:0.3686:0.307	1.341	0.02024	420	0.81451	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	531.44	55	chr11	111354295	.	G	A	531.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.516;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.66;ReadPosRankSum=0.626;SOR=0.796	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1200	6	0	1	0
chr11	111495236	111495236	G	C	exonic	BTG4	.	nonsynonymous SNV	BTG4:NM_001367974:exon5:c.C589G:p.L197V,BTG4:NM_001367975:exon5:c.C589G:p.L197V,BTG4:NM_017589:exon5:c.C589G:p.L197V	.	.	.	.	.	.	.	.	.	.	.	2363305	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.00218107779796	.	0.000199681	0.0002	0	8.651e-05	0	0	0	0	0.0011	0.0001294	20	154602	rs533540949	7.874e-05	8.003e-05	5.722e-05	0.0001	0.0013	6.673e-05	6.207e-05	0.0011	0.0010	0	0	0	0	0	0	8.997e-07	6.627e-05	0.0013	5.255e-05	5.906e-05	1.285e-05	9.407e-05	0.0017	2.557e-05	1.83e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.343	0.12592	T	0.11	0.37310	T	0.003	0.11197	B	0.005	0.11217	B	0.039138	0.24205	N	0.381467	0.996996	0.22829	N	1.795	0.47270	L	.	.	.	-0.13	0.08971	N	0.112	0.09914	-0.8032	0.54956	T	0.209	0.56812	T	9	0.013045937	0.00278	T	0.002181	0.04098	T	0.074	0.21613	0.312	0.28612	0.230578612272	0.22657	0.47760584671852635	0.47680	0.175110475986	0.19712	0.262312561274	0.05169	T	0.071342	0.34184	T	-0.487133	0.00674	T	-0.513043	0.21001	T	0.04257882489028	0.04161	T	0.616038	0.23564	T	0.08815869	0.20557	0.075014435	0.16470	0.08815869	0.20556	0.075014435	0.16470	-3.587	0.17669	T	.	.	0.073	0.04806	B	.	.	0.594163	0.09625	6.399	0.95818524909112812	0.27904	0.39239	0.26168	N	AEFBI	0.065448	0.12765	N	-0.457264818534474	0.23495	1.262088	-0.407844878559921	0.24766	1.358102	0.00243467355576743	0.09427	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.88	3.86	0.43689	0.152000	0.16120	1.188000	0.24745	0.672000	0.70159	0.020000	0.19661	0.717000	0.26328	0.054000	0.15518	0.0:0.284:0.7159:0.0	14.215	0.65329	165	0.93588	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	217.27	33	chr11	111495236	.	G	C	217.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.43;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.04;ReadPosRankSum=0.488;SOR=0.836	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1166	5	0	1	1
chr11	111534431	111534431	C	T	exonic	HOATZ	.	nonsynonymous SNV	HOATZ:NM_001100388:exon5:c.C419T:p.P140L,HOATZ:NM_207430:exon6:c.C500T:p.P167L	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	0.0053	0.00479233	0.0014	0.0157	0.0008	0.0002	0	7.505e-05	0	6.064e-05	0.0013519	209	154602	rs61753535	0.0005	0.0005	0.0006	0.0005	0.0187	0.0005	0.0005	0.0175	0.0170	0.0187	0.0008	0	2.522e-05	0	0.0014	2.975e-05	0.0011	8.134e-05	0.0046	0.0046	0.0048	0.0044	0.0155	0.0043	0.0042	0.0145	0.0141	0.0155	0	0.0022	0	0	0	0	7.352e-05	0.0066	0	0.008	0.59928	D	0.411	0.14500	T	0.319	0.32965	B	0.039	0.23607	B	0.020922	0.26936	N	0.343850	0.998701	0.45307	D	1.67	0.42885	L	.	.	.	-2.98	0.65972	D	0.102	0.11626	-1.0274	0.21299	T	0.052	0.22230	T	9	0.0036886334	0.00068	T	.	.	.	0.055	0.15663	.	.	0.132336055621	0.12781	0.012503479596133016	0.01209	0.710522721883	0.61686	.	.	.	0.059276	0.31070	T	-0.582491	0.00186	T	-0.593889	0.13331	T	0.030375863000089	0.02047	T	0.779622	0.41374	T	0.09022553	0.21106	0.093906626	0.22202	0.09022553	0.21106	0.093906626	0.22202	-4.408	0.29665	T	.	.	0.223	0.58487	B	.;.;.	.;.;.	1.870125	0.23756	16.14	0.88762795623412039	0.18236	0.08216	0.14173	N	AEFBI	0.061776	0.11833	N	-0.375901247250173	0.26330	1.436204	-0.374658510469129	0.25755	1.418304	0.993573924682345	0.33269	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.13	2.19	0.26890	-0.005000	0.12791	1.897000	0.29556	0.599000	0.40250	0.005000	0.17040	0.978000	0.30204	0.901000	0.43729	0.1709:0.5236:0.2102:0.0954	3.144	0.06077	132	0.94697	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.010101	0.006793	0.008772	0.000000	0.000000	0.000000	0.000000	0.07143	1272.63	35	chr11	111534431	.	C	T	1272.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.04;DP=278;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-0.864;SOR=0.72	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1013	6	0	1	0
chr11	111737492	111737492	T	A	exonic	PPP2R1B	.	nonsynonymous SNV	PPP2R1B:NM_181700:exon13:c.A1675T:p.N559Y,PPP2R1B:NM_181699:exon15:c.A1867T:p.N623Y	Lung cancer, Autosomal recessive	0	1483	38	1	0	40	0.0133067	.	.	.	2809843	PPP2R1B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.094	.	0.0076	0.00199681	0.0057	0.0026	0.0044	0	0.0029	0.0086	0.0077	0.0007	0.0060995	943	154602	rs61756429	0.0073	0.0074	0.0074	0.0073	0.0163	0.0072	0.0072	0.0136	0.0126	0.0021	0.0050	0.0020	0	0.0036	0.0163	0.0087	0.0069	0.0009	0.0064	0.0064	0.0066	0.0062	0.0103	0.0061	0.0059	0.0096	0.0094	0.0025	0.0252	0.0058	0.0009	0	0.0031	0.0204	0.0103	0.0071	0.0010	0.003	0.72154	D	0.008	0.67890	D	0.965	0.56013	D	0.66	0.52803	P	0.243438	0.15662	N	0.617749	0.828419	0.35492	D	.	.	.	.	.	.	-0.6	0.17834	N	0.412	0.50327	-1.0335	0.19332	T	0.069	0.28180	T	9	0.0037582517	0.00070	T	.	.	.	0.094	0.27141	.	.	0.473616572423	0.46988	0.22862141231157473	0.22777	0.340094388157	0.35952	0.491730928421	0.37679	T	.	.	.	-0.359734	0.04145	T	-0.280114	0.46792	T	0.0228719775258281	0.01009	T	0.693531	0.30321	T	.	.	.	.	.	.	.	.	-4.111	0.26679	T	.	.	0.078	0.06942	B	.;.	.;.	2.370131	0.30412	18.43	0.98138998197519878	0.38588	0.76163	0.37334	D	AEFDGBHCI	0.205005	0.33140	N	0.0101333165650002	0.42315	2.54729	0.0417641372417915	0.41674	2.507797	0.999999981257004	0.74766	0.729952	0.87565	0	0.577304	0.33150	0	0.489635	0.07774	0	0.692231	0.68500	0	.	.	5.25	4.13	0.47661	1.859000	0.39058	1.581000	0.27475	0.644000	0.52426	1.000000	0.71638	0.991000	0.31484	0.723000	0.34869	0.0:0.0914:0.0:0.9086	7.918	0.28989	100	0.95872	.;.	C11orf52	Brain_Cerebellum	PPP2R1B|PPP2R1B	Adipose_Subcutaneous|Adipose_Subcutaneous	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.020202	0.017663	0.023392	0.050000	0.000000	0.009146	0.003788	0.07143	924.44	34	chr11	111737492	.	T	A	924.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.644;DP=282;ExcessHet=0;FS=1.618;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=1.36;SOR=0.533	GT:AD:DP:GQ:PL	0/1:62,41:103:99:935,0,1565	6	0	1	0
chr11	111882521	111882521	C	T	exonic	C11orf1	.	nonsynonymous SNV	C11orf1:NM_001330371:exon2:c.C199T:p.R67C,C11orf1:NM_022761:exon2:c.C199T:p.R67C	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	.	.	0.00399361	0.0021	9.626e-05	0.0003	0	0	0	0	0.0152	0.0018111	280	154602	rs201320359	0.0010	0.0010	0.0005	0.0014	0.0155	0.0009	0.0009	0.0148	0.0145	2.987e-05	4.474e-05	0	2.519e-05	0	0.0007	8.094e-06	0.0008	0.0155	0.0006	0.0006	0.0003	0.0008	0.0164	0.0005	0.0004	0.0135	0.0124	2.407e-05	0	6.537e-05	0	0.0002	0	0	2.941e-05	0	0.0164	0.06	0.45756	T	0.047	0.61642	D	0.996	0.90584	D	0.745	0.66095	P	0.460203	0.12401	N	0.757948	0.77061	0.34146	D	2.39	0.68882	M	1.42	0.33189	T	-4.79	0.80595	D	0.135	0.19728	-0.8036	0.54932	T	0.155	0.48568	T	10	0.007807523	0.00177	T	.	.	.	0.147	0.38986	0.515	0.61459	0.488687234069	0.48499	0.28955286910827294	0.28868	0.15491243362	0.17493	.	.	.	0.039347	0.25157	T	-0.448199	0.01157	T	-0.403609	0.32965	T	0.22536727335215	0.21729	T	0.168783	0.01571	T	0.10813217	0.25568	0.12820096	0.30848	0.10813217	0.25568	0.12820096	0.30847	-5.339	0.40327	T	.	.	0.069	0.11510	B	.;.;.;.;.	.;.;.;.;.	2.555685	0.33087	19.24	0.99931167971893431	0.99387	0.20278	0.20981	N	AEFBI	0.219143	0.34406	N	0.283919899427849	0.55332	3.697422	0.218439399026771	0.50870	3.274681	0.999364741650157	0.39301	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.41	4.46	0.53567	0.244000	0.17899	-0.085000	0.12129	-0.962000	0.01975	0.000000	0.06391	0.000000	0.08366	0.617000	0.31819	0.261:0.739:0.0:0.0	12.329	0.54353	87	0.96348	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.1429	3269.24	33	chr11	111882521	.	C	T	3269.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.5;DP=407;ExcessHet=0.3476;FS=0.458;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.749;SOR=0.734	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1337	5	0	2	0
chr11	111926149	111926149	T	C	exonic	C11orf52	.	nonsynonymous SNV	C11orf52:NM_080659:exon4:c.T322C:p.F108L	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.0377522800692	.	0.00199681	0.0010	0	8.642e-05	0.0001	0	1.5e-05	0	0.0073	0.0008991	139	154602	rs587635751	0.0004	0.0004	0.0003	0.0006	0.0066	0.0004	0.0004	0.0062	0.0060	8.961e-05	2.236e-05	0	0	0	0.0005	1.799e-06	0.0006	0.0066	0.0002	0.0002	8.991e-05	0.0003	0.0060	0.0001	0.0001	0.0043	0.0037	2.404e-05	0	0	0	0.0002	0	0	0	0	0.0060	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.996	0.84481	D	0.000020	0.62929	D	0.000000	0.965765	0.38488	D	1.625	0.41611	L	0.38	0.57575	T	-6.0	0.89534	D	0.823	0.81857	-0.5944	0.65044	T	0.234	0.60002	T	10	0.011179507	0.00245	T	0.037752	0.57812	D	0.295	0.61502	0.318	0.29581	0.430579932962	0.42676	0.7528489722663209	0.75231	1.5983681062	0.88651	.	.	.	0.184312	0.53693	T	-0.0614917	0.42673	T	0.142481	0.79707	D	0.116232526030901	0.14057	T	0.709529	0.32034	T	0.88043845	0.89703	0.79103416	0.87710	0.88043845	0.89704	0.79103416	0.87711	-3.919	0.22587	T	.	.	0.975	0.90290	P	.	.	4.055927	0.60153	24.2	0.99755014917074081	0.84615	0.78230	0.38565	D	AEFBCI	0.598824	0.59207	D	0.516494247378367	0.68063	5.166126	0.516446391015151	0.69096	5.311839	0.999999140363464	0.74766	0.538715	0.22204	0	0.475579	0.06741	0	0.78367	0.99111	0	0.656636	0.63459	0	.	.	5.07	5.07	0.68106	4.426000	0.59629	7.627000	0.62562	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:0.0:1.0	12.316	0.54280	90	0.96275	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	772.49	36	chr11	111926149	.	T	C	772.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.48;DP=228;ExcessHet=0;FS=4.127;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=0.584;SOR=0.289	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr11	113231236	113231236	G	A	exonic	NCAM1	.	nonsynonymous SNV	NCAM1:NM_001242607:exon10:c.G1130A:p.G377E	.	412	1087	23	0	0	23	0.0104688	.	.	.	2809854	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0052	0.0018	0	0	0	0.0143	0.0152	0.0012	0.0014748	228	154602	rs117219783	0.0071	0.0067	0.0071	0.0071	0.0151	0.0070	0.0069	0.0125	0.0116	0.0011	0.0027	0.0191	0	0.0022	0.0151	0.0079	0.0070	0.0018	0.0052	0.0052	0.0059	0.0045	0.0085	0.0049	0.0048	0.0079	0.0077	0.0014	0	0.0027	0.0228	0	0.0018	0.0170	0.0085	0.0052	0.0010	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.222	0.27554	.	.	.	.	.	.	.	0.0048000515	0.00102	T	.	.	.	.	.	.	.	0.72745045299	0.72503	0.22365881347720465	0.22280	.	.	0.300282180309	0.10442	T	0.249375	0.61932	T	-0.414135	0.01866	T	-0.36083	0.37956	T	.	.	.	0.443356	0.12326	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24532	B	.;.	.;.	1.011621	0.13907	10.47	0.30373334228533333	0.01658	0.07756	0.13755	N	AEFBI	.	.	.	.	.	.	.	.	.	0.90115533656069	0.26094	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0841549	0.19180	4.73	2.71	0.31092	2.415000	0.44289	2.579000	0.33405	0.676000	0.76740	0.042000	0.21073	0.089000	0.22506	0.004000	0.06068	0.1047:0.0:0.6904:0.205	5.143	0.14300	645	0.63593	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012632	0.017045	0.016667	0.016854	0.142857	0.000000	0.015464	0.000000	0.07143	502.53	34	chr11	113231236	.	G	A	502.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.058;DP=199;ExcessHet=0;FS=2.958;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=-1.971;SOR=1.057	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1049	6	0	1	0
chr11	113340695	113340695	T	A	exonic	TTC12	.	nonsynonymous SNV	TTC12:NM_001352037:exon10:c.T783A:p.N261K,TTC12:NM_001318533:exon11:c.T876A:p.N292K,TTC12:NM_001378063:exon11:c.T861A:p.N287K,TTC12:NM_001378064:exon11:c.T858A:p.N286K,TTC12:NM_001378065:exon11:c.T858A:p.N286K,TTC12:NM_017868:exon11:c.T858A:p.N286K	.	429	1090	2	1	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0183065227825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.45393	D	0.016	0.60972	D	0.905	0.49920	P	0.372	0.43610	B	0.310064	0.14449	N	0.698695	0.994039	0.23600	N	2.515	0.73286	M	2.43	0.52187	T	-1.66	0.39692	N	0.311	0.35088	-0.9598	0.39218	T	0.125	0.42903	T	10	0.22196582	0.38936	T	0.018307	0.40331	T	0.091	0.26358	0.541	0.65304	0.594169782683	0.59095	0.6274882021482098	0.62681	0.0875180679987	0.09869	0.310230106115	0.11941	T	0.050454	0.28601	T	-0.21742	0.18347	T	-0.550085	0.17319	T	0.835453748703003	0.48960	D	0.848915	0.57175	T	0.05115672	0.09354	0.061168607	0.11769	0.05115672	0.09353	0.061168607	0.11768	-7.406	0.57891	T	0.16954393745866886	0.21265	0.189	0.46436	B	.;.;.;.;.	.;.;.;.;.	2.113149	0.26894	17.28	0.98057803590654202	0.37921	0.88561	0.48546	D	AEFDBI	0.277115	0.39170	N	0.0951292334900809	0.46235	2.867055	0.0544864072932453	0.42288	2.555294	0.615519582487752	0.21840	0.732398	0.92422	0	0.743671	0.97443	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.22	2.8	0.31881	2.244000	0.42775	-1.758000	0.04780	0.665000	0.62972	1.000000	0.71638	0.000000	0.08366	0.968000	0.53726	0.1565:0.0859:0.0:0.7577	5.270	0.14930	791	0.46100	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1451.44	40	chr11	113340695	.	T	A	1451.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.02;DP=321;ExcessHet=0;FS=2.303;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-1.144;SOR=0.943	GT:AD:DP:GQ:PL	0/1:62,61:123:99:1462,0,1582	6	0	1	0
chr11	113412766	113412766	G	A	exonic	DRD2	.	nonsynonymous SNV	DRD2:NM_016574:exon6:c.C841T:p.P281S,DRD2:NM_000795:exon7:c.C928T:p.P310S	.	1	1487	30	4	0	38	0.0126162	.	.	.	253994	DRD2-associated_Dystonia|not_specified|Dystonic_disorder|not_provided	.|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.053	0.0120403957927	0.0006	0.000798722	0.0014	0	0.0010	0	0	0.0021	0	0.0010	0.001216	188	154602	rs1800496	0.0011	0.0011	0.0010	0.0011	0.0274	0.0010	0.0010	0.0239	0.0226	0.0008	0.0011	0.0168	0	7.489e-05	0.0274	0.0006	0.0024	0.0012	0.0012	0.0012	0.0012	0.0011	0.0012	0.0010	0.0010	0.0010	0.0009	9.627e-05	0	0.0011	0.0150	0	0	0.0308	0.0012	0.0038	0.0010	0.446	0.09236	T	0.87	0.12072	T	0.0	0.02946	B	0.001	0.06944	B	0.007316	0.31472	N	0.382752	0.856594	0.28418	N	1.18	0.29980	L	-0.52	0.70950	T	-0.3	0.11913	N	0.095	0.07535	-0.9782	0.35413	T	0.131	0.44228	T	10	0.003302753	0.00057	T	0.01204	0.30251	T	0.053	0.14996	.	.	0.635011714626	0.63201	0.2832165131889466	0.28234	0.819110548624	0.67075	0.288126349449	0.08650	T	0.080947	0.36483	T	-0.399698	0.02326	T	-0.392466	0.34263	T	0.00755147470409422	0.00087	T	0.427357	0.25136	T	0.031609956	0.03031	0.044623986	0.05823	0.031609956	0.03031	0.044623986	0.05823	-3.059	0.10831	T	.	.	0.064	0.02145	B	.;.;.;.;.	.;.;.;.;.	1.639653	0.20925	14.97	0.87683899775081209	0.17406	0.93619	0.58715	D	AEFDBI	0.380806	0.46331	N	-0.740278025076547	0.14899	0.7461527	-0.597916278238898	0.19546	1.049245	0.11352656309492	0.16710	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.73	1.56	0.22423	0.409000	0.20803	4.908000	0.45924	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.896000	0.43308	0.0684:0.4643:0.3579:0.1094	7.779	0.28218	860	0.33753	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021652	0.005051	0.027174	0.061404	0.000000	0.025862	0.003049	0.003788	0.07143	862.45	42	chr11	113412766	.	G	A	862.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.636;DP=335;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.59;ReadPosRankSum=-0.51;SOR=0.57	GT:AD:DP:GQ:PL	0/0:119,0:119:99:0,120,1800	6	0	1	0
chr11	113933064	113933064	G	A	exonic	HTR3B	.	nonsynonymous SNV	HTR3B:NM_001363563:exon5:c.G634A:p.A212T,HTR3B:NM_006028:exon6:c.G667A:p.A223T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.0432463927516	0.0009	0.000599042	0.0002	0.0028	0	0	0	1.501e-05	0	0	0.0002135	33	154602	rs145224778	0.0001	0.0001	0.0001	0.0001	0.0038	0.0001	0.0001	0.0033	0.0031	0.0038	4.473e-05	0	5.038e-05	0	0.0002	3.148e-05	0.0004	1.16e-05	0.0008	0.0009	0.0008	0.0008	0.0029	0.0007	0.0007	0.0025	0.0024	0.0029	0	0.0001	0	0	0	0	4.41e-05	0.0005	0	0.394	0.10838	T	0.607	0.07791	T	0.008	0.14655	B	0.005	0.11217	B	0.210996	0.16366	N	0.633406	0.999999	0.08975	N	0.6	0.15550	N	-1.21	0.78645	T	0.12	0.05604	N	0.047	0.01911	-0.9665	0.37914	T	0.188	0.53916	T	10	0.0064712465	0.00146	T	0.043246	0.60884	D	0.124	0.34239	.	.	0.191931220699	0.18833	0.3169799636681552	0.31610	0.0953457349355	0.10770	0.29579731822	0.09776	T	0.016483	0.13616	T	-0.442258	0.01254	T	-0.410785	0.32135	T	0.00870599646352842	0.00107	T	0.545645	0.18668	T	0.07682748	0.17401	0.081509314	0.18531	0.07682748	0.17401	0.081509314	0.18530	-4.326	0.28540	T	.	.	0.065	0.02399	B	.;.	.;.	0.480391	0.08498	5.260	0.73831711188673943	0.10471	0.01903	0.05831	N	AEFDGBI	0.054532	0.09924	N	-1.48378692525894	0.01964	0.08624894	-1.51073738597425	0.02261	0.1037237	0.913987386296044	0.26440	0.446893	0.09132	0	0.563428	0.19063	0	0.607795	0.38427	0	0.530356	0.10902	0	.	.	6.17	-5.04	0.02742	0.100000	0.15067	-0.454000	0.09081	-0.749000	0.03603	0.000000	0.06391	0.000000	0.08366	0.234000	0.22842	0.5507:0.0:0.3485:0.1007	8.533	0.32507	865	0.32612	Neurotransmitter-gated ion-channel ligand-binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1170.44	34	chr11	113933064	.	G	A	1170.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.84;DP=301;ExcessHet=0;FS=0.684;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=1.09;SOR=0.6	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1118	6	0	1	0
chr11	113944725	113944725	G	A	exonic	HTR3B	.	nonsynonymous SNV	HTR3B:NM_001363563:exon7:c.G1027A:p.E343K,HTR3B:NM_006028:exon8:c.G1060A:p.E354K	.	.	.	.	.	.	.	.	.	.	.	712608	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.013	.	0.0071	0.0071885	0.0020	0.0223	0.0005	0	0	1.5e-05	0.0011	6.069e-05	0.0018758	290	154602	rs140529422	0.0007	0.0007	0.0007	0.0006	0.0246	0.0006	0.0006	0.0232	0.0227	0.0246	0.0008	0	0	0	0.0003	8.993e-06	0.0015	2.319e-05	0.0064	0.0065	0.0067	0.0062	0.0227	0.0061	0.0060	0.0215	0.0210	0.0227	0	0.0016	0	0	0	0	7.351e-05	0.0043	0	0.92	0.02315	T	0.725	0.05939	T	0.0	0.02946	B	0.0	0.04355	B	0.696940	0.10126	N	0.878442	1	0.08975	N	-0.69	0.01958	N	2.0	0.21473	T	-0.58	0.17417	N	0.112	0.09914	-0.9622	0.38761	T	0.007	0.02598	T	10	0.0041660964	0.00082	T	.	.	.	0.013	0.01715	.	.	0.0846915920261	0.08053	0.21286890501244446	0.21202	0.109142225108	0.12311	0.306764304638	0.11418	T	0.001597	0.01030	T	-0.701476	0.00036	T	-0.762812	0.03012	T	0.00373547669934692	0.00040	T	0.529047	0.17505	T	0.046249688	0.07707	0.04619954	0.06384	0.046249688	0.07707	0.04619954	0.06384	-3.938	0.22873	T	.	.	0.082	0.08754	B	.;.	.;.	0.722850	0.10919	7.589	0.28453417458393093	0.01462	0.08012	0.13991	N	AEFBI	.	.	.	-1.36749197772027	0.02948	0.1309384	-1.29567073180183	0.04489	0.2118485	3.38785298582644E-4	0.06583	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	1.04	0.19220	0.316000	0.19217	2.537000	0.33196	-0.119000	0.14319	0.002000	0.15269	0.999000	0.35428	0.043000	0.14563	0.2975:0.0:0.5103:0.1922	3.272	0.06480	903	0.23940	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.000000	0.006793	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	1523.53	38	chr11	113944725	.	G	A	1523.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.538;DP=293;ExcessHet=0;FS=0.732;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-1.076;SOR=0.804	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr11	113986146	113986146	A	C	exonic	HTR3A	.	nonsynonymous SNV	HTR3A:NM_000869:exon6:c.A676C:p.S226R,HTR3A:NM_001161772:exon6:c.A631C:p.S211R,HTR3A:NM_213621:exon6:c.A676C:p.S226R	.	423	1096	3	0	0	3	0.00136674	.	.	.	4157848	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.283	0.0243046991873	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1320582235	1.094e-05	1.094e-05	5.445e-06	1.65e-05	1.439e-05	6.48e-06	5.24e-06	8.52e-06	6.89e-06	0	0	0	0	0	0	1.439e-05	0	0	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.312	0.27310	T	0.545	0.09588	T	.	.	.	.	.	.	0.000160	0.49130	N	0.249058	0.975494	0.81001	D	1.99	0.53851	M	-1.19	0.78427	T	-1.86	0.43524	N	0.287	0.36043	-0.7536	0.57747	T	0.268	0.63918	T	10	0.21344844	0.37836	T	0.024305	0.47297	T	0.283	0.60100	0.506	0.60078	0.720123150956	0.71765	0.5713069948344575	0.57058	0.104774389895	0.11852	0.40300437808	0.25487	T	0.424388	0.77484	T	-0.0802723	0.39672	T	-0.353082	0.38852	T	0.234493732452393	0.22164	T	0.70393	0.31399	T	0.12413864	0.29134	0.11178295	0.26967	0.12413864	0.29134	0.11178295	0.26966	-5.821	0.45876	T	.	.	0.178	0.52360	B	.;.;.;.;.	.;.;.;.;.	1.652888	0.21087	15.04	0.87318101782771895	0.17141	0.97459	0.74885	D	AEFDBI	0.714793	0.66716	D	-0.42725602463249	0.24518	1.324391	-0.336399950903092	0.26932	1.491049	0.126204337218317	0.16994	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.19	5.19	0.71428	4.808000	0.62274	6.094000	0.53477	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.028000	0.12845	0.9228:0.0:0.0772:0.0	9.824	0.40067	933	0.16026	Neurotransmitter-gated ion-channel ligand-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1249.49	33	chr11	113986146	.	A	C	1249.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.234;DP=279;ExcessHet=0;FS=1.586;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.981;SOR=0.877	GT:AD:DP:GQ:PL	0/1:45,59:104:99:1260,0,926	6	0	1	0
chr11	114063505	114063505	C	A	exonic	ZBTB16	.	nonsynonymous SNV	ZBTB16:NM_001354752:exon1:c.C205A:p.H69N,ZBTB16:NM_001018011:exon2:c.C205A:p.H69N,ZBTB16:NM_001354750:exon2:c.C205A:p.H69N,ZBTB16:NM_001354751:exon2:c.C205A:p.H69N,ZBTB16:NM_006006:exon2:c.C205A:p.H69N	Leukemia, acute promyelocytic, PL2F/RARA type (3);Skeletal defects, genital hypoplasia, and mental retardation, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0332551066821	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1435197148	7.525e-06	7.524e-06	4.084e-06	1.1e-05	8.993e-06	4.04e-06	2.95e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.993e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.004	0.74150	D	0.295	0.32424	B	0.068	0.27651	B	0.000000	0.84330	D	0.046324	1	0.81001	D	1.06	0.26948	L	-0.2	0.66113	T	-0.42	0.14193	N	0.797	0.79310	-0.8997	0.48024	T	0.164	0.50160	T	10	0.3750264	0.53765	T	0.033255	0.54854	D	0.151	0.39764	0.513	0.61153	0.606841231823	0.60368	0.5862602588354062	0.58556	0.749165256584	0.63679	0.924250006676	0.98629	D	0.406997	0.76273	T	-0.0318223	0.47151	T	-0.283487	0.46446	T	0.71563732624054	0.41479	D	0.855414	0.54290	D	0.3395394	0.56243	0.16136487	0.37538	0.3395394	0.56243	0.16136487	0.37537	-7.756	0.59396	D	.	.	0.2	0.42361	B	.;.;.;.	.;.;.;.	4.962384	0.82058	27.7	0.94498198059058192	0.24969	0.96031	0.67221	D	AEFDBHCI	0.892396	0.82928	D	0.124016860940013	0.47584	2.982155	0.316276367672486	0.56495	3.81298	0.999999999991681	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.491896	0.07777	0	.	.	5.32	5.32	0.75377	6.106000	0.71175	7.658000	0.64072	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	19.370	0.94470	919	0.19497	BTB/POZ domain|BTB/POZ domain|BTB/POZ domain;BTB/POZ domain|BTB/POZ domain|BTB/POZ domain;BTB/POZ domain|BTB/POZ domain|BTB/POZ domain;BTB/POZ domain|BTB/POZ domain|BTB/POZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1650.45	153	chr11	114063505	.	C	A	1650.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.096;DP=337;ExcessHet=0;FS=1.265;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=-1.647;SOR=0.577	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1126	6	0	1	0
chr11	114530269	114530269	G	C	exonic	NXPE1	.	nonsynonymous SNV	NXPE1:NM_152315:exon3:c.C313G:p.P105A,NXPE1:NM_001367953:exon5:c.C739G:p.P247A	.	431	1028	61	2	0	65	0.0306459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	.	0.0036	0.00559105	0.0069	0.0011	0.0036	0.0002	0.0003	0.0060	0.0165	0.0222	0.0063065	975	154602	rs45609739	0.0056	0.0056	0.0050	0.0063	0.0227	0.0055	0.0055	0.0207	0.0204	0.0010	0.0036	0.0022	5.038e-05	0.0006	0.0227	0.0050	0.0068	0.0215	0.0042	0.0042	0.0039	0.0045	0.0189	0.0039	0.0038	0.0157	0.0146	0.0010	0.0340	0.0051	0.0020	0	0.0005	0.0204	0.0053	0.0085	0.0189	0.011	0.57480	D	0.037	0.56640	D	1.0	0.90584	D	0.998	0.88582	D	0.000032	0.55875	D	0.000000	1	0.08975	N	3.145	0.88303	M	1.81	0.64818	T	-5.65	0.93697	D	0.587	0.63035	-0.3800	0.72651	T	0.419	0.76503	T	10	0.005137056	0.00112	T	.	.	.	0.300	0.62068	.	.	0.389439708392	0.38560	0.4717352409557836	0.47092	0.16594407476	0.18725	0.33301743865	0.15389	T	0.236518	0.60401	T	-0.316631	0.07178	T	-0.210675	0.53631	T	0.0314134618907065	0.02212	T	0.90111	0.65631	D	0.39157385	0.60144	0.577302	0.75507	0.39157385	0.60144	0.577302	0.75508	-9.493	0.70815	D	.	.	0.423	0.61041	A	.;.;.;.	.;.;.;.	4.447330	0.69097	25.3	0.99347243344324987	0.60412	0.86495	0.45787	D	AEFBI	0.408249	0.48000	N	0.630376840640656	0.75105	6.247449	0.475806938901561	0.66391	4.945904	0.0134415062130334	0.12466	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.29	4.29	0.50359	3.630000	0.54014	3.198000	0.36737	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	15.055	0.71574	889	0.27310	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026183	0.005051	0.025815	0.008772	0.100000	0.017241	0.039634	0.053030	0.2143	1728.13	33	chr11	114530269	.	G	C	1728.13	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.908;DP=290;ExcessHet=0;FS=0.701;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=1.36;SOR=0.569	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1313	5	1	1	0
chr11	116820959	116820959	T	C	exonic	APOA4	.	nonsynonymous SNV	APOA4:NM_000482:exon3:c.A1099G:p.T367A	.	1	941	461	91	28	671	0.254653	.	.	.	1665716	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.0120121571706	.	0.000399361	0.0014	0.0002	0.0008	0.0001	0	0.0018	0.0044	0.0017	0.0012936	200	154602	rs675	0.0013	0.0013	0.0012	0.0014	0.0232	0.0012	0.0012	0.0200	0.0188	0.0010	0.0007	0.0024	0	7.49e-05	0.0232	0.0012	0.0016	0.0024	0.0009	0.0009	0.0010	0.0009	0.0017	0.0008	0.0008	0.0009	0.0009	0.0002	0.0242	0.0006	0.0032	0	0	0.0136	0.0011	0.0014	0.0017	0.414	0.10020	T	0.339	0.18071	T	.	.	.	.	.	.	0.407012	0.13048	N	0.640140	1	0.08975	N	.	.	.	-0.72	0.72994	T	0.21	0.04776	N	0.037	0.01135	-1.0196	0.23845	T	0.163	0.49881	T	10	0.00393337	0.00075	T	0.012012	0.30193	T	0.053	0.14996	.	.	0.202949470691	0.19918	0.06988835794818526	0.06926	0.0511132485683	0.05625	0.253537476063	0.04150	T	.	.	.	-0.580172	0.00192	T	-0.612629	0.11772	T	0.00288888462819159	0.00030	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.03162	B	.	.	0.562637	0.09313	6.093	0.56217289249236624	0.05505	0.01906	0.05837	N	AEFDBI	0.101439	0.20374	N	-1.04106067913846	0.07763	0.3617752	-1.0807239329008	0.08080	0.3957362	0.998166737742862	0.36515	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.7	0.012	0.13411	-0.211000	0.09336	0.239000	0.16284	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.176000	0.21171	0.0992:0.2603:0.282:0.3586	2.065	0.03382	492	0.76569	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	17150.0	104	chr11	116820959	.	T	C	17150.0	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.343;DP=850;ExcessHet=0.0509;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.82;ReadPosRankSum=2.37;SOR=0.736	GT:AD:DP:GQ:PL	0/0:0,0:213:99:6529,6529,6529	6	0	1	0
chr11	117428363	117428363	C	T	exonic	DSCAML1	.	nonsynonymous SNV	DSCAML1:NM_020693:exon33:c.G6127A:p.A2043T	.	427	1089	6	0	0	6	0.00274725	.	.	.	1605921	not_provided|DSCAML1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.037	0.0372581878692	0.0015	0.000599042	0.0016	0.0002	0.0010	0	0.0005	0.0026	0.0023	6.128e-05	0.0014618	226	154602	rs143875346	0.0025	0.0025	0.0025	0.0024	0.0030	0.0024	0.0024	0.0029	0.0028	0.0002	0.0012	0.0016	0	0.0005	0.0020	0.0030	0.0029	9.551e-05	0.0019	0.0019	0.0022	0.0016	0.0032	0.0017	0.0017	0.0029	0.0028	0.0008	0	0.0012	0.0029	0	0.0004	0.0068	0.0032	0.0028	0	0.305	0.17183	T	0.597	0.09522	T	.	.	.	.	.	.	.	.	.	.	0.999968	0.52935	D	.	.	.	-0.01	0.63568	T	-0.58	0.18248	N	0.145	0.40765	-0.9977	0.30563	T	0.134	0.44778	T	9	0.00686422	0.00156	T	0.037258	0.57503	D	0.037	0.09474	.	.	0.433847406099	0.43006	0.2411843965476237	0.24032	0.00910728076374	0.00827	0.637237906456	0.58172	T	.	.	.	-0.357314	0.04284	T	-0.290024	0.45770	T	0.0560602788444198	0.06534	T	0.752425	0.37456	T	.	.	.	.	.	.	.	.	-4.177	0.26417	T	.	.	0.096	0.15520	B	.;.	.;.	1.913234	0.24300	16.34	0.98931339092937598	0.48750	0.97684	0.76395	D	AEFDBI	0.510400	0.53947	D	-0.317372854446626	0.28488	1.571727	-0.203899116462117	0.31396	1.776402	0.999306784289065	0.39077	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.27	3.35	0.37468	3.780000	0.55092	0.549000	0.19403	-0.235000	0.07621	0.995000	0.38783	0.077000	0.22320	0.928000	0.46473	0.0:0.8463:0.1537:0.0	13.895	0.63271	848	0.35897	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.005051	0.004076	0.002924	0.000000	0.008621	0.012195	0.000000	0.07143	610.45	43	chr11	117428363	.	C	T	610.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.83;DP=213;ExcessHet=0;FS=1.186;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=1.55;SOR=0.922	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1000	6	0	1	0
chr11	117521351	117521351	G	A	exonic	DSCAML1	.	nonsynonymous SNV	DSCAML1:NM_001367904:exon6:c.C992T:p.T331M,DSCAML1:NM_001367905:exon6:c.C584T:p.T195M,DSCAML1:NM_020693:exon6:c.C992T:p.T331M	.	413	1108	1	0	0	1	0.00045106	.	.	.	1979323	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.444	0.13505435265	.	0.000199681	2.489e-05	0	8.667e-05	0	0	0	0	0.0001	2.59e-05	4	154602	rs575001357	1.779e-05	1.779e-05	1.906e-05	1.65e-05	0.0002	1.237e-05	1.051e-05	0.0001	0.0001	0	0.0002	0	5.038e-05	0	0.0002	6.295e-06	1.656e-05	4.637e-05	2.625e-05	2.624e-05	2.569e-05	2.684e-05	0.0004	8.13e-06	5.14e-06	7.285e-05	3.027e-05	0	0	6.532e-05	0	0	0	0	0	0.0005	0.0004	0.119	0.40832	T	0.047	0.49663	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.4	0.69287	T	-2.24	0.50175	N	0.717	0.71942	0.083	0.83853	D	0.513	0.81743	D	9	0.5451764	0.63943	D	0.135054	0.81750	D	0.444	0.74657	.	.	0.800742701777	0.79888	0.6113861446812974	0.61070	1.14625373596	0.79082	0.70240855217	0.67492	T	.	.	.	-0.0423197	0.45603	T	0.00315566	0.70540	D	0.352261543273926	0.27108	T	0.961604	0.85550	D	.	.	.	.	.	.	.	.	-7.195	0.55445	T	.	.	0.252	0.48644	B	.;.	.;.	5.417545	0.90655	31	0.99850583047632535	0.93013	0.99119	0.91505	D	AEFDBI	0.938397	0.93753	D	0.797128529342073	0.85928	8.724418	0.732013852820478	0.84808	8.396778	0.999999999952134	0.74766	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.5	4.5	0.54382	6.593000	0.73983	11.790000	0.96346	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	17.384	0.87302	892	0.26670	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1429	247.21	35	chr11	117521351	.	G	A	247.21	.	AC=2;AF=0.143;AN=14;DP=229;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=27.47;SOR=0.892	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1339	6	1	0	0
chr11	117993312	117993312	A	G	exonic	IL10RA	.	nonsynonymous SNV	IL10RA:NM_001558:exon4:c.A439G:p.R147G	Inflammatory bowel disease 28, early onset, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.0717440011537	.	.	8.237e-06	9.61e-05	0	0	0	0	0	0	3.84e-05	1	26028	rs761828743	2.053e-06	2.736e-06	2.723e-06	1.375e-06	2.519e-05	5.5e-07	1.5e-07	.	.	0	0	0	2.519e-05	0	0	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.0	0.92824	D	0.997	0.70673	D	0.882	0.62632	P	0.026095	0.25978	N	0.345700	1	0.81001	D	2.51	0.73131	M	0.57	0.54347	T	-3.73	0.70920	D	0.541	0.56833	-0.7218	0.59374	T	0.256	0.62597	T	10	0.8555155	0.84746	D	0.071744	0.71350	D	0.274	0.59007	0.748	0.87905	0.900672490495	0.89968	0.8418451913737248	0.84144	0.824285950999	0.67310	0.400044083595	0.25074	T	0.715106	0.91904	D	0.0854496	0.62672	D	-0.115034	0.62208	T	0.97086775302887	0.69105	D	0.80472	0.45238	T	0.43805784	0.63277	0.36247513	0.61652	0.43805784	0.63277	0.36247513	0.61652	-4.302	0.28205	T	0.6923835387828834	0.77030	0.427	0.61035	A	.	.	3.517023	0.49280	22.8	0.99741053185413631	0.83482	0.79830	0.39636	D	AEFBCI	0.609030	0.59838	D	0.291344117319321	0.55710	3.735001	0.221384121503162	0.51035	3.28967	0.997764421165448	0.36002	0.645754	0.44609	0	0.696144	0.67643	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.73	3.23	0.36150	2.610000	0.45990	3.191000	0.36704	0.756000	0.94297	1.000000	0.71638	0.980000	0.30356	0.176000	0.21171	0.6505:0.3495:0.0:0.0	9.433	0.37787	730	0.54327	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1089.53	33	chr11	117993312	.	A	G	1089.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.591;DP=270;ExcessHet=0;FS=1.681;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.653;SOR=0.51	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1152	6	0	1	0
chr11	118532154	118532154	G	C	exonic	TMEM25	.	nonsynonymous SNV	TMEM25:NM_001144034:exon3:c.G75C:p.W25C,TMEM25:NM_001144035:exon3:c.G75C:p.W25C,TMEM25:NM_001144037:exon3:c.G75C:p.W25C,TMEM25:NM_001144038:exon3:c.G75C:p.W25C,TMEM25:NM_001318755:exon3:c.G75C:p.W25C,TMEM25:NM_001318757:exon3:c.G75C:p.W25C,TMEM25:NM_032780:exon3:c.G75C:p.W25C	.	422	1078	22	0	0	22	0.010101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0092	0.00698882	0.0169	0.0281	0.0113	0.0003	0.0053	0.0198	0.0286	0.0084	0.0075484	1167	154602	rs35915434	0.0081	0.0081	0.0081	0.0081	0.0194	0.0080	0.0079	0.0165	0.0153	0.0160	0.0056	0.0157	5.118e-05	0.0036	0.0194	0.0085	0.0075	0.0041	0.0095	0.0095	0.0102	0.0087	0.0146	0.0091	0.0089	0.0136	0.0132	0.0146	0.0493	0.0062	0.0164	0	0.0024	0.0442	0.0085	0.0047	0.0031	0.021	0.53172	D	0.04	0.65728	D	0.0	0.65571	B	0.0	0.51908	B	0.001093	0.40303	N	0.176289	0.997138	0.81001	D	1.87	0.49600	L	2.3	0.30133	T	-2.12	0.91395	N	0.334	0.38848	-1.1085	0.03201	T	0.043	0.18326	T	10	0.006802678	0.00155	T	.	.	.	0.079	0.23065	0.252	0.19067	0.0986583533028	0.09354	0.6947654204807727	0.69417	0.22818053352	0.25372	0.571099042892	0.48834	T	0.078915	0.36005	T	-0.451457	0.01108	T	-0.40829	0.32422	T	0.00937457569547086	0.00120	T	0.765923	0.39354	T	0.2311183	0.45878	0.16963321	0.39011	0.2311183	0.45878	0.16963321	0.39010	-2.912	0.09559	T	.	.	0.277	0.55487	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.764781	0.22442	15.62	0.98477695238953178	0.41931	0.85246	0.44362	D	AEFDBI	0.251787	0.37159	N	-0.39224383228242	0.25744	1.399828	-0.315853451040397	0.27586	1.532	0.999955652262329	0.48110	0.72623	0.87236	0	0.627608	0.54475	0	0.594344	0.31042	0	0.669	0.65921	0	.	.	5.19	1.07	0.19399	0.929000	0.28445	1.009000	0.23318	-0.110000	0.15115	0.983000	0.35670	1.000000	0.68203	0.995000	0.73285	0.0828:0.0:0.4638:0.4534	6.757	0.22705	321	0.86949	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014646	0.015306	0.019074	0.017544	0.000000	0.008621	0.015337	0.003788	0.08333	284.27	19	chr11	118532154	.	G	C	284.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.94;DP=196;ExcessHet=0;FS=2.017;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=-1.757;SOR=1.371	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1190	5	0	1	1
chr11	118555075	118555075	G	A	exonic	IFT46	.	nonsynonymous SNV	IFT46:NM_001168618:exon6:c.C269T:p.P90L,IFT46:NM_020153:exon7:c.C422T:p.P141L	.	425	1083	14	0	0	14	0.00642202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.118571185948	0.0006	0.000798722	0.0009	0	0.0006	0	0.0005	0.0010	0.0011	0.0021	0.0008797	136	154602	rs143391860	0.0006	0.0006	0.0005	0.0007	0.0031	0.0006	0.0006	0.0020	0.0017	5.983e-05	0.0003	0.0019	0	0.0002	0.0031	0.0005	0.0007	0.0019	0.0004	0.0004	0.0004	0.0005	0.0008	0.0004	0.0003	0.0005	0.0005	4.813e-05	0.0011	0.0003	0.0017	0	9.422e-05	0	0.0007	0.0014	0.0008	0.002	0.78490	D	0.003	0.76473	D	0.993	0.77913	D	0.916	0.75168	D	0.000004	0.62929	D	0.106561	1	0.81001	D	3.165	0.88605	M	0.03	0.64630	T	-7.76	0.97138	D	0.872	0.86941	0.143	0.84933	D	0.518	0.81995	D	10	0.06347144	0.08273	T	0.118571	0.79865	D	0.507	0.78786	.	.	0.388425449554	0.38455	0.6012162632722131	0.60052	0.710200166085	0.61670	0.640157163143	0.58587	T	0.432962	0.81290	T	-0.139941	0.29899	T	0.0189441	0.71562	D	0.234996899962425	0.22188	T	0.988851	0.96210	D	0.6548184	0.75621	0.6909232	0.81812	0.6548184	0.75622	0.6909232	0.81813	-11.854	0.84132	D	.	.	0.638	0.78471	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.317055	0.89247	29.9	0.9986057309193106	0.93911	0.97808	0.77284	D	AEFBI	0.835436	0.75334	D	0.905357124738942	0.92021	11.18954	0.859972360870844	0.93585	12.14131	0.904853044677183	0.26189	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.45	5.45	0.79688	7.441000	0.79617	11.656000	0.93934	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.645	0.95770	325	0.86759	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.005051	0.005435	0.000000	0.000000	0.008621	0.003049	0.003788	0.08333	803.27	62	chr11	118555075	.	G	A	803.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.98;DP=233;ExcessHet=0;FS=4.921;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=1.18;SOR=1.074	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1288	5	0	1	1
chr11	118613842	118613842	C	A	exonic	PHLDB1	.	nonsynonymous SNV	PHLDB1:NM_001144758:exon2:c.C6A:p.D2E,PHLDB1:NM_001144759:exon2:c.C6A:p.D2E,PHLDB1:NM_015157:exon3:c.C6A:p.D2E	.	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0165573545967	.	.	8.834e-06	0	0	0	0	1.594e-05	0	0	6.5e-06	1	154602	rs201929347	1.781e-05	1.915e-05	1.091e-05	2.478e-05	7.205e-06	1.239e-05	1.053e-05	3.1e-06	2.24e-06	0	0	0.0005	0	0	0	7.205e-06	8.289e-05	0	3.945e-05	3.941e-05	2.571e-05	5.383e-05	1.47e-05	1.716e-05	1.13e-05	.	.	0	0	0	0.0014	0	0	0	1.47e-05	0	0	0.146	0.25055	T	0.378	0.22962	T	0.051	0.22415	B	0.013	0.16460	B	0.049633	0.23143	N	0.454468	0.999624	0.20843	N	1.245	0.31408	L	1.3	0.35590	T	-1.18	0.30140	N	0.208	0.23125	-0.9823	0.34468	T	0.040	0.17149	T	10	0.033192277	0.01488	T	0.016557	0.37875	T	0.015	0.02232	0.229	0.15556	0.161926535498	0.15789	0.39848362457372793	0.39763	0.236559005036	0.26193	0.467112183571	0.34284	T	0.019125	0.15291	T	-0.216115	0.18527	T	-0.532725	0.19015	T	0.0620052814483643	0.07481	T	0.567243	0.20104	T	0.07513612	0.16907	0.051396582	0.08264	0.07513612	0.16907	0.051396582	0.08264	-2.244	0.04259	T	.	.	0.126	0.27069	B	.;.;.;.;.	.;.;.;.;.	0.988111	0.13658	10.20	0.95779560939661779	0.27799	0.06155	0.12136	N	AEFBI	0.094473	0.19100	N	-1.12505183450548	0.06201	0.2847868	-1.16456779457591	0.06510	0.313602	0.999908780784035	0.45458	0.722319	0.85440	0	0.563428	0.19063	0	0.527494	0.11647	0	0.735409	0.98432	0	.	.	5.56	-3.45	0.04479	-0.661000	0.05410	-3.470000	0.02762	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.708000	0.34389	0.0:0.3612:0.1721:0.4667	6.514	0.21436	316	0.87161	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	510.49	33	chr11	118613842	.	C	A	510.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.423;DP=226;ExcessHet=0;FS=2.597;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.909;SOR=0.352	GT:AD:DP:GQ:PL	0/1:22,23:45:99:521,0,576	6	0	1	0
chr11	118660658	118660658	A	G	exonic	TREH	.	nonsynonymous SNV	TREH:NM_001301065:exon9:c.T890C:p.I297T,TREH:NM_007180:exon10:c.T983C:p.I328T	Trehalase deficiency	9	1502	11	0	0	11	0.00364842	.	.	.	3409315	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.040	0.00350055060882	0.0041	0.000998403	0.0037	0.0029	0.0029	0	0	0.0055	0.0018	0.0014	0.0024256	375	154602	rs200440695	0.0044	0.0044	0.0046	0.0042	0.0056	0.0043	0.0043	0.0051	0.0051	0.0008	0.0016	0.0016	2.536e-05	9.451e-05	0.0056	0.0053	0.0043	0.0016	0.0028	0.0028	0.0030	0.0025	0.0046	0.0026	0.0025	0.0041	0.0040	0.0013	0	0.0029	0.0006	0	0	0.0034	0.0046	0.0014	0.0019	0.039	0.42487	D	0.002	0.79402	D	0.155	0.28155	B	0.1	0.30674	B	0.927565	0.07515	N	1.032410	1	0.08975	N	.	.	.	1.99	0.21666	T	-2.22	0.50337	N	0.124	0.17966	-0.9561	0.39898	T	0.023	0.09832	T	9	0.004912615	0.00105	T	0.003501	0.07939	T	0.040	0.10527	.	.	0.0762999501168	0.06990	0.39121967931502216	0.39036	0.056584794161	0.06250	0.380212664604	0.22287	T	0.15081	0.49046	T	-0.606908	0.00132	T	-0.643742	0.09399	T	0.00433510021244433	0.00046	T	0.724828	0.33863	T	0.047562618	0.08151	0.07519413	0.16528	0.047562618	0.08151	0.07519413	0.16528	-4.986	0.37897	T	.	.	0.061	0.01075	B	.;.	.;.	1.519233	0.19508	14.30	0.87251620157261844	0.17095	0.07549	0.13562	N	AEFDBCI	0.060226	0.11432	N	-0.94904367902249	0.09713	0.4609674	-0.972955120076944	0.10395	0.523282	0.999955890966683	0.48110	0.615755	0.39536	0	0.563428	0.19063	0	0.618376	0.41669	0	0.664235	0.64389	0	.	.	5.24	1.64	0.22949	1.665000	0.37066	1.752000	0.28483	-0.065000	0.16512	0.022000	0.19841	0.002000	0.18203	0.368000	0.26066	0.567:0.0:0.433:0.0	6.804	0.22951	316	0.87161	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.006042	0.015152	0.002717	0.008772	0.000000	0.034483	0.000000	0.000000	0.07143	1511.46	34	chr11	118660658	.	A	G	1511.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.314;DP=317;ExcessHet=0;FS=4.108;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-0.494;SOR=1.048	GT:AD:DP:GQ:PL	0/1:69,65:134:99:1522,0,1649	6	0	1	0
chr11	118902577	118902577	C	A	exonic	BCL9L	.	nonsynonymous SNV	BCL9L:NM_182557:exon6:c.G1166T:p.G389V,BCL9L:NM_001378214:exon7:c.G1055T:p.G352V,BCL9L:NM_001378213:exon8:c.G1166T:p.G389V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.169361796831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.21634	T	0.012	0.63918	D	1.0	0.90584	D	0.982	0.75477	D	0.000629	0.42799	D	0.000000	1	0.81001	D	0.805	0.20218	L	-0.18	0.65747	T	-2.3	0.51157	N	0.646	0.65758	-0.5072	0.68388	T	0.295	0.66640	T	10	0.4983382	0.61399	T	0.169362	0.84721	D	0.254	0.56428	0.227	0.15257	0.494737054661	0.49108	0.6298170080152654	0.62915	0.327434873958	0.34880	0.788262069225	0.80179	T	0.52136	0.83268	D	0.0861514	0.62753	D	-0.114026	0.62289	T	0.949160039424896	0.63051	D	0.785621	0.42343	T	0.40967295	0.61396	0.24970049	0.50547	0.40967295	0.61397	0.24970049	0.50546	-4.911	0.35858	T	.	.	0.091	0.18247	B	.;.	.;.	3.096022	0.41708	21.4	0.99432820325638271	0.64374	0.95566	0.65232	D	AEFDBCI	0.512469	0.54067	D	0.256438328288435	0.53957	3.56271	0.221026736432739	0.51017	3.287856	0.999999999999982	0.74766	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.07	4.07	0.46726	5.699000	0.67967	3.219000	0.36843	0.460000	0.21577	1.000000	0.71638	1.000000	0.68203	0.622000	0.31948	0.0:1.0:0.0:0.0	16.439	0.83734	336	0.86165	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr11	118902577	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1191	6	1	0	0
chr11	118908600	118908600	C	T	exonic	BCL9L	.	nonsynonymous SNV	BCL9L:NM_182557:exon2:c.G82A:p.G28S,BCL9L:NM_001378213:exon4:c.G82A:p.G28S	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.0204875198448	0.0004	0.000399361	0.0006	0.0002	0.0004	0	0	0.0009	0.0022	0.0004	0.0005951	92	154602	rs145433932	0.0009	0.0009	0.0010	0.0009	0.0012	0.0009	0.0009	0.0011	0.0010	0.0002	0.0004	0.0006	2.519e-05	0.0001	0.0012	0.0011	0.0007	0.0005	0.0005	0.0005	0.0006	0.0004	0.0008	0.0004	0.0004	0.0006	0.0006	0.0002	0	0.0004	0.0003	0	9.425e-05	0	0.0008	0	0.0004	0.0	0.91255	D	1.0	0.01155	T	0.98	0.59353	D	0.368	0.43478	B	0.002597	0.36278	N	0.000000	0.959731	0.26174	N	0.345	0.11182	N	-0.33	0.68329	T	-0.41	0.41809	N	0.451	0.48872	-0.8818	0.49617	T	0.125	0.42966	T	10	0.027073383	0.00860	T	0.020488	0.43095	T	0.242	0.54781	.	.	0.486517018974	0.48284	0.16921036034583253	0.16841	0.67402453772	0.59623	0.672547876835	0.63201	T	0.098735	0.40285	T	-0.241456	0.15163	T	-0.193725	0.55241	T	0.047266088469494	0.05012	T	0.80032	0.46129	T	0.2783284	0.50887	0.24574414	0.50068	0.2783284	0.50886	0.24574414	0.50067	-3.166	0.12070	T	.	.	0.106	0.27161	B	.;.	.;.	4.557005	0.71774	25.7	0.9987487369114918	0.95244	0.86111	0.45331	D	AEFBCI	0.209703	0.33566	N	0.245204026039935	0.53401	3.509205	0.346705713258738	0.58311	4.000745	0.999992663545119	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.683762	0.67416	0	.	.	5.69	4.72	0.59248	1.326000	0.33341	5.837000	0.50214	0.599000	0.40250	0.990000	0.36992	1.000000	0.68203	0.992000	0.67800	0.1426:0.7199:0.1375:0.0	11.186	0.47882	309	0.87553	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	583.63	44	chr11	118908600	.	C	T	583.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.397;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.024;SOR=0.608	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1262	6	0	1	0
chr11	118979010	118979010	C	G	exonic	FOXR1	.	nonsynonymous SNV	FOXR1:NM_181721:exon3:c.C190G:p.P64A	.	429	1082	11	0	0	11	0.00505747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.401102286755	0.0057	0.00119808	0.0044	0.0017	0.0043	0	0.0003	0.0068	0.0057	0.0001	0.0045084	697	154602	rs45602538	0.0067	0.0067	0.0069	0.0065	0.0080	0.0066	0.0065	0.0079	0.0078	0.0011	0.0034	0.0091	5.054e-05	0.0008	0.0028	0.0080	0.0061	0.0002	0.0043	0.0043	0.0047	0.0039	0.0073	0.0041	0.0040	0.0068	0.0066	0.0016	0	0.0024	0.0118	0	0.0002	0.0068	0.0073	0.0052	0.0006	0.014	0.53172	D	0.022	0.57587	D	0.963	0.55692	D	0.564	0.49695	P	0.000001	0.84330	D	0.057101	0.999992	0.58761	D	2.485	0.72352	M	-4.37	0.97343	D	-3.8	0.71762	D	0.468	0.50418	0.754	0.93840	D	0.856	0.95186	D	10	0.007909238	0.00179	T	0.401102	0.93399	D	0.601	0.84237	.	.	0.978007857545	0.97776	0.32811968395035235	0.32724	0.607201376569	0.55536	0.356424987316	0.18864	T	0.316103	0.68766	T	-0.133102	0.30996	T	0.0483559	0.73475	D	0.0499710597967564	0.05495	T	.	.	.	0.23834144	0.46711	0.31269622	0.57270	0.23834144	0.46711	0.31269622	0.57269	-3.563	0.17324	T	.	.	0.131	0.28203	B	.	.	3.329037	0.45818	22.2	0.98620284075857068	0.43771	0.96685	0.70394	D	AEFDBI	0.266955	0.38376	N	0.260855350639023	0.54179	3.584069	0.164813835703459	0.47931	3.016169	0.999394831798296	0.39470	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	5.69	4.78	0.60666	4.192000	0.58176	4.030000	0.41330	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.971000	0.54645	0.0:0.9121:0.0:0.0879	10.719	0.45226	195	0.92448	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.005848	0.000000	0.000000	0.006098	0.000000	0.07143	654.83	76	chr11	118979010	.	C	G	654.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.648;DP=246;ExcessHet=0;FS=0.909;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.62;ReadPosRankSum=-0.215;SOR=0.522	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1359	6	0	1	0
chr11	119048832	119048832	C	T	exonic	HYOU1	.	nonsynonymous SNV	HYOU1:NM_001130991:exon18:c.G2047A:p.G683R,HYOU1:NM_006389:exon18:c.G2047A:p.G683R	.	424	1094	4	0	0	4	0.00182482	.	.	.	1419104	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.092	0.0084839299149	.	.	1.653e-05	0	0	0	0	3.002e-05	0	0	1.94e-05	3	154602	rs782328296	1.573e-05	1.573e-05	1.634e-05	1.513e-05	0.0016	1.048e-05	8.75e-06	0.0008	0.0006	0	0	0	0	0	0.0016	3.597e-06	0.0001	1.16e-05	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.463	0.12526	T	0.015	0.17086	B	0.032	0.22131	B	0.000617	0.42945	D	0.197476	0.575226	0.81001	D	0.46	0.12951	N	.	.	.	.	.	.	0.197	0.21710	-0.6591	0.62315	T	0.006	0.02131	T	10	0.11076179	0.20716	T	0.008484	0.22432	T	.	.	0.347	0.34274	0.316310170894	0.31242	0.23000971160892422	0.22915	.	.	0.333109050989	0.15404	T	0.10083	0.40701	T	-0.172805	0.24811	T	-0.422353	0.30805	T	0.138056847916953	0.16105	T	.	.	.	0.067721635	0.14692	0.061021037	0.11717	0.067721635	0.14692	0.061021037	0.11716	-6.569	0.50816	T	.	.	0.127	0.31956	B	.;.;.	.;.;.	2.934114	0.38987	20.9	0.90838167159212846	0.20087	0.93064	0.57236	D	AEFDBCI	0.648866	0.62353	D	-0.153948217019382	0.35066	2.009536	0.0204496400212365	0.40666	2.430569	0.999999586239119	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.37	5.37	0.76949	4.134000	0.57751	5.919000	0.51137	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.535000	0.29822	0.0:1.0:0.0:0.0	19.297	0.94112	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	304.45	37	chr11	119048832	.	C	T	304.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.67;DP=225;ExcessHet=0;FS=1.643;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-2.268;SOR=1.179	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,111,1665	6	0	1	0
chr11	119101571	119101571	T	A	exonic	DPAGT1	.	nonsynonymous SNV	DPAGT1:NM_001382:exon1:c.A85T:p.I29F	Congenital disorder of glycosylation, type Ij, Autosomal recessive;Myasthenic syndrome, congenital, 13, with tubular aggregates, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	YES	76382	DPAGT1-congenital_disorder_of_glycosylation|Congenital_myasthenic_syndrome_13	MONDO:MONDO:0011964,MedGen:C2931004,OMIM:608093,Orphanet:86309|MONDO:MONDO:0013883,MedGen:C3553645,OMIM:614750,Orphanet:353327,Orphanet:590	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.815	0.748715405601	.	.	0.0001	0	0	0	0	1.5e-05	0	0.0009	0.0001035	16	154602	rs397515328	6.498e-05	6.498e-05	3.811e-05	9.213e-05	0.0008	5.428e-05	5.041e-05	0.0007	0.0006	0	0	0	0	0	0.0002	1.529e-05	8.279e-05	0.0008	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	7.282e-05	3.026e-05	0	0	0	0	0	0	0	0	0	0.0004	0.045	0.40832	D	0.032	0.53426	D	0.246	0.31102	B	0.224	0.37970	B	0.000000	0.84330	D	0.000000	1	0.81001	D	3.215	0.89331	M	-3.19	0.93170	D	-3.26	0.65397	D	0.972	0.98268	0.720	0.93421	D	0.826	0.94164	D	10	0.70102996	0.72445	D	0.748715	0.97994	D	0.815	0.94046	0.611	0.74418	0.985751839367	0.98559	0.9366662413253155	0.93646	1.33609069953	0.83747	0.656903743744	0.60967	T	0.790513	0.94553	D	0.219696	0.75747	D	0.464815	0.93897	D	0.726040661334991	0.42006	D	0.938006	0.76748	D	0.86095744	0.88159	0.7749982	0.86724	0.8263322	0.85651	0.740403	0.84656	-11.031	0.79828	D	0.5124130710261844	0.58597	0.699	0.72927	P	.;.;.	.;.;.	4.439052	0.68904	25.3	0.99016158140785737	0.50484	0.87979	0.47712	D	ALL	0.936542	0.93302	D	0.416738678260587	0.62342	4.448596	0.502840850501368	0.68183	5.184812	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.65	5.65	0.86881	7.674000	0.83146	7.788000	0.68824	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	14.843	0.69869	228	0.91137	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	866.53	34	chr11	119101571	.	T	A	866.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.48;DP=235;ExcessHet=0;FS=3.6;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=-0.152;SOR=0.942	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1156	6	0	1	0
chr11	119150009	119150009	C	T	exonic	ABCG4	.	nonsynonymous SNV	ABCG4:NM_001142505:exon2:c.C44T:p.P15L,ABCG4:NM_001348191:exon2:c.C44T:p.P15L,ABCG4:NM_022169:exon2:c.C44T:p.P15L	.	416	1082	22	2	0	26	0.0118721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	.	0.0075	0.00359425	0.0098	0.0010	0.0039	0	0.0429	0.0113	0.0116	0.0057	0.0089197	1379	154602	rs113286118	0.0087	0.0088	0.0087	0.0088	0.0089	0.0086	0.0086	0.0087	0.0087	0.0009	0.0042	0.0029	2.519e-05	0.0322	0.0077	0.0089	0.0076	0.0051	0.0080	0.0081	0.0069	0.0092	0.0090	0.0077	0.0075	0.0084	0.0082	0.0014	0.0022	0.0041	0.0037	0.0004	0.0409	0.0034	0.0090	0.0081	0.0042	0.002	0.72154	D	0.007	0.70582	D	0.897	0.49385	P	0.11	0.31460	B	0.000002	0.62929	D	0.060836	0.999968	0.52935	D	1.935	0.51832	L	3.24	0.06845	T	-1.17	0.29933	N	0.247	0.28028	-1.0362	0.18481	T	0.013	0.04938	T	10	0.004887998	0.00104	T	.	.	.	0.125	0.34456	.	.	0.682096102456	0.67939	0.39496038803249733	0.39411	.	.	0.59180533886	0.51749	T	0.15108	0.49086	T	-0.492883	0.00627	T	-0.471374	0.25369	T	0.0296305477632103	0.01933	T	0.819218	0.47714	T	0.18684475	0.40111	0.18629368	0.41794	0.18684475	0.40111	0.18629368	0.41793	-5.226	0.39205	T	.	.	0.125	0.26419	B	.;.;.;.	.;.;.;.	3.511807	0.49179	22.7	0.99813081388684832	0.89708	0.54838	0.29714	D	AEFDBCI	0.276283	0.39106	N	0.00217070683941212	0.41955	2.518879	0.0239417855891425	0.40829	2.442973	0.999899937018009	0.45129	0.582742	0.33608	0	0.563428	0.19063	0	0.503968	0.08637	0	0.620976	0.48614	0	.	.	4.9	4.9	0.63643	0.345000	0.19720	5.866000	0.50483	0.596000	0.33519	0.048000	0.21332	1.000000	0.68203	0.980000	0.58198	0.0:0.8456:0.1544:0.0	13.644	0.61743	228	0.91137	.;.;.;.	.	.	.	.	rs113286118	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005544	0.015152	0.002717	0.005848	0.000000	0.008621	0.006135	0.007576	0.07143	702.63	34	chr11	119150009	.	C	T	702.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.6;DP=217;ExcessHet=0;FS=1.113;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=-0.838;SOR=0.976	GT:AD:DP:GQ:PL	0/1:23,27:50:99:713,0,503	6	0	1	0
chr11	119342609	119342609	C	A	exonic	MFRP	.	nonsynonymous SNV	MFRP:NM_031433:exon11:c.G1374T:p.L458F	Microphthalmia, isolated 5, Autosomal recessive;Nanophthalmos 2	0	1471	50	1	0	52	0.0173681	.	.	.	254020	Isolated_microphthalmia_5|not_provided|not_specified|Retinal_degeneration	MONDO:MONDO:0012605,MedGen:C1970236,OMIM:611040,Orphanet:251279|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000546,Human_Phenotype_Ontology:HP:0007632,Human_Phenotype_Ontology:HP:0007863,MONDO:MONDO:0004580,MeSH:D012162,MedGen:C0035304	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.109	.	0.0092	0.00698882	0.0085	0.0062	0.0078	0.0001	0.0025	0.0106	0.0129	0.0088	0.0082017	1268	154602	rs145881139	0.0081	0.0081	0.0079	0.0083	0.0314	0.0080	0.0079	0.0277	0.0262	0.0064	0.0081	0.0276	2.519e-05	0.0022	0.0314	0.0080	0.0109	0.0077	0.0089	0.0089	0.0095	0.0083	0.0117	0.0085	0.0084	0.0103	0.0098	0.0065	0.0011	0.0117	0.0309	0	0.0015	0.0680	0.0102	0.0180	0.0070	.	.	.	0.182	0.29249	T	0.744	0.43069	P	0.154	0.34351	B	0.010358	0.29961	N	0.247230	1	0.19486	N	2.62	0.76659	M	.	.	.	.	.	.	0.298	0.33687	-0.8583	0.51384	T	0.136	0.45126	T	9	0.005038619	0.00109	T	.	.	.	.	.	0.434	0.48500	0.627711000292	0.62467	0.18469345112672264	0.18387	.	.	.	.	.	0.063749	0.32256	T	-0.566532	0.00232	T	-0.576172	0.14889	T	0.0294748810528996	0.01909	T	0.642936	0.25461	T	0.18541276	0.39903	0.2185967	0.46569	0.17078535	0.37673	0.2185967	0.46568	-5.476	0.41643	T	0.5842365118693101	0.65103	0.151	0.33504	B	.	.	2.066711	0.26282	17.06	0.99012794696118744	0.50399	0.10667	0.16108	N	AEFDBI	0.234390	0.35716	N	-0.343735241443384	0.27504	1.509477	-0.433842890552151	0.24010	1.312488	0.947910229618793	0.27775	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	5.3	1.96	0.25203	-0.031000	0.12237	2.224000	0.31475	0.599000	0.40250	0.000000	0.06391	0.016000	0.20520	0.965000	0.52897	0.0:0.5711:0.4289:0.0	16.728	0.85288	744	0.52588	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.028497	0.045455	0.035326	0.031469	0.000000	0.025862	0.015244	0.007576	0.07143	101.83	36	chr11	119342609	.	C	A	101.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.21;DP=203;ExcessHet=0;FS=5.497;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.79;ReadPosRankSum=-1.176;SOR=1.479	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1342	6	0	1	0
chr11	120459278	120459278	C	T	exonic	ARHGEF12	.	nonsynonymous SNV	ARHGEF12:NM_001198665:exon25:c.C2428T:p.R810W,ARHGEF12:NM_001301084:exon26:c.C2176T:p.R726W,ARHGEF12:NM_015313:exon26:c.C2485T:p.R829W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0415164341889	.	.	2.487e-05	0	0	0	0	3e-05	0	6.058e-05	1.94e-05	3	154602	rs771854554	1.916e-05	1.984e-05	2.043e-05	1.789e-05	2.339e-05	1.329e-05	1.144e-05	1.627e-05	1.382e-05	0	0	0	0	0	0	2.339e-05	0	2.321e-05	6.573e-06	6.568e-06	0	1.346e-05	6.544e-05	0	0	.	.	0	0	6.544e-05	0	0	0	0	0	0	0	0.003	0.68238	D	0.068	0.45530	T	1.0	0.90584	D	0.989	0.81110	D	0.000607	0.42945	D	0.000000	0.992727	0.41725	D	0.69	0.16971	N	-0.1	0.64264	T	-3.68	0.71519	D	0.486	0.52029	-0.4591	0.70098	T	0.255	0.62507	T	10	0.37285677	0.53609	T	0.041516	0.59970	D	0.348	0.66956	0.558	0.67684	0.580173979466	0.57688	0.4681435899153393	0.46733	1.48703679433	0.86806	0.708996593952	0.68448	T	0.443684	0.78738	T	-0.107039	0.35259	T	-0.210002	0.53696	T	0.538226201310696	0.34038	D	0.916908	0.70254	D	0.62542	0.74053	0.44435433	0.67620	0.62542	0.74054	0.44435433	0.67620	-9.717	0.72200	D	.	.	0.186	0.44553	B	.;.;.	.;.;.	5.124783	0.85741	28.7	0.99923827482590044	0.98917	0.86314	0.45570	D	AEFBI	0.440140	0.49883	N	0.162688122887843	0.49413	3.142105	0.197251904111567	0.49697	3.169748	0.765989034793211	0.23588	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.62	2.34	0.28071	1.910000	0.39557	3.340000	0.37699	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.4181:0.5819:0.0:0.0	16.798	0.85469	900	0.24599	.;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	352.83	33	chr11	120459278	.	C	T	352.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.8;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-1.038;SOR=0.941	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1010	6	0	1	0
chr11	121130097	121130097	C	A	exonic	TBCEL-TECTA;TECTA	.	nonsynonymous SNV	TECTA:NM_005422:exon10:c.C2827A:p.L943M,TBCEL-TECTA:NM_001378761:exon16:c.C3784A:p.L1262M	.	0	1511	11	0	0	11	0.00362677	.	.	YES	175081	Autosomal_recessive_nonsyndromic_hearing_loss_21|not_specified|Autosomal_dominant_nonsyndromic_hearing_loss_12|not_provided	MONDO:MONDO:0011351,MedGen:C1863655,OMIM:603629,Orphanet:90636|MedGen:CN169374|MONDO:MONDO:0011102,MedGen:C1832187,OMIM:601543,Orphanet:90635|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.236	0.0192268719862	0.0003	0.000599042	0.0003	0	0.0002	0	0.0002	0.0004	0	0.0002	0.0002458	38	154602	rs139158022	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	5.974e-05	0.0003	3.826e-05	0	7.555e-05	0.0014	0.0002	0.0004	0.0004	0.0003	0.0003	0.0002	0.0003	0.0014	0.0002	0.0002	0.0009	0.0008	2.406e-05	0	0.0014	0	0	0	0.0034	0.0002	0	0.0012	0.263	0.16412	T	0.828	0.03739	T	0.63	0.40197	P	0.285	0.40506	B	0.000006	0.62929	D	0.064020	0.56821	0.31200	N	0.275	0.09989	N	-1.08	0.77078	T	-0.1	0.08495	N	0.261	0.30687	-0.6770	0.61511	T	0.208	0.56744	T	10	0.10588884	0.19595	T	0.019227	0.41536	T	0.236	0.53931	.	.	0.737386399311	0.73503	0.6192041124274965	0.61853	0.540633260378	0.51256	0.62799680233	0.56861	T	0.100159	0.40568	T	-0.25307	0.13724	T	-0.30097	0.44623	T	0.0263128770430674	0.01448	T	0.683432	0.29175	T	0.19398151	0.41130	0.16958521	0.39004	0.19398151	0.41130	0.16958521	0.39004	-4.538	0.31382	T	0.05524843844864668	0.01217	0.356	0.56933	A	.;.;.	.;.;.	1.834828	0.23309	15.97	0.98570378493641309	0.43102	0.76528	0.37540	D	AEFDBHCI	0.171527	0.29851	N	-0.140451599339448	0.35641	2.049851	-0.0204268381083586	0.38793	2.290673	0.638455769395831	0.22031	0.553676	0.25195	0	0.610034	0.51514	0	0.550215	0.18615	0	0.620846	0.47308	0	.	.	5.78	2.88	0.32617	0.658000	0.24662	1.717000	0.28234	0.598000	0.34611	0.994000	0.38300	0.997000	0.33255	0.999000	0.91618	0.0:0.6651:0.0:0.3349	9.341	0.37244	778	0.48011	Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.07143	1214.49	34	chr11	121130097	.	C	A	1214.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.782;DP=311;ExcessHet=0;FS=2.433;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=-0.336;SOR=0.999	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr11	123606675	123606675	A	G	exonic	GRAMD1B	.	nonsynonymous SNV	GRAMD1B:NM_001286564:exon10:c.A841G:p.I281V,GRAMD1B:NM_020716:exon10:c.A961G:p.I321V,GRAMD1B:NM_001286563:exon11:c.A982G:p.I328V,GRAMD1B:NM_001330396:exon11:c.A841G:p.I281V,GRAMD1B:NM_001367418:exon11:c.A1042G:p.I348V,GRAMD1B:NM_001367419:exon11:c.A1042G:p.I348V,GRAMD1B:NM_001367420:exon11:c.A1042G:p.I348V,GRAMD1B:NM_001367421:exon12:c.A1258G:p.I420V	.	433	1064	24	1	0	26	0.0120706	.	.	.	2809962	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.021	0.00961510552212	0.0006	0.00179712	0.0018	0	0	0	0	0.0017	0.0094	0.006	0.0015006	232	154602	rs191981781	0.0010	0.0011	0.0008	0.0013	0.0123	0.0010	0.0010	0.0100	0.0092	0.0001	0.0002	0.0186	0	0	0.0123	0.0003	0.0025	0.0052	0.0009	0.0009	0.0009	0.0009	0.0060	0.0008	0.0007	0.0043	0.0037	7.217e-05	0	0.0007	0.0159	0	0	0.0137	0.0004	0.0014	0.0060	0.607	0.06243	T	0.592	0.08654	T	0.0	0.02946	B	0.0	0.01387	B	0.019927	0.27150	N	0.428098	1	0.08975	N	.	.	.	2.03	0.28391	T	0.08	0.06026	N	0.104	0.11197	-1.0079	0.27572	T	0.031	0.13155	T	10	0.0061226487	0.00138	T	0.009615	0.25130	T	0.021	0.04004	.	.	0.043077524339	0.03247	0.1719730501957236	0.17117	0.305991248268	0.32896	0.398189902306	0.24816	T	0.001756	0.05765	T	-0.617935	0.00113	T	-0.659306	0.08313	T	0.0248547319038031	0.01253	T	0.857114	0.54640	D	0.024626387	0.01313	0.038432624	0.03710	0.024626387	0.01313	0.038432624	0.03709	-2.676	0.07103	T	.	.	0.059	0.00979	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.934568	0.24574	16.45	0.94048183895678528	0.24174	0.64600	0.32460	D	AEFBI	0.093052	0.18832	N	-0.589042774167135	0.19277	1.007591	-0.379683269647464	0.25603	1.409017	0.0222097322305338	0.13412	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.528226	0.09195	0	.	.	5.25	2.71	0.31092	2.542000	0.45403	4.496000	0.43591	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.817000	0.38496	0.7174:0.2826:0.0:0.0	11.592	0.50207	713	0.56348	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.010574	0.020202	0.005435	0.017544	0.000000	0.008621	0.015244	0.003788	0.07143	45.44	39	chr11	123606675	.	A	G	45.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.282;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.57;ReadPosRankSum=0.431;SOR=0.223	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr11	123805658	123805658	C	T	exonic	OR6M1	.	nonsynonymous SNV	OR6M1:NM_001005325:exon1:c.G692A:p.R231H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	.	0.0082	0.0091853	0.0025	0.0264	0.0015	0.0003	0	0.0002	0.0011	6.069e-05	0.0024515	379	154602	rs77812199	0.0009	0.0009	0.0010	0.0007	0.0274	0.0008	0.0008	0.0260	0.0254	0.0274	0.0022	0	0.0007	0	0.0007	7.824e-05	0.0018	4.639e-05	0.0077	0.0077	0.0079	0.0076	0.0267	0.0073	0.0072	0.0254	0.0249	0.0267	0	0.0021	0	0.0008	0	0	0.0001	0.0071	0.0008	0.013	0.53900	D	0.015	0.61642	D	0.552	0.38158	P	0.262	0.39564	B	0.004465	0.33710	U	0.000000	1	0.08975	N	3.045	0.86684	M	8.07	0.00306	T	-4.52	0.78302	D	0.09	0.06854	-1.0031	0.29021	T	0.001	0.00255	T	10	0.0029399395	0.00047	T	.	.	.	0.094	0.27141	.	.	0.366277470483	0.36239	0.18875490100788272	0.18793	0.202802321583	0.22698	0.171461999416	0.00038	T	0.007283	0.06695	T	-0.670848	0.00054	T	-0.716131	0.04984	T	0.0630678438348717	0.07643	T	0.90391	0.66280	D	0.4810023	0.65961	0.27054328	0.52946	0.4810023	0.65961	0.27054328	0.52945	-8.715	0.65844	D	.	.	0.172	0.37652	B	.	.	1.837775	0.23349	15.98	0.98125755454022234	0.38473	0.17214	0.19739	N	AEFBI	0.051407	0.09078	N	-0.369537508837188	0.26561	1.450486	-0.567312498997996	0.20348	1.09588	1.62616299877983E-4	0.05721	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.48	2.57	0.29928	0.117000	0.15414	-4.895000	0.01937	0.528000	0.24546	0.000000	0.06391	0.000000	0.08366	0.818000	0.38543	0.0:0.878:0.0:0.122	8.276	0.31033	718	0.55760	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.005051	0.005435	0.002924	0.000000	0.008621	0.000000	0.000000	0.07143	1537.44	45	chr11	123805658	.	C	T	1537.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.32;DP=322;ExcessHet=0;FS=2.314;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-0.145;SOR=0.644	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr11	123943013	123943013	C	T	exonic	OR6T1	.	nonsynonymous SNV	OR6T1:NM_001005187:exon1:c.G826A:p.V276I	.	433	1016	68	5	0	78	0.0369668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0065	0.0081869	0.0100	0.0008	0.0065	0	0.0012	0.0097	0.0209	0.0280	0.009269	1433	154602	rs139333041	0.0087	0.0087	0.0079	0.0094	0.0477	0.0085	0.0085	0.0430	0.0412	0.0022	0.0061	0.0136	2.519e-05	0.0012	0.0477	0.0077	0.0107	0.0283	0.0068	0.0068	0.0070	0.0066	0.0274	0.0065	0.0063	0.0236	0.0222	0.0011	0.0011	0.0103	0.0138	0.0006	0.0014	0.0408	0.0088	0.0114	0.0274	0.203	0.20154	T	0.203	0.27325	T	0.747	0.43174	P	0.179	0.35808	B	.	.	.	.	1	0.08975	N	0.84	0.21119	L	8.44	0.00229	T	-0.55	0.16799	N	0.035	0.01004	-1.0733	0.08702	T	0.000	0.00075	T	9	0.010153651	0.00227	T	.	.	.	0.060	0.17295	.	.	.	.	0.0191124744557639	0.01865	0.0491267032822	0.05371	0.189285472035	0.00213	T	0.004397	0.03807	T	-0.759818	0.00015	T	-0.843253	0.01051	T	0.00305530430589814	0.00032	T	0.328667	0.06851	T	0.04899516	0.08630	0.032111116	0.01896	0.04899516	0.08629	0.032111116	0.01896	-4.387	0.29381	T	.	.	0.080	0.07937	B	.	.	-0.036252	0.04038	0.931	0.96464211205943551	0.29911	0.10409	0.15924	N	AEFI	0.064385	0.12500	N	-0.838860823313599	0.12325	0.6000964	-0.963892808539815	0.10602	0.5350243	2.32834928764527E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.7	1.72	0.23498	-1.643000	0.02106	-4.186000	0.02293	-0.231000	0.07715	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2019:0.4776:0.1968:0.1236	1.932	0.03128	883	0.28872	GPCR, rhodopsin-like, 7TM	.	.	HEPACAM	Adipose_Subcutaneous	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.040785	0.050505	0.044837	0.058480	0.000000	0.043103	0.036585	0.022727	0.07143	1767.44	34	chr11	123943013	.	C	T	1767.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.23;DP=292;ExcessHet=0;FS=0.721;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.22;ReadPosRankSum=-1.137;SOR=0.612	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1225	6	0	1	0
chr11	124016178	124016178	A	G	exonic	OR10G4	.	nonsynonymous SNV	OR10G4:NM_001004462:exon1:c.A604G:p.I202V	.	433	1086	2	1	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00582896675969	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	3.84e-05	1	26028	rs746674745	2.736e-06	2.736e-06	2.722e-06	2.75e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.811	0.03028	T	0.753	0.04754	T	0.001	0.07471	B	0.011	0.15521	B	0.007074	0.31620	N	0.144205	0.999211	0.21497	N	-0.18	0.04256	N	1.26	0.36330	T	0.01	0.06868	N	0.045	0.01740	-1.0585	0.12134	T	0.039	0.16806	T	10	0.06883666	0.09792	T	0.005829	0.15161	T	0.015	0.02232	0.273	0.22369	0.137902524267	0.13322	0.09333638095506697	0.09265	0.398644923858	0.40916	0.193156719208	0.00286	T	0.00223	0.01633	T	-0.271083	0.11636	T	-0.611683	0.11849	T	0.0306153624272855	0.02085	T	0.463154	0.13467	T	0.037406515	0.04789	0.03238958	0.01968	0.037406515	0.04789	0.03238958	0.01968	-2.269	0.04389	T	.	.	0.140	0.31431	B	.;.;.	.;.;.	-0.277087	0.02718	0.358	0.20038182472862653	0.00703	0.08335	0.14278	N	AEFI	0.047488	0.08001	N	-1.49823864654518	0.01863	0.08170011	-1.50568738231049	0.02300	0.1055616	5.34340564699367E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.33	0.829	0.17984	0.105000	0.15169	-10.705000	0.00674	-1.120000	0.01474	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.7035:0.0:0.1118:0.1848	3.913	0.08712	808	0.43318	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	4302.44	372	chr11	124016178	.	A	G	4302.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.898;DP=1799;ExcessHet=0;FS=1.703;MLEAC=1;MLEAF=0.071;MQ=58.5;MQRankSum=-0.629;QD=11.57;ReadPosRankSum=-0.612;SOR=0.794	GT:AD:DP:GQ:PL	0/0:340,0:340:99:0,120,1800	6	0	1	0
chr11	124023839	124023839	C	G	exonic	OR10G9	.	nonsynonymous SNV	OR10G9:NM_001001953:exon1:c.C827G:p.T276S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.000971598848654	7.7e-05	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs372610802	6.841e-06	6.84e-06	5.445e-06	8.25e-06	0.0003	3.46e-06	2.52e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	7.194e-06	0	0	1.971e-05	1.97e-05	2.569e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.017	0.51248	D	0.126	0.35205	T	0.987	0.61912	D	0.961	0.70482	D	0.001007	0.40652	N	0.000000	0.964974	0.25958	N	1.47	0.36993	L	8.54	0.00194	T	-2.23	0.50012	N	0.164	0.17278	-0.8698	0.50544	T	0.001	0.00467	T	10	0.22419497	0.39218	T	9.72E-4	0.01003	T	0.161	0.41658	0.368	0.37687	0.523031302909	0.51948	0.0791907192702189	0.07854	0.439910430065	0.44006	0.236803084612	0.02510	T	0.013135	0.11417	T	-0.252624	0.13778	T	-0.537008	0.18591	T	0.480200380086899	0.31904	T	0.591241	0.21771	T	0.1840355	0.39699	0.21118048	0.45536	0.1840355	0.39699	0.21118048	0.45535	-5.038	0.37250	T	.	.	0.189	0.40666	B	.	.	2.406253	0.30922	18.58	0.99450764571976469	0.65274	0.81532	0.40916	D	AEFGI	0.169334	0.29616	N	0.409306896304069	0.61932	4.401358	0.295016094256089	0.55249	3.687997	7.84384067528615E-4	0.07810	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.39	3.39	0.37919	1.541000	0.35732	-1.654000	0.04978	0.546000	0.25710	0.005000	0.17040	0.000000	0.08366	0.026000	0.12556	0.0:1.0:0.0:0.0	14.048	0.64236	810	0.42761	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	2340.44	44	chr11	124023839	.	C	G	2340.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.9;DP=534;ExcessHet=0;FS=4.019;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.749;SOR=0.456	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	6	0	1	0
chr11	124440622	124440622	C	T	exonic	OR8B8	.	nonsynonymous SNV	OR8B8:NM_012378:exon1:c.G464A:p.G155E	.	424	1062	34	2	0	38	0.0175763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.00438921995786	0.0021	0.000998403	0.0028	0.0002	0.0010	0	0.0002	0.0026	0.0077	0.0085	0.0024644	381	154602	rs140865479	0.0024	0.0024	0.0022	0.0026	0.0094	0.0023	0.0023	0.0078	0.0076	0.0004	0.0015	0.0113	0	1.872e-05	0.0094	0.0020	0.0029	0.0083	0.0020	0.0020	0.0020	0.0021	0.0064	0.0018	0.0018	0.0047	0.0041	0.0004	0	0.0030	0.0127	0	9.425e-05	0	0.0024	0.0028	0.0064	0.065	0.36310	T	0.106	0.37872	T	0.848	0.46844	P	0.651	0.52497	P	0.031170	0.25205	N	0.280453	1	0.08975	N	1.46	0.36832	L	1.21	0.37230	T	-5.93	0.89029	D	0.161	0.16864	-0.9993	0.30115	T	0.113	0.40354	T	10	0.008491397	0.00192	T	0.004389	0.10718	T	0.135	0.36572	.	.	0.667980572847	0.66518	0.6225345544862408	0.62186	0.0525529913828	0.05790	0.266837418079	0.05732	T	0.019694	0.15640	T	-0.446841	0.01179	T	-0.408376	0.32412	T	0.0992580273878766	0.12276	T	0.412859	0.10744	T	0.35347536	0.57336	0.3822487	0.63215	0.35347536	0.57337	0.3822487	0.63215	-7.199	0.55474	T	.	.	0.447	0.62038	A	.;.	.;.	4.085704	0.60807	24.3	0.99434978174576394	0.64472	0.08460	0.14386	N	AEFBCI	0.068063	0.13408	N	0.101083701202438	0.46514	2.890536	0.0160951037361045	0.40462	2.415092	0.999707412909964	0.41986	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.52	3.52	0.39415	0.418000	0.20950	.	.	0.599000	0.40250	0.001000	0.13787	0.206000	0.23607	0.974000	0.55675	0.0:0.7221:0.0:0.2779	4.610	0.11784	769	0.49307	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.008152	0.005848	0.000000	0.017241	0.012195	0.007576	0.07143	2776.44	34	chr11	124440622	.	C	T	2776.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.042;DP=423;ExcessHet=0;FS=1.561;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=0.58;SOR=0.585	GT:AD:DP:GQ:PL	0/1:128,112:240:99:2787,0,3282	6	0	1	0
chr11	124571017	124571017	G	A	exonic	OR8A1	.	nonsynonymous SNV	OR8A1:NM_001005194:exon1:c.G898A:p.V300M	.	432	1085	4	1	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0055	0.00838658	0.0017	0.0159	0.0012	0	0	0.0003	0.0022	0.0003	0.0017076	264	154602	rs116716423	0.0007	0.0007	0.0008	0.0007	0.0190	0.0007	0.0007	0.0178	0.0173	0.0190	0.0015	3.841e-05	0.0002	0	0.0040	0.0002	0.0018	0.0005	0.0041	0.0041	0.0040	0.0042	0.0133	0.0038	0.0037	0.0124	0.0120	0.0133	0	0.0030	0	0.0002	0	0.0102	0.0002	0.0052	0	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	0.379518	0.04411	N	1.512350	1	0.08975	N	-0.08	0.04796	N	.	.	.	.	.	.	.	.	-1.0068	0.27912	T	0.013	0.04890	T	10	0.0035787225	0.00065	T	.	.	.	0.035	0.08770	.	.	0.0986583533028	0.09354	0.09097398753495536	0.09030	0.0633483782219	0.07056	0.180566951632	0.00099	T	0.010737	0.09664	T	-0.717567	0.00029	T	-0.791188	0.02132	T	0.010253665684161	0.00139	T	0.670833	0.27951	T	0.020424966	0.00601	0.03445628	0.02516	0.020424966	0.00600	0.03445628	0.02516	-3.448	0.15711	T	.	.	0.084	0.10304	B	.;.;.	.;.;.	-0.356609	0.02380	0.262	0.4036593830135598	0.02844	0.00616	0.02727	N	AEFBI	0.021889	0.01028	N	-2.06202047637857	0.00155	0.006637934	-2.17368830722708	0.00128	0.005634801	0.999985128181917	0.51787	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.08	-10.2	0.00305	-5.126000	0.00175	.	.	-1.300000	0.01245	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.1033:0.3762:0.3977:0.1227	7.518	0.26779	731	0.54177	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010574	0.015152	0.021739	0.008772	0.000000	0.008621	0.003049	0.000000	0.07143	959.44	76	chr11	124571017	.	G	A	959.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.592;DP=271;ExcessHet=0;FS=0.874;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-0.983;SOR=0.576	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	6	0	1	0
chr11	124619432	124619432	T	A	exonic	PANX3	.	nonsynonymous SNV	PANX3:NM_052959:exon4:c.T676A:p.Y226N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.602	.	0.009	0.00519169	0.0021	0.0222	0.0012	0	0	4.497e-05	0	6.058e-05	0.001837	284	154602	rs35607342	0.0006	0.0006	0.0007	0.0005	0.0224	0.0006	0.0006	0.0211	0.0206	0.0224	0.0014	0	0	0	0.0009	8.093e-06	0.0010	5.797e-05	0.0067	0.0067	0.0067	0.0068	0.0232	0.0064	0.0063	0.0220	0.0215	0.0232	0	0.0032	0	0	0	0	1.47e-05	0.0052	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999993	0.58761	D	2.525	0.73725	M	1.57	0.29342	T	-6.09	0.89947	D	0.956	0.96531	-0.7631	0.57237	T	0.091	0.34847	T	10	0.015671253	0.00329	T	.	.	.	0.602	0.84291	.	.	0.342400092842	0.33857	0.8383497034669378	0.83794	0.775707338762	0.65018	0.684334516525	0.64891	T	0.307036	0.67921	T	-0.398297	0.02376	T	-0.327317	0.41767	T	0.0387994544671015	0.03475	T	0.861414	0.55526	D	0.8734354	0.89135	0.8378145	0.90694	0.8734354	0.89137	0.8378145	0.90695	-9.242	0.69242	D	.	.	0.617	0.69575	P	.	.	4.558509	0.71814	25.7	0.99119240934038766	0.52932	0.98297	0.81376	D	AEFBI	0.929363	0.91500	D	0.715394799588615	0.80640	7.339608	0.642017238418222	0.78018	6.792392	0.999999807183625	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.24	5.24	0.72863	7.482000	0.80187	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.721000	0.34804	0.0:0.0:0.0:1.0	15.131	0.72197	621	0.65931	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	2866.44	36	chr11	124619432	.	T	A	2866.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.1;DP=419;ExcessHet=0;FS=1.068;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.446;SOR=0.805	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1155	6	0	1	0
chr11	124660795	124660795	C	T	exonic	SIAE	.	nonsynonymous SNV	SIAE:NM_170601:exon3:c.G238A:p.D80N,SIAE:NM_001199922:exon5:c.G133A:p.D45N	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.025212931977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.901	0.03565	T	0.888	0.03152	T	0.0	0.02946	B	0.001	0.04355	B	0.034542	0.24756	N	0.453686	1	0.08975	N	-1.2	0.00838	N	-1.74	0.83413	D	0.49	0.02993	N	0.195	0.21969	-0.8159	0.54189	T	0.134	0.44700	T	10	0.050790906	0.04864	T	0.025213	0.48187	D	0.184	0.45763	0.538	0.64874	0.181679512989	0.17746	0.5093570460998874	0.50857	0.130256795033	0.14695	0.277605295181	0.07161	T	0.081515	0.36616	T	-0.217306	0.18363	T	-0.549921	0.17333	T	0.033512147492149	0.02556	T	0.666933	0.27600	T	0.016528713	0.00204	0.024147907	0.00430	0.016528713	0.00204	0.024147907	0.00430	-3.842	0.21433	T	.	.	0.061	0.04517	B	.;.;.	.;.;.	-0.414632	0.02158	0.210	0.67214336529550012	0.08288	0.00385	0.01942	N	AEFI	0.028146	0.02428	N	-1.50239083923861	0.01834	0.08041945	-1.44015087639496	0.02860	0.1323713	2.54448629094208E-4	0.06190	0.706548	0.73137	0	0.670034	0.63936	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.84	-2.93	0.05261	-0.269000	0.08626	.	.	-0.266000	0.06809	0.001000	0.13787	0.000000	0.08366	0.118000	0.19084	0.0:0.5005:0.1182:0.3814	8.395	0.31711	814	0.42100	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	495.63	34	chr11	124660795	.	C	T	495.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.529;DP=212;ExcessHet=0;FS=1.561;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.09;ReadPosRankSum=0.413;SOR=1.112	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1170	6	0	1	0
chr11	124878634	124878634	C	T	exonic	ROBO3	.	nonsynonymous SNV	ROBO3:NM_001370361:exon5:c.C518T:p.T173M,ROBO3:NM_001370366:exon5:c.C323T:p.T108M,ROBO3:NM_001370358:exon6:c.C518T:p.T173M,ROBO3:NM_001370359:exon6:c.C518T:p.T173M,ROBO3:NM_001370364:exon6:c.C323T:p.T108M,ROBO3:NM_001370356:exon7:c.C518T:p.T173M,ROBO3:NM_001370357:exon7:c.C518T:p.T173M,ROBO3:NM_022370:exon23:c.C3371T:p.T1124M	Gaze palsy, horizontal, with progressive scoliosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2390976	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.0185969286431	.	.	3.639e-05	0	9.705e-05	0.0001	0	1.634e-05	0	6.614e-05	2.59e-05	4	154602	rs752560301	1.78e-05	1.779e-05	1.771e-05	1.789e-05	0.0001	1.238e-05	1.052e-05	4.369e-05	2.774e-05	2.989e-05	0.0001	0	2.52e-05	0	0	9.896e-06	3.314e-05	6.97e-05	3.286e-05	3.283e-05	3.854e-05	2.69e-05	4.826e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	4.826e-05	0	0	0	0	0	0	4.409e-05	0	0	0.442	0.09346	T	0.18	0.29442	T	0.052	0.22494	B	0.007	0.12992	B	0.049390	0.01998	N	2.529250	1	0.19238	N	0.145	0.08828	N	0.13	0.60973	T	1.17	0.01121	N	0.227	0.25499	-1.0458	0.15592	T	0.071	0.28969	T	10	0.050749153	0.04854	T	0.018597	0.40717	T	0.031	0.07369	0.24	0.17218	0.436239592564	0.43243	0.061101900890250554	0.06050	0.147818603967	0.16675	0.249918758869	0.03759	T	0.029711	0.21228	T	-0.328553	0.06221	T	-0.512077	0.21101	T	0.0129890150222215	0.00225	T	0.515049	0.16594	T	0.013240479	0.00053	0.022885373	0.00307	0.013240479	0.00053	0.022885373	0.00306	-3.366	0.14602	T	.	.	0.234	0.50880	B	.;.	.;.	0.273784	0.06514	2.993	0.22766371063056065	0.00931	0.25434	0.22697	N	AEFDBCI	0.059352	0.11204	N	-1.12205456769005	0.06252	0.2873115	-1.05074997652257	0.08692	0.4285993	0.999947506372907	0.47345	0.634777	0.41761	0	0.610034	0.51514	0	0.723109	0.80598	0	0.645665	0.59343	0	.	.	4.91	-0.953	0.09834	0.836000	0.27198	.	.	-0.171000	0.11205	0.948000	0.32982	0.000000	0.08366	0.057000	0.15750	0.3047:0.2601:0.0:0.4352	3.682	0.07847	712	0.56465	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	118.55	33	chr11	124878634	.	C	T	118.55	.	AC=2;AF=0.143;AN=14;DP=220;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=23.71;SOR=1.022	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1191	6	1	0	0
chr11	124887133	124887133	G	A	exonic	ROBO4	.	nonsynonymous SNV	ROBO4:NM_001301088:exon15:c.C1844T:p.P615L,ROBO4:NM_019055:exon15:c.C2279T:p.P760L	.	397	1095	27	3	0	33	0.0148448	.	.	.	2852051	ROBO4-related_disorder|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	.|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.068	.	0.0038	0.0061901	0.0052	0.0004	0.0029	0.0003	0.0011	0.0045	0.0092	0.0169	0.0049999	773	154602	rs146276743	0.0050	0.0050	0.0045	0.0055	0.0171	0.0049	0.0049	0.0164	0.0161	0.0007	0.0022	0.0136	7.557e-05	0.0019	0.0080	0.0044	0.0061	0.0171	0.0039	0.0039	0.0038	0.0039	0.0137	0.0036	0.0035	0.0110	0.0101	0.0008	0	0.0039	0.0141	0.0004	0.0008	0.0034	0.0053	0.0052	0.0137	0.124	0.34621	T	0.056	0.46632	T	0.001	0.07471	B	0.001	0.04355	B	0.857056	0.07093	N	1.099000	0.961538	0.28344	N	1.095	0.27400	L	-0.09	0.64086	T	-0.72	0.38540	N	0.095	0.13055	-0.9629	0.38625	T	0.126	0.43194	T	10	0.0053919554	0.00118	T	.	.	.	0.068	0.19811	.	.	0.726765420178	0.72434	0.4307432230054054	0.42991	0.311846561494	0.33486	0.324699938297	0.14132	T	0.076017	0.35318	T	-0.545079	0.00312	T	-0.541465	0.18154	T	0.00982392410411275	0.00129	T	0.768023	0.39669	T	0.059982676	0.12254	0.053915348	0.09172	0.06661468	0.14349	0.053915348	0.09171	-3.713	0.19510	T	0.2919736196309515	0.38863	0.092	0.13503	B	.;.	.;.	2.522208	0.32594	19.09	0.9924386738709855	0.56630	0.61351	0.31459	D	AEFDBCI	0.176861	0.30409	N	-0.570417262163298	0.19849	1.041997	-0.497944637819832	0.22211	1.205256	0.998964941772589	0.38084	0.722319	0.85440	0	0.59043	0.45803	0	0.59043	0.30614	0	0.735409	0.98432	0	.	.	4.35	3.44	0.38486	1.090000	0.30514	.	.	0.674000	0.70861	0.876000	0.30908	1.000000	0.68203	0.033000	0.13494	0.103:0.0:0.897:0.0	9.307	0.37040	711	0.56613	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.000000	0.004076	0.002924	0.000000	0.008621	0.012195	0.030303	0.07143	793.63	36	chr11	124887133	.	G	A	793.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.09;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=0.805;SOR=0.731	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr11	124896641	124896641	G	A	exonic	ROBO4	.	nonsynonymous SNV	ROBO4:NM_019055:exon3:c.C430T:p.R144W	.	.	.	.	.	.	.	.	.	.	.	2852054	Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.348	0.0847009561159	0.0011	0.000599042	0.0002	0.0027	0	0.0001	0	1.518e-05	0	0	0.0002393	37	154602	rs112424754	8.209e-05	8.209e-05	9.393e-05	7.013e-05	0.0023	7.002e-05	6.552e-05	0.0019	0.0018	0.0023	6.709e-05	0	0.0003	0	0	1.169e-05	0.0002	2.319e-05	0.0009	0.0009	0.0008	0.0009	0.0030	0.0007	0.0007	0.0026	0.0024	0.0030	0	6.533e-05	0	0.0006	0	0	0	0.0005	0	0.01	0.56456	D	0.01	0.65728	D	0.964	0.55854	D	0.536	0.48739	P	0.590220	0.05587	N	1.296710	0.999707	0.48408	D	2.905	0.84014	M	-0.37	0.68892	T	-2.06	0.47175	N	0.386	0.42737	-0.4580	0.70135	T	0.360	0.72178	T	10	0.034432143	0.01652	T	0.084701	0.74380	D	0.348	0.66956	.	.	0.839621494985	0.83809	0.5263966493640964	0.52563	0.381747276443	0.39521	0.204213440418	0.00589	T	0.54083	0.84275	D	-0.359603	0.04152	T	-0.293625	0.45395	T	0.191553948462089	0.19936	T	0.852015	0.53695	D	0.07623025	0.17225	0.08222913	0.18749	0.07623025	0.17225	0.08222913	0.18749	-6.882	0.53166	T	0.3223709994472205	0.42051	0.119	0.24329	B	.	.	5.816692	0.93679	33	0.99909018666284133	0.97875	0.75918	0.37197	D	AEFDBCI	0.615659	0.60251	D	0.494252024150094	0.66751	4.991105	0.484554742458855	0.66965	5.021357	0.999999659765631	0.74766	0.542737	0.22433	0	0.610034	0.51514	0	0.547309	0.15389	0	0.638787	0.57140	0	.	.	5.82	5.82	0.92740	2.598000	0.45887	.	.	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.601000	0.31412	0.0796:0.0:0.7599:0.1606	7.962	0.29238	714	0.56256	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1420.44	35	chr11	124896641	.	G	A	1420.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.57;DP=269;ExcessHet=0;FS=3.188;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.54;ReadPosRankSum=0.542;SOR=1.179	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1253	6	0	1	0
chr11	125672681	125672681	T	A	exonic	ACRV1	.	nonsynonymous SNV	ACRV1:NM_001612:exon4:c.A710T:p.N237I,ACRV1:NM_020069:exon4:c.A653T:p.N218I,ACRV1:NM_020107:exon5:c.A545T:p.N182I,ACRV1:NM_020108:exon5:c.A500T:p.N167I	.	418	1065	38	1	0	40	0.0184332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	.	0.0002	0.00579073	0.0036	0	0.0010	0	0	0.0005	0.0044	0.0236	0.0030983	479	154602	rs184197662	0.0017	0.0017	0.0010	0.0025	0.0240	0.0017	0.0017	0.0232	0.0228	8.961e-05	0.0008	0	0	1.873e-05	0.0097	0.0002	0.0019	0.0240	0.0011	0.0011	0.0006	0.0015	0.0251	0.0009	0.0009	0.0214	0.0201	0	0	0.0005	0	0	0	0	0.0004	0.0009	0.0251	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.011998	0.29328	N	0.291061	0.656204	0.81001	D	1.905	0.50856	L	1.57	0.29342	T	-5.14	0.88630	D	0.522	0.64818	-0.7813	0.56229	T	0.147	0.47219	T	10	0.00742808	0.00169	T	.	.	.	0.184	0.45763	.	.	0.472023113445	0.46832	0.9534485741236809	0.95328	0.960301610964	0.72978	0.589977860451	0.51490	T	0.264658	0.63646	T	-0.342706	0.05203	T	-0.246796	0.50133	T	0.0914855388333716	0.11393	T	0.834017	0.50357	T	0.49996746	0.67093	0.6530602	0.79694	0.49996746	0.67094	0.6530602	0.79695	-6.564	0.50778	T	.	.	0.853	0.80271	P	.;.;.;.	.;.;.;.	3.751031	0.53764	23.4	0.99148411535129477	0.53737	0.56114	0.30034	D	AEFBI	0.169485	0.29632	N	0.342899889016158	0.58365	4.008343	0.240965533976628	0.52137	3.390609	0.109473373003907	0.16608	0.372202	0.05800	0	0.546412	0.12157	0	0.514364	0.09456	0	0.52698	0.09003	0	.	.	4.26	1.85	0.24418	1.054000	0.30064	1.183000	0.24710	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1028:0.1966:0.7006	4.508	0.11307	491	0.76657	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.018939	0.07143	1137.46	33	chr11	125672681	.	T	A	1137.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.074;DP=281;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-1.646;SOR=0.627	GT:AD:DP:GQ:PL	0/1:52,48:100:99:1148,0,1249	6	0	1	0
chr11	126292488	126292488	C	T	exonic	TIRAP	.	stopgain	TIRAP:NM_001318776:exon4:c.C79T:p.Q27X,TIRAP:NM_001318777:exon4:c.C79T:p.Q27X,TIRAP:NM_001039661:exon5:c.C79T:p.Q27X,TIRAP:NM_148910:exon5:c.C79T:p.Q27X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0002	0	0.0002	0	0	0.0004	0	0	0.0001811	28	154602	rs202146623	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	2.987e-05	0.0003	0.0003	0	1.873e-05	0.0003	0.0001	0.0001	0	0.0002	0.0002	0.0002	0.0003	0.0012	0.0001	0.0001	0.0008	0.0007	4.837e-05	0	0.0012	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.005218	0.32996	N	0.212694	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.866	0.86297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36676	0.87770	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.	.;High;.	8.357252	0.97468	37	0.99790957678646652	0.87661	0.96112	0.67588	D	AEFDBI	0.121265	0.23584	N	0.875608795935587	0.90516	10.43876	0.701172503700621	0.82466	7.774	0.99977679991647	0.42865	0.660377	0.49826	0	0.71359	0.82159	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	5.27	5.27	0.73797	1.654000	0.36950	3.922000	0.40477	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.563000	0.30483	0.1436:0.8564:0.0:0.0	14.931	0.70561	807	0.43470	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	175.44	35	chr11	126292488	.	C	T	175.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.133;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.95;ReadPosRankSum=0;SOR=0.941	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1337	6	0	1	0
chr11	128840209	128840209	C	T	exonic	KCNJ1	.	nonsynonymous SNV	KCNJ1:NM_000220:exon2:c.G92A:p.R31H,KCNJ1:NM_153764:exon2:c.G35A:p.R12H,KCNJ1:NM_153765:exon3:c.G86A:p.R29H,KCNJ1:NM_153766:exon3:c.G35A:p.R12H,KCNJ1:NM_153767:exon4:c.G35A:p.R12H	Bartter syndrome, type 2, Autosomal recessive	0	1514	8	0	0	8	0.00263505	.	.	.	326471	not_provided|Bartter_disease_type_2	MedGen:C3661900|MONDO:MONDO:0009424,MedGen:C1855849,OMIM:241200,Orphanet:112,Orphanet:620220	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.246	0.0460268457797	.	0.000199681	0.0002	0	0	0	0	4.496e-05	0	0.0015	0.000207	32	154602	rs566704910	0.0001	0.0001	0.0001	0.0002	0.0019	0.0001	0.0001	0.0016	0.0016	0	0	3.826e-05	0	0	0.0017	1.529e-05	0.0003	0.0019	9.852e-05	9.843e-05	7.711e-05	0.0001	0.0027	6.004e-05	4.878e-05	0.0016	0.0013	0	0	6.539e-05	0	0	0	0	1.47e-05	0	0.0027	0.739	0.04629	T	0.7	0.05727	T	0.0	0.02946	B	0.0	0.01387	B	0.128955	0.02792	U	2.062200	1	0.08975	N	-1.525	0.00485	N	-2.61	0.94621	D	0.65	0.03407	N	0.054	0.04426	-0.3524	0.73484	T	0.621	0.86634	D	10	0.008011937	0.00182	T	0.046027	0.62262	D	0.246	0.55340	0.551	0.66716	0.45783149361	0.45410	0.6071759400858646	0.60649	0.0386463307978	0.04113	0.205266654491	0.00626	T	0.281217	0.65394	T	-0.342922	0.05188	T	-0.272624	0.47554	T	0.0128112898808513	0.00218	T	0.765423	0.39305	T	0.020394236	0.00597	0.035258166	0.02744	0.019188985	0.00445	0.0342259	0.02453	-5.046	0.37336	T	.	.	0.086	0.10449	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.416597	0.02152	0.208	0.14078679226677732	0.00298	0.00546	0.02508	N	AEFBI	0.044877	0.07272	N	-1.24024651808761	0.04429	0.199891	-1.23956307757506	0.05288	0.2515665	0.992248289069147	0.32771	0.553676	0.25195	0	0.624146	0.53433	0	0.618467	0.43123	0	0.677038	0.66255	0	.	.	5.52	-2.15	0.06705	-0.146000	0.10233	-3.593000	0.02671	-0.176000	0.10722	0.001000	0.13787	0.000000	0.08366	0.015000	0.10482	0.0:0.0994:0.0:0.9006	14.963	0.70822	415	0.81806	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	2069.46	34	chr11	128840209	.	C	T	2069.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.131;DP=350;ExcessHet=0;FS=0.624;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=1.03;SOR=0.631	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	6	0	1	0
chr11	128937755	128937755	-	C	exonic	TP53AIP1	.	frameshift insertion	TP53AIP1:NM_001195194:exon1:c.63dupG:p.Q22Afs*77,TP53AIP1:NM_001195195:exon2:c.63dupG:p.Q22Afs*114,TP53AIP1:NM_001251964:exon2:c.63dupG:p.Q22Afs*32,TP53AIP1:NM_022112:exon2:c.63dupG:p.Q22Afs*81	.	347	1169	6	0	0	6	0.00255973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0042	0.00239617	0.0044	0.0008	0.0022	0	0.0024	0.0071	0.0033	0.0005	0.003965	613	154602	rs141395772	0.0049	0.0049	0.0050	0.0047	0.0058	0.0048	0.0048	0.0057	0.0056	0.0009	0.0024	0.0063	2.519e-05	0.0020	0.0033	0.0058	0.0039	0.0005	0.0038	0.0038	0.0040	0.0035	0.0066	0.0035	0.0034	0.0061	0.0059	0.0013	0	0.0012	0.0066	0	0.0013	0.0102	0.0066	0.0028	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003528	0.005102	0.002717	0.005848	0.000000	0.000000	0.009146	0.000000	0.07143	649.42	33	chr11	128937755	.	G	GC	649.42	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.66;DP=242;ExcessHet=0;FS=4.104;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.286;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,102,1429:.	6	0	1	0
chr11	130428225	130428225	A	0	exonic	ADAMTS8	.	.	.	.	0	70	1	0	155	156	0.0070922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	44.96	9	chr11	130428225	.	A	*	44.96	.	AC=5;AF=0.357;AN=14;BaseQRankSum=1.59;DP=106;ExcessHet=1.4958;FS=1.17;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=0.96;ReadPosRankSum=1.73;SOR=0.474	GT:AD:DP:GQ:PL	0/1:8,2:10:60:60,0,327	3	1	3	0
chr11	130428225	130428225	-	GCG	exonic	ADAMTS8	.	nonframeshift insertion	ADAMTS8:NM_007037:exon1:c.61_62insCGC:p.L20_L21insP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	.	.	0	0	.	0	2.59e-05	4	154602	rs577034799	0.0009	0.0003	0.0009	0.0010	0.0121	0.0008	0.0008	0.0057	0.0040	0	0.0112	0.0014	0	0	0.0121	0.0010	0.0009	0	0.0007	0.0007	0.0007	0.0007	0.0041	0.0005	0.0004	0.0021	0.0015	0.0002	0	0.0041	0.0024	0	0	0	0.0013	0.0020	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	44.96	9	chr11	130428225	.	A	AGCG	44.96	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.59;DP=106;ExcessHet=1.4958;FS=1.17;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.96;ReadPosRankSum=1.73;SOR=0.474	GT:AD:DP:GQ:PL	0/0:8,0:10:60:60,84,418	6	0	1	0
chr11	134176317	134176317	C	A	exonic	NCAPD3	.	nonsynonymous SNV	NCAPD3:NM_001372069:exon23:c.G2677T:p.D893Y,NCAPD3:NM_001372065:exon24:c.G3091T:p.D1031Y,NCAPD3:NM_001372068:exon24:c.G3091T:p.D1031Y,NCAPD3:NM_015261:exon24:c.G3091T:p.D1031Y,NCAPD3:NM_001372070:exon26:c.G2677T:p.D893Y	.	425	1096	1	0	0	1	0.000455996	.	.	.	3346886	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.286	0.0365372726769	.	.	0.0002	0	0.0003	0	0	0.0001	0.0011	0.0011	0.0002005	31	154602	rs151063353	0.0001	0.0001	8.714e-05	0.0002	0.0011	0.0001	0.0001	0.0010	0.0009	0	0.0004	3.826e-05	0	0	0.0010	4.048e-05	0.0002	0.0011	0.0002	0.0002	0.0001	0.0002	0.0015	0.0001	0.0001	0.0007	0.0005	0	0	0.0007	0.0003	0	0	0	0.0001	0	0.0015	0.011	0.55530	D	0.017	0.60337	D	0.996	0.68779	D	0.942	0.67772	D	0.000656	0.42656	D	0.261800	0.999991	0.58761	D	2.045	0.56016	M	0.88	0.46028	T	-4.43	0.78135	D	0.62	0.63544	-0.7357	0.58673	T	0.239	0.60691	T	10	0.09835589	0.17778	T	0.036537	0.57053	D	0.286	0.60456	.	.	0.619591805948	0.61650	0.5221186637370352	0.52134	0.457583922942	0.45387	0.363830924034	0.19941	T	0.246163	0.61558	T	-0.23824	0.15574	T	-0.155525	0.58752	T	0.143683931342452	0.16588	T	0.840716	0.51656	T	0.23975277	0.46870	0.3424553	0.59971	0.23975277	0.46870	0.3424553	0.59971	-9.727	0.72261	D	.	.	0.190	0.40810	B	.;.	.;.	4.776486	0.77372	26.7	0.99573056453032838	0.72501	0.98611	0.84680	D	AEFDBI	0.475973	0.51959	N	0.658793083973564	0.76940	6.579782	0.67336449346805	0.80361	7.281878	0.999995981124371	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.04	6.04	0.98025	2.350000	0.43718	7.663000	0.64347	0.599000	0.40250	0.921000	0.31989	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	20.595	0.99442	763	0.50172	Condensin complex subunit 1, C-terminal;Condensin complex subunit 1, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1398.49	33	chr11	134176317	.	C	A	1398.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.272;DP=308;ExcessHet=0;FS=9.515;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.144;SOR=1.417	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1246	6	0	1	0
chr11	134359072	134359072	C	T	exonic	GLB1L2	.	nonsynonymous SNV	GLB1L2:NM_001370460:exon7:c.C664T:p.R222C,GLB1L2:NM_001370461:exon7:c.C664T:p.R222C,GLB1L2:NM_001370462:exon7:c.C664T:p.R222C,GLB1L2:NM_138342:exon7:c.C664T:p.R222C	.	.	.	.	.	.	.	.	.	.	.	3681205	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.273	0.324894195192	.	.	3.412e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs755604496	3.934e-05	4.173e-05	3.431e-05	4.442e-05	0.0004	3.074e-05	2.807e-05	0.0003	0.0003	0	2.327e-05	7.759e-05	0	0	0	1.538e-05	3.339e-05	0.0004	3.285e-05	3.283e-05	1.284e-05	5.381e-05	0.0004	1.261e-05	7.98e-06	7.282e-05	3.026e-05	0	0	0	0.0003	0	0	0	2.94e-05	0	0.0004	0.0	0.91255	D	0.025	0.56192	D	1.0	0.90584	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	0.955929	0.37949	D	2.77	0.80896	M	-4.77	0.98126	D	-7.63	0.95424	D	0.847	0.84609	1.100	0.99674	D	0.954	0.98491	D	10	0.8558073	0.84777	D	0.324894	0.91583	D	0.745	0.91198	0.599	0.72984	0.707775620182	0.70523	0.89463701660123	0.89434	0.751316181784	0.63800	0.518573820591	0.41424	T	0.663539	0.89932	D	0.146281	0.68919	D	0.286604	0.87477	D	0.948252439498901	0.62855	D	0.989679	0.96647	D	0.82241225	0.85383	0.6024307	0.76897	0.82241225	0.85385	0.6024307	0.76898	-11.859	0.84157	D	.	.	0.232	0.47105	B	.;.	.;.	4.591127	0.72620	25.9	0.99880889947926088	0.95733	0.84559	0.43642	D	AEFDBI	0.227319	0.35114	N	0.382271744794709	0.60462	4.235279	0.251115708100708	0.52714	3.44429	0.621620904412214	0.21890	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.567892	0.33627	0	.	.	4.72	2.66	0.30672	1.953000	0.39977	1.014000	0.23354	0.596000	0.33519	0.997000	0.40164	0.442000	0.24909	0.636000	0.32315	0.5304:0.4696:0.0:0.0	10.672	0.44961	970	0.06235	Glycoside hydrolase 35, catalytic domain;Glycoside hydrolase 35, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1418.44	132	chr11	134359072	.	C	T	1418.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.24;DP=325;ExcessHet=0;FS=2.214;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=1.76;SOR=0.678	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	6	0	1	0
chr12	66923	66923	A	G	exonic	IQSEC3	.	nonsynonymous SNV	IQSEC3:NM_001170738:exon1:c.A41G:p.Y14C	.	403	1104	15	0	0	15	0.00674764	.	.	.	702484	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.296	0.43870859083	.	.	0.0036	0.0064	0	0	0.0034	0.0055	0	0.0029	0.0004786	74	154602	rs182407328	0.0023	0.0051	0.0021	0.0026	0.0046	0.0023	0.0022	0.0038	0.0036	0.0005	0.0026	0.0048	9.147e-05	0.0014	0.0046	0.0022	0.0032	0.0042	0.0024	0.0048	0.0028	0.0019	0.0042	0.0022	0.0021	0.0038	0.0036	0.0009	0	0.0013	0.0026	0.0002	0.0004	0	0.0042	0.0014	0.0013	0.016	0.51853	D	0.001	0.83351	D	.	.	.	.	.	.	0.000020	0.00348	U	44.727500	0.974727	0.39128	D	2.02	0.55341	M	1.19	0.37578	T	-2.1	0.47852	N	0.722	0.72388	-1.0223	0.22965	T	0.054	0.22693	T	8	0.054054618	0.05695	T	0.438709	0.94123	D	0.296	0.61616	.	.	0.602354408032	0.59918	0.7746733903099785	0.77417	3.5385108973	0.99787	0.95681399107	0.99871	D	0.063062	0.32078	T	0.0432018	0.57464	T	-0.17572	0.56918	T	0.0529291941402622	0.06008	T	0.982102	0.93912	D	0.3015935	0.53047	0.352496	0.60826	0.3015935	0.53047	0.352496	0.60826	-7.057	0.54449	T	.	.	0.976	0.90447	P	.	.	5.120174	0.85639	28.7	0.99499855407407245	0.67973	0.11704	0.16808	N	ALL	0.853262	0.77021	D	0.227062552256713	0.52515	3.425	0.204611699852919	0.50104	3.205901	0.980017057935433	0.30088	0.443343	0.08805	1	0.573888	0.26702	0	0.666236	0.60216	0	0.562822	0.20929	0	.	.	3.68	3.68	0.41359	5.119000	0.64517	10.443000	0.83347	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	1.0:0.0:0.0:0.0	10.359	0.43163	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009639	0.011111	0.019231	0.000000	0.000000	0.008929	0.006897	0.000000	0.07143	359.46	45	chr12	66923	.	A	G	359.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.2;DP=286;ExcessHet=0;FS=7.289;MLEAC=1;MLEAF=0.071;MQ=56.39;MQRankSum=-9.456;QD=3.91;ReadPosRankSum=-1.018;SOR=1.623	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1194	6	0	1	0
chr12	125763	125763	C	T	exonic	IQSEC3	.	nonsynonymous SNV	IQSEC3:NM_001170738:exon3:c.C754T:p.R252W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	0.0019	0.000399361	0.0074	0.0046	0	0	0.0328	0.0144	0	0.0005	0.0016171	250	154602	rs201602741	0.0030	0.0029	0.0032	0.0028	0.0035	0.0029	0.0029	0.0034	0.0034	0.0007	0.0004	4.371e-05	5.642e-05	0.0059	0.0002	0.0035	0.0017	9.37e-05	0.0021	0.0021	0.0020	0.0022	0.0036	0.0019	0.0018	0.0032	0.0031	0.0004	0	0.0003	0.0003	0.0002	0.0038	0	0.0036	0.0014	0.0002	0.006	0.61437	D	0.188	0.28669	T	.	.	.	.	.	.	0.446060	0.04788	N	1.363960	1	0.81001	D	0.695	0.17993	N	2.83	0.10771	T	-1.46	0.35792	N	0.463	0.49965	-0.9605	0.39087	T	0.027	0.11618	T	8	0.006051123	0.00136	T	.	.	.	0.044	0.11924	.	.	0.216943180021	0.21308	0.20995897526207175	0.20911	1.15193762352	0.79231	0.682644844055	0.64648	T	0.020973	0.16414	T	-0.531665	0.00375	T	-0.537315	0.18561	T	0.0343610335570862	0.02699	T	0.508249	0.16142	T	0.1011847	0.23898	0.06771879	0.14048	0.1011847	0.23898	0.06771879	0.14048	-6.004	0.46313	T	.	.	0.104	0.18746	B	.	.	3.685048	0.52475	23.2	0.9988050582601663	0.95653	0.94474	0.61282	D	AEFDBI	0.684037	0.64651	D	0.0451312578493685	0.43918	2.675526	0.131446202045695	0.46166	2.867103	0.00136975850296746	0.08479	0.487112	0.14033	0	0.59043	0.45803	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	5.53	3.57	0.40014	1.177000	0.31578	2.664000	0.33900	-0.985000	0.01878	0.999000	0.42656	0.999000	0.35428	0.247000	0.23184	0.1489:0.7078:0.1433:0.0	10.637	0.44762	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001584	0.000000	0.002740	0.000000	0.050000	0.008772	0.000000	0.000000	0.07143	284.83	35	chr12	125763	.	C	T	284.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.692;DP=199;ExcessHet=0;FS=1.617;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=0.805;SOR=0.34	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1037	6	0	1	0
chr12	318262	318262	G	T	exonic	KDM5A	.	nonsynonymous SNV	KDM5A:NM_001042603:exon19:c.C2741A:p.P914Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.0428452975258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.562e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.061	0.37326	T	0.07	0.43721	T	0.993	0.65571	D	0.838	0.60045	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.93	0.51437	L	0.98	0.42122	T	-4.29	0.76414	D	0.561	0.58543	-0.7231	0.59309	T	0.223	0.58627	T	10	0.5399285	0.63661	D	0.042845	0.60676	D	0.280	0.59740	0.45	0.51121	0.184605227958	0.18053	0.38563763180842353	0.38478	0.220612890184	0.24604	0.621160387993	0.55893	T	0.276526	0.64911	T	-0.0344392	0.46768	T	-0.287246	0.46058	T	0.955062925815582	0.64416	D	0.917708	0.72522	D	0.3444305	0.56630	0.36088032	0.61522	0.3444305	0.56630	0.36088032	0.61522	-8.85	0.66726	D	.	.	0.199	0.42215	B	.;.	.;.	3.682017	0.52413	23.2	0.99023772880705485	0.50634	0.99655	0.98387	D	AEFGBI	0.848530	0.76535	D	0.539568429180236	0.69449	5.358498	0.508373073041458	0.68551	5.235879	0.999999999724834	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	6.398000	0.73168	9.944000	0.82678	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:1.0:0.0	18.476	0.90742	873	0.30802	Lysine-specific demethylase-like domain;Lysine-specific demethylase-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2323.44	42	chr12	318262	.	G	T	2323.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.18;DP=418;ExcessHet=0;FS=0.52;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-1.383;SOR=0.751	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	6	0	1	0
chr12	553246	553246	G	C	exonic	B4GALNT3	.	nonsynonymous SNV	B4GALNT3:NM_173593:exon14:c.G1323C:p.E441D	.	427	1038	55	2	0	59	0.0276347	.	.	.	702400	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.057	.	0.0059	0.00519169	0.0068	0.0022	0.0042	0	0.0005	0.0064	0.0079	0.0191	0.0065458	1012	154602	rs35419938	0.0063	0.0063	0.0059	0.0068	0.0229	0.0062	0.0062	0.0197	0.0185	0.0024	0.0040	0.0172	2.519e-05	0.0005	0.0229	0.0057	0.0076	0.0190	0.0051	0.0051	0.0051	0.0052	0.0174	0.0048	0.0047	0.0144	0.0133	0.0017	0	0.0040	0.0184	0	0.0007	0.0306	0.0069	0.0080	0.0174	0.17	0.28646	T	0.445	0.18449	T	0.001	0.22967	B	0.001	0.18140	B	0.054444	0.22724	N	0.513490	0.694362	0.33358	D	1.965	0.53209	M	3.47	0.33412	T	-0.71	0.20145	N	0.113	0.10056	-1.0298	0.20519	T	0.027	0.11485	T	10	0.003033489	0.00050	T	.	.	.	0.057	0.16321	0.061	0.00225	0.26547132957	0.26150	0.3320672336054664	0.33119	0.137519854837	0.15505	0.303518891335	0.10928	T	0.008035	0.10465	T	-0.55733	0.00263	T	-0.559063	0.16465	T	0.00424846492393013	0.00045	T	0.516848	0.17735	T	0.07017605	0.15436	0.050029136	0.07768	0.07017605	0.15436	0.050029136	0.07767	-4.023	0.24147	T	.	.	0.080	0.11220	B	.;.	.;.	0.637848	0.10061	6.812	0.98851990051414873	0.47305	0.06048	0.12017	N	AEFBI	0.067716	0.13326	N	-0.769882621636174	0.14100	0.6996357	-0.690678665284384	0.17193	0.9131054	0.993072403822061	0.33075	0.695654	0.57023	0	0.475579	0.06741	0	0.723109	0.80598	0	0.63947	0.58350	0	.	.	5.43	1.79	0.23992	0.007000	0.13074	0.008000	0.13396	0.676000	0.76740	0.008000	0.17931	0.003000	0.18671	0.309000	0.24713	0.2545:0.172:0.5735:0.0	4.755	0.12456	804	0.43891	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.020141	0.010101	0.019022	0.035088	0.050000	0.034483	0.018293	0.015152	0.07143	733.83	31	chr12	553246	.	G	C	733.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.171;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-0.092;SOR=0.652	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1148	6	0	1	0
chr12	553529	553529	C	T	exonic	B4GALNT3	.	nonsynonymous SNV	B4GALNT3:NM_173593:exon14:c.C1606T:p.H536Y	.	410	1055	55	2	0	59	0.0272015	.	.	.	702401	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.102	.	0.0058	0.00519169	0.0068	0.0022	0.0042	0	0.0005	0.0064	0.0078	0.0191	0.0066429	1027	154602	rs151321644	0.0063	0.0063	0.0059	0.0068	0.0229	0.0062	0.0062	0.0197	0.0185	0.0024	0.0040	0.0172	2.519e-05	0.0005	0.0229	0.0057	0.0076	0.0190	0.0051	0.0051	0.0051	0.0052	0.0172	0.0048	0.0047	0.0142	0.0131	0.0017	0	0.0040	0.0184	0	0.0007	0.0306	0.0068	0.0080	0.0172	0.698	0.07163	T	0.151	0.35205	T	0.002	0.43260	B	0.001	0.32841	B	0.064754	0.02181	N	1.800440	1	0.08975	N	1.355	0.33814	L	3.47	0.32958	T	-1.58	0.42001	N	0.204	0.22614	-1.0050	0.28457	T	0.025	0.10910	T	10	0.0034027994	0.00060	T	.	.	.	0.102	0.29158	.	.	0.33340067248	0.32956	0.23042138291317035	0.22957	0.216515701183	0.24171	0.293155878782	0.09383	T	0.006203	0.17282	T	-0.508331	0.00513	T	-0.488679	0.23528	T	0.0223731037280573	0.00951	T	0.50185	0.15733	T	0.052662954	0.09854	0.04470011	0.05851	0.052662954	0.09853	0.04470011	0.05851	-4.482	0.30652	T	.	.	0.074	0.07650	B	.;.	.;.	2.071965	0.26352	17.09	0.71380471459127814	0.09609	0.41381	0.26644	N	AEFDGBCI	0.100164	0.20147	N	-0.81097235367886	0.13029	0.6390703	-0.773372746637339	0.15149	0.7952879	0.999988630867901	0.51787	0.718356	0.82227	0	0.491552	0.07993	0	0.570548	0.19454	0	0.620976	0.48614	0	.	.	5.47	3.57	0.40014	4.056000	0.57161	3.976000	0.40865	0.580000	0.29708	0.771000	0.29368	0.735000	0.26442	0.002000	0.04165	0.2924:0.6219:0.0:0.0858	6.671	0.22260	804	0.43891	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019637	0.010101	0.019022	0.035088	0.050000	0.034483	0.015244	0.015152	0.07143	1477.46	34	chr12	553529	.	C	T	1477.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.691;DP=313;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=0.96;SOR=0.67	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1316	6	0	1	0
chr12	1490094	1490094	T	-	exonic	ERC1	.	frameshift deletion	ERC1:NM_178039:exon18:c.3131delT:p.Q1045Rfs*4,ERC1:NM_178040:exon19:c.3215delT:p.Q1073Rfs*4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.567e-06	1.285e-05	0	6.543e-05	0	0	.	.	0	0	6.543e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	43.4	34	chr12	1490093	.	CT	C	43.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.2;ReadPosRankSum=-1.068;SOR=0.446	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1303	6	0	1	0
chr12	2688580	2688580	G	A	exonic	CACNA1C	.	nonsynonymous SNV	CACNA1C:NM_001129837:exon45:c.G5942A:p.R1981Q,CACNA1C:NM_001129838:exon45:c.G5942A:p.R1981Q,CACNA1C:NM_001129839:exon45:c.G5936A:p.R1979Q,CACNA1C:NM_001129846:exon45:c.G5885A:p.R1962Q,CACNA1C:NM_000719:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001129829:exon46:c.G6041A:p.R2014Q,CACNA1C:NM_001129833:exon46:c.G5975A:p.R1992Q,CACNA1C:NM_001129834:exon46:c.G5975A:p.R1992Q,CACNA1C:NM_001129835:exon46:c.G5975A:p.R1992Q,CACNA1C:NM_001129836:exon46:c.G5969A:p.R1990Q,CACNA1C:NM_001129840:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001129841:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001129842:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001129843:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001129844:exon46:c.G5909A:p.R1970Q,CACNA1C:NM_001167623:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001167625:exon46:c.G6098A:p.R2033Q,CACNA1C:NM_001129830:exon47:c.G6023A:p.R2008Q,CACNA1C:NM_001129831:exon47:c.G6002A:p.R2001Q,CACNA1C:NM_001129832:exon47:c.G5978A:p.R1993Q,CACNA1C:NM_001167624:exon47:c.G6023A:p.R2008Q,CACNA1C:NM_001129827:exon48:c.G6062A:p.R2021Q,CACNA1C:NM_199460:exon49:c.G6167A:p.R2056Q	Brugada syndrome 3;Timothy syndrome, Autosomal dominant	0	1472	48	2	0	52	0.0173565	.	.	.	99326	Long_QT_syndrome|not_provided|Short_QT_syndrome|CACNA1C-related_disorder|Cardiovascular_phenotype|not_specified	MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:C3661900|MONDO:MONDO:0000453,MedGen:C2348199,OMIM:PS609620,Orphanet:51083|.|MedGen:CN230736|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.183	.	0.0017	0.00319489	0.0036	0.0002	0.0013	0.0001	0.0003	0.0021	0.0045	0.0162	0.0030918	478	154602	rs112414325	0.0023	0.0023	0.0019	0.0028	0.0156	0.0023	0.0022	0.0149	0.0146	0.0002	0.0014	0.0127	0	5.623e-05	0.0080	0.0013	0.0036	0.0156	0.0020	0.0020	0.0016	0.0023	0.0180	0.0018	0.0017	0.0150	0.0138	0.0004	0	0.0018	0.0135	0.0002	0	0.0102	0.0016	0.0043	0.0180	0.484	0.09776	T	0.586	0.11551	T	0.032	0.58535	B	0.005	0.52168	B	0.433660	0.12716	N	0.733016	0.999909	0.52935	D	.	.	.	0.53	0.55090	T	-0.51	0.18459	N	0.317	0.36674	-0.9378	0.42963	T	0.158	0.49060	T	10	0.006121576	0.00138	T	.	.	.	0.183	0.45592	.	.	0.774745351775	0.77267	0.42943405207208213	0.42860	0.220456262239	0.24588	0.339064538479	0.16298	T	0.005257	0.06762	T	-0.393694	0.02546	T	-0.325967	0.41916	T	0.0125000085483832	0.00207	T	.	.	.	.	.	.	.	.	.	.	.	-4.262	0.27641	T	.	.	0.1	0.20469	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.453092	0.48089	22.6	0.82543286476877942	0.14247	0.95520	0.65048	D	AEFDBI	0.740151	0.68449	D	-0.310102523607895	0.28764	1.589257	-0.162370008803943	0.32934	1.878767	0.999316768921301	0.39113	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.97	4.97	0.65419	2.576000	0.45698	1.641000	0.27792	0.586000	0.30580	1.000000	0.71638	0.947000	0.28924	0.652000	0.32748	0.0797:0.0:0.9203:0.0	12.655	0.56145	861	0.33516	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.002717	0.000000	0.000000	0.025862	0.018293	0.007576	0.1429	1678.24	141	chr12	2688580	.	G	A	1678.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.618;DP=330;ExcessHet=0.3476;FS=1.258;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=1.71;SOR=0.803	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	2	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N,DYRK4:NM_001371301:exon5:c.G426C:p.K142N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0114393036777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.479e-06	0.0002	5.452e-06	5.506e-06	1.16e-05	2.36e-06	1.7e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.303e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.401	0.14961	T	0.346	0.33564	B	0.084	0.29270	B	0.121393	0.18998	N	0.456574	1	0.08975	N	1.725	0.44537	L	-0.08	0.63911	T	0.73	0.02068	N	0.144	0.14480	-0.9982	0.30423	T	0.134	0.44720	T	10	0.07988778	0.12903	T	0.011439	0.29067	T	0.029	0.06676	0.269	0.21735	0.558735321446	0.55534	0.18653166389102285	0.18571	0.09495456672	0.10722	0.417934507132	0.27553	T	9.22E-4	0.00478	T	-0.259265	0.12987	T	-0.610193	0.11969	T	0.123014807701111	0.14722	T	0.59544	0.22079	T	0.04078166	0.05886	0.040100157	0.04256	0.04078166	0.05886	0.040100157	0.04256	-4.202	0.26780	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	0.165782	0.05554	2.014	0.79475724993608643	0.12759	0.01358	0.04650	N	AEFDBI	0.066344	0.12987	N	-1.06848562840135	0.07230	0.3352268	-1.19599880480459	0.05976	0.2863112	2.00585938924982E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-2.7	0.05651	-0.445000	0.06918	0.067000	0.14209	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.446000	0.27806	0.499:0.1481:0.3529:0.0	5.450	0.15851	834	0.38640	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	1125.34	42	chr12	4591261	.	G	C	1125.34	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.171;DP=375;ExcessHet=3.1439;FS=570.035;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=4.69;ReadPosRankSum=0.45;SOR=9.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:44,32:80:99:.:.:390,0,413:.	2	0	4	1
chr12	4591262	4591262	T	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.T82C:p.S28P,DYRK4:NM_001371301:exon5:c.T427C:p.S143P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00440886597753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.577e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.11406	T	0.313	0.19539	T	0.0	0.02946	B	0.0	0.01387	B	0.235795	0.03549	N	1.561320	1	0.08975	N	-0.805	0.01590	N	-0.1	0.64264	T	-0.27	0.11366	N	0.079	0.05414	-1.0842	0.06553	T	0.068	0.27743	T	10	0.039215803	0.02395	T	0.004409	0.10781	T	0.089	0.25827	0.325	0.30711	0.42526943336	0.42144	0.11389244541155054	0.11317	0.101335283325	0.11470	0.327304363251	0.14527	T	7.42E-4	0.00347	T	-0.283232	0.10329	T	-0.644619	0.09335	T	0.190787822008133	0.19891	T	0.451055	0.13062	T	0.044260852	0.07044	0.05666178	0.10162	0.044260852	0.07043	0.05666178	0.10161	-3.8	0.20805	T	.	.	0.055	0.00397	B	.;.;.	.;.;.	0.139343	0.05334	1.822	0.72541810839383536	0.10010	0.00255	0.01401	N	AEFDBI	0.036495	0.04872	N	-1.57976836352683	0.01369	0.0596469	-1.57847201873377	0.01787	0.08134935	5.90958891872362E-4	0.07390	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-3.92	0.03880	-0.110000	0.10794	-0.393000	0.09462	-0.181000	0.10308	0.001000	0.13787	0.000000	0.08366	0.483000	0.28633	0.3313:0.3776:0.1218:0.1694	0.780	0.00973	834	0.38640	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	47.47	39	chr12	4591262	.	T	C	47.47	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.231;DP=340;ExcessHet=0;FS=146.769;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=0.504;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:61,20:81:7:.:.:0,7,1432:.	5	0	1	1
chr12	5732874	5732874	G	A	exonic	ANO2	.	nonsynonymous SNV	ANO2:NM_001278596:exon14:c.C1441T:p.R481C,ANO2:NM_001278597:exon14:c.C1429T:p.R477C	.	433	1065	23	1	0	25	0.0116009	.	.	.	713674	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.095	.	0.0010	0.0113818	0.0061	0.0011	0.0011	0.0257	0	0.0009	0.0034	0.0263	0.0055885	864	154602	rs149972273	0.0028	0.0028	0.0022	0.0035	0.0262	0.0028	0.0027	0.0249	0.0244	0.0010	0.0007	0.0005	0.0262	0.0002	0.0101	0.0004	0.0055	0.0252	0.0024	0.0024	0.0016	0.0031	0.0290	0.0022	0.0021	0.0251	0.0236	0.0008	0	0.0007	0.0003	0.0243	9.422e-05	0.0034	0.0005	0.0052	0.0290	0.08	0.33585	T	0.045	0.49390	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.08	0.63911	T	-0.54	0.16598	N	0.592	0.61172	-0.9495	0.41058	T	0.057	0.24092	T	9	0.0055063367	0.00122	T	.	.	.	0.095	0.27398	.	.	0.393316636838	0.38940	0.5105546854250924	0.50977	0.263660577288	0.28920	0.43979716301	0.30549	T	.	.	.	-0.375224	0.03338	T	-0.29081	0.45689	T	0.0356721344788682	0.02924	T	0.524548	0.17205	T	.	.	.	.	.	.	.	.	-11.015	0.79740	D	.	.	0.345	0.56278	A	.;.	.;.	2.618262	0.34018	19.51	0.99907671588646918	0.97801	0.73293	0.35854	D	AEFBI	0.439860	0.49866	N	0.256190215304296	0.53946	3.561518	0.317228485028781	0.56552	3.818653	0.998640109657231	0.37371	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	4.76	3.79	0.42757	2.892000	0.48323	6.148000	0.54152	0.676000	0.76740	1.000000	0.71638	0.998000	0.33993	0.992000	0.67800	0.0:0.0:0.8153:0.1847	11.908	0.52005	916	0.20744	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.000000	0.001359	0.011696	0.000000	0.000000	0.015244	0.022727	0.07143	1389.44	37	chr12	5732874	.	G	A	1389.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.54;DP=342;ExcessHet=0;FS=2.245;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0.55;SOR=0.515	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	6	0	1	0
chr12	5921309	5921309	G	A	exonic	ANO2	.	nonsynonymous SNV	ANO2:NM_001278596:exon3:c.C265T:p.R89C,ANO2:NM_001278597:exon3:c.C253T:p.R85C,ANO2:NM_001364791:exon3:c.C265T:p.R89C	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.122625540484	.	.	2.487e-05	0	0	0	0	4.499e-05	0	0	2.59e-05	4	154602	rs748302845	2.189e-05	2.189e-05	2.042e-05	2.338e-05	2.987e-05	1.584e-05	1.356e-05	1.543e-05	1.304e-05	2.987e-05	0	0	0	0	0	2.248e-05	8.282e-05	1.159e-05	3.286e-05	3.283e-05	3.854e-05	2.69e-05	0.0002	1.261e-05	7.98e-06	8e-06	2.99e-06	4.826e-05	0	6.547e-05	0	0.0002	0	0	1.47e-05	0	0	0.052	0.53900	T	0.051	0.50514	T	.	.	.	.	.	.	0.003403	0.34985	N	0.204069	0.998581	0.45122	D	.	.	.	-0.33	0.68329	T	-0.36	0.13035	N	0.449	0.59223	-0.7339	0.58766	T	0.247	0.61565	T	10	0.31477734	0.48915	T	0.122626	0.80364	D	0.237	0.54074	0.576	0.70087	0.431602765429	0.42780	0.3058286344039055	0.30495	0.3598936142	0.37679	0.468763411045	0.34509	T	0.071288	0.34172	T	-0.139921	0.29902	T	-0.331106	0.41345	T	0.777283847332001	0.44881	D	0.877312	0.59062	D	.	.	.	.	.	.	.	.	-4.035	0.24326	T	.	.	0.141	0.30868	B	.;.;.	.;.;.	4.095556	0.61034	24.3	0.99892863031964563	0.96666	0.79601	0.39476	D	AEFGBCI	0.519368	0.54468	D	0.194325834452823	0.50926	3.278173	0.164092798571547	0.47893	3.012853	0.0539332997054609	0.14955	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.636168	0.56350	0	.	.	5.05	3.09	0.34677	2.823000	0.47781	6.536000	0.55871	0.672000	0.70159	0.998000	0.41325	1.000000	0.68203	0.737000	0.35335	0.0986:0.2725:0.6289:0.0	6.858	0.23236	919	0.19497	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1035.44	76	chr12	5921309	.	G	A	1035.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.04;DP=270;ExcessHet=0;FS=4.508;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=0.005;SOR=1.269	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1055	6	0	1	0
chr12	6018491	6018491	C	T	exonic	VWF	.	nonsynonymous SNV	VWF:NM_000552:exon28:c.G4927A:p.G1643S	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive	1	1509	12	0	0	12	0.0039604	.	.	.	266164	not_provided|von_Willebrand_disease_type_1	MedGen:C3661900|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.162	0.160264547263	.	.	.	.	.	.	.	.	.	.	.	.	.	rs886042266	6.855e-07	0.0003	1.364e-06	0	2.55e-05	0	0	.	.	0	0	0	2.55e-05	0	0	0	0	0	3.987e-05	0.0014	2.595e-05	5.447e-05	0.0004	1.731e-05	1.14e-05	7.569e-05	3.132e-05	2.439e-05	0	0	0	0.0004	0	0	1.479e-05	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.007	0.12992	B	0.622881	0.10760	N	0.800246	1	0.08975	N	-0.17	0.04298	N	-1.62	0.82347	D	1.68	0.00591	N	0.056	0.02759	-0.8521	0.51823	T	0.228	0.59296	T	10	0.0630967	0.08169	T	0.160265	0.84030	D	0.162	0.41843	0.574	0.69826	0.21737058555	0.21362	0.5882981791414933	0.58759	0.267909689989	0.29325	0.333105444908	0.15402	T	0.327896	0.69836	T	-0.149613	0.28373	T	-0.452685	0.27400	T	0.0162144067542753	0.00395	T	0.853715	0.53946	D	0.14332709	0.32945	0.067866616	0.14099	0.14332709	0.32945	0.067866616	0.14098	-0.482	0.00573	T	0.05719184728934513	0.01374	0.078	0.06803	B	.	.	-0.013829	0.04188	1.016	0.13516923145724999	0.00269	0.05786	0.11720	N	AEFDGBCI	0.105980	0.21160	N	-1.06452504620559	0.07306	0.3389689	-0.996246155712722	0.09870	0.4935613	0.775192937279552	0.23740	0.67177	0.52595	0	0.563428	0.19063	0	0.547309	0.15389	0	0.711	0.71501	0	.	.	5.03	-0.85	0.10177	0.125000	0.15577	-0.736000	0.07640	0.594000	0.32500	0.020000	0.19661	0.000000	0.08366	0.282000	0.24066	0.0:0.348:0.0:0.652	8.238	0.30798	952	0.10565	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	150.46	35	chr12	6018491	.	C	T	150.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.448;DP=282;ExcessHet=0;FS=7.51;MLEAC=1;MLEAF=0.071;MQ=56.41;MQRankSum=-5.775;QD=4.3;ReadPosRankSum=0.416;SOR=2.27	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:56,0:56:99:.:.:0,120,1800:.	6	0	1	0
chr12	6123142	6123142	C	T	exonic	VWF	.	nonsynonymous SNV	VWF:NM_000552:exon2:c.G55A:p.G19R	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive	.	.	.	.	.	.	.	0.9960	0.85	YES	106309	von_Willebrand_disease_type_1|von_Willebrand_disease_type_3|not_specified|not_provided	MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903|MONDO:MONDO:0010191,MedGen:C1264041,OMIM:277480,Orphanet:166096|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.260	0.103347746697	.	0.000199681	0.0002	0	0	0	0	4.5e-05	0.0011	0.0009	0.0001358	21	154602	rs61753983	7.251e-05	7.251e-05	2.859e-05	0.0001	0.0011	6.114e-05	5.699e-05	0.0009	0.0008	0	0	0	7.557e-05	0	0.0002	7.194e-06	4.967e-05	0.0011	5.252e-05	5.249e-05	1.285e-05	9.399e-05	0.0012	2.555e-05	1.829e-05	0.0005	0.0004	0	0	0	0	0	0	0	2.94e-05	0	0.0012	0.002	0.72154	D	0.001	0.83351	D	0.952	0.54136	P	0.621	0.51426	P	0.068664	0.21657	N	0.248759	0.998325	0.81001	D	2.125	0.59049	M	1.23	0.36872	T	-0.87	0.23590	N	0.883	0.88137	-0.8378	0.52793	T	0.201	0.55766	T	10	0.4282223	0.57317	T	0.103348	0.77733	D	0.260	0.57221	0.738	0.87063	0.83683909362	0.83528	0.4535667984545484	0.45274	0.820355342577	0.67139	0.445899605751	0.31384	T	0.353069	0.72041	T	-0.194942	0.21536	T	-0.12162	0.61670	T	0.276956379413605	0.24043	T	0.839916	0.51465	T	0.22780865	0.45488	0.26353857	0.52162	0.25539348	0.48573	0.32671976	0.58576	-4.826	0.34893	T	.	.	0.142	0.31228	B	.	.	5.574601	0.92249	32	0.97485662904544224	0.34214	0.76198	0.37353	D	AEFBCI	0.842395	0.75951	D	0.456413400768772	0.64566	4.714286	0.391934291945737	0.61067	4.301773	0.999994556484715	0.74766	0.542737	0.22433	0	0.563428	0.19063	0	0.547309	0.15389	0	0.638787	0.57140	0	.	.	4.63	4.63	0.57175	3.242000	0.51082	7.068000	0.57430	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.328000	0.25156	0.0:1.0:0.0:0.0	13.166	0.58994	788	0.46569	von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	1413.63	34	chr12	6123142	.	C	T	1413.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.904;DP=285;ExcessHet=0;FS=1.468;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.465;SOR=0.56	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1241	6	0	1	0
chr12	6516981	6516981	C	T	exonic	NCAPD2	.	nonsynonymous SNV	NCAPD2:NM_014865:exon10:c.C1141T:p.R381W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.683	0.0836545471238	.	.	8.236e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs759487830	4.788e-06	4.788e-06	1.361e-06	8.25e-06	6.295e-06	1.99e-06	1.28e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.295e-06	0	0	6.574e-06	6.568e-06	1.285e-05	0	6.551e-05	0	0	.	.	0	0	6.551e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.205	0.89189	M	1.66	0.27486	T	-7.96	0.96342	D	0.975	0.98563	-0.5138	0.68146	T	0.222	0.58614	T	10	0.8671564	0.85965	D	0.083655	0.74162	D	0.683	0.88396	0.699	0.83592	0.493628743246	0.48995	0.827111162241432	0.82669	0.763659519793	0.64390	0.831634521484	0.86812	D	0.558248	0.85166	D	0.239199	0.77586	D	0.105816	0.77294	D	0.99815034866333	0.93375	D	0.90091	0.65583	D	0.86661375	0.88596	0.67712235	0.81038	0.86661375	0.88597	0.67712235	0.81038	-12.143	0.85541	D	.	.	0.921	0.84270	P	.;.	.;.	4.659227	0.74356	26.1	0.99918782674997086	0.98586	0.92175	0.55112	D	AEFDBI	0.721853	0.67197	D	0.431142585945395	0.63142	4.542358	0.305957826622625	0.55890	3.751775	0.434369576028067	0.20400	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	1.18	0.20058	1.543000	0.35754	0.972000	0.23065	0.599000	0.40250	0.994000	0.38300	0.999000	0.35428	0.998000	0.85391	0.4903:0.5097:0.0:0.0	14.935	0.70598	819	0.41190	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1636.44	114	chr12	6516981	.	C	T	1636.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.37;DP=302;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-0.233;SOR=0.703	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr12	6555836	6555836	G	A	exonic	IFFO1	.	nonsynonymous SNV	IFFO1:NM_001039670:exon1:c.C194T:p.A65V,IFFO1:NM_001193457:exon1:c.C194T:p.A65V,IFFO1:NM_001330324:exon1:c.C194T:p.A65V,IFFO1:NM_001330325:exon1:c.C194T:p.A65V,IFFO1:NM_080730:exon1:c.C194T:p.A65V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.463902733708	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1382148116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.586e-06	6.569e-06	1.288e-05	0	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	0.002	0.72154	D	0.0	0.92824	D	0.999	0.77913	D	0.996	0.84481	D	0.132764	0.02822	N	1.921010	1	0.81001	D	2.08	0.57402	M	0.71	0.51228	T	-1.73	0.41046	N	0.612	0.64648	-0.8356	0.52937	T	0.319	0.68874	T	10	0.66621745	0.70442	D	0.463903	0.94562	D	0.242	0.54781	0.22	0.14224	0.751335196791	0.74908	0.7495418996530608	0.74901	1.47234032679	0.86559	0.956198573112	0.99862	D	0.111901	0.42775	T	0.0981755	0.64096	D	-0.0967541	0.63648	T	0.974476218223572	0.70524	D	0.954005	0.82493	D	0.29800943	0.52725	0.42012402	0.65985	0.29800943	0.52725	0.42012402	0.65985	-7.898	0.60797	D	.	.	0.920	0.85593	P	.;.;.;.	.;.;.;.	5.673200	0.92950	33	0.9992904220942439	0.99279	0.97851	0.77605	D	AEFDGBCI	0.934707	0.92848	D	0.715919681592377	0.80676	7.347373	0.679102664921332	0.80797	7.378989	1.0	0.98316	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	4.33	4.33	0.51083	6.897000	0.75490	11.376000	0.92617	0.588000	0.31329	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	15.744	0.77692	658	0.62094	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	21	chr12	6555836	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=164;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1273	6	1	0	0
chr12	6826801	6826801	A	G	exonic	GPR162	.	nonsynonymous SNV	GPR162:NM_014449:exon5:c.A512G:p.Y171C,GPR162:NM_019858:exon5:c.A1364G:p.Y455C	.	417	1088	16	1	0	18	0.00820419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	.	.	0.0153754	0.0087	0.0003	0.0003	0	0	0.0002	0.0058	0.0702	0.0076648	1185	154602	rs200776021	0.0039	0.0040	0.0022	0.0056	0.0609	0.0038	0.0038	0.0595	0.0590	0.0002	0.0002	0.0005	0.0001	1.882e-05	0.0017	0.0002	0.0045	0.0609	0.0023	0.0023	0.0012	0.0035	0.0699	0.0021	0.0021	0.0638	0.0614	0.0002	0	0.0001	0.0006	0.0002	0	0	7.352e-05	0.0009	0.0699	0.011	0.55530	D	0.121	0.46182	T	0.964	0.55854	D	0.431	0.45421	B	.	.	.	.	0.924275	0.28162	N	0.975	0.24501	L	3.07	0.44856	T	-0.93	0.45769	N	0.222	0.34659	-1.0747	0.08410	T	0.073	0.29643	T	9	0.0024323761	0.00036	T	.	.	.	0.131	0.35738	.	.	0.705647642926	0.70308	0.36747106216787534	0.36661	0.0129100740628	0.01244	0.549777626991	0.45826	T	0.017868	0.14505	T	-0.388125	0.02765	T	-0.283955	0.46397	T	0.0392571802638366	0.03555	T	0.814119	0.47860	T	0.092583135	0.21723	0.097328715	0.23163	0.092583135	0.21723	0.097328715	0.23162	-3.257	0.13189	T	.	.	0.143	0.42706	B	.;.;.	.;.;.	3.280760	0.44954	22.0	0.97989335285926371	0.37386	0.90365	0.51483	D	AEFDBI	0.486598	0.52570	N	0.05883314964417	0.44549	2.726987	0.111857592802175	0.45154	2.783664	0.999996469712339	0.74766	0.700653	0.57754	0	0.596491	0.49125	0	0.717052	0.78885	0	0.604944	0.38103	0	.	.	4.24	4.24	0.49486	1.749000	0.37946	9.283000	0.79730	0.756000	0.94297	0.996000	0.39380	1.000000	0.68203	0.776000	0.36750	0.7533:0.0:0.0:0.2467	7.494	0.26650	549	0.72275	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.018939	0.07143	970.53	28	chr12	6826801	.	A	G	970.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.998;DP=286;ExcessHet=0;FS=0.884;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.117;SOR=0.843	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:57,0:57:99:.:.:0,120,1800:.	6	0	1	0
chr12	6967213	6967213	G	T	exonic	PHB2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.864e-07	6.84e-07	0	1.381e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1281.45	37	chr12	6967213	.	G	T	1281.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.064;DP=293;ExcessHet=0;FS=6.548;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-0.586;SOR=1.151	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr12	7089719	7089719	C	T	exonic	C1R	.	nonsynonymous SNV	C1R:NM_001354346:exon4:c.G481A:p.A161T,C1R:NM_001733:exon4:c.G439A:p.A147T	Ehlers-Danlos syndrome, periodontal type, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.30375	T	0.461	0.36901	T	0.085	0.24868	B	0.076	0.28435	B	0.010508	0.29895	N	0.278497	0.998432	0.44913	D	.	.	.	-1.61	0.92613	D	-0.55	0.22727	N	0.037	0.09207	-0.4533	0.70291	T	0.509	0.81537	D	9	0.1717329	0.31909	T	.	.	.	0.148	0.39182	0.485	0.56780	0.851824492466	0.85039	0.253742368127128	0.25288	.	.	0.348453998566	0.17694	T	0.020643	0.18916	T	0.0313628	0.55905	T	-0.192726	0.55334	T	0.700087487697601	0.40723	D	0.689731	0.32236	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.07083	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.011798	0.25564	16.81	0.79351670855620648	0.12702	0.43314	0.27070	N	AEFDBCI	0.654453	0.62713	D	-0.761265941448551	0.14329	0.7128863	-0.705396381340614	0.16827	0.8919407	0.999988064452671	0.51787	0.643511	0.44296	0	0.670034	0.63936	0	0.688494	0.62686	0	0.616125	0.45549	0	.	.	5.4	2.55	0.29757	0.792000	0.26590	0.580000	0.19696	0.549000	0.26987	0.807000	0.29812	0.270000	0.24042	0.797000	0.37605	0.0:0.7967:0.0:0.2033	10.641	0.44784	625	0.65529	.;.;EGF-like calcium-binding, conserved site|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding, conserved site|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding, conserved site|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding, conserved site|EGF-like calcium-binding domain;EGF-like calcium-binding, conserved site;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	996.44	70	chr12	7089719	.	C	T	996.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.103;DP=263;ExcessHet=0;FS=0.964;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-0.407;SOR=0.492	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1620	6	0	1	0
chr12	8059628	8059628	G	T	exonic	C3AR1	.	nonsynonymous SNV	C3AR1:NM_001326475:exon2:c.C558A:p.D186E,C3AR1:NM_001326477:exon2:c.C558A:p.D186E,C3AR1:NM_004054:exon2:c.C558A:p.D186E	.	420	1097	5	0	0	5	0.00227376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0205268407197	.	.	7.42e-05	9.677e-05	0	0	0	0	0	0.0005	5.82e-05	9	154602	rs61736562	2.941e-05	2.941e-05	6.806e-06	5.225e-05	0.0005	2.216e-05	1.97e-05	0.0003	0.0003	0	0	0	0	0	0.0002	8.993e-07	1.656e-05	0.0005	1.97e-05	1.968e-05	0	4.028e-05	0.0006	5.24e-06	2.45e-06	0.0002	9e-05	0	0	0	0	0	0	0	0	0	0.0006	0.166	0.23183	T	0.125	0.35330	T	0.011	0.15914	B	0.011	0.15521	B	.	.	.	.	0.999999	0.08975	N	0	0.06538	N	-0.56	0.71187	T	-1.27	0.31981	N	0.08	0.05542	-1.0222	0.22998	T	0.118	0.41385	T	9	0.053545564	0.05563	T	0.020527	0.43144	T	0.065	0.18881	0.504	0.59770	0.44711355012	0.44333	0.353672499406675	0.35281	0.0352992055262	0.03723	0.317698955536	0.13072	T	0.094721	0.39475	T	-0.395319	0.02484	T	-0.483658	0.24058	T	0.0234805703975543	0.01081	T	0.317868	0.06361	T	0.049032632	0.08643	0.04137633	0.04687	0.049032632	0.08643	0.04137633	0.04687	-4.197	0.26708	T	.	.	0.162	0.35767	B	.	.	0.312656	0.06877	3.411	0.81800958687200431	0.13866	0.11515	0.16685	N	AEFBI	0.128478	0.24626	N	-1.52058679301861	0.01714	0.07503919	-1.52181013148014	0.02177	0.09972328	0.996351395632851	0.34689	0.569682	0.32691	0	0.547309	0.14657	0	0.657636	0.52715	0	0.613276	0.41899	0	.	.	4.28	-1.25	0.08920	0.252000	0.18046	0.594000	0.19852	-0.868000	0.02581	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4196:0.163:0.4174:0.0	4.449	0.11035	929	0.16858	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	3993.02	37	chr12	8059628	.	G	T	3993.02	.	AC=2;AF=0.143;AN=14;DP=306;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=31.69;SOR=1.099	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1097	6	1	0	0
chr12	8539902	8539902	C	A	exonic	CLEC4E	.	nonsynonymous SNV	CLEC4E:NM_014358:exon2:c.G83T:p.G28V	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	.	7.7e-05	0.00259585	0.0009	9.658e-05	0	0	0	6.001e-05	0.0011	0.0061	0.0007956	123	154602	rs368572057	0.0004	0.0004	0.0003	0.0006	0.0067	0.0004	0.0004	0.0063	0.0061	2.989e-05	2.236e-05	0	0	0	0.0005	2.341e-05	0.0005	0.0067	0.0003	0.0003	0.0002	0.0004	0.0079	0.0002	0.0002	0.0059	0.0052	0	0	0	0	0.0002	0	0	4.412e-05	0	0.0079	1.0	0.59928	T	0.959	0.54541	T	0.931	0.51899	P	0.476	0.46961	P	0.007080	0.31620	N	0.144869	0.997357	0.43821	D	1.225	0.30651	L	4.29	0.36330	T	1.43	0.35597	N	0.445	0.60495	-1.0565	0.12646	T	0.033	0.14247	T	10	0.005397737	0.00119	T	.	.	.	0.213	0.50496	.	.	0.598386477769	0.59519	0.39503791895652574	0.39418	0.266669290768	0.29206	0.334035992622	0.15542	T	0.034591	0.23382	T	-0.41674	0.01795	T	-0.367389	0.37195	T	0.0432070787392041	0.04275	T	0.771723	0.40231	T	0.07759344	0.17622	0.07429538	0.16237	0.07759344	0.17621	0.07429538	0.16236	-2.683	0.07161	T	.	.	0.089	0.12276	B	.;.;.	.;.;.	1.570342	0.20107	14.59	0.9923447793242417	0.56342	0.24833	0.22515	N	AEFBI	0.073961	0.14811	N	-0.583518201186047	0.19446	1.017776	-0.593992747947288	0.19648	1.05517	0.99958913027499	0.40607	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.98	3.06	0.34374	1.183000	0.31651	2.480000	0.32936	0.599000	0.40250	0.098000	0.22752	0.985000	0.30750	0.016000	0.10718	0.0:0.7837:0.2163:0.0	9.504	0.38201	964	0.07719	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	1232.83	34	chr12	8539902	.	C	A	1232.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.475;DP=269;ExcessHet=0;FS=0.832;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=0.182;SOR=0.531	GT:AD:DP:GQ:PL	0/1:35,55:90:99:1243,0,813	6	0	1	0
chr12	8932637	8932637	-	TGA	exonic	PHC1	.	nonframeshift insertion	PHC1:NM_004426:exon8:c.1180_1181insTGA:p.V394_I395insM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.471e-05	0	0	0	0	0	0	0.0002	3.84e-05	1	26028	rs760554070	1.163e-05	1.915e-05	1.361e-06	2.2e-05	0.0002	7.09e-06	5.79e-06	0.0001	8.647e-05	0	2.236e-05	0	0	0	0	0	1.656e-05	0.0002	6.568e-06	1.313e-05	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	93.4	40	chr12	8932637	.	G	GTGA	93.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.11;DP=455;ExcessHet=0;FS=6.165;MLEAC=1;MLEAF=0.071;MQ=52.21;MQRankSum=-5.645;QD=0.37;ReadPosRankSum=-1.095;SOR=1.435	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1191	6	0	1	0
chr12	9922079	9922079	G	T	exonic	CLEC2A	.	nonsynonymous SNV	CLEC2A:NM_001130711:exon3:c.C293A:p.T98K,CLEC2A:NM_207375:exon3:c.C293A:p.T98K	.	444	1073	4	1	0	6	0.0027881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0034913386238	0.0011	.	0.0003	0.0004	0	0	0.0006	0.0005	0.0044	0	0.000194	30	154602	rs377012475	0.0012	0.0012	0.0012	0.0012	0.0025	0.0012	0.0011	0.0015	0.0014	0.0002	0.0004	8.002e-05	0	0.0002	0.0025	0.0014	0.0013	0.0002	0.0009	0.0009	0.0010	0.0007	0.0016	0.0007	0.0007	0.0013	0.0012	0.0003	0	0.0005	0	0	9.441e-05	0	0.0016	0.0010	0.0002	0.003	0.68238	D	0.011	0.66756	D	0.997	0.73220	D	0.963	0.74104	D	0.000205	0.47681	U	0.000000	1	0.08975	N	2.775	0.80997	M	2.17	0.19020	T	-3.96	0.76576	D	0.381	0.42247	-1.0409	0.17041	T	0.110	0.39651	T	10	0.05742243	0.06594	T	0.003491	0.07908	T	0.076	0.22200	.	.	0.300784259202	0.29686	0.34742831302101157	0.34656	.	.	0.440617889166	0.30661	T	0.04631	0.27386	T	-0.410078	0.01985	T	-0.386452	0.34967	T	0.0769138022795917	0.09588	T	0.558744	0.19484	T	0.78130627	0.82734	0.4801565	0.69893	0.78130627	0.82735	0.4801565	0.69893	-6.369	0.50877	T	.	.	0.397	0.59392	A	.;.	.;.	2.945829	0.39182	20.9	0.94607814164983239	0.25175	0.02169	0.06362	N	AEFBI	0.033935	0.04114	N	-0.209824253734382	0.32731	1.84917	-0.512593205950235	0.21811	1.181679	1.7562806951683E-6	0.01202	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.7	0.689	0.17197	1.600000	0.36372	0.787000	0.21533	0.526000	0.24426	0.044000	0.21163	0.065000	0.22112	0.006000	0.07323	0.1522:0.2536:0.5942:0.0	3.837	0.08409	887	0.27948	.;C-type lectin-like|C-type lectin-like|C-type lectin-like|Natural killer cell receptor-like, C-type lectin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	480.53	34	chr12	9922079	.	G	T	480.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.749;DP=230;ExcessHet=0;FS=2.398;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.9;ReadPosRankSum=0.995;SOR=1.085	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1106	6	0	1	0
chr12	10075503	10075503	C	A	splicing	CLEC1A	NM_001297749:exon2:c.267+1G>T;NM_016511:exon4:c.543+1G>T;NM_001297751:exon4:c.279+1G>T;NM_001297750:exon5:c.279+1G>T;NM_001297748:exon3:c.444+1G>T	.	.	.	.	.	.	.	.	.	.	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332283	0.85318	D	0.239525	0.85126	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.870096	0.79777	27.2	0.99401343927430619	0.62841	0.90983	0.52633	D	AEFDBI	.	.	.	1.00022495450708	0.95751	13.92819	0.820616741358767	0.91190	10.76225	0.875402632198417	0.25505	0.086534	0.02243	0	0.085267	0.02369	0	0.063197	0.01477	0	0.084962	0.02358	0	0.946276	0.61085	5.06	5.06	0.67838	3.621000	0.53951	7.518000	0.59719	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.891000	0.42908	0.0:1.0:0.0:0.0	14.293	0.65848	923	0.18507	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1004.45	42	chr12	10075503	.	C	A	1004.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.72;DP=263;ExcessHet=0;FS=0.866;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=1.05;SOR=0.816	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1167	6	0	1	0
chr12	10450556	10450556	G	A	exonic	KLRC1	.	nonsynonymous SNV	KLRC1:NM_002259:exon3:c.C211T:p.L71F,KLRC1:NM_007328:exon3:c.C211T:p.L71F,KLRC1:NM_001304448:exon4:c.C211T:p.L71F,KLRC1:NM_213657:exon4:c.C211T:p.L71F,KLRC1:NM_213658:exon4:c.C211T:p.L71F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00141508426883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.86e-07	6.841e-07	0	1.378e-06	9.022e-07	0	0	.	.	0	0	0	0	0	0	9.022e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29959	T	0.159	0.31833	T	0.023	0.29318	B	0.038	0.41006	B	0.006588	0.31929	N	0.147635	0.932098	0.27030	N	2.655	0.77738	M	2.2	0.18570	T	-2.6	0.55983	D	0.09	0.14338	-1.0241	0.22377	T	0.058	0.24428	T	10	0.07306573	0.10990	T	0.001415	0.02088	T	0.055	0.15663	0.435	0.48664	0.0762999501168	0.06990	0.18355798802211948	0.18274	0.0558337906702	0.06170	0.314549088478	0.12594	T	0.420332	0.77207	T	-0.219078	0.18118	T	-0.552467	0.17089	T	0.299999828032544	0.25004	T	0.623338	0.24114	T	0.07667325	0.17355	0.076360516	0.16904	0.07667325	0.17355	0.076360516	0.16903	-6.592	0.51138	T	.	.	0.099	0.16582	B	.;.;.;.;.	.;.;.;.;.	0.557630	0.09259	6.044	0.95869813873891929	0.28044	0.05248	0.11083	N	AEFDGI	0.093960	0.19004	N	-1.00571460951074	0.08485	0.3979927	-1.04643631548098	0.08781	0.4334551	5.26026630357321E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.7	0.681	0.17152	-0.101000	0.10943	-1.117000	0.06280	-1.508000	0.01019	0.012000	0.18695	0.000000	0.08366	0.003000	0.05239	0.1086:0.3592:0.5322:0.0	6.253	0.20064	865	0.32612	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	90.96	31	chr12	10450556	.	G	A	90.96	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.747;DP=258;ExcessHet=0.4139;FS=103.47;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=0.721;SOR=6.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,10:50:35:.:.:35,0,699:.	4	0	2	1
chr12	10450558	10450558	T	C	exonic	KLRC1	.	nonsynonymous SNV	KLRC1:NM_002259:exon3:c.A209G:p.K70R,KLRC1:NM_007328:exon3:c.A209G:p.K70R,KLRC1:NM_001304448:exon4:c.A209G:p.K70R,KLRC1:NM_213657:exon4:c.A209G:p.K70R,KLRC1:NM_213658:exon4:c.A209G:p.K70R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00149238531684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.883e-05	9.338e-05	1.808e-05	1.958e-05	2.393e-05	1.29e-05	1.105e-05	1.665e-05	1.414e-05	0	0	0	0	0	0	2.393e-05	1.68e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.27663	T	0.134	0.34241	T	0.108	0.41422	B	0.059	0.48163	B	0.009195	0.30475	N	0.233058	0.994249	0.23558	N	1.13	0.28900	L	3.54	0.04799	T	-2.31	0.51319	N	0.188	0.20528	-1.0177	0.24463	T	0.016	0.06616	T	10	0.18140915	0.33372	T	0.001492	0.02292	T	0.056	0.15993	0.429	0.47680	0.375861065471	0.37200	0.15159410878450708	0.15081	0.0544959346374	0.06029	0.312913030386	0.12348	T	0.359107	0.72556	T	-0.184719	0.23035	T	-0.503112	0.22025	T	0.399707525968552	0.28931	T	0.765423	0.40135	T	0.046867423	0.07918	0.052267835	0.08578	0.046867423	0.07917	0.052267835	0.08578	-5.4	0.44653	T	.	.	0.101	0.17742	B	.;.;.;.;.	.;.;.;.;.	1.051693	0.14328	10.91	0.99408738587616252	0.63169	0.03255	0.08284	N	AEFDGI	0.065626	0.12810	N	-0.610864535726529	0.18617	0.9679876	-0.658873533394709	0.17993	0.9592327	6.6063052665239E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.7	1.35	0.21078	0.161000	0.16298	-0.103000	0.11918	0.665000	0.62972	0.022000	0.19841	0.002000	0.18203	0.018000	0.11154	0.0:0.2703:0.0:0.7297	4.753	0.12446	865	0.32612	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	59.27	37	chr12	10450558	.	T	C	59.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.178;DP=257;ExcessHet=0;FS=53.478;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.41;ReadPosRankSum=0.966;SOR=4.606	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:47,0:47:58:.:.:0,58,1106:.	5	0	1	1
chr12	10506741	10506741	G	A	exonic	EIF2S3B	.	nonsynonymous SNV	EIF2S3B:NM_001357731:exon1:c.G839A:p.G280D,EIF2S3B:NM_001357734:exon1:c.G839A:p.G280D	.	8	1511	3	0	0	3	0.000991736	.	.	.	2810179	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.305	0.00429326127352	.	0.000399361	0.0033	0.0007	0.0010	0	0.0023	0.0055	0.0022	0	0.0032794	507	154602	rs199779592	0.0057	0.0057	0.0059	0.0055	0.0070	0.0056	0.0055	0.0069	0.0068	0.0008	0.0015	0.0002	0	0.0033	0.0003	0.0070	0.0042	1.159e-05	0.0035	0.0035	0.0040	0.0029	0.0059	0.0032	0.0031	0.0055	0.0053	0.0012	0	0.0031	0	0	0.0019	0	0.0059	0.0028	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	.	.	.	.	.	.	-0.01	0.62762	T	-6.77	0.92782	D	0.752	0.75101	-0.6036	0.64668	T	0.226	0.59058	T	6	0.061276555	0.07657	T	0.004293	0.10404	T	0.305	0.62620	.	.	0.550128394979	0.54669	0.862609157137501	0.86224	0.501699088595	0.48549	.	.	.	0.224909	0.58949	T	-0.310228	0.07727	T	-0.207366	0.53946	T	0.114058473018789	0.13839	T	0.981335	0.93623	D	0.81536865	0.84910	0.55783635	0.74422	0.81536865	0.84911	0.55783635	0.74422	-11.865	0.87592	D	.	.	0.976	0.90590	P	.;.	.;.	3.661113	0.52006	23.2	0.99608320350845603	0.74634	0.36320	0.25506	N	AEFGBI	0.181331	0.30865	N	-0.267205732839226	0.30423	1.696202	-0.385955209143464	0.25414	1.397517	3.04374497366635E-5	0.03498	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	2.35	0.366	0.15369	5.009000	0.63753	6.624000	0.56129	-0.510000	0.05000	1.000000	0.71638	1.000000	0.68203	0.109000	0.18697	0.3216:0.0:0.6784:0.0	5.920	0.18317	934	0.15400	.;Translation elongation factor EFTu-like, domain 2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	967.45	93	chr12	10506741	.	G	A	967.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.104;DP=655;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-0.756;SOR=0.722	GT:AD:DP:GQ:PL	0/0:166,0:166:99:0,120,1800	6	0	1	0
chr12	10806817	10806817	C	A	exonic	TAS2R8	.	nonsynonymous SNV	TAS2R8:NM_023918:exon1:c.G164T:p.R55I	.	437	1072	12	1	0	14	0.00648749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	.	0.0038	0.00539137	0.0043	0.0012	0.0029	0.0001	0.0015	0.0050	0.0044	0.0079	0.0042755	661	154602	rs142540719	0.0048	0.0048	0.0047	0.0049	0.0096	0.0047	0.0047	0.0090	0.0088	0.0007	0.0035	0.0055	2.52e-05	0.0026	0.0059	0.0048	0.0059	0.0096	0.0037	0.0037	0.0037	0.0037	0.0128	0.0034	0.0033	0.0103	0.0094	0.0009	0.0022	0.0040	0.0049	0.0002	0.0027	0.0068	0.0050	0.0052	0.0128	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.434370	0.12708	U	0.682034	0.988337	0.40745	D	3.63	0.94006	H	1.2	0.37405	T	-7.8	0.95924	D	0.527	0.55626	-0.6104	0.64387	T	0.223	0.58742	T	10	0.013548523	0.00287	T	.	.	.	0.257	0.56827	.	.	0.377976839388	0.37411	0.2103716931649371	0.20953	0.0063831523443	0.00556	0.283663511276	0.08008	T	0.224698	0.58921	T	-0.258535	0.13073	T	-0.138454	0.60251	T	0.082055394761757	0.10248	T	.	.	.	0.66386664	0.76106	0.8723281	0.93026	0.66386664	0.76107	0.8723281	0.93027	-8.048	0.61397	D	.	.	0.527	0.65785	A	.	.	2.978778	0.39725	21.0	0.98573903527112194	0.43141	0.86188	0.45421	D	AEFBI	0.247155	0.36778	N	0.501910021310106	0.67202	5.050419	0.341232598334537	0.57981	3.966212	1.55228032082513E-4	0.05650	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.79	3.9	0.44240	1.370000	0.33843	1.537000	0.27200	0.530000	0.24713	0.910000	0.31679	0.998000	0.33993	0.693000	0.33928	0.0:0.799:0.0:0.201	7.413	0.26202	817	0.41665	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.005051	0.006793	0.000000	0.000000	0.000000	0.003067	0.000000	0.07143	1752.44	38	chr12	10806817	.	C	A	1752.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.461;DP=382;ExcessHet=0;FS=2.664;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=0.157;SOR=0.615	GT:AD:DP:GQ:PL	0/1:93,78:171:99:1763,0,2215	6	0	1	0
chr12	10809423	10809423	C	T	exonic	TAS2R9	.	nonsynonymous SNV	TAS2R9:NM_023917:exon1:c.G653A:p.G218E	.	421	1057	42	2	0	46	0.0212963	.	.	.	713304	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.047	.	0.0097	0.0121805	0.0082	0.0200	0.0046	0	0	0.0042	0.0132	0.0263	0.0074708	1155	154602	rs113883583	0.0049	0.0049	0.0041	0.0058	0.0282	0.0048	0.0048	0.0273	0.0269	0.0201	0.0039	0.0184	5.039e-05	0.0005	0.0205	0.0026	0.0064	0.0282	0.0083	0.0083	0.0078	0.0088	0.0278	0.0079	0.0078	0.0240	0.0225	0.0187	0	0.0060	0.0182	0	0.0003	0.0068	0.0026	0.0085	0.0278	0.002	0.72154	D	0.016	0.60972	D	0.996	0.68779	D	0.959	0.70163	D	0.026387	0.25927	U	0.215630	1	0.08975	N	2.32	0.66415	M	5.14	0.01205	T	-5.78	0.87988	D	0.279	0.31590	-1.0726	0.08851	T	0.011	0.04088	T	10	0.004649937	0.00097	T	.	.	.	0.047	0.12962	.	.	0.0846915920261	0.08053	0.031241767503459902	0.03073	0.0320678791834	0.03334	0.253196954727	0.04111	T	0.04032	0.25486	T	-0.559853	0.00254	T	-0.557369	0.16624	T	0.0819738616744035	0.10238	T	.	.	.	0.3881858	0.59903	0.4607451	0.68681	0.3881858	0.59903	0.4607451	0.68681	-7.222	0.55639	T	.	.	0.234	0.46677	B	.	.	2.002613	0.25446	16.76	0.94624989406091298	0.25207	0.17470	0.19851	N	AEFBI	0.083691	0.16956	N	-0.308932895454893	0.28807	1.592075	-0.592638088580168	0.19683	1.057207	1.8890469003529E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.46	1.59	0.22622	0.514000	0.22492	-3.557000	0.02697	-0.949000	0.02041	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1632:0.6547:0.0:0.1821	5.313	0.15147	822	0.40702	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	354.53	30	chr12	10809423	.	C	T	354.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.733;DP=205;ExcessHet=0;FS=2.218;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.7;ReadPosRankSum=0.891;SOR=0.18	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	6	0	1	0
chr12	10930916	10930916	C	T	exonic	PRH2	.	nonsynonymous SNV	PRH2:NM_001110213:exon3:c.C355T:p.R119C	.	435	924	162	0	1	163	0.080597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00135719490272	.	.	0.0029	0.0048	0.0017	0.0035	0.0008	0.0036	0	0.0007	0.0001921	5	26028	rs200488155	0.0017	0.0087	0.0012	0.0022	0.0033	0.0017	0.0016	0.0030	0.0029	0.0009	0.0027	0.0003	0.0013	0.0084	0.0014	0.0014	0.0014	0.0033	0.0020	0.0066	0.0021	0.0020	0.0021	0.0018	0.0018	0.0018	0.0017	0.0019	0	0.0018	0.0003	0.0021	0.0034	0	0.0021	0.0031	0.0009	0.003	0.68238	D	0.053	0.47336	T	.	.	.	.	.	.	0.105583	0.02589	U	18.770200	1	0.08975	N	.	.	.	3.6	0.04494	T	-2.67	0.57110	D	0.136	0.16447	-0.9623	0.38742	T	0.014	0.05705	T	10	0.006133795	0.00138	T	0.001357	0.01961	T	0.040	0.10527	.	.	0.043077524339	0.03247	0.42757858420159933	0.42674	2.02830112022	0.94057	0.486923903227	0.37012	T	.	.	.	-0.311255	0.07638	T	-0.684873	0.06690	T	0.0238748472601751	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.51798	B	.;.	.;.	1.809367	0.22993	15.84	0.69557796090960189	0.09011	0.00174	0.01026	N	AEFGI	0.041418	0.06294	N	-1.24081326439534	0.04422	0.1995362	-1.38216006772386	0.03442	0.1605599	0.243600485591568	0.18599	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	0.865	-0.205	0.12548	0.171000	0.16497	-5.685000	0.01631	0.411000	0.20652	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5953:0.4047:0.0	4.703	0.12216	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009740	0.026316	0.001362	0.016667	0.000000	0.008621	0.009434	0.007812	0.07143	290.46	41	chr12	10930916	.	C	T	290.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.819;DP=331;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=42.83;MQRankSum=-1.721;QD=2.74;ReadPosRankSum=0.622;SOR=0.555	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	6	0	1	0
chr12	11062033	11062035	AGA	-	exonic	TAS2R46	.	nonframeshift deletion	TAS2R46:NM_176887:exon1:c.260_262del:p.V87_W88delinsG	.	427	1075	18	2	0	22	0.0101289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0090	0.0029	0.0052	0.0323	0.0014	0.0092	0.0189	0.0048	0.0071409	1104	154602	rs770425892	0.0095	0.0095	0.0096	0.0094	0.0244	0.0093	0.0093	0.0231	0.0226	0.0033	0.0063	0.0068	0.0244	0.0015	0.0201	0.0099	0.0109	0.0058	0.0085	0.0085	0.0090	0.0079	0.0375	0.0081	0.0079	0.0332	0.0316	0.0030	0.0252	0.0092	0.0084	0.0375	0.0011	0.0408	0.0102	0.0142	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032729	0.070707	0.036685	0.032164	0.050000	0.034483	0.015244	0.007576	0.07143	2404.4	38	chr12	11062032	.	CAGA	C	2404.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.68;DP=367;ExcessHet=0;FS=5.109;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.3;ReadPosRankSum=-0.199;SOR=1.109	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:47,0:47:99:.:.:0,99,1485:.	6	0	1	0
chr12	11062035	11062035	-	CC	exonic	TAS2R46	.	frameshift insertion	TAS2R46:NM_176887:exon1:c.259_260insGG:p.V87Gfs*5	.	426	1076	18	2	0	22	0.0101196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0090	0.0029	0.0052	0.0323	0.0014	0.0092	0.0189	0.0048	0.0071409	1104	154602	rs774022236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0085	0.0085	0.0090	0.0079	0.0375	0.0081	0.0079	0.0332	0.0315	0.0030	0.0252	0.0092	0.0084	0.0375	0.0011	0.0408	0.0102	0.0142	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2364.4	38	chr12	11062035	.	A	ACC	2364.4	.	AC=1;AF=0.071;AN=14;DP=361;ExcessHet=0;FS=4.084;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.13;ReadPosRankSum=0.173;SOR=1.074	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:47,0:47:99:.:.:0,99,1485:.	6	0	1	0
chr12	11091839	11091839	C	T	exonic	TAS2R43	.	nonsynonymous SNV	TAS2R43:NM_176884:exon1:c.G391A:p.V131M	.	459	1026	32	5	0	42	0.0200573	.	.	.	2810184	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.023	.	0.0050	0.00399361	0.0046	0.0011	0.0035	0	0.0005	0.0066	0.0126	0.0033	0.0039909	617	154602	rs186718859	0.0049	0.0046	0.0049	0.0049	0.0390	0.0048	0.0048	0.0348	0.0332	0.0013	0.0053	0.0234	2.529e-05	0.0003	0.0390	0.0047	0.0080	0.0036	0.0050	0.0045	0.0051	0.0050	0.0115	0.0047	0.0046	0.0100	0.0094	0.0010	0	0.0115	0.0294	0	0.0001	0.0483	0.0059	0.0072	0.0031	0.225	0.18626	T	0.189	0.28575	T	0.795	0.44777	P	0.714	0.54635	P	.	.	.	.	1	0.08975	N	1.95	0.52479	M	5.7	0.00742	T	-1.21	0.30762	N	0.088	0.06587	-0.8727	0.50326	T	0.003	0.00961	T	9	0.01653698	0.00349	T	.	.	.	0.023	0.04649	.	.	0.21737058555	0.21362	0.11926794117223397	0.11853	0.187907574998	0.21116	0.252214491367	0.04005	T	0.008581	0.07868	T	-0.338172	0.05515	T	-0.723537	0.04626	T	0.0180244596414497	0.00526	T	0.860814	0.55431	D	0.067621015	0.14658	0.085668504	0.19797	0.067621015	0.14658	0.085668504	0.19796	-5.353	0.40464	T	.	.	0.142	0.31304	B	.	.	-0.316511	0.02545	0.307	0.95792710937999048	0.27836	0.00158	0.00946	N	AEFI	0.024026	0.01424	N	-0.703983466663494	0.15909	0.8059916	-0.940122615972782	0.11153	0.5664451	7.70814022812138E-6	0.01202	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	1.97	-0.0553	0.13141	-2.257000	0.01262	-20.000000	0.00162	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5586:0.0:0.4413	3.892	0.08627	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.042510	0.070707	0.051630	0.045181	0.050000	0.068966	0.021341	0.011364	0.07143	1561.44	161	chr12	11091839	.	C	T	1561.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.384;DP=798;ExcessHet=0;FS=2.028;MLEAC=1;MLEAF=0.071;MQ=58.06;MQRankSum=3.86;QD=9.7;ReadPosRankSum=-1.384;SOR=0.874	GT:AD:DP:GQ:PL	0/0:108,0:108:99:0,120,1800	6	0	1	0
chr12	11092054	11092054	A	C	exonic	TAS2R43	.	nonsynonymous SNV	TAS2R43:NM_176884:exon1:c.T176G:p.L59R	.	438	1059	25	0	0	25	0.0116659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.000676087455412	0.0011	.	0.0026	0.0025	0.0019	0	0.0002	0.0035	0	0.0024	0.0024385	377	154602	rs199546416	0.0014	0.0063	0.0013	0.0016	0.0027	0.0014	0.0014	0.0017	0.0016	0.0006	0.0019	0.0014	0	0.0004	0.0027	0.0015	0.0012	0.0020	0.0041	0.0088	0.0040	0.0041	0.0051	0.0038	0.0037	0.0044	0.0042	0.0034	0.0138	0.0051	0.0059	0	0.0010	0.0037	0.0049	0.0028	0.0041	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.08975	N	3.78	0.95251	H	5.52	0.00903	T	-5.86	0.88561	D	0.751	0.75009	-1.0677	0.09926	T	0.020	0.08313	T	9	0.07676786	0.12033	T	6.76E-4	0.00383	T	0.097	0.27909	.	.	0.392239652056	0.38839	0.44651251719554647	0.44569	0.638325900956	0.57558	0.372237861156	0.21153	T	0.089147	0.38311	T	-0.00860295	0.50460	T	-0.250134	0.49803	T	0.225228488445282	0.21722	T	0.949205	0.80472	D	0.75837773	0.81358	0.6548802	0.79795	0.75837773	0.81359	0.6548802	0.79796	-9.046	0.67993	D	.	.	0.321	0.54609	B	.	.	2.448962	0.31530	18.77	0.99561732332247965	0.71831	0.02054	0.06135	N	AEFI	0.046242	0.07655	N	0.0533148695102071	0.44294	2.706165	-0.269043779314605	0.29123	1.629217	3.01214840759549E-5	0.03498	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.97	1.97	0.25278	1.889000	0.39352	1.309000	0.25526	0.399000	0.20540	0.021000	0.19753	0.000000	0.08366	0.007000	0.07825	1.0:0.0:0.0:0.0	5.865	0.18019	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009062	0.020833	0.006793	0.008264	0.055556	0.017241	0.009146	0.007752	0.07143	108.63	48	chr12	11092054	.	A	C	108.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.01;DP=389;ExcessHet=0;FS=10.813;MLEAC=1;MLEAF=0.071;MQ=53.91;MQRankSum=-4.398;QD=3.5;ReadPosRankSum=2.23;SOR=2.248	GT:AD:DP:GQ:PL	0/0:108,0:108:99:0,120,1800	6	0	1	0
chr12	11092088	11092088	G	0	exonic	TAS2R43	.	.	.	.	456	371	599	79	17	774	0.505003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1193.3	59	chr12	11092088	.	G	*	1193.3	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.221;DP=453;ExcessHet=0.4813;FS=11.481;MLEAC=1;MLEAF=0.071;MQ=56.82;MQRankSum=-7.697;QD=4.45;ReadPosRankSum=1.65;SOR=1.245	GT:AD:DP:GQ:PL	0/0:106,0:116:11:0,318,3581	6	0	1	0
chr12	11171445	11171445	G	A	exonic	SMIM10L1	.	nonsynonymous SNV	SMIM10L1:NM_001271592:exon1:c.G89A:p.G30E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.702	0.70615	.	.	.	.	.	.	.	0.78117424	0.77866	D	.	.	.	.	.	.	.	.	.	0.6853887368857406	0.68477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.877812	0.59215	D	0.33958247	0.56247	0.60669684	0.77133	0.33958247	0.56247	0.60669684	0.77134	-3.822	0.21134	T	.	.	0.863	0.80494	P	.	.	5.244023	0.88041	29.5	0.98044460064142314	0.37820	0.43883	0.27196	N	ALL	.	.	.	.	.	.	.	.	.	0.999999999999879	0.74766	0.08998	0.02334	0	0.098	0.03038	0	0.054209	0.00285	2	0.159066	0.04077	0	0.423428	0.38116	3.77	2.84	0.32241	4.929000	0.63156	8.641000	0.77894	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1863:0.8137:0.0	11.319	0.48644	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	647.46	46	chr12	11171445	.	G	A	647.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.266;DP=329;ExcessHet=0;FS=0.843;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.53;ReadPosRankSum=-0.143;SOR=0.872	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,103,1195	6	0	1	0
chr12	11267207	11267254	GTCCCTGGGGAGGTCTGTGTGGTCTGCCCCCTTGAGGAGGTGGAGGTG	-	exonic	PRB3	.	nonframeshift deletion	PRB3:NM_006249:exon4:c.869_916del:p.P290_G305del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	64.4	36	chr12	11267206	.	TGTCCCTGGGGAGGTCTGTGTGGTCTGCCCCCTTGAGGAGGTGGAGGTG	T	64.4	.	AC=1;AF=0.071;AN=14;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.88;SOR=0.368	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1304	6	0	1	0
chr12	11308825	11308825	G	T	exonic	PRB4	.	nonsynonymous SNV	PRB4:NM_001261399:exon3:c.C158A:p.P53H,PRB4:NM_002723:exon3:c.C158A:p.P53H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.000724737728306	.	.	8.342e-06	0	0	0	0	0	0	6.071e-05	6.5e-06	1	154602	rs145538331	0.0003	0.0091	0.0003	0.0003	0.0008	0.0002	0.0002	0.0006	0.0005	0.0005	0.0002	0.0007	0.0008	0.0004	0	0.0002	0.0005	3.579e-05	0.0008	0.0070	0.0008	0.0007	0.0013	0.0006	0.0006	0.0005	0.0005	0.0008	0	0.0009	0.0009	0.0007	0.0008	0	0.0006	0.0028	0.0013	0.086	0.32610	T	0.079	0.42086	T	0.62	0.39915	P	0.192	0.36449	B	.	.	.	.	1	0.08975	N	.	.	.	3.66	0.04228	T	-1.82	0.42763	N	0.189	0.24385	-1.0172	0.24625	T	0.013	0.04985	T	8	0.094213486	0.16733	T	7.25E-4	0.00472	T	0.038	0.09825	0.307	0.27806	0.0297737177859	0.01360	0.14867610920793883	0.14789	5.39720892046E-4	0.00050	.	.	.	0.009784	0.08886	T	-0.461542	0.00962	T	-0.717981	0.04894	T	0.0491737318569793	0.05354	T	0.30297	0.06003	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.05103	B	.;.;.;.	.;.;.;.	-1.486722	0.00303	0.005	0.13684848466116051	0.00278	0.00057	0.00426	N	AEFBI	0.022063	0.01057	N	-1.78961807863172	0.00571	0.02459707	-2.02858908995553	0.00266	0.01174935	0.00233645441564733	0.09333	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	0.618	-1.24	0.08948	-3.359000	0.00553	-12.909000	0.00492	-10.517000	0.00000	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	128.24	115	chr12	11308825	.	G	T	128.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.586;DP=1187;ExcessHet=0.3476;FS=1.072;MLEAC=2;MLEAF=0.143;MQ=58.51;MQRankSum=-13.09;QD=0.22;ReadPosRankSum=-5.77;SOR=0.926	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:186,0:186:99:.:.:0,120,1800:.	5	0	2	0
chr12	11353474	11353474	-	GGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon7:c.1434_1435insAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACAGACCTCAAGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCC:p.E479delinsKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATDLKVPHLQESHKDHPHKETSPE	.	531	945	7	0	39	46	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.0055	0.0042	0.0054	0.0017	0.0025	0	0.0074	.	.	.	.	0.0047	0.0049	0.0045	0.0050	0.0662	0.0046	0.0046	0.0612	0.0593	0.0040	0.0065	0.0131	0.0662	0.0167	0.0024	0.0033	0.0074	0.0029	0	8.638e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4402.39	24	chr12	11353474	.	C	CGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT	4402.39	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.1;DP=365;ExcessHet=0;FS=17.434;MLEAC=2;MLEAF=0.143;MQ=48.59;MQRankSum=-5.739;QD=27.18;ReadPosRankSum=-1.781;SOR=1.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:59,0:59:25:.:.:0,25,1608:.	6	1	0	0
chr12	11353720	11353720	-	TGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon5:c.1368_1369insAACCTCAGGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCCAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACA:p.D457delinsNLRVPHLQESHKDHPHKETSPKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATD	.	540	935	7	29	11	76	0.0335917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0085	0.0088	0.0081	0.0089	0.0159	0.0083	0.0083	0.0146	0.0141	0.0033	0.0083	0.0191	0.0159	0.0281	0.0146	0.0072	0.0123	0.0121	0.0005	0.0008	0.0005	0.0005	0.0004	0.0003	0.0002	0.0001	8.372e-05	0	0	0	0.0033	0	0.0067	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	13735.2	137	chr12	11353720	.	C	CTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	13735.2	.	AC=4;AF=1;AN=4;BaseQRankSum=2.45;DP=1307;ExcessHet=0;FS=1.765;MLEAC=6;MLEAF=1;MQ=47.33;MQRankSum=0.446;QD=28.79;ReadPosRankSum=-1.561;SOR=0.757	GT:AD:DP:GQ:PL	1/1:10,259:269:99:7876,685,0	0	2	0	5
chr12	11393260	11393260	T	C	exonic	PRB1;PRB2	.	nonsynonymous SNV	PRB1:NM_001367912:exon3:c.A818G:p.K273R,PRB2:NM_006248:exon3:c.A818G:p.K273R	.	636	885	1	0	0	1	0.000564653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.000467316066992	.	0.00179712	0.0007	0.0001	0.0005	0.0007	0.0008	0.0001	0.0024	0.0035	0.0014984	39	26028	rs369970384	0.0008	0.0008	0.0006	0.0010	0.0076	0.0008	0.0007	0.0070	0.0068	0.0003	0.0004	0	0.0034	0.0006	0.0014	0.0002	0.0009	0.0076	0.0002	0.0003	0.0002	0.0002	0.0022	0.0001	8.063e-05	.	.	0.0001	0	0	0	0	0.0014	0	5.3e-05	0.0019	0.0022	.	.	.	0.761	0.04619	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.59	0.04544	T	-0.18	0.09796	N	0.09	0.06854	-0.9094	0.46928	T	0.007	0.02360	T	9	0.008434325	0.00191	T	4.67E-4	0.00124	T	0.002	0.00045	.	.	0.0297737177859	0.01360	0.044343860196678464	0.04378	0.0562448936161	0.06214	.	.	.	.	.	.	-0.669785	0.00055	T	-0.732264	0.04225	T	0.00196538983542656	0.00020	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.29995	B	.	.	0.369699	0.07422	4.050	0.34869384745235832	0.02157	0.00358	0.01837	N	AEFI	0.030497	0.03083	N	-1.4847164910217	0.01957	0.08594914	-1.5831365893709	0.01758	0.07998625	4.26861188488496E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.23	-2.46	0.06089	-0.004000	0.12813	0.000000	0.13247	0.244000	0.18284	0.001000	0.13787	0.012000	0.20211	0.002000	0.04165	0.0:0.0:0.3813:0.6187	4.495	0.11241	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003195	0.005102	0.000000	0.004132	0.000000	0.008621	0.000000	0.011450	0.07143	812.45	148	chr12	11393260	.	T	C	812.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.05;DP=1025;ExcessHet=0;FS=8.774;MLEAC=1;MLEAF=0.071;MQ=53.12;MQRankSum=-0.855;QD=5.68;ReadPosRankSum=-2.879;SOR=1.435	GT:AD:DP:GQ:PL	0/0:256,0:256:99:0,120,1800	6	0	1	0
chr12	11393446	11393446	T	C	exonic	PRB1;PRB2	.	nonsynonymous SNV	PRB1:NM_001367912:exon3:c.A632G:p.K211R,PRB2:NM_006248:exon3:c.A632G:p.K211R	.	640	880	2	0	0	2	0.00113507	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.000928897356501	.	.	0.0011	0	0.0003	0	0	0.0001	0.0036	0.0088	3.84e-05	1	26028	rs11054276	0.0005	0.0004	0.0003	0.0006	0.0058	0.0004	0.0004	0.0053	0.0052	0	0.0001	0	4.165e-05	0	0.0007	5.417e-05	0.0006	0.0058	9.122e-05	6.199e-05	9.246e-05	9.003e-05	0.0002	3.026e-05	1.832e-05	3.353e-05	1.828e-05	0	0	0.0002	0	0	0	0	0.0001	0	0	.	.	.	0.787	0.04234	T	.	.	.	.	.	.	0.085243	0.02397	U	3.389640	0.999999	0.08975	N	.	.	.	3.59	0.04544	T	-0.44	0.14588	N	0.079	0.05414	-0.9611	0.38974	T	0.009	0.03227	T	10	0.006696433	0.00152	T	9.29E-4	0.00911	T	0.038	0.09825	0.37	0.38013	0.0297737177859	0.01360	0.05175726249241457	0.05117	0.0562448936161	0.06214	.	.	.	.	.	.	-0.367246	0.03736	T	-0.7653	0.02926	T	0.0239600490539732	0.01140	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.35808	B	.	.	0.121771	0.05193	1.705	0.93480478146999102	0.23277	0.00054	0.00410	N	AEFBI	0.021918	0.01033	N	-0.912762067602623	0.10543	0.5042915	-1.04985506804406	0.08710	0.4295901	1.79930721206727E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	0.892	0.892	0.18364	-1.613000	0.02161	-3.863000	0.02488	-0.407000	0.05276	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.0:1.0	4.210	0.09965	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011158	0.025773	0.004076	0.004098	0.050000	0.017544	0.012270	0.011450	0.07143	783.44	148	chr12	11393446	.	T	C	783.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.337;DP=1166;ExcessHet=0;FS=0.516;MLEAC=1;MLEAF=0.071;MQ=54.37;MQRankSum=-1.486;QD=2.78;ReadPosRankSum=1.45;SOR=0.697	GT:AD:DP:GQ:PL	0/0:256,0:256:99:0,120,1800	6	0	1	0
chr12	12126883	12126883	C	T	exonic	LRP6	.	nonsynonymous SNV	LRP6:NM_002336:exon20:c.G4120A:p.V1374I	Tooth agenesis, selective, 7, Autosomal dominant	419	1098	5	0	0	5	0.00227169	.	.	.	724943	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.096	.	7.7e-05	0.00339457	0.0026	9.61e-05	8.642e-05	0.0001	0	0	0.0011	0.0192	0.0022445	347	154602	rs373718225	0.0013	0.0013	0.0007	0.0018	0.0195	0.0012	0.0012	0.0187	0.0184	5.974e-05	0	0	0	0	0.0007	5.126e-05	0.0014	0.0195	0.0007	0.0007	0.0005	0.0010	0.0210	0.0006	0.0006	0.0176	0.0164	0.0001	0	0	0	0.0002	0	0	2.94e-05	0	0.0210	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.002483	0.36462	N	0.117881	0.929854	0.81001	D	-1.525	0.00485	N	0.9	0.45248	T	0.19	0.05035	N	0.154	0.24260	-0.9998	0.29973	T	0.032	0.13548	T	10	0.0063863695	0.00145	T	.	.	.	0.096	0.27654	.	.	0.165150595986	0.16160	0.2551074632314068	0.25424	0.13911121961	0.15683	0.601883292198	0.53170	T	0.333331	0.70319	T	-0.585354	0.00179	T	-0.598002	0.12979	T	0.0405827163881705	0.03796	T	.	.	.	0.02616225	0.01640	0.03409556	0.02415	0.020941708	0.00672	0.030796729	0.01580	-3.732	0.19791	T	.	.	0.068	0.02733	B	.;.	.;.	2.547955	0.32975	19.20	0.87081105071329545	0.16975	0.82064	0.41350	D	AEFGBI	0.164255	0.29063	N	-0.254576191123986	0.30922	1.728776	0.0591590871078396	0.42515	2.572947	0.999983557735531	0.51787	0.732398	0.92422	0	0.708844	0.79440	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.84	5.84	0.93373	4.681000	0.61353	7.713000	0.66906	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.8073:0.0:0.1927	7.662	0.27575	950	0.11238	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	1021.63	35	chr12	12126883	.	C	T	1021.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.588;DP=277;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-0.947;SOR=0.726	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1287	6	0	1	0
chr12	12330907	12330907	T	C	exonic	MANSC1	.	nonsynonymous SNV	MANSC1:NM_018050:exon4:c.A416G:p.D139G,MANSC1:NM_001363613:exon5:c.A314G:p.D105G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.0146792314068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0039	0.0004	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	0.0003	0	3.975e-05	5.116e-05	0	0.0002	0.0004	0.0003	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.15251	T	0.123	0.41573	T	0.002	0.09854	B	0.001	0.04355	B	0.663613	0.10405	N	0.800555	1	0.08975	N	1.245	0.31408	L	2.25	0.22881	T	-0.47	0.15178	N	0.031	0.01911	-0.9937	0.31643	T	0.030	0.12935	T	10	0.035876542	0.01857	T	0.014679	0.34954	T	0.016	0.02506	0.15	0.05339	0.0138822411134	0.00435	0.33148484278697865	0.33061	0.118754727936	0.13371	0.244366616011	0.03197	T	0.004238	0.10910	T	-0.346822	0.04929	T	-0.735962	0.04062	T	0.0301569309085608	0.02013	T	.	.	.	0.04236311	0.06411	0.026856218	0.00800	0.04236311	0.06410	0.026856218	0.00800	-3.929	0.22738	T	.	.	0.073	0.10545	B	.;.;.	.;.;.	0.071517	0.04796	1.408	0.89113004901921966	0.18522	0.01952	0.05932	N	AEFBI	0.048170	0.08193	N	-1.08359303296155	0.06945	0.3211853	-1.10572455078057	0.07590	0.3697953	0.779261376700607	0.23811	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.3	0.267	0.14876	-0.186000	0.09666	-1.883000	0.04557	0.595000	0.32841	0.000000	0.06391	0.000000	0.08366	0.220000	0.22462	0.0:0.2766:0.2406:0.4828	2.929	0.05440	612	0.66786	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	48.49	59	chr12	12330907	.	T	C	48.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.738;DP=410;ExcessHet=0;FS=140.529;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=0.686;SOR=8.065	GT:AD:DP:GQ:PL	0/1:90,31:121:59:59,0,1704	6	0	1	0
chr12	12787400	12787400	T	A	exonic	APOLD1	.	nonsynonymous SNV	APOLD1:NM_001130415:exon2:c.T588A:p.N196K,APOLD1:NM_030817:exon2:c.T495A:p.N165K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.0111226423567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.46129	D	0.257	0.23231	T	0.954	0.54400	P	0.541	0.48869	P	0.000487	0.43931	U	0.150870	0.76788	0.29469	N	0.895	0.22405	L	4.95	0.01376	T	-0.82	0.23372	N	0.295	0.33360	-0.9094	0.46928	T	0.005	0.01833	T	10	0.194956	0.35328	T	0.011123	0.28415	T	0.101	0.28911	0.569	0.69167	0.440182696023	0.43640	0.43167884085787706	0.43084	.	.	0.593904137611	0.52045	T	0.003669	0.03081	T	-0.207062	0.19794	T	-0.535207	0.18769	T	0.902645885944366	0.55566	D	0.825917	0.48908	T	0.15585002	0.35202	0.22038282	0.46811	0.15585002	0.35201	0.22038282	0.46810	-3.353	0.14949	T	.	.	0.619	0.69641	P	.;.	.;.	3.881869	0.56424	23.7	0.99436417010890099	0.64522	0.24796	0.22504	N	ALL	0.222044	0.34659	N	-0.213851494408575	0.32564	1.837883	-0.208462068642273	0.31230	1.765538	0.999999926305372	0.74766	0.437478	0.07067	0	0.218748	0.04544	0	0.606814	0.37721	0	0.372554	0.06265	0	.	.	5.35	2.04	0.25787	0.495000	0.22191	1.664000	0.27916	-0.356000	0.05535	0.949000	0.33028	1.000000	0.68203	0.992000	0.67800	0.0:0.6545:0.0:0.3455	9.197	0.36399	736	0.53558	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1418.49	36	chr12	12787400	.	T	A	1418.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.17;DP=302;ExcessHet=0;FS=2.339;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=-0.229;SOR=0.673	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1019	6	0	1	0
chr12	12822731	12822731	A	G	exonic	DDX47	.	nonsynonymous SNV	DDX47:NM_016355:exon6:c.A632G:p.K211R,DDX47:NM_201224:exon6:c.A632G:p.K211R	.	.	.	.	.	.	.	.	1.0000	0.99	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.0141385498942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	2.724e-06	1.376e-06	2.7e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.7e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.005	0.72224	D	0.967	0.56408	D	0.86	0.61233	P	0.000000	0.84330	D	0.050272	1	0.81001	D	1.035	0.25616	L	2.43	0.15261	T	-2.86	0.60665	D	0.485	0.58798	-1.0840	0.06591	T	0.057	0.23980	T	10	0.30713907	0.48219	T	0.014139	0.34055	T	0.191	0.46948	0.387	0.40788	0.330069100803	0.32608	0.5508679290867742	0.55012	0.185147739358	0.20815	0.815721750259	0.84371	D	0.187773	0.54148	T	-0.122207	0.32765	T	-0.413318	0.31843	T	0.947580516338348	0.62713	D	0.973003	0.91204	D	0.8449617	0.86965	0.81707513	0.89351	0.8449617	0.86967	0.81707513	0.89352	-11.431	0.84147	D	.	.	0.265	0.51323	B	.;.;.	.;.;.	6.159045	0.94693	34	0.99794443926247689	0.88017	0.99876	0.99923	D	AEFBI	0.944088	0.95075	D	0.348630992000661	0.58668	4.040401	0.500558653915793	0.68030	5.163934	0.999999999999513	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.86	5.86	0.93936	9.001000	0.93107	11.083000	0.85785	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.254	0.82326	828	0.39726	.;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	36	chr12	12822731	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1138	6	1	0	0
chr12	14949865	14949865	C	G	exonic	ARHGDIB	.	nonsynonymous SNV	ARHGDIB:NM_001175:exon3:c.G202C:p.V68L,ARHGDIB:NM_001321421:exon3:c.G202C:p.V68L,ARHGDIB:NM_001321422:exon3:c.G202C:p.V68L,ARHGDIB:NM_001321423:exon3:c.G202C:p.V68L,ARHGDIB:NM_001321420:exon4:c.G202C:p.V68L	.	435	1052	31	4	0	39	0.0181988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00643697141439	0.0045	0.00179712	0.0039	0.0007	0.0017	0	0.0008	0.0057	0.0077	0.0033	0.003868	598	154602	rs41276686	0.0047	0.0047	0.0047	0.0048	0.0089	0.0046	0.0046	0.0069	0.0062	0.0009	0.0029	0.0202	2.52e-05	0.0010	0.0089	0.0049	0.0059	0.0041	0.0035	0.0035	0.0039	0.0031	0.0049	0.0032	0.0031	0.0044	0.0043	0.0009	0	0.0039	0.0173	0	0.0007	0.0068	0.0049	0.0071	0.0035	0.383	0.11085	T	0.655	0.06621	T	0.0	0.02946	B	0.007	0.12992	B	0.623315	0.10756	N	0.844183	1	0.08975	N	1.465	0.36909	L	.	.	.	-0.92	0.27669	N	0.116	0.10483	-1.0043	0.28666	T	0.085	0.33071	T	9	0.00884226	0.00200	T	0.006437	0.16956	T	0.020	0.03691	.	.	0.104622674875	0.10061	0.19116943156447241	0.19034	0.152405977807	0.17200	0.288567006588	0.08715	T	0.227527	0.59284	T	-0.505251	0.00534	T	-0.495923	0.22771	T	0.00235863157850348	0.00024	T	0.852015	0.53695	D	0.10316605	0.24383	0.06509435	0.13143	0.10316605	0.24383	0.06509435	0.13143	-7.25	0.55839	T	.	.	0.165	0.36455	B	.;.;.;.;.;.	.;.;.;.;.;.	1.067310	0.14493	11.06	0.8938090796649002	0.18748	0.08200	0.14159	N	AEFDGBCI	0.082619	0.16731	N	-0.926254409698293	0.10231	0.4879214	-0.931582882893268	0.11350	0.5777253	0.99999976364513	0.74766	0.50712	0.20391	0	0.672317	0.65289	0	0.602189	0.34648	0	0.635259	0.50027	0	.	.	5.23	1.28	0.20656	0.386000	0.20429	1.028000	0.23458	-0.177000	0.10537	0.000000	0.06391	0.951000	0.29025	0.844000	0.39860	0.0:0.2506:0.0:0.7494	8.197	0.30563	546	0.72524	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1650.49	38	chr12	14949865	.	C	G	1650.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.5;DP=325;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=0.999;SOR=0.656	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1188	6	0	1	0
chr12	18320998	18320998	C	G	exonic	PIK3C2G	.	nonsynonymous SNV	PIK3C2G:NM_001288772:exon7:c.C1174G:p.L392V,PIK3C2G:NM_001288774:exon7:c.C508G:p.L170V,PIK3C2G:NM_004570:exon7:c.C1174G:p.L392V	.	451	1049	18	4	0	26	0.0122411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	.	0.0004	0.00339457	0.0021	0.0003	0.0014	0	0	0.0011	0.0067	0.0090	0.0014359	222	154602	rs189270710	0.0009	0.0010	0.0006	0.0012	0.0111	0.0009	0.0009	0.0087	0.0078	0.0002	0.0007	7.805e-05	2.543e-05	0	0.0111	0.0005	0.0014	0.0072	0.0007	0.0007	0.0007	0.0008	0.0070	0.0006	0.0006	0.0052	0.0045	7.215e-05	0	0.0008	0	0	0	0.0204	0.0008	0	0.0070	0.016	0.51853	D	0.0	0.92824	D	0.995	0.67487	D	0.91	0.64641	D	0.000071	0.52346	D	0.000000	0.916993	0.36567	D	2.765	0.80766	M	1.16	0.64818	T	-1.62	0.38924	N	0.544	0.61933	-0.5150	0.68102	T	0.269	0.64098	T	10	0.0085992515	0.00195	T	.	.	.	0.201	0.48592	.	.	0.599340405529	0.59615	0.05888512238855398	0.05829	0.0159091030444	0.01523	0.499150782824	0.38709	T	0.039857	0.31336	T	-0.358409	0.04220	T	-0.28388	0.46406	T	0.0678820302665808	0.08351	T	0.782222	0.43226	T	0.1457468	0.33396	0.15658617	0.36654	0.1457468	0.33396	0.15658617	0.36653	-3.756	0.20149	T	.	.	0.175	0.38390	B	.;.;.;.	.;.;.;.	3.674660	0.52277	23.2	0.99835386737957632	0.91628	0.85627	0.44780	D	AEFBI	0.350359	0.44383	N	0.54592368012716	0.69835	5.413695	0.526110385088951	0.69752	5.40554	0.977723633779124	0.29849	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.57	4.57	0.55860	2.405000	0.44201	2.756000	0.34570	-0.190000	0.09434	1.000000	0.71638	0.994000	0.32194	0.996000	0.76049	0.0:1.0:0.0:0.0	13.171	0.59021	934	0.15400	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.007049	0.000000	0.006793	0.005848	0.000000	0.000000	0.018293	0.015152	0.07143	460.63	38	chr12	18320998	.	C	G	460.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.37;DP=228;ExcessHet=0;FS=1.046;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=-1.33;SOR=0.544	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr12	18488571	18488571	T	-	exonic	PIK3C2G	.	frameshift deletion	PIK3C2G:NM_004570:exon18:c.2504delT:p.I835Tfs*23,PIK3C2G:NM_001288772:exon19:c.2627delT:p.I876Tfs*23,PIK3C2G:NM_001288774:exon19:c.1961delT:p.I654Tfs*23	.	421	1096	4	1	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	9.81e-05	0	0	0.0001	0.0012	0.0017	0.0002264	35	154602	rs765216023	0.0002	0.0002	0.0001	0.0002	0.0014	0.0001	0.0001	0.0012	0.0011	3.157e-05	7.354e-05	3.974e-05	0	0	0.0014	8.231e-05	0.0002	0.0014	0.0001	0.0001	1.285e-05	0.0003	0.0010	9.146e-05	7.702e-05	0.0004	0.0003	2.406e-05	0	0.0007	0	0	0	0	7.356e-05	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1254.45	26	chr12	18488570	.	AT	A	1254.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.396;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.18;ReadPosRankSum=1.15;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,33:73:99:0|1:18488570_AT_A:1265,0,1535:18488570	6	0	1	0
chr12	18488573	18488573	A	C	exonic	PIK3C2G	.	nonsynonymous SNV	PIK3C2G:NM_004570:exon18:c.A2506C:p.K836Q,PIK3C2G:NM_001288772:exon19:c.A2629C:p.K877Q,PIK3C2G:NM_001288774:exon19:c.A1963C:p.K655Q	.	422	1095	4	1	0	6	0.00273224	.	.	.	2352860	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.0220300671842	.	.	0.0003	0	9.917e-05	0	0	0.0002	0.0012	0.0017	0.0002264	35	154602	rs746849167	0.0002	0.0002	0.0001	0.0002	0.0014	0.0001	0.0001	0.0012	0.0011	3.158e-05	7.356e-05	3.972e-05	0	0	0.0014	8.32e-05	0.0002	0.0014	0.0001	0.0001	1.285e-05	0.0003	0.0010	9.145e-05	7.701e-05	0.0004	0.0003	2.405e-05	0	0.0007	0	0	0	0	7.354e-05	0	0.0010	0.764	0.03441	T	0.278	0.22223	T	0.376	0.34240	B	0.234	0.38393	B	0.046012	0.23480	N	0.466822	0.990099	0.24215	N	1.185	0.30054	L	-1.5	0.81318	D	0.06	0.08187	N	0.192	0.21056	-0.8658	0.50842	T	0.278	0.65027	T	10	0.019263238	0.00428	T	0.02203	0.44874	T	0.075	0.21907	0.432	0.48171	0.68311903528	0.68041	0.17578251768827408	0.17497	0.0137740948034	0.01315	0.352341711521	0.18267	T	0.025458	0.19032	T	-0.449927	0.01130	T	-0.43808	0.29024	T	0.0348703813816043	0.02787	T	0.675932	0.28448	T	0.06490843	0.13818	0.04755187	0.06873	0.06490843	0.13817	0.04755187	0.06872	-6.51	0.50363	T	.	.	0.092	0.13503	B	.;.;.	.;.;.	1.896733	0.24088	16.27	0.77037025036373497	0.11711	0.29491	0.23835	N	AEFI	0.198917	0.32574	N	-0.502005495316578	0.22015	1.172571	-0.42611937022988	0.24234	1.325936	3.79579547950385E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.0	2.61	0.30255	0.689000	0.25118	2.119000	0.30708	0.756000	0.94297	0.159000	0.23783	1.000000	0.68203	0.998000	0.85391	0.6937:0.1488:0.1574:0.0	5.345	0.15311	853	0.34956	PI3K-C2-gamma, catalytic domain;PI3K-C2-gamma, catalytic domain;PI3K-C2-gamma, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1254.49	26	chr12	18488573	.	A	C	1254.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.307;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.18;ReadPosRankSum=1.02;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,33:73:99:0|1:18488570_AT_A:1265,0,1535:18488570	6	0	1	0
chr12	21293968	21293968	A	G	exonic	SLCO1A2	.	nonsynonymous SNV	SLCO1A2:NM_021094:exon10:c.T1414C:p.S472P,SLCO1A2:NM_134431:exon12:c.T1414C:p.S472P	.	425	1094	1	2	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	.	.	0.00259585	0.0015	0	8.685e-05	0	0	0	0	0.0110	0.0013001	201	154602	rs377576084	0.0007	0.0007	0.0004	0.0010	0.0117	0.0007	0.0007	0.0111	0.0109	0	0	0	0	0	0.0016	7.204e-06	0.0008	0.0117	0.0004	0.0004	0.0002	0.0006	0.0122	0.0003	0.0003	0.0097	0.0088	0	0	0	0	0	0	0	1.47e-05	0	0.0122	0.002	0.72154	D	0.006	0.70582	D	0.996	0.68779	D	0.981	0.75168	D	0.000046	0.53742	D	0.168693	0.999999	0.08975	N	3	0.85872	M	3.6	0.04494	T	-4.72	0.79998	D	0.623	0.64478	-0.9351	0.43379	T	0.079	0.31496	T	10	0.006500095	0.00147	T	.	.	.	0.224	0.52174	0.523	0.62668	0.484837542351	0.48117	0.8109425218228895	0.81049	0.291971285333	0.31605	0.43934032321	0.30486	T	0.344695	0.71317	T	-0.394795	0.02504	T	-0.330477	0.41417	T	0.16991444158309	0.18574	T	0.836416	0.52386	T	0.95537347	0.96811	0.91972536	0.96379	0.95537347	0.96812	0.91972536	0.96379	-10.8	0.78549	D	.	.	0.598	0.68776	P	.;.	.;.	4.119375	0.61562	24.4	0.99585459205442473	0.73277	0.88965	0.49156	D	AEFI	0.867278	0.78699	D	0.59257673740226	0.72711	5.848797	0.41047026849293	0.62217	4.433404	0.00103591261247939	0.08148	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.93	4.93	0.64394	6.250000	0.72387	6.833000	0.56697	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.398000	0.26737	1.0:0.0:0.0:0.0	14.858	0.69986	911	0.21964	Kazal domain|Major facilitator superfamily domain|Kazal domain;Kazal domain|Kazal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1225.44	33	chr12	21293968	.	A	G	1225.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.161;DP=299;ExcessHet=0;FS=4.46;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=1.97;SOR=0.397	GT:AD:DP:GQ:PL	0/1:64,58:122:99:1236,0,1508	6	0	1	0
chr12	26936607	26936607	A	G	exonic	INTS13	.	nonsynonymous SNV	INTS13:NM_018164:exon2:c.T197C:p.M66T	.	431	1084	7	0	0	7	0.00321839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	.	0.0048	0.00638978	0.0074	0.0015	0.0037	0.0032	0.0111	0.0080	0.0077	0.0118	0.0069663	1077	154602	rs2306852	0.0066	0.0066	0.0064	0.0068	0.0116	0.0065	0.0064	0.0110	0.0107	0.0010	0.0033	0.0082	0.0059	0.0129	0.0033	0.0062	0.0058	0.0116	0.0051	0.0051	0.0045	0.0058	0.0166	0.0048	0.0047	0.0136	0.0126	0.0009	0	0.0023	0.0086	0.0039	0.0135	0	0.0062	0.0052	0.0166	0.014	0.54683	D	0.019	0.59159	D	0.369	0.34063	B	0.171	0.35348	B	0.000000	0.84330	D	0.053007	0.999999	0.81001	D	.	.	.	0.95	0.43279	T	-1.24	0.37955	N	0.635	0.64818	-1.0319	0.19841	T	0.063	0.26065	T	10	0.009756386	0.00219	T	.	.	.	0.258	0.56959	.	.	0.043077524339	0.03247	0.7537742756139795	0.75324	0.944164394163	0.72342	0.850435853004	0.89680	D	0.048665	0.28085	T	-0.278995	0.10773	T	-0.163145	0.58067	T	0.0220620341904398	0.00916	T	0.962604	0.86052	D	0.5809308	0.71659	0.33843145	0.59621	0.5809308	0.71660	0.33843145	0.59620	-2.34	0.04779	T	.	.	0.59	0.68466	P	.;.;.	.;.;.	3.894487	0.56683	23.8	0.98439092490391211	0.41486	0.93029	0.57147	D	AEFBCI	0.927638	0.91061	D	0.224913191330774	0.52410	3.415227	0.382767712630281	0.60504	4.238553	0.999999999994909	0.74766	0.660085	0.49399	0	0.685571	0.66316	0	0.662677	0.59975	0	0.657601	0.63696	0	.	.	5.27	5.27	0.73797	8.865000	0.91904	11.156000	0.87498	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.502	0.75439	832	0.38914	.;.;.	.	.	.	.	rs2306852	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.005051	0.000000	0.002924	0.000000	0.017241	0.027439	0.007576	0.07143	535.53	34	chr12	26936607	.	A	G	535.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.26;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-2.322;SOR=0.637	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1109	6	0	1	0
chr12	27494342	27494342	A	T	exonic	SMCO2	.	nonsynonymous SNV	SMCO2:NM_001145010:exon7:c.A643T:p.I215L	.	444	1072	6	0	0	6	0.0027907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00193482516032	.	0.000399361	0.0001	0.0015	0	0	0	0	0	0	3.23e-05	5	154602	rs538439387	2.767e-05	2.941e-05	2.441e-05	3.103e-05	0.0004	2.057e-05	1.801e-05	6.246e-05	2.685e-05	0.0001	0.0001	0	0	0	0.0004	1.497e-05	0.0002	0	0.0001	0.0001	0.0002	0.0001	0.0004	9.741e-05	8.256e-05	0.0003	0.0002	0.0004	0	6.539e-05	0	0	0	0.0034	2.941e-05	0	0	0.079	0.34800	T	0.083	0.42794	T	0.005	0.12996	B	0.005	0.11217	B	0.925359	0.08458	N	0.957474	1	0.08975	N	1.1	0.28011	L	.	.	.	-1.65	0.39503	N	0.175	0.18784	-1.0148	0.25400	T	0.065	0.26878	T	9	0.011709541	0.00255	T	0.001935	0.03430	T	0.005	0.00259	0.311	0.28451	0.0138822411134	0.00435	0.04180621659198681	0.04125	.	.	0.396810412407	0.24625	T	0.042318	0.26143	T	-0.469531	0.00856	T	-0.548063	0.17511	T	0.0119151420784443	0.00186	T	0.20228	0.02343	T	0.07407378	0.16596	0.09968178	0.23809	0.07407378	0.16596	0.09968178	0.23808	-1.824	0.02582	T	.	.	0.093	0.15475	B	.;.;.	.;.;.	-0.163330	0.03284	0.563	0.87273624816521278	0.17110	0.05467	0.11348	N	AEFI	0.033113	0.03868	N	-1.11189350433185	0.06430	0.2959937	-1.1904431244193	0.06069	0.2910024	5.75424069977167E-4	0.07363	0.553676	0.25195	0	0.588066	0.40923	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	3.29	-1.84	0.07387	-0.497000	0.06509	-1.327000	0.05707	0.729000	0.85517	0.000000	0.06391	0.000000	0.08366	0.592000	0.31189	0.3893:0.0:0.6107:0.0	7.997	0.29432	793	0.45818	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002571	0.000000	0.000000	0.000000	0.000000	0.000000	0.006024	0.014706	0.07143	315.44	45	chr12	27494342	.	A	T	315.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.045;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.01;ReadPosRankSum=-2.135;SOR=0.558	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1063	6	0	1	0
chr12	30653008	30653008	A	G	exonic	IPO8	.	nonsynonymous SNV	IPO8:NM_001190995:exon14:c.T1418C:p.L473P,IPO8:NM_006390:exon18:c.T2033C:p.L678P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.892	0.137339324488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	1.368e-06	1.363e-06	1.377e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.995	0.67487	D	0.866	0.61580	P	0.000029	0.55875	D	0.069638	1	0.81001	D	2.425	0.70256	M	-1.14	0.77843	T	-4.91	0.81595	D	0.956	0.96644	0.243	0.86626	D	0.577	0.84734	D	10	0.88942885	0.88281	D	0.137339	0.81983	D	0.892	0.96910	0.668	0.80602	0.933692588658	0.93300	0.9368047090768441	0.93660	1.1376852004	0.78823	0.701777100563	0.67401	T	0.570853	0.85788	D	0.403674	0.90126	D	0.342074	0.90002	D	0.997799932956696	0.92438	D	0.862314	0.57764	D	0.912197	0.92501	0.8686161	0.92770	0.912197	0.92502	0.8686161	0.92770	-13.497	0.91450	D	.	.	0.981	0.91406	P	.;.	.;.	4.810978	0.78262	26.9	0.9991862913673617	0.98586	0.98866	0.87898	D	AEFGBI	0.932254	0.92233	D	0.697791110715825	0.79487	7.088084	0.656291767271212	0.79078	7.00735	0.999998863981713	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.82	4.82	0.61641	9.029000	0.93214	11.215000	0.89546	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.984000	0.60418	1.0:0.0:0.0:0.0	14.655	0.68431	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	240.28	17	chr12	30653008	.	A	G	240.28	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.943;DP=134;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.24;ReadPosRankSum=-1.611;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,946:.	5	0	1	1
chr12	31091731	31091731	C	T	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_001257144:exon10:c.C1102T:p.P368S,DDX11:NM_001257145:exon10:c.C1024T:p.P342S,DDX11:NM_004399:exon10:c.C1102T:p.P368S,DDX11:NM_030653:exon10:c.C1102T:p.P368S,DDX11:NM_152438:exon10:c.C1102T:p.P368S	Warsaw breakage syndrome, Autosomal recessive	1	1276	245	0	0	245	0.0875939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	.	.	0.0223642	0.0002	0.0003	0.0002	0.0005	0.0003	0.0002	0	0	0.0008409	130	154602	rs201612562	0.0006	0.0035	0.0005	0.0007	0.0033	0.0005	0.0005	0.0028	0.0027	0.0002	0.0033	0.0005	0.0016	0.0013	0.0006	0.0004	0.0005	0.0007	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.013	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.99	0.86255	D	0.000009	0.62929	D	0.114571	1	0.81001	D	.	.	.	1.14	0.38397	T	-7.74	0.95765	D	0.935	0.94668	-0.3380	0.73902	T	0.280	0.65170	T	10	0.0195221	0.00437	T	.	.	.	0.437	0.74164	.	.	0.584736501517	0.58146	0.856246594939591	0.85587	.	.	0.844346821308	0.88757	D	0.56607	0.85555	D	0.117933	0.66163	D	-0.0683742	0.65742	T	0.971576750278473	0.69369	D	0.946205	0.79675	D	0.8229996	0.85423	0.65729964	0.79931	0.8229996	0.85424	0.65729964	0.79931	-11.524	0.82967	D	.	.	0.597	0.70296	P	.;.;.;.	.;.;.;.	5.562741	0.92150	32	0.99906950704780995	0.97726	0.96748	0.70729	D	AEFBI	0.667814	0.63581	D	0.720063401293283	0.80945	7.408779	0.572471631206645	0.72975	5.895083	0.92097638106142	0.26654	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	3.05	3.05	0.34272	7.167000	0.77125	3.884000	0.40256	0.497000	0.22564	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	11.616	0.50348	976	0.04745	.;.;DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	109.44	125	chr12	31091731	.	C	T	109.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.573;DP=463;ExcessHet=0;FS=1.666;MLEAC=1;MLEAF=0.071;MQ=48.13;MQRankSum=-4.028;QD=0.88;ReadPosRankSum=-1.766;SOR=0.481	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	6	0	1	0
chr12	31094806	31094806	A	T	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_001257144:exon14:c.A1466T:p.N489I,DDX11:NM_001257145:exon14:c.A1388T:p.N463I,DDX11:NM_004399:exon14:c.A1466T:p.N489I,DDX11:NM_030653:exon14:c.A1466T:p.N489I,DDX11:NM_152438:exon14:c.A1466T:p.N489I	Warsaw breakage syndrome, Autosomal recessive	1	1516	5	0	0	5	0.00164636	.	.	.	1330213	Warsaw_breakage_syndrome	MONDO:MONDO:0013252,MedGen:C3150658,OMIM:613398,Orphanet:280558	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.379	0.0336406763837	.	.	0.0006	0	9.356e-05	0	0	0	0	0.0042	3.84e-05	1	26028	rs776193334	0.0002	0.0008	0.0001	0.0002	0.0026	0.0001	0.0001	0.0023	0.0022	0	4.473e-05	0	0	0	0	1.8e-06	0.0004	0.0026	3.284e-05	0.0001	1.285e-05	5.375e-05	0.0011	1.26e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0011	0.002	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	.	.	.	0.61	0.53516	T	-6.34	0.92042	D	0.908	0.90932	-0.4600	0.70067	T	0.308	0.67858	T	10	0.23459291	0.40502	T	0.033641	0.55122	D	0.379	0.69696	0.533	0.64148	0.660534388617	0.65769	0.6708126339766729	0.67019	.	.	0.595161437988	0.52222	T	0.435352	0.78212	T	0.153624	0.69607	D	-0.0171069	0.69218	D	0.872565865516663	0.52244	D	0.952005	0.81587	D	0.7486451	0.80790	0.6397418	0.78956	0.7486451	0.80791	0.6397418	0.78957	-16.492	0.98439	D	.	.	0.740	0.76085	P	.;.;.;.	.;.;.;.	5.158755	0.86435	28.9	0.99227692799103306	0.56120	0.98117	0.79742	D	AEFBI	0.857164	0.77450	D	0.659698480493268	0.76997	6.590828	0.538147846011196	0.70579	5.525704	0.391484008741092	0.20051	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.23	3.23	0.36150	7.982000	0.87742	10.853000	0.83948	0.621000	0.51759	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	1.0:0.0:0.0:0.0	9.585	0.38677	976	0.04745	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	667.44	66	chr12	31094806	.	A	T	667.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.289;DP=505;ExcessHet=0;FS=0.606;MLEAC=1;MLEAF=0.071;MQ=54.62;MQRankSum=-3.186;QD=3.37;ReadPosRankSum=3.08;SOR=0.75	GT:AD:DP:GQ:PL	0/0:111,0:111:99:0,120,1800	6	0	1	0
chr12	31103620	31103620	C	T	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_001257144:exon26:c.C2575T:p.P859S,DDX11:NM_152438:exon26:c.C2575T:p.P859S	Warsaw breakage syndrome, Autosomal recessive	1	1513	7	1	0	9	0.0029654	.	.	.	753333	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.025	0.023974955694	.	0.000599042	0.0002	0	0	0	0	0	0	0.0018	0.0002135	33	154602	rs573376748	9.577e-05	9.713e-05	5.173e-05	0.0001	0.0014	8.243e-05	7.783e-05	0.0012	0.0012	0	0	0	0	0	0.0007	5.396e-06	8.28e-05	0.0014	5.254e-05	5.249e-05	1.285e-05	9.404e-05	0.0017	2.556e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.0	0.91255	D	0.341	0.17964	T	0.259	0.31472	B	0.043	0.24256	B	.	.	.	.	1	0.81001	D	.	.	.	-0.5	0.70480	T	1.07	0.01280	N	0.189	0.20660	-0.9974	0.30646	T	0.143	0.46532	T	8	0.010868996	0.00240	T	0.023975	0.46960	T	0.086	0.25016	0.283	0.23961	0.717923940725	0.71544	0.23206158197292268	0.23121	.	.	0.464127600193	0.33876	T	0.033537	0.22955	T	-0.317387	0.07114	T	-0.253308	0.49490	T	0.12643375306976	0.15049	T	0.471653	0.14010	T	0.08596502	0.19964	0.10656963	0.25640	0.08596502	0.19963	0.10656963	0.25639	-4.181	0.26476	T	.	.	0.074	0.04975	B	.	.	0.496982	0.08661	5.432	0.99828739275634693	0.91112	0.31308	0.24304	N	AEFDBHCI	0.067927	0.13377	N	-0.342966262879636	0.27532	1.511257	-0.428045466727937	0.24178	1.322567	0.997433507395167	0.35614	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.563494	0.21769	0	.	.	3.14	2.24	0.27264	-0.387000	0.07419	-0.286000	0.10231	0.418000	0.20770	0.395000	0.26129	0.004000	0.18990	0.776000	0.36750	0.0:0.6303:0.2345:0.1352	4.386	0.10746	976	0.04745	ATP-dependent helicase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000529	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	1622.63	44	chr12	31103620	.	C	T	1622.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.068;DP=367;ExcessHet=0;FS=4.637;MLEAC=1;MLEAF=0.071;MQ=56.56;MQRankSum=-7.38;QD=13.52;ReadPosRankSum=-2.748;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:54,0:54:99:.:.:0,120,1800:.	6	0	1	0
chr12	31662099	31662099	C	T	exonic	ETFBKMT	.	nonsynonymous SNV	ETFBKMT:NM_001135863:exon2:c.C146T:p.A49V,ETFBKMT:NM_001135864:exon2:c.C146T:p.A49V,ETFBKMT:NM_173802:exon2:c.C146T:p.A49V	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.0355347420345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.91255	T	0.143	0.92824	T	0.706	0.42003	P	0.23	0.38212	B	0.003778	0.34511	N	0.314600	0.925267	0.36800	D	.	.	.	.	.	.	-1.82	0.74051	N	0.414	0.46835	-0.4529	0.70304	T	0.217	0.57863	T	9	0.22929928	0.39854	T	0.035535	0.56409	D	0.139	0.37390	0.343	0.33626	0.0884992946249	0.08302	0.26221385408481795	0.26134	0.0464259818516	0.05045	0.444821208715	0.31236	T	0.016857	0.13851	T	0.0261742	0.55212	T	-0.200179	0.54630	T	0.899968683719635	0.55238	D	0.760524	0.43505	T	0.11634218	0.27443	0.16310912	0.37854	0.11634218	0.27443	0.16310912	0.37853	-4.923	0.35993	T	.	.	0.091	0.22573	B	.;.;.;.;.;.	.;.;.;.;.;.	1.942690	0.24678	16.48	0.99718957691991894	0.81914	0.76303	0.37412	D	AEFDBI	0.129610	0.24786	N	0.158228642470679	0.49202	3.12326	0.144967502335954	0.46875	2.926537	0.999950853887353	0.48110	0.562547	0.31514	0	0.596877	0.49441	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	4.5	4.5	0.54382	1.450000	0.34745	0.466000	0.18665	0.581000	0.30040	0.794000	0.29644	0.054000	0.21897	0.232000	0.22788	0.0:1.0:0.0:0.0	15.553	0.75902	911	0.21964	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1454.44	128	chr12	31662099	.	C	T	1454.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.073;DP=321;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=1.15;SOR=0.701	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1429	6	0	1	0
chr12	31982930	31982930	G	C	exonic	RESF1	.	nonsynonymous SNV	RESF1:NM_018169:exon4:c.G1975C:p.G659R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00552625962311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.91255	D	0.053	0.92824	T	0.612	0.39723	P	0.203	0.37000	B	0.406905	0.13049	N	0.633652	1	0.08975	N	1.59	0.40313	L	3.79	0.09450	T	-1.98	0.65283	N	0.101	0.08366	-1.0526	0.13682	T	0.029	0.12453	T	9	0.11295846	0.21205	T	0.005526	0.14227	T	0.054	0.15330	0.11	0.02049	0.270889551736	0.26708	0.13982753101354015	0.13905	0.0117517464384	0.01108	0.23748268187	0.02568	T	0.048737	0.28105	T	-0.233546	0.16181	T	-0.573249	0.15152	T	0.452127724885941	0.30875	T	0.492651	0.21138	T	0.08083601	0.18542	0.082108565	0.18713	0.08083601	0.18542	0.082108565	0.18712	-3.796	0.20745	T	.	.	0.160	0.41541	B	.;.	.;.	2.838999	0.37451	20.5	0.99864726819372762	0.94276	0.34045	0.24974	N	AEFGBCI	0.062453	0.12006	N	-0.3139044885324	0.28618	1.580056	-0.371815587989421	0.25840	1.423587	0.994313354200577	0.33582	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.5	3.66	0.41111	0.790000	0.26562	4.969000	0.46388	-0.113000	0.14837	0.001000	0.13787	0.976000	0.30059	0.067000	0.16453	0.1641:0.0:0.8359:0.0	9.574	0.38610	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1041.45	41	chr12	31982930	.	G	C	1041.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.064;DP=439;ExcessHet=0;FS=0.697;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.9;ReadPosRankSum=-0.973;SOR=0.621	GT:AD:DP:GQ:PL	0/0:102,0:102:99:0,120,1800	6	0	1	0
chr12	31984133	31984133	A	G	exonic	RESF1	.	nonsynonymous SNV	RESF1:NM_018169:exon4:c.A3178G:p.K1060E	.	433	1073	16	0	0	16	0.00740056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.0020	0.00299521	0.0058	0.0004	0.0010	0	0.0106	0.0040	0.0121	0.0210	0.0051164	791	154602	rs78737813	0.0041	0.0041	0.0035	0.0047	0.0212	0.0040	0.0040	0.0204	0.0201	0.0004	0.0010	0.0003	0.0002	0.0104	0.0056	0.0030	0.0039	0.0212	0.0029	0.0029	0.0024	0.0035	0.0189	0.0027	0.0026	0.0157	0.0146	0.0002	0	0.0007	0.0006	0	0.0093	0	0.0034	0.0019	0.0189	0.046	0.40573	D	0.074	0.42976	T	0.323	0.33082	B	0.073	0.28123	B	0.043789	0.23704	N	0.402050	0.995831	0.23188	N	1.75	0.45442	L	1.95	0.22474	T	-2.92	0.61129	D	0.354	0.39558	-1.0521	0.13818	T	0.040	0.17106	T	9	0.007663965	0.00174	T	.	.	.	0.026	0.05648	.	.	0.154104182512	0.14974	0.4312716726819004	0.43044	0.024555667794	0.02494	0.361968308687	0.19672	T	0.025851	0.19251	T	-0.541556	0.00328	T	-0.533765	0.18912	T	0.0211425865757909	0.00816	T	0.577942	0.20808	T	0.23973441	0.46867	0.2556322	0.51248	0.23973441	0.46867	0.2556322	0.51248	-3.872	0.21884	T	.	.	0.121	0.25265	B	.	.	3.033385	0.40645	21.2	0.99732809263607347	0.82904	0.43146	0.27034	N	AEFGBCI	0.037849	0.05269	N	-0.191140723612157	0.33502	1.901415	-0.104619187741372	0.35204	2.033924	0.999139062489065	0.38535	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.57	2.89	0.32713	1.101000	0.30650	4.663000	0.44246	0.756000	0.94297	0.992000	0.37556	1.000000	0.68203	0.957000	0.51019	0.7627:0.0:0.2373:0.0	8.287	0.31097	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.006793	0.002924	0.000000	0.000000	0.000000	0.018939	0.07143	1391.83	41	chr12	31984133	.	A	G	1391.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.5;DP=383;ExcessHet=0;FS=0.701;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-1.406;SOR=0.839	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	6	0	1	0
chr12	31985100	31985100	T	C	exonic	RESF1	.	nonsynonymous SNV	RESF1:NM_018169:exon4:c.T4145C:p.V1382A	.	425	1096	1	0	0	1	0.000455996	.	.	.	3593365	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.008	0.00626144215665	.	.	8.796e-05	0	0	0	0.0003	9.269e-05	0	0.0002	7.12e-05	11	154602	rs763866062	3.91e-05	3.899e-05	3.663e-05	4.161e-05	0.0003	3.075e-05	2.76e-05	0.0002	0.0001	0	0	0	0	0.0003	0	1.098e-05	0.0001	0.0003	1.972e-05	1.97e-05	1.285e-05	2.691e-05	.	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0.0002	0	0	0.0005	0	0.179	0.22053	T	0.639	0.06992	T	0.187	0.29285	B	0.058	0.26451	B	0.039599	0.01866	N	2.080600	1	0.08975	N	0.895	0.22405	L	2.74	0.11730	T	-1.71	0.40660	N	0.052	0.02366	-1.0304	0.20325	T	0.020	0.08407	T	9	0.039524198	0.02449	T	0.006261	0.16435	T	0.008	0.00669	.	.	0.0666544352282	0.05500	0.05281223390057969	0.05223	0.00918750411922	0.00832	0.293908953667	0.09496	T	0.009517	0.08662	T	-0.5817	0.00188	T	-0.799048	0.01926	T	0.0354248397052288	0.02880	T	0.217178	0.02724	T	0.044400882	0.07090	0.03557156	0.02835	0.044400882	0.07090	0.03557156	0.02835	-3.766	0.20297	T	.	.	0.201	0.42549	B	.	.	0.413752	0.07843	4.542	0.64795127092172167	0.07592	0.08242	0.14196	N	AEFDGBCI	0.032000	0.03531	N	-1.11579226428155	0.06362	0.2926354	-1.20786186386973	0.05783	0.2765089	0.982907611093672	0.30474	0.634777	0.41761	0	0.606735	0.50208	0	0.643519	0.47002	0	0.645665	0.59343	0	.	.	4.86	-3.69	0.04162	-0.586000	0.05880	-1.166000	0.06138	-0.115000	0.14600	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1168:0.3534:0.1193:0.4104	2.801	0.05081	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	200.49	37	chr12	31985100	.	T	C	200.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.62;DP=313;ExcessHet=0;FS=1.361;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.46;ReadPosRankSum=-0.341;SOR=0.458	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	6	0	1	0
chr12	32640381	32640381	G	A	exonic	FGD4	.	nonsynonymous SNV	FGD4:NM_001370297:exon15:c.G1597A:p.V533M,FGD4:NM_001330373:exon16:c.G1870A:p.V624M,FGD4:NM_001330374:exon16:c.G1870A:p.V624M,FGD4:NM_001384130:exon16:c.G1870A:p.V624M,FGD4:NM_001304480:exon17:c.G2485A:p.V829M,FGD4:NM_001304481:exon17:c.G2404A:p.V802M,FGD4:NM_001370298:exon17:c.G2560A:p.V854M,FGD4:NM_001384126:exon17:c.G2560A:p.V854M,FGD4:NM_001384127:exon17:c.G2149A:p.V717M,FGD4:NM_001384128:exon17:c.G2149A:p.V717M,FGD4:NM_001385118:exon17:c.G2149A:p.V717M,FGD4:NM_139241:exon17:c.G2149A:p.V717M,FGD4:NM_001304484:exon18:c.G1117A:p.V373M	Charcot-Marie-Tooth disease, type 4H, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	186165	FGD4-related_disorder|Charcot-Marie-Tooth_disease_type_4|not_provided|not_specified|Inborn_genetic_diseases|Charcot-Marie-Tooth_disease_type_4H	.|MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012250,MedGen:C1836336,OMIM:609311,Orphanet:99954	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.125	0.00826232211943	0.0012	0.00139776	0.0013	9.61e-05	0.0006	0.0006	0.0006	0.0019	0.0011	0.0010	0.0013454	208	154602	rs61753359	0.0015	0.0015	0.0014	0.0016	0.0201	0.0015	0.0015	0.0171	0.0160	0.0008	0.0007	0.0003	0.0002	0.0009	0.0201	0.0016	0.0020	0.0009	0.0013	0.0013	0.0012	0.0013	0.0021	0.0011	0.0011	0.0018	0.0017	0.0003	0	0.0006	0.0003	0.0008	0.0004	0.0272	0.0021	0.0014	0.0012	0.03	0.45393	D	0.058	0.50226	T	0.948	0.77913	P	0.75	0.65636	P	0.006600	0.31929	N	0.140778	0.870874	0.36596	D	1.915	0.51223	L	2.52	0.14160	T	-0.83	0.23590	N	0.318	0.35832	-1.0847	0.06462	T	0.084	0.32843	T	10	0.016922116	0.00358	T	0.008262	0.21878	T	0.125	0.34456	.	.	0.505335117028	0.50172	0.2463700723692649	0.24551	0.937855584435	0.72103	0.680934786797	0.64402	T	0.284299	0.65707	T	-0.45189	0.01101	T	-0.42867	0.30086	T	0.0404050718974868	0.03763	T	0.885811	0.62583	D	0.113321856	0.26766	0.10239986	0.24541	0.113321856	0.26766	0.10239986	0.24541	-6.461	0.49984	T	.	.	0.112	0.27791	B	.;.;.;.;.	.;.;.;.;.	4.315470	0.66008	24.9	0.99835817012143424	0.91714	0.90895	0.52464	D	AEFDBI	0.319492	0.42288	N	0.447156447640376	0.64040	4.650083	0.425038762448266	0.63131	4.540651	0.19182892424682	0.18009	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.31	4.39	0.52211	2.675000	0.46541	8.568000	0.77594	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.1378:0.8622:0.0	15.656	0.76891	906	0.23090	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|FGD1-4, C-terminal PH domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|FGD1-4, C-terminal PH domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|FGD1-4, C-terminal PH domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|FGD1-4, C-terminal PH domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|FGD1-4, C-terminal PH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.000000	0.020380	0.017544	0.000000	0.017241	0.003049	0.000000	0.07143	1554.44	33	chr12	32640381	.	G	A	1554.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.53;DP=351;ExcessHet=0;FS=2.962;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.6;ReadPosRankSum=0.595;SOR=0.973	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1162	6	0	1	0
chr12	38320232	38320232	C	A	exonic	ALG10B	.	nonsynonymous SNV	ALG10B:NM_001013620:exon3:c.C441A:p.N147K	.	2	1519	1	0	0	1	0.000329056	.	.	.	3275245	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.0106219043285	.	0.000399361	9.916e-05	0	0	0	0	1.501e-05	0	0.0007	9.06e-05	14	154602	rs569115371	3.147e-05	3.147e-05	2.314e-05	3.988e-05	0.0005	2.412e-05	2.158e-05	0.0003	0.0003	0	0	0	0	0	0.0003	8.994e-07	4.968e-05	0.0005	2.628e-05	2.625e-05	0	5.377e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.014	0.53172	D	0.017	0.60337	D	0.546	0.38028	P	0.288	0.40614	B	0.000015	0.62929	D	0.144815	0.982141	0.81001	D	2.52	0.73523	M	0.58	0.54149	T	-1.83	0.42957	N	0.389	0.43029	-1.0590	0.12007	T	0.119	0.41648	T	10	0.058752894	0.06956	T	0.010622	0.27366	T	0.079	0.23065	0.573	0.69695	0.578975642517	0.57568	0.7230941872931745	0.72253	0.113391225874	0.12803	0.565869688988	0.48095	T	0.010445	0.09434	T	-0.346529	0.04948	T	-0.374747	0.36335	T	0.184414066036339	0.19509	T	0.877212	0.59013	D	0.6488147	0.75301	0.54324543	0.73600	0.6488147	0.75302	0.54324543	0.73600	-9.974	0.73756	D	.	.	0.848	0.79631	P	.	.	2.699676	0.35258	19.85	0.98777521485026343	0.46080	0.63759	0.32190	D	AEFGI	0.102336	0.20531	N	-0.192705421175238	0.33436	1.897013	-0.204105042575053	0.31388	1.775911	0.0532603786959214	0.14933	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	3.26	0.423	0.15679	0.470000	0.21795	-0.023000	0.12899	-0.299000	0.06208	0.997000	0.40164	0.759000	0.26609	0.993000	0.69303	0.0:0.5073:0.0:0.4927	5.929	0.18365	867	0.32089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1004.44	33	chr12	38320232	.	C	A	1004.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.554;DP=262;ExcessHet=0;FS=1.866;MLEAC=1;MLEAF=0.071;MQ=53.69;MQRankSum=-0.085;QD=12.71;ReadPosRankSum=-0.084;SOR=0.456	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1247	6	0	1	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0443433292116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0002	4.1e-06	1.38e-06	3.612e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.462	0.12526	T	0.374	0.34192	B	0.326	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.89	0.74793	T	-0.46	0.14978	N	0.564	0.58798	-0.6019	0.64739	T	0.322	0.69134	T	10	0.51726407	0.62438	D	0.044343	0.61442	D	0.252	0.56159	0.421	0.46365	0.695003275107	0.69237	0.8554796860303294	0.85510	0.415926434887	0.42235	0.617287814617	0.55346	T	0.14097	0.47579	T	0.161933	0.70380	D	-0.00517021	0.70000	D	0.952465236186981	0.63797	D	0.912409	0.68863	D	0.25600496	0.48637	0.19588253	0.43288	0.25600496	0.48637	0.19588253	0.43287	-8.267	0.62875	D	.	.	0.147	0.32493	B	.	.	3.372480	0.46612	22.3	0.9975783521054008	0.84772	0.94008	0.59836	D	AEFCI	0.740830	0.68496	D	0.145500679544335	0.48600	3.070197	0.293165215121814	0.55141	3.677321	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	398.42	26	chr12	39764776	.	G	C	398.42	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.419;DP=205;ExcessHet=6.1542;FS=279.101;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.33;ReadPosRankSum=0.832;SOR=8.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:20,12:32:29:.:.:29,0,278:.	1	0	5	1
chr12	39764778	39764778	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1526T:p.A509V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0177069271949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	0	1.377e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	6.581e-06	6.566e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.309	0.14064	T	0.311	0.19660	T	0.014	0.16867	B	0.05	0.25278	B	0.000013	0.62929	D	0.113054	0.999713	0.48481	D	.	.	.	-1.01	0.76168	T	-0.31	0.12099	N	0.257	0.29081	-0.7453	0.58180	T	0.273	0.64443	T	10	0.21655372	0.38241	T	0.017707	0.39515	T	0.203	0.48915	0.697	0.83406	0.151262610727	0.14761	0.7928660009766968	0.79239	0.224749101013	0.25008	0.54022371769	0.44477	T	0.147497	0.48561	T	-0.0588532	0.43086	T	-0.322315	0.42320	T	0.95820426940918	0.65209	D	0.889111	0.62070	D	0.12108061	0.28480	0.15200104	0.35782	0.12108061	0.28480	0.15200104	0.35781	-8.403	0.63785	D	.	.	0.247	0.48135	B	.	.	3.158678	0.42787	21.6	0.72433600078509297	0.09972	0.85720	0.44884	D	AEFCI	0.561062	0.56921	D	-0.0694159268393656	0.38738	2.273609	0.136951197838408	0.46454	2.891159	0.361488548204108	0.19782	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	4.49	0.54177	5.774000	0.68561	9.659000	0.81190	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0721:0.0:0.9279:0.0	14.373	0.66419	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	159.69	18	chr12	39764778	.	G	A	159.69	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.413;DP=173;ExcessHet=0.4139;FS=71.787;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=2.96;ReadPosRankSum=0.833;SOR=5.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:27,0:27:48:.:.:0,48,550:.	3	0	2	2
chr12	40408326	40408326	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	430	1059	31	2	0	35	0.0162564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00539137	0.0135	0.0053	0.0109	0	0	0.0030	0.0169	0.0177	0.0020375	315	154602	rs370137485	0.0062	0.0049	0.0057	0.0067	0.0196	0.0061	0.0060	0.0187	0.0184	0.0009	0.0024	0.0034	7.934e-05	0.0020	0.0078	0.0056	0.0058	0.0196	0.0043	0.0044	0.0046	0.0041	0.0166	0.0041	0.0040	0.0137	0.0126	0.0014	0.0658	0.0027	0.0035	0	0.0008	0.0136	0.0057	0.0038	0.0166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1128.46	33	chr12	40408326	.	C	T	1128.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.179;DP=270;ExcessHet=0;FS=0.784;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.845;SOR=0.568	GT:AD:DP:GQ:PL	0/1:47,48:95:99:1139,0,1055	6	0	1	0
chr12	40480993	40481003	TCTGTTGTGGG	-	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162942374	0	5.165e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0026	0.0075	0.0029	0.0022	0.0032	0.0023	0.0023	0.0024	0.0023	0.0021	0.0044	0.0032	0.0030	0.0024	0.0017	0.0034	0.0028	0.0025	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	64.4	238	chr12	40480992	.	ATCTGTTGTGGG	A	64.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.1;DP=1558;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.22;ReadPosRankSum=-1.408;SOR=0.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:345,0:345:99:.:.:0,120,1800:.	6	0	1	0
chr12	40483176	40483178	AAC	-	exonic	MUC19	.	unknown	UNKNOWN	.	543	923	56	0	0	56	0.0294427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1415489964	0	4.108e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0006	0.0049	0.0006	0.0007	0.0014	0.0005	0.0005	0.0009	0.0008	0.0005	0	0.0014	0.0006	0	0.0003	0	0.0007	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3738.2	674	chr12	40483175	.	GAAC	G	3738.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=11.31;DP=4231;ExcessHet=0.3476;FS=5.913;MLEAC=2;MLEAF=0.143;MQ=59.55;MQRankSum=-13.76;QD=2.14;ReadPosRankSum=-8.128;SOR=1.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:773,0:773:99:.:.:0,120,1800:.	5	0	2	0
chr12	40483177	40483177	A	0	exonic	MUC19	.	.	.	.	542	838	86	0	56	142	0.0488082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	51.83	674	chr12	40483177	.	A	*	51.83	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.66;DP=4236;ExcessHet=1.1394;FS=5.913;MLEAC=2;MLEAF=0.143;MQ=59.34;MQRankSum=-5.488;QD=0.03;ReadPosRankSum=-0.838;SOR=1.334	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:773,0:773:99:.:.:0,120,1800:.	5	0	2	0
chr12	40483182	40483208	AGCTGGGGTTACAGGGACAACTGAACT	-	exonic	MUC19	.	unknown	UNKNOWN	.	543	961	18	0	0	18	0.00927835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1244476502	0	4.106e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0043	0.0002	0.0003	0.0005	0.0002	0.0001	0.0003	0.0002	0.0002	0	0.0005	0.0003	0	0.0002	0	0.0002	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2489.4	674	chr12	40483181	.	CAGCTGGGGTTACAGGGACAACTGAACT	C	2489.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=11.22;DP=4215;ExcessHet=0;FS=4.265;MLEAC=1;MLEAF=0.071;MQ=59.41;MQRankSum=-17.16;QD=2.36;ReadPosRankSum=-11.5;SOR=1.131	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:773,0:773:99:.:.:0,120,1800:.	6	0	1	0
chr12	40483185	40483185	T	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	57.63	674	chr12	40483185	.	T	*	57.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.02;DP=4216;ExcessHet=0.3476;FS=4.271;MLEAC=1;MLEAF=0.071;MQ=59.32;MQRankSum=-5.377;QD=0.05;ReadPosRankSum=-2.06;SOR=1.176	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:773,0:773:99:.:.:0,120,1800:.	6	0	1	0
chr12	40483187	40483187	G	0	exonic	MUC19	.	.	.	.	541	952	11	0	18	29	0.00574413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	60.63	674	chr12	40483187	.	G	*	60.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.54;DP=4215;ExcessHet=0.3476;FS=4.271;MLEAC=1;MLEAF=0.071;MQ=59.3;MQRankSum=-5.321;QD=0.05;ReadPosRankSum=-1.61;SOR=1.173	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:773,0:773:99:.:.:0,120,1800:.	6	0	1	0
chr12	40483220	40483220	T	A	exonic	MUC19	.	unknown	UNKNOWN	.	543	941	36	2	0	40	0.0208117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0603377376754	.	0.00439297	.	.	.	.	.	.	.	.	0.0026894	70	26028	rs144440388	0.0013	0.0008	0.0013	0.0014	0.0111	0.0013	0.0013	0.0098	0.0093	0.0003	0.0020	0.0002	0.0066	0	0.0105	0.0011	0.0033	0.0111	0.0021	0.0021	0.0016	0.0025	0.0142	0.0019	0.0018	0.0115	0.0105	0.0003	0	0.0030	0	0.0097	0	0.0068	0.0018	0.0033	0.0142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	8522.44	674	chr12	40483220	.	T	A	8522.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.523;DP=3922;ExcessHet=0;FS=0.518;MLEAC=1;MLEAF=0.071;MQ=59.91;MQRankSum=0.63;QD=12.99;ReadPosRankSum=1.45;SOR=0.64	GT:AD:DP:GQ:PL	0/0:773,0:773:99:0,120,1800	6	0	1	0
chr12	40483663	40483663	-	C	exonic	MUC19	.	unknown	UNKNOWN	.	549	954	19	0	0	19	0.00985989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1228079559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.926e-05	0.0014	2.577e-05	9.425e-05	0.0004	3.083e-05	2.214e-05	0.0002	0.0001	0	0	0.0004	0	0	9.423e-05	0	2.951e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2292.4	633	chr12	40483663	.	G	GC	2292.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.76;DP=3940;ExcessHet=0;FS=0.706;MLEAC=1;MLEAF=0.071;MQ=57.79;MQRankSum=-19.51;QD=4.93;ReadPosRankSum=1.18;SOR=0.563	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:714,0:714:99:.:.:0,120,1800:.	6	0	1	0
chr12	40483664	40483664	-	GAAGTGACAGGGATAACTGGACTATCAGCTGTGCTGACAAGGACAACTGGGCCATCGGCTGTGGTGACAGAGACAACTGGACCAACTGGGGTGACAAGAATAACTGGACTATCAGCTGGAGTGACAGGGACAACTGGACTGTCGGCTGAAGTGACAGGGACAACTGGGCTATCAGC	exonic	MUC19	.	unknown	UNKNOWN	.	558	913	21	0	30	51	0.0113698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.126e-05	0.0017	3.511e-05	0.0001	0.0006	4.215e-05	3.16e-05	0.0003	0.0002	0	0	0.0006	0	0	0.0001	0	3.909e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2291.4	633	chr12	40483664	.	T	TGAAGTGACAGGGATAACTGGACTATCAGCTGTGCTGACAAGGACAACTGGGCCATCGGCTGTGGTGACAGAGACAACTGGACCAACTGGGGTGACAAGAATAACTGGACTATCAGCTGGAGTGACAGGGACAACTGGACTGTCGGCTGAAGTGACAGGGACAACTGGGCTATCAGC	2291.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.69;DP=3939;ExcessHet=0;FS=0.702;MLEAC=1;MLEAF=0.071;MQ=57.78;MQRankSum=-19.49;QD=4.94;ReadPosRankSum=-13.59;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:714,0:714:99:.:.:0,120,1800:.	6	0	1	0
chr12	40484740	40484740	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117001407581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	10766.4	1027	chr12	40484740	.	G	C	10766.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.604;DP=6709;ExcessHet=0;FS=0.52;MLEAC=1;MLEAF=0.071;MQ=59.9;MQRankSum=-0.326;QD=10.45;ReadPosRankSum=4.32;SOR=0.714	GT:AD:DP:GQ:PL	0/0:972,0:972:99:0,120,1800	6	0	1	0
chr12	40485204	40485204	T	A	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2933360	3.989e-06	2.78e-05	7.424e-06	0	4.362e-06	1.06e-06	3e-07	1.16e-06	3.2e-07	0	0	0	0	0	0	4.362e-06	0	0	5.98e-05	0.0007	3.901e-05	8.154e-05	0.0006	2.545e-05	1.708e-05	0.0001	4.478e-05	3.44e-05	0	0.0001	0	0.0006	0	0	4.553e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	310.16	503	chr12	40485204	.	T	A	310.16	.	AC=1;AF=0.125;AN=8;BaseQRankSum=3.91;DP=5986;ExcessHet=0;FS=13.528;MLEAC=1;MLEAF=0.125;MQ=58.15;MQRankSum=-17.41;QD=0.36;ReadPosRankSum=-12.13;SOR=1.136	GT:AD:DP:GQ:PL	0/1:779,91:1027:99:318,0,37866	3	0	1	3
chr12	40485210	40485210	-	CTGTCGGCTGAAGTGACAGGGACAACTGGG	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.436e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	803.05	503	chr12	40485210	.	A	ACTGTCGGCTGAAGTGACAGGGACAACTGGG	803.05	.	AC=1;AF=0.1;AN=10;BaseQRankSum=7.83;DP=4450;ExcessHet=0;FS=14.215;MLEAC=1;MLEAF=0.1;MQ=58.18;MQRankSum=-18.52;QD=0.92;ReadPosRankSum=-14.98;SOR=1.202	GT:AD:DP:GQ:PL	0/1:779,91:999:99:812,0,36642	4	0	1	2
chr12	40485670	40485670	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	629	889	1	2	1	6	0.00280426	.	.	.	3887255	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs374677579	4.265e-05	8.203e-05	4.195e-05	4.346e-05	4.662e-05	3.069e-05	2.708e-05	3.355e-05	2.96e-05	0	0	0	0	0	0	4.662e-05	0	0	0.0002	0.0076	0.0001	0.0003	0.0009	0.0001	0.0001	0.0002	0.0001	0.0003	0	0.0002	0	0	0.0001	0	0.0001	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1667	1645.77	311	chr12	40485670	.	A	G	1645.77	.	AC=2;AF=0.167;AN=12;DP=2930;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=37.81;QD=29.64;SOR=3.442	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1079,0:1079:99:.:.:0,120,1800:.	5	1	0	1
chr12	40485677	40485678	CT	-	exonic	MUC19	.	unknown	UNKNOWN	.	8	217	0	1	0	2	0.00458716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1373463433	6.268e-06	1.753e-05	9.318e-06	2.715e-06	6.853e-06	1.84e-06	1.33e-06	2.01e-06	1.46e-06	0	0	0	0	0	0	6.853e-06	0	0	4.163e-05	0.0005	4.07e-05	4.26e-05	0.0002	1.794e-05	1.181e-05	8.45e-06	3.16e-06	5.098e-05	0	0	0	0	9.662e-05	0	3.094e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	699.18	311	chr12	40485676	.	GCT	G	699.18	.	AC=2;AF=0.143;AN=14;DP=2904;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=38.88;QD=33.25;SOR=3.258	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1079,0:1079:99:.:.:0,120,1800:.	6	1	0	0
chr12	40486404	40486404	-	ATCA	exonic	MUC19	.	unknown	UNKNOWN	.	549	963	8	0	2	10	0.0041365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1303231972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0016	0.0002	6.792e-05	0.0002	7.163e-05	5.806e-05	7.974e-05	5.64e-05	0.0002	0	6.592e-05	0.0003	0	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1749.4	615	chr12	40486404	.	T	TATCA	1749.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=7.57;DP=5305;ExcessHet=0;FS=57.712;MLEAC=1;MLEAF=0.071;MQ=57.82;MQRankSum=-28.67;QD=1.78;ReadPosRankSum=-6.915;SOR=7.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1065,0:1065:99:.:.:0,120,1800:.	6	0	1	0
chr12	40486405	40486405	-	CTAGGGTGACAGAGAGTACTGGACTA	exonic	MUC19	.	unknown	UNKNOWN	.	561	947	5	0	9	14	0.00263296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215974695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0062	0.0010	0.0005	0.0033	0.0005	0.0005	0.0006	0.0003	0.0007	0	0.0013	0.0017	0	0	0	0.0008	0	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1903.8	617	chr12	40486405	.	G	GCTAGGGTGACAGAGAGTACTGGACTA	1903.8	.	AC=1;AF=0.25;AN=4;BaseQRankSum=9.52;DP=5377;ExcessHet=0;FS=57.712;MLEAC=2;MLEAF=0.5;MQ=57.76;MQRankSum=-28.5;QD=1.92;ReadPosRankSum=-12.18;SOR=7.978	GT:AD:DP:GQ:PL	./.:1100,0:1100:0:0,0,22236	1	0	1	5
chr12	40486643	40486643	-	CA	exonic	MUC19	.	unknown	UNKNOWN	.	521	915	2	0	84	86	0.0010917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.106e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0009	0.0001	0.0002	0.0004	0.0001	9.135e-05	0.0002	9.942e-05	8.187e-05	0	0.0004	0.0004	0	0.0003	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	285.79	688	chr12	40486643	.	C	CCA	285.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=12.59;DP=6121;ExcessHet=1.1394;FS=40.612;MLEAC=1;MLEAF=0.071;MQ=57.98;MQRankSum=-24.29;QD=0.09;ReadPosRankSum=6.54;SOR=4.73	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:1355,0:1547:99:0|1:40486559_GCT_G:3985,8063,64736:40486559	6	0	1	0
chr12	40486643	40486643	C	0	exonic	MUC19	.	.	.	.	521	915	2	0	84	86	0.0010917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	285.79	688	chr12	40486643	.	C	*	285.79	.	AC=2;AF=0.143;AN=14;BaseQRankSum=12.59;DP=6121;ExcessHet=1.1394;FS=40.612;MLEAC=2;MLEAF=0.143;MQ=57.98;MQRankSum=-24.29;QD=0.09;ReadPosRankSum=6.54;SOR=4.73	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1355,192:1547:99:0|1:40486559_GCT_G:3985,0,56095:40486559	5	0	2	0
chr12	40486644	40486644	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN	.	536	897	5	0	84	89	0.00277932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.413e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0011	0.0057	0.0009	0.0014	0.0043	0.0008	0.0006	0.0017	0.0011	0.0004	0	0.0043	0.0037	0	0.0032	0	0.0014	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	282.31	691	chr12	40486644	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	282.31	.	AC=1;AF=0.125;AN=8;BaseQRankSum=8.37;DP=6134;ExcessHet=1.1394;FS=40.612;MLEAC=1;MLEAF=0.125;MQ=57.98;MQRankSum=-24.22;QD=0.09;ReadPosRankSum=4.39;SOR=4.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:1355,0:1547:99:0|1:40486559_GCT_G:3985,8063,64736:40486559	3	0	1	3
chr12	40486644	40486644	T	0	exonic	MUC19	.	.	.	.	536	897	5	0	84	89	0.00277932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	282.31	691	chr12	40486644	.	T	*	282.31	.	AC=2;AF=0.25;AN=8;BaseQRankSum=8.37;DP=6134;ExcessHet=1.1394;FS=40.612;MLEAC=3;MLEAF=0.375;MQ=57.98;MQRankSum=-24.22;QD=0.09;ReadPosRankSum=4.39;SOR=4.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1355,192:1547:99:0|1:40486559_GCT_G:3985,0,56095:40486559	2	0	2	3
chr12	40486662	40486662	-	GCT	exonic	MUC19	.	unknown	UNKNOWN	.	515	928	21	0	58	79	0.0111881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1352773716	0	3.421e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0009	0.0001	0.0002	0.0004	0.0001	8.378e-05	0.0002	9.863e-05	5.377e-05	0	0.0004	0.0003	0	0.0003	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1106.35	670	chr12	40486662	.	G	GGCT	1106.35	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.38;DP=5846;ExcessHet=0.3476;FS=43.541;MLEAC=1;MLEAF=0.083;MQ=57.43;MQRankSum=-26.18;QD=0.69;ReadPosRankSum=-2.692;SOR=5.389	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:1263,0:1263:0:.:.:0,0,28210:.	5	0	1	1
chr12	40486662	40486662	G	0	exonic	MUC19	.	.	.	.	515	928	21	0	58	79	0.0111881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1106.35	670	chr12	40486662	.	G	*	1106.35	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.38;DP=5846;ExcessHet=0.3476;FS=43.541;MLEAC=1;MLEAF=0.083;MQ=57.43;MQRankSum=-26.18;QD=0.69;ReadPosRankSum=-2.692;SOR=5.389	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:1263,0:1263:0:.:.:0,0,28210:.	5	0	1	1
chr12	40486663	40486663	-	CCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN	.	608	828	5	0	81	86	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.282e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0011	0.0057	0.0008	0.0014	0.0042	0.0007	0.0006	0.0017	0.0011	0.0002	0	0.0042	0.0038	0	0.0031	0	0.0015	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1004.27	670	chr12	40486663	.	A	ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	1004.27	.	AC=1;AF=0.167;AN=6;BaseQRankSum=5;DP=5841;ExcessHet=0.3476;FS=43.244;MLEAC=1;MLEAF=0.167;MQ=57.49;MQRankSum=-25.9;QD=0.63;ReadPosRankSum=-10.56;SOR=5.337	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:1263,0:1263:0:.:.:0,0,28210:.	2	0	1	4
chr12	40486663	40486663	A	0	exonic	MUC19	.	.	.	.	608	828	5	0	81	86	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1004.27	670	chr12	40486663	.	A	*	1004.27	.	AC=1;AF=0.167;AN=6;BaseQRankSum=5;DP=5841;ExcessHet=0.3476;FS=43.244;MLEAC=1;MLEAF=0.167;MQ=57.49;MQRankSum=-25.9;QD=0.63;ReadPosRankSum=-10.56;SOR=5.337	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:1263,0:1263:0:.:.:0,0,28210:.	2	0	1	4
chr12	40486784	40486784	A	-	exonic	MUC19	.	unknown	UNKNOWN	.	552	968	2	0	0	2	0.00103199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	9819.4	532	chr12	40486783	.	GA	G	9819.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.196;DP=4699;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.41;MQRankSum=-1.622;QD=8.73;ReadPosRankSum=-0.357;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:984,0:984:99:.:.:0,120,1800:.	6	0	1	0
chr12	40486784	40486784	A	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	87968.7	542	chr12	40486784	.	A	*	87968.7	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.58;DP=4736;ExcessHet=0.3696;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.47;MQRankSum=-2.376;QD=28.43;ReadPosRankSum=-0.283;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:989:99:1|1:40486784_A_G:43943,43943,43943:40486784	6	0	1	0
chr12	40486785	40486785	T	G	exonic	MUC19	.	unknown	UNKNOWN	.	647	235	382	257	1	897	0.65593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.637e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	109111.0	542	chr12	40486785	.	T	G	109111.0	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.52;DP=4732;ExcessHet=0.3696;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.46;MQRankSum=-2.376;QD=28.95;ReadPosRankSum=-0.394;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:989:99:1|1:40486784_A_G:43943,43943,43943:40486784	6	0	1	0
chr12	40487346	40487346	A	T	exonic	MUC19	.	unknown	UNKNOWN	.	540	947	31	0	4	35	0.0161039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1326292392	0	1.325e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0031	0.0003	0.0003	0.0007	0.0002	0.0002	0.0002	0.0001	0.0001	0	0.0003	0.0004	0	0.0005	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	474.44	712	chr12	40487346	.	A	T	474.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.42;DP=5596;ExcessHet=0;FS=26.762;MLEAC=1;MLEAF=0.071;MQ=56.69;MQRankSum=-15.75;QD=1.05;ReadPosRankSum=4.61;SOR=3.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1010,0:1010:99:.:.:0,120,1800:.	6	0	1	0
chr12	40487347	40487347	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	538	950	30	0	4	34	0.015544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206361857	0	1.395e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0025	0.0002	0.0002	0.0005	0.0001	0.0001	0.0001	8.09e-05	0.0001	0	0.0002	0.0003	0	0.0003	0	0.0002	0.0011	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	462.44	712	chr12	40487347	.	G	C	462.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.965;DP=5600;ExcessHet=0;FS=26.601;MLEAC=1;MLEAF=0.071;MQ=56.72;MQRankSum=-15.82;QD=1.02;ReadPosRankSum=4.88;SOR=3.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1010,0:1010:99:.:.:0,120,1800:.	6	0	1	0
chr12	40487354	40487354	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	544	938	36	0	4	40	0.0188285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1265246174	0	6.857e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0041	0.0004	0.0004	0.0009	0.0003	0.0003	0.0002	0.0002	0.0003	0	0.0005	0.0005	0	0.0007	0	0.0004	0.0027	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	469.22	712	chr12	40487354	.	G	A	469.22	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.95;DP=5676;ExcessHet=0;FS=24.096;MLEAC=1;MLEAF=0.083;MQ=57.07;MQRankSum=-5.644;QD=1.04;ReadPosRankSum=6.12;SOR=3.15	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1010,0:1010:99:.:.:0,120,1800:.	5	0	1	1
chr12	40487370	40487370	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	530	937	55	0	0	55	0.0285122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434790702	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0028	0.0002	0.0002	0.0003	0.0001	0.0001	9.092e-05	6.022e-05	0.0001	0	0.0003	0.0003	0	0.0002	0	0.0001	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	455.22	732	chr12	40487370	.	C	G	455.22	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.73;DP=5616;ExcessHet=0;FS=24.096;MLEAC=1;MLEAF=0.083;MQ=56.27;MQRankSum=-17.28;QD=0.99;ReadPosRankSum=6.99;SOR=3.151	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1010,0:1010:99:.:.:0,120,1800:.	5	0	1	1
chr12	40487373	40487373	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	536	929	57	0	0	57	0.029765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1199349600	0	5.474e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0029	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	8.547e-05	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0002	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	454.22	718	chr12	40487373	.	A	G	454.22	.	AC=1;AF=0.083;AN=12;BaseQRankSum=5.23;DP=5604;ExcessHet=0;FS=24.142;MLEAC=1;MLEAF=0.083;MQ=56.17;MQRankSum=-17.27;QD=0.99;ReadPosRankSum=6.82;SOR=3.184	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1010,0:1010:99:.:.:0,120,1800:.	5	0	1	1
chr12	40487375	40487375	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	533	933	56	0	0	56	0.0291363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362941780	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0029	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	7.934e-05	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0002	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	476.22	719	chr12	40487375	.	G	C	476.22	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.115;DP=5599;ExcessHet=0;FS=24.096;MLEAC=1;MLEAF=0.083;MQ=56.17;MQRankSum=-17.56;QD=1.06;ReadPosRankSum=6.73;SOR=3.159	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1010,0:1010:99:.:.:0,120,1800:.	5	0	1	1
chr12	40487377	40487377	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	537	927	58	0	0	58	0.0303347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1471742152	0	3.832e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0031	0.0002	0.0002	0.0005	0.0002	0.0001	0.0002	0.0001	0.0001	0	0.0004	0.0003	0.0002	0.0002	0	0.0002	0.0020	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	482.22	728	chr12	40487377	.	C	G	482.22	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.44;DP=5608;ExcessHet=0;FS=24.096;MLEAC=1;MLEAF=0.083;MQ=56.07;MQRankSum=-17.64;QD=1.07;ReadPosRankSum=6.61;SOR=3.159	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1010,0:1010:99:.:.:0,120,1800:.	5	0	1	1
chr12	40487388	40487388	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	532	936	54	0	0	54	0.0280374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs552463164	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0030	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0001	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0003	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	507.23	741	chr12	40487388	.	C	G	507.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.89;DP=5615;ExcessHet=0;FS=26.842;MLEAC=1;MLEAF=0.083;MQ=56.03;MQRankSum=-18.55;QD=1.15;ReadPosRankSum=4.74;SOR=3.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1010,0:1010:99:.:.:0,120,1800:.	5	0	1	1
chr12	40487403	40487403	G	T	exonic	MUC19	.	unknown	UNKNOWN	.	531	933	58	0	0	58	0.0301455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1387815853	0	4.789e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0030	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0002	0.0001	0	0.0005	0.0003	0	0.0002	0	0.0003	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	481.23	753	chr12	40487403	.	G	T	481.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.1;DP=5649;ExcessHet=0;FS=26.687;MLEAC=1;MLEAF=0.083;MQ=55.77;MQRankSum=-19.25;QD=1.07;ReadPosRankSum=1.34;SOR=3.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1010,0:1010:99:.:.:0,120,1800:.	5	0	1	1
chr12	40487418	40487418	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	527	933	62	0	0	62	0.0321577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796103026	0	1.916e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0031	0.0005	0.0004	0.0009	0.0004	0.0004	0.0005	0.0004	0.0002	0	0.0009	0.0003	0	0.0004	0	0.0006	0.0020	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	439.23	771	chr12	40487418	.	G	C	439.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.014;DP=5805;ExcessHet=0;FS=24.142;MLEAC=1;MLEAF=0.083;MQ=55.63;MQRankSum=-19.58;QD=0.94;ReadPosRankSum=-2.335;SOR=3.68	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1010,0:1010:99:.:.:0,120,1800:.	5	0	1	1
chr12	40487421	40487421	-	CCCATCAGCTGAAGTGACAGGGCTACCTGGAGTGTCAGCTGGGGTGACAGGGAC	exonic	MUC19	.	unknown	UNKNOWN	.	528	938	56	0	0	56	0.0289855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0030	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0003	0.0002	0	0.0007	0.0006	0	0.0003	0	0.0005	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	386.4	759	chr12	40487421	.	G	GCCCATCAGCTGAAGTGACAGGGCTACCTGGAGTGTCAGCTGGGGTGACAGGGAC	386.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.734;DP=5823;ExcessHet=0;FS=24.096;MLEAC=1;MLEAF=0.071;MQ=55.33;MQRankSum=-19.42;QD=0.82;ReadPosRankSum=-5.225;SOR=3.61	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1010,0:1010:99:.:.:0,120,1800:.	6	0	1	0
chr12	40487422	40487422	-	CC	exonic	MUC19	.	unknown	UNKNOWN	.	529	936	57	0	0	57	0.029549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1289899653	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0042	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	0.0001	0	0.0003	0	0.0002	0	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	719.4	759	chr12	40487422	.	A	ACC	719.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.04;DP=5804;ExcessHet=0;FS=21.496;MLEAC=1;MLEAF=0.071;MQ=55.44;MQRankSum=-27.39;QD=0.73;ReadPosRankSum=9.18;SOR=3.404	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1010,0:1010:99:.:.:0,120,1800:.	6	0	1	0
chr12	40487424	40487424	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.211e-06	9.603e-06	2.25e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0003	0.0073	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0	0.0003	0.0005	0	0.0004	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	15468.5	661	chr12	40487424	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	15468.5	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.817;DP=6041;ExcessHet=4.7409;FS=9.147;MLEAC=3;MLEAF=0.25;MQ=55.93;MQRankSum=-7.108;QD=5.66;ReadPosRankSum=7.39;SOR=3.526	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1002,32:1037:99:.:.:5709,0,41416:.	2	0	4	1
chr12	40487442	40487442	-	GCT	exonic	MUC19	.	unknown	UNKNOWN	.	529	895	98	0	0	98	0.0519068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1210301375	1.2e-06	8.209e-06	2.23e-06	0	0.0009	0	0	.	.	0	0.0009	0	0	0	0	0	0	0	0.0006	0.0058	0.0005	0.0008	0.0009	0.0005	0.0005	0.0005	0.0005	0.0004	0	0.0009	0	0.0006	0.0011	0	0.0007	0.0010	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	338.29	732	chr12	40487442	.	G	GGCT	338.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-4.655;DP=5997;ExcessHet=0.3476;FS=6;MLEAC=2;MLEAF=0.143;MQ=56.85;MQRankSum=-25.75;QD=0.18;ReadPosRankSum=1.29;SOR=1.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1183,0:1183:99:.:.:0,120,1800:.	5	0	2	0
chr12	40487443	40487443	-	CCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN	.	536	681	142	0	163	305	0.0944149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-06	8.913e-06	2.247e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0009	0.0080	0.0007	0.0011	0.0013	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0013	0	0.0009	0.0016	0	0.0010	0.0013	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	12379.8	639	chr12	40487443	.	A	ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	12379.8	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.59;DP=6110;ExcessHet=4.7409;FS=5.959;MLEAC=4;MLEAF=0.333;MQ=56.39;MQRankSum=-20.6;QD=3.45;ReadPosRankSum=-1.927;SOR=1.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:994,32:1032:99:.:.:5843,0,40476:.	3	0	3	1
chr12	40488212	40488217	GGGGTG	-	exonic	MUC19	.	unknown	UNKNOWN	.	573	874	75	0	0	75	0.041141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1328022944	0	4.385e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0045	0.0004	0.0005	0.0005	0.0004	0.0003	0.0003	0.0003	0.0005	0	0.0005	0.0013	0	0.0004	0	0.0004	0.0010	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3487.68	340	chr12	40488211	.	TGGGGTG	T	3487.68	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-2.455;DP=4138;ExcessHet=1.1394;FS=5.453;MLEAC=3;MLEAF=0.214;MQ=57.73;MQRankSum=-15.92;QD=1.88;ReadPosRankSum=-4.326;SOR=1.408	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:261,0:261:99:.:.:0,119,1800:.	4	0	3	0
chr12	40488219	40488242	CAGAGACAACTGGACAATCAGCTG	-	exonic	MUC19	.	unknown	UNKNOWN	.	562	903	55	1	1	58	0.0305958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1486154631	0	3.663e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0040	0.0004	0.0005	0.0005	0.0003	0.0003	0.0003	0.0003	0.0005	0	0.0004	0.0013	0	0.0005	0	0.0004	0.0010	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3069.68	377	chr12	40488218	.	ACAGAGACAACTGGACAATCAGCTG	A	3069.68	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-2.03;DP=4157;ExcessHet=1.1394;FS=5.724;MLEAC=3;MLEAF=0.214;MQ=58.01;MQRankSum=-15.99;QD=1.54;ReadPosRankSum=-4.294;SOR=1.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:208,0:208:99:.:.:0,120,1800:.	4	0	3	0
chr12	40488222	40488222	A	0	exonic	MUC19	.	.	.	.	668	663	143	10	38	201	0.109469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	4245.33	377	chr12	40488222	.	A	*	4245.33	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.17;DP=4021;ExcessHet=3.1439;FS=4.948;MLEAC=2;MLEAF=0.167;MQ=58.27;MQRankSum=-14.66;QD=1.43;ReadPosRankSum=-3.365;SOR=1.16	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:175,0:175:0:.:.:0,0,0:.	4	0	2	1
chr12	40488224	40488224	A	0	exonic	MUC19	.	.	.	.	25	95	24	1	81	107	0.12037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	31631.5	377	chr12	40488224	.	A	*	31631.5	.	AC=2;AF=0.2;AN=10;BaseQRankSum=1.28;DP=4035;ExcessHet=1.383;FS=1.773;MLEAC=2;MLEAF=0.2;MQ=59.2;MQRankSum=15.9;QD=12.2;ReadPosRankSum=4.4;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:189,0:189:0:.:.:0,0,0:.	3	0	2	2
chr12	40488225	40488225	C	0	exonic	MUC19	.	.	.	.	637	844	2	0	39	41	0.00118343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	619.01	377	chr12	40488225	.	C	*	619.01	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.776;DP=3965;ExcessHet=1.1394;FS=6.239;MLEAC=2;MLEAF=0.143;MQ=55.75;MQRankSum=-14.7;QD=0.32;ReadPosRankSum=-6.958;SOR=1.287	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:159,0:159:62:.:.:0,62,5058:.	5	0	2	0
chr12	40488231	40488231	G	0	exonic	MUC19	.	.	.	.	640	765	79	12	26	129	0.0630741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	3467.54	377	chr12	40488231	.	G	*	3467.54	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.904;DP=3950;ExcessHet=1.383;FS=7.163;MLEAC=2;MLEAF=0.2;MQ=59.29;MQRankSum=-4.477;QD=1.34;ReadPosRankSum=-1.578;SOR=1.382	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:142,0:142:0:.:.:0,0,0:.	3	0	2	2
chr12	40488234	40488234	A	0	exonic	MUC19	.	.	.	.	655	769	59	13	26	111	0.0523722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3274.33	377	chr12	40488234	.	A	*	3274.33	.	AC=2;AF=0.167;AN=12;BaseQRankSum=4.29;DP=3914;ExcessHet=3.1439;FS=5.194;MLEAC=2;MLEAF=0.167;MQ=58.36;MQRankSum=-14.63;QD=1.12;ReadPosRankSum=-7.88;SOR=1.225	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:118,0:118:0:.:.:0,0,0:.	4	0	2	1
chr12	40488250	40488250	A	T	exonic	MUC19	.	unknown	UNKNOWN	.	590	918	12	0	2	14	0.00649351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1458586940	2.996e-05	0.0004	2.53e-05	3.537e-05	0.0125	1.96e-05	1.674e-05	0.0068	0.0052	0	0.0125	0	0.0009	0	0	5.951e-06	0.0001	0.0002	0.0039	0.0090	0.0031	0.0047	0.0330	0.0036	0.0035	0.0303	0.0292	0.0009	0	0.0330	0	0.0033	0.0043	0	0.0002	0.0051	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1143.21	299	chr12	40488250	.	A	T	1143.21	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.58;DP=3352;ExcessHet=0;FS=3.493;MLEAC=1;MLEAF=0.071;MQ=58.1;MQRankSum=-6.933;QD=1.26;ReadPosRankSum=-5.352;SOR=1.186	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:42:.:.:0,42,630:.	6	0	1	0
chr12	40488957	40488957	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	571	930	19	0	2	21	0.0101118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1177265796	0	2.268e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0008	0.0024	0.0007	0.0008	0.0023	0.0006	0.0006	0.0019	0.0018	0.0023	0	0.0007	0.0010	0	0	0	1.705e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	43.44	291	chr12	40488957	.	C	T	43.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.828;DP=3099;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.37;MQRankSum=-4.739;QD=1.4;ReadPosRankSum=-1.936;SOR=0.507	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:47,0:47:99:.:.:0,120,1800:.	6	0	1	0
chr12	40489087	40489087	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	611	871	12	28	0	68	0.0375691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1197637289	0	1.536e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0074	0.0002	0.0003	0.0004	0.0002	0.0002	0.0002	0.0001	0.0002	0	0.0004	0.0004	0	0.0004	0	0.0003	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	384.21	232	chr12	40489087	.	C	G	384.21	.	AC=2;AF=0.143;AN=14;DP=2795;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=32.3;QD=30.12;SOR=4.615	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,9:9:27:1|1:40489054_G_T:405,27,0:40489054	6	1	0	0
chr12	40489098	40489098	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	624	863	11	24	0	59	0.0330532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs186762951	0	9.509e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0021	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	0.0002	0	0.0005	0	0	0.0003	0	7.71e-05	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	249.25	232	chr12	40489098	.	T	C	249.25	.	AC=2;AF=0.143;AN=14;DP=2791;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=35.33;QD=28.81;SOR=3.912	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,6:6:18:1|1:40489054_G_T:270,18,0:40489054	6	1	0	0
chr12	40489579	40489788	TGGACTATCAACTGGGGTGACAGGGATAGCTGGACACTCAGCTGCGGTGACAGGGATAACTAGACCATCAGCTGGAGTGACAGGGACAACCACAGTATCAGCTGGAGTAACAGGGACAATTGGACTATCAGCTGAAGCAACAGGGATAACTCTACCATCAGCTGGGGTGACAGAGACAACTGGACTATCTGCTGGAGTGACAGAAACAAT	-	exonic	MUC19	.	unknown	UNKNOWN	.	559	962	1	0	0	1	0.000519481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.948e-06	4.802e-06	4.602e-06	5.349e-06	5.409e-06	1.16e-06	7.8e-07	1.27e-06	8.5e-07	0	0	0	0	0	0	5.409e-06	0	0	0	3.352e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1506.4	250	chr12	40489578	.	CTGGACTATCAACTGGGGTGACAGGGATAGCTGGACACTCAGCTGCGGTGACAGGGATAACTAGACCATCAGCTGGAGTGACAGGGACAACCACAGTATCAGCTGGAGTAACAGGGACAATTGGACTATCAGCTGAAGCAACAGGGATAACTCTACCATCAGCTGGGGTGACAGAGACAACTGGACTATCTGCTGGAGTGACAGAAACAAT	C	1506.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.201;DP=3022;ExcessHet=0;FS=4.628;MLEAC=1;MLEAF=0.071;MQ=44.04;MQRankSum=-7.863;QD=11.16;ReadPosRankSum=-9.18;SOR=1.175	GT:AD:DP:GQ:PL	0/1:42,93:135:99:1517,0,1249	6	0	1	0
chr12	40489602	40489602	G	0	exonic	MUC19	.	.	.	.	586	533	254	148	1	551	0.340347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	68860.2	255	chr12	40489602	.	G	*	68860.2	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.6;DP=3116;ExcessHet=0.0921;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.73;MQRankSum=4.9;QD=30.35;ReadPosRankSum=1.43;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:42,93:135:99:.:.:1517,0,1249:.	6	0	1	0
chr12	40489723	40489723	G	0	exonic	MUC19	.	.	.	.	636	835	24	18	9	69	0.0346821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	10683.6	235	chr12	40489723	.	G	*	10683.6	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.154;DP=3038;ExcessHet=0.3476;FS=1.098;MLEAC=1;MLEAF=0.071;MQ=59.94;MQRankSum=1.86;QD=11.57;ReadPosRankSum=-0.563;SOR=0.785	GT:AD:DP:GQ:PL	0/1:42,93:135:99:1517,0,1249	6	0	1	0
chr12	40489783	40489783	A	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	84246.9	228	chr12	40489783	.	A	*	84246.9	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.11;DP=3177;ExcessHet=0.3476;FS=0.788;MLEAC=1;MLEAF=0.071;MQ=59.87;MQRankSum=-0.125;QD=27.41;ReadPosRankSum=1.37;SOR=0.586	GT:AD:DP:GQ:PL	0/1:42,93:135:99:1517,0,1249	6	0	1	0
chr12	40490286	40490286	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	595	902	19	0	6	25	0.0104224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186244381	1.359e-06	0.0003	2.527e-06	0	6.872e-05	0	0	.	.	6.872e-05	0	0	0	0	0	0	0	0	0.0003	0.0084	0.0002	0.0003	0.0018	0.0002	0.0002	0.0011	0.0009	0.0001	0.0016	0.0018	0	0.0009	0.0001	0	4.372e-05	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	104.44	507	chr12	40490286	.	C	T	104.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.867;DP=4265;ExcessHet=0;FS=2.439;MLEAC=1;MLEAF=0.071;MQ=51.98;MQRankSum=-11.39;QD=0.13;ReadPosRankSum=-0.04;SOR=1.288	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:922,0:922:99:.:.:0,120,1800:.	6	0	1	0
chr12	40490287	40490287	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	589	899	19	0	15	34	0.0104568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1314271449	1.355e-06	0.0003	2.518e-06	0	6.852e-05	0	0	.	.	6.852e-05	0	0	0	0	0	0	0	0	0.0002	0.0076	0.0002	0.0003	0.0014	0.0002	0.0001	0.0009	0.0007	9.404e-05	0.0015	0.0014	0	0.0006	0.0001	0	5.854e-05	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	122.44	507	chr12	40490287	.	A	G	122.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.155;DP=4258;ExcessHet=0;FS=2.439;MLEAC=1;MLEAF=0.071;MQ=51.94;MQRankSum=-11.35;QD=0.15;ReadPosRankSum=0.278;SOR=1.296	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:922,0:922:99:.:.:0,120,1800:.	6	0	1	0
chr12	40490465	40490465	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	544	977	1	0	0	1	0.000511509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1033438175	0.0001	8.966e-05	0.0001	0.0002	0.0030	0.0001	0.0001	0.0012	0.0010	0	0.0030	0.0004	0	0	0	8.801e-05	0.0005	0.0016	0.0002	0.0002	0.0001	0.0003	0.0017	0.0002	0.0001	0.0008	0.0006	7.218e-05	0	0.0006	0.0006	0	0	0	0.0001	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	9464.44	356	chr12	40490465	.	G	C	9464.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.4;DP=2960;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=1.04;QD=12.64;ReadPosRankSum=1.09;SOR=0.702	GT:AD:DP:GQ:PL	0/0:623,0:623:99:0,120,1800	6	0	1	0
chr12	40490978	40490978	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	551	935	33	1	2	37	0.0183727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00419329	.	.	.	.	.	.	.	.	0.0025742	67	26028	rs144654701	0.0014	0.0008	0.0014	0.0014	0.0116	0.0013	0.0013	0.0103	0.0097	0.0003	0.0021	0.0002	0.0067	0	0.0107	0.0011	0.0034	0.0116	0.0020	0.0020	0.0016	0.0025	0.0139	0.0018	0.0018	0.0112	0.0102	0.0003	0	0.0030	0	0.0094	0	0.0068	0.0018	0.0033	0.0139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	7939.23	421	chr12	40490978	.	G	A	7939.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.61;DP=3413;ExcessHet=0;FS=1.741;MLEAC=1;MLEAF=0.083;MQ=59.58;MQRankSum=-1.844;QD=12.89;ReadPosRankSum=-0.765;SOR=0.822	GT:AD:DP:GQ:PL	./.:827,0:827:0:0,0,12970	5	0	1	1
chr12	40509053	40509053	T	A	exonic	MUC19	.	unknown	UNKNOWN	.	561	887	71	3	0	77	0.0415991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796340531	3.486e-05	0.0002	3.413e-05	3.563e-05	.	5.78e-06	2.16e-06	.	.	0	0	0	0	0.0004	0	0	0	0	5.923e-05	0.0006	5.149e-05	6.731e-05	0.0002	3.081e-05	2.213e-05	6.279e-05	4.297e-05	0.0001	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	287.97	115	chr12	40509053	.	T	A	287.97	.	AC=2;AF=0.333;AN=6;BaseQRankSum=0.24;DP=862;ExcessHet=0.3476;FS=1.595;MLEAC=3;MLEAF=0.5;MQ=59.37;MQRankSum=-11.1;QD=0.92;ReadPosRankSum=3.79;SOR=0.767	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,16:177:99:0|1:40509053_T_A:167,0,6651:40509053	1	0	2	4
chr12	40509056	40509056	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	559	887	73	3	0	79	0.0426336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1305621476	1.742e-05	0.0002	0	3.572e-05	.	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0005	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	284.97	110	chr12	40509056	.	G	A	284.97	.	AC=2;AF=0.333;AN=6;BaseQRankSum=0.757;DP=859;ExcessHet=0.3476;FS=1.594;MLEAC=3;MLEAF=0.5;MQ=59.36;MQRankSum=-11.14;QD=0.9;ReadPosRankSum=3.92;SOR=0.772	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,16:177:99:0|1:40509053_T_A:167,0,6672:40509053	1	0	2	4
chr12	40509061	40509061	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	557	891	71	3	0	77	0.0414201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1348486958	3.908e-05	0.0002	3.806e-05	4.015e-05	2.421e-05	6.48e-06	2.42e-06	.	.	0	0	0	0	0.0002	0	2.421e-05	0	0	9.211e-05	0.0006	9.011e-05	9.421e-05	0.0003	5.535e-05	4.37e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	247.97	115	chr12	40509061	.	G	C	247.97	.	AC=2;AF=0.333;AN=6;BaseQRankSum=0.556;DP=869;ExcessHet=0.3476;FS=2.586;MLEAC=3;MLEAF=0.5;MQ=59.43;MQRankSum=-11.27;QD=0.78;ReadPosRankSum=3.84;SOR=0.891	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,15:178:99:0|1:40509053_T_A:139,0,6799:40509053	1	0	2	4
chr12	40509062	40509062	A	C	exonic	MUC19	.	unknown	UNKNOWN	.	557	890	72	3	0	78	0.0419806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239171133	3.865e-05	0.0002	3.759e-05	3.976e-05	2.401e-05	6.41e-06	2.4e-06	.	.	0	0	0	0	0.0002	0	2.401e-05	0	0	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	250.97	115	chr12	40509062	.	A	C	250.97	.	AC=2;AF=0.333;AN=6;BaseQRankSum=1.25;DP=869;ExcessHet=0.3476;FS=2.595;MLEAC=3;MLEAF=0.5;MQ=59.43;MQRankSum=-11.27;QD=0.79;ReadPosRankSum=3.83;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,15:177:99:0|1:40509053_T_A:142,0,6757:40509053	1	0	2	4
chr12	40509076	40509076	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	553	907	60	2	0	64	0.0340788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796925819	3.366e-05	0.0002	6.615e-05	0	5.131e-05	0	0	.	.	0	0	0	0	0	0	5.131e-05	0	0	6.575e-06	0.0004	0	1.345e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	103.97	118	chr12	40509076	.	G	A	103.97	.	AC=2;AF=0.333;AN=6;BaseQRankSum=1.09;DP=885;ExcessHet=0.3476;FS=1.649;MLEAC=3;MLEAF=0.5;MQ=59.49;MQRankSum=-11.5;QD=0.31;ReadPosRankSum=3.12;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,15:187:72:0|1:40509076_G_A:72,0,6970:40509076	1	0	2	4
chr12	40509081	40509081	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	552	908	60	2	0	64	0.0340426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796068417	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	9.204e-05	0.0005	0.0001	8.068e-05	0.0003	5.531e-05	4.367e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	106.97	119	chr12	40509081	.	T	C	106.97	.	AC=2;AF=0.333;AN=6;BaseQRankSum=1.62;DP=892;ExcessHet=0.3476;FS=1.647;MLEAC=3;MLEAF=0.5;MQ=59.49;MQRankSum=-11.46;QD=0.32;ReadPosRankSum=2.48;SOR=0.91	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,15:187:72:0|1:40509076_G_A:72,0,6972:40509076	1	0	2	4
chr12	40511000	40511000	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	543	846	132	1	0	134	0.0733844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1334958236	0	2.394e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	3.398e-05	0.0059	1.325e-05	5.579e-05	0.0002	1.294e-05	8.22e-06	.	.	2.479e-05	0	6.864e-05	0	0	9.885e-05	0	0	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	164.49	36	chr12	40511000	.	A	G	164.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.06;DP=473;ExcessHet=0;FS=13.671;MLEAC=1;MLEAF=0.071;MQ=58.88;MQRankSum=-9.566;QD=0.78;ReadPosRankSum=-1.74;SOR=2.088	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,99,1485:.	6	0	1	0
chr12	40512188	40512188	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	514	986	22	0	0	22	0.0110331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs192318184	0.0003	0.0002	0.0003	0.0004	0.0117	0.0003	0.0003	0.0104	0.0099	0.0001	0.0020	0	0	0	0.0056	5.644e-05	0.0014	0.0117	0.0006	0.0006	0.0002	0.0009	0.0114	0.0005	0.0004	0.0090	0.0081	0	0	0.0005	0.0003	0	9.418e-05	0	0.0002	0.0019	0.0114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	383.44	73	chr12	40512188	.	G	A	383.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.488;DP=643;ExcessHet=0;FS=1.093;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.61;ReadPosRankSum=0.446;SOR=0.93	GT:AD:DP:GQ:PL	0/0:141,0:141:99:0,120,1800	6	0	1	0
chr12	40534711	40534711	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	444	1047	30	1	0	32	0.0150517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0076	0	0.0050	0	0	0.0041	0.0069	0.0170	0.0008797	136	154602	rs200624352	0.0014	0.0015	0.0013	0.0015	0.0183	0.0013	0.0013	0.0153	0.0141	0.0002	0.0015	0.0038	0	9.606e-05	0.0183	0.0011	0.0024	0.0069	0.0012	0.0012	0.0011	0.0013	0.0056	0.0011	0.0010	0.0039	0.0034	0.0003	0	0.0018	0.0058	0.0002	0	0.0181	0.0012	0.0040	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	124.83	34	chr12	40534711	.	G	A	124.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.11;DP=193;ExcessHet=0;FS=2.533;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=1.19;SOR=0.707	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,101,1141	6	0	1	0
chr12	40545398	40545398	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	432	1073	17	0	0	17	0.00785945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	.	0.00159744	0.0025	0.0022	0	0	0.0006	0.0047	0	0.0017	0.000815	126	154602	rs182952935	0.0030	0.0024	0.0030	0.0031	0.0162	0.0029	0.0029	0.0131	0.0120	0.0010	0.0024	0.0087	0	0.0003	0.0162	0.0031	0.0030	0.0026	0.0025	0.0025	0.0027	0.0024	0.0037	0.0023	0.0022	0.0034	0.0032	0.0008	0.0044	0.0022	0.0075	0	0.0003	0.0204	0.0037	0.0038	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	527.45	37	chr12	40545398	.	G	A	527.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.182;DP=255;ExcessHet=0;FS=0.949;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.37;ReadPosRankSum=0.291;SOR=0.564	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1477	6	0	1	0
chr12	45891802	45891802	G	C	exonic	ARID2	.	nonsynonymous SNV	ARID2:NM_001347839:exon17:c.G4945C:p.V1649L,ARID2:NM_152641:exon17:c.G4945C:p.V1649L	.	433	1077	11	1	0	13	0.00599908	.	.	.	137311	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.222	0.0223764760044	0.0002	0.000998403	0.0013	9.621e-05	0.0010	0	0	0.0010	0.0022	0.0051	0.0011837	183	154602	rs201268655	0.0007	0.0007	0.0005	0.0009	0.0050	0.0006	0.0006	0.0046	0.0044	0.0002	0.0006	0.0007	0	1.872e-05	0.0047	0.0004	0.0008	0.0050	0.0005	0.0005	0.0003	0.0006	0.0048	0.0004	0.0004	0.0033	0.0028	0.0002	0	0.0005	0.0003	0	0	0	0.0005	0.0014	0.0048	0.1	0.32929	T	0.051	0.92824	T	0.217	0.32186	B	0.04	0.32387	B	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	1.04	0.26193	L	1.0	0.41392	T	-0.97	0.51646	N	0.74	0.79792	-1.0698	0.09458	T	0.100	0.37085	T	10	0.012111098	0.00262	T	0.022376	0.45263	T	0.222	0.51872	.	.	0.718575572554	0.71610	0.48737062560680344	0.48657	0.184298380875	0.20729	0.83280390501	0.86992	D	0.039466	0.25199	T	-0.143323	0.29361	T	0.0217533	0.71743	D	0.0539407879114151	0.06179	T	0.889011	0.66112	D	0.31849742	0.54512	0.21973705	0.46724	0.28788137	0.51795	0.21093398	0.45500	-9.742	0.72353	D	.	.	0.926	0.84845	P	.;.;.;.	.;.;.;.	4.081993	0.60724	24.3	0.98938570650694557	0.48902	0.99415	0.95738	D	AEFBI	0.878903	0.80446	D	0.190215641634862	0.50729	3.260232	0.352645208474332	0.58667	4.038622	0.999999972376364	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.17	5.17	0.70848	9.322000	0.95579	11.831000	0.97525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	19.028	0.92921	843	0.36859	Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005539	0.000000	0.001359	0.008772	0.000000	0.000000	0.012195	0.011364	0.08333	685.27	43	chr12	45891802	.	G	C	685.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.239;DP=220;ExcessHet=0;FS=1.267;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.94;ReadPosRankSum=-1.033;SOR=0.985	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1240	5	0	1	1
chr12	46779834	46779834	T	C	exonic	SLC38A4	.	nonsynonymous SNV	SLC38A4:NM_001143824:exon8:c.A604G:p.I202V,SLC38A4:NM_018018:exon9:c.A604G:p.I202V	.	428	1080	14	0	0	14	0.00643974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	0.0046	0.00239617	0.0057	0.0011	0.0038	0	0.0188	0.0073	0.0112	0.0010	0.0055562	859	154602	rs141997108	0.0064	0.0064	0.0066	0.0062	0.0082	0.0063	0.0062	0.0064	0.0064	0.0008	0.0035	0.0113	0	0.0188	0.0082	0.0065	0.0072	0.0010	0.0056	0.0056	0.0055	0.0058	0.0069	0.0053	0.0052	0.0064	0.0062	0.0014	0	0.0025	0.0130	0	0.0212	0.0136	0.0069	0.0057	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.008691	0.30716	N	0.335569	0.99318	0.23759	N	-0.87	0.01450	N	4.34	0.02341	T	0.29	0.04161	N	0.183	0.19861	-0.9144	0.46298	T	0.002	0.00738	T	10	0.0037851036	0.00071	T	.	.	.	0.050	0.13987	.	.	0.043077524339	0.03247	0.27362071866456883	0.27275	0.217197326532	0.24235	0.308583498001	0.11693	T	0.012043	0.10654	T	-0.643239	0.00080	T	-0.692319	0.06256	T	0.00171204791103375	0.00017	T	0.80172	0.44782	T	0.023701595	0.01133	0.02507146	0.00541	0.023701595	0.01133	0.02507146	0.00540	-1.416	0.01601	T	.	.	0.061	0.01645	B	.;.;.	.;.;.	-0.134914	0.03438	0.631	0.431251597604218	0.03225	0.20705	0.21139	N	AEFI	0.238271	0.36042	N	-1.28797420044883	0.03819	0.1712974	-1.08981874389527	0.07900	0.3861526	0.00821560208285352	0.11633	0.638212	0.43195	0	0.547309	0.14657	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.4	-1.11	0.09336	0.120000	0.15476	-2.719000	0.03433	-1.002000	0.01800	0.929000	0.32243	0.000000	0.08366	0.889000	0.42754	0.0:0.6251:0.0:0.3749	10.520	0.44099	552	0.72024	Amino acid transporter, transmembrane domain;Amino acid transporter, transmembrane domain;Amino acid transporter, transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.000000	0.012228	0.008772	0.050000	0.000000	0.006098	0.003788	0.07143	1099.49	51	chr12	46779834	.	T	C	1099.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.684;DP=274;ExcessHet=0;FS=8.614;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=0.015;SOR=0.2	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	6	0	1	0
chr12	47670209	47670209	G	A	exonic	RPAP3	.	nonsynonymous SNV	RPAP3:NM_001146075:exon12:c.C1322T:p.T441I,RPAP3:NM_001146076:exon12:c.C947T:p.T316I,RPAP3:NM_024604:exon13:c.C1424T:p.T475I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00433569654235	.	.	8.241e-06	0	0	0	0	0	0	6.057e-05	1.29e-05	2	154602	rs763469006	4.105e-06	4.104e-06	2.723e-06	5.501e-06	4.638e-05	1.48e-06	9.7e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	1.799e-06	0	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.24372	T	0.227	0.25362	T	0.003	0.12996	B	0.002	0.11217	B	0.063420	0.02166	N	1.727610	1	0.08975	N	0.345	0.11182	N	2.88	0.14783	T	-0.45	0.14782	N	0.157	0.17966	-1.0133	0.25880	T	0.029	0.12234	T	10	0.0736008	0.11142	T	0.004336	0.10529	T	0.013	0.01715	0.294	0.25720	0.0551355673512	0.04727	0.30148804565417414	0.30061	0.0692781547984	0.07753	0.307685732841	0.11557	T	0.017039	0.13973	T	-0.517541	0.00455	T	-0.79966	0.01911	T	0.0286620857394042	0.01786	T	0.39556	0.09932	T	0.027879437	0.02044	0.030327728	0.01475	0.027879437	0.02044	0.030327728	0.01475	-3.903	0.22662	T	.	.	0.079	0.10449	B	.;.;.	.;.;.	1.141469	0.15289	11.74	0.95939731998602562	0.28239	0.05584	0.11486	N	AEFBI	0.039074	0.05625	N	-0.930649635125279	0.10130	0.4826563	-0.908468104572287	0.11894	0.6087357	0.00218967296552731	0.09217	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.41	1.41	0.21461	0.111000	0.15292	0.708000	0.20910	-0.109000	0.15193	0.000000	0.06391	0.000000	0.08366	0.610000	0.31640	0.2438:0.1401:0.6161:0.0	6.139	0.19468	895	0.25842	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1598.45	33	chr12	47670209	.	G	A	1598.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.632;DP=310;ExcessHet=0;FS=0.644;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-0.933;SOR=0.608	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1140	6	0	1	0
chr12	47791893	47791893	C	T	exonic	HDAC7	.	nonsynonymous SNV	HDAC7:NM_001098416:exon13:c.G1679A:p.R560Q,HDAC7:NM_001308090:exon13:c.G1739A:p.R580Q,HDAC7:NM_001368046:exon14:c.G1832A:p.R611Q,HDAC7:NM_015401:exon14:c.G1790A:p.R597Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0197470309949	.	0.000798722	0.0001	0.0001	0	0.0002	0	3.521e-05	0.0040	0.0005	0.0001294	20	154602	rs202023873	6.784e-05	6.909e-05	4.636e-05	8.954e-05	0.0005	5.68e-05	5.27e-05	0.0004	0.0003	2.993e-05	0	0	0.0001	0	0	3.959e-05	0.0001	0.0005	5.922e-05	5.906e-05	5.149e-05	6.731e-05	0.0015	3.081e-05	2.213e-05	0.0007	0.0005	0	0	0	0	0	0	0	2.945e-05	0	0.0015	0.022	0.49117	D	0.033	0.54934	D	0.3	0.70673	B	0.056	0.44962	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	0.675	0.16386	N	-0.39	0.69158	T	-1.41	0.34795	N	0.406	0.46086	-0.7424	0.58329	T	0.186	0.53601	T	10	0.06422126	0.08484	T	0.019747	0.42191	T	0.186	0.46104	.	.	0.596574268087	0.59337	0.5437174709230804	0.54297	0.305303193982	0.32830	0.642971277237	0.58988	T	0.225023	0.58963	T	-0.15505	0.27526	T	-0.136552	0.60415	T	0.0604657904603939	0.07241	T	0.862314	0.55722	D	0.5056985	0.67428	0.25135827	0.50745	0.5056985	0.67429	0.25135827	0.50745	-7.386	0.57968	T	.	.	0.220	0.45049	B	.;.;.;.;.	.;.;.;.;.	3.997356	0.58871	24.0	0.99937789378341801	0.99698	0.91155	0.52968	D	AEFBCI	0.728724	0.67666	D	0.143286397757777	0.48494	3.061037	0.279190995011872	0.54327	3.597917	0.999999999939179	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.18	5.18	0.71140	2.160000	0.41975	4.070000	0.41657	-0.182000	0.10109	0.994000	0.38300	0.999000	0.35428	0.709000	0.34421	0.0:1.0:0.0:0.0	17.686	0.88163	888	0.27761	.;.;.;Histone deacetylase domain;Histone deacetylase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	349.27	33	chr12	47791893	.	C	T	349.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.226;DP=209;ExcessHet=0;FS=5.391;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-1.386;SOR=0.894	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1311	5	0	1	1
chr12	48046999	48046999	C	A	exonic	SENP1	.	nonsynonymous SNV	SENP1:NM_001267594:exon16:c.G1755T:p.Q585H,SENP1:NM_001267595:exon16:c.G1755T:p.Q585H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0272821273373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.38185	T	0.038	0.51421	D	0.77	0.48784	P	0.427	0.45317	B	0.228784	0.15967	N	0.627300	0.884337	0.81001	D	0.79	0.19579	N	1.5	0.42502	T	-1.41	0.38540	N	0.205	0.24260	-1.0685	0.09746	T	0.078	0.31103	T	10	0.25147644	0.42488	T	0.027282	0.50107	D	0.047	0.12962	0.462	0.53079	0.58681671947	0.58357	0.26826707753557866	0.26739	.	.	0.41452562809	0.27083	T	0.143524	0.47967	T	-0.177311	0.24137	T	-0.492471	0.23132	T	0.692241907119751	0.40352	D	0.940406	0.77718	D	0.18298271	0.39543	0.1241434	0.29927	0.18298271	0.39543	0.1241434	0.29926	-8.657	0.65464	D	.	.	0.129	0.27583	B	.;.;.	.;.;.	3.311345	0.45497	22.1	0.98298551573955684	0.40020	0.79955	0.39725	D	AEFBI	0.098272	0.19805	N	0.00127744023002593	0.41913	2.515673	0.0399665663659804	0.41589	2.50117	0.0104394888677467	0.12024	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.95	3.0	0.33773	1.134000	0.31055	1.117000	0.24210	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1358:0.6555:0.132:0.0767	6.015	0.18825	543	0.72751	Ulp1 protease family, C-terminal catalytic domain|Ulp1 protease family, C-terminal catalytic domain;.;Ulp1 protease family, C-terminal catalytic domain|Ulp1 protease family, C-terminal catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr12	48046999	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1138	6	1	0	0
chr12	48088939	48088939	A	C	exonic	SENP1	.	nonsynonymous SNV	SENP1:NM_001267594:exon5:c.T242G:p.F81C,SENP1:NM_001267595:exon5:c.T242G:p.F81C	.	0	222	4	0	0	4	0.00892857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.0120156971753	.	.	0.0007	0.0004	0.0073	0	0	0.0003	0.0038	0.0003	0.0004269	66	154602	rs201367781	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0013	0.0012	6.118e-05	0.0016	0	0	0	0.0016	0.0001	0.0003	0.0004	0.0001	0.0001	0.0002	6.714e-05	0.0002	8.658e-05	7.251e-05	0.0001	7.895e-05	9.623e-05	0	0.0002	0	0	0	0.0034	0.0002	0	0	0.001	0.78490	D	0.056	0.46632	T	0.994	0.70673	D	0.753	0.62107	P	0.037918	0.24345	N	0.387379	0.966276	0.25901	N	0.895	0.22405	L	2.27	0.17431	T	-1.33	0.90100	N	0.463	0.49965	-1.0078	0.27603	T	0.075	0.30242	T	10	0.009805471	0.00220	T	0.012016	0.30212	T	0.144	0.38394	0.315	0.29096	0.332801854358	0.32887	0.41824730370719276	0.41740	.	.	0.67249161005	0.63193	T	0.119678	0.44138	T	-0.361943	0.04021	T	-0.322761	0.42272	T	0.0319114494810315	0.02292	T	0.824018	0.48536	T	0.115217485	0.27190	0.10600615	0.25493	0.115217485	0.27190	0.10600615	0.25493	-4.472	0.30626	T	.	.	0.131	0.52639	B	.;.;.;.	.;.;.;.	3.524586	0.49421	22.8	0.99320692671081223	0.59355	0.96288	0.68409	D	AEFBI	0.423586	0.48911	N	0.21655046500252	0.52002	3.377187	0.326526214759916	0.57104	3.875036	0.243567071622764	0.18599	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	3.494000	0.53036	8.088000	0.76508	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.8525:0.0:0.0:0.1475	10.325	0.42972	497	0.76227	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	786.64	29	chr12	48088939	.	A	C	786.64	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.574;DP=184;ExcessHet=0;FS=1.587;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.7;ReadPosRankSum=1.34;SOR=1.329	GT:AD:DP:GQ:PL	0/0:34,0:34:81:0,81,1215	6	0	1	0
chr12	48135015	48135015	A	G	exonic	PFKM	.	nonsynonymous SNV	PFKM:NM_001166688:exon8:c.A820G:p.I274V,PFKM:NM_001354747:exon8:c.A670G:p.I224V,PFKM:NM_001354748:exon8:c.A670G:p.I224V,PFKM:NM_000289:exon9:c.A820G:p.I274V,PFKM:NM_001166687:exon9:c.A820G:p.I274V,PFKM:NM_001354740:exon9:c.A964G:p.I322V,PFKM:NM_001354742:exon9:c.A820G:p.I274V,PFKM:NM_001354743:exon9:c.A820G:p.I274V,PFKM:NM_001354744:exon9:c.A820G:p.I274V,PFKM:NM_001354746:exon9:c.A820G:p.I274V,PFKM:NM_001363619:exon9:c.A820G:p.I274V,PFKM:NM_001354741:exon10:c.A844G:p.I282V,PFKM:NM_001354745:exon10:c.A733G:p.I245V,PFKM:NM_001166686:exon11:c.A1033G:p.I345V,PFKM:NM_001354737:exon11:c.A1033G:p.I345V,PFKM:NM_001354738:exon11:c.A1033G:p.I345V,PFKM:NM_001354739:exon11:c.A1033G:p.I345V,PFKM:NM_001354735:exon12:c.A1129G:p.I377V,PFKM:NM_001354736:exon12:c.A1129G:p.I377V	Glycogen storage disease VII, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	331196	Glycogen_storage_disease,_type_VII|not_provided	MONDO:MONDO:0009295,MedGen:C0017926,OMIM:232800,Orphanet:371|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.409	0.0329717188521	0.0003	0.000399361	0.0002	9.619e-05	0.0004	0	0	0.0003	0	0.0002	0.0002199	34	154602	rs142868881	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	2.989e-05	0.0003	0	7.557e-05	9.36e-05	0.0003	0.0002	0.0002	6.958e-05	0.0002	0.0002	0.0002	0.0003	0.0008	0.0002	0.0001	0.0005	0.0004	7.22e-05	0	0.0008	0	0	0	0	0.0003	0	0.0002	0.019	0.51248	D	0.01	0.65728	D	0.95	0.90584	P	0.895	0.88582	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.095	0.58118	M	-1.08	0.77078	T	-0.86	0.24676	N	0.358	0.41360	0.321	0.87892	D	0.615	0.86401	D	10	0.15041372	0.28449	T	0.032972	0.54648	D	0.409	0.72099	.	.	0.812897146669	0.81114	0.7649577740147355	0.76444	0.725319235954	0.62442	0.44877833128	0.31776	T	0.508795	0.82592	D	-0.0899275	0.38089	T	-0.0693916	0.65670	T	0.060000501536647	0.07169	T	0.844516	0.52185	T	0.49064687	0.66542	0.35216594	0.60799	0.5523233	0.70085	0.40415025	0.64850	-7.663	0.58750	D	0.3405184363256736	0.43827	0.102	0.33573	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.995209	0.58824	24.0	0.99918708999777328	0.98586	0.91669	0.54012	D	AEFBI	0.636009	0.61531	D	0.663563693087376	0.77250	6.63857	0.618334723197854	0.76273	6.460447	0.999999988136993	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.64	4.64	0.57399	6.312000	0.72804	9.421000	0.80755	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	13.998	0.63926	577	0.69927	Phosphofructokinase domain;Phosphofructokinase domain;.;Phosphofructokinase domain;Phosphofructokinase domain;Phosphofructokinase domain;Phosphofructokinase domain;Phosphofructokinase domain;Phosphofructokinase domain;Phosphofructokinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1534.53	36	chr12	48135015	.	A	G	1534.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.426;DP=307;ExcessHet=0;FS=6.598;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=0.825;SOR=1.344	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr12	48774004	48774004	T	C	exonic	ADCY6	.	nonsynonymous SNV	ADCY6:NM_015270:exon15:c.A2378G:p.N793S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0400806656721	7.7e-05	.	9.168e-06	0	0	0	0	1.648e-05	0	0	6.5e-06	1	154602	rs146695818	4.106e-06	4.104e-06	5.446e-06	2.751e-06	6.718e-05	1.48e-06	9.7e-07	1.782e-05	8.94e-06	2.987e-05	6.718e-05	0	0	0	0	0	1.656e-05	1.161e-05	1.315e-05	1.313e-05	2.57e-05	0	2.414e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	0	0.0005	0	0.079	0.33753	T	0.344	0.17804	T	0.038	0.21002	B	0.02	0.19048	B	0.002449	0.36537	N	0.256470	0.999964	0.81001	D	1.33	0.33268	L	-1.23	0.78860	T	-1.93	0.44852	N	0.485	0.51940	-0.6313	0.63515	T	0.297	0.66858	T	10	0.260285	0.43476	T	0.040081	0.59173	D	0.199	0.48268	.	.	0.680538779009	0.67782	0.5303726224343427	0.52961	0.331314275893	0.35210	0.631214499474	0.57317	T	0.455114	0.79439	T	-0.146092	0.28925	T	-0.27178	0.47639	T	0.316697031259537	0.25688	T	0.838916	0.51225	T	0.13638039	0.31617	0.09725459	0.23141	0.13638039	0.31617	0.09725459	0.23140	-5.111	0.38023	T	.	.	0.193	0.41249	B	.	.	3.347404	0.46151	22.3	0.9928284302533299	0.57973	0.95515	0.65028	D	AEFBI	0.520138	0.54512	D	-0.0989992752684939	0.37435	2.177963	0.0918661846999061	0.44137	2.701448	0.999999860191087	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	5.833000	0.69056	7.771000	0.68472	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.476	0.67128	495	0.76383	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	837.27	42	chr12	48774004	.	T	C	837.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.462;DP=264;ExcessHet=0;FS=0.822;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=0.11;SOR=0.575	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1097	5	0	1	1
chr12	48979627	48979627	T	A	exonic	WNT1	.	nonsynonymous SNV	WNT1:NM_005430:exon2:c.T264A:p.S88R	Osteogenesis imperfecta, type XV, Autosomal recessive	416	1091	15	0	0	15	0.00682749	.	.	.	215450	Osteogenesis_imperfecta|not_specified|not_provided|Osteogenesis_imperfecta_type_15|OSTEOPOROSIS,_EARLY-ONSET,_SUSCEPTIBILITY_TO	MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014086,MedGen:C3808844,OMIM:615220,Orphanet:666|MedGen:C3714945,OMIM:615221,Orphanet:85193	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.316	.	0.0038	0.00279553	0.0030	0.0013	0.0017	0	0.0018	0.0044	0	0.0013	0.0031177	482	154602	rs61758378	0.0047	0.0047	0.0048	0.0046	0.0170	0.0046	0.0045	0.0143	0.0133	0.0015	0.0021	0.0052	0	0.0022	0.0170	0.0054	0.0046	0.0012	0.0037	0.0037	0.0039	0.0034	0.0061	0.0034	0.0033	0.0056	0.0054	0.0014	0	0.0024	0.0043	0	0.0016	0.0068	0.0061	0.0052	0.0006	0.177	0.22224	T	0.368	0.30926	T	0.174	0.28827	B	0.134	0.33146	B	0.000065	0.52346	D	0.163297	0.998096	0.44502	D	0.49	0.13296	N	-0.98	0.75789	T	-0.32	0.12283	N	0.461	0.49783	-1.0170	0.24690	T	0.149	0.47540	T	10	0.008583903	0.00194	T	.	.	.	0.316	0.63799	0.553	0.66995	0.376570364461	0.37271	0.749888599216709	0.74935	.	.	0.636694550514	0.58095	T	0.480335	0.80937	T	-0.378033	0.03206	T	-0.313876	0.43241	T	0.00763754133154457	0.00089	T	0.658334	0.26756	T	0.17814307	0.38818	0.17639557	0.40171	0.20008159	0.41971	0.15608479	0.36558	-7.852	0.60057	D	0.07982010861788254	0.03967	0.546	0.66601	A	.;.	.;.	1.308768	0.17114	12.97	0.98124746947429931	0.38465	0.41229	0.26611	N	AEFDBHCIJ	0.377588	0.46130	N	-0.960380011496076	0.09461	0.44787	-0.880464813226318	0.12557	0.6466163	0.989113297446559	0.31727	0.59774	0.34471	0	0.606814	0.50340	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	4.84	0.813	0.17891	-1.064000	0.03572	0.219000	0.16052	-1.002000	0.01800	0.006000	0.17386	0.975000	0.29991	0.980000	0.58198	0.0:0.5711:0.0:0.4289	8.002	0.29462	680	0.59965	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.013092	0.005051	0.013587	0.038012	0.000000	0.000000	0.009146	0.000000	0.07143	1246.63	34	chr12	48979627	.	T	A	1246.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.552;DP=309;ExcessHet=0;FS=1.45;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=-0.202;SOR=0.521	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1179	6	0	1	0
chr12	49600271	49600271	A	C	exonic	FAM186B	.	nonsynonymous SNV	FAM186B:NM_032130:exon4:c.T1369G:p.F457V	.	419	1088	14	1	0	16	0.00729927	.	.	.	1604670	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.007	.	0.0012	0.00259585	0.0031	0.0004	0.0013	0	0.0005	0.0022	0.0055	0.0124	0.0027684	428	154602	rs148848955	0.0022	0.0022	0.0018	0.0025	0.0121	0.0021	0.0021	0.0115	0.0112	0.0005	0.0008	0.0005	0	0.0006	0.0056	0.0017	0.0024	0.0121	0.0013	0.0013	0.0012	0.0014	0.0110	0.0012	0.0011	0.0086	0.0078	0.0006	0	0.0012	0.0009	0.0002	0.0005	0.0068	0.0013	0.0019	0.0110	0.528	0.07163	T	0.615	0.08189	T	0.002	0.09854	B	0.004	0.10090	B	0.131584	0.02813	N	1.964920	1	0.08975	N	1.245	0.31408	L	2.85	0.10578	T	0.2	0.07590	N	0.063	0.03502	-0.9985	0.30339	T	0.015	0.05897	T	9	0.0038258433	0.00072	T	.	.	.	0.007	0.00512	.	.	0.0138822411134	0.00435	0.02506022555357011	0.02457	0.170960860832	0.19261	0.25391843915	0.04192	T	0.006459	0.05891	T	-0.713695	0.00030	T	-0.787562	0.02232	T	0.00239852839324041	0.00025	T	0.414759	0.10842	T	0.030541174	0.02737	0.030046115	0.01411	0.039639454	0.05511	0.040686384	0.04452	-2.123	0.03684	T	.	.	0.104	0.18746	B	.;.	.;.	-0.576906	0.01636	0.114	0.60102682728397716	0.06382	0.09813	0.15483	N	AEFDGBHCI	.	.	.	-1.31707158443633	0.03480	0.1555046	-1.42515154234731	0.03002	0.1392343	0.535150626161564	0.21207	0.554377	0.28877	0	0.588066	0.40923	0	0.608075	0.38828	0	0.567892	0.33627	0	.	.	5.37	-7.64	0.01146	-0.463000	0.06773	-0.879000	0.07072	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.3358:0.1945:0.3604:0.1093	2.685	0.04790	233	0.90919	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.009567	0.010101	0.004076	0.005848	0.000000	0.008621	0.015244	0.018939	0.07143	64.44	36	chr12	49600271	.	A	C	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.05;ReadPosRankSum=-0.566;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1175	6	0	1	0
chr12	49707142	49707142	C	A	exonic	FMNL3	.	nonsynonymous SNV	FMNL3:NM_001367835:exon1:c.G39T:p.E13D,FMNL3:NM_175736:exon1:c.G39T:p.E13D,FMNL3:NM_198900:exon1:c.G39T:p.E13D	.	417	1089	14	2	0	18	0.00819672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	.	0.0010	0.00299521	0.0043	0.0004	0.0021	0	0.0012	0.0029	0.0089	0.0174	0.0024126	373	154602	rs200294583	0.0021	0.0021	0.0018	0.0024	0.0120	0.0021	0.0020	0.0113	0.0111	0.0006	0.0007	0.0004	0	0.0006	0.0054	0.0016	0.0024	0.0120	0.0013	0.0013	0.0012	0.0014	0.0110	0.0011	0.0011	0.0086	0.0078	0.0006	0	0.0012	0.0009	0.0002	0.0005	0.0068	0.0013	0.0014	0.0110	0.512	0.07449	T	0.553	0.09725	T	0.0	0.02946	B	0.001	0.04355	B	0.056225	0.22577	N	0.445694	0.999974	0.18612	N	0.695	0.17993	N	-1.27	0.80387	T	-0.74	0.20791	N	0.129	0.25499	-0.9819	0.34561	T	0.181	0.52752	T	10	0.0050670207	0.00109	T	.	.	.	0.128	0.35103	0.106	0.01810	0.56265594507	0.55928	0.16400723662352634	0.16320	0.356036802147	0.37358	0.803074836731	0.82433	D	0.010304	0.09320	T	-0.475635	0.00785	T	-0.446598	0.28074	T	0.00898858313818023	0.00112	T	0.622938	0.24812	T	.	.	.	.	.	.	.	.	-4.118	0.25555	T	.	.	0.072	0.04436	B	.;.;.	.;.;.	1.685121	0.21476	15.21	0.91890903621303188	0.21209	0.72995	0.35713	D	AEFDBHCIJ	0.159408	0.28521	N	-0.86912710523105	0.11582	0.5597224	-0.705541733789153	0.16822	0.8917362	0.99999876687679	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	4.61	0.207	0.14491	0.593000	0.23700	0.117000	0.14863	-0.351000	0.05566	0.938000	0.32564	0.944000	0.28851	0.892000	0.42986	0.0:0.4614:0.286:0.2526	5.020	0.13698	379	0.83778	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010606	0.015152	0.004076	0.011765	0.000000	0.017241	0.015337	0.011364	0.1429	33.22	35	chr12	49707142	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,965	6	1	0	0
chr12	49742205	49742205	A	T	exonic	TMBIM6	.	nonsynonymous SNV	TMBIM6:NM_001098576:exon1:c.A69T:p.R23S	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00254712961696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	0	2.752e-06	0.0003	2.3e-07	9e-08	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19486	N	.	.	.	0.87	0.46412	T	-0.07	0.08033	N	0.191	0.20925	-1.0398	0.17374	T	0.042	0.18243	T	9	0.07402864	0.11264	T	0.002547	0.05121	T	0.011	0.01250	0.263	0.20788	0.167679373172	0.16340	0.25579440374354007	0.25493	0.568260903419	0.53050	0.440961688757	0.30708	T	.	.	.	-0.1709	0.25097	T	-0.483262	0.24099	T	0.220584862996978	0.21493	T	0.344066	0.07525	T	.	.	.	.	.	.	.	.	-3.655	0.18656	T	.	.	0.151	0.33412	B	.;.	.;.	0.444154	0.08144	4.874	0.96861924852030357	0.31384	0.04238	0.09761	N	ALL	0.198087	0.32497	N	-1.14654743093244	0.05836	0.2671362	-1.17603169829072	0.06312	0.3034396	0.999999999999872	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	5.04	-2.25	0.06498	0.337000	0.19582	0.298000	0.16948	0.665000	0.62972	0.002000	0.15269	0.450000	0.24948	0.086000	0.17578	0.3186:0.2096:0.3237:0.1482	1.148	0.01670	347	0.85595	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	883.44	33	chr12	49742205	.	A	T	883.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.201;DP=262;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=0.172;SOR=0.665	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1047	6	0	1	0
chr12	49973244	49973244	G	T	exonic	AQP6	.	nonsynonymous SNV	AQP6:NM_001652:exon1:c.G71T:p.S24I	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	.	0.0018	0.00299521	0.0009	0.0060	0	0	0	0	0	0.0028	0.000815	126	154602	rs35872290	0.0003	0.0003	0.0003	0.0004	0.0061	0.0003	0.0003	0.0054	0.0051	0.0061	0.0002	0	0	0	0.0002	2.698e-06	0.0006	0.0024	0.0019	0.0019	0.0020	0.0017	0.0061	0.0017	0.0016	0.0055	0.0053	0.0061	0	0.0008	0	0	0	0	1.47e-05	0.0009	0.0023	0.298	0.14595	T	0.414	0.18846	T	0.003	0.11197	B	0.005	0.11217	B	0.097486	0.20025	N	0.458260	0.858819	0.81001	D	0.29	0.10111	N	-3.04	0.92357	D	-1.24	0.31375	N	0.12	0.22614	-0.2357	0.76738	T	0.465	0.79345	T	10	0.007188618	0.00163	T	.	.	.	0.190	0.46781	.	.	0.778145068835	0.77610	0.2951957708161649	0.29432	0.279315344121	0.30423	0.408649206161	0.26270	T	0.248023	0.61776	T	-0.364561	0.03879	T	-0.294663	0.45286	T	0.00117007059324133	0.00011	T	0.542346	0.18695	T	0.1130343	0.26700	0.08278268	0.18919	0.1130343	0.26699	0.08278268	0.18919	-3.757	0.20164	T	.	.	0.181	0.39391	B	.;.;.	.;.;.	1.583432	0.20260	14.66	0.78884306770918788	0.12495	0.36279	0.25497	N	AEFDGBIJ	0.171608	0.29859	N	-0.943426713245492	0.09841	0.4675462	-0.90774066283406	0.11911	0.6097089	0.999965646318225	0.48965	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.21	3.3	0.36912	1.018000	0.29604	3.251000	0.37027	-0.194000	0.09177	0.003000	0.16062	1.000000	0.68203	0.633000	0.32236	0.0862:0.0:0.5406:0.3732	6.471	0.21209	258	0.89879	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	964.63	35	chr12	49973244	.	G	T	964.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.325;DP=248;ExcessHet=0;FS=0.891;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-1.33;SOR=0.829	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1086	6	0	1	0
chr12	50106895	50106895	T	C	exonic	GPD1	.	nonsynonymous SNV	GPD1:NM_001257199:exon5:c.T521C:p.V174A,GPD1:NM_005276:exon5:c.T590C:p.V197A	Hypertriglyceridemia, transient infantile, Autosomal recessive	0	1501	21	0	0	21	0.00694674	.	.	.	1172438	not_provided|GPD1-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.510	0.0850947028327	0.0006	0.000798722	0.0008	9.714e-05	0.0010	0	0	0.0010	0.0045	0.0006	0.000718	111	154602	rs2232207	0.0005	0.0005	0.0005	0.0006	0.0127	0.0005	0.0005	0.0103	0.0095	0.0003	0.0010	0.0022	0	0	0.0127	0.0004	0.0012	0.0008	0.0007	0.0006	0.0007	0.0006	0.0010	0.0005	0.0005	0.0006	0.0006	0.0003	0	0.0005	0.0020	0	0	0.0204	0.0008	0.0019	0.0010	0.088	0.38633	T	0.099	0.38891	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.5	0.72771	M	-0.29	0.67712	T	-3.92	0.73151	D	0.874	0.87157	-0.0958	0.80195	T	0.414	0.76129	T	10	0.18603465	0.34051	T	0.085095	0.74463	D	0.510	0.78971	.	.	0.908146814434	0.90723	0.8654752949982805	0.86512	0.649933622793	0.58288	0.67496317625	0.63546	T	0.822804	0.95686	D	0.0257582	0.55156	T	0.195401	0.82875	D	0.107409723103046	0.13153	T	0.979882	0.93166	D	0.7080722	0.78501	0.49520743	0.70806	0.77507323	0.82355	0.6152071	0.77604	-10.567	0.77231	D	0.2996157578346551	0.39689	0.678	0.74790	P	.;.	.;.	4.780414	0.77470	26.7	0.9984831607081569	0.92750	0.98319	0.81588	D	AEFDBI	0.969091	0.99152	D	0.772460585595586	0.84357	8.26541	0.742637384613061	0.85605	8.631014	0.999999999999683	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.39	5.39	0.77615	8.017000	0.88732	7.861000	0.71444	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.0:0.0:1.0	15.715	0.77425	225	0.91282	Glycerol-3-phosphate dehydrogenase, NAD-dependent, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016113	0.020202	0.025815	0.017647	0.050000	0.034483	0.003049	0.003788	0.07143	703.44	33	chr12	50106895	.	T	C	703.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.731;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=1;SOR=0.818	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1085	6	0	1	0
chr12	50350897	50350897	C	G	exonic	FAM186A	.	nonsynonymous SNV	FAM186A:NM_001145475:exon4:c.G5935C:p.A1979P	.	429	1080	12	1	0	14	0.00643974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	0.000399361	0.0049	0	0	0	0	0.0103	0.0319	0.0005	0.0007438	115	154602	rs183549613	0.0012	0.0011	0.0011	0.0012	0.0051	0.0011	0.0011	0.0036	0.0032	0.0001	0.0006	0.0321	0	6.091e-05	0.0051	0.0005	0.0028	0.0010	0.0011	0.0011	0.0011	0.0012	0.0008	0.0010	0.0010	0.0006	0.0006	0.0001	0	0.0005	0.0294	0	0	0	0.0008	0.0019	0.0006	0.157	0.23997	T	0.106	0.37872	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.89	0.10196	T	-1.0	0.26422	N	0.074	0.24010	-1.0114	0.26478	T	0.010	0.03627	T	9	0.003254652	0.00056	T	.	.	.	0.016	0.02506	.	.	0.0138822411134	0.00435	0.020118489836411953	0.01964	.	.	0.242013975978	0.02974	T	0.004474	0.03877	T	-0.632403	0.00092	T	-0.726731	0.04477	T	0.0323130377568132	0.02357	T	0.285271	0.05070	T	0.08004381	0.18318	0.07760044	0.17302	0.08004381	0.18318	0.07760044	0.17302	-1.609	0.02003	T	.	.	0.085	0.11366	B	.;.	.;.	-1.210715	0.00520	0.012	0.83558385996489282	0.14792	0.00089	0.00592	N	AEFDGBI	.	.	.	-2.28644752126192	0.00049	0.002095698	-2.37767160785682	0.00044	0.001942588	0.999999757822338	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.46	-8.93	0.00663	-2.372000	0.01152	-1.280000	0.05829	-1.899000	0.00526	0.000000	0.06391	0.000000	0.08366	0.545000	0.30055	0.3715:0.0781:0.0906:0.4598	3.402	0.06903	584	0.69381	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001433	0.000000	0.000000	0.009174	0.000000	0.000000	0.000000	0.000000	0.07143	799.53	86	chr12	50350897	.	C	G	799.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.136;DP=391;ExcessHet=0;FS=1.747;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=-0.109;SOR=0.827	GT:AD:DP:GQ:PL	0/0:98,0:98:99:0,120,1800	6	0	1	0
chr12	50363218	50363218	C	T	exonic	FAM186A	.	nonsynonymous SNV	FAM186A:NM_001145475:exon2:c.G339A:p.M113I	.	443	1077	2	0	0	2	0.000927644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00603590308905	.	0.000798722	0.0007	0	0	0	0	0	0	0.0018	0.0001164	18	154602	rs570233651	9.291e-05	8.961e-05	6.628e-05	0.0001	0.0015	7.963e-05	7.487e-05	0.0013	0.0012	0	2.801e-05	0	0	0	0	1.854e-06	0.0002	0.0015	5.911e-05	5.906e-05	5.14e-05	6.717e-05	0.0019	3.076e-05	2.209e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.57	0.02306	N	3.66	0.04228	T	0.71	0.02130	N	0.096	0.10911	-0.9206	0.45472	T	0.005	0.01651	T	9	0.005950004	0.00133	T	0.006036	0.15757	T	0.010	0.01040	0.309	0.28128	0.0138822411134	0.00435	0.010277295477898	0.00988	.	.	0.477039456367	0.35650	T	0.001082	0.00603	T	-0.712171	0.00031	T	-0.808991	0.01688	T	0.0248162288828283	0.01248	T	0.441756	0.12241	T	0.03740679	0.04789	0.049547475	0.07593	0.03740679	0.04789	0.049547475	0.07592	-2.638	0.06797	T	.	.	0.319	0.56984	B	.;.	.;.	-0.886289	0.00949	0.037	0.63502664646914864	0.07241	0.00323	0.01694	N	AEFDIJ	0.020581	0.00827	N	-1.38899944010862	0.02740	0.1214444	-1.3849276718096	0.03412	0.1590949	7.90868467097141E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.12	-1.21	0.09033	-1.009000	0.03770	-1.453000	0.05405	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.3432:0.4052:0.0:0.2515	3.602	0.07573	592	0.68746	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	275.83	34	chr12	50363218	.	C	T	275.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.896;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.9;ReadPosRankSum=-0.716;SOR=0.628	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1117	6	0	1	0
chr12	51303095	51303095	G	C	exonic	BIN2	.	nonsynonymous SNV	BIN2:NM_001290007:exon3:c.C131G:p.A44G,BIN2:NM_001290008:exon3:c.C209G:p.A70G,BIN2:NM_001364779:exon3:c.C209G:p.A70G,BIN2:NM_001364780:exon3:c.C209G:p.A70G,BIN2:NM_001364781:exon3:c.C209G:p.A70G,BIN2:NM_016293:exon3:c.C209G:p.A70G	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.676	0.0564088350817	0.0021	0.000798722	0.0020	0.0007	0.0009	0	0.0039	0.0028	0.0022	0.0007	0.001934	299	154602	rs147235873	0.0020	0.0020	0.0020	0.0019	0.0021	0.0019	0.0019	0.0020	0.0020	0.0001	0.0008	0.0067	0	0.0030	0.0021	0.0021	0.0022	0.0005	0.0019	0.0019	0.0019	0.0018	0.0028	0.0017	0.0016	0.0024	0.0023	0.0004	0.0044	0.0006	0.0075	0	0.0035	0	0.0028	0.0009	0	0.003	0.68238	D	0.012	0.63918	D	.	.	.	.	.	.	0.000042	0.53742	D	0.070422	0.999124	0.46125	D	.	.	.	0.05	0.61923	T	-2.87	0.60348	D	0.622	0.66016	1.047	0.98054	D	0.926	0.97568	D	10	0.0109981	0.00242	T	0.056409	0.66596	D	0.676	0.88061	.	.	0.817793535606	0.81607	.	.	.	.	0.664282977581	0.62021	T	0.150562	0.49010	T	-0.238371	0.15557	T	-0.116336	0.62101	T	0.0271328788256807	0.01563	T	0.824917	0.48720	T	.	.	.	.	.	.	.	.	-11.881	0.84266	D	.	.	0.354	0.56851	A	.;.	.;.	4.436741	0.68853	25.3	0.99779901784409464	0.86693	0.98526	0.83723	D	AEFBI	0.932385	0.92266	D	0.791322623078204	0.85560	8.612368	0.755129032023206	0.86539	8.921961	0.99999973703206	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.75	4.75	0.59954	8.599000	0.90640	11.550000	0.93175	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	15.522	0.75606	369	0.84396	BAR domain|BAR domain|BAR domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.005051	0.001359	0.000000	0.000000	0.000000	0.003067	0.000000	0.07143	1605.53	34	chr12	51303095	.	G	C	1605.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.668;DP=341;ExcessHet=0;FS=0.593;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=1.2;SOR=0.612	GT:AD:DP:GQ:PL	0/1:89,71:160:99:1616,0,2197	6	0	1	0
chr12	51820852	51820852	C	T	exonic	FIGNL2	.	nonsynonymous SNV	FIGNL2:NM_001013690:exon2:c.G1562A:p.G521D,FIGNL2:NM_001384995:exon2:c.G1562A:p.G521D,FIGNL2:NM_001384996:exon3:c.G1562A:p.G521D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	.	0	0	0.0002	6.5e-06	1	154602	rs769847773	9.227e-06	1.231e-05	3.033e-06	1.56e-05	0.0001	4.92e-06	3.89e-06	6.61e-05	4.947e-05	0	0	0	0	0	0	2.882e-06	0	0.0001	1.318e-05	1.314e-05	0	2.7e-05	0.0004	2.19e-06	8.2e-07	7.293e-05	3.03e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	0.062	0.23277	B	0.11	0.31460	B	.	.	.	.	.	.	.	0.205	0.09354	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23413134	0.40446	T	.	.	.	.	.	.	.	.	.	0.5856316386542251	0.58492	.	.	0.908296465874	0.97307	D	0.450397	0.79152	T	.	.	.	.	.	.	.	.	.	0.444256	0.12390	T	0.3203524	0.54670	0.5991631	0.76718	0.3203524	0.54670	0.5991631	0.76719	-5.549	0.42324	T	.	.	0.113	0.24192	B	.;.	.;.	3.103433	0.41837	21.4	0.91197183644844515	0.20452	0.24038	0.22268	N	AEFDBHCIJ	.	.	.	.	.	.	.	.	.	0.999999999999973	0.74766	0.11394	0.02926	0	0.152684	0.03557	0	0.04985	0.00251	1	0.062806	0.01542	0	0.694862	0.42733	4.29	4.29	0.50359	2.018000	0.40610	4.339000	0.43051	0.522000	0.23927	0.009000	0.18154	1.000000	0.68203	0.046000	0.14843	0.0:1.0:0.0:0.0	16.887	0.85946	489	0.76795	ATPase, AAA-type, core|AAA+ ATPase domain;ATPase, AAA-type, core|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	791.83	25	chr12	51820852	.	C	T	791.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.895;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-0.318;SOR=0.798	GT:AD:DP:GQ:PL	0/0:35,0:35:90:0,90,1350	6	0	1	0
chr12	52172285	52172285	C	T	exonic	KRT80	.	nonsynonymous SNV	KRT80:NM_001081492:exon7:c.G1091A:p.R364H,KRT80:NM_182507:exon7:c.G1091A:p.R364H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.545	0.0307282462135	.	.	1.648e-05	0	0	0	0	2.998e-05	0	0	1.94e-05	3	154602	rs773346097	3.284e-05	3.284e-05	3.676e-05	2.888e-05	0.0019	2.544e-05	2.249e-05	0.0011	0.0008	0	0	0	0	0	0.0019	3.238e-05	1.656e-05	0	2.626e-05	2.625e-05	2.569e-05	2.685e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0.0002	0.007	0.59928	D	0.08	0.45318	T	1.0	0.90584	D	0.992	0.86255	D	0.002489	0.36462	N	0.000000	0.983508	0.40023	D	1.625	0.41611	L	-2.57	0.89692	D	-4.28	0.77225	D	0.501	0.53357	0.791	0.94294	D	0.818	0.93858	D	10	0.6885842	0.71714	D	0.030728	0.52975	D	0.545	0.81077	.	.	0.78358005052	0.78158	0.3277651762101634	0.32689	0.5857386282	0.54202	0.392384529114	0.24005	T	0.470701	0.80371	T	0.10743	0.65084	D	-0.0679751	0.65770	T	0.963035464286804	0.66540	D	0.608739	0.23025	T	0.16074997	0.36037	0.16466592	0.38134	0.16074997	0.36036	0.16466592	0.38133	-5.067	0.37558	T	.	.	0.090	0.17016	B	.;.	.;.	4.455976	0.69304	25.4	0.9986948905830958	0.94726	0.77230	0.37949	D	ALL	0.469557	0.51589	N	0.658497382381632	0.76919	6.57615	0.555695034095159	0.71794	5.70955	0.999999999999994	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.440796	0.06475	0	0.691587	0.68394	0	.	.	4.58	4.58	0.56077	2.699000	0.46744	.	.	0.599000	0.40250	0.272000	0.25065	0.992000	0.31684	0.383000	0.26402	0.0:0.8667:0.0:0.1333	11.179	0.47843	345	0.85689	.;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	3464.44	57	chr12	52172285	.	C	T	3464.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.683;DP=432;ExcessHet=0;FS=1.072;MLEAC=1;MLEAF=0.071;MQ=59.96;MQRankSum=0.922;QD=16.58;ReadPosRankSum=0.769;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1296:.	6	0	1	0
chr12	52317765	52317765	G	T	exonic	KRT83	.	stopgain	KRT83:NM_002282:exon4:c.C666A:p.C222X	.	0	524	704	288	6	1286	0.549828	.	.	.	325664	Monilethrix|KRT83-related_disorder|not_provided	Human_Phenotype_Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:PS158000,Orphanet:573|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0052	0.0013	0.0010	0	0.0039	0.0084	0.0044	0.0008	0.0053104	821	154602	rs2857667	0.0089	0.0089	0.0091	0.0087	0.0107	0.0088	0.0087	0.0105	0.0104	0.0016	0.0016	0.0036	0	0.0051	0.0014	0.0107	0.0092	0.0010	0.0067	0.0067	0.0072	0.0061	0.0115	0.0063	0.0062	0.0108	0.0106	0.0015	0.0362	0.0038	0.0038	0	0.0048	0	0.0115	0.0038	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.000269	0.46590	U	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.129	0.12341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17806	0.71864	D	0.495319	0.94515	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.015050	0.96036	35	0.98622137857065073	0.43785	0.11631	0.16760	N	AEFDGBI	0.108877	0.21645	N	-0.071148009845358	0.38662	2.267829	-0.363780087207315	0.26086	1.43863	0.96087995647468	0.28517	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.64	-2.6	0.05830	-0.996000	0.03819	.	.	-1.331000	0.01216	0.000000	0.06391	0.000000	0.08366	0.769000	0.36481	0.6883:0.0:0.3117:0.0	11.530	0.49856	721	0.55360	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	4463.95	59	chr12	52317765	.	G	T	4463.95	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.149;DP=301;ExcessHet=0;FS=0.681;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=23.37;ReadPosRankSum=0.941;SOR=0.727	GT:AD:DP:GQ:PL	0/1:0,45:101:99:3008,1612,1477	5	0	1	1
chr12	52385056	52385056	G	C	exonic	KRT84	.	nonsynonymous SNV	KRT84:NM_033045:exon1:c.C530G:p.A177G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.891	0.176906474143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.789e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000138	0.49741	D	0.000000	0.999991	0.58761	D	4.095	0.97289	H	-3.65	0.95179	D	-3.64	0.69835	D	0.853	0.84922	1.078	0.98810	D	0.938	0.97975	D	10	0.9246705	0.91817	D	0.176906	0.85252	D	0.891	0.96873	0.771	0.89767	0.975966307224	0.97570	0.5387444611866561	0.53799	0.219873754163	0.24531	0.673947811127	0.63400	T	0.575528	0.86016	D	0.322749	0.84668	D	0.22583	0.84466	D	0.999502182006836	0.97675	D	0.952205	0.81731	D	0.8957342	0.91004	0.85471135	0.91821	0.8957342	0.91006	0.85471135	0.91822	-10.131	0.74692	D	.	.	0.640	0.70527	P	.	.	5.271504	0.88515	29.6	0.99726064184576435	0.82406	0.98882	0.88116	D	AEFGBI	0.935306	0.92997	D	0.970799222495421	0.94775	13.02873	0.876790821287214	0.94479	12.79379	0.999999999999533	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.03	5.03	0.67015	8.140000	0.89528	.	.	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.936	0.92560	633	0.64743	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	142.62	29	chr12	52385056	.	G	C	142.62	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.676;DP=453;ExcessHet=1.1394;FS=420.593;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.57;ReadPosRankSum=1.57;SOR=8.439	GT:AD:DP:GQ:PL	0/1:70,25:95:76:76,0,1769	3	0	3	1
chr12	52569905	52569905	C	T	exonic	KRT74	.	nonsynonymous SNV	KRT74:NM_175053:exon6:c.G1088A:p.R363Q	Woolly hair, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2861197	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.411	0.0484772773817	7.7e-05	.	1.647e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs376472336	1.231e-05	1.231e-05	1.497e-05	9.625e-06	0.0001	7.7e-06	6.35e-06	3.982e-05	2.373e-05	0.0001	0	0	0.0001	0	0	7.194e-06	1.656e-05	1.159e-05	6.566e-05	6.562e-05	2.569e-05	0.0001	0.0002	3.514e-05	2.614e-05	6.268e-05	4.29e-05	0.0001	0	0.0001	0	0	0	0	1.47e-05	0	0.0002	0.001	0.78490	D	0.062	0.45318	T	0.998	0.73220	D	0.951	0.68939	D	.	.	.	.	0.550475	0.31339	N	2.655	0.77738	M	-0.88	0.74689	T	-3.62	0.69593	D	0.492	0.52563	0.177	0.85520	D	0.571	0.84458	D	9	0.4865961	0.60745	T	0.048477	0.63390	D	0.411	0.72252	.	.	0.479363622381	0.47567	0.16374624797837772	0.16294	0.112766155878	0.12728	0.243165761232	0.03082	T	0.665229	0.90000	D	-0.156411	0.27314	T	-0.225782	0.52180	T	0.88997358083725	0.54074	D	0.89841	0.64469	D	0.47257054	0.65448	0.47428733	0.69531	0.47257054	0.65449	0.47428733	0.69532	-9.151	0.68664	D	0.25129809117681795	0.34007	0.112	0.21803	B	.;.	.;.	4.115638	0.61477	24.3	0.99946469074006816	0.99901	0.54182	0.29553	D	AEFDBI	0.550445	0.56292	D	0.336665021487779	0.58039	3.974005	0.169322355334057	0.48174	3.037014	0.0903460379052258	0.16107	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.01	3.12	0.34986	2.099000	0.41392	.	.	0.599000	0.40250	0.037000	0.20830	0.000000	0.08366	0.973000	0.55318	0.0:0.7562:0.1569:0.0869	8.253	0.30900	851	0.35303	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	511.44	34	chr12	52569905	.	C	T	511.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.559;DP=256;ExcessHet=0;FS=2.068;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.31;ReadPosRankSum=0.147;SOR=0.595	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1437	6	0	1	0
chr12	52648274	52648274	G	A	exonic	KRT2	.	nonsynonymous SNV	KRT2:NM_000423:exon5:c.C1021T:p.R341C	Ichthyosis bullosa of Siemens, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.771	0.0770185600361	.	.	2.471e-05	0	8.637e-05	0	0	0	0	0.0001	1.94e-05	3	154602	rs778596676	1.642e-05	1.642e-05	6.806e-06	2.613e-05	0.0002	1.111e-05	9.33e-06	9.791e-05	7.838e-05	0	2.236e-05	0	5.038e-05	0	0	5.396e-06	1.656e-05	0.0002	3.284e-05	3.281e-05	1.285e-05	5.373e-05	0.0010	1.26e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.012	0.54683	D	0.013	0.63109	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999982	0.54805	D	2.94	0.84723	M	-2.71	0.90566	D	-7.29	0.94457	D	0.799	0.79503	0.827	0.94745	D	0.836	0.94514	D	9	0.9576546	0.95141	D	0.077019	0.72671	D	0.771	0.92294	0.78	0.90465	0.957274204464	0.95682	0.3638657640322779	0.36300	0.546491555766	0.51644	0.490176051855	0.37463	T	0.841	0.96305	D	0.194468	0.73376	D	0.244218	0.85348	D	0.970104575157166	0.68829	D	0.917608	0.70392	D	0.39279476	0.60230	0.43730193	0.67154	0.39279476	0.60230	0.43730193	0.67154	-8.594	0.65049	D	0.5422075405560501	0.61172	0.750	0.75042	P	.	.	5.047865	0.84062	28.2	0.9993487325101722	0.99579	0.95996	0.67064	D	AEFBI	0.695135	0.65390	D	0.57447186466012	0.71583	5.673178	0.483559484622835	0.66900	5.012754	0.969817472845363	0.29158	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.52	4.52	0.54797	2.803000	0.47620	.	.	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.212000	0.22240	0.0:0.0:0.8368:0.1632	13.787	0.62601	793	0.45818	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1403.44	34	chr12	52648274	.	G	A	1403.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.33;DP=317;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=-0.321;SOR=0.654	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1324	6	0	1	0
chr12	52692555	52692555	-	CAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGGACCCAGGAGGCGG	exonic	KRT77	.	stopgain	KRT77:NM_175078:exon7:c.1292_1293insCCGCCTCCTGGGTCCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTG:p.E432Rfs*14	.	27	1483	5	0	7	12	0.00168294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0004	0.0003	0	0.0018	0.0022	0	0.0005	3.84e-05	1	26028	rs778135740	1.444e-05	6.721e-05	1.506e-05	1.383e-05	9.955e-06	9.28e-06	7.88e-06	5.34e-06	3.9e-06	0	0	7.684e-05	0	0.0001	0	9.955e-06	1.664e-05	0	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	8.77e-05	6.958e-05	5.127e-05	9.664e-05	0	0.0002	0	0	0.0002	0	0.0001	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	307.4	35	chr12	52692555	.	C	CCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGGACCCAGGAGGCGG	307.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.38;DP=297;ExcessHet=0;FS=1.075;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.01;ReadPosRankSum=-2.553;SOR=0.869	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1390	6	0	1	0
chr12	52771086	52771086	C	T	exonic	KRT76	.	nonsynonymous SNV	KRT76:NM_015848:exon7:c.G1397A:p.R466H	.	1	1516	5	0	0	5	0.00164636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.0261409563864	0.0002	0.000998403	0.0005	0.0009	8.637e-05	0.0001	0	2.997e-05	0.0011	0.0031	0.0004851	75	154602	rs143394911	0.0003	0.0003	0.0002	0.0003	0.0029	0.0002	0.0002	0.0026	0.0024	0.0011	0.0002	0	5.038e-05	5.616e-05	0.0005	5.126e-05	0.0003	0.0029	0.0004	0.0004	0.0003	0.0004	0.0035	0.0003	0.0003	0.0022	0.0018	0.0007	0	6.536e-05	0	0	0.0004	0	4.411e-05	0.0005	0.0035	0.016	0.51853	D	0.064	0.44905	T	0.969	0.56768	D	0.745	0.55870	P	0.034564	0.24753	N	0.188156	0.999981	0.18198	N	2.645	0.77386	M	-2.57	0.89692	D	-4.24	0.76015	D	0.25	0.28264	-0.1048	0.79989	T	0.619	0.86547	D	10	0.008607924	0.00195	T	0.026141	0.49069	D	0.325	0.64725	.	.	0.819514186291	0.81781	0.3212932169144769	0.32042	0.126043349698	0.14207	0.224110066891	0.01561	T	0.360505	0.72674	T	-0.354562	0.04447	T	-0.285445	0.46243	T	0.0827314012698687	0.10333	T	0.618838	0.23746	T	0.1618024	0.36213	0.15831175	0.36976	0.1618024	0.36213	0.15831175	0.36976	-8.03	0.61275	D	.	.	0.105	0.19316	B	.	.	2.308402	0.29544	18.16	0.99868505284495779	0.94637	0.08555	0.14468	N	AEFBI	0.095445	0.19284	N	-0.227016644388869	0.32029	1.802017	-0.390925844668155	0.25266	1.388457	1.34292407679999E-5	0.02871	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.13	-0.635	0.10934	0.231000	0.17651	.	.	-0.175000	0.10903	0.000000	0.06391	0.000000	0.08366	0.996000	0.76049	0.0:0.4381:0.0:0.5619	10.297	0.42813	578	0.69858	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.07143	2373.44	34	chr12	52771086	.	C	T	2373.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.24;DP=440;ExcessHet=0;FS=2.862;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=0.83;SOR=0.887	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr12	52951595	52951595	G	A	exonic	KRT18	.	nonsynonymous SNV	KRT18:NM_000224:exon4:c.G772A:p.E258K,KRT18:NM_199187:exon5:c.G772A:p.E258K	Cirrhosis, cryptogenic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3272969	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.211	0.0406890940888	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1347876514	9.577e-06	9.577e-06	4.084e-06	1.513e-05	2.987e-05	5.56e-06	4.35e-06	4.55e-06	3.32e-06	2.987e-05	2.236e-05	0	0	0	0	8.993e-06	3.312e-05	0	6.577e-06	6.569e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	0.94	0.03030	T	0.007	0.19556	B	0.013	0.16460	B	0.193793	0.16776	N	0.513353	0.874503	0.28153	N	0.38	0.12130	N	-2.49	0.89145	D	0.69	0.02195	N	0.193	0.23506	-0.5999	0.64822	T	0.439	0.77765	T	10	0.09586775	0.17154	T	0.040689	0.59514	D	0.211	0.50185	.	.	0.564807590308	0.56144	0.33711777426591916	0.33624	0.609901705907	0.55697	0.367310762405	0.20445	T	0.321506	0.69260	T	-0.0969311	0.36933	T	-0.294146	0.45341	T	0.285273253917694	0.24392	T	0.725627	0.33984	T	0.15977314	0.35872	0.13554487	0.32450	0.15977314	0.35872	0.13554487	0.32449	-8.963	0.67458	D	0.10965201983919194	0.09178	0.206	0.43227	B	.;.;.	.;.;.	2.327061	0.29806	18.24	0.90549147926805984	0.19804	0.30971	0.24219	N	AEFBHCI	0.812927	0.73553	D	-0.592304290303385	0.19177	1.00163	-0.478043993983517	0.22760	1.237794	0.999999999490694	0.74766	0.722319	0.85440	0	0.588764	0.42986	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	3.59	3.59	0.40253	0.872000	0.27688	.	.	0.596000	0.33519	0.024000	0.20007	0.999000	0.35428	0.971000	0.54645	0.0:0.0:1.0:0.0	13.487	0.60826	764	0.49969	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	42.97	24	chr12	52951595	.	G	A	42.97	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.936;DP=201;ExcessHet=0;FS=47.695;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=1.16;ReadPosRankSum=0.68;SOR=4.395	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:38,0:38:0:.:.:0,0,595:.	3	0	1	3
chr12	53059230	53059230	G	A	exonic	TNS2	.	nonsynonymous SNV	TNS2:NM_015319:exon18:c.G1619A:p.R540Q,TNS2:NM_170754:exon18:c.G1589A:p.R530Q,TNS2:NM_198316:exon18:c.G1217A:p.R406Q	.	427	1061	33	1	0	35	0.0162262	.	.	.	2100270	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.320	0.772024504778	0.0043	0.00199681	0.0052	0.0010	0.0027	0	0.0017	0.0070	0.0034	0.0067	0.0001153	3	26028	rs186505042	0.0045	0.0045	0.0044	0.0046	0.0142	0.0044	0.0044	0.0116	0.0107	0.0017	0.0025	0.0250	5.123e-05	0.0011	0.0142	0.0043	0.0064	0.0054	0.0039	0.0039	0.0043	0.0035	0.0050	0.0036	0.0035	0.0045	0.0044	0.0008	0.0044	0.0049	0.0257	0.0004	0.0007	0.0238	0.0050	0.0077	0.0043	0.05	0.40068	D	0.444	0.15157	T	0.414	0.35185	B	0.05	0.25278	B	0.009088	0.30522	N	0.290697	0.563685	0.32234	D	.	.	.	-3.36	0.94067	D	-0.74	0.20791	N	0.251	0.32812	-0.4187	0.71434	T	0.387	0.74187	T	10	0.01160565	0.00253	T	0.772025	0.98198	D	0.320	0.64215	.	.	0.136095386433	0.13204	0.310462656355981	0.30959	0.897905251988	0.70530	0.669389784336	0.62751	T	0.166645	0.51296	T	-0.233784	0.16152	T	-0.106949	0.62854	T	0.0177116158695106	0.00502	T	0.927407	0.73262	D	0.12236214	0.28756	0.088153794	0.20536	0.12236214	0.28756	0.088153794	0.20536	-4.152	0.31627	T	.	.	0.140	0.32299	B	.;.;.;.;.;.	.;.;.;.;.;.	4.123727	0.61658	24.4	0.99869567671012383	0.94726	0.26646	0.23052	N	AEFDBCIJ	0.230530	0.35389	N	-0.435702239582266	0.24227	1.306702	-0.29249201110978	0.28344	1.579759	0.999889827802085	0.44867	0.460665	0.09802	0	0.514364	0.08380	0	0.576033	0.28219	0	0.636168	0.56350	0	.	.	4.63	4.63	0.57175	0.972000	0.29007	9.666000	0.81207	0.588000	0.31329	0.003000	0.16062	1.000000	0.68203	0.815000	0.38403	0.1017:0.0:0.8983:0.0	9.088	0.35757	761	0.50382	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021761	0.026316	0.020436	0.032164	0.000000	0.025862	0.012270	0.018939	0.08333	156.27	24	chr12	53059230	.	G	A	156.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.734;DP=189;ExcessHet=0;FS=1.808;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.44;ReadPosRankSum=-0.254;SOR=1.104	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1122	5	0	1	1
chr12	53060967	53060967	C	G	exonic	TNS2	.	nonsynonymous SNV	TNS2:NM_015319:exon20:c.C3091G:p.R1031G,TNS2:NM_170754:exon20:c.C3061G:p.R1021G,TNS2:NM_198316:exon20:c.C2689G:p.R897G	.	405	1116	1	0	0	1	0.000447828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.0440790079233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.871e-07	6.84e-07	0	1.382e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.439	0.14771	T	0.144	0.32550	B	0.063	0.27082	B	0.416931	0.12921	N	0.709097	0.738366	0.29760	N	.	.	.	-3.38	0.94210	D	-0.46	0.23372	N	0.341	0.46086	-0.0908	0.80310	T	0.592	0.85412	D	10	0.17062095	0.31735	T	0.044079	0.61307	D	0.298	0.61843	0.278	0.23164	0.352476196916	0.34857	0.4555659946117247	0.45474	0.567544485332	0.53011	0.588386416435	0.51267	T	0.178971	0.52981	T	0.124424	0.66814	D	-0.0590506	0.66398	T	0.631438910961151	0.37678	D	0.890411	0.62412	D	0.232414	0.46029	0.14774837	0.34952	0.232414	0.46029	0.14774837	0.34951	-3.15	0.12615	T	.	.	0.094	0.23570	B	.;.;.;.;.;.	.;.;.;.;.;.	3.109046	0.41930	21.4	0.96147020302193054	0.28853	0.22181	0.21659	N	AEFDGBCI	0.259896	0.37815	N	-0.384876193267311	0.26008	1.416118	-0.259950869128447	0.29431	1.648752	0.999999999999946	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.696353	0.63694	0	0.735409	0.98432	0	.	.	4.55	4.55	0.55429	2.173000	0.42099	4.824000	0.45142	0.599000	0.40250	0.983000	0.35670	1.000000	0.68203	0.950000	0.49671	0.0:1.0:0.0:0.0	13.016	0.58166	760	0.50470	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	637.83	38	chr12	53060967	.	C	G	637.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.97;DP=236;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=3.22;SOR=0.591	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1245	6	0	1	0
chr12	54002666	54002666	C	T	exonic	HOXC9	.	stopgain	HOXC9:NM_006897:exon2:c.C775T:p.Q259X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338293622	4.79e-06	4.788e-06	2.723e-06	6.879e-06	0.0007	1.99e-06	1.28e-06	0.0002	0.0001	0	0	0	0	0	0.0007	0	1.657e-05	2.319e-05	6.572e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.000138	0.49741	D	0.080637	0.95715	0.38010	D	.	.	.	.	.	.	.	.	.	0.619	0.64478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.514725	0.94726	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	9.079834	0.98435	39	0.99549604912012335	0.71023	0.88035	0.47790	D	AEFDGBI	0.072388	0.14445	N	0.890367094651339	0.91280	10.80417	0.710252169007441	0.83157	7.948622	0.999999993610533	0.74766	0.609539	0.35627	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.13	4.13	0.47661	2.686000	0.46634	7.598000	0.61467	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	14.283	0.65775	204	0.92044	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.1667	508.92	27	chr12	54002666	.	C	T	508.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.641;DP=161;ExcessHet=0.4139;FS=4.267;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=0.612;SOR=1.493	GT:AD:DP:GQ:PL	0/0:26,0:26:75:0,75,1125	4	0	2	1
chr12	54363500	54363500	G	A	exonic	GPR84	.	nonsynonymous SNV	GPR84:NM_020370:exon2:c.C352T:p.R118C	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.828	0.244531666409	7.7e-05	0.000599042	9.095e-05	0.0003	0	0.0005	0	6.014e-05	0	0	9.7e-05	15	154602	rs145386200	5.678e-05	5.678e-05	5.31e-05	6.051e-05	0.0004	4.677e-05	4.302e-05	0.0003	0.0002	5.975e-05	2.236e-05	0	0.0004	5.623e-05	0.0003	4.587e-05	9.935e-05	1.159e-05	7.878e-05	7.873e-05	5.138e-05	0.0001	0.0010	4.493e-05	3.509e-05	0.0004	0.0002	4.812e-05	0	6.537e-05	0	0.0010	0	0	2.94e-05	0.0009	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.968	0.71741	D	0.000009	0.62929	D	0.000000	1	0.81001	D	3.525	0.93020	H	-4.28	0.97126	D	-7.69	0.95603	D	0.979	0.98929	1.073	0.98673	D	0.951	0.98399	D	10	0.8261237	0.81792	D	0.244532	0.88848	D	0.828	0.94541	.	.	0.989644784695	0.98952	0.9093460237639029	0.90908	0.775613616254	0.65014	0.551679432392	0.46095	T	0.241829	0.61044	T	0.274482	0.80837	D	0.512875	0.94919	D	0.596213567396819	0.36251	D	0.930207	0.74183	D	0.7730415	0.82230	0.66370493	0.80287	0.7730415	0.82232	0.66370493	0.80287	-9.048	0.68006	D	.	.	0.599	0.68830	P	.;.	.;.	5.146181	0.86174	28.8	0.99932883204816314	0.99488	0.95470	0.64849	D	AEFBHI	0.615949	0.60269	D	0.764955203133241	0.83874	8.133396	0.684269558598202	0.81182	7.46783	0.999999102549499	0.74766	0.497415	0.19182	0	0.541556	0.11502	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	5.21	4.27	0.50009	3.033000	0.49433	3.633000	0.39322	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.845:0.155	13.623	0.61615	686	0.59327	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	956.53	55	chr12	54363500	.	G	A	956.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.25;DP=258;ExcessHet=0;FS=1.046;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.39;ReadPosRankSum=0.394;SOR=0.869	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,108,1620	6	0	1	0
chr12	54516990	54516990	A	-	exonic	NCKAP1L	.	frameshift deletion	NCKAP1L:NM_001184976:exon11:c.943delA:p.K315Rfs*60,NCKAP1L:NM_005337:exon11:c.1093delA:p.K365Rfs*60	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	52.4	34	chr12	54516989	.	TA	T	52.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.383;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=1.38;SOR=0.105	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	6	0	1	0
chr12	54963039	54963039	T	C	exonic	TESPA1	.	nonsynonymous SNV	TESPA1:NM_001351150:exon6:c.A232G:p.I78V,TESPA1:NM_001351148:exon7:c.A445G:p.I149V,TESPA1:NM_001351151:exon7:c.A100G:p.I34V,TESPA1:NM_001351152:exon7:c.A100G:p.I34V,TESPA1:NM_001351153:exon7:c.A100G:p.I34V,TESPA1:NM_001351154:exon7:c.A100G:p.I34V,TESPA1:NM_001351155:exon7:c.A100G:p.I34V,TESPA1:NM_014796:exon7:c.A445G:p.I149V,TESPA1:NM_001261844:exon8:c.A445G:p.I149V,TESPA1:NM_001098815:exon9:c.A859G:p.I287V,TESPA1:NM_001136030:exon9:c.A859G:p.I287V,TESPA1:NM_001351149:exon10:c.A859G:p.I287V	.	432	1057	30	3	0	36	0.0167442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00635071941167	0.0051	0.00259585	0.0049	0.0020	0.0065	0	0.0003	0.0068	0.0089	0.0022	0.0047671	737	154602	rs151024475	0.0050	0.0050	0.0049	0.0051	0.0229	0.0049	0.0048	0.0197	0.0185	0.0030	0.0059	0.0227	0	0.0002	0.0229	0.0050	0.0073	0.0021	0.0043	0.0043	0.0045	0.0040	0.0060	0.0040	0.0039	0.0050	0.0048	0.0018	0	0.0060	0.0256	0.0002	0.0002	0.0204	0.0054	0.0085	0.0010	0.049	0.39820	D	0.3	0.24477	T	0.537	0.37852	P	0.203	0.37000	B	0.000022	0.55875	D	0.069110	0.957218	0.38013	D	-0.805	0.01590	N	0.1	0.61326	T	-0.62	0.18248	N	0.139	0.23380	-0.9849	0.33856	T	0.078	0.31224	T	10	0.006645471	0.00151	T	0.006351	0.16696	T	0.099	0.28413	.	.	0.278143212241	0.27437	0.13621010059658048	0.13545	0.140071736936	0.15782	0.410828411579	0.26571	T	0.001749	0.01176	T	-0.556352	0.00267	T	-0.567933	0.15639	T	0.0178518659397938	0.00513	T	0.719228	0.39120	T	0.036203723	0.04409	0.05571088	0.09822	0.036203723	0.04408	0.05571088	0.09821	-3.494	0.18641	T	.	.	0.087	0.24363	B	.;.;.;.;.	.;.;.;.;.	1.175982	0.15662	12.01	0.99188203244763684	0.54906	0.46176	0.27702	N	AEFBI	0.142651	0.26514	N	0.0225348912315619	0.42879	2.592122	0.144746699284098	0.46863	2.925541	0.908225549450194	0.26279	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.49	4.2	0.48814	1.110000	0.30761	1.773000	0.28651	0.665000	0.62972	0.947000	0.32937	1.000000	0.68203	0.998000	0.85391	0.0:0.1449:0.0:0.8551	5.697	0.17132	783	0.47268	.;.;ITPR-interacting domain;ITPR-interacting domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.028197	0.030303	0.055707	0.011696	0.050000	0.034483	0.009146	0.003788	0.07143	327.53	34	chr12	54963039	.	T	C	327.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.619;DP=212;ExcessHet=0;FS=3.108;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=0.555;SOR=0.497	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1037	6	0	1	0
chr12	55469328	55469328	C	A	exonic	OR6C70	.	stopgain	OR6C70:NM_001005499:exon1:c.G811T:p.G271X	.	430	1079	13	0	0	13	0.00598802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.00119808	0.0031	0.0002	0.0022	0	0.0011	0.0020	0.0066	0.0120	0.0027361	423	154602	rs111636907	0.0023	0.0023	0.0021	0.0026	0.0122	0.0023	0.0022	0.0116	0.0113	0.0003	0.0013	0.0069	0	0.0005	0.0033	0.0017	0.0026	0.0122	0.0014	0.0014	0.0012	0.0016	0.0124	0.0013	0.0012	0.0099	0.0090	0.0003	0	0.0006	0.0058	0	0.0005	0.0068	0.0016	0.0005	0.0124	.	.	.	.	.	.	.	.	.	.	.	.	0.003541	0.34793	N	0.127801	0.997525	0.43960	D	.	.	.	.	.	.	.	.	.	0.013	0.00142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0231988	0.54813	T	0.270935	0.86623	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	6.281190	0.94937	34	0.9754281329315353	0.34523	0.04622	0.10284	N	AEFI	0.047004	0.07869	N	0.425766935029231	0.62843	4.50711	0.110998621627395	0.45109	2.780079	0.00908857150433996	0.11793	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.12	3.2	0.35826	-0.528000	0.06280	.	.	0.565000	0.28586	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1644:0.5868:0.1595:0.0893	4.200	0.09919	771	0.49057	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.002924	0.050000	0.000000	0.015244	0.015152	0.07143	1158.63	35	chr12	55469328	.	C	A	1158.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.37;DP=285;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=-1.124;SOR=0.763	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1329	6	0	1	0
chr12	55681815	55681815	C	T	exonic	METTL7B	.	nonsynonymous SNV	METTL7B:NM_152637:exon1:c.C61T:p.L21F	.	431	1064	25	2	0	29	0.0134446	.	.	.	702406	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.062	.	0.0042	0.000998403	0.0073	0.0010	0.0042	0	0.0012	0.0136	0.0150	0.0034	0.0027037	418	154602	rs199581976	0.0036	0.0036	0.0035	0.0037	0.0193	0.0035	0.0035	0.0164	0.0153	0.0011	0.0027	0.0266	0	0.0007	0.0193	0.0033	0.0054	0.0027	0.0034	0.0034	0.0036	0.0032	0.0041	0.0032	0.0031	0.0037	0.0036	0.0008	0.0088	0.0031	0.0282	0	0.0006	0.0204	0.0041	0.0109	0.0029	0.005	0.63226	D	0.025	0.60337	D	0.008	0.14655	B	0.012	0.16012	B	0.033067	0.24945	U	0.331836	0.99201	0.41532	D	2.94	0.84723	M	1.8	0.25344	T	-2.9	0.60827	D	0.4	0.44090	-1.0594	0.11905	T	0.046	0.19680	T	10	0.0033551455	0.00058	T	.	.	.	0.062	0.17934	.	.	0.0675242888579	0.06100	0.8861837634931694	0.88587	0.0410168488921	0.04401	0.481642216444	0.36283	T	0.035111	0.24699	T	-0.575825	0.00204	T	-0.598818	0.12910	T	0.0420220997220355	0.04059	T	0.50025	0.15636	T	0.24753305	0.47732	0.29166937	0.55192	0.24753305	0.47732	0.29166937	0.55191	-5.103	0.37939	T	.	.	0.104	0.24733	B	.;.	.;.	2.197060	0.28021	17.66	0.99204784752352737	0.55381	0.48273	0.28170	N	ALL	0.875120	0.79836	D	-0.54545360957274	0.20627	1.08873	-0.562489992760993	0.20475	1.103277	0.999999999986705	0.74766	0.59774	0.34471	0	0.552344	0.17405	0	0.519653	0.09787	0	0.63947	0.58350	0	.	.	4.75	2.93	0.33092	-0.894000	0.04230	.	.	0.549000	0.26987	0.000000	0.06391	0.759000	0.26609	0.674000	0.33367	0.1728:0.5688:0.1673:0.0911	3.582	0.07507	725	0.54935	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019467	0.025253	0.017956	0.017857	0.000000	0.054545	0.015528	0.007692	0.08333	1051.27	33	chr12	55681815	.	C	T	1051.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.36;DP=259;ExcessHet=0;FS=3.98;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=0.936;SOR=1.121	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1050	5	0	1	1
chr12	55693209	55693209	C	T	exonic	ITGA7	.	nonsynonymous SNV	ITGA7:NM_001367994:exon19:c.G1300A:p.E434K,ITGA7:NM_001144996:exon20:c.G2656A:p.E886K,ITGA7:NM_001144997:exon20:c.G2365A:p.E789K,ITGA7:NM_001374465:exon20:c.G2626A:p.E876K,ITGA7:NM_002206:exon20:c.G2644A:p.E882K,ITGA7:NM_001367993:exon21:c.G2317A:p.E773K	Muscular dystrophy, congenital, due to ITGA7 deficiency, Autosomal recessive	1	1484	35	2	0	39	0.0129697	.	.	.	99943	not_provided|ITGA7-related_disorder|Congenital_muscular_dystrophy_due_to_integrin_alpha-7_deficiency|not_specified	MedGen:C3661900|.|MONDO:MONDO:0013177,MedGen:C2750786,OMIM:613204,Orphanet:34520|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.165	.	0.0028	0.00119808	0.0040	0.0009	0.0021	0.0001	0.0009	0.0060	0.0132	0.0019	0.0038357	593	154602	rs144983062	0.0036	0.0036	0.0035	0.0037	0.0199	0.0035	0.0035	0.0170	0.0159	0.0011	0.0026	0.0282	2.519e-05	0.0007	0.0199	0.0033	0.0056	0.0027	0.0034	0.0035	0.0036	0.0032	0.0041	0.0032	0.0031	0.0036	0.0035	0.0008	0.0088	0.0041	0.0308	0	0.0005	0.0136	0.0040	0.0099	0.0023	0.099	0.30800	T	0.537	0.15746	T	0.307	0.32716	B	0.316	0.42592	B	0.030206	0.25342	N	0.401896	0.886497	0.35859	D	1.84	0.48285	L	0.78	0.49358	T	-1.8	0.42957	N	0.682	0.71942	-0.8686	0.50635	T	0.149	0.47610	T	10	0.00966835	0.00218	T	.	.	.	0.165	0.42395	.	.	0.446410834509	0.44261	0.3873274616763816	0.38647	0.553777361804	0.52138	0.650003910065	0.59987	T	0.014438	0.43425	T	-0.294246	0.09214	T	-0.194624	0.55155	T	0.023265311468717	0.01055	T	0.89671	0.63922	D	0.121053405	0.28473	0.12380122	0.29848	0.120533876	0.28361	0.1123319	0.27102	-7.277	0.57165	T	.	.	0.136	0.29697	B	.;.;.;.;.	.;.;.;.;.	3.828538	0.55324	23.6	0.99877453271086847	0.95410	0.59895	0.31042	D	AEFGBI	0.244218	0.36536	N	0.0116875107614855	0.42385	2.552875	0.10039628931083	0.44569	2.736162	0.969611658293391	0.29142	0.732398	0.92422	0	0.670034	0.63936	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.83	4.83	0.61880	2.603000	0.45930	.	.	0.545000	0.25583	0.993000	0.37899	1.000000	0.68203	0.916000	0.45140	0.0:0.8212:0.1788:0.0	11.718	0.50929	735	0.53711	.;.;Integrin alpha-2;.;Integrin alpha-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014602	0.020202	0.014946	0.011696	0.000000	0.043103	0.009146	0.003788	0.08333	1292.27	34	chr12	55693209	.	C	T	1292.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.284;DP=275;ExcessHet=0;FS=0.737;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=1.09;SOR=0.764	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1136	5	0	1	1
chr12	55935942	55935942	G	A	exonic	DGKA	.	nonsynonymous SNV	DGKA:NM_001351035:exon1:c.G17A:p.G6E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.199e-06	6.84e-07	0	2.595e-06	1.311e-06	0	0	.	.	0	0	0	0	0	0	1.311e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	33.12	3	chr12	55935942	.	G	A	33.12	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.967;DP=14;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	./.:.:.:.:.	3	0	1	3
chr12	56311318	56311318	G	-	exonic	CNPY2	.	frameshift deletion	CNPY2:NM_014255:exon4:c.301delC:p.H101Ifs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	3.84e-05	1	26028	rs752925703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	39.4	34	chr12	56311317	.	TG	T	39.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.63;ReadPosRankSum=1.07;SOR=0.446	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1359	6	0	1	0
chr12	56324597	56324597	C	T	exonic	PAN2	.	nonsynonymous SNV	PAN2:NM_001127460:exon11:c.G1712A:p.R571H,PAN2:NM_001166279:exon11:c.G1712A:p.R571H,PAN2:NM_014871:exon11:c.G1712A:p.R571H	.	432	1086	4	0	0	4	0.00183824	.	.	.	725202	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.220	0.00768161018155	0.0038	0.00239617	0.0037	0.0003	0.0005	0	0.0086	0.0050	0.0022	0.0031	0.0038809	600	154602	rs117027379	0.0044	0.0044	0.0043	0.0044	0.0050	0.0043	0.0043	0.0049	0.0049	0.0006	0.0007	3.83e-05	2.519e-05	0.0078	0.0002	0.0050	0.0024	0.0025	0.0034	0.0034	0.0034	0.0034	0.0052	0.0031	0.0030	0.0048	0.0046	0.0007	0	0.0011	0.0003	0	0.0092	0	0.0052	0.0014	0.0021	0.015	0.52492	D	0.078	0.42261	T	0.999	0.77913	D	0.938	0.67350	D	0.000000	0.84330	D	0.000000	0.999947	0.51968	D	2.015	0.55033	M	3.39	0.05710	T	-2.04	0.46842	N	0.613	0.67391	-1.2036	0.00124	T	0.036	0.15596	T	10	0.010620743	0.00236	T	0.007682	0.20378	T	0.220	0.51569	.	.	0.560327509995	0.55694	0.4790461592130438	0.47824	1.56828028248	0.88144	0.808421850204	0.83251	D	0.064588	0.32472	T	-0.25882	0.13037	T	-0.139427	0.60167	T	0.0322358655878006	0.02344	T	0.988501	0.96026	D	0.2565351	0.48694	0.1619504	0.37644	0.2565351	0.48693	0.1619504	0.37643	-9.807	0.73292	D	.	.	0.179	0.38941	B	.;.;.;.;.	.;.;.;.;.	5.179422	0.86839	29.0	0.99925063710930839	0.99042	0.97815	0.77336	D	AEFDBI	0.741762	0.68559	D	0.666813097316137	0.77460	6.679042	0.672364605266504	0.80287	7.265266	0.999999883388523	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.3	5.3	0.74745	6.100000	0.71123	7.694000	0.65937	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.125	0.89514	290	0.88477	PAN2 domain|Ubiquitin specific protease domain;PAN2 domain|Ubiquitin specific protease domain;.;.;PAN2 domain|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.010101	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	765.49	35	chr12	56324597	.	C	T	765.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.69;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=3.14;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1282	6	0	1	0
chr12	56326648	56326648	A	C	exonic	PAN2	.	nonsynonymous SNV	PAN2:NM_001127460:exon7:c.T1231G:p.W411G,PAN2:NM_001166279:exon7:c.T1231G:p.W411G,PAN2:NM_014871:exon7:c.T1231G:p.W411G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.612	0.133780582699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	0.999	0.90584	D	0.94	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.92	0.84325	M	3.4	0.05642	T	-10.61	0.99112	D	0.885	0.88466	-1.0241	0.22377	T	0.079	0.31254	T	10	0.90898645	0.90264	D	0.133781	0.81618	D	0.612	0.84826	0.752	0.88237	0.851619416047	0.85019	0.9247466260483579	0.92451	1.6732094712	0.89882	0.832624435425	0.86966	D	0.551398	0.84817	D	0.251374	0.78731	D	0.123305	0.78454	D	0.999693870544434	0.98532	D	0.909809	0.68064	D	0.8348947	0.86245	0.7615565	0.85912	0.8348947	0.86247	0.7615565	0.85913	-13.566	0.91560	D	.	.	0.965	0.88748	P	.;.;.;.;.	.;.;.;.;.	4.881305	0.80062	27.2	0.97905528842437506	0.36773	0.98864	0.87871	D	AEFDBI	0.908837	0.86467	D	0.88310594423882	0.90907	10.62287	0.819976252669874	0.91147	10.742	0.999999972041743	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.08	5.08	0.68373	8.579000	0.90568	11.270000	0.91373	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	14.265	0.65662	293	0.88320	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2202.46	35	chr12	56326648	.	A	C	2202.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.153;DP=357;ExcessHet=0;FS=2.68;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-0.73;SOR=0.829	GT:AD:DP:GQ:PL	0/1:84,85:169:99:2213,0,2279	6	0	1	0
chr12	56433425	56433425	C	A	exonic	TIMELESS	.	nonsynonymous SNV	TIMELESS:NM_001330295:exon5:c.G385T:p.A129S,TIMELESS:NM_003920:exon5:c.G385T:p.A129S	.	430	1051	41	0	0	41	0.0191321	.	.	.	738762	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.032	.	0.0046	0.00638978	0.0079	0.0009	0.0024	0	0.0086	0.0065	0.0066	0.0255	0.0075937	1174	154602	rs72478986	0.0069	0.0069	0.0061	0.0076	0.0258	0.0068	0.0067	0.0249	0.0245	0.0005	0.0034	0.0054	2.519e-05	0.0086	0.0154	0.0059	0.0065	0.0258	0.0057	0.0057	0.0054	0.0059	0.0241	0.0053	0.0052	0.0205	0.0192	0.0011	0.0187	0.0051	0.0058	0.0004	0.0085	0.0102	0.0070	0.0076	0.0241	0.072	0.35165	T	0.04	0.50809	D	0.229	0.30546	B	0.174	0.35540	B	0.012069	0.29301	N	0.349556	0.854854	0.28443	N	1.15	0.29295	L	0.91	0.44856	T	-1.17	0.29933	N	0.395	0.43610	-1.0154	0.25207	T	0.101	0.37518	T	10	0.005491823	0.00121	T	.	.	.	0.032	0.07718	.	.	0.323342291347	0.31936	0.1607800497811879	0.15999	0.171209344156	0.19289	0.346322804689	0.17378	T	0.102101	0.40949	T	-0.544533	0.00315	T	-0.535363	0.18754	T	0.0170223713933494	0.00451	T	0.873013	0.58094	D	0.0435973	0.06821	0.05841588	0.10790	0.0435973	0.06821	0.05841588	0.10790	-3.821	0.21119	T	.	.	0.111	0.21466	B	.;.	.;.	2.246897	0.28697	17.88	0.98645243699174356	0.44110	0.97081	0.72578	D	AEFBI	0.257301	0.37605	N	-0.411462268572135	0.25066	1.358009	-0.299378036005498	0.28119	1.56532	0.0742263954363048	0.15659	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.42	0.088	0.13762	0.926000	0.28405	0.126000	0.14982	0.599000	0.40250	0.562000	0.27441	0.685000	0.26142	0.998000	0.85391	0.0:0.3314:0.3729:0.2956	5.881	0.18101	147	0.94143	Timeless protein;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.010070	0.000000	0.005435	0.002924	0.000000	0.000000	0.018293	0.034091	0.07143	695.53	38	chr12	56433425	.	C	A	695.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.117;DP=249;ExcessHet=0;FS=3.155;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=0.151;SOR=1.083	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1031	6	0	1	0
chr12	56643425	56643425	T	C	exonic	ATP5F1B	.	nonsynonymous SNV	ATP5F1B:NM_001686:exon5:c.A770G:p.N257S	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.0106379533166	0.0034	0.000599042	0.0028	0.0007	0.0003	0	0.0003	0.0043	0.0022	0.0020	0.0028978	448	154602	rs142007312	0.0037	0.0037	0.0038	0.0037	0.0046	0.0036	0.0036	0.0045	0.0044	0.0006	0.0007	3.826e-05	2.519e-05	0.0004	0.0005	0.0046	0.0020	0.0021	0.0024	0.0024	0.0027	0.0021	0.0046	0.0022	0.0021	0.0041	0.0040	0.0008	0	0.0010	0.0003	0.0002	0.0003	0	0.0046	0.0005	0.0008	0.691	0.07473	T	0.236	0.27591	T	0.003	0.11197	B	0.002	0.06944	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.115	0.28702	L	-1.45	0.81318	T	-0.59	0.18670	N	0.612	0.62866	-0.7026	0.60314	T	0.279	0.65129	T	10	0.010383248	0.00231	T	0.010638	0.27409	T	0.226	0.52472	.	.	0.607851434931	0.60470	0.8806657926099286	0.88034	0.980352541565	0.73717	0.702140927315	0.67454	T	0.244257	0.61333	T	-0.334326	0.05790	T	-0.246473	0.50166	T	0.0617092464295251	0.07436	T	0.987201	0.95706	D	0.14583439	0.33411	0.09691122	0.23047	0.14583439	0.33410	0.09691122	0.23047	-6.769	0.52328	T	.	.	0.053	0.03849	B	.;.;.;.	.;.;.;.	2.965588	0.39511	21.0	0.92475427104090302	0.21905	0.97193	0.73238	D	AEFDBCI	0.956905	0.97576	D	-0.0554402858938165	0.39360	2.319822	0.196613346740044	0.49661	3.166643	0.999999999999931	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.89	5.89	0.94758	7.884000	0.85773	7.913000	0.74126	0.645000	0.52629	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.291	0.73567	70	0.97015	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain|AAA+ ATPase domain;AAA+ ATPase domain;.;ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	451.83	35	chr12	56643425	.	T	C	451.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.04;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=0.311;SOR=0.859	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1226	6	0	1	0
chr12	56664498	56664498	-	TTTCCATCACTGTCTTTTAAATCAGCATCTGCTCCATTGATTTCTGGTAAATCCA	exonic	PTGES3	.	frameshift insertion	PTGES3:NM_001282605:exon6:c.310_311insTGGATTTACCAGAAATCAATGGAGCAGATGCTGATTTAAAAGACAGTGATGGAAA:p.K104Mfs*47,PTGES3:NM_001282601:exon7:c.400_401insTGGATTTACCAGAAATCAATGGAGCAGATGCTGATTTAAAAGACAGTGATGGAAA:p.K134Mfs*47,PTGES3:NM_001282602:exon7:c.373_374insTGGATTTACCAGAAATCAATGGAGCAGATGCTGATTTAAAAGACAGTGATGGAAA:p.K125Mfs*47,PTGES3:NM_001282603:exon7:c.364_365insTGGATTTACCAGAAATCAATGGAGCAGATGCTGATTTAAAAGACAGTGATGGAAA:p.K122Mfs*47,PTGES3:NM_006601:exon8:c.463_464insTGGATTTACCAGAAATCAATGGAGCAGATGCTGATTTAAAAGACAGTGATGGAAA:p.K155Mfs*47,PTGES3:NM_001282604:exon9:c.475_476insTGGATTTACCAGAAATCAATGGAGCAGATGCTGATTTAAAAGACAGTGATGGAAA:p.K159Mfs*47	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.317e-05	0.0002	1.289e-05	1.346e-05	6.554e-05	2.19e-06	8.2e-07	.	.	2.416e-05	0	6.554e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	66.64	20	chr12	56664498	.	T	TTTTCCATCACTGTCTTTTAAATCAGCATCTGCTCCATTGATTTCTGGTAAATCCA	66.64	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.43;DP=101;ExcessHet=0;FS=10.62;MLEAC=1;MLEAF=0.071;MQ=56.32;MQRankSum=-4.136;QD=3.51;ReadPosRankSum=0.28;SOR=2.798	GT:AD:DP:GQ:PL	0/0:19,0:19:51:0,51,765	6	0	1	0
chr12	56923964	56923964	G	A	exonic	SDR9C7	.	nonsynonymous SNV	SDR9C7:NM_148897:exon4:c.C811T:p.R271W	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.484	0.0641725543304	.	.	2.472e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs770439255	3.899e-05	3.899e-05	2.178e-05	5.638e-05	0.0002	3.047e-05	2.783e-05	0.0002	0.0001	0	0	0	0	1.872e-05	0	3.148e-05	0	0.0002	2.63e-05	2.627e-05	2.571e-05	2.691e-05	0.0004	8.14e-06	5.14e-06	7.29e-05	3.029e-05	0	0	0	0.0006	0	0	0	0	0	0.0004	0.119	0.28026	T	0.189	0.28575	T	0.63	0.40197	P	0.099	0.30579	B	0.007790	0.31194	N	0.222920	0.939534	0.37264	D	2.85	0.82803	M	-2.04	0.85703	D	-1.87	0.43717	N	0.482	0.51672	0.146	0.84989	D	0.501	0.81164	D	10	0.27692813	0.45258	T	0.064173	0.69195	D	0.484	0.77335	0.551	0.66716	0.876282451974	0.87507	0.7293446394995188	0.72879	0.692741254437	0.60680	0.395825028419	0.24488	T	0.071782	0.34293	T	-0.109811	0.34798	T	-0.135833	0.60478	T	0.344744712293792	0.26811	T	0.510949	0.16331	T	0.12820964	0.29981	0.13163596	0.31604	0.12820964	0.29981	0.13163596	0.31603	-6.682	0.51675	T	0.2754275391228092	0.36982	0.241	0.47524	B	.	.	2.974924	0.39663	21.0	0.99595678186825054	0.73866	0.36206	0.25480	N	AEFBI	0.499924	0.53340	N	0.102715870260686	0.46588	2.896985	0.139027405255785	0.46563	2.900322	0.909380769255184	0.26310	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.52	5.52	0.82153	0.199000	0.17037	1.000000	0.23254	0.676000	0.76740	0.000000	0.06391	0.998000	0.33993	0.998000	0.85391	0.0:0.1495:0.8505:0.0	14.242	0.65508	427	0.81056	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2541.53	34	chr12	56923964	.	G	A	2541.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.17;DP=373;ExcessHet=0;FS=0.55;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-1.047;SOR=0.641	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	6	0	1	0
chr12	57038958	57038958	C	G	exonic	MYO1A	.	nonsynonymous SNV	MYO1A:NM_005379:exon16:c.G1384C:p.V462L,MYO1A:NM_001256041:exon17:c.G1384C:p.V462L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0381980376133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	0.25664	T	0.211	0.26631	T	0.316	0.32901	B	0.131	0.32951	B	0.000143	0.49130	D	0.176421	0.640665	0.32873	D	-0.345	0.03330	N	-2.24	0.87194	D	-0.8	0.22078	N	0.309	0.34874	-0.4561	0.70198	T	0.290	0.66201	T	10	0.17061564	0.31735	T	0.038198	0.58078	D	0.205	0.49236	0.329	0.31357	0.629359936291	0.62633	0.17966659664554677	0.17885	0.102991684009	0.11653	0.406162768602	0.25926	T	0.233045	0.59975	T	-0.067909	0.41662	T	-0.335323	0.40873	T	0.824005007743835	0.48072	D	0.949505	0.80559	D	0.07749079	0.17590	0.08372528	0.19209	0.07749079	0.17590	0.08372528	0.19209	-3.099	0.11285	T	.	.	0.129	0.27553	B	.;.	.;.	2.992561	0.39959	21.1	0.99084223923303616	0.52051	0.44893	0.27418	N	AEFBCI	0.528254	0.54986	D	-0.372177240034277	0.26464	1.444557	-0.237820604102338	0.30192	1.697903	0.999960018707071	0.48965	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.55	3.65	0.40985	1.480000	0.35072	0.787000	0.21533	0.599000	0.40250	0.055000	0.21596	0.246000	0.23885	0.999000	0.91618	0.0:0.8029:0.0:0.1971	6.240	0.19995	174	0.93268	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1520.44	35	chr12	57038958	.	C	G	1520.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.53;DP=358;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=-1.186;SOR=0.672	GT:AD:DP:GQ:PL	0/1:104,63:167:99:1531,0,2499	6	0	1	0
chr12	57191499	57191499	C	G	exonic	LRP1	.	nonsynonymous SNV	LRP1:NM_002332:exon44:c.C7416G:p.N2472K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.0155819797314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.20306	T	0.266	0.22627	T	0.005	0.12996	B	0.007	0.12992	B	0.011613	0.29466	N	0.296074	0.999953	0.19072	N	0.61	0.15665	N	-2.22	0.87038	D	-2.43	0.53258	N	0.285	0.32259	-0.7524	0.57810	T	0.337	0.70363	T	10	0.10615203	0.19656	T	0.015582	0.36391	T	0.283	0.60100	0.55	0.66576	0.530550572561	0.52702	0.9449050656557478	0.94472	.	.	0.677580535412	0.63921	T	0.270243	0.64250	T	-0.168866	0.25407	T	-0.480341	0.24409	T	0.152088835835457	0.17269	T	0.759324	0.38363	T	0.14629224	0.33497	0.110489294	0.26642	0.14629224	0.33496	0.110489294	0.26641	-8.78	0.66270	D	.	.	0.332	0.55376	B	.	.	-0.199163	0.03094	0.488	0.92517959876429756	0.21959	0.30916	0.24205	N	AEFDGBCI	0.212996	0.33862	N	-1.85757408423229	0.00419	0.01802062	-1.86639519284732	0.00569	0.02525967	0.999999807388906	0.74766	0.722319	0.85440	0	0.593476	0.48661	0	0.698795	0.65105	0	0.622129	0.49086	0	.	.	4.61	-8.45	0.00826	-2.498000	0.01045	-4.843000	0.01961	-1.138000	0.01446	0.000000	0.06391	0.000000	0.08366	0.965000	0.52897	0.0:0.5083:0.1007:0.391	11.652	0.50553	345	0.85689	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	123.44	43	chr12	57191499	.	C	G	123.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.72;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=-0.141;SOR=1.022	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1316	6	0	1	0
chr12	57272472	57272472	G	A	exonic	R3HDM2	.	nonsynonymous SNV	R3HDM2:NM_001351213:exon13:c.C1331T:p.P444L,R3HDM2:NM_001351214:exon13:c.C1331T:p.P444L,R3HDM2:NM_001351215:exon13:c.C1331T:p.P444L,R3HDM2:NM_001330122:exon14:c.C1385T:p.P462L,R3HDM2:NM_001351208:exon14:c.C1427T:p.P476L,R3HDM2:NM_001351212:exon14:c.C1331T:p.P444L,R3HDM2:NM_001330121:exon15:c.C1385T:p.P462L,R3HDM2:NM_001351205:exon15:c.C1481T:p.P494L,R3HDM2:NM_001351206:exon15:c.C1481T:p.P494L,R3HDM2:NM_001351204:exon16:c.C1481T:p.P494L,R3HDM2:NM_001351207:exon17:c.C1451T:p.P484L	.	418	1079	24	1	0	26	0.0119048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.0298082584246	.	0.000798722	0.0015	0	0	0	0	0.0010	0	0.0026	0.0002393	37	154602	rs143617893	0.0008	0.0008	0.0007	0.0009	0.0084	0.0008	0.0008	0.0065	0.0059	0.0003	0.0006	0.0002	0	4.133e-05	0.0084	0.0008	0.0014	0.0023	0.0007	0.0007	0.0007	0.0008	0.0019	0.0006	0.0006	0.0010	0.0008	0.0002	0	0.0009	0.0003	0.0002	0	0.0102	0.0011	0.0014	0.0019	0.0	0.91255	D	0.12	0.52060	T	1.0	0.90584	D	0.995	0.83170	D	.	.	.	.	0.999999	0.81001	D	.	.	.	0.72	0.50976	T	-4.23	0.75935	D	0.684	0.70088	-0.7567	0.57583	T	0.259	0.62977	T	8	0.027980268	0.00936	T	0.029808	0.52246	D	0.327	0.64926	.	.	0.547863905467	0.54442	0.4124449609622846	0.41160	.	.	.	.	.	0.09289	0.39097	T	-0.141926	0.29583	T	0.0168812	0.71428	D	0.155121161964957	0.17504	T	0.959004	0.84537	D	.	.	.	.	.	.	.	.	-3.159	0.11986	T	.	.	0.249	0.48386	B	.;.	.;.	3.214957	0.43783	21.8	0.99782575883711377	0.86955	0.98272	0.81139	D	AEFDBI	0.919835	0.89094	D	0.698962197968543	0.79563	7.104418	0.68479593830285	0.81224	7.477021	0.999999999999919	0.74766	0.428477	0.06694	0	0.00446	0.00028	3	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.37	4.37	0.51830	9.048000	0.93289	9.646000	0.81159	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	16.904	0.85989	447	0.79583	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1969.45	36	chr12	57272472	.	G	A	1969.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.135;DP=354;ExcessHet=0;FS=0.601;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=-0.411;SOR=0.599	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1342	6	0	1	0
chr12	57449472	57449472	T	A	exonic	INHBC	.	nonsynonymous SNV	INHBC:NM_005538:exon2:c.T509A:p.L170Q	.	434	1075	13	0	0	13	0.00601017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	.	.	0.00559105	0.0030	0	0.0003	0	0	0	0.0011	0.0216	0.0025614	396	154602	rs532165478	0.0013	0.0013	0.0007	0.0020	0.0208	0.0013	0.0012	0.0200	0.0196	2.987e-05	0	0	0	0	0.0019	2.518e-05	0.0011	0.0208	0.0006	0.0006	0.0002	0.0010	0.0184	0.0005	0.0005	0.0153	0.0142	0	0	0	0	0	0	0	4.41e-05	0.0005	0.0184	0.016	0.51853	D	0.016	0.60972	D	0.991	0.64070	D	0.93	0.66466	D	0.126709	0.18795	N	0.523314	0.937312	0.26894	N	2.825	0.82220	M	-0.41	0.69413	T	-2.39	0.52612	N	0.655	0.66529	-0.5918	0.65148	T	0.375	0.73302	T	10	0.008748561	0.00198	T	.	.	.	0.462	0.75889	0.639	0.77579	0.935568539399	0.93490	0.83262381750537	0.83221	0.713869902088	0.61850	0.409085690975	0.26330	T	0.325133	0.69588	T	0.0404207	0.57102	T	-0.164229	0.57969	T	0.135682094969156	0.15898	T	0.687731	0.29668	T	0.30693832	0.53519	0.27898112	0.53863	0.30693832	0.53519	0.27898112	0.53862	-5.605	0.42838	T	.	.	0.098	0.16319	B	.	.	4.404166	0.68072	25.2	0.99276898852779616	0.57765	0.98938	0.88891	D	AEFBI	0.885035	0.81521	D	0.431369803448664	0.63154	4.543854	0.327136371227882	0.57140	3.878793	0.999859164659275	0.44174	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.27	4.27	0.50009	5.554000	0.66999	7.896000	0.73301	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.832000	0.39227	0.0:0.0:0.1717:0.8283	9.851	0.40228	265	0.89590	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.005848	0.000000	0.008621	0.000000	0.000000	0.07143	843.45	37	chr12	57449472	.	T	A	843.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.15;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=-0.129;SOR=0.743	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr12	57611984	57612025	GGGACGTGGTGAGTGCCAGGTCGAGAGGGTCCAGTGTTGAGT	-	exonic	ARHGEF25	.	frameshift deletion	ARHGEF25:NM_001347933:exon1:c.90_97del:p.G31Ifs*8,ARHGEF25:NM_182947:exon1:c.90_97del:p.G31Ifs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	52.4	37	chr12	57611983	.	GGGGACGTGGTGAGTGCCAGGTCGAGAGGGTCCAGTGTTGAGT	G	52.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.82;ReadPosRankSum=0.282;SOR=0.495	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1007	6	0	1	0
chr12	57615949	57615949	C	T	exonic	ARHGEF25	.	nonsynonymous SNV	ARHGEF25:NM_001347933:exon12:c.C1262T:p.P421L,ARHGEF25:NM_182947:exon13:c.C1352T:p.P451L,ARHGEF25:NM_001111270:exon14:c.C1469T:p.P490L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00947672918644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.39334	T	0.182	0.31629	T	0.002	0.09854	B	0.002	0.06944	B	0.254916	0.15432	N	0.494365	0.999768	0.53665	D	0.98	0.24916	L	1.64	0.27822	T	-4.59	0.78891	D	0.633	0.66101	-1.1012	0.03949	T	0.051	0.21767	T	10	0.39634714	0.55254	T	0.009477	0.24832	T	0.070	0.20419	0.377	0.39156	0.254761474806	0.25079	0.5159243835802668	0.51515	0.394637730174	0.40617	0.40506964922	0.25774	T	0.083203	0.37001	T	-0.206328	0.19900	T	-0.534153	0.18873	T	0.80665922164917	0.46812	D	0.873813	0.58316	D	0.13226965	0.30805	0.14582121	0.34569	0.13226965	0.30805	0.14582121	0.34568	-5.992	0.46737	T	.	.	0.111	0.22897	B	.;.;.	.;.;.	3.601765	0.50874	23.0	0.96721910534215183	0.30851	0.98609	0.84658	D	AEFGBI	0.728380	0.67642	D	-0.0257252945969311	0.40693	2.421008	0.102773820466365	0.44690	2.745901	0.99988673555854	0.44867	0.536767	0.22168	0	0.693144	0.66847	0	0.383324	0.06259	0	0.579976	0.35079	0	.	.	4.87	3.98	0.45383	5.947000	0.69957	2.759000	0.34591	0.599000	0.40250	0.998000	0.41325	0.125000	0.22942	0.977000	0.56843	0.1805:0.7273:0.0:0.0922	6.372	0.20690	287	0.88635	.;Pleckstrin homology domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	940.45	41	chr12	57615949	.	C	T	940.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.67;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.5;ReadPosRankSum=0.877;SOR=0.749	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	6	0	1	0
chr12	57718260	57718265	GAGGAT	-	exonic	OS9	.	nonframeshift deletion	OS9:NM_001261421:exon10:c.1153_1158del:p.D396_E397del,OS9:NM_001261422:exon10:c.1093_1098del:p.D376_E377del,OS9:NM_001261423:exon10:c.1072_1077del:p.D369_E370del,OS9:NM_001017956:exon11:c.1249_1254del:p.D428_E429del,OS9:NM_001017957:exon11:c.1249_1254del:p.D428_E429del,OS9:NM_001017958:exon11:c.1249_1254del:p.D428_E429del,OS9:NM_001261420:exon11:c.1252_1257del:p.D429_E430del,OS9:NM_006812:exon11:c.1249_1254del:p.D428_E429del	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0002	0.0003	0.0002	0.0003	0.0001	0.0011	0.0009	0.0001153	3	26028	rs749881810	0.0003	0.0003	0.0002	0.0003	0.0021	0.0003	0.0003	0.0015	0.0014	0.0002	0.0004	3.826e-05	0.0005	0.0002	0.0021	0.0002	0.0002	0.0017	0.0003	0.0003	0.0002	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	0.0002	0	0.0001	0	0.0008	0	0	0.0002	0	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1906.42	36	chr12	57718259	.	GGAGGAT	G	1906.42	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.93;DP=304;ExcessHet=0;FS=2.44;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.17;ReadPosRankSum=0.306;SOR=0.639	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1133	6	0	1	0
chr12	57751081	57751081	G	A	exonic	CDK4	.	nonsynonymous SNV	CDK4:NM_000075:exon4:c.C364T:p.R122C	.	.	.	.	.	.	.	.	.	.	.	137613	Familial_melanoma|not_provided|not_specified|Melanoma,_cutaneous_malignant,_susceptibility_to,_3|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0018961,MedGen:C1512419,Orphanet:618|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012183,MedGen:C1836892,OMIM:609048,Orphanet:618|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.210	0.00959958098929	.	.	2.471e-05	0	8.637e-05	0	0	1.498e-05	0	6.056e-05	1.94e-05	3	154602	rs587778185	9.577e-06	9.577e-06	9.529e-06	9.625e-06	4.637e-05	5.56e-06	4.35e-06	1.583e-05	9.3e-06	0	2.236e-05	0	0	0	0	8.093e-06	0	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.39097	T	0.123	0.37173	T	0.995	0.67487	D	0.708	0.54437	P	0.008063	0.31035	N	0.299629	1	0.81001	D	1.27	0.32069	L	0.85	0.47130	T	-4.52	0.78302	D	0.195	0.21449	-0.9638	0.38448	T	0.133	0.44484	T	10	0.37228715	0.53567	T	0.010	0.25107	T	0.210	0.50028	0.513	0.61153	0.730243032302	0.72784	0.6726061321920708	0.67198	0.868071758153	0.69291	0.430020272732	0.29211	T	0.532776	0.83861	D	-0.220582	0.17912	T	-0.373099	0.36526	T	0.654237449169159	0.38645	D	0.29727	0.44919	T	0.3747842	0.58936	0.392544	0.63997	0.3747842	0.58936	0.392544	0.63997	-5.676	0.43479	T	.	.	0.147	0.41449	B	.;.;.;.;.;.	.;.;.;.;.;.	4.238708	0.64244	24.7	0.99843525702029123	0.92403	0.43091	0.27022	N	AEFDGBHCI	0.415635	0.48441	N	0.0501565170874673	0.44150	2.694322	-0.0371729555417621	0.38051	2.236328	0.999999975246217	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	4.76	1.31	0.20837	0.439000	0.21293	4.736000	0.44580	0.676000	0.76740	0.148000	0.23625	1.000000	0.68203	0.994000	0.71098	0.2204:0.0:0.54:0.2396	4.579	0.11642	174	0.93268	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1123.44	111	chr12	57751081	.	G	A	1123.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.775;DP=315;ExcessHet=0;FS=1.518;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=1.44;SOR=0.856	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1112	6	0	1	0
chr12	57796402	57796402	T	A	exonic	TSFM	.	nonsynonymous SNV	TSFM:NM_005726:exon6:c.T797A:p.L266H,TSFM:NM_001172696:exon7:c.T860A:p.L287H	Combined oxidative phosphorylation deficiency 3, Autosomal recessive	0	1507	14	1	0	16	0.00528053	.	.	YES	549993	not_provided|Fatal_mitochondrial_disease_due_to_combined_oxidative_phosphorylation_defect_type_3|TSFM-related_disorder	MedGen:C3661900|MONDO:MONDO:0012512,MedGen:C1864840,OMIM:610505,Orphanet:168566|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.488	0.0755807729152	0.0010	0.000199681	0.0017	0.0003	0.0006	0	0.0005	0.0021	0.0016	0.0027	0.0011707	181	154602	rs146777264	0.0014	0.0014	0.0014	0.0015	0.0028	0.0014	0.0014	0.0020	0.0019	9.008e-05	0.0021	0	0	0.0004	0.0028	0.0015	0.0018	0.0023	0.0016	0.0016	0.0014	0.0017	0.0070	0.0014	0.0013	0.0059	0.0055	0.0002	0	0.0070	0	0	0.0003	0.0068	0.0016	0.0019	0.0015	0.097	0.31383	T	0.128	0.35330	T	0.562	0.47796	P	0.62	0.51382	P	0.005287	0.32928	N	0.287528	0.803878	0.81001	D	2.495	0.72670	M	-1.07	0.76948	T	-2.65	0.56787	D	0.447	0.61933	0.168	0.85370	D	0.483	0.80265	T	10	0.024766356	0.00693	T	0.075581	0.72323	D	0.488	0.77592	.	.	0.974076756712	0.97379	0.5422588016396235	0.54150	0.387639376982	0.40038	0.552170753479	0.46163	T	0.286139	0.65893	T	-0.159033	0.26908	T	0.00111825	0.70409	D	0.0413135387144675	0.03928	T	0.828817	0.51465	T	0.20617895	0.42784	0.28467306	0.54467	0.17915486	0.38972	0.2952708	0.55558	-12.153	0.85589	D	.	.	0.162	0.35808	B	.;.	.;.	4.157180	0.62404	24.5	0.95571718316225629	0.27265	0.88405	0.48318	D	AEFDBI	0.491853	0.52874	N	0.323185511039099	0.57340	3.901005	0.385697330241731	0.60681	4.258566	0.998383183525181	0.36869	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	2.711000	0.46845	2.946000	0.35689	0.665000	0.62972	0.953000	0.33222	1.000000	0.68203	0.835000	0.39381	0.0:0.0:0.0:1.0	14.568	0.67783	193	0.92507	Translation elongation factor EFTs/EF1B, dimerisation;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.004076	0.005848	0.000000	0.000000	0.003067	0.000000	0.07143	70.44	33	chr12	57796402	.	T	A	70.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-1.111;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1189	6	0	1	0
chr12	59775376	59775376	A	G	exonic	SLC16A7	.	nonsynonymous SNV	SLC16A7:NM_004731:exon4:c.A1081G:p.T361A,SLC16A7:NM_001270622:exon5:c.A1081G:p.T361A,SLC16A7:NM_001270623:exon5:c.A1081G:p.T361A	.	429	1081	10	2	0	14	0.00643382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0169708297731	0.0002	0.00179712	0.0015	9.61e-05	0.0005	0	0	0.0001	0.0022	0.0098	0.0012872	199	154602	rs143304922	0.0007	0.0007	0.0004	0.0010	0.0096	0.0007	0.0007	0.0091	0.0089	0	8.946e-05	3.826e-05	0	1.872e-05	0.0043	0.0001	0.0010	0.0096	0.0005	0.0005	0.0004	0.0006	0.0086	0.0004	0.0004	0.0065	0.0058	7.288e-05	0	0.0002	0	0	0	0.0034	0.0004	0.0005	0.0086	0.02	0.52492	D	0.088	0.41913	T	0.868	0.47740	P	0.644	0.52249	P	0.000069	0.52346	D	0.198001	0.998489	0.46174	D	1.995	0.54099	M	1.01	0.41058	T	-1.99	0.48850	N	0.632	0.66615	-0.9891	0.32828	T	0.145	0.46823	T	9	0.010718942	0.00237	T	0.016971	0.38471	T	0.189	0.46613	.	.	0.577534042849	0.57422	0.45691763541533287	0.45609	0.200536113412	0.22454	0.504253149033	0.39420	T	0.183169	0.54321	T	-0.403557	0.02194	T	-0.344925	0.39786	T	0.0933221570739685	0.11607	T	0.90391	0.70896	D	0.54180837	0.69497	0.17784451	0.40414	0.54180837	0.69498	0.17784451	0.40413	-3.492	0.16320	T	.	.	0.214	0.50472	B	.;.;.;.;.	.;.;.;.;.	3.607230	0.50976	23.0	0.99684936706490079	0.79507	0.95673	0.65672	D	AEFI	0.543630	0.55888	D	0.213590797103061	0.51858	3.363847	0.184636665345029	0.49006	3.109056	0.00357927579864097	0.10184	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.77	3.33	0.37245	4.425000	0.59623	6.107000	0.53619	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.7452:0.0:0.0:0.2548	11.077	0.47257	892	0.26670	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003535	0.000000	0.002717	0.008876	0.000000	0.000000	0.006098	0.007576	0.07143	1694.45	33	chr12	59775376	.	A	G	1694.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.17;DP=328;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.672;SOR=0.732	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1183	6	0	1	0
chr12	62500822	62500822	A	G	exonic	MON2	.	nonsynonymous SNV	MON2:NM_001278469:exon6:c.A605G:p.N202S,MON2:NM_001278470:exon6:c.A605G:p.N202S,MON2:NM_001278471:exon6:c.A605G:p.N202S,MON2:NM_015026:exon6:c.A605G:p.N202S,MON2:NM_001278472:exon7:c.A389G:p.N130S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0162624549569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.923e-07	1.368e-06	1.378e-06	0	9.056e-07	0	0	.	.	0	0	0	0	0	0	9.056e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.815	0.04404	T	0.788	0.04330	T	0.044	0.21686	B	0.011	0.15521	B	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	0.14	0.08730	N	0.5	0.63403	T	-0.37	0.19933	N	0.407	0.45615	-0.9545	0.40185	T	0.130	0.44009	T	9	0.19283834	0.35029	T	0.016262	0.37429	T	0.134	0.36365	0.263	0.20788	0.168254554758	0.16434	0.2663518158334562	0.26548	.	.	0.517915308475	0.41332	T	0.011673	0.10383	T	-0.133293	0.30963	T	-0.429243	0.30020	T	0.584965169429779	0.35810	D	0.954405	0.82627	D	0.09306964	0.21850	0.08585857	0.19853	0.09306964	0.21849	0.08585857	0.19853	-2.02	0.03258	T	.	.	0.068	0.05145	B	.;.;.;.;.;.	.;.;.;.;.;.	3.397063	0.47056	22.4	0.89351276005807223	0.18723	0.97674	0.76325	D	AEFBI	0.858969	0.77657	D	-0.0218841698256791	0.40866	2.434347	0.180150362599368	0.48759	3.087681	0.977350912856348	0.29813	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.23	5.23	0.72570	7.293000	0.78092	11.205000	0.89184	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.133	0.72213	724	0.55085	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	31	chr12	62500822	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=182;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,772	6	1	0	0
chr12	62544968	62544968	G	T	exonic	MON2	.	nonsynonymous SNV	MON2:NM_001278469:exon21:c.G2537T:p.G846V,MON2:NM_001278470:exon21:c.G2537T:p.G846V,MON2:NM_001278471:exon21:c.G2468T:p.G823V,MON2:NM_015026:exon21:c.G2537T:p.G846V,MON2:NM_001278472:exon22:c.G2321T:p.G774V	.	440	1072	10	0	0	10	0.00464253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.0274834662682	0.0022	0.00219649	0.0027	0.0007	0.0019	0	0	0.0036	0.0044	0.0037	0.0028848	446	154602	rs140799300	0.0035	0.0035	0.0035	0.0036	0.0073	0.0034	0.0034	0.0056	0.0050	0.0006	0.0024	0.0068	7.596e-05	0.0005	0.0073	0.0038	0.0040	0.0042	0.0028	0.0028	0.0028	0.0028	0.0051	0.0026	0.0025	0.0042	0.0039	0.0007	0	0.0051	0.0081	0	0.0007	0	0.0038	0.0052	0.0025	0.003	0.68238	D	0.006	0.70582	D	.	.	.	.	.	.	0.000004	0.62929	D	0.061993	1	0.81001	D	.	.	.	-0.05	0.63403	T	-1.4	0.38924	N	0.925	0.94196	-0.9938	0.31617	T	0.099	0.36932	T	9	0.009376019	0.00212	T	0.027483	0.50284	D	0.385	0.70194	.	.	0.792206061693	0.79027	0.7001671913752121	0.69957	.	.	0.805480480194	0.82798	D	0.034207	0.23230	T	-0.0140704	0.49695	T	0.207416	0.83530	D	0.06198255906322	0.07478	T	0.959204	0.84623	D	0.33396807	0.55793	0.3643407	0.61804	0.33396807	0.55793	0.3643407	0.61804	-4.407	0.30586	T	.	.	0.603	0.76282	P	.;.;.;.;.;.	.;.;.;.;.;.	4.382498	0.67565	25.1	0.98948110385522459	0.49074	0.99190	0.92559	D	AEFBI	0.905718	0.85759	D	-0.00894746412225098	0.41451	2.479474	0.217460237975234	0.50816	3.269768	0.99999952897414	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.77	4.88	0.63131	10.003000	0.99689	9.897000	0.82319	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0695:0.0:0.9305:0.0	14.662	0.68486	727	0.54702	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.005051	0.005435	0.002924	0.000000	0.000000	0.015244	0.018939	0.07143	590.63	36	chr12	62544968	.	G	T	590.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.8;DP=210;ExcessHet=0;FS=4.246;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=1.33;SOR=0.725	GT:AD:DP:GQ:PL	0/1:23,23:46:99:601,0,492	6	0	1	0
chr12	63597828	63597828	A	C	exonic	DPY19L2	.	nonsynonymous SNV	DPY19L2:NM_173812:exon14:c.T1442G:p.F481C	Spermatogenic failure 9, Autosomal recessive	58	1463	1	0	0	1	0.000341647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.023226530346	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-06	6.566e-06	0	1.346e-05	6.551e-05	0	0	.	.	0	0	6.551e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	U	0.000000	0.99888	0.45620	D	.	.	.	-0.28	0.67543	T	-6.92	0.93366	D	0.824	0.81957	-0.3679	0.73025	T	0.419	0.76476	T	9	0.92114335	0.91468	D	0.023227	0.46179	T	0.569	0.82460	0.792	0.91365	0.727300299738	0.72488	0.8944864441104081	0.89419	0.864377250249	0.69141	0.661555528641	0.61633	T	0.20094	0.55867	T	0.198493	0.73751	D	0.0473456	0.73408	D	0.983805119991302	0.75337	D	0.968503	0.88585	D	0.826373	0.85652	0.6319416	0.78525	0.826373	0.85654	0.6319416	0.78526	-14.304	0.94003	D	0.8955563399641344	0.94879	0.798	0.77181	P	.	.	3.984187	0.58592	24.0	0.9887113882432913	0.47649	0.74126	0.36258	D	AEFI	0.439027	0.49817	N	0.378871690780356	0.60279	4.215083	0.247386805893594	0.52501	3.424533	2.15171907148095E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	3.15	1.97	0.25278	4.188000	0.58149	6.112000	0.53677	0.375000	0.20354	1.000000	0.71638	1.000000	0.68203	0.833000	0.39279	0.8524:0.0:0.1476:0.0	4.992	0.13564	849	0.35778	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	175.49	33	chr12	63597828	.	A	C	175.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.338;DP=187;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=2.15;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,943	6	0	1	0
chr12	66331389	66331389	G	A	exonic	HELB	.	nonsynonymous SNV	HELB:NM_001370285:exon12:c.G2906A:p.R969Q,HELB:NM_033647:exon12:c.G2906A:p.R969Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00519748010343	.	.	.	.	.	.	.	.	.	.	.	.	.	rs747474183	3.42e-06	3.42e-06	0	6.875e-06	2.519e-05	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	2.519e-05	0	0	2.698e-06	1.656e-05	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	0.402	0.10412	T	0.579	0.08535	T	0.001	0.07471	B	0.0	0.01387	B	0.028337	0.01683	N	2.374580	1	0.08975	N	-0.69	0.01958	N	2.78	0.11298	T	-0.25	0.11008	N	0.052	0.02366	-0.9821	0.34515	T	0.011	0.04181	T	9	0.044000268	0.03309	T	0.005197	0.13248	T	0.003	0.00094	0.222	0.14518	0.107399877778	0.10242	0.22441360387613857	0.22356	0.184250353618	0.20723	0.220295995474	0.01327	T	0.001126	0.00635	T	-0.426184	0.01564	T	-0.84996	0.00960	T	0.0388850131691589	0.03489	T	.	.	.	0.018491862	0.00370	0.02375351	0.00388	0.018491862	0.00370	0.02375351	0.00388	-3.077	0.11033	T	.	.	0.068	0.02861	B	.	.	0.507937	0.08767	5.545	0.79836178675359215	0.12923	0.03069	0.07979	N	AEFBI	0.066583	0.13047	N	-2.04109526599739	0.00172	0.007385383	-1.98058360958928	0.00336	0.01485753	0.183336464876966	0.17901	0.615465	0.37627	0	0.577304	0.33150	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.24	-2.14	0.06725	-0.796000	0.04680	-0.308000	0.10061	-4.667000	0.00023	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2258:0.2487:0.4542:0.0713	5.667	0.16975	660	0.61921	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1455.46	33	chr12	66331389	.	G	A	1455.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.366;DP=373;ExcessHet=0;FS=5.631;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.19;ReadPosRankSum=1.26;SOR=1.011	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,99,1485:.	6	0	1	0
chr12	67657791	67657791	A	G	exonic	DYRK2	.	nonsynonymous SNV	DYRK2:NM_003583:exon2:c.A665G:p.N222S,DYRK2:NM_006482:exon3:c.A884G:p.N295S	.	427	1086	8	1	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118965556233	0.0025	0.00139776	0.0014	0.0007	0.0016	0	0	0.0020	0	0.0005	0.001533	237	154602	rs56293072	0.0026	0.0026	0.0027	0.0025	0.0031	0.0025	0.0025	0.0030	0.0030	0.0004	0.0019	0.0011	0	0.0003	0.0023	0.0031	0.0023	0.0007	0.0019	0.0019	0.0020	0.0018	0.0038	0.0017	0.0016	0.0030	0.0027	0.0006	0	0.0038	0.0014	0	9.414e-05	0	0.0028	0.0019	0.0002	0.054	0.46129	T	0.017	0.60337	D	0.118	0.26577	B	0.064	0.27215	B	0.000000	0.84330	D	0.040345	1	0.81001	D	0.465	0.13073	N	2.09	0.20122	T	-4.59	0.78891	D	0.069	0.15469	-1.0468	0.15303	T	0.024	0.10148	T	9	0.017895967	0.00385	T	0.011897	0.29978	T	0.098	0.28162	.	.	0.578027745229	0.57471	0.19468711837881433	0.19386	0.48101912929	0.47108	0.69347602129	0.66205	T	0.327167	0.69770	T	-0.624444	0.00103	T	-0.667413	0.07776	T	0.0679166506954679	0.08356	T	0.930207	0.74183	D	0.4895544	0.66476	0.38152814	0.63160	0.4895544	0.66477	0.38152814	0.63160	-4.98	0.41111	T	.	.	0.087	0.11220	B	.;.	.;.	3.002100	0.40121	21.1	0.98745171553656086	0.45572	0.86420	0.45696	D	AEFDBCI	0.341398	0.43789	N	-0.119130529074372	0.36561	2.114911	0.0749113818636404	0.43292	2.633938	0.999999639648651	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.34	5.34	0.75982	4.552000	0.60456	8.176000	0.76768	-0.122000	0.13826	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.9167:0.0:0.0833:0.0	10.391	0.43350	541	0.72942	Protein kinase domain|Protein kinase domain|Protein kinase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.010101	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	2084.44	34	chr12	67657791	.	A	G	2084.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.81;DP=408;ExcessHet=0;FS=3.172;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=-0.998;SOR=0.949	GT:AD:DP:GQ:PL	0/1:130,83:213:99:2095,0,3246	6	0	1	0
chr12	68251515	68251515	T	C	exonic	IL22	.	nonsynonymous SNV	IL22:NM_020525:exon5:c.A460G:p.K154E	.	426	1095	1	0	0	1	0.000456413	0.0002	0.006	.	2366418	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.038	0.00562882400348	0.0007	0.000399361	0.0003	0.0011	0.0007	0	0	0.0002	0.0011	0	0.0002264	35	154602	rs138190698	0.0002	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0005	0.0004	0.0006	0.0005	3.832e-05	0	0	0.0010	0.0003	0.0002	1.162e-05	0.0003	0.0003	0.0003	0.0003	0.0007	0.0003	0.0002	0.0005	0.0004	0.0007	0	0.0003	0	0	0	0.0102	0.0002	0.0009	0	0.135	0.26192	T	0.64	0.06970	T	0.002	0.09854	B	0.003	0.08700	B	0.280739	0.14950	N	0.669254	0.999242	0.21461	N	1.76	0.45711	L	0.95	0.43279	T	-2.57	0.55501	D	0.162	0.17002	-1.0334	0.19363	T	0.076	0.30522	T	9	0.031203657	0.01253	T	0.005629	0.14560	T	0.038	0.09825	.	.	0.431150418975	0.42736	0.2736831014506876	0.27281	0.14134607187	0.15935	0.394318521023	0.24277	T	0.193558	0.54907	T	-0.581197	0.00189	T	-0.658066	0.08398	T	0.0115075070440396	0.00173	T	0.561944	0.19701	T	0.39545178	0.60417	0.24188995	0.49597	0.39545178	0.60417	0.24188995	0.49595	-3.508	0.16543	T	.	.	0.086	0.11606	B	.;.	.;.	1.287238	0.16875	12.82	0.59984639971393239	0.06354	0.28721	0.23631	N	AEFGBI	0.073319	0.14661	N	-0.85320495215957	0.11971	0.5807764	-0.874770865995437	0.12693	0.6544281	0.0549783412051737	0.14997	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.6	-0.522	0.11332	-0.074000	0.11410	-1.186000	0.06083	-0.157000	0.11712	0.981000	0.35396	0.000000	0.08366	0.059000	0.15899	0.0:0.184:0.3399:0.4762	4.298	0.10352	945	0.12563	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.010101	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1067.44	100	chr12	68251515	.	T	C	1067.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.599;DP=291;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.746;SOR=0.643	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1219	6	0	1	0
chr12	68326611	68326611	T	G	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_020128:exon3:c.A544C:p.I182L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00507703861976	.	0.000199681	8.296e-06	0	8.669e-05	0	0	0	0	0	1.29e-05	2	154602	rs201190543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.565e-06	6.561e-06	1.285e-05	0	6.533e-05	0	0	.	.	0	0	6.533e-05	0	0	0	0	0	0	0	0.694	0.04251	T	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	0.82	0.48142	T	0.21	0.04776	N	0.154	0.15888	-1.0356	0.18668	T	0.048	0.20315	T	8	0.02474925	0.00692	T	0.005077	0.12877	T	0.011	0.01250	.	.	0.0666544352282	0.05500	.	.	.	.	.	.	.	.	.	.	-0.320937	0.06821	T	-0.69878	0.05893	T	0.0321661778307838	0.02332	T	0.174083	0.01670	T	.	.	.	.	.	.	.	.	-2.827	0.08435	T	.	.	0.092	0.13456	B	.	.	0.237496	0.06179	2.630	0.64544311127919973	0.07523	0.03409	0.08530	N	AEFBI	0.054749	0.09980	N	-1.33676225070402	0.03264	0.1455118	-1.35656878220326	0.03728	0.1745436	0.989941478693917	0.31984	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	3.95	-0.828	0.10253	-0.120000	0.10633	0.119000	0.14890	-0.347000	0.05626	0.000000	0.06391	0.002000	0.18203	0.011000	0.09372	0.1429:0.2234:0.1593:0.4743	1.512	0.02347	903	0.23940	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	44.44	35	chr12	68326611	.	T	G	44.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.068;DP=258;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.55;ReadPosRankSum=0.619;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1050:.	6	0	1	0
chr12	68326617	68326617	A	G	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_020128:exon3:c.T538C:p.F180L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00611522196759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	.	.	.	0.017	0.17573	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	0.82	0.48142	T	-0.03	0.07444	N	0.146	0.14763	-1.0301	0.20422	T	0.055	0.23338	T	8	0.06753895	0.09424	T	0.006115	0.15993	T	0.019	0.03383	0.319	0.29741	0.170165803431	0.16609	.	.	.	.	.	.	.	.	.	.	-0.277543	0.10930	T	-0.636448	0.09930	T	0.0716817650396531	0.08885	T	0.220278	0.02822	T	.	.	.	.	.	.	.	.	-3.035	0.10563	T	.	.	0.681	0.72185	P	.	.	0.953710	0.13297	9.801	0.52569022911139041	0.04773	0.16092	0.19227	N	AEFBI	0.090919	0.18420	N	-0.958261530937949	0.09508	0.4503149	-0.926256625695902	0.11475	0.5848349	0.994477690944138	0.33653	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.01	2.38	0.28415	0.161000	0.16298	1.757000	0.28522	0.587000	0.30956	0.000000	0.06391	0.001000	0.17328	0.075000	0.16954	0.5003:0.2839:0.0:0.2158	5.137	0.14273	903	0.23940	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	44.44	35	chr12	68326617	.	A	G	44.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=258;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.55;ReadPosRankSum=0.319;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1050:.	6	0	1	0
chr12	68326899	68326899	G	A	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001205028:exon3:c.C256T:p.P86S,MDM1:NM_001354969:exon3:c.C256T:p.P86S,MDM1:NM_001354970:exon3:c.C241T:p.P81S,MDM1:NM_017440:exon3:c.C256T:p.P86S,MDM1:NM_020128:exon3:c.C256T:p.P86S	.	436	1085	1	0	0	1	0.000460617	.	.	.	2357165	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.00746657894165	0.0002	.	0.0002	0	0	0	0	0.0003	0	0	0.0001358	21	154602	rs145037466	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0	4.472e-05	0.0026	0	0.0004	0	0.0001	0.0002	1.159e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	6.548e-05	0.0017	0	0.0002	0	0.0002	0	0	0.03	0.53900	D	0.2	0.43531	T	0.431	0.43487	B	0.11	0.36167	B	0.051773	0.22952	N	0.471427	1	0.19781	N	2.075	0.57047	M	1.78	0.25678	T	-1.92	0.68880	N	0.068	0.04072	-1.0463	0.15447	T	0.050	0.21104	T	9	0.011851221	0.00257	T	0.007467	0.19819	T	0.029	0.06676	.	.	0.101711395817	0.09552	0.2621950015386377	0.26132	0.0515022165253	0.05672	0.244799047709	0.03240	T	0.097004	0.39939	T	-0.477373	0.00766	T	-0.617513	0.11381	T	0.0361435131852636	0.03006	T	0.727827	0.35642	T	0.0338095	0.03675	0.046340365	0.06438	0.0338095	0.03674	0.046340365	0.06438	-3.74	0.20521	T	.	.	0.088	0.18164	B	.;.;.;.	.;.;.;.	0.544268	0.09130	5.912	0.6746113095010825	0.08361	0.07642	0.13650	N	AEFDBIJ	0.045419	0.07426	N	-0.572715165530515	0.19777	1.037717	-0.659442018095546	0.17978	0.9583998	0.998595058325628	0.37268	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.25	1.22	0.20300	0.033000	0.13642	1.873000	0.29400	0.676000	0.76740	0.257000	0.24919	0.999000	0.35428	0.005000	0.06747	0.2331:0.0:0.4871:0.2798	4.352	0.10597	903	0.23940	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1570.49	41	chr12	68326899	.	G	A	1570.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=324;ExcessHet=0;FS=2.374;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=1.46;SOR=0.62	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	6	0	1	0
chr12	68746582	68746582	C	G	exonic	SLC35E3	.	nonsynonymous SNV	SLC35E3:NM_001354997:exon1:c.C205G:p.P69A,SLC35E3:NM_001354998:exon1:c.C205G:p.P69A,SLC35E3:NM_018656:exon1:c.C205G:p.P69A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266	0.0501615545114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	0.10148	T	0.446	0.13103	T	0.415	0.35204	B	0.205	0.37080	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.075	0.57047	M	0.33	0.58323	T	-2.52	0.54702	D	0.784	0.78072	-0.8009	0.55092	T	0.205	0.56307	T	9	0.64637333	0.69350	D	0.050162	0.64125	D	0.266	0.57999	0.481	0.56142	0.766150250677	0.76401	0.5573545958472674	0.55662	0.20160109141	0.22562	0.590440094471	0.51556	T	0.175162	0.52465	T	0.0289394	0.55582	T	-0.196207	0.55006	T	0.836121261119843	0.49013	D	0.913609	0.69252	D	0.26206782	0.49267	0.46167323	0.68740	0.26206782	0.49267	0.46167323	0.68741	-7.426	0.57088	T	.	.	0.135	0.29255	B	.	.	3.020080	0.40419	21.2	0.80360396454377581	0.13167	0.98772	0.86654	D	AEFDGBHCI	0.813618	0.73604	D	0.162134920849173	0.49387	3.139752	0.216939521753028	0.50785	3.26714	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.98	4.98	0.65679	7.354000	0.78680	7.538000	0.60033	0.333000	0.19617	1.000000	0.71638	1.000000	0.68203	0.774000	0.36673	0.0:1.0:0.0:0.0	18.635	0.91330	883	0.28872	Sugar phosphate transporter domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	806.53	96	chr12	68746582	.	C	G	806.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.31;DP=279;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.4;ReadPosRankSum=-0.369;SOR=0.715	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	6	0	1	0
chr12	69755649	69755649	T	C	exonic	RAB3IP	.	nonsynonymous SNV	RAB3IP:NM_022456:exon2:c.T241C:p.S81P,RAB3IP:NM_175623:exon2:c.T289C:p.S97P,RAB3IP:NM_175624:exon2:c.T241C:p.S81P,RAB3IP:NM_175625:exon2:c.T289C:p.S97P	.	0	225	1	0	0	1	0.00221729	.	.	.	2365571	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.058	0.0129295976648	0.0002	.	0.0001	9.701e-05	0	0	0	0.0002	0	6.109e-05	9.7e-05	15	154602	rs141936642	7.743e-05	7.73e-05	7.36e-05	8.129e-05	0.0002	6.543e-05	6.146e-05	1.585e-05	9.31e-06	0	0	0.0029	0	0	0.0002	1.712e-05	0.0002	4.648e-05	9.198e-05	9.193e-05	0.0001	6.724e-05	0.0001	5.527e-05	4.364e-05	4.738e-05	3.052e-05	0.0001	0	0	0.0017	0	0	0	4.41e-05	0	0	0.12	0.31987	T	0.068	0.49942	T	0.001	0.07471	B	0.001	0.08700	B	0.094636	0.20163	N	0.524360	0.999951	0.52396	D	1.39	0.34934	L	0.74	0.50721	T	0.56	0.32185	N	0.15	0.22742	-1.0996	0.04140	T	0.068	0.27743	T	10	0.013831854	0.00292	T	0.01293	0.31926	T	0.058	0.16647	.	.	0.476364732183	0.47263	0.23849091991694524	0.23763	0.126400502665	0.14248	0.393505573273	0.24162	T	0.012619	0.33446	T	-0.225467	0.17253	T	-0.380116	0.35707	T	0.0166178295221942	0.00421	T	0.657134	0.26688	T	0.05155677	0.09486	0.076680526	0.17008	0.05155677	0.09486	0.076680526	0.17008	-3.19	0.12358	T	.	.	0.056	0.00949	B	.;.;.;.;.;.	.;.;.;.;.;.	0.683278	0.10520	7.231	0.98047114417067338	0.37835	0.27153	0.23197	N	AEFDBI	0.112434	0.22222	N	-0.765251693542238	0.14222	0.7067254	-0.706477335343063	0.16799	0.8903936	0.0208257388425652	0.13294	0.732398	0.92422	0	0.653731	0.59785	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.93	0.417	0.15639	0.140000	0.15877	-0.772000	0.07491	0.665000	0.62972	0.373000	0.25949	0.008000	0.19753	0.231000	0.22761	0.1113:0.0634:0.4595:0.3658	5.597	0.16615	614	0.66605	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1179.45	79	chr12	69755649	.	T	C	1179.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.64;DP=255;ExcessHet=0;FS=0.926;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=-2.059;SOR=0.929	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1101	6	0	1	0
chr12	69879248	69879248	C	T	exonic	MYRFL	.	nonsynonymous SNV	MYRFL:NM_182530:exon4:c.C259T:p.L87F	.	380	1140	2	0	0	2	0.000876424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0140827174173	.	0.000399361	0.0028	0.0018	0.0053	0	0	0.0008	0.0076	0.0038	0.0003946	61	154602	rs550598975	0.0015	0.0013	0.0014	0.0016	0.0032	0.0014	0.0014	0.0029	0.0027	0.0004	0.0011	0	0	0.0027	0.0002	0.0014	0.0016	0.0032	0.0011	0.0011	0.0009	0.0012	0.0023	0.0009	0.0009	0.0016	0.0014	0.0003	0	0.0022	0	0	0.0011	0	0.0014	0.0009	0.0023	0.006	0.61437	D	0.228	0.28210	T	.	.	.	.	.	.	.	.	.	.	0.99993	0.19486	N	.	.	.	2.19	0.18724	T	-3.38	0.66780	D	0.09	0.07125	.	.	.	.	.	.	.	0.0051528513	0.00112	T	0.014083	0.33954	T	.	.	.	.	0.229264304666	0.22521	0.058786026024556015	0.05819	.	.	.	.	.	0.003953	0.03363	T	-0.615227	0.00118	T	-0.658929	0.08340	T	.	.	.	0.511749	0.16382	T	0.08656704	0.20125	0.23701796	0.48988	0.08656704	0.20125	0.23701796	0.48987	-5.099	0.37897	T	.	.	0.068	0.08851	B	.;.	.;.	1.424292	0.18417	13.72	0.98246255901797475	0.39530	0.09871	0.15527	N	AEFDGBCI	0.095238	0.19245	N	.	.	.	.	.	.	0.999442216969767	0.39736	0.525926	0.21836	0	0.615948	0.52940	0	0.607795	0.38427	0	0.554799	0.18163	0	.	.	5.12	3.19	0.35720	0.474000	0.21858	0.473000	0.18731	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.0:0.6462:0.3538:0.0	11.385	0.49019	532	0.73501	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1278.63	35	chr12	69879248	.	C	T	1278.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.793;DP=352;ExcessHet=0;FS=3.742;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=0.825;SOR=0.414	GT:AD:DP:GQ:PL	0/0:110,0:110:99:0,120,1800	6	0	1	0
chr12	70329450	70329450	T	C	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.T266C:p.M89T,CNOT2:NM_014515:exon5:c.T266C:p.M89T,CNOT2:NM_001199302:exon6:c.T266C:p.M89T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.0131236657606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0024	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.366e-05	0	0	2.54e-05	0	0	0.0002	0.0001	5.893e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.72154	T	0.373	0.58613	T	0.089	0.25085	B	0.015	0.17295	B	0.000002	0.62929	D	0.156649	0.999987	0.54805	D	1.39	0.34934	L	0.75	0.50192	T	-1.37	0.73151	N	0.791	0.78737	-1.0546	0.13145	T	0.070	0.28609	T	10	0.3466993	0.51619	T	0.013124	0.32271	T	0.286	0.60456	0.221	0.14371	0.702063244252	0.69947	0.5511041298698888	0.55036	1.14100540041	0.78923	0.857781887054	0.90783	D	0.084111	0.37206	T	0.247529	0.78369	D	0.117782	0.78087	D	0.656853437423706	0.38758	D	0.789921	0.45805	T	0.21835071	0.44341	0.21838577	0.46539	0.21835071	0.44341	0.21838577	0.46538	-4.093	0.25187	T	.	.	0.581	0.70259	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.987872	0.58674	24.0	0.9772757362070762	0.35598	0.97687	0.76416	D	AEFBI	0.932963	0.92412	D	-0.161537160210571	0.34744	1.986992	0.0781611403978821	0.43451	2.64668	0.999999326455377	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.674000	0.83146	7.864000	0.71599	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.188	0.65156	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	478.14	38	chr12	70329450	.	T	C	478.14	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-2.137;DP=322;ExcessHet=0;FS=174.606;MLEAC=2;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.92;ReadPosRankSum=-0.391;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,26:122:99:0|1:70329448_G_A:483,0,3705:70329448	1	0	1	5
chr12	70329451	70329451	G	A	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.G267A:p.M89I,CNOT2:NM_014515:exon5:c.G267A:p.M89I,CNOT2:NM_001199302:exon6:c.G267A:p.M89I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0103649765516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.043e-07	6.894e-07	1.406e-06	0	9.311e-07	0	0	.	.	0	0	0	0	0	0	9.311e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.41364	T	0.74	0.14725	T	0.0	0.02946	B	0.0	0.01387	B	0.000002	0.62929	D	0.156649	0.999898	0.50595	D	1.735	0.44892	L	0.94	0.43672	T	-0.39	0.57599	N	0.48	0.51851	-1.0708	0.09238	T	0.062	0.25708	T	10	0.23940006	0.41079	T	0.010365	0.26807	T	0.130	0.35528	0.277	0.23004	0.369524611565	0.36568	0.44334245260416183	0.44252	1.09812664247	0.77639	0.794959783554	0.81196	T	0.070289	0.33924	T	-0.0695512	0.41400	T	-0.337682	0.40607	T	0.759007751941681	0.43794	D	0.931607	0.77964	D	0.2108132	0.43389	0.21262307	0.45739	0.2108132	0.43389	0.21262307	0.45738	-3.813	0.20999	T	.	.	0.372	0.61506	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.889866	0.56592	23.8	0.97936597058958741	0.36999	0.97640	0.76089	D	AEFBI	0.924572	0.90281	D	-0.117543626066413	0.36629	2.119811	0.139756337599154	0.46603	2.903537	0.999961322651884	0.48965	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.758000	0.84076	11.794000	0.96459	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.588	0.87887	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	470.66	36	chr12	70329451	.	G	A	470.66	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-3.128;DP=322;ExcessHet=0;FS=171.653;MLEAC=2;MLEAF=0.333;MQ=60;MQRankSum=0;QD=3.8;ReadPosRankSum=-0.363;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,26:124:99:0|1:70329448_G_A:477,0,3749:70329448	2	0	1	4
chr12	70635944	70635944	G	A	exonic	PTPRB	.	nonsynonymous SNV	PTPRB:NM_001109754:exon2:c.C178T:p.L60F,PTPRB:NM_001330204:exon2:c.C178T:p.L60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0214511850333	8e-05	.	8.491e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs372428385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-06	6.567e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.171	0.91255	T	0.141	0.47097	T	0.069	0.33860	B	0.063	0.32896	B	.	.	.	.	0.949216	0.26544	N	.	.	.	0.89	0.45636	T	-0.76	0.25770	N	0.274	0.33469	-1.0714	0.09108	T	0.085	0.33099	T	9	0.1482369	0.28075	T	0.021451	0.44220	T	0.034	0.08419	.	.	0.176862962021	0.17281	0.6354880301755313	0.63482	0.53492471946	0.50878	0.479680240154	0.36012	T	0.059314	0.33423	T	-0.220665	0.17902	T	-0.554746	0.16873	T	0.932623505592346	0.59881	D	0.69863	0.31478	T	.	.	.	.	.	.	.	.	-5.511	0.41971	T	.	.	0.473	0.64929	A	.;.;.;.	.;.;.;.	3.602507	0.50895	23.0	0.99859623691552357	0.93820	0.85685	0.44845	D	AEFDBHCI	0.862088	0.78030	D	-0.0241969775281813	0.40761	2.42629	0.155470530023144	0.47434	2.973584	0.999999999861969	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.00508	0.00061	3	.	.	6.04	5.15	0.70287	4.423000	0.59610	6.674000	0.56288	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.896000	0.43308	0.0711:0.0:0.9289:0.0	14.440	0.66887	670	0.60992	.;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	85.67	46	chr12	70635944	.	G	A	85.67	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.239;DP=394;ExcessHet=0;FS=212.332;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=0.606;SOR=8.662	GT:AD:DP:GQ:PL	0/0:78,23:109:62:0,62,1747	5	0	1	1
chr12	71524453	71524453	C	T	exonic	LGR5	.	nonsynonymous SNV	LGR5:NM_001277226:exon3:c.C332T:p.T111I,LGR5:NM_001277227:exon3:c.C332T:p.T111I,LGR5:NM_003667:exon3:c.C332T:p.T111I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.00808536765441	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868185196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.56456	D	0.022	0.60972	D	0.076	0.24253	B	0.063	0.27082	B	0.009478	0.30346	N	0.283140	0.926946	0.36850	D	0.62	0.15745	N	0.38	0.57575	T	-2.14	0.50992	N	0.385	0.44761	-0.9647	0.38270	T	0.116	0.41097	T	10	0.37278187	0.53603	T	0.008085	0.21418	T	0.172	0.43662	0.486	0.56939	0.727588342688	0.72517	0.3197490432780372	0.31887	0.101533718164	0.11486	0.509254097939	0.40118	T	0.137354	0.47024	T	-0.0216039	0.48624	T	-0.268809	0.47941	T	0.915795087814331	0.57297	D	0.424358	0.11970	T	0.15238595	0.34594	0.16741996	0.38624	0.15238595	0.34594	0.16741996	0.38624	-5.092	0.37823	T	.	.	0.121	0.36033	B	.;.;.	.;.;.	3.162562	0.42853	21.6	0.99798861509381587	0.88372	0.96072	0.67405	D	AEFDBI	0.849478	0.76630	D	-0.059293809433951	0.39187	2.306999	0.127556861968869	0.45963	2.850362	0.999973993674353	0.50053	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.41	5.41	0.78313	6.024000	0.70506	3.963000	0.40764	0.599000	0.40250	1.000000	0.71638	0.253000	0.23932	0.851000	0.40252	0.0:1.0:0.0:0.0	19.544	0.95277	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	741.44	33	chr12	71524453	.	C	T	741.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.813;DP=277;ExcessHet=0;FS=0.783;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.06;ReadPosRankSum=1.39;SOR=0.798	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr12	71699085	71699085	T	G	exonic	TMEM19	.	nonsynonymous SNV	TMEM19:NM_018279:exon5:c.T823G:p.L275V	.	429	1072	21	0	0	21	0.00969977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.0351813460054	0.0056	0.00159744	0.0052	0.0007	0.0029	0	0.0015	0.0070	0.0066	0.0065	0.0051358	794	154602	rs145012054	0.0059	0.0059	0.0059	0.0060	0.0120	0.0058	0.0058	0.0097	0.0089	0.0006	0.0030	0.0165	0	0.0020	0.0120	0.0062	0.0066	0.0076	0.0043	0.0043	0.0041	0.0044	0.0062	0.0040	0.0039	0.0057	0.0055	0.0014	0	0.0035	0.0173	0	0.0016	0.0068	0.0062	0.0061	0.0048	0.003	0.68238	D	0.046	0.49120	D	0.568	0.70673	P	0.166	0.58969	B	0.000080	0.52346	D	0.073167	0.999982	0.54805	D	2.475	0.71894	M	.	.	.	-2.77	0.58733	D	0.807	0.80278	-0.6447	0.62944	T	0.217	0.57902	T	8	0.014507443	0.00305	T	0.035181	0.56172	D	0.250	0.55888	.	.	0.107399877778	0.10242	0.9057006794600863	0.90543	0.317847215541	0.34018	0.5352191329	0.43770	T	0.270176	0.64242	T	-0.103541	0.35838	T	0.0836211	0.75820	D	0.0206278004675064	0.00762	T	0.945605	0.85339	D	0.33984637	0.56267	0.3509122	0.60694	0.33984637	0.56267	0.3509122	0.60693	-7.335	0.69883	T	.	.	0.226	0.52671	B	.;.;.	.;.;.	2.978086	0.39716	21.0	0.99333427364098725	0.59856	0.94587	0.61652	D	AEFDBHI	0.433414	0.49488	N	0.267850151330828	0.54528	3.618044	0.295395940576656	0.55271	3.690213	0.994122170462301	0.33498	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.06	3.69	0.41483	2.230000	0.42644	1.540000	0.27221	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.997000	0.79791	0.0:0.1402:0.0:0.8598	9.465	0.37971	889	0.27310	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.006793	0.000000	0.000000	0.000000	0.012195	0.003788	0.07143	1556.44	34	chr12	71699085	.	T	G	1556.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.081;DP=297;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=2.2;SOR=0.702	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1163	6	0	1	0
chr12	75050500	75050500	T	G	exonic	KCNC2	.	nonsynonymous SNV	KCNC2:NM_001260497:exon3:c.A1505C:p.Q502P,KCNC2:NM_001260498:exon3:c.A1505C:p.Q502P,KCNC2:NM_001260499:exon3:c.A1505C:p.Q502P,KCNC2:NM_139136:exon3:c.A1505C:p.Q502P,KCNC2:NM_139137:exon3:c.A1505C:p.Q502P,KCNC2:NM_153748:exon3:c.A1505C:p.Q502P	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.13166270549	7.7e-05	0.000599042	0.0006	0	0.0003	0	0.0002	0.0003	0.0011	0.0027	0.0005239	81	154602	rs201880430	0.0003	0.0003	0.0002	0.0003	0.0025	0.0003	0.0003	0.0023	0.0022	0	0.0002	0.0003	5.039e-05	7.489e-05	0.0005	0.0001	0.0005	0.0025	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	9.245e-05	0.0008	0.0006	4.817e-05	0	0.0002	0.0009	0	0	0	0.0001	0	0.0017	0.042	0.43708	D	0.075	0.43721	T	0.022	0.65571	B	0.045	0.56777	B	0.047381	0.23351	N	0.412335	0.999969	0.52935	D	1.755	0.45626	L	-4.4	0.97444	D	-2.52	0.55501	D	0.545	0.62442	0.794	0.94334	D	0.881	0.96052	D	10	0.017092079	0.00363	T	0.131663	0.81393	D	0.636	0.86078	.	.	0.827528949762	0.82590	0.724287530055627	0.72372	1.88409368239	0.92644	0.578383088112	0.49858	T	0.291554	0.66430	T	-0.0188492	0.49018	T	0.196157	0.82918	D	0.0687034698322956	0.08468	T	0.911409	0.69449	D	0.43796042	0.63270	0.4250014	0.66322	0.43796042	0.63271	0.4250014	0.66323	-8.087	0.63418	D	.	.	0.067	0.03093	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.167574	0.42947	21.6	0.98214299226666169	0.39237	0.96429	0.69096	D	AEFDI	0.911166	0.87006	D	0.0386268475719433	0.43620	2.651	0.187733779273569	0.49175	3.123806	0.625636935611295	0.21923	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.06	4.9	0.63643	5.146000	0.64688	6.520000	0.55830	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.13:0.0:0.0:0.87	12.357	0.54507	928	0.17405	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	623.46	33	chr12	75050500	.	T	G	623.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.563;DP=233;ExcessHet=0;FS=1.152;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-0.417;SOR=0.919	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr12	76059802	76059802	A	G	exonic	NAP1L1	.	nonsynonymous SNV	NAP1L1:NM_001330232:exon4:c.T236C:p.I79T,NAP1L1:NM_001307924:exon6:c.T425C:p.I142T,NAP1L1:NM_001330231:exon6:c.T425C:p.I142T,NAP1L1:NM_004537:exon6:c.T425C:p.I142T,NAP1L1:NM_139207:exon6:c.T425C:p.I142T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0140890462673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.298e-05	0.0001	1.007e-05	1.59e-05	3.167e-05	8.11e-06	6.69e-06	6.9e-06	5.32e-06	3.167e-05	0	0	0	0	0	1.237e-05	3.459e-05	2.454e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.58626	T	0.515	0.10643	T	0.741	0.42992	P	0.232	0.40572	B	0.000212	0.47681	D	0.219991	0.940363	0.81001	D	1.35	0.33515	L	1.0	0.41392	T	-1.96	0.50666	N	0.224	0.26111	-1.0717	0.09043	T	0.067	0.27708	T	10	0.21725681	0.38332	T	0.014089	0.33970	T	0.154	0.40340	0.451	0.51285	0.265735104816	0.26182	0.28783724609276506	0.28696	0.828852337507	0.67540	0.57043671608	0.48739	T	0.091695	0.38850	T	-0.0750447	0.40518	T	-0.345573	0.39712	T	0.783953189849854	0.45299	D	0.659534	0.37862	T	0.10568608	0.24989	0.1311999	0.31509	0.10568608	0.24989	0.1311999	0.31508	-8.678	0.65603	D	.	.	0.270	0.65692	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.388031	0.67691	25.1	0.9712404844935334	0.32469	0.99811	0.99622	D	AEFBI	0.923144	0.89919	D	0.0872240292922002	0.45869	2.836197	0.26620784129639	0.53577	3.525932	0.999999917027058	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.49	5.49	0.81022	9.263000	0.94779	11.266000	0.91241	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.8656:0.1344:0.0:0.0	12.985	0.57988	934	0.15400	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	244.53	35	chr12	76059802	.	A	G	244.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.081;DP=248;ExcessHet=0;FS=104.219;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.6;ReadPosRankSum=0.206;SOR=6.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:53,0:53:80:.:.:0,80,1168:.	6	0	1	0
chr12	79449113	79449113	G	A	exonic	SYT1	.	nonsynonymous SNV	SYT1:NM_001135806:exon10:c.G1258A:p.V420I,SYT1:NM_001291901:exon10:c.G1249A:p.V417I,SYT1:NM_005639:exon11:c.G1258A:p.V420I,SYT1:NM_001135805:exon12:c.G1258A:p.V420I	.	435	1078	9	0	0	9	0.00415704	.	.	.	2816726	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.034	0.0089244443933	0.0012	.	0.0032	0.0005	0.0022	0	0.0002	0.0045	0	0.0031	0.0022509	348	154602	rs61756211	0.0029	0.0029	0.0029	0.0029	0.0036	0.0028	0.0028	0.0030	0.0030	0.0004	0.0017	0.0080	2.529e-05	0.0004	0.0036	0.0031	0.0027	0.0027	0.0019	0.0019	0.0020	0.0018	0.0033	0.0017	0.0017	0.0023	0.0022	0.0003	0	0.0028	0.0086	0	0.0005	0.0068	0.0026	0.0005	0.0033	0.486	0.08091	T	0.52	0.11864	T	0.001	0.07471	B	0.001	0.04355	B	0.023158	0.26497	N	0.406771	0.870077	0.31549	N	0	0.06538	N	0.29	0.59037	T	-0.11	0.08653	N	0.088	0.07811	-1.0436	0.16236	T	0.082	0.32353	T	10	0.0042853355	0.00086	T	0.008924	0.23511	T	0.034	0.08419	.	.	0.229543500084	0.22568	0.4045132169293496	0.40367	1.13317876906	0.78688	0.301473617554	0.10620	T	0.374968	0.73866	T	-0.517315	0.00456	T	-0.5186	0.20436	T	0.000321241870974318	0.00003	T	0.60264	0.22576	T	0.06538623	0.13967	0.06013083	0.11402	0.060316067	0.12362	0.056054596	0.09946	-3.635	0.18364	T	.	.	0.067	0.02829	B	.;.;.;.	.;.;.;.	2.059928	0.26190	17.03	0.85696259719363199	0.16055	0.69285	0.34127	D	AEFDGHCI	0.127149	0.24439	N	-0.618347675941327	0.18394	0.9545726	-0.417953651527767	0.24470	1.340159	0.997690290464492	0.35915	0.706298	0.61202	0	0.573888	0.26702	0	0.779548	0.98927	0	0.613276	0.41899	0	.	.	6.01	3.2	0.35826	1.202000	0.31878	4.066000	0.41626	-0.685000	0.04181	0.820000	0.29989	1.000000	0.68203	0.972000	0.54974	0.1925:0.0:0.6899:0.1176	7.411	0.26189	912	0.21483	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.005051	0.004076	0.000000	0.000000	0.000000	0.006098	0.011364	0.07143	605.46	73	chr12	79449113	.	G	A	605.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.287;DP=257;ExcessHet=0;FS=1.99;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.29;ReadPosRankSum=1.45;SOR=0.471	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1247	6	0	1	0
chr12	80707891	80707891	G	A	exonic	MYF6	.	nonsynonymous SNV	MYF6:NM_002469:exon1:c.G172A:p.G58R	Myopathy, centronuclear, 3, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	318515	Centronuclear_Myopathy,_Dominant|Autosomal_dominant_centronuclear_myopathy|not_provided	MedGen:CN239281|MONDO:MONDO:0008048,MeSH:D020914,MedGen:C4551952,OMIM:160150,Orphanet:169189|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.359	0.102065277312	.	0.000199681	0.0001	0	0	0.0014	0	1.501e-05	0	0	9.06e-05	14	154602	rs578239628	5.13e-05	5.13e-05	4.764e-05	5.5e-05	0.0018	4.191e-05	3.823e-05	0.0015	0.0014	0	0	0	0.0018	0	0	0	1.656e-05	1.159e-05	6.566e-05	6.562e-05	7.71e-05	5.371e-05	0.0017	3.514e-05	2.615e-05	0.0009	0.0007	0	0	0	0	0.0017	0	0	0	0.0005	0	0.004	0.65419	D	0.012	0.63918	D	0.999	0.77913	D	0.923	0.65830	D	0.000001	0.84330	D	0.054246	1	0.81001	D	2.25	0.63811	M	-1.09	0.77206	T	-1.4	0.34596	N	0.633	0.64648	-0.0925	0.80270	T	0.576	0.84698	D	10	0.14231446	0.27032	T	0.102065	0.77532	D	0.359	0.67962	0.428	0.47515	0.96779336199	0.96744	0.5247655805001932	0.52400	1.18616755917	0.80146	0.824155092239	0.85665	D	0.647402	0.89258	D	-0.179839	0.23760	T	-0.044333	0.67408	D	0.288778119928347	0.24539	T	0.913509	0.69206	D	0.6260233	0.74086	0.52754796	0.72703	0.6260233	0.74087	0.52754796	0.72704	-7.585	0.58206	D	0.4758368964989992	0.55543	0.513	0.65149	A	.	.	5.789334	0.93562	33	0.99902018802007853	0.97350	0.99702	0.98799	D	AEFDBI	0.923042	0.89892	D	0.773135646703661	0.84399	8.277519	0.782543892919148	0.88554	9.625921	1.0	0.98316	0.497415	0.19182	0	0.563428	0.19063	0	0.503968	0.08637	0	0.542086	0.14980	0	.	.	5.62	5.62	0.85714	9.561000	0.97256	11.858000	0.98250	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	19.652	0.95815	871	0.31377	Myogenic basic muscle-specific protein|Myogenic basic muscle-specific protein	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr12	80707891	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1107	6	1	0	0
chr12	81268054	81268054	C	T	exonic	PPFIA2	.	nonsynonymous SNV	PPFIA2:NM_001220479:exon17:c.G1952A:p.R651H,PPFIA2:NM_001220480:exon18:c.G902A:p.R301H,PPFIA2:NM_001220477:exon25:c.G3041A:p.R1014H,PPFIA2:NM_001220478:exon25:c.G3029A:p.R1010H,PPFIA2:NM_001282536:exon26:c.G2885A:p.R962H,PPFIA2:NM_001220475:exon27:c.G3281A:p.R1094H,PPFIA2:NM_001220473:exon28:c.G3344A:p.R1115H,PPFIA2:NM_001220474:exon28:c.G3299A:p.R1100H,PPFIA2:NM_001220476:exon28:c.G3326A:p.R1109H,PPFIA2:NM_003625:exon29:c.G3344A:p.R1115H	.	441	1045	36	0	0	36	0.0169332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.536	.	0.0070	0.00399361	0.0115	0.0022	0.0058	0	0.0012	0.0140	0.0080	0.0199	0.0064423	996	154602	rs61756413	0.0086	0.0086	0.0083	0.0088	0.0137	0.0084	0.0084	0.0130	0.0128	0.0014	0.0034	0.0102	0.0001	0.0014	0.0113	0.0092	0.0083	0.0137	0.0053	0.0054	0.0055	0.0052	0.0143	0.0050	0.0049	0.0116	0.0106	0.0014	0	0.0024	0.0118	0.0002	0.0008	0.0105	0.0086	0.0053	0.0143	0.218	0.20988	T	0.291	0.20944	T	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.835	0.21042	L	-1.92	0.84773	D	-0.11	0.23372	N	0.56	0.66700	0.114	0.84433	D	0.615	0.86389	D	10	0.013827771	0.00292	T	.	.	.	0.536	0.80545	.	.	0.930576009411	0.92986	0.39334430205409027	0.39249	1.42373316533	0.85663	0.761375904083	0.76134	T	0.058123	0.30755	T	-0.111376	0.34542	T	0.0789164	0.75505	D	0.0156376510572331	0.00358	T	0.929607	0.74365	D	0.35029003	0.57090	0.29099292	0.55124	0.35029003	0.57090	0.29099292	0.55123	-7.346	0.61404	T	.	.	0.087	0.28027	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.561971	0.92146	32	0.99394218987553684	0.62474	0.97156	0.73019	D	AEFHI	0.897733	0.84025	D	0.68250432754919	0.78488	6.881378	0.715415096013723	0.83549	8.050912	0.999999999999919	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.91	5.91	0.95240	6.163000	0.71702	7.669000	0.64672	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.305	0.98622	766	0.49742	.;.;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-alpha, SAM domain repeat 3;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-alpha, SAM domain repeat 3;.;.;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-alpha, SAM domain repeat 3;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.010101	0.008152	0.005848	0.000000	0.017241	0.006098	0.034091	0.1429	33.22	33	chr12	81268054	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1176	6	1	0	0
chr12	82399261	82399261	A	G	exonic	METTL25	.	nonsynonymous SNV	METTL25:NM_001319675:exon4:c.A737G:p.N246S,METTL25:NM_032230:exon4:c.A998G:p.N333S,METTL25:NM_001347934:exon5:c.A842G:p.N281S	.	444	1076	2	0	0	2	0.000928505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00659430235805	.	.	5.791e-05	0	0	0	0	0.0001	0	0	4.53e-05	7	154602	rs756275185	6.569e-05	6.567e-05	6.808e-05	6.327e-05	0.0050	5.496e-05	5.108e-05	0.0036	0.0031	0	6.712e-05	0.0008	2.526e-05	0	0.0050	2.249e-05	0.0003	1.16e-05	2.626e-05	2.625e-05	2.57e-05	2.686e-05	2.405e-05	8.14e-06	5.14e-06	.	.	2.405e-05	0	0	0.0003	0	0	0.0068	0	0	0	0.845	0.02774	T	0.606	0.07791	T	0.002	0.09854	B	0.007	0.12992	B	0.334711	0.14057	N	0.745147	1	0.08975	N	0.49	0.13296	N	1.61	0.28391	T	-0.2	0.10136	N	0.032	0.00825	-0.9842	0.34022	T	0.036	0.15378	T	10	0.03261143	0.01416	T	0.006594	0.17386	T	0.004	0.00165	0.192	0.10304	0.0401082797425	0.02173	0.19233553522075644	0.19151	0.016213409697	0.01556	0.210784077644	0.00845	T	0.001403	0.00865	T	-0.497732	0.00589	T	-0.755763	0.03267	T	0.014251233297508	0.00282	T	0.555444	0.19245	T	0.019747352	0.00512	0.018491797	0.00057	0.019747352	0.00512	0.018491797	0.00057	-2.663	0.06998	T	.	.	0.062	0.01271	B	.	.	-0.409761	0.02176	0.214	0.36018325929729655	0.02293	0.10490	0.15983	N	AEFBCI	0.052655	0.09418	N	-1.29823263890111	0.03697	0.1656253	-1.28812215849452	0.04591	0.2168773	6.21131982046215E-5	0.04366	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.27	0.119	0.13989	0.008000	0.13095	0.218000	0.16040	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.062000	0.16114	0.5687:0.0:0.3112:0.1202	5.737	0.17339	920	0.19381	Methyltransferase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002016	0.000000	0.002717	0.008772	0.000000	0.000000	0.000000	0.000000	0.07143	968.53	35	chr12	82399261	.	A	G	968.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.232;DP=255;ExcessHet=0;FS=2.074;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=0.463;SOR=1.085	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	6	0	1	0
chr12	94279523	94279523	T	C	exonic	PLXNC1	.	nonsynonymous SNV	PLXNC1:NM_005761:exon22:c.T3649C:p.C1217R	.	394	1125	3	0	0	3	0.00133156	.	.	.	223640	not_provided|Anophthalmia-microphthalmia_syndrome	MedGen:C3661900|MedGen:C5680330,Orphanet:98555	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.245	0.025229350806	0.0007	0.000798722	0.0006	0	0.0002	0	0.0005	0.0010	0	0.0001	0.0005886	91	154602	rs146747324	0.0006	0.0006	0.0006	0.0006	0.0036	0.0006	0.0006	0.0024	0.0020	2.987e-05	0.0003	7.652e-05	2.519e-05	0.0009	0.0036	0.0007	0.0005	0.0001	0.0006	0.0006	0.0007	0.0005	0.0012	0.0005	0.0005	0.0010	0.0009	0	0	0.0006	0	0	0.0003	0.0034	0.0012	0.0005	0	0.004	0.65419	D	0.031	0.63918	D	0.998	0.73220	D	0.949	0.68658	D	0.870404	0.08829	N	0.946787	0.999998	0.81001	D	0.69	0.16971	N	3.28	0.12988	T	-3.23	0.70432	D	0.573	0.62357	-1.1098	0.03087	T	0.037	0.15770	T	10	0.02389419	0.00639	T	0.025229	0.48206	D	0.245	0.55201	.	.	0.530978576197	0.52746	0.5358477929424715	0.53509	2.50374879105	0.97662	0.787829756737	0.80112	T	0.090591	0.38617	T	-0.207145	0.19784	T	-0.076184	0.65181	T	0.0596900496040804	0.07120	T	0.738826	0.35731	T	0.63390535	0.74506	0.5183428	0.72171	0.63390535	0.74507	0.5183428	0.72172	-7.498	0.57596	T	.	.	0.194	0.41495	B	.;.	.;.	4.292164	0.65461	24.8	0.98490423892625989	0.42085	0.87965	0.47692	D	AEFBI	0.415421	0.48429	N	0.15466255010577	0.49033	3.108291	0.27149387835094	0.53881	3.555093	0.415657106028172	0.20249	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.28	5.28	0.74118	1.712000	0.37560	6.231000	0.55220	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1515:0.0:0.0:0.8485	9.920	0.40626	969	0.06854	Plexin, cytoplasmic RasGAP domain;Plexin, cytoplasmic RasGAP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	861.83	33	chr12	94279523	.	T	C	861.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.523;DP=267;ExcessHet=0;FS=3.993;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=-0.763;SOR=0.902	GT:AD:DP:GQ:PL	0/1:45,44:89:99:872,0,1105	6	0	1	0
chr12	95995835	95995835	A	G	exonic	HAL	.	nonsynonymous SNV	HAL:NM_001258334:exon2:c.T76C:p.W26R,HAL:NM_002108:exon2:c.T76C:p.W26R	.	.	.	.	.	.	.	.	.	.	.	2729657	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.861	0.206526318453	.	.	2.536e-05	0	0	0	0	3.092e-05	0	6.073e-05	1.94e-05	3	154602	rs751660582	1.508e-05	1.505e-05	9.547e-06	2.066e-05	0.0002	9.87e-06	8.43e-06	1.093e-05	8.81e-06	0	0	0	0	0	0.0002	1.709e-05	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.50132	D	0.138	0.34837	T	0.98	0.59353	D	0.602	0.50862	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.045	0.56016	M	-1.46	0.88689	T	-4.91	0.88495	D	0.89	0.88909	0.536	0.91042	D	0.706	0.89904	D	10	0.7547848	0.75901	D	0.206526	0.87044	D	0.861	0.95765	0.461	0.52916	0.961556331926	0.96114	0.8851737682835614	0.88486	0.736136313559	0.62988	0.713584125042	0.69113	T	0.290095	0.66287	T	0.329002	0.85093	D	0.342469	0.90016	D	0.930777907371521	0.59570	D	0.813919	0.47377	T	0.7575727	0.81311	0.68202174	0.81312	0.7575727	0.81312	0.68202174	0.81313	-10.262	0.77008	D	.	.	0.752	0.78521	P	.;.;.	.;.;.	4.737149	0.76355	26.5	0.99308357136408332	0.58906	0.93630	0.58745	D	AEFDBHCI	0.963326	0.98520	D	0.638805756028408	0.75647	6.342932	0.642824951471566	0.78079	6.804326	0.999999999999979	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.55458	0.18720	0	0.542086	0.14980	0	.	.	5.2	5.2	0.71720	8.867000	0.91934	11.092000	0.85948	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	1.0:0.0:0.0:0.0	15.341	0.74005	912	0.21483	Par3/HAL, N-terminal;.;Par3/HAL, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	335.45	33	chr12	95995835	.	A	G	335.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.261;DP=230;ExcessHet=0;FS=1.28;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.8;ReadPosRankSum=0.013;SOR=1.087	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1378	6	0	1	0
chr12	96297646	96297646	G	A	exonic	CDK17	.	nonsynonymous SNV	CDK17:NM_001170464:exon8:c.C791T:p.T264I,CDK17:NM_002595:exon8:c.C791T:p.T264I	.	464	1057	1	0	0	1	0.000472813	.	.	.	3649396	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.614	0.0244937232101	.	.	0.0002	0	8.637e-05	0.0002	0	0.0002	0	0.0007	0.0001682	26	154602	rs758304893	0.0001	0.0001	6.762e-05	0.0001	0.0009	8.682e-05	8.145e-05	0.0007	0.0007	3.034e-05	6.872e-05	0	0.0002	1.873e-05	0.0002	4.28e-05	0.0001	0.0009	8.536e-05	8.532e-05	7.71e-05	9.399e-05	0.0006	4.954e-05	3.96e-05	0.0002	8.996e-05	2.407e-05	0	0	0	0.0004	9.429e-05	0	7.352e-05	0.0005	0.0006	0.017	0.53172	D	0.026	0.57104	D	0.918	0.50838	P	0.767	0.56720	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.74	0.18910	N	-0.09	0.64086	T	-5.02	0.82575	D	0.706	0.70966	-0.5128	0.68184	T	0.296	0.66707	T	10	0.4922942	0.61063	T	0.024494	0.47488	T	0.614	0.84932	.	.	0.782191168402	0.78017	0.7302134402927744	0.72966	1.57472306996	0.88263	0.946036458015	0.99653	D	0.20419	0.56289	T	0.026492	0.55254	T	0.193791	0.82782	D	0.267226696014404	0.23628	T	0.958304	0.84304	D	0.5821033	0.71723	0.6062161	0.77106	0.5821033	0.71724	0.6062161	0.77107	-11.18	0.80636	D	.	.	0.592	0.73140	P	.;.;.	.;.;.	5.211558	0.87454	29.2	0.99870081389305465	0.94815	0.99855	0.99850	D	AEFDGBI	0.873031	0.79518	D	0.718014614944717	0.80813	7.378274	0.780329744060039	0.88393	9.565582	0.999999999999698	0.74766	0.706298	0.61202	0	0.696144	0.67643	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.76	5.76	0.90726	10.003000	0.99689	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.596	0.95533	768	0.49510	Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	805.46	33	chr12	96297646	.	G	A	805.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.864;DP=254;ExcessHet=0;FS=0.935;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=1.08;SOR=0.535	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	6	0	1	0
chr12	100059301	100059301	C	T	exonic	UHRF1BP1L	.	nonsynonymous SNV	UHRF1BP1L:NM_015054:exon14:c.G1976A:p.R659K	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00986710379366	0.0002	0.000599042	0.0006	0	0.0003	0	0	0.0005	0	0.0025	0.0005821	90	154602	rs200286047	0.0004	0.0004	0.0004	0.0005	0.0033	0.0004	0.0004	0.0022	0.0018	2.987e-05	0.0003	0.0011	0	0	0.0033	0.0003	0.0004	0.0020	0.0004	0.0004	0.0003	0.0005	0.0023	0.0003	0.0003	0.0013	0.0010	0.0001	0	0.0007	0	0	0	0	0.0005	0	0.0023	0.106	0.42487	T	0.369	0.41405	T	0.573	0.38659	P	0.161	0.34794	B	0.000000	0.84330	D	0.048884	0.999963	0.52935	D	1.655	0.42436	L	2.96	0.09728	T	-0.72	0.24244	N	0.649	0.68429	-1.1365	0.01495	T	0.037	0.15813	T	10	0.02142778	0.00512	T	0.009867	0.25720	T	0.115	0.32236	.	.	0.245697971988	0.24196	0.4699985069444435	0.46918	0.495410716143	0.48077	0.702900826931	0.67563	T	0.002712	0.14499	T	-0.311404	0.07625	T	-0.225634	0.52193	T	0.0300771161019923	0.02001	T	0.957804	0.86020	D	0.28262812	0.51298	0.27757528	0.53711	0.28262812	0.51298	0.27757528	0.53710	-2.702	0.07320	T	.	.	0.207	0.43311	B	.;.	.;.	3.791865	0.54583	23.5	0.99386554489727852	0.62113	0.96517	0.69535	D	AEFBI	0.711031	0.66460	D	0.349951744878321	0.58738	4.047871	0.449872392517167	0.64708	4.732342	0.999999999346557	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.563494	0.21769	0	.	.	5.56	5.56	0.83678	4.826000	0.62405	6.015000	0.52706	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.526	0.95196	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.005051	0.006793	0.000000	0.000000	0.000000	0.009146	0.000000	0.07143	973.53	58	chr12	100059301	.	C	T	973.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.93;DP=239;ExcessHet=0;FS=3.707;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.79;ReadPosRankSum=0.596;SOR=0.444	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	6	0	1	0
chr12	100380824	100380824	T	-	exonic	SLC17A8	.	frameshift deletion	SLC17A8:NM_001145288:exon2:c.225delT:p.Y76Tfs*6,SLC17A8:NM_139319:exon2:c.225delT:p.Y76Tfs*6	Deafness, autosomal dominant 25, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	43.4	35	chr12	100380823	.	GT	G	43.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.2;ReadPosRankSum=-0.366;SOR=0.446	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	6	0	1	0
chr12	100623913	100623913	C	T	exonic	GAS2L3	.	nonsynonymous SNV	GAS2L3:NM_001303130:exon9:c.C1108T:p.R370C,GAS2L3:NM_001303131:exon10:c.C796T:p.R266C,GAS2L3:NM_001363672:exon10:c.C1108T:p.R370C,GAS2L3:NM_174942:exon10:c.C1108T:p.R370C	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0193300392072	.	.	1.649e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs752944938	1.026e-05	1.026e-05	1.089e-05	9.626e-06	4.472e-05	6.16e-06	4.89e-06	7.41e-06	3.32e-06	0	4.472e-05	0	0	0	0	8.993e-06	3.311e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.41096	D	0.008	0.72224	D	0.993	0.65571	D	0.541	0.48869	P	0.074959	0.21253	N	0.444032	0.999999	0.18612	N	2.215	0.62545	M	1.72	0.26588	T	-2.68	0.60982	D	0.178	0.21580	-1.0533	0.13493	T	0.071	0.28904	T	10	0.16103396	0.30216	T	0.01933	0.41663	T	0.078	0.22779	0.401	0.43081	0.614536914106	0.61142	0.22230770974394057	0.22145	0.111227701114	0.12544	0.239456832409	0.02742	T	0.027809	0.29440	T	-0.256415	0.13323	T	-0.509245	0.21392	T	0.797606110572815	0.46191	D	0.694731	0.30434	T	0.070760354	0.15614	0.04799452	0.07034	0.070760354	0.15614	0.04799452	0.07033	-4.839	0.35042	T	.	.	0.091	0.13268	B	.;.;.;.	.;.;.;.	1.899162	0.24122	16.28	0.9880960831162241	0.46590	0.12420	0.17258	N	AEFBI	0.153811	0.27873	N	-0.345511143545329	0.27437	1.505354	-0.486608055723569	0.22521	1.223681	0.00299342495437367	0.09855	0.706548	0.73137	0	0.593476	0.48661	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.13	4.24	0.49486	1.020000	0.29629	0.534000	0.19274	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1547:0.7658:0.0:0.0795	9.02	0.35355	590	0.68897	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	5392.22	74	chr12	100623913	.	C	T	5392.22	.	AC=2;AF=0.143;AN=14;DP=592;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.99;SOR=0.788	GT:AD:DP:GQ:PL	0/0:84,0:84:99:0,120,1800	6	1	0	0
chr12	101306004	101306004	A	G	exonic	UTP20	.	nonsynonymous SNV	UTP20:NM_014503:exon16:c.A1871G:p.Q624R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.0252984563009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.17761	T	0.224	0.25591	T	0.015	0.17086	B	0.009	0.14300	B	0.000193	0.48115	D	0.216416	0.969585	0.25746	N	0.345	0.11182	N	-0.12	0.64630	T	-0.55	0.16799	N	0.134	0.13055	-1.0146	0.25464	T	0.149	0.47505	T	10	0.12690967	0.24131	T	0.025298	0.48274	D	0.107	0.30369	0.407	0.44066	0.537635407634	0.53415	0.11935451966590478	0.11862	0.126456553319	0.14255	0.285697966814	0.08299	T	0.010006	0.09071	T	-0.154024	0.27686	T	-0.459021	0.26705	T	0.380552131869813	0.28203	T	0.527447	0.17405	T	0.10589898	0.25039	0.13325287	0.31957	0.10589898	0.25039	0.13325287	0.31956	-3.556	0.17225	T	.	.	0.076	0.05935	B	.	.	3.698944	0.52748	23.3	0.90152260895149083	0.19431	0.98676	0.85452	D	AEFDGBI	0.761986	0.69953	D	-0.118093299403704	0.36606	2.118115	0.0858779520819897	0.43835	2.677276	0.999972348790339	0.50053	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	8.046000	0.89213	11.142000	0.87100	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.691000	0.33868	1.0:0.0:0.0:0.0	15.920	0.79342	823	0.40596	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.07143	636.63	33	chr12	101306004	.	A	G	636.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.458;DP=221;ExcessHet=0;FS=3.617;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=0.463;SOR=1.236	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1210	6	0	1	0
chr12	101753376	101753376	C	T	exonic	GNPTAB	.	nonsynonymous SNV	GNPTAB:NM_024312:exon19:c.G3598A:p.E1200K	Mucolipidosis II alpha/beta, Autosomal recessive;Mucolipidosis III alpha/beta, Autosomal recessive	0	1456	64	2	0	68	0.0228188	.	.	YES	78998	not_specified|not_provided|Mucolipidosis_type_II|Pseudo-Hurler_polydystrophy	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009650,MedGen:C2673377,OMIM:252500,Orphanet:576|MONDO:MONDO:0018931,MedGen:C0033788,OMIM:252600,Orphanet:423461,Orphanet:577	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.805	.	0.0005	0.00499201	0.0036	0	0.0011	0	0	0.0008	0.0055	0.0218	0.0030724	475	154602	rs137853825	0.0017	0.0017	0.0010	0.0023	0.0205	0.0016	0.0016	0.0197	0.0194	5.979e-05	0.0007	0.0010	0.0001	0	0.0092	0.0004	0.0018	0.0205	0.0010	0.0010	0.0007	0.0013	0.0180	0.0009	0.0008	0.0150	0.0138	9.623e-05	0	0.0008	0.0009	0	0	0	0.0007	0.0009	0.0180	0.027	0.46513	D	0.033	0.53072	D	0.819	0.45682	P	0.334	0.42203	B	0.000000	0.84330	D	0.050530	0.999999	0.58761	D	1.845	0.48678	L	-1.61	0.82254	D	-2.53	0.54864	D	0.786	0.78262	-0.0193	0.81853	T	0.485	0.80360	T	10	0.012164891	0.00262	T	.	.	.	0.805	0.93660	.	.	0.870031030802	0.86877	0.8155700713887672	0.81513	0.69644798922	0.60850	0.823489546776	0.85563	D	0.351569	0.71912	T	0.051382	0.58522	T	0.31795	0.89004	D	0.0724241623569362	0.08987	T	0.967703	0.88280	D	0.46982327	0.65279	0.314839	0.57473	0.4536473	0.64273	0.30533698	0.56560	-10.697	0.77970	D	0.7684051407325552	0.84961	0.378	0.58292	A	.	.	4.127183	0.61730	24.4	0.99816031481847278	0.89973	0.97083	0.72590	D	AEFBI	0.794909	0.72248	D	0.439006028940395	0.63583	4.594733	0.485958886029561	0.67058	5.033571	0.991746587260844	0.32594	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.69	4.8	0.61157	7.565000	0.81337	7.588000	0.61163	0.541000	0.25215	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.9303:0.0:0.0697	14.759	0.69210	470	0.78111	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006546	0.000000	0.004076	0.011696	0.000000	0.000000	0.000000	0.026515	0.1429	1976.27	34	chr12	101753376	.	C	T	1976.27	.	AC=2;AF=0.143;AN=14;DP=258;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.4;SOR=1.758	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1143	6	1	0	0
chr12	101753387	101753387	T	C	exonic	GNPTAB	.	nonsynonymous SNV	GNPTAB:NM_024312:exon19:c.A3587G:p.H1196R	Mucolipidosis II alpha/beta, Autosomal recessive;Mucolipidosis III alpha/beta, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1489811	Mucolipidosis_type_II|Pseudo-Hurler_polydystrophy	MONDO:MONDO:0009650,MedGen:C2673377,OMIM:252500,Orphanet:576|MONDO:MONDO:0018931,MedGen:C0033788,OMIM:252600,Orphanet:423461,Orphanet:577	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.210	0.0241242773709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.158e-06	6.156e-06	2.723e-06	9.627e-06	0.0005	2.9e-06	2.1e-06	0.0001	7.544e-05	0	2.236e-05	0	2.52e-05	0	0.0005	2.699e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.15984	T	0.433	0.13595	T	0.003	0.11197	B	0.002	0.06944	B	0.003934	0.34318	N	0.347225	0.856723	0.35316	D	0.805	0.20218	L	-1.49	0.81235	T	-2.57	0.55501	D	0.384	0.42541	-0.7153	0.59693	T	0.277	0.64926	T	10	0.20799753	0.37115	T	0.024124	0.47114	T	0.210	0.50028	0.399	0.42753	0.675068926283	0.67231	0.6513982571323699	0.65075	0.272347824251	0.29747	0.756527245045	0.75412	T	0.289866	0.66264	T	-0.0383294	0.46196	T	-0.292834	0.45476	T	0.496631920337677	0.32506	T	0.846115	0.52582	T	0.16689205	0.37053	0.16420493	0.38051	0.16689205	0.37052	0.16420493	0.38050	-1.061	0.01069	T	0.21357290697155049	0.28680	0.081	0.08129	B	.	.	2.122969	0.27023	17.32	0.95747936040039494	0.27715	0.91397	0.53451	D	AEFBI	0.271439	0.38729	N	-0.252847470206892	0.30990	1.733308	-0.0456896030177927	0.37678	2.209327	0.0169472474569439	0.12893	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.69	4.55	0.55429	3.155000	0.50398	2.860000	0.35197	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.0:0.0707:0.0:0.9293	11.387	0.49030	470	0.78111	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1337.46	34	chr12	101753387	.	T	C	1337.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.548;DP=319;ExcessHet=0;FS=0.691;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=1.03;SOR=0.601	GT:AD:DP:GQ:PL	0/1:56,62:118:99:1348,0,1215	6	0	1	0
chr12	103706793	103706793	C	T	exonic	STAB2	.	nonsynonymous SNV	STAB2:NM_017564:exon38:c.C3998T:p.T1333M	.	.	.	.	.	.	.	.	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.015985346587	7.7e-05	0.000199681	0.0002	0.0002	0.0002	0	0.0002	0.0001	0	0.0003	0.0001488	23	154602	rs151019558	7.867e-05	8.003e-05	6.67e-05	9.075e-05	0.0003	6.666e-05	6.201e-05	0.0002	0.0002	0.0002	4.472e-05	0	2.519e-05	1.872e-05	0.0003	5.845e-05	0.0001	0.0003	0.0001	0.0002	0.0002	0.0001	0.0002	9.734e-05	8.25e-05	0.0001	9.897e-05	0.0002	0	6.533e-05	0	0	0	0	0.0002	0	0	0.085	0.32769	T	0.002	0.79402	D	0.959	0.55135	D	0.307	0.41295	B	0.000222	0.47286	D	0.187358	0.979884	0.25151	N	2.36	0.67893	M	4.01	0.03208	T	-2.11	0.48020	N	0.18	0.19459	-0.9975	0.30618	T	0.014	0.05561	T	10	0.15544361	0.29297	T	0.015985	0.37021	T	0.065	0.18881	.	.	0.546393912413	0.54293	0.4320883638807469	0.43125	0.147127309729	0.16595	0.357841640711	0.19071	T	0.18681	0.54022	T	-0.481828	0.00721	T	-0.61937	0.11234	T	0.0829318091273308	0.10358	T	0.710029	0.32075	T	0.03623698	0.04418	0.07082028	0.15094	0.03623698	0.04418	0.07082028	0.15093	-6.344	0.49071	T	.	.	0.106	0.19679	B	.	.	1.304458	0.17066	12.94	0.93773942442712377	0.23728	0.20382	0.21020	N	AEFDBI	0.228952	0.35255	N	-0.308243018717389	0.28835	1.593761	-0.396271931100081	0.25108	1.378836	4.50152031585922E-4	0.07004	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.69	3.69	0.41483	0.322000	0.19323	1.086000	0.23936	-0.172000	0.11096	0.031000	0.20493	0.507000	0.25236	0.304000	0.24594	0.1208:0.7379:0.0:0.1413	8.659	0.33241	865	0.32612	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1405.49	34	chr12	103706793	.	C	T	1405.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.4;DP=290;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.431;SOR=0.65	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1255	6	0	1	0
chr12	103733065	103733077	GCCCACCGACCAA	-	exonic	STAB2	.	frameshift deletion	STAB2:NM_017564:exon51:c.5343_5355del:p.T1783Sfs*21	.	11	1507	3	1	0	5	0.00165618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1326855022	2.736e-06	2.736e-06	2.722e-06	2.75e-06	1.799e-06	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	64.4	34	chr12	103733064	.	GGCCCACCGACCAA	G	64.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-1.383;SOR=0.368	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1242	6	0	1	0
chr12	103746704	103746704	G	A	exonic	STAB2	.	nonsynonymous SNV	STAB2:NM_017564:exon58:c.G6244A:p.V2082I	.	.	.	.	.	.	.	.	0.9998	0.926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.197	0.27855	T	0.409	0.35027	B	0.156	0.34472	B	0.194073	0.16770	N	0.555420	0.999989	0.54805	D	2.56	0.74772	M	-2.24	0.87194	D	-0.89	0.24026	N	0.317	0.35727	0.118	0.84508	D	0.626	0.86858	D	10	0.3218444	0.49542	T	0.074131	0.71964	D	0.394	0.70924	0.375	0.38830	0.753618003907	0.75138	0.26239603109973303	0.26152	0.121059964372	0.13639	0.3819668293	0.22536	T	0.283413	0.65617	T	0.042709	0.57399	T	-0.176428	0.56852	T	0.938403129577637	0.60899	D	0.884312	0.60710	D	0.14118905	0.32544	0.14891663	0.35183	0.14118905	0.32544	0.14891663	0.35182	-8.072	0.61560	D	.	.	0.099	0.16494	B	.	.	5.288226	0.88792	29.7	0.99811860064909097	0.89531	0.99522	0.97031	D	AEFBI	0.944511	0.95169	D	0.327242868043115	0.57550	3.922829	0.425616818172914	0.63165	4.545006	0.999999992392754	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.491513	0.07944	0	0.613276	0.41899	0	.	.	5.43	5.43	0.79006	9.197000	0.94121	9.876000	0.82163	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.727000	0.35000	0.0:0.0:1.0:0.0	19.232	0.93829	885	0.28214	EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1428.45	34	chr12	103746704	.	G	A	1428.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.265;DP=288;ExcessHet=0;FS=4.914;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.206;SOR=1.202	GT:AD:DP:GQ:PL	0/1:49,58:107:99:1439,0,1206	6	0	1	0
chr12	103985729	103985729	-	AGAGCGTGGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCC	splicing	TDG	NM_001363612:exon8:c.661+1->AGAGCGTGGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCC;NM_003211:exon9:c.1090+1->AGAGCGTGGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0.0002	0.0002	0	0.0001	0	0.0001	3.84e-05	1	26028	.	1.273e-05	9.077e-06	1.11e-05	1.443e-05	0.0002	5.99e-06	4.34e-06	6.176e-05	3.281e-05	0.0002	0	8.9e-05	0	3.778e-05	0	3.552e-06	3.571e-05	3.391e-05	0	1.22e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	383.03	43	chr12	103985729	.	G	GAGAGCGTGGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCC	383.03	.	AC=1;AF=0.1;AN=10;BaseQRankSum=3.9;DP=382;ExcessHet=0.3476;FS=10.825;MLEAC=1;MLEAF=0.1;MQ=58.04;MQRankSum=-4.601;QD=3.61;ReadPosRankSum=-2.967;SOR=2.261	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:53,0:58:50:0|1:103985728_A_ATT:50,210,2396:103985728	4	0	1	2
chr12	103985730	103985730	-	GGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCCTA	splicing	TDG	NM_001363612:exon8:c.661+2->GGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCCTA;NM_003211:exon9:c.1090+2->GGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCCTA	.	.	.	0	196	14	0	16	30	0.0344828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0007	0.0004	0.0002	0	0.0002	0.0011	0.0004	3.84e-05	1	26028	rs749286024	7.58e-05	8.345e-05	8.224e-05	6.928e-05	0.0007	6.429e-05	5.982e-05	0.0005	0.0004	6.026e-05	0.0007	7.714e-05	0.0003	5.659e-05	0	3.166e-05	8.344e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	523.59	45	chr12	103985730	.	T	TGGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCCTA	523.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.68;DP=384;ExcessHet=0.3476;FS=11.316;MLEAC=1;MLEAF=0.071;MQ=57.38;MQRankSum=-4.969;QD=3.97;ReadPosRankSum=-2.552;SOR=2.118	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:57,0:57:99:.:.:0,120,1800:.	6	0	1	0
chr12	104067989	104067989	C	T	exonic	HCFC2	.	nonsynonymous SNV	HCFC2:NM_013320:exon3:c.C355T:p.P119S	.	434	1033	51	4	0	59	0.0277647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	0.0019	0.0217652	0.0118	0.0028	0.0015	0.0003	0.0002	0.0020	0.0154	0.0748	0.0103815	1605	154602	rs150909028	0.0055	0.0055	0.0036	0.0074	0.0716	0.0054	0.0053	0.0701	0.0695	0.0022	0.0017	0.0155	0.0002	9.373e-05	0.0138	0.0007	0.0079	0.0716	0.0041	0.0041	0.0031	0.0052	0.0738	0.0039	0.0038	0.0675	0.0650	0.0027	0	0.0012	0.0164	0.0015	9.457e-05	0	0.0010	0.0043	0.0738	0.762	0.06441	T	0.509	0.19188	T	0.0	0.02946	B	0.0	0.01387	B	0.017630	0.27675	N	0.465207	0.994542	0.23495	N	-0.2	0.04182	N	-0.73	0.73100	T	1.14	0.01488	N	0.079	0.05414	-1.0032	0.28992	T	0.097	0.36341	T	10	0.0012520552	0.00014	T	.	.	.	0.082	0.23913	.	.	.	.	0.2593041446709966	0.25844	0.812225268878	0.66784	0.273396193981	0.06588	T	0.025239	0.18911	T	-0.471885	0.00827	T	-0.395535	0.33905	T	0.000383467336503744	0.00003	T	0.70043	0.31009	T	0.028307982	0.02149	0.032848753	0.02084	0.028307982	0.02149	0.032848753	0.02084	-3.569	0.17410	T	.	.	0.060	0.02993	B	.;.	.;.	0.605430	0.09738	6.507	0.72821341790466698	0.10107	0.05369	0.11230	N	AEFBI	0.031441	0.03364	N	-1.11600442923523	0.06358	0.2924515	-0.96389539465514	0.10602	0.5350199	0.989493607714454	0.31844	0.651	0.46895	0	0.708844	0.79440	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.64	-0.9	0.10008	0.467000	0.21747	0.047000	0.13948	-0.167000	0.11441	0.035000	0.20724	0.005000	0.19230	0.974000	0.55675	0.0:0.2705:0.1259:0.6036	5.946	0.18456	819	0.41190	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014602	0.000000	0.008152	0.005848	0.000000	0.008621	0.018293	0.041667	0.07143	1284.63	34	chr12	104067989	.	C	T	1284.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.706;DP=300;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-1.462;SOR=0.743	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1079	6	0	1	0
chr12	105052102	105052102	C	A	exonic	ALDH1L2	.	nonsynonymous SNV	ALDH1L2:NM_001034173:exon12:c.G1523T:p.R508I	.	448	1073	1	0	0	1	0.000465766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.108241573402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.883e-07	6.841e-07	0	1.384e-06	1.187e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.187e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.038	0.51421	D	0.222	0.30359	B	0.065	0.27321	B	0.000001	0.84330	D	0.092726	0.884119	0.35812	D	2.57	0.75187	M	-1.14	0.77843	T	-3.67	0.70191	D	0.43	0.46928	-0.2425	0.76561	T	0.404	0.75423	T	10	0.29903942	0.47458	T	0.108242	0.78469	D	0.298	0.61843	0.589	0.71749	0.625633723092	0.62258	0.629813400004236	0.62915	0.334820898017	0.35496	0.460889607668	0.33433	T	0.505193	0.82394	D	0.0339337	0.56245	T	-0.189033	0.55681	T	0.963299572467804	0.66617	D	0.937406	0.76468	D	0.3812371	0.59406	0.32568645	0.58482	0.3812371	0.59406	0.32568645	0.58481	-9.303	0.69626	D	.	.	0.161	0.35498	B	.	.	3.963140	0.58142	23.9	0.95363347717897651	0.26765	0.70968	0.34812	D	AEFDBI	0.273745	0.38908	N	-0.482277563559948	0.22662	1.211623	-0.510014006831223	0.21881	1.185811	0.987461163933397	0.31271	0.653281	0.48532	0	0.659037	0.61890	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.57	3.76	0.42368	2.347000	0.43692	2.132000	0.30787	0.599000	0.40250	0.390000	0.26087	0.483000	0.25112	0.994000	0.71098	0.1317:0.8006:0.0:0.0678	10.768	0.45505	926	0.17793	Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	273.63	26	chr12	105052102	.	C	A	273.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.241;DP=191;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=-1.867;SOR=0.963	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,935	6	0	1	0
chr12	105126095	105126095	G	A	exonic	WASHC4	.	nonsynonymous SNV	WASHC4:NM_001293640:exon11:c.G878A:p.R293Q,WASHC4:NM_015275:exon11:c.G878A:p.R293Q	.	439	1078	5	0	0	5	0.00231374	.	.	.	226930	not_provided|WASHC4-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.246	0.0195611185927	0.0014	0.00119808	0.0018	0.0001	0.0030	0	0	0.0026	0.0023	0.0002	0.0017658	273	154602	rs35267264	0.0017	0.0017	0.0017	0.0018	0.0038	0.0017	0.0017	0.0026	0.0022	0.0003	0.0024	0	0	0.0001	0.0038	0.0021	0.0014	0.0003	0.0014	0.0015	0.0016	0.0013	0.0026	0.0013	0.0012	0.0023	0.0022	0.0003	0	0.0017	0	0	0	0	0.0026	0.0009	0	0.066	0.36113	T	0.062	0.45318	T	0.993	0.65571	D	0.77	0.56828	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.36	0.34452	T	-1.6	0.38540	N	0.865	0.86191	-0.8796	0.49793	T	0.189	0.54049	T	10	0.055656135	0.06118	T	0.019561	0.41954	T	0.246	0.55340	.	.	0.649541849935	0.64662	0.6092801954649615	0.60860	0.721910596354	0.62253	0.572447240353	0.49024	T	0.030568	0.30764	T	-0.136116	0.30510	T	0.0286514	0.72191	D	0.0493454970419407	0.05384	T	0.963804	0.86607	D	0.25921568	0.48974	0.26098907	0.51871	0.24895392	0.47886	0.2349598	0.48726	-3.378	0.14762	T	0.2869922312430179	0.38310	0.212	0.47382	B	.;.	.;.	4.705053	0.75534	26.3	0.9995048659989606	0.99938	0.99260	0.93590	D	AEFGBI	0.860511	0.77838	D	0.72227418753605	0.81093	7.442052	0.733636679200362	0.84931	8.431703	0.999999999999306	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.711	0.71501	0	.	.	5.56	5.56	0.83678	8.146000	0.89551	11.836000	0.97677	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.518	0.95164	851	0.35303	WASH complex subunit 7, N-terminal;WASH complex subunit 7, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003030	0.000000	0.004076	0.000000	0.000000	0.000000	0.006135	0.003788	0.1429	209.21	35	chr12	105126095	.	G	A	209.21	.	AC=2;AF=0.143;AN=14;DP=212;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=26.15;SOR=1.179	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1053	6	1	0	0
chr12	107741033	107741033	T	C	exonic	PRDM4	.	nonsynonymous SNV	PRDM4:NM_012406:exon10:c.A1837G:p.M613V	.	424	1096	2	0	0	2	0.000911577	.	.	.	2761254	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.0056716211778	7.7e-05	.	2.471e-05	0	0	0	0	4.495e-05	0	0	3.23e-05	5	154602	rs138588917	4.104e-05	4.104e-05	4.084e-05	4.125e-05	4.856e-05	3.244e-05	2.919e-05	3.804e-05	3.407e-05	2.987e-05	2.236e-05	0	0	0	0	4.856e-05	4.967e-05	1.159e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.053	0.38863	T	0.323	0.18959	T	0.012	0.16265	B	0.002	0.06944	B	0.000000	0.84330	D	0.115537	0.999579	0.47641	D	0.33	0.10399	N	1.69	0.27032	T	-0.14	0.09135	N	0.149	0.15187	-1.0606	0.11607	T	0.033	0.14203	T	10	0.083269775	0.13833	T	0.005672	0.14681	T	0.094	0.27141	.	.	0.110392049598	0.10638	0.4562366990742257	0.45541	0.605572307548	0.55437	0.735593259335	0.72324	T	0.029343	0.21048	T	-0.29069	0.09567	T	-0.498967	0.22455	T	0.102208433760941	0.12599	T	0.854615	0.54143	D	0.23892522	0.46777	0.20796868	0.45079	0.23892522	0.46777	0.20796868	0.45078	-5.363	0.40562	T	.	.	0.188	0.40586	B	.	.	2.841523	0.37494	20.5	0.95803241782393933	0.27862	0.95524	0.65064	D	AEFBI	0.426191	0.49065	N	-0.10621612776745	0.37122	2.155205	0.167456499126228	0.48075	3.028376	0.995408735466588	0.34108	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	5.745000	0.68308	7.947000	0.75742	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.558	0.84362	872	0.31118	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	1468.44	101	chr12	107741033	.	T	C	1468.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.128;DP=278;ExcessHet=0;FS=1.658;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=-1.197;SOR=0.86	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1089	6	0	1	0
chr12	108623376	108623376	G	C	exonic	SELPLG	.	nonsynonymous SNV	SELPLG:NM_001206609:exon2:c.C980G:p.A327G,SELPLG:NM_003006:exon2:c.C932G:p.A311G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00701323914154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.17584	T	0.264	0.24477	T	0.05	0.22331	B	0.013	0.16460	B	0.064347	0.02177	N	2.301250	1	0.08975	N	0.69	0.16971	N	2.46	0.14907	T	-0.65	0.18877	N	0.048	0.10626	-1.0436	0.16236	T	0.024	0.10239	T	10	0.060468763	0.07432	T	0.007013	0.18567	T	0.034	0.08419	0.472	0.54699	0.19670166235	0.19296	0.09162283736576306	0.09095	0.129233089581	0.14574	0.226878359914	0.01745	T	0.051675	0.28946	T	-0.351293	0.04646	T	-0.742385	0.03791	T	0.12165205925703	0.14590	T	0.391261	0.09725	T	0.021074304	0.00691	0.02488705	0.00517	0.021074304	0.00691	0.02488705	0.00516	-4.084	0.25775	T	.	.	0.100	0.19839	B	.;.;.	.;.;.	0.002451	0.04298	1.081	0.57049922942324249	0.05684	0.07399	0.13418	N	AEFDBCI	0.087670	0.17775	N	-1.25356337204289	0.04252	0.1915821	-1.38691386944095	0.03391	0.1580601	0.999991463382731	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635259	0.50027	0	.	.	3.47	-5.51	0.02366	-0.315000	0.08122	0.937000	0.22823	0.676000	0.76740	0.000000	0.06391	0.012000	0.20211	0.016000	0.10718	0.2824:0.191:0.43:0.0966	2.269	0.03835	853	0.34956	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1061.53	38	chr12	108623376	.	G	C	1061.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.68;DP=271;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-0.711;SOR=0.65	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1084	6	0	1	0
chr12	109176233	109176233	T	A	exonic	ACACB	.	nonsynonymous SNV	ACACB:NM_001093:exon9:c.T1407A:p.S469R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.0484632866501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.502	0.07695	T	0.404	0.14818	T	0.003	0.11197	B	0.014	0.16862	B	0.001736	0.38161	N	0.331298	0.96917	0.25767	N	0.96	0.23930	L	-4.78	0.98140	D	-2.56	0.55339	D	0.296	0.33469	0.106	0.84276	D	0.778	0.92453	D	10	0.116025835	0.21875	T	0.048463	0.63385	D	0.228	0.52768	0.424	0.46857	0.170165803431	0.16609	0.6851918386349842	0.68458	0.269621044273	0.29486	0.443333595991	0.31032	T	0.828363	0.95876	D	0.00680399	0.52588	T	-0.228003	0.51965	T	0.326452404260635	0.26081	T	0.816118	0.47137	T	0.37081146	0.58645	0.14571951	0.34550	0.37081146	0.58645	0.14571951	0.34549	-5.042	0.37293	T	.	.	0.21	0.44527	B	.;.	.;.	0.172965	0.05618	2.069	0.92973669925506719	0.22553	0.08540	0.14455	N	AEFDI	0.095542	0.19303	N	-1.2508335376001	0.04289	0.1932731	-1.26335707068112	0.04936	0.2340348	0.0262709471279253	0.13701	0.646311	0.45356	0	0.626922	0.53725	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	5.91	-5.44	0.02419	-0.940000	0.04039	-9.680000	0.00790	-0.133000	0.13014	0.004000	0.16614	0.000000	0.08366	0.991000	0.66497	0.1431:0.5181:0.0849:0.2539	6.723	0.22527	606	0.67383	Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain|ATP-grasp fold|Biotin carboxylation domain;Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain|ATP-grasp fold|Biotin carboxylation domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	291.49	34	chr12	109176233	.	T	A	291.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.26;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=-0.585;SOR=0.573	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1037	6	0	1	0
chr12	109246234	109246234	G	A	exonic	ACACB	.	nonsynonymous SNV	ACACB:NM_001093:exon39:c.G5357A:p.R1786Q	.	423	1085	14	0	0	14	0.00641026	.	.	.	713318	ACACB-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.855	0.22667478314	0.0048	0.00279553	0.0046	0.0015	0.0016	0.0002	0.0018	0.0061	0.0011	0.0065	0.004586	709	154602	rs144673785	0.0062	0.0062	0.0063	0.0062	0.0071	0.0061	0.0061	0.0070	0.0069	0.0014	0.0012	0.0028	0	0.0014	0.0033	0.0071	0.0051	0.0071	0.0044	0.0044	0.0045	0.0043	0.0073	0.0041	0.0040	0.0061	0.0059	0.0016	0.0482	0.0023	0.0046	0.0004	0.0018	0.0068	0.0066	0.0033	0.0073	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.62929	D	0.058289	0.999999	0.81001	D	3.58	0.93551	H	-4.65	0.97938	D	-3.74	0.71042	D	0.973	0.98368	0.903	0.95720	D	0.958	0.98646	D	10	0.098863095	0.17904	T	0.226675	0.88055	D	0.855	0.95544	.	.	0.788827947797	0.78687	0.9634623608571236	0.96333	0.94141016562	0.72219	0.482595443726	0.36414	T	0.96615	0.99597	D	0.233261	0.77027	D	0.573963	0.96277	D	0.0615756208961317	0.07414	T	0.996	0.98873	D	0.78223073	0.82791	0.5406479	0.73452	0.78223073	0.82793	0.5406479	0.73453	-11.021	0.79774	D	.	.	0.419	0.67259	A	.;.;.	.;.;.	4.654274	0.74218	26.1	0.99938655837885371	0.99698	0.98739	0.86233	D	AEFBI	0.950762	0.96471	D	0.770890160005408	0.84256	8.237651	0.612763216402882	0.75866	6.386948	0.997955428755747	0.36237	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.24	4.34	0.51267	9.990000	0.99219	11.788000	0.96293	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.086000	0.17578	0.0:0.0:0.8608:0.1392	15.540	0.75769	694	0.58444	Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, N-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, N-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.018939	0.07143	1149.53	33	chr12	109246234	.	G	A	1149.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.04;DP=291;ExcessHet=0;FS=1.569;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=-1.226;SOR=0.919	GT:AD:DP:GQ:PL	0/1:69,49:118:99:1160,0,1509	6	0	1	0
chr12	109256176	109256176	A	G	exonic	ACACB	.	nonsynonymous SNV	ACACB:NM_001093:exon45:c.A6203G:p.H2068R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.0102063883961	.	.	1.657e-05	0	0	0	0	1.508e-05	0	6.066e-05	1.29e-05	2	154602	rs774849156	6.841e-06	6.84e-06	1.361e-06	1.238e-05	0.0002	3.46e-06	2.52e-06	9.24e-06	4.56e-06	0	2.236e-05	0	0	0	0.0002	3.597e-06	1.656e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.446	0.09101	T	0.515	0.10643	T	0.144	0.27697	B	0.054	0.25828	B	0.004277	0.33923	N	0.347798	0.999524	0.54805	D	-0.65	0.02095	N	1.65	0.27650	T	-2.06	0.47175	N	0.127	0.14763	-1.0058	0.28216	T	0.023	0.09832	T	10	0.11056355	0.20671	T	0.010206	0.26478	T	0.131	0.35738	0.527	0.63263	0.203808441222	0.19973	0.6473109039353844	0.64666	0.290772835232	0.31486	0.385244041681	0.22998	T	0.644877	0.89153	D	-0.325674	0.06445	T	-0.524057	0.19885	T	0.225040450692177	0.21713	T	0.769523	0.39899	T	0.29071024	0.52058	0.13762602	0.32891	0.29071024	0.52058	0.13762602	0.32890	-5.874	0.45212	T	.	.	0.066	0.02257	B	.;.;.	.;.;.	3.055360	0.41009	21.3	0.93241904360200956	0.22927	0.97778	0.77065	D	AEFBI	0.758212	0.69693	D	-0.372409212478549	0.26456	1.44403	-0.096357928542728	0.35541	2.057392	0.999953591270395	0.48110	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.09	5.09	0.68647	5.333000	0.65692	6.097000	0.53509	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	1.0:0.0:0.0:0.0	14.832	0.69784	705	0.57330	Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, C-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, C-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2458.45	33	chr12	109256176	.	A	G	2458.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.38;DP=317;ExcessHet=0;FS=0.649;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.48;ReadPosRankSum=0.016;SOR=0.806	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,108,1620:.	6	0	1	0
chr12	109516838	109516838	C	G	exonic	UBE3B	.	nonsynonymous SNV	UBE3B:NM_130466:exon19:c.C2030G:p.S677C,UBE3B:NM_183415:exon19:c.C2030G:p.S677C	Kaufman oculocerebrofacial syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0357073851034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.72154	D	0.023	0.63109	D	0.997	0.70673	D	0.922	0.65739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.175	0.60977	M	0.93	0.44065	T	-2.39	0.54217	N	0.843	0.83885	-0.5619	0.66331	T	0.271	0.64266	T	10	0.6241582	0.68146	D	0.035707	0.56521	D	0.206	0.49396	0.399	0.42753	0.776800935306	0.77474	0.48502588665287377	0.48422	0.754756156062	0.63957	0.702926635742	0.67567	T	0.510976	0.82710	D	0.109413	0.65291	D	-0.0806124	0.64859	T	0.975470781326294	0.70951	D	0.927007	0.73102	D	0.30571008	0.53412	0.16553605	0.38290	0.30571008	0.53412	0.16553605	0.38289	-6.6	0.51053	T	0.30700863558375696	0.40472	0.133	0.31658	B	.;.;.	.;.;.	4.740934	0.76452	26.5	0.99239521899448668	0.56501	0.98926	0.88723	D	AEFBI	0.878679	0.80410	D	0.787035019812245	0.85286	8.531427	0.778480657736234	0.88259	9.515927	0.999999999999973	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.33	5.33	0.75683	7.345000	0.78576	5.956000	0.51737	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	18.190	0.89737	715	0.56137	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1669.63	34	chr12	109516838	.	C	G	1669.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.34;DP=292;ExcessHet=0;FS=0.729;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=-0.754;SOR=0.813	GT:AD:DP:GQ:PL	0/1:43,70:113:99:1680,0,943	6	0	1	0
chr12	109792687	109792687	T	C	exonic	TRPV4	.	nonsynonymous SNV	TRPV4:NM_001177433:exon8:c.A1468G:p.K490E,TRPV4:NM_001177428:exon9:c.A1648G:p.K550E,TRPV4:NM_147204:exon9:c.A1609G:p.K537E,TRPV4:NM_001177431:exon11:c.A1687G:p.K563E,TRPV4:NM_021625:exon11:c.A1789G:p.K597E	Brachyolmia type 3, Autosomal dominant;Digital arthropathy-brachydactyly, familial, Autosomal dominant;Hereditary motor and sensory neuropathy, type IIc, Autosomal dominant;Metatropic dysplasia, Autosomal dominant;Parastremmatic dwarfism, Autosomal dominant;SED, Maroteaux type, Autosomal dominant;Scapuloperoneal spinal muscular atrophy, Autosomal dominant;Spinal muscular atrophy, distal, congenital nonprogressive, Autosomal dominant;Spondylometaphyseal dysplasia, Kozlowski type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.697	0.119774967049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.45039	D	0.049	0.49120	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.8	0.47472	L	-4.78	0.98140	D	-0.8	0.22078	N	0.396	0.53269	1.074	0.98704	D	0.951	0.98406	D	10	0.39938003	0.55458	T	0.119775	0.80016	D	0.697	0.89053	0.563	0.68364	0.976651661176	0.97640	0.8688079128804699	0.86845	2.36727214104	0.96895	0.899913549423	0.96431	D	0.709514	0.91703	D	0.490426	0.94023	D	0.466687	0.93946	D	0.772086676853268	0.44565	D	0.886311	0.75689	D	0.20362163	0.42446	0.27383092	0.53305	0.20362163	0.42446	0.27383092	0.53304	-8.928	0.68434	D	0.437284568090141	0.52340	0.822	0.79091	P	.;.;.;.;.;.	.;.;.;.;.;.	4.793038	0.77804	26.8	0.99912490448530544	0.98167	0.95178	0.63725	D	AEFDBI	0.712568	0.66565	D	0.493220294575226	0.66693	4.983205	0.559907861603	0.72091	5.755287	0.999995616285241	0.74766	0.706548	0.73137	0	0.563428	0.19063	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	6.06	6.06	0.98340	5.090000	0.64332	5.017000	0.46715	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	15.794	0.78166	708	0.56926	Ion transport domain;Ion transport domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	37	chr12	109792687	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1214	6	1	0	0
chr12	109953190	109953190	C	T	exonic	GIT2	.	nonsynonymous SNV	GIT2:NM_001135214:exon13:c.G1144A:p.V382I,GIT2:NM_001330153:exon13:c.G1141A:p.V381I,GIT2:NM_001330154:exon13:c.G1144A:p.V382I,GIT2:NM_014776:exon13:c.G1144A:p.V382I,GIT2:NM_057169:exon13:c.G1144A:p.V382I,GIT2:NM_057170:exon13:c.G1144A:p.V382I,GIT2:NM_139201:exon13:c.G1144A:p.V382I,GIT2:NM_001135213:exon14:c.G1150A:p.V384I	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0123487716673	.	0.000998403	0.0007	9.612e-05	8.637e-05	0	0	1.498e-05	0	0.0051	0.0005951	92	154602	rs560157222	0.0003	0.0003	0.0002	0.0005	0.0052	0.0003	0.0003	0.0048	0.0047	5.974e-05	0	0	0	0	0	9.894e-06	0.0002	0.0052	0.0002	0.0002	6.424e-05	0.0003	0.0054	0.0001	0.0001	0.0038	0.0032	7.218e-05	0	0	0	0	0	0	0	0	0.0054	0.23	0.18498	T	0.199	0.27679	T	0.0	0.07471	B	0.0	0.06944	B	0.140997	0.18291	N	0.604715	1	0.08975	N	0	0.06538	N	-0.54	0.71068	T	-0.12	0.09627	N	0.088	0.07673	-1.0049	0.28487	T	0.133	0.44583	T	10	0.003067702	0.00051	T	0.012349	0.30844	T	0.066	0.19193	0.223	0.14665	0.336933722576	0.33308	0.07039887773780903	0.06976	0.397440186395	0.40830	0.226068466902	0.01690	T	0.036986	0.24309	T	-0.491049	0.00641	T	-0.477594	0.24703	T	0.0142833958114729	0.00284	T	0.650635	0.27311	T	0.051526956	0.09476	0.055466983	0.09736	0.051526956	0.09476	0.055466983	0.09736	-6.365	0.54782	T	.	.	0.061	0.01428	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	0.113544	0.05123	1.652	0.88302031965010586	0.17871	0.01652	0.05304	N	AEFBI	0.053394	0.09616	N	-1.36251334971926	0.02997	0.1332011	-1.35250853985041	0.03776	0.1768558	0.999947620840583	0.47345	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.22	-4.34	0.03412	0.052000	0.14046	-4.019000	0.02390	-1.790000	0.00639	0.001000	0.13787	0.000000	0.08366	0.816000	0.38450	0.0:0.2543:0.0:0.7457	12.950	0.57795	577	0.69927	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	966.49	34	chr12	109953190	.	C	T	966.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.478;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-1.175;SOR=0.625	GT:AD:DP:GQ:PL	0/1:51,45:96:99:977,0,1174	6	0	1	0
chr12	110531589	110531589	A	T	exonic	RAD9B	.	nonsynonymous SNV	RAD9B:NM_001286536:exon9:c.A934T:p.N312Y,RAD9B:NM_001368056:exon10:c.A550T:p.N184Y,RAD9B:NM_001368052:exon11:c.A1141T:p.N381Y,RAD9B:NM_001368053:exon11:c.A925T:p.N309Y,RAD9B:NM_152442:exon12:c.A1250T:p.E417V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00417218592625	9.7e-05	.	4.395e-05	0	0	0	0	7.969e-05	0	0	3.23e-05	5	154602	rs377565239	4.195e-05	4.378e-05	4.383e-05	4.005e-05	0.0002	3.328e-05	3.017e-05	3.911e-05	3.509e-05	0	0	7.668e-05	0	0	0.0002	4.973e-05	4.989e-05	0	1.972e-05	1.97e-05	2.571e-05	1.345e-05	1.47e-05	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0063	1.47e-05	0	0	0.044	0.41096	D	0.596	0.08052	T	0.062	0.23277	B	0.017	0.18140	B	.	.	.	.	0.999922	0.19486	N	.	.	.	2.1	0.19990	T	-0.29	0.11728	N	0.219	0.24510	-0.9746	0.36213	T	0.016	0.06711	T	9	0.05084145	0.04876	T	0.004172	0.10026	T	0.021	0.04004	.	.	0.184867976434	0.18130	.	.	.	.	.	.	.	0.009992	0.09054	T	-0.327557	0.06298	T	-0.577839	0.14739	T	0.115477738765188	0.13983	T	0.385961	0.09480	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.22717	B	.	.	-0.730912	0.01250	0.064	0.96606779532231002	0.30427	0.14099	0.18222	N	AEFDGBCI	0.046927	0.07847	N	-1.2450473402502	0.04365	0.1968688	-1.2223773673988	0.05552	0.2648583	0.999997233039846	0.74766	0.393558	0.05922	0	0.518115	0.08659	0	0.514364	0.09456	0	0.727631	0.95156	0	.	.	4.81	-0.984	0.09735	0.102000	0.15108	0.596000	0.19873	0.691000	0.84096	0.002000	0.15269	0.001000	0.17328	0.517000	0.29406	0.3546:0.3652:0.1145:0.1657	1.441	0.02212	227	0.91186	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	794.49	62	chr12	110531589	.	A	T	794.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.067;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-0.899;SOR=0.627	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1335	6	0	1	0
chr12	111702254	111702254	G	C	exonic	ACAD10	.	nonsynonymous SNV	ACAD10:NM_001136538:exon3:c.G280C:p.A94P,ACAD10:NM_025247:exon3:c.G280C:p.A94P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0373141519834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	2.24e-05	7.732e-05	0	0	0.0004	0.0002	0.0001	5.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.72154	D	0.029	0.79402	D	0.963	0.55692	D	0.602	0.50862	P	0.007397	0.31425	N	0.222822	1	0.81001	D	0.695	0.17993	N	2.95	0.09635	T	-2.42	0.53096	N	0.442	0.60410	-1.1983	0.00163	T	0.042	0.18202	T	10	0.47138333	0.59883	T	0.037314	0.57541	D	0.254	0.56428	0.727	0.86111	0.530852358449	0.52733	0.7634971630154191	0.76297	0.607455808728	0.55555	0.344899773598	0.17168	T	0.271746	0.64409	T	-0.108354	0.35039	T	-0.393419	0.34152	T	0.738627551699252	0.42663	D	0.732227	0.45757	T	0.33670285	0.56016	0.38002715	0.63044	0.33670285	0.56016	0.38002715	0.63044	-10.061	0.74276	D	.	.	0.844	0.79432	P	.;.;.;.	.;.;.;.	4.899048	0.80508	27.3	0.99731050189706616	0.82761	0.97118	0.72795	D	AEFBI	0.814060	0.73638	D	0.420087935551001	0.62526	4.470066	0.4971641940229	0.67801	5.133027	0.993659247621036	0.33302	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	6.689000	0.74392	9.809000	0.81737	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0:0.0:1.0:0.0	18.426	0.90554	533	0.73433	.;Predicted HAD-superfamily phosphatase, subfamily IA/Epoxide hydrolase, N-terminal;.;Predicted HAD-superfamily phosphatase, subfamily IA/Epoxide hydrolase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	39.68	21	chr12	111702254	.	G	C	39.68	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.547;DP=201;ExcessHet=0;FS=110.967;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=0.245;SOR=6.516	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:50,11:61:34:0|1:111702252_G_A:0,34,1295:111702252	5	0	1	1
chr12	112141200	112141200	C	G	exonic	TRAFD1	.	nonsynonymous SNV	TRAFD1:NM_001143906:exon5:c.C619G:p.Q207E,TRAFD1:NM_006700:exon5:c.C619G:p.Q207E	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.00244217227902	.	.	3.39e-05	0	8.694e-05	0	0	0	0	0.0002	2.59e-05	4	154602	rs770479612	1.368e-05	1.368e-05	6.806e-06	2.063e-05	0.0002	8.94e-06	7.26e-06	0.0001	0.0001	0	0	0	0	0	0	0	4.967e-05	0.0002	6.572e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.284	0.16358	T	1.0	0.01155	T	0.241	0.30888	B	0.058	0.26451	B	0.335159	0.04154	N	1.421560	0.935144	0.26952	N	2.2	0.62015	M	4.13	0.02865	T	-0.29	0.13418	N	0.216	0.24883	-0.9299	0.44153	T	0.015	0.05801	T	10	0.04639563	0.03825	T	0.002442	0.04813	T	0.108	0.30607	0.338	0.32816	0.250579442822	0.24687	0.22644838438636808	0.22559	0.167219784978	0.18855	0.276089549065	0.06954	T	0.092258	0.38966	T	-0.485373	0.00689	T	-0.642832	0.09464	T	0.0549106869928484	0.06343	T	0.738226	0.35599	T	0.07637076	0.17269	0.09179335	0.21598	0.07637076	0.17268	0.09179335	0.21598	-3.226	0.12800	T	.	.	0.067	0.03336	B	.;.;.	.;.;.	2.068083	0.26296	17.07	0.16443905837709777	0.00441	0.93717	0.58990	D	AEFBI	0.186922	0.31422	N	-0.214655090391505	0.32533	1.835672	-0.148609298514531	0.33462	1.914336	0.999999963103706	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.54	4.54	0.55220	1.130000	0.31007	3.400000	0.38123	0.599000	0.40250	0.093000	0.22645	0.995000	0.32472	0.941000	0.48210	0.0:1.0:0.0:0.0	15.233	0.73100	111	0.95468	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	484.83	34	chr12	112141200	.	C	G	484.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.176;DP=267;ExcessHet=0;FS=1.908;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.64;ReadPosRankSum=0.838;SOR=0.493	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1231	6	0	1	0
chr12	113127832	113127832	G	A	exonic	RASAL1	.	nonsynonymous SNV	RASAL1:NM_001193521:exon4:c.C278T:p.A93V,RASAL1:NM_001301202:exon4:c.C278T:p.A93V,RASAL1:NM_001193520:exon5:c.C278T:p.A93V,RASAL1:NM_004658:exon5:c.C278T:p.A93V	.	404	1089	28	1	0	30	0.013587	.	.	.	713346	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.017	.	0.0075	0.00738818	0.0084	0.0022	0.0042	0	0.0055	0.0101	0.0122	0.0139	0.0079624	1231	154602	rs146551951	0.0096	0.0096	0.0095	0.0097	0.0123	0.0094	0.0094	0.0117	0.0114	0.0022	0.0056	0.0071	5.043e-05	0.0056	0.0047	0.0103	0.0094	0.0123	0.0071	0.0071	0.0073	0.0069	0.0131	0.0067	0.0066	0.0105	0.0099	0.0017	0	0.0074	0.0066	0.0002	0.0043	0.0068	0.0109	0.0095	0.0131	0.342	0.12632	T	0.434	0.13557	T	0.184	0.40782	B	0.014	0.31843	B	0.059176	0.22344	N	0.493986	0.999842	0.20103	N	1.345	0.33447	L	2.98	0.09356	T	-0.72	0.22294	N	0.193	0.25622	-0.9761	0.35882	T	0.008	0.02884	T	10	0.0050355196	0.00108	T	.	.	.	0.017	0.02790	.	.	0.411401001288	0.40751	0.352845300908533	0.35198	0.294821894989	0.31898	0.385520458221	0.23036	T	0.011193	0.10021	T	-0.582659	0.00186	T	-0.598695	0.12921	T	0.00202395652669937	0.00021	T	0.776522	0.40874	T	0.049587294	0.08829	0.03540467	0.02787	0.049587294	0.08828	0.03540467	0.02786	-3.7	0.21328	T	0.14540798866455798	0.16692	0.082	0.10256	B	.;.;.;.	.;.;.;.	2.447649	0.31515	18.76	0.35405338665834779	0.02220	0.17063	0.19672	N	AEFDBI	0.135380	0.25569	N	-0.845387034176186	0.12163	0.5912431	-0.834392559455634	0.13663	0.7100093	0.856361246458402	0.25141	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	5.04	1.92	0.24912	0.501000	0.22286	1.671000	0.27955	-0.166000	0.11466	0.000000	0.06391	0.817000	0.27092	0.025000	0.12405	0.0865:0.1557:0.437:0.3209	3.130	0.06034	688	0.59122	.;C2 domain|C2 domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.010101	0.005435	0.005848	0.000000	0.008621	0.000000	0.007576	0.07143	773.49	36	chr12	113127832	.	G	A	773.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.077;DP=257;ExcessHet=0;FS=0.909;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-1.181;SOR=0.608	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1220	6	0	1	0
chr12	113200761	113200761	A	G	exonic	IQCD	.	nonsynonymous SNV	IQCD:NM_001330452:exon3:c.T782C:p.V261A	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	.	.	0.00279553	0.0074	0	0	0	0	0	0	0.0120	0.0007633	118	154602	rs368434644	0.0007	0.0006	0.0004	0.0010	0.0110	0.0006	0.0006	0.0104	0.0102	9.5e-05	2.806e-05	0	0	0	0.0004	9.27e-06	0.0007	0.0110	0.0004	0.0004	0.0002	0.0006	0.0116	0.0003	0.0003	0.0092	0.0083	7.215e-05	0	0	0	0	0	0	0	0	0.0116	0.006	0.63226	D	0.108	0.62352	T	0.999	0.77913	D	0.962	0.70672	D	.	.	.	.	0.945733	0.81001	D	.	.	.	3.07	0.08547	T	-2.74	0.58248	D	0.366	0.48134	-1.0665	0.10200	T	0.043	0.18535	T	8	0.006459415	0.00146	T	.	.	.	0.158	0.41098	0.333	0.32005	0.255777322467	0.25185	0.5225190703350903	0.52174	.	.	.	.	.	0.186587	0.53993	T	-0.428412	0.01515	T	-0.377772	0.35983	T	0.161174161595868	0.17957	T	0.655434	0.26547	T	0.24971074	0.47968	0.3798137	0.63028	0.24971074	0.47968	0.3798137	0.63027	-4.144	0.25936	T	.	.	0.535	0.71896	A	.;.	.;.	3.652541	0.51852	23.2	0.99783710664456959	0.87043	0.95338	0.64331	D	AEFBI	0.569861	0.57447	D	0.509614700493387	0.67656	5.111	0.547468970746534	0.71221	5.621877	0.999991304114212	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.8	5.8	0.92081	5.891000	0.69523	9.274000	0.79659	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.133	0.72216	734	0.53889	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	866.53	37	chr12	113200761	.	A	G	866.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.199;DP=268;ExcessHet=0;FS=1.699;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=2.14;SOR=0.879	GT:AD:DP:GQ:PL	0/1:61,39:100:99:877,0,1632	6	0	1	0
chr12	113307780	113307780	A	C	exonic	SLC8B1	.	nonsynonymous SNV	SLC8B1:NM_001330466:exon12:c.T1154G:p.V385G,SLC8B1:NM_001358345:exon13:c.T1322G:p.V441G,SLC8B1:NM_024959:exon13:c.T1322G:p.V441G	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.579	0.13849960532	.	.	5.033e-05	0	0	0	0	9.177e-05	0	0	5.82e-05	9	154602	rs778790026	3.216e-05	3.215e-05	3.131e-05	3.301e-05	0.0014	2.478e-05	2.221e-05	0.0007	0.0005	0	0	0	0	0	0.0014	3.237e-05	4.968e-05	0	1.972e-05	1.97e-05	1.285e-05	2.691e-05	4.409e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.067	0.78490	T	0.002	0.79402	D	0.999	0.77913	D	0.987	0.77487	D	0.001214	0.39820	N	0.164310	1	0.81001	D	.	.	.	-0.3	0.67874	T	-5.59	0.86527	D	0.762	0.77601	-0.0258	0.81719	T	0.484	0.80311	T	10	0.83826786	0.82981	D	0.139	0.82099	D	0.579	0.83024	.	.	0.809923124787	0.80813	0.9615975286832057	0.96145	0.687456490586	0.60386	0.701551735401	0.67368	T	0.654828	0.89569	D	0.233999	0.77096	D	0.290029	0.87676	D	0.921293258666992	0.58087	D	0.779722	0.42389	T	0.39228594	0.60194	0.46712747	0.69084	0.39228594	0.60195	0.46712747	0.69085	-11.208	0.80786	D	.	.	0.580	0.69456	P	.;.;.	.;.;.	5.810916	0.93657	33	0.99544918858026776	0.70773	0.93346	0.57971	D	AEFDGBHCI	0.807875	0.73180	D	0.587075731987862	0.72366	5.794583	0.460352479205581	0.65386	4.817026	0.999999999940014	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.35	3.22	0.36041	7.117000	0.76757	11.044000	0.85213	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.9156:0.0:0.0844:0.0	9.759	0.39687	825	0.40060	Sodium/calcium exchanger membrane region;Sodium/calcium exchanger membrane region;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	941.44	35	chr12	113307780	.	A	C	941.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.551;DP=281;ExcessHet=0;FS=3.737;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=-0.687;SOR=0.864	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1205	6	0	1	0
chr12	114674766	114674766	C	T	exonic	TBX3	.	nonsynonymous SNV	TBX3:NM_005996:exon6:c.G1109A:p.C370Y,TBX3:NM_016569:exon7:c.G1169A:p.C390Y	Ulnar-mammary syndrome, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	3508271	TBX3-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.249	0.0657077233053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.783e-06	4.104e-06	2.765e-06	2.802e-06	0.0005	6.5e-07	4.4e-07	0.0001	7.568e-05	0	0	0	0	0	0.0005	0	0	1.198e-05	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.305	0.15047	T	1.0	0.01155	T	0.04	0.40458	B	0.033	0.40007	B	0.245571	0.03612	N	1.671300	0.633779	0.30676	N	0.345	0.11182	N	-2.24	0.87194	D	-1.59	0.38924	N	0.429	0.46835	-0.5693	0.66042	T	0.428	0.77075	T	10	0.19905865	0.35900	T	0.065708	0.69661	D	0.249	0.55752	0.223	0.14665	0.42491565096	0.42108	0.06319278459488357	0.06258	1.14515509009	0.79054	0.643330574036	0.59038	T	0.189811	0.54416	T	0.00476143	0.52310	T	-0.230937	0.51682	T	0.412574797868729	0.29414	T	0.764624	0.39166	T	0.17894825	0.38941	0.21561286	0.46158	0.17894825	0.38941	0.21561286	0.46157	-5.933	0.45716	T	.	.	0.126	0.26825	B	.;.	.;.	3.302847	0.45351	22.1	0.96945324467791127	0.31715	0.87079	0.46512	D	AEFDBCI	0.728982	0.67684	D	-0.131465485647192	0.36025	2.076985	0.0618153341583583	0.42646	2.583156	0.999999998100107	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.606814	0.37721	0	0.586402	0.36253	0	.	.	5.08	5.08	0.68373	2.596000	0.45870	4.842000	0.45294	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.886000	0.42526	0.0:0.9187:0.0:0.0813	12.895	0.57485	961	0.08552	Transcription factor, T-box, region of unknown function;Transcription factor, T-box, region of unknown function	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	60.44	34	chr12	114674766	.	C	T	60.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.385;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=1.96;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr12	117280772	117280772	G	A	exonic	NOS1	.	nonsynonymous SNV	NOS1:NM_001204213:exon7:c.C469T:p.P157S,NOS1:NM_001204214:exon7:c.C469T:p.P157S,NOS1:NM_000620:exon8:c.C1477T:p.P493S,NOS1:NM_001204218:exon8:c.C1477T:p.P493S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.011196850895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.46513	D	0.082	0.43344	T	0.55	0.38124	P	0.151	0.34210	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.025	0.55430	M	0.96	0.42888	T	-5.26	0.84105	D	0.387	0.48596	-0.8271	0.53486	T	0.140	0.45903	T	10	0.39102215	0.54892	T	0.011197	0.28580	T	0.222	0.51872	0.514	0.61307	0.566098420041	0.56274	0.7565361529728372	0.75601	2.14347587928	0.95256	0.65468609333	0.60651	T	0.447944	0.79001	T	-0.0498468	0.44470	T	-0.309378	0.43725	T	0.992138803005219	0.82542	D	0.965103	0.87078	D	0.66960335	0.76411	0.666604	0.80449	0.66960335	0.76413	0.666604	0.80450	-9.008	0.67749	D	.	.	0.089	0.12037	B	.;.;.;.	.;.;.;.	4.235073	0.64170	24.7	0.99869672117085961	0.94726	0.98050	0.79176	D	AEFDBI	0.942048	0.94612	D	0.428305905143774	0.62983	4.523711	0.50898904938119	0.68595	5.241603	0.999999929284168	0.74766	0.614807	0.35715	0	0.547309	0.14657	0	0.616094	0.41390	0	0.564101	0.26826	0	.	.	5.14	5.14	0.70008	7.947000	0.87238	11.748000	0.95342	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	18.798	0.91967	894	0.26265	Nitric oxide synthase, N-terminal;.;.;Nitric oxide synthase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr12	117280772	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	6	1	0	0
chr12	117311552	117311552	C	T	exonic	NOS1	.	nonsynonymous SNV	NOS1:NM_000620:exon3:c.G766A:p.V256M,NOS1:NM_001204218:exon3:c.G766A:p.V256M	.	416	1105	1	0	0	1	0.000452284	.	.	.	2358172	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.015	0.00597369221384	.	.	2.53e-05	0	0	0	0	4.537e-05	0	0	1.94e-05	3	154602	rs746579521	9.174e-05	9.166e-05	9.944e-05	8.396e-05	0.0001	7.897e-05	7.371e-05	9.384e-05	8.789e-05	2.988e-05	4.485e-05	0	0	0	0	0.0001	9.944e-05	3.496e-05	4.6e-05	4.596e-05	3.853e-05	5.381e-05	7.348e-05	2.109e-05	1.527e-05	2.846e-05	1.858e-05	2.413e-05	0	6.545e-05	0	0	0	0	7.348e-05	0	0	0.191	0.21066	T	0.136	0.34009	T	0.003	0.11197	B	0.002	0.06944	B	0.660931	0.10427	N	0.849680	1	0.08975	N	1.59	0.40313	L	4.97	0.01356	T	-0.26	0.11185	N	0.039	0.03841	-0.9703	0.37136	T	0.015	0.05801	T	10	0.054187983	0.05729	T	0.005974	0.15579	T	0.015	0.02232	.	.	0.171220215726	0.16700	0.26489788378585455	0.26402	0.239912507065	0.26538	0.306857168674	0.11431	T	0.337531	0.70690	T	-0.544971	0.00313	T	-0.76091	0.03080	T	0.0216860489798458	0.00873	T	0.763224	0.38939	T	0.031064192	0.02878	0.04494958	0.05939	0.031064192	0.02878	0.04494958	0.05939	-3.962	0.23233	T	.	.	0.064	0.03964	B	.;.;.;.	.;.;.;.	0.617000	0.09856	6.617	0.93031259036585323	0.22632	0.01688	0.05383	N	AEFDBI	0.045600	0.07476	N	-1.01296257892385	0.08334	0.3904121	-1.00685698179333	0.09634	0.4804325	7.514356571963E-4	0.07758	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.836244	0.99985	0	.	.	5.65	1.01	0.19044	0.089000	0.14843	-0.024000	0.12886	-0.332000	0.05765	0.030000	0.20431	0.001000	0.17328	0.089000	0.17737	0.0:0.4878:0.0:0.5122	6.494	0.21331	888	0.27761	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.1429	33.22	34	chr12	117311552	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1421	6	1	0	0
chr12	118244932	118244932	T	C	exonic	TAOK3	.	nonsynonymous SNV	TAOK3:NM_001346487:exon4:c.A154G:p.I52V,TAOK3:NM_001346489:exon4:c.A154G:p.I52V,TAOK3:NM_016281:exon4:c.A154G:p.I52V,TAOK3:NM_001346488:exon5:c.A154G:p.I52V	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00976266118894	.	0.000599042	0.0003	9.639e-05	0	0	0	0	0	0.0018	0.0002199	34	154602	rs564531727	9.877e-05	0.0001	6.279e-05	0.0001	0.0015	8.534e-05	8.003e-05	0.0013	0.0012	0	0	0	0	0	0	5.411e-06	0.0001	0.0015	3.283e-05	3.281e-05	2.57e-05	4.029e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.091	0.31834	T	0.082	0.43913	T	0.012	0.16265	B	0.036	0.22909	B	0.023830	0.26371	N	0.382752	0.98758	0.40615	D	0.98	0.24916	L	1.9	0.62183	T	-0.72	0.23808	N	0.108	0.09349	-1.0565	0.12646	T	0.111	0.39841	T	10	0.01625985	0.00342	T	0.009763	0.25472	T	0.013	0.01715	0.503	0.59615	0.258436476835	0.25460	0.2783703484509638	0.27750	0.324152812621	0.34570	0.285633504391	0.08290	T	0.041874	0.31540	T	-0.447191	0.01173	T	-0.450514	0.27640	T	0.0117020317879948	0.00179	T	0.89791	0.64303	D	0.09813453	0.23142	0.080597065	0.18244	0.09813453	0.23142	0.080597065	0.18244	-7.214	0.55582	T	.	.	0.075	0.12891	B	.;.;.;.;.;.	.;.;.;.;.;.	0.824840	0.11960	8.521	0.95011603876023065	0.25985	0.38450	0.25991	N	AEFBI	0.081013	0.16388	N	-0.603967461634763	0.18824	0.9804182	-0.482329960301677	0.22640	1.230732	7.72579364528384E-5	0.04552	0.706298	0.61202	0	0.724815	0.89359	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.14	-0.811	0.10310	0.480000	0.21954	-1.201000	0.06041	0.605000	0.46263	0.147000	0.23610	0.000000	0.08366	0.998000	0.85391	0.0:0.3844:0.0:0.6156	10.616	0.44640	963	0.08280	Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain;Protein kinase, ATP binding site|Protein kinase domain;Protein kinase, ATP binding site|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	876.44	35	chr12	118244932	.	T	C	876.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.417;DP=263;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=0.33;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1048:.	6	0	1	0
chr12	120175820	120175820	C	T	exonic	GCN1	.	nonsynonymous SNV	GCN1:NM_006836:exon11:c.G968A:p.R323Q	.	432	1089	1	0	0	1	0.000458926	.	.	.	4138102	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.00616723245469	.	0.000199681	5.142e-05	0	9.012e-05	0.0001	0	0	0	0.0003	4.53e-05	7	154602	rs540952471	2.396e-05	2.394e-05	1.498e-05	3.302e-05	0.0003	1.74e-05	1.54e-05	0.0002	0.0002	5.986e-05	0	0	2.521e-05	0	0.0002	2.699e-06	3.315e-05	0.0003	3.282e-05	3.281e-05	1.284e-05	5.369e-05	0.0006	1.26e-05	7.97e-06	0.0002	8.989e-05	2.404e-05	0	0	0	0	0	0	1.47e-05	0	0.0006	0.318	0.13654	T	0.324	0.18903	T	.	.	.	.	.	.	0.000066	0.52346	D	0.151780	0.555117	0.32166	D	.	.	.	3.56	0.04696	T	-0.33	0.12472	N	0.227	0.25499	-0.9935	0.31696	T	0.006	0.02206	T	10	0.072707176	0.10889	T	0.006167	0.16170	T	0.035	0.08770	0.401	0.43081	0.043077524339	0.03247	0.07105298810378172	0.07042	0.203220193723	0.22737	0.244394987822	0.03200	T	.	.	.	-0.493342	0.00623	T	-0.640451	0.09636	T	0.0399364367788063	0.03678	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.01449	B	.	.	2.372779	0.30450	18.44	0.99614594896939879	0.75052	0.71497	0.35039	D	AEFBCI	0.128320	0.24604	N	-0.504003876707224	0.21949	1.168638	-0.294079152902122	0.28293	1.576509	0.329484544106876	0.19470	0.722319	0.85440	0	0.698795	0.70079	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.66	2.84	0.32241	1.894000	0.39401	0.140000	0.15159	0.599000	0.40250	1.000000	0.71638	0.112000	0.22806	0.988000	0.63387	0.0:0.5738:0.0:0.4262	7.987	0.29379	444	0.79803	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1399.63	42	chr12	120175820	.	C	T	1399.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.878;DP=301;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-0.088;SOR=0.682	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1308	6	0	1	0
chr12	120214922	120214922	C	T	exonic	PXN	.	nonsynonymous SNV	PXN:NM_001243756:exon8:c.G1223A:p.R408Q,PXN:NM_002859:exon8:c.G1079A:p.R360Q,PXN:NM_025157:exon8:c.G680A:p.R227Q,PXN:NM_001080855:exon9:c.G1181A:p.R394Q	.	418	1070	34	0	0	34	0.0156394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0797572520239	0.0016	0.000599042	0.0023	0.0003	0.0004	0	0.0032	0.0034	0	0.0009	0.0021216	328	154602	rs111674215	0.0019	0.0019	0.0020	0.0019	0.0224	0.0019	0.0019	0.0192	0.0180	0.0005	0.0012	0.0054	0.0002	0.0029	0.0224	0.0019	0.0030	0.0009	0.0016	0.0016	0.0013	0.0018	0.0020	0.0014	0.0013	0.0017	0.0016	0.0003	0	0.0012	0.0037	0.0004	0.0042	0.0068	0.0020	0.0019	0.0015	0.133	0.27544	T	0.271	0.23984	T	0.585	0.40359	P	0.105	0.31615	B	.	.	.	.	1	0.81001	D	-0.235	0.03917	N	-2.25	0.87272	D	-2.41	0.52938	N	0.525	0.61341	-0.4091	0.71739	T	0.326	0.69418	T	9	0.010912269	0.00241	T	0.079757	0.73308	D	0.399	0.71321	.	.	0.893840687942	0.89279	0.4575059753207088	0.45668	0.771881204982	0.64809	0.732327580452	0.71847	T	0.707445	0.91628	D	-0.245447	0.14661	T	-0.129335	0.61029	T	0.02653105194599	0.01479	T	0.858514	0.84742	D	0.26880148	0.49952	0.23454912	0.48674	0.26880148	0.49952	0.23454912	0.48673	-12.086	0.85897	D	.	.	0.335	0.55590	B	.;.;.;.;.;.	.;.;.;.;.;.	5.348436	0.89727	31	0.99892984177864352	0.96666	0.90481	0.51693	D	AEFDBCI	0.718958	0.66999	D	-0.043095108725219	0.39911	2.361425	0.164567877012949	0.47919	3.015019	0.999999999982393	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.18	5.18	0.71140	6.085000	0.70992	7.640000	0.63152	0.577000	0.29297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.685	0.91521	437	0.80299	.;.;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;.;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.023162	0.015152	0.024457	0.038012	0.000000	0.017241	0.021341	0.018939	0.07143	927.44	76	chr12	120214922	.	C	T	927.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.39;DP=254;ExcessHet=0;FS=0.869;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.296;SOR=0.617	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1301	6	0	1	0
chr12	120993562	120993562	-	A	exonic	HNF1A	.	frameshift insertion	HNF1A:NM_000545:exon3:c.570dupA:p.G191Rfs*2,HNF1A:NM_001306179:exon3:c.570dupA:p.G191Rfs*2	Diabetes mellitus, insulin-dependent, 20;Hepatic adenoma, somatic;MODY, type III, Autosomal dominant;Renal cell carcinoma	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	52.4	43	chr12	120993562	.	C	CA	52.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-0.431;SOR=0.693	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	6	0	1	0
chr12	121011115	121011115	T	A	exonic	C12orf43	.	nonsynonymous SNV	C12orf43:NM_001286191:exon2:c.A177T:p.Q59H,C12orf43:NM_001286192:exon2:c.A177T:p.Q59H,C12orf43:NM_001286195:exon2:c.A177T:p.Q59H,C12orf43:NM_001286196:exon2:c.A177T:p.Q59H,C12orf43:NM_001286197:exon2:c.A177T:p.Q59H,C12orf43:NM_022895:exon2:c.A177T:p.Q59H,C12orf43:NM_001286198:exon3:c.A51T:p.Q17H	.	437	1071	14	0	0	14	0.00649351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.0150175476265	0.0032	0.000798722	0.0038	0.0012	0.0041	0	0.0018	0.0054	0.0044	0.0016	0.0036998	572	154602	rs112728225	0.0044	0.0044	0.0044	0.0044	0.0073	0.0043	0.0043	0.0055	0.0051	0.0009	0.0059	0.0186	2.519e-05	0.0019	0.0073	0.0045	0.0062	0.0011	0.0041	0.0041	0.0042	0.0041	0.0087	0.0039	0.0038	0.0075	0.0071	0.0011	0	0.0087	0.0222	0	0.0024	0.0034	0.0048	0.0066	0.0015	0.078	0.34982	T	0.109	0.46406	T	0.051	0.22415	B	0.023	0.19966	B	0.196636	0.16707	N	0.624203	1	0.08975	N	.	.	.	0.8	0.49068	T	-2.43	0.55181	N	0.232	0.33469	-0.8908	0.48864	T	0.117	0.41320	T	10	0.004691571	0.00099	T	0.015018	0.35506	T	0.130	0.35528	.	.	0.225902525712	0.22197	0.1964779174714574	0.19564	0.74176315843	0.63301	.	.	.	0.089503	0.38385	T	-0.502812	0.00551	T	-0.492281	0.23152	T	0.0108098246428127	0.00153	T	0.647535	0.25853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.46447	B	.;.;.;.;.;.	.;.;.;.;.;.	0.932503	0.13078	9.581	0.58142698737610365	0.05926	0.03873	0.09239	N	AEFBI	0.078282	0.15791	N	-1.0395364445583	0.07794	0.3632934	-1.24160540764897	0.05257	0.2500275	0.32892325456824	0.19465	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.59	-6.29	0.01838	-0.805000	0.04636	-3.641000	0.02637	-1.707000	0.00749	0.009000	0.18154	0.000000	0.08366	0.025000	0.12405	0.1128:0.1831:0.1116:0.5925	4.208	0.09954	376	0.83959	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011581	0.020202	0.013587	0.002924	0.050000	0.017241	0.006098	0.007576	0.07143	1002.53	57	chr12	121011115	.	T	A	1002.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=3.46;SOR=0.801	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1265	6	0	1	0
chr12	121274159	121274159	C	T	exonic	CAMKK2	.	nonsynonymous SNV	CAMKK2:NM_001270486:exon1:c.G368A:p.C123Y,CAMKK2:NM_001270485:exon2:c.G368A:p.C123Y,CAMKK2:NM_006549:exon2:c.G368A:p.C123Y,CAMKK2:NM_153499:exon2:c.G368A:p.C123Y,CAMKK2:NM_153500:exon2:c.G368A:p.C123Y,CAMKK2:NM_172214:exon2:c.G368A:p.C123Y,CAMKK2:NM_172215:exon2:c.G368A:p.C123Y,CAMKK2:NM_172216:exon2:c.G368A:p.C123Y,CAMKK2:NM_172226:exon2:c.G368A:p.C123Y	.	403	1085	33	1	0	35	0.015873	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	0.0081	0.00858626	0.0148	0.0021	0.0093	0.0012	0.0228	0.0154	0.0241	0.0316	0.0094436	1460	154602	rs35403710	0.0097	0.0097	0.0096	0.0099	0.0161	0.0096	0.0095	0.0154	0.0151	0.0019	0.0041	0.0096	0.0004	0.0123	0.0146	0.0099	0.0092	0.0161	0.0083	0.0083	0.0079	0.0087	0.0156	0.0079	0.0078	0.0127	0.0117	0.0019	0.0593	0.0068	0.0107	0.0014	0.0145	0.0308	0.0107	0.0095	0.0156	1.0	0.14064	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.073513	0.21342	N	0.513997	0.915977	0.27403	N	0	0.06538	N	-0.6	0.71662	T	2.64	0.10656	N	0.088	0.11769	-0.9951	0.31272	T	0.061	0.25383	T	10	0.0040839314	0.00080	T	.	.	.	0.082	0.23913	.	.	0.176862962021	0.17281	0.43557359236685883	0.43474	0.621552758047	0.56441	0.368951529264	0.20682	T	0.093184	0.39159	T	-0.503794	0.00544	T	-0.482162	0.24216	T	0.000768810310415796	0.00007	T	0.79742	0.44372	T	0.021128068	0.00700	0.048166234	0.07098	0.021128068	0.00700	0.048166234	0.07097	-5.457	0.42370	T	.	.	0.073	0.05491	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	-0.374368	0.02310	0.245	0.37119601189109436	0.02427	0.20043	0.20893	N	AEFDBI	0.080568	0.16291	N	-1.29796890440581	0.03700	0.165763	-1.19460728582447	0.05999	0.2874759	0.340445358134234	0.19578	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	4.93	-0.258	0.12334	1.178000	0.31590	-0.630000	0.08130	-0.181000	0.10308	0.997000	0.40164	0.000000	0.08366	0.108000	0.18652	0.0:0.2583:0.1488:0.5929	4.887	0.13063	541	0.72942	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013636	0.005102	0.016304	0.014620	0.000000	0.034483	0.012270	0.011364	0.07143	715.49	36	chr12	121274159	.	C	T	715.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.719;DP=242;ExcessHet=0;FS=1.152;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.55;ReadPosRankSum=1.67;SOR=0.919	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1082	6	0	1	0
chr12	121779653	121779653	C	T	exonic	RHOF	.	nonsynonymous SNV	RHOF:NM_019034:exon5:c.G481A:p.A161T	.	422	1084	15	1	0	17	0.00778032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	.	0.0025	0.014377	0.0102	0.0012	0.0074	0.0233	0.0156	0.0046	0.0167	0.0305	0.0092431	1429	154602	rs34719836	0.0054	0.0054	0.0046	0.0062	0.0286	0.0053	0.0052	0.0276	0.0273	0.0014	0.0061	0.0345	0.0180	0.0144	0.0132	0.0018	0.0090	0.0286	0.0054	0.0054	0.0044	0.0065	0.0296	0.0051	0.0050	0.0257	0.0242	0.0011	0	0.0073	0.0265	0.0199	0.0151	0.0272	0.0021	0.0118	0.0296	0.267	0.16198	T	0.117	0.36365	T	0.041	0.21357	B	0.009	0.14300	B	0.000064	0.52346	D	0.130199	0.733097	0.81001	D	0.105	0.08473	N	-0.43	0.69657	T	-0.58	0.17417	N	0.031	0.14622	-0.9351	0.43379	T	0.065	0.27017	T	10	0.0039672554	0.00076	T	.	.	.	0.128	0.35103	.	.	.	.	0.5111428600780548	0.51036	0.251119777169	0.27690	0.389992594719	0.23669	T	0.117886	0.59509	T	-0.540859	0.00331	T	-0.52737	0.19550	T	0.0136014360657771	0.00252	T	0.60024	0.23960	T	0.03787948	0.04942	0.0666522	0.13684	0.03787948	0.04941	0.0666522	0.13683	-3.98	0.23503	T	.	.	0.166	0.36495	B	.;.;.	.;.;.	1.789484	0.22746	15.75	0.98776299459780836	0.46049	0.24544	0.22426	N	AEFDGBCI	0.057339	0.10672	N	-0.493553668647655	0.22291	1.189256	-0.335312879505817	0.26967	1.493189	0.99999977544347	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.655142	0.61905	0	.	.	5.02	4.07	0.46726	0.609000	0.23935	0.637000	0.20283	-0.171000	0.11205	0.221000	0.24547	0.146000	0.23136	0.892000	0.42986	0.0:0.7962:0.0:0.2038	8.108	0.30059	662	0.61715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026687	0.035354	0.042120	0.014620	0.000000	0.025862	0.015244	0.003788	0.07143	825.45	43	chr12	121779653	.	C	T	825.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.665;DP=252;ExcessHet=0;FS=0.981;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=1.97;SOR=0.484	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1265	6	0	1	0
chr12	122546216	122546216	C	T	exonic	KNTC1	.	nonsynonymous SNV	KNTC1:NM_014708:exon9:c.C710T:p.S237F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0094565887077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.23183	T	0.045	0.63918	D	0.38	0.41422	B	0.191	0.39164	B	0.029623	0.25426	N	0.436388	0.997776	0.22513	N	1.95	0.52479	M	0.9	0.45248	T	-1.96	0.49846	N	0.257	0.29081	-1.0576	0.12362	T	0.104	0.38243	T	10	0.10405174	0.19163	T	0.009457	0.24786	T	0.077	0.22490	0.287	0.24601	0.480497669815	0.47680	0.19170680487129962	0.19088	0.0743754576111	0.08337	0.314873933792	0.12644	T	0.023218	0.20683	T	-0.194668	0.21577	T	-0.517403	0.20559	T	0.833972215652466	0.48842	D	0.59614	0.23930	T	0.08111155	0.18621	0.11062912	0.26677	0.08111155	0.18620	0.11062912	0.26676	-3.132	0.11668	T	.	.	0.093	0.13969	B	.;.	.;.	1.993388	0.25328	16.72	0.96801931145903364	0.31154	0.53390	0.29360	D	AEFDGBHCI	0.106408	0.21231	N	-0.40114500646272	0.25428	1.380335	-0.342602729448469	0.26737	1.478883	0.999947791431704	0.47345	0.730579	0.87903	0	0.749866	0.99406	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.51	4.61	0.56724	2.580000	0.45733	1.685000	0.28035	-0.172000	0.11096	0.249000	0.24839	0.977000	0.30130	0.956000	0.50813	0.0:0.928:0.0:0.072	16.196	0.81842	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	470.27	33	chr12	122546216	.	C	T	470.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.617;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=0.447;SOR=0.622	GT:AD:DP:GQ:PL	0/1:24,23:47:99:480,0,485	5	0	1	1
chr12	122604952	122604952	G	C	exonic	KNTC1	.	nonsynonymous SNV	KNTC1:NM_014708:exon50:c.G5251C:p.V1751L	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	.	.	0.000798722	0.0010	0	0	0.0104	0	0	0	0.0016	0.0006921	107	154602	rs151223138	0.0003	0.0003	0.0002	0.0004	0.0055	0.0003	0.0003	0.0049	0.0046	0	4.504e-05	0	0.0055	0	0.0002	1.17e-05	0.0006	0.0019	0.0004	0.0004	0.0003	0.0005	0.0091	0.0003	0.0003	0.0070	0.0063	0	0	0	0	0.0091	0	0	0	0.0005	0.0027	0.013	0.53900	D	0.034	0.52727	D	0.959	0.55135	D	0.824	0.59271	P	0.004971	0.33218	N	0.316672	0.767209	0.81001	D	2.25	0.63811	M	1.66	0.27486	T	-1.73	0.41046	N	0.476	0.51137	-0.7055	0.60174	T	0.113	0.40238	T	10	0.012991369	0.00277	T	.	.	.	0.158	0.41098	0.468	0.54052	0.376216005999	0.37235	0.38138009616754037	0.38053	0.269328858967	0.29447	0.506496667862	0.39733	T	0.02009	0.15881	T	-0.403289	0.02203	T	-0.342678	0.40042	T	0.0552976416136323	0.06408	T	0.865813	0.56549	D	0.18547143	0.39911	0.18404599	0.41432	0.18547143	0.39911	0.18404599	0.41431	-2.379	0.05006	T	.	.	0.451	0.62271	A	.	.	4.016058	0.59280	24.1	0.99721347486144341	0.82054	0.97049	0.72393	D	AEFBI	0.506104	0.53697	D	0.508848021827604	0.67611	5.104829	0.496796175526212	0.67779	5.129684	0.409740662952026	0.20202	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.71	4.83	0.61880	2.817000	0.47733	8.613000	0.77777	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.0693:0.0:0.9307:0.0	14.804	0.69565	633	0.64743	RZZ complex, subunit KNTC1/ROD, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	393.49	34	chr12	122604952	.	G	C	393.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.69;DP=217;ExcessHet=0;FS=1.247;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=0.09;SOR=1.058	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1260	6	0	1	0
chr12	122859139	122859139	G	A	exonic	HIP1R	.	nonsynonymous SNV	HIP1R:NM_003959:exon22:c.G2237A:p.R746Q	.	419	1099	4	0	0	4	0.00181653	.	.	.	738515	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.024	0.00555289682375	7.7e-05	0.000998403	0.0021	0	0.0008	0	0	0.0005	0	0.0075	0.0007374	114	154602	rs371380314	0.0005	0.0005	0.0003	0.0007	0.0057	0.0005	0.0005	0.0052	0.0051	0	0.0001	0.0012	0	0	0.0026	0.0001	0.0007	0.0057	0.0004	0.0004	0.0003	0.0004	0.0068	0.0003	0.0003	0.0050	0.0044	0	0	0	0.0012	0.0004	0	0	0.0002	0.0005	0.0068	0.586	0.05881	T	0.588	0.08273	T	0.0	0.02946	B	0.001	0.04355	B	0.542066	0.05320	N	1.211370	1	0.08975	N	-1.355	0.00654	N	2.61	0.13095	T	0.68	0.02228	N	0.129	0.12341	-0.9848	0.33879	T	0.010	0.03492	T	10	0.0022805333	0.00033	T	0.005553	0.14319	T	0.024	0.04979	.	.	0.0806252709748	0.07271	0.07767423918408493	0.07703	0.10246094813	0.11596	0.292665481567	0.09312	T	0.054321	0.29692	T	-0.7431	0.00020	T	-0.838269	0.01125	T	0.00857769675550684	0.00105	T	0.452755	0.12846	T	0.016550314	0.00205	0.02347739	0.00361	0.016550314	0.00205	0.02347739	0.00361	-2.651	0.06901	T	.	.	0.064	0.01645	B	.	.	-0.999096	0.00773	0.025	0.7839907049257957	0.12284	0.01930	0.05886	N	AEFDBI	0.038439	0.05440	N	-1.77706593640299	0.00603	0.026015	-1.83626921154056	0.00650	0.02889922	0.999999793887542	0.74766	0.67177	0.52595	0	0.694456	0.67091	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.15	-10.3	0.00281	-1.943000	0.01630	-4.639000	0.02056	-0.774000	0.03397	0.000000	0.06391	0.000000	0.08366	0.181000	0.21328	0.6099:0.1645:0.0917:0.1339	4.626	0.11863	314	0.87270	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003571	0.005263	0.001362	0.002994	0.000000	0.008929	0.003125	0.007634	0.07143	78.53	34	chr12	122859139	.	G	A	78.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.37;DP=185;ExcessHet=0;FS=2.963;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.61;ReadPosRankSum=0.992;SOR=0.148	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr12	123321580	123321580	C	T	exonic	SBNO1	.	nonsynonymous SNV	SBNO1:NM_001167856:exon17:c.G2278A:p.D760N,SBNO1:NM_018183:exon17:c.G2275A:p.D759N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0170678802019	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1475388843	6.841e-07	6.84e-07	1.361e-06	0	2.236e-05	0	0	.	.	0	2.236e-05	0	0	0	0	0	0	0	6.576e-06	6.569e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.049	0.40573	D	0.056	0.47828	T	0.999	0.90584	D	0.886	0.68407	P	0.000000	0.84330	D	0.051027	1	0.81001	D	2.415	0.69758	M	1.22	0.37052	T	-3.1	0.63554	D	0.667	0.67564	-0.8178	0.54071	T	0.200	0.55667	T	10	0.43694803	0.57854	T	0.017068	0.38615	T	0.158	0.41098	0.135	0.03920	0.298199939746	0.29431	0.3691525881020521	0.36829	1.67767398834	0.89937	0.788200736046	0.80169	T	0.168436	0.51545	T	-0.149955	0.28317	T	-0.453177	0.27346	T	0.98172003030777	0.74070	D	0.974603	0.90967	D	0.4001578	0.60743	0.25630468	0.51327	0.4001578	0.60743	0.25630468	0.51326	-6.131	0.47769	T	.	.	0.241	0.50862	B	.;.;.	.;.;.	4.332085	0.66395	25.0	0.99932390440890206	0.99439	0.98716	0.85943	D	AEFGBI	0.806380	0.73071	D	0.732377600867274	0.81754	7.596989	0.739194559636542	0.85347	8.553618	0.999999968816612	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.46	5.46	0.80021	7.224000	0.77527	7.570000	0.60688	0.530000	0.24713	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	19.307	0.94155	457	0.78953	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	175.83	69	chr12	123321580	.	C	T	175.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.457;DP=407;ExcessHet=0;FS=92.361;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.29;ReadPosRankSum=1.77;SOR=7.168	GT:AD:DP:GQ:PL	0/1:101,35:136:99:186,0,1683	6	0	1	0
chr12	123916480	123916480	C	A	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon62:c.C10392A:p.D3464E,DNAH10:NM_001372106:exon63:c.C10746A:p.D3582E	.	428	1031	62	1	0	64	0.0301035	.	.	.	3512179	DNAH10-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.237	.	0.0067	0.0109824	0.0116	0.0015	0.0033	0.0002	0.0015	0.0083	0.0157	0.0471	0.0105367	1629	154602	rs61745785	0.0097	0.0097	0.0083	0.0112	0.0478	0.0096	0.0095	0.0465	0.0460	0.0015	0.0038	0.0057	0.0001	0.0011	0.0297	0.0080	0.0098	0.0478	0.0062	0.0062	0.0057	0.0067	0.0459	0.0059	0.0058	0.0410	0.0390	0.0013	0.0066	0.0037	0.0058	0.0004	0.0016	0.0205	0.0081	0.0080	0.0459	.	.	.	.	.	.	0.998	0.73220	D	0.951	0.68939	D	0.000000	0.84330	D	0.000000	0.999047	0.45943	D	2.575	0.75298	M	.	.	.	.	.	.	.	.	-0.9593	0.39311	T	0.090	0.34518	T	10	0.008819342	0.00200	T	.	.	.	0.237	0.54074	0.399	0.42753	.	.	0.5668023242090957	0.56608	0.491414588271	0.47834	0.651649415493	0.60219	T	0.027816	0.20287	T	-0.415797	0.01820	T	-0.335732	0.40826	T	0.0198974521952076	0.00690	T	0.944506	0.78979	D	0.43194187	0.62879	0.34993237	0.60610	0.43194187	0.62880	0.34993237	0.60610	-9.784	0.72607	D	.	.	0.283	0.51592	B	.;.	.;.	4.087550	0.60855	24.3	0.99672905042637427	0.78717	0.91670	0.54014	D	AEFBI	0.654762	0.62733	D	0.611963586448856	0.73930	6.047201	0.514895579047583	0.68990	5.297094	0.0179896438730856	0.13010	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	4.74	3.72	0.41857	2.989000	0.49082	4.760000	0.44710	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.735000	0.35267	0.0:0.5625:0.0:0.4375	3.143	0.06073	730	0.54327	Dynein heavy chain, ATP-binding dynein motor region D5;Dynein heavy chain, ATP-binding dynein motor region D5	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017120	0.005051	0.013587	0.005848	0.050000	0.008621	0.021341	0.034091	0.07143	844.44	34	chr12	123916480	.	C	A	844.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.15;DP=287;ExcessHet=0;FS=5.121;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.36;ReadPosRankSum=-0.817;SOR=1.16	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr12	124012566	124012566	A	G	exonic	ZNF664	.	nonsynonymous SNV	ZNF664:NM_001204298:exon5:c.A422G:p.K141R,ZNF664:NM_152437:exon5:c.A422G:p.K141R	.	410	1021	91	0	0	91	0.0426629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	.	0.0055	0.0109824	0.0125	0.0008	0.0078	0	0.0011	0.0108	0.0188	0.0410	0.0112547	1740	154602	rs150362388	0.0088	0.0090	0.0078	0.0098	0.0396	0.0087	0.0086	0.0385	0.0380	0.0010	0.0061	0.0409	2.519e-05	0.0022	0.0243	0.0063	0.0130	0.0396	0.0067	0.0070	0.0060	0.0074	0.0446	0.0064	0.0062	0.0397	0.0378	0.0010	0.0618	0.0057	0.0414	0	0.0010	0.0204	0.0066	0.0066	0.0446	0.048	0.40068	D	0.05	0.48080	T	0.998	0.73220	D	0.956	0.69739	D	0.000711	0.42254	D	0.000000	0.995453	0.42699	D	0.47	0.13106	N	1.83	0.24841	T	-2.33	0.51646	N	0.019	0.00279	-1.0759	0.08164	T	0.069	0.28147	T	10	0.004956186	0.00106	T	.	.	.	0.164	0.42212	.	.	.	.	0.0231800799893291	0.02270	1.82181212601	0.91961	0.833988547325	0.87174	D	0.030176	0.21449	T	-0.433228	0.01418	T	-0.389105	0.34655	T	0.0161618254466552	0.00392	T	0.773923	0.40554	T	0.10536492	0.24911	0.120088995	0.28984	0.10536492	0.24911	0.120088995	0.28983	-6.775	0.52373	T	.	.	0.224	0.46458	B	.;.;.;.	.;.;.;.	3.907745	0.56965	23.8	0.99852841245123192	0.93191	0.97984	0.78636	D	AEFBI	0.688240	0.64931	D	0.467145638787452	0.65182	4.790512	0.456292471123958	0.65122	4.784035	0.999996081217093	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.25	4.25	0.49658	2.148000	0.41859	8.602000	0.77731	0.658000	0.54486	0.927000	0.32177	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	11.974	0.52370	749	0.51929	Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017623	0.005051	0.010870	0.014620	0.000000	0.008621	0.024390	0.045455	0.07143	415.44	33	chr12	124012566	.	A	G	415.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.064;DP=260;ExcessHet=0;FS=1.073;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.16;ReadPosRankSum=-0.412;SOR=0.52	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1057	6	0	1	0
chr12	128705277	128705277	G	A	exonic	TMEM132C	.	nonsynonymous SNV	TMEM132C:NM_001136103:exon9:c.G2309A:p.R770Q	.	.	.	.	.	.	.	.	.	.	.	3616761	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.093	0.00509770518498	.	.	5.005e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs758641133	4.788e-05	4.583e-05	5.5e-05	4.057e-05	0.0007	3.825e-05	3.497e-05	0.0003	0.0003	0.0005	0.0001	0	2.798e-05	4.066e-05	0.0007	3.429e-05	3.448e-05	1.262e-05	7.883e-05	7.879e-05	7.706e-05	8.069e-05	0.0002	4.496e-05	3.512e-05	0.0001	9.935e-05	0.0002	0	0	0	0	0	0	2.94e-05	0	0	0.025	0.47320	D	0.169	0.30534	T	0.719	0.42322	P	0.104	0.31021	B	0.004469	0.33710	N	0.121402	0.996942	0.43522	D	1.89	0.50145	L	2.31	0.16794	T	-2.33	0.51646	N	0.095	0.07535	-1.0549	0.13066	T	0.025	0.10733	T	10	0.10221028	0.18719	T	0.005098	0.12939	T	0.093	0.26882	.	.	0.043077524339	0.03247	0.41701676538065496	0.41617	0.179672211306	0.20209	0.353262394667	0.18401	T	0.018175	0.14695	T	-0.480818	0.00731	T	-0.559689	0.16406	T	0.108992323279381	0.13318	T	0.860814	0.55431	D	0.10402196	0.24589	0.109942585	0.26504	0.10402196	0.24588	0.109942585	0.26504	-7.828	0.59892	D	.	.	0.089	0.12181	B	.	.	3.384504	0.46828	22.4	0.99858529739070689	0.93729	0.73560	0.35981	D	AEFDBI	0.170513	0.29742	N	-0.0574941467746286	0.39267	2.312949	-0.036240821049298	0.38092	2.23932	1.94635759904319E-4	0.05898	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.84	2.7	0.31007	3.176000	0.50564	4.349000	0.43081	0.676000	0.76740	0.959000	0.33545	0.967000	0.29559	0.836000	0.39433	0.5508:0.0:0.4492:0.0	4.151	0.09704	994	0.00715	Transmembrane protein family 132, middle domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	63.44	37	chr12	128705277	.	G	A	63.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.967;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.15;ReadPosRankSum=0.967;SOR=1.179	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,116,1406	6	0	1	0
chr12	128810040	128810040	C	T	exonic	SLC15A4	.	nonsynonymous SNV	SLC15A4:NM_145648:exon3:c.G914A:p.G305E	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.431	0.066313857068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	2.987e-05	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.575	0.75298	M	3.6	0.04494	T	-6.49	0.91564	D	0.828	0.82358	-0.6553	0.62482	T	0.280	0.65189	T	10	0.90304184	0.89667	D	0.066314	0.69838	D	0.431	0.73735	0.733	0.86633	0.51721326083	0.51363	0.8298247170403579	0.82940	1.56346223349	0.88073	0.57704102993	0.49669	T	0.212756	0.57389	T	0.225008	0.76249	D	0.0854323	0.75940	D	0.995441436767578	0.87437	D	0.880212	0.59782	D	0.9425532	0.95508	0.95511883	0.98700	0.9425532	0.95508	0.95511883	0.98700	-12.426	0.86865	D	.	.	0.926	0.84705	P	.	.	5.157288	0.86402	28.9	0.99778509218951772	0.86519	0.96670	0.70316	D	AEFGBCI	0.834921	0.75290	D	0.618113023109215	0.74320	6.11274	0.614883770884605	0.76020	6.414753	0.999999999999999	0.74766	0.732398	0.92422	0	0.672317	0.65289	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.26	5.26	0.73479	6.968000	0.75873	4.741000	0.44606	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	19.217	0.93770	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1589.45	35	chr12	128810040	.	C	T	1589.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.47;DP=318;ExcessHet=0;FS=0.616;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=0.413;SOR=0.751	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1121	6	0	1	0
chr12	128814890	128814890	C	T	exonic	SLC15A4	.	nonsynonymous SNV	SLC15A4:NM_145648:exon2:c.G727A:p.G243S	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	0.0267860072239	0.0029	0.00119808	0.0029	0.0009	0.0003	0	0.0015	0.0042	0.0022	0.0027	0.0030013	464	154602	rs35580712	0.0036	0.0036	0.0036	0.0036	0.0042	0.0035	0.0035	0.0041	0.0041	0.0006	0.0011	0.0007	5.038e-05	0.0020	0.0009	0.0042	0.0032	0.0025	0.0024	0.0024	0.0023	0.0024	0.0037	0.0022	0.0021	0.0033	0.0032	0.0007	0	0.0018	0.0017	0.0002	0.0033	0	0.0037	0.0033	0.0015	0.065	0.36310	T	0.018	0.59732	D	0.624	0.40023	P	0.297	0.40924	B	0.000000	0.84330	D	0.046590	1	0.81001	D	2.94	0.84723	M	2.6	0.13204	T	-2.48	0.54059	N	0.275	0.31140	-1.1584	0.00796	T	0.040	0.17020	T	10	0.008869767	0.00201	T	0.026786	0.49666	D	0.281	0.59861	.	.	0.356484672536	0.35262	0.8225520409458024	0.82212	0.722186724594	0.62265	0.560724377632	0.47370	T	0.193677	0.54921	T	-0.18933	0.22355	T	-0.039609	0.67728	D	0.102423645555973	0.12622	T	0.775622	0.40735	T	0.28054446	0.51102	0.28978038	0.54999	0.28054446	0.51101	0.28978038	0.54998	-4.734	0.33813	T	.	.	0.225	0.45629	B	.	.	2.944430	0.39164	20.9	0.99720067916859323	0.81984	0.94457	0.61227	D	AEFDBCI	0.668547	0.63629	D	0.323898286552336	0.57377	3.904836	0.360382170206609	0.59136	4.088958	0.999999999999999	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	4.421000	0.59598	3.919000	0.40458	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.170000	0.20979	0.0:1.0:0.0:0.0	18.785	0.91914	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.07143	1443.44	57	chr12	128814890	.	C	T	1443.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.377;DP=403;ExcessHet=0;FS=3.266;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-0.906;SOR=0.528	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	6	0	1	0
chr12	128914983	128914983	C	T	exonic	GLT1D1	.	nonsynonymous SNV	GLT1D1:NM_001366887:exon5:c.C337T:p.R113C,GLT1D1:NM_001366886:exon6:c.C463T:p.R155C,GLT1D1:NM_001366889:exon7:c.C511T:p.R171C	.	434	1081	6	1	0	8	0.00368664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0588680807464	.	0.00159744	0.0038	0.0018	0	0	0	0.0036	0	0.0043	0.0008861	137	154602	rs79317403	0.0036	0.0034	0.0035	0.0036	0.0040	0.0035	0.0035	0.0039	0.0039	0.0004	0.0011	0.0010	5.599e-05	0.0018	0.0019	0.0040	0.0032	0.0037	0.0024	0.0024	0.0023	0.0025	0.0037	0.0022	0.0021	0.0034	0.0032	0.0005	0	0.0020	0.0017	0.0002	0.0031	0	0.0037	0.0028	0.0029	0.055	0.40832	T	0.131	0.36630	T	0.042	0.21471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.95	0.52479	M	-1.29	0.79475	T	-1.88	0.45949	N	0.151	0.18239	-0.7969	0.55327	T	0.280	0.65159	T	8	0.0048719943	0.00104	T	0.058868	0.67466	D	0.123	0.34020	.	.	0.132336055621	0.12781	.	.	.	.	.	.	.	0.023808	0.18107	T	-0.452971	0.01085	T	-0.419712	0.31107	T	0.00372698561778221	0.00039	T	0.743426	0.36288	T	0.068533234	0.14937	0.048810787	0.07329	0.068533234	0.14937	0.048810787	0.07328	-5.176	0.38697	T	.	.	0.071	0.09094	B	.;.	.;.	1.168331	0.15580	11.95	0.91454915598856867	0.20725	0.14231	0.18293	N	AEFDGBHCI	0.072715	0.14521	N	-1.00069423350754	0.08589	0.4033189	-1.05438465293318	0.08616	0.4244913	0.999688917972607	0.41756	0.487112	0.14033	0	0.68618	0.66647	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.05	0.621	0.16817	0.016000	0.13272	-1.896000	0.04535	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2226:0.4663:0.0:0.311	3.357	0.06754	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1068.63	34	chr12	128914983	.	C	T	1068.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.66;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=0.469;SOR=0.641	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1267	6	0	1	0
chr12	131849915	131849915	A	G	exonic	MMP17	.	nonsynonymous SNV	MMP17:NM_016155:exon9:c.A1318G:p.N440D	.	427	1083	12	0	0	12	0.00550964	.	.	.	724989	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.143	.	0.0072	0.0061901	0.0049	0.0107	0.0048	0	0.0023	0.0058	0.0089	0.0015	0.0049611	767	154602	rs139162290	0.0045	0.0045	0.0047	0.0044	0.0175	0.0044	0.0044	0.0147	0.0137	0.0105	0.0054	0.0078	2.519e-05	0.0027	0.0175	0.0045	0.0069	0.0014	0.0066	0.0066	0.0070	0.0063	0.0105	0.0063	0.0062	0.0093	0.0090	0.0101	0.0570	0.0105	0.0072	0	0.0028	0.0068	0.0043	0.0114	0.0008	0.248	0.48642	T	0.035	0.52389	D	0.886	0.48745	P	0.68	0.53472	P	0.000000	0.84330	D	0.000000	0.999398	0.81001	D	1.505	0.38159	L	2.16	0.19166	T	-4.07	0.78388	D	0.38	0.42541	-1.1411	0.01318	T	0.051	0.21650	T	10	0.00799194	0.00181	T	.	.	.	0.143	0.38195	.	.	0.450539155747	0.44678	0.7420346890705607	0.74149	0.269835438501	0.29508	0.504001259804	0.39385	T	0.165505	0.51138	T	-0.546058	0.00308	T	-0.547756	0.17541	T	0.0944945066890397	0.11740	T	0.849215	0.53152	T	0.5497218	0.69940	0.47569257	0.69618	0.5497218	0.69941	0.47569257	0.69618	-12.48	0.88103	D	.	.	0.113	0.40015	B	.;.;.;.	.;.;.;.	3.288126	0.45079	22.1	0.99633114491927033	0.76142	0.97061	0.72463	D	AEFDBI	0.721766	0.67191	D	0.280012812324219	0.55137	3.677929	0.266853700865674	0.53614	3.529511	0.926956279998203	0.26870	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.6	3.44	0.38486	6.145000	0.71533	4.335000	0.43039	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8367:0.0:0.1633:0.0	8.326	0.31317	982	0.03397	Hemopexin-like domain;.;Hemopexin-like domain;Hemopexin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020645	0.040404	0.024457	0.026316	0.000000	0.008621	0.009146	0.000000	0.07143	1205.49	43	chr12	131849915	.	A	G	1205.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.648;DP=284;ExcessHet=0;FS=0.749;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=0.911;SOR=0.612	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr12	131851123	131851123	C	T	exonic	MMP17	.	nonsynonymous SNV	MMP17:NM_016155:exon10:c.C1661T:p.S554L	.	.	.	.	.	.	.	.	.	.	.	2207497	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.0272953610451	.	.	0.0001	0	0	0	0	8.665e-05	0	0.0007	7.12e-05	11	154602	rs755261675	5.504e-05	5.609e-05	3.597e-05	7.44e-05	0.0004	4.492e-05	4.158e-05	0.0003	0.0003	0	0	0	0	0	0.0002	3.637e-05	3.376e-05	0.0004	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.1	0.61437	T	0.161	0.61642	T	0.491	0.36960	P	0.036	0.22909	B	0.033767	0.01776	N	2.893580	0.757454	0.35026	D	1.845	0.48678	L	2.28	0.17271	T	-1.46	0.38540	N	0.167	0.23125	-1.0201	0.23682	T	0.026	0.11264	T	10	0.07742441	0.12217	T	0.027295	0.50125	D	0.075	0.21907	0.213	0.13210	0.395441342475	0.39163	0.4451381404140394	0.44431	0.257231272302	0.28296	0.59388589859	0.52042	T	0.19371	0.54926	T	-0.374849	0.03356	T	-0.468805	0.25646	T	0.134155750274658	0.15760	T	0.824718	0.48674	T	0.09654902	0.22744	0.09523757	0.22578	0.09654902	0.22744	0.09523757	0.22577	-3.047	0.14537	T	.	.	0.104	0.32469	B	.;.;.	.;.;.	3.358363	0.46356	22.3	0.99634743818733473	0.76264	0.61493	0.31500	D	AEFBCI	0.625784	0.60885	D	-0.514481250124486	0.21611	1.148175	-0.454483028560008	0.23422	1.277209	0.99999999822426	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.98	4.09	0.47038	4.616000	0.60900	3.030000	0.36038	0.531000	0.24825	0.747000	0.29101	0.057000	0.21958	0.643000	0.32503	0.0:0.9221:0.0:0.0779	13.133	0.58809	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	918.49	72	chr12	131851123	.	C	T	918.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.367;DP=252;ExcessHet=0;FS=1.964;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=2;SOR=0.926	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1086	6	0	1	0
chr12	131916513	131916513	C	T	exonic	ULK1	.	nonsynonymous SNV	ULK1:NM_003565:exon20:c.C1994T:p.S665L	.	424	1097	0	1	0	2	0.000910747	.	.	.	717943	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.079	0.00538797856413	0.0018	0.000998403	0.0018	0.0003	0.0006	0.0001	0.0005	0.0028	0.0034	0.0007	0.0017464	270	154602	rs55815560	0.0024	0.0024	0.0023	0.0024	0.0026	0.0023	0.0023	0.0025	0.0025	0.0003	0.0004	0.0092	0.0005	0.0007	0.0005	0.0026	0.0023	0.0010	0.0017	0.0017	0.0019	0.0014	0.0027	0.0015	0.0014	0.0023	0.0022	0.0005	0	0.0003	0.0092	0.0006	0.0008	0	0.0027	0.0005	0.0006	0.074	0.34621	T	0.273	0.22154	T	0.002	0.09854	B	0.001	0.04355	B	0.936898	0.07569	N	1.033790	1	0.20152	N	0.69	0.16971	N	1.57	0.29342	T	-1.8	0.42384	N	0.378	0.41952	-1.0972	0.04447	T	0.047	0.20235	T	10	0.0068562925	0.00156	T	0.005388	0.13832	T	0.079	0.23065	.	.	0.151262610727	0.14761	0.13528880461995071	0.13452	0.0941212502149	0.10624	0.456293880939	0.32803	T	0.224216	0.58859	T	-0.491788	0.00635	T	-0.485054	0.23910	T	0.012311298934835	0.00200	T	0.929807	0.74042	D	0.06279258	0.13153	0.0824346	0.18813	0.06279258	0.13152	0.0824346	0.18813	-5.041	0.37282	T	.	.	0.098	0.16319	B	.	.	3.446149	0.47969	22.5	0.99445507344803163	0.64971	0.75164	0.36790	D	AEFDBCI	0.181063	0.30838	N	-0.237196397309404	0.31618	1.77469	-0.125476394804576	0.34365	1.976027	0.824564728935087	0.24584	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.69	3.79	0.42757	1.853000	0.38998	5.036000	0.46868	0.599000	0.40250	0.904000	0.31524	1.000000	0.68203	0.024000	0.12247	0.365:0.5069:0.1281:0.0	7.836	0.28533	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001512	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	863.63	37	chr12	131916513	.	C	T	863.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.92;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=0.607;SOR=0.62	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1020	6	0	1	0
chr12	131921220	131921220	G	A	exonic	ULK1	.	nonsynonymous SNV	ULK1:NM_003565:exon27:c.G3082A:p.E1028K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.0732706279681	.	0.000599042	0.0002	0	0.0002	0.0006	0.0006	0.0001	0	0.0004	0.0001876	29	154602	rs147255549	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0008	0.0007	2.987e-05	0.0001	0	0.0010	0.0009	0	0.0001	0.0001	0.0004	0.0002	0.0002	8.994e-05	0.0002	0.0012	0.0001	8.711e-05	0.0005	0.0003	7.215e-05	0	0.0005	0	0.0012	0.0002	0	5.881e-05	0.0005	0	0.308	0.14111	T	0.563	0.09022	T	0.994	0.66517	D	0.734	0.55432	P	0.002002	0.37457	N	0.233506	0.998911	0.81001	D	2.19	0.61577	M	0.97	0.42502	T	-1.66	0.39692	N	0.677	0.68429	-0.3179	0.74480	T	0.352	0.71596	T	10	0.25222147	0.42573	T	0.073271	0.71746	D	0.164	0.42212	.	.	0.295975759948	0.29207	0.24827546023967714	0.24741	0.48005323833	0.47028	0.592886030674	0.51901	T	0.190132	0.54458	T	-0.234317	0.16081	T	-0.244355	0.50372	T	0.248365134000778	0.22799	T	0.975902	0.91565	D	0.07467611	0.16774	0.11415609	0.27554	0.07467611	0.16774	0.11415609	0.27553	-7.097	0.54739	T	.	.	0.120	0.24700	B	.	.	3.961012	0.58095	23.9	0.99909642818984024	0.97949	0.94015	0.59857	D	AEFGBHCI	0.853381	0.77033	D	0.367086382370248	0.59646	4.145917	0.391628305893217	0.61046	4.299629	0.999999797816741	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.03	5.03	0.67015	7.262000	0.77815	11.597000	0.93447	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.351000	0.25682	0.0:0.0:1.0:0.0	18.726	0.91676	976	0.04745	Serine/threonine-protein kinase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1110.49	33	chr12	131921220	.	G	A	1110.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.37;DP=279;ExcessHet=0;FS=0.766;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-0.37;SOR=0.629	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1181	6	0	1	0
chr12	132011564	132011564	A	C	exonic	EP400	.	nonsynonymous SNV	EP400:NM_015409:exon16:c.A3371C:p.K1124T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.898	0.582408831535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999946	0.58761	D	.	.	.	-3.18	0.93111	D	-5.26	0.84105	D	0.643	0.65501	1.009	0.97347	D	0.896	0.96558	D	10	0.8604413	0.85260	D	0.582409	0.96262	D	0.898	0.97135	.	.	0.760380764633	0.75819	0.897918227211768	0.89762	0.536651038253	0.50994	0.756912350655	0.75470	T	.	.	.	0.285466	0.81779	D	0.172275	0.81544	D	0.996360838413239	0.89195	D	0.958304	0.84304	D	.	.	.	.	.	.	.	.	-12.716	0.88159	D	.	.	0.867	0.80717	P	.;.	.;.	3.804409	0.54833	23.5	0.98389096989607039	0.40936	0.99315	0.94380	D	AEFBI	0.847028	0.76389	D	0.865758159505899	0.89987	10.20322	0.811629169526085	0.90592	10.477	0.999998210858832	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	9.176000	0.93972	9.282000	0.79722	0.677000	0.82338	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.039	0.71434	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	309.27	26	chr12	132011564	.	A	C	309.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.03;DP=193;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-1.21;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,994	5	0	1	1
chr12	132490772	132490774	CGC	-	exonic	FBRSL1	.	nonframeshift deletion	FBRSL1:NM_001142641:exon1:c.202_204del:p.R72del,FBRSL1:NM_001367871:exon1:c.202_204del:p.R72del,FBRSL1:NM_001382739:exon1:c.202_204del:p.R72del,FBRSL1:NM_001382740:exon1:c.202_204del:p.R72del,FBRSL1:NM_001382741:exon1:c.202_204del:p.68_68del,FBRSL1:NM_001382743:exon1:c.202_204del:p.R72del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0042	.	0.0065	0	0	0	.	0.0025	0	0.0090	6.5e-06	1	154602	rs759479008	0.0003	0.0046	0.0002	0.0003	0.0017	0.0002	0.0002	0.0010	0.0007	0.0004	0.0017	0.0005	0.0007	0.0017	0.0007	0.0002	0.0004	0.0009	6.699e-06	5.265e-05	1.308e-05	0	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	37.79	12	chr12	132490771	.	GCGC	G	37.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.449;DP=149;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.7;ReadPosRankSum=1.37;SOR=0.446	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,959	6	0	1	0
chr12	132626154	132626154	C	T	exonic	POLE	.	nonsynonymous SNV	POLE:NM_006231:exon46:c.G6494A:p.R2165H	FILS syndrome, Autosomal recessive	433	1029	57	3	0	63	0.029703	.	.	.	222211	Hereditary_cancer-predisposing_syndrome|not_specified|not_provided|Colorectal_cancer,_susceptibility_to,_12	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014038,MedGen:C3554460,OMIM:615083,Orphanet:220460	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.259	.	0.0068	0.00978435	0.0092	0.0123	0.0048	0.0169	0.0009	0.0064	0.0192	0.0178	0.0058408	903	154602	rs5745068	0.0045	0.0045	0.0041	0.0048	0.0309	0.0044	0.0043	0.0271	0.0256	0.0088	0.0029	0.0093	0.0057	0.0004	0.0309	0.0034	0.0071	0.0144	0.0057	0.0057	0.0055	0.0060	0.0108	0.0054	0.0053	0.0085	0.0077	0.0082	0.0011	0.0052	0.0084	0.0108	0.0002	0.0170	0.0043	0.0085	0.0104	0.035	0.43708	D	0.05	0.48080	T	0.993	0.65571	D	0.616	0.51268	P	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	3.29	0.90338	M	1.86	0.24285	T	-3.7	0.70553	D	0.633	0.64648	-0.8366	0.52871	T	0.096	0.36081	T	10	0.011993051	0.00260	T	.	.	.	0.259	0.57090	.	.	0.517432700143	0.51384	0.5751870939627702	0.57447	0.58252265955	0.54005	0.542047679424	0.44735	T	0.703579	0.91486	D	-0.347488	0.04887	T	-0.260242	0.48800	T	0.0424953375228143	0.04145	T	0.962504	0.85970	D	0.37450618	0.58915	0.16561173	0.38303	0.45453155	0.64329	0.18027803	0.40816	-5.607	0.42856	T	0.4042567981621327	0.49558	0.135	0.37914	B	.;.	.;.	4.019289	0.59351	24.1	0.99945681444665291	0.99901	0.96744	0.70707	D	AEFDBI	0.775560	0.70893	D	0.557586679574714	0.70546	5.517285	0.492725804327581	0.67508	5.093279	0.999999999939494	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	4.81	3.92	0.44525	5.919000	0.69736	2.207000	0.31336	0.599000	0.40250	1.000000	0.71638	0.978000	0.30204	0.854000	0.40426	0.0:0.9229:0.0:0.0771	13.228	0.59351	789	0.46346	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.029263	0.030303	0.020380	0.029240	0.050000	0.017241	0.033742	0.026515	0.1667	1060.92	20	chr12	132626154	.	C	T	1060.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.811;DP=212;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-0.195;SOR=0.67	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1240	4	0	2	1
chr12	132853526	132853526	G	A	exonic	CHFR	.	nonsynonymous SNV	CHFR:NM_001161347:exon9:c.C1037T:p.A346V,CHFR:NM_001161344:exon11:c.C1313T:p.A438V,CHFR:NM_001161345:exon11:c.C1313T:p.A438V,CHFR:NM_001161346:exon11:c.C1277T:p.A426V,CHFR:NM_018223:exon11:c.C1190T:p.A397V	.	419	1090	12	1	0	14	0.00638104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00187130817257	7.9e-05	.	0.0003	0	0	0	0	0	0	0.0008	0.0001229	19	154602	rs374229656	0.0001	0.0001	0.0001	0.0002	0.0018	0.0001	0.0001	0.0010	0.0009	3.325e-05	0	0	0	0	0.0018	5.122e-05	0.0004	0.0012	6.566e-05	6.562e-05	2.569e-05	0.0001	0.0008	3.514e-05	2.614e-05	0.0003	0.0002	0	0	6.534e-05	0	0	0	0	5.882e-05	0.0005	0.0008	0.191	0.21066	T	0.449	0.12993	T	0.003	0.11197	B	0.002	0.12133	B	0.580503	0.05532	N	1.192850	1	0.08975	N	1.185	0.30054	L	2.21	0.18414	T	-1.09	0.31778	N	0.118	0.11054	-1.0307	0.20227	T	0.039	0.16806	T	10	0.01057899	0.00235	T	0.001871	0.03272	T	0.024	0.04979	.	.	0.21174354426	0.20776	0.19898332308447045	0.19815	0.355335991754	0.37297	0.306828260422	0.11427	T	0.108948	0.42240	T	-0.644607	0.00078	T	-0.739243	0.03922	T	0.0122134965699735	0.00196	T	0.531447	0.17660	T	0.061637983	0.12786	0.050694257	0.08007	0.061637983	0.12785	0.050694257	0.08006	-4.237	0.31856	T	.	.	0.059	0.02960	B	.;.;.;.	.;.;.;.	-0.188898	0.03147	0.509	0.48238702243689113	0.04009	0.02353	0.06713	N	AEFBHI	0.044286	0.07105	N	-1.80230655750823	0.00539	0.02322983	-1.87651312526596	0.00544	0.02414004	0.996438412244953	0.34743	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.39	-5.95	0.02054	0.221000	0.17463	-0.006000	0.13130	-1.837000	0.00584	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.367:0.1758:0.3682:0.089	3.122	0.06010	952	0.10565	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	919.44	34	chr12	132853526	.	G	A	919.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.094;DP=260;ExcessHet=0;FS=3.046;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=0.388;SOR=0.825	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1161	6	0	1	0
chr12	133057131	133057131	A	G	exonic	ZNF84	.	nonsynonymous SNV	ZNF84:NM_001127372:exon5:c.A416G:p.H139R,ZNF84:NM_001289971:exon5:c.A416G:p.H139R,ZNF84:NM_001289972:exon5:c.A416G:p.H139R,ZNF84:NM_003428:exon5:c.A416G:p.H139R	.	437	1040	43	2	0	47	0.0220969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00447556693994	.	.	.	.	.	.	.	.	.	.	0.0009444	146	154602	rs34737533	0.0090	0.0090	0.0083	0.0096	0.0264	0.0088	0.0088	0.0255	0.0251	0.0013	0.0020	0.0211	5.043e-05	0.0117	0.0153	0.0080	0.0088	0.0264	0.0062	0.0062	0.0059	0.0065	0.0253	0.0059	0.0057	0.0216	0.0203	0.0013	0	0.0018	0.0248	0	0.0106	0.0136	0.0077	0.0047	0.0253	0.114	0.28646	T	0.242	0.24264	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	0.695	0.17993	N	3.28	0.06523	T	-1.93	0.48020	N	0.106	0.09914	-0.9089	0.46989	T	0.011	0.04181	T	9	0.00363034	0.00066	T	0.004476	0.10969	T	0.034	0.08419	0.324	0.30549	0.0884992946249	0.08302	0.024537132809481346	0.02404	.	.	0.391508877277	0.23882	T	0.023923	0.22444	T	-0.28398	0.10251	T	-0.645694	0.09259	T	0.0269218725694647	0.01533	T	0.00476952	0.20971	T	0.10477009	0.24768	0.11534372	0.27843	0.10477009	0.24768	0.11534372	0.27842	-5.897	0.45410	T	.	.	0.119	0.24498	B	.;.;.;.;.	.;.;.;.;.	1.430539	0.18485	13.76	0.81679202589218514	0.13806	0.05815	0.11754	N	AEFGBI	0.065066	0.12669	N	-0.815567604091794	0.12913	0.63255	-0.763042789295934	0.15402	0.8098858	0.00987751702512974	0.11927	0.562547	0.31514	0	0.614415	0.52539	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	2.4	1.25	0.20475	0.055000	0.14112	0.928000	0.22757	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.8275:0.0:0.1725:0.0	4.153	0.09711	884	0.28482	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1367.45	34	chr12	133057131	.	A	G	1367.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.608;DP=339;ExcessHet=0;FS=3.092;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=1.39;SOR=0.837	GT:AD:DP:GQ:PL	0/1:73,62:135:99:1378,0,1892	6	0	1	0
chr12	133121017	133121017	G	A	exonic	ZNF891	.	nonsynonymous SNV	ZNF891:NM_001277291:exon2:c.C902T:p.T301M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	.	0.000199681	0.0022	0	0.0096	0	.	0	0.025	0.0027	0.0001617	25	154602	rs184188224	0.0002	0.0002	0.0002	0.0003	0.0025	0.0002	0.0002	0.0021	0.0020	0.0002	0.0025	7.944e-05	0	0	0.0004	3.43e-05	0.0002	0.0024	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	0.0002	0	0.0011	0.0006	0	0	0	1.47e-05	0	0.0021	0.058	0.37750	T	0.124	0.35455	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.06538	N	3.28	0.06523	T	-0.7	0.19933	N	0.154	0.15888	-0.9938	0.31617	T	0.013	0.04843	T	5	0.0071231723	0.00162	T	.	.	.	0.006	0.00375	.	.	0.043077524339	0.03247	0.03715907084406774	0.03662	0.0285135684416	0.02934	0.22306625545	0.01494	T	0.00579	0.05238	T	-0.668913	0.00056	T	-0.736989	0.04019	T	0.0108113122875222	0.00153	T	0.134587	0.01064	T	0.016133105	0.00178	0.03605774	0.02977	0.016133105	0.00178	0.03605774	0.02977	-5.207	0.39013	T	.	.	0.108	0.20313	B	.	.	1.133771	0.15208	11.67	0.6919664740357363	0.08895	0.03510	0.08688	N	AEFBHI	0.037759	0.05242	N	-0.726861287964368	0.15269	0.7680553	-0.948577113404665	0.10956	0.555196	4.60098605879763E-4	0.07036	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	3.54	-2.02	0.06981	-0.646000	0.05501	-0.512000	0.08740	-0.273000	0.06669	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.2911:0.0:0.4021:0.3068	3.252	0.06415	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2161.44	35	chr12	133121017	.	G	A	2161.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.8;DP=395;ExcessHet=0;FS=1.123;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.368;SOR=0.8	GT:AD:DP:GQ:PL	0/1:118,82:200:99:2172,0,2865	6	0	1	0
chr12	133121791	133121791	A	G	exonic	ZNF891	.	nonsynonymous SNV	ZNF891:NM_001277291:exon2:c.T128C:p.M43T	.	431	1057	33	1	0	35	0.0162866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	.	.	0.00399361	0.0171	0.0040	0.0051	0	0.0284	0.0135	0.0052	0.0193	0.0028395	439	154602	rs11147241	0.0071	0.0068	0.0068	0.0075	0.0159	0.0070	0.0069	0.0152	0.0149	0.0009	0.0037	0.0231	5.597e-05	0.0236	0.0132	0.0060	0.0074	0.0159	0.0067	0.0067	0.0057	0.0078	0.0141	0.0064	0.0062	0.0114	0.0104	0.0006	0	0.0048	0.0213	0.0002	0.0253	0.0136	0.0073	0.0066	0.0141	0.003	0.68238	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1.735	0.44892	L	4.67	0.01735	T	-1.27	0.31981	N	0.303	0.34228	-1.0652	0.10502	T	0.010	0.03537	T	5	0.0045554936	0.00094	T	.	.	.	0.108	0.30607	.	.	0.043077524339	0.03247	0.10339948176292266	0.10269	0.0205511460022	0.02023	0.261319935322	0.05049	T	0.006881	0.06306	T	-0.5581	0.00261	T	-0.560823	0.16299	T	0.0170166397133512	0.00450	T	0.910809	0.68393	D	0.52541	0.68569	0.42895132	0.66593	0.52541	0.68570	0.42895132	0.66593	-5.486	0.41737	T	.	.	0.617	0.69559	P	.	.	2.194521	0.27984	17.65	0.97262635867247871	0.33098	0.16088	0.19225	N	AEFBI	0.066787	0.13095	N	-0.126146370739987	0.36257	2.093278	-0.190241992970159	0.31895	1.809316	0.0900386912113356	0.16099	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.05	4.05	0.46415	1.244000	0.32381	4.555000	0.43818	0.756000	0.94297	0.001000	0.13787	0.198000	0.23548	0.868000	0.41282	1.0:0.0:0.0:0.0	11.028	0.46973	856	0.34373	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	823.44	85	chr12	133121791	.	A	G	823.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.196;DP=283;ExcessHet=0;FS=0.825;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=0.28;SOR=0.822	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr13	19633783	19633783	C	G	exonic	MPHOSPH8	.	nonsynonymous SNV	MPHOSPH8:NM_017520:exon1:c.C35G:p.A12G	.	411	1107	4	0	0	4	0.00180343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.0212192905689	0.0012	0.000998403	0.0027	0.0009	0.0005	0	0.0045	0.0036	0.0023	0.0029	0.0013648	211	154602	rs146735121	0.0015	0.0015	0.0014	0.0016	0.0025	0.0014	0.0014	0.0022	0.0021	2.995e-05	0.0002	7.725e-05	0	0.0031	0.0013	0.0015	0.0008	0.0025	0.0012	0.0013	0.0013	0.0012	0.0021	0.0011	0.0010	0.0018	0.0017	0.0002	0	6.533e-05	0	0	0.0027	0	0.0021	0.0009	0.0008	0.002	0.72154	D	0.023	0.57104	D	0.001	0.07471	B	0.001	0.04355	B	0.267291	0.03749	N	1.511360	1	0.08975	N	2.045	0.56016	M	1.01	0.41058	T	-0.99	0.26200	N	0.242	0.27316	-1.0129	0.26007	T	0.082	0.32353	T	10	0.00494346	0.00106	T	0.021219	0.43954	T	0.032	0.07718	.	.	0.370276754211	0.36643	0.14221635104878683	0.14144	0.312254783512	0.33525	0.498719632626	0.38649	T	0.02073	0.16269	T	-0.565944	0.00234	T	-0.588766	0.13773	T	0.0343777376467973	0.02701	T	0.466353	0.13696	T	0.16632646	0.36961	0.1998389	0.43886	0.16632646	0.36960	0.1998389	0.43885	-3.88	0.22002	T	.	.	0.097	0.15743	B	.	.	1.545946	0.19817	14.45	0.98258569866304224	0.39639	0.91085	0.52830	D	ALL	0.080626	0.16304	N	-0.826091289741176	0.12645	0.6177178	-0.852657992635454	0.13224	0.6848221	0.999999990107616	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.76	1.99	0.25423	0.871000	0.27675	0.190000	0.15733	0.524000	0.24156	0.003000	0.16062	0.000000	0.08366	0.016000	0.10718	0.1412:0.5774:0.1371:0.1443	3.231	0.06349	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002024	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.011364	0.07143	1184.44	34	chr13	19633783	.	C	G	1184.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.435;DP=305;ExcessHet=0;FS=2.379;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=-0.567;SOR=0.943	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1102	6	0	1	0
chr13	20067005	20067005	A	G	exonic	ZMYM2	.	nonsynonymous SNV	ZMYM2:NM_001190965:exon20:c.A3287G:p.D1096G,ZMYM2:NM_001353157:exon20:c.A3287G:p.D1096G,ZMYM2:NM_001353159:exon20:c.A3287G:p.D1096G,ZMYM2:NM_001353164:exon20:c.A3287G:p.D1096G,ZMYM2:NM_001353165:exon20:c.A3287G:p.D1096G,ZMYM2:NM_197968:exon20:c.A3287G:p.D1096G,ZMYM2:NM_001190964:exon21:c.A3287G:p.D1096G,ZMYM2:NM_001353163:exon21:c.A3026G:p.D1009G,ZMYM2:NM_003453:exon21:c.A3287G:p.D1096G,ZMYM2:NM_001353161:exon22:c.A3092G:p.D1031G,ZMYM2:NM_001353162:exon22:c.A3287G:p.D1096G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.00736699327168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.17014	T	0.039	0.21116	B	0.034	0.22546	B	0.048217	0.23273	N	0.506031	0.966424	0.38529	D	1.32	0.33002	L	2.24	0.17923	T	.	.	.	0.276	0.31253	-1.0546	0.13145	T	0.026	0.10998	T	10	0.18629909	0.34089	T	0.007367	0.19550	T	0.068	0.19811	0.368	0.37687	0.215239754934	0.21150	0.28364028923248596	0.28277	.	.	0.424404859543	0.28442	T	0.219482	0.58250	T	-0.128323	0.31766	T	-0.422104	0.30835	T	0.571670711040497	0.35298	D	0.921108	0.71398	D	0.15860735	0.35674	0.16575657	0.38329	0.15860735	0.35674	0.16575657	0.38328	-4.617	0.32385	T	.	.	0.110	0.21011	B	.;.;.	.;.;.	4.307590	0.65821	24.9	0.99089795845772322	0.52173	0.98976	0.89428	D	AEFBI	0.610945	0.59958	D	-0.18735969020094	0.33660	1.912202	0.0278189492474396	0.41011	2.456834	0.994192364212022	0.33529	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	5.612000	0.67362	11.240000	0.90396	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	13.620	0.61604	793	0.45818	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr13	20067005	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=196;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1243	6	1	0	0
chr13	20142949	20142949	-	CTC	exonic	GJA3	.	nonframeshift insertion	GJA3:NM_021954:exon2:c.339_340insGAG:p.E113_Q114insE	Cataract 14, multiple types, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	137.4	38	chr13	20142949	.	G	GCTC	137.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.792;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.63;ReadPosRankSum=1.37;SOR=0.368	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1106	6	0	1	0
chr13	20189125	20189125	C	T	exonic	GJB2	.	nonsynonymous SNV	GJB2:NM_004004:exon2:c.G457A:p.V153I	Bart-Pumphrey syndrome, Autosomal dominant;Deafness, autosomal dominant 3A, Autosomal dominant;Deafness, autosomal recessive 1A, Autosomal recessive, Digenic dominant;Hystrix-like ichthyosis with deafness, Autosomal dominant;Keratitis-ichthyosis-deafness syndrome, Autosomal dominant;Keratoderma, palmoplantar, with deafness, Autosomal dominant;Vohwinkel syndrome, Autosomal dominant	0	1428	89	5	0	99	0.0335025	.	.	YES	53921	not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_1A|Autosomal_dominant_nonsyndromic_hearing_loss_3A|Hearing_loss,_autosomal_recessive|Nonsyndromic_genetic_hearing_loss|Ichthyosis,_hystrix-like,_with_hearing_loss|not_provided|Mutilating_keratoderma|X-linked_mixed_hearing_loss_with_perilymphatic_gusher|Autosomal_dominant_keratitis-ichthyosis-hearing_loss_syndrome|Palmoplantar_keratoderma-deafness_syndrome|Knuckle_pads,_deafness_AND_leukonychia_syndrome	MedGen:CN169374|MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290,Orphanet:90636|MONDO:MONDO:0011103,MedGen:C2675750,OMIM:601544,Orphanet:90635|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636|MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884|MONDO:MONDO:0011245,MedGen:C1865234,OMIM:602540,Orphanet:477|MedGen:C3661900|MONDO:MONDO:0007422,MedGen:C0265964,OMIM:124500,Orphanet:494|MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400,Orphanet:383|MONDO:MONDO:0007850,MedGen:C0265336,OMIM:148210,Orphanet:477|MONDO:MONDO:0007852,MedGen:C1835672,OMIM:148350,Orphanet:2202|MONDO:MONDO:0007866,MedGen:C0266004,OMIM:149200,Orphanet:2698	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.384	.	0.0022	0.0131789	0.0106	0.0003	0.0021	0.0001	0.0027	0.0045	0.0133	0.0559	0.0093789	1450	154602	rs111033186	0.0056	0.0056	0.0039	0.0073	0.0532	0.0055	0.0055	0.0519	0.0514	0.0004	0.0015	0.0125	0.0002	0.0024	0.0130	0.0023	0.0065	0.0532	0.0041	0.0041	0.0033	0.0049	0.0537	0.0038	0.0037	0.0483	0.0463	0.0002	0	0.0018	0.0112	0.0002	0.0011	0.0068	0.0039	0.0024	0.0537	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.007	0.12992	B	0.002985	0.35606	N	0.194247	0.81569	0.34703	D	-0.305	0.03614	N	-3.69	0.95317	D	0.21	0.04776	N	0.037	0.01347	-0.1897	0.77935	T	0.500	0.81081	T	10	0.0035775304	0.00065	T	.	.	.	0.384	0.70112	.	.	.	.	0.7986003561244597	0.79813	0.0344876997802	0.03621	0.396479845047	0.24579	T	0.514834	0.82919	D	-0.343221	0.05168	T	-0.22706	0.52055	T	0.00172557914567628	0.00018	T	0.775922	0.40781	T	0.118389055	0.27895	0.07755717	0.17290	0.15799402	0.35569	0.084154546	0.19337	-2.737	0.07619	T	0.08005930382270487	0.04003	0.074	0.05188	B	.;.;.	.;.;.	2.535416	0.32792	19.15	0.75964087230707467	0.11280	0.42497	0.26891	N	AEFBHCI	0.189679	0.31693	N	-0.689546288893229	0.16319	0.8303233	-0.521671695966085	0.21565	1.167199	0.999999795805695	0.74766	0.59774	0.34471	0	0.61073	0.52368	0	0.61531	0.40942	0	0.63947	0.58350	0	.	.	5.47	5.47	0.80345	0.240000	0.17822	6.006000	0.52567	0.599000	0.40250	0.001000	0.13787	1.000000	0.68203	0.271000	0.23793	0.0:0.7829:0.1429:0.0743	9.616	0.38854	682	0.59757	Connexin, N-terminal|Gap junction protein, cysteine-rich domain;Connexin, N-terminal|Gap junction protein, cysteine-rich domain;Connexin, N-terminal|Gap junction protein, cysteine-rich domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015106	0.000000	0.004076	0.008772	0.000000	0.000000	0.024390	0.041667	0.07143	986.44	94	chr13	20189125	.	C	T	986.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.11;DP=297;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-1.259;SOR=0.707	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr13	21157998	21157998	G	A	exonic	SKA3	.	nonsynonymous SNV	SKA3:NM_001166017:exon7:c.C1043T:p.T348M,SKA3:NM_145061:exon7:c.C1043T:p.T348M	.	433	1074	14	1	0	16	0.00739372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0156544544811	0.0042	0.00219649	0.0035	0.0027	0.0012	0	0.0032	0.0049	0.0011	0.0021	0.0034088	527	154602	rs148901267	0.0036	0.0039	0.0037	0.0036	0.0042	0.0036	0.0035	0.0040	0.0040	0.0031	0.0010	0.0023	0	0.0032	0.0042	0.0041	0.0030	0.0014	0.0036	0.0037	0.0039	0.0034	0.0047	0.0034	0.0033	0.0043	0.0042	0.0032	0.0219	0.0019	0.0026	0	0.0024	0.0069	0.0047	0.0043	0.0012	0.02	0.49613	D	0.104	0.38160	T	0.992	0.64738	D	0.668	0.53048	P	0.521879	0.05207	N	1.245730	1	0.08975	N	1.59	0.40313	L	1.85	0.24472	T	-2.52	0.55983	D	0.182	0.19728	-0.9339	0.43560	T	0.052	0.22153	T	10	0.0060964823	0.00137	T	0.015654	0.36500	T	0.098	0.28162	.	.	0.214338557667	0.21045	0.16616548822875385	0.16536	0.50048715726	0.48470	0.228550493717	0.01862	T	0.006046	0.05488	T	-0.576738	0.00202	T	-0.596094	0.13143	T	0.0416320850346392	0.03987	T	0.794321	0.43725	T	0.025676368	0.01533	0.05929403	0.11104	0.025676368	0.01533	0.05929403	0.11103	-4.504	0.30941	T	.	.	0.087	0.11076	B	.;.	.;.	2.018298	0.25648	16.84	0.99173067305936913	0.54441	0.04664	0.10340	N	AEFBI	0.067010	0.13152	N	-0.48982128495439	0.22414	1.196648	-0.701919279891876	0.16913	0.8969288	0.973040928995683	0.29422	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.98	-4.3	0.03454	0.160000	0.16278	0.661000	0.20504	0.618000	0.50648	0.044000	0.21163	0.000000	0.08366	0.728000	0.35033	0.142:0.0:0.2946:0.5634	8.486	0.32234	624	0.65661	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.003788	0.07143	505.53	33	chr13	21157998	.	G	A	505.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.73;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=0.317;SOR=0.704	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1384	6	0	1	0
chr13	23340893	23340893	C	A	exonic	SACS	.	nonsynonymous SNV	SACS:NM_001278055:exon8:c.G2542T:p.V848F,SACS:NM_014363:exon10:c.G2983T:p.V995F	Spastic ataxia, Charlevoix-Saguenay type, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	215463	Charlevoix-Saguenay_spastic_ataxia|Spastic_paraplegia|not_provided|not_specified|Hereditary_spastic_paraplegia	MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550,Orphanet:98|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.264	0.035348618586	0.0017	0.00179712	0.0020	0.0003	0.0019	0	0.0011	0.0026	0.0011	0.0023	0.002044	316	154602	rs142967124	0.0023	0.0023	0.0022	0.0023	0.0026	0.0022	0.0022	0.0025	0.0025	0.0003	0.0012	0.0019	0	0.0010	0.0026	0.0026	0.0014	0.0022	0.0017	0.0017	0.0019	0.0016	0.0027	0.0015	0.0015	0.0024	0.0023	0.0004	0.0132	0.0016	0.0009	0	0.0007	0	0.0027	0.0019	0.0019	0.008	0.58626	D	0.011	0.67890	D	0.002	0.09854	B	0.003	0.08700	B	0.011878	0.29372	N	0.370022	0.994044	0.23598	N	0.69	0.16971	N	-2.41	0.88533	D	-1.23	0.31170	N	0.297	0.33687	-0.8465	0.52208	T	0.289	0.66094	T	10	0.005890131	0.00132	T	0.035349	0.56284	D	0.264	0.57741	.	.	0.33835085245	0.33439	0.7132605807746499	0.71268	.	.	0.333121299744	0.15405	T	0.224856	0.58942	T	-0.311595	0.07608	T	-0.224352	0.52317	T	0.0107761122433494	0.00152	T	0.842916	0.51943	T	0.12160948	0.28593	0.10158022	0.24322	0.09360632	0.21988	0.11698783	0.28241	-4.08	0.26053	T	0.3542140429776149	0.45118	0.176	0.38534	B	.;.	.;.	1.004826	0.13833	10.39	0.94538618014525511	0.25043	0.22802	0.21868	N	AEFBCI	0.141948	0.26426	N	-1.44937097650986	0.02222	0.09786837	-1.44154030789649	0.02848	0.1317515	0.99999766191206	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	6.05	-6.84	0.01527	-0.130000	0.10477	-0.242000	0.10582	-0.816000	0.03012	0.005000	0.17040	0.131000	0.23000	0.984000	0.60418	0.0:0.1874:0.0827:0.73	12.592	0.55803	986	0.02773	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.000000	0.07143	229.44	40	chr13	23340893	.	C	A	229.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=289;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=22.94;ReadPosRankSum=0.405;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:57,0:57:99:.:.:0,115,1593:.	6	0	1	0
chr13	24494662	24494662	A	G	exonic	PARP4	.	nonsynonymous SNV	PARP4:NM_006437:exon7:c.T652C:p.Y218H	.	511	1009	2	0	0	2	0.000990099	.	.	.	3374627	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.136	0.00270420006915	0.0004	.	0.0003	0	0.0004	0	0	0.0004	0	0.0003	0.0002846	44	154602	rs141335603	0.0003	0.0003	0.0003	0.0003	0.0012	0.0003	0.0003	0.0006	0.0004	2.995e-05	0.0002	0.0001	0	3.745e-05	0.0012	0.0003	0.0004	0.0002	0.0004	0.0004	0.0003	0.0004	0.0005	0.0003	0.0003	0.0003	0.0003	9.625e-05	0.0143	0.0003	0	0	0	0	0.0005	0.0005	0	0.097	0.30943	T	0.233	0.24913	T	0.984	0.60733	D	0.819	0.59018	P	0.316952	0.14336	N	0.669254	1	0.08975	N	2.48	0.72069	M	0.91	0.44856	T	-2.58	0.55662	D	0.289	0.32701	-0.9192	0.45662	T	0.193	0.54608	T	10	0.023000091	0.00589	T	0.002704	0.05550	T	0.136	0.36778	.	.	0.706005554004	0.70344	0.4244398762556877	0.42360	0.524165399653	0.50111	0.523069262505	0.42059	T	0.116602	0.43606	T	-0.381088	0.03067	T	-0.453118	0.27353	T	0.382004708051682	0.28259	T	0.630737	0.24588	T	0.11318009	0.26732	0.09506993	0.22531	0.11318009	0.26731	0.09506993	0.22530	-3.843	0.21448	T	.	.	0.156	0.34470	B	.	.	3.150773	0.42647	21.6	0.98223057198296504	0.39316	0.28712	0.23628	N	AEFBI	0.116052	0.22792	N	-0.0107179319723596	0.41369	2.473255	-0.189954045275297	0.31904	1.810006	0.992915768731215	0.33015	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.52	4.52	0.54797	3.319000	0.51694	4.812000	0.45049	0.715000	0.85334	0.026000	0.20160	0.257000	0.23957	0.219000	0.22435	1.0:0.0:0.0:0.0	11.833	0.51581	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1107.63	33	chr13	24494662	.	A	G	1107.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.626;DP=285;ExcessHet=0;FS=2.51;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=0.271;SOR=0.464	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1071	6	0	1	0
chr13	24501670	24501670	G	C	exonic	PARP4	.	nonsynonymous SNV	PARP4:NM_006437:exon3:c.C297G:p.D99E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00139481124931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.498	0.07797	T	0.135	0.34124	T	0.004	0.12183	B	0.003	0.08700	B	0.196466	0.03288	N	1.601250	1	0.08975	N	1.63	0.41750	L	4.68	0.01715	T	-0.84	0.22944	N	0.082	0.05799	-0.9182	0.45797	T	0.005	0.01725	T	10	0.055608064	0.06105	T	0.001395	0.02037	T	0.020	0.03691	0.252	0.19067	0.253726318573	0.24972	0.14910334178112852	0.14832	0.107898415027	0.12170	0.333727955818	0.15496	T	0.035072	0.23573	T	-0.356819	0.04312	T	-0.750322	0.03473	T	0.0603166222572327	0.07218	T	0.438156	0.12052	T	0.03591629	0.04319	0.025083201	0.00542	0.03591629	0.04319	0.025083201	0.00542	-2.975	0.09914	T	.	.	0.135	0.29200	B	.	.	-0.472378	0.01957	0.168	0.59208189562296687	0.06170	0.07796	0.13793	N	AEFBCI	0.053497	0.09645	N	-1.45348111483436	0.02189	0.09640692	-1.48407381814211	0.02475	0.1138722	0.999729188236757	0.42220	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635259	0.50027	0	.	.	5.03	-1.75	0.07598	-1.060000	0.03586	0.269000	0.16635	-0.768000	0.03469	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3881:0.0:0.2833:0.3286	3.188	0.06215	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	173.53	34	chr13	24501670	.	G	C	173.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.446;DP=196;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=0.449;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1060	6	0	1	0
chr13	25096284	25096286	AGA	-	exonic	PABPC3	.	nonframeshift deletion	PABPC3:NM_030979:exon1:c.86_88del:p.K30del	.	432	1066	24	0	0	24	0.0111317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	.	0.0015	9.614e-05	0.0010	0.0002	0	0.0017	0.0022	0.0033	0.0003458	9	26028	rs773401999	0.0012	0.0012	0.0010	0.0013	0.0104	0.0011	0.0011	0.0083	0.0075	0.0002	0.0014	0.0170	2.519e-05	0	0.0104	0.0006	0.0027	0.0038	0.0010	0.0010	0.0010	0.0010	0.0046	0.0009	0.0008	0.0031	0.0026	0.0002	0	0.0012	0.0144	0	0	0.0068	0.0006	0.0052	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006546	0.000000	0.006793	0.017544	0.000000	0.000000	0.012195	0.000000	0.07143	4183.4	35	chr13	25096283	.	GAGA	G	4183.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.56;DP=427;ExcessHet=0;FS=1.703;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.46;ReadPosRankSum=-0.516;SOR=0.832	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,115,1500	6	0	1	0
chr13	25097803	25097803	A	C	exonic	PABPC3	.	nonsynonymous SNV	PABPC3:NM_030979:exon1:c.A1605C:p.Q535H	.	433	1079	10	0	0	10	0.00461255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.0022041194751	0.0026	0.00159744	0.0028	0.0003	0.0009	0	0.0012	0.0028	0.0033	0.0081	0.0026196	405	154602	rs140585797	0.0029	0.0029	0.0026	0.0031	0.0082	0.0028	0.0028	0.0077	0.0075	0.0002	0.0010	0.0015	2.519e-05	0.0014	0.0049	0.0028	0.0031	0.0082	0.0020	0.0020	0.0019	0.0021	0.0079	0.0018	0.0017	0.0059	0.0052	0.0004	0	0.0028	0.0014	0	0.0008	0.0068	0.0028	0.0009	0.0079	0.105	0.29823	T	0.126	0.35205	T	0.003	0.11197	B	0.016	0.17743	B	0.000493	0.43931	U	0.000000	0.995448	0.42694	D	2.245	0.63543	M	0.81	0.48460	T	-2.95	0.61580	D	0.243	0.27435	-1.0514	0.14009	T	0.138	0.45621	T	10	0.009945214	0.00223	T	0.002204	0.04151	T	0.174	0.44019	0.363	0.36874	0.428976297845	0.42518	0.5516417648263708	0.55090	0.126211385096	0.14226	0.610602974892	0.54401	T	0.123787	0.44838	T	-0.486225	0.00682	T	-0.478468	0.24609	T	0.0356921099656465	0.02927	T	0.839216	0.51320	T	0.11091636	0.26213	0.09467803	0.22420	0.11091636	0.26213	0.09467803	0.22419	-7.212	0.55568	T	.	.	0.123	0.25689	B	.	.	0.760814	0.11303	7.928	0.56447308711234234	0.05554	0.57392	0.30365	D	AEFDBI	0.075518	0.15168	N	-1.1087502421701	0.06486	0.2987389	-1.18826784871792	0.06105	0.2928463	0.00217958636347072	0.09210	0.693126	0.56070	0	0.659464	0.62310	0	0.723109	0.80598	0	0.530356	0.10902	0	.	.	0.875	-0.721	0.10625	0.521000	0.22601	1.979000	0.30024	-2.682000	0.00214	0.999000	0.42656	1.000000	0.68203	0.002000	0.04165	0.8103:0.0:0.1897:0.0	6.569	0.21725	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002112	0.000000	0.000000	0.007692	0.000000	0.008621	0.000000	0.003817	0.07143	2351.45	91	chr13	25097803	.	A	C	2351.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.876;DP=783;ExcessHet=0;FS=2.384;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.027;SOR=0.866	GT:AD:DP:GQ:PL	0/1:106,98:204:99:2362,0,3101	6	0	1	0
chr13	25171148	25171148	C	G	exonic	AMER2	.	nonsynonymous SNV	AMER2:NM_152704:exon1:c.G472C:p.A158P,AMER2:NM_199138:exon2:c.G472C:p.A158P	.	358	1142	20	2	0	24	0.0103986	.	.	.	3265478	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.220	0.104579600726	.	0.000199681	0.0011	0.0007	0.0010	0	0.0003	0.0016	0.0026	0.0005	0.0009056	140	154602	rs200352589	0.0009	0.0009	0.0008	0.0009	0.0233	0.0008	0.0008	0.0200	0.0188	0.0003	0.0018	0.0041	0	9.825e-05	0.0233	0.0007	0.0018	0.0007	0.0010	0.0010	0.0010	0.0010	0.0027	0.0009	0.0008	0.0020	0.0018	0.0003	0	0.0027	0.0049	0	9.461e-05	0.0240	0.0009	0.0028	0.0012	0.142	0.31834	T	0.119	0.36101	T	0.999	0.90584	D	0.976	0.76916	D	0.046023	0.23478	N	0.415730	0.927226	0.36858	D	2.32	0.66415	M	2.14	0.19450	T	-2.21	0.52938	N	0.485	0.51940	-1.0456	0.15650	T	0.074	0.29992	T	10	0.016473144	0.00347	T	0.10458	0.77923	D	0.220	0.51569	.	.	0.0806252709748	0.07271	0.4406174403045624	0.43978	.	.	0.895821988583	0.95963	D	0.013835	0.11891	T	-0.232097	0.16372	T	-0.151719	0.59091	T	0.0653049979804275	0.07975	T	0.758124	0.38180	T	0.648277	0.75272	0.73257464	0.84197	0.648277	0.75273	0.73257464	0.84198	-5.689	0.45630	T	.	.	0.513	0.65167	A	.;.	.;.	4.386479	0.67653	25.1	0.99536488398840217	0.70212	0.89026	0.49250	D	AEFDBCI	0.747934	0.68984	D	0.237529650415535	0.53026	3.473423	0.207072149026738	0.50240	3.218084	0.999901297351769	0.45458	0.437478	0.07067	0	0.475579	0.06741	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.38	3.38	0.37806	3.753000	0.54896	4.227000	0.42629	0.437000	0.21030	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:1.0:0.0:0.0	13.903	0.63319	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.021673	0.051546	0.017663	0.029240	0.000000	0.026316	0.015244	0.007576	0.07143	323.83	21	chr13	25171148	.	C	G	323.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.632;DP=181;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=-0.377;SOR=0.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:32,0:32:93:.:.:0,93,972:.	6	0	1	0
chr13	26676725	26676726	GT	-	splicing	WASF3	NM_006646:exon7:r.spl	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0004	0.0003	0.0001	0.0005	0.0003	0	0.0011	0.0003458	9	26028	rs766730218	2.605e-05	0.0005	2.182e-05	3.032e-05	8.994e-05	1.936e-05	1.696e-05	2.996e-05	1.812e-05	0	8.994e-05	0.0001	7.585e-05	1.876e-05	0	1.711e-05	4.978e-05	5.835e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	50.4	33	chr13	26676724	.	GGT	G	50.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.282;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.4;ReadPosRankSum=-0.842;SOR=0.693	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	6	0	1	0
chr13	28322931	28322931	T	C	exonic	FLT1	.	nonsynonymous SNV	FLT1:NM_002019:exon21:c.A2812G:p.M938V	.	430	1077	14	1	0	16	0.00737327	.	.	.	702653	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.071	.	0.0028	0.00359425	0.0032	0.0009	0.0010	0	0.0002	0.0032	0.0033	0.0093	0.0030465	471	154602	rs35549791	0.0026	0.0026	0.0023	0.0029	0.0087	0.0026	0.0025	0.0082	0.0080	0.0005	0.0016	0.0005	0	0.0002	0.0069	0.0025	0.0027	0.0087	0.0024	0.0024	0.0024	0.0024	0.0094	0.0022	0.0021	0.0072	0.0064	0.0007	0.0011	0.0043	0.0009	0.0002	0	0.0034	0.0030	0.0038	0.0094	0.554	0.06502	T	0.508	0.10893	T	0.0	0.02946	B	0.002	0.06944	B	0.948503	0.07640	N	1.021770	1	0.08975	N	0.615	0.15706	N	-0.8	0.73845	T	0.07	0.06138	N	0.111	0.09772	-0.9777	0.35526	T	0.140	0.45866	T	10	0.0031074882	0.00052	T	.	.	.	0.071	0.20720	.	.	0.228066490088	0.22430	0.3764998894323643	0.37563	0.286092782875	0.31015	0.251135587692	0.03888	T	0.331921	0.70194	T	-0.581191	0.00189	T	-0.601644	0.12674	T	0.00402470849751331	0.00043	T	0.278972	0.07508	T	0.01784996	0.00309	0.035179887	0.02721	0.01784996	0.00309	0.035179887	0.02721	-3.524	0.16769	T	.	.	0.053	0.00248	B	.;.	.;.	-1.978851	0.00106	0.002	0.32694068452336811	0.01908	0.01224	0.04337	N	AEFGBCI	0.063911	0.12380	N	-1.76704238412251	0.00631	0.02720725	-1.82360273110645	0.00686	0.03055535	0.99999999998648	0.74766	0.730579	0.87903	0	0.315538	0.05683	2	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.75	-9.27	0.00560	-2.987000	0.00723	-6.572000	0.01362	-1.475000	0.01066	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.089:0.5638:0.2136:0.1337	8.255	0.30908	922	0.19044	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.011364	0.07143	176.46	14	chr13	28322931	.	T	C	176.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.094;DP=121;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.06;ReadPosRankSum=1.39;SOR=1.022	GT:AD:DP:GQ:PL	0/0:29,0:29:81:0,81,1215	6	0	1	0
chr13	30240482	30240482	T	C	exonic	KATNAL1	.	nonsynonymous SNV	KATNAL1:NM_001014380:exon6:c.A704G:p.K235R,KATNAL1:NM_032116:exon6:c.A704G:p.K235R	.	432	1085	4	1	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.472	0.113222635626	.	0.000199681	3.3e-05	0	8.672e-05	0	0	3.002e-05	0	6.061e-05	3.23e-05	5	154602	rs531441020	5.476e-05	5.472e-05	4.495e-05	6.467e-05	0.0031	4.48e-05	4.15e-05	0.0020	0.0017	2.988e-05	0.0001	0	0	0	0.0031	2.88e-05	6.627e-05	0.0002	1.97e-05	1.968e-05	3.854e-05	0	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0034	0	0.0005	0.0002	0.047	0.40319	D	0.141	0.33442	T	0.35	0.33644	B	0.179	0.35808	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.89	0.83701	M	-3.55	0.94834	D	-2.38	0.52451	N	0.324	0.36464	0.475	0.90199	D	0.752	0.91553	D	10	0.24095717	0.41264	T	0.113223	0.79165	D	0.472	0.76554	0.399	0.42753	0.866189057656	0.86489	0.7836648016738307	0.78317	0.841172558565	0.68078	0.767450690269	0.77043	T	0.114784	0.43286	T	0.0441858	0.57591	T	0.0226648	0.71803	D	0.270003116513284	0.23747	T	0.90321	0.66112	D	0.6116723	0.73318	0.622398	0.77998	0.6116723	0.73319	0.622398	0.77999	-8.418	0.63884	D	.	.	0.090	0.14614	B	.;.	.;.	4.157185	0.62404	24.5	0.99787150752186693	0.87308	0.97579	0.75677	D	AEFDBI	0.688192	0.64928	D	0.225465131749185	0.52437	3.417752	0.372707046222535	0.59888	4.170569	0.999999999903917	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	6.255000	0.72423	7.829000	0.70041	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.084	0.80840	909	0.22467	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.07143	1225.63	35	chr13	30240482	.	T	C	1225.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.576;DP=265;ExcessHet=0;FS=2.878;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-0.919;SOR=0.446	GT:AD:DP:GQ:PL	0/1:33,54:87:99:1236,0,640	6	0	1	0
chr13	30428166	30428166	C	A	exonic	UBE2L5	.	nonsynonymous SNV	UBE2L5:NM_001355247:exon4:c.C176A:p.A59E	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1006508032	7.84e-05	7.94e-05	7.669e-05	8.012e-05	0.0005	6.635e-05	6.174e-05	0.0001	7.57e-05	2.999e-05	2.237e-05	0	0	1.872e-05	0.0005	8.507e-05	0.0002	0	7.893e-05	7.882e-05	0.0001	2.693e-05	0.0002	4.501e-05	3.515e-05	9.051e-05	7.014e-05	0	0	6.556e-05	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26512894	0.44007	T	.	.	.	.	.	.	.	.	.	0.33934296686967286	0.33847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.757524	0.38090	T	0.14178796	0.32656	0.4693842	0.69226	0.14178796	0.32656	0.4693842	0.69226	-9.76	0.72462	D	.	.	0.268	0.54383	B	.;.;.	.;.;.	2.177675	0.27758	17.57	0.88350078539445354	0.17908	0.66302	0.33031	D	AEFI	.	.	.	.	.	.	.	.	.	0.999999808590735	0.74766	0.162113	0.03585	0	0.18701	0.04157	0	0.083675	0.02720	0	0.24566	0.04862	0	0.784981	0.46409	1.31	1.31	0.20837	4.199000	0.58223	0.567000	0.19568	-0.316000	0.05924	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	8.567	0.32708	812	0.42537	Ubiquitin-conjugating enzyme E2|Ubiquitin-conjugating enzyme E2|Ubiquitin-conjugating enzyme E2;Ubiquitin-conjugating enzyme E2|Ubiquitin-conjugating enzyme E2|Ubiquitin-conjugating enzyme E2;Ubiquitin-conjugating enzyme E2|Ubiquitin-conjugating enzyme E2|Ubiquitin-conjugating enzyme E2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	164.27	36	chr13	30428166	.	C	A	164.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.461;DP=189;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=0.508;SOR=0.941	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1152	5	0	1	1
chr13	31791844	31791844	A	G	exonic	RXFP2	.	nonsynonymous SNV	RXFP2:NM_001166058:exon14:c.A1112G:p.H371R,RXFP2:NM_130806:exon15:c.A1184G:p.H395R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0167298173437	0.0002	.	9.061e-05	9.61e-05	0	0	0	0.0001	0	0	7.76e-05	12	154602	rs146882087	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	0	0.0002	0	0	0	0	0.0004	1.656e-05	0	9.207e-05	9.196e-05	0.0001	5.385e-05	0.0002	5.532e-05	4.368e-05	9.05e-05	7.014e-05	7.248e-05	0	0	0	0	0	0	0.0002	0	0	0.009	0.57480	D	0.002	0.79402	D	0.022	0.18677	B	0.027	0.21085	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.645	0.77386	M	4.35	0.70717	T	-7.35	0.94620	D	0.346	0.38746	-0.6400	0.63146	T	0.305	0.67630	T	10	0.22356305	0.39137	T	0.01673	0.38123	T	0.222	0.51872	.	.	0.8875212452	0.88641	0.7915219342420435	0.79104	0.234172988239	0.25956	0.565466403961	0.48038	T	0.586468	0.86538	D	-0.0310271	0.47268	T	-0.0179164	0.69166	D	0.547108292579651	0.34369	D	0.842416	0.51891	T	0.6739155	0.76642	0.71306646	0.83069	0.6739155	0.76644	0.71306646	0.83070	-7.814	0.62168	D	.	.	0.149	0.32992	B	.;.	.;.	3.435992	0.47779	22.5	0.98944427818023906	0.48997	0.97894	0.77931	D	AEFBI	0.898310	0.84145	D	0.13429390615309	0.48068	3.023937	0.298255095624702	0.55437	3.706773	0.999999999995697	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.62	5.62	0.85714	6.050000	0.70689	5.070000	0.47169	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	1.0:0.0:0.0:0.0	13.772	0.62519	768	0.49510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1734.49	33	chr13	31791844	.	A	G	1734.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.35;DP=322;ExcessHet=0;FS=1.318;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.745;SOR=0.817	GT:AD:DP:GQ:PL	0/1:70,78:148:99:1745,0,1675	6	0	1	0
chr13	32231282	32231282	T	C	exonic	FRY	.	nonsynonymous SNV	FRY:NM_023037:exon41:c.T5509C:p.F1837L	.	2	1513	7	0	0	7	0.00230795	.	.	.	725463	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.220	0.00164378615415	.	0.000199681	0.0006	0	0	0	0	0.0001	0	0.0039	0.0004981	77	154602	rs55673178	0.0003	0.0003	0.0002	0.0004	0.0036	0.0003	0.0003	0.0033	0.0032	0	2.236e-05	0	0	0	0.0016	9.086e-05	0.0003	0.0036	0.0002	0.0002	0.0002	0.0002	0.0027	0.0002	0.0001	0.0016	0.0013	0	0	6.534e-05	0	0	0	0	0.0002	0.0009	0.0027	.	.	.	0.004	0.74150	D	0.002	0.09854	B	0.011	0.15521	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.82	0.47800	L	.	.	.	.	.	.	0.699	0.81957	-1.0812	0.07118	T	0.084	0.32786	T	10	0.014796644	0.00311	T	0.001644	0.02676	T	0.220	0.51569	0.651	0.78858	0.138757226776	0.13463	0.6195246745677334	0.61885	0.514230521258	0.49380	0.811369299889	0.83702	D	0.120306	0.59454	T	-0.0824388	0.39318	T	0.10765	0.77417	D	0.070161308751576	0.08674	T	0.991201	0.97285	D	0.4060051	0.61146	0.5081346	0.71574	0.4060051	0.61147	0.5081346	0.71575	-9.939	0.73546	D	.	.	0.955	0.87405	P	.;.;.;.;.	.;.;.;.;.	4.093167	0.60974	24.3	0.99445648376849438	0.65021	0.96780	0.70900	D	AEFBI	0.676030	0.64121	D	0.040002952827877	0.43683	2.65653	0.219982053969414	0.50956	3.282541	0.999999999966543	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.76	5.76	0.90726	7.670000	0.82907	7.814000	0.69527	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.0:1.0	16.067	0.80693	946	0.12043	Cell morphogenesis central region;Cell morphogenesis central region;Cell morphogenesis central region;Cell morphogenesis central region;Cell morphogenesis central region	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	1599.45	36	chr13	32231282	.	T	C	1599.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.616;DP=291;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=0.41;SOR=0.634	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1261	6	0	1	0
chr13	32239736	32239736	A	G	exonic	FRY	.	nonsynonymous SNV	FRY:NM_023037:exon46:c.A6542G:p.K2181R	.	2	1501	18	1	0	20	0.00661813	.	.	.	713906	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.137	0.00534503153337	0.0020	0.00159744	0.0023	0.0016	0.0015	0	0	0.0024	0.0011	0.0047	0.0021539	333	154602	rs193120945	0.0021	0.0021	0.0019	0.0023	0.0076	0.0020	0.0020	0.0058	0.0052	0.0013	0.0015	0.0057	0	0.0002	0.0076	0.0020	0.0021	0.0044	0.0019	0.0019	0.0019	0.0018	0.0046	0.0017	0.0016	0.0031	0.0026	0.0016	0	0.0023	0.0049	0	0.0002	0	0.0021	0.0028	0.0046	.	.	.	0.142	0.33330	T	0.744	0.43069	P	0.435	0.45529	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.08	0.57402	M	.	.	.	.	.	.	0.463	0.58117	-1.1146	0.02703	T	0.086	0.33354	T	10	0.009856969	0.00221	T	0.005345	0.13679	T	0.137	0.36984	.	.	0.0934897674506	0.08844	0.34217288690981373	0.34130	0.996671736849	0.74258	0.703397274017	0.67635	T	0.02817	0.22039	T	-0.29952	0.08706	T	-0.202749	0.54385	T	0.0190042936767395	0.00609	T	0.961204	0.85427	D	0.21366832	0.43751	0.22364557	0.47251	0.21366832	0.43751	0.22364557	0.47250	-5.702	0.43712	T	.	.	0.097	0.15832	B	.;.;.;.;.	.;.;.;.;.	4.009705	0.59140	24.1	0.99882990656796666	0.95892	0.99042	0.90377	D	AEFBI	0.873240	0.79550	D	0.544965658979674	0.69774	5.40525	0.637761024529979	0.77703	6.730514	0.999999999999178	0.74766	0.651	0.46895	0	0.573888	0.26702	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	6.07	6.07	0.98675	7.493000	0.80329	6.973000	0.57097	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	16.641	0.84955	946	0.12043	Cell morphogenesis protein C-terminal;Cell morphogenesis protein C-terminal;Cell morphogenesis protein C-terminal;Cell morphogenesis protein C-terminal;Cell morphogenesis protein C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.006793	0.002924	0.000000	0.008621	0.006098	0.003788	0.07143	620.53	33	chr13	32239736	.	A	G	620.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.598;DP=250;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.16;ReadPosRankSum=-0.589;SOR=0.749	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1131	6	0	1	0
chr13	33017247	33017247	C	G	exonic	KL	.	nonsynonymous SNV	KL:NM_004795:exon1:c.C807G:p.H269Q	Tumoral calcinosis, hyperphosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1633673	not_provided|KL-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.580	0.430856675639	0.0004	0.00119808	0.0004	0.0068	0	0	0	0	0	0	0.0002135	33	154602	rs368291756	0.0001	0.0001	0.0001	0.0001	0.0041	9.926e-05	9.391e-05	0.0036	0.0034	0.0041	0.0001	0	0	0	0	2.727e-06	0.0003	0	0.0011	0.0011	0.0011	0.0010	0.0037	0.0009	0.0009	0.0032	0.0030	0.0037	0	0.0005	0	0	0	0	0	0.0009	0	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.785	0.95291	H	0.13	0.60973	T	-7.45	0.94899	D	0.855	0.85132	0.370	0.88640	D	0.538	0.82931	D	10	0.06864825	0.09738	T	0.430857	0.93979	D	0.580	0.83081	0.738	0.87063	0.926619176812	0.92587	0.9142317389128645	0.91398	2.10983627166	0.94926	0.681194067001	0.64441	T	0.375429	0.73903	T	0.0154882	0.53771	T	0.250287	0.85633	D	0.330088138580322	0.26228	T	0.829117	0.49388	T	0.98819375	0.99666	0.98864704	0.99968	0.98819375	0.99666	0.98864704	0.99968	-8.621	0.65228	D	0.7408860151346929	0.82294	0.627	0.69975	P	.	.	4.542704	0.71414	25.7	0.99328352106260254	0.59661	0.85424	0.44555	D	AEFDGBCI	0.577591	0.57913	D	0.820304299503265	0.87359	9.190572	0.678178347730903	0.80727	7.363193	0.999999999962901	0.74766	0.437478	0.07067	0	0.218748	0.04544	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.55	3.69	0.41483	2.677000	0.46558	3.223000	0.36864	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9197:0.0:0.0803	13.105	0.58659	604	0.67577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	822.44	35	chr13	33017247	.	C	G	822.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.962;DP=288;ExcessHet=0;FS=0.816;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.24;ReadPosRankSum=-1.328;SOR=0.554	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	6	0	1	0
chr13	33110802	33110802	T	C	exonic	STARD13	.	nonsynonymous SNV	STARD13:NM_052851:exon11:c.A2359G:p.T787A,STARD13:NM_178006:exon11:c.A2713G:p.T905A,STARD13:NM_178007:exon11:c.A2689G:p.T897A,STARD13:NM_001243476:exon15:c.A2608G:p.T870A	.	430	1084	7	1	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	.	0.00179712	0.0018	9.61e-05	0	0	0	1.498e-05	0	0.0133	0.0015136	234	154602	rs572630918	0.0008	0.0008	0.0004	0.0013	0.0137	0.0008	0.0008	0.0131	0.0128	2.987e-05	0	0	0	0	0.0012	1.799e-06	0.0006	0.0137	0.0003	0.0003	0.0001	0.0006	0.0097	0.0002	0.0002	0.0075	0.0067	0	0	0	0	0.0004	0	0	0	0	0.0097	0.236	0.17940	T	0.295	0.20680	T	0.001	0.07471	B	0.004	0.10090	B	0.000371	0.45194	D	0.255981	1	0.08975	N	0.755	0.19153	N	3.39	0.05710	T	-1.06	0.30964	N	0.338	0.37923	-1.0068	0.27912	T	0.016	0.06569	T	10	0.0040730536	0.00080	T	.	.	.	0.038	0.09825	0.221	0.14371	0.356072328145	0.35220	0.2216906021475708	0.22084	0.180330083258	0.20290	0.308916240931	0.11743	T	0.118944	0.44013	T	-0.679063	0.00049	T	-0.737172	0.04010	T	0.0218273758498539	0.00889	T	0.833317	0.50212	T	0.05789907	0.11583	0.043276887	0.05349	0.05789907	0.11582	0.043276887	0.05349	-5.119	0.40678	T	.	.	0.068	0.03231	B	.;.;.	.;.;.	2.541758	0.32879	19.18	0.97511131168487541	0.34352	0.61436	0.31484	D	AEFGBHCI	0.131895	0.25100	N	-0.469482674093094	0.23085	1.237201	-0.390098903560168	0.25290	1.389948	0.999999998649125	0.74766	0.645754	0.44609	0	0.623108	0.53289	0	0.618467	0.43123	0	0.723	0.93126	0	.	.	5.93	3.34	0.37357	1.568000	0.36027	1.475000	0.26781	0.651000	0.53179	0.695000	0.28578	0.970000	0.29701	0.916000	0.45140	0.1243:0.0:0.1303:0.7455	9.046	0.35507	473	0.77910	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1749.44	39	chr13	33110802	.	T	C	1749.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.817;DP=406;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=-0.17;SOR=0.695	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr13	37005941	37005941	C	A	exonic	EXOSC8	.	nonsynonymous SNV	EXOSC8:NM_181503:exon6:c.C260A:p.P87H	Pontocerebellar hypoplasia, type 1C, Autosomal recessive	431	1082	9	0	0	9	0.00414174	.	.	.	2072188	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.662	.	0.0065	0.00539137	0.0106	0.0015	0.0534	0	0.0038	0.0082	0.0077	0.0046	0.0102457	1584	154602	rs117135638	0.0086	0.0087	0.0088	0.0085	0.0410	0.0085	0.0085	0.0395	0.0388	0.0012	0.0410	0.0065	0	0.0052	0.0035	0.0085	0.0067	0.0050	0.0072	0.0072	0.0076	0.0068	0.0180	0.0068	0.0067	0.0162	0.0155	0.0019	0.0175	0.0180	0.0069	0	0.0034	0.0069	0.0092	0.0057	0.0039	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.044343	1	0.81001	D	3.98	0.96631	H	-0.53	0.70833	T	-5.91	0.88904	D	0.199	0.21969	0.048	0.83201	D	0.432	0.77316	T	10	0.009628981	0.00217	T	.	.	.	0.662	0.87381	.	.	.	.	0.7475105619014472	0.74697	0.734655633325	0.62909	0.499908030033	0.38815	T	0.37257	0.73673	T	-0.098843	0.36618	T	0.118099	0.78110	D	0.133800031171326	0.15728	T	0.955504	0.83071	D	0.95013887	0.96280	0.9560138	0.98752	0.916618	0.92922	0.9560138	0.98752	-9.367	0.70028	D	0.7855991790469512	0.86484	0.715	0.73583	P	.	.	4.974034	0.82343	27.8	0.99709429343799139	0.81213	0.99266	0.93678	D	AEFBI	0.904527	0.85494	D	0.950582108999554	0.94008	12.43485	0.923403969295697	0.96513	14.78992	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.93	5.93	0.95888	7.514000	0.80644	7.627000	0.62562	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.354	0.98826	787	0.46738	Exoribonuclease, phosphorolytic domain 1	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.001359	0.000000	0.050000	0.000000	0.003049	0.003788	0.07143	73.49	33	chr13	37005941	.	C	A	73.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.357;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.9;ReadPosRankSum=-1.373;SOR=0.33	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,100,1291	6	0	1	0
chr13	38687876	38687876	C	A	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon1:c.C532A:p.Q178K	Fraser syndrome, Autosomal recessive	1	1503	18	0	0	18	0.00595238	.	.	.	319605	not_provided|Fraser_syndrome_2|Isolated_cryptophthalmia|FREM2-related_disorder	MedGen:C3661900|MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666|MONDO:MONDO:0007410,MedGen:C1852453,OMIM:123570,Orphanet:91396|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.168	0.0124422121014	7.7e-05	.	0.0005	0	0.0014	0	0	0.0003	0	0.0015	0.0002523	39	154602	rs148774506	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	0.0001	0.0010	0.0009	0	0.0002	0.0030	0	0	0.0004	3.03e-05	0.0003	0.0012	0.0001	0.0001	7.705e-05	0.0001	0.0010	6.504e-05	5.317e-05	0.0004	0.0003	0	0	0.0001	0.0023	0	0	0	1.47e-05	0	0.0010	0.147	0.24955	T	0.114	0.36765	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.18	0.18875	T	-1.7	0.40468	N	0.783	0.77978	-1.1070	0.03340	T	0.062	0.25744	T	10	0.079720825	0.12856	T	0.012442	0.31014	T	0.168	0.42943	.	.	0.390060412749	0.38622	0.5399021231988141	0.53915	0.315621089703	0.33839	0.708732783794	0.68410	T	.	.	.	-0.281537	0.10505	T	-0.222737	0.52471	T	0.0642546956653411	0.07820	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614	0.69464	P	.	.	3.771298	0.54171	23.5	0.99456474864214039	0.65581	0.95902	0.66648	D	AEFDBCI	0.838083	0.75564	D	0.326360227089557	0.57505	3.918081	0.42849369769751	0.63347	4.56663	1.0	0.98316	0.72623	0.87236	0	0.563428	0.19063	0	0.594344	0.31042	0	0.530356	0.10902	0	.	.	4.93	4.93	0.64394	7.457000	0.79807	7.642000	0.63248	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.339	0.90241	938	0.14419	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003535	0.000000	0.001359	0.005882	0.000000	0.008621	0.006135	0.003788	0.07143	1745.44	34	chr13	38687876	.	C	A	1745.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.311;DP=335;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=0.187;SOR=0.719	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,984	6	0	1	0
chr13	38859428	38859428	G	C	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon14:c.G7357C:p.V2453L	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0142809241756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	0.0001	5.454e-06	1.377e-06	4.505e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.016	0.60972	D	.	.	.	.	.	.	0.000203	0.47681	N	0.139815	0.999998	0.58761	D	.	.	.	1.88	0.23884	T	-1.95	0.45222	N	0.416	0.45615	-0.9811	0.34748	T	0.091	0.34847	T	10	0.29562914	0.47131	T	0.014281	0.34290	T	0.156	0.40720	0.299	0.26522	0.426670027402	0.42282	0.510707213402808	0.50992	0.115962092506	0.13078	0.591294765472	0.51677	T	.	.	.	-0.139472	0.29976	T	-0.438119	0.29019	T	0.881288886070251	0.53134	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.57361	A	.	.	2.487454	0.32091	18.94	0.98227814918200052	0.39360	0.97595	0.75784	D	AEFBI	0.688535	0.64950	D	0.180157683667661	0.50246	3.21658	0.185006421886382	0.49024	3.110789	0.791277744604143	0.24019	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.86	4.14	0.47821	5.015000	0.63798	5.657000	0.49204	-0.816000	0.03012	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.063:0.1148:0.7031:0.1191	8.428	0.31901	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	453.09	45	chr13	38859428	.	G	C	453.09	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-3.538;DP=745;ExcessHet=2.5225;FS=268.6;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=1.78;SOR=10.778	GT:AD:DP:GQ:PL	0/1:100,56:163:99:114,0,1500	2	0	4	1
chr13	39013272	39013272	C	A	exonic	PROSER1	.	nonsynonymous SNV	PROSER1:NM_170719:exon10:c.G1914T:p.L638F,PROSER1:NM_025138:exon11:c.G1980T:p.L660F	.	417	1098	7	0	0	7	0.00317749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.0973073566141	0.0027	0.00139776	0.0023	9.617e-05	0.0022	0	0.0023	0.0030	0.0022	0.0021	0.0023415	362	154602	rs138493654	0.0032	0.0032	0.0033	0.0032	0.0045	0.0032	0.0031	0.0036	0.0035	0.0007	0.0016	0.0021	0	0.0019	0.0045	0.0037	0.0027	0.0024	0.0022	0.0022	0.0023	0.0021	0.0037	0.0020	0.0019	0.0033	0.0032	0.0004	0	0.0017	0.0023	0	0.0013	0.0034	0.0037	0.0024	0.0025	0.124	0.27426	T	0.066	0.48336	T	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.762768	0.34058	D	2.175	0.60977	M	-0.48	0.70249	T	-1.83	0.42957	N	0.649	0.66016	-0.4594	0.70088	T	0.277	0.64896	T	8	0.010048866	0.00225	T	0.097307	0.76751	D	0.346	0.66769	0.335	0.32329	0.244449712813	0.24043	0.49871440507767784	0.49792	0.426492723651	0.43021	0.427170664072	0.28821	T	0.085943	0.37614	T	-0.26709	0.12084	T	-0.154098	0.58879	T	0.0316969013864098	0.02257	T	0.914909	0.69682	D	0.04847475	0.08456	0.08575462	0.19820	0.04847475	0.08456	0.08575462	0.19820	-4.21	0.28706	T	.	.	0.164	0.44449	B	.;.	.;.	1.658837	0.21158	15.08	0.99660087901511651	0.77883	0.32248	0.24538	N	AEFDBCI	0.105130	0.21015	N	-0.338330387511936	0.27703	1.522099	-0.524181724080292	0.21497	1.163196	0.746058225863252	0.23286	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.27	-0.468	0.11539	-1.185000	0.03182	-1.448000	0.05416	0.524000	0.24156	0.016000	0.19238	0.000000	0.08366	0.897000	0.43391	0.0:0.5255:0.0:0.4745	11.529	0.49849	872	0.31118	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.000000	0.010870	0.008772	0.000000	0.000000	0.006098	0.000000	0.07143	2031.45	34	chr13	39013272	.	C	A	2031.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.702;DP=430;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.72;ReadPosRankSum=2.26;SOR=0.732	GT:AD:DP:GQ:PL	0/0:123,0:123:99:0,120,1800	6	0	1	0
chr13	39047760	39047760	T	C	exonic	NHLRC3	.	nonsynonymous SNV	NHLRC3:NM_001017370:exon6:c.T677C:p.I226T,NHLRC3:NM_001012754:exon7:c.T878C:p.I293T	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.0489988691516	7.7e-05	0.000798722	0.0006	9.628e-05	0.0002	0.0001	0	7.495e-05	0	0.0039	0.0004981	77	154602	rs200432148	0.0003	0.0004	0.0002	0.0005	0.0048	0.0003	0.0003	0.0045	0.0043	5.975e-05	2.236e-05	0	0.0002	0	0.0009	5.038e-05	0.0004	0.0048	0.0002	0.0002	0.0002	0.0003	0.0041	0.0002	0.0001	0.0027	0.0023	2.405e-05	0	0.0002	0.0003	0.0002	0	0	0.0001	0	0.0041	0.052	0.58626	T	0.29	0.49390	T	0.999	0.77913	D	0.937	0.67262	D	0.000006	0.62929	D	0.142736	0.981969	0.39837	D	2.38	0.68558	M	-0.16	0.67367	T	-2.2	0.49519	N	0.528	0.58117	-0.1422	0.79111	T	0.432	0.77361	T	9	0.01135394	0.00249	T	0.048999	0.63619	D	0.284	0.60219	.	.	0.916706834317	0.91586	0.6576543416918096	0.65702	0.180758632047	0.20328	0.486777126789	0.36993	T	0.009173	0.08364	T	-0.222021	0.17717	T	-0.0907409	0.64106	T	0.0754042825595457	0.09389	T	0.89941	0.64770	D	0.10241989	0.24202	0.13898268	0.33175	0.10241989	0.24202	0.13898268	0.33174	-2.062	0.07532	T	.	.	0.086	0.20741	B	.;.;.	.;.;.	4.017934	0.59328	24.1	0.99608783048522642	0.74694	0.95624	0.65469	D	AEFDGBHCI	0.841958	0.75911	D	0.483222147988572	0.66110	4.907998	0.412899454687167	0.62366	4.451008	0.999999999999987	0.74766	0.77792	0.99625	0	0.723133	0.82719	0	0.854111	0.99894	0	0.699908	0.69081	0	.	.	5.46	5.46	0.80021	7.386000	0.79041	7.908000	0.73883	0.660000	0.55035	1.000000	0.71638	0.994000	0.32194	0.732000	0.35165	0.0:0.0:0.0:1.0	15.005	0.71158	884	0.28482	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1426.44	34	chr13	39047760	.	T	C	1426.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.134;DP=306;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=0.878;SOR=0.659	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	6	0	1	0
chr13	39665124	39665124	T	C	exonic	COG6	.	nonsynonymous SNV	COG6:NM_001145079:exon4:c.T398C:p.I133T,COG6:NM_020751:exon4:c.T398C:p.I133T	Congenital disorder of glycosylation, type IIl, Autosomal recessive;Shaheen syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.469	0.0376945243607	.	0.000199681	0.0002	0	0	0	0	0	0	0.0012	0.0001358	21	154602	rs552900633	6.219e-05	6.644e-05	3.521e-05	8.902e-05	0.0009	5.144e-05	4.739e-05	0.0007	0.0007	0	0	0	0	0	0	7.795e-06	1.747e-05	0.0009	3.282e-05	3.281e-05	0	6.714e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.001	0.78490	D	0.004	0.74150	D	0.734	0.42776	P	0.42	0.45080	B	0.000000	0.84330	D	0.040920	1	0.81001	D	2.865	0.83145	M	0.42	0.56937	T	-3.98	0.73788	D	0.916	0.91852	-0.6795	0.61396	T	0.208	0.56758	T	10	0.5275482	0.62996	D	0.037695	0.57774	D	0.469	0.76355	.	.	0.632812818788	0.62980	0.5015914082846489	0.50081	0.280073170933	0.30486	0.740190386772	0.73001	T	0.102317	0.40992	T	0.051536	0.58541	T	0.232429	0.84788	D	0.671059608459473	0.39385	D	0.907309	0.67223	D	0.6865166	0.77322	0.68193346	0.81307	0.6865166	0.77323	0.68193346	0.81308	-7.771	0.59499	D	0.6389999311004269	0.70943	0.823	0.78358	P	.;.	.;.	4.483676	0.69979	25.5	0.99799853878709477	0.88461	0.98334	0.81734	D	AEFBI	0.788581	0.71803	D	0.565928718256848	0.71057	5.593444	0.612702144986207	0.75862	6.386152	0.999999988466448	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	5.72	5.72	0.89380	7.186000	0.77262	7.864000	0.71599	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.824	0.69723	681	0.59854	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	389.27	17	chr13	39665124	.	T	C	389.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.193;DP=139;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=0.673;SOR=0.715	GT:AD:DP:GQ:PL	0/0:25,0:25:75:0,75,725	5	0	1	1
chr13	41252659	41252659	G	A	exonic	MTRF1	.	nonsynonymous SNV	MTRF1:NM_001354074:exon5:c.C683T:p.T228I,MTRF1:NM_004294:exon5:c.C683T:p.T228I,MTRF1:NM_001354076:exon8:c.C683T:p.T228I,MTRF1:NM_001354073:exon10:c.C683T:p.T228I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0296671959415	0.0002	.	6.694e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs148160458	4.044e-05	4.104e-05	5.048e-05	3.03e-05	8.11e-06	3.185e-05	2.916e-05	3.82e-06	2.76e-06	0	0	0.0016	0	0	0	8.11e-06	0.0001	0	4.601e-05	4.597e-05	3.855e-05	5.382e-05	.	2.11e-05	1.527e-05	.	.	0	0	0	0.0020	0	0	0	0	0	0	0.289	0.15047	T	0.3	0.38891	T	0.885	0.48692	P	0.541	0.48869	P	0.000066	0.52346	D	0.198564	0.996459	0.81001	D	3.01	0.86067	M	0.88	0.46028	T	-1.94	0.45042	N	0.556	0.58117	-0.7315	0.58888	T	0.202	0.55919	T	10	0.06835714	0.09656	T	0.029667	0.52133	D	0.123	0.34020	.	.	0.772169728129	0.77008	0.6284745662626787	0.62780	0.407159606283	0.41585	0.592951476574	0.51911	T	0.005396	0.26860	T	-0.0431114	0.45486	T	-0.284217	0.46370	T	0.427873920819428	0.29982	T	0.538946	0.31875	T	0.100440376	0.23715	0.15202755	0.35786	0.100440376	0.23715	0.15202755	0.35785	-5.455	0.41445	T	.	.	0.170	0.37350	B	.;.;.	.;.;.	4.493332	0.70214	25.5	0.99864097816841524	0.94276	0.97191	0.73226	D	AEFBI	0.473014	0.51788	N	0.616273441251146	0.74202	6.093	0.637232017369526	0.77663	6.722887	0.999999999788823	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.6	5.6	0.84997	4.409000	0.59524	11.723000	0.94851	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0711:0.0:0.9289:0.0	14.827	0.69749	707	0.57054	Peptide chain release factor|Peptide chain release factor;Peptide chain release factor|Peptide chain release factor;Peptide chain release factor|Peptide chain release factor	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr13	41252659	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1013	6	1	0	0
chr13	41811297	41811297	C	T	exonic	VWA8	.	nonsynonymous SNV	VWA8:NM_001009814:exon17:c.G1991A:p.R664Q,VWA8:NM_015058:exon17:c.G1991A:p.R664Q	.	435	1083	4	0	0	4	0.00184332	.	.	.	2279354	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.327	0.057883720797	7.7e-05	.	0.0003	0.0002	0.0003	0	0	0.0003	0.0011	0.0005	0.0002393	37	154602	rs149571852	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0	0.0004	3.842e-05	0	0	0.0005	0.0002	0.0002	0.0005	0.0001	0.0001	8.996e-05	0.0002	0.0012	9.147e-05	7.702e-05	0.0005	0.0004	0	0	0.0002	0	0	0	0	0.0002	0.0005	0.0012	0.01	0.59928	D	0.017	0.60337	D	1.0	0.90584	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.62	0.76659	M	0.87	0.46412	T	-3.19	0.68880	D	0.753	0.92317	-0.3835	0.72543	T	0.311	0.68130	T	10	0.56253177	0.64869	D	0.057884	0.67124	D	0.327	0.64926	.	.	0.438806408302	0.43502	0.6270628148936381	0.62639	0.349453596639	0.36798	0.663333714008	0.61887	T	0.394871	0.75390	T	-0.181925	0.23450	T	-0.149667	0.59273	T	0.308584481477737	0.25356	T	0.990672	0.97110	D	0.41144735	0.61517	0.31283665	0.57284	0.41144735	0.61518	0.31283665	0.57283	-14.635	0.95020	D	.	.	0.389	0.59103	A	.;.	.;.	4.604419	0.72959	25.9	0.99957356993585311	0.99981	0.96561	0.69756	D	AEFDGBI	0.670673	0.63768	D	0.725505066352173	0.81305	7.490999	0.640520158915922	0.77905	6.770537	0.999999999999718	0.74766	0.608746	0.35421	0	0.627608	0.54475	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.27	5.27	0.73797	6.820000	0.75057	7.648000	0.63548	0.549000	0.26987	0.994000	0.38300	1.000000	0.68203	0.259000	0.23493	0.0:1.0:0.0:0.0	18.478	0.90748	838	0.37812	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1429	2902.26	35	chr13	41811297	.	C	T	2902.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.711;DP=360;ExcessHet=0.3476;FS=1.046;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=2.07;SOR=0.772	GT:AD:DP:GQ:PL	0/1:60,75:135:99:1861,0,1325	5	0	2	0
chr13	41865758	41865758	A	C	exonic	VWA8	.	nonsynonymous SNV	VWA8:NM_001009814:exon12:c.T1403G:p.I468R,VWA8:NM_015058:exon12:c.T1403G:p.I468R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.422	0.0529848170376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.193	0.30436	T	0.564	0.38410	P	0.633	0.51840	P	0.000000	0.84330	D	0.049566	1	0.81001	D	1.32	0.33002	L	0.99	0.41750	T	-4.18	0.75854	D	0.813	0.83678	-0.8799	0.49770	T	0.155	0.48568	T	10	0.9266692	0.92014	D	0.052985	0.65289	D	0.422	0.73078	0.813	0.92857	0.253726318573	0.24972	0.7712940886209584	0.77079	0.366955075449	0.38266	0.431478142738	0.29410	T	0.214297	0.57585	T	0.173074	0.71405	D	0.0108322	0.71036	D	0.983436346054077	0.75103	D	0.935906	0.78031	D	0.62003535	0.73765	0.5816988	0.75752	0.62003535	0.73766	0.5816988	0.75753	-15.627	0.97148	D	.	.	0.280	0.53899	B	.;.	.;.	3.862502	0.56023	23.7	0.98306990908708591	0.40106	0.98001	0.78774	D	AEFBI	0.742519	0.68611	D	0.316906405902841	0.57015	3.867527	0.361442200710862	0.59202	4.095898	0.999750226676675	0.42595	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.3	4.12	0.47504	6.177000	0.71893	7.075000	0.57453	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.9279:0.0:0.0721:0.0	11.288	0.48467	856	0.34373	ATPase, dynein-related, AAA domain|AAA+ ATPase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	279.83	24	chr13	41865758	.	A	C	279.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.347;DP=186;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.077;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1125	6	0	1	0
chr13	42303096	42303096	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4350C:p.E1450D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0317518443811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.0	0.92824	D	0.046	0.21875	B	0.04	0.23831	B	0.002236	0.36970	N	0.258788	0.999802	0.20292	N	2.35	0.67516	M	0.63	0.53088	T	-0.98	0.25986	N	0.158	0.16447	-0.9998	0.29973	T	0.101	0.37443	T	10	0.07147744	0.10542	T	0.031752	0.53753	D	0.043	0.11576	0.193	0.10437	0.387475297304	0.38358	0.24412387893795467	0.24326	0.0536418645846	0.05925	0.276347875595	0.06989	T	0.015482	0.12979	T	-0.216966	0.18409	T	-0.549433	0.17381	T	0.154120936989784	0.17427	T	0.60444	0.22695	T	0.070583634	0.15560	0.053213075	0.08918	0.070583634	0.15559	0.053213075	0.08918	-3.609	0.17987	T	.	.	0.104	0.18705	B	.	.	-0.436613	0.02079	0.193	0.89464399913280646	0.18819	0.23250	0.22015	N	AEFBCI	0.138667	0.26003	N	-1.04216664049654	0.07742	0.3606713	-1.15099279227403	0.06750	0.3259806	0.997690503067831	0.35915	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-3.37	0.04591	-0.421000	0.07118	0.185000	0.15676	-0.113000	0.14837	0.000000	0.06391	0.001000	0.17328	0.020000	0.11549	0.4718:0.0967:0.3341:0.0974	4.234	0.10068	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	365.36	37	chr13	42303096	.	G	C	365.36	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.49;DP=489;ExcessHet=0.3476;FS=224.175;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.47;ReadPosRankSum=1.99;SOR=7.7	GT:AD:DP:GQ:PL	0/0:121,5:150:99:307,380,4714	6	0	1	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	599.43	61	chr13	42303097	.	G	C	599.43	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.816;DP=548;ExcessHet=4.7409;FS=227.48;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=1.35;ReadPosRankSum=1.65;SOR=9.17	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:121,24:150:99:.:.:307,0,4173:.	2	0	5	0
chr13	44574569	44574569	-	TGC	exonic	TSC22D1	.	nonframeshift insertion	TSC22D1:NM_001243799:exon1:c.1505_1506insGCA:p.Q509_P510insQ,TSC22D1:NM_183422:exon1:c.1505_1506insGCA:p.Q509_P510insQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	.	0.0002	0.0001	0.0002	0	0.0002	0.0002	0	0.0002	3.84e-05	1	26028	rs778348325	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0002	0.0006	0.0004	9.407e-05	0.0003	3.833e-05	7.565e-05	9.401e-05	0.0012	0.0002	0.0002	0.0004	0.0003	0.0003	0.0002	0.0003	0.0013	0.0002	0.0002	0.0009	0.0007	0.0001	0	0.0013	0.0003	0.0004	9.454e-05	0.0034	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1748.45	41	chr13	44574569	.	T	TTGC	1748.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.19;DP=361;ExcessHet=0;FS=6.219;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.34;ReadPosRankSum=0.637;SOR=0.32	GT:AD:DP:GQ:PL	0/1:60,47:107:99:1759,0,2211	6	0	1	0
chr13	46895722	46895722	G	T	exonic	HTR2A	.	stopgain	HTR2A:NM_000621:exon2:c.C185A:p.S62X,HTR2A:NM_001378924:exon2:c.C185A:p.S62X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136357	0.18449	N	0.494436	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.893	0.89242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518762	0.94859	D	0.507389	0.94782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.	High;High;.	8.848748	0.98108	38	0.99510317709855978	0.68558	0.87896	0.47596	D	AEFBI	0.048264	0.08217	N	0.79143061957133	0.85567	8.614413	0.652908153675004	0.78827	6.955367	0.99999678137226	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.7	5.7	0.88690	3.209000	0.50824	9.906000	0.82388	0.676000	0.76740	0.790000	0.29595	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	15.347	0.74059	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	437.44	33	chr13	46895722	.	G	T	437.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.422;DP=325;ExcessHet=0;FS=89.006;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.12;ReadPosRankSum=-0.056;SOR=6.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,104,1256:.	6	0	1	0
chr13	48459808	48459808	T	C	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon20:c.T2081C:p.L694P	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.976	0.602785562062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	5.093e-05	2.774e-06	0	1.836e-06	2.3e-07	9e-08	3.1e-07	1.1e-07	0	0	0	0	0	0	1.836e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	1	0.81001	D	3.345	0.91022	M	-3.77	0.95595	D	-6.07	0.89871	D	0.984	0.99337	1.097	0.99525	D	0.943	0.98136	D	10	0.9566928	0.95037	D	0.602786	0.96508	D	0.976	0.99783	0.78	0.90465	0.995699770876	0.99565	0.980477162488264	0.98038	1.68776258327	0.90085	0.897795319557	0.96192	D	0.975174	0.99754	D	0.560843	0.96253	D	0.567835	0.96194	D	0.999335587024689	0.97004	D	0.909909	0.68110	D	0.9948388	0.99958	0.97334516	0.99602	0.9948388	0.99958	0.97334516	0.99602	-13.406	0.90966	D	0.9398642061341252	0.97687	0.998	0.97486	P	.;.	.;.	5.226627	0.87722	29.3	0.99926600234762908	0.99103	0.97876	0.77794	D	AEFBI	0.964519	0.98666	D	0.915122981473785	0.92480	11.44748	0.844938188139194	0.92718	11.58983	0.999996381698106	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.674000	0.83146	7.932000	0.75071	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.564	0.76018	726	0.54788	Retinoblastoma-associated protein, B-box|Cyclin-like|Cyclin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	257.6	65	chr13	48459808	.	T	C	257.6	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.879;DP=428;ExcessHet=3.1439;FS=244.247;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.1;SOR=9.044	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1251	2	0	4	1
chr13	49482808	49482808	A	G	exonic	SETDB2;SETDB2-PHF11	.	nonsynonymous SNV	SETDB2:NM_001160308:exon9:c.A1228G:p.M410V,SETDB2:NM_001320699:exon9:c.A1228G:p.M410V,SETDB2-PHF11:NM_001320727:exon9:c.A1228G:p.M410V,SETDB2:NM_031915:exon10:c.A1264G:p.M422V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00855278507866	.	.	8.321e-06	0	0	0	0	1.514e-05	0	0	6.5e-06	1	154602	rs778526695	1.576e-05	1.573e-05	1.227e-05	1.927e-05	0.0002	1.049e-05	8.76e-06	1.297e-05	1.107e-05	0	0	0	0	0	0.0002	1.981e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.812	0.03020	T	1.0	0.01155	T	0.002	0.09854	B	0.003	0.08700	B	0.168408	0.17448	N	0.613955	0.999774	0.20412	N	1.045	0.26769	L	1.36	0.34452	T	0.7	0.02163	N	0.074	0.04790	-0.8110	0.54490	T	0.388	0.74312	T	10	0.05561936	0.06108	T	0.008553	0.22606	T	0.086	0.25016	0.452	0.51448	0.115124310173	0.11017	0.673299613945574	0.67267	0.234792991846	0.26015	0.307211339474	0.11486	T	0.008992	0.08979	T	-0.250827	0.13996	T	-0.598072	0.12973	T	0.00810955185443163	0.00097	T	0.534647	0.17878	T	0.027369328	0.01919	0.04607731	0.06342	0.027369328	0.01918	0.04607731	0.06341	-2.319	0.04761	T	.	.	0.059	0.02228	B	.;.;.;.	.;.;.;.	0.287565	0.06639	3.138	0.31773090489465733	0.01807	0.06006	0.11970	N	AEFBI	0.034173	0.04186	N	-0.690321657121716	0.16295	0.8290093	-0.575948256847162	0.20121	1.082634	0.71088018349685	0.22818	0.732398	0.92422	0	0.743671	0.97443	0	0.618467	0.43123	0	0.683762	0.67416	0	.	.	5.47	1.58	0.22557	1.109000	0.30749	0.881000	0.22395	0.756000	0.94297	0.402000	0.26186	0.641000	0.25915	0.893000	0.43066	0.4823:0.0:0.3382:0.1796	3.275	0.06489	838	0.37812	SET domain|SET domain|SET domain;SET domain|SET domain;.;SET domain|SET domain|SET domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	244.63	28	chr13	49482808	.	A	G	244.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.412;DP=207;ExcessHet=0;FS=1.518;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.74;ReadPosRankSum=0.161;SOR=0.586	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1202	6	0	1	0
chr13	50015883	50015883	-	A	exonic	KCNRG	.	frameshift insertion	KCNRG:NM_173605:exon1:c.391dupA:p.T132Nfs*3,KCNRG:NM_199464:exon1:c.391dupA:p.T132Nfs*3	.	431	1083	8	0	0	8	0.00367985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.471e-05	0	0	0	0	4.496e-05	0	0	1.94e-05	3	154602	rs780873281	5.883e-05	5.883e-05	6.806e-05	4.95e-05	0.0009	4.876e-05	4.496e-05	0.0003	0.0002	0	0.0002	0	0	1.872e-05	0.0009	5.576e-05	0.0001	3.478e-05	2.629e-05	2.627e-05	5.138e-05	0	0.0001	8.14e-06	5.14e-06	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001036	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1891.4	129	chr13	50015883	.	C	CA	1891.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.024;DP=330;ExcessHet=0;FS=6.613;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=-0.935;SOR=0.838	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1229	6	0	1	0
chr13	50945445	50945445	G	A	exonic	RNASEH2B	.	nonsynonymous SNV	RNASEH2B:NM_001142279:exon7:c.G529A:p.A177T,RNASEH2B:NM_024570:exon7:c.G529A:p.A177T	Aicardi-Goutieres syndrome 2, Autosomal recessive	0	1515	5	2	0	9	0.0029615	.	.	YES	16301	Inborn_genetic_diseases|Aicardi_Goutieres_syndrome|not_provided|Autism_spectrum_disorder|Aicardi-Goutieres_syndrome_2|RNASEH2B-related_disorder|Cerebral_palsy|Abnormality_of_the_nervous_system	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018866,MedGen:C0393591,OMIM:PS225750,Orphanet:51|MedGen:C3661900|MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586,Orphanet:106|MONDO:MONDO:0012429,MedGen:C3489724,OMIM:610181,Orphanet:51|.|Human_Phenotype_Ontology:HP:0100021,MONDO:MONDO:0006497,MedGen:C0007789|Human_Phenotype_Ontology:HP:0000707,Human_Phenotype_Ontology:HP:0001333,Human_Phenotype_Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.614	0.221342489028	0.0020	0.000199681	0.0013	0.0002	0.0004	0	0.0002	0.0019	0.0011	0.0013	0.0014165	219	154602	rs75184679	0.0021	0.0021	0.0021	0.0021	0.0024	0.0020	0.0020	0.0024	0.0023	0.0004	0.0009	0.0002	0	7.492e-05	0.0021	0.0024	0.0018	0.0015	0.0015	0.0015	0.0015	0.0014	0.0026	0.0013	0.0012	0.0020	0.0019	0.0003	0	0.0026	0.0003	0	0.0002	0	0.0023	0.0028	0.0008	0.219	0.19023	T	0.196	0.60972	T	0.988	0.62325	D	0.886	0.62898	P	0.000012	0.62929	D	0.148357	0.933693	0.37063	A	2.74	0.80084	M	-3.97	0.96243	D	-1.77	0.41809	N	0.787	0.78356	0.949	0.96385	D	0.921	0.97395	D	9	0.051852375	0.05129	T	0.221342	0.87801	D	0.614	0.84932	.	.	0.892929291226	0.89187	0.38263978777403707	0.38178	0.0592956091036	0.06588	0.465158879757	0.34017	T	0.494471	0.81760	T	0.00436128	0.52254	T	0.231067	0.84721	D	0.0755362726815668	0.09406	T	0.863614	0.55989	D	0.3460739	0.56759	0.2921717	0.55244	0.3015534	0.53044	0.2830488	0.54294	-4.08	0.24994	T	0.218766636552003	0.29465	0.116	0.28435	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.844995	0.37545	20.5	0.99673558120069894	0.78782	0.81897	0.41212	D	AEFBI	0.440385	0.49897	N	0.372666509330446	0.59944	4.178436	0.284531613780402	0.54636	3.628017	0.999567181338769	0.40425	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.78	5.78	0.91418	4.693000	0.61438	7.577000	0.60860	0.676000	0.76740	0.992000	0.37556	1.000000	0.68203	0.892000	0.42986	0.0:0.0:1.0:0.0	17.508	0.87646	847	0.35998	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	2119.44	35	chr13	50945445	.	G	A	2119.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.254;DP=367;ExcessHet=0;FS=0.555;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.728;SOR=0.78	GT:AD:DP:GQ:PL	0/1:82,94:176:99:2130,0,1896	6	0	1	0
chr13	52460946	52460946	C	A	exonic	CKAP2	.	nonsynonymous SNV	CKAP2:NM_001098525:exon3:c.C206A:p.T69N,CKAP2:NM_001286686:exon3:c.C59A:p.T20N,CKAP2:NM_001286687:exon3:c.C203A:p.T68N,CKAP2:NM_018204:exon3:c.C203A:p.T68N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0113888671896	.	.	8.306e-06	0	0	0	0	1.516e-05	0	0	6.5e-06	1	154602	rs765710419	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.16e-05	6.597e-06	6.571e-06	0	1.353e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.033	0.44358	D	0.12	0.46182	T	0.96	0.55278	D	0.663	0.52893	P	0.093613	0.20215	N	0.515192	1	0.08975	N	2.015	0.55033	M	1.4	0.33630	T	-1.6	0.54546	N	0.245	0.27673	-0.9974	0.30646	T	0.122	0.42420	T	10	0.13341239	0.25393	T	0.011389	0.28966	T	0.059	0.16972	0.144	0.04746	0.30212335484	0.29822	0.09200176115005544	0.09133	0.204409147722	0.22864	0.339440405369	0.16354	T	0.262224	0.63377	T	-0.276782	0.11012	T	-0.635354	0.10012	T	0.20604388585921	0.20745	T	0.69643	0.32034	T	0.053467706	0.10121	0.07035411	0.14936	0.053467706	0.10121	0.07035411	0.14935	-3.021	0.12298	T	.	.	0.104	0.28521	B	.;.;.;.;.	.;.;.;.;.	2.023578	0.25718	16.86	0.97557119736330944	0.34598	0.06068	0.12040	N	AEFBI	0.039558	0.05762	N	-0.25626111795242	0.30854	1.724378	-0.457053333511642	0.23349	1.272842	0.999554789351591	0.40362	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.88	1.7	0.23359	0.041000	0.13813	1.018000	0.23383	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.032000	0.13371	0.447:0.4655:0.0:0.0875	6.686	0.22333	612	0.66786	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2430.46	34	chr13	52460946	.	C	A	2430.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.805;DP=416;ExcessHet=0;FS=3.165;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.113;SOR=0.504	GT:AD:DP:GQ:PL	0/1:98,106:204:99:2441,0,2393	6	0	1	0
chr13	52666878	52666878	A	G	exonic	SUGT1	.	nonsynonymous SNV	SUGT1:NM_006704:exon10:c.A586G:p.I196V,SUGT1:NM_001130912:exon11:c.A682G:p.I228V,SUGT1:NM_001320831:exon11:c.A418G:p.I140V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	7.7e-05	0.00139776	0.0009	0	0	0	0.0125	0.0004	0.0011	0	0.0007568	117	154602	rs187331422	0.0005	0.0005	0.0005	0.0005	0.0001	0.0005	0.0005	0.0001	0.0001	0	2.237e-05	0	2.53e-05	0.0102	0	0.0001	0.0004	0	0.0010	0.0010	0.0006	0.0014	0.0003	0.0009	0.0008	0.0002	0.0002	0	0	0	0	0	0.0119	0	0.0003	0.0019	0	0.129	0.26852	T	0.241	0.24334	T	0.033	0.20350	B	0.116	0.31939	B	0.000000	0.84330	N	0.087510	1	0.81001	D	.	.	.	2.12	0.19726	T	-0.67	0.19297	N	0.309	0.39052	-1.1145	0.02710	T	0.047	0.20156	T	10	0.005187571	0.00113	T	.	.	.	0.088	0.25558	.	.	0.215239754934	0.21150	0.40788190115079853	0.40704	0.239585080843	0.26507	0.302658766508	0.10798	T	0.067266	0.33158	T	-0.499681	0.00574	T	-0.520613	0.20232	T	0.0500240707186785	0.05504	T	0.813419	0.47040	T	0.09245762	0.21692	0.08365304	0.19188	0.09245762	0.21692	0.08365304	0.19187	-6.032	0.46546	T	.	.	0.065	0.02012	B	.;.	.;.	1.337291	0.17432	13.16	0.99460583265131297	0.65788	0.85417	0.44548	D	AEFDBI	0.192023	0.31920	N	-0.130364229868667	0.36075	2.08036	0.00600329024373491	0.39992	2.379797	0.999617162173817	0.40981	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	6.07	4.9	0.63643	1.345000	0.33558	0.698000	0.20823	0.756000	0.94297	0.999000	0.42656	0.023000	0.20922	0.949000	0.49496	0.9283:0.0:0.0717:0.0	11.318	0.48642	356	0.85138	CS domain|CS domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	409.49	45	chr13	52666878	.	A	G	409.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.11;DP=193;ExcessHet=0;FS=1.154;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=-0.125;SOR=0.99	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,984	6	0	1	0
chr13	52846516	52846516	C	T	exonic	PCDH8	.	nonsynonymous SNV	PCDH8:NM_002590:exon1:c.G1921A:p.A641T,PCDH8:NM_032949:exon1:c.G1921A:p.A641T	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.0672970058432	7.8e-05	.	6.097e-05	0	0.0003	0	0	0	0	0.0002	3.88e-05	6	154602	rs151188907	2.838e-05	2.805e-05	2.756e-05	2.922e-05	0.0005	2.112e-05	1.901e-05	0.0001	9.247e-05	0	0.0002	0	0	0	0.0005	2.072e-05	0	5.842e-05	3.939e-05	3.937e-05	2.569e-05	5.37e-05	7.351e-05	1.714e-05	1.129e-05	2.847e-05	1.858e-05	0	0	6.53e-05	0	0	0	0	7.351e-05	0	0	0.219	0.19023	T	0.065	0.45110	T	0.976	0.58310	D	0.908	0.64494	P	0.105311	0.19664	N	0.365054	0.989593	0.40984	D	2.815	0.81989	M	0.53	0.55090	T	-2.1	0.47852	N	0.356	0.44090	-0.2606	0.76071	T	0.346	0.71115	T	10	0.46754757	0.59663	T	0.067297	0.70124	D	0.236	0.53931	.	.	0.476205827853	0.47248	0.49865962390258284	0.49786	.	.	0.844876587391	0.88838	D	0.238662	0.60661	T	-0.266011	0.12204	T	-0.318161	0.42777	T	0.658953130245209	0.38850	D	0.819918	0.47811	T	0.20367062	0.42451	0.24913181	0.50477	0.20367062	0.42451	0.24913181	0.50476	-12.46	0.87283	D	.	.	0.126	0.26607	B	.;.	.;.	4.114254	0.61441	24.3	0.99764192980961741	0.85335	0.99338	0.94702	D	AEFDBHCI	0.337138	0.43503	N	0.415056578575425	0.62248	4.437833	0.296869216897194	0.55357	3.698749	0.999999998712747	0.74766	0.59774	0.34471	0	0.615948	0.52940	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.08	3.19	0.35720	2.210000	0.42455	1.021000	0.23405	0.596000	0.33519	1.000000	0.71638	0.118000	0.22871	0.838000	0.39538	0.1655:0.8345:0.0:0.0	12.747	0.56662	372	0.84213	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	715.44	31	chr13	52846516	.	C	T	715.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.369;DP=264;ExcessHet=0;FS=5.098;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-1.783;SOR=0.762	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1252	6	0	1	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F,KLHL1:NM_020866:exon5:c.C1054T:p.L352F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	214.14	80	chr13	69882456	.	G	A	214.14	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.587;DP=670;ExcessHet=3.1439;FS=184.8;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=1.12;SOR=10.665	GT:AD:DP:GQ:PL	0/0:92,30:133:6:0,6,1420	2	0	4	1
chr13	69975774	69975774	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_020866:exon2:c.C526T:p.P176S	.	439	1071	12	0	0	12	0.00557103	.	.	.	2813925	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.071	0.0186134777311	0.0046	0.00259585	0.0062	0.0010	0.0013	0	0.0041	0.0086	0.0055	0.0077	0.0059249	916	154602	rs35781936	0.0059	0.0059	0.0058	0.0061	0.0075	0.0058	0.0058	0.0071	0.0069	0.0009	0.0014	0.0037	5.076e-05	0.0044	0.0058	0.0065	0.0055	0.0075	0.0044	0.0044	0.0049	0.0039	0.0079	0.0042	0.0040	0.0066	0.0064	0.0011	0	0.0029	0.0049	0	0.0030	0.0136	0.0071	0.0047	0.0079	0.237	0.17881	T	0.808	0.03968	T	0.035	0.20614	B	0.01	0.14941	B	0.114898	0.19257	N	0.442920	0.500829	0.81001	D	1.5	0.37844	L	-0.48	0.70249	T	0.34	0.03824	N	0.15	0.15328	-0.9753	0.36059	T	0.140	0.45979	T	10	0.0050211847	0.00108	T	0.018613	0.40730	T	0.071	0.20720	.	.	0.744494723672	0.74219	0.3009362953873672	0.30006	0.0612629918304	0.06824	0.441181719303	0.30738	T	0.045091	0.27016	T	-0.500043	0.00571	T	-0.486208	0.23790	T	0.00255650706840089	0.00027	T	0.565643	0.19997	T	0.032078654	0.03165	0.057351395	0.10409	0.032078654	0.03164	0.057351395	0.10408	-3.074	0.11000	T	.	.	0.069	0.03231	B	.	.	1.169383	0.15592	11.96	0.66844114183205461	0.08178	0.87928	0.47641	D	AEFBI	0.315902	0.42034	N	-0.571769058665966	0.19806	1.039495	-0.402418453437752	0.24926	1.367759	0.800319672161777	0.24174	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.68	3.96	0.45097	1.714000	0.37580	3.853000	0.40098	-0.185000	0.09859	0.989000	0.36753	1.000000	0.68203	0.390000	0.26558	0.1443:0.0:0.8557:0.0	11.035	0.47010	948	0.11499	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.004076	0.005848	0.000000	0.000000	0.015244	0.011364	0.08333	947.27	33	chr13	69975774	.	G	A	947.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.261;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-1.007;SOR=0.657	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	5	0	1	1
chr13	71866690	71866690	G	A	exonic	DACH1	.	nonsynonymous SNV	DACH1:NM_001366712:exon1:c.C80T:p.S27F,DACH1:NM_004392:exon1:c.C80T:p.S27F,DACH1:NM_080759:exon1:c.C80T:p.S27F,DACH1:NM_080760:exon1:c.C80T:p.S27F	.	356	1164	2	0	0	2	0.000858369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0363672514815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.292e-06	4.788e-06	3.02e-06	1.546e-06	0.0004	6.1e-07	1.7e-07	6.994e-05	2.919e-05	0	0	0	0	0	0.0004	0	1.894e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	0.984	0.60733	D	0.919	0.65474	D	0.001160	0.40056	U	0.000000	0.650618	0.32960	D	0.695	0.17993	N	.	.	.	.	.	.	0.363	0.40465	-0.7166	0.59629	T	0.123	0.42483	T	10	0.23526832	0.40584	T	0.036367	0.56945	D	.	.	0.207	0.12356	0.193917141947	0.19028	0.2719581692158825	0.27108	.	.	0.904740869999	0.96948	D	0.160103	0.50382	T	-0.0591163	0.43045	T	-0.322693	0.42279	T	0.746822595596313	0.43109	D	0.808919	0.45897	T	0.18090226	0.39235	0.22480561	0.47404	0.18090226	0.39234	0.22480561	0.47403	-8.55	0.64904	D	.	.	0.451	0.67861	A	.;.;.;.	.;.;.;.	4.610065	0.73095	25.9	0.9933692176011506	0.60012	0.91615	0.53899	D	AEFDBCI	0.744283	0.68732	D	0.377793504597334	0.60220	4.208632	0.348856508397047	0.58438	4.014355	0.999999985486328	0.74766	0.495885	0.18260	0	0.475579	0.06741	0	0.608004	0.38603	0	0.249971	0.05119	0	.	.	3.22	3.22	0.36041	3.774000	0.55048	10.667000	0.83547	0.673000	0.70640	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	14.558	0.67706	940	0.13648	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	526.83	33	chr13	71866690	.	G	A	526.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.885;DP=212;ExcessHet=0;FS=2.75;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.039;SOR=0.481	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1150	6	0	1	0
chr13	72744992	72744992	A	T	exonic	BORA	.	stopgain	BORA:NM_001366664:exon6:c.A370T:p.R124X,BORA:NM_001286747:exon7:c.A313T:p.R105X,BORA:NM_001286746:exon8:c.A523T:p.R175X,BORA:NM_024808:exon8:c.A523T:p.R175X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.083122	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.936	0.95725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619807	0.98345	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	8.501412	0.97644	37	0.99776912857367661	0.86433	0.98700	0.85746	D	AEBI	0.124183	0.24013	N	1.15896281980096	0.99083	20.59423	1.0309930599886	0.99141	20.87509	0.999999990120005	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.07	6.07	0.98675	6.852000	0.75227	7.989000	0.76104	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.641	0.84955	936	0.14734	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	40.63	24	chr13	72744992	.	A	T	40.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.022;DP=172;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.13;ReadPosRankSum=-1.087;SOR=0.18	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1185:.	6	0	1	0
chr13	72744993	72744993	G	T	exonic	BORA	.	nonsynonymous SNV	BORA:NM_001366664:exon6:c.G371T:p.R124I,BORA:NM_001286747:exon7:c.G314T:p.R105I,BORA:NM_001286746:exon8:c.G524T:p.R175I,BORA:NM_024808:exon8:c.G524T:p.R175I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.090650722597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.005	0.79402	D	0.853	0.47048	P	0.604	0.50922	P	0.000000	0.84330	D	0.083122	0.999987	0.54805	D	.	.	.	1.38	0.34050	T	-3.21	0.64826	D	0.568	0.60918	-0.5208	0.67884	T	0.314	0.68415	T	10	0.6080594	0.67287	D	0.090651	0.75558	D	0.215	0.50805	.	.	0.568643509186	0.56530	0.5115730534236541	0.51079	1.0738102651	0.76908	0.418216526508	0.27592	T	0.134384	0.46560	T	0.0302844	0.55761	T	-0.194275	0.55188	T	0.985234200954437	0.76288	D	0.956971	0.83666	D	.	.	.	.	.	.	.	.	-3.389	0.14909	T	.	.	0.312	0.53884	B	.;.;.	.;.;.	4.854921	0.79394	27.1	0.9777110931817572	0.35869	0.94857	0.62571	D	AEFBI	0.393376	0.47105	N	0.173558933678382	0.49933	3.188315	0.254619651275823	0.52912	3.463018	0.999979708543476	0.50053	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.17	5.33	0.75683	2.921000	0.48549	7.606000	0.61733	-0.127000	0.13314	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1315:0.0:0.8685:0.0	12.709	0.56447	936	0.14734	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	40.63	24	chr13	72744993	.	G	T	40.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.022;DP=178;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.13;ReadPosRankSum=-0.99;SOR=0.18	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1185:.	6	0	1	0
chr13	72775212	72775212	A	G	exonic	DIS3	.	nonsynonymous SNV	DIS3:NM_001322348:exon5:c.T617C:p.M206T,DIS3:NM_001128226:exon6:c.T896C:p.M299T,DIS3:NM_014953:exon6:c.T986C:p.M329T,DIS3:NM_001322349:exon7:c.T500C:p.M167T	.	427	1089	5	1	0	7	0.00320366	0.0006	0.074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	.	0.00459265	0.0025	0	0	0	0.0002	3.014e-05	0.0033	0.0187	0.002238	346	154602	rs371864555	0.0012	0.0012	0.0007	0.0017	0.0187	0.0011	0.0011	0.0179	0.0176	6.007e-05	0	0	2.523e-05	0	0.0012	3.151e-05	0.0015	0.0187	0.0007	0.0007	0.0004	0.0011	0.0209	0.0006	0.0006	0.0176	0.0164	0.0001	0	0	0	0.0002	0	0	4.412e-05	0.0005	0.0209	0.609	0.06086	T	0.595	0.08390	T	0.0	0.02946	B	0.0	0.01387	B	0.607690	0.05682	N	1.171550	0.999663	0.21182	N	-0.405	0.02972	N	1.56	0.29602	T	-1.09	0.28290	N	0.08	0.08506	-1.0015	0.29488	T	0.051	0.21572	T	10	0.0065302253	0.00148	T	.	.	.	0.057	0.16321	0.408	0.44230	0.505273739051	0.50166	0.36965375735927525	0.36879	0.151737054767	0.17126	0.472794234753	0.35065	T	0.003538	0.02950	T	-0.645479	0.00077	T	-0.685026	0.06681	T	0.0113425917754374	0.00168	T	0.525647	0.17278	T	0.045108676	0.07329	0.054911677	0.09533	0.045108676	0.07328	0.054911677	0.09532	-0.853	0.00850	T	.	.	0.090	0.12560	B	.;.;.	.;.;.	1.098452	0.14827	11.36	0.52543360255439064	0.04768	0.66083	0.32956	D	AEFBI	0.128343	0.24608	N	-0.583509911732741	0.19446	1.017791	-0.44320054520551	0.23742	1.296361	0.99991822946725	0.45857	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.06	3.72	0.41857	0.642000	0.24426	0.664000	0.20530	0.756000	0.94297	0.977000	0.34929	0.016000	0.20520	0.706000	0.34326	0.6877:0.1365:0.1758:0.0	6.359	0.20619	980	0.04108	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	818.53	34	chr13	72775212	.	A	G	818.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.331;DP=225;ExcessHet=0;FS=3.512;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.413;SOR=0.33	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1039:.	6	0	1	0
chr13	73846052	73846052	C	A	exonic	KLF12	.	nonsynonymous SNV	KLF12:NM_007249:exon4:c.G445T:p.V149L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0144186664317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.841	0.46518	P	0.785	0.57495	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.295	0.10161	N	1.76	0.25996	T	0.33	0.03889	N	0.569	0.59223	-1.1512	0.00990	T	0.068	0.27879	T	10	0.40443444	0.55793	T	0.014419	0.34525	T	0.221	0.51721	0.141	0.04462	0.459974577466	0.45620	0.5029666526413271	0.50218	0.172866943843	0.19464	0.769081830978	0.77287	T	0.018451	0.14872	T	-0.00188421	0.51394	T	-0.240483	0.50752	T	0.782384037971497	0.45200	D	0.850515	0.53399	D	0.13013606	0.30375	0.21046701	0.45435	0.13013606	0.30374	0.21046701	0.45434	-2.63	0.06734	T	.	.	0.508	0.64956	A	.	.	3.309946	0.45477	22.1	0.98699623178065521	0.44881	0.97663	0.76248	D	AEFBI	0.638826	0.61710	D	0.268939678744004	0.54580	3.623	0.391264109455773	0.61026	4.297084	0.999999999999998	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	6.02	6.02	0.97559	4.735000	0.61746	5.941000	0.51480	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.529	0.95212	939	0.14249	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	44.44	37	chr13	73846052	.	C	A	44.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.15;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.55;ReadPosRankSum=0.703;SOR=0.818	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1371	6	0	1	0
chr13	76992174	76992174	T	C	exonic	CLN5	.	nonsynonymous SNV	CLN5:NM_001366624:exon1:c.T76C:p.W26R,CLN5:NM_006493:exon1:c.T76C:p.W26R	Ceroid lipofuscinosis, neuronal, 5, Autosomal recessive	1	1495	26	0	0	26	0.00862069	.	.	.	202778	not_provided|Neuronal_ceroid_lipofuscinosis_5|CLN5-related_disorder|Neuronal_ceroid_lipofuscinosis|Inborn_genetic_diseases|not_specified	MedGen:C3661900|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731,Orphanet:168491,Orphanet:228360|.|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.251	0.00466099649959	0.0013	0.000599042	0.0018	0.0003	0.0005	0	0	0.0025	0	0.0022	0.0012742	197	154602	rs199727787	0.0012	0.0012	0.0011	0.0012	0.0164	0.0011	0.0011	0.0134	0.0123	0.0006	0.0003	0.0223	2.529e-05	0	0.0164	0.0005	0.0034	0.0023	0.0012	0.0012	0.0012	0.0013	0.0023	0.0011	0.0010	0.0013	0.0010	0.0003	0	0.0005	0.0242	0	0	0.0171	0.0009	0.0014	0.0023	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	0.074966	0.21251	N	0.503542	1	0.08975	N	0	0.06538	N	.	.	.	.	.	.	.	.	-0.9557	0.39970	T	0.046	0.19760	T	10	0.004347682	0.00088	T	0.004661	0.11566	T	0.251	0.56024	0.614	0.74768	0.328752806141	0.32485	.	.	0.315112313597	0.33798	0.714274346828	0.69213	T	0.073766	0.46340	T	-0.333011	0.05887	T	-0.257291	0.49095	T	0.0035346265132851	0.00037	T	0.272073	0.04599	T	0.08435695	0.19522	0.08009138	0.18088	0.08435695	0.19522	0.08009138	0.18087	-2.851	0.08663	T	.	.	0.121	0.25166	B	.;.;.;.;.;.	.;.;.;.;.;.	0.902027	0.12763	9.278	0.40149424438879883	0.02815	0.06829	0.12853	N	AEFGBHCI	0.038351	0.05414	N	-1.32289881432295	0.03414	0.1524763	-1.40063660044462	0.03246	0.1510322	0.9999999999992	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	3.96	-1.88	0.07294	-0.016000	0.12550	0.602000	0.19937	-0.238000	0.07553	0.012000	0.18695	0.085000	0.22446	0.009000	0.08673	0.1477:0.3857:0.0:0.4666	4.782	0.12574	907	0.22727	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014374	0.005263	0.008174	0.043210	0.000000	0.025862	0.015723	0.007634	0.1429	1147.26	39	chr13	76992174	.	T	C	1147.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.61;DP=287;ExcessHet=0.3476;FS=1.401;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=8.96;ReadPosRankSum=0.423;SOR=0.781	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1072	5	0	2	0
chr13	77000847	77000847	A	C	exonic	CLN5	.	nonsynonymous SNV	CLN5:NM_006493:exon4:c.A955C:p.K319Q	Ceroid lipofuscinosis, neuronal, 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.0309975604048	.	.	1.675e-05	0	0	0	0	3.056e-05	0	0	1.29e-05	2	154602	rs202171514	8.957e-06	8.893e-06	1.096e-05	6.932e-06	0.0002	5e-06	3.85e-06	4.56e-06	3.33e-06	0	0	0	0	0	0.0002	9.022e-06	3.339e-05	0	6.569e-06	6.567e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	0.096	0.25489	B	0.067	0.27542	B	0.000002	0.62929	D	0.120503	0.999938	0.19363	N	0.975	0.24501	L	.	.	.	.	.	.	.	.	-0.3063	0.74809	T	0.478	0.80037	T	10	0.15217558	0.28750	T	0.030998	0.53184	D	0.367	0.68670	0.417	0.45709	0.972090864053	0.97178	.	.	0.253864010051	0.27951	0.27060008049	0.06220	T	0.115364	0.84445	T	-0.0984649	0.36680	T	-0.269156	0.47904	T	0.140938518588941	0.16357	T	0.282772	0.04965	T	0.2714083	0.50212	0.07911515	0.17781	0.2714083	0.50212	0.07911515	0.17781	-3.077	0.11033	T	0.3320439027099558	0.43003	0.102	0.18206	B	.;.	.;.	3.347212	0.46151	22.3	0.96179808622985419	0.28957	0.90538	0.51796	D	AEFDGBI	0.383512	0.46499	N	-0.127137288819513	0.36214	2.090219	0.0687928471671169	0.42989	2.610112	0.999999999125488	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.463624	0.06942	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.736000	0.61753	11.210000	0.89365	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.8219:0.1781:0.0:0.0	12.456	0.55043	900	0.24599	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1624.53	33	chr13	77000847	.	A	C	1624.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.6;DP=270;ExcessHet=0;FS=7.112;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.47;ReadPosRankSum=-3.419;SOR=1.449	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,100,1099:.	6	0	1	0
chr13	77753329	77753329	G	A	exonic	SLAIN1	.	nonsynonymous SNV	SLAIN1:NM_001242870:exon3:c.G188A:p.G63E,SLAIN1:NM_001242869:exon4:c.G188A:p.G63E,SLAIN1:NM_001242871:exon4:c.G527A:p.G176E,SLAIN1:NM_144595:exon4:c.G530A:p.G177E,SLAIN1:NM_001040153:exon5:c.G893A:p.G298E,SLAIN1:NM_001242868:exon5:c.G1385A:p.G462E,SLAIN1:NM_001366666:exon5:c.G530A:p.G177E,SLAIN1:NM_001366665:exon6:c.G1043A:p.G348E	.	452	1066	4	0	0	4	0.00187266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.00929951636696	.	0.000199681	0.0001	0	8.864e-05	0	0	3.091e-05	0	0.0006	9.06e-05	14	154602	rs551950144	5.625e-05	5.678e-05	3.55e-05	7.722e-05	0.0009	4.623e-05	4.248e-05	0.0005	0.0004	0	0	0	0	0	0.0009	1.621e-05	9.97e-05	0.0006	2.629e-05	2.625e-05	2.572e-05	2.689e-05	0.0004	8.14e-06	5.14e-06	7.299e-05	3.032e-05	0	0	6.547e-05	0	0	0	0	1.471e-05	0	0.0004	0.04	0.51248	D	0.046	0.62352	D	0.884	0.48618	P	0.586	0.50343	P	0.000124	0.49741	D	0.170352	0.887046	0.27949	N	1.955	0.52871	M	.	.	.	-1.98	0.45769	N	0.44	0.49783	-1.0453	0.15738	T	0.104	0.38267	T	9	0.051753104	0.05104	T	0.009	0.24413	T	0.129	0.35316	0.179	0.08626	0.043077524339	0.03247	0.3349875054027211	0.33411	0.985488010302	0.73883	0.454889029264	0.32612	T	0.046735	0.27512	T	-0.232358	0.16338	T	-0.219824	0.52753	T	0.114447645481105	0.13879	T	0.936706	0.77406	D	0.12765439	0.29866	0.20478088	0.44617	0.12765439	0.29866	0.20478088	0.44616	-4.676	0.44435	T	.	.	0.401	0.63932	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.812596	0.55007	23.6	0.99546669085951789	0.70836	0.89938	0.50737	D	AEFBI	0.599086	0.59224	D	0.0725616872476598	0.45186	2.779374	0.143805335062876	0.46815	2.921375	0.301890619433088	0.19197	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	5.25	3.49	0.39065	4.177000	0.58072	8.138000	0.76675	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.076:0.2999:0.6242:0.0	9.162	0.36194	146	0.94180	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	99.46	21	chr13	77753329	.	G	A	99.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.34;DP=140;ExcessHet=0;FS=2.172;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.74;ReadPosRankSum=-0.992;SOR=1.609	GT:AD:DP:GQ:PL	0/0:23,0:23:60:0,60,900	6	0	1	0
chr13	78602133	78602153	CCGCCGCCCGGGCCGCCGCCG	-	exonic	POU4F1	.	nonframeshift deletion	POU4F1:NM_006237:exon2:c.522_542del:p.G175_G181del	.	605	916	1	0	0	1	0.000545554	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1163245473	6.677e-05	2.138e-05	6.457e-05	6.913e-05	3.748e-05	1.105e-05	4.13e-06	.	.	0	0	0	0	0	0	3.748e-05	0.0010	0	8.432e-05	8.157e-05	8.192e-05	8.686e-05	0.0019	4.787e-05	3.742e-05	0.0010	0.0008	0	0	6.911e-05	0	0	0	0	3.096e-05	0	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	238.1	2	chr13	78602132	.	CCCGCCGCCCGGGCCGCCGCCG	C	238.1	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.282;DP=27;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=26.46;ReadPosRankSum=0.812;SOR=0.941	GT:AD:DP:GQ:PL	0/0:7,0:7:15:0,15,225	5	0	1	1
chr13	78617030	78617030	T	C	exonic	OBI1	.	nonsynonymous SNV	OBI1:NM_024546:exon6:c.A731G:p.D244G	.	417	1095	3	0	7	10	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319	0.00972581034681	.	0.000798722	0.0011	0	0	0	0	0.0001	0.0011	0.0074	0.0008603	133	154602	rs570836832	0.0005	0.0005	0.0003	0.0007	0.0064	0.0005	0.0005	0.0060	0.0058	5.978e-05	4.474e-05	0	2.519e-05	0	0.0024	0.0001	0.0006	0.0064	0.0002	0.0002	0.0002	0.0003	0.0046	0.0002	0.0001	0.0031	0.0026	4.81e-05	0	6.533e-05	0	0	0	0.0068	8.818e-05	0	0.0046	0.0	0.91255	D	0.007	0.69154	D	1.0	0.90584	D	0.998	0.88582	D	0.000158	0.49130	D	0.179024	0.999998	0.58761	D	2.215	0.62545	M	.	.	.	-3.34	0.66325	D	0.751	0.75009	-0.1881	0.77976	T	0.419	0.76476	T	9	0.0128490925	0.00275	T	0.009726	0.25404	T	0.319	0.64112	0.2	0.11384	0.809070757708	0.80728	0.4156072449191975	0.41476	0.292689891188	0.31689	0.687154173851	0.65297	T	0.438365	0.78405	T	0.0374092	0.56706	T	0.283849	0.87330	D	0.0823630783836047	0.10287	T	0.913309	0.69109	D	0.5710109	0.71116	0.66826916	0.80542	0.5710109	0.71117	0.66826916	0.80543	-11.891	0.84315	D	.	.	0.946	0.86453	P	.	.	4.663156	0.74453	26.2	0.99790746826106391	0.87661	0.98607	0.84635	D	AEFBI	0.875270	0.79859	D	0.814025393453059	0.86975	9.061182	0.822640626126498	0.91322	10.82813	0.999999999971698	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	6.917000	0.75604	7.947000	0.75742	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.822	0.85699	653	0.62661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1024.45	35	chr13	78617030	.	T	C	1024.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.94;DP=301;ExcessHet=0;FS=4.509;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=-0.4;SOR=0.571	GT:AD:DP:GQ:PL	0/1:74,46:120:99:1035,0,1759	6	0	1	0
chr13	79378837	79378837	C	A	exonic	RBM26	.	stopgain	RBM26:NM_001286631:exon2:c.G142T:p.E48X,RBM26:NM_001286632:exon2:c.G142T:p.E48X,RBM26:NM_001366735:exon2:c.G142T:p.E48X,RBM26:NM_022118:exon2:c.G142T:p.E48X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.436	0.47857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.622132	0.98769	D	0.655873	0.98747	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Recessive	.;.;.;High	9.385078	0.98855	41	0.99767953324063507	0.85666	0.99796	0.99525	D	AEFBI	0.280137	0.39403	N	1.20883065492596	0.99628	24.51426	1.06904769376108	0.99573	23.92005	1.0	0.98316	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	7.905000	0.86479	7.702000	0.66341	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.571	0.95412	886	0.28090	.;PWI domain;.;PWI domain	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr13	79378837	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1025	6	1	0	0
chr13	83880509	83880509	T	G	exonic	SLITRK1	.	nonsynonymous SNV	SLITRK1:NM_052910:exon1:c.A999C:p.K333N,SLITRK1:NM_001281503:exon2:c.A999C:p.K333N	Tourette syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0305395739461	.	.	4.125e-05	0	0	0	0	6.004e-05	0	6.058e-05	3.23e-05	5	154602	rs760138011	3.899e-05	3.899e-05	2.859e-05	4.95e-05	0.0023	3.047e-05	2.783e-05	0.0013	0.0011	0	0	0	0	0	0.0023	3.058e-05	3.311e-05	9.275e-05	2.634e-05	2.626e-05	1.288e-05	4.042e-05	0.0001	8.15e-06	5.15e-06	2.263e-05	9.08e-06	0	0	0.0001	0	0	0	0.0034	0	0.0005	0	0.268	0.16144	T	0.385	0.15746	T	0.834	0.46206	P	0.71	0.54502	P	0.000805	0.41658	N	0.269660	0.987198	0.40550	D	1.355	0.33814	L	0.33	0.58323	T	-0.2	0.10136	N	0.071	0.04426	-0.9592	0.39330	T	0.099	0.36856	T	10	0.15369767	0.29006	T	0.03054	0.52827	D	0.175	0.44197	0.46	0.52753	0.552154753999	0.54872	0.532040762923021	0.53129	1.03347403124	0.75493	0.365128874779	0.20130	T	0.095544	0.39643	T	-0.344572	0.05078	T	-0.625073	0.10791	T	0.173365503549576	0.18806	T	0.489851	0.15048	T	0.06572243	0.14072	0.05221238	0.08557	0.06572243	0.14072	0.05221238	0.08557	-4.155	0.26097	T	0.0855648165656027	0.04838	0.159	0.35098	B	.	.	1.511216	0.19414	14.25	0.87463102984498275	0.17245	0.43125	0.27029	N	AEFDBCI	0.095943	0.19377	N	-0.418992973102738	0.24804	1.341887	-0.451687419677359	0.23501	1.281923	0.964213124447331	0.28744	0.65757	0.49021	0	0.547309	0.14657	0	0.619478	0.44681	0	0.564101	0.26826	0	.	.	4.85	-4.26	0.03497	-0.078000	0.11338	-0.417000	0.09309	-0.120000	0.14102	0.665000	0.28304	0.004000	0.18990	0.933000	0.47100	0.0:0.2823:0.3519:0.3659	6.268	0.20145	973	0.05605	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.002518	0.005051	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	1770.46	36	chr13	83880509	.	T	G	1770.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.551;DP=313;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=0.961;SOR=0.676	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1265	6	0	1	0
chr13	96023648	96023648	G	C	exonic	UGGT2	.	nonsynonymous SNV	UGGT2:NM_020121:exon3:c.C353G:p.A118G	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.00752850851458	.	0.00139776	0.0006	0	0	0	0	0	0	0.0044	0.0005239	81	154602	rs574889711	0.0002	0.0002	0.0001	0.0003	0.0036	0.0002	0.0002	0.0033	0.0031	0	0	0	0	0	0	0	0.0004	0.0036	0.0001	0.0001	7.713e-05	0.0002	0.0037	7.577e-05	6.282e-05	0.0024	0.0020	0	0	0	0	0	0	0	0	0	0.0037	0.124	0.54683	T	0.151	0.59732	T	0.077	0.39417	B	0.028	0.38393	B	0.000002	0.62929	D	0.101452	0.521911	0.31562	N	0.805	0.20218	L	3.08	0.31731	T	-1.75	0.49018	N	0.543	0.57006	-0.9102	0.46830	T	0.077	0.30737	T	10	0.00936085	0.00211	T	0.007529	0.19979	T	0.130	0.35528	0.407	0.44066	0.237489013734	0.23353	0.43654031898618306	0.43571	0.0617698166074	0.06879	0.240367591381	0.02823	T	0.017881	0.25416	T	-0.446022	0.01192	T	-0.413327	0.31843	T	0.112813338514751	0.13713	T	0.846215	0.68443	T	0.2101474	0.43303	0.26604	0.52445	0.2101474	0.43303	0.26604	0.52444	-4.998	0.36819	T	.	.	0.128	0.36869	B	.;.;.;.;.;.	.;.;.;.;.;.	4.659363	0.74356	26.1	0.99374432520685518	0.61585	0.97983	0.78628	D	AEFGBI	0.768749	0.70421	D	0.300595233381731	0.56178	3.782321	0.422471672987411	0.62967	4.52153	0.999999897188928	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.58	5.58	0.84361	7.060000	0.76393	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1303:0.8697:0.0	16.553	0.84327	934	0.15400	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1583.44	33	chr13	96023648	.	G	C	1583.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.671;DP=371;ExcessHet=0;FS=1.851;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=0.117;SOR=0.542	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1146	6	0	1	0
chr13	98177234	98177234	C	A	exonic	RNF113B	.	startloss	RNF113B:NM_178861:exon1:c.G3T:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0408152565424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.159e-07	2.052e-06	1.412e-06	0	1.285e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.285e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.936	0.52359	P	0.885	0.62825	P	0.024570	0.26239	U	0.374874	0.999994	0.81001	N	.	.	.	1.65	0.27650	T	-0.68	0.19509	N	0.621	0.63628	-0.9572	0.39699	T	0.129	0.43767	T	9	0.9707128	0.96663	D	0.040815	0.59586	D	0.220	0.51569	0.999	0.99990	0.252162846088	0.24830	0.6159628791300056	0.61528	.	.	.	.	.	0.004898	0.04322	T	-0.0329905	0.46981	T	-0.285165	0.46272	T	0.960350513458252	0.65782	D	0.9	0.65058	D	0.8312756	0.85991	0.55962014	0.74522	0.8312756	0.85992	0.55962014	0.74522	-10.841	0.78778	D	.	.	.	.	.	.	.	2.782294	0.36553	20.3	0.98820910653534155	0.46786	0.03471	0.08627	N	AEFDBCI	0.011857	0.00114	N	-0.330069582580075	0.28010	1.541503	-0.607371360220458	0.19304	1.035066	0.999998240312732	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.467745	0.07146	0	0.714379	0.83352	0	.	.	1.17	1.17	0.19998	0.772000	0.26309	3.543000	0.39013	0.469000	0.21855	0.033000	0.20612	1.000000	0.68203	0.094000	0.17991	0.0:1.0:0.0:0.0	5.682	0.17052	688	0.59122	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	30.59	23	chr13	98177234	.	C	A	30.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.967;DP=179;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1273	6	0	1	0
chr13	98888499	98888499	C	T	exonic	DOCK9	.	nonsynonymous SNV	DOCK9:NM_001130049:exon17:c.G1841A:p.S614N,DOCK9:NM_001130050:exon17:c.G1838A:p.S613N,DOCK9:NM_001366677:exon17:c.G1874A:p.S625N,DOCK9:NM_001366679:exon17:c.G1838A:p.S613N,DOCK9:NM_001366680:exon17:c.G1838A:p.S613N,DOCK9:NM_001366681:exon17:c.G1838A:p.S613N,DOCK9:NM_001366682:exon17:c.G1838A:p.S613N,DOCK9:NM_001366683:exon17:c.G1838A:p.S613N,DOCK9:NM_001366684:exon17:c.G1838A:p.S613N	.	.	.	.	.	.	.	.	.	.	.	2348424	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.00768651509677	0.0002	.	7.456e-05	0.0001	0	0	0	0.0001	0	0	7.12e-05	11	154602	rs373710937	0.0001	0.0001	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0002	2.987e-05	0	0	0	1.873e-05	0	0.0002	3.313e-05	1.159e-05	3.942e-05	3.94e-05	6.423e-05	1.345e-05	5.879e-05	1.715e-05	1.129e-05	1.972e-05	1.124e-05	4.825e-05	0	0	0	0	0	0	5.879e-05	0	0	0.155	0.26629	T	0.324	0.22223	T	0.041	0.21357	B	0.03	0.21741	B	0.133764	0.18539	N	0.617522	0.998052	0.22374	N	.	.	.	2.03	0.20959	T	-1.31	0.32791	N	0.152	0.17002	-0.9923	0.32012	T	0.025	0.10509	T	9	0.0852119	0.14363	T	0.007687	0.20404	T	0.054	0.15330	.	.	0.225033846419	0.22103	0.07240410560808028	0.07177	0.292556345877	0.31669	0.317531436682	0.13047	T	0.027563	0.20159	T	-0.467616	0.00880	T	-0.661165	0.08188	T	0.0230690384095778	0.01032	T	0.918008	0.70480	D	.	.	.	.	.	.	.	.	-5.516	0.44939	T	.	.	0.080	0.10883	B	.;.;.;.;.	.;.;.;.;.	1.049257	0.14305	10.88	0.56256472250581635	0.05513	0.62471	0.31791	D	AEFGBI	0.053742	0.09709	N	-0.983720980616429	0.08950	0.4216941	-0.914217271392734	0.11758	0.6009978	0.999915084749981	0.45857	0.67177	0.52595	0	0.588015	0.36545	0	0.675528	0.61593	0	0.711	0.71501	0	.	.	5.67	0.762	0.17600	1.077000	0.30353	1.416000	0.26322	-0.184000	0.09925	0.991000	0.37257	0.496000	0.25178	0.115000	0.18958	0.0651:0.5092:0.4257:0.0	12.823	0.57087	958	0.09170	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2439.44	35	chr13	98888499	.	C	T	2439.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.501;DP=377;ExcessHet=0;FS=3.466;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=0.027;SOR=0.468	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	6	0	1	0
chr13	99965478	99965478	C	T	exonic	ZIC5	.	nonsynonymous SNV	ZIC5:NM_033132:exon2:c.G1891A:p.A631T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00345718274198	.	.	3.299e-05	0	0	0	0	6.001e-05	0	0	2.59e-05	4	154602	rs766276619	6.157e-06	6.156e-06	4.084e-06	8.252e-06	4.474e-05	2.9e-06	2.1e-06	7.42e-06	2.77e-06	0	4.474e-05	0	0	0	0	4.497e-06	1.656e-05	1.16e-05	1.314e-05	1.313e-05	0	2.691e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.013	0.53900	D	0.155	0.31936	T	0.068	0.23728	B	0.022	0.19653	B	.	.	.	.	0.972736	0.38969	D	2.135	0.59519	M	2.75	0.11622	T	-1.8	0.42384	N	0.114	0.10198	-1.1079	0.03256	T	0.030	0.12848	T	9	0.09726268	0.17504	T	0.003457	0.07817	T	0.053	0.14996	0.393	0.41770	0.241078983079	0.23725	0.34468045457523755	0.34382	.	.	0.396808922291	0.24625	T	0.213093	0.57432	T	-0.292914	0.09345	T	-0.528076	0.19480	T	0.183266083294932	0.19438	T	0.768423	0.39759	T	0.17942446	0.39012	0.22983395	0.48067	0.17942446	0.39012	0.22983395	0.48066	-3.292	0.13634	T	.	.	0.117	0.23570	B	.	.	3.360687	0.46396	22.3	0.99810804304825129	0.89442	0.95839	0.66374	D	AEFDBI	0.309178	0.41555	N	0.0268306464446518	0.43078	2.607834	0.201934150421942	0.49956	3.192706	0.999999999908748	0.74766	0.722319	0.85440	0	0.59043	0.45803	0	0.698795	0.65105	0	0.530356	0.10902	0	.	.	6.06	5.21	0.72005	1.902000	0.39479	2.761000	0.34604	0.599000	0.40250	0.871000	0.30813	0.994000	0.32194	0.991000	0.66497	0.0:0.9295:0.0:0.0705	14.476	0.67128	567	0.70732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	712.53	34	chr13	99965478	.	C	T	712.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.043;DP=229;ExcessHet=0;FS=1.033;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=0.195;SOR=0.527	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,987	6	0	1	0
chr13	99970414	99970434	GGCGGCGGCGGCGGCGGCGGC	-	exonic	ZIC5	.	nonframeshift deletion	ZIC5:NM_033132:exon1:c.1242_1262del:p.P418_P424del	.	146	836	5	0	535	540	0.00298151	.	.	.	725540	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0130	.	0.0092	0	0.0043	0	0.0015	0.0092	0.0167	0.0153	0.0001153	3	26028	rs774118755	0.0091	0.0066	0.0079	0.0104	0.0476	0.0089	0.0089	0.0455	0.0447	0.0018	0.0298	0.0343	0.0005	0.0085	0.0165	0.0074	0.0106	0.0476	0.0052	0.0048	0.0057	0.0047	0.0130	0.0049	0.0048	0.0100	0.0090	0.0010	0	0.0059	0.0121	0.0006	0.0027	0.0290	0.0075	0.0061	0.0130	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2709.6	46	chr13	99970413	.	TGGCGGCGGCGGCGGCGGCGGC	T	2709.6	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.382;DP=287;ExcessHet=0.3696;FS=10.14;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=22.21;ReadPosRankSum=0.76;SOR=1.407	GT:AD:DP:GQ:PL	0/0:1,0:32:99:1188,1201,1235	6	1	0	0
chr13	100368479	100368479	G	T	exonic	PCCA	.	nonsynonymous SNV	PCCA:NM_001352608:exon17:c.G1429T:p.V477F,PCCA:NM_001352612:exon17:c.G562T:p.V188F,PCCA:NM_001127692:exon18:c.G1573T:p.V525F,PCCA:NM_001352606:exon18:c.G1507T:p.V503F,PCCA:NM_001352607:exon18:c.G1573T:p.V525F,PCCA:NM_001352610:exon18:c.G706T:p.V236F,PCCA:NM_001352611:exon18:c.G706T:p.V236F,PCCA:NM_000282:exon19:c.G1651T:p.V551F,PCCA:NM_001178004:exon19:c.G1651T:p.V551F,PCCA:NM_001352605:exon19:c.G1651T:p.V551F,PCCA:NM_001352609:exon19:c.G1651T:p.V551F	Propionicacidemia, Autosomal recessive	35	1422	60	5	0	70	0.024022	.	.	.	47470	Propionic_acidemia|not_provided|not_specified	Human_Phenotype_Ontology:HP:0003571,MONDO:MONDO:0011628,MedGen:C0268579,OMIM:606054,Orphanet:35|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.042	.	0.0061	0.00279553	0.0077	0.0020	0.0058	0.0001	0.0020	0.0106	0.0099	0.0070	0.007846	1213	154602	rs61749895	0.0088	0.0091	0.0087	0.0090	0.0362	0.0087	0.0086	0.0322	0.0306	0.0020	0.0081	0.0100	0	0.0027	0.0362	0.0096	0.0098	0.0068	0.0070	0.0070	0.0066	0.0074	0.0128	0.0066	0.0065	0.0113	0.0107	0.0019	0	0.0128	0.0110	0	0.0023	0.0411	0.0096	0.0157	0.0054	0.51	0.50676	T	0.706	0.54541	T	0.072	0.23997	B	0.059	0.26602	B	0.000666	0.42516	D	0.092028	0.999897	0.19781	N	1.245	0.31408	L	-1.19	0.78427	T	-1.24	0.41428	N	0.253	0.29313	-0.9538	0.40310	T	0.166	0.50486	T	10	0.0050973594	0.00110	T	.	.	.	0.495	0.78036	.	.	0.237489013734	0.23353	0.5414792096076211	0.54072	0.18749610879	0.21068	0.274469137192	0.06733	T	0.405477	0.76164	T	-0.220797	0.17884	T	-0.0795484	0.64938	T	0.002613999720297	0.00027	T	0.686231	0.31753	T	0.10194706	0.24085	0.08496319	0.19583	0.09695565	0.22845	0.07956249	0.17920	-3.107	0.13455	T	0.09290950936720156	0.06056	0.096	0.15385	B	.;.;.;.	.;.;.;.	0.493760	0.08630	5.399	0.58896346874019345	0.06098	0.25735	0.22787	N	AEFGBI	0.246318	0.36709	N	-1.39697904296976	0.02667	0.1180743	-1.37944493398146	0.03472	0.1620144	0.93334498371539	0.27125	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.77	-1.81	0.07456	-0.163000	0.09986	-0.136000	0.11567	-0.678000	0.04252	0.706000	0.28683	0.000000	0.08366	0.310000	0.24737	0.2295:0.0:0.7705:0.0	13.543	0.61143	892	0.26670	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.023162	0.015152	0.031250	0.035088	0.050000	0.008621	0.015244	0.007576	0.07143	304.63	38	chr13	100368479	.	G	T	304.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.969;DP=196;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.02;ReadPosRankSum=-1.701;SOR=0.636	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,939	6	0	1	0
chr13	101229452	101229452	T	C	exonic	NALCN	.	nonsynonymous SNV	NALCN:NM_001350750:exon12:c.A1480G:p.I494V,NALCN:NM_001350751:exon12:c.A1480G:p.I494V,NALCN:NM_001350748:exon13:c.A1567G:p.I523V,NALCN:NM_001350749:exon13:c.A1567G:p.I523V,NALCN:NM_052867:exon13:c.A1567G:p.I523V	Congenital contractures of the limbs and face, hypotonia, and developmental delay, Autosomal dominant;Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, Autosomal recessive	436	1083	3	0	0	3	0.00138313	.	.	.	688095	not_provided|NALCN-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.706	0.203082842531	0.0008	0.000998403	0.0009	9.636e-05	0.0002	0	0.0003	0.0008	0	0.0026	0.0008085	125	154602	rs150580612	0.0010	0.0010	0.0009	0.0010	0.0027	0.0009	0.0009	0.0024	0.0023	0.0003	0.0002	0.0018	0	7.503e-05	0.0010	0.0010	0.0005	0.0027	0.0007	0.0007	0.0007	0.0007	0.0039	0.0006	0.0005	0.0026	0.0021	0.0002	0	0.0007	0.0023	0	9.411e-05	0	0.0008	0.0014	0.0039	0.127	0.27080	T	0.059	0.45961	T	0.844	0.46645	P	0.487	0.47260	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-5.15	0.98780	D	-0.76	0.21215	N	0.298	0.33687	1.081	0.98897	D	0.948	0.98304	D	10	0.029141307	0.01042	T	0.203083	0.86856	D	0.706	0.89468	.	.	0.656282026865	0.65341	0.8310535477586223	0.83064	1.44831164804	0.86095	0.772632420063	0.77819	T	0.570596	0.85775	D	-0.0437868	0.45385	T	0.158779	0.80731	D	0.0782595872879028	0.09763	T	0.859414	0.55137	D	0.4287164	0.62668	0.18756512	0.41996	0.4287164	0.62668	0.18756512	0.41996	-6.254	0.48357	T	0.1940211725228592	0.25550	0.085	0.10014	B	.	.	2.763301	0.36248	20.2	0.99908907371128663	0.97875	0.94094	0.60094	D	AEFCI	0.825769	0.74539	D	0.460024203052514	0.64773	4.739669	0.482445924414965	0.66829	5.003072	0.999999993106766	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.11	5.11	0.69188	5.773000	0.68552	2.847000	0.35116	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.0:0.0:0.0:1.0	15.204	0.72849	860	0.33753	Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.07143	959.63	31	chr13	101229452	.	T	C	959.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.474;DP=254;ExcessHet=0;FS=3.028;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-0.123;SOR=0.422	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,988	6	0	1	0
chr13	102732356	102732356	C	T	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G18341A:p.R6114H	.	.	.	.	.	.	.	.	.	.	.	2355293	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.0165698795048	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs530835241	5.432e-05	5.267e-05	4.513e-05	6.376e-05	0.0002	4.449e-05	4.062e-05	5.829e-05	4.355e-05	9.501e-05	8.403e-05	0	0	0	0.0002	4.728e-05	0.0002	0.0001	4.6e-05	4.594e-05	3.857e-05	5.376e-05	0.0002	2.109e-05	1.527e-05	2.848e-05	1.859e-05	2.407e-05	0	0	0	0	0	0	7.355e-05	0	0.0002	.	.	.	0.14	0.33554	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.14	0.13911	-0.8997	0.48024	T	0.005	0.01797	T	9	0.03232053	0.01381	T	0.01657	0.37889	T	0.016	0.02506	.	.	0.0138822411134	0.00435	0.01608889235796548	0.01564	.	.	0.204745978117	0.00608	T	.	.	.	-0.565139	0.00236	T	-0.812891	0.01601	T	0.00702313613146544	0.00080	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06341	B	.	.	-0.760871	0.01187	0.058	0.79451589481355434	0.12748	0.00276	0.01495	N	AEFGBI	0.015563	0.00303	N	-1.68626950514119	0.00892	0.03858928	-1.7599186344007	0.00896	0.04008112	0.99978594866446	0.43007	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.31	-5.62	0.02284	-2.696000	0.00898	-10.493000	0.00695	-0.919000	0.02208	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.0:0.6685:0.0:0.3315	10.878	0.46131	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002994	0.000000	0.011111	0.000000	0.000000	0.000000	0.000000	0.015152	0.07143	1597.63	61	chr13	102732356	.	C	T	1597.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.08;DP=384;ExcessHet=0;FS=1.497;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-0.228;SOR=0.556	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1067	6	0	1	0
chr13	102734331	102734331	T	C	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.A16366G:p.T5456A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0148895854277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.092	0.07125	-0.9161	0.46076	T	0.006	0.01981	T	9	0.051733285	0.05099	T	0.01489	0.35296	T	0.028	0.06331	.	.	0.0138822411134	0.00435	0.024895675462768038	0.02440	.	.	0.245660990477	0.03324	T	.	.	.	-0.315233	0.07294	T	-0.690587	0.06355	T	0.143874693153753	0.16604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.17146	B	.	.	0.301452	0.06771	3.288	0.77975967936438151	0.12102	0.01964	0.05955	N	AEFGBI	0.026567	0.02019	N	-0.920023641302985	0.10374	0.4954366	-1.00124500250094	0.09758	0.487349	0.98340334688773	0.30553	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.63	1.14	0.19817	0.207000	0.17194	0.029000	0.13704	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.1239:0.2384:0.6377	3.724	0.07995	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1765.46	142	chr13	102734331	.	T	C	1765.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.009;DP=603;ExcessHet=0;FS=3.976;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-2.638;SOR=0.471	GT:AD:DP:GQ:PL	0/0:166,0:166:99:0,120,1800	6	0	1	0
chr13	102734431	102734431	C	T	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G16266A:p.M5422I	.	428	1076	17	1	0	19	0.00875173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00599331572756	.	0.000599042	0.0018	0	0	0	0	0.0001	0	0.0043	0.0002458	38	154602	rs557009429	0.0003	0.0003	0.0002	0.0005	0.0043	0.0003	0.0003	0.0039	0.0038	0.0001	0.0001	0	2.799e-05	4.059e-05	0.0026	8.25e-05	0.0002	0.0043	0.0002	0.0002	0.0001	0.0003	0.0027	0.0001	0.0001	0.0016	0.0013	2.406e-05	0	6.545e-05	0	0	9.411e-05	0	0.0001	0.0009	0.0027	.	.	.	0.032	0.53426	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.337	0.37820	-0.9384	0.42869	T	0.006	0.02018	T	9	0.005258113	0.00115	T	0.005993	0.15638	T	0.025	0.05312	.	.	0.0297737177859	0.01360	0.02646443039572472	0.02596	.	.	0.256388962269	0.04470	T	.	.	.	-0.548027	0.00300	T	-0.559575	0.16416	T	0.00864082868380759	0.00106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339	0.55822	B	.	.	-0.907791	0.00913	0.034	0.9041419461194945	0.19674	0.00641	0.02803	N	AEFGBI	0.024370	0.01498	N	-1.07566995000437	0.07093	0.3285252	-1.16687016483282	0.06470	0.3115535	0.996497588005563	0.34784	0.549168	0.22868	0	0.610034	0.51514	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	3.02	-3.19	0.04853	-1.587000	0.02211	-3.446000	0.02781	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.055000	0.15596	0.3263:0.2638:0.0:0.4099	2.966	0.05546	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002770	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.042857	0.07143	2188.44	86	chr13	102734431	.	C	T	2188.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.635;DP=631;ExcessHet=0;FS=3.64;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=-0.148;SOR=0.817	GT:AD:DP:GQ:PL	0/1:149,96:245:99:2199,0,3844	6	0	1	0
chr13	102737670	102737670	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G13027C:p.V4343L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.296e-05	0.0009	1.28e-05	1.313e-05	3.19e-05	8.1e-06	6.68e-06	9.68e-06	7.91e-06	3.19e-05	0	0	0	0	0	1.589e-05	0	0	6.741e-06	1.989e-05	0	1.384e-05	1.492e-05	0	0	.	.	0	0	0	0	0	0	0	1.492e-05	0	0	.	.	.	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.16028	.	.	.	.	.	.	.	0.08621222	0.14631	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.08298472189106709	0.08233	.	.	0.344727694988	0.17142	T	.	.	.	-0.118802	0.33320	T	-0.408427	0.32407	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.43882	B	.	.	-0.018962	0.04151	0.996	0.36670154075650313	0.02372	0.03259	0.08291	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929394545130418	0.26967	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0516762	0.10602	2.37	-0.837	0.10221	0.258000	0.18156	-2.744000	0.03406	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4159:0.0:0.5841	5.246	0.14815	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	71.58	97	chr13	102737670	.	C	G	71.58	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-4.049;DP=780;ExcessHet=0.3476;FS=432.914;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=0.882;SOR=8.909	GT:AD:DP:GQ:PL	0/1:141,47:198:63:63,0,3004	3	0	2	2
chr13	102738219	102738219	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G12478C:p.V4160L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.167e-05	0.0022	6.326e-05	3.979e-05	6.248e-05	4.177e-05	3.835e-05	5.038e-05	4.595e-05	0	2.807e-05	0	0	0	0	6.248e-05	3.499e-05	2.541e-05	1.334e-05	2.64e-05	1.303e-05	1.368e-05	1.486e-05	2.22e-06	8.3e-07	.	.	0	0	0	0	0	9.686e-05	0	1.486e-05	0	0	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.19459	.	.	.	.	.	.	.	0.09865704	0.17852	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.022759760475440007	0.02227	.	.	0.381038725376	0.22403	T	.	.	.	-0.129836	0.31521	T	-0.424277	0.30586	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.56507	A	.	.	0.179806	0.05674	2.123	0.42346026630768363	0.03115	0.07449	0.13466	N	AEFBI	.	.	.	.	.	.	.	.	.	0.921212253802681	0.26663	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0512898	0.10407	3.08	0.322	0.15131	1.882000	0.39283	-0.398000	0.09429	0.454000	0.21428	0.029000	0.20367	0.000000	0.08366	0.017000	0.10941	0.0:0.5804:0.0:0.4196	5.169	0.14429	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	367.67	107	chr13	102738219	.	C	G	367.67	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-4.291;DP=876;ExcessHet=1.1394;FS=197.265;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=2.24;SOR=9.811	GT:AD:DP:GQ:PL	0/1:162,42:209:74:74,0,3506	4	0	3	0
chr13	102745579	102745579	T	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.A5118C:p.K1706N	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0.0002	0	0.0004	3.88e-05	6	154602	rs779187550	0.0001	0.0001	0.0001	0.0001	0.0012	0.0001	0.0001	0.0006	0.0004	3.169e-05	0.0002	0	0	0	0.0012	0.0001	0.0002	0.0003	4.603e-05	4.597e-05	5.143e-05	4.038e-05	0.0001	2.111e-05	1.528e-05	2.848e-05	1.859e-05	0	0	0.0001	0	0	0	0	7.356e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.13769	.	.	.	.	.	.	.	0.065915525	0.08963	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.09162162551473028	0.09095	.	.	0.461871683598	0.33567	T	.	.	.	-0.346931	0.04923	T	-0.432989	0.29597	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.542	0.66437	A	.	.	1.710861	0.21783	15.35	0.74016759180102554	0.10539	0.02165	0.06354	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.939792936601623	0.27403	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0775947	0.17851	3.46	0.912	0.18476	0.397000	0.20608	0.217000	0.16029	0.665000	0.62972	0.001000	0.13787	0.001000	0.17328	0.052000	0.15357	0.0:0.1287:0.3119:0.5594	3.720	0.07980	943	0.12886	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1496.44	40	chr13	102745579	.	T	G	1496.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2;DP=617;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=1.6;SOR=0.619	GT:AD:DP:GQ:PL	0/0:163,0:163:99:0,120,1800	6	0	1	0
chr13	102747739	102747739	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G2958C:p.K986N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.50809	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.071324736	0.10499	T	.	.	.	.	.	.	.	0.0716867268079	0.06686	0.029755569922110755	0.02924	.	.	0.339609414339	0.16379	T	.	.	.	-0.183105	0.23276	T	-0.500794	0.22266	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.484	0.63867	A	.	.	2.482158	0.32012	18.91	0.76786657609047815	0.11609	0.06593	0.12608	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.974835266602416	0.29578	0.07523	0.01759	0	0.085267	0.02369	0	0.063197	0.01477	0	0.091162	0.02695	0	0.166294	0.28576	4.21	2.49	0.29274	0.370000	0.20166	-0.592000	0.08316	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.974000	0.55675	0.0:0.7826:0.0:0.2174	6.417	0.20924	939	0.14249	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	46.76	154	chr13	102747739	.	C	G	46.76	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-3.158;DP=971;ExcessHet=0;FS=305.299;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.38;ReadPosRankSum=0.66;SOR=10.138	GT:AD:DP:GQ:PL	0/0:179,49:274:32:0,32,4103	3	0	1	3
chr13	102758903	102758903	T	-	exonic	CCDC168	.	stopgain	CCDC168:NM_001146197:exon1:c.30delA:p.V12*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.75e-06	6.225e-05	2.838e-06	8.739e-06	7.454e-06	2.47e-06	1.79e-06	3.21e-06	2.32e-06	0	0	0	0	0	0	7.454e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	33.23	7	chr13	102758902	.	CT	C	33.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.068;DP=91;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.75;ReadPosRankSum=1.98;SOR=0.148	GT:AD:DP:GQ:PL	0/0:27,0:27:75:0,75,1125	5	0	1	1
chr13	102868194	102868194	T	A	exonic	BIVM-ERCC5;ERCC5	.	nonsynonymous SNV	ERCC5:NM_000123:exon12:c.T2615A:p.V872E,BIVM-ERCC5:NM_001204425:exon20:c.T3977A:p.V1326E	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.736	0.316250005973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.995	0.67487	D	0.906	0.64351	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.61	0.93830	H	0.02	0.62318	T	-5.14	0.89211	D	0.839	0.83473	0.241	0.86596	D	0.511	0.81647	D	10	0.8599408	0.85208	D	0.31625	0.91337	D	0.736	0.90808	0.476	0.55342	0.922330987824	0.92154	0.6384009344693482	0.63774	0.657340301731	0.58692	.	.	.	0.539495	0.84207	D	0.507169	0.94487	D	0.490736	0.94408	D	0.997006092637574	0.90554	D	0.908809	0.89831	D	0.9497967	0.96245	0.86715305	0.92670	0.9497967	0.96245	0.86715305	0.92670	-17.145	0.99029	D	.	.	0.976	0.90627	P	.;.;.;.;.	.;.;.;.;.	4.598787	0.72809	25.9	0.99139512161291166	0.53491	0.98738	0.86220	D	AEFBI	0.900283	0.84562	D	0.839204774371765	0.88485	9.596168	0.763306504879115	0.87148	9.123182	0.999999999997746	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	7.924000	0.86974	7.791000	0.68894	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	14.743	0.69089	921	0.19240	Helix-hairpin-helix motif, class 2;Helix-hairpin-helix motif, class 2;.;Helix-hairpin-helix motif, class 2;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	425.27	33	chr13	102868194	.	T	A	425.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.89;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-0.541;SOR=0.904	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1156	5	0	1	1
chr13	103052637	103052637	C	T	exonic	SLC10A2	.	nonsynonymous SNV	SLC10A2:NM_000452:exon3:c.G568A:p.A190T	Bile acid malabsorption, primary, Autosomal recessive	5	1514	2	1	0	4	0.00131926	.	.	.	1885080	SLC10A2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.244	0.0123361524902	.	.	7.422e-05	0	0	0	0	0.0001	0	6.061e-05	6.47e-05	10	154602	rs200735895	4.871e-05	4.926e-05	4.234e-05	5.513e-05	0.0009	3.937e-05	3.615e-05	0.0003	0.0002	0	0	0	0	0	0.0009	5.053e-05	6.641e-05	6.964e-05	3.288e-05	3.284e-05	0	6.732e-05	7.351e-05	1.262e-05	7.98e-06	2.847e-05	1.858e-05	0	0	0	0	0	0	0	7.351e-05	0	0	0.003	0.68238	D	0.105	0.38016	T	0.887	0.48784	P	0.854	0.60866	P	0.000003	0.62929	D	0.104290	0.999986	0.54805	D	1.97	0.53315	M	2.76	0.11515	T	-2.78	0.58896	D	0.862	0.85872	-1.2148	0.00069	T	0.072	0.29163	T	10	0.86253	0.85480	D	0.012336	0.30825	T	0.244	0.55061	0.71	0.84601	0.480198768302	0.47651	0.9873658470578447	0.98730	0.0171929848995	0.01662	0.567631661892	0.48343	T	0.181954	0.53380	T	-0.0793211	0.39826	T	-0.126014	0.61305	T	0.499628156423569	0.32615	T	0.89971	0.64861	D	0.49504438	0.66803	0.5312115	0.72913	0.49504438	0.66803	0.5312115	0.72913	-6.744	0.52141	T	0.4058871147362989	0.49698	0.611	0.69345	P	.	.	4.963777	0.82096	27.7	0.99898940197573249	0.97124	0.97671	0.76304	D	AEFI	0.713630	0.66637	D	0.664725608589518	0.77325	6.653075	0.686933989963111	0.81384	7.514516	0.999989299004495	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.62	5.62	0.85714	6.283000	0.72672	7.617000	0.62147	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.668	0.95895	925	0.17918	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1235.63	33	chr13	103052637	.	C	T	1235.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.59;DP=293;ExcessHet=0;FS=2.341;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=0.189;SOR=0.492	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1086	6	0	1	0
chr13	109784855	109784856	CT	-	exonic	IRS2	.	frameshift deletion	IRS2:NM_003749:exon1:c.1198_1199del:p.S400Pfs*138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	47.34	11	chr13	109784854	.	GCT	G	47.34	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.23;DP=61;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.3;ReadPosRankSum=0;SOR=0.527	GT:AD:DP:GQ:PL	0/0:12,0:12:36:0,36,364	5	0	1	1
chr13	110170586	110170586	T	C	exonic	COL4A1	.	nonsynonymous SNV	COL4A1:NM_001845:exon42:c.A3703G:p.K1235E	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Autosomal dominant;Brain small vessel disease with or without ocular anomalies, Autosomal dominant;Porencephaly 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.763	0.421845245963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.41364	D	0.116	0.36497	T	0.998	0.73220	D	0.984	0.76113	D	0.000041	0.53742	D	0.157369	1	0.81001	D	2.425	0.70256	M	-3.19	0.93170	D	-2.19	0.49352	N	0.734	0.73465	0.680	0.92921	D	0.825	0.94103	D	10	0.7851852	0.78186	D	0.421845	0.93809	D	0.763	0.91962	0.516	0.61611	0.765211053713	0.76306	0.9428905423372139	0.94271	1.42373316533	0.85663	0.659265398979	0.61304	T	0.462566	0.79887	T	0.200139	0.73904	D	0.0497092	0.73564	D	0.965986907482147	0.67439	D	0.865913	0.56597	D	0.251473	0.48156	0.32278746	0.58216	0.251473	0.48156	0.32278746	0.58215	-8.63	0.65287	D	0.5766782332351194	0.64362	0.691	0.72593	P	.	.	4.856224	0.79421	27.1	0.99892864441566576	0.96666	0.98309	0.81491	D	AEFDBCI	0.930838	0.91874	D	0.588310433067615	0.72446	5.806817	0.591399914181598	0.74319	6.117269	0.999999998021296	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.07	5.07	0.68106	7.384000	0.79020	7.787000	0.68803	0.664000	0.56970	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:0.0:1.0	14.878	0.70147	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	25	chr13	110170586	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=161;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1107	6	1	0	0
chr13	110456941	110456941	-	GTG	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.783_784insCAC:p.Q261_G262insH	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	9.39e-05	0.0001	0.0001	0.0002	0.0001	0.0001	9.816e-05	8.405e-05	0.0002	0.0001	0.0004	0.0001	0.0001	0	0.0001	0.0001	0.0001	0.0009	0.0012	0.0010	0.0008	0.0011	0.0007	0.0007	0.0009	0.0008	0.0008	0	0.0006	0.0012	0.0005	0.0006	0	0.0011	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	404.23	36	chr13	110456941	.	C	CGTG	404.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.142;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=48.51;MQRankSum=2.63;QD=10.11;ReadPosRankSum=0.776;SOR=0.818	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,102,1351	5	0	1	1
chr13	110456942	110456942	-	GTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCG	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.782_783insCGGCATCAGCCCCACGGACGCCTGGGGTCCCACGCAGAC:p.Q261delinsHGISPTDAWGPTQT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0002	0.0003	0.0003	0.0008	0.0002	0.0002	0.0002	0.0001	0.0008	0.0001	0.0009	0.0002	0.0002	0	0.0002	0.0001	0.0003	0.0006	0.0008	0.0005	0.0007	0.0011	0.0004	0.0004	0.0005	0.0004	0.0009	0	0.0011	0.0008	0.0005	0.0003	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	556.72	36	chr13	110456942	.	C	CGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCG	556.72	.	AC=1;AF=0.167;AN=6;BaseQRankSum=0.756;DP=236;ExcessHet=0.9691;FS=0.894;MLEAC=1;MLEAF=0.167;MQ=51.31;MQRankSum=2.63;QD=7.23;ReadPosRankSum=-0.829;SOR=0.872	GT:AD:DP:GQ:PL	./.:45,0:45:0:0,0,60	2	0	1	4
chr13	110457152	110457235	TGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCC	-	exonic	COL4A2-AS2	.	nonframeshift deletion	COL4A2-AS2:NM_001267044:exon5:c.490_573del:p.G164_A191del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0	0.0048	0	0	0	0	.	.	.	.	7.01e-05	0.0003	9.884e-05	4.76e-05	0.0001	4.599e-05	3.917e-05	3.933e-05	3.099e-05	0	0.0001	0.0002	0.0001	6.232e-05	0	7.156e-05	7.037e-05	1.831e-05	6.704e-05	0.0003	6.532e-05	6.885e-05	0.0003	2.264e-05	1.353e-05	.	.	8.502e-05	0	0	0.0008	0.0003	0	0	3.459e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	59.13	25	chr13	110457151	.	GTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCC	G	59.13	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.107;DP=165;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=52.57;MQRankSum=-0.496;QD=1.52;ReadPosRankSum=-0.099;SOR=0.641	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1069	6	0	1	0
chr13	110457229	110457232	GATG	-	exonic	COL4A2-AS2	.	frameshift deletion	COL4A2-AS2:NM_001267044:exon5:c.493_496del:p.H165Sfs*84	.	204	1315	2	1	0	4	0.0015186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061	0.0062	0.0230	0	0	0.0166	0.0435	0.0006	0.0002305	6	26028	rs768746402	0.0023	0.0059	0.0024	0.0022	0.0084	0.0022	0.0021	0.0069	0.0063	0.0084	0.0014	0.0032	0.0048	0.0009	0.0010	0.0020	0.0019	0.0020	0.0005	0.0034	0.0006	0.0005	0.0014	0.0004	0.0004	0.0008	0.0006	0.0011	0	0.0005	0	0.0014	0.0001	0	0.0002	0.0008	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	40.8	38	chr13	110457228	.	TGATG	T	40.8	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.663;DP=211;ExcessHet=0.3476;FS=1.599;MLEAC=1;MLEAF=0.071;MQ=52.94;MQRankSum=1.02;QD=0.73;ReadPosRankSum=2.39;SOR=1.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,109,1292:.	6	0	1	0
chr13	110457228	110457232	TGATG	0	exonic	COL4A2-AS2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	40.8	38	chr13	110457228	.	TGATG	*	40.8	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.663;DP=211;ExcessHet=0.3476;FS=1.599;MLEAC=1;MLEAF=0.071;MQ=52.94;MQRankSum=1.02;QD=0.73;ReadPosRankSum=2.39;SOR=1.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,109,1292:.	6	0	1	0
chr13	110457229	110457229	G	0	exonic	COL4A2-AS2	.	.	.	.	743	724	34	19	2	74	0.0473684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	806.46	38	chr13	110457229	.	G	*	806.46	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0;DP=217;ExcessHet=0.095;FS=1.959;MLEAC=2;MLEAF=0.167;MQ=54.42;MQRankSum=0.842;QD=8.96;ReadPosRankSum=1.28;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:24,0:44:99:0|1:110457229_G_C:703,774,1693:110457229	4	0	2	1
chr13	110457233	110457271	CCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTG	0	exonic	COL4A2-AS2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	46.8	38	chr13	110457233	.	CCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTG	*	46.8	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.529;DP=261;ExcessHet=0.3476;FS=1.599;MLEAC=1;MLEAF=0.071;MQ=57.89;MQRankSum=1.02;QD=0.84;ReadPosRankSum=2.52;SOR=1.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,120,1800:.	6	0	1	0
chr13	110457234	110457271	CCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTG	-	exonic	COL4A2-AS2	.	frameshift deletion	COL4A2-AS2:NM_001267044:exon5:c.454_491del:p.Q152Afs*209	.	143	1376	2	1	0	4	0.00145138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0090	0.0048	0.0192	0	0	0.0244	0.0385	0.0006	3.84e-05	1	26028	rs761923541	0.0018	0.0048	0.0019	0.0018	0.0061	0.0017	0.0017	0.0049	0.0044	0.0061	0.0009	0.0028	0.0039	0.0008	0.0004	0.0016	0.0015	0.0014	0.0005	0.0027	0.0004	0.0006	0.0012	0.0004	0.0003	0.0008	0.0007	0.0011	0	0.0005	0.0004	0.0012	0.0001	0	0.0001	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	46.8	38	chr13	110457233	.	CCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTG	C	46.8	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.529;DP=261;ExcessHet=0.3476;FS=1.599;MLEAC=1;MLEAF=0.071;MQ=57.89;MQRankSum=1.02;QD=0.84;ReadPosRankSum=2.52;SOR=1.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,120,1800:.	6	0	1	0
chr13	110457271	110457271	G	0	exonic	COL4A2-AS2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2025.67	37	chr13	110457271	.	G	*	2025.67	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.65;DP=343;ExcessHet=0;FS=3.076;MLEAC=1;MLEAF=0.1;MQ=57.25;MQRankSum=-1.345;QD=24.12;ReadPosRankSum=2.37;SOR=1.158	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:47,0:75:99:0|1:110457229_G_C:874,1013,2625:110457229	4	0	1	2
chr13	110683120	110683120	C	T	exonic	CARS2	.	nonsynonymous SNV	CARS2:NM_001352253:exon6:c.G586A:p.D196N,CARS2:NM_024537:exon6:c.G586A:p.D196N	Combined oxidative phosphorylation deficiency 27, Autosomal recessive	425	1071	24	2	0	28	0.0129032	.	.	.	372648	Combined_oxidative_phosphorylation_defect_type_27|not_provided|not_specified	MONDO:MONDO:0014728,MedGen:C5567608,OMIM:616672,Orphanet:477774|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.183	.	0.0008	0.00559105	0.0037	9.645e-05	0.0004	0.0001	0	0.0018	0.0022	0.0202	0.0032406	501	154602	rs140082252	0.0018	0.0019	0.0012	0.0024	0.0191	0.0017	0.0017	0.0184	0.0180	6.205e-05	0.0002	0.0191	2.608e-05	0	0.0067	0.0003	0.0027	0.0191	0.0014	0.0014	0.0010	0.0017	0.0166	0.0012	0.0012	0.0136	0.0126	7.226e-05	0	0.0005	0.0228	0	0	0.0034	0.0005	0.0019	0.0166	0.118	0.28148	T	0.113	0.36901	T	0.973	0.57599	D	0.801	0.58220	P	0.000000	0.84330	D	0.000000	0.999593	0.47742	D	1.46	0.36832	L	1.19	0.37578	T	-3.56	0.68880	D	0.375	0.41656	-0.8956	0.48427	T	0.166	0.50389	T	10	0.01248005	0.00268	T	.	.	.	0.183	0.45592	.	.	0.595618126301	0.59240	0.8516638287777879	0.85128	0.36004956123	0.37690	0.491516232491	0.37649	T	0.577534	0.86113	D	-0.486362	0.00680	T	-0.456465	0.26985	T	0.0485474203814761	0.05241	T	0.931207	0.74412	D	0.35733855	0.57633	0.32977292	0.58853	0.35223567	0.57240	0.32805425	0.58697	-7.284	0.56081	T	0.2633904641875997	0.35534	0.159	0.35077	B	.	.	4.530673	0.71121	25.6	0.99873699423563034	0.95076	0.85523	0.44664	D	AEFDBCI	0.317831	0.42171	N	0.459975856206608	0.64773	4.739321	0.433699733967894	0.63678	4.606	0.999999989407597	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	2.671000	0.46507	4.722000	0.44510	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.850000	0.40195	0.0:1.0:0.0:0.0	16.529	0.84200	988	0.01987	tRNA synthetases class I, catalytic domain|tRNA synthetases class I, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.022727	0.07143	2010.44	33	chr13	110683120	.	C	T	2010.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.219;DP=391;ExcessHet=0;FS=4.276;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=0.639;SOR=0.46	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,102,1530	6	0	1	0
chr13	112068120	112068125	CATGGG	-	exonic	SOX1	.	nonframeshift deletion	SOX1:NM_005986:exon1:c.462_467del:p.M155_G156del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1199447510	7.075e-05	6.366e-05	6.267e-05	7.918e-05	0.0002	5.839e-05	5.375e-05	8.699e-05	6.512e-05	0.0002	0	0	0	0	0	6.922e-05	8.618e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0002	0.0002	0	0.0005	0	0	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	558.23	21	chr13	112068119	.	CCATGGG	C	558.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.718;DP=164;ExcessHet=0;FS=6.2;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.01;ReadPosRankSum=-0.754;SOR=0.145	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1216	5	0	1	1
chr13	112068121	112068127	ATGGGCG	0	exonic	SOX1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	617.48	13	chr13	112068121	.	ATGGGCG	*	617.48	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.28;DP=168;ExcessHet=0.1336;FS=1.202;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=0.864;SOR=0.495	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1216	5	0	1	1
chr13	113075997	113075997	T	C	exonic	MCF2L	.	nonsynonymous SNV	MCF2L:NM_001366645:exon10:c.T1226C:p.L409P,MCF2L:NM_001366646:exon10:c.T1226C:p.L409P,MCF2L:NM_001112732:exon12:c.T1340C:p.L447P,MCF2L:NM_001320815:exon12:c.T1334C:p.L445P,MCF2L:NM_001320816:exon12:c.T1352C:p.L451P,MCF2L:NM_001320817:exon12:c.T1334C:p.L445P,MCF2L:NM_001366644:exon12:c.T1253C:p.L418P,MCF2L:NM_024979:exon12:c.T1334C:p.L445P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.484	0.252196459122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.88582	D	0.000002	0.62929	D	0.000000	1	0.81001	D	3.035	0.86516	M	1.93	0.65563	T	-6.35	0.91741	D	0.967	0.97856	-0.6840	0.61187	T	0.195	0.54927	T	10	0.8727033	0.86545	D	0.252196	0.89162	D	0.484	0.77335	.	.	0.965215785449	0.96484	0.9053007686192718	0.90503	1.44611194142	0.86059	0.814548611641	0.84190	D	0.406982	0.76273	T	0.373817	0.88309	D	0.299186	0.88160	D	0.996718227863312	0.89926	D	0.979102	0.92705	D	0.96330464	0.97610	0.91510737	0.96052	0.96330464	0.97611	0.91510737	0.96053	-13.645	0.92958	D	.	.	0.990	0.94772	P	.;.;.;.;.;.	.;.;.;.;.;.	5.359168	0.89874	31	0.99861860949694703	0.94002	0.97150	0.72983	D	AEFGBI	0.958522	0.97836	D	0.484938049483965	0.66209	4.920787	0.371285709758729	0.59799	4.161094	0.999184208293275	0.38681	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	5.3	4.12	0.47504	7.470000	0.79974	7.541000	0.60087	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0735:0.0:0.9265	10.963	0.46608	994	0.00715	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	37	chr13	113075997	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1099	6	1	0	0
chr13	113081271	113081271	G	A	exonic	MCF2L	.	nonsynonymous SNV	MCF2L:NM_001366645:exon14:c.G1753A:p.V585I,MCF2L:NM_001366646:exon14:c.G1753A:p.V585I,MCF2L:NM_001112732:exon16:c.G1867A:p.V623I,MCF2L:NM_001320815:exon16:c.G1861A:p.V621I,MCF2L:NM_001320816:exon16:c.G1879A:p.V627I,MCF2L:NM_001320817:exon16:c.G1861A:p.V621I,MCF2L:NM_001366644:exon16:c.G1780A:p.V594I,MCF2L:NM_024979:exon16:c.G1861A:p.V621I	.	419	1097	6	0	0	6	0.00272727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.0192942946038	0.0015	0.000399361	0.0031	0	0.0013	0.0003	0.0014	0.0051	0	0.0020	0.0014748	228	154602	rs146542168	0.0028	0.0028	0.0028	0.0028	0.0034	0.0027	0.0027	0.0033	0.0032	0.0005	0.0013	7.855e-05	0.0001	0.0001	0.0023	0.0034	0.0018	0.0013	0.0019	0.0019	0.0022	0.0015	0.0030	0.0017	0.0016	0.0027	0.0026	0.0008	0.0011	0.0022	0	0.0002	0	0.0068	0.0030	0.0019	0.0019	0.44	0.09264	T	0.606	0.08134	T	0.709	0.77913	P	0.324	0.63340	B	0.000000	0.84330	D	0.000000	0.977334	0.39357	D	0.1	0.08449	N	0.19	0.60236	T	-0.53	0.16393	N	0.197	0.22486	-0.9360	0.43241	T	0.153	0.48188	T	10	0.009700358	0.00218	T	0.019294	0.41613	T	0.101	0.28911	.	.	0.766799274583	0.76466	0.24310633720146085	0.24224	0.290956997048	0.31498	0.49343007803	0.37915	T	0.046758	0.27521	T	-0.419958	0.01711	T	-0.375064	0.36297	T	0.0179173221769999	0.00518	T	0.924508	0.72366	D	0.06046662	0.12410	0.055271298	0.09665	0.06046662	0.12410	0.055271298	0.09664	-4.689	0.34145	T	.	.	0.086	0.17060	B	.;.;.;.;.;.	.;.;.;.;.;.	3.758385	0.53913	23.4	0.99232599313429859	0.56278	0.73348	0.35880	D	AEFDBCI	0.213983	0.33950	N	-0.121835818506463	0.36442	2.106546	-0.0170206137143025	0.38946	2.301901	0.999038905488274	0.38264	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.3	3.45	0.38602	1.074000	0.30315	8.068000	0.76428	0.676000	0.76740	0.750000	0.29133	1.000000	0.68203	0.993000	0.69303	0.2052:0.0:0.7948:0.0	7.328	0.25739	994	0.00715	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001021	0.000000	0.000000	0.002941	0.050000	0.000000	0.003125	0.000000	0.07143	686.63	63	chr13	113081271	.	G	A	686.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.225;DP=243;ExcessHet=0;FS=0.962;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-1.437;SOR=0.523	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	6	0	1	0
chr13	113405197	113405197	G	A	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.C2993T:p.T998M,LOC101928841:NM_001375393:exon2:c.C2993T:p.T998M	.	962	558	1	1	0	3	0.00268097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	0.0006147	16	26028	rs546356323	0.0005	0.0004	0.0005	0.0005	0.0058	0.0004	0.0004	0.0037	0.0030	0.0011	0.0001	0.0053	0	0	0.0058	0.0004	0.0008	0.0006	0.0007	0.0007	0.0006	0.0007	0.0008	0.0006	0.0005	0.0006	0.0005	0.0008	0	0.0005	0.0043	0	0	0.0068	0.0005	0.0014	0.0008	.	.	.	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.06854	.	.	.	.	.	.	.	0.011453122	0.00250	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022961	0.17609	T	.	.	.	.	.	.	.	.	.	0.525248	0.17252	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.33203	B	.	.	1.015921	0.13953	10.51	0.58192260420815167	0.05937	0.07460	0.13477	N	AEFBHCI	.	.	.	.	.	.	.	.	.	0.999978826038407	0.50053	0.056701	0.00814	0	0.059962	0.00310	0	0.074216	0.02223	0	0.079188	0.02158	0	0.0518733	0.10782	2.6	-2.7	0.05651	-2.122000	0.01408	0.561000	0.19511	-0.274000	0.06627	0.000000	0.06391	0.003000	0.18671	0.001000	0.02609	0.0:0.1976:0.3743:0.4281	4.215	0.09984	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	963.63	39	chr13	113405197	.	G	A	963.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.595;DP=279;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-1.394;SOR=0.743	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1015	6	0	1	0
chr13	113405323	113405323	G	A	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.C2867T:p.A956V,LOC101928841:NM_001375393:exon2:c.C2867T:p.A956V	.	935	572	13	2	0	17	0.0146425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00858626	.	.	.	.	.	.	.	.	0.009144	238	26028	rs117605449	0.0115	0.0088	0.0114	0.0116	0.0159	0.0113	0.0112	0.0144	0.0139	0.0010	0.0077	0.0105	0.0001	0.0048	0.0082	0.0122	0.0105	0.0159	0.0074	0.0074	0.0075	0.0072	0.0178	0.0070	0.0069	0.0148	0.0137	0.0020	0	0.0061	0.0081	0	0.0057	0.0034	0.0110	0.0099	0.0178	.	.	.	0.163	0.31125	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0036976635	0.00068	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017884	0.14511	T	.	.	.	.	.	.	.	.	.	0.458954	0.13262	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31783	B	.	.	0.495224	0.08645	5.414	0.52185299493510062	0.04700	0.15857	0.19114	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999994668976826	0.74766	0.080785	0.02172	0	0.096583	0.02683	0	0.074216	0.02223	0	0.079188	0.02158	0	0.0720215	0.16903	3.49	1.45	0.21708	-0.018000	0.12508	-1.256000	0.05892	-0.330000	0.05784	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1035:0.1533:0.7432:0.0	8.835	0.34265	976	0.04745	.	ADPRHL1|ADPRHL1	Muscle_Skeletal|Nerve_Tibial	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	821.49	28	chr13	113405323	.	G	A	821.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.152;DP=233;ExcessHet=0;FS=0.994;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-1.028;SOR=0.487	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1015	6	0	1	0
chr13	113405984	113405984	A	C	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.T2206G:p.L736V,LOC101928841:NM_001375393:exon2:c.T2206G:p.L736V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	0.0006147	16	26028	rs539114127	0.0006	0.0005	0.0005	0.0007	0.0089	0.0006	0.0006	0.0063	0.0054	0.0002	0.0002	0.0249	0	0	0.0089	0.0002	0.0020	0	0.0009	0.0009	0.0009	0.0009	0.0005	0.0008	0.0007	0.0002	0.0002	4.809e-05	0	0.0005	0.0280	0	0	0.0068	0.0004	0.0014	0.0004	.	.	.	0.294	0.20745	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.01498	.	.	.	.	.	.	.	0.004081577	0.00080	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009308	0.08481	T	.	.	.	.	.	.	.	.	.	0.414759	0.10842	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.23605	B	.	.	0.171706	0.05604	2.059	0.48808034020543423	0.04104	0.04024	0.09458	N	AEBI	.	.	.	.	.	.	.	.	.	0.99986968291006	0.44398	0.080785	0.02172	0	0.096583	0.02683	0	0.074216	0.02223	0	0.062806	0.01542	0	0.0510583	0.10159	4.37	-3.03	0.05100	-0.632000	0.05587	-0.526000	0.08662	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3628:0.1481:0.3448:0.1442	1.662	0.02625	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	155.55	35	chr13	113405984	.	A	C	155.55	.	AC=2;AF=0.143;AN=14;DP=282;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=31.11;SOR=1.022	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1015	6	1	0	0
chr13	113766124	113766124	C	T	exonic	TMEM255B	.	nonsynonymous SNV	TMEM255B:NM_001348663:exon2:c.C56T:p.S19L,TMEM255B:NM_182614:exon2:c.C56T:p.S19L	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00429569265551	.	.	0.0003	0	0	0	0	3.003e-05	0	0.0019	0.0002135	33	154602	rs754716183	0.0001	0.0001	8.44e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	2.987e-05	0	0	0	0	0.0005	2.068e-05	0.0001	0.0018	8.535e-05	8.531e-05	7.709e-05	9.399e-05	0.0008	4.953e-05	3.96e-05	0.0003	0.0002	2.406e-05	0	0.0002	0	0.0002	0	0.0068	2.94e-05	0	0.0008	0.151	0.24564	T	0.093	0.39799	T	0.625	0.40054	P	0.088	0.29688	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	0.94	0.43672	T	-1.69	0.40274	N	0.231	0.25989	-1.0744	0.08472	T	0.056	0.23527	T	9	0.016188085	0.00340	T	0.004296	0.10404	T	0.014	0.01968	0.269	0.21735	0.112648838833	0.10856	0.2910769508054306	0.29020	0.0645193683208	0.07196	0.655000805855	0.60696	T	0.046655	0.27488	T	-0.583177	0.00184	T	-0.640549	0.09628	T	0.0191623897974047	0.00623	T	0.644736	0.25622	T	0.048963964	0.08619	0.066438876	0.13609	0.048963964	0.08619	0.066438876	0.13609	-6.633	0.51304	T	.	.	0.098	0.16054	B	.;.	.;.	0.990505	0.13686	10.22	0.94220443256158315	0.24468	0.01848	0.05718	N	AEFDBI	0.044425	0.07145	N	-0.884723423925185	0.11205	0.5394989	-0.972976633820077	0.10394	0.5232541	0.999942425292484	0.47345	0.706548	0.73137	0	0.59043	0.45803	0	0.596874	0.31795	0	0.714379	0.83352	0	.	.	4.42	0.465	0.15923	0.907000	0.28154	-0.858000	0.07152	0.469000	0.21855	0.408000	0.26234	0.000000	0.08366	0.005000	0.06747	0.0:0.5534:0.2807:0.1658	6.398	0.20827	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	200.44	46	chr13	113766124	.	C	T	200.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.395;DP=226;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.36;ReadPosRankSum=2.12;SOR=0.542	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1186	6	0	1	0
chr13	113795181	113795181	G	C	exonic	TMEM255B	.	nonsynonymous SNV	TMEM255B:NM_001348663:exon4:c.G286C:p.V96L,TMEM255B:NM_182614:exon4:c.G286C:p.V96L	.	436	1000	81	4	1	90	0.0426041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	.	0.0037	0.00898562	0.0094	0.0010	0.0027	0.0001	0.0009	0.0067	0.0167	0.0377	0.0083569	1292	154602	rs150323609	0.0062	0.0062	0.0050	0.0073	0.0363	0.0060	0.0060	0.0352	0.0348	0.0009	0.0025	0.0069	0.0001	0.0007	0.0278	0.0044	0.0073	0.0363	0.0049	0.0049	0.0043	0.0056	0.0354	0.0046	0.0045	0.0311	0.0294	0.0009	0.0208	0.0030	0.0066	0.0002	0.0018	0.0170	0.0061	0.0066	0.0354	0.006	0.61437	D	0.017	0.65728	D	0.975	0.58077	D	0.584	0.50293	P	.	.	.	.	0.999994	0.58761	D	2.87	0.83286	M	0.43	0.56772	T	-2.34	0.51811	N	0.502	0.53532	-0.5375	0.67258	T	0.182	0.52934	T	9	0.0077860355	0.00177	T	.	.	.	0.324	0.64624	0.553	0.66995	0.385578977469	0.38175	0.7663973015602885	0.76588	0.250000845388	0.27578	0.656492352486	0.60908	T	0.237301	0.60496	T	-0.212264	0.19062	T	-0.0512197	0.66939	D	0.0395209149209923	0.03604	T	0.838216	0.51127	T	0.31684133	0.54372	0.35385677	0.60940	0.31684133	0.54372	0.35385677	0.60939	-9.994	0.73876	D	.	.	0.384	0.61725	A	.;.	.;.	2.309652	0.29567	18.16	0.99604973238387107	0.74456	0.92132	0.55016	D	AEFGBI	0.571454	0.57543	D	0.357397953511674	0.59132	4.090088	0.278757387613594	0.54302	3.595487	0.999999996836986	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.06	4.06	0.46572	5.500000	0.66660	5.156000	0.47774	0.647000	0.52776	1.000000	0.71638	1.000000	0.68203	0.026000	0.12556	0.0:0.0:1.0:0.0	15.030	0.71357	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022681	0.015152	0.014946	0.014620	0.000000	0.025862	0.021472	0.064394	0.07143	1018.46	33	chr13	113795181	.	G	C	1018.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.161;DP=307;ExcessHet=0;FS=1.494;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.7;ReadPosRankSum=0.806;SOR=0.702	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1185	6	0	1	0
chr13	114287456	114287456	T	G	exonic	UPF3A	.	nonsynonymous SNV	UPF3A:NM_001353651:exon5:c.T676G:p.W226G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.361e-06	0	0	.	0	0	.	.	.	0	.	0	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	70.83	1	chr13	114287456	.	T	G	70.83	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0;DP=11;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=17.71;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1,0:1:3:.:.:0,3,39:.	4	0	1	2
chr13	114287457	114287457	G	T	exonic	UPF3A	.	nonsynonymous SNV	UPF3A:NM_001353651:exon5:c.G677T:p.W226L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	70.83	1	chr13	114287457	.	G	T	70.83	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0;DP=11;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=17.71;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1,0:1:3:.:.:0,3,39:.	4	0	1	2
chr13	114301925	114301925	G	A	exonic	UPF3A	.	nonsynonymous SNV	UPF3A:NM_001353644:exon7:c.G599A:p.S200N,UPF3A:NM_001353646:exon7:c.G599A:p.S200N,UPF3A:NM_001353649:exon7:c.G587A:p.S196N,UPF3A:NM_001353647:exon8:c.G599A:p.S200N,UPF3A:NM_001353648:exon8:c.G599A:p.S200N,UPF3A:NM_080687:exon8:c.G1103A:p.S368N,UPF3A:NM_001353645:exon9:c.G599A:p.S200N,UPF3A:NM_001353650:exon9:c.G587A:p.S196N,UPF3A:NM_023011:exon9:c.G1202A:p.S401N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0131570505153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.393	0.10730	T	0.789	0.05707	T	0.002	0.15535	B	0.003	0.12133	B	0.608642	0.10888	N	0.847047	0.995395	0.23301	N	1.01	0.25309	L	-1.42	0.80645	T	-0.42	0.14193	N	0.106	0.12198	-0.9209	0.45431	T	0.248	0.61704	T	9	0.08412802	0.14067	T	0.013157	0.32344	T	0.077	0.22490	0.218	0.13932	0.826173596387	0.82452	0.028771188836604556	0.02827	0.161903528534	0.18264	0.361519306898	0.19607	T	0.001425	0.00883	T	-0.199017	0.20947	T	-0.52365	0.19925	T	0.0504586418347531	0.05581	T	0.519248	0.16884	T	0.019892972	0.00530	0.033765323	0.02327	0.019892972	0.00530	0.033765323	0.02326	-5.504	0.41905	T	.	.	0.086	0.17700	B	.;.	.;.	0.211766	0.05954	2.392	0.75584978553886684	0.11132	0.71590	0.35079	D	AEFBI	0.084446	0.17114	N	-0.564472322985564	0.20031	1.053027	-0.470573285432233	0.22969	1.250237	0.809908035207129	0.24336	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.94	1.66	0.23081	0.580000	0.23505	0.289000	0.16851	0.676000	0.76740	1.000000	0.71638	0.000000	0.08366	0.027000	0.12703	0.3857:0.0:0.4205:0.1938	3.160	0.06128	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	35.17	23	chr13	114301925	.	G	A	35.17	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.371;DP=241;ExcessHet=0;FS=78.651;MLEAC=1;MLEAF=0.125;MQ=51.82;MQRankSum=-0.575;QD=0.58;ReadPosRankSum=1.1;SOR=6.735	GT:AD:DP:GQ:PL	0/1:43,18:68:43:43,0,850	3	0	1	3
chr14	19935751	19935751	G	A	exonic	OR4K1	.	nonsynonymous SNV	OR4K1:NM_001004063:exon1:c.G85A:p.A29T	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000895726507819	.	0.000798722	0.0007	0	0.0003	0	0.0002	0.0001	0.0033	0.0044	0.0006015	93	154602	rs567416945	0.0003	0.0003	0.0002	0.0003	0.0033	0.0002	0.0002	0.0030	0.0028	0	0.0003	0	5.042e-05	3.746e-05	0.0016	4.318e-05	0.0006	0.0033	0.0002	0.0002	0.0002	0.0002	0.0023	0.0001	0.0001	0.0013	0.0010	7.229e-05	0	0.0009	0	0	9.479e-05	0	0	0.0005	0.0023	0.057	0.37966	T	0.059	0.45961	T	0.0	0.02946	B	0.001	0.04355	B	0.153472	0.17891	N	0.510793	1	0.08975	N	0.47	0.13106	N	7.42	0.00404	T	-0.62	0.18248	N	0.056	0.02759	-0.9354	0.43333	T	0.001	0.00222	T	10	0.0027258098	0.00042	T	8.96E-4	0.00822	T	0.026	0.05648	0.365	0.37199	0.143124449307	0.13826	0.08590901483038506	0.08524	9.22648080292E-4	0.00079	0.222378313541	0.01452	T	0.005148	0.04592	T	-0.705625	0.00034	T	-0.788147	0.02216	T	0.00799009405573252	0.00094	T	0.105489	0.00786	T	0.06553517	0.14014	0.060310073	0.11466	0.06553517	0.14013	0.060310073	0.11465	-3.568	0.17395	T	.	.	0.077	0.06756	B	.;.;.	.;.;.	0.728219	0.10974	7.637	0.96975643507948395	0.31839	0.06458	0.12466	N	AEFGI	0.058723	0.11038	N	-0.822990604251722	0.12724	0.6220568	-0.787597397434311	0.14799	0.7751637	0.351019023223382	0.19683	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.68	0.49	0.16070	-2.021000	0.01528	-2.421000	0.03775	-0.103000	0.15852	0.000000	0.06391	0.000000	0.08366	0.750000	0.35786	0.0878:0.1457:0.3196:0.4469	3.131	0.06037	988	0.01987	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1646.44	35	chr14	19935751	.	G	A	1646.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.64;DP=679;ExcessHet=0;FS=1.346;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=0.027;SOR=0.571	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:120,0:120:99:.:.:0,120,1800:.	6	0	1	0
chr14	20034347	20034347	G	C	exonic	OR4K13	.	nonsynonymous SNV	OR4K13:NM_001004714:exon1:c.C412G:p.P138A	.	433	1044	44	1	0	46	0.0215558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	0.0065	0.00579073	0.0088	0.0016	0.0059	0.0001	0.0089	0.0098	0.0088	0.0158	0.0083375	1289	154602	rs140037435	0.0074	0.0074	0.0070	0.0079	0.0246	0.0073	0.0073	0.0213	0.0201	0.0021	0.0059	0.0075	5.038e-05	0.0093	0.0246	0.0070	0.0077	0.0169	0.0065	0.0065	0.0060	0.0071	0.0131	0.0062	0.0061	0.0105	0.0096	0.0025	0	0.0077	0.0086	0	0.0101	0.0136	0.0080	0.0123	0.0131	0.506	0.07594	T	0.499	0.11227	T	0.001	0.07471	B	0.002	0.06944	B	0.213433	0.16310	U	0.445574	1	0.08975	N	2.51	0.73131	M	6.89	0.00474	T	0.37	0.03639	N	0.113	0.10056	-0.9297	0.44183	T	0.001	0.00467	T	10	0.005253941	0.00115	T	.	.	.	0.099	0.28413	.	.	0.466398759226	0.46266	0.09936842455482309	0.09867	0.0317747987355	0.03293	0.166529595852	0.00021	T	0.001681	0.01111	T	-0.621796	0.00107	T	-0.652317	0.08793	T	0.0113371803637355	0.00168	T	0.138286	0.01102	T	0.06394648	0.13516	0.07882559	0.17691	0.06394648	0.13515	0.07882559	0.17691	-5.663	0.43363	T	.	.	0.119	0.24430	B	.;.;.	.;.;.	1.520134	0.19514	14.30	0.44548566857249378	0.03433	0.09521	0.15258	N	AEFGBI	0.067679	0.13317	N	-0.719005020069141	0.15489	0.7809694	-0.776225956251915	0.15079	0.7912289	9.31567096996979E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.6	3.6	0.40374	-0.048000	0.11898	-2.441000	0.03750	0.664000	0.56970	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7917:0.2083	9.683	0.39245	988	0.01987	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019657	0.015152	0.019022	0.020468	0.000000	0.017241	0.024540	0.018939	0.1429	1002.24	33	chr14	20034347	.	G	C	1002.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.377;DP=270;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=-0.524;SOR=0.739	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	5	0	2	0
chr14	20060399	20060399	G	A	exonic	OR4L1	.	nonsynonymous SNV	OR4L1:NM_001004717:exon1:c.G355A:p.A119T	.	433	1043	44	2	0	48	0.022493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	.	0.0063	0.00479233	0.0089	0.0006	0.0059	0.0001	0.0089	0.0100	0.0079	0.0178	0.0082729	1279	154602	rs143026565	0.0075	0.0075	0.0070	0.0079	0.0254	0.0073	0.0073	0.0220	0.0208	0.0010	0.0059	0.0076	5.042e-05	0.0094	0.0254	0.0071	0.0076	0.0171	0.0062	0.0062	0.0056	0.0068	0.0129	0.0059	0.0057	0.0103	0.0094	0.0013	0	0.0075	0.0087	0	0.0102	0.0170	0.0080	0.0114	0.0129	0.0	0.91255	D	0.006	0.70582	D	0.999	0.77913	D	0.94	0.67560	D	0.000035	0.55875	D	0.000000	0.881307	0.35757	D	3.945	0.96414	H	0.59	0.53943	T	-3.4	0.67014	D	0.39	0.43126	0.111	0.84372	D	0.360	0.72186	T	10	0.008559376	0.00194	T	.	.	.	0.286	0.60456	.	.	0.837606238042	0.83606	0.14664065391702064	0.14586	0.0716432769509	0.08030	0.28809428215	0.08645	T	0.011748	0.10435	T	-0.238466	0.15545	T	-0.101036	0.63319	T	0.0508499382368578	0.05649	T	0.849215	0.53152	T	0.8905497	0.90554	0.832073	0.90320	0.8905497	0.90555	0.832073	0.90321	-9.221	0.69108	D	.	.	0.261	0.49586	B	.	.	4.345858	0.66707	25.0	0.99896933638575758	0.96971	0.97189	0.73214	D	AEFI	0.413116	0.48292	N	0.788998937138589	0.85411	8.568299	0.632162746140439	0.77289	6.650622	0.0929723915690901	0.16171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.18	4.18	0.48473	3.537000	0.53345	7.771000	0.68472	0.653000	0.53440	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.7905:0.2095	9.570	0.38589	988	0.01987	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017623	0.010101	0.014946	0.023392	0.000000	0.008621	0.027439	0.018939	0.2143	752.1	64	chr14	20060399	.	G	A	752.1	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.328;DP=443;ExcessHet=0;FS=0.942;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-3.011;SOR=0.667	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	5	1	1	0
chr14	20197790	20197790	T	C	exonic	OR11G2	.	nonsynonymous SNV	OR11G2:NM_001005503:exon1:c.T455C:p.F152S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0032970113309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	0.997	0.70673	D	0.898	0.63708	P	0.284342	0.14886	N	0.595326	0.966942	0.25871	N	0.485	0.13215	N	4.98	0.01344	T	-6.72	0.92561	D	0.519	0.54932	-1.0620	0.11263	T	0.016	0.06329	T	10	0.26372594	0.43853	T	0.003297	0.07329	T	0.153	0.40148	0.419	0.46036	0.707991828018	0.70544	0.2828032169026338	0.28193	0.519446559066	0.49770	0.26745018363	0.05810	T	0.046284	0.27377	T	-0.110535	0.34681	T	-0.396553	0.33787	T	0.9815753698349	0.73989	D	0.611339	0.25265	T	0.78225386	0.82792	0.80513203	0.88592	0.78225386	0.82794	0.80513203	0.88593	-7.571	0.58108	D	.	.	0.615	0.69497	P	.;.;.	.;.;.	4.488765	0.70096	25.5	0.9984110964259294	0.92143	0.78996	0.39064	D	AEFBHCI	0.551946	0.56380	D	0.471160689873154	0.65414	4.819377	0.419918470374182	0.62805	4.502508	0.829266799314032	0.24663	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.93	4.93	0.64394	2.555000	0.45515	0.645000	0.20357	0.651000	0.53179	0.106000	0.22914	0.003000	0.18671	0.966000	0.53164	0.0:0.0:0.0:1.0	13.704	0.62109	970	0.06235	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2761.44	112	chr14	20197790	.	T	C	2761.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.267;DP=925;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=1.8;SOR=0.663	GT:AD:DP:GQ:PL	0/0:198,0:198:99:0,120,1800	6	0	1	0
chr14	20223833	20223833	C	A	exonic	OR11H6	.	nonsynonymous SNV	OR11H6:NM_001004480:exon1:c.C124A:p.Q42K	.	426	1070	26	0	0	26	0.0120037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.00327869525543	0.0024	0.00119808	0.0034	0.0011	0.0013	0.0001	0.0006	0.0037	0.0033	0.0082	0.00315	487	154602	rs141900029	0.0030	0.0030	0.0029	0.0032	0.0104	0.0030	0.0029	0.0083	0.0080	0.0007	0.0013	0.0001	2.519e-05	0.0008	0.0104	0.0030	0.0026	0.0087	0.0018	0.0018	0.0017	0.0020	0.0060	0.0017	0.0016	0.0043	0.0037	0.0009	0	0.0019	0	0	9.422e-05	0.0034	0.0026	0.0024	0.0060	0.017	0.51248	D	0.014	0.62352	D	0.012	0.16265	B	0.023	0.19966	B	0.119927	0.19055	U	0.376412	1	0.08975	N	1.635	0.41844	L	6.35	0.00549	T	-3.42	0.67241	D	0.218	0.24385	-0.9727	0.36627	T	0.003	0.00994	T	10	0.0035639107	0.00064	T	0.003279	0.07268	T	0.079	0.23065	.	.	0.329020015101	0.32502	0.292342756751229	0.29147	0.0761378595763	0.08550	0.271162599325	0.06293	T	0.030945	0.21813	T	-0.505184	0.00534	T	-0.493171	0.23058	T	0.00777657093720953	0.00091	T	0.415458	0.10884	T	0.30383703	0.53247	0.2764091	0.53585	0.30383703	0.53247	0.2764091	0.53584	-6.075	0.46902	T	.	.	0.101	0.17700	B	.	.	1.757513	0.22356	15.59	0.95042505583902015	0.26050	0.09560	0.15289	N	AEFDBI	0.047087	0.07891	N	-0.481381383298096	0.22691	1.213424	-0.493516027424413	0.22331	1.21242	0.988747229721845	0.31614	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.93	3.03	0.34070	1.181000	0.31626	0.565000	0.19549	0.570000	0.28895	0.001000	0.13787	0.000000	0.08366	0.454000	0.27984	0.0:0.8926:0.0:0.1074	9.515	0.38263	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.008152	0.002924	0.000000	0.008621	0.003049	0.015152	0.07143	1809.44	34	chr14	20223833	.	C	A	1809.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.789;DP=341;ExcessHet=0;FS=0.62;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-0.116;SOR=0.768	GT:AD:DP:GQ:PL	0/1:74,70:144:99:1820,0,1912	6	0	1	0
chr14	20377611	20377611	T	C	exonic	TEP1	.	nonsynonymous SNV	TEP1:NM_001319035:exon38:c.A5540G:p.K1847R,TEP1:NM_007110:exon40:c.A5864G:p.K1955R	.	410	1084	27	1	0	29	0.0131998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.0166966968595	0.0021	0.00159744	0.0028	0.0010	0.0030	0	0.0011	0.0037	0.0033	0.0022	0.0027102	419	154602	rs34895824	0.0028	0.0028	0.0028	0.0028	0.0135	0.0027	0.0027	0.0111	0.0102	0.0009	0.0032	0.0027	0	0.0011	0.0135	0.0029	0.0037	0.0024	0.0021	0.0021	0.0021	0.0020	0.0032	0.0019	0.0018	0.0028	0.0027	0.0007	0	0.0022	0.0043	0	0.0005	0.0068	0.0032	0.0024	0.0025	0.62	0.05808	T	0.931	0.02786	T	0.0	0.02946	B	0.0	0.04355	B	0.285065	0.14873	N	0.672864	0.999993	0.08975	N	-0.635	0.02130	N	0.68	0.70365	T	-0.27	0.11366	N	0.187	0.22228	-0.9518	0.40660	T	0.080	0.31615	T	10	0.0056263506	0.00125	T	0.016697	0.38080	T	0.079	0.23065	.	.	0.32082282376	0.31691	0.21480877555315284	0.21396	0.0878513026773	0.09920	0.225775882602	0.01670	T	0.057569	0.30604	T	-0.530939	0.00379	T	-0.537223	0.18570	T	0.00435242112383555	0.00046	T	0.60194	0.22516	T	0.0279666	0.02064	0.03470268	0.02585	0.0279666	0.02063	0.03470268	0.02585	-1.84	0.02631	T	.	.	0.066	0.02091	B	.;.	.;.	0.176948	0.05651	2.101	0.89923003686189484	0.19221	0.00988	0.03756	N	AEFDBI	0.032231	0.03598	N	-1.4550496212612	0.02177	0.09585517	-1.46142780822032	0.02668	0.1231468	0.99997061302136	0.50053	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.33	-8.8	0.00705	-0.116000	0.10697	-1.813000	0.04679	0.665000	0.62972	0.003000	0.16062	0.000000	0.08366	0.987000	0.62547	0.0:0.5529:0.3084:0.1387	10.291	0.42780	929	0.16858	WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.005051	0.013587	0.008772	0.000000	0.017241	0.006098	0.003788	0.07143	2221.44	34	chr14	20377611	.	T	C	2221.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.171;DP=353;ExcessHet=0;FS=0.592;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=0.138;SOR=0.715	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1138	6	0	1	0
chr14	20584035	20584035	C	T	exonic	RNASE11	.	nonsynonymous SNV	RNASE11:NM_145250:exon3:c.G440A:p.C147Y	.	431	1086	5	0	0	5	0.00229674	.	.	.	2765872	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.140	0.00735921811052	.	0.000199681	0.0002	0	0.0003	0	0	7.503e-05	0	0.0011	0.0001746	27	154602	rs151131974	0.0001	0.0001	7.351e-05	0.0001	0.0019	8.713e-05	8.2e-05	0.0011	0.0008	0	8.945e-05	0	0	0	0.0019	3.237e-05	0.0002	0.0010	5.909e-05	5.906e-05	6.424e-05	5.371e-05	0.0008	3.075e-05	2.209e-05	0.0003	0.0002	0	0	0	0	0	0	0	7.351e-05	0	0.0008	0.186	0.22486	T	0.519	0.10501	T	0.058	0.22967	B	0.029	0.21540	B	0.002655	0.36173	N	0.224065	1	0.08975	N	1.79	0.46772	L	-1.02	0.76300	T	-4.96	0.88767	D	0.074	0.07811	-0.9980	0.30479	T	0.163	0.49864	T	10	0.014668316	0.00308	T	0.007359	0.19523	T	0.140	0.37593	.	.	0.211220785272	0.20719	0.2328282016904606	0.23197	.	.	0.276590049267	0.07021	T	0.107313	0.41941	T	-0.350637	0.04687	T	-0.33279	0.41157	T	0.0248955837506147	0.01258	T	0.40126	0.10220	T	0.115086384	0.27161	0.19686542	0.43439	0.115086384	0.27161	0.19686542	0.43438	-3.704	0.19377	T	.	.	0.126	0.30318	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.288052	0.16887	12.83	0.91188942563662867	0.20444	0.01423	0.04798	N	AEFBI	0.064085	0.12422	N	-1.14878869127767	0.05799	0.2653425	-1.20655950234561	0.05804	0.2775745	0.99918908366295	0.38681	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	3.94	-3.12	0.04959	-0.289000	0.08401	-1.865000	0.04588	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.905000	0.44082	0.4042:0.3086:0.0:0.2872	3.365	0.06779	940	0.13648	Ribonuclease A-domain;Ribonuclease A-domain;Ribonuclease A-domain;Ribonuclease A-domain;Ribonuclease A-domain;Ribonuclease A-domain;Ribonuclease A-domain;Ribonuclease A-domain;Ribonuclease A-domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1273.49	93	chr14	20584035	.	C	T	1273.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.182;DP=279;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=-0.116;SOR=0.707	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1286	6	0	1	0
chr14	20641346	20641346	G	T	exonic	OR6S1	.	nonsynonymous SNV	OR6S1:NM_001001968:exon1:c.C346A:p.L116M	.	425	1022	71	4	0	79	0.0372115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	.	0.0070	0.00678914	0.0100	0.0009	0.0073	0.0002	0.0142	0.0092	0.0132	0.0239	0.0095924	1483	154602	rs72659934	0.0096	0.0096	0.0091	0.0102	0.0251	0.0095	0.0094	0.0242	0.0238	0.0011	0.0058	0.0066	0.0001	0.0151	0.0186	0.0090	0.0093	0.0251	0.0073	0.0073	0.0067	0.0080	0.0243	0.0069	0.0068	0.0207	0.0193	0.0013	0.0164	0.0080	0.0049	0.0008	0.0157	0.0068	0.0087	0.0100	0.0243	0.002	0.72154	D	0.005	0.72224	D	0.99	0.63424	D	0.895	0.63489	P	0.002465	0.36499	N	0.000000	0.999994	0.08975	N	3.03	0.86425	M	2.6	0.13204	T	-1.75	0.41428	N	0.245	0.27673	-1.0891	0.05684	T	0.059	0.24760	T	10	0.0075003207	0.00170	T	.	.	.	0.106	0.30130	.	.	.	.	0.08102884940831236	0.08037	0.0777633554608	0.08748	0.300130873919	0.10420	T	0.007311	0.06724	T	-0.483694	0.00704	T	-0.449316	0.27773	T	0.0483692759940438	0.05211	T	0.938006	0.76748	D	0.50906944	0.67625	0.53427285	0.73088	0.50906944	0.67626	0.53427285	0.73089	-8.335	0.63331	D	.	.	0.279	0.51236	B	.	.	2.848611	0.37605	20.5	0.99636242048711365	0.76387	0.22463	0.21755	N	AEFBI	0.095467	0.19287	N	0.367726829928538	0.59681	4.14961	0.291694043039854	0.55051	3.668843	0.146601963832402	0.17369	0.59774	0.34471	0	0.550933	0.16991	0	0.547309	0.15389	0	0.63947	0.58350	0	.	.	5.22	4.32	0.50899	0.678000	0.24956	1.260000	0.25225	0.656000	0.54149	0.239000	0.24738	0.767000	0.26670	0.950000	0.49671	0.0864:0.0:0.9136:0.0	11.814	0.51473	940	0.13648	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018127	0.000000	0.017663	0.017544	0.100000	0.034483	0.018293	0.030303	0.07143	1138.53	82	chr14	20641346	.	G	T	1138.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.026;DP=373;ExcessHet=0;FS=5.697;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=0.771;SOR=0.474	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	6	0	1	0
chr14	20641390	20641390	G	T	exonic	OR6S1	.	nonsynonymous SNV	OR6S1:NM_001001968:exon1:c.C302A:p.T101N	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00285869788617	.	0.00179712	0.0009	0	8.637e-05	0	0	0	0	0.0067	0.0008021	124	154602	rs577080351	0.0003	0.0003	0.0002	0.0005	0.0056	0.0003	0.0003	0.0052	0.0050	2.987e-05	0	0	0	0	0.0007	3.597e-06	0.0003	0.0056	0.0002	0.0002	0.0001	0.0003	0.0064	0.0002	0.0001	0.0047	0.0041	0	0	0	0	0	0	0	1.47e-05	0	0.0064	0.002	0.72154	D	0.025	0.56192	D	0.76	0.43524	P	0.522	0.48285	P	0.110010	0.19460	N	0.436531	1	0.08975	N	3.525	0.93020	H	4.08	0.03003	T	-3.46	0.67705	D	0.495	0.52829	-1.0442	0.16059	T	0.019	0.08173	T	10	0.009497911	0.00214	T	0.002859	0.06015	T	0.094	0.27141	0.448	0.50793	0.566121633045	0.56276	0.1097530927884315	0.10904	0.0232995929772	0.02366	0.34138405323	0.16645	T	0.005962	0.05402	T	-0.455572	0.01047	T	-0.424424	0.30569	T	0.278589058412922	0.24112	T	0.20138	0.02300	T	0.4838798	0.66135	0.7320531	0.84166	0.4838798	0.66135	0.7320531	0.84167	-9.894	0.73274	D	.	.	0.357	0.57053	A	.	.	3.529230	0.49512	22.8	0.99283512833859244	0.58008	0.21322	0.21360	N	AEFBI	0.123714	0.23944	N	0.2113976432456	0.51751	3.353944	0.179499319358415	0.48724	3.084581	0.403809005002229	0.20153	0.59774	0.34471	0	0.550933	0.16991	0	0.547309	0.15389	0	0.63947	0.58350	0	.	.	5.22	4.08	0.46880	0.256000	0.18120	3.467000	0.38554	0.656000	0.54149	0.000000	0.06391	0.547000	0.25447	0.994000	0.71098	0.2405:0.0:0.7595:0.0	5.406	0.15620	940	0.13648	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1049.53	96	chr14	20641390	.	G	T	1049.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.55;DP=386;ExcessHet=0;FS=1.658;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-1.069;SOR=0.573	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	6	0	1	0
chr14	20747837	20747837	G	A	exonic	EDDM3A	.	nonsynonymous SNV	EDDM3A:NM_006683:exon2:c.G257A:p.S86N	.	.	.	.	.	.	.	.	.	.	.	2714571	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.00245575216734	.	.	8.243e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs532594291	1.984e-05	2.052e-05	2.45e-05	1.513e-05	2.608e-05	1.392e-05	1.203e-05	1.83e-05	1.582e-05	0	0	0	0	0	0	2.608e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.12961	T	0.522	0.10391	T	0.001	0.07471	B	0.001	0.04355	B	0.423104	0.04660	N	1.378240	1	0.08975	N	0.405	0.12330	N	0.94	0.43672	T	1.0	0.01408	N	0.028	0.00618	-1.0510	0.14119	T	0.073	0.29675	T	10	0.028373152	0.00970	T	0.002456	0.04840	T	0.054	0.15330	0.147	0.05039	0.194818534648	0.19098	0.10616492581970637	0.10546	0.036009807883	0.03802	0.300982058048	0.10548	T	0.001993	0.01403	T	-0.476151	0.00779	T	-0.814078	0.01576	T	0.0474835187196732	0.05051	T	0.264674	0.04299	T	0.030141084	0.02626	0.05337572	0.08979	0.030141084	0.02625	0.05337572	0.08978	-3.531	0.16869	T	.	.	0.065	0.01834	B	.	.	0.351038	0.07241	3.840	0.94416396250383516	0.24819	0.00498	0.02351	N	AEFBI	0.018529	0.00569	N	-1.17509415503401	0.05378	0.2450481	-1.26639008852798	0.04893	0.2318861	0.697169479521736	0.22654	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	1.9	-1.21	0.09033	-0.479000	0.06647	1.884000	0.29472	0.373000	0.20310	0.010000	0.18352	0.941000	0.28781	0.823000	0.38780	0.487:0.0:0.513:0.0	5.105	0.14111	779	0.47767	Ribonuclease A-domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	50.74	36	chr14	20747837	.	G	A	50.74	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.407;DP=382;ExcessHet=0.4139;FS=172.31;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=0.171;SOR=7.742	GT:AD:DP:GQ:PL	0/1:89,24:127:13:13,0,1908	4	0	2	1
chr14	20801831	20801831	C	G	exonic	RNASE1	.	nonsynonymous SNV	RNASE1:NM_002933:exon2:c.G238C:p.V80L,RNASE1:NM_198232:exon2:c.G238C:p.V80L,RNASE1:NM_198234:exon3:c.G238C:p.V80L,RNASE1:NM_198235:exon3:c.G238C:p.V80L	.	433	1076	13	0	0	13	0.00600462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0345152273681	0.0012	0.000998403	0.0011	0.0005	0.0011	0	0	0.0015	0.0022	0.0006	0.001009	156	154602	rs142457376	0.0008	0.0008	0.0008	0.0008	0.0107	0.0008	0.0008	0.0086	0.0078	0.0005	0.0014	0.0131	0	0	0.0107	0.0005	0.0019	0.0006	0.0012	0.0012	0.0012	0.0013	0.0028	0.0011	0.0010	0.0021	0.0019	0.0005	0	0.0028	0.0170	0	0	0.0068	0.0007	0.0024	0.0010	0.184	0.21634	T	0.287	0.21545	T	0.538	0.37867	P	0.737	0.55577	P	0.081637	0.02360	N	1.935630	1	0.08975	N	2.585	0.75554	M	-0.65	0.72237	T	-0.99	0.26200	N	0.085	0.12055	-0.8234	0.53720	T	0.366	0.72613	T	10	0.0060372055	0.00136	T	0.034515	0.55729	D	0.173	0.43840	0.393	0.41770	0.761234673595	0.75906	0.4274137724611425	0.42658	0.180965121271	0.20352	0.32569488883	0.14282	T	0.129211	0.45735	T	-0.502198	0.00556	T	-0.524228	0.19868	T	0.069470806208133	0.08577	T	0.935406	0.75832	D	0.1311033	0.30570	0.09673391	0.22997	0.1311033	0.30570	0.09673391	0.22997	-3.438	0.15573	T	.	.	0.126	0.26638	B	.;.;.;.;.	.;.;.;.;.	1.445275	0.18657	13.85	0.98001122826058029	0.37476	0.05891	0.11841	N	AEFDBHCI	0.244363	0.36548	N	-0.368410717697269	0.26600	1.453022	-0.526823143439364	0.21426	1.159001	0.999999999920046	0.74766	0.758104	0.99027	0	0.491513	0.07743	0	0.691618	0.62860	0	0.657601	0.63696	0	.	.	5.16	0.835	0.18020	-0.677000	0.05315	-1.098000	0.06337	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.730000	0.35099	0.1528:0.4635:0.2973:0.0864	3.955	0.08880	573	0.70213	Ribonuclease A-domain|Ribonuclease A-domain;Ribonuclease A-domain|Ribonuclease A-domain;Ribonuclease A-domain|Ribonuclease A-domain;Ribonuclease A-domain|Ribonuclease A-domain;Ribonuclease A-domain|Ribonuclease A-domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009063	0.005051	0.010870	0.014620	0.000000	0.008621	0.009146	0.000000	0.07143	2208.44	36	chr14	20801831	.	C	G	2208.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.334;DP=371;ExcessHet=0;FS=1.179;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-1.443;SOR=0.577	GT:AD:DP:GQ:PL	0/1:95,88:183:99:2219,0,2463	6	0	1	0
chr14	21058256	21058256	G	A	exonic	RNASE8	.	nonsynonymous SNV	RNASE8:NM_138331:exon1:c.G364A:p.E122K	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0147330918215	.	0.000798722	0.0004	0	0	0.0037	0	4.497e-05	0	0.0005	0.000304	47	154602	rs140610133	0.0002	0.0002	0.0002	0.0002	0.0028	0.0002	0.0001	0.0024	0.0023	0	2.236e-05	3.826e-05	0.0028	1.872e-05	0.0010	7.824e-05	0.0002	0.0003	0.0002	0.0002	0.0001	0.0003	0.0041	0.0001	0.0001	0.0027	0.0023	0	0	0	0	0.0041	0	0	0.0001	0	0.0004	0.307	0.14159	T	0.872	0.03296	T	0.001	0.07471	B	0.018	0.18489	B	0.754935	0.09670	N	0.885614	1	0.08975	N	1.965	0.53209	M	-0.68	0.72568	T	-1.79	0.42191	N	0.165	0.17416	-1.0015	0.29488	T	0.135	0.45010	T	10	0.00453797	0.00094	T	0.014733	0.35036	T	0.094	0.27141	.	.	0.312306559268	0.30836	0.6161331992842477	0.61545	0.471812346882	0.46434	0.287520974874	0.08562	T	0.019378	0.15452	T	-0.473251	0.00811	T	-0.454674	0.27182	T	0.0112016561535282	0.00164	T	0.468753	0.13831	T	0.07586022	0.17118	0.052021105	0.08490	0.07586022	0.17118	0.052021105	0.08489	-3.037	0.10585	T	.	.	0.126	0.26669	B	.	.	1.159492	0.15481	11.88	0.68556342012252247	0.08694	0.03842	0.09192	N	AEFGBI	0.038389	0.05426	N	-1.06108530656938	0.07372	0.3422369	-1.12749778053297	0.07178	0.3482037	0.999236168647473	0.38840	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.8	-0.489	0.11451	0.169000	0.16457	-0.278000	0.10292	-0.110000	0.15115	0.000000	0.06391	0.000000	0.08366	0.049000	0.15107	0.2348:0.4184:0.3468:0.0	4.420	0.10904	946	0.12043	Ribonuclease A-domain|Ribonuclease A-domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	3101.44	33	chr14	21058256	.	G	A	3101.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.458;DP=449;ExcessHet=0;FS=1;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.255;SOR=0.778	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1251	6	0	1	0
chr14	21074797	21074799	GAG	-	exonic	ARHGEF40	.	nonframeshift deletion	ARHGEF40:NM_018071:exon3:c.1067_1069del:p.G362del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0057	0.000798722	0.0008	0.0008	0.0014	0.0004	0.0002	0.0008	0.0025	0.0011	0.0006533	101	154602	rs545146973	0.0002	0.0005	0.0002	0.0003	0.0009	0.0002	0.0002	0.0006	0.0006	9.019e-05	0.0009	0.0002	0.0003	0.0002	0.0004	0.0002	0.0003	0.0004	0.0001	0.0001	0.0001	0.0001	0.0007	8.664e-05	7.256e-05	0.0004	0.0003	2.406e-05	0	0.0007	0	0	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185109	0.277778	0.132514	0.128655	0.200000	0.184211	0.202532	0.146154	0.07143	577.45	29	chr14	21074796	.	AGAG	A	577.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.202;DP=236;ExcessHet=0;FS=1.485;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.91;ReadPosRankSum=0.918;SOR=0.375	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1324	6	0	1	0
chr14	21326062	21326062	C	T	exonic	RPGRIP1	.	nonsynonymous SNV	RPGRIP1:NM_001377948:exon7:c.C1525T:p.R509W,RPGRIP1:NM_020366:exon17:c.C2599T:p.R867W	Cone-rod dystrophy 13;Leber congenital amaurosis 6	1	1519	2	0	0	2	0.000657895	.	.	.	177015	not_specified|Cone-rod_dystrophy_13|Leber_congenital_amaurosis_6	MedGen:CN169374|MONDO:MONDO:0011987,MedGen:C2750720,OMIM:608194,Orphanet:1872|MONDO:MONDO:0013446,MedGen:C1854260,OMIM:613826,Orphanet:65	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.275	0.0337753729808	0.0019	0.00259585	0.0007	0.0063	0.0006	0.0002	0	1.5e-05	0	0.0004	0.0006468	100	154602	rs186803989	0.0002	0.0002	0.0002	0.0002	0.0056	0.0002	0.0002	0.0050	0.0047	0.0056	0.0004	0	2.519e-05	0	0.0012	4.767e-05	0.0003	0.0003	0.0017	0.0017	0.0018	0.0017	0.0061	0.0015	0.0015	0.0055	0.0052	0.0061	0	0.0001	0	0.0002	0	0	0	0.0024	0.0004	0.084	0.32929	T	0.077	0.43721	T	0.009	0.15093	B	0.003	0.08700	B	0.119679	0.19065	N	0.568233	0.997782	0.44189	D	1.155	0.29575	L	-2.35	0.88066	D	-2.86	0.62151	D	0.253	0.29081	-0.7203	0.59449	T	0.291	0.66316	T	10	0.0068340898	0.00155	T	0.033775	0.55220	D	0.275	0.59130	.	.	0.83501569805	0.83344	0.4919556089051551	0.49116	0.0721809193313	0.08090	0.22621807456	0.01700	T	0.09872	0.57277	T	-0.358598	0.04209	T	-0.284988	0.46292	T	0.0158608499601534	0.00372	T	0.741926	0.36121	T	0.102459155	0.24212	0.10245883	0.24557	0.10174799	0.24036	0.13032167	0.31315	-7.772	0.59506	D	0.649972062814764	0.72196	0.122	0.25592	B	.;.;.	.;.;.	2.303218	0.29477	18.13	0.98722460769288756	0.45230	0.06258	0.12249	N	AEFBI	0.208955	0.33499	N	-0.616086159376306	0.18461	0.9586124	-0.496601072337476	0.22248	1.207442	0.998543272720961	0.37167	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.87	3.98	0.45383	-0.121000	0.10618	0.566000	0.19559	0.599000	0.40250	0.001000	0.13787	0.078000	0.22336	0.772000	0.36596	0.1663:0.5841:0.161:0.0887	3.825	0.08364	952	0.10565	C2 domain;C2 domain;C2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1840.46	166	chr14	21326062	.	C	T	1840.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.256;DP=349;ExcessHet=0;FS=1.949;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=0.304;SOR=0.874	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1279	6	0	1	0
chr14	22771321	22771321	C	T	exonic	OXA1L	.	nonsynonymous SNV	OXA1L:NM_005015:exon9:c.C1156T:p.R386W	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.0630633126355	0.0002	0.000399361	0.0002	0	0	0.0022	0	7.494e-05	0	0.0003	0.0002199	34	154602	rs201917650	9.714e-05	9.713e-05	8.031e-05	0.0001	0.0013	8.377e-05	7.915e-05	0.0010	0.0009	5.974e-05	6.709e-05	0.0002	0.0013	1.872e-05	0.0002	4.676e-05	0.0001	0.0002	0.0001	0.0001	7.709e-05	0.0001	0.0008	7.086e-05	5.743e-05	0.0003	0.0002	0.0002	0	0	0	0.0008	0	0	5.88e-05	0.0005	0	0.004	0.68238	D	0.008	0.67890	D	.	.	.	.	.	.	0.000446	0.44317	D	0.232973	1	0.81001	D	.	.	.	1.4	0.33630	T	-3.23	0.65056	D	0.26	0.29659	-1.0288	0.20843	T	0.075	0.30179	T	10	0.016230643	0.00342	T	0.063063	0.68850	D	0.060	0.17295	.	.	0.67593064658	0.67318	0.49653182005455365	0.49574	0.298180099167	0.32205	0.211020484567	0.00855	T	0.067408	0.33193	T	-0.47327	0.00811	T	-0.45986	0.26615	T	0.212013692394079	0.21058	T	0.860814	0.55431	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.33619	B	.;.;.;.	.;.;.;.	4.604992	0.72972	25.9	0.99905699180533036	0.97651	0.85216	0.44329	D	AEFBCI	0.790109	0.71910	D	0.19773802859562	0.51089	3.293121	0.228124974742874	0.51414	3.324116	0.973883793906513	0.29494	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.71	3.82	0.43153	3.651000	0.54172	1.412000	0.26289	0.599000	0.40250	1.000000	0.71638	0.968000	0.29604	0.402000	0.26827	0.2722:0.6478:0.0:0.08	7.353	0.25876	916	0.20744	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1362.63	64	chr14	22771321	.	C	T	1362.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.02;DP=418;ExcessHet=0;FS=1.553;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0;SOR=0.895	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1417	6	0	1	0
chr14	23042569	23042569	G	A	exonic	PSMB11	.	nonsynonymous SNV	PSMB11:NM_001099780:exon1:c.G344A:p.R115Q	.	424	1090	7	1	0	9	0.00411147	.	.	.	2810269	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.100	0.0225218444397	0.0012	0.000798722	0.0018	0.0007	0.0005	0.0020	0.0009	0.0021	0.0022	0.0025	0.0017529	271	154602	rs202220440	0.0019	0.0019	0.0019	0.0020	0.0028	0.0019	0.0019	0.0025	0.0024	0.0003	0.0007	3.828e-05	0.0009	0.0007	0.0021	0.0022	0.0011	0.0028	0.0014	0.0014	0.0013	0.0015	0.0037	0.0013	0.0012	0.0024	0.0020	0.0006	0	0.0005	0.0003	0.0013	9.409e-05	0	0.0022	0.0009	0.0037	0.04	0.42199	D	0.032	0.53426	D	0.971	0.57185	D	0.59	0.50460	P	0.000822	0.41547	D	0.174739	0.950041	0.26517	N	0.55	0.14455	N	1.97	0.22067	T	0.38	0.03579	N	0.273	0.30914	-1.0875	0.05960	T	0.046	0.19680	T	10	0.0143787265	0.00303	T	0.022522	0.45416	T	0.100	0.28662	.	.	0.580281640613	0.57699	0.5769268162885889	0.57621	0.595449407768	0.54820	0.467669606209	0.34360	T	0.043697	0.26582	T	-0.495346	0.00607	T	-0.489233	0.23473	T	0.0223918970949931	0.00953	T	0.916508	0.70155	D	0.19990437	0.41946	0.12512404	0.30151	0.19990437	0.41946	0.12512404	0.30150	-2.607	0.06556	T	.	.	0.104	0.18663	B	.	.	4.707604	0.75589	26.4	0.99949124476078999	0.99931	0.66253	0.33014	D	AEFDBCI	0.221739	0.34632	N	0.333856847966125	0.57894	3.958678	0.396283842639736	0.61335	4.332199	0.999999718240746	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.24	5.24	0.72863	2.898000	0.48370	9.989000	0.82972	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.967000	0.53440	0.0:0.0:0.835:0.165	12.689	0.56329	798	0.45050	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.007576	0.07143	2982.63	37	chr14	23042569	.	G	A	2982.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.75;DP=394;ExcessHet=0;FS=2.395;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=0.388;SOR=0.534	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1123	6	0	1	0
chr14	23182829	23182829	G	A	exonic	SLC7A8	.	nonsynonymous SNV	SLC7A8:NM_012244:exon1:c.C86T:p.S29F	.	422	1048	49	3	0	55	0.0255695	.	.	.	702816	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.487	.	0.0028	0.0081869	0.0080	0.0003	0.0014	0	0.0006	0.0045	0.0067	0.0400	0.0070762	1094	154602	rs149980964	0.0047	0.0047	0.0036	0.0058	0.0380	0.0046	0.0046	0.0369	0.0365	0.0007	0.0019	0.0038	2.519e-05	0.0004	0.0196	0.0027	0.0050	0.0380	0.0032	0.0032	0.0028	0.0035	0.0345	0.0029	0.0028	0.0302	0.0286	0.0004	0	0.0016	0.0055	0	0.0002	0.0238	0.0035	0.0033	0.0345	0.017	0.57480	D	0.013	0.63109	D	0.832	0.46138	P	0.372	0.43610	B	0.341355	0.04190	N	1.418020	0.992952	0.41792	D	0.805	0.20218	L	-2.77	0.94729	D	-1.63	0.55181	N	0.273	0.30914	-0.1033	0.80023	T	0.687	0.89202	D	10	0.0052812696	0.00115	T	.	.	.	0.487	0.77528	.	.	0.909297500959	0.90839	0.3522502682804079	0.35139	0.297628983758	0.32147	0.453847408295	0.32470	T	0.361478	0.72755	T	-0.122026	0.32792	T	0.0805097	0.75612	D	0.0209146189981329	0.00792	T	0.665033	0.27384	T	0.2062962	0.42800	0.25939348	0.51687	0.16817287	0.37258	0.25939348	0.51686	-8.313	0.63183	D	.	.	0.099	0.35726	B	.;.;.;.	.;.;.;.	4.600120	0.72850	25.9	0.99476875340855098	0.66633	0.76768	0.37677	D	ALL	0.757503	0.69644	D	0.289633842244921	0.55621	3.726227	0.403552687569752	0.61787	4.383672	0.999999999999875	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.504199	0.09095	0	0.56751	0.32155	0	.	.	5.45	5.45	0.79688	5.488000	0.66589	11.809000	0.96880	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.0:0.0:1.0:0.0	16.771	0.85399	851	0.35303	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012085	0.005051	0.008152	0.005848	0.000000	0.008621	0.003049	0.045455	0.1429	1962.26	83	chr14	23182829	.	G	A	1962.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.059;DP=347;ExcessHet=0.3476;FS=3.299;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-0.656;SOR=0.963	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1382	5	0	2	0
chr14	23378482	23378482	G	A	exonic	CMTM5	.	nonsynonymous SNV	CMTM5:NM_001037288:exon2:c.G260A:p.R87Q,CMTM5:NM_001288746:exon2:c.G260A:p.R87Q,CMTM5:NM_138460:exon2:c.G260A:p.R87Q	.	419	1102	1	0	0	1	0.000453515	.	.	.	3305132	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.118	0.0213839303923	0.0002	.	9.061e-05	0	0.0002	0	0	0.0001	0	0	7.12e-05	11	154602	rs139744261	4.994e-05	4.994e-05	5.173e-05	4.813e-05	6.709e-05	4.059e-05	3.734e-05	1.779e-05	1.15e-05	2.987e-05	6.709e-05	0.0013	0	0	0	2.068e-05	0.0001	2.319e-05	4.602e-05	4.596e-05	5.139e-05	4.039e-05	6.547e-05	2.11e-05	1.528e-05	.	.	0	0	6.547e-05	0.0012	0	0	0	1.47e-05	0.0005	0	0.103	0.34444	T	0.128	0.92824	T	1.0	0.90584	D	0.91	0.64641	D	0.008453	0.30835	N	0.226724	1	0.81001	D	1.01	0.25309	L	1.76	0.44461	T	-1.28	0.33598	N	0.324	0.36464	-0.9039	0.47572	T	0.148	0.47362	T	10	0.038475484	0.02268	T	0.021384	0.44151	T	0.118	0.32913	.	.	0.638873723364	0.63589	0.4278030796054202	0.42697	0.182628553188	0.20529	0.374113380909	0.21419	T	0.013175	0.11445	T	-0.25075	0.14005	T	-0.422114	0.30832	T	0.231551021337509	0.22025	T	0.79842	0.45334	T	0.077549934	0.17607	0.09496661	0.22503	0.077549934	0.17607	0.09496661	0.22502	-2.709	0.38728	T	.	.	0.086	0.38587	B	.;.;.;.;.	.;.;.;.;.	3.996810	0.58859	24.0	0.99896961888383151	0.96971	0.31854	0.24441	N	AEFGBI	0.215471	0.34083	N	-0.249223380063814	0.31133	1.742782	-0.195149752338082	0.31715	1.797418	0.999874947614461	0.44625	0.549168	0.22868	0	0.59043	0.45803	0	0.590023	0.30420	0	0.542086	0.14980	0	.	.	5.94	5.05	0.67566	1.947000	0.39919	5.081000	0.47267	0.676000	0.76740	0.132000	0.23378	0.998000	0.33993	0.540000	0.29938	0.0804:0.1529:0.7667:0.0	8.576	0.32761	372	0.84213	.;.;Marvel domain|Marvel domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1534.44	34	chr14	23378482	.	G	A	1534.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.53;DP=322;ExcessHet=0;FS=3.089;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-0.299;SOR=0.981	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1160	6	0	1	0
chr14	24037766	24037766	G	A	exonic	DHRS4	.	unknown	UNKNOWN	.	416	1093	13	0	0	13	0.00591178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	.	0.0002	0.00199681	0.0005	0.0001	0.0010	0	0	0.0003	0	0.0013	0.0004981	77	154602	rs182020864	0.0004	0.0004	0.0003	0.0004	0.0064	0.0004	0.0003	0.0048	0.0042	0.0002	0.0012	3.842e-05	2.528e-05	0	0.0064	0.0002	0.0010	0.0018	0.0008	0.0008	0.0007	0.0009	0.0056	0.0007	0.0006	0.0047	0.0043	0.0001	0	0.0056	0	0	0	0.0068	0.0002	0.0028	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.013587	0.023392	0.000000	0.008621	0.000000	0.000000	0.07143	2823.44	33	chr14	24037766	.	G	A	2823.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.198;DP=398;ExcessHet=0;FS=4.788;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=1.45;SOR=0.511	GT:AD:DP:GQ:PL	0/1:92,120:212:99:2834,0,2023	6	0	1	0
chr14	24137381	24137381	C	T	exonic	PSME1	.	nonsynonymous SNV	PSME1:NM_001281528:exon4:c.C196T:p.P66S,PSME1:NM_001281529:exon4:c.C196T:p.P66S,PSME1:NM_006263:exon4:c.C196T:p.P66S,PSME1:NM_176783:exon4:c.C196T:p.P66S	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618	0.405082011431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.66	0.77858	M	-0.44	0.69777	T	-7.02	0.93786	D	0.604	0.62781	0.078	0.83776	D	0.499	0.81057	T	10	0.8613752	0.85359	D	0.405082	0.93480	D	0.618	0.85144	0.723	0.85761	0.848513814992	0.84706	0.6190026284222638	0.61833	0.898485195106	0.70554	0.64682495594	0.59534	T	0.372599	0.73675	T	0.178823	0.71935	D	0.019091	0.71571	D	0.994862377643585	0.86429	D	.	.	.	0.8021111	0.84041	0.7465579	0.85019	0.8021111	0.84043	0.7465579	0.85020	-4.803	0.35543	T	.	.	0.933	0.85316	P	.;.;.	.;.;.	4.865856	0.79668	27.2	0.99852909191406092	0.93191	0.95469	0.64845	D	AEFBHCI	0.848804	0.76562	D	0.606097762685663	0.73561	5.986048	0.487632054419544	0.67169	5.048226	0.999999999997477	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.26897	0.05253	2	0.735409	0.98432	0	.	.	4.88	4.88	0.63131	5.996000	0.70309	7.690000	0.65738	0.575000	0.29119	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.575	0.76115	894	0.26265	Proteasome activator PA28, N-terminal domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	481.46	48	chr14	24137381	.	C	T	481.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.527;DP=228;ExcessHet=0;FS=2.578;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=0.639;SOR=0.741	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1171	6	0	1	0
chr14	24148333	24148333	G	A	exonic	RNF31	.	nonsynonymous SNV	RNF31:NM_017999:exon3:c.G415A:p.E139K	.	424	1092	6	0	0	6	0.00273973	.	.	.	1157209	RNF31-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.050	0.00449333060535	0.0041	0.000599042	0.0043	0.0011	0.0017	0	0.0039	0.0066	0.0067	0.0010	0.0001537	4	26028	rs45466595	0.0051	0.0051	0.0052	0.0051	0.0060	0.0050	0.0050	0.0059	0.0059	0.0007	0.0015	0.0030	0	0.0047	0.0009	0.0060	0.0045	0.0012	0.0037	0.0037	0.0037	0.0037	0.0059	0.0034	0.0033	0.0054	0.0052	0.0008	0	0.0034	0.0035	0	0.0044	0	0.0059	0.0043	0.0017	0.77	0.05755	T	0.478	0.11968	T	0.0	0.02946	B	0.003	0.08700	B	0.169252	0.17424	N	0.600532	0.867607	0.35502	D	0.895	0.22405	L	0.97	0.42502	T	-1.16	0.29727	N	0.173	0.18512	-1.0199	0.23747	T	0.029	0.12497	T	10	0.004817933	0.00102	T	0.004493	0.11031	T	0.050	0.13987	.	.	0.646533681015	0.64360	0.26789607209610267	0.26702	0.260892133975	0.28649	0.345701277256	0.17287	T	0.092843	0.39089	T	-0.492457	0.00630	T	-0.476571	0.24812	T	0.00166204315911347	0.00017	T	.	.	.	0.25537857	0.48571	0.13638444	0.32628	0.31315637	0.54058	0.09928067	0.23697	-4.387	0.29381	T	.	.	0.079	0.07083	B	.;.	.;.	2.164669	0.27584	17.51	0.85568940474534094	0.15974	0.13964	0.18148	N	AEFDGBCI	0.089747	0.18191	N	-0.920665768487582	0.10360	0.4946604	-0.825602564307954	0.13875	0.7221413	0.999988052908587	0.51787	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.31	1.08	0.19456	-0.086000	0.11198	2.648000	0.33797	0.676000	0.76740	0.244000	0.24789	1.000000	0.68203	0.955000	0.50612	0.3582:0.2248:0.417:0.0	4.979	0.13504	894	0.26265	PUB domain;PUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	1907.49	33	chr14	24148333	.	G	A	1907.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.781;DP=300;ExcessHet=0;FS=0.699;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=-0.715;SOR=0.578	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1300	6	0	1	0
chr14	24177205	24177205	A	C	exonic	REC8	.	nonsynonymous SNV	REC8:NM_001048205:exon8:c.A689C:p.E230A,REC8:NM_005132:exon9:c.A689C:p.E230A	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00293767017641	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1004531135	0.0012	0.0012	0.0010	0.0013	0.0110	0.0011	0.0011	0.0101	0.0098	0.0012	0.0004	0.0004	0.0110	0.0002	0.0010	0.0007	0.0007	0.0044	0.0010	0.0010	0.0010	0.0010	0.0044	0.0009	0.0008	0.0030	0.0026	0.0012	0	0.0005	0.0014	0.0044	0	0	0.0007	0.0005	0.0042	.	.	.	0.058	0.46182	T	0.005	0.12996	B	0.005	0.11217	B	0.018154	0.27550	N	0.367956	0.999423	0.21215	N	.	.	.	.	.	.	.	.	.	0.39	0.43223	-1.0344	0.19046	T	0.037	0.16160	T	10	0.05203408	0.05174	T	0.002938	0.06250	T	.	.	.	.	0.043077524339	0.03247	0.420402663395183	0.41956	.	.	0.399052083492	0.24937	T	0.55507	0.85004	D	-0.0936255	0.37477	T	-0.372263	0.36624	T	0.456084311008453	0.31021	T	.	.	.	0.05018807	0.09028	0.055875212	0.09882	0.05018807	0.09028	0.055875212	0.09882	-3.867	0.21809	T	.	.	0.151	0.33800	B	.;.	.;.	3.706829	0.52895	23.3	0.98457824868193478	0.41699	0.69824	0.34342	D	AEFGBCI	0.100522	0.20211	N	-0.426166098191933	0.24556	1.326695	-0.281129554864127	0.28719	1.603506	0.999921430593149	0.46280	0.660377	0.49826	0	0.577304	0.33150	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	5.31	4.17	0.48303	4.006000	0.56798	7.003000	0.57203	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.756000	0.36000	0.9077:0.0:0.0923:0.0	7.794	0.28302	894	0.26265	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	67.44	34	chr14	24177205	.	A	C	67.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.792;DP=226;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=1.47;SOR=0.368	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1169	6	0	1	0
chr14	24181800	24181800	G	A	exonic	IPO4	.	nonsynonymous SNV	IPO4:NM_024658:exon27:c.C2851T:p.R951W	.	.	.	.	.	.	.	.	.	.	.	3680326	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.272	0.0599605330098	.	.	5.219e-05	0	8.688e-05	0.0003	0	3.075e-05	0	0	3.88e-05	6	154602	rs777523326	3.528e-05	3.899e-05	3.156e-05	3.905e-05	0.0002	2.727e-05	2.465e-05	6.541e-05	4.469e-05	3.013e-05	2.283e-05	0	0.0002	1.903e-05	0.0002	3.357e-05	3.357e-05	2.376e-05	4.596e-05	5.25e-05	2.569e-05	6.713e-05	0.0004	2.108e-05	1.526e-05	6.825e-05	2.856e-05	2.406e-05	0	0	0	0.0004	0	0	5.88e-05	0	0	0.002	0.72154	D	0.005	0.72224	D	0.998	0.73220	D	0.932	0.66722	D	0.004748	0.33426	N	0.292719	0.926933	0.36849	D	2.455	0.71248	M	-0.25	0.67011	T	-4.26	0.76174	D	0.498	0.53093	-0.4327	0.70978	T	0.332	0.69943	T	10	0.32421717	0.49748	T	0.059961	0.67842	D	0.272	0.58758	.	.	0.742561799122	0.74024	0.35101117814146837	0.35015	0.807964130137	0.66590	0.617939114571	0.55438	T	0.520101	0.83201	D	-0.233743	0.16157	T	-0.217154	0.53010	T	0.449708327779033	0.30787	T	.	.	.	0.24981995	0.47980	0.3037639	0.56406	0.24981995	0.47980	0.3037639	0.56405	-7.491	0.57547	T	.	.	0.129	0.27732	B	.	.	4.138977	0.61994	24.4	0.9991209727406466	0.98095	0.41545	0.26681	N	AEFDGBCI	0.235785	0.35833	N	0.122321540928083	0.47505	2.975341	0.0302437626235402	0.41127	2.465639	0.999937716341792	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.97	0.372	0.15405	0.968000	0.28955	5.290000	0.48206	0.676000	0.76740	0.616000	0.27880	1.000000	0.68203	0.985000	0.61073	0.0:0.1286:0.3159:0.5555	9.482	0.38071	894	0.26265	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1638.44	36	chr14	24181800	.	G	A	1638.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.232;DP=307;ExcessHet=0;FS=10.124;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=0.825;SOR=0.663	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr14	24193097	24193097	C	T	exonic	TM9SF1	.	nonsynonymous SNV	TM9SF1:NM_001014842:exon3:c.G518A:p.R173Q,TM9SF1:NM_001289006:exon3:c.G257A:p.R86Q,TM9SF1:NM_006405:exon3:c.G518A:p.R173Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00935311641381	7.7e-05	0.000199681	6.59e-05	0	0	0	0	8.99e-05	0	0.0001	7.76e-05	12	154602	rs375509793	0.0001	0.0001	0.0001	0.0001	0.0007	9.603e-05	9.082e-05	0.0002	0.0001	0	8.944e-05	0	5.038e-05	0	0.0007	0.0001	6.623e-05	9.275e-05	4.597e-05	4.594e-05	5.141e-05	4.029e-05	0.0002	2.108e-05	1.526e-05	2.847e-05	1.859e-05	0	0	0	0	0	0	0	7.352e-05	0.0005	0.0002	0.424	0.24468	T	0.431	0.14034	T	0.43	0.35583	B	0.148	0.34065	B	0.013398	0.28856	N	0.331355	0.809482	0.36263	D	1.12	0.28775	L	0.7	0.51474	T	-1.33	0.33197	N	0.151	0.30687	-0.9798	0.35048	T	0.081	0.32031	T	10	0.100753486	0.18367	T	0.009353	0.24530	T	0.076	0.22200	.	.	0.67788755631	0.67515	0.6295273893894675	0.62886	0.563462233489	0.52778	0.449931025505	0.31934	T	0.016978	0.13935	T	-0.29834	0.08817	T	-0.440619	0.28738	T	0.0426172491558272	0.04167	T	.	.	.	0.07924449	0.18093	0.062037606	0.12076	0.07924449	0.18093	0.062037606	0.12075	-3.325	0.14061	T	.	.	0.070	0.09772	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.974127	0.39654	21.0	0.99027298477869319	0.50721	0.74818	0.36610	D	AEFBI	0.231161	0.35443	N	-0.00903836108567954	0.41446	2.47915	0.0964485671134915	0.44371	2.720037	0.999989057268445	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.1	4.11	0.47350	1.339000	0.33489	3.310000	0.37456	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.999000	0.91618	0.0:0.902:0.0:0.098	11.023	0.46944	895	0.25842	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.000000	0.07143	2316.44	35	chr14	24193097	.	C	T	2316.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.79;DP=397;ExcessHet=0;FS=3.185;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.241;SOR=0.511	GT:AD:DP:GQ:PL	0/1:113,90:203:99:2327,0,2728	6	0	1	0
chr14	24300433	24300433	G	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.G273C:p.K91N,NOP9:NM_174913:exon2:c.G273C:p.K91N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.00580395549189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.58e-05	0.0007	1.504e-05	1.656e-05	5.994e-05	1.052e-05	8.79e-06	1.219e-05	1.035e-05	5.994e-05	0	0	0	0	0	1.897e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.24857	T	0.136	0.34009	T	0.969	0.56768	D	0.821	0.59116	P	0.002487	0.36462	N	0.265343	0.610881	0.32620	D	2.4	0.69460	M	2.46	0.14907	T	-0.64	0.18670	N	0.442	0.50146	-1.0133	0.25880	T	0.056	0.23677	T	10	0.25542066	0.42934	T	0.005804	0.15072	T	0.091	0.26358	0.435	0.48664	0.390687800842	0.38684	0.2418240473274099	0.24096	0.668619433952	0.59308	0.650323867798	0.60032	T	0.033914	0.23108	T	-0.195226	0.21496	T	-0.518205	0.20478	T	0.756082832813263	0.43628	D	.	.	.	0.10372222	0.24517	0.11207933	0.27041	0.10372222	0.24517	0.11207933	0.27040	-5.696	0.46679	T	.	.	0.479	0.67462	A	.;.	.;.	2.802256	0.36869	20.4	0.99664447895021979	0.78138	0.59022	0.30801	D	AEFDGBHCI	0.149870	0.27405	N	0.199911004870865	0.51195	3.302748	0.143387463339738	0.46792	2.919509	0.999988200241143	0.51787	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.05	1.24	0.20416	0.649000	0.24529	2.961000	0.35756	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.4088:0.1462:0.445:0.0	4.937	0.13295	867	0.32089	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	85.45	36	chr14	24300433	.	G	C	85.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.73;DP=324;ExcessHet=0;FS=77.931;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=1.25;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,105,1524:.	6	0	1	0
chr14	24300434	24300434	G	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.G274C:p.E92Q,NOP9:NM_174913:exon2:c.G274C:p.E92Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.0124761507471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.058e-06	0.0003	1.365e-06	2.757e-06	2.707e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	0.15149	T	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999992	0.58761	D	2.585	0.75554	M	2.44	0.15145	T	0.34	0.04533	N	0.645	0.70439	-1.1301	0.01777	T	0.078	0.31193	T	10	0.8152855	0.80773	D	0.012476	0.31090	T	0.229	0.52916	0.751	0.88155	0.508755544265	0.50514	0.5357599337425957	0.53500	0.807762257892	0.66579	0.542344510555	0.44777	T	0.047029	0.27602	T	-0.0927803	0.37617	T	-0.371049	0.36766	T	0.948966205120087	0.63009	D	.	.	.	0.4762171	0.65670	0.2750293	0.53436	0.4762171	0.65670	0.2750293	0.53435	-5.321	0.40150	T	.	.	0.675	0.71957	P	.;.	.;.	4.899164	0.80508	27.3	0.9963079446719727	0.76020	0.87812	0.47481	D	AEFDGBHCI	0.550752	0.56310	D	0.586330320866806	0.72322	5.787323	0.606648110977027	0.75423	6.307655	0.999999999957369	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.05	5.05	0.67566	5.311000	0.65574	11.771000	0.95863	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.340	0.87180	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	70.45	36	chr14	24300434	.	G	C	70.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.362;DP=341;ExcessHet=0;FS=78.999;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=1.37;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,105,1524:.	6	0	1	0
chr14	24300437	24300437	G	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.G277C:p.V93L,NOP9:NM_174913:exon2:c.G277C:p.V93L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00576105487957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0050	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0.0002	2.243e-05	0.0001	0	0	0.0002	0.0004	0.0003	7.042e-05	1.319e-05	5.919e-05	1.29e-05	1.35e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.474e-05	0	0.0002	0.197	0.23183	T	0.214	0.26386	T	0.008	0.14655	B	0.009	0.14300	B	0.000069	0.52346	D	0.072968	0.996321	0.43140	D	2.585	0.75554	M	2.67	0.12473	T	-0.93	0.24898	N	0.223	0.25006	-1.0617	0.11336	T	0.026	0.11220	T	10	0.2473082	0.42010	T	0.005761	0.14952	T	0.054	0.15330	0.682	0.81982	0.280181792013	0.27631	0.43155452972977676	0.43072	0.241845707043	0.26701	0.518697142601	0.41442	T	0.026513	0.19606	T	-0.1628	0.26331	T	-0.471627	0.25341	T	0.867119252681732	0.51714	D	.	.	.	0.2700367	0.50075	0.25238276	0.50866	0.2700367	0.50075	0.25238276	0.50865	-4.398	0.29530	T	.	.	0.406	0.62127	A	.;.	.;.	3.392337	0.46977	22.4	0.98957409412611974	0.49266	0.70411	0.34579	D	AEFDGBHCI	0.404589	0.47781	N	-0.158710929101413	0.34866	1.995547	0.0346132377272474	0.41334	2.481569	0.99999908900984	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.05	4.09	0.47038	3.594000	0.53755	8.281000	0.76903	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8459:0.1541	14.766	0.69261	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	491.91	45	chr14	24300437	.	G	C	491.91	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-3.856;DP=547;ExcessHet=0.3476;FS=538.551;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=2.72;ReadPosRankSum=0.972;SOR=8.813	GT:AD:DP:GQ:PL	0/0:111,28:139:14:0,14,2670	3	0	2	2
chr14	24300438	24300438	T	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.T278C:p.V93A,NOP9:NM_174913:exon2:c.T278C:p.V93A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00437975501723	.	.	8.732e-06	0	0	0	0	1.593e-05	0	0	6.5e-06	1	154602	rs776509560	6.857e-07	0.0001	1.365e-06	0	9.017e-07	0	0	.	.	0	0	0	0	0	0	9.017e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.61437	D	0.021	0.58089	D	0.004	0.12183	B	0.009	0.14300	B	0.000069	0.52346	D	0.072968	0.996815	0.43435	D	2.585	0.75554	M	2.58	0.13434	T	-1.91	0.44471	N	0.158	0.22228	-1.0562	0.12724	T	0.025	0.10821	T	10	0.1992108	0.35922	T	0.00438	0.10687	T	0.058	0.16647	0.699	0.83592	0.202086224978	0.19791	0.4326649708647601	0.43183	0.293728836784	0.31792	0.537159740925	0.44045	T	0.043603	0.26553	T	-0.169471	0.25316	T	-0.48121	0.24317	T	0.535576939582825	0.33940	D	.	.	.	0.17249486	0.37943	0.22838518	0.47878	0.17249486	0.37943	0.22838518	0.47877	-3.105	0.11353	T	.	.	0.166	0.36535	B	.;.	.;.	2.098732	0.26700	17.21	0.99590042639475562	0.73572	0.51292	0.28862	D	AEFDGBHCI	0.087342	0.17709	N	-0.367403661139306	0.26638	1.455306	-0.204757657677304	0.31364	1.774356	0.999998714659871	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.05	3.91	0.44383	0.695000	0.25205	1.170000	0.24618	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.1703:0.0:0.8297	7.771	0.28173	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	49.45	69	chr14	24300438	.	T	C	49.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.168;DP=639;ExcessHet=0;FS=74.591;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=1.52;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:143,0:143:99:.:.:0,120,1800:.	6	0	1	0
chr14	24300440	24300440	G	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.G280C:p.E94Q,NOP9:NM_174913:exon2:c.G280C:p.E94Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00412363107028	.	.	.	.	.	.	.	.	.	.	.	.	.	rs185864031	6.843e-07	2.052e-05	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.24564	T	0.455	0.12776	T	0.188	0.29318	B	0.093	0.30104	B	0.000313	0.45977	D	0.187178	0.571431	0.32297	D	1.85	0.49092	L	2.51	0.14284	T	-0.66	0.19085	N	0.191	0.38438	-1.0353	0.18762	T	0.023	0.09696	T	10	0.1599716	0.30043	T	0.004124	0.09869	T	0.033	0.08068	0.499	0.58991	0.322230723748	0.31824	0.255152260406516	0.25429	0.330304757815	0.35118	0.574976623058	0.49380	T	0.019978	0.15815	T	-0.182995	0.23292	T	-0.500636	0.22282	T	0.675508379936218	0.39584	D	.	.	.	0.17322882	0.38059	0.08973655	0.21001	0.17322882	0.38059	0.08973655	0.21001	-2.426	0.06466	T	.	.	0.139	0.31431	B	.;.	.;.	3.056306	0.41027	21.3	0.95279133588078557	0.26571	0.70917	0.34791	D	AEFDGBHCI	0.245835	0.36670	N	-0.200592476270587	0.33109	1.874788	-0.0452276382921033	0.37696	2.210766	0.999999415166122	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.05	4.16	0.48138	2.675000	0.46541	9.863000	0.82071	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0853:0.159:0.7557:0.0	8.177	0.30448	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	46.45	69	chr14	24300440	.	G	C	46.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.401;DP=640;ExcessHet=0;FS=75.114;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.33;ReadPosRankSum=1.75;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:143,0:143:99:.:.:0,120,1800:.	6	0	1	0
chr14	24300442	24300442	G	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.G282C:p.E94D,NOP9:NM_174913:exon2:c.G282C:p.E94D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00531892314922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48186	D	0.081	0.41742	T	0.72	0.42342	P	0.35	0.42815	B	0.000313	0.45977	D	0.187178	0.900972	0.27701	N	2.4	0.69460	M	2.49	0.14531	T	-1.42	0.34992	N	0.329	0.36989	-1.0563	0.12698	T	0.030	0.13067	T	10	0.18962675	0.34571	T	0.005319	0.13618	T	0.053	0.14996	0.527	0.63263	0.337135696972	0.33324	0.2960366301804945	0.29516	0.341977784689	0.36137	0.58951985836	0.51426	T	0.041301	0.25814	T	-0.20581	0.19972	T	-0.533408	0.18948	T	0.897427260875702	0.54933	D	.	.	.	0.16601901	0.36911	0.17192636	0.39411	0.16601901	0.36910	0.17192636	0.39411	-4.434	0.32769	T	.	.	0.397	0.60210	A	.;.	.;.	1.825097	0.23188	15.92	0.99724221531387924	0.82266	0.20248	0.20970	N	AEFDGBHCI	0.087307	0.17703	N	-0.25025929868107	0.31092	1.740072	-0.271232583932466	0.29050	1.624519	0.999993027687183	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.05	2.24	0.27264	0.049000	0.13983	1.689000	0.28059	0.676000	0.76740	0.042000	0.21073	0.930000	0.28522	0.982000	0.59238	0.3297:0.0:0.6703:0.0	8.322	0.31295	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	46.46	69	chr14	24300442	.	G	C	46.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.136;DP=641;ExcessHet=0;FS=75.114;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.33;ReadPosRankSum=1.86;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:143,0:143:99:.:.:0,120,1800:.	6	0	1	0
chr14	24336257	24336257	G	-	exonic	RIPK3	.	frameshift deletion	RIPK3:NM_006871:exon10:c.1475delC:p.P492Hfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1261143835	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1061.18	71	chr14	24336256	.	TG	T	1061.18	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.276;DP=254;ExcessHet=0.3476;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=0;SOR=0.616	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1151	6	0	1	0
chr14	24336256	24336256	-	G	exonic	RIPK3	.	frameshift insertion	RIPK3:NM_006871:exon10:c.1475dupC:p.P493Tfs*9	.	420	1078	22	2	0	26	0.0119157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.00239617	0.0025	0.0009	0.0032	0	0.0009	0.0034	0.0033	0.0013	0.0008452	22	26028	rs531266348	0.0037	0.0037	0.0038	0.0036	0.0071	0.0036	0.0036	0.0054	0.0048	0.0011	0.0032	0.0041	0	0.0007	0.0071	0.0042	0.0043	0.0011	0.0031	0.0031	0.0033	0.0028	0.0062	0.0028	0.0027	0.0052	0.0048	0.0011	0.0044	0.0062	0.0026	0	0.0007	0.0102	0.0042	0.0047	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009063	0.005051	0.006793	0.026316	0.000000	0.000000	0.009146	0.007576	0.07143	1061.18	71	chr14	24336256	.	T	TG	1061.18	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.276;DP=254;ExcessHet=0.3476;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=0;SOR=0.616	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1151	6	0	1	0
chr14	24336257	24336257	G	0	exonic	RIPK3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2686.64	35	chr14	24336257	.	G	*	2686.64	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.52;DP=389;ExcessHet=1.1394;FS=1.544;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-0.031;SOR=0.732	GT:AD:DP:GQ:PL	0/0:62,0:134:99:1833,2019,3706	6	0	1	0
chr14	24414693	24414693	C	A	exonic	NYNRIN	.	nonsynonymous SNV	NYNRIN:NM_025081:exon9:c.C2944A:p.P982T	.	415	1085	22	0	0	22	0.0100365	.	.	.	2810324	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.105	0.0102701104823	0.0013	0.000998403	0.0012	0.0006	0.0022	0	0	0.0016	0.0011	0.0003	0.0010802	167	154602	rs181160538	0.0009	0.0009	0.0009	0.0010	0.0078	0.0009	0.0009	0.0060	0.0054	0.0009	0.0021	0.0106	0	1.874e-05	0.0078	0.0007	0.0022	0.0003	0.0012	0.0012	0.0012	0.0012	0.0036	0.0010	0.0010	0.0028	0.0026	0.0004	0	0.0036	0.0112	0	0	0.0306	0.0008	0.0033	0.0004	0.043	0.41364	D	0.004	0.74150	D	0.952	0.54136	P	0.42	0.45080	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	2.72	0.11947	T	-2.18	0.49187	N	0.103	0.08646	-1.0676	0.09948	T	0.038	0.16290	T	9	0.0054706335	0.00121	T	0.01027	0.26610	T	0.105	0.29889	.	.	0.241664281697	0.23763	0.5110794306933167	0.51029	0.226695250779	0.25215	0.28573769331	0.08304	T	0.033286	0.22852	T	-0.584824	0.00180	T	-0.61962	0.11214	T	0.0159022332931623	0.00375	T	0.465053	0.13602	T	0.039496146	0.05463	0.05341085	0.08989	0.039496146	0.05462	0.05341085	0.08989	-3.601	0.17871	T	.	.	0.078	0.06710	B	.	.	1.317899	0.17215	13.03	0.99028392147768396	0.50742	0.16373	0.19358	N	AEFBI	0.050674	0.08881	N	-0.512461320319969	0.21676	1.15211	-0.642215251805691	0.18413	0.9835417	0.97865038151807	0.29945	0.706548	0.73137	0	0.627178	0.54094	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.54	3.66	0.41111	0.795000	0.26632	0.199000	0.15831	-0.953000	0.02023	0.009000	0.18154	0.000000	0.08366	0.004000	0.06068	0.2025:0.7975:0.0:0.0	9.964	0.40885	814	0.42100	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.030303	0.019022	0.017544	0.000000	0.008621	0.006098	0.000000	0.07143	467.63	52	chr14	24414693	.	C	A	467.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.656;DP=254;ExcessHet=0;FS=1.09;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=1.26;SOR=0.634	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1620	6	0	1	0
chr14	28767485	28767485	-	GCA	exonic	FOXG1	.	nonframeshift insertion	FOXG1:NM_005249:exon1:c.206_207insGCA:p.Q73_P74insQ	Rett syndrome, congenital variant, Isolated cases	438	1078	6	0	0	6	0.00277521	.	.	.	101164	FOXG1_disorder|FOXG1-related_disorder|not_specified|not_provided|Inborn_genetic_diseases|Rett_syndrome,_congenital_variant	MONDO:MONDO:0100040,MedGen:CN297063|.|MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:C3150705,OMIM:613454,Orphanet:3095	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0	0	0.0002	1.29e-05	2	154602	rs1325616455	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0004	0.0002	5.479e-05	5.978e-05	0.0012	8.842e-05	0	0.0014	0.0002	0.0002	8.99e-05	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0	6.86e-05	0.0027	0.0002	0	0	0.0003	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	844.59	43	chr14	28767485	.	C	CGCA	844.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.43;DP=249;ExcessHet=0;FS=9.313;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.36;ReadPosRankSum=-0.486;SOR=2.584	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1510	6	0	1	0
chr14	31383720	31383720	C	T	exonic	HEATR5A	.	nonsynonymous SNV	HEATR5A:NM_015473:exon10:c.G1397A:p.R466Q	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0255051627752	0.0002	.	0.0002	0	0	0.0001	0	0.0004	0	6.081e-05	0.0002005	31	154602	rs200562122	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	6.699e-05	6.199e-05	5.976e-05	0.0001	0.0056	0	0	0.0003	8.096e-05	0.0004	1.16e-05	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	6.805e-05	5.088e-05	2.417e-05	0	0	0.0040	0	0	0	0.0001	0.0010	0	0.004	0.65419	D	0.004	0.74150	D	.	.	.	.	.	.	0.000306	0.45977	D	0.145416	0.99996	0.54805	D	.	.	.	-0.58	0.71425	T	-3.67	0.70191	D	0.603	0.62103	-0.4130	0.71614	T	0.312	0.68201	T	10	0.03275937	0.01435	T	0.025505	0.48476	D	0.418	0.72780	.	.	0.347879110917	0.34393	0.625744045549294	0.62507	.	.	0.414210617542	0.27039	T	0.216475	0.57865	T	-0.159661	0.26813	T	-0.207439	0.53940	T	0.141028157155284	0.16364	T	0.908809	0.67676	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.14339	B	.	.	3.833575	0.55424	23.6	0.99926344646311405	0.99103	0.96348	0.68700	D	AEFDGBI	0.546593	0.56063	D	0.307317403500979	0.56523	3.817194	0.384269930001865	0.60594	4.248785	0.999999993314113	0.74766	0.706298	0.61202	0	0.546412	0.12157	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	4.094000	0.57448	0.809000	0.21733	0.599000	0.40250	0.999000	0.42656	0.490000	0.25148	0.825000	0.38878	0.0:0.9275:0.0:0.0725	13.898	0.63288	447	0.79583	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	310.27	42	chr14	31383720	.	C	T	310.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.809;DP=212;ExcessHet=0;FS=1.505;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.39;ReadPosRankSum=2.12;SOR=0.37	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1137	5	0	1	1
chr14	35266854	35266854	G	A	exonic	PRORP	.	nonsynonymous SNV	PRORP:NM_001256681:exon4:c.G287A:p.S96N,PRORP:NM_001256678:exon5:c.G1355A:p.S452N,PRORP:NM_001256680:exon5:c.G287A:p.S96N,PRORP:NM_001256679:exon6:c.G1118A:p.S373N,PRORP:NM_014672:exon6:c.G1403A:p.S468N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00897788840165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	0.10553	T	0.326	0.19660	T	0.118	0.30426	B	0.055	0.28435	B	0.175795	0.17242	N	0.626027	0.99757	0.23867	N	.	.	.	0.89	0.46412	T	-0.38	0.13418	N	0.115	0.13055	-1.0631	0.10997	T	0.067	0.27640	T	10	0.15748596	0.29636	T	0.008978	0.23655	T	0.080	0.23350	0.444	0.50139	0.444102476654	0.44032	0.2676080784523715	0.26673	0.172905930735	0.19474	0.250805079937	0.03853	T	0.001427	0.11608	T	-0.300155	0.08646	T	-0.668929	0.07678	T	0.1956597417593	0.20173	T	0.573243	0.20534	T	0.17189379	0.37850	0.17146575	0.39331	0.17189379	0.37849	0.17146575	0.39330	-3.551	0.20268	T	0.11819742244685068	0.10880	0.139	0.30344	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.891646	0.24027	16.24	0.97124348369513969	0.32469	0.59726	0.30995	D	AEFBI	0.163347	0.28963	N	-0.243787956237347	0.31352	1.757093	-0.133540156514549	0.34048	1.954219	0.00290720530677382	0.09788	0.706298	0.61202	0	0.724815	0.89359	0	0.644132	0.48003	0	0.613276	0.41899	0	.	.	5.52	1.1	0.19578	2.614000	0.46024	1.423000	0.26381	0.676000	0.76740	1.000000	0.71638	0.001000	0.17328	0.983000	0.59808	0.4353:0.1907:0.374:0.0	3.647	0.07728	432	0.80690	.;.;.;Protein-only RNase P, C-terminal;.;.;Protein-only RNase P, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1192.46	33	chr14	35266854	.	G	A	1192.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.377;DP=287;ExcessHet=0;FS=0.811;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=0.245;SOR=0.852	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1193	6	0	1	0
chr14	36676444	36676444	G	A	exonic	PAX9	.	nonsynonymous SNV	PAX9:NM_001372076:exon4:c.G1018A:p.A340T,PAX9:NM_006194:exon5:c.G1018A:p.A340T	Tooth agenesis, selective, 3, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.390	0.0710969082207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	2.725e-06	0	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.02	0.58613	D	0.251	0.31212	B	0.01	0.14941	B	0.005833	0.32475	N	0.347897	0.979336	0.39551	D	1.735	0.44892	L	-5.33	0.98998	D	-0.39	0.13611	N	0.131	0.12627	0.892	0.95569	D	0.921	0.97389	D	10	0.19645229	0.35537	T	0.071097	0.71180	D	0.390	0.70603	0.131	0.03577	0.941386099767	0.94078	0.312312602041644	0.31144	0.301522529725	0.32488	0.617408692837	0.55362	T	0.207539	0.56721	T	0.161903	0.70377	D	-0.00521434	0.69997	D	0.846450328826904	0.49862	D	0.877312	0.59062	D	0.13061231	0.30472	0.16402745	0.38019	0.13061231	0.30471	0.16402745	0.38018	-5.833	0.44861	T	.	.	0.120	0.27583	B	.;.	.;.	3.413460	0.47364	22.4	0.99874552318627119	0.95160	0.97405	0.74540	D	AEFDBHI	.	.	.	0.158514482019403	0.49215	3.124469	0.290451553820386	0.54982	3.661706	0.999999998859051	0.74766	0.549168	0.22868	0	0.573888	0.26702	0	0.378051	0.06126	2	0.616125	0.45549	0	.	.	6.16	6.16	0.99302	5.776000	0.68576	11.895000	0.99196	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.036000	0.13842	0.0:0.0:1.0:0.0	19.040	0.92976	887	0.27948	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1282.63	34	chr14	36676444	.	G	A	1282.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.58;DP=280;ExcessHet=0;FS=1.629;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-1.341;SOR=0.881	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr14	37622197	37622197	G	T	exonic	TTC6	.	nonsynonymous SNV	TTC6:NM_001310135:exon3:c.G181T:p.A61S	.	404	1117	1	0	0	1	0.000447427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0191883363531	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1039877359	2.168e-06	3.42e-06	1.427e-06	2.929e-06	1.854e-06	5.8e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.854e-06	1.728e-05	0	1.317e-05	1.314e-05	0	2.697e-05	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.259	0.16628	T	0.127	0.35082	T	.	.	.	.	.	.	0.197196	0.03293	N	1.664870	.	.	.	.	.	.	-0.51	0.70597	T	-0.66	0.19085	N	0.073	0.04668	-0.9962	0.30974	T	0.127	0.43277	T	6	0.050727874	0.04849	T	0.019188	0.41484	T	0.097	0.27909	0.116	0.02439	0.165133752707	0.16062	.	.	0.0300148458776	0.03093	.	.	.	0.011356	0.10143	T	-0.280552	0.10609	T	-0.64077	0.09612	T	0.347872793674469	0.26935	T	0.435856	0.11948	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13032	B	.	.	-0.229233	0.02944	0.433	0.7831841981194031	0.12249	0.06055	0.12025	N	AEFBHCI	0.093065	0.18834	N	-1.36994175447178	0.02923	0.1298262	-1.53197968679572	0.02102	0.09619549	0.999999931138832	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.8	-6.71	0.01597	-1.137000	0.03330	-1.471000	0.05364	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.197000	0.21808	0.5111:0.2169:0.272:0.0	7.085	0.24433	682	0.59757	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	635.53	63	chr14	37622197	.	G	T	635.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.12;DP=240;ExcessHet=0;FS=3.468;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=0.347;SOR=0.775	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1038	6	0	1	0
chr14	37749377	37749385	GAGTGCCAT	-	exonic	TTC6	.	nonframeshift deletion	TTC6:NM_001310135:exon13:c.2850_2858del:p.S951_M953del	.	437	1084	0	1	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0	0	0.0007	3.84e-05	1	26028	rs774394046	2.451e-05	2.805e-05	1.045e-05	3.933e-05	0.0005	1.774e-05	1.518e-05	0.0003	0.0003	0	0	0	0	0	0	0	3.673e-05	0.0005	1.969e-05	1.968e-05	0	4.028e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	887.5	13	chr14	37749376	.	AGAGTGCCAT	A	887.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.204;DP=155;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=24.65;ReadPosRankSum=0.285;SOR=0.593	GT:AD:DP:GQ:PL	0/0:24,0:24:69:0,69,1035	6	0	1	0
chr14	37751121	37751121	A	T	exonic	TTC6	.	nonsynonymous SNV	TTC6:NM_001310135:exon15:c.A3073T:p.T1025S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.0281361990305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.21968	T	0.687	0.05976	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.91	0.75001	T	-1.17	0.29933	N	0.173	0.18512	-0.4105	0.71695	T	0.349	0.71297	T	4	0.16270098	0.30486	T	0.028136	0.50858	D	0.114	0.32008	0.421	0.46365	0.590905048371	0.58767	.	.	0.0355094227063	0.03747	.	.	.	0.258043	0.62915	T	-0.234259	0.16089	T	-0.574273	0.15060	T	0.0624919423987661	0.07556	T	0.307969	0.05936	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.19032	B	.	.	0.716645	0.10854	7.533	0.55909328095496025	0.05441	0.89273	0.49638	D	AEFI	0.209269	0.33527	N	-0.388922304247176	0.25863	1.407116	-0.413188142783978	0.24610	1.348583	2.33496156239582E-4	0.06095	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.58	1.7	0.23359	3.299000	0.51533	1.308000	0.25520	-0.227000	0.07798	0.896000	0.31333	0.000000	0.08366	0.931000	0.46843	0.6345:0.0:0.0:0.3655	10.470	0.43817	610	0.67008	Tetratricopeptide repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	944.44	33	chr14	37751121	.	A	T	944.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.983;DP=271;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=-0.146;SOR=0.622	GT:AD:DP:GQ:PL	0/1:53,42:95:99:955,0,1225	6	0	1	0
chr14	41891551	41891551	G	A	exonic	LRFN5	.	nonsynonymous SNV	LRFN5:NM_001346173:exon3:c.G1687A:p.V563I,LRFN5:NM_152447:exon4:c.G1687A:p.V563I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00523217608259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	4.084e-06	2.75e-06	2.698e-06	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	1.872e-05	0	2.698e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	0.15458	T	0.346	0.17696	T	0.001	0.07471	B	0.004	0.10090	B	0.003993	0.34245	N	0.129837	1	0.81001	D	-0.55	0.02420	N	0.91	0.44856	T	-0.38	0.13418	N	0.064	0.03613	-1.0743	0.08493	T	0.047	0.20195	T	10	0.11105439	0.20781	T	0.005232	0.13341	T	0.071	0.20720	0.193	0.10437	0.260580752073	0.25663	0.17945353120033047	0.17864	0.346885249969	0.36588	0.554497003555	0.46490	T	0.025479	0.19042	T	-0.182266	0.23400	T	-0.499589	0.22390	T	0.551404297351837	0.34530	D	0.762524	0.38803	T	0.092864394	0.21795	0.075109445	0.16502	0.092864394	0.21795	0.075109445	0.16502	-3.82	0.21104	T	.	.	0.079	0.07318	B	.	.	3.076023	0.41366	21.3	0.86327499591242463	0.16462	0.96237	0.68167	D	AEFI	0.635723	0.61513	D	-0.525394753922222	0.21262	1.127041	-0.255780771718748	0.29572	1.657897	0.0824867274751843	0.15902	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.75	4.86	0.62624	3.835000	0.55508	8.724000	0.78169	-0.148000	0.12190	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8476:0.1524	14.017	0.64048	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1632.44	121	chr14	41891551	.	G	A	1632.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.731;DP=320;ExcessHet=0;FS=0.676;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=0.812;SOR=0.597	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	6	0	1	0
chr14	44504921	44504956	CTCCTCAGCTGGTAGAGACTGAACTTCAGCAGGGGC	-	exonic	FSCB	.	nonframeshift deletion	FSCB:NM_032135:exon1:c.2032_2067del:p.A678_E689del	.	.	.	.	.	.	.	.	.	.	.	702872	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0205	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs866319674	0.0003	0.0004	0.0004	0.0003	0.0106	0.0003	0.0003	0.0097	0.0093	0.0106	0.0010	0	0	0	0.0013	2.068e-05	0.0007	2.32e-05	0.0061	0.0082	0.0063	0.0059	0.0215	0.0058	0.0056	0.0203	0.0198	0.0215	0	0.0020	0	0	0	0.0103	8.844e-05	0.0048	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	460.42	33	chr14	44504920	.	TCTCCTCAGCTGGTAGAGACTGAACTTCAGCAGGGGC	T	460.42	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.581;DP=273;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.88;MQRankSum=-0.552;QD=19.18;ReadPosRankSum=0.431;SOR=1.022	GT:AD:DP:GQ:PL	0/0:75,0:75:99:0,120,1800	6	0	1	0
chr14	44505886	44505886	G	C	exonic	FSCB	.	nonsynonymous SNV	FSCB:NM_032135:exon1:c.C1102G:p.L368V	.	426	1091	4	0	1	5	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00247035547921	0.0008	.	0.0011	0.0001	0.0003	0	0.0005	0.0018	0	0.0002	0.0010802	167	154602	rs143087159	0.0016	0.0016	0.0016	0.0016	0.0019	0.0015	0.0015	0.0019	0.0018	0.0003	0.0004	0	0	0.0013	0.0005	0.0019	0.0012	0.0003	0.0009	0.0009	0.0010	0.0009	0.0015	0.0008	0.0007	0.0013	0.0012	0.0004	0	0.0006	0	0	0.0006	0	0.0015	0.0005	0.0004	0.087	0.32453	T	0.506	0.10967	T	0.612	0.39723	P	0.128	0.32786	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	2.64	0.12780	T	-0.12	0.08809	N	0.057	0.02861	-1.0238	0.22476	T	0.016	0.06664	T	9	0.010329932	0.00230	T	0.00247	0.04896	T	0.019	0.03383	.	.	0.0611884634855	0.05136	0.028769811733158224	0.02826	0.0258931976221	0.02646	0.232557028532	0.02163	T	0.002343	0.01739	T	-0.680186	0.00048	T	-0.756293	0.03247	T	0.00563874128254933	0.00062	T	0.234177	0.03217	T	0.03601719	0.04350	0.0362251	0.03027	0.03601719	0.04350	0.0362251	0.03027	-7.27	0.55982	T	.	.	0.113	0.22464	B	.	.	0.737655	0.11067	7.721	0.78255476849396854	0.12222	0.08083	0.14055	N	AEFDHCI	0.062111	0.11920	N	-1.26468519479613	0.04109	0.1848205	-1.43899515310588	0.02871	0.1328791	0.67203018515458	0.22385	0.55562	0.30534	0	0.573888	0.26702	0	0.68496	0.61776	0	0.564101	0.26826	0	.	.	4.99	-7.66	0.01137	-0.195000	0.09546	0.271000	0.16657	-0.285000	0.06363	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0881:0.4658:0.1321:0.314	4.667	0.12053	948	0.11499	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1112.63	43	chr14	44505886	.	G	C	1112.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.358;DP=329;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=0.543;SOR=0.636	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	6	0	1	0
chr14	44903212	44903212	C	T	exonic	C14orf28	.	nonsynonymous SNV	C14orf28:NM_001017923:exon3:c.C530T:p.P177L	.	.	.	.	.	.	.	.	.	.	.	739212	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.357	.	0.0039	0.00379393	0.0013	0.0144	0.0006	0	0	0	0.0011	0.0002	0.001229	190	154602	rs115254671	0.0004	0.0004	0.0005	0.0004	0.0155	0.0004	0.0004	0.0144	0.0139	0.0155	0.0007	0	0	0	0.0007	1.808e-06	0.0010	9.296e-05	0.0042	0.0042	0.0041	0.0043	0.0151	0.0039	0.0038	0.0141	0.0137	0.0151	0	0.0005	0	0	0	0	1.471e-05	0.0019	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.975	0.24501	L	1.0	0.41392	T	-6.67	0.92346	D	0.768	0.76573	-0.8795	0.49801	T	0.092	0.35038	T	10	0.0099155605	0.00222	T	.	.	.	0.357	0.67782	.	.	0.531873083431	0.52836	0.6841961515301836	0.68358	0.304225670694	0.32734	.	.	.	0.140449	0.47500	T	-0.421794	0.01666	T	-0.365681	0.37394	T	0.0539404993852956	0.06179	T	0.918208	0.70605	D	0.69255346	0.77650	0.68390566	0.81417	0.69255346	0.77651	0.68390566	0.81418	-1.656	0.02117	T	.	.	0.153	0.33800	B	.	.	4.492572	0.70188	25.5	0.99556377538141794	0.71459	0.95863	0.66478	D	AEFBI	0.635120	0.61474	D	0.624555719015772	0.74732	6.182742	0.667065873920911	0.79886	7.178378	0.999998257365915	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.68	5.68	0.88021	5.985000	0.70235	7.681000	0.65292	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0:1.0:0.0:0.0	17.285	0.87026	843	0.36859	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	270.27	35	chr14	44903212	.	C	T	270.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.237;DP=196;ExcessHet=0;FS=1.446;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=-0.2;SOR=1.179	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1047	5	0	1	1
chr14	44934542	44934542	G	A	exonic	KLHL28	.	nonsynonymous SNV	KLHL28:NM_001308112:exon3:c.C958T:p.P320S,KLHL28:NM_017658:exon3:c.C916T:p.P306S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.514	0.0420949397803	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224373110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.646	0.04912	T	0.43	0.13713	T	0.787	0.44504	P	0.158	0.34617	B	0.000000	0.84330	D	0.048392	1	0.81001	D	3.135	0.88152	M	-0.97	0.75670	T	-1.57	0.43906	N	0.766	0.76573	-0.1446	0.79052	T	0.376	0.73423	T	10	0.7711235	0.77091	D	0.042095	0.60282	D	0.514	0.79217	0.508	0.60386	0.859905932731	0.85855	0.8393798456999656	0.83897	0.732840160607	0.62809	0.769111454487	0.77291	T	0.082478	0.36836	T	0.229494	0.76673	D	0.0918759	0.76371	D	0.979874908924103	0.73059	D	0.907909	0.67446	D	0.19502926	0.41275	0.22045027	0.46821	0.19502926	0.41275	0.22045027	0.46820	-7.482	0.57484	T	.	.	0.678	0.72042	P	.;.	.;.	4.107532	0.61298	24.3	0.99351796903171163	0.60615	0.98694	0.85672	D	AEFBI	0.831890	0.75035	D	0.597634821718804	0.73026	5.899435	0.657861563910108	0.79197	7.031849	0.999999999822534	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.38	5.38	0.77279	9.337000	0.96437	11.626000	0.93661	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.084	0.93177	816	0.41767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	22	chr14	44934542	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=182;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1456	6	1	0	0
chr14	45046651	45046651	C	T	exonic	TOGARAM1	.	nonsynonymous SNV	TOGARAM1:NM_001308120:exon14:c.C4261T:p.R1421C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0283430041362	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs375633921	1e-05	2.189e-05	8.081e-06	1.205e-05	6.885e-05	5.33e-06	4.21e-06	1.107e-05	4.14e-06	0	6.885e-05	0	6.688e-05	2.463e-05	0	7.173e-06	2.057e-05	0	6.574e-06	6.568e-06	0	1.346e-05	.	0	0	.	.	0	0	0	0	0	9.457e-05	0	0	0	0	.	.	.	0.001	0.83351	D	0.997	0.70673	D	0.785	0.57495	P	0.000006	0.62929	U	0.000000	0.999998	0.81001	D	.	.	.	0.97	0.42502	T	-2.64	0.56630	D	0.55	0.57604	-0.6988	0.60495	T	0.201	0.55695	T	9	0.41121587	0.56238	T	0.028343	0.51038	D	0.156	0.40720	0.458	0.52427	0.446310458034	0.44255	0.44509963660167995	0.44427	.	.	.	.	.	0.117968	0.43844	T	-0.120488	0.33044	T	-0.410849	0.32128	T	0.292464503787064	0.24692	T	0.962704	0.86103	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.58066	A	.	.	4.767920	0.77149	26.6	0.99905290461412122	0.97576	0.88232	0.48068	D	AEFBI	0.362821	0.45194	N	0.437946897987913	0.63522	4.587605	0.436608227908933	0.63861	4.628578	0.00459659489796996	0.10632	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.6	4.71	0.59010	1.793000	0.38397	4.825000	0.45150	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	0.981000	0.58702	0.3334:0.6666:0.0:0.0	13.685	0.61987	805	0.43675	CLASP N-terminal domain|TOG domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	793.45	75	chr14	45046651	.	C	T	793.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.6;DP=253;ExcessHet=0;FS=0.9;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-0.655;SOR=0.849	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1231	6	0	1	0
chr14	45110113	45110113	A	G	exonic	PRPF39	.	nonsynonymous SNV	PRPF39:NM_017922:exon9:c.A1196G:p.N399S	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00600362823945	0.0018	0.000399361	0.0016	0.0004	0.0004	0	0.0005	0.0025	0.0033	0.0008	0.0016882	261	154602	rs149834781	0.0024	0.0024	0.0024	0.0024	0.0029	0.0024	0.0023	0.0028	0.0027	0.0006	0.0010	0.0014	0	0.0007	0.0009	0.0029	0.0024	0.0010	0.0015	0.0015	0.0016	0.0015	0.0026	0.0014	0.0013	0.0023	0.0022	0.0005	0	0.0009	0.0032	0	0.0004	0	0.0026	0.0005	0.0006	0.965	0.02075	T	0.676	0.06186	T	0.095	0.25437	B	0.047	0.24832	B	0.000041	0.55875	N	0.190159	0.98401	0.40089	D	-0.24	0.03895	N	1.43	0.32958	T	0.57	0.02638	N	0.092	0.07125	-1.0362	0.18481	T	0.026	0.11043	T	10	0.0088249445	0.00200	T	0.006004	0.15668	T	0.093	0.26882	.	.	0.412688821616	0.40882	0.1518460223179444	0.15106	0.370283581431	0.38553	0.665320754051	0.62170	T	0.002573	0.01964	T	-0.640708	0.00083	T	-0.689383	0.06425	T	0.0195712728448023	0.00660	T	0.890711	0.62461	D	0.037012424	0.04663	0.054097697	0.09240	0.037012424	0.04663	0.054097697	0.09240	-4.93	0.36071	T	.	.	0.078	0.06896	B	.	.	2.371917	0.30435	18.44	0.86003345019999178	0.16250	0.82941	0.42104	D	AEFBI	0.162196	0.28834	N	-0.460717575896448	0.23378	1.255007	-0.207210134210931	0.31276	1.768501	0.929209610154166	0.26959	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	4.39	0.52211	5.125000	0.64555	9.341000	0.80216	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9255:0.0:0.0745:0.0	10.951	0.46540	828	0.39726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	538.63	57	chr14	45110113	.	A	G	538.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.173;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=1.22;SOR=0.68	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1073	6	0	1	0
chr14	45136202	45136202	G	C	exonic	FANCM	.	nonsynonymous SNV	FANCM:NM_001308133:exon1:c.G171C:p.L57F,FANCM:NM_001308134:exon1:c.G171C:p.L57F,FANCM:NM_020937:exon1:c.G171C:p.L57F	.	0	1516	6	0	0	6	0.00197498	.	.	.	320542	Fanconi_anemia|Spermatogenic_failure_28|Premature_ovarian_failure_15|FANCM-related_disorder|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0054732,MedGen:C4748117,OMIM:618086|MONDO:MONDO:0054862,MedGen:C4748170,OMIM:618096|.|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.064	0.00606018896748	0.0018	0.000399361	0.0016	0.0004	0.0004	0	0.0005	0.0025	0.0033	0.0008	0.0017076	264	154602	rs142007602	0.0024	0.0024	0.0024	0.0025	0.0029	0.0024	0.0023	0.0028	0.0028	0.0006	0.0010	0.0014	0	0.0007	0.0009	0.0029	0.0024	0.0010	0.0015	0.0015	0.0016	0.0015	0.0027	0.0014	0.0013	0.0024	0.0023	0.0005	0	0.0009	0.0032	0	0.0004	0	0.0027	0.0005	0.0006	0.048	0.40068	D	0.168	0.42976	T	0.026	0.24389	B	0.022	0.21939	B	0.032070	0.25080	N	0.294885	0.752312	0.33943	D	2.34	0.67151	M	2.58	0.13916	T	-2.48	0.54059	N	0.151	0.22486	-1.0821	0.06946	T	0.033	0.14117	T	10	0.010391653	0.00231	T	0.00606	0.15846	T	0.064	0.18567	0.465	0.53566	0.450152462452	0.44640	0.33167879403635986	0.33080	0.109337524117	0.12337	0.634920537472	0.57843	T	0.154481	0.49579	T	-0.490588	0.00645	T	-0.473747	0.25114	T	0.0620598967691673	0.07490	T	0.835416	0.50550	T	0.11937108	0.28109	0.16322358	0.37875	0.1304708	0.30441	0.21647355	0.46276	-6.105	0.48904	T	.	.	0.095	0.45061	B	.;.;.	.;.;.	2.370992	0.30420	18.43	0.99102636245465514	0.52521	0.62210	0.31713	D	ALL	0.227833	0.35159	N	-0.469880570957647	0.23071	1.236403	-0.399328345478878	0.25018	1.373323	0.99999999988759	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	5.1	1.07	0.19399	2.894000	0.48339	1.613000	0.27646	-0.254000	0.07082	1.000000	0.71638	0.999000	0.35428	0.940000	0.48062	0.165:0.0:0.5168:0.3182	5.135	0.14264	799	0.44747	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1215.44	89	chr14	45136202	.	G	C	1215.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.951;DP=270;ExcessHet=0;FS=2.799;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.65;SOR=0.588	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1088	6	0	1	0
chr14	45227710	45227710	C	T	exonic	MIS18BP1	.	nonsynonymous SNV	MIS18BP1:NM_018353:exon9:c.G1699A:p.V567I	.	.	.	.	.	.	.	.	.	.	.	702882	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.034	.	0.0079	0.00958466	0.0024	0.0255	0.0013	0.0003	0	7.496e-05	0	0	0.0023609	365	154602	rs111929061	0.0008	0.0008	0.0009	0.0007	0.0268	0.0008	0.0008	0.0254	0.0248	0.0268	0.0012	0	2.52e-05	0	0.0014	8.725e-05	0.0025	4.638e-05	0.0072	0.0073	0.0071	0.0073	0.0252	0.0069	0.0067	0.0239	0.0234	0.0252	0	0.0025	0	0.0002	0	0.0034	0.0001	0.0038	0.0002	1.0	0.00964	T	0.577	0.08594	T	0.0	0.02946	B	0.0	0.01387	B	0.112972	0.19335	N	0.493308	1	0.08975	N	-0.49	0.02651	N	2.3	0.16953	T	0.1	0.05810	N	0.055	0.02658	-0.9644	0.38330	T	0.006	0.01981	T	10	0.001985699	0.00028	T	.	.	.	0.034	0.08419	.	.	0.202086224978	0.19791	0.04965448061400526	0.04908	0.022609469708	0.02283	0.418821334839	0.27675	T	4.97E-4	0.00182	T	-0.747904	0.00018	T	-0.826816	0.01320	T	0.000577248172178839	0.00005	T	0.20398	0.02363	T	0.012607254	0.00037	0.019322114	0.00085	0.012607254	0.00037	0.019322114	0.00085	-2.996	0.10138	T	.	.	0.066	0.02313	B	.	.	0.071224	0.04796	1.407	0.085720062766467001	0.00070	0.00292	0.01564	N	AEFDBI	0.007340	0.00026	N	-1.35239241074769	0.03100	0.1379498	-1.25866337152181	0.05004	0.2374274	0.410842683472393	0.20210	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.08	0.951	0.18703	-0.083000	0.11250	0.552000	0.19430	-0.189000	0.09497	0.458000	0.26628	0.023000	0.20922	0.694000	0.33958	0.0:0.22:0.2983:0.4817	3.764	0.08136	792	0.45996	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1150.44	36	chr14	45227710	.	C	T	1150.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.674;DP=304;ExcessHet=0;FS=2.671;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=0.123;SOR=0.907	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	6	0	1	0
chr14	45231149	45231149	T	C	exonic	MIS18BP1	.	nonsynonymous SNV	MIS18BP1:NM_018353:exon8:c.A1586G:p.D529G	.	.	.	.	.	.	.	.	.	.	.	702883	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.015	.	0.0085	0.00958466	0.0025	0.0267	0.0016	0	0	7.515e-05	0.0011	0	0.0024773	383	154602	rs61741577	0.0009	0.0009	0.0010	0.0008	0.0285	0.0009	0.0008	0.0270	0.0264	0.0285	0.0015	0	0	0	0.0014	0.0001	0.0026	4.695e-05	0.0079	0.0079	0.0077	0.0081	0.0272	0.0075	0.0073	0.0259	0.0253	0.0272	0	0.0030	0	0	0	0.0034	0.0001	0.0052	0	0.171	0.22746	T	0.446	0.13103	T	0.002	0.09854	B	0.002	0.06944	B	0.559909	0.05419	N	1.236060	1	0.08975	N	1.5	0.37844	L	2.02	0.21119	T	-1.96	0.45404	N	0.145	0.14622	-0.9874	0.33249	T	0.019	0.08033	T	10	0.0038278103	0.00072	T	.	.	.	0.015	0.02232	.	.	0.112648838833	0.10856	0.20254179970289268	0.20171	0.0283514275094	0.02914	0.255592644215	0.04379	T	0.001292	0.00775	T	-0.66982	0.00055	T	-0.713297	0.05127	T	0.00210825369242755	0.00022	T	0.577942	0.20808	T	0.052042503	0.09648	0.04224135	0.04986	0.052042503	0.09648	0.04224135	0.04986	-3.725	0.19688	T	.	.	0.073	0.04681	B	.	.	1.877970	0.23857	16.18	0.89590005443234233	0.18928	0.04497	0.10117	N	AEFGBI	0.036454	0.04860	N	-1.08382220702043	0.06941	0.3209739	-1.12046862122153	0.07309	0.355066	0.00673922428047646	0.11294	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.04	-0.289	0.12214	-0.057000	0.11726	0.334000	0.17313	-0.178000	0.10482	0.000000	0.06391	0.775000	0.26732	0.004000	0.06068	0.0:0.3862:0.0:0.6138	7.816	0.28420	795	0.45444	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.005051	0.000000	0.011696	0.000000	0.000000	0.000000	0.000000	0.07143	505.45	28	chr14	45231149	.	T	C	505.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.746;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=0.943;SOR=0.818	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr14	45246797	45246797	A	G	exonic	MIS18BP1	.	nonsynonymous SNV	MIS18BP1:NM_018353:exon2:c.T490C:p.C164R	.	.	.	.	.	.	.	.	.	.	.	702884	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.085	.	0.0080	0.00958466	0.0024	0.0258	0.0013	0	0	7.586e-05	0	0	0.002348	363	154602	rs1269008	0.0008	0.0008	0.0009	0.0007	0.0271	0.0007	0.0007	0.0255	0.0249	0.0271	0.0012	0	0	0	0.0014	8.875e-05	0.0022	5.013e-05	0.0073	0.0073	0.0072	0.0073	0.0253	0.0069	0.0068	0.0241	0.0236	0.0253	0	0.0025	0	0	0	0.0034	0.0001	0.0038	0	0.318	0.13654	T	0.483	0.63918	T	0.845	0.46707	P	0.39	0.44145	B	0.156590	0.17795	N	0.604547	0.949485	0.37654	D	2.565	0.75005	M	2.16	0.19166	T	-4.2	0.75695	D	0.553	0.57860	-1.0957	0.04653	T	0.026	0.11220	T	10	0.0058618784	0.00131	T	.	.	.	0.085	0.24743	.	.	0.407357902709	0.40350	0.22023252501859572	0.21939	0.184258357792	0.20723	0.546376347542	0.45346	T	0.009197	0.44639	T	-0.13266	0.31066	T	-0.428334	0.30124	T	0.0570865126872686	0.06702	T	0.630737	0.24588	T	0.24727306	0.47703	0.22154032	0.46968	0.24727306	0.47703	0.22154032	0.46967	-2.801	0.08193	T	.	.	0.177	0.45111	B	.;.	.;.	3.072056	0.41293	21.3	0.91430879617073157	0.20699	0.79149	0.39166	D	AEFDGBI	0.234680	0.35740	N	0.0684280317237546	0.44993	2.76352	0.0874399517937477	0.43914	2.68351	0.999995617460525	0.74766	0.736574	0.97449	0	0.672317	0.65289	0	0.732669	0.93749	0	0.645665	0.59343	0	.	.	5.35	2.79	0.31792	2.516000	0.45181	7.382000	0.58460	-0.095000	0.16041	0.970000	0.34288	1.000000	0.68203	0.955000	0.50612	0.6521:0.1776:0.0:0.1703	5.690	0.17099	780	0.47616	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	574.44	33	chr14	45246797	.	A	G	574.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.803;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=-0.303;SOR=0.76	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1208	6	0	1	0
chr14	49586032	49586032	C	T	exonic	RPS29	.	nonsynonymous SNV	RPS29:NM_001030001:exon2:c.G80A:p.R27Q,RPS29:NM_001032:exon2:c.G80A:p.R27Q,RPS29:NM_001351375:exon2:c.G71A:p.R24Q	Diamond-Blackfan anemia 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.103728851759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	0	1.377e-06	9e-07	0	0	.	.	0	0	0	0	0	0	9e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.485	0.08115	T	0.495	0.15355	T	0.003	0.11197	B	0.006	0.12133	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	-1.09	0.32590	N	0.78	0.79118	-0.9797	0.35071	T	0.123	0.42589	T	8	0.3362448	0.50768	T	0.103729	0.77792	D	0.174	0.44019	0.42	0.46200	0.227934060464	0.22382	0.8578765483497026	0.85750	1.42041158523	0.85606	0.835893034935	0.87468	D	0.426055	0.77597	T	0.188761	0.72849	D	0.0333663	0.72496	D	0.981718182563782	0.74070	D	0.80142	0.46084	T	0.6506185	0.75397	0.4888436	0.70423	0.6506185	0.75398	0.4888436	0.70423	-7.582	0.63377	D	0.09475712425302887	0.06377	0.237	0.64062	B	.;.;.;.;.;.	.;.;.;.;.;.	4.711783	0.75700	26.4	0.99759148360519512	0.84931	0.72858	0.35649	D	ALL	0.870239	0.79113	D	0.0403471399827219	0.43701	2.657809	0.25238241552367	0.52785	3.451043	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	6.06	6.06	0.98340	7.404000	0.79226	7.548000	0.60216	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	19.185	0.93625	802	0.44336	.;Ribosomal protein S14, conserved site;Ribosomal protein S14, conserved site;Ribosomal protein S14, conserved site;Ribosomal protein S14, conserved site;Ribosomal protein S14, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	39.83	109	chr14	49586032	.	C	T	39.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.83;DP=373;ExcessHet=0;FS=79.764;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.7;ReadPosRankSum=1.67;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,104,1490:.	6	0	1	0
chr14	49635006	49635006	G	T	exonic	DNAAF2	.	nonsynonymous SNV	DNAAF2:NM_001083908:exon1:c.C144A:p.N48K,DNAAF2:NM_018139:exon1:c.C144A:p.N48K	Ciliary dyskinesia, primary, 10	0	1521	1	0	0	1	0.000328623	.	.	.	230532	not_specified|Primary_ciliary_dyskinesia_10|not_provided|Primary_ciliary_dyskinesia	MedGen:CN169374|MONDO:MONDO:0012918,MedGen:C2675867,OMIM:612518,Orphanet:244|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.193	.	0.0076	0.0105831	0.0042	0.0521	0.0022	0	0	0	0.0048	0	0.0017917	277	154602	rs116185352	0.0010	0.0010	0.0011	0.0009	0.0359	0.0009	0.0009	0.0342	0.0335	0.0359	0.0018	0	0	0	0.0016	1.928e-05	0.0020	9.921e-05	0.0099	0.0099	0.0100	0.0097	0.0336	0.0095	0.0093	0.0321	0.0315	0.0336	0	0.0054	0	0	0	0	0.0001	0.0071	0.0006	0.0	0.91255	D	0.02	0.58613	D	0.976	0.70673	D	0.975	0.73362	D	.	.	.	.	0.99991	0.51042	D	2.795	0.81503	M	2.2	0.18570	T	-4.97	0.82063	D	0.48	0.55106	-1.1440	0.01216	T	0.019	0.08033	T	9	0.008877128	0.00201	T	.	.	.	0.193	0.47281	0.493	0.58048	0.707680943951	0.70513	0.9094305641444732	0.90917	1.54673122755	0.87836	0.637837529182	0.58256	T	0.078779	0.35972	T	-0.493998	0.00618	T	-0.456608	0.26969	T	0.0652754912529847	0.07971	T	0.763624	0.39853	T	0.6265997	0.74117	0.7193418	0.83430	0.67007583	0.76439	0.8113271	0.88985	-11.211	0.80802	D	0.8523139721207247	0.91812	0.831	0.78761	P	.;.	.;.	3.901668	0.56841	23.8	0.9950414687274185	0.68206	0.27205	0.23212	N	ALL	0.413366	0.48307	N	0.313953089041447	0.56863	3.851925	0.190350729824431	0.49318	3.136335	0.9999999999988	0.74766	0.242642	0.04205	2	0.484254	0.07192	0	0.391439	0.06340	0	0.56214	0.19341	0	.	.	5.09	3.19	0.35720	1.431000	0.34534	4.302000	0.42943	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.742000	0.35507	0.08:0.3322:0.5878:0.0	9.803	0.39945	840	0.37365	PIH1 domain|PIH1 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001515	0.005263	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.08333	1335.27	36	chr14	49635006	.	G	T	1335.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.778;DP=286;ExcessHet=0;FS=1.728;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=-0.992;SOR=0.922	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,102,1530	5	0	1	1
chr14	50114365	50114365	C	T	exonic	VCPKMT	.	nonsynonymous SNV	VCPKMT:NM_001040662:exon4:c.G490A:p.G164R,VCPKMT:NM_024558:exon4:c.G490A:p.G164R	.	607	913	2	0	0	2	0.00109409	.	.	.	3345497	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.366	0.0507046339229	.	0.000199681	1.972e-05	0	0.0001	0	0	0	0	6.75e-05	1.94e-05	3	154602	rs181887490	1.05e-05	1.437e-05	1.251e-05	8.46e-06	0.0002	6.31e-06	5e-06	8.54e-06	3.2e-06	3.121e-05	2.533e-05	0	5.157e-05	1.896e-05	0.0002	6.373e-06	0	2.549e-05	1.971e-05	2.625e-05	1.285e-05	2.688e-05	6.541e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.541e-05	0	0	0	0	2.94e-05	0	0	0.012	0.54683	D	0.017	0.60337	D	0.999	0.77913	D	0.939	0.67449	D	0.013547	0.28806	U	0.000000	1	0.81001	D	2.185	0.61350	M	3.28	0.39223	T	-3.45	0.67589	D	0.89	0.89689	-0.8306	0.53263	T	0.220	0.58266	T	10	0.67976147	0.71208	D	0.050705	0.64354	D	0.366	0.68582	0.537	0.64730	0.515771540734	0.51220	0.858762907211899	0.85839	0.0232111959726	0.02356	0.637236952782	0.58172	T	0.025216	0.18900	T	0.130211	0.67382	D	0.138999	0.79478	D	0.966407120227814	0.67572	D	0.950205	0.80929	D	0.71225935	0.78732	0.5853241	0.75953	0.71225935	0.78733	0.5853241	0.75954	-8.87	0.70160	D	.	.	0.369	0.61832	A	.;.	.;.	5.613711	0.92552	32	0.99937661062978211	0.99661	0.98400	0.82389	D	AEFBI	0.813596	0.73603	D	0.682657579163756	0.78495	6.883439	0.686904627506869	0.81384	7.514025	1.0	0.98316	0.651	0.46895	0	0.685571	0.66316	0	0.486962	0.07600	0	0.683762	0.67416	0	.	.	5.19	5.19	0.71428	7.503000	0.80474	7.639000	0.63104	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	19.077	0.93148	446	0.79659	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001515	0.000000	0.002717	0.000000	0.000000	0.000000	0.003067	0.000000	0.07143	249.63	20	chr14	50114365	.	C	T	249.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.335;DP=166;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=0.248;SOR=0.385	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,950	6	0	1	0
chr14	50247167	50247167	A	G	exonic	L2HGDH	.	nonsynonymous SNV	L2HGDH:NM_024884:exon10:c.T1283C:p.I428T	L-2-hydroxyglutaric aciduria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3539364	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.498	0.0888478191509	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1025426883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.025	0.56192	D	0.51	0.37313	P	0.579	0.50152	P	0.001303	0.39449	N	0.247642	0.998407	0.81001	D	2.175	0.60977	M	-1.24	0.78967	T	-3.59	0.69236	D	0.243	0.40565	-0.1745	0.78318	T	0.438	0.77727	T	10	0.413584	0.56390	T	0.088848	0.75213	D	0.498	0.78226	0.512	0.61000	0.857650482772	0.85627	0.6176417472545308	0.61697	0.573721100839	0.53415	0.403858482838	0.25605	T	0.396641	0.75522	T	0.0493316	0.58258	T	-0.166915	0.57726	T	0.998706579208374	0.94917	D	0.80002	0.44558	T	0.202501	0.42297	0.26097545	0.51868	0.202501	0.42297	0.26097545	0.51867	-6.584	0.50930	T	.	.	0.120	0.24666	B	.;.	.;.	4.124784	0.61682	24.4	0.99666678917998996	0.78330	0.98594	0.84485	D	AEFI	0.798137	0.72477	D	0.27448108424264	0.54860	3.650574	0.319570252763991	0.56691	3.832793	0.999999487332892	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.35	5.35	0.76297	9.290000	0.95109	7.441000	0.58873	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.558000	0.30364	1.0:0.0:0.0:0.0	15.311	0.73738	408	0.82256	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	1593.44	33	chr14	50247167	.	A	G	1593.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.326;DP=335;ExcessHet=0;FS=5.131;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.846;SOR=0.619	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	6	0	1	0
chr14	50915919	50915919	G	A	exonic	PYGL	.	nonsynonymous SNV	PYGL:NM_001163940:exon9:c.C1043T:p.P348L,PYGL:NM_002863:exon10:c.C1145T:p.P382L	Glycogen storage disease VI, Autosomal recessive	1	1516	5	0	0	5	0.00164636	.	.	YES	513344	not_specified|PYGL-related_disorder|Glycogen_storage_disease,_type_VI|not_provided	MedGen:CN169374|.|MONDO:MONDO:0009294,MedGen:C0017925,OMIM:232700,Orphanet:369|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.924	0.340959425409	0.0048	0.00179712	0.0045	0.0012	0.0008	0	0.0030	0.0072	0.0022	0.0016	0.0047671	737	154602	rs143759519	0.0056	0.0056	0.0056	0.0055	0.0067	0.0055	0.0054	0.0066	0.0065	0.0011	0.0013	0.0013	0	0.0033	0.0014	0.0067	0.0041	0.0016	0.0043	0.0043	0.0046	0.0039	0.0076	0.0040	0.0039	0.0070	0.0068	0.0012	0.0121	0.0017	0.0014	0	0.0025	0	0.0076	0.0047	0.0010	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.985	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.38	0.98579	H	-3.34	0.93975	D	-7.89	0.96779	D	0.995	0.99929	0.929	0.96091	D	0.914	0.97153	D	10	0.098901	0.17911	T	0.340959	0.92013	D	0.924	0.98117	.	.	0.996916127999	0.99688	0.9452338491035593	0.94505	0.545350321835	0.51572	0.793032765388	0.80903	T	0.814637	0.95404	D	0.189861	0.72951	D	0.511622	0.94854	D	0.166661954763206	0.18350	T	0.993601	0.97904	D	0.9647362	0.97753	0.90539914	0.95361	0.95915383	0.97195	0.91196984	0.95829	-12.333	0.91398	D	0.7083941485625354	0.78827	0.641	0.70552	P	.;.;.	.;.;.	5.267127	0.88442	29.6	0.99905294881567519	0.97576	0.99350	0.94868	D	AEFGBI	0.930971	0.91907	D	1.10766323443215	0.98274	17.84405	1.01674911766596	0.98926	19.90689	0.999999999999928	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.41	5.41	0.78313	9.968000	0.99102	11.712000	0.94670	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	18.555	0.91034	364	0.84707	.;.;.	.	.	.	.	rs143759519	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	846.63	35	chr14	50915919	.	G	A	846.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.06;DP=267;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-0.093;SOR=0.708	GT:AD:DP:GQ:PL	0/1:47,38:85:99:857,0,1109	6	0	1	0
chr14	51725799	51725799	G	A	exonic	FRMD6	.	nonsynonymous SNV	FRMD6:NM_001267047:exon4:c.G439A:p.G147R,FRMD6:NM_001267046:exon13:c.G1513A:p.G505R,FRMD6:NM_152330:exon13:c.G1489A:p.G497R,FRMD6:NM_001042481:exon14:c.G1489A:p.G497R	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.0236521197687	.	.	8.245e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs761646381	1.027e-05	1.026e-05	9.535e-06	1.101e-05	0.0003	6.17e-06	4.89e-06	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	1.17e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.38407	T	0.024	0.57104	D	0.023	0.18885	B	0.017	0.18140	B	0.000401	0.44960	D	0.238525	0.761262	0.34041	D	0	0.06538	N	-1.07	0.76948	T	-0.52	0.29114	N	0.186	0.24260	-0.9283	0.44386	T	0.174	0.51722	T	10	0.07432562	0.11345	T	0.023652	0.46619	T	0.191	0.46948	0.296	0.26041	0.694078074994	0.69144	0.2510187880151128	0.25015	0.16921771514	0.19074	0.50617235899	0.39687	T	0.111726	0.42743	T	0.0162211	0.53870	T	-0.214476	0.53267	T	0.360750555992126	0.27438	T	0.935706	0.75920	D	0.100651205	0.23769	0.06610277	0.13493	0.100651205	0.23769	0.06610277	0.13492	-3.085	0.11125	T	.	.	0.506	0.64862	A	.;.;.;.;.	.;.;.;.;.	2.410818	0.30984	18.60	0.98877227469150408	0.47754	0.72141	0.35322	D	AEFBI	0.097829	0.19724	N	-0.463222161476648	0.23293	1.249869	-0.28694179076433	0.28527	1.591344	0.999916429662101	0.45857	0.722319	0.85440	0	0.588015	0.36545	0	0.65145	0.50148	0	0.735409	0.98432	0	.	.	5.83	2.52	0.29514	2.945000	0.48735	3.827000	0.39978	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.969000	0.54022	0.4696:0.0:0.5304:0.0	5.795	0.17643	764	0.49969	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	384.83	53	chr14	51725799	.	G	A	384.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.222;DP=235;ExcessHet=0;FS=3.998;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.26;ReadPosRankSum=1.54;SOR=0.883	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1315	6	0	1	0
chr14	51998518	51998518	C	T	exonic	RTRAF	.	nonsynonymous SNV	RTRAF:NM_016039:exon4:c.C311T:p.P104L	.	583	929	8	2	0	12	0.00641711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.00471137973843	0.0008	0.00139776	0.0017	0.0002	0.0006	0	0.0002	0.0011	0.0011	0.0073	0.0014812	229	154602	rs149288575	0.0012	0.0012	0.0009	0.0014	0.0121	0.0011	0.0011	0.0098	0.0090	0.0004	0.0007	0.0011	0	3.772e-05	0.0121	0.0008	0.0015	0.0070	0.0008	0.0008	0.0007	0.0009	0.0073	0.0007	0.0006	0.0054	0.0047	9.637e-05	0	0.0005	0.0009	0	0	0.0068	0.0010	0.0019	0.0073	0.048	0.50132	D	0.067	0.64786	T	0.734	0.42776	P	0.183	0.35961	B	0.000000	0.84330	N	0.090614	1	0.81001	D	.	.	.	.	.	.	-1.92	0.60188	N	0.256	0.30687	-0.8519	0.51837	T	0.174	0.51690	T	9	0.008100778	0.00184	T	0.004711	0.11722	T	0.178	0.44724	.	.	0.306606720791	0.30265	0.40050237559984214	0.39965	0.169844441891	0.19151	.	.	.	0.088205	0.38109	T	-0.37654	0.03275	T	-0.310482	0.43606	T	0.0267565178973074	0.01509	T	0.739426	0.37414	T	0.18067695	0.39200	0.16869712	0.38849	0.18067695	0.39200	0.16869712	0.38848	-3.079	0.11056	T	.	.	0.131	0.42877	B	.;.;.	.;.;.	3.599196	0.50833	23.0	0.99571419932803429	0.72440	0.92850	0.56698	D	AEFBHCI	0.784571	0.71522	D	0.204219409761435	0.51404	3.321856	0.278176192109593	0.54267	3.592265	0.999999984033858	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	6.03	5.14	0.70008	3.822000	0.55408	5.961000	0.51824	0.594000	0.32500	0.938000	0.32564	0.970000	0.29701	0.999000	0.91618	0.0:0.9329:0.0:0.0671	15.227	0.73050	888	0.27761	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.012228	0.008772	0.000000	0.017241	0.003049	0.018939	0.07143	667.53	33	chr14	51998518	.	C	T	667.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.616;DP=221;ExcessHet=0;FS=1.088;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.812;SOR=0.511	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1109	6	0	1	0
chr14	52613695	52613695	T	A	exonic	GPR137C	.	nonsynonymous SNV	GPR137C:NM_001353361:exon4:c.T742A:p.W248R	.	434	1077	11	0	0	11	0.00508083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	0.000199681	0.0275	.	.	0	.	0	0	0.0536	0.0001617	25	154602	rs536981987	0.0009	0.0005	0.0005	0.0011	0.0038	0.0007	0.0007	0.0031	0.0029	0	0.0004	0	0	0.0002	0.0005	0.0002	0.0011	0.0038	0.0002	0.0002	0.0002	0.0003	0.0027	0.0002	0.0001	0.0016	0.0013	4.809e-05	0	0.0007	0	0	0	0	8.819e-05	0.0005	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.23	8	chr14	52613695	.	T	A	33.23	.	AC=2;AF=0.143;AN=14;DP=133;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,921	6	1	0	0
chr14	55351057	55351057	G	A	exonic	FBXO34	.	nonsynonymous SNV	FBXO34:NM_017943:exon2:c.G667A:p.A223T,FBXO34:NM_152231:exon2:c.G667A:p.A223T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0136017871865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.219	0.25987	T	0.986	0.61523	D	0.775	0.57058	P	0.956314	0.07689	N	1.022250	0.979466	0.25180	N	2.095	0.58118	M	0.89	0.45636	T	-0.98	0.25986	N	0.175	0.20793	-0.7998	0.55156	T	0.221	0.58485	T	10	0.31112334	0.48584	T	0.013602	0.33126	T	0.150	0.39571	0.196	0.10839	0.719817184352	0.71735	0.11182629448481363	0.11111	0.578813786062	0.53776	0.459347873926	0.33221	T	0.004689	0.04103	T	-0.0797675	0.39753	T	-0.352357	0.38936	T	0.821350038051605	0.47873	D	0.829317	0.49436	T	0.08618775	0.20023	0.09718504	0.23121	0.08618775	0.20023	0.09718504	0.23121	-4.123	0.25628	T	.	.	0.106	0.20547	B	.;.	.;.	3.830231	0.55357	23.6	0.98648150165096837	0.44151	0.96968	0.71932	D	AEFDBI	0.279692	0.39368	N	0.545043245402962	0.69781	5.405954	0.522244916929451	0.69488	5.367752	0.999746744278923	0.42466	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	5.919000	0.69736	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.787000	0.37188	0.0:0.0:1.0:0.0	17.725	0.88270	516	0.74704	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1304.44	49	chr14	55351057	.	G	A	1304.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.998;DP=472;ExcessHet=0;FS=1.637;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-0.079;SOR=0.5	GT:AD:DP:GQ:PL	0/0:117,0:117:99:0,120,1800	6	0	1	0
chr14	55640948	55640948	G	C	exonic	KTN1	.	nonsynonymous SNV	KTN1:NM_001079521:exon16:c.G1999C:p.E667Q,KTN1:NM_004986:exon16:c.G1999C:p.E667Q,KTN1:NM_001079522:exon17:c.G1999C:p.E667Q,KTN1:NM_001271014:exon17:c.G1999C:p.E667Q	.	429	1081	12	0	0	12	0.00551978	.	.	.	725703	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.117	.	0.0050	0.0133786	0.0045	0.0157	0.0006	0.0015	0	0.0002	0.0034	0.0211	0.0042884	663	154602	rs114095603	0.0018	0.0019	0.0015	0.0022	0.0178	0.0018	0.0018	0.0171	0.0168	0.0178	0.0017	0	0.0010	1.873e-05	0.0059	0.0001	0.0044	0.0178	0.0059	0.0059	0.0058	0.0060	0.0230	0.0056	0.0055	0.0195	0.0182	0.0160	0	0.0043	0	0.0031	0	0	0.0003	0.0095	0.0230	0.011	0.63226	D	0.064	0.52389	T	0.999	0.90584	D	0.997	0.92359	D	0.000048	0.53742	D	0.000000	0.726603	0.33674	D	2.215	0.62545	M	1.42	0.34050	T	-0.71	0.22944	N	0.438	0.58798	-0.8348	0.52989	T	0.074	0.29834	T	10	0.005549133	0.00123	T	.	.	.	0.117	0.32689	.	.	0.273495378476	0.26946	0.23546010802605358	0.23461	0.184370431722	0.20736	0.551588177681	0.46081	T	0.08358	0.37087	T	-0.370693	0.03559	T	-0.290315	0.45740	T	0.0170148031191375	0.00450	T	0.868313	0.57032	D	0.24724776	0.47701	0.13838111	0.33049	0.24724776	0.47701	0.13838111	0.33048	-2.869	0.10954	T	.	.	0.093	0.22098	B	.;.;.;.;.;.	.;.;.;.;.;.	4.791457	0.77763	26.8	0.99781406498538761	0.86780	0.99253	0.93488	D	AEFGBI	0.771355	0.70602	D	0.626004122209953	0.74824	6.198785	0.615421184322692	0.76060	6.421839	0.999998774180662	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.645665	0.59343	0	.	.	4.87	4.87	0.62877	4.296000	0.58852	11.815000	0.97057	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	16.557	0.84336	386	0.83455	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.000000	0.008152	0.005848	0.000000	0.017241	0.003049	0.018939	0.07143	859.49	34	chr14	55640948	.	G	C	859.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.184;DP=264;ExcessHet=0;FS=4.012;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.66;ReadPosRankSum=-1.813;SOR=1.127	GT:AD:DP:GQ:PL	0/1:51,38:89:99:870,0,1348	6	0	1	0
chr14	56634901	56634901	-	TGATCCATCTTCTTGGGAATC	exonic	TMEM260	.	nonframeshift insertion	TMEM260:NM_017799:exon14:c.1727_1728insTGATCCATCTTCTTGGGAATC:p.S583_V584insDPSSWES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1193.45	79	chr14	56634901	.	T	TTGATCCATCTTCTTGGGAATC	1193.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.752;DP=317;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=-0.766;SOR=0.709	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	6	0	1	0
chr14	58096924	58096924	T	C	exonic	ARMH4	.	nonsynonymous SNV	ARMH4:NM_001001872:exon5:c.A1889G:p.D630G	.	398	1116	4	0	4	8	0.00178891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.0229555288524	0.0042	0.00219649	0.0042	0.0005	0.0018	0	0.0027	0.0067	0.0033	0.0015	0.0041332	639	154602	rs140057603	0.0044	0.0044	0.0043	0.0045	0.0051	0.0043	0.0043	0.0050	0.0050	0.0007	0.0032	0.0044	0	0.0028	0.0024	0.0051	0.0040	0.0010	0.0044	0.0044	0.0047	0.0040	0.0072	0.0041	0.0040	0.0066	0.0064	0.0008	0	0.0061	0.0049	0.0002	0.0018	0.0034	0.0072	0.0033	0.0008	0.089	0.32141	T	0.096	0.39340	T	0.996	0.68779	D	0.93	0.66466	D	0.150474	0.17985	N	0.536026	0.670763	0.33140	D	.	.	.	-0.48	0.70249	T	-2.76	0.58569	D	0.209	0.23253	-0.0242	0.81752	T	0.349	0.71359	T	10	0.00657025	0.00149	T	0.022956	0.45892	T	0.172	0.43662	.	.	0.648788052915	0.64587	0.017383507307861087	0.01693	0.0403669699203	0.04325	.	.	.	0.037114	0.24357	T	-0.346371	0.04959	T	-0.266589	0.48163	T	0.0197501179951799	0.00677	T	0.607039	0.22875	T	0.28625208	0.51642	0.21350496	0.45863	0.28625208	0.51642	0.21350496	0.45862	-6.723	0.51984	T	.	.	0.121	0.25067	B	.	.	2.590693	0.33606	19.39	0.98130817926870595	0.38514	0.91829	0.54352	D	AEFDGBI	0.537393	0.55521	D	0.480153070071585	0.65932	4.885142	0.454557472389044	0.65010	4.76995	0.999978321097873	0.50053	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.616125	0.45549	0	.	.	4.72	4.72	0.59248	2.626000	0.46126	4.731000	0.44554	0.665000	0.62972	0.986000	0.36153	1.000000	0.68203	0.983000	0.59808	0.0:0.0:0.0:1.0	13.326	0.59895	834	0.38640	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1270.44	40	chr14	58096924	.	T	C	1270.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.568;DP=324;ExcessHet=0;FS=1.465;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=0.801;SOR=0.853	GT:AD:DP:GQ:PL	0/1:77,55:132:99:1281,0,1738	6	0	1	0
chr14	58133226	58133226	C	A	exonic	ARMH4	.	nonsynonymous SNV	ARMH4:NM_001001872:exon3:c.G1485T:p.E495D,ARMH4:NM_001320173:exon3:c.G1485T:p.E495D	.	426	1073	21	2	0	25	0.0115154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.010809206987	0.0002	0.000798722	0.0009	0	0.0011	0	0	0.0010	0.0033	0.0020	0.0008861	137	154602	rs147981947	0.0007	0.0007	0.0006	0.0008	0.0059	0.0007	0.0006	0.0043	0.0038	0.0001	0.0009	0.0009	0	3.744e-05	0.0059	0.0006	0.0007	0.0023	0.0006	0.0006	0.0006	0.0007	0.0027	0.0005	0.0005	0.0016	0.0013	7.225e-05	0.0011	0.0009	0.0009	0	0	0	0.0008	0.0038	0.0027	0.035	0.43708	D	0.101	0.38596	T	0.971	0.57185	D	0.721	0.54900	P	0.012483	0.29156	N	0.294052	0.847836	0.35172	D	.	.	.	1.86	0.24285	T	-2.46	0.53736	N	0.191	0.20925	-0.9336	0.43605	T	0.105	0.38390	T	10	0.009754986	0.00219	T	0.010809	0.27768	T	0.054	0.15330	0.155	0.05858	0.0551355673512	0.04727	0.044565284659814	0.04400	0.0780390423039	0.08785	.	.	.	0.038967	0.25026	T	-0.538043	0.00344	T	-0.552422	0.17093	T	0.0445649304134644	0.04522	T	0.454355	0.12956	T	0.117513396	0.27703	0.108159326	0.26050	0.117513396	0.27703	0.108159326	0.26049	-4.701	0.33416	T	.	.	0.121	0.25133	B	.	.	2.207759	0.28159	17.71	0.99629274163288084	0.75959	0.68157	0.33696	D	AEFGBI	0.202729	0.32929	N	0.163183261700615	0.49437	3.144204	0.0975631311440947	0.44426	2.724604	0.999977659090372	0.50053	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.59	4.7	0.58776	1.982000	0.40260	0.212000	0.15973	0.599000	0.40250	0.718000	0.28801	0.000000	0.08366	0.017000	0.10941	0.0:0.9025:0.0:0.0975	9.598	0.38752	868	0.31772	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.011364	0.07143	1399.49	33	chr14	58133226	.	C	A	1399.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.17;DP=304;ExcessHet=0;FS=2.282;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=-1.043;SOR=0.503	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1385	6	0	1	0
chr14	58138194	58138194	A	G	exonic	ARMH4	.	nonsynonymous SNV	ARMH4:NM_001001872:exon2:c.T1165C:p.S389P,ARMH4:NM_001320173:exon2:c.T1165C:p.S389P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.00991569293664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.003	0.76473	D	0.989	0.62824	D	0.885	0.62825	P	0.214351	0.16289	N	0.566984	1	0.08975	N	.	.	.	1.68	0.27184	T	-2.49	0.54217	N	0.17	0.18103	-1.0535	0.13440	T	0.102	0.37568	T	10	0.1590898	0.29900	T	0.009916	0.25833	T	0.182	0.45420	0.374	0.38667	0.0666544352282	0.05500	0.13696643335137432	0.13620	0.121842658127	0.13733	.	.	.	0.025561	0.19086	T	-0.0273703	0.47799	T	-0.277092	0.47102	T	0.522264003753662	0.33449	D	0.49655	0.15423	T	0.24250986	0.47179	0.2958181	0.55614	0.24250986	0.47179	0.2958181	0.55613	-4.12	0.25584	T	.	.	0.088	0.11749	B	.	.	1.334307	0.17401	13.14	0.99607788779664785	0.74634	0.04756	0.10462	N	AEFGBCI	0.103078	0.20660	N	-0.222407257448638	0.32215	1.814444	-0.420636230168889	0.24392	1.335448	0.999940150298763	0.47345	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.86	2.08	0.26079	0.156000	0.16200	1.252000	0.25176	0.751000	0.87719	0.001000	0.13787	0.087000	0.22477	0.167000	0.20881	0.4904:0.4346:0.075:0.0	7.430	0.26296	875	0.30485	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	59.44	33	chr14	58138194	.	A	G	59.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.802;DP=299;ExcessHet=0;FS=50.002;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0.069;SOR=4.399	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1162	6	0	1	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0362747916202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	8.123e-05	7.948e-05	1.955e-05	0	0.0003	0.0002	7.24e-05	6.639e-06	2.641e-05	0	1.359e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.35	0.12305	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.000051	0.53742	D	0.197305	0.974077	0.39075	D	0.06	0.08197	N	-3.44	0.94428	D	-1.31	0.32791	N	0.456	0.49328	0.114	0.84424	D	0.666	0.88403	D	10	0.36079857	0.52715	T	0.036275	0.56887	D	0.324	0.64624	0.434	0.48500	0.993195394259	0.99311	0.5930593215126997	0.59235	0.374889918543	0.38946	0.782578408718	0.79317	T	0.399172	0.75708	T	0.0213512	0.54564	T	-0.207107	0.53971	T	0.59854531288147	0.36343	D	0.833317	0.50212	T	0.060931925	0.12560	0.09373129	0.22154	0.060931925	0.12560	0.09373129	0.22154	-5.421	0.41121	T	.	.	0.486	0.63951	A	.	.	3.186553	0.43278	21.7	0.8580340382623457	0.16122	0.91508	0.53678	D	AEFBI	0.213280	0.33888	N	-0.111420387238393	0.36894	2.138883	0.0755270437198708	0.43321	2.636326	0.9557581108309	0.28208	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	4.582000	0.60668	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0786:0.0:0.9214	9.930	0.40688	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	137.24	17	chr14	58213644	.	T	C	137.24	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.517;DP=189;ExcessHet=1.383;FS=173.983;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.23;ReadPosRankSum=2.35;SOR=7.378	GT:AD:DP:GQ:PL	0/1:24,18:42:99:122,0,285	3	0	3	1
chr14	58402695	58402695	A	G	exonic	TOMM20L	.	nonsynonymous SNV	TOMM20L:NM_207377:exon3:c.A196G:p.K66E	.	434	1087	1	0	0	1	0.00045977	.	.	.	2695229	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	0.00298590272316	0.0002	.	0.0002	0.0002	0.0007	0	0	0.0002	0	0	0.0001811	28	154602	rs145388081	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	0	0.0005	0	0	0	0	0.0002	0.0001	0	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	2.412e-05	0	0.0003	0	0	0	0	0.0004	0	0	0.045	0.40832	D	0.226	0.25438	T	0.126	0.26920	B	0.138	0.33406	B	0.496464	0.05066	N	1.290410	1	0.08975	N	1.87	0.49600	L	1.05	0.39990	T	0.8	0.01866	N	0.203	0.22486	-0.9541	0.40256	T	0.114	0.40490	T	10	0.049021184	0.04432	T	0.002986	0.06369	T	0.068	0.19811	.	.	0.0138822411134	0.00435	0.06089445402709528	0.06029	0.877289974336	0.69629	0.433126598597	0.29636	T	0.016125	0.13389	T	-0.436865	0.01349	T	-0.54723	0.17593	T	0.00963409217592302	0.00125	T	0.463154	0.13467	T	0.1486996	0.33935	0.14366305	0.34135	0.1486996	0.33935	0.14366305	0.34134	-1.959	0.03030	T	.	.	0.086	0.10545	B	.	.	1.608726	0.20559	14.80	0.96994466962986958	0.31916	0.45471	0.27546	N	AEFI	0.121643	0.23641	N	-0.494275759431745	0.22268	1.187814	-0.523955312080627	0.21504	1.163569	0.0470786755639618	0.14716	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.77	0.797	0.17797	0.619000	0.24083	4.702000	0.44414	0.691000	0.84096	0.526000	0.27158	0.819000	0.27109	0.961000	0.51904	0.4122:0.3357:0.0902:0.1619	1.910	0.03085	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	422.46	20	chr14	58402695	.	A	G	422.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.945;DP=198;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=0.444;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1212	6	0	1	0
chr14	58465837	58465837	A	-	exonic	KIAA0586	.	frameshift deletion	KIAA0586:NM_001244193:exon12:c.1642delA:p.T548Lfs*3,KIAA0586:NM_014749:exon14:c.1834delA:p.T612Lfs*3,KIAA0586:NM_001244191:exon15:c.1807delA:p.T603Lfs*3,KIAA0586:NM_001329943:exon15:c.2062delA:p.T688Lfs*3,KIAA0586:NM_001329944:exon15:c.2062delA:p.T688Lfs*3,KIAA0586:NM_001329945:exon15:c.1807delA:p.T603Lfs*3,KIAA0586:NM_001329946:exon15:c.2062delA:p.T688Lfs*3,KIAA0586:NM_001329947:exon15:c.2062delA:p.T688Lfs*3,KIAA0586:NM_001364700:exon15:c.1807delA:p.T603Lfs*3,KIAA0586:NM_001364701:exon15:c.1807delA:p.T603Lfs*3,KIAA0586:NM_001244190:exon16:c.2017delA:p.T673Lfs*3,KIAA0586:NM_001244192:exon16:c.1930delA:p.T644Lfs*3,KIAA0586:NM_001244189:exon17:c.2221delA:p.T741Lfs*3	Joubert syndrome 23, Autosomal recessive;Short-rib thoracic dysplasia 14 with polydactyly, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	456.45	32	chr14	58465836	.	CA	C	456.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.222;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-2.357;SOR=0.976	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1214	6	0	1	0
chr14	59870504	59870504	G	C	exonic	RTN1	.	nonsynonymous SNV	RTN1:NM_021136:exon1:c.C127G:p.Q43E	.	412	1109	0	1	0	2	0.000900901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0588604148834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.645	0.06859	T	0.039	0.21116	B	0.009	0.14300	B	0.101351	0.02550	U	2.306010	1	0.08975	N	1.355	0.33814	L	1.7	0.26885	T	-0.03	0.07444	N	0.086	0.06322	-1.0252	0.22017	T	0.040	0.17404	T	10	0.07765719	0.12281	T	0.05886	0.67466	D	0.033	0.08068	0.1	0.01484	0.082315109003	0.07666	0.07646811690165055	0.07582	0.119333337301	0.13438	0.608658134937	0.54125	T	0.004939	0.04364	T	-0.270232	0.11732	T	-0.625946	0.10725	T	0.462695688009262	0.31264	T	0.528747	0.17479	T	0.22062674	0.44622	0.24659105	0.50172	0.22062674	0.44622	0.24659105	0.50171	-2.293	0.04517	T	.	.	0.065	0.01960	B	.	.	1.658334	0.21151	15.07	0.98380959594243	0.40853	0.10753	0.16168	N	AEFDGBCI	0.034930	0.04411	N	-0.950715771991309	0.09677	0.4590206	-0.958058264078194	0.10737	0.542665	0.99998187900091	0.51787	0.56387	0.32371	0	0.491552	0.07993	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	3.31	2.37	0.28337	0.927000	0.28418	3.543000	0.39013	0.660000	0.55035	0.148000	0.23625	0.558000	0.25505	0.151000	0.20341	0.0:0.2414:0.7586:0.0	8.434	0.31936	548	0.72362	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	320.63	22	chr14	59870504	.	G	C	320.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.987;DP=177;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=0.25;SOR=0.818	GT:AD:DP:GQ:PL	0/0:30,0:30:81:0,81,969	6	0	1	0
chr14	59870585	59870585	C	G	exonic	RTN1	.	nonsynonymous SNV	RTN1:NM_021136:exon1:c.G46C:p.G16R	.	421	1090	11	0	0	11	0.00502054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	.	0.00978435	0.0231	0	0.0125	0	.	0	0	0.0318	0.001824	282	154602	rs570826259	0.0016	0.0016	0.0009	0.0024	0.0287	0.0016	0.0015	0.0276	0.0272	3.812e-05	0	0	0	0	0.0020	1.061e-05	0.0019	0.0287	0.0012	0.0012	0.0006	0.0018	0.0361	0.0010	0.0010	0.0317	0.0300	2.406e-05	0	0	0	0	0	0	1.471e-05	0.0009	0.0361	0.003	0.68238	D	0.063	0.45110	T	0.435	0.35719	B	0.19	0.36341	B	0.695167	0.06169	U	1.162910	0.999999	0.08975	N	0.55	0.14455	N	1.86	0.24285	T	-0.6	0.17834	N	0.148	0.15046	-0.9714	0.36904	T	0.031	0.13418	T	10	0.0022101104	0.00032	T	.	.	.	0.095	0.27398	0.161	0.06507	.	.	0.15014116825138682	0.14936	0.292628249788	0.31682	0.728659570217	0.71310	T	0.004953	0.04374	T	-0.648119	0.00074	T	-0.683483	0.06773	T	0.161144373725689	0.17955	T	0.467953	0.13790	T	0.14947313	0.34075	0.13359398	0.32032	0.14947313	0.34074	0.13359398	0.32031	-4.453	0.30269	T	.	.	0.164	0.36154	B	.	.	1.704959	0.21711	15.32	0.91291234376307029	0.20551	0.03979	0.09393	N	AEFDGBCI	0.032354	0.03640	N	-1.36847007556495	0.02938	0.1305003	-1.47536513287037	0.02548	0.1173674	0.999999999561284	0.74766	0.437478	0.07067	0	0.491552	0.07993	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.86	-7.72	0.01112	-0.425000	0.07085	-0.022000	0.12912	-1.188000	0.01378	0.027000	0.20232	0.048000	0.21764	0.827000	0.38976	0.2309:0.611:0.0:0.1581	6.362	0.20638	548	0.72362	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002037	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.026316	0.08333	225.27	17	chr14	59870585	.	C	G	225.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.55;DP=157;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.39;ReadPosRankSum=0.522;SOR=0.755	GT:AD:DP:GQ:PL	0/0:31,0:31:93:0,93,884	5	0	1	1
chr14	59928307	59928307	G	A	exonic	LRRC9	.	nonsynonymous SNV	LRRC9:NM_001355272:exon3:c.G88A:p.E30K	.	440	1070	11	1	0	13	0.00603809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00339457	0.0130	0	0.0259	0	0.0126	0.0240	0	0.0036	0.0023092	357	154602	rs145698407	0.0113	0.0098	0.0114	0.0112	0.0154	0.0111	0.0110	0.0141	0.0139	0.0019	0.0069	0.0203	0	0.0110	0.0154	0.0144	0.0118	0.0010	0.0096	0.0097	0.0099	0.0094	0.0135	0.0092	0.0091	0.0128	0.0125	0.0026	0.0286	0.0112	0.0216	0	0.0125	0.0034	0.0135	0.0118	0.0014	0.175	0.22400	T	0.326	0.30926	T	.	.	.	.	.	.	.	.	.	.	0.974766	0.25472	N	.	.	.	2.15	0.19311	T	-1.09	0.28290	N	0.345	0.38643	.	.	.	.	.	.	.	0.0069488883	0.00158	T	.	.	.	.	.	.	.	0.301122078929	0.29733	0.5692649983021691	0.56854	.	.	.	.	.	0.004528	0.03938	T	-0.575088	0.00206	T	-0.585225	0.14082	T	.	.	.	0.750125	0.37153	T	0.08694563	0.20227	0.11374232	0.27452	0.08694563	0.20226	0.11374232	0.27451	-2.649	0.06885	T	.	.	0.103	0.18497	B	.;.;.	.;.;.	2.475411	0.31911	18.88	0.99544459118472972	0.70711	0.77618	0.38184	D	AEFI	0.243605	0.36485	N	.	.	.	.	.	.	2.89881993570851E-4	0.06355	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	3.41	0.38145	2.770000	0.47346	3.649000	0.39371	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.768000	0.36443	0.0765:0.1403:0.7832:0.0	9.981	0.40982	506	0.75555	.;.;.	.	.	.	.	rs145698407	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	290.44	18	chr14	59928307	.	G	A	290.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.568;DP=198;ExcessHet=0;FS=2.251;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.14;ReadPosRankSum=-0.77;SOR=0.19	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1307	6	0	1	0
chr14	61736998	61736998	T	C	exonic	HIF1A	.	nonsynonymous SNV	HIF1A:NM_001243084:exon9:c.T1210C:p.S404P,HIF1A:NM_001530:exon9:c.T1138C:p.S380P,HIF1A:NM_181054:exon9:c.T1138C:p.S380P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00625667836105	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.31682	T	0.279	0.24767	T	0.0	0.07471	B	0.002	0.06944	B	0.362402	0.13650	N	0.734063	0.991402	0.42423	D	0.875	0.21512	L	0.65	0.54911	T	-0.57	0.23590	N	0.088	0.06720	-1.0804	0.07272	T	0.057	0.23942	T	10	0.076348245	0.11915	T	0.006257	0.16435	T	0.064	0.18567	0.266	0.21261	0.5079345304	0.50432	0.3332452492065612	0.33237	0.907955905498	0.70923	0.533381700516	0.43511	T	0.353129	0.72046	T	-0.140284	0.29845	T	-0.439285	0.28888	T	0.146519106044101	0.16823	T	0.683732	0.29211	T	0.0709419	0.15668	0.086992964	0.20193	0.0709419	0.15667	0.086992964	0.20192	-2.393	0.06556	T	.	.	0.074	0.04889	B	.;.;.;.;.	.;.;.;.;.	3.309257	0.45468	22.1	0.99147781314612116	0.53709	0.48375	0.28193	N	AEFDGBIJ	0.132537	0.25187	N	-0.527763787653053	0.21187	1.122514	-0.334368158743218	0.26997	1.494998	0.999638679390448	0.41205	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.85	0.499	0.16119	1.609000	0.36469	2.373000	0.32441	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.3196:0.2265:0.0:0.4539	3.144	0.06078	676	0.60355	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1772.44	35	chr14	61736998	.	T	C	1772.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.121;DP=313;ExcessHet=0;FS=0.648;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=-1.078;SOR=0.588	GT:AD:DP:GQ:PL	0/1:59,74:133:99:1783,0,1330	6	0	1	0
chr14	61740857	61740857	G	A	exonic	HIF1A	.	nonsynonymous SNV	HIF1A:NM_001243084:exon12:c.G1834A:p.A612T,HIF1A:NM_001530:exon12:c.G1762A:p.A588T,HIF1A:NM_181054:exon12:c.G1762A:p.A588T	.	423	1095	3	1	0	5	0.0022779	.	.	.	2844278	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.036	.	0.0061	0.00898562	0.0097	0.0013	0.0010	0.0391	0.0174	0.0101	0.0055	0.0017	0.0089391	1382	154602	rs11549467	0.0079	0.0079	0.0077	0.0080	0.0416	0.0078	0.0077	0.0399	0.0392	0.0008	0.0014	0.0049	0.0416	0.0166	0.0012	0.0074	0.0065	0.0018	0.0074	0.0074	0.0069	0.0078	0.0398	0.0070	0.0069	0.0353	0.0336	0.0011	0	0.0015	0.0058	0.0398	0.0160	0.0034	0.0094	0.0038	0.0017	0.373	0.17761	T	0.622	0.15010	T	0.0	0.02946	B	0.001	0.04355	B	0.096302	0.02504	N	1.805430	1	0.08975	N	-0.695	0.01866	N	0.9	0.45248	T	-0.16	0.11728	N	0.03	0.00882	-1.0768	0.07983	T	0.013	0.05177	T	10	0.0013724267	0.00015	T	.	.	.	0.036	0.09122	.	.	0.243187853663	0.23924	0.06853689616802514	0.06791	0.116913824884	0.13183	0.289541661739	0.08855	T	0.317837	0.68926	T	-0.738309	0.00021	T	-0.790812	0.02142	T	0.0023407958452407	0.00024	T	0.731327	0.34690	T	0.03326054	0.03508	0.03746933	0.03407	0.03326054	0.03508	0.03746933	0.03407	-3.478	0.16125	T	.	.	0.065	0.03336	B	.;.;.;.;.	.;.;.;.;.	-0.079541	0.03764	0.786	0.80251036502772854	0.13115	0.13353	0.17808	N	AEFDGBCI	0.140323	0.26219	N	-1.47577593740174	0.02022	0.08885738	-1.48000398441308	0.02509	0.1154857	0.999999999999117	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.51	-9.51	0.00489	-1.255000	0.02981	-0.180000	0.11141	-0.201000	0.08892	0.000000	0.06391	0.022000	0.20871	0.940000	0.48062	0.1653:0.0745:0.2916:0.4686	3.296	0.06555	682	0.59757	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.007576	0.1429	218.21	35	chr14	61740857	.	G	A	218.21	.	AC=2;AF=0.143;AN=14;DP=221;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=24.25;SOR=0.892	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	1	0	0
chr14	63599753	63599753	G	A	exonic	WDR89	.	stopgain	WDR89:NM_001258272:exon3:c.C190T:p.R64X,WDR89:NM_080666:exon3:c.C190T:p.R64X,WDR89:NM_001008726:exon4:c.C190T:p.R64X,WDR89:NM_001382423:exon4:c.C190T:p.R64X,WDR89:NM_001382424:exon4:c.C190T:p.R64X,WDR89:NM_001382425:exon4:c.C190T:p.R64X,WDR89:NM_001382426:exon4:c.C190T:p.R64X,WDR89:NM_001382427:exon4:c.C190T:p.R64X,WDR89:NM_001382428:exon5:c.C190T:p.R64X,WDR89:NM_001382429:exon5:c.C190T:p.R64X	.	430	1077	15	0	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.655e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs200681506	8.895e-06	3.831e-05	1.225e-05	5.502e-06	2.319e-05	4.96e-06	3.83e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	5.396e-06	8.281e-05	2.319e-05	0.0002	0.0074	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0001	0.0003	0	0.0004	0	0	0.0003	0	0.0001	0.0015	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000463	0.44119	D	0.194702	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.144	0.27435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481121	0.93742	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive;.	High;.;High;.	7.339368	0.96413	36	0.99756467363359924	0.84694	0.94639	0.61825	D	AEFGBI	0.098617	0.19868	N	0.909272293390907	0.92206	11.29225	0.757728745137247	0.86734	8.984897	0.999972014400061	0.50053	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.63	4.69	0.58546	2.909000	0.48456	5.651000	0.49183	-0.680000	0.04236	1.000000	0.71638	0.992000	0.31684	0.036000	0.13842	0.0:0.0:0.8692:0.1308	16.526	0.84179	854	0.34840	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	60.44	34	chr14	63599753	.	G	A	60.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.09;DP=293;ExcessHet=0;FS=1.718;MLEAC=1;MLEAF=0.071;MQ=58.81;MQRankSum=-7.268;QD=0.92;ReadPosRankSum=0.209;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:66,0:66:99:.:.:0,120,1800:.	6	0	1	0
chr14	63599773	63599773	T	C	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.A170G:p.K57R,WDR89:NM_080666:exon3:c.A170G:p.K57R,WDR89:NM_001008726:exon4:c.A170G:p.K57R,WDR89:NM_001382423:exon4:c.A170G:p.K57R,WDR89:NM_001382424:exon4:c.A170G:p.K57R,WDR89:NM_001382425:exon4:c.A170G:p.K57R,WDR89:NM_001382426:exon4:c.A170G:p.K57R,WDR89:NM_001382427:exon4:c.A170G:p.K57R,WDR89:NM_001382428:exon5:c.A170G:p.K57R,WDR89:NM_001382429:exon5:c.A170G:p.K57R	.	431	1085	6	0	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00510807500172	.	.	.	.	.	.	.	.	.	.	.	.	.	rs901666396	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	2.002e-05	0.0027	2.605e-05	1.368e-05	6.652e-05	5.32e-06	2.48e-06	.	.	2.461e-05	0	6.652e-05	0	0	9.59e-05	0	0	0	0	0.517	0.07330	T	0.721	0.05327	T	0.034	0.20480	B	0.01	0.14941	B	0.000180	0.48594	D	0.205247	0.703363	0.30082	N	2.155	0.60227	M	-0.15	0.65192	T	-0.35	0.12847	N	0.075	0.07262	-0.9571	0.39717	T	0.113	0.40307	T	10	0.12324116	0.23392	T	0.005108	0.12970	T	0.081	0.23632	0.535	0.64439	0.656961720716	0.65409	0.3911789445950797	0.39032	0.0940757242982	0.10619	0.339419215918	0.16351	T	0.023761	0.18078	T	-0.115425	0.33875	T	-0.403576	0.32968	T	0.191546842455864	0.19936	T	0.781422	0.41649	T	0.028487818	0.02194	0.034389522	0.02497	0.028487818	0.02194	0.034389522	0.02497	-3.76	0.20208	T	.	.	0.074	0.11317	B	.;.;.;.	.;.;.;.	1.968509	0.25009	16.61	0.87872483150214187	0.17544	0.82077	0.41361	D	AEFGBI	0.141147	0.26325	N	-0.238387938740899	0.31569	1.771506	-0.00565315919314946	0.39460	2.339944	0.999533698633903	0.40238	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.63	5.63	0.86108	1.604000	0.36415	4.239000	0.42696	-0.665000	0.04339	1.000000	0.71638	1.000000	0.68203	0.855000	0.40485	0.0:0.1114:0.0:0.8886	8.743	0.33732	854	0.34840	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	33.44	34	chr14	63599773	.	T	C	33.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.59;DP=285;ExcessHet=0;FS=4.501;MLEAC=1;MLEAF=0.071;MQ=58.97;MQRankSum=-7.644;QD=0.56;ReadPosRankSum=-2.06;SOR=1.972	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:66,0:66:99:.:.:0,120,1800:.	6	0	1	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T,SYNE2:NM_182914:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	1374.13	79	chr14	64158707	.	T	C	1374.13	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.054;DP=715;ExcessHet=4.7409;FS=173.002;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=3.05;ReadPosRankSum=1.38;SOR=10.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:109,37:146:99:.:.:498,0,3023:.	2	0	5	0
chr14	64158708	64158708	G	A	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.G15876A:p.M5292I,SYNE2:NM_182914:exon86:c.G15876A:p.M5292I	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2288662	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.077	0.00845025875398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.45039	D	0.033	0.53072	D	0.325	0.33132	B	0.108	0.31289	B	0.041119	0.23984	N	0.401918	1	0.81001	D	2.35	0.67516	M	1.39	0.33842	T	-1.61	0.43524	N	0.431	0.49965	-1.0717	0.09043	T	0.088	0.33968	T	10	0.25304455	0.42666	T	0.00845	0.22357	T	0.077	0.22490	0.515	0.61459	0.404034981753	0.40020	0.2659272823830213	0.26505	0.0746054716563	0.08373	0.455664932728	0.32718	T	0.114551	0.49765	T	-0.102013	0.36092	T	-0.384311	0.35217	T	0.684482932090759	0.39994	D	0.879912	0.59649	D	0.19624485	0.41445	0.17938405	0.40669	0.19624485	0.41444	0.17938405	0.40668	-3.183	0.12274	T	.	.	0.388	0.58884	A	.;.;.;.;.	.;.;.;.;.	2.504241	0.32334	19.01	0.96935941736678333	0.31676	0.86357	0.45621	D	AEFGBI	0.264582	0.38189	N	-0.124265557851592	0.36337	2.099065	-0.0236316895668092	0.38649	2.280163	0.900501724960891	0.26077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	4.86	0.62624	4.416000	0.59567	4.462000	0.43463	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8511:0.1489	14.318	0.66020	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1271.28	79	chr14	64158708	.	G	A	1271.28	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-4.023;DP=596;ExcessHet=4.7409;FS=185.58;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=2.83;ReadPosRankSum=-0.124;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:110,29:144:99:.:.:421,0,3063:.	3	0	4	0
chr14	64158708	64158708	G	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.G15876C:p.M5292I,SYNE2:NM_182914:exon86:c.G15876C:p.M5292I	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0083565949609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.45039	D	0.033	0.53072	D	0.325	0.33132	B	0.108	0.31289	B	0.041119	0.23984	N	0.401918	1	0.81001	D	2.35	0.67516	M	1.39	0.33842	T	-1.61	0.43524	N	0.431	0.49965	-1.0717	0.09043	T	0.088	0.33968	T	10	0.2520115	0.42548	T	0.008357	0.22130	T	0.077	0.22490	0.515	0.61459	0.404034981753	0.40020	0.26592724106991794	0.26505	0.0746054716563	0.08373	0.455664932728	0.32718	T	0.114551	0.49765	T	-0.102008	0.36092	T	-0.384304	0.35219	T	0.651877224445343	0.38542	D	0.879912	0.59649	D	0.19624485	0.41445	0.17938405	0.40669	0.19624485	0.41444	0.17938405	0.40668	-3.183	0.12274	T	.	.	0.388	0.58884	A	.;.;.;.;.	.;.;.;.;.	2.298733	0.29410	18.11	0.97187594042519665	0.32749	0.88851	0.48981	D	AEFGBI	0.256398	0.37533	N	-0.124265557851592	0.36337	2.099065	-0.0236316895668092	0.38649	2.280163	0.900501724960891	0.26077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	4.86	0.62624	4.416000	0.59567	4.462000	0.43463	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8511:0.1489	14.318	0.66020	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1271.28	79	chr14	64158708	.	G	C	1271.28	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.023;DP=596;ExcessHet=4.7409;FS=185.58;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.83;ReadPosRankSum=-0.124;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:110,5:144:99:.:.:421,241,3316:.	6	0	1	0
chr14	64468680	64468680	A	C	exonic	AKAP5	.	nonsynonymous SNV	AKAP5:NM_004857:exon2:c.A286C:p.K96Q	.	429	1089	4	0	0	4	0.00183318	.	.	.	3266623	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.0167935807874	.	.	8.318e-06	0	0	0	0	0	0	6.075e-05	6.5e-06	1	154602	rs748640939	6.157e-06	6.156e-06	5.445e-06	6.876e-06	0.0010	2.9e-06	2.1e-06	0.0005	0.0003	0	0	0	0	0	0.0010	1.799e-06	0	1.159e-05	1.971e-05	1.97e-05	3.853e-05	0	4.409e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.129	0.26852	T	0.208	0.26883	T	0.916	0.50672	P	0.49	0.47330	P	0.008712	0.30705	N	0.226256	1	0.81001	D	2.045	0.56016	M	0.82	0.48142	T	-2.12	0.48184	N	0.221	0.24758	-1.0479	0.14988	T	0.096	0.36133	T	10	0.24865171	0.42165	T	0.016794	0.38210	T	0.059	0.16972	0.36	0.36385	0.820539480482	0.81884	0.055661323220693525	0.05507	0.752588168711	0.63847	0.324133396149	0.14046	T	0.406489	0.76237	T	-0.221754	0.17756	T	-0.455681	0.27070	T	0.377726644277573	0.28095	T	0.607939	0.22935	T	0.24879816	0.47870	0.12459999	0.30031	0.24879816	0.47870	0.12459999	0.30030	-3.75	0.20059	T	.	.	0.129	0.29311	B	.;.	.;.	2.770949	0.36375	20.2	0.98079137578421383	0.38094	0.46466	0.27766	N	AEFDGBI	0.074649	0.14969	N	-0.240208054082362	0.31496	1.766635	-0.298677328052469	0.28143	1.566768	0.999984314361247	0.51787	0.653281	0.48532	0	0.659037	0.61890	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.58	3.16	0.35406	0.733000	0.25754	6.132000	0.53930	0.756000	0.94297	0.680000	0.28438	1.000000	0.68203	0.049000	0.15107	0.7626:0.1601:0.0773:0.0	7.143	0.24743	399	0.82780	Protein kinase A anchoring, WSK motif;Protein kinase A anchoring, WSK motif	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1186.27	34	chr14	64468680	.	A	C	1186.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.6;DP=248;ExcessHet=0;FS=7.461;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=-1.322;SOR=1.034	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1015	5	0	1	1
chr14	64487711	64487711	T	C	exonic	ZBTB25	.	nonsynonymous SNV	ZBTB25:NM_001354683:exon3:c.A520G:p.I174V,ZBTB25:NM_006977:exon3:c.A520G:p.I174V,ZBTB25:NM_001354682:exon4:c.A637G:p.I213V,ZBTB25:NM_001354684:exon4:c.A520G:p.I174V,ZBTB25:NM_001354687:exon4:c.A520G:p.I174V,ZBTB25:NM_001354685:exon5:c.A520G:p.I174V,ZBTB25:NM_001304507:exon6:c.A520G:p.I174V,ZBTB25:NM_001354686:exon6:c.A520G:p.I174V	.	430	1088	4	0	0	4	0.00183486	.	.	.	2431964	not_specified|ZBTB25-related_disorder	MedGen:CN169374|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.085	0.00552907902172	0.0003	0.000199681	0.0002	0	8.645e-05	0	0	0.0004	0.0022	0	0.000207	32	154602	rs145365297	0.0002	0.0002	0.0002	0.0001	0.0014	0.0001	0.0001	0.0007	0.0005	2.99e-05	0.0001	0.0048	0	0	0.0014	5.127e-05	0.0005	0	0.0001	0.0001	0.0001	0.0001	5.883e-05	7.092e-05	5.748e-05	1.973e-05	1.125e-05	2.408e-05	0	0	0.0035	0	0	0	5.883e-05	0	0	0.583	0.05936	T	0.794	0.04142	T	0.274	0.31856	B	0.069	0.27757	B	0.000005	0.62929	D	0.142974	0.990253	0.81001	D	2.135	0.59519	M	2.04	0.20808	T	0.07	0.06138	N	0.148	0.32259	-1.0585	0.12134	T	0.036	0.15509	T	10	0.008193225	0.00186	T	0.005529	0.14258	T	0.085	0.24743	.	.	0.27479166964	0.27093	0.08553152323367685	0.08487	0.101844781819	0.11526	0.393193513155	0.24119	T	0.010026	0.09088	T	-0.370422	0.03572	T	-0.514816	0.20821	T	0.0640436127250503	0.07789	T	0.810819	0.46223	T	0.032563902	0.03305	0.07564778	0.16675	0.032563902	0.03305	0.07564778	0.16674	-1.968	0.03062	T	.	.	0.096	0.15341	B	.;.	.;.	2.453419	0.31592	18.79	0.89826814801461852	0.19136	0.88913	0.49076	D	AEFGBHI	.	.	.	-0.0593581878046551	0.39185	2.306782	0.155892702353315	0.47454	2.975484	0.999935330366907	0.46732	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.491896	0.07777	0	.	.	6.04	6.04	0.98025	4.436000	0.59691	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.576	0.84499	371	0.84287	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.1429	56.0	33	chr14	64487711	.	T	C	56.0	.	AC=2;AF=0.143;AN=14;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=18.67;SOR=1.179	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1231	6	1	0	0
chr14	64487965	64487965	A	G	exonic	ZBTB25	.	nonsynonymous SNV	ZBTB25:NM_001354683:exon3:c.T266C:p.I89T,ZBTB25:NM_006977:exon3:c.T266C:p.I89T,ZBTB25:NM_001354682:exon4:c.T383C:p.I128T,ZBTB25:NM_001354684:exon4:c.T266C:p.I89T,ZBTB25:NM_001354687:exon4:c.T266C:p.I89T,ZBTB25:NM_001354685:exon5:c.T266C:p.I89T,ZBTB25:NM_001304507:exon6:c.T266C:p.I89T,ZBTB25:NM_001354686:exon6:c.T266C:p.I89T	.	435	1079	8	0	0	8	0.00369344	.	.	.	3191457	ZBTB25-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.050	.	0.0006	0.0207668	0.0122	0.0011	0.0801	0.0551	0	0.0004	0.0132	0.0017	0.0117334	1814	154602	rs61742301	0.0048	0.0048	0.0051	0.0044	0.0703	0.0047	0.0046	0.0683	0.0674	0.0007	0.0703	0.0017	0.0694	0.0001	0.0005	0.0004	0.0062	0.0023	0.0065	0.0065	0.0061	0.0069	0.0553	0.0062	0.0060	0.0501	0.0480	0.0008	0	0.0387	0.0006	0.0553	0.0002	0.0034	0.0004	0.0114	0.0044	0.402	0.10412	T	0.74	0.04982	T	0.0	0.02946	B	0.0	0.01387	B	0.017907	0.27608	N	0.464271	1	0.81001	D	-0.13	0.04535	N	-0.17	0.65563	T	0.64	0.02368	N	0.056	0.16864	-1.0758	0.08184	T	0.009	0.03271	T	10	0.0014448166	0.00016	T	.	.	.	0.050	0.13987	.	.	.	.	0.30281557337643705	0.30194	0.092142033829	0.10406	0.409656494856	0.26409	T	0.109887	0.42413	T	-0.537796	0.00345	T	-0.488578	0.23539	T	0.00175813752067324	0.00018	T	0.737626	0.35462	T	0.030307781	0.02671	0.0388179	0.03834	0.030307781	0.02671	0.0388179	0.03833	-4.807	0.34673	T	.	.	0.056	0.00496	B	.;.	.;.	1.130956	0.15173	11.65	0.82194834087480895	0.14067	0.45070	0.27457	N	AEFDGBI	.	.	.	-0.729703419562042	0.15190	0.7633885	-0.533005535422154	0.21258	1.149211	0.440204550643908	0.20447	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.92	0.421	0.15669	1.085000	0.30452	2.913000	0.35519	0.756000	0.94297	0.609000	0.27821	1.000000	0.68203	1.000000	0.97212	0.4002:0.4684:0.1314:0.0	5.959	0.18524	371	0.84287	BTB/POZ domain|BTB/POZ domain;BTB/POZ domain|BTB/POZ domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.008621	0.006098	0.011364	0.07143	2207.44	33	chr14	64487965	.	A	G	2207.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.189;DP=346;ExcessHet=0;FS=1.236;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-2.006;SOR=0.712	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1231	6	0	1	0
chr14	64522966	64522966	A	G	exonic	ZBTB1	.	nonsynonymous SNV	ZBTB1:NM_001123329:exon2:c.A1462G:p.M488V,ZBTB1:NM_014950:exon2:c.A1462G:p.M488V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00337478355686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.32929	T	0.823	0.21678	T	0.028	0.22112	B	0.006	0.17295	B	0.038901	0.24233	N	0.445390	0.733279	0.33742	D	0.695	0.17993	N	2.98	0.09356	T	0.18	0.06253	N	0.296	0.34120	-1.0249	0.22116	T	0.022	0.09513	T	10	0.11892995	0.22496	T	0.003375	0.07542	T	0.104	0.29647	0.283	0.23961	0.533189231367	0.52969	0.4607243487009907	0.45990	.	.	0.54474067688	0.45115	T	0.004107	0.03522	T	-0.0411078	0.45783	T	-0.296825	0.45059	T	0.857756912708282	0.50848	D	0.89941	0.64770	D	0.06971228	0.15296	0.09648442	0.22926	0.06971228	0.15295	0.09648442	0.22926	-3.062	0.10865	T	.	.	0.086	0.16626	B	.;.	.;.	2.351986	0.30154	18.35	0.94761002276769701	0.25472	0.98224	0.80693	D	AEGBI	0.681840	0.64506	D	-0.0391440844410332	0.40088	2.374863	0.188444805789952	0.49214	3.12725	0.999999992457274	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	4.921000	0.63096	11.312000	0.92460	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.129	0.72184	353	0.85335	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	837.49	35	chr14	64522966	.	A	G	837.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.129;DP=288;ExcessHet=0;FS=2.952;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=1;SOR=0.48	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	6	0	1	0
chr14	64786960	64786960	C	T	exonic	SPTB	.	nonsynonymous SNV	SPTB:NM_001024858:exon15:c.G3005A:p.R1002H,SPTB:NM_001355436:exon16:c.G3005A:p.R1002H,SPTB:NM_001355437:exon16:c.G3005A:p.R1002H	Anemia, neonatal hemolytic, fatal and near-fatal (3);Elliptocytosis-3 (3);Spherocytosis, type 2, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	2359472	Hereditary_spherocytosis_type_2|Inborn_genetic_diseases	MONDO:MONDO:0000913,MedGen:C2674219,OMIM:616649,Orphanet:822|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.255	0.063785773078	.	.	8.244e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs780815297	1.916e-05	1.984e-05	1.225e-05	2.613e-05	0.0003	1.328e-05	1.144e-05	6.092e-05	2.521e-05	0	0	3.826e-05	0	0	0.0003	1.259e-05	8.279e-05	6.956e-05	2.628e-05	3.283e-05	3.853e-05	1.345e-05	0.0001	8.14e-06	5.14e-06	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0.0010	0	0.008	0.59928	D	0.021	0.58089	D	0.466	0.36465	P	0.347	0.42698	B	0.000001	0.62929	N	0.055862	0.999958	0.52396	D	2.51	0.73131	M	0.71	0.51228	T	-3.84	0.74193	D	0.492	0.52563	-0.6599	0.62280	T	0.191	0.54301	T	10	0.52769387	0.63004	D	0.063786	0.69075	D	0.255	0.56562	0.441	0.49648	0.63568515825	0.63269	0.5151196180972656	0.51434	0.346443160718	0.36549	0.529669880867	0.42988	T	0.631572	0.88588	D	-0.14952	0.28387	T	-0.271024	0.47716	T	0.825243532657623	0.48165	D	0.939106	0.77081	D	0.3277793	0.55289	0.24986507	0.50567	0.3277793	0.55289	0.24986507	0.50566	-6.334	0.48991	T	0.7692014804704723	0.85034	0.191	0.41047	B	.;.;.;.;.	.;.;.;.;.	4.258599	0.64698	24.7	0.99883087972797924	0.95892	0.98802	0.87042	D	AEFDGBI	0.819815	0.74075	D	0.33431430606589	0.57917	3.961171	0.337305038824625	0.57746	3.94157	0.999999772358059	0.74766	0.615755	0.39536	0	0.59043	0.45803	0	0.602189	0.34648	0	0.526803	0.08958	0	.	.	4.89	4.0	0.45673	6.163000	0.71702	4.928000	0.46104	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.386000	0.26469	0.0:0.9161:0.0:0.0839	12.443	0.54975	464	0.78488	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1671.44	125	chr14	64786960	.	C	T	1671.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.5;DP=327;ExcessHet=0;FS=4.3;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=0.953;SOR=0.696	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1159	6	0	1	0
chr14	66681128	66681128	A	G	exonic	GPHN	.	nonsynonymous SNV	GPHN:NM_001024218:exon2:c.A86G:p.N29S,GPHN:NM_001377514:exon2:c.A86G:p.N29S,GPHN:NM_001377515:exon2:c.A86G:p.N29S,GPHN:NM_001377516:exon2:c.A86G:p.N29S,GPHN:NM_001377517:exon2:c.A86G:p.N29S,GPHN:NM_001377518:exon2:c.A86G:p.N29S,GPHN:NM_001377519:exon2:c.A86G:p.N29S,GPHN:NM_020806:exon2:c.A86G:p.N29S	Molybdenum cofactor deficiency C	21	1498	2	1	0	4	0.00133333	.	.	.	528323	Inborn_genetic_diseases|Sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_C|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014212,MedGen:C1854990,OMIM:615501,Orphanet:308400,Orphanet:833|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.353	0.0526138235332	7.7e-05	.	9.139e-05	0	0.0003	0	0	0.0001	0	6.078e-05	7.12e-05	11	154602	rs144247888	6.097e-05	6.362e-05	6.077e-05	6.116e-05	0.0006	5.024e-05	4.685e-05	0.0002	8.479e-05	3.045e-05	8.952e-05	0	2.533e-05	0	0.0006	6.109e-05	0.0002	3.496e-05	6.574e-05	6.568e-05	7.711e-05	5.383e-05	0.0001	3.518e-05	2.617e-05	6.807e-05	5.089e-05	2.414e-05	0	0	0	0	0	0	0.0001	0	0	0.184	0.43085	T	0.465	0.36365	T	0.248	0.53072	B	0.438	0.64047	B	0.000000	0.84330	D	0.000000	0.999273	0.81001	D	0.4	0.12274	N	-1.02	0.76300	T	-1.35	0.39119	N	0.793	0.80180	-0.3669	0.73056	T	0.367	0.72712	T	10	0.61218137	0.67506	D	0.052614	0.65141	D	0.353	0.67418	.	.	0.72538121087	0.72295	0.49290651260588103	0.49211	1.38065135197	0.84769	0.775062918663	0.78184	T	0.490282	0.81514	T	-0.206582	0.19863	T	-0.308815	0.43785	T	0.316590964794159	0.25683	T	0.932107	0.76420	D	0.32512578	0.55069	0.23285916	0.48458	0.32512578	0.55069	0.23285916	0.48457	-7.077	0.54595	T	0.15152657662892952	0.17883	0.166	0.54146	B	.;.;.;.	.;.;.;.	4.774765	0.77330	26.7	0.99138770012916644	0.53464	0.96558	0.69741	D	AEFBI	0.894378	0.83329	D	0.237224559343401	0.53010	3.472004	0.365614382876398	0.59453	4.123351	0.95762640559479	0.28315	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.11	5.11	0.69188	8.587000	0.90596	11.061000	0.85440	0.677000	0.82338	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	12.835	0.57152	510	0.75209	MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain;.;MoaB/Mog domain|MoaB/Mog domain;MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain|MoaB/Mog domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	283.27	21	chr14	66681128	.	A	G	283.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.783;DP=120;ExcessHet=0;FS=7.025;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-1.553;SOR=1.718	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,495	5	0	1	1
chr14	69209598	69209598	C	T	exonic	EXD2	.	nonsynonymous SNV	EXD2:NM_001193361:exon2:c.C128T:p.P43L,EXD2:NM_001193363:exon2:c.C128T:p.P43L,EXD2:NM_001193360:exon3:c.C128T:p.P43L,EXD2:NM_001193362:exon3:c.C128T:p.P43L	.	436	1076	10	0	0	10	0.00462535	.	.	.	2275994	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.072	0.0094930447176	.	.	6.05e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs752389207	9.654e-05	9.235e-05	9.596e-05	9.715e-05	0.0023	8.319e-05	7.769e-05	0.0013	0.0011	3.165e-05	0.0015	0	0	0	0.0023	3.707e-05	0.0003	0.0001	6.575e-05	6.567e-05	8.996e-05	4.039e-05	0.0003	3.519e-05	2.618e-05	0.0001	8.299e-05	2.415e-05	0	0.0003	0	0	0	0	5.881e-05	0	0	0.142	0.25457	T	0.336	0.18232	T	.	.	.	.	.	.	.	.	.	.	0.999993	0.08975	N	1.61	0.41143	L	-0.91	0.75001	T	-0.48	0.15379	N	0.094	0.07398	-1.0010	0.29631	T	0.158	0.49161	T	9	0.018281192	0.00396	T	0.009493	0.24855	T	0.072	0.21020	.	.	0.230578612272	0.22657	0.20792532397666824	0.20708	0.157749596145	0.17814	0.216754704714	0.01131	T	0.007317	0.06733	T	-0.499425	0.00576	T	-0.525544	0.19735	T	0.00205012292896989	0.00021	T	0.548145	0.18826	T	0.021765577	0.00797	0.022354342	0.00262	0.021765577	0.00797	0.022354342	0.00262	-3.387	0.14882	T	.	.	0.074	0.05017	B	.;.	.;.	-0.334824	0.02468	0.285	0.58285173748377239	0.05958	0.01800	0.05617	N	AEFGBI	0.033934	0.04114	N	-1.45190806788078	0.02202	0.09695731	-1.52888029519639	0.02125	0.09725158	0.978065255339809	0.29883	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	4.9	-6.18	0.01906	-1.773000	0.01883	0.211000	0.15962	-0.136000	0.12710	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.2605:0.4907:0.1567:0.0921	4.093	0.09451	865	0.32612	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	749.63	33	chr14	69209598	.	C	T	749.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.755;DP=240;ExcessHet=0;FS=0.971;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=0.16;SOR=0.507	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1153	6	0	1	0
chr14	69572446	69572446	G	C	exonic	CCDC177	.	nonsynonymous SNV	CCDC177:NM_001271507:exon2:c.C1177G:p.R393G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236986995359	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1332448329	5.569e-06	4.104e-06	5.275e-06	5.897e-06	0.0001	2e-06	1.32e-06	3.6e-07	1.4e-07	4.381e-05	0.0001	0	0	0	0	2.177e-06	4.598e-05	0	1.317e-05	1.313e-05	2.578e-05	0	4.819e-05	2.19e-06	8.2e-07	7.99e-06	2.99e-06	4.819e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.975	0.24501	L	1.62	0.28189	T	.	.	.	0.238	0.26837	.	.	.	.	.	.	.	0.18625158	0.34081	T	0.236987	0.88524	D	.	.	.	.	0.54351673446	0.54005	0.039931400418083095	0.03939	.	.	0.922233521938	0.98489	D	0.039806	0.25315	T	-0.21067	0.19284	T	-0.540389	0.18257	T	.	.	.	0.549745	0.18930	T	0.124829285	0.29278	0.27792037	0.53748	0.124829285	0.29278	0.27792037	0.53747	-6.376	0.49322	T	.	.	0.176	0.38552	B	.	.	2.901980	0.38468	20.7	0.40394992024458909	0.02848	0.33573	0.24860	N	AEFDGBHCI	0.227677	0.35145	N	.	.	.	.	.	.	0.999688140919835	0.41756	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	3.78	-0.426	0.11700	0.889000	0.27917	4.744000	0.44622	-0.348000	0.05616	0.128000	0.23311	1.000000	0.68203	0.623000	0.31974	0.0737:0.1123:0.4651:0.3489	5.152	0.14344	409	0.82198	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	395.27	9	chr14	69572446	.	G	C	395.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.024;DP=138;ExcessHet=0;FS=1.494;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=0.021;SOR=0.412	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,1019	5	0	1	1
chr14	70459123	70459123	C	T	exonic	ADAM21	.	nonsynonymous SNV	ADAM21:NM_003813:exon2:c.C1624T:p.H542Y	.	439	1074	9	0	0	9	0.00417246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.00658284890745	0.0005	.	0.0013	0	0.0004	0	0	0.0012	0	0.0040	4.53e-05	7	154602	rs141458690	0.0008	0.0008	0.0007	0.0009	0.0069	0.0008	0.0007	0.0052	0.0046	2.994e-05	0.0002	0.0140	0	0	0.0069	0.0003	0.0019	0.0034	0.0008	0.0007	0.0007	0.0008	0.0040	0.0006	0.0006	0.0026	0.0022	2.417e-05	0	0.0003	0.0127	0	0	0.0034	0.0006	0.0014	0.0040	.	.	.	0.007	0.69154	D	0.221	0.30336	B	0.403	0.44588	B	0.017934	0.27603	U	0.166361	0.890572	0.27889	N	2.42	0.70002	M	2.02	0.21119	T	.	.	.	0.348	0.38950	-1.0524	0.13736	T	0.054	0.22921	T	10	0.018537134	0.00404	T	0.006583	0.17358	T	.	.	.	.	0.333906830038	0.33007	0.8016358501670688	0.80117	1.29796164902	0.82946	0.441291153431	0.30754	T	0.263847	0.63557	T	-0.418588	0.01747	T	-0.374887	0.36320	T	0.0693551707666258	0.08560	T	0.934007	0.75281	D	0.36101165	0.57913	0.37836766	0.62916	0.36101165	0.57913	0.37836766	0.62916	-4.615	0.32360	T	.	.	0.138	0.30211	B	.	.	2.710999	0.35433	19.90	0.99694117526092674	0.80180	0.62641	0.31843	D	AEFDGBI	0.167800	0.29451	N	0.0442647284691094	0.43878	2.672324	0.125574187106334	0.45861	2.841877	0.102378308915714	0.16413	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.36	3.39	0.37919	1.650000	0.36908	-0.019000	0.12951	0.436000	0.21017	0.885000	0.31090	0.001000	0.17328	0.983000	0.59808	0.2957:0.601:0.0:0.1033	5.543	0.16336	738	0.53389	ADAM, cysteine-rich|ADAM, cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003205	0.000000	0.008152	0.008264	0.000000	0.000000	0.000000	0.000000	0.07143	308.53	35	chr14	70459123	.	C	T	308.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.84;DP=261;ExcessHet=0;FS=2.71;MLEAC=1;MLEAF=0.071;MQ=44.15;MQRankSum=-2.572;QD=5.14;ReadPosRankSum=-1.965;SOR=1.154	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr14	73251775	73251775	G	A	exonic	PAPLN	.	nonsynonymous SNV	PAPLN:NM_001365907:exon8:c.G782A:p.G261E,PAPLN:NM_173462:exon8:c.G701A:p.G234E,PAPLN:NM_001365906:exon9:c.G782A:p.G261E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.0733793491446	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1433536565	1.302e-05	1.3e-05	9.549e-06	1.654e-05	0.0002	8.33e-06	6.71e-06	5.76e-06	4.55e-06	0	2.271e-05	0	0	0	0.0002	1.08e-05	4.977e-05	2.325e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.007	0.61437	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.999898	0.50595	D	2.185	0.61350	M	-0.06	0.63568	T	-7.02	0.93786	D	0.675	0.68690	-0.2123	0.77353	T	0.391	0.74539	T	9	0.8815023	0.87462	D	0.073379	0.71774	D	0.592	0.83747	.	.	0.643794017197	0.64084	0.5989917592201827	0.59830	0.852657241557	0.68610	0.717287063599	0.69652	T	0.055787	0.30103	T	0.265341	0.80019	D	0.233098	0.84820	D	0.942513883113861	0.61678	D	0.90061	0.65471	D	0.58487433	0.71874	0.59733176	0.76617	0.58487433	0.71875	0.59733176	0.76618	-11.572	0.82704	D	.	.	0.372	0.58546	A	.;.;.;.	.;.;.;.	4.629510	0.73586	26.0	0.99830446136636652	0.91198	0.97608	0.75872	D	AEFDBCI	0.934609	0.92823	D	0.728969479596118	0.81532	7.544273	0.693086033931177	0.81855	7.62499	0.999999999975794	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.622129	0.49086	0	.	.	4.77	4.77	0.60425	9.912000	0.98686	8.495000	0.77341	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.055000	0.15596	0.0:0.0:1.0:0.0	17.413	0.87384	758	0.50837	ADAM-TS Spacer 1;.;ADAM-TS Spacer 1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	387.49	37	chr14	73251775	.	G	A	387.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.327;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-0.34;SOR=0.963	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1090	6	0	1	0
chr14	73514100	73514100	C	T	exonic	HEATR4	.	nonsynonymous SNV	HEATR4:NM_203309:exon5:c.G1345A:p.E449K,HEATR4:NM_001220484:exon6:c.G1345A:p.E449K	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00524578738904	0.0002	0.000399361	0.0002	9.61e-05	0.0002	0	0	0.0002	0.0022	0.0005	0.0001876	29	154602	rs138823359	0.0002	0.0002	0.0002	0.0002	0.0062	0.0002	0.0001	0.0046	0.0041	0	0.0003	0.0008	0	0	0.0062	0.0001	0.0005	0.0004	0.0003	0.0003	0.0002	0.0003	0.0008	0.0002	0.0002	0.0004	0.0003	9.62e-05	0	0.0007	0.0012	0	0	0	0.0002	0.0014	0.0008	0.132	0.26519	T	0.061	0.45530	T	0.11	0.26188	B	0.024	0.20255	B	0.071082	0.21496	N	0.439598	1	0.08975	N	1.975	0.53506	M	1.82	0.25018	T	-0.87	0.23590	N	0.177	0.19055	-1.0369	0.18264	T	0.040	0.17020	T	10	0.023305357	0.00606	T	0.005246	0.13371	T	0.067	0.19503	.	.	0.0401082797425	0.02173	0.4912028566193218	0.49041	0.133712803413	0.15057	0.351421028376	0.18131	T	0.010591	0.09546	T	-0.472828	0.00816	T	-0.57423	0.15064	T	0.0199229771252514	0.00693	T	0.715328	0.32778	T	0.09643127	0.22714	0.076081425	0.16814	0.09643127	0.22714	0.076081425	0.16814	-2.658	0.06957	T	.	.	0.111	0.23077	B	.;.	.;.	1.238026	0.16335	12.47	0.97639163413217311	0.35068	0.06721	0.12742	N	AEFGI	0.061298	0.11708	N	-0.737560374931955	0.14973	0.7505426	-0.730327389583934	0.16207	0.8562703	0.106292926749588	0.16525	0.614807	0.35715	0	0.573888	0.26702	0	0.616094	0.41390	0	0.613276	0.41899	0	.	.	5.78	3.96	0.45097	0.462000	0.21667	1.783000	0.28733	0.599000	0.40250	0.000000	0.06391	0.613000	0.25778	0.002000	0.04165	0.1519:0.6894:0.0:0.1587	5.983	0.18650	277	0.89083	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.004076	0.014620	0.050000	0.000000	0.000000	0.000000	0.07143	1371.53	36	chr14	73514100	.	C	T	1371.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.463;DP=289;ExcessHet=0;FS=3.625;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=0.359;SOR=0.411	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1289	6	0	1	0
chr14	73569856	73569856	G	A	exonic	ACOT2	.	nonsynonymous SNV	ACOT2:NM_001364178:exon1:c.G616A:p.V206M,ACOT2:NM_006821:exon1:c.G616A:p.V206M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.0604984607012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.79402	D	0.991	0.64070	D	0.871	0.61869	P	0.000534	0.43581	D	0.191915	0.94897	0.81001	D	2.49	0.72568	M	0.85	0.47130	T	-1.61	0.38734	N	0.305	0.53708	-0.6073	0.64515	T	0.225	0.58881	T	10	0.26184565	0.43647	T	0.060498	0.68019	D	0.182	0.45420	0.449	0.50957	0.411799315854	0.40795	0.6400651364421701	0.63941	.	.	0.846210122108	0.89041	D	0.025682	0.22294	T	-0.120957	0.32968	T	-0.411523	0.32048	T	0.835512459278107	0.48965	D	0.979102	0.93484	D	0.28042534	0.51090	0.19216102	0.42715	0.28042534	0.51090	0.19216102	0.42714	-8.668	0.65537	D	.	.	0.500	0.64577	A	.;.;.	.;.;.	2.837340	0.37425	20.5	0.9971083659367278	0.81353	0.15443	0.18914	N	ALL	.	.	.	0.163877319324314	0.49471	3.147107	0.00804821866831906	0.40088	2.386897	0.999999999999999	0.74766	0.441713	0.08003	0	0.504199	0.08210	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	3.31	3.31	0.37025	1.030000	0.29760	0.704000	0.20870	0.352000	0.19979	0.593000	0.27690	0.161000	0.23262	0.004000	0.06068	0.1202:0.1925:0.6873:0.0	6.245	0.20023	234	0.90879	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2519.44	40	chr14	73569856	.	G	A	2519.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.732;DP=384;ExcessHet=0;FS=1.846;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=1.25;SOR=0.864	GT:AD:DP:GQ:PL	0/1:79,105:184:99:2530,0,1866	6	0	1	0
chr14	73612782	73612782	A	G	exonic	ACOT6	.	nonsynonymous SNV	ACOT6:NM_001365788:exon1:c.A211G:p.S71G	.	460	214	444	380	24	1228	0.737745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00559105	.	.	.	.	.	.	.	.	0.0083756	218	26028	rs12587206	0.0091	0.0085	0.0090	0.0092	0.0153	0.0089	0.0089	0.0122	0.0115	0.0013	0.0140	0.0183	0	0.0010	0.0153	0.0098	0.0088	0.0035	0.0078	0.0078	0.0079	0.0076	0.0164	0.0074	0.0073	0.0148	0.0141	0.0019	0.0110	0.0164	0.0161	0.0002	0.0006	0.0103	0.0111	0.0100	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008038133	0.00182	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.924308	0.72323	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.33319	B	.	.	4.117408	0.61514	24.3	0.709540416775163	0.09466	0.63410	0.32081	D	ALL	.	.	.	.	.	.	.	.	.	0.999999999999872	0.74766	0.166803	0.03914	0	0.160126	0.03863	0	0.064036	0.01829	0	0.054758	0.00131	0	0.314155	0.35256	3.55	3.55	0.39770	1.853000	0.38998	5.725000	0.49491	0.680000	0.82399	0.955000	0.33325	1.000000	0.68203	0.491000	0.28814	0.7994:0.0:0.2005:0.0	6.141	0.19474	269	0.89438	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1768.34	8	chr14	73612782	.	A	G	1768.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.143;DP=94;ExcessHet=0.0921;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=21.57;ReadPosRankSum=0.669;SOR=0.754	GT:AD:DP:GQ:PL	0/0:0,0:16:48:483,483,483	6	1	0	0
chr14	73862686	73862686	G	T	exonic	PTGR2	.	stopgain	PTGR2:NM_001371335:exon4:c.G187T:p.E63X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	38.05	3	chr14	73862686	.	G	T	38.05	.	AC=2;AF=0.25;AN=8;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;QD=19.03;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	3	1	0	3
chr14	74239929	74239929	C	T	exonic	VSX2	.	nonsynonymous SNV	VSX2:NM_182894:exon1:c.C368T:p.S123L	Microphthalmia with coloboma 3;Microphthalmia, isolated 2	1	1520	1	0	0	1	0.000328839	0.9997	0.94	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524	0.576045237992	.	.	0.0003	0	0	0	0	0.0001	0.0063	0.0004	5.17e-05	8	154602	rs757242912	4.111e-05	4.515e-05	1.402e-05	6.883e-05	0.0006	3.225e-05	2.949e-05	0.0005	0.0005	0	0	0	0	0	0.0005	0	6.85e-05	0.0006	3.282e-05	3.281e-05	0	6.712e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.015	0.52492	D	0.013	0.63109	D	0.997	0.70673	D	0.676	0.53321	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.905	0.50856	L	-2.96	0.91956	D	-3.16	0.64246	D	0.166	0.17553	0.404	0.89152	D	0.711	0.90068	D	10	0.2977357	0.47333	T	0.576045	0.96184	D	0.524	0.79825	0.195	0.10705	0.88667497979	0.88555	0.4907909374364553	0.48999	0.326278888782	0.34779	0.829932570457	0.86551	D	0.677826	0.90507	D	-0.127125	0.31961	T	-0.0445378	0.67393	D	0.29497355222702	0.24796	T	0.826617	0.49005	T	0.45428187	0.64312	0.47148636	0.69357	0.45428187	0.64313	0.47148636	0.69358	-8.081	0.61621	D	0.2820838665103733	0.37754	0.329	0.55145	B	.	.	6.110320	0.94584	34	0.99894052144239576	0.96742	0.98123	0.79794	D	AEFDBCI	0.724833	0.67401	D	0.487570306832843	0.66361	4.940457	0.518935772936936	0.69263	5.335811	0.999999999689802	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	4.65	4.65	0.57626	4.042000	0.57058	7.520000	0.59748	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.472	0.75180	612	0.66786	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	812.65	16	chr14	74239929	.	C	T	812.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.064;DP=151;ExcessHet=0.3476;FS=5.176;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=3.26;SOR=0.275	GT:AD:DP:GQ:PL	0/1:18,16:34:99:327,0,394	5	0	2	0
chr14	74260600	74260600	A	G	exonic	VSX2	.	nonsynonymous SNV	VSX2:NM_182894:exon5:c.A767G:p.H256R	Microphthalmia with coloboma 3;Microphthalmia, isolated 2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.756	0.368702251261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.22	0.62911	M	-3.22	0.93352	D	-7.79	0.95897	D	0.774	0.77132	0.783	0.94206	D	0.843	0.94753	D	10	0.8833517	0.87653	D	0.368702	0.92692	D	0.756	0.91668	0.363	0.36874	0.94806301202	0.94752	0.6880629616102394	0.68746	0.517063166521	0.49585	0.900497615337	0.96496	D	0.800993	0.94926	D	0.287065	0.81912	D	0.174572	0.81679	D	0.999006927013397	0.95858	D	0.831417	0.49863	T	0.9107018	0.92360	0.8661791	0.92603	0.9107018	0.92361	0.8661791	0.92603	-14.381	0.94229	D	0.5525977982605903	0.62105	0.990	0.93663	P	.	.	5.161832	0.86488	28.9	0.99645123194412455	0.76943	0.99224	0.93061	D	AEFDBI	0.895571	0.83573	D	0.63733168458961	0.75552	6.326062	0.591824284882662	0.74350	6.122485	0.999983620575	0.51787	0.516011	0.20929	0	0.610034	0.51514	0	0.59043	0.30614	0	0.613276	0.41899	0	.	.	4.93	3.78	0.42629	8.735000	0.91247	11.161000	0.87651	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9245:0.0:0.0755:0.0	10.672	0.44961	577	0.69927	CVC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	192.49	31	chr14	74260600	.	A	G	192.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.96;DP=193;ExcessHet=0;FS=1.913;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-1.514;SOR=0.33	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1088	6	0	1	0
chr14	74296424	74296424	C	G	exonic	ABCD4	.	nonsynonymous SNV	ABCD4:NM_001353593:exon4:c.G190C:p.E64Q,ABCD4:NM_001353594:exon4:c.G190C:p.E64Q,ABCD4:NM_001353596:exon4:c.G42C:p.W14C,ABCD4:NM_001353597:exon4:c.G42C:p.W14C,ABCD4:NM_001353591:exon5:c.G451C:p.E151Q,ABCD4:NM_001353592:exon5:c.G451C:p.E151Q,ABCD4:NM_001353595:exon5:c.G42C:p.W14C,ABCD4:NM_005050:exon5:c.G451C:p.E151Q,ABCD4:NM_020325:exon5:c.G451C:p.E151Q	Methylmalonic aciduria and homocystinuria, cblJ type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	0.128259757133	.	.	.	.	.	.	.	.	.	.	.	.	.	rs993853239	4.789e-06	4.788e-06	2.723e-06	6.876e-06	2.236e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	2.236e-05	0	0	0	0	4.496e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.115	0.60972	T	0.664	0.41009	P	0.644	0.52249	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-6.35	0.99666	D	-2.13	0.48354	N	0.761	0.75927	-0.1020	0.80052	T	0.440	0.77852	T	10	0.75892925	0.76196	D	0.12826	0.81018	D	0.838	0.94914	0.542	0.65446	0.995578557779	0.99552	0.8162068577933851	0.81576	0.822786036836	0.67253	0.615917563438	0.55151	T	0.356694	0.87552	T	0.352367	0.86661	D	0.35124	0.90365	D	0.949225306510925	0.63067	D	0.965003	0.92442	D	0.68325126	0.77145	0.2856436	0.54569	0.68325126	0.77146	0.2856436	0.54568	-8.295	0.63062	D	.	.	0.763	0.75811	P	.;.	.;.	5.074539	0.84651	28.4	0.9986789593853731	0.94547	0.99331	0.94604	D	AEFBHCI	0.954715	0.97202	D	0.546790798743714	0.69888	5.421259	0.5730270804419	0.73014	5.901473	1.0	0.98316	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.82	4.82	0.61641	7.726000	0.83783	7.623000	0.62394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	18.104	0.89444	477	0.77662	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	269.49	24	chr14	74296424	.	C	G	269.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.301;DP=201;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.7;ReadPosRankSum=0.522;SOR=0.869	GT:AD:DP:GQ:PL	0/1:23,12:35:99:280,0,623	6	0	1	0
chr14	74358253	74358253	C	A	exonic	VRTN	.	nonsynonymous SNV	VRTN:NM_018228:exon2:c.C1470A:p.D490E	.	419	1038	61	4	0	69	0.0321678	.	.	.	714232	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.031	.	0.0028	0.00579073	0.0075	0.0009	0.0057	0.0001	0.0005	0.0060	0.0172	0.0245	0.0063324	979	154602	rs45500395	0.0053	0.0053	0.0045	0.0061	0.0380	0.0052	0.0052	0.0339	0.0323	0.0017	0.0054	0.0246	7.57e-05	0.0005	0.0380	0.0036	0.0069	0.0248	0.0044	0.0044	0.0040	0.0047	0.0251	0.0041	0.0040	0.0214	0.0201	0.0009	0	0.0056	0.0239	0.0002	0.0003	0.0272	0.0045	0.0095	0.0251	0.913	0.02349	T	0.46	0.12597	T	0.0	0.02946	B	0.0	0.01387	B	0.155817	0.17819	N	0.521574	1	0.08975	N	0.55	0.14455	N	1.02	0.40749	T	0.37	0.03639	N	0.017	0.00226	-0.9971	0.30728	T	0.020	0.08500	T	10	0.002757728	0.00043	T	.	.	.	0.031	0.07369	0.093	0.01151	0.043077524339	0.03247	0.20745129742837223	0.20661	0.40891498354	0.41719	0.289120614529	0.08794	T	0.010456	0.09443	T	-0.727529	0.00025	T	-0.798897	0.01930	T	0.00100007721668825	0.00010	T	0.194281	0.02108	T	0.08663903	0.20147	0.026262786	0.00706	0.08663903	0.20146	0.026262786	0.00706	-2.211	0.04094	T	.	.	0.093	0.13876	B	.	.	-2.672347	0.00021	0.001	0.21223961864604715	0.00799	0.04030	0.09467	N	AEFDBCI	0.036499	0.04872	N	-2.07478394950839	0.00145	0.00622438	-2.132926700732	0.00158	0.006943154	0.999999953199564	0.74766	0.722319	0.85440	0	0.59043	0.45803	0	0.698795	0.65105	0	0.542086	0.14980	0	.	.	3.89	-6.98	0.01454	-3.080000	0.00676	-4.396000	0.02178	-0.979000	0.01905	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2059:0.4317:0.1323:0.2301	3.018	0.05698	269	0.89438	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.035247	0.010101	0.036685	0.032164	0.050000	0.034483	0.024390	0.045455	0.07143	703.83	40	chr14	74358253	.	C	A	703.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.869;DP=209;ExcessHet=0;FS=2.906;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.6;ReadPosRankSum=-0.083;SOR=0.293	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	6	0	1	0
chr14	74856817	74856819	TTG	-	exonic	PROX2	.	nonframeshift deletion	PROX2:NM_001080408:exon4:c.909_911del:p.N303del,PROX2:NM_001243007:exon5:c.1590_1592del:p.N530del,PROX2:NM_001384314:exon6:c.1590_1592del:p.N530del	.	9	1511	2	0	0	2	0.000661376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0001	0	0	0	1.501e-05	0.0022	0.0010	0.0001358	21	154602	rs772990067	8.142e-05	8.14e-05	2.723e-05	0.0001	0.0013	6.936e-05	6.488e-05	0.0011	0.0010	0	0	0	0	0	0.0002	2.698e-06	6.626e-05	0.0013	5.91e-05	5.906e-05	1.285e-05	0.0001	0.0017	3.076e-05	2.209e-05	0.0008	0.0006	2.406e-05	0	0	0	0	0	0	0	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.1429	4498.22	34	chr14	74856816	.	CTTG	C	4498.22	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.608;DP=416;ExcessHet=0.3476;FS=2.777;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=17.43;ReadPosRankSum=0.854;SOR=0.542	GT:AD:DP:GQ:PL	0/1:74,71:145:99:2739,0,2884	5	0	2	0
chr14	74904932	74904932	G	T	exonic	RPS6KL1	.	nonsynonymous SNV	RPS6KL1:NM_001370257:exon8:c.C812A:p.T271N,RPS6KL1:NM_001370258:exon8:c.C722A:p.T241N,RPS6KL1:NM_001370252:exon11:c.C1607A:p.T536N,RPS6KL1:NM_001370255:exon11:c.C1012A:p.L338M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	.	.	.	.	.	.	.	.	0.0013447	35	26028	rs189688925	0	6.521e-05	0	0	.	0	0	.	.	.	.	.	0	0	.	0	0	.	0.0013	0.0013	0.0013	0.0012	0.0056	0.0011	0.0011	0.0039	0.0034	0.0002	0.0022	0.0008	0.0084	0.0002	0	0	0.0015	0.0024	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	32.99	.	chr14	74904932	.	G	T	32.99	.	AC=1;AF=0.25;AN=4;BaseQRankSum=0;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	1	0	1	5
chr14	75071558	75071558	G	A	exonic	ZC2HC1C	.	nonsynonymous SNV	ZC2HC1C:NM_001330191:exon2:c.G985A:p.E329K,ZC2HC1C:NM_024643:exon2:c.G985A:p.E329K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	.	0.0038	0.00359425	0.0037	0.0009	0.0064	0	0.0017	0.0051	0.0011	0.0008	0.0036481	564	154602	rs117100576	0.0045	0.0045	0.0047	0.0043	0.0069	0.0044	0.0043	0.0062	0.0060	0.0007	0.0069	0.0018	2.519e-05	0.0021	0.0009	0.0051	0.0047	0.0010	0.0038	0.0038	0.0042	0.0035	0.0058	0.0036	0.0035	0.0053	0.0052	0.0013	0	0.0057	0.0017	0	0.0018	0.0034	0.0058	0.0066	0.0012	0.003	0.68238	D	0.015	0.92824	D	.	.	.	.	.	.	0.001187	0.39899	N	0.166449	0.999244	0.81001	D	1.965	0.53209	M	0.62	0.53302	T	-1.34	0.65972	N	0.511	0.69474	-1.0047	0.28547	T	0.075	0.30272	T	9	0.0050235093	0.00108	T	.	.	.	0.096	0.27654	.	.	0.112648838833	0.10856	0.3052483643247251	0.30437	0.568047790783	0.53036	0.455931127071	0.32754	T	0.021375	0.16659	T	-0.402288	0.02237	T	-0.344944	0.39784	T	0.0168530926675664	0.00438	T	0.748825	0.36981	T	0.09063727	0.21214	0.13139261	0.31552	0.09063727	0.21214	0.13139261	0.31551	-2.808	0.08257	T	.	.	0.239	0.54861	B	.;.	.;.	4.633637	0.73696	26.0	0.99866272659241162	0.94457	0.91136	0.52931	D	AEFDBI	0.372417	0.45807	N	-0.229861592401244	0.31914	1.794364	-0.187765219991681	0.31984	1.815333	0.999998078504067	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.664235	0.64389	0	.	.	4.48	3.59	0.40253	2.747000	0.47151	9.773000	0.81562	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.549000	0.30150	0.0797:0.1444:0.7758:0.0	9.400	0.37589	476	0.77720	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.008621	0.009146	0.000000	0.1429	1502.29	64	chr14	75071558	.	G	A	1502.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.801;DP=282;ExcessHet=0.3476;FS=4.155;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=1.2;SOR=0.417	GT:AD:DP:GQ:PL	0/1:43,28:71:99:697,0,1129	5	0	2	0
chr14	75959291	75959291	C	T	exonic	TGFB3	.	nonsynonymous SNV	TGFB3:NM_003239:exon7:c.G1135A:p.V379M,TGFB3:NM_001329939:exon8:c.G1135A:p.V379M	Arrhythmogenic right ventricular dysplasia 1, Autosomal dominant;Loeys-Dietz syndrome 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	996010	Rienhoff_syndrome|TGFB3-related_disorder|not_provided|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MONDO:MONDO:0014262,MedGen:C3810012,OMIM:615582|.|MedGen:C3661900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.762	0.514348588741	.	.	8.237e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs757031677	7.525e-06	7.524e-06	9.528e-06	5.5e-06	0.0001	4.04e-06	2.95e-06	3.348e-05	1.981e-05	2.987e-05	0	0	0.0001	0	0	4.496e-06	1.656e-05	0	2.631e-05	2.627e-05	2.571e-05	2.693e-05	9.662e-05	8.15e-06	5.14e-06	3.252e-05	1.916e-05	9.662e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.84	0.95699	H	-0.7	0.72785	T	-2.7	0.57599	D	0.684	0.69037	0.697	0.93142	D	0.699	0.89620	D	10	0.8758652	0.86876	D	0.514349	0.95350	D	0.762	0.91920	.	.	0.819143354546	0.81743	0.8033605620653225	0.80290	1.60380208302	0.88742	0.902795553207	0.96743	D	0.967488	0.99621	D	0.0776919	0.61769	D	0.138251	0.79432	D	0.991864085197449	0.82224	D	0.985401	0.94968	D	0.9470301	0.95964	0.84211594	0.90978	0.9470301	0.95964	0.84211594	0.90979	-9.591	0.71424	D	0.7502258630070471	0.83231	0.858	0.80188	P	.	.	5.144299	0.86141	28.8	0.99909040613055844	0.97875	0.97973	0.78548	D	AEFBI	0.856190	0.77339	D	1.03999290879378	0.96848	15.22697	0.944593370149887	0.97240	15.804	0.999999999994441	0.74766	0.632932	0.41330	0	0.596877	0.49441	0	0.601832	0.32385	0	0.635551	0.53088	0	.	.	5.36	5.36	0.76624	7.905000	0.86479	7.723000	0.67399	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	19.094	0.93223	894	0.26265	Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	632.49	60	chr14	75959291	.	C	T	632.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.905;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-0.059;SOR=0.609	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1109	6	0	1	0
chr14	76154637	76154637	A	G	exonic	GPATCH2L	.	nonsynonymous SNV	GPATCH2L:NM_017972:exon1:c.A274G:p.M92V,GPATCH2L:NM_001322026:exon2:c.A274G:p.M92V,GPATCH2L:NM_001322027:exon2:c.A274G:p.M92V,GPATCH2L:NM_001322028:exon2:c.A274G:p.M92V,GPATCH2L:NM_001322029:exon2:c.A274G:p.M92V,GPATCH2L:NM_001322030:exon2:c.A274G:p.M92V,GPATCH2L:NM_001322031:exon2:c.A274G:p.M92V,GPATCH2L:NM_001322032:exon2:c.A274G:p.M92V,GPATCH2L:NM_017926:exon2:c.A274G:p.M92V	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.00344021711396	0.0026	0.000399361	0.0033	0.0004	0.0008	0	0.0094	0.0048	0.0011	0.0006	0.003247	502	154602	rs149688470	0.0034	0.0034	0.0035	0.0032	0.0038	0.0033	0.0032	0.0037	0.0036	0.0004	0.0007	0.0011	0	0.0082	0.0012	0.0038	0.0023	0.0008	0.0027	0.0027	0.0025	0.0028	0.0038	0.0024	0.0024	0.0034	0.0033	0.0007	0	0.0010	0.0014	0	0.0087	0	0.0038	0.0009	0.0006	0.283	0.15354	T	0.168	0.30631	T	0.0	0.02946	B	0.0	0.01387	B	0.063322	0.22033	N	0.495587	1	0.08975	N	0.345	0.11182	N	0.99	0.42122	T	-2.53	0.54864	D	0.036	0.01274	-1.0031	0.29021	T	0.042	0.18035	T	10	0.003522098	0.00063	T	0.00344	0.07755	T	0.068	0.19811	.	.	0.209943299407	0.20609	0.09267352598221008	0.09199	0.266040754253	0.29149	0.266507744789	0.05690	T	0.091796	0.38871	T	-0.648783	0.00074	T	-0.700982	0.05773	T	0.00775653519711406	0.00091	T	0.782022	0.41734	T	0.044192888	0.07020	0.052467126	0.08650	0.044192888	0.07020	0.052467126	0.08650	-0.944	0.00992	T	.	.	0.050	0.00191	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.462952	0.08328	5.076	0.79342636390797827	0.12699	0.10129	0.15720	N	AEFDGBCI	0.047115	0.07899	N	-0.912280551624826	0.10554	0.5048776	-0.793050357247157	0.14666	0.7674522	0.999925499537747	0.46280	0.722319	0.85440	0	0.672317	0.65289	0	0.696144	0.63334	0	0.735409	0.98432	0	.	.	5.37	1.56	0.22423	-0.045000	0.11957	0.231000	0.16190	0.756000	0.94297	0.002000	0.15269	0.000000	0.08366	0.997000	0.79791	0.4464:0.2621:0.2915:0.0	5.206	0.14614	626	0.65439	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	1781.44	33	chr14	76154637	.	A	G	1781.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.009;DP=327;ExcessHet=0;FS=3.883;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.574;SOR=1.018	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1135	6	0	1	0
chr14	78297852	78297852	G	A	exonic	NRXN3	.	nonsynonymous SNV	NRXN3:NM_001330195:exon4:c.G749A:p.S250N,NRXN3:NM_001366425:exon4:c.G749A:p.S250N,NRXN3:NM_001366426:exon4:c.G749A:p.S250N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	.	7.053e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs746873335	3.613e-06	4.788e-06	1.426e-06	5.857e-06	5.049e-05	1.06e-06	7.7e-07	1.679e-05	9.94e-06	0	0	0	0	0	0	0	1.724e-05	5.049e-05	6.574e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.693	0.05863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.47487	-0.4570	0.70168	T	0.373	0.73190	T	4	0.2170158	0.38302	T	.	.	.	.	.	.	.	.	.	0.58544048292484	0.58473	.	.	.	.	.	0.003487	0.02889	T	.	.	.	.	.	.	.	.	.	0.762324	0.62461	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40618	B	.;.	.;.	3.614068	0.51109	23.0	0.90763606675286401	0.20013	0.96897	0.71537	D	AEFBI	0.600580	0.59316	D	0.471952315503581	0.65458	4.825172	0.577232011699918	0.73311	5.949721	0.999999782056204	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	5.916000	0.69712	7.632000	0.62779	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.697	0.88190	743	0.52768	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	179.76	98	chr14	78297852	.	G	A	179.76	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-3.871;DP=784;ExcessHet=3.1439;FS=249.645;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.31;ReadPosRankSum=0.689;SOR=10.919	GT:AD:DP:GQ:PL	0/1:121,52:185:56:56,0,1838	2	0	4	1
chr14	89953914	89953914	G	A	exonic	EFCAB11	.	nonsynonymous SNV	EFCAB11:NM_001284266:exon2:c.C163T:p.P55S,EFCAB11:NM_001284267:exon2:c.C19T:p.P7S,EFCAB11:NM_001284268:exon2:c.C91T:p.P31S,EFCAB11:NM_001284269:exon2:c.C91T:p.P31S,EFCAB11:NM_145231:exon2:c.C163T:p.P55S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.0540513151503	.	.	3.304e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs753215655	2.053e-05	2.121e-05	1.362e-05	2.752e-05	0.0002	1.457e-05	1.264e-05	0.0001	0.0001	0	2.237e-05	0	0	0	0	1.079e-05	0	0.0002	1.314e-05	1.313e-05	0	2.691e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.083	0.33091	T	0.407	0.27145	T	0.997	0.70673	D	0.861	0.62758	P	0.000029	0.55875	D	0.071292	0.999995	0.81001	D	2.555	0.74557	M	1.84	0.69896	T	-6.4	0.92476	D	0.439	0.48780	0.131	0.84724	D	0.537	0.82887	D	10	0.37422943	0.53708	T	0.054051	0.65709	D	0.405	0.71791	0.566	0.68768	0.900847592122	0.89986	0.7736344208438598	0.77313	0.299086279298	0.32277	0.517496228218	0.41273	T	0.119218	0.44059	T	-0.118729	0.33332	T	-0.116174	0.62115	T	0.614480053146061	0.36981	D	0.844815	0.55914	T	0.3268904	0.55216	0.5020357	0.71214	0.3268904	0.55216	0.5020357	0.71214	-10.061	0.75377	D	.	.	0.944	0.86333	P	.;.;.;.;.	.;.;.;.;.	5.177318	0.86797	29.0	0.99883259435274541	0.95892	0.92595	0.56081	D	AEFBHCI	0.947267	0.95763	D	0.906480910837344	0.92073	11.21877	0.887358964334219	0.94999	13.22143	0.999999999999376	0.74766	0.660085	0.49399	0	0.685571	0.66316	0	0.662677	0.59975	0	0.627883	0.49187	0	.	.	5.8	5.8	0.92081	7.595000	0.81968	11.695000	0.94414	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.055	0.97644	960	0.08626	EF-hand domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	859.29	16	chr14	89953914	.	G	A	859.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.747;DP=175;ExcessHet=0.3476;FS=2.044;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=0;SOR=0.472	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,974	5	0	2	0
chr14	90301265	90301265	C	T	exonic	NRDE2	.	nonsynonymous SNV	NRDE2:NM_017970:exon7:c.G1519A:p.V507M	.	428	1069	25	0	0	25	0.011558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	.	0.0051	0.00479233	0.0047	0.0011	0.0029	0	0.0012	0.0062	0.0077	0.0063	0.004683	724	154602	rs79341977	0.0063	0.0063	0.0062	0.0064	0.0073	0.0062	0.0061	0.0072	0.0071	0.0012	0.0029	3.828e-05	7.557e-05	0.0006	0.0054	0.0073	0.0054	0.0057	0.0041	0.0041	0.0045	0.0038	0.0072	0.0039	0.0038	0.0067	0.0065	0.0015	0	0.0027	0	0	0.0003	0	0.0072	0.0014	0.0054	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.84330	D	0.000000	0.999999	0.58761	D	2.435	0.70606	M	1.31	0.35405	T	-0.86	0.36385	N	0.676	0.68342	-0.7888	0.55800	T	0.160	0.49463	T	10	0.008894891	0.00201	T	.	.	.	0.287	0.60574	.	.	0.647120189699	0.64419	0.5391645190508904	0.53841	0.396982738473	0.40801	0.526302278042	0.42514	T	0.01487	0.12581	T	-0.28588	0.10053	T	-0.178296	0.56681	T	0.0269564637618081	0.01537	T	0.956304	0.86183	D	0.17649929	0.38565	0.16566095	0.38311	0.17649929	0.38565	0.16566095	0.38311	-8.343	0.63384	D	.	.	0.259	0.53868	B	.;.	.;.	3.938548	0.57613	23.9	0.99892803870728586	0.96666	0.97628	0.76007	D	AEFDBCI	0.536387	0.55462	D	0.33904798678388	0.58165	3.987117	0.288415224318062	0.54861	3.650076	0.999999938239116	0.74766	0.660377	0.49826	0	0.653731	0.59785	0	0.696353	0.63694	0	0.662433	0.64102	0	.	.	5.8	4.91	0.63897	4.727000	0.61687	4.802000	0.44976	-0.187000	0.09635	1.000000	0.71638	1.000000	0.68203	0.170000	0.20979	0.0:0.873:0.127:0.0	17.052	0.86394	926	0.17793	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002554	0.000000	0.000000	0.000000	0.000000	0.000000	0.009615	0.007634	0.1429	2276.25	41	chr14	90301265	.	C	T	2276.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.637;DP=296;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=-0.145;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,102,1530:.	5	0	2	0
chr14	91189114	91189114	T	G	exonic	DGLUCY	.	nonsynonymous SNV	DGLUCY:NM_001102368:exon9:c.T1139G:p.V380G,DGLUCY:NM_001286471:exon9:c.T1124G:p.V375G,DGLUCY:NM_001358310:exon9:c.T1139G:p.V380G,DGLUCY:NM_001358311:exon9:c.T1124G:p.V375G,DGLUCY:NM_001358312:exon9:c.T1139G:p.V380G,DGLUCY:NM_024952:exon9:c.T1124G:p.V375G,DGLUCY:NM_001102367:exon10:c.T1124G:p.V375G,DGLUCY:NM_001102366:exon11:c.T1124G:p.V375G,DGLUCY:NM_001102369:exon11:c.T1088G:p.V363G,DGLUCY:NM_001286472:exon11:c.T1139G:p.V380G,DGLUCY:NM_001286470:exon12:c.T1139G:p.V380G	.	438	1076	8	0	0	8	0.0037037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	.	0.0026	0.00299521	0.0028	0.0006	0.0007	0.0001	0.0002	0.0033	0.0044	0.0060	0.0028978	448	154602	rs117996584	0.0040	0.0040	0.0040	0.0040	0.0068	0.0039	0.0039	0.0057	0.0056	0.0006	0.0011	0.0004	0	0.0003	0.0068	0.0045	0.0033	0.0062	0.0024	0.0025	0.0026	0.0023	0.0079	0.0022	0.0022	0.0059	0.0052	0.0007	0	0.0013	0.0003	0	0.0002	0.0034	0.0040	0.0047	0.0079	0.336	0.72154	T	0.0	0.92824	D	0.956	0.55854	P	0.656	0.56720	P	0.001591	0.38554	N	0.222293	0.998077	0.22364	N	.	.	.	2.17	0.19020	T	-3.43	0.70191	D	0.615	0.63120	-1.0518	0.13899	T	0.086	0.33438	T	10	0.009162515	0.00207	T	.	.	.	0.263	0.57612	.	.	0.0666544352282	0.05500	0.732384980946259	0.73183	0.333904867392	0.35413	.	.	.	0.037924	0.42238	T	-0.26219	0.12645	T	-0.146366	0.59564	T	0.0383427643306126	0.03393	T	0.720728	0.34567	T	0.46552542	0.65015	0.29713967	0.55747	0.46552542	0.65015	0.29713967	0.55746	-3.446	0.51084	T	.	.	0.490	0.64113	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.039318	0.40744	21.2	0.9892021512324275	0.48546	0.86431	0.45710	D	AEFDGBI	0.226613	0.35053	N	-0.154837316406531	0.35030	2.006937	-0.309761585688304	0.27782	1.544095	0.949008624517521	0.27826	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.92	2.56	0.29842	2.014000	0.40571	3.606000	0.39238	-0.120000	0.14102	0.926000	0.32145	0.988000	0.31051	0.046000	0.14843	0.0:0.4214:0.0:0.5786	7.059	0.24292	917	0.20147	.;.;.;.;Domain of unknown function DUF4392;Domain of unknown function DUF4392;Domain of unknown function DUF4392;Domain of unknown function DUF4392;Domain of unknown function DUF4392;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.005051	0.005435	0.002924	0.100000	0.000000	0.000000	0.007576	0.07143	671.53	34	chr14	91189114	.	T	G	671.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.803;DP=242;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.927;SOR=0.587	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1255	6	0	1	0
chr14	91273331	91273331	G	C	exonic	CCDC88C	.	nonsynonymous SNV	CCDC88C:NM_001080414:exon30:c.C5381G:p.P1794R	Hydrocephalus, nonsyndromic, autosomal recessive, Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	739374	CCDC88C-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.096	.	8.4e-05	0.00159744	0.0042	0	0.0053	0	0	0.0013	0	0.0121	0.0008797	136	154602	rs200077683	0.0005	0.0005	0.0004	0.0007	0.0059	0.0005	0.0005	0.0055	0.0053	3.141e-05	0.0012	0.0006	2.678e-05	0	0.0011	0.0001	0.0009	0.0059	0.0007	0.0007	0.0006	0.0009	0.0054	0.0006	0.0006	0.0038	0.0032	4.808e-05	0	0.0039	0.0009	0	0	0.0034	0.0001	0.0033	0.0054	0.527	0.07093	T	0.491	0.11515	T	0.528	0.37661	P	0.277	0.40197	B	0.043659	0.23718	U	0.300464	1	0.08975	N	2.44	0.70756	M	2.52	0.14160	T	-1.88	0.43906	N	0.209	0.23253	-0.9611	0.38974	T	0.149	0.47610	T	10	0.004674226	0.00098	T	.	.	.	0.096	0.27654	.	.	0.501874446873	0.49824	0.20276624002257568	0.20193	0.30571589573	0.32879	0.423363089561	0.28300	T	0.029139	0.20950	T	-0.594125	0.00158	T	-0.622331	0.11003	T	0.0244717706613991	0.01205	T	0.735226	0.35154	T	0.04033894	0.05739	0.07398957	0.16137	0.042450864	0.06440	0.04998176	0.07749	-5.201	0.38952	T	.	.	0.143	0.31381	B	.	.	1.814704	0.23060	15.87	0.90902478556864141	0.20151	0.75200	0.36809	D	AEFDBCI	0.267172	0.38393	N	-0.0153756271211116	0.41160	2.457021	-0.119785351367804	0.34593	1.991618	0.997731176467018	0.35965	0.631515	0.41029	0	0.697927	0.68747	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.14	4.24	0.49486	2.164000	0.42013	5.678000	0.49283	0.618000	0.50648	0.024000	0.20007	0.996000	0.32793	0.450000	0.27895	0.1905:0.0:0.8095:0.0	8.604	0.32924	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001515	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.08333	763.27	31	chr14	91273331	.	G	C	763.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.83;DP=223;ExcessHet=0;FS=2.418;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-1.213;SOR=0.4	GT:AD:DP:GQ:PL	0/1:28,27:55:99:773,0,825	5	0	1	1
chr14	91669860	91669860	A	G	exonic	CATSPERB	.	nonsynonymous SNV	CATSPERB:NM_024764:exon14:c.T1241C:p.M414T	.	420	1101	1	0	0	1	0.000453926	.	.	.	2399560	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.268	0.0910598412092	.	.	0.0001	9.61e-05	0	0	0	0.0002	0.0011	0.0002	0.00011	17	154602	rs761392469	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	5.978e-05	0	0	0	0.0001	0	0.0002	6.624e-05	0.0003	7.876e-05	7.874e-05	6.423e-05	9.395e-05	0.0004	4.492e-05	3.509e-05	7.29e-05	4.239e-05	4.81e-05	0	0	0	0	0	0	0.0001	0	0.0004	0.002	0.72154	D	0.0	0.92824	D	0.991	0.64070	D	0.883	0.62698	P	0.000782	0.41772	D	0.172110	0.580059	0.31107	N	2.615	0.76484	M	0.59	0.53943	T	-4.05	0.74504	D	0.698	0.70263	-0.3712	0.72925	T	0.263	0.63383	T	10	0.75405896	0.75849	D	0.09106	0.75635	D	0.268	0.58254	.	.	0.684832038806	0.68214	0.6427704699335214	0.64212	0.771076726515	0.64765	0.605897784233	0.53737	T	0.234535	0.60158	T	-0.110521	0.34681	T	-0.0962086	0.63690	T	0.795350730419159	0.46041	D	.	.	.	0.5754796	0.71361	0.7068316	0.82715	0.5754796	0.71362	0.7068316	0.82715	-7.125	0.54941	T	.	.	0.883	0.81653	P	.	.	4.341453	0.66608	25.0	0.98296413915154712	0.40002	0.82700	0.41892	D	AEFDCI	0.433491	0.49493	N	0.540852025194092	0.69526	5.36962	0.524519015773202	0.69644	5.389918	0.746026594310107	0.23286	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.58	5.58	0.84361	4.497000	0.60088	10.922000	0.84241	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.747000	0.35681	1.0:0.0:0.0:0.0	12.142	0.53309	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	831.44	33	chr14	91669860	.	A	G	831.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.66;DP=249;ExcessHet=0;FS=8.785;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.296;SOR=0.194	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1386	6	0	1	0
chr14	91993832	91993832	C	G	exonic	TRIP11	.	nonsynonymous SNV	TRIP11:NM_001321851:exon15:c.G5134C:p.E1712Q,TRIP11:NM_004239:exon15:c.G5137C:p.E1713Q	Achondrogenesis, type IA, Autosomal recessive	112	1405	3	2	0	7	0.00248491	.	.	.	191669	Connective_tissue_disorder|Achondrogenesis,_type_IA|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0008701,MedGen:C0265273,OMIM:200600,Orphanet:932,Orphanet:93299|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.074	0.0210061433509	0.0025	0.000798722	0.0023	0.0005	0.0012	0	0.0034	0.0034	0	0.0006	0.0020828	322	154602	rs137974620	0.0026	0.0027	0.0027	0.0026	0.0031	0.0026	0.0025	0.0029	0.0029	0.0004	0.0012	0.0015	0	0.0038	0.0031	0.0030	0.0026	0.0007	0.0022	0.0023	0.0022	0.0022	0.0030	0.0020	0.0020	0.0026	0.0025	0.0005	0.0716	0.0010	0.0009	0	0.0025	0.0034	0.0030	0.0028	0.0008	0.038	0.42783	D	0.061	0.45530	T	0.984	0.60733	D	0.902	0.64047	P	0.000000	0.84330	N	0.050641	0.99791	0.44315	D	1.52	0.38360	L	3.54	0.04799	T	-1.26	0.31778	N	0.27	0.30574	-0.4787	0.69414	T	0.277	0.64865	T	10	0.006249875	0.00141	T	0.021006	0.43710	T	0.133	0.36157	.	.	0.431602765429	0.42780	0.22064316349525712	0.21979	0.390152499004	0.40238	0.333794534206	0.15506	T	0.03861	0.24899	T	-0.494867	0.00611	T	-0.485725	0.23840	T	0.106919296085835	0.13101	T	0.810219	0.46129	T	0.26895964	0.49968	0.15852216	0.37015	0.26895964	0.49967	0.15852216	0.37014	-3.068	0.10932	T	0.16689296227325368	0.20777	0.089	0.12323	B	.	.	3.105605	0.41874	21.4	0.99705246636662526	0.80936	0.92528	0.55923	D	AEFBI	0.379615	0.46257	N	0.287237390604448	0.55502	3.714132	0.327016284453092	0.57134	3.878043	0.998917145053047	0.37962	0.732398	0.92422	0	0.708844	0.79440	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.41	4.51	0.54589	3.274000	0.51334	4.013000	0.41180	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.988000	0.63387	0.0:0.8575:0.1425:0.0	15.101	0.71950	657	0.62240	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.07143	738.49	35	chr14	91993832	.	C	G	738.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.432;DP=266;ExcessHet=0;FS=4.348;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=1.45;SOR=0.865	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1179	6	0	1	0
chr14	92071010	92071010	-	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.67_68insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G23Afs*73,ATXN3:NM_001164774:exon3:c.232_233insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G78Afs*73,ATXN3:NM_001164777:exon3:c.112_113insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G38Afs*73,ATXN3:NM_001164776:exon4:c.277_278insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G93Afs*73,ATXN3:NM_001164778:exon6:c.430_431insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G144Afs*73,ATXN3:NM_001164779:exon6:c.552_553insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G185Qfs*41,ATXN3:NM_001164780:exon7:c.378_379insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G127Qfs*41,ATXN3:NM_001127697:exon8:c.762_763insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G255Qfs*41,ATXN3:NM_001164781:exon8:c.705_706insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G236Qfs*41,ATXN3:NM_001127696:exon9:c.870_871insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G291Qfs*41,ATXN3:NM_030660:exon9:c.750_751insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G251Qfs*41,ATXN3:NM_004993:exon10:c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G306Qfs*41	Machado-Joseph disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0010	0.0009	0.0010	0.0126	0.0009	0.0009	0.0116	0.0112	0.0026	0.0006	0.0002	0.0126	0.0005	0.0017	0.0004	0.0015	0.0017	0.0030	0.0031	0.0029	0.0031	0.0153	0.0028	0.0027	0.0125	0.0114	0.0062	0	0.0019	0.0006	0.0153	0.0002	0	0.0012	0.0020	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	7249.72	30	chr14	92071010	.	C	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	7249.72	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.904;DP=400;ExcessHet=2.5225;FS=0.72;MLEAC=1;MLEAF=0.071;MQ=59.86;MQRankSum=0;QD=29.71;ReadPosRankSum=0.265;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:70:99:.:.:2869,2875,2881:.	6	0	1	0
chr14	92439379	92439379	C	G	exonic	SLC24A4	.	nonsynonymous SNV	SLC24A4:NM_153646:exon4:c.C363G:p.F121L,SLC24A4:NM_153648:exon4:c.C171G:p.F57L,SLC24A4:NM_001378620:exon5:c.C363G:p.F121L,SLC24A4:NM_153647:exon5:c.C363G:p.F121L	Amelogenesis imperfecta, type IIA5, Autosomal recessive	412	1104	6	0	0	6	0.00271003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.0280850414264	.	.	1.647e-05	0	8.637e-05	0	0	0	0	6.057e-05	1.29e-05	2	154602	rs750051961	1.985e-05	2.052e-05	8.173e-06	3.165e-05	0.0009	1.393e-05	1.204e-05	0.0003	0.0002	0	0	0	0	0	0.0009	7.2e-06	6.632e-05	0.0001	6.564e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.004	0.72154	D	0.005	0.76473	D	0.846	0.49442	P	0.557	0.55393	P	0.000000	0.84330	D	0.048930	0.999985	0.58761	D	1.24	0.30952	L	0.05	0.61923	T	-4.6	0.83224	D	0.792	0.86618	-0.9508	0.40833	T	0.153	0.48326	T	10	0.56705123	0.65109	D	0.028085	0.50815	D	0.345	0.66676	0.557	0.67547	0.836904385497	0.83534	0.7784795940673612	0.77797	0.786014294161	0.65511	0.889759421349	0.95230	D	0.446201	0.78893	T	-0.0188773	0.49012	T	-0.0622384	0.66176	T	0.763516187667847	0.44055	D	0.949505	0.80559	D	0.68194836	0.77074	0.59729415	0.76615	0.68194836	0.77076	0.59729415	0.76616	-11.875	0.84724	D	.	.	0.994	0.95199	P	.;.;.;.	.;.;.;.	4.847106	0.79187	27.1	0.99858324144011468	0.93729	0.97210	0.73340	D	AEFDBI	0.776136	0.70934	D	0.0549498513712335	0.44370	2.712352	0.133008469771193	0.46248	2.873875	0.999999999986255	0.74766	0.487112	0.14033	0	0.491513	0.07743	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.27	4.39	0.52211	4.049000	0.57110	3.291000	0.37306	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.843000	0.39806	0.0:0.927:0.0:0.073	14.010	0.64009	460	0.78750	.;.;Sodium/calcium exchanger membrane region;Sodium/calcium exchanger membrane region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1402.44	34	chr14	92439379	.	C	G	1402.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.347;DP=321;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=0.29;SOR=0.656	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	6	0	1	0
chr14	92941893	92941893	C	T	exonic	ITPK1	.	nonsynonymous SNV	ITPK1:NM_001363707:exon9:c.G556A:p.V186M,ITPK1:NM_001142593:exon11:c.G913A:p.V305M,ITPK1:NM_014216:exon11:c.G913A:p.V305M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.0109078414012	0.0002	.	3.887e-05	0.0001	0	0	0	5.272e-05	0	0	3.88e-05	6	154602	rs150211524	2.809e-05	2.805e-05	2.59e-05	3.03e-05	5.042e-05	2.09e-05	1.881e-05	2.371e-05	2.104e-05	0	0	0	5.042e-05	0	0	3.238e-05	3.314e-05	1.163e-05	4.595e-05	4.593e-05	5.139e-05	4.027e-05	7.351e-05	2.107e-05	1.526e-05	2.847e-05	1.858e-05	2.405e-05	0	0	0.0003	0	0	0	7.351e-05	0	0	0.086	0.39820	T	0.08	0.45961	T	1.0	0.90584	D	0.939	0.67449	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.085	0.27262	L	.	.	.	-1.22	0.35991	N	0.674	0.72031	-0.7034	0.60275	T	0.240	0.60762	T	9	0.6039257	0.67067	D	0.010908	0.27979	T	0.405	0.71791	.	.	0.373217324921	0.36936	0.8352184594217053	0.83481	0.926036099854	0.71641	0.689781904221	0.65674	T	0.184179	0.53676	T	-0.0183813	0.49085	T	-0.0645076	0.66016	T	0.552820026874542	0.34583	D	.	.	.	0.36285135	0.58052	0.25096673	0.50698	0.36285135	0.58053	0.25096673	0.50697	-11.133	0.80382	D	.	.	0.728	0.75652	P	.;.;.	.;.;.	5.415830	0.90635	31	0.99720593741260821	0.81984	0.99595	0.97811	D	AEFDBI	0.961856	0.98325	D	0.478183523521987	0.65818	4.87057	0.490394129076051	0.67352	5.072485	0.999999999999991	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.554053	0.18673	1	0.613276	0.41899	0	.	.	4.59	4.59	0.56297	7.552000	0.81138	7.549000	0.60236	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.844000	0.39860	0.0:1.0:0.0:0.0	17.42	0.87404	906	0.23090	ATP-grasp fold;ATP-grasp fold;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1700.92	26	chr14	92941893	.	C	T	1700.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.29;DP=235;ExcessHet=0.4139;FS=0.723;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=0.844;SOR=0.582	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,995	4	0	2	1
chr14	94079189	94079189	T	C	exonic	DDX24	.	nonsynonymous SNV	DDX24:NM_020414:exon2:c.A554G:p.H185R	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.002999433549	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1389398208	4.788e-06	4.788e-06	4.084e-06	5.5e-06	0.0002	1.99e-06	1.28e-06	7.2e-07	2e-07	0	0	0	2.519e-05	0	0.0002	2.698e-06	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.06322	T	0.551	0.09393	T	0.0	0.02946	B	0.0	0.01387	B	0.782822	0.06665	N	1.102210	1	0.08975	N	0.34	0.10450	N	4.1	0.02944	T	-0.68	0.19509	N	0.039	0.01274	-0.9161	0.46076	T	0.007	0.02598	T	10	0.04598537	0.03734	T	0.002999	0.06427	T	0.037	0.09474	.	.	0.110078149338	0.10416	0.17406288730173738	0.17325	.	.	0.236194700003	0.02458	T	0.030571	0.21640	T	-0.396305	0.02448	T	-0.807041	0.01733	T	0.0207058058870565	0.00770	T	.	.	.	0.026647998	0.01750	0.031217638	0.01680	0.026647998	0.01750	0.031217638	0.01680	-3.275	0.13417	T	.	.	0.054	0.03026	B	.;.	.;.	-1.532036	0.00276	0.004	0.35907380484604828	0.02280	0.16732	0.19524	N	AEFDBCI	0.146702	0.27022	N	-1.5687206881563	0.01428	0.0622901	-1.6349751201175	0.01455	0.06583689	0.999999823921775	0.74766	0.736574	0.97449	0	0.672317	0.65289	0	0.732669	0.93749	0	0.735409	0.98432	0	.	.	5.91	-7.19	0.01350	-0.393000	0.07366	-1.718000	0.04855	-1.493000	0.01042	0.000000	0.06391	0.000000	0.08366	0.182000	0.21359	0.0:0.5216:0.1872:0.2913	11.392	0.49061	362	0.84826	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1378.44	33	chr14	94079189	.	T	C	1378.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.27;DP=293;ExcessHet=0;FS=0.729;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-0.734;SOR=0.616	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1197	6	0	1	0
chr14	94129289	94129289	G	A	exonic	IFI27L2	.	nonsynonymous SNV	IFI27L2:NM_032036:exon2:c.C10T:p.R4W	.	386	1133	2	1	0	4	0.00176211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00351984217628	.	0.000199681	1.714e-05	0	0	0	0	1.55e-05	0	6.439e-05	1.94e-05	3	154602	rs577127970	2.069e-06	2.052e-06	1.372e-06	2.774e-06	1.811e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.811e-06	1.678e-05	0	6.645e-06	6.605e-06	1.299e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.009	0.57480	D	0.011	0.64786	D	0.0	0.02946	B	0.0	0.01387	B	0.039559	0.01865	U	4.062350	1	0.24182	N	1.905	0.50856	L	1.38	0.34050	T	-2.58	0.55662	D	0.296	0.33469	-1.0080	0.27541	T	0.084	0.32729	T	10	0.05189851	0.05142	T	0.00352	0.08000	T	0.037	0.09474	0.353	0.35246	0.126345400529	0.12197	0.6222816218962532	0.62161	0.0556908895108	0.06161	0.610887467861	0.54441	T	0.078217	0.35839	T	-0.248335	0.14304	T	-0.493863	0.22986	T	0.241293698549271	0.22479	T	0.541546	0.18382	T	0.15800531	0.35571	0.09203345	0.21669	0.15800531	0.35570	0.09203345	0.21669	-5.961	0.45952	T	.	.	0.217	0.44643	B	.	.	2.042433	0.25964	16.95	0.86888539370341356	0.16841	0.02647	0.07252	N	ALL	0.107697	0.21448	N	-1.10787947419813	0.06502	0.2994921	-1.22246444045514	0.05550	0.2647823	0.999999981220478	0.74766	0.72623	0.87236	0	0.484254	0.07192	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	1.65	0.744	0.17503	-0.301000	0.08269	-1.560000	0.05170	0.656000	0.54149	0.001000	0.13787	0.000000	0.08366	0.010000	0.09038	0.2231:0.0:0.7769:0.0	4.010	0.09108	433	0.80627	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	322.46	35	chr14	94129289	.	G	A	322.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.64;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=1.06;SOR=0.871	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,984	6	0	1	0
chr14	94264947	94264947	C	T	exonic	PPP4R4	.	nonsynonymous SNV	PPP4R4:NM_001348142:exon20:c.C1954T:p.R652C,PPP4R4:NM_058237:exon20:c.C2197T:p.R733C,PPP4R4:NM_001348144:exon21:c.C1876T:p.R626C,PPP4R4:NM_001348143:exon22:c.C1876T:p.R626C	.	442	1073	6	1	0	8	0.00371402	0.9907	0.744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360	.	0.0025	0.00119808	0.0022	0.0003	0.0015	0	0.0053	0.0028	0.0066	0.0013	0.0021086	326	154602	rs140391785	0.0020	0.0020	0.0020	0.0020	0.0130	0.0019	0.0019	0.0106	0.0097	0.0007	0.0020	0.0105	5.154e-05	0.0053	0.0130	0.0017	0.0027	0.0013	0.0023	0.0023	0.0019	0.0027	0.0031	0.0021	0.0020	0.0024	0.0022	0.0004	0	0.0031	0.0101	0	0.0070	0.0068	0.0022	0.0038	0.0029	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.951	0.68939	D	0.082902	0.20782	N	0.530450	1	0.81001	D	2.125	0.59049	M	.	.	.	-2.55	0.55181	D	0.539	0.56662	-0.2080	0.77465	T	0.400	0.75145	T	9	0.006914437	0.00157	T	0.015489	0.36250	T	0.360	0.68052	.	.	0.294918367191	0.29099	0.4197588124498855	0.41891	1.12507142131	0.78425	0.543465852737	0.44936	T	0.086488	0.37736	T	-0.251403	0.13925	T	-0.138826	0.60219	T	0.0504076278554607	0.05571	T	0.965703	0.87317	D	0.23774193	0.46642	0.17298101	0.39591	0.23774193	0.46642	0.17298101	0.39590	-6.053	0.46720	T	.	.	0.537	0.66242	A	.	.	6.126490	0.94620	34	0.99891469066200078	0.96513	0.96585	0.69879	D	AEFGBI	0.766466	0.70263	D	0.668137711923018	0.77546	6.695731	0.635835395901313	0.77559	6.702898	0.998714746560112	0.37518	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.05	5.05	0.67566	5.939000	0.69894	4.895000	0.45803	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.749	0.91771	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.001359	0.014620	0.050000	0.034483	0.009146	0.003788	0.07143	1297.44	33	chr14	94264947	.	C	T	1297.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.123;DP=300;ExcessHet=0;FS=0.694;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=0.778;SOR=0.568	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1142	6	0	1	0
chr14	94284024	94284024	C	T	exonic	SERPINA10	.	nonsynonymous SNV	SERPINA10:NM_001100607:exon5:c.G1276A:p.E426K,SERPINA10:NM_016186:exon5:c.G1276A:p.E426K	.	427	1069	25	1	0	27	0.0124711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.611	.	0.0003	0.00299521	0.0020	9.612e-05	0.0008	0	0.0003	0.0004	0.0033	0.0126	0.0017982	278	154602	rs145648775	0.0011	0.0011	0.0006	0.0015	0.0133	0.0010	0.0010	0.0127	0.0124	2.987e-05	0.0003	0.0003	5.038e-05	9.36e-05	0.0038	0.0003	0.0010	0.0133	0.0008	0.0008	0.0005	0.0012	0.0164	0.0007	0.0007	0.0135	0.0124	0.0002	0	0.0007	0	0	9.427e-05	0.0034	0.0005	0	0.0164	0.021	0.56456	D	0.036	0.53072	D	0.998	0.73220	D	0.917	0.65306	D	0.000004	0.62929	D	0.000000	0.998659	0.48408	D	2.115	0.58683	M	-2.41	0.88533	D	-2.7	0.57599	D	0.257	0.34659	0.690	0.93049	D	0.779	0.92492	D	10	0.0064769983	0.00147	T	.	.	.	0.611	0.84773	.	.	0.892773738801	0.89171	0.6828012008231884	0.68219	0.162893000959	0.18384	0.378734469414	0.22077	T	0.377743	0.74087	T	-0.114024	0.34105	T	0.0744667	0.75208	D	0.0595708028641465	0.07101	T	0.746525	0.36724	T	0.8849335	0.90077	0.7381103	0.84521	0.8849335	0.90079	0.7381103	0.84522	-8.826	0.66570	D	.	.	0.182	0.55201	B	.;.;.;.	.;.;.;.	3.740567	0.53561	23.4	0.99892103190004844	0.96589	0.86037	0.45245	D	AEFBI	0.533762	0.55308	D	0.365894956527431	0.59584	4.13897	0.273811328633932	0.54015	3.56789	0.997626442340196	0.35831	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.7	4.81	0.61401	2.114000	0.41535	2.219000	0.31434	0.454000	0.21428	1.000000	0.71638	0.978000	0.30204	0.982000	0.59238	0.0:0.9305:0.0:0.0695	14.634	0.68280	923	0.18507	Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003535	0.000000	0.002717	0.002924	0.000000	0.000000	0.009317	0.000000	0.2143	2027.72	33	chr14	94284024	.	C	T	2027.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.318;DP=229;ExcessHet=0;FS=2.365;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=23.04;ReadPosRankSum=-0.42;SOR=0.43	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1032	5	1	1	0
chr14	94379499	94379499	C	T	exonic	SERPINA1	.	nonsynonymous SNV	SERPINA1:NM_000295:exon4:c.G1030A:p.G344R,SERPINA1:NM_001002235:exon4:c.G1030A:p.G344R,SERPINA1:NM_001127700:exon4:c.G1030A:p.G344R,SERPINA1:NM_001127702:exon5:c.G1030A:p.G344R,SERPINA1:NM_001127706:exon5:c.G1030A:p.G344R,SERPINA1:NM_001127707:exon5:c.G1030A:p.G344R,SERPINA1:NM_001002236:exon6:c.G1030A:p.G344R,SERPINA1:NM_001127701:exon6:c.G1030A:p.G344R,SERPINA1:NM_001127703:exon6:c.G1030A:p.G344R,SERPINA1:NM_001127704:exon6:c.G1030A:p.G344R,SERPINA1:NM_001127705:exon6:c.G1030A:p.G344R	Emphysema due to AAT deficiency, Autosomal recessive;Emphysema-cirrhosis, due to AAT deficiency, Autosomal recessive;Hemorrhagic diathesis due to antithrombin Pittsburgh, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	YES	1836203	Inborn_genetic_diseases|Alpha-1-antitrypsin_deficiency	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013282,MedGen:C0221757,OMIM:613490,Orphanet:60	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.762	0.107581191031	7.7e-05	.	4.943e-05	0	0	0	0	8.993e-05	0	0	4.53e-05	7	154602	rs367797069	6.362e-05	6.43e-05	5.445e-05	7.288e-05	0.0002	5.294e-05	4.911e-05	9.791e-05	7.838e-05	0	0.0002	0	0	0	0.0002	6.205e-05	3.311e-05	0.0002	7.233e-05	8.534e-05	7.718e-05	6.726e-05	0.0002	3.974e-05	3.129e-05	2.848e-05	1.859e-05	2.412e-05	0	0.0001	0	0.0002	0	0	7.356e-05	0.0009	0	0.001	0.78490	D	0.023	0.57104	D	0.996	0.90584	D	0.911	0.65999	D	0.000002	0.62929	D	0.000000	0.99565	0.42792	D	2.98	0.85499	M	-2.57	0.89692	D	-7.6	0.95336	D	0.95	0.95841	0.691	0.93060	D	0.787	0.92768	D	10	0.94071347	0.93397	D	0.107581	0.78371	D	0.762	0.91920	0.72	0.85496	0.997593593938	0.99756	0.6274682892323759	0.62679	0.331718741098	0.35239	0.540324211121	0.44491	T	0.517516	0.83063	D	0.377458	0.88542	D	0.304416	0.88399	D	0.854418218135834	0.50550	D	0.683132	0.31438	T	0.83695054	0.86391	0.61359364	0.77513	0.72296965	0.79329	0.6122196	0.77439	-7.074	0.54573	T	0.4408309079602398	0.52636	0.250	0.55637	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.639281	0.51593	23.1	0.9988476834970712	0.96049	0.90770	0.52227	D	AEFDBHCI	0.868654	0.78887	D	0.408016156720055	0.61862	4.393195	0.270992260540872	0.53852	3.552	0.99999993837138	0.74766	0.553676	0.25195	0	0.610034	0.51514	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.38	4.5	0.54382	2.987000	0.49066	1.718000	0.28241	-0.173000	0.11020	0.876000	0.30908	0.028000	0.21151	0.020000	0.11549	0.0:0.915:0.0:0.085	11.494	0.49646	917	0.20147	Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	838.49	59	chr14	94379499	.	C	T	838.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.21;DP=414;ExcessHet=0;FS=2.966;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-0.695;SOR=1.03	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1215	6	0	1	0
chr14	94379513	94379513	C	T	exonic	SERPINA1	.	nonsynonymous SNV	SERPINA1:NM_000295:exon4:c.G1016A:p.G339E,SERPINA1:NM_001002235:exon4:c.G1016A:p.G339E,SERPINA1:NM_001127700:exon4:c.G1016A:p.G339E,SERPINA1:NM_001127702:exon5:c.G1016A:p.G339E,SERPINA1:NM_001127706:exon5:c.G1016A:p.G339E,SERPINA1:NM_001127707:exon5:c.G1016A:p.G339E,SERPINA1:NM_001002236:exon6:c.G1016A:p.G339E,SERPINA1:NM_001127701:exon6:c.G1016A:p.G339E,SERPINA1:NM_001127703:exon6:c.G1016A:p.G339E,SERPINA1:NM_001127704:exon6:c.G1016A:p.G339E,SERPINA1:NM_001127705:exon6:c.G1016A:p.G339E	Emphysema due to AAT deficiency, Autosomal recessive;Emphysema-cirrhosis, due to AAT deficiency, Autosomal recessive;Hemorrhagic diathesis due to antithrombin Pittsburgh, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.015284713241	.	.	.	.	.	.	.	.	.	.	0.0252805	658	26028	rs186298255	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	7.405e-05	0.0081	2.626e-05	0.0001	0.0002	4.066e-05	3.196e-05	5.533e-05	2.903e-05	2.445e-05	0	0.0002	0	0.0002	0.0004	0	1.502e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.004	0.10090	B	0.201876	0.03325	N	1.632050	1	0.08975	N	-0.055	0.04927	N	-1.63	0.82440	D	1.6	0.00652	N	0.084	0.06059	-0.7416	0.58370	T	0.175	0.51816	T	10	0.06385669	0.08383	T	0.015285	0.35936	T	0.152	0.39956	0.358	0.36060	0.708489977135	0.70594	0.28805864301383166	0.28718	0.0536714916649	0.05925	0.246817171574	0.03440	T	0.12283	0.44678	T	-0.214714	0.18721	T	-0.546198	0.17693	T	0.0226976832768117	0.00987	T	0.0435956	0.00682	T	0.099375755	0.23451	0.08960794	0.20963	0.099375755	0.23451	0.08960794	0.20963	-2.39	0.25083	T	0.10573163998153827	0.08417	0.074	0.11510	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	-1.212546	0.00518	0.012	0.47182625122801897	0.03837	0.02891	0.07678	N	AEFDBHCI	0.440912	0.49928	N	-1.78089906355498	0.00593	0.025575	-1.76931647493546	0.00863	0.03855153	0.99999997204157	0.74766	0.553676	0.25195	0	0.610034	0.51514	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.38	-8.5	0.00808	-2.165000	0.01360	-20.000000	0.00162	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.320000	0.24970	0.0:0.1294:0.2015:0.6691	10.136	0.41880	917	0.20147	Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	55.97	66	chr14	94379513	.	C	T	55.97	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.26;DP=411;ExcessHet=0.4139;FS=7.708;MLEAC=2;MLEAF=0.167;MQ=59.87;MQRankSum=0;QD=0.26;ReadPosRankSum=1.78;SOR=0.99	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1215:.	4	0	2	1
chr14	94448330	94448330	G	A	exonic	SERPINA11	.	nonsynonymous SNV	SERPINA11:NM_001080451:exon2:c.C445T:p.P149S	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.0571845778194	0.0028	0.000599042	0.0022	0.0004	0.0025	0	0.0006	0.0034	0.0011	0.0004	0.0022121	342	154602	rs61738925	0.0029	0.0029	0.0030	0.0027	0.0033	0.0028	0.0028	0.0032	0.0032	0.0006	0.0032	0.0028	0	0.0005	0.0016	0.0033	0.0038	0.0003	0.0025	0.0025	0.0023	0.0028	0.0048	0.0023	0.0022	0.0039	0.0036	0.0007	0	0.0048	0.0040	0	0.0004	0	0.0037	0.0038	0.0004	0.006	0.61437	D	0.024	0.56640	D	0.295	0.32424	B	0.179	0.35808	B	0.000256	0.46924	D	0.092528	0.870577	0.35555	D	2.37	0.68279	M	-1.8	0.83893	D	-2.21	0.49684	N	0.427	0.46649	0.266	0.86999	D	0.550	0.83503	D	10	0.014007002	0.00295	T	0.057185	0.66874	D	0.533	0.80367	.	.	0.730538620245	0.72814	0.38509404776505335	0.38424	0.317205355367	0.33965	0.353736400604	0.18471	T	0.339486	0.70862	T	-0.249648	0.14140	T	-0.132217	0.60785	T	0.0277473004377803	0.01651	T	0.670133	0.27879	T	0.3237854	0.54958	0.38823158	0.63672	0.3237854	0.54958	0.38823158	0.63672	-10.395	0.76242	D	.	.	0.326	0.54918	B	.	.	3.211850	0.43726	21.8	0.99899416708535194	0.97124	0.78989	0.39059	D	AEFDBI	0.676660	0.64163	D	0.0888398172282625	0.45943	2.842489	0.121228589835616	0.45636	2.823309	0.999998580860093	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.04	5.04	0.67293	2.492000	0.44970	7.125000	0.57606	0.676000	0.76740	0.942000	0.32722	1.000000	0.68203	0.007000	0.07825	0.0:0.0:0.8514:0.1486	14.338	0.66168	895	0.25842	Serpin domain|Serpin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	284.44	37	chr14	94448330	.	G	A	284.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.203;DP=272;ExcessHet=0;FS=1.201;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.17;ReadPosRankSum=-1.518;SOR=0.942	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	6	0	1	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D,SERPINA12:NM_001382267:exon2:c.G596A:p.G199D,SERPINA12:NM_173850:exon3:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1661.77	55	chr14	94497802	.	C	T	1661.77	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.85;DP=480;ExcessHet=3.1439;FS=488.847;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.4;ReadPosRankSum=0.495;SOR=10.1	GT:AD:DP:GQ:PL	0/1:67,36:103:99:412,0,1055	1	0	4	2
chr14	94619305	94619305	C	G	exonic	SERPINA3	.	nonsynonymous SNV	SERPINA3:NM_001085:exon3:c.C754G:p.P252A,SERPINA3:NM_001384672:exon3:c.C754G:p.P252A,SERPINA3:NM_001384673:exon4:c.C754G:p.P252A,SERPINA3:NM_001384674:exon4:c.C754G:p.P252A	Alpha-1-antichymotrypsin deficiency (3);Cerebrovascular disease, occlusive (3)	421	1100	1	0	0	1	0.000454339	.	.	.	33089	ANTICHYMOTRYPSIN_BONN_1|not_provided|Antichymotrypsin_deficiency-alpha-1|SERPINA3-related_disorder	.|MedGen:C3661900|MedGen:C0400965|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.491	0.0415625158125	0.0042	0.00119808	0.0030	0.0009	0.0017	0	0.0003	0.0050	0	6.058e-05	0.0033311	515	154602	rs17473	0.0047	0.0047	0.0049	0.0045	0.0059	0.0046	0.0046	0.0058	0.0057	0.0009	0.0012	0.0001	0	0.0008	0.0002	0.0059	0.0030	3.478e-05	0.0031	0.0031	0.0033	0.0029	0.0058	0.0028	0.0028	0.0053	0.0051	0.0010	0.0044	0.0012	0.0003	0	0.0008	0	0.0058	0.0009	0.0002	0.099	0.32296	T	0.485	0.16280	T	0.027	0.19556	B	0.027	0.21085	B	0.011790	0.29400	N	0.141188	1.8071e-08	0.08975	A	1.545	0.39105	L	-1.84	0.84195	D	-5.64	0.89401	D	0.183	0.19861	-0.5243	0.67756	T	0.344	0.70908	T	10	0.15218908	0.28751	T	0.041563	0.59997	D	0.491	0.77783	.	.	0.899046816885	0.89804	0.3037530640895957	0.30288	0.0357311131857	0.03767	0.294980973005	0.09655	T	0.543528	0.84413	D	-0.205706	0.19988	T	-0.0631321	0.66114	T	0.0128702099593095	0.00220	T	0.818618	0.49436	T	0.45429403	0.64313	0.49501038	0.70794	0.59981	0.72682	0.41646063	0.65729	-8.396	0.63739	D	0.4218836265072341	0.51053	0.176	0.45617	B	.;.;.;.;.	.;.;.;.;.	3.496232	0.48888	22.7	0.8228167767415755	0.14111	0.09213	0.15014	N	AEFGBCI	0.707685	0.66234	D	-0.470579749355237	0.23049	1.234991	-0.521754195269448	0.21562	1.167068	0.993770719796328	0.33350	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	4.66	3.75	0.42236	0.092000	0.14905	0.177000	0.15587	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6059:0.211:0.183	4.277	0.10258	772	0.48957	Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1667	2892.92	36	chr14	94619305	.	C	G	2892.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.854;DP=377;ExcessHet=0.4139;FS=0.998;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=1.6;SOR=0.778	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1280	4	0	2	1
chr14	95466044	95466044	G	A	exonic	SYNE3	.	nonsynonymous SNV	SYNE3:NM_001363692:exon4:c.C514T:p.R172W,SYNE3:NM_001384281:exon4:c.C514T:p.R172W,SYNE3:NM_001384282:exon4:c.C514T:p.R172W,SYNE3:NM_001384284:exon4:c.C514T:p.R172W,SYNE3:NM_152592:exon4:c.C514T:p.R172W,SYNE3:NM_001384283:exon5:c.C538T:p.R180W	.	.	.	.	.	.	.	.	.	.	.	3478253	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.213	0.0882536398162	7.7e-05	.	5.776e-05	9.617e-05	8.64e-05	0	0	4.5e-05	0	0.0001	5.17e-05	8	154602	rs376081330	2.328e-05	2.326e-05	1.498e-05	3.167e-05	0.0002	1.676e-05	1.479e-05	3.766e-05	2.662e-05	0	6.711e-05	0	2.522e-05	0	0.0002	1.89e-05	1.657e-05	8.117e-05	2.629e-05	2.627e-05	3.854e-05	1.346e-05	0.0001	8.14e-06	5.14e-06	2.261e-05	9.07e-06	2.414e-05	0	0.0001	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.984	0.76113	D	0.003344	0.35069	N	0.000000	0.999089	0.46032	D	2.455	0.71248	M	1.31	0.35405	T	-5.91	0.89684	D	0.755	0.76296	-0.8661	0.50820	T	0.177	0.52272	T	10	0.6610868	0.70158	D	0.088254	0.75096	D	0.213	0.50496	.	.	0.611542178662	0.60841	0.4566513724639848	0.45583	0.549970519472	0.51874	0.633121073246	0.57588	T	0.337571	0.70694	T	-0.144953	0.29104	T	-0.243337	0.50472	T	0.651205599308014	0.38514	D	0.937806	0.76632	D	0.422073	0.62229	0.39678845	0.64311	0.422073	0.62230	0.39678845	0.64311	-8.81	0.69626	D	.	.	0.259	0.51297	B	.;.;.	.;.;.	4.870944	0.79790	27.2	0.99899766350778174	0.97199	0.79815	0.39626	D	AEFBI	0.637931	0.61653	D	0.285258575261791	0.55399	3.704158	0.190146164248038	0.49306	3.135375	0.992496789666824	0.32860	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	4.12	1.66	0.23081	1.850000	0.38968	5.659000	0.49211	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.4098:0.5902	11.610	0.50309	946	0.12043	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	599.53	45	chr14	95466044	.	G	A	599.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.62;DP=221;ExcessHet=0;FS=1.154;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-0.466;SOR=0.483	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,998	6	0	1	0
chr14	96264253	96264253	C	G	exonic	BDKRB1	.	nonsynonymous SNV	BDKRB1:NM_000710:exon3:c.C571G:p.L191V	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.0370978439039	0.0029	0.00179712	0.0024	0.0005	0.0028	0	0.0024	0.0036	0.0022	0	0.0023932	370	154602	rs143823168	0.0028	0.0028	0.0029	0.0027	0.0032	0.0027	0.0027	0.0031	0.0031	0.0005	0.0022	0.0020	0	0.0026	0.0003	0.0032	0.0033	2.319e-05	0.0019	0.0019	0.0020	0.0019	0.0030	0.0018	0.0017	0.0025	0.0023	0.0005	0	0.0030	0.0026	0	0.0022	0	0.0028	0.0033	0	0.005	0.63226	D	0.082	0.41573	T	0.999	0.77913	D	0.986	0.76916	D	0.000588	0.43095	U	0.094118	0.999996	0.08975	N	1.77	0.45869	L	1.16	0.38073	T	-1.79	0.43524	N	0.449	0.48872	-1.0104	0.26791	T	0.120	0.41993	T	10	0.0067479014	0.00153	T	0.037098	0.57405	D	0.170	0.43303	.	.	0.581120218722	0.57782	0.45269421062681536	0.45187	0.403603670912	0.41292	0.370061576366	0.20841	T	0.166886	0.51329	T	-0.444656	0.01214	T	-0.414545	0.31703	T	0.0370417964876169	0.03163	T	0.645335	0.25688	T	0.41492498	0.61752	0.30642885	0.56668	0.41492498	0.61752	0.30642885	0.56667	-8.21	0.62492	D	.	.	0.321	0.56038	B	.;.;.	.;.;.	2.189119	0.27911	17.62	0.99233529003978449	0.56310	0.22296	0.21698	N	AEFGBCI	.	.	.	-0.199949076929356	0.33136	1.876577	-0.346448827929337	0.26620	1.471507	0.999997051635862	0.74766	0.533608	0.22052	0	0.610034	0.51514	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	4.95	3.13	0.35090	-0.021000	0.12445	0.106000	0.14715	-0.172000	0.11096	0.001000	0.13787	0.141000	0.23092	0.026000	0.12556	0.0:0.7366:0.0:0.2634	8.757	0.33810	976	0.04745	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	852.53	72	chr14	96264253	.	C	G	852.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.604;DP=307;ExcessHet=0;FS=1.958;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=0.999;SOR=0.652	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr14	96264403	96264403	G	A	exonic	BDKRB1	.	nonsynonymous SNV	BDKRB1:NM_000710:exon3:c.G721A:p.G241R	.	434	1052	36	0	0	36	0.0168224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	0.0025	0.00359425	0.0062	0.0003	0.0017	0	0.0029	0.0052	0.0155	0.0213	0.0053363	825	154602	rs45528332	0.0038	0.0038	0.0031	0.0044	0.0195	0.0037	0.0036	0.0188	0.0184	0.0003	0.0021	0.0120	2.519e-05	0.0018	0.0052	0.0027	0.0040	0.0195	0.0036	0.0036	0.0035	0.0037	0.0207	0.0034	0.0033	0.0174	0.0162	0.0004	0	0.0011	0.0153	0.0002	0.0018	0.0068	0.0049	0.0043	0.0207	0.1	0.30515	T	0.693	0.05863	T	0.926	0.51467	P	0.297	0.40924	B	0.254390	0.15442	N	0.633849	1	0.25321	N	0.895	0.22405	L	-0.53	0.70833	T	-0.78	0.21644	N	0.103	0.08646	-0.9401	0.42600	T	0.150	0.47717	T	10	0.004887551	0.00104	T	.	.	.	0.172	0.43662	0.523	0.62668	0.671674792424	0.66890	0.17369235007743314	0.17289	0.406064420184	0.41486	0.302673399448	0.10801	T	0.073267	0.34657	T	-0.46555	0.00907	T	-0.425251	0.30476	T	0.00979771209445082	0.00129	T	0.586341	0.21412	T	0.07508437	0.16893	0.07595928	0.16776	0.07508437	0.16893	0.07595928	0.16776	-2.949	0.09642	T	.	.	0.120	0.24733	B	.;.	.;.	2.631070	0.34213	19.56	0.99684065869996952	0.79440	0.12662	0.17404	N	AEFGBCI	.	.	.	-0.344884559445541	0.27461	1.506785	-0.347014161319572	0.26601	1.470419	0.999995329122686	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.04	5.04	0.67293	1.354000	0.33660	1.443000	0.26543	0.676000	0.76740	0.098000	0.22752	0.949000	0.28973	0.002000	0.04165	0.1869:0.0:0.8131:0.0	7.426	0.26275	976	0.04745	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.006793	0.000000	0.000000	0.000000	0.015244	0.030303	0.1429	1665.65	37	chr14	96264403	.	G	A	1665.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.99;DP=279;ExcessHet=0.3476;FS=10.315;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=0.371;SOR=1.236	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	2	0
chr14	96289720	96289720	C	T	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon41:c.G5942A:p.R1981Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.00768285512875	.	.	2.471e-05	0	0	0	0	0	0	0.0002	3.84e-05	1	26028	rs760382963	1.779e-05	1.779e-05	9.529e-06	2.613e-05	0.0003	1.237e-05	1.051e-05	0.0002	0.0001	0	2.236e-05	0	0	0	0	2.698e-06	0	0.0003	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.012	0.54683	D	0.031	0.53788	D	0.904	0.49848	P	0.549	0.49194	P	0.000001	0.62929	D	0.058207	0.999919	0.51042	D	2.32	0.66415	M	2.78	0.11298	T	-2.36	0.52128	N	0.466	0.50237	-1.1634	0.00677	T	0.049	0.20868	T	10	0.3277815	0.50056	T	0.007683	0.20378	T	0.158	0.41098	0.592	0.72123	0.55744451731	0.55404	0.6947291200339274	0.69413	0.720835370615	0.62198	0.382140427828	0.22559	T	0.008886	0.08127	T	-0.0958087	0.37118	T	-0.375399	0.36260	T	0.386232823133469	0.28421	T	0.962304	0.85835	D	0.31683275	0.54371	0.21575412	0.46177	0.31683275	0.54371	0.21575412	0.46176	-4.733	0.33801	T	.	.	0.081	0.08465	B	.	.	4.959748	0.81993	27.7	0.99948834380383478	0.99931	0.93531	0.58471	D	AEFDBCI	0.604974	0.59587	D	0.583152405833493	0.72125	5.756521	0.596901519776314	0.74718	6.184755	0.999999666964885	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.4	4.5	0.54382	5.842000	0.69133	5.895000	0.50812	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.916000	0.45140	0.0:0.9265:0.0:0.0735	13.886	0.63210	976	0.04745	Autophagy-related, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	765.49	33	chr14	96289720	.	C	T	765.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.032;DP=264;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.41;ReadPosRankSum=0.529;SOR=0.779	GT:AD:DP:GQ:PL	0/1:54,37:91:99:776,0,1235	6	0	1	0
chr14	96328709	96328709	G	C	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon13:c.C1939G:p.L647V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.0210505278955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.126	0.35205	T	0.997	0.70673	D	0.991	0.79672	D	0.000024	0.55875	U	0.000000	0.99996	0.52935	D	1.84	0.48285	L	2.88	0.10291	T	-1.24	0.31375	N	0.642	0.65416	-1.1675	0.00589	T	0.084	0.32814	T	10	0.61223567	0.67508	D	0.021051	0.43757	T	0.190	0.46781	0.198	0.11110	0.586816528483	0.58355	0.3201478662071291	0.31927	0.652725768522	0.58449	0.597697973251	0.52579	T	0.005137	0.04581	T	-0.0899762	0.38080	T	-0.367021	0.37237	T	0.884093582630157	0.53431	D	0.913309	0.69109	D	0.17750946	0.38721	0.15349935	0.36067	0.17750946	0.38720	0.15349935	0.36066	-4.522	0.31175	T	.	.	0.095	0.14888	B	.	.	5.100309	0.85214	28.5	0.99806771792025484	0.89085	0.98731	0.86131	D	AEFBI	0.733095	0.67964	D	0.75656352154125	0.83333	7.989826	0.766028455875063	0.87348	9.19159	0.999996270545633	0.74766	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	7.339000	0.78520	11.847000	0.97966	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.147	0.98079	966	0.07191	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	41.18	18	chr14	96328709	.	G	C	41.18	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.27;DP=124;ExcessHet=0;FS=45.319;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.87;ReadPosRankSum=1.79;SOR=5.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:17,5:23:50:.:.:50,0,393:.	4	0	1	2
chr14	96328715	96328715	G	A	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon13:c.C1933T:p.L645F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00886626903136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.14843	T	0.342	0.17910	T	0.986	0.61523	D	0.655	0.52639	P	0.000461	0.44317	U	0.093440	0.999826	0.49512	D	2.045	0.56016	M	2.77	0.11407	T	-0.83	0.22727	N	0.713	0.71587	-1.1906	0.00235	T	0.048	0.20434	T	10	0.7158303	0.73340	D	0.008866	0.23390	T	0.101	0.28911	0.261	0.20473	0.649875675476	0.64696	0.4360382408406853	0.43520	0.714222314845	0.61872	0.581186294556	0.50252	T	0.001087	0.00603	T	0.00244457	0.51991	T	-0.234265	0.51358	T	0.895890891551971	0.54752	D	0.90391	0.66280	D	0.124084935	0.29122	0.11591009	0.27982	0.124084935	0.29121	0.11591009	0.27982	-4.983	0.36655	T	.	.	0.122	0.25592	B	.	.	5.086143	0.84911	28.4	0.99872796088211291	0.94989	0.97351	0.74201	D	AEFBI	0.585571	0.58394	D	0.613794296568722	0.74046	6.066685	0.657745283479078	0.79189	7.030037	0.999992539104278	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	5.885000	0.69480	11.847000	0.97966	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.857:0.143	14.927	0.70531	966	0.07191	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	67.17	19	chr14	96328715	.	G	A	67.17	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.015;DP=120;ExcessHet=0;FS=32.164;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=2.92;ReadPosRankSum=1.83;SOR=4.975	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:18,5:24:76:.:.:76,0,375:.	4	0	1	2
chr14	96341592	96341592	A	G	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon6:c.T854C:p.I285T	.	.	.	.	.	.	.	.	.	.	.	3921827	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.474	0.0142357390461	.	.	8.282e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs749912321	3.919e-05	3.967e-05	3.557e-05	4.285e-05	4.876e-05	3.063e-05	2.797e-05	3.819e-05	3.421e-05	3e-05	0	0	0	0	0	4.876e-05	3.332e-05	0	1.971e-05	1.97e-05	0	4.035e-05	7.241e-05	5.24e-06	2.45e-06	1.92e-05	1.032e-05	7.241e-05	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.005	0.72224	D	0.919	0.50927	P	0.324	0.41853	B	0.000422	0.44522	U	0.147160	0.999535	0.47451	D	2.585	0.75554	M	2.6	0.13204	T	-3.77	0.71397	D	0.89	0.88909	-1.1554	0.00873	T	0.040	0.17063	T	10	0.78096986	0.77850	D	0.014236	0.34223	T	0.474	0.76685	.	.	0.495238560318	0.49160	0.7338751308144992	0.73332	0.731342445777	0.62740	0.641583442688	0.58789	T	0.068482	0.33469	T	0.0919221	0.63406	D	0.0764102	0.75339	D	0.910641074180603	0.56595	D	0.907609	0.67324	D	0.4345681	0.63050	0.51512665	0.71983	0.4345681	0.63051	0.51512665	0.71984	-8.304	0.63122	D	.	.	0.213	0.44135	B	.	.	3.871718	0.56212	23.7	0.99865712561020503	0.94366	0.98977	0.89442	D	AEFBI	0.848187	0.76503	D	0.559591130757075	0.70667	5.535509	0.645441569655534	0.78272	6.842846	0.999999694708181	0.74766	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	6.04	6.04	0.98025	8.947000	0.92735	11.120000	0.86527	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	1.0:0.0:0.0:0.0	16.588	0.84597	961	0.08552	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr14	96341592	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=200;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1128	6	1	0	0
chr14	96552583	96552583	C	T	exonic	PAPOLA	.	nonsynonymous SNV	PAPOLA:NM_001293632:exon15:c.C875T:p.T292M,PAPOLA:NM_001293627:exon17:c.C1625T:p.T542M,PAPOLA:NM_001293628:exon17:c.C875T:p.T292M,PAPOLA:NM_001363662:exon17:c.C1625T:p.T542M,PAPOLA:NM_001363664:exon17:c.C1625T:p.T542M,PAPOLA:NM_001363665:exon17:c.C1625T:p.T542M,PAPOLA:NM_001363666:exon17:c.C1625T:p.T542M,PAPOLA:NM_032632:exon17:c.C1625T:p.T542M	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00359582038131	7.7e-05	.	9.063e-05	9.61e-05	0	0	0.0002	0	0	0.0005	8.41e-05	13	154602	rs373881128	6.089e-05	6.088e-05	2.587e-05	9.626e-05	0.0008	5.028e-05	4.672e-05	0.0006	0.0006	8.961e-05	2.236e-05	0	0	7.489e-05	0	7.195e-06	6.624e-05	0.0008	6.569e-05	6.563e-05	3.856e-05	9.407e-05	0.0008	3.516e-05	2.616e-05	0.0003	0.0002	4.815e-05	0	0.0001	0	0	9.454e-05	0	1.47e-05	0	0.0008	0.356	0.15098	T	0.406	0.16865	T	0.014	0.16867	B	0.002	0.06944	B	0.001971	0.37549	N	0.304354	0.944026	0.37432	D	-0.935	0.01286	N	.	.	.	-0.47	0.16799	N	0.205	0.25253	-1.0676	0.09948	T	0.080	0.31675	T	9	0.02106753	0.00497	T	0.003596	0.08216	T	0.033	0.08068	.	.	0.102598925029	0.09809	0.18039348692865803	0.17958	0.298742333184	0.32256	0.346822410822	0.17453	T	0.02468	0.18600	T	-0.400478	0.02299	T	-0.452241	0.27448	T	0.0452862188827909	0.04653	T	0.381962	0.09278	T	0.016170796	0.00181	0.03270231	0.02046	0.016170796	0.00180	0.03270231	0.02046	-5.437	0.41274	T	.	.	0.044	0.00444	B	.;.;.	.;.;.	1.707240	0.21744	15.33	0.94759740091402855	0.25468	0.37654	0.25810	N	AEFBI	0.131586	0.25058	N	-0.553021150475062	0.20389	1.074473	-0.363997582059206	0.26079	1.438231	0.999375907477574	0.39355	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.32	2.99	0.33673	1.671000	0.37129	1.539000	0.27214	-0.181000	0.10308	1.000000	0.71638	0.975000	0.29991	0.997000	0.79791	0.0:0.2351:0.0:0.7649	7.766	0.28145	946	0.12043	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1386.45	33	chr14	96552583	.	C	T	1386.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.14;DP=312;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=-0.044;SOR=0.711	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	6	0	1	0
chr14	99645357	99645357	G	C	exonic	HHIPL1	.	nonsynonymous SNV	HHIPL1:NM_001127258:exon1:c.G150C:p.E50D,HHIPL1:NM_032425:exon1:c.G150C:p.E50D	.	430	1091	1	0	0	1	0.000458085	.	.	.	4142986	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.015	0.0180402161438	.	.	.	.	.	.	.	.	.	.	.	.	.	rs751957573	4.319e-05	4.241e-05	4.257e-05	4.383e-05	0.0003	3.411e-05	3.065e-05	3.894e-05	3.525e-05	0	0	0	0	0	0.0003	5.015e-05	1.876e-05	2.9e-05	3.291e-05	3.284e-05	5.147e-05	1.347e-05	0.0001	1.262e-05	7.99e-06	2.265e-05	9.09e-06	0	0	0.0001	0	0	0	0	4.416e-05	0	0	0.627	0.05198	T	0.62	0.07444	T	0.022	0.20130	B	0.109	0.31370	B	0.846308	0.08996	U	0.911255	1	0.08975	N	-0.55	0.02420	N	1.55	0.29866	T	-1.13	0.29114	N	0.107	0.11483	-0.9799	0.35025	T	0.033	0.14290	T	10	0.028911144	0.01020	T	0.01804	0.39967	T	0.015	0.02232	0.294	0.25720	0.0716867268079	0.06686	0.2886313665661262	0.28776	0.483244084845	0.47279	0.846618294716	0.89103	D	0.012047	0.10654	T	-0.504369	0.00540	T	-0.736566	0.04036	T	0.0556978442275706	0.06474	T	0.89481	0.63428	D	0.04008577	0.05657	0.052567743	0.08686	0.04008577	0.05657	0.052567743	0.08685	-6.458	0.51357	T	.	.	0.126	0.31431	B	.;.	.;.	-0.795677	0.01115	0.051	0.41603177421169818	0.03012	0.00991	0.03763	N	AEFDBHIJ	0.040462	0.06023	N	-2.50883255185555	0.00015	0.0006584841	-2.59182970785638	0.00014	0.000626612	1.0	0.98316	0.455138	0.09556	0	0.59043	0.45803	0	0.503968	0.08637	0	0.56751	0.32155	0	.	.	4.25	-8.49	0.00812	-2.660000	0.00924	-6.542000	0.01370	-1.872000	0.00551	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0646:0.1357:0.6386:0.1611	11.246	0.48227	906	0.23090	Folate receptor-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	77.63	13	chr14	99645357	.	G	C	77.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.023;DP=161;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.97;ReadPosRankSum=-1.691;SOR=1.329	GT:AD:DP:GQ:PL	0/0:34,0:34:88:0,88,899	6	0	1	0
chr14	100149354	100149354	G	T	exonic	DEGS2	.	nonsynonymous SNV	DEGS2:NM_206918:exon2:c.C439A:p.R147S	.	416	1092	14	0	0	14	0.00636943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	0.0015	0.00139776	0.0035	0.0007	0.0007	0.0001	0.0035	0.0032	0.0012	0.0108	0.0029689	459	154602	rs149922542	0.0032	0.0032	0.0030	0.0033	0.0094	0.0031	0.0031	0.0088	0.0086	0.0005	0.0007	3.866e-05	7.571e-05	0.0035	0.0042	0.0031	0.0020	0.0094	0.0023	0.0023	0.0023	0.0023	0.0070	0.0021	0.0020	0.0052	0.0045	0.0008	0	0.0007	0	0	0.0042	0.0068	0.0033	0.0014	0.0070	0.601	0.05618	T	0.684	0.06033	T	0.028	0.19712	B	0.044	0.24394	B	0.063626	0.22011	N	0.492658	1	0.81001	D	0.805	0.20218	L	2.27	0.17431	T	0.48	0.03041	N	0.235	0.26475	-0.9852	0.33784	T	0.018	0.07282	T	10	0.009126782	0.00206	T	.	.	.	0.044	0.11924	.	.	0.180583059064	0.17676	0.711420743028283	0.71084	0.893006755115	0.70303	0.264480620623	0.05436	T	0.127949	0.45530	T	-0.567297	0.00230	T	-0.580695	0.14482	T	0.00168552342132505	0.00017	T	0.385961	0.09480	T	0.11166096	0.26385	0.075003214	0.16467	0.11166096	0.26384	0.075003214	0.16466	-3.394	0.14976	T	.	.	0.104	0.19032	B	.	.	1.288313	0.16887	12.83	0.88631730197718617	0.18130	0.71993	0.35256	D	AEFDBCI	0.273100	0.38858	N	-0.832250209454433	0.12491	0.609186	-0.794684648192078	0.14626	0.7651443	0.999985765568072	0.51787	0.580535	0.33130	0	0.550933	0.16991	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.4	-2.33	0.06340	1.748000	0.37935	0.859000	0.22211	0.676000	0.76740	0.823000	0.30032	0.000000	0.08366	0.893000	0.43066	0.1897:0.4776:0.2288:0.1038	3.584	0.07513	964	0.07719	Fatty acid desaturase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003024	0.000000	0.001362	0.000000	0.000000	0.000000	0.009202	0.007576	0.07143	1823.44	34	chr14	100149354	.	G	T	1823.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.749;DP=551;ExcessHet=0;FS=1.384;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=0.558;SOR=0.551	GT:AD:DP:GQ:PL	0/1:63,68:131:99:1834,0,1606	6	0	1	0
chr14	101979447	101979447	C	G	exonic	DYNC1H1	.	nonsynonymous SNV	DYNC1H1:NM_001376:exon3:c.C473G:p.A158G	Charcot-Marie-Tooth disease, axonal, type 20, Autosomal dominant;Mental retardation, autosomal dominant 13, Autosomal dominant;Spinal muscular atrophy, lower extremity-predominant 1, AD, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00258591275764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.20759	T	.	.	.	0.594	0.39171	P	0.231	0.38266	B	0.000000	0.84330	D	0.052978	0.999998	0.58761	D	2.28	0.64929	M	1.53	0.30401	T	-2.71	0.57762	D	0.434	0.47301	-1.1103	0.03044	T	0.067	0.27640	T	10	0.38834623	0.54708	T	0.002586	0.05206	T	0.086	0.25016	0.334	0.32167	0.465761423216	0.46202	0.3312543018990284	0.33038	1.19972250114	0.80498	0.845215201378	0.88891	D	0.690412	0.90993	D	-0.136183	0.30501	T	-0.433394	0.29551	T	0.920670568943024	0.57994	D	0.89621	0.63821	D	0.6317737	0.74393	0.44808212	0.67865	0.6317737	0.74394	0.44808212	0.67866	-5.665	0.43381	T	.	.	0.209	0.43626	B	.	.	3.672680	0.52235	23.2	0.99342335375662505	0.60210	0.98065	0.79301	D	AEFBI	0.629087	0.61093	D	0.249710662620245	0.53623	3.530497	0.363743600029818	0.59340	4.110981	0.999999998958514	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	5.647000	0.67597	7.598000	0.61467	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.8558:0.1442:0.0	14.780	0.69380	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	922.63	35	chr14	101979447	.	C	G	922.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.96;DP=265;ExcessHet=0;FS=2.799;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=0.871;SOR=0.43	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1024	6	0	1	0
chr14	102870235	102870235	G	A	exonic	TRAF3	.	nonsynonymous SNV	TRAF3:NM_001199427:exon2:c.G34A:p.A12T,TRAF3:NM_003300:exon2:c.G34A:p.A12T,TRAF3:NM_001385142:exon3:c.G34A:p.A12T,TRAF3:NM_001385143:exon3:c.G34A:p.A12T,TRAF3:NM_145725:exon3:c.G34A:p.A12T,TRAF3:NM_145726:exon3:c.G34A:p.A12T	.	420	1100	2	0	0	2	0.000908265	.	.	.	841078	not_specified|Herpes_simplex_encephalitis,_susceptibility_to,_3	MedGen:CN169374|MONDO:MONDO:0013920,MedGen:C3553868,OMIM:614849,Orphanet:1930	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.033	0.00511990783726	0.0002	.	0.0004	9.626e-05	8.642e-05	0	0.0002	0.0005	0.0011	0.0004	0.0002975	46	154602	rs139127242	0.0004	0.0004	0.0004	0.0004	0.0008	0.0004	0.0004	0.0006	0.0006	5.974e-05	0.0001	0	7.557e-05	0.0007	0.0007	0.0004	0.0007	0.0008	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0002	0.0003	0.0002	2.408e-05	0	6.541e-05	0	0	0.0002	0	0.0004	0.0005	0.0008	1.0	0.02102	T	0.411	0.14500	T	0.0	0.02946	B	0.0	0.04355	B	0.000012	0.00162	N	4.603210	1	0.08975	N	-0.69	0.01958	N	2.25	0.44461	T	-0.22	0.15178	N	0.04	0.05414	-1.0202	0.23649	T	0.044	0.18906	T	10	0.013813674	0.00292	T	0.00512	0.13001	T	0.033	0.08068	.	.	0.298199939746	0.29431	0.34357753242507116	0.34271	0.548579291965	0.51791	0.260190844536	0.04913	T	0.049022	0.28186	T	-0.665967	0.00058	T	-0.833598	0.01200	T	0.0177662698905639	0.00505	T	0.482252	0.16835	T	0.017730193	0.00298	0.037583392	0.03441	0.017730193	0.00298	0.037583392	0.03440	-3.426	0.15408	T	.	.	0.062	0.02370	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.074925	0.00085	0.002	0.75238034046729552	0.10997	0.02300	0.06612	N	AEFDBI	0.038514	0.05460	N	-2.79541388889422	0.00003	0.0001395892	-2.88425132596484	0.00002	0.0001275785	0.999999999999999	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.2	-10.4	0.00257	-4.034000	0.00349	-4.956000	0.01911	-3.847000	0.00056	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0793:0.2265:0.4404:0.2539	6.39	0.20784	506	0.75555	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	61.44	34	chr14	102870235	.	G	A	61.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.967;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.48;ReadPosRankSum=-0.967;SOR=1.179	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr14	102923968	102923968	G	A	exonic	AMN	.	nonsynonymous SNV	AMN:NM_030943:exon3:c.G196A:p.V66I	Megaloblastic anemia-1, Norwegian type, Autosomal recessive	0	1519	2	1	0	4	0.00131492	.	.	.	2899945	Imerslund-Grasbeck_syndrome	MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.119	0.0964229197746	.	.	0.0001	0	0	0	0	1.517e-05	0.0011	0.0007	8.41e-05	13	154602	rs772996972	7.05e-05	7.046e-05	2.179e-05	0.0001	0.0011	5.917e-05	5.526e-05	0.0010	0.0009	0	0	0	0	0	0	2.698e-06	3.312e-05	0.0011	6.565e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.004	0.12183	B	0.002	0.06944	B	0.190967	0.16847	N	0.567800	1	0.08975	N	0.22	0.09567	N	-2.17	0.86624	D	-0.05	0.07736	N	0.087	0.06454	-0.7881	0.55840	T	0.204	0.56197	T	10	0.020163268	0.00460	T	0.096423	0.76599	D	0.119	0.33137	0.407	0.44066	0.298056030225	0.29408	0.17009147244389838	0.16929	0.412122410975	0.41960	0.562514305115	0.47621	T	0.174319	0.52350	T	-0.454018	0.01069	T	-0.518856	0.20410	T	0.00818082211464759	0.00098	T	0.442056	0.12263	T	0.08742732	0.20358	0.08627383	0.19977	0.05291946	0.09939	0.078499645	0.17588	-4.553	0.31576	T	0.1074958959097036	0.08756	0.077	0.06205	B	.	.	-0.770842	0.01165	0.056	0.82215491544216324	0.14077	0.00770	0.03176	N	AEFDBIJ	0.080559	0.16289	N	-1.55839731382595	0.01486	0.06487385	-1.57807441615319	0.01790	0.08146155	0.999500205540665	0.40062	0.59774	0.34471	0	0.627178	0.54094	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.14	-2.9	0.05310	-0.995000	0.03823	-3.413000	0.02806	-0.255000	0.07062	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.4159:0.0:0.4093:0.1748	3.415	0.06944	495	0.76383	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	950.49	29	chr14	102923968	.	G	A	950.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.712;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=1.64;SOR=0.724	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1385	6	0	1	0
chr14	103110066	103110066	G	A	exonic	EXOC3L4	.	nonsynonymous SNV	EXOC3L4:NM_001077594:exon11:c.G2012A:p.R671Q	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.0134043935849	7.8e-05	.	0.0002	0	0.0001	0	0	5.916e-05	0	0.0012	0.0001423	22	154602	rs141612043	6.765e-05	8.003e-05	4.39e-05	9.172e-05	0.0010	5.68e-05	5.219e-05	0.0008	0.0007	0	2.308e-05	0	0	0	0.0002	9.037e-06	6.691e-05	0.0010	6.566e-05	6.561e-05	2.57e-05	0.0001	0.0012	3.514e-05	2.614e-05	0.0005	0.0004	0	0	6.533e-05	0	0	0	0	4.41e-05	0	0.0012	0.157	0.23997	T	0.079	0.42086	T	0.999	0.77913	D	0.933	0.66815	D	0.005820	0.32491	N	0.242209	1	0.08975	N	2.4	0.69460	M	3.32	0.06214	T	-1.15	0.29525	N	0.478	0.51315	-1.0941	0.04884	T	0.036	0.15422	T	10	0.1039812	0.19146	T	0.013404	0.32774	T	0.188	0.46444	.	.	0.288352970974	0.28455	0.2781006840541033	0.27723	0.256068172782	0.28184	0.486868977547	0.37005	T	0.021409	0.16677	T	-0.456864	0.01028	T	-0.479471	0.24503	T	0.166813598446301	0.18360	T	0.845015	0.52334	T	0.058510125	0.11779	0.07581492	0.16729	0.058510125	0.11779	0.07581492	0.16728	-4.005	0.23878	T	.	.	0.155	0.34250	B	.	.	3.809279	0.54931	23.5	0.99478563978974954	0.66741	0.00671	0.02892	N	ALL	0.165093	0.29156	N	0.0848349124193065	0.45756	2.826844	-0.0704879363541698	0.36616	2.133215	1.0	0.98316	0.615755	0.39536	0	0.576064	0.32778	0	0.687007	0.62461	0	0.526803	0.08958	0	.	.	4.05	3.15	0.35301	1.820000	0.38670	5.516000	0.48810	0.676000	0.76740	0.057000	0.21666	0.984000	0.30665	0.042000	0.14466	0.123:0.0:0.877:0.0	7.001	0.23988	643	0.63827	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1373.83	33	chr14	103110066	.	G	A	1373.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.65;DP=335;ExcessHet=0;FS=3.059;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.75;ReadPosRankSum=1.1;SOR=1.102	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	6	0	1	0
chr14	103135891	103135891	G	A	exonic	TNFAIP2	.	nonsynonymous SNV	TNFAIP2:NM_001371220:exon13:c.G2039A:p.R680H,TNFAIP2:NM_001371221:exon13:c.G2039A:p.R680H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00192151762021	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs760129248	1.143e-05	1.163e-05	1.38e-05	8.959e-06	0.0002	6.38e-06	4.91e-06	4.36e-06	2.03e-06	0	0	0	0	0	0.0002	7.599e-06	7.217e-05	2.625e-05	5.254e-05	5.253e-05	0.0001	0	0.0001	2.556e-05	1.829e-05	4.737e-05	3.052e-05	0.0001	0	0	0	0	0	0	4.409e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	40.44	33	chr14	103135891	.	G	A	40.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.29;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.04;ReadPosRankSum=0.253;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1077	6	0	1	0
chr14	103975464	103975464	A	T	exonic	TDRD9	.	nonsynonymous SNV	TDRD9:NM_153046:exon7:c.A922T:p.N308Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00905869469303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.992	0.01958	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.070837	0.21513	N	0.418384	0.999978	0.53665	D	0.345	0.11182	N	3.96	0.03354	T	-1.7	0.40468	N	0.195	0.32037	-0.9138	0.46377	T	0.011	0.04042	T	10	0.1316993	0.25066	T	0.009059	0.23845	T	0.080	0.23350	0.56	0.67958	0.461495907335	0.45776	0.6234781595387012	0.62280	0.255256795125	0.28113	0.314108073711	0.12528	T	0.03357	0.22968	T	-0.2074	0.19747	T	-0.535692	0.18722	T	0.670484781265259	0.39359	D	0.659134	0.27736	T	0.089210406	0.20838	0.123806305	0.29850	0.089210406	0.20837	0.123806305	0.29849	-7.851	0.60050	D	.	.	0.074	0.05145	B	.;.	.;.	2.896287	0.38372	20.7	0.9751300628496945	0.34363	0.95834	0.66353	D	AEFDI	0.670634	0.63765	D	-0.105111190330733	0.37170	2.158667	0.0758996538476638	0.43340	2.637777	0.992606967457962	0.32901	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.16	5.16	0.70563	5.013000	0.63783	9.173000	0.79043	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.8592:0.0:0.0:0.1408	10.870	0.46084	465	0.78421	Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr14	103975464	.	A	T	33.22	.	AC=2;AF=0.143;AN=14;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1210	6	1	0	0
chr14	104098899	104098899	C	T	exonic	ASPG	.	nonsynonymous SNV	ASPG:NM_001080464:exon6:c.C560T:p.T187I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.0610338729263	8.1e-05	.	4.826e-05	0	0.0001	0	0	5.203e-05	0	6.997e-05	3.23e-05	5	154602	rs376822285	2.054e-05	2.052e-05	1.771e-05	2.34e-05	0.0005	1.457e-05	1.265e-05	0.0001	7.546e-05	0	2.239e-05	0	0	0	0.0005	2.159e-05	1.657e-05	1.161e-05	3.284e-05	3.283e-05	5.137e-05	1.344e-05	5.879e-05	1.26e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0.0032	5.879e-05	0	0	0.334	0.19639	T	0.383	0.24334	T	1.0	0.90584	D	0.987	0.77487	D	0.000000	0.84330	U	0.000000	0.999952	0.52396	D	1.975	0.53506	M	1.83	0.24841	T	-2.4	0.52776	N	0.828	0.82964	-0.9457	0.41698	T	0.133	0.44603	T	10	0.72451127	0.73883	D	0.061034	0.68199	D	0.192	0.47115	.	.	0.52468985305	0.52114	0.8543466328567573	0.85397	0.526482578618	0.50275	0.744549751282	0.73642	T	0.094295	0.44305	T	-0.0620097	0.42591	T	-0.196398	0.54988	T	0.465208649635315	0.31356	T	0.982268	0.94010	D	0.41148257	0.61520	0.34246993	0.59972	0.41148257	0.61520	0.34246993	0.59972	-7.386	0.56806	T	.	.	0.291	0.52260	B	.;.	.;.	3.837213	0.55501	23.6	0.99269211055349349	0.57491	0.90744	0.52179	D	AEFDBI	0.852218	0.76912	D	0.293716802756929	0.55830	3.747058	0.238722957085308	0.52011	3.378922	0.999999926893828	0.74766	0.582742	0.33608	0	0.573888	0.26702	0	0.61531	0.40942	0	0.613276	0.41899	0	.	.	3.97	3.97	0.45241	5.552000	0.66986	7.298000	0.58079	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.266000	0.23669	0.0:1.0:0.0:0.0	14.813	0.69636	517	0.74620	L-asparaginase, N-terminal;L-asparaginase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1545.05	40	chr14	104098899	.	C	T	1545.05	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.378;DP=259;ExcessHet=0.3476;FS=1.478;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=0.153;SOR=0.533	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	2	0
chr14	104594306	104594306	C	G	exonic	TMEM179	.	nonsynonymous SNV	TMEM179:NM_001286390:exon4:c.G612C:p.K204N	.	511	1007	4	0	0	4	0.00198216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	.	.	.	.	.	.	.	.	0.0013447	35	26028	rs61745821	0.0009	0.0007	0.0009	0.0009	0.0124	0.0008	0.0008	0.0092	0.0081	0.0006	0.0002	0.0191	0	0	0.0124	0.0006	0.0022	0.0010	0.0009	0.0009	0.0009	0.0009	0.0007	0.0008	0.0007	0.0005	0.0005	0.0002	0	0.0005	0.0176	0	0	0.0205	0.0007	0.0033	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.123	0.11483	.	.	.	.	.	.	.	0.0077750683	0.00177	T	.	.	.	.	.	.	.	0.110078149338	0.10416	.	.	.	.	.	.	.	.	.	.	-0.737734	0.00021	T	-0.906594	0.00457	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.46505	B	.	.	0.765788	0.11358	7.973	0.47864348023927489	0.03948	0.01051	0.03915	N	AEFDBI	.	.	.	.	.	.	.	.	.	6.97415211356231E-4	0.07645	0.055982	0.00716	0	0.059962	0.00310	0	0.072005	0.02045	0	0.062806	0.01542	0	0.0498113	0.09340	2.49	-0.616	0.11002	0.364000	0.20053	-1.724000	0.04844	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4834:0.2281:0.2885	3.142	0.06072	862	0.33134	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	60.44	33	chr14	104594306	.	C	G	60.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.385;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=1.44;SOR=0.991	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	6	0	1	0
chr14	104707715	104707715	C	T	exonic	INF2	.	nonsynonymous SNV	INF2:NM_001031714:exon8:c.C1448T:p.S483F,INF2:NM_022489:exon8:c.C1448T:p.S483F	Charcot-Marie-Tooth disease, dominant intermediate E, Autosomal dominant;Glomerulosclerosis, focal segmental, 5	.	.	.	.	.	.	.	.	.	.	505344	INF2-related_disorder|Focal_segmental_glomerulosclerosis_5|Charcot-Marie-Tooth_disease_dominant_intermediate_E|not_provided	.|MONDO:MONDO:0013191,MedGen:C2750475,OMIM:613237,Orphanet:656|MONDO:MONDO:0013758,MedGen:C4302667,OMIM:614455,Orphanet:93114|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.107	0.398930579461	.	.	0.0002	0	0	0	0	0.0003	0	0.0002	1.29e-05	2	154602	rs753188664	0.0001	0.0001	0.0001	0.0001	0.0036	0.0001	0.0001	0.0021	0.0017	3.794e-05	0.0009	0	8.812e-05	0	0.0036	8.195e-05	0.0003	0.0001	0.0001	0.0001	0.0001	0.0001	0.0005	8.215e-05	6.807e-05	8.356e-05	3.487e-05	8.075e-05	0	0.0002	0	0	0	0.0154	4.689e-05	0.0015	0.0005	0.039	0.43393	D	0.128	0.34959	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.895	0.01383	N	-1.37	0.80301	T	-0.16	0.09460	N	0.148	0.15046	-0.9093	0.46940	T	0.237	0.60379	T	9	0.020722717	0.00482	T	0.398931	0.93354	D	0.107	0.30369	.	.	0.102598925029	0.09809	0.03958585762132977	0.03904	0.270303575424	0.29553	0.640102207661	0.58579	T	0.023666	0.18025	T	-0.472327	0.00822	T	-0.501682	0.22173	T	0.00459116373822256	0.00049	T	0.435556	0.11926	T	0.03905909	0.05321	0.047990028	0.07034	0.044147555	0.07007	0.04406177	0.05623	-4.208	0.27768	T	0.1483932970694452	0.17273	0.094	0.14979	B	.;.	.;.	0.679840	0.10482	7.199	0.93778540709419633	0.23735	0.00605	0.02694	N	AEFDBCI	0.032790	0.03771	N	-1.3528552649815	0.03095	0.137735	-1.43255250960402	0.02932	0.1358124	0.999972096036013	0.50053	0.660377	0.49826	0	0.550933	0.16991	0	0.723109	0.80598	0	0.592323	0.36904	0	.	.	3.18	-2.61	0.05811	-0.752000	0.04902	-0.850000	0.07182	-0.367000	0.05470	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2715:0.1569:0.5717	5.152	0.14341	957	0.09725	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012270	0.007353	0.023585	0.010714	0.000000	0.040541	0.000000	0.005556	0.07143	289.93	12	chr14	104707715	.	C	T	289.93	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.014;DP=85;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=24.16;ReadPosRankSum=1.45;SOR=0.495	GT:AD:DP:GQ:PL	0/0:16,0:16:48:0,48,412	6	0	1	0
chr14	104801667	104801667	C	T	exonic	ZBTB42	.	nonsynonymous SNV	ZBTB42:NM_001137601:exon1:c.C470T:p.A157V,ZBTB42:NM_001370342:exon2:c.C470T:p.A157V	.	415	1097	9	1	0	11	0.00498866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	.	0.00239617	0.0117	0	0.0032	0	0	0	0.0060	0.0244	0.0013389	207	154602	rs569652332	0.0013	0.0013	0.0006	0.0020	0.0223	0.0013	0.0012	0.0214	0.0211	3.165e-05	2.801e-05	0	0	0	0.0012	9.269e-07	0.0008	0.0223	0.0006	0.0006	0.0002	0.0010	0.0184	0.0005	0.0005	0.0154	0.0142	2.405e-05	0	0	0	0	0	0	0	0	0.0184	0.077	0.34095	T	0.257	0.23231	T	0.295	0.32424	B	0.133	0.33073	B	.	.	.	.	1	0.08975	N	1.845	0.48678	L	2.65	0.12676	T	-1.29	0.32387	N	0.03	0.00717	-0.9727	0.36627	T	0.021	0.08963	T	9	0.0032694638	0.00056	T	.	.	.	0.015	0.02232	0.289	0.24921	0.0297737177859	0.01360	.	.	.	.	0.545254230499	0.45187	T	0.015186	0.12784	T	-0.643128	0.00080	T	-0.679	0.07044	T	0.0277906459123951	0.01658	T	0.454055	0.12934	T	0.035444275	0.04172	0.07100095	0.15153	0.03540245	0.04159	0.076426886	0.16925	-4.454	0.30283	T	.	.	0.278	0.51165	B	.;.	.;.	1.357152	0.17655	13.29	0.99500356129602263	0.67973	0.17181	0.19725	N	AEFDGBHCI	0.075297	0.15117	N	-1.05001192382694	0.07587	0.352964	-1.09349985103851	0.07827	0.3823173	0.999999093713252	0.74766	0.65757	0.49021	0	0.491552	0.07993	0	0.619478	0.44681	0	0.604282	0.37693	0	.	.	3.09	2.2	0.26966	0.306000	0.19030	2.214000	0.31393	-0.278000	0.06506	0.000000	0.06391	0.043000	0.21642	0.013000	0.09966	0.0:0.8016:0.1984:0.0	10.480	0.43873	969	0.06854	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005198	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.048077	0.07143	824.53	35	chr14	104801667	.	C	T	824.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.214;DP=272;ExcessHet=0;FS=2.021;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-0.364;SOR=0.458	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	6	0	1	0
chr14	104944175	104944175	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10976T:p.A3659V,AHNAK2:NM_138420:exon7:c.C11276T:p.A3759V	.	433	1058	31	0	0	31	0.0144388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.024738690492	.	.	4.977e-05	0.0001	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs762470858	3.971e-05	7.868e-05	3.542e-05	4.404e-05	0.0002	3.115e-05	2.849e-05	3.767e-05	2.755e-05	2.992e-05	0	0	0	0	0.0002	4.049e-05	6.632e-05	8.12e-05	4.058e-05	0.0014	5.287e-05	2.77e-05	0.0001	1.757e-05	1.157e-05	4.944e-05	3.19e-05	0.0001	0	0	0	0	0	0	1.489e-05	0	0	0.028	0.46129	D	0.063	0.45110	T	0.012	0.16265	B	0.01	0.14941	B	0.299966	0.03948	U	1.840710	1	0.08975	N	0.205	0.09354	N	5.83	0.00652	T	-2.56	0.55339	D	0.069	0.04188	-0.9045	0.47504	T	0.003	0.00929	T	10	0.06377372	0.08357	T	0.024739	0.47726	T	0.037	0.09474	.	.	0.0138822411134	0.00435	0.004746779182261101	0.00447	.	.	0.167820572853	0.00025	T	0.024804	0.18673	T	-0.539558	0.00337	T	-0.738514	0.03953	T	0.0586531829207644	0.06954	T	0.236476	0.03296	T	0.04050458	0.05794	0.058473505	0.10811	0.04050458	0.05794	0.058473505	0.10811	-1.868	0.02720	T	.	.	0.092	0.13362	B	.	.	-0.717969	0.01279	0.067	0.97329653179763331	0.33418	0.02806	0.07531	N	AEFBI	.	.	.	-1.08578588282399	0.06905	0.319191	-1.17118712972313	0.06395	0.3077083	1.61262701251638E-4	0.05721	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.13	-1.91	0.07225	-0.804000	0.04641	-20.000000	0.00162	-1.927000	0.00502	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5597:0.1748:0.2655:0.0	4.779	0.12563	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	190.44	177	chr14	104944175	.	G	A	190.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.276;DP=1580;ExcessHet=0;FS=23.452;MLEAC=1;MLEAF=0.071;MQ=58.82;MQRankSum=-17.47;QD=0.62;ReadPosRankSum=-1.583;SOR=2.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:275,0:275:99:.:.:0,120,1800:.	6	0	1	0
chr14	104944178	104944178	G	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10973G:p.T3658R,AHNAK2:NM_138420:exon7:c.C11273G:p.T3758R	.	433	1072	17	0	0	17	0.00786673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00946792399026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1183612492	2.053e-06	3.215e-05	1.362e-06	2.752e-06	2.32e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	8.996e-07	0	2.32e-05	6.766e-06	0.0012	1.322e-05	0	2.543e-05	0	0	.	.	2.543e-05	0	0	0	0	0	0	0	0	0	0.556	0.06461	T	0.654	0.06643	T	0.017	0.17573	B	0.008	0.13708	B	0.045649	0.01949	U	4.017220	1	0.08975	N	1.095	0.27400	L	4.71	0.01655	T	-0.41	0.14000	N	0.087	0.06454	-0.8847	0.49382	T	0.008	0.02679	T	10	0.055714905	0.06134	T	0.009468	0.24809	T	0.032	0.07718	0.229	0.15556	0.0138822411134	0.00435	0.004878085995868745	0.00459	.	.	0.215819358826	0.01082	T	0.020774	0.16293	T	-0.314783	0.07334	T	-0.689941	0.06392	T	0.0369846471797902	0.03153	T	0.308469	0.05950	T	0.026394365	0.01691	0.034579005	0.02549	0.026394365	0.01691	0.034579005	0.02549	-6.347	0.49094	T	.	.	0.087	0.11172	B	.	.	-0.339081	0.02450	0.281	0.62540945077157595	0.06989	0.01830	0.05681	N	AEFBI	.	.	.	-1.28187589143296	0.03893	0.1747631	-1.36185924592355	0.03668	0.1715764	1.3216691354537E-4	0.05486	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.4	-1.33	0.08693	-1.086000	0.03497	-20.000000	0.00162	-1.018000	0.01743	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0856:0.3845:0.4154:0.1145	5.487	0.16046	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	58.44	177	chr14	104944178	.	G	C	58.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=6.86;DP=1590;ExcessHet=0;FS=23.907;MLEAC=1;MLEAF=0.071;MQ=59.04;MQRankSum=-17.45;QD=0.19;ReadPosRankSum=-1.904;SOR=3.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:275,0:275:99:.:.:0,120,1800:.	6	0	1	0
chr14	104946366	104946366	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G8785C:p.E2929Q,AHNAK2:NM_138420:exon7:c.G9085C:p.E3029Q	.	433	1083	6	0	0	6	0.00276243	.	.	.	390167	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.022	.	.	0.0161741	0.0062	0.0009	0.0011	0.0528	0	0.0003	0.0022	0.0152	0.0057891	895	154602	rs192951700	0.0023	0.0024	0.0020	0.0026	0.0311	0.0022	0.0022	0.0297	0.0291	0.0004	0.0009	0.0020	0.0311	0	0.0026	8.733e-05	0.0083	0.0161	0.0035	0.0040	0.0028	0.0041	0.0619	0.0032	0.0031	0.0561	0.0539	0.0007	0	0.0015	0.0029	0.0619	0	0	0.0002	0.0059	0.0281	0.671	0.04548	T	0.534	0.09965	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.835	0.01514	N	6.02	0.00599	T	0.41	0.03407	N	0.132	0.12770	-0.9643	0.38350	T	0.000	0.00152	T	9	0.0035173297	0.00063	T	.	.	.	0.022	0.04323	.	.	0.0138822411134	0.00435	0.008642811397447946	0.00828	.	.	0.200078368187	0.00459	T	0.020	0.16069	T	-0.780172	0.00011	T	-0.847878	0.00987	T	0.000893557040401497	0.00008	T	0.316168	0.06277	T	0.023484753	0.01092	0.024533859	0.00474	0.023484753	0.01092	0.024533859	0.00474	-0.986	0.00984	T	.	.	0.062	0.01328	B	.	.	-1.712554	0.00190	0.003	0.1077389432472611	0.00145	0.00615	0.02724	N	AEFBI	.	.	.	-1.45976311396001	0.02141	0.09422169	-1.46092582869545	0.02673	0.1233625	1.05395675737298E-4	0.05123	0.706548	0.73137	0	0.588066	0.40923	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.24	-0.247	0.12376	-4.227000	0.00308	.	.	-1.992000	0.00454	0.000000	0.06391	.	.	0.000000	0.00833	0.0791:0.3162:0.4257:0.179	5.097	0.14072	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	5590.44	78	chr14	104946366	.	C	G	5590.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.93;DP=1023;ExcessHet=0;FS=2.732;MLEAC=1;MLEAF=0.071;MQ=59.6;MQRankSum=0.581;QD=14.56;ReadPosRankSum=1.08;SOR=0.841	GT:AD:DP:GQ:PL	0/1:178,206:384:99:5601,0,4494	6	0	1	0
chr14	104946756	104946756	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G8395C:p.V2799L,AHNAK2:NM_138420:exon7:c.G8695C:p.V2899L	.	.	.	.	.	.	.	.	.	.	.	2435343	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.064	0.0372655431307	.	.	9.967e-05	0.0004	0	0.0006	0	3.007e-05	0	6.056e-05	7.76e-05	12	154602	rs751143580	4.876e-05	6.43e-05	6.558e-05	3.176e-05	0.0005	3.941e-05	3.619e-05	0.0003	0.0002	0.0005	4.568e-05	0	0.0002	0	0	2.976e-05	0.0002	3.505e-05	0.0002	0.0006	0.0002	0.0002	0.0011	0.0002	0.0001	0.0004	0.0003	0.0004	0	0.0004	0	0.0011	0	0	7.68e-05	0	0	0.225	0.18626	T	0.313	0.19539	T	0.518	0.37483	P	0.226	0.38054	B	.	.	.	.	1	0.81001	D	1.455	0.36767	L	5.66	0.00776	T	-1.56	0.37759	N	0.136	0.13341	-0.9185	0.45756	T	0.005	0.01542	T	9	0.032521933	0.01406	T	0.037266	0.57510	D	0.064	0.18567	0.304	0.27325	0.0297737177859	0.01360	0.0056020981327771745	0.00530	.	.	0.281263887882	0.07669	T	0.021765	0.16896	T	-0.467445	0.00882	T	-0.533384	0.18950	T	0.0210996292355055	0.00812	T	0.562644	0.19782	T	0.04113719	0.06004	0.07096947	0.15143	0.04113719	0.06004	0.07096947	0.15142	-0.904	0.00899	T	.	.	0.122	0.25429	B	.	.	-0.017562	0.04162	1.001	0.92356238754974074	0.21758	0.07556	0.13568	N	AEFBI	.	.	.	-0.501978836871157	0.22015	1.172622	-0.55322393972836	0.20721	1.117648	4.22206282028075E-4	0.06935	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.14	3.24	0.36257	-0.111000	0.10778	-20.000000	0.00162	0.576000	0.29215	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.9008:0.0:0.0992	9.926	0.40663	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2816.46	78	chr14	104946756	.	C	G	2816.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.389;DP=1233;ExcessHet=0;FS=2.036;MLEAC=1;MLEAF=0.071;MQ=55.81;MQRankSum=-0.096;QD=10.2;ReadPosRankSum=0.408;SOR=0.566	GT:AD:DP:GQ:PL	0/0:293,0:293:99:0,120,1800	6	0	1	0
chr14	104946858	104946858	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C8293T:p.P2765S,AHNAK2:NM_138420:exon7:c.C8593T:p.P2865S	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00459470606683	0.0002	.	0.0001	0.0004	0.0002	0	0	3e-05	0	0.0003	8.41e-05	13	154602	rs374832748	6.09e-05	6.567e-05	5.174e-05	7.015e-05	0.0003	5.029e-05	4.673e-05	0.0002	0.0002	0.0003	8.946e-05	0	5.038e-05	0	0	3.508e-05	0.0001	0.0003	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	9.758e-05	0.0002	0.0002	0.0003	0	0.0001	0	0	0	0	7.364e-05	0.0005	0.0006	0.489	0.08018	T	0.529	0.10138	T	0.397	0.34783	B	0.079	0.28749	B	.	.	.	.	1	0.08975	N	0.66	0.16226	N	5.8	0.00668	T	0.74	0.02038	N	0.125	0.11769	-0.9816	0.34632	T	0.002	0.00585	T	9	0.027059168	0.00859	T	0.004595	0.11346	T	0.032	0.07718	.	.	0.0138822411134	0.00435	0.004595366658337027	0.00432	.	.	0.200997397304	0.00487	T	0.015434	0.12947	T	-0.507365	0.00520	T	-0.656053	0.08536	T	0.00622560758553815	0.00069	T	0.536146	0.17993	T	0.0107566705	0.00010	0.03203088	0.01877	0.0107566705	0.00010	0.03203088	0.01876	-7.782	0.59574	D	.	.	0.131	0.28203	B	.	.	0.035207	0.04530	1.226	0.97357981042326147	0.33558	0.02152	0.06328	N	AEFBI	.	.	.	-1.02821519859209	0.08022	0.3746809	-1.07616590139917	0.08171	0.4005975	1.48381084831678E-4	0.05573	0.706548	0.73137	0	0.547309	0.14657	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	2.8	1.8	0.24069	-0.192000	0.09585	-0.386000	0.09508	0.591000	0.32079	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.4146:0.5854:0.0	9.616	0.38858	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	7635.44	78	chr14	104946858	.	G	A	7635.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.914;DP=1524;ExcessHet=0;FS=1.252;MLEAC=1;MLEAF=0.071;MQ=58.32;MQRankSum=-0.949;QD=20.64;ReadPosRankSum=-0.12;SOR=0.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:293,0:293:99:.:.:0,120,1800:.	6	0	1	0
chr14	104946870	104946870	T	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A8281C:p.I2761L,AHNAK2:NM_138420:exon7:c.A8581C:p.I2861L	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0063	0.0081869	0.0074	0.0102	0.0020	0.0272	0.0065	0.0070	0.0089	0.0013	0.0066364	1026	154602	rs181534063	0.0076	0.0076	0.0077	0.0074	0.0156	0.0074	0.0074	0.0146	0.0142	0.0077	0.0031	0.0006	0.0156	0.0086	0.0012	0.0080	0.0086	0.0017	0.0086	0.0091	0.0089	0.0084	0.0334	0.0082	0.0081	0.0293	0.0277	0.0076	0.0022	0.0051	0.0014	0.0334	0.0072	0	0.0094	0.0063	0.0017	0.344	0.12552	T	0.475	0.12072	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.895	0.01383	N	5.82	0.00657	T	0.28	0.04233	N	0.104	0.08786	-0.9421	0.42282	T	0.001	0.00188	T	9	0.003938079	0.00075	T	.	.	.	0.011	0.01250	.	.	0.0138822411134	0.00435	0.0028205695077403265	0.00262	.	.	0.210526704788	0.00834	T	0.023238	0.17773	T	-0.727807	0.00025	T	-0.792458	0.02098	T	0.00528805193497834	0.00057	T	0.235876	0.03275	T	0.02703485	0.01840	0.031516463	0.01751	0.02703485	0.01840	0.031516463	0.01751	-2.677	0.07112	T	.	.	0.087	0.10979	B	.	.	-1.563246	0.00259	0.004	0.39834557148195859	0.02773	0.00108	0.00689	N	AEFBI	.	.	.	-2.00906139452148	0.00202	0.008664793	-2.03463233674781	0.00259	0.01140018	0.133057085688502	0.17129	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.07	-6.15	0.01925	-4.298000	0.00294	-11.402000	0.00608	-3.036000	0.00134	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0919:0.2353:0.5084:0.1644	6.049	0.19001	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001016	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	7745.44	249	chr14	104946870	.	T	G	7745.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.26;DP=1916;ExcessHet=0;FS=1.211;MLEAC=1;MLEAF=0.071;MQ=58.4;MQRankSum=-1.149;QD=19.96;ReadPosRankSum=0.655;SOR=0.629	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:398,0:398:99:.:.:0,120,1800:.	6	0	1	0
chr14	104949281	104949281	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C5870T:p.P1957L,AHNAK2:NM_138420:exon7:c.C6170T:p.P2057L	.	842	668	11	1	0	13	0.00963677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	.	.	0.0670927	0.0002	0.0004	0.0001	0.0001	0	0.0002	0	8.326e-05	0.0033247	514	154602	rs561933027	7.826e-05	0.0005	7.26e-05	8.398e-05	0.0011	6.392e-05	5.83e-05	0.0004	0.0003	0.0005	0.0001	0	0.0001	0	0.0011	1.443e-05	0.0001	0.0005	7.749e-05	0.0011	5.681e-05	9.914e-05	0.0001	3.825e-05	2.801e-05	5.417e-05	3.537e-05	0.0001	0	0	0	0	0	0	5.148e-05	0.0007	0	0.007	0.59928	D	0.006	0.70582	D	0.029	0.19866	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	1.535	0.38868	L	4.88	0.01439	T	-6.02	0.89684	D	0.08	0.05542	-0.9927	0.31906	T	0.009	0.03227	T	9	0.0025387108	0.00038	T	.	.	.	0.081	0.23632	.	.	0.0611884634855	0.05136	0.03771500750535149	0.03717	.	.	0.19974796474	0.00449	T	0.050646	0.28655	T	-0.668646	0.00056	T	-0.740025	0.03889	T	0.0220577902218616	0.00915	T	0.49705	0.15447	T	0.05052777	0.09141	0.0893155	0.20880	0.05052777	0.09141	0.0893155	0.20879	-6.587	0.50953	T	.	.	0.092	0.13737	B	.	.	1.220310	0.16140	12.34	0.43822318891268208	0.03326	0.12080	0.17047	N	AEFBI	.	.	.	-1.62279424807614	0.01155	0.05018956	-1.68153671317487	0.01221	0.05500561	9.65762816530308E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	4.25	0.194	0.14424	0.826000	0.27061	-2.857000	0.03290	-1.837000	0.00584	0.010000	0.18352	0.000000	0.08366	0.000000	0.00833	0.2283:0.0:0.6512:0.1204	7.173	0.24907	982	0.03397	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.003026	0.000000	0.000000	0.011905	0.000000	0.000000	0.010309	0.000000	0.25	352.17	.	chr14	104949281	.	G	A	352.17	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.986;DP=341;ExcessHet=0.6695;FS=0.816;MLEAC=3;MLEAF=0.375;MQ=56.44;MQRankSum=-6.56;QD=1.57;ReadPosRankSum=1.86;SOR=0.75	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	2	0	2	3
chr14	104949306	104949306	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A5845G:p.T1949A,AHNAK2:NM_138420:exon7:c.A6145G:p.T2049A	.	890	610	19	3	0	25	0.0200803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	0.165136	0.0004	0.0006	0	0.0001	0	0.0003	0	0.0010	0.0069598	1076	154602	rs201406401	0.0004	0.0031	0.0003	0.0005	0.0018	0.0004	0.0004	0.0015	0.0014	0.0014	0.0003	0.0006	0.0005	2.672e-05	0.0003	0.0002	0.0006	0.0018	0.0005	0.0027	0.0005	0.0005	0.0010	0.0004	0.0003	0.0007	0.0006	0.0010	0	0.0002	0	0	0	0	0.0003	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.64	0.02118	N	5.92	0.00621	T	0.87	0.01688	N	0.022	0.00372	-0.9740	0.36344	T	0.001	0.00287	T	9	0.0027029812	0.00042	T	.	.	.	0.016	0.02506	.	.	0.0138822411134	0.00435	0.00708365487551219	0.00675	.	.	0.196304097772	0.00357	T	0.015964	0.13288	T	-0.459638	0.00988	T	-0.898015	0.00517	T	0.000721562574598981	0.00007	T	0.190681	0.02037	T	0.02292779	0.00991	0.037992395	0.03572	0.02292779	0.00991	0.037992395	0.03571	0.421	0.00230	T	.	.	0.056	0.00470	B	.	.	-1.055756	0.00696	0.020	0.36831802887168441	0.02392	0.00115	0.00727	N	AEFBI	.	.	.	-2.08686289980388	0.00137	0.005858008	-2.06374372785095	0.00223	0.009847368	5.71204682153802E-4	0.07363	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.87	-3.46	0.04465	-0.796000	0.04680	-15.353000	0.00361	-0.939000	0.02101	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3694:0.2156:0.415	6.357	0.20613	982	0.03397	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.027982	0.093220	0.009967	0.024096	0.000000	0.038462	0.000000	0.025253	0.3333	357.68	19	chr14	104949306	.	T	C	357.68	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-1.977;DP=391;ExcessHet=0.6695;FS=0;MLEAC=3;MLEAF=0.5;MQ=57.34;MQRankSum=-7.827;QD=1.6;ReadPosRankSum=3.31;SOR=0.618	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:21,0:21:0:.:.:0,0,0:.	1	0	2	4
chr14	104949324	104949324	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G5827A:p.A1943T,AHNAK2:NM_138420:exon7:c.G6127A:p.A2043T	.	455	1049	14	4	0	22	0.0103774	.	.	.	2807471	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.021	.	.	0.0163738	0.0002	0.0009	0	0.0002	0	0.0001	0	0.0002	0.0005498	85	154602	rs200010377	5.587e-05	0.0005	5.654e-05	5.519e-05	0.0006	4.516e-05	4.146e-05	0.0004	0.0004	0.0006	0.0002	0	5.066e-05	0	0.0002	1.882e-05	0.0002	0.0001	0.0002	0.0008	0.0002	0.0003	0.0005	0.0002	0.0001	0.0004	0.0003	0.0005	0	9.124e-05	0	0.0002	0	0	4.935e-05	0.0007	0	0.34	0.12714	T	0.41	0.14544	T	0.999	0.77913	D	0.958	0.70027	D	.	.	.	.	1	0.08975	N	1.04	0.26193	L	5.55	0.00874	T	-1.07	0.27876	N	0.079	0.05414	-0.9307	0.44036	T	0.008	0.02720	T	9	0.0046064258	0.00096	T	.	.	.	0.021	0.04004	.	.	0.0401082797425	0.02173	0.00525549496637017	0.00496	.	.	0.213303595781	0.00959	T	0.020106	0.15893	T	-0.567867	0.00228	T	-0.755918	0.03260	T	0.0209839604794979	0.00799	T	0.377062	0.09013	T	0.015034415	0.00119	0.036937363	0.03242	0.015034415	0.00119	0.036937363	0.03241	-6.702	0.51825	T	.	.	0.077	0.06479	B	.	.	0.220959	0.06035	2.475	0.9947742150937795	0.66687	0.01841	0.05704	N	AEFBI	.	.	.	-0.425225448838182	0.24588	1.328673	-0.675545245549276	0.17572	0.9350048	1.65893175846788E-4	0.05721	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.87	0.935	0.18608	-1.254000	0.02984	-8.576000	0.00947	-0.944000	0.02069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1662:0.6467:0.0:0.1871	5.083	0.14002	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.029447	0.113636	0.019284	0.018182	0.000000	0.017241	0.008000	0.016667	0.1429	354.24	35	chr14	104949324	.	C	T	354.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.01;DP=475;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=57.51;MQRankSum=-7.874;QD=1.48;ReadPosRankSum=3.26;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,120,1800:.	5	0	2	0
chr14	104950043	104950043	A	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T5108C:p.V1703A,AHNAK2:NM_138420:exon7:c.T5408C:p.V1803A	.	440	1056	25	1	0	27	0.0126227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	0.00958466	0.0009	0.0049	0.0005	0.0014	0	0.0003	0.0023	0.0010	0.0012613	195	154602	rs145652874	0.0009	0.0026	0.0009	0.0009	0.0159	0.0009	0.0008	0.0148	0.0143	0.0159	0.0020	0.0002	0.0020	0.0002	0.0032	0.0003	0.0019	0.0015	0.0071	0.0099	0.0075	0.0068	0.0241	0.0068	0.0066	0.0228	0.0222	0.0241	0	0.0037	0	0.0021	0	0.0072	0.0004	0.0082	0.0005	0.823	0.02936	T	0.538	0.09829	T	0.01	0.15535	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-1.23	0.00807	N	5.95	0.00612	T	0.83	0.01787	N	0.023	0.00407	-0.9457	0.41698	T	0.000	0.00075	T	9	0.0042342544	0.00085	T	.	.	.	0.014	0.01968	.	.	0.0138822411134	0.00435	0.003104252817684476	0.00289	.	.	0.205832988024	0.00647	T	0.016131	0.13395	T	-0.741744	0.00020	T	-0.819986	0.01452	T	0.0039249460276532	0.00042	T	0.174383	0.01678	T	0.016648958	0.00212	0.028164823	0.01028	0.016648958	0.00212	0.028164823	0.01028	0.606	0.00192	T	.	.	0.074	0.05231	B	.	.	-1.605512	0.00237	0.004	0.24895953066776089	0.01122	0.00079	0.00540	N	AEFBI	.	.	.	-2.08541276212991	0.00138	0.005898899	-2.17211708655396	0.00129	0.005680874	0.00857578015082789	0.11701	0.67177	0.52595	0	0.588015	0.36545	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	2.02	-4.05	0.03730	-5.785000	0.00119	-12.495000	0.00521	-2.579000	0.00240	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4939:0.1884:0.3176:0.0	3.928	0.08771	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010787	0.036082	0.001362	0.008333	0.000000	0.008621	0.013072	0.003846	0.07143	98.44	136	chr14	104950043	.	A	G	98.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.043;DP=1087;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.32;MQRankSum=-6.192;QD=2.46;ReadPosRankSum=-2.451;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:241,0:241:99:.:.:0,120,1800:.	6	0	1	0
chr14	104953797	104953797	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G1354A:p.D452N,AHNAK2:NM_138420:exon7:c.G1654A:p.D552N	.	411	1040	68	3	0	74	0.0343547	.	.	.	2807606	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.019	.	0.0069	0.00798722	0.0082	0.0015	0.0071	0	0.0005	0.0101	0.0111	0.0130	0.0078718	1217	154602	rs45448397	0.0073	0.0073	0.0069	0.0077	0.0406	0.0072	0.0071	0.0363	0.0347	0.0022	0.0066	0.0321	7.557e-05	0.0007	0.0406	0.0066	0.0105	0.0137	0.0067	0.0067	0.0067	0.0066	0.0110	0.0063	0.0062	0.0097	0.0092	0.0018	0	0.0110	0.0343	0.0006	0.0006	0.0306	0.0083	0.0114	0.0104	0.842	0.02796	T	0.408	0.14633	T	0.021	0.18474	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.03	0.03149	T	-0.08	0.08187	N	0.1	0.08227	-0.9097	0.46891	T	0.003	0.00832	T	9	0.0041176975	0.00081	T	.	.	.	0.019	0.03383	.	.	0.0297737177859	0.01360	0.0316760095331914	0.03116	.	.	0.185123771429	0.00150	T	0.022655	0.17431	T	-0.727118	0.00025	T	-0.8062	0.01752	T	0.00461407943591834	0.00049	T	0.309269	0.05988	T	0.016435066	0.00197	0.024356974	0.00454	0.016435066	0.00197	0.024356974	0.00454	-4.588	0.32020	T	.	.	0.109	0.20934	B	.	.	-0.342790	0.02437	0.277	0.97984752298087319	0.37356	0.08243	0.14197	N	AEFDBI	0.071796	0.14307	N	-1.45363581998287	0.02188	0.09635179	-1.48412917277304	0.02474	0.1138519	0.07631154992444	0.15723	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.96	-3.51	0.04397	-1.192000	0.03161	-2.796000	0.03352	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.105:0.2143:0.4064:0.2743	3.143	0.06076	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.031219	0.000000	0.031250	0.058480	0.150000	0.060345	0.021341	0.026515	0.1429	1820.24	159	chr14	104953797	.	C	T	1820.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.66;DP=663;ExcessHet=0.3476;FS=1.936;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.389;SOR=0.872	GT:AD:DP:GQ:PL	0/0:70,0:70:99:0,120,1800	5	0	2	0
chr14	105497363	105497363	C	T	exonic	TEDC1	.	nonsynonymous SNV	TEDC1:NM_001134876:exon5:c.C592T:p.R198W,TEDC1:NM_001134875:exon6:c.C691T:p.R231W,TEDC1:NM_001134877:exon6:c.C469T:p.R157W,TEDC1:NM_001198983:exon6:c.C475T:p.R159W,TEDC1:NM_001367178:exon7:c.C898T:p.R300W	.	416	1091	15	0	0	15	0.00682749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	0.0006	0.0141773	0.0052	0.0007	0.0121	0.0772	0.0263	0.0009	0	0.0047	0.0043014	665	154602	rs80142487	0.0055	0.0056	0.0055	0.0054	0.1476	0.0054	0.0053	0.1443	0.1430	0.0003	0.0227	0.0031	0.1476	0.0053	0.0018	0.0005	0.0043	0.0042	0.0054	0.0054	0.0045	0.0063	0.0896	0.0051	0.0050	0.0829	0.0802	0.0008	0	0.0107	0.0020	0.0896	0.0054	0.0034	0.0008	0.0033	0.0062	0.004	0.72154	D	0.003	0.79402	D	0.999	0.77913	D	0.736	0.55529	P	0.134467	0.02835	N	1.793690	0.999999	0.08975	N	.	.	.	.	.	.	-3.32	0.66780	D	0.138	0.20528	-1.0690	0.09634	T	0.012	0.04510	T	9	0.0025885701	0.00039	T	.	.	.	0.049	0.13647	.	.	.	.	0.17861436567323985	0.17780	0.0171929848995	0.01662	.	.	.	0.054761	0.29816	T	-0.552289	0.00283	T	-0.422281	0.30813	T	0.0386319964435289	0.03444	T	0.754025	0.51702	T	0.11068395	0.26160	0.08612136	0.19930	0.11068395	0.26160	0.08612136	0.19929	-5.247	0.48317	T	.	.	0.098	0.27998	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.049322	0.26049	16.98	0.99702014466185307	0.80729	0.10774	0.16183	N	AEFDBCI	0.118953	0.23238	N	-0.653183646966685	0.17368	0.893091	-0.853410394422318	0.13206	0.6837947	0.999940903294201	0.47345	0.660377	0.49826	0	0.694456	0.67091	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.87	-0.0707	0.13079	-0.852000	0.04416	-0.221000	0.10763	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.0:0.5357:0.0:0.4643	6.252	0.20062	940	0.13648	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006336	0.000000	0.005587	0.000000	0.055556	0.000000	0.022436	0.012097	0.07143	1096.46	36	chr14	105497363	.	C	T	1096.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.38;DP=280;ExcessHet=0;FS=1.637;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.896;SOR=0.571	GT:AD:DP:GQ:PL	0/1:51,47:98:99:1107,0,1107	6	0	1	0
chr15	20534613	20534613	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	163.49	42	chr15	20534613	.	C	*	163.49	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.638;DP=448;ExcessHet=2.5225;FS=4.11;MLEAC=2;MLEAF=0.143;MQ=54.45;MQRankSum=-1.189;QD=0.49;ReadPosRankSum=0.744;SOR=0.929	GT:AD:DP:GQ:PL	0/1:26,40:77:99:1352,0,1043	5	0	2	0
chr15	20534634	20534718	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	0	exonic	GOLGA6L6	.	.	.	.	495	631	268	4	124	400	0.179454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1235.69	42	chr15	20534634	.	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	*	1235.69	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.33;DP=401;ExcessHet=0.4813;FS=4.038;MLEAC=2;MLEAF=0.143;MQ=51.78;MQRankSum=1.12;QD=5.75;ReadPosRankSum=0.373;SOR=0.985	GT:AD:DP:GQ:PL	0/1:0,40:56:99:2087,669,1271	5	0	2	0
chr15	20845872	20845872	T	C	exonic	POTEB;POTEB2	.	nonsynonymous SNV	POTEB2:NM_001277303:exon9:c.A1259G:p.N420S,POTEB:NM_001277304:exon9:c.A1259G:p.N420S	.	436	962	122	2	0	126	0.0614634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1023	0.1962	0.1486	0.1165	0.0769	0.0872	0.0804	0.0657	0.0592295	9157	154602	rs79335648	8.749e-05	6.598e-05	5.516e-05	0.0001	0.0007	4.714e-05	3.515e-05	0.0001	4.787e-05	0	0.0007	0	0.0004	0	0	8.064e-05	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.305	0.14256	T	0.839	0.03621	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	2.32	0.16640	T	-0.63	0.18459	N	0.008	0.00068	.	.	.	.	.	.	.	0.0018360615	0.00025	T	.	.	.	.	.	.	.	.	.	0.006055757321101937	0.00574	1.56174073802	0.88049	0.741252064705	0.73158	T	0.003477	0.02879	T	-0.366787	0.03760	T	-0.76464	0.02949	T	.	.	.	0.39826	0.10085	T	0.023043897	0.01012	0.036473703	0.03101	0.023043897	0.01012	0.036473703	0.03101	-3.291	0.13621	T	.	.	0.079	0.07412	B	.	.	-0.426343	0.02115	0.200	0.31482124279507218	0.01776	0.00335	0.01744	N	AEFI	0.024797	0.01593	N	.	.	.	.	.	.	1.07113283285327E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.4	-2.79	0.05494	-0.085000	0.11215	-10.088000	0.00741	-0.694000	0.04098	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.2288:0.3611:0.0:0.4101	2.473	0.04291	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.094329	0.101266	0.100000	0.132479	0.000000	0.052632	0.083942	0.073171	0.07143	1625.44	33	chr15	20845872	.	T	C	1625.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.173;DP=543;ExcessHet=0;FS=0.923;MLEAC=1;MLEAF=0.071;MQ=38.35;MQRankSum=-2.553;QD=4.99;ReadPosRankSum=1.31;SOR=0.777	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,108,1620	6	0	1	0
chr15	21652117	21652117	A	C	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.A234C:p.L78F	.	465	768	265	24	0	313	0.169281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.738e-06	0.0002	4.777e-06	8.48e-06	8.749e-05	1.79e-06	5e-07	.	.	8.749e-05	0	7.657e-05	0	0	0	3.89e-06	0	0	8.705e-06	0.0001	0	1.8e-05	3.488e-05	0	0	.	.	3.488e-05	0	0	0	0	0	0	0	0	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	0.000108	0.50451	N	0.000000	0.99988	0.19925	P	.	.	.	.	.	.	.	.	.	0.182	0.19728	-1.0434	0.16294	T	0.000	0.00011	T	9	0.0018065572	0.00024	T	.	.	.	.	.	0.381	0.39807	.	.	0.040043207446890695	0.03950	.	.	0.311506986618	0.12134	T	.	.	.	-0.674746	0.00051	T	-0.598182	0.12964	T	0.00326191471079691	0.00034	T	0.287271	0.05164	T	.	.	.	.	.	.	.	.	-0.124	0.00396	T	.	.	0.073	0.04599	B	.;.	.;.	0.850845	0.12232	8.774	0.66924304402247636	0.08201	0.00687	0.02939	N	AEI	.	.	.	-1.62473285776486	0.01146	0.04979641	-1.44264627457213	0.02837	0.1312614	5.3174549639366E-4	0.07248	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.24	2.28	0.27583	-1.083000	0.03507	-0.079000	0.12201	-0.781000	0.03322	0.002000	0.15269	0.160000	0.23254	0.175000	0.21139	0.3717:0.6283:0.0:0.0	9.685	0.39261	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1500.46	36	chr15	21652117	.	A	C	1500.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.47;DP=315;ExcessHet=0;FS=10.716;MLEAC=1;MLEAF=0.071;MQ=28.16;MQRankSum=-0.466;QD=12.61;ReadPosRankSum=1.31;SOR=0.221	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1398	6	0	1	0
chr15	21652190	21652190	C	T	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.C307T:p.L103F	.	442	748	311	21	0	353	0.190914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.129e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.389e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.283	0.21478	T	.	.	.	.	.	.	0.261126	0.15312	N	0.485335	0.999366	0.21303	P	.	.	.	.	.	.	.	.	.	0.103	0.08646	-0.9711	0.36967	T	0.000	0.00011	T	9	0.0015220642	0.00017	T	.	.	.	.	.	.	.	.	.	0.030007910357616414	0.02949	.	.	0.290178626776	0.08949	T	.	.	.	-0.66378	0.00060	T	-0.582431	0.14328	T	0.000522953042824942	0.00004	T	0.540346	0.18307	T	.	.	.	.	.	.	.	.	-5.352	0.40455	T	.	.	0.093	0.14062	B	.;.	.;.	1.025571	0.14055	10.62	0.93500601886041435	0.23307	0.07624	0.13632	N	AEFCI	.	.	.	-0.844437362999696	0.12186	0.5925257	-0.887036193530605	0.12400	0.6376486	3.35547801273524E-4	0.06583	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	0.085	0.13749	-0.579000	0.05927	-1.581000	0.05125	0.268000	0.18485	0.000000	0.06391	0.000000	0.08366	0.409000	0.26983	0.0:0.3722:0.2141:0.4137	3.269	0.06470	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	3079.45	39	chr15	21652190	.	C	T	3079.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.51;DP=493;ExcessHet=0;FS=0.516;MLEAC=1;MLEAF=0.071;MQ=33.58;MQRankSum=0.437;QD=14.95;ReadPosRankSum=-1.455;SOR=0.736	GT:AD:DP:GQ:PL	0/0:103,0:103:99:0,120,1800	6	0	1	0
chr15	21652283	21652283	G	C	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.G400C:p.V134L	.	444	742	317	19	0	355	0.19304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1277263862	0.0001	0.0001	8.806e-05	0.0001	0.0006	8.456e-05	7.79e-05	0.0003	0.0002	0.0006	0.0002	0	0	0	0	9.504e-05	0.0002	9.725e-05	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	0.0008	0	0.0003	0	0	0	0	6.04e-05	0.0020	0	.	.	.	0.136	0.34009	T	.	.	.	.	.	.	0.000469	0.44119	D	0.000000	1	0.08975	P	.	.	.	.	.	.	.	.	.	0.218	0.24385	-0.8916	0.48793	T	0.000	0.00011	T	9	0.001629144	0.00019	T	.	.	.	.	.	0.312	0.28612	.	.	0.07580462846120836	0.07516	.	.	0.250244468451	0.03793	T	.	.	.	-0.532543	0.00371	T	-0.393918	0.34092	T	0.031530545555236	0.02231	T	0.857714	0.54741	D	.	.	.	.	.	.	.	.	-5.754	0.44172	T	.	.	0.162	0.35767	B	.;.	.;.	2.487917	0.32091	18.94	0.99194466592430841	0.55083	0.14978	0.18683	N	AEFHCI	.	.	.	-0.187369143140256	0.33660	1.91217	-0.318033235840288	0.27516	1.527408	0.00464552456930878	0.10654	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	2.26	0.27418	2.575000	0.45689	1.571000	0.27417	0.299000	0.18918	0.133000	0.23395	0.004000	0.18990	0.984000	0.60418	0.2721:0.0:0.7279:0.0	5.367	0.15423	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	3824.49	39	chr15	21652283	.	G	C	3824.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.523;DP=480;ExcessHet=0;FS=9.861;MLEAC=1;MLEAF=0.071;MQ=34.25;MQRankSum=-0.171;QD=19.82;ReadPosRankSum=-0.053;SOR=0.417	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:103,0:103:99:.:.:0,120,1800:.	6	0	1	0
chr15	21652290	21652290	C	A	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.C407A:p.A136D	.	445	758	303	16	0	335	0.180983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325108497	7.359e-05	0.0001	5.407e-05	9.171e-05	0.0002	5.914e-05	5.388e-05	9.719e-05	7.073e-05	4.42e-05	0.0002	0	0	0	0	7.582e-05	0.0001	6.801e-05	8.658e-05	0.0002	7.449e-05	9.95e-05	0.0003	4.464e-05	3.34e-05	7.618e-05	4.051e-05	7.641e-05	0	0.0003	0	0	0	0	2.089e-05	0.0021	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000167	0.48594	D	0.000000	0.0199557	0.39625	P	.	.	.	.	.	.	.	.	.	0.631	0.64478	-0.9692	0.37366	T	0.000	0.00114	T	9	0.002110511	0.00030	T	.	.	.	.	.	.	.	.	.	0.4398908667552438	0.43906	.	.	0.395352125168	0.24421	T	.	.	.	-0.179371	0.23830	T	0.113389	0.77796	D	0.0805372903841944	0.10055	T	0.976052	0.91638	D	.	.	.	.	.	.	.	.	-13.572	0.91582	D	.	.	0.411	0.60193	A	.;.	.;.	4.705929	0.75548	26.4	0.99729135027837246	0.82619	0.93345	0.57969	D	AEFHCI	.	.	.	0.668177313905204	0.77549	6.696248	0.481736136598001	0.66782	4.996887	0.99991764154766	0.45857	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	3.2	0.35826	4.696000	0.61460	5.281000	0.48180	0.268000	0.18485	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	12.276	0.54051	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1086.49	39	chr15	21652290	.	C	A	1086.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.297;DP=475;ExcessHet=0;FS=1.222;MLEAC=1;MLEAF=0.071;MQ=34.34;MQRankSum=0.639;QD=5.69;ReadPosRankSum=0.49;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:103,0:103:99:.:.:0,120,1800:.	6	0	1	0
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.865792	0.833333	0.845109	0.862573	0.900000	0.887931	0.920732	0.867424	0.8571	7281.9	27	chr15	22081297	.	T	C	7281.9	.	AC=12;AF=0.857;AN=14;BaseQRankSum=8.72;DP=836;ExcessHet=0.3476;FS=134.374;MLEAC=12;MLEAF=0.857;MQ=46.84;MQRankSum=-7.545;QD=9.34;ReadPosRankSum=0.422;SOR=7.264	GT:AD:DP:GQ:PL	0/1:415,61:476:99:530,0,11198	0	5	2	0
chr15	22607648	22607648	C	G	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon19:c.G1791C:p.K597N	.	448	1066	8	0	0	8	0.00373832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200813174	0.0010	0.0011	0.0009	0.0011	0.0034	0.0009	0.0009	0.0029	0.0027	0.0023	0.0006	0.0005	0.0034	0.0003	0.0010	0.0008	0.0010	0.0026	0.0013	0.0014	0.0013	0.0012	0.0033	0.0011	0.0010	0.0020	0.0018	0.0023	0	0.0009	0.0009	0.0012	0.0002	0	0.0008	0.0010	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	363.64	19	chr15	22607648	.	C	G	363.64	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.121;DP=183;ExcessHet=0;FS=3.018;MLEAC=1;MLEAF=0.071;MQ=44.18;MQRankSum=-1.247;QD=6.86;ReadPosRankSum=-0.61;SOR=0.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,966:.	6	0	1	0
chr15	22609500	22609500	T	C	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon14:c.A1205G:p.H402R	.	423	1096	3	0	0	3	0.00136674	.	.	.	2817199	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.048	0.000439758110225	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs542802244	0.0008	0.0009	0.0007	0.0010	0.0059	0.0008	0.0008	0.0055	0.0053	0.0031	0.0008	7.658e-05	0.0009	0.0002	0.0011	0.0004	0.0015	0.0059	0.0013	0.0013	0.0010	0.0016	0.0077	0.0012	0.0011	0.0057	0.0051	0.0024	0	0.0009	0	0.0023	0.0002	0	0.0005	0.0005	0.0077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	966.27	39	chr15	22609500	.	T	C	966.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.859;DP=216;ExcessHet=0;FS=6.29;MLEAC=1;MLEAF=0.083;MQ=45.53;MQRankSum=-1.568;QD=21.01;ReadPosRankSum=1.13;SOR=1.248	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1093:.	5	0	1	1
chr15	22768275	22768275	C	0	exonic	GOLGA6L7	.	.	.	.	1270	216	4	27	5	63	0.118367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	396.5	7	chr15	22768275	.	C	*	396.5	.	AC=2;AF=0.25;AN=8;DP=36;ExcessHet=0.6695;FS=0;MLEAC=3;MLEAF=0.375;MQ=57.85;QD=15.86;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:5,0:5:0:.:.:0,0,0:.	2	0	2	3
chr15	22768302	22768302	T	0	exonic	GOLGA6L7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	119.32	7	chr15	22768302	.	T	*	119.32	.	AC=2;AF=0.2;AN=10;DP=29;ExcessHet=0.2119;FS=0;MLEAC=3;MLEAF=0.3;MQ=47.98;QD=8.52;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:3:9:.:.:135,135,135:.	3	0	2	2
chr15	22768342	22768383	CCGCATCTGCTCCTCCTGCTCCCACATCTGCTCCTCCTGCTC	-	exonic	GOLGA6L7	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0005	0.0003	0.0002	0.0007	0.0002	0.0001	0.0001	0.0001	0.0001	0	0.0002	0.0007	0.0005	0.0003	0	0.0003	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	59.96	6	chr15	22768341	.	TCCGCATCTGCTCCTCCTGCTCCCACATCTGCTCCTCCTGCTC	T	59.96	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.28;DP=24;ExcessHet=0;FS=3.31;MLEAC=1;MLEAF=0.083;MQ=59.35;MQRankSum=-0.967;QD=9.99;ReadPosRankSum=-1.282;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:5,0:5:15:.:.:0,15,158:.	5	0	1	1
chr15	22980853	22980853	-	CCGCTGGGGACCCCCCCGGCCGG	exonic	CYFIP1	.	frameshift insertion	CYFIP1:NM_001324119:exon1:c.38_39insCCGGCCGGGGGGGTCCCCAGCGG:p.L14Rfs*34	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1342315221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.315e-05	1.314e-05	2.571e-05	0	6.545e-05	2.19e-06	8.2e-07	.	.	0	0	6.545e-05	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	297.23	28	chr15	22980853	.	C	CCCGCTGGGGACCCCCCCGGCCGG	297.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.743;DP=161;ExcessHet=0;FS=1.527;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=-0.378;SOR=1.061	GT:AD:DP:GQ:PL	0/0:30,0:30:81:0,81,1215	5	0	1	1
chr15	23039414	23039414	C	T	exonic	TUBGCP5	.	nonsynonymous SNV	TUBGCP5:NM_001102610:exon1:c.G130A:p.A44T,TUBGCP5:NM_001354372:exon1:c.G130A:p.A44T,TUBGCP5:NM_001354373:exon1:c.G130A:p.A44T,TUBGCP5:NM_001354374:exon1:c.G130A:p.A44T,TUBGCP5:NM_001354375:exon1:c.G130A:p.A44T,TUBGCP5:NM_001354376:exon1:c.G130A:p.A44T,TUBGCP5:NM_001354377:exon1:c.G130A:p.A44T,TUBGCP5:NM_001354378:exon1:c.G130A:p.A44T,TUBGCP5:NM_052903:exon1:c.G130A:p.A44T	.	418	1097	7	0	0	7	0.00318037	.	.	.	725921	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.060	0.022237899635	.	.	.	.	.	.	.	.	.	.	.	.	.	rs150671482	0.0032	0.0031	0.0031	0.0032	0.0045	0.0031	0.0031	0.0041	0.0040	0.0005	0.0025	0.0051	0	0.0007	0.0033	0.0033	0.0033	0.0045	0.0020	0.0020	0.0024	0.0016	0.0046	0.0019	0.0018	0.0031	0.0026	0.0003	0	0.0027	0.0040	0	0.0003	0.0103	0.0030	0.0057	0.0046	.	.	.	0.08	0.42086	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.31253	.	.	.	.	.	.	.	0.07992759	0.12914	T	.	.	.	.	.	.	.	.	.	0.812660692479773	0.81222	.	.	.	.	.	0.05588	0.30132	T	.	.	.	.	.	.	.	.	.	0.836416	0.50788	T	.	.	.	.	.	.	.	.	-3.603	0.18597	T	.	.	0.099	0.23605	B	.;.	.;.	3.409128	0.47284	22.4	.	.	.	.	.	.	0.345561	0.44067	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.315000	0.51661	2.882000	0.35335	0.596000	0.33519	1.000000	0.71638	0.999000	0.35428	0.955000	0.50612	.	.	.	906	0.23090	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	446.46	48	chr15	23039414	.	C	T	446.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.588;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=-0.77;SOR=0.536	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1083	6	0	1	0
chr15	23327343	23327363	TATCTTCTCCTCCTGCTCCCT	-	exonic	LOC102723623	.	nonframeshift deletion	LOC102723623:NM_001382446:exon8:c.1504_1524del:p.K521_E645delinsMMQEQEEKMGEQEEKMQEQEKMRRQEEKIREQEEKIREQKEKIREQEEKIWEQEEKIREQEEMMQEQEEKMWEQEEKMCEQEEKMQEQEEKMRRQEEKMWEQEVRLRQQEEKMQEHQEHLEAAI*	.	708	752	44	16	2	78	0.0481013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1477931233	0.0009	0.0038	0.0008	0.0010	0.0027	0.0008	0.0008	0.0023	0.0022	0.0011	0.0026	0.0004	0.0007	0.0007	0.0019	0.0006	0.0010	0.0027	0.0002	0.0036	0.0002	0.0002	0.0002	0.0001	0.0001	9.12e-05	6.511e-05	0.0002	0	0.0001	0	0	0.0006	0	0.0002	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	102.23	.	chr15	23327342	.	GTATCTTCTCCTCCTGCTCCCT	G	102.23	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.98;DP=108;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=45.38;MQRankSum=-3.002;QD=4.44;ReadPosRankSum=0.085;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,118,1193:.	4	0	1	2
chr15	23361381	23361381	G	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	434	682	98	9	299	415	0.0783784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	876.74	50	chr15	23361381	.	G	*	876.74	.	AC=5;AF=0.357;AN=14;DP=421;ExcessHet=1.4958;FS=0.825;MLEAC=5;MLEAF=0.357;MQ=54.03;QD=2.34;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,12:88:99:.:.:276,0,3044:.	2	0	5	0
chr15	23364974	23364974	G	C	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon18:c.G1079C:p.S360T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019451411278	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310592451	3.776e-05	5.768e-05	4.875e-05	2.669e-05	0.0001	2.958e-05	2.65e-05	4.385e-05	2.784e-05	6.121e-05	0.0001	0	0	0	0	3.819e-05	5.037e-05	2.343e-05	0.0001	0.0003	0.0001	0.0001	0.0002	7.565e-05	6.234e-05	0.0001	7.743e-05	0.0002	0	0	0	0	0	0	0.0001	0	0	0.063	0.36709	T	0.02	0.58613	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.83	0.24841	T	-2.12	0.48184	N	0.139	0.13769	.	.	.	.	.	.	.	0.2233805	0.39115	T	0.001945	0.03456	T	.	.	.	.	0.69690782451	0.69429	0.1385338662650225	0.13776	1.51099141099	0.87238	.	.	.	.	.	.	-0.511124	0.00495	T	-0.702671	0.05681	T	.	.	.	0.457154	0.13128	T	0.056688678	0.11188	0.07480963	0.16403	0.056688678	0.11187	0.07480963	0.16402	-3.985	0.23578	T	.	.	0.101	0.17530	B	.	.	1.942006	0.24664	16.48	0.54458434983681248	0.05142	0.15751	0.19064	N	AEFI	0.034544	0.04297	N	.	.	.	.	.	.	1.18251137249003E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.829	0.829	0.17984	0.623000	0.24141	0.680000	0.20673	-0.610000	0.04588	0.994000	0.38300	0.998000	0.33993	0.001000	0.02609	0.0:0.0:1.0:0.0	5.153	0.14350	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	662.46	20	chr15	23364974	.	G	C	662.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.502;DP=217;ExcessHet=0;FS=1.011;MLEAC=1;MLEAF=0.071;MQ=33.94;MQRankSum=0.189;QD=10.52;ReadPosRankSum=0.374;SOR=0.909	GT:AD:DP:GQ:PL	0/1:35,28:63:99:673,0,863	6	0	1	0
chr15	23440328	23440328	C	0	exonic	GOLGA6L2	.	.	.	.	950	317	163	50	42	305	0.2932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	43.73	36	chr15	23440328	.	C	*	43.73	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-0.126;DP=394;ExcessHet=4.1913;FS=16.583;MLEAC=4;MLEAF=0.5;MQ=54.16;MQRankSum=0.126;QD=0.32;ReadPosRankSum=0;SOR=3.018	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,7:52:99:0|1:23440319_CT_C:159,0,1762:23440319	1	0	3	3
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11756.5	113	chr15	23440492	.	C	*	11756.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.82;DP=810;ExcessHet=0;FS=0;MLEAC=7;MLEAF=0.583;MQ=58.45;MQRankSum=-0.27;QD=15.03;ReadPosRankSum=0.216;SOR=0.697	GT:AD:DP:GQ:PL	1/0:1,78:150:99:5300,2135,2773	0	0	6	1
chr15	23645870	23645870	G	A	exonic	MAGEL2	.	nonsynonymous SNV	MAGEL2:NM_019066:exon1:c.C1873T:p.H625Y	Schaaf-Yang syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0674409231361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.558	0.09175	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.178	0.19190	.	.	.	.	.	.	.	0.20108393	0.36178	T	0.067441	0.70167	D	.	.	.	.	0.043077524339	0.03247	0.15085357140624267	0.15007	0.195102303501	0.21846	0.575626730919	0.49471	T	0.097739	0.40087	T	-0.238523	0.15538	T	-0.580398	0.14509	T	.	.	.	0.532447	0.17709	T	0.053495474	0.10131	0.13539855	0.32419	0.053495474	0.10131	0.13539855	0.32418	-4.888	0.35600	T	.	.	0.173	0.37858	B	.;.	.;.	3.362843	0.46435	22.3	0.97222935500996144	0.32910	0.08765	0.14646	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.485436142155105	0.20820	0.65757	0.49021	0	0.573888	0.26702	0	0.619478	0.44681	0	0.613276	0.41899	0	.	.	3.43	2.47	0.29113	3.864000	0.55736	7.412000	0.58651	0.586000	0.30580	0.883000	0.31049	1.000000	0.68203	0.905000	0.44082	0.0:0.2126:0.5687:0.2187	6.067	0.19094	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1661.46	42	chr15	23645870	.	G	A	1661.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.95;DP=344;ExcessHet=0;FS=3.346;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=1.28;SOR=0.617	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,99,1485	6	0	1	0
chr15	25862994	25862994	G	C	exonic	ATP10A	.	nonsynonymous SNV	ATP10A:NM_024490:exon1:c.C103G:p.P35A	.	413	1070	38	1	0	40	0.0183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	.	0.00738818	0.0166	0.0042	0.015	0	0	0.0153	0	0.0355	0.0025226	390	154602	rs201984250	0.0102	0.0095	0.0099	0.0106	0.0265	0.0101	0.0100	0.0254	0.0250	0.0017	0.0037	0.0095	3.449e-05	0.0043	0.0099	0.0102	0.0090	0.0265	0.0077	0.0077	0.0076	0.0079	0.0301	0.0074	0.0072	0.0261	0.0246	0.0024	0.0143	0.0061	0.0069	0	0.0040	0.0069	0.0109	0.0052	0.0301	0.4	0.10482	T	0.306	0.26714	T	0.002	0.09854	B	0.002	0.06944	B	0.800728	0.06767	N	1.128570	0.999925	0.19486	N	0.55	0.14455	N	3.0	0.09167	T	-0.6	0.17834	N	0.222	0.24883	-0.9966	0.30865	T	0.037	0.16073	T	10	0.004319489	0.00087	T	.	.	.	0.099	0.28413	.	.	0.425592409813	0.42174	0.26603274096494134	0.26516	0.836547363532	0.67840	0.861666023731	0.91357	D	0.026818	0.19766	T	-0.601268	0.00143	T	-0.622177	0.11015	T	0.00638069958827155	0.00071	T	0.692631	0.30204	T	0.08781295	0.20463	0.11398819	0.27513	0.08781295	0.20463	0.11398819	0.27512	-3.461	0.18876	T	.	.	0.058	0.00670	B	.;.	.;.	2.590312	0.33598	19.39	0.96415717537927481	0.29740	0.72840	0.35640	D	AEFDBCI	0.122009	0.23696	N	-0.265191423867348	0.30502	1.701342	-0.209321729804864	0.31199	1.763522	0.999980345760994	0.51787	0.59774	0.34471	0	0.475579	0.06741	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	3.13	3.13	0.35090	3.120000	0.50123	3.893000	0.40305	0.566000	0.28629	0.748000	0.29111	1.000000	0.68203	0.981000	0.58702	0.0:0.221:0.779:0.0	10.385	0.43315	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009637	0.011628	0.000000	0.006494	0.000000	0.000000	0.020270	0.030172	0.07143	957.63	38	chr15	25862994	.	G	C	957.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.075;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=-2.097;SOR=0.606	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1189	6	0	1	0
chr15	27519984	27519984	T	C	exonic	GABRG3	.	nonsynonymous SNV	GABRG3:NM_033223:exon7:c.T725C:p.V242A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.451	0.0773264377094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.044	0.49663	D	0.163	0.28433	B	0.33	0.42079	B	0.003664	0.34636	N	0.277091	0.998978	0.45795	D	1.97	0.53315	M	-1.17	0.78199	T	-3.49	0.68056	D	0.648	0.65930	-0.1092	0.79886	T	0.474	0.79800	T	10	0.7947922	0.78972	D	0.077326	0.72744	D	0.634	0.85975	0.597	0.72739	0.718253882294	0.71577	0.809673562310199	0.80922	0.882652438319	0.69826	0.814315915108	0.84155	D	0.422946	0.77386	T	0.0942297	0.63662	D	-0.102422	0.63211	T	0.991283178329468	0.81561	D	0.929607	0.73996	D	0.6496237	0.75343	0.656249	0.79872	0.6496237	0.75345	0.656249	0.79873	-9.859	0.73063	D	.	.	0.443	0.67560	A	.;.;.	.;.;.	4.246923	0.64428	24.7	0.99628284238182241	0.75898	0.97503	0.75172	D	AEFGBI	0.871173	0.79243	D	0.315115024971334	0.56925	3.858048	0.430896454192652	0.63498	4.584847	0.999997084445232	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.35	5.35	0.76297	7.719000	0.83716	7.884000	0.72673	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.663	0.68492	988	0.01987	Neurotransmitter-gated ion-channel ligand-binding domain;Neurotransmitter-gated ion-channel ligand-binding domain;Neurotransmitter-gated ion-channel ligand-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr15	27519984	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=189;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1123	6	1	0	0
chr15	28018408	28018408	G	A	exonic	OCA2	.	nonsynonymous SNV	OCA2:NM_000275:exon7:c.C796T:p.R266W,OCA2:NM_001300984:exon7:c.C796T:p.R266W	Albinism, brown oculocutaneous, Autosomal recessive;Albinism, oculocutaneous, type II, Autosomal recessive	1	1490	26	5	0	36	0.0119363	.	.	.	255150	Tyrosinase-positive_oculocutaneous_albinism|not_specified|SKIN/HAIR/EYE_PIGMENTATION_1,_BLUE/NONBLUE_EYES|not_provided	MONDO:MONDO:0008746,MedGen:C0268495,OMIM:203200,Orphanet:79432|MedGen:CN169374|MedGen:C1856895,OMIM:227220|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.186	.	0.0098	0.014976	0.0053	0.0265	0.0016	0.0002	0.0002	0.0021	0	0.0126	0.0050452	780	154602	rs33929465	0.0031	0.0031	0.0029	0.0033	0.0252	0.0030	0.0030	0.0238	0.0233	0.0252	0.0017	0.0044	0.0001	0.0003	0.0042	0.0019	0.0043	0.0122	0.0086	0.0086	0.0087	0.0085	0.0258	0.0082	0.0081	0.0245	0.0240	0.0258	0	0.0027	0.0023	0	0.0002	0	0.0018	0.0057	0.0106	0.002	0.72154	D	0.017	0.60337	D	0.998	0.77913	D	0.857	0.61067	P	0.000471	0.44119	D	0.186492	1	0.08975	N	2.505	0.72935	M	-0.61	0.71779	T	-2.87	0.62747	D	0.305	0.34444	-0.7965	0.55350	T	0.127	0.43442	T	10	0.0064091086	0.00145	T	.	.	.	0.186	0.46104	.	.	0.809321267362	0.80753	0.54446018412479	0.54372	0.100621667693	0.11367	0.296532452106	0.09886	T	0.566389	0.85571	D	-0.384567	0.02915	T	-0.305583	0.44132	T	0.0367755330955021	0.03116	T	0.848615	0.61581	T	0.12093474	0.28447	0.11462598	0.27671	0.12553465	0.29425	0.11925958	0.28786	-6.67	0.51584	T	0.44216703426312537	0.52746	0.100	0.17275	B	.;.	.;.	2.523505	0.32609	19.09	0.99234355712714151	0.56342	0.30715	0.24153	N	AEFDBHCI	0.334163	0.43301	N	-0.425583408007277	0.24575	1.327918	-0.608400826377864	0.19277	1.033552	0.707157374181698	0.22774	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.36	0.00668	0.13389	0.620000	0.24097	0.147000	0.15245	-0.153000	0.12021	0.679000	0.28429	0.000000	0.08366	0.123000	0.19290	0.1453:0.0:0.4719:0.3828	5.802	0.17680	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.005051	0.002717	0.005848	0.000000	0.008621	0.006098	0.007576	0.07143	463.83	27	chr15	28018408	.	G	A	463.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.56;DP=203;ExcessHet=0;FS=2.795;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=0.501;SOR=0.484	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1096	6	0	1	0
chr15	28022561	28022561	G	C	exonic	OCA2	.	nonsynonymous SNV	OCA2:NM_000275:exon6:c.C586G:p.L196V,OCA2:NM_001300984:exon6:c.C586G:p.L196V	Albinism, brown oculocutaneous, Autosomal recessive;Albinism, oculocutaneous, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00961356357669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.46129	T	0.139	0.92824	T	0.51	0.37313	P	0.149	0.34106	B	0.001635	0.38439	N	0.251661	0.906065	0.27604	N	2.38	0.68558	M	0.01	0.62459	T	-0.37	0.29323	N	0.355	0.40063	-0.9951	0.31272	T	0.148	0.47308	T	10	0.24835327	0.42131	T	0.009614	0.25130	T	0.073	0.21317	0.362	0.36711	0.579757117833	0.57647	0.47673000892665995	0.47593	0.130327484436	0.14699	0.376181662083	0.21714	T	0.197223	0.55383	T	-0.0795294	0.39790	T	-0.352015	0.38973	T	0.651706695556641	0.38535	D	0.748825	0.42665	T	0.049560938	0.08819	0.053655542	0.09079	0.049560938	0.08819	0.053655542	0.09079	-5.053	0.50755	T	0.12124467306777613	0.11487	0.097	0.29116	B	.;.;.	.;.;.	2.162644	0.27555	17.50	0.99221921161575199	0.55932	0.84989	0.44088	D	AEFDBHI	0.691528	0.65149	D	-0.0643338035013437	0.38964	2.290329	0.000741057116953853	0.39750	2.361686	0.978040616955769	0.29881	0.553676	0.25195	0	0.588015	0.36545	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	4.84	2.81	0.31971	4.093000	0.57440	3.119000	0.36392	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1029:0.0:0.6011:0.2959	5.276	0.14963	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	83.44	35	chr15	28022561	.	G	C	83.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.65;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=-1.645;SOR=1.179	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1370	6	0	1	0
chr15	28179189	28179189	G	C	exonic	HERC2	.	nonsynonymous SNV	HERC2:NM_004667:exon58:c.C8972G:p.A2991G	Mental retardation, autosomal recessive 38, Autosomal recessive	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.440	0.0391253060199	.	.	.	.	.	.	.	.	.	.	.	.	.	rs928739534	4.108e-06	4.104e-06	1.362e-06	6.882e-06	0.0005	1.48e-06	9.7e-07	0.0001	7.568e-05	0	0	0	0	0	0.0005	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.27080	T	.	.	.	0.997	0.70673	D	0.91	0.64641	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.495	0.37439	L	-1.16	0.78082	T	-1.92	0.44657	N	0.364	0.40565	-0.0751	0.80662	T	0.573	0.84554	D	10	0.41455904	0.56453	T	0.039125	0.58629	D	0.440	0.74377	0.388	0.40951	0.590594912999	0.58735	0.5159273168106074	0.51515	1.61186839032	0.88922	0.873898506165	0.93121	D	0.211812	0.57268	T	0.17405	0.71494	D	0.0122342	0.71127	D	0.867840945720673	0.51783	D	0.943406	0.78638	D	0.20075767	0.42062	0.29866976	0.55901	0.20075767	0.42062	0.29866976	0.55900	-7.148	0.55107	T	0.19613427463315355	0.25897	0.099	0.16626	B	.	.	3.816669	0.55084	23.6	0.99781298823627762	0.86780	0.99395	0.95476	D	AEFBI	0.898399	0.84163	D	0.757005877373284	0.83362	7.99726	0.7737786971548	0.87919	9.39111	0.999999999999366	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	8.039000	0.89191	8.676000	0.78026	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.0:1.0:0.0	19.960	0.97247	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	222.45	30	chr15	28179189	.	G	C	222.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.308;DP=182;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.41;ReadPosRankSum=1.81;SOR=0.892	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,1215	6	0	1	0
chr15	28257189	28257189	T	C	exonic	HERC2	.	nonsynonymous SNV	HERC2:NM_004667:exon17:c.A2389G:p.M797V	Mental retardation, autosomal recessive 38, Autosomal recessive	414	1067	39	2	0	43	0.019752	.	.	.	215493	HERC2-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.041	.	0.0022	0.00199681	0.0026	0.0018	0.0014	0	0	0.0026	0.0122	0.0057	0.0023738	367	154602	rs150930758	0.0018	0.0018	0.0015	0.0020	0.0318	0.0017	0.0017	0.0280	0.0266	0.0027	0.0026	0.0197	0	1.872e-05	0.0318	0.0008	0.0041	0.0060	0.0022	0.0022	0.0022	0.0022	0.0063	0.0020	0.0019	0.0053	0.0049	0.0017	0	0.0063	0.0185	0	0	0.0136	0.0011	0.0043	0.0044	0.271	0.15984	T	.	.	.	0.007	0.14184	B	0.005	0.11217	B	0.000243	0.46924	N	0.235442	0.714068	0.29986	N	1.265	0.31966	L	1.22	0.37052	T	-0.79	0.21860	N	0.174	0.18649	-1.0669	0.10108	T	0.039	0.16806	T	10	0.009844363	0.00221	T	.	.	.	0.041	0.10877	.	.	0.161926535498	0.15789	0.4378179955636888	0.43698	0.744429683914	0.63434	0.363349378109	0.19873	T	0.080154	0.36297	T	-0.521538	0.00431	T	-0.519456	0.20350	T	0.000318426846013935	0.00003	T	0.666933	0.27600	T	0.050658528	0.09184	0.06506797	0.13133	0.050658528	0.09184	0.06506797	0.13133	-1.262	0.01342	T	0.09886509047827896	0.07116	0.059	0.00730	B	.	.	0.446432	0.08165	4.899	0.68021992218274507	0.08531	0.75345	0.36886	D	AEFDBI	0.095707	0.19332	N	-0.716014050531727	0.15571	0.7859163	-0.621457361082256	0.18943	1.014164	0.0122129500113072	0.12295	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.56	0.315	0.15097	1.153000	0.31287	-0.412000	0.09340	-1.403000	0.01139	0.820000	0.29989	0.000000	0.08366	0.027000	0.12703	0.1156:0.1966:0.0:0.6878	5.617	0.16720	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.027615	0.006944	0.027397	0.071429	0.000000	0.026316	0.018657	0.012397	0.07143	1230.46	36	chr15	28257189	.	T	C	1230.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.82;DP=311;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-0.183;SOR=0.703	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	6	0	1	0
chr15	28527435	28527435	C	A	exonic	GOLGA8F;GOLGA8G	.	nonsynonymous SNV	GOLGA8G:NM_001368078:exon8:c.G27T:p.M9I,GOLGA8G:NM_001368080:exon8:c.G27T:p.M9I,GOLGA8G:NM_001350919:exon9:c.G681T:p.M227I,GOLGA8F:NM_001350920:exon9:c.G645T:p.M215I	.	454	1044	21	3	0	27	0.012766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000523040748597	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1268493071	0.0027	0.0030	0.0028	0.0027	0.0183	0.0026	0.0026	0.0141	0.0127	0.0022	0.0049	0.0018	0	0.0004	0.0183	0.0033	0.0038	0.0011	0.0024	0.0027	0.0024	0.0024	0.0033	0.0021	0.0021	0.0025	0.0023	0.0019	0	0.0033	0.0012	0	0.0005	0.0079	0.0028	0.0064	0.0010	0.931	0.02245	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.81	0.10975	T	0.49	0.02993	N	0.06	0.03175	.	.	.	.	.	.	.	0.008204997	0.00186	T	5.23E-4	0.00174	T	.	.	.	.	0.0138822411134	0.00435	0.22901428615377845	0.22816	1.25351651058	0.81861	.	.	.	.	.	.	-0.693542	0.00040	T	-0.769521	0.02784	T	.	.	.	0.333767	0.07077	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40666	B	.	.	-0.934766	0.00869	0.031	0.40862136682954447	0.02911	0.01035	0.03875	N	AEFI	0.042647	0.06644	N	.	.	.	.	.	.	3.77405762741583E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.637	-1.27	0.08863	-0.186000	0.09666	-0.795000	0.07398	-1.187000	0.01379	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.77:0.0:0.23	7.355	0.25886	410	0.82135	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	314.46	34	chr15	28527435	.	C	A	314.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.344;DP=298;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=22.73;MQRankSum=-0.673;QD=2.81;ReadPosRankSum=0.717;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1390	6	0	1	0
chr15	31032927	31032927	T	C	exonic	TRPM1	.	nonsynonymous SNV	TRPM1:NM_001252020:exon21:c.A2765G:p.E922G,TRPM1:NM_002420:exon21:c.A2648G:p.E883G,TRPM1:NM_001252024:exon22:c.A2714G:p.E905G	Night blindness, congenital stationary (complete), 1C, autosomal recessive	.	.	.	.	.	.	.	.	.	.	1157396	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.940	0.314255609982	.	0.000599042	0.0009	0.0001	8.639e-05	0	0	0	0.0022	0.0066	0.0007503	116	154602	rs574652148	0.0004	0.0004	0.0002	0.0007	0.0073	0.0004	0.0004	0.0068	0.0066	2.987e-05	2.236e-05	0	0	0	0.0005	2.698e-06	0.0003	0.0073	0.0002	0.0002	6.423e-05	0.0004	0.0066	0.0002	0.0001	0.0048	0.0042	2.405e-05	0	0	0	0	0	0	0	0	0.0066	0.001	0.91255	D	0.001	0.83351	D	0.925	0.51395	P	0.687	0.53665	P	0.000000	0.84330	D	0.000000	0.999994	0.58761	D	1.495	0.37439	L	-4.48	0.97606	D	-6.52	0.91695	D	0.88	0.87808	1.071	0.98631	D	0.921	0.97402	D	10	0.014354885	0.00302	T	0.314256	0.91280	D	0.940	0.98708	0.571	0.69431	0.718491034691	0.71601	0.857034201713651	0.85666	0.867029497219	0.69248	0.609079539776	0.54185	T	0.616515	0.92467	D	0.17992	0.72036	D	0.489532	0.94392	D	0.132951989204466	0.15653	T	0.932807	0.74830	D	0.90784454	0.92095	0.9618735	0.99071	0.9304826	0.94285	0.9741625	0.99633	-14.08	0.93512	D	0.3833522105023061	0.47747	0.938	0.86772	P	.;.;.;.;.	.;.;.;.;.	5.056152	0.84244	28.3	0.99924903342726334	0.98980	0.93074	0.57261	D	ALL	0.950448	0.96408	D	0.680532862671308	0.78358	6.855243	0.703768566832512	0.82665	7.823582	1.0	0.98316	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.648885	0.59868	0	.	.	5.59	5.59	0.84677	8.010000	0.88153	7.898000	0.73400	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.761	0.77852	819	0.41190	Ion transport domain;.;.;Ion transport domain;Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1636.53	33	chr15	31032927	.	T	C	1636.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.84;DP=291;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=0.809;SOR=0.653	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1270	6	0	1	0
chr15	31063227	31063227	C	T	exonic	TRPM1	.	nonsynonymous SNV	TRPM1:NM_001252020:exon7:c.G907A:p.V303I,TRPM1:NM_002420:exon7:c.G790A:p.V264I,TRPM1:NM_001252024:exon8:c.G856A:p.V286I	Night blindness, congenital stationary (complete), 1C, autosomal recessive	.	.	.	.	.	.	.	.	.	.	842127	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.143	0.0220153325958	.	.	2.488e-05	0.0001	0.0002	0	0	0	0	0	1.94e-05	3	154602	rs199544597	1.642e-05	1.642e-05	1.089e-05	2.2e-05	0.0002	1.111e-05	9.33e-06	4.358e-05	2.767e-05	8.961e-05	0.0001	0	2.519e-05	0	0.0002	5.396e-06	1.656e-05	8.115e-05	2.628e-05	2.627e-05	3.853e-05	1.345e-05	9.649e-05	8.14e-06	5.14e-06	3.249e-05	1.914e-05	9.649e-05	0	0	0	0	0	0	0	0	0	0.022	0.49117	D	0.05	0.48336	T	0.902	0.49745	P	0.256	0.39259	B	0.000007	0.62929	D	0.107611	0.999996	0.58761	D	1.2	0.30300	L	1.3	0.35590	T	-0.93	0.24898	N	0.44	0.47857	-1.0634	0.10926	T	0.134	0.44681	T	10	0.20537493	0.36762	T	0.022015	0.44863	T	0.143	0.38195	.	.	0.493295820912	0.48965	0.4967493473149361	0.49595	0.423858220135	0.42831	0.429023265839	0.29075	T	0.15541	0.49713	T	-0.265254	0.12291	T	-0.36375	0.37617	T	0.241857503244113	0.22505	T	0.762324	0.75597	T	0.17088693	0.37690	0.1473473	0.34874	0.17088693	0.37689	0.1473473	0.34873	-7.842	0.59988	D	0.2490994307617811	0.33725	0.125	0.26294	B	.;.;.;.;.	.;.;.;.;.	4.363318	0.67110	25.1	0.99867916390192724	0.94547	0.98457	0.82976	D	AEFDBI	0.846663	0.76354	D	0.403027991091231	0.61590	4.362041	0.484043530405779	0.66932	5.016883	1.0	0.98316	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.651492	0.60203	0	.	.	5.67	5.67	0.87673	6.153000	0.71612	4.801000	0.44969	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.785	0.96428	814	0.42100	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1975.44	38	chr15	31063227	.	C	T	1975.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.769;DP=349;ExcessHet=0;FS=2.94;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=-0.747;SOR=0.464	GT:AD:DP:GQ:PL	0/1:71,84:155:99:1986,0,1625	6	0	1	0
chr15	31327345	31327345	A	G	exonic	KLF13	.	nonsynonymous SNV	KLF13:NM_001302461:exon1:c.A133G:p.T45A,KLF13:NM_015995:exon1:c.A133G:p.T45A	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0110681774999	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1057070402	4.471e-06	6.84e-06	0	9.231e-06	0.0007	1.31e-06	9.5e-07	0.0001	5.01e-05	0	0	0	0	0	0.0007	3.185e-06	0	0	6.717e-06	6.6e-06	0	1.377e-05	1.492e-05	0	0	.	.	0	0	0	0	0	0	0	1.492e-05	0	0	0.757	0.03512	T	0.739	0.05000	T	0.0	0.02946	B	0.0	0.01387	B	0.151081	0.17966	U	0.522274	1	0.08975	N	-1.04	0.01097	N	2.85	0.10578	T	0.07	0.06138	N	0.039	0.01274	-0.9422	0.42266	T	0.012	0.04463	T	10	0.04428163	0.03367	T	0.011068	0.28311	T	0.030	0.07022	0.203	0.11797	0.151262610727	0.14761	0.15975284077850083	0.15896	1.22684531646	0.81226	0.786715269089	0.79942	T	0.062382	0.31901	T	-0.377128	0.03248	T	-0.779495	0.02468	T	0.0322914190007349	0.02354	T	.	.	.	0.06837938	0.14892	0.03464532	0.02569	0.06837938	0.14892	0.03464532	0.02568	-2.206	0.04069	T	.	.	0.087	0.11027	B	.	.	1.172292	0.15621	11.98	0.73658308391585725	0.10408	0.01070	0.03963	N	ALL	0.029030	0.02668	N	-1.0462033368285	0.07662	0.3566977	-1.02677355937093	0.09198	0.4563049	0.999999999958479	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.619478	0.44681	0	0.492483	0.08430	1	.	.	2.1	0.806	0.17851	0.833000	0.27157	0.397000	0.17956	0.531000	0.24825	0.035000	0.20724	0.001000	0.17328	0.941000	0.48210	0.4114:0.4012:0.1874:0.0	3.571	0.07468	782	0.47442	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	52.27	7	chr15	31327345	.	A	G	52.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.792;DP=114;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.47;ReadPosRankSum=0.697;SOR=1.179	GT:AD:DP:GQ:PL	0/0:32,0:32:82:0,82,827	5	0	1	1
chr15	33066576	33066576	A	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.T1309C:p.S437P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0439174776103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.269e-06	0.0003	8.328e-06	4.195e-06	3.048e-05	2.95e-06	2.14e-06	3.16e-06	2.28e-06	3.048e-05	0	0	0	0	0	7.335e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.149	0.63918	T	0.999	0.90584	D	0.961	0.73157	D	0.013889	0.28700	N	0.367334	.	.	.	.	.	.	0.86	0.52416	T	-1.05	0.30140	N	0.667	0.67564	-0.3122	0.74643	T	0.279	0.65058	T	8	0.56316704	0.64902	D	0.043917	0.61227	D	0.118	0.32913	0.237	0.16760	0.692833615445	0.69019	.	.	0.0243119155432	0.02469	.	.	.	.	.	.	0.065645	0.60314	T	-0.143482	0.59815	T	0.97686767578125	0.71575	D	.	.	.	.	.	.	.	.	.	.	.	-11.775	0.83737	D	.	.	0.768	0.82694	P	.;.	.;.	1.889637	0.24000	16.23	0.99337903151617613	0.60051	0.70445	0.34593	D	AEFBCI	0.339556	0.43666	N	0.607978743589503	0.73679	6.005621	0.621611519535191	0.76513	6.504682	0.999997974355125	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	2.674000	0.46532	7.052000	0.57375	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.859000	0.40722	0.8664:0.0:0.0:0.1336	11.519	0.49792	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1421.39	77	chr15	33066576	.	A	G	1421.39	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.25;DP=407;ExcessHet=3.1439;FS=230.13;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=4.47;ReadPosRankSum=1.48;SOR=6.9	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,27:103:99:.:.:909,0,2883:.	2	0	4	1
chr15	33066577	33066577	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1308C:p.E436D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.0297600126912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.862e-07	0.0001	0	1.379e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.31834	T	0.298	0.32355	T	0.859	0.61523	P	0.569	0.58136	P	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.34	0.59717	T	-1.06	0.27669	N	0.523	0.55280	-0.6555	0.62473	T	0.195	0.54913	T	8	0.3596483	0.52628	T	0.02976	0.52206	D	0.121	0.33580	0.179	0.08626	0.723881056707	0.72144	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.156676	0.27274	T	-0.46283	0.26291	T	0.960661649703979	0.65867	D	.	.	.	.	.	.	.	.	.	.	.	-8.241	0.62700	D	.	.	0.231	0.54353	B	.;.	.;.	0.926501	0.13016	9.521	0.9948329941711106	0.67014	0.72494	0.35481	D	AEFBCI	0.313711	0.41879	N	0.240855582260182	0.53189	3.48888	0.245955025105221	0.52420	3.416909	0.999871332870031	0.44625	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	3.06	0.34374	0.207000	0.17194	0.009000	0.13411	0.599000	0.40250	0.983000	0.35670	0.800000	0.26941	0.903000	0.43903	0.1331:0.5968:0.0:0.2702	5.341	0.15286	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	791.31	77	chr15	33066577	.	C	G	791.31	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.61;DP=397;ExcessHet=3.1439;FS=238.759;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.58;ReadPosRankSum=1.41;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,17:101:99:.:.:755,0,2888:.	2	0	4	1
chr15	33066579	33066579	C	T	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1306A:p.E436K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0640291295364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.172	0.63918	T	0.999	0.90584	D	0.984	0.76113	D	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.21	0.61798	T	-1.7	0.49684	N	0.735	0.73826	-0.3008	0.74963	T	0.421	0.76630	T	8	0.7212701	0.73678	D	0.064029	0.69152	D	0.219	0.51417	0.231	0.15855	0.748136256137	0.74586	.	.	0.0231449100248	0.02349	.	.	.	.	.	.	0.142383	0.68551	D	-0.0332535	0.68153	D	0.952831566333771	0.63885	D	.	.	.	.	.	.	.	.	.	.	.	-12.099	0.85330	D	.	.	0.586	0.71819	P	.;.	.;.	2.594882	0.33671	19.41	0.99883603428231948	0.95892	0.93420	0.58169	D	AEFBCI	0.825608	0.74527	D	0.777670272844729	0.84690	8.359056	0.801274126872763	0.89881	10.16146	0.99999999999998	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	6.672000	0.74315	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	20.422	0.99051	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	448.01	77	chr15	33066579	.	C	T	448.01	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.34;DP=411;ExcessHet=1.1394;FS=190.15;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.87;ReadPosRankSum=0.475;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,17:101:99:.:.:755,0,2888:.	4	0	2	1
chr15	33066579	33066579	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1306C:p.E436Q	.	.	.	.	.	.	.	.	.	.	.	3676472	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.220	0.0465556673304	.	.	2.721e-05	0	0	0	0	4.859e-05	0	0	1.94e-05	3	154602	rs955154800	2.466e-05	2.805e-05	3.135e-05	1.79e-05	3.15e-05	1.806e-05	1.603e-05	2.287e-05	2.024e-05	0	0	0	0	1.874e-05	0	3.15e-05	0	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.003	0.68238	D	0.286	0.60972	T	1.0	0.90584	D	0.989	0.81110	D	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.2	0.61923	T	-1.07	0.39314	N	0.607	0.62442	-0.3966	0.72134	T	0.409	0.75810	T	8	0.5905696	0.66356	D	0.046556	0.62513	D	0.220	0.51569	0.204	0.11936	0.824378962961	0.82271	.	.	0.0221738766814	0.02225	.	.	.	.	.	.	-0.0740485	0.40679	T	-0.236485	0.51141	T	0.808419227600098	0.46935	D	.	.	.	.	.	.	.	.	.	.	.	-8.327	0.63277	D	.	.	0.419	0.64113	A	.;.	.;.	2.541376	0.32879	19.17	0.99614688724551159	0.75052	0.94574	0.61609	D	AEFBCI	0.820935	0.74161	D	0.762264303690397	0.83701	8.086839	0.787779339582059	0.88930	9.771612	0.99999999999998	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	6.672000	0.74315	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	20.422	0.99051	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	448.01	77	chr15	33066579	.	C	G	448.01	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.34;DP=411;ExcessHet=1.1394;FS=190.15;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.87;ReadPosRankSum=0.475;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:74,8:101:99:.:.:755,431,3512:.	5	0	1	1
chr15	33066580	33066580	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1305C:p.K435N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.097882166908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	3.42e-06	0	2.755e-06	2.52e-05	2.3e-07	9e-08	.	.	0	0	0	2.52e-05	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.154	0.70582	T	1.0	0.90584	D	0.999	0.97372	D	0.000001	0.62929	D	0.096983	.	.	.	.	.	.	-0.38	0.72458	T	-2.13	0.59389	N	0.608	0.62526	0.078	0.83767	D	0.453	0.78650	T	8	0.56676614	0.65094	D	0.097882	0.76848	D	0.261	0.57352	0.305	0.27485	0.831138789675	0.82953	.	.	0.0235372491196	0.02386	.	.	.	.	.	.	-0.0593099	0.43016	T	-0.322971	0.42248	T	0.990393579006195	0.80614	D	.	.	.	.	.	.	.	.	.	.	.	-10.821	0.78667	D	.	.	0.891	0.85423	P	.;.	.;.	1.014109	0.13930	10.49	0.99542673395090209	0.70586	0.65955	0.32912	D	AEFBCI	0.401493	0.47596	N	0.357394877581215	0.59132	4.09007	0.32151679407882	0.56807	3.84457	0.999972656303353	0.50053	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	-0.266000	0.08660	-0.170000	0.11235	0.599000	0.40250	0.526000	0.27158	0.290000	0.24159	0.957000	0.51019	0.0:0.7827:0.0:0.2173	10.418	0.43521	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	521.25	77	chr15	33066580	.	C	G	521.25	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.941;DP=411;ExcessHet=1.1394;FS=179.184;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.28;ReadPosRankSum=0.486;SOR=7.7	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,16:98:99:.:.:777,0,3013:.	3	0	3	1
chr15	33066583	33066583	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1302C:p.E434D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0174432321193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.18061	T	0.252	0.29056	T	0.724	0.62824	P	0.292	0.58300	B	0.000000	0.84330	D	0.049723	.	.	.	.	.	.	1.03	0.48142	T	-0.87	0.23590	N	0.263	0.29774	-0.6821	0.61275	T	0.170	0.51052	T	8	0.18176183	0.33423	T	0.017443	0.39139	T	0.205	0.49236	0.196	0.10839	0.633120732306	0.63011	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.101551	0.36169	T	-0.383648	0.35295	T	0.987011551856995	0.77596	D	.	.	.	.	.	.	.	.	.	.	.	-7.933	0.60613	D	.	.	0.457	0.69267	A	.;.	.;.	1.631232	0.20829	14.93	0.99234608538238822	0.56342	0.62108	0.31682	D	AEFBCI	0.207444	0.33361	N	0.193011064254835	0.50863	3.272384	0.226642513300989	0.51332	3.316546	0.999944989826091	0.47345	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	0.147000	0.16021	1.800000	0.28874	0.599000	0.40250	0.988000	0.36536	1.000000	0.68203	0.964000	0.52637	0.0:0.7464:0.0:0.2536	10.665	0.44923	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	987.91	75	chr15	33066583	.	C	G	987.91	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.067;DP=426;ExcessHet=1.1394;FS=255.575;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.08;ReadPosRankSum=0.6;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,21:104:99:.:.:832,0,2886:.	5	0	1	1
chr15	33662923	33662923	G	A	exonic	RYR3	.	nonsynonymous SNV	RYR3:NM_001036:exon35:c.G5393A:p.R1798Q,RYR3:NM_001243996:exon35:c.G5393A:p.R1798Q	.	1	1520	1	0	0	1	0.000328839	.	.	.	464846	Epileptic_encephalopathy|not_provided	Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.069	0.0120946163499	0.0005	0.000599042	0.0007	0.0001	0.0009	0	0	0.0010	0.0034	0.0002	0.0007374	114	154602	rs148818748	0.0008	0.0008	0.0008	0.0008	0.0016	0.0008	0.0008	0.0013	0.0011	0.0002	0.0015	0	2.519e-05	0.0002	0.0016	0.0009	0.0007	0.0003	0.0010	0.0010	0.0009	0.0010	0.0032	0.0008	0.0008	0.0025	0.0022	0.0003	0	0.0032	0	0	9.416e-05	0	0.0011	0.0009	0.0004	0.089	0.32141	T	.	.	.	0.89	0.48942	P	0.261	0.39516	B	0.076687	0.21148	N	0.435503	0.727036	0.33678	D	1.32	0.33002	L	-0.65	0.72237	T	-1.68	0.40082	N	0.56	0.58458	-0.5538	0.66642	T	0.190	0.54213	T	10	0.033837706	0.01571	T	0.012095	0.30348	T	0.069	0.20116	.	.	0.627531238784	0.62449	0.24972037225970528	0.24886	0.215774892835	0.24110	0.509281754494	0.40121	T	0.373449	0.73744	T	-0.372084	0.03490	T	-0.313725	0.43257	T	0.0163362692814063	0.00403	T	0.934007	0.75281	D	0.1122082	0.26509	0.08620373	0.19957	0.1122082	0.26509	0.08620373	0.19956	-5.062	0.37505	T	.	.	0.105	0.19316	B	.;.;.;.;.	.;.;.;.;.	3.060710	0.41100	21.3	0.99843135155694984	0.92316	0.94968	0.62960	D	AEFI	0.413851	0.48336	N	0.209972052085901	0.51682	3.347555	0.304552988481508	0.55806	3.743499	0.0326659759501655	0.14066	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.98	4.98	0.65679	2.296000	0.43245	5.198000	0.47923	0.668000	0.69082	0.885000	0.31090	0.984000	0.30665	0.698000	0.34080	0.078:0.0:0.922:0.0	12.176	0.53490	932	0.16191	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1978.53	39	chr15	33662923	.	G	A	1978.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.102;DP=331;ExcessHet=0;FS=3.275;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=0.508;SOR=0.434	GT:AD:DP:GQ:PL	0/1:54,76:130:99:1989,0,1345	6	0	1	0
chr15	33871032	33871033	TA	-	splicing	AVEN	NM_020371:exon4:r.spl	.	.	.	456	1055	9	0	2	11	0.00424729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0038	0.0028	0.0023	0.0009	0.0010	0.0030	0.0066	0.0092	0.0010758	28	26028	rs762023446	0.0009	0.0067	0.0009	0.0009	0.0012	0.0009	0.0008	0.0009	0.0008	0.0012	0.0004	0.0006	0.0009	0.0007	0.0011	0.0009	0.0010	0.0010	6.63e-06	6.585e-05	0	1.359e-05	1.476e-05	0	0	.	.	0	0	0	0	0	0	0	1.476e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	55.47	16	chr15	33871031	.	CTA	C	55.47	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.383;DP=70;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PL	0/0:15,0:15:15:0,15,225	5	0	1	1
chr15	34359248	34359248	G	C	exonic	LPCAT4	.	nonsynonymous SNV	LPCAT4:NM_153613:exon14:c.C1454G:p.T485S	.	429	1089	4	0	0	4	0.00183318	.	.	.	3284171	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.207	0.0264043269081	0.0002	0.000399361	0.0005	0	0	0.0006	0	0.0005	0	0.0009	0.0001746	27	154602	rs201047365	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0002	0.0012	0.0010	3.084e-05	0.0001	0.0001	0	0	0.0021	0.0002	0.0002	0.0008	0.0002	0.0002	0.0001	0.0003	0.0010	0.0002	0.0001	0.0004	0.0003	0	0	0	0.0006	0.0002	0	0	0.0004	0	0.0010	0.326	0.13306	T	0.194	0.29346	T	0.012	0.16265	B	0.014	0.16862	B	0.013040	0.28974	N	0.399491	0.979346	0.25188	N	1.67	0.42885	L	-1.41	0.80560	T	-0.89	0.24026	N	0.139	0.30800	-0.7715	0.56775	T	0.376	0.73401	T	10	0.03060332	0.01188	T	0.026404	0.49319	D	0.207	0.49555	0.243	0.17677	0.340432005269	0.33650	0.1538568825413111	0.15307	0.0103819090981	0.00952	0.429844588041	0.29186	T	0.021353	0.16640	T	-0.264653	0.12359	T	-0.254899	0.49333	T	0.0116890933627776	0.00179	T	0.553645	0.25361	T	0.08405827	0.19440	0.09838594	0.23454	0.08405827	0.19439	0.09838594	0.23454	-4.018	0.24072	T	.	.	0.116	0.27762	B	.;.	.;.	3.166715	0.42928	21.6	0.97862452744372641	0.36472	0.95072	0.63335	D	AEFDBI	0.613050	0.60089	D	-0.0454744949851482	0.39806	2.353352	0.149672728781045	0.47125	2.94746	0.999999999311776	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	5.205000	0.65020	11.815000	0.97057	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	16.165	0.81564	667	0.61242	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	529.49	35	chr15	34359248	.	G	C	529.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.364;DP=233;ExcessHet=0;FS=1.078;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=-0.416;SOR=0.527	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1220	6	0	1	0
chr15	38322274	38322274	A	G	exonic	SPRED1	.	nonsynonymous SNV	SPRED1:NM_152594:exon3:c.A241G:p.I81V	Legius syndrome, Autosomal dominant	5	1514	3	0	0	3	0.000989772	.	.	.	2037378	Legius_syndrome|Cardiovascular_phenotype	MONDO:MONDO:0012669,MedGen:C1969623,OMIM:611431,Orphanet:137605|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.356	0.0345527399339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.421e-06	3.42e-06	2.723e-06	4.126e-06	0.0002	1e-06	7.3e-07	.	.	0	0	0	0	0	0.0002	8.994e-07	3.312e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.000002	0.62929	D	0.100701	0.650511	0.32959	D	-0.465	0.02725	N	-4.91	0.98352	D	0.64	0.02368	N	0.085	0.06190	0.108	0.84313	D	0.670	0.88564	D	10	0.1555889	0.29322	T	0.034553	0.55756	D	0.356	0.67691	0.426	0.47185	0.422182357427	0.41838	0.3055993879931948	0.30472	0.287075476058	0.31106	0.461811125278	0.33559	T	0.411335	0.76581	T	0.0301939	0.55749	T	-0.194405	0.55176	T	0.163136258721352	0.18100	T	0.616838	0.23625	T	0.0780809	0.17761	0.068972155	0.14474	0.0780809	0.17760	0.068972155	0.14474	-1.394	0.01561	T	0.05652270401119524	0.01318	0.080	0.07985	B	.;.	.;.	2.283463	0.29200	18.05	0.59521154653640318	0.06244	0.77667	0.38214	D	AEFBI	0.123070	0.23850	N	-0.531167739395005	0.21078	1.115986	-0.235354290377813	0.30280	1.703487	0.999958058063304	0.48110	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.633917	0.49826	0	.	.	5.93	4.8	0.61157	3.958000	0.56444	7.130000	0.57621	-0.093000	0.16093	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.7742:0.0:0.2258:0.0	8.092	0.29969	938	0.14419	WH1/EVH1 domain|WH1/EVH1 domain|WH1/EVH1 domain;WH1/EVH1 domain|WH1/EVH1 domain|WH1/EVH1 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	605.27	26	chr15	38322274	.	A	G	605.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.339;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-0.032;SOR=0.628	GT:AD:DP:GQ:PL	0/1:20,27:47:99:615,0,449	5	0	1	1
chr15	38481332	38481332	G	A	exonic	FAM98B	.	nonsynonymous SNV	FAM98B:NM_173611:exon7:c.G770A:p.R257H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549	0.0284180959536	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs768788629	2.189e-05	2.189e-05	2.314e-05	2.063e-05	5.039e-05	1.584e-05	1.356e-05	1.46e-05	1.227e-05	0	4.472e-05	7.653e-05	5.039e-05	0	0	2.158e-05	3.311e-05	0	1.973e-05	1.971e-05	1.285e-05	2.693e-05	2.94e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0.0003	0	0	0	2.94e-05	0	0	0.004	0.78490	D	0.003	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.965	0.85198	M	0.44	0.56609	T	-4.21	0.75776	D	0.899	0.89912	-0.1739	0.78333	T	0.383	0.73892	T	10	0.9719173	0.96819	D	0.028418	0.51097	D	0.549	0.81310	0.945	0.99302	0.780464285253	0.77844	0.6513580319407026	0.65071	0.616997827486	0.56145	0.592360854149	0.51828	T	0.42082	0.77241	T	0.208311	0.74670	D	0.237294	0.85019	D	0.951345920562744	0.63539	D	0.910209	0.69728	D	0.55156326	0.70043	0.4760972	0.69643	0.55156326	0.70044	0.4760972	0.69643	-3.48	0.16153	T	.	.	0.888	0.81984	P	.;.	.;.	5.349613	0.89743	31	0.99935228532647202	0.99579	0.99498	0.96759	D	AEFGBI	0.803256	0.72845	D	0.756278471067783	0.83315	7.984977	0.687306535416942	0.81413	7.521155	0.999999999999986	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.71	4.71	0.59010	9.714000	0.97983	8.598000	0.77715	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	18.202	0.89776	892	0.26670	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	915.46	33	chr15	38481332	.	G	A	915.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.76;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.011;SOR=0.677	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1174	6	0	1	0
chr15	39582451	39582451	G	A	exonic	THBS1	.	nonsynonymous SNV	THBS1:NM_003246:exon3:c.G326A:p.R109Q	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0022739924585	.	.	7.442e-05	0	0	0	0	9.03e-05	0	0.0002	5.82e-05	9	154602	rs760740907	5.336e-05	5.404e-05	3.131e-05	7.563e-05	0.0003	4.344e-05	4.017e-05	0.0002	0.0002	8.961e-05	8.944e-05	0.0003	2.519e-05	0	0.0003	2.698e-05	0.0001	0.0003	2.626e-05	2.625e-05	0	5.37e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.996e-05	0	0	0	0.0003	0	0	0	0	0	0.0006	0.22	0.18956	T	0.166	0.30828	T	0.005	0.12996	B	0.0	0.01387	B	0.004971	0.33218	N	0.000000	0.650671	0.32960	D	1.5	0.37844	L	4.43	0.02158	T	-0.41	0.14000	N	0.212	0.23632	-1.0296	0.20583	T	0.009	0.03011	T	10	0.08960965	0.15538	T	0.002274	0.04342	T	0.063	0.18251	.	.	0.221890330934	0.21812	0.6158812582087415	0.61520	0.501067798211	0.48504	0.336213439703	0.15870	T	0.187385	0.54097	T	-0.398812	0.02357	T	-0.536342	0.18658	T	0.077579140663147	0.09675	T	0.89491	0.63503	D	0.1914333	0.40770	0.11592842	0.27985	0.1914333	0.40770	0.11592842	0.27984	-4.366	0.29092	T	.	.	0.082	0.08851	B	.	.	3.141561	0.42488	21.5	0.99856911964105555	0.93548	0.40001	0.26339	N	AEFDBHCI	0.147263	0.27090	N	-0.06665032343	0.38862	2.282684	0.0998808446085895	0.44544	2.734033	0.999999944874239	0.74766	0.675202	0.55065	0	0.563428	0.19063	0	0.696144	0.63334	0	0.756233	0.99697	0	.	.	5.28	4.29	0.50359	2.110000	0.41497	1.756000	0.28514	0.676000	0.76740	0.996000	0.39380	0.970000	0.29701	0.998000	0.85391	0.1353:0.0:0.8647:0.0	11.654	0.50567	876	0.30350	Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	130.44	33	chr15	39582451	.	G	A	130.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.92;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=0.549;SOR=0.883	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,114,1710	6	0	1	0
chr15	39588622	39588622	C	T	exonic	THBS1	.	nonsynonymous SNV	THBS1:NM_003246:exon10:c.C1568T:p.T523I	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00971750780854	.	.	1.703e-05	9.707e-05	0	0	0	1.522e-05	0	0	1.29e-05	2	154602	rs748012239	1.37e-06	1.368e-06	1.363e-06	1.378e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	1.314e-05	1.313e-05	2.569e-05	0	4.827e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	0	0	0	0.093	0.31532	T	0.197	0.27855	T	0.026	0.19406	B	0.012	0.16012	B	0.557327	0.11372	N	0.716432	0.998808	0.21894	N	1.105	0.28596	L	0.17	0.60485	T	-0.84	0.22944	N	0.182	0.19728	-1.0137	0.25752	T	0.101	0.37543	T	10	0.07813692	0.12418	T	0.009718	0.25381	T	0.044	0.11924	0.462	0.53079	0.390913227754	0.38705	0.42519809564220296	0.42436	0.503164557005	0.48655	0.247804701328	0.03539	T	0.126807	0.45344	T	-0.261647	0.12708	T	-0.431468	0.29769	T	0.039424900795543	0.03586	T	0.715028	0.32735	T	0.13737878	0.31811	0.093699224	0.22143	0.13737878	0.31811	0.093699224	0.22143	-6.141	0.47444	T	.	.	0.068	0.02670	B	.	.	1.929242	0.24505	16.42	0.99234264705903741	0.56310	0.11374	0.16591	N	ALL	0.142685	0.26519	N	-0.617610405441943	0.18415	0.955887	-0.527967546019152	0.21395	1.157206	0.999999799768602	0.74766	0.675202	0.55065	0	0.563428	0.19063	0	0.702456	0.68683	0	0.756233	0.99697	0	.	.	5.87	1.48	0.21900	0.488000	0.22080	1.840000	0.29181	0.599000	0.40250	0.001000	0.13787	0.003000	0.18671	0.991000	0.66497	0.2784:0.495:0.0:0.2267	4.931	0.13269	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	452.27	55	chr15	39588622	.	C	T	452.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.863;DP=225;ExcessHet=0;FS=2.276;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.22;ReadPosRankSum=-0.486;SOR=0.586	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	1
chr15	40459848	40459848	G	T	exonic	BAHD1	.	nonsynonymous SNV	BAHD1:NM_001301132:exon2:c.G1384T:p.A462S,BAHD1:NM_014952:exon2:c.G1384T:p.A462S	.	420	1088	11	3	0	17	0.00775194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0196622205009	.	0.00199681	0.0010	9.664e-05	0.0006	0	0	0.0002	0.0011	0.0070	0.000912	141	154602	rs372997308	0.0005	0.0005	0.0003	0.0007	0.0069	0.0005	0.0005	0.0064	0.0062	5.997e-05	0.0004	0	0	0	0.0012	9.748e-05	0.0005	0.0069	0.0004	0.0004	0.0003	0.0006	0.0085	0.0004	0.0003	0.0064	0.0057	0.0001	0	0.0004	0	0	0	0	0.0002	0.0009	0.0085	0.007	0.59928	D	0.643	0.06903	T	0.028	0.19712	B	0.047	0.24832	B	0.579095	0.11161	N	0.817411	1	0.08975	N	-0.345	0.03330	N	0.41	0.57100	T	-0.2	0.10136	N	0.111	0.09772	-1.0113	0.26510	T	0.067	0.27640	T	10	0.0046699047	0.00098	T	0.019662	0.42079	T	0.023	0.04649	0.343	0.33626	0.259504319725	0.25562	0.16432030732101519	0.16352	0.225734295107	0.25122	0.250678598881	0.03840	T	0.06064	0.31441	T	-0.582152	0.00187	T	-0.605411	0.12360	T	0.00939331955240208	0.00120	T	0.754824	0.37774	T	0.04374213	0.06871	0.045280524	0.06056	0.04374213	0.06871	0.045280524	0.06056	-3.135	0.11903	T	.	.	0.080	0.13362	B	.;.;.	.;.;.	-0.239254	0.02897	0.416	0.94081081147642942	0.24231	0.18427	0.20256	N	AEFDBCI	0.101965	0.20467	N	-1.085743917904	0.06905	0.3192281	-1.0698527257442	0.08299	0.4074101	0.999934709088128	0.46732	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	6.08	-1.47	0.08312	0.127000	0.15617	0.156000	0.15349	0.676000	0.76740	0.001000	0.13787	0.000000	0.08366	0.016000	0.10718	0.4852:0.1122:0.4025:0.0	7.716	0.27870	581	0.69614	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	842.44	77	chr15	40459848	.	G	T	842.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.654;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.637;SOR=0.664	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr15	41096253	41096253	G	C	exonic	INO80	.	nonsynonymous SNV	INO80:NM_017553:exon2:c.C58G:p.L20V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.499	0.230949694038	.	.	8.341e-06	0	0	0	0	1.513e-05	0	0	6.5e-06	1	154602	rs766496543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.07	0.43721	T	0.993	0.65571	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.755	0.45626	L	-3.11	0.92721	D	-0.97	0.25770	N	0.658	0.68255	0.770	0.94036	D	0.844	0.94774	D	10	0.575322	0.65547	D	0.23095	0.88253	D	0.499	0.78288	0.236	0.16608	0.661633646292	0.65880	0.5260119555163638	0.52525	0.310035681446	0.33317	0.780231118202	0.78962	T	0.05765	0.30625	T	0.170503	0.71171	D	0.00713946	0.70798	D	0.634292668284165	0.37796	D	0.927907	0.73422	D	0.27592942	0.50656	0.27308488	0.53225	0.27592942	0.50655	0.27308488	0.53224	-4.238	0.27298	T	.	.	0.140	0.33846	B	.;.;.	.;.;.	4.624555	0.73463	26.0	0.99802759949871023	0.88728	0.98127	0.79829	D	AEFDBCI	0.868620	0.78881	D	0.846005111031047	0.88879	9.747598	0.867441971670391	0.93991	12.42632	0.999999999923393	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.9	5.9	0.94952	9.602000	0.97623	11.835000	0.97647	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.272	0.98481	295	0.88218	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	169.06	38	chr15	41096253	.	G	C	169.06	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.815;DP=293;ExcessHet=0.3476;FS=107.547;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=2.03;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1038:.	5	0	2	0
chr15	41568965	41568965	G	A	exonic	TYRO3	.	nonsynonymous SNV	TYRO3:NM_001330264:exon9:c.G1060A:p.A354T,TYRO3:NM_006293:exon9:c.G1195A:p.A399T	.	425	1084	13	0	0	13	0.00596057	.	.	.	2380029	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.061	0.00886099944089	7.7e-05	0.000798722	0.0002	9.626e-05	0	0	0	0.0002	0	0.0003	0.0001552	24	154602	rs199712738	0.0001	0.0001	9.937e-05	0.0001	0.0049	0.0001	0.0001	0.0035	0.0030	8.961e-05	0.0002	0	0	0	0.0049	8.363e-05	0.0004	0.0003	0.0001	0.0001	8.994e-05	0.0001	0.0010	7.086e-05	5.743e-05	0.0004	0.0003	7.22e-05	0	6.535e-05	0	0	0	0	0.0001	0	0.0010	0.172	0.23450	T	0.556	0.09236	T	0.097	0.25541	B	0.175	0.35598	B	0.018131	0.27555	N	0.173587	0.936306	0.37151	D	1.7	0.43825	L	0.43	0.56772	T	-0.88	0.23808	N	0.163	0.17553	-0.9657	0.38073	T	0.138	0.45526	T	10	0.028312981	0.00965	T	0.008861	0.23366	T	0.061	0.17616	.	.	0.19168177325	0.18762	0.32170240943251965	0.32083	0.421253415307	0.42638	0.456272006035	0.32801	T	0.010157	0.43794	T	-0.325051	0.06492	T	-0.376729	0.36104	T	0.0312639685649748	0.02188	T	0.854215	0.54045	D	0.21289685	0.43655	0.13007645	0.31264	0.21289685	0.43655	0.13007645	0.31264	-4.064	0.24757	T	.	.	0.070	0.03372	B	.;.	.;.	4.077361	0.60628	24.2	0.99832759558270867	0.91456	0.80639	0.40225	D	AEFDGBCI	0.416910	0.48517	N	-0.00133697401445527	0.41793	2.506364	0.170250811436877	0.48224	3.041325	0.999999995513229	0.74766	0.733237	0.96898	0	0.610034	0.51514	0	0.600757	0.32118	0	0.727631	0.95156	0	.	.	5.28	5.28	0.74118	2.336000	0.43597	7.585000	0.61076	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8419:0.1581	13.381	0.60210	178	0.93097	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1505.53	33	chr15	41568965	.	G	A	1505.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.044;DP=372;ExcessHet=0;FS=0.654;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=0.976;SOR=0.774	GT:AD:DP:GQ:PL	0/1:67,61:128:99:1516,0,1629	6	0	1	0
chr15	41710808	41710808	C	T	exonic	MGA	.	nonsynonymous SNV	MGA:NM_001080541:exon8:c.C2543T:p.A848V,MGA:NM_001164273:exon8:c.C2543T:p.A848V	.	435	1082	5	0	0	5	0.00230521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.00549522568171	.	0.000399361	9.996e-05	0	8.72e-05	0	0	0.0001	0	0.0002	0.0001035	16	154602	rs532680103	7.047e-05	7.114e-05	5.037e-05	9.077e-05	0.0012	5.914e-05	5.523e-05	0.0006	0.0004	0	0.0001	0	0	0	0.0012	6.296e-05	0.0001	0.0002	7.224e-05	7.218e-05	6.425e-05	8.058e-05	0.0004	3.969e-05	3.126e-05	7.29e-05	3.029e-05	4.812e-05	0	6.538e-05	0	0	0	0	8.822e-05	0	0.0004	0.005	0.68238	D	0.008	0.67890	D	.	.	.	.	.	.	0.268931	0.15166	N	0.620771	0.918534	0.27348	N	0.895	0.22405	L	2.27	0.17431	T	-1.73	0.43334	N	0.6	0.61933	-1.0926	0.05112	T	0.045	0.19437	T	10	0.054035038	0.05690	T	0.005495	0.14136	T	0.117	0.32689	0.127	0.03251	0.0675242888579	0.06100	0.22483419881071695	0.22398	0.152770602881	0.17239	0.500603675842	0.38912	T	0.078471	0.35898	T	-0.328757	0.06205	T	-0.435714	0.29290	T	0.118477528655395	0.14281	T	0.928457	0.74113	D	.	.	.	.	.	.	.	.	-2.915	0.09294	T	.	.	0.099	0.17869	B	.;.;.;.;.;.	.;.;.;.;.;.	3.596847	0.50782	23.0	0.99855972686770311	0.93458	0.53917	0.29488	D	AEFDBI	0.117349	0.22992	N	0.228536036434878	0.52587	3.43185	0.300460083752225	0.55568	3.719612	0.93814360741366	0.27330	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.636168	0.56350	0	.	.	6.08	6.08	0.98982	4.461000	0.59851	6.008000	0.52598	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.998000	0.85391	0.1392:0.8608:0.0:0.0	15.389	0.74446	129	0.94817	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2157.45	34	chr15	41710808	.	C	T	2157.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.852;DP=345;ExcessHet=0;FS=1.237;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=-1.511;SOR=0.838	GT:AD:DP:GQ:PL	0/1:78,87:165:99:2168,0,1905	6	0	1	0
chr15	41854203	41854203	G	T	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon57:c.C9621A:p.N3207K	.	401	1117	4	0	0	4	0.00178731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0418606024447	.	0.000199681	0.0013	0	0	0	0	0.0002	0.0024	0.0063	0.0005304	82	154602	rs201431158	0.0004	0.0004	0.0002	0.0005	0.0051	0.0003	0.0003	0.0047	0.0045	0	7.036e-05	0.0005	0	0	0.0010	4.534e-05	0.0004	0.0051	0.0002	0.0002	7.72e-05	0.0003	0.0037	0.0001	0.0001	0.0024	0.0020	0	0	6.54e-05	0.0006	0	0	0.0035	7.357e-05	0.0009	0.0037	0.174	0.22486	T	0.029	0.54541	D	0.978	0.58756	D	0.832	0.59730	P	0.064465	0.21951	N	0.425347	0.999999	0.08975	N	1.445	0.36358	L	0.88	0.46028	T	-2.89	0.60665	D	0.185	0.20129	-1.0346	0.18983	T	0.118	0.41473	T	10	0.009725779	0.00219	T	0.041861	0.60158	D	0.104	0.29647	0.544	0.65731	0.651126778619	0.64822	0.05074115294350491	0.05016	.	.	0.326735109091	0.14440	T	0.010984	0.09859	T	-0.654078	0.00068	T	-0.711773	0.05204	T	0.115002226604665	0.13934	T	0.372463	0.08834	T	0.12245944	0.28777	0.15418378	0.36198	0.12245944	0.28777	0.15418378	0.36197	-5.332	0.40259	T	.	.	0.227	0.45859	B	.	.	0.672636	0.10411	7.134	0.73114132534820442	0.10212	0.41249	0.26615	N	AEFDBCI	0.137333	0.25828	N	-0.474056939460337	0.22933	1.227999	-0.612929028083871	0.19160	1.026818	0.956358514303971	0.28242	0.706548	0.73137	0	0.547309	0.14657	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.0	1.06	0.19341	-0.106000	0.10860	2.129000	0.30768	-0.820000	0.02968	0.715000	0.28771	1.000000	0.68203	0.263000	0.23594	0.3303:0.1521:0.5176:0.0	4.974	0.13479	219	0.91485	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003532	0.000000	0.001359	0.000000	0.000000	0.000000	0.006135	0.007576	0.07143	515.83	32	chr15	41854203	.	G	T	515.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.238;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=0.051;SOR=0.665	GT:AD:DP:GQ:PL	0/1:30,25:55:99:526,0,669	6	0	1	0
chr15	42081094	42081094	G	A	exonic	PLA2G4D	.	nonsynonymous SNV	PLA2G4D:NM_178034:exon12:c.C997T:p.R333W	.	425	1081	16	0	0	16	0.00734619	.	.	.	714431	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.209	.	0.0076	0.00838658	0.0042	0.0168	0.0029	0.0023	0	0.0023	0.0022	0.0074	0.0039909	617	154602	rs56985825	0.0022	0.0022	0.0021	0.0023	0.0174	0.0021	0.0021	0.0162	0.0158	0.0174	0.0032	0.0052	0.0008	7.489e-05	0.0087	0.0013	0.0036	0.0072	0.0064	0.0064	0.0068	0.0060	0.0176	0.0061	0.0060	0.0166	0.0161	0.0176	0	0.0042	0.0072	0.0013	0	0.0034	0.0016	0.0038	0.0064	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000081	0.52346	D	0.000000	0.591351	0.32459	D	3.84	0.95699	H	2.29	0.17113	T	-7.47	0.94958	D	0.783	0.77978	-0.6227	0.63876	T	0.081	0.31972	T	10	0.014102638	0.00297	T	.	.	.	0.209	0.49871	.	.	0.587508425673	0.58425	0.8644801449638239	0.86412	0.356845921118	0.37416	0.534802377224	0.43710	T	0.214321	0.57587	T	-0.364048	0.03906	T	-0.281426	0.46657	T	0.10281324707795	0.12664	T	0.979302	0.92791	D	0.93835455	0.95080	0.92028856	0.96418	0.93835455	0.95080	0.92028856	0.96419	-9.315	0.69701	D	.	.	0.484	0.63830	A	.	.	4.466568	0.69563	25.4	0.99915561092876015	0.98379	0.30734	0.24158	N	AEFBI	0.256910	0.37574	N	0.372173861205592	0.59918	4.17555	0.193405407351584	0.49485	3.151077	0.996128221974892	0.34540	0.495158	0.18159	0	0.610034	0.51514	0	0.535252	0.11790	0	0.530356	0.10902	0	.	.	4.29	2.2	0.26966	0.206000	0.17174	5.491000	0.48748	0.669000	0.69127	0.002000	0.15269	1.000000	0.68203	0.985000	0.61073	0.0:0.0:0.5221:0.4779	12.012	0.52584	84	0.96491	Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.000000	0.010870	0.017544	0.000000	0.000000	0.006098	0.003788	0.07143	1329.83	35	chr15	42081094	.	G	A	1329.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.46;DP=334;ExcessHet=0;FS=1.544;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-0.791;SOR=0.909	GT:AD:DP:GQ:PL	0/1:61,55:116:99:1340,0,1438	6	0	1	0
chr15	42417393	42417393	G	A	exonic	ZNF106	.	nonsynonymous SNV	ZNF106:NM_001381998:exon20:c.C3079T:p.L1027F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.26e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs766932726	6.857e-07	1.368e-06	0	1.378e-06	9.015e-07	0	0	.	.	0	0	0	0	0	0	9.015e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	244.8	29	chr15	42417393	.	G	A	244.8	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.665;DP=287;ExcessHet=3.1439;FS=133.806;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=0.449;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,9:59:32:.:.:141,0,1084:.	4	0	2	1
chr15	42417393	42417393	G	C	exonic	ZNF106	.	nonsynonymous SNV	ZNF106:NM_001381998:exon20:c.C3079G:p.L1027V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.743e-06	0.0001	0	5.513e-06	3.606e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.606e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	244.8	29	chr15	42417393	.	G	C	244.8	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.665;DP=287;ExcessHet=3.1439;FS=133.806;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=0.449;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,4:59:32:.:.:141,32,1119:.	4	0	2	1
chr15	42448172	42448172	G	A	exonic	ZNF106	.	nonsynonymous SNV	ZNF106:NM_001284306:exon2:c.C521T:p.A174V,ZNF106:NM_001381996:exon3:c.C593T:p.A198V,ZNF106:NM_022473:exon3:c.C2966T:p.A989V,ZNF106:NM_001284307:exon4:c.C650T:p.A217V,ZNF106:NM_001366844:exon4:c.C650T:p.A217V,ZNF106:NM_001381995:exon4:c.C650T:p.A217V,ZNF106:NM_001381997:exon4:c.C650T:p.A217V,ZNF106:NM_001381998:exon4:c.C650T:p.A217V,ZNF106:NM_001381993:exon5:c.C2834T:p.A945V,ZNF106:NM_001381994:exon5:c.C851T:p.A284V,ZNF106:NM_001366845:exon6:c.C3035T:p.A1012V,ZNF106:NM_001366846:exon6:c.C3035T:p.A1012V	.	436	1078	8	0	0	8	0.00369686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0361687009606	0.0006	0.000998403	0.0013	0.0014	0.0003	0	0	0.0002	0.0011	0.0073	0.0010737	166	154602	rs140464950	0.0006	0.0006	0.0004	0.0008	0.0066	0.0006	0.0006	0.0061	0.0059	0.0008	0.0003	0.0005	0	0	0.0023	0.0002	0.0007	0.0066	0.0006	0.0006	0.0005	0.0007	0.0039	0.0005	0.0004	0.0026	0.0021	0.0009	0	0.0002	0.0003	0	0	0	0.0003	0.0009	0.0039	0.001	0.78490	D	0.039	0.60337	D	0.033	0.20350	B	0.012	0.16012	B	0.097928	0.20004	N	0.491622	0.862496	0.28334	N	2.135	0.59519	M	-1.8	0.83893	D	-1.23	0.49684	N	0.23	0.25867	-0.4403	0.70720	T	0.389	0.74394	T	10	0.00436154	0.00089	T	0.036169	0.56817	D	0.208	0.49714	.	.	0.683599622026	0.68090	0.108420524867555	0.10771	0.495656575686	0.48101	0.39023900032	0.23704	T	0.012853	0.28748	T	-0.320007	0.06897	T	-0.228299	0.51936	T	0.0350448506429931	0.02815	T	0.721828	0.33531	T	0.047995456	0.08294	0.08561266	0.19779	0.047995456	0.08294	0.08561266	0.19779	-4.292	0.28065	T	.	.	0.126	0.26825	B	.;.;.;.;.	.;.;.;.;.	2.794821	0.36749	20.3	0.9963625727933938	0.76387	0.82875	0.42045	D	AEFBI	0.112596	0.22250	N	-0.38023398412443	0.26174	1.42649	-0.3911594813088	0.25259	1.388036	0.999461460864296	0.39843	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.23	0.981	0.18875	1.674000	0.37160	2.431000	0.32730	-0.135000	0.12811	0.974000	0.34632	0.208000	0.23622	0.796000	0.37562	0.066:0.3399:0.5941:0.0	12.668	0.56219	108	0.95573	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	1872.44	41	chr15	42448172	.	G	A	1872.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.661;DP=334;ExcessHet=0;FS=4.171;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.505;SOR=0.43	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1133	6	0	1	0
chr15	42688467	42688467	C	G	exonic	STARD9	.	nonsynonymous SNV	STARD9:NM_020759:exon23:c.C6889G:p.P2297A	.	436	1079	7	0	0	7	0.00323326	.	.	.	2352171	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.086	0.0538015949452	.	.	0.0005	0	0	0	0	0.0001	0	0.0011	6.47e-05	10	154602	rs757144254	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0010	0.0009	3.165e-05	0	0	0	0	0.0014	0.0001	0.0002	0.0012	8.541e-05	8.537e-05	7.708e-05	9.413e-05	0.0004	4.957e-05	3.962e-05	7.907e-05	5.993e-05	0	0	6.545e-05	0	0	0	0	0.0001	0	0.0004	0.01	0.56456	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.975	0.24501	L	-0.27	0.67367	T	-1.79	0.42191	N	0.087	0.06454	-0.8432	0.52433	T	0.208	0.56717	T	7	0.017328233	0.00369	T	0.053802	0.65612	D	0.086	0.25016	.	.	0.128392430309	0.12331	0.06477959335402166	0.06416	.	.	0.24175670743	0.02950	T	0.014199	0.12131	T	-0.463001	0.00941	T	-0.478378	0.24618	T	0.0404876108298372	0.03778	T	0.472753	0.14054	T	0.03967643	0.05524	0.0451065	0.05996	0.03967643	0.05524	0.0451065	0.05996	-4.497	0.30849	T	.	.	0.132	0.28464	B	.	.	-0.612408	0.01538	0.100	0.98343863493063177	0.40467	0.08556	0.14469	N	ALL	0.034529	0.04293	N	-0.677575427276569	0.16662	0.8508778	-0.785685379194216	0.14846	0.7778395	0.999972606189731	0.50053	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.553451	0.17756	0	.	.	5.94	0.557	0.16448	-1.005000	0.03785	-2.169000	0.04112	-0.313000	0.06017	0.000000	0.06391	0.000000	0.08366	0.225000	0.22599	0.1354:0.5065:0.1314:0.2267	2.164	0.03597	91	0.96221	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	293.44	40	chr15	42688467	.	C	G	293.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.573;DP=371;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=-1.611;SOR=0.385	GT:AD:DP:GQ:PL	0/0:95,0:95:99:0,120,1800	6	0	1	0
chr15	42695249	42695249	C	T	exonic	STARD9	.	stopgain	STARD9:NM_020759:exon25:c.C13072T:p.R4358X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.756e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs745363025	1.228e-05	1.163e-05	1.283e-05	1.171e-05	7.573e-05	7.48e-06	6.11e-06	3.216e-05	2.182e-05	0	2.801e-05	0	0	0	0	9.269e-06	0	7.573e-05	1.315e-05	1.313e-05	1.285e-05	1.345e-05	2.414e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.078	0.05287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.455046	0.92706	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.075379	0.98428	39	0.99241291893150407	0.56565	0.95323	0.64274	D	AEFDBI	0.085684	0.17370	N	0.736645293330003	0.82033	7.663814	0.580042351152704	0.73511	5.982303	0.999976484500668	0.50053	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.77	5.77	0.91077	4.430000	0.59654	3.341000	0.37707	0.599000	0.40250	1.000000	0.71638	0.104000	0.22711	0.677000	0.33454	0.1561:0.8439:0.0:0.0	14.469	0.67080	92	0.96160	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1050.53	33	chr15	42695249	.	C	T	1050.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.465;DP=286;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-1.172;SOR=0.639	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1467	6	0	1	0
chr15	42746112	42746112	G	A	exonic	TTBK2	.	nonsynonymous SNV	TTBK2:NM_173500:exon15:c.C3418T:p.P1140S	Spinocerebellar ataxia 11, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	338892	not_specified|Spinocerebellar_ataxia_type_11|Inborn_genetic_diseases|not_provided	MedGen:CN169374|MONDO:MONDO:0011464,MedGen:C1858351,OMIM:604432,Orphanet:98767|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.114	0.0170398386012	.	.	4.968e-05	0	0	0	0	5.993e-05	0.0022	0	5.17e-05	8	154602	rs576737530	5.951e-05	5.951e-05	5.989e-05	5.913e-05	0.0002	4.882e-05	4.561e-05	0.0001	0.0001	0	0	0	0	0	0	5.665e-05	9.934e-05	0.0002	3.944e-05	3.94e-05	7.71e-05	0	0.0002	1.716e-05	1.13e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0.0002	0.077	0.34095	T	0.186	0.37872	T	0.999	0.77913	D	0.915	0.65091	D	0.000033	0.55875	D	0.125119	0.999972	0.53665	D	1.06	0.26948	L	1.17	0.37910	T	-0.73	0.20576	N	0.459	0.49602	-0.8494	0.52010	T	0.213	0.57334	T	10	0.20656064	0.36921	T	0.01704	0.38572	T	0.114	0.32008	.	.	0.123314135267	0.11883	0.25473046739193933	0.25387	0.871836948179	0.69430	0.77098095417	0.77572	T	0.069667	0.33766	T	-0.243092	0.14956	T	-0.312661	0.43371	T	0.208229258656502	0.20860	T	0.89491	0.63503	D	0.10825877	0.25598	0.12518154	0.30165	0.117083795	0.27606	0.13276969	0.31851	-3.528	0.16826	T	.	.	0.213	0.53245	B	.;.	.;.	4.573951	0.72187	25.8	0.99918372881198525	0.98586	0.96582	0.69863	D	AEFBI	0.692845	0.65237	D	0.718699242245432	0.80859	7.388457	0.709350378646159	0.83091	7.930994	0.999999624283061	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.13	5.13	0.69729	6.657000	0.74250	9.975000	0.82886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.781	0.91895	84	0.96491	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	758.44	33	chr15	42746112	.	G	A	758.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.543;DP=269;ExcessHet=0;FS=0.839;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.14;ReadPosRankSum=1.19;SOR=0.776	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1147	6	0	1	0
chr15	43021291	43021291	A	G	exonic	UBR1	.	nonsynonymous SNV	UBR1:NM_174916:exon27:c.T2924C:p.I975T	Johanson-Blizzard syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.0568671016026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1287101894	1.386e-06	1.508e-05	0	2.783e-06	2.329e-05	2.3e-07	9e-08	3.87e-06	1.45e-06	0	0	0	0	0	0	0	0	2.329e-05	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.003	0.76473	D	0.877	0.48223	P	0.335	0.42239	B	0.000088	0.51296	D	0.168957	0.999825	0.81001	D	1.87	0.49600	L	0.39	0.57419	T	-3.24	0.65171	D	0.897	0.90251	-0.5780	0.65696	T	0.227	0.59208	T	10	0.901292	0.89490	D	0.056867	0.66759	D	0.352	0.67326	0.75	0.88071	0.700849342337	0.69825	0.45486979996443216	0.45404	0.331662542844	0.35236	0.694372951984	0.66333	T	0.758848	0.93451	D	0.0949073	0.63738	D	-0.00459463	0.70038	D	0.908208012580872	0.56272	D	0.962104	0.85685	D	0.3664358	0.58321	0.44078487	0.67385	0.3664358	0.58321	0.44078487	0.67385	-7.526	0.57793	D	0.803226725685942	0.87956	0.531	0.66670	A	.;.	.;.	3.868307	0.56145	23.7	0.99495853286271851	0.67744	0.99753	0.99211	D	AEFBI	0.836665	0.75439	D	0.56937207432988	0.71269	5.625336	0.579739048421578	0.73488	5.978799	0.999853971234939	0.44174	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	8.293000	0.89858	11.232000	0.90136	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.856	0.69969	15	0.98792	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	106.38	33	chr15	43021291	.	A	G	106.38	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-3.577;DP=489;ExcessHet=0.3476;FS=128.767;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.71;ReadPosRankSum=-0.269;SOR=9.065	GT:AD:DP:GQ:PL	0/0:93,20:113:54:0,54,1767	5	0	2	0
chr15	43160731	43160731	G	C	exonic	TMEM62	.	nonsynonymous SNV	TMEM62:NM_001347019:exon7:c.G618C:p.E206D,TMEM62:NM_001347021:exon7:c.G618C:p.E206D,TMEM62:NM_001347023:exon7:c.G618C:p.E206D,TMEM62:NM_001347025:exon7:c.G618C:p.E206D,TMEM62:NM_001347027:exon7:c.G618C:p.E206D,TMEM62:NM_001347029:exon7:c.G618C:p.E206D,TMEM62:NM_001347030:exon7:c.G576C:p.E192D,TMEM62:NM_001347008:exon8:c.G837C:p.E279D,TMEM62:NM_001347011:exon8:c.G837C:p.E279D,TMEM62:NM_001347012:exon8:c.G837C:p.E279D,TMEM62:NM_001347017:exon8:c.G837C:p.E279D,TMEM62:NM_001347020:exon8:c.G618C:p.E206D,TMEM62:NM_001347024:exon8:c.G618C:p.E206D,TMEM62:NM_001347026:exon8:c.G618C:p.E206D,TMEM62:NM_001347028:exon8:c.G618C:p.E206D,TMEM62:NM_001347031:exon8:c.G966C:p.E322D,TMEM62:NM_001347033:exon8:c.G966C:p.E322D,TMEM62:NM_001347034:exon8:c.G609C:p.E203D,TMEM62:NM_001347005:exon9:c.G843C:p.E281D,TMEM62:NM_001347007:exon9:c.G843C:p.E281D,TMEM62:NM_001347009:exon9:c.G837C:p.E279D,TMEM62:NM_001347010:exon9:c.G837C:p.E279D,TMEM62:NM_001347013:exon9:c.G837C:p.E279D,TMEM62:NM_001347014:exon9:c.G843C:p.E281D,TMEM62:NM_001347016:exon9:c.G843C:p.E281D,TMEM62:NM_001347018:exon9:c.G837C:p.E279D,TMEM62:NM_001347004:exon10:c.G843C:p.E281D,TMEM62:NM_001347006:exon10:c.G843C:p.E281D,TMEM62:NM_001347015:exon10:c.G843C:p.E281D,TMEM62:NM_001347032:exon10:c.G1233C:p.E411D,TMEM62:NM_024956:exon10:c.G1233C:p.E411D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.0025627574351	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1468500571	1.369e-06	1.368e-06	1.362e-06	1.376e-06	8.998e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.998e-07	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	0.02811	T	1.0	0.01155	T	0.012	0.16265	B	0.005	0.11217	B	0.000010	0.62929	D	0.147216	0.520116	0.31576	N	1.575	0.39704	L	.	.	.	1.91	0.00451	N	0.123	0.11483	-1.0524	0.13736	T	0.031	0.13330	T	9	0.09335083	0.16513	T	0.002563	0.05150	T	0.073	0.21317	0.727	0.86111	0.277730125212	0.27379	0.37422231181351223	0.37336	0.18710114538	0.21023	0.399797260761	0.25040	T	0.023449	0.17897	T	-0.204464	0.20163	T	-0.531475	0.19139	T	0.0632710531353951	0.07673	T	0.622038	0.23930	T	0.042298853	0.06391	0.055361826	0.09697	0.042298853	0.06391	0.055361826	0.09697	-4.362	0.29037	T	.	.	0.100	0.16973	B	.	.	1.656808	0.21132	15.07	0.71685015015925724	0.09713	0.76181	0.37344	D	AEFBI	0.127985	0.24558	N	-0.6436237009584	0.17646	0.9097947	-0.423184879346946	0.24318	1.331027	0.691041926450423	0.22589	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.67	2.37	0.28337	0.802000	0.26730	1.651000	0.27846	0.671000	0.69459	0.982000	0.35529	1.000000	0.68203	0.998000	0.85391	0.3874:0.0:0.4078:0.2048	2.720	0.04876	18	0.98631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	231.27	34	chr15	43160731	.	G	C	231.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.81;DP=199;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.518;SOR=0.693	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	5	0	1	1
chr15	43206561	43206561	C	T	exonic	EPB42	.	nonsynonymous SNV	EPB42:NM_000119:exon10:c.G1477A:p.G493S,EPB42:NM_001114134:exon10:c.G1387A:p.G463S	Spherocytosis, type 5	0	1502	20	0	0	20	0.00661376	.	.	.	797135	Inborn_genetic_diseases|not_provided|Hereditary_spherocytosis_type_5|EPB42-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0012985,MedGen:C2675192,OMIM:612690,Orphanet:822|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.121	0.0257109032744	0.0005	0.000199681	0.0008	0	0.0007	0	0	0.0010	0.0022	0.0008	0.0007503	116	154602	rs148871144	0.0006	0.0006	0.0005	0.0006	0.0111	0.0006	0.0005	0.0089	0.0081	0.0002	0.0011	0.0025	2.519e-05	7.488e-05	0.0111	0.0005	0.0008	0.0008	0.0006	0.0006	0.0006	0.0005	0.0009	0.0005	0.0004	0.0007	0.0006	4.815e-05	0	0.0004	0.0026	0	0	0.0170	0.0009	0.0005	0.0004	0.293	0.14843	T	0.213	0.26467	T	0.065	0.25584	B	0.011	0.19048	B	0.990152	0.08036	N	0.995724	1	0.08975	N	0.27	0.09956	N	-1.2	0.78537	T	-0.85	0.23156	N	0.101	0.13769	-0.9505	0.40885	T	0.193	0.54579	T	10	0.0067667365	0.00154	T	0.025711	0.48665	D	0.121	0.33580	.	.	0.624960652763	0.62190	0.5285222911597147	0.52776	.	.	0.232114210725	0.02128	T	0.048349	0.27991	T	-0.416961	0.01789	T	-0.422153	0.30827	T	0.0013316192153126	0.00013	T	0.650635	0.26150	T	0.031930875	0.03125	0.034831215	0.02622	0.033536308	0.03591	0.03930634	0.03994	-2.651	0.06901	T	.	.	0.073	0.08417	B	.;.;.;.;.	.;.;.;.;.	-0.375423	0.02306	0.244	0.87960282565715497	0.17611	0.00842	0.03373	N	AEFDGBI	0.073020	0.14591	N	-1.15052622456171	0.05771	0.2639676	-1.15399385048992	0.06696	0.3232007	0.98899341291255	0.31691	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.14	0.118	0.13972	-0.419000	0.07136	0.074000	0.14299	-0.807000	0.03101	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.4874:0.165:0.3476	4.332	0.10507	17	0.98681	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009063	0.015152	0.014946	0.002924	0.000000	0.017241	0.000000	0.003788	0.07143	1413.44	34	chr15	43206561	.	C	T	1413.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.376;DP=315;ExcessHet=0;FS=4.608;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=1.75;SOR=0.388	GT:AD:DP:GQ:PL	0/1:64,60:124:99:1424,0,1462	6	0	1	0
chr15	43240864	43240864	T	A	exonic	TGM5	.	nonsynonymous SNV	TGM5:NM_004245:exon6:c.A743T:p.K248M,TGM5:NM_201631:exon7:c.A989T:p.K330M	Peeling skin syndrome 2, Autosomal recessive	0	1507	14	1	0	16	0.00528053	.	.	.	338967	Acral_peeling_skin_syndrome|not_provided	MONDO:MONDO:0012345,MedGen:C1853354,OMIM:609796,Orphanet:263534|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.538	0.199842821306	7.7e-05	0.000399361	0.0005	0	0	0	0	0.0001	0.0033	0.0031	0.0004075	63	154602	rs201805126	0.0002	0.0002	0.0001	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	5.975e-05	2.236e-05	0	0	0	0.0012	6.745e-05	0.0004	0.0026	0.0001	0.0001	7.709e-05	0.0001	0.0019	6.507e-05	5.319e-05	0.0010	0.0007	0	0	0	0	0	0	0	0.0001	0	0.0019	0.008	0.58626	D	0.039	0.51112	D	0.909	0.73220	P	0.866	0.68059	P	0.000868	0.41335	D	0.231893	0.718985	0.29941	N	2.485	0.72352	M	-2.43	0.88689	D	-2.73	0.58085	D	0.497	0.53972	0.318	0.87846	D	0.707	0.89911	D	10	0.017929494	0.00386	T	0.199843	0.86675	D	0.538	0.80664	.	.	0.768130985018	0.76600	0.5314309952880202	0.53068	0.73787972437	0.63083	0.432078063488	0.29492	T	0.22466	0.86781	T	-0.261657	0.12708	T	-0.152306	0.59038	T	0.147743650922521	0.16922	T	0.546745	0.20563	T	0.27050513	0.50123	0.265938	0.52432	0.31301102	0.54045	0.29437104	0.55466	-7.389	0.56827	T	0.5039485173676317	0.57873	0.180	0.39613	B	.;.;.;.;.	.;.;.;.;.	3.659112	0.51976	23.2	0.99557655168147041	0.71583	0.78772	0.38915	D	AEFBI	0.460775	0.51081	N	0.174394596270673	0.49972	3.191869	0.109576006589017	0.45037	2.774107	0.999993037261078	0.74766	0.559995	0.30671	0	0.624146	0.53433	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.39	4.27	0.50009	0.211000	0.17268	4.364000	0.43127	0.601000	0.45875	0.114000	0.23067	1.000000	0.68203	0.982000	0.59238	0.0:0.0867:0.0:0.9133	9.226	0.36569	15	0.98792	Transglutaminase-like|Transglutaminase-like;Transglutaminase-like|Transglutaminase-like;Transglutaminase-like|Transglutaminase-like;Transglutaminase-like|Transglutaminase-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.001359	0.002924	0.050000	0.000000	0.000000	0.011364	0.07143	846.46	98	chr15	43240864	.	T	A	846.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.489;DP=276;ExcessHet=0;FS=2.648;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=1.22;SOR=0.469	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1174	6	0	1	0
chr15	43361609	43361609	C	T	exonic	ZSCAN29	.	nonsynonymous SNV	ZSCAN29:NM_152455:exon5:c.G2023A:p.E675K,ZSCAN29:NM_001372080:exon6:c.G2023A:p.E675K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.00737647846586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.004	0.74150	D	0.864	0.47514	P	0.89	0.63157	P	0.000044	0.53742	D	0.000000	0.997812	0.81001	D	1.005	0.25186	L	1.86	0.24285	T	-2.69	0.62151	D	0.472	0.66443	-0.9823	0.34468	T	0.130	0.43948	T	10	0.47418347	0.60044	T	0.007376	0.19576	T	0.178	0.44724	0.563	0.68364	0.579957930997	0.57666	0.17034625035250406	0.16954	0.512096811149	0.49265	0.627189159393	0.56746	T	0.196954	0.55348	T	0.0485449	0.58156	T	-0.168045	0.57621	T	0.938745260238647	0.60962	D	0.648535	0.25952	T	0.33884132	0.56187	0.3291035	0.58793	0.33884132	0.56187	0.3291035	0.58792	-4.847	0.35134	T	.	.	0.203	0.42749	B	.;.	.;.	4.236664	0.64195	24.7	0.99917740343350503	0.98518	0.14651	0.18515	N	AEFDGBHCI	0.601473	0.59370	D	0.58908274078088	0.72493	5.814383	0.583773194073677	0.73776	6.026228	0.999999997948925	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.57	4.57	0.55860	5.949000	0.69973	5.682000	0.49299	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	15.243	0.73177	15	0.98792	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	68.44	33	chr15	43361609	.	C	T	68.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.15;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.11;ReadPosRankSum=1.15;SOR=0.916	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1098	6	0	1	0
chr15	43366160	43366160	G	A	exonic	ZSCAN29	.	nonsynonymous SNV	ZSCAN29:NM_152455:exon3:c.C1172T:p.T391I,ZSCAN29:NM_001372080:exon4:c.C1172T:p.T391I	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00243507479702	.	.	1.651e-05	0	0	0	0	1.502e-05	0	6.086e-05	1.29e-05	2	154602	rs758479000	1.642e-05	1.642e-05	1.225e-05	2.063e-05	0.0007	1.111e-05	9.33e-06	0.0002	0.0001	0	0	0	0	0	0.0007	1.079e-05	6.623e-05	4.637e-05	1.315e-05	1.314e-05	1.286e-05	1.347e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.688	0.09291	T	0.254	0.23914	T	0.001	0.07471	B	0.002	0.08700	B	0.983177	0.07854	N	1.007950	1	0.08975	N	0.905	0.23240	L	3.23	0.06931	T	-1.88	0.50012	N	0.069	0.14054	-0.9193	0.45648	T	0.015	0.05994	T	10	0.049051702	0.04439	T	0.002435	0.04785	T	0.027	0.05988	0.26	0.20315	0.163833314356	0.15978	0.24559119643105465	0.24473	0.100634872147	0.11374	0.367300063372	0.20443	T	0.012494	0.17785	T	-0.422532	0.01648	T	-0.663187	0.08052	T	0.0163669290654346	0.00405	T	0.49705	0.15447	T	0.021439431	0.00746	0.024470262	0.00467	0.021439431	0.00746	0.024470262	0.00467	-4.896	0.35690	T	.	.	0.084	0.11797	B	.;.;.;.	.;.;.;.	-0.425698	0.02119	0.201	0.48887067733504863	0.04117	0.07251	0.13275	N	AEFDBI	0.051689	0.09157	N	-1.18784485644047	0.05183	0.235684	-1.17869466865514	0.06267	0.3011182	0.999944001074726	0.47345	0.732398	0.92422	0	0.552637	0.17590	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.81	1.95	0.25130	-0.228000	0.09119	0.083000	0.14415	-0.127000	0.13314	0.000000	0.06391	0.000000	0.08366	0.103000	0.18424	0.2653:0.1597:0.5749:0.0	4.625	0.11860	15	0.98792	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	634.63	56	chr15	43366160	.	G	A	634.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.728;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=0.074;SOR=0.727	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1106	6	0	1	0
chr15	43421079	43421079	G	A	exonic	TP53BP1	.	nonsynonymous SNV	TP53BP1:NM_001141979:exon20:c.C4196T:p.T1399M,TP53BP1:NM_001141980:exon20:c.C4196T:p.T1399M,TP53BP1:NM_005657:exon20:c.C4181T:p.T1394M,TP53BP1:NM_001355001:exon21:c.C1316T:p.T439M	.	422	1092	8	0	0	8	0.00364964	.	.	.	758712	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.162	0.013232764584	7.7e-05	0.000399361	0.0007	0	0	0	0	9.002e-05	0.0033	0.0045	0.0005563	86	154602	rs200691218	0.0003	0.0003	0.0002	0.0005	0.0040	0.0003	0.0003	0.0036	0.0035	5.974e-05	2.236e-05	3.826e-05	2.519e-05	0	0.0012	7.644e-05	0.0003	0.0040	0.0001	0.0001	6.422e-05	0.0002	0.0025	8.657e-05	7.25e-05	0.0014	0.0011	0	0	0	0	0	0	0.0034	0.0001	0	0.0025	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	0.987	0.77487	D	0.000062	0.52346	D	0.121047	0.986631	0.81001	D	2.045	0.56016	M	3.36	0.05918	T	-2.55	0.55181	D	0.346	0.42931	-1.1394	0.01380	T	0.042	0.18076	T	10	0.009740233	0.00219	T	0.013233	0.32470	T	0.162	0.41843	.	.	0.263709349026	0.25991	0.3476731069296314	0.34681	1.74205220635	0.90873	0.778426110744	0.78691	T	0.664096	0.89954	D	-0.437985	0.01329	T	-0.401919	0.33161	T	0.193006172776222	0.20020	T	0.931307	0.74459	D	0.33120018	0.55569	0.31619275	0.57601	0.33120018	0.55569	0.31619275	0.57600	-8.847	0.66707	D	.	.	0.421	0.60725	A	.;.;.	.;.;.	4.725613	0.76062	26.4	0.99889203722948816	0.96359	0.97069	0.72509	D	AEFDBI	0.546325	0.56047	D	0.637568227512038	0.75566	6.32876	0.666946965360565	0.79878	7.176436	0.999998909707621	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.41	5.41	0.78313	5.535000	0.66885	11.901000	0.99356	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.581	0.95460	18	0.98631	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.000000	0.050000	0.000000	0.000000	0.007576	0.07143	724.63	74	chr15	43421079	.	G	A	724.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.296;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=1.37;SOR=0.726	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1257	6	0	1	0
chr15	43522483	43522483	G	A	exonic	MAP1A	.	nonsynonymous SNV	MAP1A:NM_002373:exon4:c.G1010A:p.R337Q	.	.	.	.	.	.	.	.	.	.	.	2398874	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.097	0.008641006815	.	.	5.967e-05	0	0	0	0	4.619e-05	0	0.0002	5.82e-05	9	154602	rs776191838	5.336e-05	5.336e-05	5.853e-05	4.813e-05	0.0003	4.344e-05	4.017e-05	0.0002	0.0001	0	0	0	0	0	0	4.586e-05	8.279e-05	0.0003	4.599e-05	4.593e-05	6.428e-05	2.688e-05	0.0002	2.109e-05	1.527e-05	2.847e-05	1.859e-05	0	0	6.542e-05	0	0	0	0	7.352e-05	0	0.0002	0.004	0.68238	D	0.025	0.56192	D	0.904	0.49848	P	0.23	0.38212	B	0.007902	0.31126	N	0.000000	0.995106	0.42546	D	1.7	0.43825	L	1.5	0.31205	T	-1.38	0.34992	N	0.417	0.45709	-0.9897	0.32677	T	0.076	0.30522	T	10	0.14679942	0.27826	T	0.008641	0.22829	T	0.097	0.27909	.	.	0.267718591433	0.26370	0.24151521810853574	0.24065	0.803644422357	0.66363	0.537724733353	0.44124	T	0.07111	0.34128	T	-0.321243	0.06797	T	-0.403027	0.33033	T	0.167923429949637	0.18438	T	0.931507	0.74787	D	0.14420074	0.33110	0.16181262	0.37619	0.14420074	0.33109	0.16181262	0.37618	-4.622	0.32447	T	.	.	0.137	0.29941	B	.;.	.;.	5.015162	0.83309	28.0	0.99805349215294004	0.88995	0.85616	0.44767	D	AEFBI	0.368996	0.45589	N	0.45996941158774	0.64769	4.739281	0.495641828838201	0.67699	5.119329	0.99999987166137	0.74766	0.625279	0.40028	0	0.563428	0.19063	0	0.577349	0.28860	0	0.59522	0.37078	0	.	.	5.07	5.07	0.68106	5.478000	0.66531	10.022000	0.83139	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1251:0.0:0.8749:0.0	9.583	0.38662	19	0.98577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	461.49	33	chr15	43522483	.	G	A	461.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.98;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=0.072;SOR=0.752	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1211	6	0	1	0
chr15	43600906	43600906	C	G	exonic	STRC	.	nonsynonymous SNV	STRC:NM_153700:exon25:c.G4810C:p.E1604Q	Deafness, autosomal recessive 16, Autosomal recessive	8	1496	16	2	0	20	0.00664011	.	.	.	2367230	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.206	0.173338599262	7.7e-05	.	0.0002	0.0001	0.0002	0	0	0.0002	0.0011	0.0007	0.0001876	29	154602	rs193034976	0.0002	0.0002	0.0001	0.0002	0.0047	0.0001	0.0001	0.0033	0.0028	0.0001	0.0003	0	5.039e-05	0	0.0047	7.645e-05	0.0005	0.0009	8.61e-05	8.542e-05	7.759e-05	9.504e-05	0.0004	4.995e-05	3.992e-05	8.923e-05	5.417e-05	4.893e-05	0	0.0003	0	0	0	0	7.374e-05	0	0.0004	0.067	0.35918	T	0.057	0.46406	T	0.844	0.62325	P	0.528	0.59919	P	0.106447	0.19614	N	0.475055	1	0.81001	D	.	.	.	-1.17	0.78199	T	-0.83	0.22944	N	0.387	0.45047	-0.4511	0.70364	T	0.397	0.74951	T	10	0.23735124	0.40835	T	0.173339	0.85006	D	0.206	0.49396	.	.	0.795319321131	0.79341	0.19506635889689938	0.19424	.	.	0.584268093109	0.50686	T	0.05702	0.30451	T	-0.30102	0.08563	T	-0.302578	0.44452	T	0.071591013011756	0.08873	T	0.805819	0.45382	T	0.16722868	0.37107	0.0865275	0.20051	0.16722868	0.37107	0.0865275	0.20051	-4.418	0.29800	T	0.5105695755445007	0.58438	0.131	0.28232	B	.;.	.;.	4.552980	0.71668	25.7	0.9975587966031535	0.84615	0.78800	0.38933	D	AEFGBI	0.624919	0.60831	D	0.227568560519406	0.52539	3.42742	0.27058083464517	0.53828	3.550048	0.0116965623771096	0.12222	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.542086	0.14980	0	.	.	4.37	4.37	0.51830	3.485000	0.52972	5.831000	0.50164	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	14.856	0.69972	10	0.99061	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	1395.46	36	chr15	43600906	.	C	G	1395.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.655;DP=375;ExcessHet=0;FS=1.98;MLEAC=1;MLEAF=0.071;MQ=55.09;MQRankSum=0.058;QD=8.46;ReadPosRankSum=2.32;SOR=0.54	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr15	43611236	43611236	C	T	exonic	STRC	.	nonsynonymous SNV	STRC:NM_153700:exon13:c.G3218A:p.R1073Q	Deafness, autosomal recessive 16, Autosomal recessive	565	951	6	0	0	6	0.00314465	.	.	YES	175974	not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_16|not_provided	MedGen:CN169374|MONDO:MONDO:0011364,MedGen:C1863561,OMIM:603720,Orphanet:90636|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.119	0.0134599484225	.	.	0.0034	0	0	0	0	0.0045	0	0.0041	0.0001164	18	154602	rs727503449	0.0007	0.0006	0.0007	0.0007	0.0070	0.0006	0.0006	0.0046	0.0038	0.0003	0.0012	0.0022	3.052e-05	6.148e-05	0.0070	0.0007	0.0009	0.0004	0.0004	0.0005	0.0005	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0	0	0.0002	0.0029	0	0	0.0155	0.0007	0	0	0.224	0.18691	T	0.088	0.40586	T	0.611	0.39680	P	0.042	0.24114	B	0.642251	0.10588	N	0.789047	0.997331	0.43805	D	.	.	.	-1.06	0.76819	T	0.06	0.06253	N	0.119	0.10911	-0.8642	0.50959	T	0.174	0.51706	T	10	0.008996576	0.00203	T	0.01346	0.32880	T	0.119	0.33137	0.335	0.32329	0.468253365638	0.46452	0.2666016499406895	0.26573	.	.	0.624082803726	0.56306	T	0.034431	0.23318	T	-0.105645	0.35488	T	-0.389528	0.34607	T	0.00592443047746709	0.00065	T	0.863714	0.56064	D	0.067808054	0.14717	0.065592356	0.13315	0.07119101	0.15741	0.064837426	0.13053	-2.968	0.09840	T	0.2474195063170448	0.33505	0.084	0.09820	B	.	.	3.624974	0.51315	23.1	0.99928419439762683	0.99222	0.16937	0.19616	N	AEFI	0.099766	0.20075	N	-0.277549276525548	0.30017	1.669883	-0.183876865470174	0.32128	1.824808	4.46666224071457E-5	0.03989	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.15	3.22	0.36041	1.029000	0.29747	1.462000	0.26688	0.596000	0.33519	0.664000	0.28295	0.814000	0.27065	0.989000	0.64315	0.0:0.6781:0.2103:0.1116	5.327	0.15221	8	0.99202	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.010317	0.000000	0.018116	0.011494	0.000000	0.010204	0.000000	0.000000	0.08333	61.01	2	chr15	43611236	.	C	T	61.01	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.38;DP=30;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=40;MQRankSum=0;QD=15.25;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:55:70,0,55	5	0	1	1
chr15	43873170	43873170	C	T	splicing	FRMD5	NM_001322949:exon15:c.1531+1G>A;NM_001322951:exon14:c.1426+1G>A	.	.	.	432	1084	5	1	0	7	0.00321839	.	.	.	3511928	FRMD5-related_condition|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.209	.	.	0.00179712	0.0026	0.0011	0.0103	0	0.0006	0.0051	0	0.0014	0.0010414	161	154602	rs146884659	0.0052	0.0050	0.0053	0.0052	0.0137	0.0051	0.0051	0.0112	0.0103	0.0010	0.0037	0.0052	2.798e-05	0.0002	0.0137	0.0060	0.0058	0.0016	0.0037	0.0037	0.0040	0.0033	0.0059	0.0034	0.0033	0.0053	0.0051	0.0008	0.0011	0.0059	0.0063	0	9.422e-05	0.0103	0.0057	0.0038	0.0021	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.9	0.84628	D	0.15	0.05310	N	0.184	0.19995	-0.3928	0.72253	T	0.420	0.76530	T	6	0.005738586	0.00128	T	.	.	.	0.209	0.49871	.	.	0.559559883721	0.55617	.	.	.	.	.	.	.	0.00487	0.04291	T	-0.232951	0.16260	T	-0.104782	0.63024	T	0.0549946020506515	0.06356	T	0.49475	0.15329	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.21201	B	.	.	1.641279	0.20944	14.98	0.97794167433786949	0.36020	0.83078	0.42227	D	AEFBI	0.266803	0.38365	N	0.103035043848051	0.46603	2.898249	0.140065303939173	0.46618	2.904913	0.228803065116187	0.18441	0.651	0.46895	0	0.546412	0.12157	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.04	3.14	0.35196	2.450000	0.44601	2.387000	0.32519	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.184:0.7216:0.0:0.0944	6.162	0.19586	6	0.99319	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	707.63	33	chr15	43873170	.	C	T	707.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.766;DP=242;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=1.37;SOR=0.608	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1109	6	0	1	0
chr15	45104263	45104263	C	T	exonic	DUOX2	.	nonsynonymous SNV	DUOX2:NM_001363711:exon19:c.G2437A:p.E813K,DUOX2:NM_014080:exon19:c.G2437A:p.E813K	Thyroid dyshormonogenesis 6, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	1884640	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.258	0.0334280869505	.	.	4.186e-05	0.0002	0	0	0	1.519e-05	0	0.0001	3.23e-05	5	154602	rs773481995	2.6e-05	2.599e-05	1.906e-05	3.3e-05	0.0003	1.932e-05	1.692e-05	6.092e-05	2.521e-05	8.961e-05	2.236e-05	0.0004	2.519e-05	0	0.0003	1.079e-05	8.279e-05	3.479e-05	1.972e-05	1.97e-05	3.855e-05	0	2.414e-05	5.24e-06	2.45e-06	.	.	2.414e-05	0	0	0.0003	0	0	0	1.47e-05	0	0	0.017	0.51248	D	0.047	0.48855	D	0.152	0.28062	B	0.046	0.24676	B	0.000502	0.43753	D	0.264532	0.913043	0.36463	D	1.755	0.45626	L	-0.11	0.64445	T	-2.84	0.59873	D	0.472	0.53708	-0.8429	0.52453	T	0.114	0.40513	T	9	0.25495747	0.42882	T	0.033428	0.54974	D	0.258	0.56959	0.364	0.37036	0.839667157149	0.83814	0.5427500282099641	0.54201	0.0689220398116	0.07714	0.543329358101	0.44916	T	0.057074	0.69574	T	-0.188432	0.22490	T	-0.271777	0.47639	T	0.157524958252907	0.17686	T	0.940906	0.77861	D	0.24151464	0.47067	0.28112525	0.54092	0.27129057	0.50200	0.3136009	0.57356	-11.05	0.79931	D	0.5645131516782669	0.63205	0.095	0.14979	B	.;.	.;.	3.987606	0.58662	24.0	0.99848817230128761	0.92838	0.93074	0.57261	D	AEFDGBI	0.503924	0.53570	D	0.156775579018936	0.49132	3.117171	0.277997617290687	0.54258	3.591267	0.999980299925604	0.51787	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	5.23	4.29	0.50359	4.790000	0.62146	4.922000	0.46051	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.906000	0.44173	0.0:0.9219:0.0:0.0781	13.826	0.62845	592	0.68746	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2394.49	33	chr15	45104263	.	C	T	2394.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.38;DP=343;ExcessHet=0;FS=1.97;MLEAC=1;MLEAF=0.071;MQ=52.95;MQRankSum=-0.424;QD=14.51;ReadPosRankSum=-2.106;SOR=0.866	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr15	45269512	45269512	G	C	exonic	SLC28A2	.	nonsynonymous SNV	SLC28A2:NM_004212:exon14:c.G1543C:p.E515Q	.	420	1094	8	0	0	8	0.00364299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00623506970177	0.0048	0.00179712	0.0028	0.0011	0.0017	0	0.0006	0.0042	0.0044	0.0013	0.0030918	478	154602	rs116547844	0.0054	0.0054	0.0056	0.0053	0.0066	0.0053	0.0053	0.0064	0.0064	0.0010	0.0023	0.0005	0	0.0005	0.0054	0.0066	0.0052	0.0013	0.0033	0.0033	0.0033	0.0033	0.0056	0.0030	0.0030	0.0051	0.0050	0.0011	0.0011	0.0029	0.0003	0	0.0006	0.0034	0.0056	0.0043	0.0025	0.179	0.22053	T	0.326	0.18789	T	0.336	0.33356	B	0.288	0.40614	B	0.664628	0.06000	N	1.144910	1	0.08975	N	2.16	0.60381	M	4.68	0.01715	T	-0.65	0.18877	N	0.082	0.05799	-0.8752	0.50135	T	0.007	0.02360	T	10	0.005625099	0.00125	T	0.006235	0.16347	T	0.070	0.20419	.	.	0.301789629655	0.29801	0.3037076334469012	0.30283	0.0417311112919	0.04484	0.209123313427	0.00774	T	0.008991	0.08212	T	-0.656498	0.00066	T	-0.710099	0.05290	T	0.00859307723044336	0.00105	T	0.860614	0.55382	D	0.062903844	0.13187	0.049496625	0.07575	0.062903844	0.13186	0.049496625	0.07574	-4.326	0.28540	T	.	.	0.072	0.04080	B	.	.	2.089018	0.26572	17.16	0.96800585995370847	0.31146	0.55948	0.29992	D	AEFI	0.201347	0.32802	N	-0.40896087354712	0.25155	1.363403	-0.415527722097581	0.24542	1.344454	0.161663059110697	0.17602	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	6.07	3.15	0.35301	2.148000	0.41859	0.257000	0.16498	0.672000	0.70159	0.034000	0.20669	0.000000	0.08366	0.966000	0.53164	0.24:0.0:0.76:0.0	9.412	0.37663	607	0.67291	Concentrative nucleoside transporter C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.002717	0.002924	0.000000	0.008621	0.003067	0.000000	0.07143	432.63	33	chr15	45269512	.	G	C	432.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.346;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=-0.683;SOR=0.859	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr15	48510149	48510149	T	C	exonic	FBN1	.	nonsynonymous SNV	FBN1:NM_000138:exon14:c.A1609G:p.N537D	Acromicric dysplasia, Autosomal dominant;Ectopia lentis, familial, Autosomal dominant;Geleophysic dysplasia 2, Autosomal dominant;MASS syndrome;Marfan lipodystrophy syndrome, Autosomal dominant;Marfan syndrome, Autosomal dominant;Stiff skin syndrome, Autosomal dominant;Weill-Marchesani syndrome 2, dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.627	0.3429950661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	1.368e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.033	0.53072	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	-2.25	0.87272	D	-3.93	0.73267	D	0.909	0.91047	0.342	0.88208	D	0.655	0.87981	D	10	0.8570492	0.84906	D	0.342995	0.92065	D	0.627	0.85615	0.477	0.55502	0.760418965116	0.75824	.	.	2.25126918613	0.96108	0.790217995644	0.80476	T	.	.	.	0.0817286	0.62242	D	-0.120379	0.61771	T	0.985824942588806	0.76706	D	0.553945	0.19167	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.512	0.65136	A	.	.	4.568343	0.72054	25.8	0.99704985483028785	0.80936	0.98462	0.83029	D	AEFGBI	0.954160	0.97105	D	0.604960175191823	0.73488	5.974262	0.64047531691257	0.77905	6.769892	0.999999999990481	0.74766	0.732398	0.92422	0	0.670034	0.63936	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	5.5	5.5	0.81386	8.017000	0.88732	7.911000	0.74030	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	14.719	0.68904	513	0.74941	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	626.83	34	chr15	48510149	.	T	C	626.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.531;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=-1.151;SOR=0.598	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1146	6	0	1	0
chr15	50632919	50632919	C	T	exonic	TRPM7	.	nonsynonymous SNV	TRPM7:NM_001301212:exon9:c.G1081A:p.A361T,TRPM7:NM_017672:exon9:c.G1081A:p.A361T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.014782368737	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450943095	1.381e-06	2.052e-06	0	2.775e-06	1.188e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.034e-07	0	1.188e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.039	0.51112	D	0.981	0.59675	D	0.704	0.54300	P	0.000001	0.62929	D	0.056150	1	0.81001	D	1.575	0.39704	L	1.71	0.26737	T	-1.86	0.43524	N	0.692	0.73826	-0.9796	0.35094	T	0.124	0.42736	T	10	0.53174496	0.63223	D	0.014782	0.35118	T	0.220	0.51569	0.467	0.53891	0.445614145163	0.44183	0.6056999606120872	0.60500	0.385891351295	0.39878	0.661958098412	0.61689	T	0.554541	0.84977	D	0.0387526	0.56881	T	-0.182111	0.56327	T	0.876106917858124	0.52598	D	0.89801	0.64352	D	0.26852235	0.49924	0.24354072	0.49799	0.26852235	0.49924	0.24354072	0.49798	-6.81	0.52633	T	.	.	0.504	0.64750	A	.;.;.	.;.;.	4.799410	0.77971	26.8	0.99837411731673387	0.91800	0.98521	0.83668	D	AEFBI	0.730147	0.67763	D	0.680384661679726	0.78347	6.853252	0.687355424195683	0.81417	7.522028	0.999999999999993	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.65145	0.50148	0	0.635259	0.50027	0	.	.	5.29	5.29	0.74430	3.949000	0.56377	4.879000	0.45646	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.126	0.93369	564	0.70960	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	30.27	26	chr15	50632919	.	C	T	30.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.197;DP=258;ExcessHet=0;FS=196.762;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.84;ReadPosRankSum=0.982;SOR=7.275	GT:AD:DP:GQ:PL	0/0:22,0:22:23:0,23,487	5	0	1	1
chr15	50925167	50925167	G	A	exonic	AP4E1	.	nonsynonymous SNV	AP4E1:NM_001252127:exon5:c.G265A:p.E89K,AP4E1:NM_007347:exon5:c.G490A:p.E164K	Spastic paraplegia 51, autosomal recessive, Autosomal recessive;Stuttering, familial persistent, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1944525	Spastic_paraplegia	Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.357	0.0280749157658	.	.	8.264e-06	0	0	0	0	1.503e-05	0	0	1.29e-05	2	154602	rs556357549	4.79e-06	4.788e-06	4.085e-06	5.502e-06	1.16e-05	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.397e-06	0	1.16e-05	1.97e-05	1.968e-05	0	4.029e-05	6.539e-05	5.24e-06	2.45e-06	.	.	2.406e-05	0	6.539e-05	0	0	0	0	1.47e-05	0	0	0.004	0.65419	D	0.016	0.60972	D	1.0	0.90584	D	0.982	0.75477	D	0.000000	0.84330	D	0.052250	1	0.81001	D	2.455	0.71248	M	2.31	0.16794	T	-3.8	0.71762	D	0.485	0.51940	-0.9353	0.43349	T	0.135	0.44971	T	10	0.40395916	0.55762	T	0.028075	0.50806	D	0.357	0.67782	0.542	0.65446	0.369524611565	0.36568	0.29057527201993233	0.28970	0.548098038175	0.51770	0.739223480225	0.72858	T	0.290083	0.66286	T	-0.113933	0.34120	T	-0.304579	0.44240	T	0.974646866321564	0.70595	D	0.964104	0.86689	D	0.9145642	0.92724	0.8099173	0.88895	0.9145642	0.92725	0.8099173	0.88895	-9.551	0.74187	D	.	.	0.753	0.75196	P	.;.	.;.	5.250335	0.88146	29.5	0.99932381095955025	0.99439	0.98648	0.85116	D	AEFDBI	0.880757	0.80762	D	0.797101372753598	0.85924	8.723904	0.781996282867424	0.88515	9.610971	0.999999999999914	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.53	5.53	0.82530	9.602000	0.97623	11.747000	0.95320	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.794000	0.37478	0.0:0.0:1.0:0.0	18.441	0.90614	206	0.91974	Clathrin/coatomer adaptor, adaptin-like, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	753.53	72	chr15	50925167	.	G	A	753.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.193;DP=262;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=0.378;SOR=0.701	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	6	0	1	0
chr15	50958567	50958567	A	G	exonic	AP4E1	.	nonsynonymous SNV	AP4E1:NM_001252127:exon14:c.A1399G:p.M467V,AP4E1:NM_007347:exon14:c.A1624G:p.M542V	Spastic paraplegia 51, autosomal recessive, Autosomal recessive;Stuttering, familial persistent, 1, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	688458	not_provided|Spastic_paraplegia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.051	0.00279038725834	.	0.000199681	0.0003	0	0	0	0	0	0	0.0021	0.0002458	38	154602	rs542940704	0.0001	0.0001	9.257e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	0	0	0	0	0	0.0003	4.227e-05	0.0002	0.0018	6.563e-05	6.562e-05	1.285e-05	0.0001	0.0019	3.513e-05	2.613e-05	0.0010	0.0007	0	0	0	0	0	0	0	1.47e-05	0	0.0019	0.283	0.15354	T	0.293	0.20811	T	0.0	0.02946	B	0.002	0.06944	B	0.000493	0.43931	D	0.281346	0.999882	0.19853	N	-0.55	0.02420	N	1.96	0.22270	T	0.01	0.06868	N	0.11	0.13198	-1.0077	0.27634	T	0.022	0.09559	T	10	0.010067135	0.00225	T	0.00279	0.05810	T	0.051	0.14325	.	.	0.138757226776	0.13463	0.11684258658255613	0.11612	0.105448133668	0.11924	0.317348718643	0.13019	T	0.038179	0.24746	T	-0.560362	0.00252	T	-0.584482	0.14147	T	0.0376115697788814	0.03264	T	0.767123	0.39533	T	0.11116796	0.26273	0.1434094	0.34083	0.11116796	0.26272	0.1434094	0.34082	-3.05	0.11621	T	.	.	0.080	0.07889	B	.;.	.;.	1.454471	0.18762	13.91	0.90201905834016927	0.19476	0.78261	0.38585	D	AEFBI	0.085842	0.17403	N	-0.477684120440996	0.22814	1.220805	-0.280919962227481	0.28726	1.603951	0.943744916615813	0.27583	0.562547	0.31514	0	0.653731	0.59785	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	4.48	3.31	0.37025	1.533000	0.35645	0.424000	0.18252	0.756000	0.94297	1.000000	0.71638	0.025000	0.21018	0.984000	0.60418	0.834:0.166:0.0:0.0	10.310	0.42883	256	0.89942	Clathrin/coatomer adaptor, adaptin-like, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	531.63	33	chr15	50958567	.	A	G	531.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.23;DP=211;ExcessHet=0;FS=1.342;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=0.936;SOR=0.446	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1171	6	0	1	0
chr15	50968263	50968263	G	A	exonic	AP4E1	.	nonsynonymous SNV	AP4E1:NM_001252127:exon15:c.G1627A:p.V543I,AP4E1:NM_007347:exon15:c.G1852A:p.V618I	Spastic paraplegia 51, autosomal recessive, Autosomal recessive;Stuttering, familial persistent, 1, Autosomal dominant	0	1517	5	0	0	5	0.00164528	0.9963	0.82	.	242086	Spastic_paraplegia|not_provided|Hereditary_spastic_paraplegia_51	Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:C3661900|MONDO:MONDO:0013401,MedGen:C3151056,OMIM:613744,Orphanet:280763	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.149	0.0165991037787	0.0003	0.000199681	0.0005	0	0.0004	0.0002	0.0002	0.0006	0	0.0003	0.000304	47	154602	rs142215198	0.0003	0.0003	0.0003	0.0004	0.0004	0.0003	0.0003	0.0004	0.0004	3.009e-05	0.0003	3.834e-05	2.535e-05	1.881e-05	0.0002	0.0004	0.0004	0.0001	0.0003	0.0003	0.0003	0.0004	0.0006	0.0003	0.0002	0.0005	0.0004	7.234e-05	0	0.0002	0	0.0002	0	0	0.0006	0.0014	0	0.162	0.23541	T	0.022	0.57587	D	0.548	0.38076	P	0.232	0.38314	B	0.000006	0.62929	D	0.062472	0.999999	0.58761	D	2.135	0.59519	M	1.92	0.23082	T	-0.45	0.14782	N	0.448	0.48872	-1.0914	0.05303	T	0.069	0.28147	T	9	0.1991618	0.35915	T	0.016599	0.37934	T	0.149	0.39377	.	.	0.368394457434	0.36455	0.20972529457826386	0.20888	0.287247929868	0.31124	0.423228561878	0.28281	T	0.07555	0.35204	T	-0.422686	0.01645	T	-0.499998	0.22347	T	0.0797087868909961	0.09950	T	0.871013	0.57621	D	0.0794681	0.18155	0.07723878	0.17185	0.06665487	0.14361	0.08401861	0.19298	-4.004	0.23864	T	.	.	0.110	0.23255	B	.;.	.;.	4.219653	0.63816	24.6	0.99598782738263925	0.74042	0.97635	0.76055	D	AEFBI	0.843867	0.76086	D	0.313770668790497	0.56855	3.850984	0.380681899120787	0.60373	4.224306	0.999975753900648	0.50053	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.71	4.71	0.59010	8.340000	0.89951	8.591000	0.77687	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:1.0:0.0	16.672	0.85127	260	0.89800	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	774.83	34	chr15	50968263	.	G	A	774.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.884;DP=212;ExcessHet=0;FS=2.778;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.49;ReadPosRankSum=-1.045;SOR=0.374	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1070	6	0	1	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V,DMXL2:NM_001174117:exon22:c.C4582G:p.L1528V,DMXL2:NM_001378464:exon23:c.C6250G:p.L2084V,DMXL2:NM_001174116:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378457:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378458:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378459:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378461:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378462:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378463:exon24:c.C6490G:p.L2164V,DMXL2:NM_015263:exon24:c.C6490G:p.L2164V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.704	0.117777155765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.094e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	-2.06	0.85875	D	-2.88	0.60507	D	0.74	0.79406	0.483	0.90301	D	0.707	0.89914	D	10	0.7455675	0.75263	D	0.117777	0.79764	D	0.704	0.89376	0.462	0.53079	0.79628066686	0.79438	0.5831259576205228	0.58241	0.790969623184	0.65777	0.804797291756	0.82694	D	0.413358	0.76724	T	0.355009	0.86863	D	0.27217	0.86691	D	0.983855545520782	0.75369	D	0.938406	0.78595	D	0.71831286	0.79067	0.66708344	0.80475	0.71831286	0.79069	0.66708344	0.80476	-6.497	0.50739	T	.	.	0.783	0.76515	P	.;.;.	.;.;.	4.493995	0.70227	25.5	0.99814742571298831	0.89797	0.98484	0.83265	D	AEFBI	0.820937	0.74161	D	0.826416697591381	0.87726	9.319382	0.824365288908583	0.91435	10.88461	0.9999938428267	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	6.935000	0.75699	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0725:0.0:0.9275:0.0	13.230	0.59363	505	0.75648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	246.27	30	chr15	51480616	.	G	C	246.27	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-4.117;DP=432;ExcessHet=1.383;FS=628.443;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=1.23;SOR=9.327	GT:AD:DP:GQ:PL	./.:53,0:53:0:0,0,1402	1	0	3	3
chr15	52184621	52184621	T	G	exonic	GNB5	.	nonsynonymous SNV	GNB5:NM_016194:exon2:c.A56C:p.K19T	Intellectual developmental disorder with cardiac arrhythmia, Autosomal recessive;Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0163761316681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.841e-07	1.362e-06	0	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.068	0.44106	T	0.023	0.18885	B	0.021	0.19346	B	0.000976	0.40836	D	0.107923	0.880332	0.28060	N	.	.	.	-0.0	0.62608	T	-0.92	0.24676	N	0.293	0.33140	-0.9121	0.46594	T	0.147	0.47183	T	10	0.18561482	0.33989	T	0.016376	0.37609	T	0.088	0.25558	0.434	0.48500	0.726457867943	0.72403	0.3015955698912636	0.30072	0.47951580378	0.46987	0.699413180351	0.67059	T	0.102892	0.41104	T	-0.0022497	0.51342	T	-0.241008	0.50701	T	0.754004895687103	0.43510	D	0.688231	0.29741	T	0.22631693	0.45310	0.33154708	0.59012	0.22631693	0.45310	0.33154708	0.59011	-4.651	0.32806	T	.	.	0.116	0.23219	B	.	.	3.073956	0.41330	21.3	0.99742668675427903	0.83629	0.94505	0.61382	D	AEFBI	0.571730	0.57560	D	-0.0402543423694457	0.40039	2.371057	0.164786179163553	0.47931	3.016046	0.999995752736676	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.6	5.6	0.84997	4.194000	0.58190	6.061000	0.53172	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.074:0.0:0.926	10.183	0.42153	260	0.89800	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	483.83	31	chr15	52184621	.	T	G	483.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.807;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=3.28;SOR=0.784	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1045	6	0	1	0
chr15	52279569	52279569	C	T	exonic	MYO5C	.	nonsynonymous SNV	MYO5C:NM_018728:exon3:c.G244A:p.A82T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.702	0.348806041533	.	.	2.485e-05	0.0001	0	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs756262731	1.642e-05	1.642e-05	1.361e-05	1.925e-05	2.987e-05	1.111e-05	9.33e-06	1.012e-05	8.35e-06	2.987e-05	0	0	2.519e-05	1.872e-05	0	1.619e-05	3.312e-05	1.159e-05	2.629e-05	2.627e-05	2.57e-05	2.691e-05	7.243e-05	8.14e-06	5.14e-06	1.921e-05	1.032e-05	7.243e-05	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.01	0.54746	M	-2.22	0.87038	D	-3.38	0.66780	D	0.87	0.86725	0.672	0.92827	D	0.792	0.92963	D	10	0.9055155	0.89916	D	0.348806	0.92213	D	0.702	0.89284	0.615	0.74884	0.916932696439	0.91609	0.7208093110260569	0.72023	0.600199696875	0.55114	0.793946504593	0.81043	T	0.522031	0.83303	D	0.152435	0.69495	D	0.162714	0.80972	D	0.822704881893752	0.47974	D	0.941306	0.78096	D	0.7962636	0.83668	0.78296137	0.87210	0.7962636	0.83670	0.78296137	0.87211	-8.937	0.67290	D	.	.	0.759	0.75438	P	.	.	5.007694	0.83134	28.0	0.99936452294405387	0.99621	0.98607	0.84635	D	AEFBI	0.874265	0.79705	D	0.768732910979555	0.84118	8.199539	0.731138583340117	0.84742	8.377754	0.999999999999989	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.89	5.89	0.94758	7.905000	0.86479	7.677000	0.65097	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.831000	0.39176	0.0:1.0:0.0:0.0	20.256	0.98423	376	0.83959	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class V myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	540.63	36	chr15	52279569	.	C	T	540.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.439;DP=222;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-2.595;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1116	6	0	1	0
chr15	52337835	52337835	C	T	exonic	MYO5A	.	nonsynonymous SNV	MYO5A:NM_001382347:exon33:c.G4289A:p.R1430Q,MYO5A:NM_001382348:exon34:c.G4361A:p.R1454Q	Griscelli syndrome, type 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.26898486533	.	.	0.0010	0	0	0	0	0	0	0.0021	0.0001035	16	154602	rs751051982	0.0001	0.0001	4.826e-05	0.0002	0.0015	9.089e-05	8.551e-05	0.0013	0.0012	0	0.0001	0	0	0	0	2.049e-05	8.676e-05	0.0015	8.544e-05	8.533e-05	3.858e-05	0.0001	0.0021	4.958e-05	3.964e-05	0.0011	0.0009	0	0	0	0	0.0002	0	0	2.941e-05	0	0.0021	0.393	0.13175	T	0.304	0.20100	T	0.997	0.70673	D	0.947	0.68407	D	0.000635	0.42799	D	0.000000	0.976231	0.81001	D	.	.	.	-2.05	0.85799	D	-0.43	0.14390	N	0.556	0.58117	0.263	0.86952	D	0.726	0.90622	D	9	0.038466632	0.02267	T	0.268985	0.89804	D	0.299	0.61955	0.342	0.33464	0.598192288347	0.59498	.	.	.	.	.	.	.	0.017285	0.23047	T	-0.206393	0.19890	T	-0.109779	0.62629	T	0.186924518447312	0.19661	T	0.910509	0.68253	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.60973	B	.;.;.	.;.;.	5.488430	0.91455	32	0.99926364857128303	0.99103	0.98845	0.87614	D	AEFGBI	0.832828	0.75114	D	0.609133637019005	0.73751	6.017645	0.638858080299567	0.77784	6.746407	1.0	0.98316	0.75658	0.98901	0	0.724815	0.89359	0	0.527494	0.11647	0	0.656636	0.63459	0	.	.	5.56	5.56	0.83678	6.740000	0.74635	7.716000	0.67067	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.532	0.95226	319	0.87030	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1173.44	33	chr15	52337835	.	C	T	1173.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.041;DP=273;ExcessHet=0;FS=1.65;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.464;SOR=0.888	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1215	6	0	1	0
chr15	52609461	52609461	C	T	exonic	FAM214A	.	nonsynonymous SNV	FAM214A:NM_001286495:exon5:c.G1474A:p.V492I,FAM214A:NM_001385020:exon5:c.G1474A:p.V492I,FAM214A:NM_001385022:exon5:c.G1189A:p.V397I,FAM214A:NM_001385023:exon5:c.G1189A:p.V397I,FAM214A:NM_001385013:exon6:c.G1453A:p.V485I,FAM214A:NM_001385015:exon6:c.G1453A:p.V485I,FAM214A:NM_001385016:exon6:c.G1453A:p.V485I,FAM214A:NM_001385017:exon6:c.G1453A:p.V485I,FAM214A:NM_001385018:exon6:c.G1453A:p.V485I,FAM214A:NM_001385019:exon6:c.G1474A:p.V492I,FAM214A:NM_001385021:exon6:c.G1453A:p.V485I,FAM214A:NM_019600:exon6:c.G1453A:p.V485I,FAM214A:NM_001385014:exon7:c.G1453A:p.V485I	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0146755607889	0.0006	.	0.0007	0	8.639e-05	0	0.0002	0.0011	0	0.0005	0.0005627	87	154602	rs202204044	0.0005	0.0005	0.0005	0.0005	0.0012	0.0005	0.0005	0.0006	0.0004	0	0.0004	0.0046	0	0.0005	0.0012	0.0005	0.0006	0.0002	0.0006	0.0006	0.0006	0.0005	0.0022	0.0005	0.0004	0.0016	0.0014	9.646e-05	0	0.0022	0.0052	0	0.0003	0	0.0003	0.0005	0.0008	0.09	0.32141	T	0.069	0.43913	T	0.023	0.18885	B	0.017	0.18140	B	0.000512	0.43753	N	0.195202	0.999995	0.58761	D	2.02	0.55341	M	0.74	0.50459	T	-0.58	0.17417	N	0.113	0.10483	-1.0633	0.10950	T	0.090	0.34518	T	10	0.0067714453	0.00154	T	0.014676	0.34954	T	0.028	0.06331	.	.	0.110392049598	0.10638	0.44951801792509455	0.44869	0.0828730948051	0.09350	0.326462268829	0.14399	T	0.001902	0.01317	T	-0.409508	0.02003	T	-0.456093	0.27026	T	0.0156266466232175	0.00358	T	0.862114	0.55818	D	0.0783766	0.17846	0.06675277	0.13717	0.0783766	0.17845	0.06675277	0.13717	-1.49	0.01744	T	.	.	0.097	0.18206	B	.;.;.;.	.;.;.;.	3.008006	0.40211	21.1	0.98640185083608722	0.44042	0.88602	0.48606	D	AEFGBHCI	0.311991	0.41756	N	-0.15081375378736	0.35199	2.018837	0.0514344077855999	0.42141	2.543813	0.999985872970271	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.78	4.86	0.62624	3.629000	0.54007	4.031000	0.41338	0.599000	0.40250	0.997000	0.40164	0.999000	0.35428	0.999000	0.91618	0.0:0.9277:0.0:0.0723	13.500	0.60902	334	0.86273	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	684.83	50	chr15	52609461	.	C	T	684.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.05;DP=475;ExcessHet=0;FS=0.852;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.44;ReadPosRankSum=-0.067;SOR=0.879	GT:AD:DP:GQ:PL	0/0:99,0:99:99:0,120,1800	6	0	1	0
chr15	55359627	55359627	C	G	exonic	CCPG1	.	nonsynonymous SNV	CCPG1:NM_001204450:exon8:c.G2146C:p.V716L,CCPG1:NM_004748:exon8:c.G2146C:p.V716L,CCPG1:NM_020739:exon8:c.G2146C:p.V716L,CCPG1:NM_001204451:exon9:c.G997C:p.V333L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00601619530751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.821e-05	0.0007	5.573e-05	4.065e-05	6.087e-05	3.875e-05	3.55e-05	4.372e-05	3.933e-05	6.087e-05	0	3.858e-05	2.531e-05	0	0	5.531e-05	5.06e-05	2.337e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.654	0.32296	T	0.523	0.41074	T	0.458	0.36312	P	0.125	0.32635	B	0.154312	0.17865	N	0.613991	0.97429	0.25500	N	2.215	0.62545	M	3.86	0.30669	T	-0.99	0.26200	N	0.059	0.12627	-1.0586	0.12108	T	0.052	0.22269	T	10	0.053824097	0.05635	T	0.006016	0.15698	T	0.027	0.05988	0.213	0.13210	0.082315109003	0.07666	0.23983706607780256	0.23897	0.243686580979	0.26869	0.30338126421	0.10907	T	0.009022	0.08238	T	-0.188163	0.22529	T	-0.50806	0.21514	T	0.458560168743134	0.31113	T	0.682032	0.33613	T	0.077258244	0.17524	0.06391153	0.12730	0.077258244	0.17524	0.06391153	0.12729	-2.542	0.09967	T	.	.	0.230	0.47283	B	.;.;.;.	.;.;.;.	1.561984	0.20005	14.54	0.97137709401516181	0.32529	0.35420	0.25298	N	AEFBI	0.475035	0.51905	N	-0.296313876962296	0.29291	1.623008	-0.23329789577845	0.30350	1.70816	0.891671508385161	0.25865	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.83	2.92	0.32998	0.593000	0.23700	1.450000	0.26598	0.599000	0.40250	0.000000	0.06391	1.000000	0.68203	0.999000	0.91618	0.0:0.5919:0.0:0.4081	6.457	0.21139	878	0.29785	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	33.68	47	chr15	55359627	.	C	G	33.68	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.118;DP=417;ExcessHet=0;FS=277.51;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.82;ReadPosRankSum=0.642;SOR=8.789	GT:AD:DP:GQ:PL	0/0:64,18:87:53:0,53,1185	6	0	1	0
chr15	55869581	55869581	C	G	exonic	NEDD4	.	nonsynonymous SNV	NEDD4:NM_001284340:exon3:c.G1711C:p.E571Q,NEDD4:NM_001284338:exon4:c.G1762C:p.E588Q,NEDD4:NM_001284339:exon4:c.G1762C:p.E588Q,NEDD4:NM_001329212:exon8:c.G64C:p.E22Q,NEDD4:NM_006154:exon8:c.G505C:p.E169Q	.	445	1052	22	3	0	28	0.0131332	0.9842	0.78	.	739699	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.341	.	0.0008	0.00179712	0.0098	0	0.0012	0.0008	0.0136	0.0044	0.0191	0.0236	0.0029236	452	154602	rs200302839	0.0023	0.0024	0.0017	0.0029	0.0189	0.0022	0.0022	0.0181	0.0178	0	0.0003	0.0008	2.638e-05	0.0086	0.0074	0.0010	0.0025	0.0189	0.0021	0.0021	0.0014	0.0027	0.0170	0.0019	0.0018	0.0140	0.0129	4.812e-05	0	0.0003	0.0012	0	0.0091	0	0.0018	0.0009	0.0170	0.137	0.25979	T	0.663	0.28860	T	0.609	0.90584	P	0.254	0.73362	B	.	.	.	.	0.867592	0.81001	D	2.25	0.63811	M	-2.91	0.91696	D	-2.14	0.48523	N	0.531	0.55972	-0.8322	0.53159	T	0.227	0.59221	T	9	0.008531868	0.00193	T	.	.	.	0.341	0.66297	.	.	0.931635973363	0.93093	0.3377238512636838	0.33685	.	.	.	.	.	0.251468	0.62172	T	-0.181927	0.23450	T	-0.0191658	0.69083	D	0.0473805698945018	0.05033	T	0.919908	0.78720	D	0.1940468	0.41138	0.17848879	0.40521	0.1940468	0.41138	0.17848879	0.40520	-10.473	0.76692	D	.	.	0.403	0.59727	A	.;.;.	.;.;.	4.758105	0.76898	26.6	0.99652454092928966	0.77380	0.98588	0.84418	D	AEFBI	0.897493	0.83972	D	0.464009259402484	0.65002	4.768017	0.538009565599981	0.70567	5.524293	0.999999999999816	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	7.266000	0.77851	7.633000	0.62825	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.432	0.90575	793	0.45818	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005056	0.000000	0.001359	0.002941	0.000000	0.008621	0.003049	0.015267	0.07143	298.49	27	chr15	55869581	.	C	G	298.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.591;DP=180;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=0.352;SOR=0.818	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,947	6	0	1	0
chr15	55915930	55915930	A	G	exonic	NEDD4	.	nonsynonymous SNV	NEDD4:NM_001284338:exon1:c.T902C:p.I301T,NEDD4:NM_001284339:exon1:c.T902C:p.I301T,NEDD4:NM_001284340:exon1:c.T902C:p.I301T,NEDD4:NM_198400:exon1:c.T902C:p.I301T	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.0124801614458	.	.	0.0001	0	0	0	0	0	0	0.0009	9.7e-05	15	154602	rs745418424	6.362e-05	6.362e-05	1.361e-05	0.0001	0.0011	5.295e-05	4.911e-05	0.0009	0.0008	0	0	0	0	0	0	0	1.656e-05	0.0011	3.283e-05	3.281e-05	1.285e-05	5.369e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.001	0.78490	D	0.014	0.79402	D	0.007	0.14184	B	0.008	0.13708	B	0.051177	0.02021	N	2.215190	0.999873	0.50225	D	1.845	0.48678	L	0.78	0.49358	T	-0.36	0.14782	N	0.101	0.08506	-0.9419	0.42314	T	0.133	0.44642	T	10	0.04731229	0.04033	T	0.01248	0.31090	T	0.182	0.45420	0.342	0.33464	0.866542862993	0.86524	0.25105704394885187	0.25019	0.0780641134243	0.08785	0.360441446304	0.19450	T	0.188441	0.54235	T	-0.378764	0.03172	T	-0.398628	0.33543	T	0.182051329124557	0.19364	T	0.823018	0.48339	T	0.17978722	0.39066	0.18930845	0.42270	0.17978722	0.39066	0.18930845	0.42269	-2.314	0.04633	T	.	.	0.257	0.54876	B	.;.;.	.;.;.	2.633418	0.34246	19.57	0.99781893778253583	0.86867	0.48186	0.28150	N	AEDBCI	0.378045	0.46159	N	-0.134949124578256	0.35877	2.06641	0.0233960244339615	0.40804	2.441038	0.999999926854171	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.727631	0.95156	0	.	.	5.25	5.25	0.73169	6.241000	0.72327	11.180000	0.88279	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.340	0.66179	713	0.56348	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	1839.44	35	chr15	55915930	.	A	G	1839.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.267;DP=330;ExcessHet=0;FS=2.28;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=0.295;SOR=0.617	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	6	0	1	0
chr15	56094864	56094869	GTGGGT	-	exonic	RFX7	.	nonframeshift deletion	RFX7:NM_001368073:exon9:c.2568_2573del:p.P867_T868del,RFX7:NM_001368074:exon9:c.2568_2573del:p.P867_T868del,RFX7:NM_001370554:exon9:c.2568_2573del:p.P867_T868del,RFX7:NM_022841:exon10:c.2859_2864del:p.P964_T965del,RFX7:NM_001370561:exon12:c.2859_2864del:p.P964_T965del	.	436	1025	27	2	32	63	0.0148967	.	.	.	2814154	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0049	0.00279553	0.0025	0.0012	0.0022	0	0.0016	0.0024	0	0.0063	0.0001153	3	26028	rs551989191	0.0031	0.0032	0.0029	0.0033	0.0109	0.0031	0.0030	0.0103	0.0100	0.0007	0.0032	0.0008	0.0002	0.0016	0.0052	0.0028	0.0036	0.0109	0.0026	0.0026	0.0025	0.0028	0.0088	0.0024	0.0023	0.0067	0.0059	0.0009	0	0.0052	0.0003	0	0.0027	0.0069	0.0030	0.0024	0.0088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168699	0.432990	0.052486	0.114706	0.400000	0.078947	0.231707	0.113636	0.07143	2258.79	33	chr15	56094863	.	AGTGGGT	A	2258.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.37;DP=313;ExcessHet=0;FS=4.487;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.81;ReadPosRankSum=0.53;SOR=0.54	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1156	6	0	1	0
chr15	56243149	56243149	T	G	exonic	RFX7	.	nonsynonymous SNV	RFX7:NM_022841:exon2:c.A137C:p.Q46P,RFX7:NM_001370561:exon4:c.A137C:p.Q46P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.0746610266054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	536.45	33	chr15	56243149	.	T	G	536.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.092;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.632;SOR=0.751	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1212	6	0	1	0
chr15	56412369	56412369	T	G	exonic	TEX9	.	nonsynonymous SNV	TEX9:NM_001385050:exon6:c.T287G:p.L96W,TEX9:NM_001385052:exon6:c.T287G:p.L96W,TEX9:NM_001385051:exon7:c.T287G:p.L96W,TEX9:NM_001385040:exon8:c.T671G:p.L224W,TEX9:NM_001385043:exon8:c.T671G:p.L224W,TEX9:NM_001385046:exon8:c.T764G:p.L255W,TEX9:NM_001385048:exon8:c.T539G:p.L180W,TEX9:NM_001385042:exon9:c.T671G:p.L224W,TEX9:NM_001385044:exon9:c.T671G:p.L224W,TEX9:NM_001286449:exon10:c.T671G:p.L224W,TEX9:NM_001385041:exon10:c.T671G:p.L224W,TEX9:NM_001385045:exon10:c.T671G:p.L224W,TEX9:NM_001385047:exon10:c.T896G:p.L299W,TEX9:NM_198524:exon10:c.T896G:p.L299W	.	436	1061	24	1	0	26	0.0121043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.731	.	0.0006	0.00379393	0.0027	0	0.0007	0.0001	0	0.0013	0.0033	0.0143	0.0023997	371	154602	rs138888960	0.0014	0.0015	0.0010	0.0019	0.0142	0.0014	0.0014	0.0136	0.0133	5.977e-05	0.0005	0.0141	2.521e-05	1.872e-05	0.0074	0.0003	0.0024	0.0142	0.0011	0.0011	0.0009	0.0012	0.0135	0.0009	0.0009	0.0108	0.0099	4.812e-05	0	0.0012	0.0121	0	0	0	0.0004	0.0019	0.0135	0.002	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000984	0.40743	D	0.211030	0.999919	0.51042	D	2.98	0.85499	M	-1.8	0.83893	D	-5.31	0.84457	D	0.943	0.95491	0.587	0.91730	D	0.723	0.90510	D	10	0.012893707	0.00275	T	.	.	.	0.731	0.90589	.	.	0.988395186899	0.98827	0.5853811297663031	0.58467	0.0796653918758	0.08968	0.696838080883	0.66687	T	0.539138	0.84188	D	0.0924472	0.63464	D	0.371694	0.91135	D	0.105391751677975	0.12939	T	0.89611	0.72041	D	0.54575557	0.69719	0.7560238	0.85582	0.54575557	0.69720	0.7560238	0.85582	-13.525	0.91409	D	.	.	0.526	0.70994	A	.;.;.	.;.;.	5.148710	0.86229	28.8	0.96552747361804592	0.30229	0.94712	0.62071	D	AEFI	0.700217	0.65731	D	0.806357584445064	0.86503	8.906175	0.776385537658714	0.88109	9.460082	0.999499761303772	0.40007	0.706298	0.61202	0	0.709663	0.81188	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.77	5.77	0.91077	6.723000	0.74552	7.682000	0.65344	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.469	0.60723	394	0.83065	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004536	0.000000	0.004076	0.005848	0.055556	0.008621	0.000000	0.007576	0.08333	433.27	15	chr15	56412369	.	T	G	433.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.067;DP=156;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.122;SOR=0.744	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1081	5	0	1	1
chr15	57523567	57523567	C	A	exonic	CGNL1	.	nonsynonymous SNV	CGNL1:NM_032866:exon11:c.C2794A:p.L932I,CGNL1:NM_001252335:exon12:c.C2794A:p.L932I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.350	0.0637006668393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.187	0.28764	T	0.931	0.51899	P	0.688	0.53700	P	0.127863	0.18752	N	0.232855	0.876037	0.35656	D	3.005	0.85968	M	-1.52	0.81478	D	-1.57	0.37955	N	0.443	0.48134	0.079	0.83787	D	0.513	0.81719	D	10	0.3030254	0.47836	T	0.063701	0.69050	D	0.350	0.67142	0.202	0.11659	0.505028829284	0.50142	0.11616067249800203	0.11544	0.100634872147	0.11374	0.637490153313	0.58206	T	0.174695	0.52401	T	0.0366927	0.56609	T	-0.18507	0.56050	T	0.92698210477829	0.58957	D	0.89651	0.63872	D	0.122073546	0.28693	0.10765267	0.25920	0.122073546	0.28693	0.10765267	0.25919	-7.92	0.60524	D	.	.	0.242	0.47622	B	.	.	2.637390	0.34311	19.59	0.98395143142183628	0.40999	0.80249	0.39937	D	AEFDBI	0.352195	0.44504	N	-0.386033811710841	0.25965	1.413559	-0.529338572489326	0.21358	1.155003	0.333020746272919	0.19505	0.732398	0.92422	0	0.59043	0.45803	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.46	-3.71	0.04137	0.546000	0.22991	0.094000	0.14556	-0.819000	0.02980	1.000000	0.71638	0.975000	0.29991	0.979000	0.57723	0.0:0.6258:0.0:0.3742	16.441	0.83741	352	0.85375	Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr15	57523567	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1175	6	1	0	0
chr15	57523642	57523642	G	C	splicing	CGNL1	NM_032866:exon11:c.2868+1G>C;NM_001252335:exon12:c.2868+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393526	0.89538	D	0.327497	0.89407	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.823704	0.95784	35	0.99538815383370038	0.70336	0.99304	0.94225	D	AEFDBI	.	.	.	1.19902472003822	0.99541	23.607	1.04184117411279	0.99285	21.67433	0.999999999977438	0.74766	0.156188	0.03335	0	0.059962	0.00310	0	0.231514	0.04749	0	0.117559	0.03655	0	0.986644	0.94826	5.57	5.57	0.84021	9.249000	0.94640	11.640000	0.93781	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	0.0:0.0:1.0:0.0	19.909	0.97022	352	0.85375	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	166.27	29	chr15	57523642	.	G	C	166.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.811;DP=248;ExcessHet=0;FS=31.44;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.97;ReadPosRankSum=0.26;SOR=5.135	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1175:.	5	0	1	1
chr15	58184011	58184011	C	T	exonic	AQP9	.	nonsynonymous SNV	AQP9:NM_001320636:exon6:c.C569T:p.A190V,AQP9:NM_020980:exon6:c.C764T:p.A255V	.	.	.	.	.	.	.	.	.	.	.	2300546	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.212	0.0532007288818	.	.	7.413e-05	0	0.0004	0	0	5.994e-05	0	0	5.82e-05	9	154602	rs753410663	2.736e-05	2.736e-05	3.131e-05	2.338e-05	0.0003	2.062e-05	1.816e-05	0.0002	0.0001	0	0.0003	0	0	0	0	2.068e-05	8.279e-05	0	3.944e-05	3.94e-05	3.855e-05	4.038e-05	0.0003	1.716e-05	1.13e-05	8.877e-05	5.386e-05	0	0	0.0003	0.0003	0	0	0	1.47e-05	0	0	0.004	0.65419	D	0.061	0.66756	T	0.925	0.51395	P	0.925	0.65999	D	0.064297	0.21963	N	0.450211	0.999985	0.18198	N	2.87	0.83286	M	2.09	0.20122	T	-3.11	0.63669	D	0.34	0.38129	-0.5904	0.65205	T	0.213	0.57454	T	10	0.62477845	0.68180	D	0.053201	0.65376	D	0.212	0.50341	0.752	0.88237	0.259272394797	0.25527	0.9533465858424457	0.95318	0.0563462396271	0.06225	0.377541035414	0.21906	T	0.722822	0.96825	D	-0.315256	0.07293	T	-0.39306	0.34193	T	0.759958624839783	0.43849	D	0.89491	0.63503	D	0.24531204	0.47489	0.26754674	0.52613	0.24531204	0.47489	0.26754674	0.52612	-8.799	0.66394	D	.	.	0.837	0.79102	P	.;.;.	.;.;.	3.501076	0.48979	22.7	0.99658864697161309	0.77820	0.73995	0.36193	D	AEFDGBI	0.746168	0.68862	D	0.0976483152025463	0.46353	2.876948	-0.111523305690646	0.34925	2.014535	0.999760389983276	0.42728	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.84	1.51	0.22094	1.952000	0.39968	.	.	-0.218000	0.08083	0.964000	0.33853	0.834000	0.27239	0.438000	0.27627	0.0:0.4503:0.5497:0.0	19.287	0.94064	910	0.22284	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr15	58184011	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1221	6	1	0	0
chr15	58772221	58772221	C	T	exonic	MINDY2	.	nonsynonymous SNV	MINDY2:NM_001040450:exon1:c.C826T:p.L276F,MINDY2:NM_001040453:exon1:c.C826T:p.L276F	.	420	1072	30	0	0	30	0.0137994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	0.0024	0.00539137	0.0045	0.0009	0.0006	0	0	0.0036	0.0045	0.0168	0.0042949	664	154602	rs116990761	0.0040	0.0040	0.0035	0.0044	0.0175	0.0039	0.0039	0.0168	0.0165	0.0005	0.0011	0.0044	0	0.0002	0.0083	0.0034	0.0040	0.0175	0.0025	0.0025	0.0025	0.0024	0.0176	0.0022	0.0022	0.0146	0.0135	0.0006	0.0011	0.0014	0.0040	0	0.0003	0.0068	0.0032	0.0033	0.0176	0.321	0.13522	T	0.397	0.15255	T	0.062	0.23277	B	0.074	0.28220	B	0.000159	0.49130	D	0.141146	0.999961	0.52935	D	.	.	.	0.59	0.53943	T	-1.28	0.32185	N	0.162	0.20262	-1.0364	0.18419	T	0.083	0.32700	T	10	0.010864854	0.00240	T	.	.	.	0.084	0.24469	.	.	0.453679287548	0.44989	0.739232985880035	0.73868	0.154374116842	0.17432	0.675354957581	0.63603	T	0.059421	0.31111	T	-0.384419	0.02921	T	-0.311342	0.43513	T	0.0426201060313368	0.04169	T	0.827217	0.49094	T	0.3151482	0.54228	0.30089948	0.56123	0.3151482	0.54228	0.30089948	0.56122	-4.753	0.34039	T	.	.	0.160	0.41310	B	.;.	.;.	3.271835	0.44790	22.0	0.98482361848760158	0.41990	0.63465	0.32098	D	AEFDGBHCI	0.382164	0.46415	N	-0.1587078793945	0.34866	1.995554	0.0139721358362734	0.40364	2.407628	0.999999999371329	0.74766	0.40479	0.06251	1	0.516746	0.08562	0	0.52208	0.10781	0	0.665054	0.64577	0	.	.	4.95	3.82	0.43153	1.645000	0.36855	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9142:0.0:0.0858	14.175	0.65074	910	0.22284	MINDY deubiquitinase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.015152	0.07143	835.44	34	chr15	58772221	.	C	T	835.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.552;DP=263;ExcessHet=0;FS=3.171;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=1.04;SOR=0.386	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1229	6	0	1	0
chr15	59123539	59123539	C	T	exonic	CCNB2	.	nonsynonymous SNV	CCNB2:NM_004701:exon8:c.C998T:p.T333I	.	441	1079	2	0	0	2	0.000925926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.029526233376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	2.052e-06	0	2.754e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.317e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.30656	T	0.081	0.51421	T	0.799	0.44910	P	0.69	0.53781	P	0.000000	0.84330	D	0.050387	0.999659	0.48079	D	2.76	0.80626	M	1.62	0.28189	T	-1.62	0.40468	N	0.64	0.65245	-0.6813	0.61312	T	0.220	0.58332	T	10	0.7429799	0.75090	D	0.029526	0.52020	D	0.249	0.55752	0.759	0.88811	0.852573532592	0.85115	0.726605649599939	0.72604	0.551851109033	0.52016	0.633831262589	0.57688	T	0.37723	0.74046	T	0.0123636	0.53348	T	-0.220017	0.52735	T	0.957615673542023	0.65056	D	0.882712	0.65783	D	0.16603227	0.36912	0.17167073	0.39367	0.16603227	0.36912	0.17167073	0.39366	-8.555	0.64792	D	.	.	0.638	0.73675	P	.;.;.	.;.;.	4.667684	0.74564	26.2	0.9975715235371454	0.84772	0.94205	0.60432	D	AEFDBCI	0.637206	0.61607	D	0.643955632217772	0.75979	6.402496	0.620207277046173	0.76409	6.485668	0.999999615124575	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.53	5.53	0.82530	3.867000	0.55760	5.965000	0.51894	0.549000	0.26987	0.998000	0.41325	1.000000	0.68203	0.957000	0.51019	0.0:1.0:0.0:0.0	18.458	0.90674	516	0.74704	Cyclin, C-terminal domain|Cyclin-like|Cyclin, C-terminal domain|Cyclin-like;Cyclin, C-terminal domain;Cyclin, C-terminal domain|Cyclin-like|Cyclin, C-terminal domain|Cyclin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1351.26	34	chr15	59123539	.	C	T	1351.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.343;DP=280;ExcessHet=0.3476;FS=1.377;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=1.39;SOR=0.834	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1322	5	0	2	0
chr15	59227547	59227547	T	C	exonic	MYO1E	.	nonsynonymous SNV	MYO1E:NM_004998:exon7:c.A554G:p.D185G	Glomerulosclerosis, focal segmental, 6, Autosomal recessive	0	1500	22	0	0	22	0.00727995	.	.	.	491462	Inborn_genetic_diseases|not_provided|Focal_segmental_glomerulosclerosis_6|not_specified	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0013589,MedGen:C3279905,OMIM:614131,Orphanet:656|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.667	0.0744304599391	0.0012	0.00199681	0.0025	9.61e-05	0.0004	0	0.0002	0.0021	0.0055	0.0091	0.0023544	364	154602	rs141565214	0.0017	0.0017	0.0015	0.0019	0.0080	0.0016	0.0016	0.0075	0.0073	0.0003	0.0010	0.0050	2.519e-05	9.36e-05	0.0035	0.0013	0.0022	0.0080	0.0012	0.0012	0.0012	0.0012	0.0060	0.0011	0.0010	0.0043	0.0037	0.0002	0.0033	0.0005	0.0043	0.0002	9.411e-05	0.0068	0.0017	0.0009	0.0060	0.326	0.13306	T	0.469	0.19721	T	0.866	0.47610	P	0.593	0.50536	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.32	0.33002	L	-2.21	0.86963	D	-4.4	0.84246	D	0.834	0.82964	0.108	0.84331	D	0.632	0.87110	D	10	0.021706969	0.00525	T	0.07443	0.72040	D	0.667	0.87625	.	.	0.912824647196	0.91194	0.740584323720885	0.74003	0.750666835557	0.63765	0.818154335022	0.84745	D	0.704432	0.91517	D	-0.0477703	0.44786	T	0.163732	0.81033	D	0.0309252870108907	0.02134	T	0.970703	0.90433	D	0.68726736	0.77363	0.6976197	0.82191	0.7964707	0.83683	0.6917096	0.81858	-13.019	0.89443	D	.	.	0.678	0.72066	P	.;.	.;.	4.978052	0.82433	27.8	0.99691227329691356	0.79977	0.98504	0.83480	D	AEFDGBI	0.920516	0.89261	D	0.539640596779245	0.69453	5.359138	0.611501830407546	0.75774	6.370387	0.999999999999793	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	6.02	6.02	0.97559	8.017000	0.88732	6.211000	0.55013	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	16.545	0.84275	391	0.83213	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.005051	0.000000	0.000000	0.000000	0.000000	0.006098	0.011364	0.07143	575.44	34	chr15	59227547	.	T	C	575.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.59;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-0.28;SOR=0.859	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr15	62164567	62164567	G	T	exonic	C2CD4B	.	nonsynonymous SNV	C2CD4B:NM_001007595:exon2:c.C418A:p.L140M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00473962247016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.672e-07	1.368e-06	0	2.041e-06	5.066e-05	0	0	.	.	0	0	0	0	0	0	0	0	5.066e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.094	0.39645	T	0.699	0.41837	P	0.146	0.33945	B	0.616041	0.05729	U	1.462510	1	0.08975	N	1.86	0.49225	L	1.5	0.31205	T	-0.26	0.11185	N	0.157	0.16308	-1.0661	0.10293	T	0.054	0.22731	T	10	0.09061715	0.15802	T	0.00474	0.11816	T	0.045	0.12272	0.159	0.06287	0.185906805712	0.18197	0.06498091210684075	0.06437	1.02390780993	0.75202	0.795160293579	0.81227	T	0.003076	0.02473	T	-0.234973	0.15996	T	-0.575299	0.14966	T	0.334537535905838	0.26406	T	0.262274	0.04237	T	0.08632908	0.20061	0.059878334	0.11311	0.08632908	0.20060	0.059878334	0.11311	-7.011	0.54114	T	.	.	0.139	0.30529	B	.	.	1.013277	0.13924	10.48	0.96147878028651734	0.28856	0.04613	0.10272	N	AEFDBCI	0.084825	0.17193	N	-1.00390430226808	0.08523	0.3999126	-1.27322383520291	0.04795	0.2270734	0.999999695317524	0.74766	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.621717	0.48901	0	.	.	2.9	-5.81	0.02148	-0.014000	0.12594	-0.106000	0.11884	-0.297000	0.06226	0.082000	0.22389	0.000000	0.08366	0.002000	0.04165	0.3114:0.3101:0.1355:0.2429	0.670	0.00802	279	0.89001	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	30.6	2	chr15	62164567	.	G	T	30.6	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.967;DP=37;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0;SOR=0.223	GT:AD:DP:GQ:PL	0/0:10,0:10:30:0,30,293	5	0	1	1
chr15	63733069	63733069	G	T	exonic	HERC1	.	nonsynonymous SNV	HERC1:NM_003922:exon14:c.C2723A:p.P908H	Macrocephaly, dysmorphic facies, and psychomotor retardation, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.00730263987926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.089	0.40426	T	0.996	0.68779	D	0.819	0.59018	P	0.000001	0.84330	U	0.000000	1	0.81001	D	1.845	0.48678	L	1.85	0.24472	T	-2.82	0.59545	D	0.693	0.69825	-1.0660	0.10316	T	0.101	0.37443	T	10	0.59249175	0.66458	D	0.007303	0.19361	T	0.200	0.48430	0.262	0.20631	0.0675242888579	0.06100	0.6960315156182948	0.69544	1.81904149791	0.91904	0.727800488472	0.71185	T	0.264697	0.63650	T	0.00281006	0.52040	T	-0.23374	0.51408	T	0.958842158317566	0.65377	D	0.905509	0.66687	D	0.36547986	0.58249	0.29952487	0.55986	0.36547986	0.58249	0.29952487	0.55985	-4.867	0.35362	T	.	.	0.403	0.59716	A	.	.	4.021344	0.59398	24.1	0.99704234927716773	0.80867	0.99631	0.98164	D	AEFBI	0.821558	0.74209	D	0.674411222627061	0.77957	6.775666	0.687388825995752	0.81421	7.522594	0.999906837561712	0.45458	0.719381	0.83141	0	0.723133	0.82719	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.67	4.75	0.59954	5.675000	0.67796	10.028000	0.83159	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0697:0.0:0.9303:0.0	15.021	0.71291	690	0.58899	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	38	chr15	63733069	.	G	T	33.22	.	AC=2;AF=0.143;AN=14;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	1	0	0
chr15	63775396	63775396	G	C	exonic	HERC1	.	nonsynonymous SNV	HERC1:NM_003922:exon2:c.C228G:p.D76E	Macrocephaly, dysmorphic facies, and psychomotor retardation, Autosomal recessive	431	1076	15	0	0	15	0.00692201	.	.	.	1266616	HERC1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.312	.	0.0002	0.0197684	0.0116	0.0001	0.0003	0.0001	0	0.0001	0.0034	0.0834	0.0100193	1549	154602	rs376195217	0.0052	0.0052	0.0029	0.0076	0.0831	0.0051	0.0051	0.0815	0.0809	0.0001	2.236e-05	0	0.0002	3.746e-05	0.0024	6.476e-05	0.0056	0.0831	0.0030	0.0030	0.0016	0.0045	0.0909	0.0028	0.0027	0.0839	0.0811	0.0002	0	0.0001	0	0	9.422e-05	0	0.0001	0.0005	0.0909	0.888	0.02495	T	1.0	0.02434	T	0.001	0.07471	B	0.001	0.04355	B	0.000014	0.62929	U	0.064498	0.993986	0.42120	D	-1.935	0.00224	N	6.91	0.00471	T	0.22	0.18670	N	0.038	0.01203	-0.9458	0.41681	T	0.001	0.00222	T	10	0.0016878545	0.00021	T	.	.	.	0.312	0.63375	0.133	0.03747	.	.	0.0961374644490417	0.09545	0.637506906405	0.57491	0.832511484623	0.86948	D	0.070467	0.33966	T	-0.659024	0.00064	T	-0.655188	0.08595	T	0.0149431800913225	0.00319	T	0.877212	0.59013	D	0.042579513	0.06484	0.07137959	0.15278	0.052413862	0.09771	0.07137959	0.15277	-2.161	0.03855	T	.	.	0.117	0.48613	B	.;.;.;.	.;.;.;.	2.758218	0.36172	20.2	0.37748967229651575	0.02506	0.88574	0.48565	D	AEFDBI	0.171995	0.29901	N	-0.562537556287449	0.20093	1.056657	-0.296704841895762	0.28207	1.570851	0.213175535844685	0.18265	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.65	3.44	0.38486	2.526000	0.45267	4.942000	0.46218	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.2269:0.0:0.7731:0.0	10.703	0.45136	657	0.62240	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.012085	0.000000	0.000000	0.014620	0.000000	0.008621	0.003049	0.053030	0.1429	6289.22	37	chr15	63775396	.	G	C	6289.22	.	AC=2;AF=0.143;AN=14;DP=382;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=32.42;SOR=0.823	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	1	0	0
chr15	63922922	63922922	A	C	exonic	DAPK2	.	nonsynonymous SNV	DAPK2:NM_001363730:exon10:c.T1280G:p.F427C	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0255157666757	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1370361571	2.096e-05	1.984e-05	1.712e-05	2.49e-05	2.596e-05	1.471e-05	1.271e-05	1.8e-05	1.549e-05	0	0	0	0	0	0	2.596e-05	0	1.262e-05	6.567e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.001	0.78490	D	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.42	0.69536	T	-1.5	0.36586	N	0.389	0.43029	.	.	.	.	.	.	.	0.24761593	0.42045	T	0.025516	0.48485	D	.	.	.	.	0.746264508851	0.74398	0.34196041361907936	0.34109	.	.	.	.	.	.	.	.	-0.061971	0.42597	T	-0.301613	0.44555	T	.	.	.	0.527447	0.17405	T	.	.	.	.	.	.	.	.	-2.259	0.04336	T	.	.	0.179	0.39029	B	.;.	.;.	2.186159	0.27867	17.61	0.98376179654662066	0.40801	0.91959	0.54634	D	AEFGBI	0.639821	0.61774	D	.	.	.	.	.	.	0.999969368984249	0.48965	0.487112	0.14033	0	0.446627	0.06534	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.26	2.55	0.29757	3.188000	0.50658	7.466000	0.59102	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.643000	0.32503	0.4589:0.0:0.0:0.5411	8.736	0.33688	117	0.95266	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1596.44	49	chr15	63922922	.	A	C	1596.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.073;DP=359;ExcessHet=0;FS=7.205;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=0.049;SOR=0.306	GT:AD:DP:GQ:PL	0/0:69,0:69:99:0,120,1800	6	0	1	0
chr15	64944682	64944682	C	T	exonic	ANKDD1A	.	nonsynonymous SNV	ANKDD1A:NM_182703:exon12:c.C1096T:p.R366C	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.508	.	0.0008	0.00279553	0.0014	0.0004	0.0007	0	0.0008	0.0007	0.0011	0.0066	0.0013066	202	154602	rs144426862	0.0010	0.0010	0.0008	0.0011	0.0055	0.0009	0.0009	0.0051	0.0049	0.0003	0.0008	0.0080	2.519e-05	0.0007	0.0021	0.0005	0.0015	0.0055	0.0009	0.0009	0.0008	0.0011	0.0083	0.0008	0.0007	0.0063	0.0055	0.0002	0	0.0004	0.0101	0	0.0004	0	0.0006	0.0019	0.0083	0.014	0.53172	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000028	0.55875	D	0.000000	1	0.81001	D	2.16	0.60381	M	-0.26	0.67187	T	-2.88	0.60507	D	0.754	0.76481	-0.1455	0.79028	T	0.440	0.77859	T	10	0.01610741	0.00339	T	.	.	.	0.508	0.78848	.	.	0.855414261099	0.85401	0.7731861323589757	0.77268	.	.	0.329505622387	0.14859	T	0.213192	0.57443	T	-0.0316921	0.47170	T	0.183619	0.82203	D	0.0525013322504808	0.05934	T	0.932007	0.74652	D	0.66055816	0.75929	0.5445342	0.73673	0.66055816	0.75930	0.5445342	0.73674	-7.591	0.58248	D	.	.	0.304	0.53316	B	.;.	.;.	5.073946	0.84639	28.4	0.99930647188692245	0.99334	0.90517	0.51758	D	AEFDGBI	0.652346	0.62578	D	0.704234473627106	0.79909	7.178674	0.691130652583448	0.81706	7.58956	0.433627658051257	0.20394	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.23	5.23	0.72570	4.753000	0.61880	1.965000	0.29958	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	17.564	0.87811	245	0.90404	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.002924	0.100000	0.000000	0.006098	0.007576	0.07143	2557.45	33	chr15	64944682	.	C	T	2557.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.37;DP=332;ExcessHet=0;FS=4.397;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.96;ReadPosRankSum=-0.701;SOR=1.112	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	6	0	1	0
chr15	65076567	65076567	G	C	exonic	RASL12	.	nonsynonymous SNV	RASL12:NM_001379429:exon1:c.C32G:p.S11C	.	374	1147	1	0	0	1	0.00043573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.00639221352192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.454e-06	1.051e-05	3.962e-06	6.719e-06	0.0002	1.45e-06	4e-07	1.05e-06	3.9e-07	0	0	0	0	0	0.0002	6.305e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.036	0.52060	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.27	0.67367	T	-0.12	0.08809	N	0.243	0.27435	-0.9738	0.36387	T	0.140	0.45997	T	6	0.17781413	0.32834	T	0.006392	0.16812	T	0.088	0.25558	0.528	0.63412	0.536427718672	0.53293	.	.	.	.	.	.	.	.	.	.	-0.160598	0.26669	T	-0.468465	0.25681	T	0.0878540650086991	0.10961	T	0.218178	0.02774	T	.	.	.	.	.	.	.	.	-4.627	0.32509	T	.	.	0.084	0.09481	B	.	.	1.116870	0.15023	11.53	0.89155115746111124	0.18557	0.02369	0.06743	N	AEFBIJ	0.026647	0.02039	N	-0.71980955887341	0.15466	0.7796275	-0.916157052581251	0.11713	0.5984108	0.0167346138333663	0.12866	0.59774	0.34471	0	0.547309	0.14657	0	0.514364	0.09456	0	0.63947	0.58350	0	.	.	.	.	.	0.012000	0.13184	-0.046000	0.12607	0.098000	0.17617	0.187000	0.24151	0.005000	0.19230	0.150000	0.20306	.	.	.	315	0.87208	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1394.44	35	chr15	65076567	.	G	C	1394.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.828;DP=302;ExcessHet=0;FS=2.397;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-0.238;SOR=0.945	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1182	6	0	1	0
chr15	65375359	65375359	A	C	exonic	IGDCC3	.	nonsynonymous SNV	IGDCC3:NM_004884:exon2:c.T147G:p.S49R	.	.	.	.	.	.	.	.	.	.	.	4150769	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.242	0.0307965821773	.	.	2.501e-05	0	0	0	0	4.539e-05	0	0	1.94e-05	3	154602	rs971761313	7.552e-06	8.209e-06	9.547e-06	5.53e-06	0.0002	4.05e-06	2.96e-06	3.11e-06	2.25e-06	0	2.241e-05	0	0	0	0.0002	7.222e-06	1.663e-05	0	1.972e-05	1.97e-05	2.57e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.247	0.17296	T	0.013	0.63109	D	0.922	0.51142	P	0.724	0.55036	P	0.000098	0.51296	D	0.173956	0.677326	0.33200	D	0.965	0.23975	L	-0.23	0.66652	T	-1.49	0.36385	N	0.389	0.43029	-0.5233	0.67792	T	0.228	0.59296	T	10	0.19900832	0.35893	T	0.030797	0.53030	D	0.242	0.54781	0.345	0.33950	0.375861065471	0.37200	0.6680216033378564	0.66740	0.595986134547	0.54857	0.560665726662	0.47363	T	0.122205	0.44571	T	-0.242733	0.15003	T	-0.478788	0.24574	T	0.215583115816116	0.21241	T	0.762724	0.38847	T	0.14398085	0.33069	0.13174501	0.31628	0.14398085	0.33068	0.13174501	0.31627	-6.716	0.51931	T	.	.	0.241	0.47513	B	.	.	0.370218	0.07427	4.056	0.96767874632756978	0.31023	0.11964	0.16974	N	AEFGBI	0.127394	0.24473	N	-0.977155342316528	0.09093	0.4289608	-1.21052520601847	0.05740	0.2743493	0.999999701159576	0.74766	0.740716	0.97744	0	0.563428	0.19063	0	0.0	0.00061	3	0.530356	0.10902	0	.	.	5.63	-6.89	0.01501	-1.124000	0.03372	-3.505000	0.02736	-0.137000	0.12594	0.001000	0.13787	0.000000	0.08366	0.019000	0.11356	0.7256:0.0:0.2744:0.0	17.974	0.89042	457	0.78953	Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	3731.87	36	chr15	65375359	.	A	C	3731.87	.	AC=3;AF=0.214;AN=14;BaseQRankSum=2.29;DP=316;ExcessHet=0;FS=0.669;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=22.35;ReadPosRankSum=-1.979;SOR=0.804	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,117,1755	5	1	1	0
chr15	65451984	65451984	A	G	exonic	DPP8	.	nonsynonymous SNV	DPP8:NM_017743:exon16:c.T2090C:p.M697T,DPP8:NM_001320876:exon18:c.T2390C:p.M797T,DPP8:NM_130434:exon18:c.T2390C:p.M797T,DPP8:NM_197961:exon18:c.T2285C:p.M762T,DPP8:NM_001320875:exon19:c.T2438C:p.M813T,DPP8:NM_197960:exon19:c.T2438C:p.M813T	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.00823701715348	.	.	8.251e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs777481618	4.817e-06	6.84e-06	2.739e-06	6.917e-06	2.346e-05	2e-06	1.29e-06	8.4e-07	5.7e-07	0	2.346e-05	0	0	0	0	3.607e-06	3.334e-05	0	6.61e-06	6.582e-06	1.291e-05	0	6.609e-05	0	0	.	.	0	0	6.609e-05	0	0	0	0	0	0	0	0.824	0.29554	T	0.589	0.08654	T	0.012	0.49086	B	0.002	0.45803	B	0.000000	0.84330	D	0.000000	0.997141	0.43662	D	-1.265	0.00749	N	1.62	0.28189	T	-0.65	0.18877	N	0.535	0.59393	-0.9759	0.35926	T	0.027	0.11663	T	10	0.1748144	0.32381	T	0.008237	0.21827	T	0.354	0.67510	0.376	0.38994	0.151262610727	0.14761	0.8890398347277562	0.88872	2.3366587761	0.96723	0.743505001068	0.73488	T	0.080255	0.36320	T	0.0462058	0.57852	T	-0.171405	0.57315	T	0.414682662815717	0.29492	T	0.888511	0.61827	D	0.40245137	0.60902	0.23881282	0.49214	0.40245137	0.60902	0.23881282	0.49213	-6.075	0.47436	T	.	.	0.355	0.64568	A	.;.;.;.;.	.;.;.;.;.	3.979007	0.58476	24.0	0.91751131744919623	0.21050	0.97903	0.78000	D	AEFBI	0.847649	0.76450	D	-0.322037675143283	0.28313	1.560606	-0.0339048942014366	0.38195	2.246801	0.677564385034323	0.22442	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.29	5.29	0.74430	7.187000	0.77268	9.307000	0.79926	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.227	0.73050	449	0.79428	Peptidase S9, prolyl oligopeptidase, catalytic domain;.;.;.;Peptidase S9, prolyl oligopeptidase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	575.83	35	chr15	65451984	.	A	G	575.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.275;DP=257;ExcessHet=0;FS=2.145;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.14;ReadPosRankSum=0.242;SOR=1.101	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr15	65624503	65624503	G	C	exonic	SLC24A1	.	nonsynonymous SNV	SLC24A1:NM_001301031:exon1:c.G423C:p.K141N,SLC24A1:NM_001301032:exon1:c.G423C:p.K141N,SLC24A1:NM_004727:exon2:c.G423C:p.K141N,SLC24A1:NM_001301033:exon4:c.G423C:p.K141N	Night blindness, congenital stationary (complete), 1D, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0437088708563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0098	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0002	0.0002	0	7.768e-05	0	0	0	0.0002	8.519e-05	4.757e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.961	0.70482	D	0.036487	0.24515	N	0.289027	1	0.08975	N	1.83	0.48079	L	-0.39	0.72125	T	-1.89	0.44094	N	0.193	0.26957	-0.6646	0.62072	T	0.376	0.73370	T	10	0.14750645	0.27949	T	0.043709	0.61120	D	0.071	0.20720	0.248	0.18447	0.814655732074	0.81291	0.06411332316461787	0.06350	0.277029944497	0.30173	0.317594438791	0.13056	T	0.022452	0.58404	T	-0.167159	0.25664	T	-0.477889	0.24671	T	0.523743510246277	0.33503	D	0.830817	0.50934	T	0.14003113	0.32323	0.15122224	0.35631	0.14003113	0.32323	0.15122224	0.35630	-5.061	0.37611	T	.	.	0.386	0.58803	A	.;.;.;.;.;.	.;.;.;.;.;.	1.694742	0.21594	15.27	0.99300094975893183	0.58577	0.11248	0.16507	N	AEFBI	0.045447	0.07435	N	-0.329018778326971	0.28049	1.543991	-0.502545089104272	0.22083	1.197762	0.0106939354388256	0.12067	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.78	2.88	0.32617	1.145000	0.31189	2.573000	0.33375	-0.106000	0.15538	0.012000	0.18695	0.972000	0.29809	0.129000	0.19529	0.2157:0.0:0.7843:0.0	6.818	0.23027	605	0.67457	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	216.82	105	chr15	65624503	.	G	C	216.82	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.174;DP=357;ExcessHet=0.4139;FS=149.765;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.25;ReadPosRankSum=3.25;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,99,1485:.	5	0	1	1
chr15	66323552	66323552	C	T	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon10:c.C1256T:p.A419V,DIS3L:NM_001323940:exon10:c.C524T:p.A175V,DIS3L:NM_001323943:exon10:c.C524T:p.A175V,DIS3L:NM_001323948:exon10:c.C1454T:p.A485V,DIS3L:NM_001143688:exon11:c.C1634T:p.A545V,DIS3L:NM_001323936:exon11:c.C1385T:p.A462V,DIS3L:NM_001323938:exon11:c.C1232T:p.A411V,DIS3L:NM_001323941:exon11:c.C1232T:p.A411V,DIS3L:NM_001323944:exon11:c.C1583T:p.A528V,DIS3L:NM_001323945:exon11:c.C1385T:p.A462V,DIS3L:NM_001323946:exon11:c.C1232T:p.A411V,DIS3L:NM_133375:exon11:c.C1385T:p.A462V,DIS3L:NM_001323939:exon12:c.C1232T:p.A411V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.0286702996662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48642	D	0.058	0.51112	T	0.87	0.47827	P	0.688	0.53700	P	0.001291	0.39521	N	0.304541	0.990122	0.81001	D	2.215	0.62545	M	0.94	0.43672	T	-2.96	0.63554	D	0.497	0.53093	-0.6049	0.64614	T	0.235	0.60246	T	10	0.6045246	0.67099	D	0.02867	0.51308	D	0.213	0.50496	0.442	0.49811	0.608043754429	0.60489	0.49086214745566503	0.49006	0.547469509892	0.51713	0.496355473995	0.38320	T	0.165612	0.51153	T	-0.0705092	0.41244	T	-0.339058	0.40450	T	0.977731049060822	0.71985	D	0.973803	0.90577	D	0.5377608	0.69271	0.38422713	0.63368	0.5377608	0.69272	0.38422713	0.63368	-10.667	0.77800	D	.	.	0.234	0.46722	B	.;.	.;.	4.134693	0.61898	24.4	0.99783263657128929	0.86955	0.90306	0.51377	D	ALL	0.662960	0.63265	D	0.220268022662979	0.52183	3.394051	0.121934391935504	0.45673	2.826307	1.0	0.98316	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.74	4.82	0.61641	5.917000	0.69720	7.521000	0.59763	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.8649:0.1351:0.0	15.939	0.79524	639	0.64210	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	43.44	33	chr15	66323552	.	C	T	43.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.497;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.62;ReadPosRankSum=2.26;SOR=0.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1166:.	6	0	1	0
chr15	66326260	66326260	C	G	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon11:c.C1719G:p.S573R,DIS3L:NM_001323940:exon11:c.C987G:p.S329R,DIS3L:NM_001323943:exon11:c.C987G:p.S329R,DIS3L:NM_001323948:exon11:c.C1917G:p.S639R,DIS3L:NM_001143688:exon12:c.C2097G:p.S699R,DIS3L:NM_001323936:exon12:c.C1848G:p.S616R,DIS3L:NM_001323938:exon12:c.C1695G:p.S565R,DIS3L:NM_001323941:exon12:c.C1695G:p.S565R,DIS3L:NM_001323944:exon12:c.C2046G:p.S682R,DIS3L:NM_001323945:exon12:c.C1848G:p.S616R,DIS3L:NM_001323946:exon12:c.C1695G:p.S565R,DIS3L:NM_133375:exon12:c.C1848G:p.S616R,DIS3L:NM_001323939:exon13:c.C1695G:p.S565R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00807237602779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	7.595e-05	1.363e-06	1.376e-06	1.801e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	0	0	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.155	0.25355	T	0.353	0.17320	T	0.029	0.19866	B	0.033	0.22329	B	0.055829	0.22610	N	0.539436	0.999548	0.47497	D	-0.285	0.03692	N	1.3	0.35590	T	-1.92	0.44657	N	0.196	0.22228	-1.0764	0.08063	T	0.043	0.18618	T	10	0.08429423	0.14113	T	0.008072	0.21393	T	0.025	0.05312	0.424	0.46857	0.500994481783	0.49735	0.48282530288770603	0.48202	0.189759959303	0.21295	0.441389143467	0.30767	T	0.019826	0.15725	T	-0.2058	0.19975	T	-0.533394	0.18948	T	0.371591597795486	0.27858	T	0.811819	0.46320	T	0.13266377	0.30883	0.17544033	0.40009	0.13266377	0.30882	0.17544033	0.40008	-9.64	0.71728	D	.	.	0.195	0.42820	B	.;.	.;.	2.006311	0.25495	16.78	0.99354999151066503	0.60738	0.93367	0.58027	D	AEFBI	0.310496	0.41649	N	-0.52080163687102	0.21409	1.135919	-0.344169861240159	0.26690	1.475863	0.235350875039061	0.18512	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	2.44	0.28875	0.637000	0.24348	0.590000	0.19811	0.581000	0.30040	0.997000	0.40164	0.998000	0.33993	0.995000	0.73285	0.0:0.5695:0.1341:0.2964	5.619	0.16725	644	0.63734	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	187.05	56	chr15	66326260	.	C	G	187.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.347;DP=352;ExcessHet=1.383;FS=285.591;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.91;ReadPosRankSum=1.3;SOR=7.903	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	3	0	3	1
chr15	66781462	66781462	G	T	exonic	SMAD6	.	nonsynonymous SNV	SMAD6:NM_005585:exon4:c.G1418T:p.G473V	Aortic valve disease 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.974	0.520271951209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.685	0.94485	H	-7.0	0.99828	D	-8.76	0.97728	D	0.928	0.93252	0.946	0.96328	D	0.995	0.99882	D	10	0.9713853	0.96751	D	0.520272	0.95436	D	0.974	0.99740	.	.	0.967001650321	0.96664	0.8793881986586296	0.87905	1.01753635888	0.74995	0.812061071396	0.83808	D	0.99193	0.99970	D	0.585078	0.97320	D	0.602647	0.97277	D	0.999417304992676	0.97310	D	0.978627	0.92475	D	0.9931378	0.99905	0.9824477	0.99876	0.9931378	0.99905	0.9824477	0.99877	-15.44	0.96798	D	0.6869087200514594	0.76409	0.999	0.98907	P	.	.	5.472091	0.91285	32	0.99762450924625323	0.85172	0.99268	0.93707	D	AEFDBI	0.964385	0.98650	D	1.07572918353069	0.97658	16.51951	1.00967386719567	0.98806	19.445	1.0	0.98316	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.71	5.71	0.89031	9.873000	0.98476	11.711000	0.94653	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.858	0.96765	424	0.81215	SMAD domain, Dwarfin-type|SMAD domain, Dwarfin-type|SMAD domain, Dwarfin-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1609.83	33	chr15	66781462	.	G	T	1609.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.43;DP=283;ExcessHet=0;FS=1.621;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=1.92;SOR=0.88	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1267	6	0	1	0
chr15	67261344	67261344	G	T	exonic	IQCH	.	nonsynonymous SNV	IQCH:NM_001031715:exon2:c.G124T:p.D42Y,IQCH:NM_022784:exon2:c.G124T:p.D42Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.0952352843916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.956e-07	6.843e-07	0	1.398e-06	1.22e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.22e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.006	0.76473	D	0.999	0.77913	D	0.958	0.70027	D	0.000278	0.46590	D	0.178745	0.708371	0.81001	D	2.215	0.62545	M	0.06	0.61798	T	-6.68	0.92391	D	0.704	0.70790	-0.4122	0.71640	T	0.349	0.71352	T	10	0.6483167	0.69456	D	0.095235	0.76394	D	0.311	0.63269	0.349	0.34598	0.366848117066	0.36290	0.46602494380522824	0.46521	0.537137804364	0.51028	0.402970671654	0.25482	T	0.28221	0.65494	T	0.114276	0.65791	D	-0.0736268	0.65367	T	0.9743664066177	0.70477	D	0.811219	0.47908	T	0.4924361	0.66648	0.32452008	0.58375	0.4924361	0.66649	0.32452008	0.58374	-5.84	0.44921	T	.	.	0.264	0.50287	B	.;.	.;.	3.798547	0.54714	23.5	0.99359892237288783	0.60946	0.85693	0.44854	D	AEFI	0.206041	0.33234	N	0.388501634513169	0.60797	4.272861	0.314945229687919	0.56418	3.805022	0.999969045749487	0.48965	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.71	3.84	0.43422	2.580000	0.45733	7.536000	0.59999	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.597000	0.31313	0.1724:0.0:0.8276:0.0	8.869	0.34463	922	0.19044	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	25	chr15	67261344	.	G	T	33.22	.	AC=2;AF=0.143;AN=14;DP=174;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	1	0	0
chr15	67826673	67826673	T	G	exonic	SKOR1	.	nonsynonymous SNV	SKOR1:NM_001365915:exon2:c.T845G:p.L282R	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.095764245124	0.0015	0.000399361	0.0012	0	0.0012	0	0	0.0021	0	0	0.0007309	113	154602	rs199971924	0.0021	0.0020	0.0022	0.0019	0.0025	0.0020	0.0020	0.0024	0.0024	0.0002	0.0013	0.0025	0	0.0002	0.0002	0.0025	0.0016	0	0.0011	0.0011	0.0012	0.0010	0.0018	0.0010	0.0009	0.0015	0.0014	0.0002	0	0.0015	0.0032	0	0.0002	0	0.0018	0.0019	0	0.058	0.44358	T	0.399	0.15109	T	.	.	.	.	.	.	0.273270	0.15086	N	0.482787	0.999999	0.58761	D	0.805	0.20218	L	1.6	0.28604	T	-1.46	0.35792	N	0.493	0.55799	-1.0812	0.07118	T	0.103	0.38069	T	6	0.011685371	0.00254	T	0.095764	0.76486	D	0.136	0.36778	.	.	0.295974979623	0.29207	.	.	.	.	.	.	.	0.014324	0.12216	T	-0.336111	0.05662	T	-0.262841	0.48540	T	0.0103845413639	0.00142	T	0.676232	0.28483	T	0.40318388	0.60952	0.3450368	0.60192	0.40318388	0.60953	0.3450368	0.60192	-6.099	0.47100	T	.	.	0.613	0.69415	P	.;.;.	.;.;.	4.758664	0.76912	26.6	0.99504740210213904	0.68264	0.90501	0.51730	D	AEFDGBHCI	0.190171	0.31740	N	-0.0534079137111613	0.39450	2.326612	-0.0755109215414664	0.36406	2.118246	0.999999994502492	0.74766	0.59774	0.34471	0	0.627178	0.54094	0	0.666236	0.60216	0	0.63947	0.58350	0	.	.	4.58	4.58	0.56077	2.376000	0.43947	6.130000	0.53904	0.665000	0.62972	0.986000	0.36153	1.000000	0.68203	0.891000	0.42908	0.0:0.0:0.0:1.0	10.648	0.44825	337	0.86119	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	792.63	61	chr15	67826673	.	T	G	792.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.54;DP=247;ExcessHet=0;FS=2.267;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.968;SOR=1.022	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1221	6	0	1	0
chr15	67827953	67827953	G	A	exonic	SKOR1	.	nonsynonymous SNV	SKOR1:NM_001365915:exon2:c.G2125A:p.A709T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0114133402467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.415e-06	2.189e-05	1.4e-06	1.431e-06	2.658e-05	2.4e-07	9e-08	.	.	0	0	0	2.658e-05	0	0	9.177e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.574	0.08900	T	.	.	.	.	.	.	0.710725	0.06256	N	1.146860	1	0.08975	N	-0.695	0.01866	N	2.47	0.14783	T	0.65	0.02332	N	0.081	0.10483	-0.9307	0.44036	T	0.018	0.07706	T	10	0.031106621	0.01242	T	0.011413	0.29007	T	0.047	0.12962	.	.	0.0297737177859	0.01360	.	.	.	.	.	.	.	0.002621	0.02014	T	-0.377858	0.03214	T	-0.780543	0.02437	T	0.0894793325274868	0.11156	T	0.482252	0.14651	T	0.040252447	0.05713	0.10192662	0.24414	0.040252447	0.05712	0.10192662	0.24414	-5.349	0.40425	T	.	.	0.080	0.07745	B	.;.;.	.;.;.	-0.117810	0.03536	0.676	0.95146853355366889	0.26275	0.11952	0.16966	N	AEFDBHCI	.	.	.	-1.52135890367703	0.01709	0.07482506	-1.50747648468279	0.02286	0.1049032	0.999992124345156	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	5.26	-4.27	0.03486	-0.363000	0.07645	0.570000	0.19597	-0.247000	0.07223	0.000000	0.06391	0.001000	0.17328	0.020000	0.11549	0.11:0.1151:0.7749:0.0	14.281	0.65762	343	0.85802	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	43	chr15	67827953	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,103,1002	6	1	0	0
chr15	69423285	69423285	A	G	exonic	KIF23	.	nonsynonymous SNV	KIF23:NM_001281301:exon6:c.A360G:p.I120M,KIF23:NM_001367804:exon7:c.A690G:p.I230M,KIF23:NM_001367805:exon7:c.A690G:p.I230M,KIF23:NM_004856:exon7:c.A690G:p.I230M,KIF23:NM_138555:exon7:c.A690G:p.I230M	.	440	1074	8	0	0	8	0.00371058	.	.	.	739755	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.543	0.0566998144182	0.0002	0.00179712	0.0011	0	0.0002	0	0	0.0004	0	0.0061	0.0008991	139	154602	rs199679829	0.0006	0.0006	0.0004	0.0008	0.0064	0.0006	0.0005	0.0059	0.0057	3.125e-05	0.0002	3.884e-05	0	0	0.0023	0.0003	0.0006	0.0064	0.0005	0.0005	0.0003	0.0006	0.0079	0.0004	0.0003	0.0059	0.0052	0.0001	0	0.0004	0	0	0	0.0034	0.0003	0	0.0079	0.002	0.72154	D	0.003	0.76473	D	0.848	0.55278	P	0.746	0.55899	P	0.000000	0.84330	D	0.043187	0.999592	0.47742	D	2.215	0.62545	M	-1.25	0.79072	T	-2.41	0.52938	N	0.854	0.86833	-0.3344	0.74006	T	0.429	0.77127	T	10	0.010502368	0.00233	T	0.057	0.66701	D	0.543	0.80960	.	.	0.917344175841	0.91651	0.5821520425212087	0.58144	0.827125518207	0.67455	0.700353622437	0.67194	T	0.664389	0.89966	D	-0.0924354	0.37675	T	0.0970584	0.76713	D	0.180450450184777	0.19263	T	0.978502	0.92407	D	0.7315655	0.79812	0.6390473	0.78917	0.79989463	0.83900	0.71347857	0.83094	-8.192	0.63431	D	0.6245643271954806	0.69329	0.503	0.67522	A	.;.;.;.;.	.;.;.;.;.	2.560751	0.33167	19.26	0.98387140358111247	0.40915	0.80771	0.40325	D	AEFBI	0.191481	0.31868	N	-0.387665886520299	0.25908	1.409931	-0.522864905616879	0.21533	1.165317	0.999924423205309	0.46280	0.732398	0.92422	0	0.743671	0.97443	0	0.670488	0.60580	0	0.727631	0.95156	0	.	.	5.53	-3.9	0.03904	0.228000	0.17594	1.567000	0.27393	-0.095000	0.16041	0.963000	0.33788	0.999000	0.35428	0.984000	0.60418	0.203:0.5212:0.0696:0.2062	5.243	0.14801	841	0.37094	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;.;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.08333	1385.27	35	chr15	69423285	.	A	G	1385.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.18;DP=285;ExcessHet=0;FS=0.807;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=1.73;SOR=0.871	GT:AD:DP:GQ:PL	0/1:40,52:92:99:1395,0,877	5	0	1	1
chr15	70892204	70892204	A	-	exonic	THAP10	.	frameshift deletion	THAP10:NM_020147:exon1:c.69delT:p.K25Rfs*55	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.146e-05	0	0.0002	0	0	0	0.0021	0	1.29e-05	2	154602	rs745404163	3.097e-05	3.078e-05	1.094e-05	5.125e-05	0.0005	2.361e-05	2.107e-05	0.0004	0.0003	0	0	0	0	0	0	1.805e-06	1.666e-05	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	426.23	34	chr15	70892203	.	GA	G	426.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.37;DP=219;ExcessHet=0;FS=3.073;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-1.175;SOR=0.313	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,103,1416	5	0	1	1
chr15	72474712	72474714	GAG	-	exonic	ARIH1	.	nonframeshift deletion	ARIH1:NM_005744:exon1:c.73_75del:p.E28del	.	3	1515	4	0	0	4	0.00131839	.	.	.	1529532	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|ARIH1-related_disorder|not_provided	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0265	.	0.0075	0.0043	0.0090	0.0065	0.0072	0.0083	0.0051	0.0066	0.0001537	4	26028	rs143905502	0.0013	0.0038	0.0013	0.0013	0.0016	0.0013	0.0012	0.0012	0.0011	0.0009	0.0016	0.0079	0.0010	0.0017	0.0005	0.0011	0.0015	0.0012	0.0007	0.0008	0.0008	0.0006	0.0009	0.0006	0.0006	0.0008	0.0007	0.0002	0	6.549e-05	0.0072	0.0002	0.0008	0	0.0009	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	121.18	35	chr15	72474711	.	CGAG	C	121.18	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.753;DP=268;ExcessHet=0;FS=3.322;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.59;ReadPosRankSum=-1.056;SOR=1.085	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1010	5	0	1	1
chr15	72664983	72664983	C	T	exonic	GOLGA6B	.	nonsynonymous SNV	GOLGA6B:NM_018652:exon14:c.C1541T:p.A514V	.	468	1051	3	0	0	3	0.00142518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	0.00359425	0.0059	0	0.0007	0.0028	0	0.0003	0	0.0331	0.0006916	18	26028	rs528231856	0.0011	0.0011	0.0007	0.0014	0.0106	0.0010	0.0010	0.0099	0.0097	0	0.0003	5.597e-05	0.0023	2.839e-05	0.0003	7.216e-05	0.0008	0.0106	0.0004	0.0006	0.0002	0.0007	0.0136	0.0003	0.0003	0.0102	0.0090	6.672e-05	0	8.604e-05	0	0.0007	0	0	0.0001	0	0.0136	0.184	0.21634	T	0.307	0.19908	T	0.036	0.20732	B	0.024	0.20255	B	.	.	.	.	1	0.08975	N	0.925	0.23481	L	2.08	0.20255	T	-2.06	0.47175	N	0.081	0.05670	-0.9580	0.39552	T	0.019	0.07846	T	9	0.0042435527	0.00085	T	.	.	.	0.030	0.07022	.	.	0.0138822411134	0.00435	0.08582024674223458	0.08516	.	.	0.45127761364	0.32119	T	0.005077	0.04516	T	-0.321395	0.06785	T	-0.699438	0.05856	T	0.0287854505810516	0.01804	T	0.666933	0.27600	T	0.03130684	0.02947	0.04360336	0.05463	0.03130684	0.02947	0.04360336	0.05462	-3.979	0.23488	T	.	.	0.078	0.06756	B	.	.	0.404312	0.07755	4.438	0.93541448556425477	0.23368	0.00462	0.02227	N	AEFI	0.024620	0.01553	N	-1.32456514760814	0.03396	0.1516278	-1.38378988074006	0.03424	0.1596962	8.37626663713028E-5	0.04703	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.39	0.39	0.15500	0.159000	0.16258	-1.960000	0.04430	-2.152000	0.00373	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6078:0.0:0.3922	2.884	0.05308	431	0.80762	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001156	0.000000	0.000000	0.000000	0.000000	0.000000	0.003247	0.004032	0.1	258.29	4	chr15	72664983	.	C	T	258.29	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.091;DP=108;ExcessHet=0;FS=10.665;MLEAC=1;MLEAF=0.1;MQ=41.08;MQRankSum=3.67;QD=7.38;ReadPosRankSum=0.188;SOR=1.472	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1074	4	0	1	2
chr15	72775015	72775015	G	A	exonic	ADPGK	.	nonsynonymous SNV	ADPGK:NM_001365225:exon2:c.C316T:p.H106Y,ADPGK:NM_001365227:exon2:c.C316T:p.H106Y,ADPGK:NM_001365228:exon2:c.C316T:p.H106Y,ADPGK:NM_031284:exon2:c.C316T:p.H106Y	.	431	1088	3	0	0	3	0.00137678	.	.	.	3259418	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.383	0.0128883505647	.	.	8.293e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs771171646	3.489e-05	3.489e-05	3.811e-05	3.163e-05	0.0066	2.697e-05	2.438e-05	0.0049	0.0044	8.961e-05	0	0	0	0	0.0066	5.396e-06	6.623e-05	0	6.57e-05	6.563e-05	3.857e-05	9.407e-05	0.0001	3.516e-05	2.616e-05	2.261e-05	9.07e-06	2.409e-05	0	0.0001	0	0	0	0.0171	0	0.0009	0	0.002	0.72154	D	0.065	0.44702	T	1.0	0.90584	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.36	0.67893	M	0.9	0.45248	T	-4.05	0.74504	D	0.831	0.82660	-0.7480	0.58040	T	0.261	0.63186	T	10	0.8906876	0.88410	D	0.012888	0.31852	T	0.383	0.70029	0.716	0.85141	0.837703744324	0.83615	0.8661617535242074	0.86581	0.923789402287	0.71561	0.582443356514	0.50429	T	.	.	.	0.104863	0.64814	D	-0.0871474	0.64376	T	0.979736745357513	0.72985	D	0.927707	0.73352	D	.	.	.	.	.	.	.	.	-6.761	0.52268	T	.	.	0.134	0.29088	B	.	.	4.837287	0.78940	27.0	0.99845148310267029	0.92489	0.98194	0.80421	D	AEFDGBHCI	0.901308	0.84785	D	0.820679222066565	0.87382	9.198425	0.810808147297734	0.90534	10.45165	1.0	0.98316	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	9.821000	0.98294	11.705000	0.94560	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	20.089	0.97808	401	0.82673	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.005051	0.008152	0.005848	0.000000	0.034483	0.000000	0.000000	0.07143	706.45	35	chr15	72775015	.	G	A	706.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.132;DP=266;ExcessHet=0;FS=1.004;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=-0.08;SOR=0.869	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	6	0	1	0
chr15	74074956	74074956	T	C	exonic	GOLGA6A	.	nonsynonymous SNV	GOLGA6A:NM_001038640:exon11:c.A893G:p.E298G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.0057	0	0	0.0361	0	0	0	0.0251	0.0002652	41	154602	rs767990206	0.0002	0.0003	0.0002	0.0002	0.0044	0.0002	0.0002	0.0039	0.0036	3.921e-05	0	3.832e-05	0.0044	0	0	1.981e-05	0.0002	0.0009	0.0002	0.0003	9.18e-05	0.0003	0.0032	0.0001	0.0001	0.0020	0.0016	0	0	0	0	0.0032	0	0	1.527e-05	0	0.0021	0.005	0.63226	D	0.004	0.74150	D	0.267	0.31683	B	0.224	0.37970	B	.	.	.	.	0.998897	0.21818	N	2.895	0.83812	M	1.23	0.36872	T	-2.39	0.52612	N	0.303	0.34228	-0.9326	0.43755	T	0.114	0.40605	T	9	0.0070073903	0.00159	T	.	.	.	0.055	0.15663	.	.	0.0762999501168	0.06990	0.34916383518131894	0.34830	3.3059382823	0.99581	0.789822995663	0.80416	T	0.210092	0.57049	T	-0.572363	0.00214	T	-0.592047	0.13489	T	0.065203368688336	0.07961	T	0.70353	0.31362	T	0.13106877	0.30564	0.15376893	0.36119	0.13106877	0.30564	0.15376893	0.36119	-5.117	0.38086	T	.	.	0.117	0.23675	B	.	.	2.234191	0.28527	17.82	0.98111692563574959	0.38359	0.03154	0.08119	N	AEFI	0.050894	0.08939	N	-0.680181016189845	0.16588	0.8464376	-0.856465385840058	0.13132	0.6795764	7.71173368094658E-4	0.07793	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.51	1.51	0.22094	1.046000	0.29964	5.942000	0.51497	0.238000	0.18221	0.315000	0.25459	0.998000	0.33993	0.009000	0.08673	0.0:0.0:0.0:1.0	7.195	0.25026	829	0.39537	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	322.63	21	chr15	74074956	.	T	C	322.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.3;DP=162;ExcessHet=0;FS=1.298;MLEAC=1;MLEAF=0.071;MQ=34.19;MQRankSum=1.08;QD=7.87;ReadPosRankSum=-2.352;SOR=0.404	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1116	6	0	1	0
chr15	74181318	74181318	G	A	exonic	STRA6	.	nonsynonymous SNV	STRA6:NM_001142617:exon17:c.C1661T:p.P554L,STRA6:NM_001142618:exon17:c.C1661T:p.P554L,STRA6:NM_001142619:exon17:c.C1634T:p.P545L,STRA6:NM_001199040:exon17:c.C1772T:p.P591L,STRA6:NM_001199041:exon17:c.C1706T:p.P569L,STRA6:NM_001199042:exon17:c.C1778T:p.P593L,STRA6:NM_022369:exon17:c.C1661T:p.P554L	Microphthalmia, isolated, with coloboma 8, Autosomal recessive;Microphthalmia, syndromic 9, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	2671577	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.121	0.0365947967064	.	.	3.485e-05	0	0.0003	0.0001	0	0	0	0	2.59e-05	4	154602	rs759887263	3.083e-05	3.078e-05	3.953e-05	2.204e-05	0.0002	2.35e-05	2.098e-05	0.0001	9.208e-05	0	0.0002	0	2.522e-05	0	0	2.159e-05	0.0001	2.323e-05	4.605e-05	4.597e-05	6.428e-05	2.695e-05	0.0003	2.112e-05	1.528e-05	8.883e-05	5.39e-05	0	0	0.0003	0	0	0	0	4.414e-05	0	0	0.36	0.13131	T	0.283	0.22154	T	0.017	0.20130	B	0.003	0.10090	B	0.009835	0.30183	N	0.381182	0.999999	0.08975	N	1.5	0.37844	L	-1.32	0.79761	T	-2.6	0.55983	D	0.098	0.10626	-0.9722	0.36734	T	0.189	0.54049	T	10	0.042830825	0.03071	T	0.036595	0.57092	D	0.121	0.33580	.	.	0.247322355667	0.24350	0.3501652648074907	0.34930	0.0955936571595	0.10801	0.272087872028	0.06415	T	0.242123	0.61080	T	-0.283575	0.10292	T	-0.347553	0.39485	T	0.0402615802043343	0.03738	T	0.768523	0.39806	T	0.03695256	0.04644	0.055827837	0.09864	0.03695256	0.04644	0.055827837	0.09864	-4.876	0.35464	T	.	.	0.073	0.09627	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.196037	0.15877	12.17	0.83564370307357361	0.14795	0.05836	0.11778	N	AEFGBHCI	0.124187	0.24013	N	-1.06742686864238	0.07250	0.3362193	-1.08930655257188	0.07910	0.3866862	0.999998708595598	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.72	-1.66	0.07824	0.373000	0.20215	1.167000	0.24596	-0.154000	0.11915	0.028000	0.20300	0.110000	0.22784	0.049000	0.15107	0.0877:0.2059:0.1934:0.513	3.517	0.07288	808	0.43318	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	3930.31	38	chr15	74181318	.	G	A	3930.31	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.794;DP=325;ExcessHet=0;FS=2.437;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=22.33;ReadPosRankSum=-0.359;SOR=0.964	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1267	4	1	1	1
chr15	74848655	74848655	A	-	exonic	SCAMP2	.	frameshift deletion	SCAMP2:NM_005697:exon7:c.679delT:p.C227Vfs*3,SCAMP2:NM_001320778:exon8:c.808delT:p.C270Vfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	30.4	34	chr15	74848654	.	CA	C	30.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.34;ReadPosRankSum=1.07;SOR=0.446	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1107	6	0	1	0
chr15	75264022	75264022	G	A	exonic	GOLGA6C	.	nonsynonymous SNV	GOLGA6C:NM_001164404:exon7:c.G503A:p.R168H	.	431	1086	4	1	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.014645287641	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1216069749	0.0004	0.0014	0.0004	0.0005	0.0030	0.0004	0.0004	0.0025	0.0024	0.0002	6.724e-05	7.662e-05	0.0030	0.0002	0.0006	0.0003	0.0005	0.0019	0.0010	0.0018	0.0010	0.0011	0.0092	0.0009	0.0008	0.0071	0.0063	0.0004	0	0.0003	0	0.0092	0.0005	0	0.0009	0.0005	0.0037	0.047	0.40319	D	0.097	0.39190	T	0.997	0.70673	D	0.923	0.65830	D	.	.	.	.	0.682334	0.33246	D	2.535	0.73915	M	1.3	0.35590	T	-2.95	0.61580	D	0.205	0.22742	-0.7653	0.57115	T	0.157	0.48858	T	8	0.27332008	0.44880	T	0.014645	0.34905	T	0.078	0.22779	0.238	0.16912	0.104622674875	0.10061	0.5149210535513391	0.51415	3.37465409467	0.99679	0.824827253819	0.85770	D	0.144426	0.48104	T	-0.23745	0.15675	T	-0.578857	0.14648	T	0.891521096229553	0.54249	D	0.773423	0.40508	T	0.053371593	0.10091	0.05792827	0.10618	0.053371593	0.10091	0.05792827	0.10618	-7.426	0.57088	T	.	.	0.093	0.13923	B	.	.	2.403721	0.30884	18.57	0.9968802658927195	0.79708	0.36481	0.25543	N	AEFI	0.172370	0.29940	N	-0.14908096913132	0.35274	2.023987	-0.431758186624478	0.24071	1.316103	3.46704561621738E-4	0.06626	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	2.737000	0.47066	5.764000	0.49701	-1.057000	0.01625	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	6.0E-4:0.0:0.9994:0.0	5.950	0.18479	509	0.75304	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	218.73	34	chr15	75264022	.	G	A	218.73	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.65;DP=200;ExcessHet=0;FS=10;MLEAC=1;MLEAF=0.071;MQ=24;MQRankSum=0;QD=21.87;ReadPosRankSum=0.674;SOR=4.608	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1390	6	1	0	0
chr15	75289625	75289625	C	G	exonic	GOLGA6D	.	nonsynonymous SNV	GOLGA6D:NM_001145224:exon9:c.C685G:p.R229G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0192123580274	.	.	.	.	.	.	.	.	.	.	.	.	.	rs547963770	3.649e-05	2.663e-05	3.525e-05	3.762e-05	0.0004	2.537e-05	2.156e-05	2.469e-05	1.783e-05	0	9.318e-05	0	0	0	0.0004	3.584e-05	5.637e-05	4.593e-05	2.636e-05	5.037e-05	2.47e-05	2.826e-05	5.127e-05	4.38e-06	1.64e-06	8.49e-06	3.18e-06	0	0	0	0	0	0	0	5.127e-05	0	0	0.006	0.61437	D	0.006	0.70582	D	0.999	0.77913	D	0.977	0.73820	D	.	.	.	.	0.890326	0.27893	N	3.02	0.86243	M	1.15	0.38236	T	-5.22	0.83830	D	0.45	0.48780	-0.8457	0.52263	T	0.214	0.57586	T	9	0.21962628	0.38637	T	0.019212	0.41510	T	0.166	0.42578	0.308	0.27967	0.141422826196	0.13715	0.6557014712945679	0.65506	2.28829426399	0.96376	0.705330729485	0.67916	T	0.262697	0.63431	T	-0.081265	0.39510	T	-0.354508	0.38687	T	0.91190493106842	0.56762	D	0.935906	0.76420	D	0.19932139	0.41868	0.22355676	0.47239	0.19932139	0.41867	0.22355676	0.47238	-10.018	0.74020	D	.	.	0.276	0.50925	B	.;.	.;.	2.144177	0.27310	17.42	0.9232189427437415	0.21716	0.34408	0.25060	N	AEFI	0.155553	0.28077	N	-0.34596804681563	0.27421	1.504285	-0.578136394763033	0.20064	1.079303	3.84908076355646E-4	0.06781	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.28	2.28	0.27583	0.856000	0.27473	2.239000	0.31595	-2.461000	0.00277	0.993000	0.37899	0.802000	0.26959	0.000000	0.00833	0.5314:0.4686:0.0:0.0	6.901	0.23461	508	0.75398	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	262.47	.	chr15	75289625	.	C	G	262.47	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.59;DP=105;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=27.39;MQRankSum=0.969;QD=10.94;ReadPosRankSum=0.464;SOR=0.551	GT:AD:DP:GQ:PL	0/1:13,11:24:99:272,0,310	5	0	1	1
chr15	75339279	75339279	T	C	exonic	COMMD4	.	nonsynonymous SNV	COMMD4:NM_001321845:exon4:c.T179C:p.L60P,COMMD4:NM_001284379:exon5:c.T335C:p.L112P,COMMD4:NM_001321846:exon5:c.T251C:p.L84P,COMMD4:NM_001321847:exon5:c.T251C:p.L84P,COMMD4:NM_001321848:exon5:c.T335C:p.L112P,COMMD4:NM_001284377:exon6:c.T317C:p.L106P,COMMD4:NM_001321844:exon6:c.T245C:p.L82P,COMMD4:NM_017828:exon6:c.T317C:p.L106P	.	438	1079	5	0	0	5	0.0023116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.442	0.115208052658	0.0002	.	0.0003	0	8.814e-05	0.0001	0	0.0004	0	0.0004	0.0002523	39	154602	rs373430411	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	0	2.236e-05	7.652e-05	0.0003	1.872e-05	0.0007	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	0.0004	9.147e-05	7.702e-05	0.0001	7.893e-05	7.236e-05	0	0.0001	0	0.0004	0	0	0.0002	0	0.0004	0.04	0.47745	D	0.029	0.54541	D	0.974	0.57829	D	0.79	0.57710	P	0.000002	0.62929	D	0.000000	1	0.81001	D	2.78	0.81115	M	2.39	0.15724	T	-5.76	0.89029	D	0.962	0.98368	-0.8622	0.51104	T	0.116	0.41053	T	10	0.5248448	0.62850	D	0.115208	0.79431	D	0.442	0.74518	.	.	0.353548585375	0.34966	0.8422590522724507	0.84185	0.893908206387	0.70341	0.838452219963	0.87859	D	0.267569	0.73634	T	-0.0374893	0.46321	T	0.038374	0.72822	D	0.509023070335388	0.32961	D	0.70183	0.31596	T	0.8946847	0.90913	0.8529498	0.91702	0.8946847	0.90915	0.8529498	0.91703	-14.724	0.95172	D	.	.	0.938	0.90412	P	.;.;.;.;.;.	.;.;.;.;.;.	5.128608	0.85820	28.7	0.99731357588547054	0.82761	0.98393	0.82318	D	AEFBI	0.963467	0.98537	D	0.439748457118002	0.63623	4.599751	0.432991274372709	0.63633	4.600886	0.999997378540869	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.58	4.58	0.56077	3.699000	0.54511	7.817000	0.69620	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.695000	0.33988	0.0:0.0:0.0:1.0	13.466	0.60705	499	0.76092	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	116.49	67	chr15	75339279	.	T	C	116.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.912;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.74;MQRankSum=-8.088;QD=1.74;ReadPosRankSum=3.67;SOR=0.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1162:.	6	0	1	0
chr15	75339284	75339284	C	T	exonic	COMMD4	.	nonsynonymous SNV	COMMD4:NM_001321845:exon4:c.C184T:p.R62C,COMMD4:NM_001284379:exon5:c.C340T:p.R114C,COMMD4:NM_001321846:exon5:c.C256T:p.R86C,COMMD4:NM_001321847:exon5:c.C256T:p.R86C,COMMD4:NM_001321848:exon5:c.C340T:p.R114C,COMMD4:NM_001284377:exon6:c.C322T:p.R108C,COMMD4:NM_001321844:exon6:c.C250T:p.R84C,COMMD4:NM_017828:exon6:c.C322T:p.R108C	.	440	1076	6	0	0	6	0.00278035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.167782209255	0.0002	.	0.0001	0	0.0002	0.0002	0	9.21e-05	0	0.0001	8.41e-05	13	154602	rs377428086	0.0001	0.0002	0.0001	0.0001	0.0005	0.0001	0.0001	0.0001	0.0001	2.993e-05	8.946e-05	0	0.0002	1.872e-05	0.0005	0.0001	9.968e-05	0.0001	0.0002	0.0003	0.0002	0.0002	0.0029	0.0002	0.0002	0.0018	0.0014	0.0002	0	0.0003	0	0.0029	0	0	0.0001	0	0.0004	0.069	0.45756	T	0.033	0.53426	D	0.371	0.34093	B	0.175	0.35598	B	0.000002	0.62929	D	0.059165	1	0.81001	D	2.76	0.80626	M	2.8	0.11082	T	-6.1	0.90371	D	0.647	0.72388	-1.0919	0.05223	T	0.047	0.20275	T	10	0.29890493	0.47445	T	0.167782	0.84605	D	0.160	0.41473	.	.	0.323886383625	0.31992	0.43562391172678777	0.43479	0.500387696712	0.48461	0.794249176979	0.81088	T	0.146129	0.48698	T	-0.150871	0.28174	T	-0.190064	0.55584	T	0.573064088821411	0.35352	D	0.90351	0.66162	D	0.26001346	0.49056	0.31395358	0.57390	0.26001346	0.49056	0.31395358	0.57389	-8.178	0.62276	D	.	.	0.165	0.49807	B	.;.;.;.;.;.	.;.;.;.;.;.	4.863446	0.79612	27.1	0.99731738107172074	0.82833	0.94955	0.62914	D	AEFBI	0.597564	0.59130	D	0.174525288898486	0.49979	3.192424	0.24819373268159	0.52548	3.42883	0.99940722412738	0.39524	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.58	4.58	0.56077	2.632000	0.46177	5.916000	0.51093	-0.183000	0.09960	1.000000	0.71638	1.000000	0.68203	0.707000	0.34357	0.0:1.0:0.0:0.0	16.78	0.85423	499	0.76092	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	131.49	62	chr15	75339284	.	C	T	131.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.701;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.52;MQRankSum=-7.771;QD=2.12;ReadPosRankSum=3.29;SOR=0.56	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1162:.	6	0	1	0
chr15	75649878	75649878	C	G	exonic	SNX33	.	nonsynonymous SNV	SNX33:NM_001318146:exon1:c.C776G:p.A259G,SNX33:NM_153271:exon1:c.C776G:p.A259G	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.0107162718075	0.0025	0.000798722	0.0033	0.0003	0.0006	0	0.0036	0.0049	0.0038	0.0011	0.0029042	449	154602	rs148170720	0.0037	0.0036	0.0038	0.0036	0.0043	0.0036	0.0036	0.0042	0.0041	0.0006	0.0009	4.72e-05	0	0.0053	0.0007	0.0043	0.0025	0.0009	0.0023	0.0023	0.0025	0.0021	0.0034	0.0021	0.0020	0.0031	0.0029	0.0008	0	0.0014	0	0	0.0049	0	0.0034	0.0038	0.0006	0.0	0.91255	D	0.004	0.74150	D	0.001	0.07471	B	0.04	0.23831	B	0.011947	0.29343	N	0.380726	0.946544	0.26627	N	-0.435	0.02851	N	1.28	0.35960	T	-1.73	0.41046	N	0.109	0.09490	-1.0580	0.12260	T	0.043	0.18535	T	10	0.0042622983	0.00085	T	0.010716	0.27578	T	0.026	0.05648	.	.	0.345175991111	0.34120	0.42126175560914203	0.42042	0.433213654183	0.43486	0.418732404709	0.27662	T	0.065323	0.32660	T	-0.50172	0.00559	T	-0.492234	0.23157	T	0.0701625015876535	0.08674	T	0.863414	0.55914	D	0.488129	0.66391	0.3581808	0.61299	0.488129	0.66392	0.3581808	0.61298	-5.371	0.40640	T	.	.	0.086	0.10787	B	.	.	3.089410	0.41597	21.4	0.87255900175937784	0.17098	0.79874	0.39668	D	AEFDGBCI	0.294725	0.40502	N	-0.464022824705207	0.23266	1.248237	-0.328545446577718	0.27181	1.506453	0.999997756452957	0.74766	0.706548	0.73137	0	0.610034	0.51514	0	0.662677	0.59975	0	0.714379	0.83352	0	.	.	5.42	3.17	0.35510	2.037000	0.40795	2.688000	0.34067	0.597000	0.34315	0.939000	0.32602	0.994000	0.32194	0.804000	0.37906	0.0:0.6081:0.1632:0.2286	5.592	0.16589	183	0.92871	Phox homologous domain|Phox homologous domain|Phox homologous domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	3607.44	36	chr15	75649878	.	C	G	3607.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.328;DP=572;ExcessHet=0;FS=8.482;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-1.978;SOR=0.892	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1046	6	0	1	0
chr15	75688222	75688222	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G2843A:p.R948H	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00866160201881	7.7e-05	0.000399361	0.0003	0.0003	8.669e-05	0	0.0017	0.0002	0.0011	0.0001	0.0002305	6	26028	rs143336068	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	8.963e-05	2.236e-05	3.827e-05	0	0.0013	0	8.634e-05	6.626e-05	0.0003	0.0003	0.0003	0.0003	0.0004	0.0010	0.0003	0.0002	0.0004	0.0003	7.212e-05	0	0	0.0003	0	0.0022	0.0034	0.0002	0.0005	0.0010	0.136	0.26085	T	0.06	0.45744	T	0.909	0.50183	P	0.306	0.41250	B	0.272202	0.15106	N	0.622737	0.999999	0.08975	N	1.245	0.31408	L	1.42	0.33189	T	-1.38	0.34198	N	0.174	0.18649	-1.0703	0.09348	T	0.041	0.17530	T	10	0.009926319	0.00223	T	0.008662	0.22878	T	0.029	0.06676	.	.	0.264081493735	0.26024	0.33849989036879463	0.33762	0.415926434887	0.42235	0.240603357553	0.02845	T	0.143437	0.47955	T	-0.447195	0.01173	T	-0.575593	0.14941	T	0.0106415769130787	0.00149	T	0.708429	0.31914	T	0.030648287	0.02764	0.026899846	0.00806	0.030648287	0.02763	0.026899846	0.00806	-5.749	0.44128	T	.	.	0.073	0.04847	B	.	.	0.724549	0.10936	7.604	0.98488056177300454	0.42061	0.05475	0.11357	N	AEFGBI	0.111209	0.22026	N	-0.61090213798014	0.18617	0.9679196	-0.753613483266435	0.15633	0.8231983	0.929035875804008	0.26952	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.63947	0.58350	0	.	.	5.02	0.967	0.18792	0.037000	0.13728	-1.853000	0.04608	-1.028000	0.01704	0.003000	0.16062	0.000000	0.08366	0.167000	0.20881	0.0:0.559:0.1315:0.3095	6.302	0.20323	162	0.93704	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000508	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.1429	3255.24	104	chr15	75688222	.	C	T	3255.24	.	AC=2;AF=0.143;AN=14;DP=439;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=59.31;QD=31.3;SOR=0.693	GT:AD:DP:GQ:PL	0/0:80,0:80:99:0,120,1800	6	1	0	0
chr15	75690325	75690325	C	A	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G740T:p.R247L	.	242	1239	41	0	0	41	0.0162763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	.	.	.	0.0072	0.0221	0.0051	0.0002	0.0016	0.0082	0.0106	0.0026	4.53e-05	7	154602	rs150241616	0.0023	0.0075	0.0022	0.0023	0.0104	0.0022	0.0022	0.0083	0.0075	0.0076	0.0012	0.0014	0	0.0013	0.0104	0.0024	0.0019	0.0007	0.0003	0.0038	0.0003	0.0004	0.0006	0.0003	0.0002	0.0004	0.0004	0.0006	0	0.0003	0	0	9.443e-05	0.0035	0.0003	0.0010	0	0.027	0.46513	D	0.073	0.43159	T	0.579	0.38789	P	0.155	0.34417	B	0.963717	0.07733	N	1.017680	0.999987	0.18198	N	1.59	0.40313	L	-1.15	0.77964	T	-2.52	0.54702	D	0.26	0.29429	-0.8451	0.52304	T	0.136	0.45164	T	10	0.0137501955	0.00291	T	.	.	.	0.336	0.65816	.	.	0.456089687795	0.45231	0.5956843285600265	0.59498	0.526958073932	0.50312	0.209487393498	0.00790	T	0.353228	0.72055	T	-0.0896309	0.38139	T	-0.366525	0.37296	T	0.0229721219108999	0.01020	T	0.69823	0.30825	T	0.0856866	0.19887	0.17583492	0.40076	0.0856866	0.19887	0.17583492	0.40075	-4.458	0.30335	T	.	.	0.087	0.11414	B	.	.	0.218507	0.06011	2.453	0.95054651626861075	0.26075	0.16596	0.19462	N	AEFBI	0.241601	0.36319	N	-1.19395214962389	0.05091	0.2312774	-1.31445633219564	0.04242	0.1997009	0.999317597206819	0.39113	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.21	-7.51	0.01203	0.200000	0.17055	-6.465000	0.01391	-1.914000	0.00512	0.003000	0.16062	0.000000	0.08366	0.346000	0.25568	0.0:0.1131:0.1092:0.7777	12.053	0.52813	162	0.93704	Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.024083	0.013889	0.035616	0.021739	0.000000	0.017241	0.014493	0.008065	0.07143	778.83	60	chr15	75690325	.	C	A	778.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=47.2;MQRankSum=-5.072;QD=12.98;ReadPosRankSum=1.74;SOR=0.866	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	6	0	1	0
chr15	76775055	76775055	T	C	exonic	SCAPER	.	nonsynonymous SNV	SCAPER:NM_001145923:exon9:c.A97G:p.T33A,SCAPER:NM_020843:exon9:c.A835G:p.T279A,SCAPER:NM_001353009:exon10:c.A835G:p.T279A,SCAPER:NM_001353010:exon10:c.A433G:p.T145A,SCAPER:NM_001353011:exon10:c.A433G:p.T145A,SCAPER:NM_001353012:exon10:c.A433G:p.T145A	.	11	1502	9	0	0	9	0.00298706	.	.	.	703347	Inborn_genetic_diseases|not_provided|SCAPER-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.00216633149002	0.0010	0.000998403	0.0018	0.0002	0.0022	0	0.0005	0.0024	0.0078	0.0009	0.0016106	249	154602	rs142461932	0.0015	0.0015	0.0015	0.0016	0.0029	0.0015	0.0015	0.0020	0.0018	0.0002	0.0023	0.0008	0	0.0002	0.0029	0.0017	0.0021	0.0011	0.0012	0.0012	0.0011	0.0013	0.0020	0.0010	0.0010	0.0015	0.0015	0.0002	0	0.0020	0.0009	0	9.414e-05	0	0.0018	0.0024	0.0010	0.194	0.29288	T	0.876	0.03259	T	.	.	.	.	.	.	0.008470	0.30825	N	0.393724	0.999927	0.20203	N	0.955	0.23872	L	2.02	0.21119	T	-0.81	0.58085	N	0.137	0.13484	-1.0196	0.23845	T	0.037	0.16116	T	10	0.0055835843	0.00123	T	0.002166	0.04043	T	0.009	0.00846	.	.	0.183819452728	0.17975	0.13573579862759524	0.13497	0.265220192054	0.29077	0.257136881351	0.04556	T	0.005255	0.06335	T	-0.563665	0.00241	T	-0.578437	0.14684	T	0.00344823356435422	0.00036	T	0.642236	0.25428	T	0.055332296	0.10739	0.036990393	0.03257	0.06158322	0.12769	0.04553618	0.06147	-3.407	0.15150	T	.	.	0.058	0.09045	B	.;.;.;.;.;.	.;.;.;.;.;.	0.968118	0.13449	9.959	0.84320016651281093	0.15223	0.69562	0.34237	D	AEFBI	0.099998	0.20116	N	-0.388089689049154	0.25892	1.408984	-0.277658732681704	0.28836	1.610878	0.0852716705173798	0.15977	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	5.76	2.17	0.26736	0.989000	0.29229	1.413000	0.26297	0.665000	0.62972	0.951000	0.33123	0.915000	0.28207	0.928000	0.46473	0.1396:0.2424:0.0:0.618	4.136	0.09638	262	0.89730	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006546	0.010101	0.006793	0.002924	0.000000	0.000000	0.009146	0.000000	0.07143	771.44	35	chr15	76775055	.	T	C	771.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.721;DP=242;ExcessHet=0;FS=1.147;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=0.542;SOR=0.437	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1139	6	0	1	0
chr15	76941635	76941635	A	G	splicing	RCN2	NM_001271837:exon4:c.448-2A>G	.	.	.	.	.	.	.	.	.	.	0.0003	0.004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0033	0.0011	0	0	0.0025	0.0015	0	0.0054	0.0005821	90	154602	rs202241868	0.0023	0.0023	0.0022	0.0024	0.0044	0.0022	0.0022	0.0039	0.0038	0.0003	0.0012	4.243e-05	0	0.0017	0.0021	0.0024	0.0021	0.0044	0.0015	0.0015	0.0016	0.0014	0.0027	0.0013	0.0013	0.0021	0.0020	0.0004	0	0.0014	0	0	0.0009	0	0.0024	0.0019	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99972	0.28526	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.565199	0.00236	T	-0.58383	0.14203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.983028	0.13607	10.14	0.85218027709295974	0.15757	0.05748	0.11676	N	AEFGBCI	.	.	.	-0.417964193557242	0.24839	1.344085	-0.516406543556189	0.21708	1.175592	0.090812007274861	0.16119	0.078448	0.01964	0	0.090787	0.02525	0	0.083675	0.02720	0	0.109439	0.03173	0	0.161255	0.28192	4.79	1.18	0.20058	0.576000	0.23446	-0.954000	0.06803	0.691000	0.84096	0.029000	0.20367	0.000000	0.08366	0.895000	0.43227	0.3864:0.0:0.1123:0.5013	3.724	0.07997	294	0.88270	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	55.49	19	chr15	76941635	.	A	G	55.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.248;DP=169;ExcessHet=0;FS=2.398;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.04;ReadPosRankSum=1.92;SOR=0.223	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,979	6	0	1	0
chr15	78274284	78274284	G	C	exonic	DNAJA4	.	nonsynonymous SNV	DNAJA4:NM_001130182:exon4:c.G506C:p.G169A,DNAJA4:NM_001130183:exon4:c.G425C:p.G142A,DNAJA4:NM_018602:exon5:c.G593C:p.G198A	.	422	1088	12	0	0	12	0.00548446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.685	.	0.0002	0.00519169	0.0025	0.0002	8.678e-05	0.0001	0	0.0002	0.0022	0.0170	0.0021345	330	154602	rs149661275	0.0012	0.0012	0.0007	0.0017	0.0170	0.0011	0.0011	0.0163	0.0160	8.961e-05	0.0003	0.0001	5.038e-05	0	0.0033	0.0001	0.0014	0.0170	0.0008	0.0008	0.0005	0.0012	0.0201	0.0007	0.0007	0.0169	0.0157	9.623e-05	0	0.0005	0.0003	0.0006	0	0.0034	0.0002	0.0009	0.0201	0.001	0.78490	D	0.022	0.83351	D	0.999	0.77913	D	0.919	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.58	0.93551	H	-0.16	0.69657	T	-5.51	0.86527	D	0.808	0.82862	0.569	0.91487	D	0.661	0.88235	D	10	0.014220059	0.00299	T	.	.	.	0.685	0.88490	.	.	0.921348960271	0.92055	0.5592713310500774	0.55854	0.944348631935	0.72353	0.623005867004	0.56154	T	0.168107	0.51499	T	-0.00535027	0.50913	T	0.232512	0.84791	D	0.178344698035607	0.19130	T	0.983602	0.94423	D	0.8629819	0.88313	0.82959324	0.90158	0.8629819	0.88315	0.82959324	0.90159	-9.519	0.73202	D	.	.	0.659	0.71281	P	.;.;.;.	.;.;.;.	5.040104	0.83879	28.2	0.99853672934908155	0.93279	0.99387	0.95371	D	AEFDBI	0.939978	0.94130	D	1.133867259664	0.98714	19.12637	1.06288667865194	0.99516	23.37584	1.0	0.98316	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	9.790000	0.98212	11.653000	0.93904	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	19.287	0.94064	744	0.52588	.;Heat shock protein DnaJ, cysteine-rich domain|Chaperone DnaJ, C-terminal|Heat shock protein DnaJ, cysteine-rich domain|Heat shock protein DnaJ, cysteine-rich domain;Heat shock protein DnaJ, cysteine-rich domain|Chaperone DnaJ, C-terminal|Heat shock protein DnaJ, cysteine-rich domain|Heat shock protein DnaJ, cysteine-rich domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.011364	0.1429	2747.63	90	chr15	78274284	.	G	C	2747.63	.	AC=2;AF=0.143;AN=14;DP=264;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.53;SOR=0.738	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1149	6	1	0	0
chr15	78617072	78617072	C	T	exonic	CHRNA3	.	nonsynonymous SNV	CHRNA3:NM_000743:exon4:c.G329A:p.R110H,CHRNA3:NM_001166694:exon4:c.G329A:p.R110H	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.572	0.0558147441227	0.0004	0.000599042	0.0003	0	8.837e-05	0	0.0003	0.0005	0	0.0002	0.0003105	48	154602	rs77574318	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0	0.0001	0.0004	0	5.629e-05	0.0003	0.0004	0.0001	8.117e-05	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	4.811e-05	0	0.0005	0.0009	0.0002	0	0	0.0004	0	0	0.308	0.14111	T	0.181	0.29346	T	0.244	0.31025	B	0.096	0.30765	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.865	0.49290	L	-1.4	0.80474	T	-4.17	0.75456	D	0.287	0.32921	-0.3234	0.74327	T	0.445	0.78179	T	10	0.11771971	0.22239	T	0.055815	0.66374	D	0.572	0.82629	.	.	0.833541382194	0.83195	0.49609173910620974	0.49530	0.343545844628	0.36281	0.363038569689	0.19828	T	0.779506	0.94166	D	0.0130387	0.53439	T	0.0971088	0.76716	D	0.364993631839752	0.27603	T	0.891911	0.63166	D	0.2779579	0.50851	0.27701715	0.53651	0.2779579	0.50851	0.27701715	0.53650	-6.613	0.51153	T	.	.	0.421	0.60746	A	.;.	.;.	3.658569	0.51965	23.2	0.99747664995849539	0.84002	0.94949	0.62892	D	AEFDBI	0.718125	0.66942	D	0.13972444198226	0.48325	3.04626	0.264681621074951	0.53489	3.517558	0.999998856513573	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.67	4.72	0.59248	4.130000	0.57720	1.051000	0.23638	0.599000	0.40250	0.999000	0.42656	0.502000	0.25210	0.909000	0.44452	0.0:0.8683:0.1316:0.0	16.358	0.83076	828	0.39726	.;Neurotransmitter-gated ion-channel ligand-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	776.44	33	chr15	78617072	.	C	T	776.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.31;DP=321;ExcessHet=0;FS=2.239;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-0.508;SOR=1.112	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1190	6	0	1	0
chr15	78764670	78764670	G	A	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon20:c.C4304T:p.P1435L	.	867	653	2	0	0	2	0.00152905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00811081495837	0.0007	0.00179712	0.0014	0.0046	0	0	0	2.771e-05	0	0.0092	0.0007438	115	154602	rs201848559	0.0004	0.0004	0.0003	0.0005	0.0042	0.0004	0.0004	0.0037	0.0036	0.0042	2.466e-05	0	0	0	0.0012	0.0001	0.0006	0.0041	0.0010	0.0010	0.0011	0.0010	0.0033	0.0009	0.0008	0.0027	0.0025	0.0031	0	0.0003	0	0	0	0	8.821e-05	0.0005	0.0033	0.312	0.13925	T	0.393	0.15355	T	0.002	0.09854	B	0.002	0.06944	B	0.540777	0.11539	N	0.785759	1	0.08975	N	0.21	0.09513	N	0.67	0.52187	T	-1.23	0.31170	N	0.047	0.01911	-1.0285	0.20940	T	0.061	0.25492	T	10	0.008200526	0.00186	T	0.008111	0.21495	T	0.024	0.04979	.	.	0.170165803431	0.16609	0.23361761247003526	0.23276	0.168445223863	0.18995	0.589950799942	0.51487	T	0.015269	0.12843	T	-0.61551	0.00117	T	-0.657434	0.08441	T	0.00425875675228196	0.00045	T	0.152885	0.01311	T	0.044275615	0.07050	0.04636494	0.06445	0.044275615	0.07050	0.04636494	0.06445	-8.294	0.63055	D	.	.	0.071	0.03773	B	.	.	0.258944	0.06375	2.841	0.85616400970196449	0.16004	0.22603	0.21802	N	AEFDBHCI	0.157153	0.28261	N	-0.974067704878724	0.09161	0.4323895	-0.9404614091418	0.11145	0.5659966	0.999999363957493	0.74766	0.712529	0.81865	0	0.588066	0.40923	0	0.635938	0.45252	0	0.613276	0.41899	0	.	.	4.47	2.54	0.29674	1.291000	0.32936	-0.080000	0.12189	-1.236000	0.01320	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.1992:0.0:0.8008:0.0	8.524	0.32454	499	0.76092	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006818	0.000000	0.012363	0.004386	0.000000	0.000000	0.003448	0.000000	0.08333	374.27	18	chr15	78764670	.	G	A	374.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.211;DP=147;ExcessHet=0;FS=1.549;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=0.118;SOR=0.965	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,765	5	0	1	1
chr15	78766976	78766976	C	T	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon19:c.G2935A:p.E979K	.	777	736	7	2	0	11	0.0074174	.	.	.	2814403	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.080	0.0137141872735	0.0061	0.00279553	0.0050	0.0013	0.0018	0	0.0028	0.0068	0.0072	0.0061	0.0046636	721	154602	rs142824118	0.0073	0.0073	0.0075	0.0072	0.0085	0.0072	0.0072	0.0083	0.0083	0.0013	0.0023	0.0046	0	0.0034	0.0062	0.0085	0.0068	0.0050	0.0048	0.0048	0.0051	0.0046	0.0077	0.0046	0.0044	0.0072	0.0070	0.0017	0.0033	0.0047	0.0037	0	0.0027	0.0170	0.0077	0.0043	0.0027	0.745	0.03642	T	0.754	0.04737	T	0.104	0.25941	B	0.08	0.28873	B	0.029572	0.25434	N	0.374249	1	0.08975	N	0.99	0.25021	L	2.23	0.18083	T	-0.93	0.24898	N	0.251	0.28381	-0.9761	0.35882	T	0.023	0.09650	T	10	0.0047879815	0.00101	T	0.013714	0.33318	T	0.080	0.23350	.	.	0.259272394797	0.25527	0.4221608113651136	0.42133	0.192924809784	0.21626	0.361607074738	0.19620	T	0.007393	0.06799	T	-0.632425	0.00092	T	-0.67453	0.07321	T	0.00802774781014777	0.00095	T	0.171583	0.01629	T	0.03452273	0.03891	0.045653746	0.06190	0.03452273	0.03891	0.045653746	0.06189	-4.22	0.27040	T	.	.	0.060	0.00904	B	.	.	3.128772	0.42274	21.5	0.69891289535193057	0.09118	0.16885	0.19593	N	AEFGBI	0.161162	0.28718	N	-0.983271826971256	0.08960	0.42218	-0.924399695000994	0.11519	0.5873157	0.103581531675459	0.16451	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.83	3.92	0.44525	1.932000	0.39773	0.185000	0.15676	-0.375000	0.05424	0.095000	0.22689	0.004000	0.18990	0.018000	0.11154	0.0:0.6904:0.2244:0.0852	9.438	0.37814	499	0.76092	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007336	0.006329	0.008219	0.000000	0.000000	0.000000	0.016779	0.008130	0.07143	344.63	32	chr15	78766976	.	C	T	344.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.098;DP=199;ExcessHet=0;FS=2.88;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=-0.175;SOR=1.244	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1245	6	0	1	0
chr15	78776778	78776778	C	T	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon10:c.G1531A:p.V511M	.	404	1103	15	0	0	15	0.00675371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0048	0.0011	0.0024	0	0	0.0050	0.0101	0.0062	0.0010479	162	154602	rs146326084	0.0031	0.0093	0.0030	0.0031	0.0068	0.0030	0.0030	0.0051	0.0045	0.0004	0.0014	0.0002	0	0.0002	0.0068	0.0036	0.0026	0.0026	0.0010	0.0055	0.0010	0.0010	0.0017	0.0009	0.0008	0.0013	0.0012	0.0002	0	0.0017	0.0003	0	0.0006	0.0035	0.0015	0.0010	0.0017	0.03	0.45393	D	0.035	0.52389	D	1.0	0.90584	D	0.996	0.84481	D	0.000002	0.62929	D	0.000000	0.999984	0.54805	D	.	.	.	0.16	0.60610	T	-2.24	0.50175	N	0.368	0.40963	-0.4123	0.71636	T	0.311	0.68112	T	10	0.024242163	0.00660	T	.	.	.	0.197	0.47942	.	.	0.77308684516	0.77100	0.5804270689733002	0.57971	0.749224044332	0.63684	0.658837497234	0.61242	T	0.022508	0.17341	T	0.0405265	0.57114	T	-0.179563	0.56563	T	0.544937610626221	0.34288	D	0.940706	0.77799	D	0.1005538	0.23745	0.15226209	0.35831	0.1005538	0.23744	0.15226209	0.35830	-8.343	0.63384	D	.	.	0.271	0.50509	B	.	.	4.508606	0.70581	25.5	0.99908254673372687	0.97801	0.96474	0.69319	D	AEFBI	0.650980	0.62489	D	0.534252785431371	0.69131	5.31345	0.480624850693116	0.66706	4.987275	0.999999161379799	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.09	4.09	0.47038	7.482000	0.80187	5.790000	0.49863	0.518000	0.23583	1.000000	0.71638	1.000000	0.68203	0.744000	0.35576	0.0:1.0:0.0:0.0	15.061	0.71618	496	0.76301	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003712	0.000000	0.005731	0.000000	0.000000	0.000000	0.006494	0.003788	0.07143	374.46	40	chr15	78776778	.	C	T	374.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.799;DP=407;ExcessHet=0;FS=1.78;MLEAC=1;MLEAF=0.071;MQ=59.49;MQRankSum=-10.74;QD=1.73;ReadPosRankSum=3.82;SOR=0.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:193,23:216:99:0|1:78776778_C_T:385,0,7940:78776778	6	0	1	0
chr15	78776843	78776843	T	C	splicing	ADAMTS7	NM_014272:exon10:c.1468-2A>G	.	.	.	390	1119	13	0	0	13	0.00577521	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.999e-05	0.0004	0	0	0	0	0	0	3.23e-05	5	154602	rs761832715	0.0006	0.0038	0.0005	0.0006	0.0018	0.0005	0.0005	0.0016	0.0015	0.0002	0.0006	0.0001	0.0006	0.0002	0.0018	0.0005	0.0007	0.0018	0.0006	0.0041	0.0006	0.0006	0.0009	0.0005	0.0005	0.0007	0.0006	0.0003	0	0.0009	0	0.0004	0	0	0.0009	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12313	0.66684	D	-0.0609084	0.66268	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.618340	0.73312	26.0	0.99143664291259825	0.53600	0.96440	0.69150	D	AEFBI	.	.	.	0.821604702649219	0.87435	9.217823	0.583033767872228	0.73725	6.017524	0.999366450694202	0.39301	0.262962	0.04601	0	0.084543	0.02171	0	0.292756	0.05521	0	0.24341	0.04801	0	0.877846	0.54522	3.85	3.85	0.43556	7.587000	0.81895	5.989000	0.52298	0.574000	0.29054	1.000000	0.71638	1.000000	0.68203	0.230000	0.22734	0.0:0.0:0.0:1.0	11.631	0.50434	496	0.76301	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	301.53	40	chr15	78776843	.	T	C	301.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.43;DP=306;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.53;MQRankSum=-4.989;QD=3.05;ReadPosRankSum=-1.291;SOR=0.532	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,14:99:99:0|1:78776843_T_C:312,0,3407:78776843	6	0	1	0
chr15	78777549	78777549	C	G	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon9:c.G1362C:p.K454N	.	411	1105	6	0	0	6	0.00270758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00331826776372	0.0002	0.000399361	0.0007	0.0001	0	0	0	0.0002	0.0018	0.0039	0.0004334	67	154602	rs368625769	0.0003	0.0003	0.0003	0.0004	0.0037	0.0003	0.0003	0.0033	0.0032	8.979e-05	2.273e-05	0	0	0	0.0023	0.0001	0.0002	0.0037	0.0002	0.0002	0.0001	0.0004	0.0043	0.0002	0.0002	0.0029	0.0024	0	0	0	0	0	0	0.0068	0.0002	0	0.0043	0.04	0.42199	D	0.06	0.45744	T	0.326	0.33151	B	0.065	0.27321	B	0.002945	0.35672	U	0.218683	1	0.08975	N	1.705	0.44259	L	3.85	0.03650	T	-3.27	0.65512	D	0.295	0.33360	-0.9804	0.34909	T	0.011	0.03949	T	10	0.0054985583	0.00121	T	0.003318	0.07390	T	0.023	0.04649	0.494	0.58206	0.301122078929	0.29733	0.585153508337659	0.58445	0.246319457913	0.27172	0.418677449226	0.27655	T	0.052872	0.29285	T	-0.614502	0.00119	T	-0.65883	0.08346	T	0.0160776397149462	0.00386	T	0.586041	0.21384	T	0.3993194	0.60685	0.20948091	0.45295	0.3993194	0.60685	0.20948091	0.45294	-11.05	0.79931	D	.	.	0.253	0.48787	B	.	.	2.208507	0.28174	17.71	0.95620179880521328	0.27386	0.07140	0.13165	N	AEFBI	0.083281	0.16870	N	-0.693907276902492	0.16194	0.822901	-0.791269864258685	0.14709	0.7699659	0.739654559118932	0.23190	0.634777	0.41761	0	0.588015	0.36545	0	0.779548	0.98927	0	0.645665	0.59343	0	.	.	4.02	0.617	0.16794	-0.122000	0.10602	0.317000	0.17144	0.515000	0.23462	0.098000	0.22752	0.928000	0.28476	0.426000	0.27362	0.1701:0.3459:0.3742:0.1098	2.658	0.04712	493	0.76500	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000508	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.07143	380.49	37	chr15	78777549	.	C	G	380.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.438;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=2.04;SOR=0.781	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	6	0	1	0
chr15	80979281	80979281	C	T	exonic	MESD	.	nonsynonymous SNV	MESD:NM_015154:exon3:c.G643A:p.D215N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00374647076671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.23007	T	0.033	0.53072	D	0.003	0.11197	B	0.005	0.11217	B	0.735015	0.06393	N	1.113020	1	0.08975	N	0.69	0.16971	N	.	.	.	-0.65	0.18877	N	0.07	0.04307	-1.0125	0.26133	T	0.063	0.26172	T	9	0.06306937	0.08161	T	0.003746	0.08682	T	0.043	0.11576	0.339	0.32979	0.128874641272	0.12493	0.09925729230670419	0.09856	0.150817111893	0.17009	0.336606562138	0.15930	T	0.174057	0.52315	T	-0.302098	0.08464	T	-0.671719	0.07498	T	0.096747561527059	0.11995	T	0.676232	0.28483	T	0.095348746	0.22439	0.046599172	0.06530	0.095348746	0.22438	0.046599172	0.06530	-3.729	0.19747	T	.	.	0.065	0.01884	B	.;.	.;.	1.688363	0.21515	15.23	0.98883705611896733	0.47877	0.35702	0.25363	N	AEFBI	0.116050	0.22792	N	-0.886794806833915	0.11156	0.5368538	-0.856471271489746	0.13132	0.6795677	0.996541291354058	0.34819	0.722319	0.85440	0	0.702456	0.74545	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.07	1.12	0.19700	0.657000	0.24647	-0.506000	0.08774	0.599000	0.40250	0.228000	0.24622	0.000000	0.08366	0.237000	0.22922	0.0:0.6053:0.0:0.3947	7.887	0.28822	958	0.09170	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	94.83	64	chr15	80979281	.	C	T	94.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.327;DP=297;ExcessHet=0;FS=99.147;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.86;ReadPosRankSum=0.7;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1214:.	6	0	1	0
chr15	82344921	82345130	TAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACG	-	exonic	GOLGA6L10	.	nonframeshift deletion	GOLGA6L10:NM_001164465:exon6:c.730_939del:p.R244_L313del,GOLGA6L10:NM_001322400:exon6:c.730_939del:p.R251_L320del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0010	0.0006	0.0006	0.0013	0.0006	0.0006	0.0010	0.0009	0.0006	0.0006	0.0017	0.0009	0.0007	0.0013	0.0006	0.0010	0.0012	0.0010	0.0013	0.0009	0.0010	0.0013	0.0008	0.0008	0.0010	0.0009	0.0013	0	0.0005	0.0013	0.0005	0.0025	0.0042	0.0007	0.0012	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1007.0	39	chr15	82344920	.	ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACG	A	1007.0	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.089;DP=641;ExcessHet=0.3476;FS=56.487;MLEAC=1;MLEAF=0.071;MQ=39.72;MQRankSum=-1.98;QD=2.72;ReadPosRankSum=1.35;SOR=1.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:88,0:131:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:794,1056,4168:82344920	6	0	1	0
chr15	82345026	82345110	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	0	exonic	GOLGA6L10	.	.	.	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	127.85	42	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*	127.85	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.24;DP=778;ExcessHet=1.1394;FS=15.248;MLEAC=2;MLEAF=0.143;MQ=38.5;MQRankSum=-0.364;QD=0.28;ReadPosRankSum=-1.257;SOR=0.958	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:142,57:208:99:.:.:1200,0,3752:.	5	0	2	0
chr15	82345027	82345110	AGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	-	exonic	GOLGA6L10	.	nonframeshift deletion	GOLGA6L10:NM_001164465:exon6:c.750_833del:p.R286_L313del,GOLGA6L10:NM_001322400:exon6:c.750_833del:p.R251_L278del	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0017	0.0007	0.0007	0.0028	0.0007	0.0006	0.0020	0.0017	0.0007	0.0010	0.0026	0.0028	0.0016	0.0008	0.0006	0.0014	0.0005	0.0006	0.0016	0.0005	0.0007	0.0028	0.0004	0.0004	0.0011	0.0007	0.0005	0	0.0003	0.0005	0	0.0017	0	0.0004	0.0010	0.0028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	127.85	42	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	T	127.85	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.24;DP=778;ExcessHet=1.1394;FS=15.248;MLEAC=1;MLEAF=0.071;MQ=38.5;MQRankSum=-0.364;QD=0.28;ReadPosRankSum=-1.257;SOR=0.958	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:142,9:208:99:.:.:1200,1445,9656:.	6	0	1	0
chr15	82345046	82345046	G	0	exonic	GOLGA6L10	.	.	.	.	649	829	42	0	2	44	0.0247059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	31.71	58	chr15	82345046	.	G	*	31.71	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-0.967;DP=830;ExcessHet=2.5225;FS=15.134;MLEAC=4;MLEAF=0.5;MQ=22.34;MQRankSum=-0.967;QD=0.07;ReadPosRankSum=0;SOR=0.949	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,59:208:99:0|1:82345023_ACGTAGCCTCTCCTCC_*:1252,0,3759:82345023	1	0	3	3
chr15	82345087	82345087	C	0	exonic	GOLGA6L10	.	.	.	.	748	741	8	0	25	33	0.00536913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	607.58	71	chr15	82345087	.	C	*	607.58	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.77;DP=790;ExcessHet=1.1394;FS=11.916;MLEAC=2;MLEAF=0.143;MQ=37.72;MQRankSum=-1.074;QD=1.34;ReadPosRankSum=-2.863;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:141,21:206:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:628,611,7660:82344920	5	0	2	0
chr15	82347615	82347615	C	T	exonic	GOLGA6L10	.	stopgain	GOLGA6L10:NM_001164465:exon2:c.G99A:p.W33X,GOLGA6L10:NM_001322400:exon2:c.G99A:p.W33X	.	410	1107	5	0	0	5	0.00225327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1466313821	9.284e-05	0.0005	8.898e-05	9.674e-05	0.0002	8e-05	7.471e-05	0.0001	0.0001	0	0.0002	0	0	0	0	9e-05	0.0001	0.0002	0.0001	0.0003	0.0001	0.0001	0.0008	8.659e-05	7.252e-05	0.0003	0.0002	9.629e-05	0	0	0	0	0	0	0.0002	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.10340	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00398868	0.52202	T	-0.232047	0.51573	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.536415	0.49643	22.8	0.9031175888059354	0.19578	0.00208	0.01187	N	AEFI	0.022741	0.01175	N	.	.	.	.	.	.	1.09648973830877E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	-0.127000	0.10524	-0.272000	0.10340	0.221000	0.18078	0.052000	0.21487	0.002000	0.18203	0.002000	0.04165	.	.	.	809	0.43032	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	122.44	35	chr15	82347615	.	C	T	122.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.095;DP=306;ExcessHet=0;FS=3.62;MLEAC=1;MLEAF=0.071;MQ=48.12;MQRankSum=-0.093;QD=1.04;ReadPosRankSum=0.065;SOR=1.23	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1467	6	0	1	0
chr15	83263096	83263096	G	A	exonic	BNC1	.	nonsynonymous SNV	BNC1:NM_001301206:exon4:c.C2134T:p.R712C,BNC1:NM_001717:exon4:c.C2155T:p.R719C	.	422	1096	3	1	0	5	0.00227583	.	.	.	2245763	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.0199555661979	7.7e-05	.	0.0002	0	0	0.0001	0	7.493e-05	0.0011	0.0012	0.0001876	29	154602	rs201815978	0.0001	0.0001	7.759e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	2.987e-05	2.236e-05	0	0.0002	1.872e-05	0.0005	2.878e-05	0.0001	0.0018	0.0002	0.0002	3.855e-05	0.0003	0.0033	0.0001	0.0001	0.0021	0.0017	4.812e-05	0	0.0001	0	0.0004	0	0	5.88e-05	0	0.0033	0.076	0.34982	T	0.072	0.43344	T	0.01	0.17573	B	0.003	0.08700	B	0.004197	0.34013	N	0.323427	0.989888	0.41043	D	1.445	0.36358	L	0.15	0.60734	T	-1.91	0.44471	N	0.227	0.26957	-0.9497	0.41023	T	0.159	0.49329	T	10	0.018577337	0.00405	T	0.019956	0.42451	T	0.067	0.19503	.	.	0.0675242888579	0.06100	0.35129110195900404	0.35043	0.198306470741	0.22208	0.367581814528	0.20484	T	0.184307	0.53693	T	-0.414055	0.01868	T	-0.397617	0.33661	T	0.0206676764154318	0.00766	T	0.853415	0.53896	D	0.079213805	0.18084	0.06297442	0.12403	0.079213805	0.18084	0.06297442	0.12402	-5.271	0.39655	T	.	.	0.094	0.19679	B	.;.	.;.	3.142403	0.42507	21.6	0.99079914664387436	0.51930	0.63233	0.32025	D	AEFBI	0.085879	0.17411	N	-0.338762001893546	0.27687	1.521091	-0.282199210678542	0.28685	1.601237	0.225333597737654	0.18403	0.624846	0.39970	0	0.59043	0.45803	0	0.650271	0.49498	0	0.635551	0.53088	0	.	.	5.46	2.44	0.28875	2.466000	0.44742	4.510000	0.43644	0.676000	0.76740	0.997000	0.40164	0.995000	0.32472	0.993000	0.69303	0.2077:0.0:0.6643:0.128	6.522	0.21476	430	0.80826	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	2592.44	33	chr15	83263096	.	G	A	2592.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.26;DP=399;ExcessHet=0;FS=1.692;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-0.24;SOR=0.642	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1079	6	0	1	0
chr15	84240000	84240000	C	T	exonic	GOLGA6L4	.	nonsynonymous SNV	GOLGA6L4:NM_001267536:exon6:c.C646T:p.R216C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00264721639584	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199861744	0.0001	0.0003	0.0001	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0001	0.0002	0	0.0001	0.0003	0	9.683e-05	0.0001	0.0005	0.0001	9.217e-05	0.0003	0	0.0002	2.429e-05	9.7e-06	3.517e-05	1.438e-05	0	0	0	0	0	0	0	0.0002	0	0	0.103	0.30097	T	0.111	0.37173	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.93	0.22881	T	-2.3	0.51157	N	0.154	0.15888	-1.0211	0.23357	T	0.052	0.22230	T	4	0.07866424	0.12563	T	0.002647	0.05406	T	0.050	0.13987	.	.	0.0551355673512	0.04727	0.027535362432832812	0.02703	2.36362769044	0.96864	.	.	.	0.063132	0.32096	T	-0.285328	0.10110	T	-0.64763	0.09121	T	0.0658718655270513	0.08059	T	0.134587	0.01064	T	0.08018273	0.18358	0.1661824	0.38405	0.08018273	0.18357	0.1661824	0.38404	-4.271	0.27768	T	.	.	0.189	0.40730	B	.	.	0.821933	0.11932	8.494	0.55735711946588318	0.05404	0.00255	0.01401	N	AEFI	0.043370	0.06847	N	-0.8140046911916	0.12952	0.6347719	-1.05909916569817	0.08517	0.4192082	4.03317645648846E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	.	.	.	-1.226000	0.03063	-0.649000	0.08038	-1.672000	0.00798	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	778	0.48011	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	79.81	.	chr15	84240000	.	C	T	79.81	.	AC=2;AF=0.25;AN=8;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=22;QD=32.02;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:2,0:2:6:.:.:0,6,49:.	3	1	0	3
chr15	84240189	84240189	C	T	exonic	GOLGA6L4	.	nonsynonymous SNV	GOLGA6L4:NM_001267536:exon6:c.C835T:p.R279C	.	753	753	16	0	0	16	0.0105125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.000722496831276	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1171360296	0.0010	0.0077	0.0011	0.0009	0.0021	0.0009	0.0009	0.0012	0.0011	0.0002	0.0003	0.0006	0.0003	0.0008	0.0021	0.0013	0.0014	0.0002	0.0002	0.0006	0.0002	0.0003	0.0004	0.0002	0.0001	0.0001	0.0001	0.0001	0	0.0004	0.0004	0	0.0007	0	0.0002	0.0006	0	0.1	0.30515	T	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.23639	N	.	.	.	2.4	0.15608	T	-2.26	0.50502	N	0.099	0.08088	-1.0086	0.27354	T	0.036	0.15334	T	6	0.15234295	0.28778	T	7.22E-4	0.00472	T	0.024	0.04979	0.426	0.47185	0.0716867268079	0.06686	0.02407774487081985	0.02358	2.36362769044	0.96864	.	.	.	0.079796	0.36213	T	-0.314989	0.07317	T	-0.690236	0.06375	T	0.0766820126804913	0.09557	T	0.456254	0.13085	T	0.057518452	0.11456	0.05492262	0.09536	0.057518452	0.11456	0.05492262	0.09536	-3.926	0.22693	T	.	.	0.170	0.37445	B	.	.	1.326514	0.17311	13.09	0.57909294928781596	0.05873	0.00472	0.02260	N	AEFI	0.035008	0.04434	N	-0.663721429905769	0.17061	0.8747681	-0.894485716978703	0.12224	0.6275393	6.87443934965625E-6	0.01202	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	0.762	0.762	0.17600	-6.096000	0.00099	-10.050000	0.00745	-1.170000	0.01400	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.972	0.13469	778	0.48011	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	105.83	30	chr15	84240189	.	C	T	105.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.255;DP=201;ExcessHet=0;FS=3.899;MLEAC=1;MLEAF=0.071;MQ=32.19;MQRankSum=-1.602;QD=2.71;ReadPosRankSum=-0.411;SOR=1.249	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:23,0:23:69:.:.:0,69,646:.	6	0	1	0
chr15	84512452	84512452	C	0	exonic	GOLGA6L4	.	.	.	.	671	744	60	0	47	107	0.0387597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	720.63	34	chr15	84512452	.	C	*	720.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.834;DP=501;ExcessHet=0.3476;FS=3.287;MLEAC=1;MLEAF=0.071;MQ=43.5;MQRankSum=2.22;QD=2.61;ReadPosRankSum=-0.882;SOR=0.496	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:110,0:150:99:.:.:731,1064,5042:.	6	0	1	0
chr15	84512517	84512517	T	0	exonic	GOLGA6L4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	173.97	34	chr15	84512517	.	T	*	173.97	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.271;DP=364;ExcessHet=0;FS=3.859;MLEAC=4;MLEAF=0.286;MQ=46.02;MQRankSum=-5.822;QD=1.12;ReadPosRankSum=0.662;SOR=1.132	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,24:92:99:.:.:913,180,3485:.	5	2	0	0
chr15	84512517	84512517	-	AGCCTCTCCTCCTGTTCACAC	exonic	GOLGA6L4	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.0074	0.0036	0.0036	0.0225	0.0035	0.0035	0.0211	0.0206	0.0003	0.0019	0.0031	0.0225	0.0093	0.0059	0.0031	0.0049	0.0007	0.0010	0.0031	0.0010	0.0010	0.0019	0.0008	0.0008	0.0012	0.0011	0.0002	0	0.0013	0.0004	0.0019	0.0015	0	0.0015	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	173.97	34	chr15	84512517	.	T	TAGCCTCTCCTCCTGTTCACAC	173.97	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.271;DP=364;ExcessHet=0;FS=3.859;MLEAC=1;MLEAF=0.071;MQ=46.02;MQRankSum=-5.822;QD=1.12;ReadPosRankSum=0.662;SOR=1.132	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,30:92:99:.:.:913,0,1509:.	6	0	1	0
chr15	85580578	85580578	C	T	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_006738:exon7:c.C2510T:p.T837M,AKAP13:NM_007200:exon7:c.C2510T:p.T837M	.	425	1080	17	0	0	17	0.00780891	.	.	.	2814436	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.156	0.0154791093846	0.0065	0.00199681	0.0050	0.0021	0.0021	0	0.0006	0.0061	0.0044	0.0088	0.0051681	799	154602	rs114703106	0.0081	0.0081	0.0080	0.0083	0.0094	0.0080	0.0080	0.0092	0.0091	0.0013	0.0021	0.0002	2.519e-05	0.0009	0.0028	0.0093	0.0083	0.0094	0.0048	0.0048	0.0049	0.0047	0.0083	0.0045	0.0044	0.0076	0.0074	0.0017	0	0.0028	0	0.0002	0.0003	0	0.0082	0.0061	0.0083	0.102	0.30235	T	0.023	0.60972	D	0.983	0.63424	D	0.353	0.49411	B	.	.	.	.	1	0.08975	N	1.245	0.31408	L	2.67	0.12473	T	-0.67	0.19297	N	0.076	0.06720	-1.0340	0.19173	T	0.017	0.06998	T	9	0.0032957494	0.00057	T	0.015479	0.36235	T	0.156	0.40720	.	.	0.257342827899	0.25358	0.16174020761707314	0.16095	0.134875707514	0.15193	0.25040858984	0.03811	T	0.011446	0.26033	T	-0.602687	0.00140	T	-0.628106	0.10559	T	0.0215881027544208	0.00864	T	0.648535	0.25952	T	0.014690307	0.00103	0.018940158	0.00071	0.014690307	0.00103	0.018940158	0.00071	-4.915	0.35903	T	.	.	0.079	0.07318	B	.;.;.	.;.;.	1.298715	0.17006	12.90	0.96240630383982884	0.29151	0.05087	0.10884	N	AEFDBHCIJ	.	.	.	-0.813794746198301	0.12957	0.6350632	-0.918950610105861	0.11647	0.5946478	0.999999113325717	0.74766	0.75658	0.98901	0	0.696144	0.67643	0	0.65145	0.50148	0	0.656636	0.63459	0	.	.	5.32	1.65	0.23015	1.223000	0.32131	0.711000	0.20937	-1.005000	0.01788	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.5793:0.1902:0.088:0.1425	2.281	0.03862	714	0.56256	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006042	0.000000	0.002717	0.005848	0.000000	0.008621	0.009146	0.011364	0.07143	1213.44	56	chr15	85580578	.	C	T	1213.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.4;DP=402;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=0.913;SOR=0.641	GT:AD:DP:GQ:PL	0/0:109,0:109:99:0,120,1800	6	0	1	0
chr15	85710582	85710582	C	T	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_001270546:exon11:c.C1399T:p.P467S,AKAP13:NM_006738:exon19:c.C5548T:p.P1850S,AKAP13:NM_007200:exon19:c.C5536T:p.P1846S	.	420	1098	3	1	0	5	0.00227169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0215872086774	0.0005	0.000199681	0.0010	0	0.0005	0	0.0009	0.0012	0.0011	0.0020	0.0009185	142	154602	rs112971613	0.0008	0.0008	0.0007	0.0009	0.0047	0.0007	0.0007	0.0033	0.0028	8.965e-05	0.0005	0.0060	0	0.0006	0.0047	0.0006	0.0012	0.0024	0.0006	0.0006	0.0006	0.0005	0.0017	0.0005	0.0004	0.0008	0.0006	2.406e-05	0	0.0007	0.0037	0	0.0006	0.0034	0.0007	0.0005	0.0017	0.005	0.63226	D	0.545	0.25135	T	0.972	0.60381	D	0.647	0.58514	P	.	.	.	.	0.836321	0.34996	D	2.365	0.68172	M	2.87	0.10674	T	-3.3	0.65858	D	0.215	0.31365	-0.9349	0.43409	T	0.086	0.33550	T	9	0.0072150826	0.00164	T	0.021587	0.44379	T	0.103	0.29403	.	.	0.306606720791	0.30265	0.253976200292315	0.25311	0.0720078123566	0.08073	0.443444252014	0.31048	T	0.08597	0.38019	T	-0.475985	0.00781	T	-0.463759	0.26191	T	0.0633773362172743	0.07688	T	0.940506	0.78031	D	0.19886824	0.41805	0.23886791	0.49220	0.19886824	0.41805	0.23886791	0.49219	-9.808	0.72754	D	.	.	0.099	0.35808	B	.;.;.;.;.;.	.;.;.;.;.;.	3.976917	0.58430	24.0	0.99920635407809288	0.98721	0.97037	0.72325	D	ALL	0.560422	0.56883	D	0.253272392519338	0.53800	3.547553	0.328782688902294	0.57236	3.888775	0.999999999999997	0.74766	0.706298	0.61202	0	0.648423	0.57943	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.95	5.03	0.67015	5.812000	0.68868	5.893000	0.50786	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1513:0.8487:0.0:0.0	14.003	0.63962	754	0.51307	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.001359	0.002924	0.000000	0.000000	0.024390	0.007576	0.2143	6035.7	33	chr15	85710582	.	C	T	6035.7	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.618;DP=612;ExcessHet=0;FS=0.54;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=21.56;ReadPosRankSum=-1.013;SOR=0.763	GT:AD:DP:GQ:PL	0/0:104,0:104:99:0,120,1800	5	1	1	0
chr15	86142017	86142017	A	G	exonic	AGBL1	.	nonsynonymous SNV	AGBL1:NM_152336:exon2:c.A65G:p.K22R	Corneal dystrophy, Fuchs endothelial, 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	.	.	.	0.0001	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs759396378	2.79e-05	2.668e-05	1.129e-05	4.497e-05	0.0005	2.089e-05	1.834e-05	0.0004	0.0003	0	0	0	0	0	0	0	0	0.0005	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	7.296e-05	3.031e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9876	0.33200	T	0.079	0.31526	T	5	0.122226596	0.23183	T	.	.	.	0.186	0.46104	.	.	.	.	0.050440090588068066	0.04987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582642	0.21138	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.01786	B	.	.	1.257498	0.16549	12.61	0.59182279510737013	0.06164	0.07074	0.13100	N	AEFBI	.	.	.	-0.941358542865043	0.09888	0.4700118	-1.08591921048569	0.07976	0.390239	0.0036404231356009	0.10212	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0768874	0.17753	5.04	-4.37	0.03381	0.542000	0.22930	1.117000	0.24210	-0.576000	0.04747	0.856000	0.30544	0.983000	0.30585	0.015000	0.10482	0.6778:0.0:0.3222:0.0	11.233	0.48155	480	0.77422	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	2999.26	37	chr15	86142017	.	A	G	2999.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.794;DP=460;ExcessHet=0.3476;FS=1.36;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=0.401;SOR=0.801	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1435	5	0	2	0
chr15	88530840	88530840	T	C	exonic	DET1	.	nonsynonymous SNV	DET1:NM_001144074:exon2:c.A866G:p.D289G,DET1:NM_001321596:exon3:c.A866G:p.D289G,DET1:NM_017996:exon3:c.A899G:p.D300G,DET1:NM_001321594:exon4:c.A764G:p.D255G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.00613817741382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.51853	D	0.009	0.66756	D	0.505	0.37231	P	0.27	0.39872	B	0.000016	0.62929	D	0.152324	0.999966	0.81001	D	1.385	0.34509	L	.	.	.	-3.25	0.65283	D	0.479	0.51672	-0.7606	0.57373	T	0.199	0.55428	T	9	0.52906257	0.63078	D	0.006138	0.16082	T	0.318	0.64008	0.456	0.52102	0.0675242888579	0.06100	0.595297197239194	0.59459	0.736621479123	0.63016	0.657280743122	0.61021	T	0.425961	0.77591	T	0.0656937	0.60321	T	-0.143412	0.59821	T	0.961599886417389	0.66126	D	0.915108	0.69728	D	0.35442662	0.57409	0.35527286	0.61058	0.35442662	0.57409	0.35527286	0.61057	-3.559	0.17871	T	.	.	0.422	0.62236	A	.;.;.;.	.;.;.;.	3.993478	0.58790	24.0	0.9968250448962318	0.79373	0.98529	0.83755	D	AEFBI	0.844511	0.76147	D	0.374329023459271	0.60035	4.188161	0.514087085182772	0.68935	5.28951	0.999999999890716	0.74766	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	7.279000	0.77969	7.849000	0.70877	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.003	0.80122	882	0.29131	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	36.89	54	chr15	88530840	.	T	C	36.89	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.707;DP=467;ExcessHet=0.4139;FS=202.526;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.23;ReadPosRankSum=1.09;SOR=7.824	GT:AD:DP:GQ:PL	0/1:85,24:109:22:22,0,1904	4	0	2	1
chr15	88840083	88840083	C	A	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon4:c.C526A:p.L176M,ACAN:NM_001369268:exon4:c.C526A:p.L176M,ACAN:NM_013227:exon4:c.C526A:p.L176M	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.003206163376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.57480	D	0.069	0.44905	T	0.822	0.45767	P	0.371	0.43568	B	0.021523	0.26815	N	0.000000	0.885968	0.27967	N	1.935	0.51832	L	2.93	0.09822	T	-1.57	0.39119	N	0.474	0.50958	-1.1232	0.02138	T	0.047	0.20156	T	10	0.38677743	0.54598	T	0.003206	0.07026	T	0.152	0.39956	0.697	0.83406	0.220282294035	0.21616	0.37347673423663424	0.37261	0.190798805899	0.21393	0.692191958427	0.66021	T	0.199873	0.55729	T	-0.187783	0.22584	T	-0.507514	0.21570	T	0.819295823574066	0.47720	D	0.651335	0.26216	T	0.23617725	0.46464	0.1649454	0.38184	0.23617725	0.46464	0.1649454	0.38183	-6.561	0.50755	T	0.12588862966229314	0.12607	0.266	0.57230	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.957189	0.58015	23.9	0.99084288231747331	0.52051	0.73707	0.36053	D	AEFDBI	0.194863	0.32193	N	0.494767614341856	0.66783	4.995038	0.536138407049464	0.70441	5.505406	0.605994139369019	0.21765	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.79	4.87	0.62877	2.467000	0.44750	2.187000	0.31177	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.2398:0.6818:0.0:0.0784	8.048	0.29720	968	0.07033	Link domain|Link domain|Link domain;Link domain|Link domain|Link domain;Link domain|Link domain|Link domain;Link domain|Link domain|Link domain;.;.;Link domain|Link domain|Link domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	35	chr15	88840083	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1176	6	1	0	0
chr15	88847317	88847317	C	T	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon8:c.C1504T:p.R502C,ACAN:NM_001369268:exon8:c.C1504T:p.R502C,ACAN:NM_013227:exon8:c.C1504T:p.R502C	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	726319	ACAN-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.116	.	8e-05	0.00199681	0.0016	0	0.0009	0.0177	0	0.0009	0	0.0004	0.0005951	92	154602	rs149841431	0.0005	0.0005	0.0005	0.0005	0.0113	0.0005	0.0005	0.0104	0.0100	3.063e-05	0.0001	3.933e-05	0.0113	0	0.0008	0.0002	0.0013	0.0002	0.0004	0.0004	0.0004	0.0004	0.0077	0.0003	0.0003	0.0058	0.0052	2.405e-05	0	0.0002	0	0.0077	0	0	0.0002	0	0.0002	0.014	0.54683	D	0.045	0.53072	D	0.984	0.60733	D	0.657	0.52725	P	.	.	.	.	1	0.08975	N	.	.	.	2.92	0.09915	T	-3.89	0.72932	D	0.451	0.54496	-1.0351	0.18825	T	0.021	0.08870	T	9	0.008435458	0.00191	T	.	.	.	0.116	0.32463	.	.	0.043077524339	0.03247	0.3536070732219398	0.35274	0.268968767611	0.29410	0.315468013287	0.12735	T	0.017024	0.13960	T	-0.583273	0.00184	T	-0.605058	0.12390	T	0.0566160685719509	0.06624	T	0.972478	0.90093	D	0.1972492	0.41583	0.19035357	0.42434	0.1972492	0.41583	0.19035357	0.42433	-9.927	0.73473	D	0.12739472640337274	0.13034	0.359	0.57963	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.823488	0.37201	20.4	0.9960632599452578	0.74516	0.10167	0.15747	N	AEFDBI	0.137334	0.25828	N	-0.0244544625795005	0.40749	2.425404	-0.0992705148564682	0.35421	2.049057	0.0500762480769179	0.14827	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.54	1.73	0.23565	0.561000	0.23220	-0.450000	0.09105	0.583000	0.30283	0.143000	0.23551	0.000000	0.08366	0.417000	0.27162	0.1243:0.4283:0.3547:0.0926	4.067	0.09341	969	0.06854	Link domain|Link domain|Link domain|Link domain;Link domain|Link domain|Link domain|Link domain;Link domain|Link domain|Link domain|Link domain;Link domain|Link domain|Link domain|Link domain;.;.;Link domain|Link domain|Link domain|Link domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002538	0.000000	0.004087	0.000000	0.000000	0.008621	0.003106	0.000000	0.07143	1404.53	39	chr15	88847317	.	C	T	1404.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.68;DP=299;ExcessHet=0;FS=0.781;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=-0.678;SOR=0.602	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1620	6	0	1	0
chr15	88856755	88856755	-	AGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAG	exonic	ACAN	.	nonframeshift insertion	ACAN:NM_001135:exon12:c.4170_4171insAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAG:p.D1390_I1391insSGLPSGEVLETTAPGVDE,ACAN:NM_001369268:exon12:c.4170_4171insAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAG:p.D1390_I1391insSGLPSGEVLETTAPGVDE,ACAN:NM_013227:exon12:c.4170_4171insAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAG:p.D1390_I1391insSGLPSGEVLETTAPGVDE	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	0.0025	0.0018	0.0020	0.0026	0.0018	0.0018	0.0023	0.0022	0.0003	0.0004	0.0024	0.0005	0.0048	0.0024	0.0018	0.0024	0.0026	6.283e-05	6.267e-05	9.208e-05	3.217e-05	0.0001	2.066e-05	1.288e-05	4.919e-05	3.001e-05	0	0	0	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	200.4	40	chr15	88856755	.	C	CAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAG	200.4	.	AC=1;AF=0.071;AN=14;DP=286;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=49.26;QD=2.3;SOR=0.523	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1177	6	0	1	0
chr15	88859079	88859079	C	T	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon12:c.C6494T:p.P2165L,ACAN:NM_001369268:exon12:c.C6494T:p.P2165L,ACAN:NM_013227:exon12:c.C6494T:p.P2165L	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	0	1514	8	0	0	8	0.00263505	.	.	.	3298501	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	0.00663874360172	.	0.000199681	6.634e-05	0	8.64e-05	0	0	7.508e-05	0	0.0001	5.82e-05	9	154602	rs540453723	6.5e-05	6.498e-05	5.037e-05	7.977e-05	0.0012	5.429e-05	5.042e-05	0.0006	0.0004	2.987e-05	6.708e-05	0	0	0	0.0012	4.677e-05	0.0001	0.0003	5.252e-05	5.249e-05	7.71e-05	2.684e-05	0.0002	2.555e-05	1.829e-05	3.762e-05	2.575e-05	0	0	6.535e-05	0	0	0	0	8.82e-05	0	0.0002	0.023	0.48186	D	0.159	0.31527	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.58	0.02341	T	-6.08	0.90976	D	0.075	0.08088	-0.9812	0.34724	T	0.011	0.04227	T	9	0.08658934	0.14733	T	0.006639	0.17529	T	0.033	0.08068	.	.	0.043077524339	0.03247	0.25210518492392314	0.25124	0.244393863738	0.26944	0.2676872015	0.05841	T	.	.	.	-0.471344	0.00834	T	-0.614505	0.11622	T	0.0381375315688783	0.03355	T	0.744226	0.37327	T	0.07296229	0.16269	0.09664733	0.22973	0.07296229	0.16268	0.09664733	0.22972	-5.478	0.41662	T	0.1273380758267501	0.13021	0.093	0.31048	B	.;.;.;.;.;.	.;.;.;.;.;.	0.470893	0.08402	5.160	0.99610183571755584	0.74753	0.16677	0.19499	N	AEFBI	0.098953	0.19929	N	-0.545360417908687	0.20628	1.088906	-0.626060729129062	0.18824	1.007323	0.0364625244873343	0.14246	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.06	2.99	0.33673	-0.291000	0.08379	-5.891000	0.01562	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.2965:0.5972:0.0:0.1063	5.464	0.15929	969	0.06854	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.000000	0.07143	1612.45	75	chr15	88859079	.	C	T	1612.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.772;DP=609;ExcessHet=0;FS=1.261;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=1.07;SOR=0.574	GT:AD:DP:GQ:PL	0/0:110,0:110:99:0,120,1800	6	0	1	0
chr15	88905757	88905757	C	T	exonic	MFGE8	.	nonsynonymous SNV	MFGE8:NM_001310319:exon4:c.G553A:p.G185R,MFGE8:NM_001114614:exon5:c.G685A:p.G229R,MFGE8:NM_001310321:exon5:c.G349A:p.G117R,MFGE8:NM_005928:exon5:c.G685A:p.G229R,MFGE8:NM_001310320:exon6:c.G661A:p.G221R	.	418	1089	15	0	0	15	0.00683995	1.0000	0.968	.	739851	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.643	0.422477141003	0.0005	0.00139776	0.0013	0	0.0007	0	0	0.0007	0.0044	0.0063	0.0011643	180	154602	rs148279922	0.0008	0.0008	0.0006	0.0009	0.0057	0.0007	0.0007	0.0053	0.0051	8.961e-05	0.0007	0.0051	0	0.0001	0.0019	0.0003	0.0012	0.0057	0.0006	0.0006	0.0006	0.0007	0.0060	0.0005	0.0005	0.0043	0.0037	4.812e-05	0	0.0002	0.0072	0.0004	0	0.0034	0.0005	0.0014	0.0060	0.001	0.91255	D	0.036	0.72224	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.047868	1	0.81001	D	2.795	0.81503	M	-1.71	0.83157	D	-5.98	0.91868	D	0.88	0.90590	0.388	0.88915	D	0.698	0.89602	D	9	0.053219825	0.05477	T	0.422477	0.93821	D	0.643	0.86435	0.485	0.56780	0.905101539505	0.90415	0.8869347806286604	0.88662	0.594357360814	0.54751	0.559940934181	0.47259	T	0.52122	0.83260	D	-0.163247	0.26262	T	-0.00479646	0.70024	D	0.137562387423378	0.16063	T	0.979702	0.93041	D	0.64230967	0.74954	0.5605565	0.74575	0.64230967	0.74956	0.5605565	0.74576	-5.191	0.45630	T	.	.	0.441	0.61765	A	.;.;.;.	.;.;.;.	5.264220	0.88388	29.6	0.99883229125342099	0.95892	0.95365	0.64436	D	AEFBHCI	0.962876	0.98460	D	0.664026003406121	0.77279	6.644366	0.584703430595167	0.73842	6.037225	1.0	0.98316	0.706548	0.73137	0	0.588015	0.36545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	7.696000	0.83499	7.595000	0.61372	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.043000	0.14563	0.0:1.0:0.0:0.0	17.818	0.88552	958	0.09170	Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002520	0.005051	0.002717	0.008772	0.000000	0.000000	0.000000	0.000000	0.07143	433.46	63	chr15	88905757	.	C	T	433.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.5;DP=242;ExcessHet=0;FS=2.379;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.88;ReadPosRankSum=-1.019;SOR=1.112	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1290	6	0	1	0
chr15	89625987	89625987	C	T	exonic	TICRR	.	nonsynonymous SNV	TICRR:NM_001308025:exon21:c.C5525T:p.A1842V,TICRR:NM_152259:exon21:c.C5528T:p.A1843V	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.0106186141955	.	0.000199681	0.0003	9.677e-05	0	0	0	0.0001	0.0036	0.0023	0.0002652	41	154602	rs200631269	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	2.293e-05	0	2.52e-05	0	0.0002	5.679e-05	0.0002	0.0027	0.0002	0.0002	6.426e-05	0.0002	0.0017	0.0001	8.713e-05	0.0008	0.0006	2.407e-05	0	0	0	0.0004	0	0	0.0002	0	0.0017	0.007	0.59928	D	0.015	0.61642	D	0.372	0.34134	B	0.15	0.34161	B	0.000358	0.45440	D	0.185868	0.998492	0.22118	N	0.69	0.16971	N	3.07	0.08547	T	-2.0	0.46146	N	0.264	0.36464	-0.9958	0.31082	T	0.018	0.07706	T	10	0.013040841	0.00278	T	0.010619	0.27366	T	0.135	0.36572	.	.	0.173771789658	0.16945	0.2409480580541644	0.24008	0.0405451585251	0.04348	0.395540475845	0.24447	T	0.008635	0.07919	T	-0.458323	0.01007	T	-0.436053	0.29251	T	0.101585156083369	0.12530	T	0.744825	0.36507	T	0.09909967	0.23382	0.14718981	0.34843	0.09909967	0.23382	0.14718981	0.34842	-4.4	0.29557	T	.	.	0.219	0.48644	B	.;.	.;.	2.745663	0.35978	20.1	0.99498007841945357	0.67859	0.83755	0.42852	D	AEFDBCI	0.418418	0.48606	N	-0.358343481768235	0.26967	1.475886	-0.297396675806421	0.28183	1.569409	0.999240081121059	0.38873	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.89	3.97	0.45241	4.743000	0.61805	8.374000	0.77054	-0.184000	0.09925	0.996000	0.39380	1.000000	0.68203	0.952000	0.50033	0.0:0.1612:0.8388:0.0	13.802	0.62697	859	0.33891	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	472.63	51	chr15	89625987	.	C	T	472.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.78;DP=229;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=0.057;SOR=0.846	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1357	6	0	1	0
chr15	89671528	89671528	T	C	exonic	PLIN1	.	nonsynonymous SNV	PLIN1:NM_001145311:exon4:c.A287G:p.D96G,PLIN1:NM_002666:exon4:c.A287G:p.D96G	Lipodystrophy, familial partial, type 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.0437116910355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000005	0.62929	D	0.059248	0.999928	0.51308	D	2.75	0.80375	M	2.17	0.19020	T	-6.75	0.92692	D	0.95	0.96072	-0.7650	0.57132	T	0.168	0.50826	T	10	0.98630583	0.98933	D	0.043712	0.61125	D	0.533	0.80367	0.914	0.98346	0.544346501278	0.54089	0.8301276384854474	0.82971	0.212678932647	0.23774	0.566177964211	0.48138	T	0.44175	0.78617	T	0.182336	0.72258	D	0.0241371	0.71898	D	0.997230350971222	0.91078	D	0.894111	0.63286	D	0.7173468	0.79014	0.7448737	0.84919	0.7173468	0.79016	0.7448737	0.84920	-10.554	0.77157	D	0.5690526348577978	0.63634	0.853	0.79943	P	.;.	.;.	5.197633	0.87191	29.2	0.99871148950294142	0.94902	0.96208	0.68031	D	AEFDBI	0.866661	0.78617	D	0.835051758871193	0.88241	9.505041	0.79769892038165	0.89631	10.05605	0.999999983101578	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.79	5.79	0.91751	5.681000	0.67839	7.792000	0.68917	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	14.946	0.70678	859	0.33891	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr15	89671528	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=226;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	1	0	0
chr15	89750804	89750804	C	G	exonic	MESP1	.	nonsynonymous SNV	MESP1:NM_018670:exon1:c.G428C:p.S143T	.	2	1512	8	0	0	8	0.00263852	.	.	.	2215159	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.361	0.917779478836	.	.	0.0001	0	0.0002	0	0	0.0001	0	0.0002	3.88e-05	6	154602	rs774948264	3.129e-05	3.147e-05	2.164e-05	4.112e-05	0.0009	2.358e-05	2.095e-05	0.0004	0.0002	6.995e-05	2.819e-05	0	0	0	0.0009	1.395e-05	0.0001	0.0002	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.048	0.40068	D	0.135	0.34124	T	0.982	0.60036	D	0.715	0.54683	P	0.001964	0.37549	U	0.000000	0.989031	0.40874	D	2.25	0.63811	M	-2.34	0.87989	D	-2.16	0.48850	N	0.208	0.23125	0.148	0.85018	D	0.619	0.86564	D	10	0.34192705	0.51234	T	0.917779	0.99392	D	0.361	0.68141	0.299	0.26522	0.643574497599	0.64062	0.3003245447234037	0.29945	1.21140750543	0.80846	0.873099029064	0.93008	D	0.266031	0.63794	T	-0.293922	0.09245	T	-0.375261	0.36275	T	0.484813511371613	0.32074	T	0.754325	0.37688	T	0.18588448	0.39971	0.3103691	0.57048	0.18588448	0.39970	0.3103691	0.57047	-7.115	0.54868	T	.	.	0.177	0.38658	B	.	.	3.702285	0.52811	23.3	0.98726296014014636	0.45274	0.94709	0.62060	D	ALL	0.454446	0.50715	N	0.157678953827229	0.49176	3.120946	0.0473142027856109	0.41941	2.528388	0.999999999999997	0.74766	0.437478	0.07067	0	0.218748	0.04544	0	0.606814	0.37721	0	0.618803	0.45993	0	.	.	3.04	3.04	0.34171	-0.259000	0.08742	4.075000	0.41695	0.452000	0.21348	0.000000	0.06391	1.000000	0.68203	0.550000	0.30174	0.0:0.8726:0.0:0.1274	7.409	0.26180	610	0.67008	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002033	0.000000	0.001362	0.002924	0.000000	0.000000	0.003125	0.003788	0.07143	789.44	39	chr15	89750804	.	C	G	789.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.866;DP=302;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.74;ReadPosRankSum=0.249;SOR=0.776	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	6	0	1	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	5841.52	24	chr15	89776903	.	AGGGCAGGGGCAG	*	5841.52	.	AC=4;AF=0.286;AN=14;DP=222;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.286;MQ=60;QD=30.58;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,15:24:99:1|0:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:1022,376,326:89776889	4	1	2	0
chr15	89792255	89792256	GA	-	exonic	ANPEP	.	frameshift deletion	ANPEP:NM_001381924:exon17:c.2432_2433del:p.F811Cfs*13,ANPEP:NM_001150:exon18:c.2432_2433del:p.F811Cfs*13,ANPEP:NM_001381923:exon18:c.2432_2433del:p.F811Cfs*13	.	407	1114	1	0	0	1	0.000448632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1168.41	51	chr15	89792254	.	CGA	C	1168.41	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.72;DP=320;ExcessHet=0;FS=2.282;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.24;ReadPosRankSum=-1.006;SOR=0.655	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr15	89908409	89908409	G	A	exonic	ARPIN;ARPIN-AP3S2	.	nonsynonymous SNV	ARPIN-AP3S2:NM_001199058:exon3:c.C172T:p.R58C,ARPIN:NM_182616:exon3:c.C172T:p.R58C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597	0.196729990442	.	0.000599042	8.3e-05	0.0006	0	0	0.0002	4.503e-05	0	0	8.41e-05	13	154602	rs547565411	3.626e-05	3.694e-05	3.677e-05	3.576e-05	0.0003	2.829e-05	2.565e-05	0.0002	0.0001	0.0003	4.473e-05	0	0	0.0002	0	2.248e-05	1.656e-05	2.319e-05	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	8.737e-05	0.0003	0.0002	0.0004	0	0.0001	0	0	0.0002	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000280	0.46590	U	0.147583	1	0.81001	D	2.61	0.76335	M	0.06	0.61798	T	-3.53	0.94899	D	0.83	0.83269	-0.1901	0.77925	T	0.403	0.75359	T	10	0.47919834	0.60328	T	0.19673	0.86496	D	0.597	0.84019	.	.	0.64498588999	0.64204	0.8381120291831355	0.83771	0.39151772003	0.44160	.	.	.	0.447229	0.78957	T	0.0896035	0.63145	D	0.248417	0.85547	D	0.557086169719696	0.34745	D	0.940673	0.77758	D	0.7505056	0.80897	0.43676755	0.67118	0.7505056	0.80899	0.43676755	0.67119	-4.986	0.36687	T	.	.	0.252	0.48675	B	.;.	.;.	5.390253	0.90303	31	0.9993557600838332	0.99579	0.94386	0.61000	D	AEFDBI	0.764282	0.70112	D	0.379125321193932	0.60291	4.216594	0.407945291475246	0.62057	4.415152	0.99996337643745	0.48965	0.706548	0.73137	0	0.573888	0.26702	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.58	4.67	0.58089	5.982000	0.70215	8.603000	0.77736	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0828:0.0:0.9172:0.0	12.218	0.53725	772	0.48957	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2068.46	36	chr15	89908409	.	G	A	2068.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.701;DP=339;ExcessHet=0;FS=3.046;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=-2.166;SOR=0.996	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	6	0	1	0
chr15	90231459	90231459	C	T	exonic	CIB1	.	nonsynonymous SNV	CIB1:NM_001277764:exon4:c.G364A:p.A122T,CIB1:NM_006384:exon4:c.G244A:p.A82T	.	421	1097	4	0	0	4	0.00181984	.	.	YES	1157572	not_provided|CIB1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.098	.	.	0.00519169	0.0035	0	0.0003	0.0002	0	0	0.0011	0.0250	0.0029624	458	154602	rs562237879	0.0015	0.0015	0.0008	0.0022	0.0240	0.0015	0.0014	0.0232	0.0228	2.987e-05	2.236e-05	0	0	0	0.0019	1.439e-05	0.0018	0.0240	0.0008	0.0008	0.0003	0.0013	0.0250	0.0007	0.0007	0.0214	0.0200	0	0	6.536e-05	0	0.0002	0	0	1.47e-05	0.0005	0.0250	0.748	0.03609	T	0.439	0.13365	T	0.0	0.02946	B	0.0	0.01387	B	0.139973	0.02877	N	1.677480	1	0.08975	N	0	0.06538	N	2.96	0.09542	T	-0.08	0.08187	N	0.13	0.16447	-0.9823	0.34468	T	0.018	0.07565	T	10	0.0018526614	0.00025	T	.	.	.	0.098	0.28162	0.27	0.21893	0.104622674875	0.10061	0.2278705604284973	0.22702	0.155556298816	0.17554	0.26748585701	0.05815	T	0.134338	0.46552	T	-0.773564	0.00012	T	-0.865694	0.00784	T	0.0076744546124589	0.00089	T	0.148285	0.01234	T	0.10853205	0.25661	0.092734426	0.21870	0.10853205	0.25661	0.092734426	0.21869	-3.041	0.11022	T	.	.	0.067	0.02488	B	.;.	.;.	0.042038	0.04581	1.258	0.84514030562110309	0.15336	0.03839	0.09189	N	ALL	0.106545	0.21255	N	-1.43471751007714	0.02340	0.1031962	-1.46088107625463	0.02673	0.1233793	0.999999960542485	0.74766	0.706548	0.73137	0	0.52208	0.09955	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	4.63	-4.86	0.02902	-3.285000	0.00583	-0.717000	0.07722	-0.751000	0.03586	0.000000	0.06391	0.000000	0.08366	0.842000	0.39752	0.0:0.5997:0.0:0.4003	15.273	0.73416	587	0.69154	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.011364	0.1429	1019.23	33	chr15	90231459	.	C	T	1019.23	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.229;DP=292;ExcessHet=0.3476;FS=0.753;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=-0.167;SOR=0.581	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	5	0	2	0
chr15	90241939	90241939	C	A	exonic	GDPGP1	.	nonsynonymous SNV	GDPGP1:NM_001013657:exon4:c.C1031A:p.S344Y,GDPGP1:NM_001322811:exon5:c.C1031A:p.S344Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0111880557222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.032	0.53426	D	0.944	0.53183	P	0.346	0.42645	B	0.252300	0.15484	N	0.650464	1	0.08975	N	0.97	0.24054	L	1.9	0.23486	T	-1.86	0.43524	N	0.07	0.17553	-1.0805	0.07252	T	0.049	0.20987	T	10	0.12621921	0.23992	T	0.011188	0.28559	T	0.095	0.27398	0.295	0.25881	0.446211707333	0.44242	0.41330702771968775	0.41246	0.166143637461	0.18748	0.403835475445	0.25603	T	0.004105	0.03512	T	-0.274873	0.11219	T	-0.632612	0.10218	T	0.320634514093399	0.25847	T	0.545245	0.18642	T	0.10851316	0.25656	0.14394501	0.34191	0.10851316	0.25656	0.14394501	0.34190	-3.683	0.19067	T	.	.	0.117	0.24123	B	.;.	.;.	2.690261	0.35117	19.81	0.96909066723612647	0.31570	0.08238	0.14193	N	ALL	0.048419	0.08261	N	-0.23008563545875	0.31905	1.79376	-0.29823918645016	0.28157	1.56769	0.999999923805319	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.62	4.7	0.58776	1.488000	0.35160	2.703000	0.34176	0.599000	0.40250	0.001000	0.13787	0.031000	0.21272	0.215000	0.22324	0.326:0.674:0.0:0.0	11.524	0.49818	662	0.61715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	41	chr15	90241939	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=234;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	1	0	0
chr15	90880119	90880119	C	T	exonic	FURIN	.	nonsynonymous SNV	FURIN:NM_001289823:exon13:c.C1402T:p.R468W,FURIN:NM_001289824:exon13:c.C1402T:p.R468W,FURIN:NM_001382619:exon13:c.C1402T:p.R468W,FURIN:NM_001382620:exon13:c.C1402T:p.R468W,FURIN:NM_001382621:exon13:c.C1402T:p.R468W,FURIN:NM_001382622:exon13:c.C1402T:p.R468W,FURIN:NM_002569:exon13:c.C1402T:p.R468W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.0961642448343	.	.	3.49e-05	0	8.856e-05	0	0	0	0	0.0002	3.23e-05	5	154602	rs769249196	3.848e-05	4.31e-05	2.322e-05	5.395e-05	0.0004	3.039e-05	2.732e-05	0.0003	0.0003	2.993e-05	2.248e-05	0	0	0	0	1.354e-05	3.333e-05	0.0004	8.533e-05	8.53e-05	6.422e-05	0.0001	0.0012	4.952e-05	3.959e-05	0.0005	0.0004	0.0001	0	6.532e-05	0	0	0	0	1.47e-05	0	0.0012	0.002	0.72154	D	0.005	0.72224	D	0.998	0.73220	D	0.702	0.54226	P	0.000477	0.44119	D	0.226096	0.999941	0.51968	D	2.31	0.66127	M	-0.09	0.64086	T	-3.43	0.67359	D	0.64	0.65245	-0.4471	0.70496	T	0.288	0.65968	T	10	0.5989487	0.66802	D	0.096164	0.76556	D	0.242	0.54781	0.36	0.36385	0.546836033694	0.54339	0.6301387406934317	0.62947	0.348214224296	0.36698	0.419131785631	0.27718	T	0.842852	0.96351	D	-0.172699	0.24828	T	-0.167773	0.57646	T	0.441896559049967	0.30499	T	0.835616	0.50622	T	0.42285648	0.62281	0.23213987	0.48365	0.42285648	0.62282	0.23213987	0.48364	-7.895	0.60352	D	.	.	0.184	0.40810	B	.;.;.	.;.;.	5.152486	0.86305	28.9	0.99902109959688346	0.97350	0.91280	0.53216	D	AEFDGBHCI	0.890052	0.82471	D	0.395836189187936	0.61194	4.317479	0.34426762179504	0.58164	3.985303	0.999999976748108	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.65	4.65	0.57626	3.249000	0.51138	5.916000	0.51093	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.614000	0.31742	0.1632:0.8368:0.0:0.0	12.827	0.57110	697	0.58201	P domain;P domain;P domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1371.44	33	chr15	90880119	.	C	T	1371.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.864;DP=301;ExcessHet=0;FS=2.363;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.36;SOR=0.888	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1290	6	0	1	0
chr15	90953279	90953279	G	A	exonic	UNC45A	.	nonsynonymous SNV	UNC45A:NM_001323620:exon19:c.G2111A:p.R704Q,UNC45A:NM_001323621:exon19:c.G2501A:p.R834Q,UNC45A:NM_018671:exon19:c.G2546A:p.R849Q,UNC45A:NM_001323619:exon20:c.G2546A:p.R849Q,UNC45A:NM_001039675:exon22:c.G2501A:p.R834Q	.	417	1104	1	0	0	1	0.000452694	.	.	.	2347454	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.00749462576477	.	0.000199681	8.42e-05	0	0	0	0	1.52e-05	0	0.0006	7.12e-05	11	154602	rs561364913	5.89e-05	5.883e-05	3.543e-05	8.261e-05	0.0007	4.882e-05	4.501e-05	0.0006	0.0005	0	0	0	0	0	0	1.619e-05	8.287e-05	0.0007	1.313e-05	1.312e-05	0	2.685e-05	0.0002	2.18e-06	8.2e-07	.	.	2.406e-05	0	0	0	0	0	0	0	0	0.0002	0.487	0.08067	T	0.702	0.05707	T	0.0	0.02946	B	0.0	0.01387	B	0.389890	0.13270	N	0.737741	0.929476	0.27095	N	-1.5	0.00507	N	0.84	0.47477	T	0.72	0.02099	N	0.217	0.24634	-1.0268	0.21494	T	0.030	0.12760	T	10	0.023026586	0.00591	T	0.007495	0.19872	T	0.075	0.21907	0.394	0.41935	0.355865052028	0.35192	0.05851888172700229	0.05792	0.149300499438	0.16836	0.396927118301	0.24642	T	0.02301	0.17639	T	-0.526378	0.00404	T	-0.629719	0.10436	T	0.053184015274744	0.06051	T	0.845015	0.52723	T	0.019146184	0.00440	0.029913332	0.01383	0.019146184	0.00440	0.029913332	0.01383	-5.782	0.47525	T	.	.	0.092	0.15206	B	.;.;.	.;.;.	2.683102	0.35009	19.78	0.98831589925511809	0.46969	0.56248	0.30069	D	AEFDGBCI	0.196730	0.32369	N	-0.5667419043012	0.19962	1.048814	-0.287084821492515	0.28523	1.591034	0.999995080926087	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.57	3.44	0.38486	1.689000	0.37319	5.362000	0.48403	0.669000	0.69127	0.921000	0.31989	1.000000	0.68203	0.873000	0.41610	0.3297:0.0:0.3645:0.3058	3.251	0.06413	529	0.73716	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	987.83	34	chr15	90953279	.	G	A	987.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.2;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=1.72;SOR=0.723	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr15	91005103	91005103	G	C	exonic	VPS33B	.	nonsynonymous SNV	VPS33B:NM_001289148:exon14:c.C1041G:p.F347L,VPS33B:NM_001289149:exon14:c.C849G:p.F283L,VPS33B:NM_018668:exon15:c.C1122G:p.F374L	Arthrogryposis, renal dysfunction, and cholestasis 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409	0.0260435819066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.851	0.03497	T	0.055	0.22733	B	0.039	0.23986	B	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	1.04	0.26193	L	-0.89	0.74793	T	0.32	0.04306	N	0.642	0.66101	-0.9698	0.37242	T	0.173	0.51595	T	10	0.53202784	0.63238	D	0.026044	0.48985	D	0.409	0.72099	0.647	0.78436	0.584859779323	0.58159	0.46447104781845744	0.46366	0.203462743921	0.22764	0.769844174385	0.77402	T	0.174941	0.52435	T	0.277815	0.81127	D	0.161286	0.80884	D	0.491662442684174	0.32325	T	0.939506	0.77228	D	0.06559569	0.14035	0.06052036	0.11539	0.06559569	0.14035	0.06052036	0.11538	-6.388	0.49416	T	0.3420899351597581	0.43979	0.869	0.80838	P	.;.	.;.	2.047437	0.26028	16.97	0.94572385614005527	0.25108	0.93318	0.57896	D	AEFDGBI	0.282867	0.39610	N	-0.516704663467983	0.21539	1.143873	-0.340267695366155	0.26811	1.48343	0.999999331737377	0.74766	0.732398	0.92422	0	0.697927	0.68747	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.04	4.17	0.48303	2.173000	0.42099	3.412000	0.38196	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.283000	0.24091	0.287:0.0:0.713:0.0	7.769	0.28160	432	0.80690	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1010.27	35	chr15	91005103	.	G	C	1010.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.418;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=0.108;SOR=0.644	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1191	5	0	1	1
chr15	91226325	91226325	G	A	exonic	SV2B	.	nonsynonymous SNV	SV2B:NM_001323031:exon2:c.G62A:p.R21H,SV2B:NM_001323032:exon2:c.G62A:p.R21H,SV2B:NM_001323033:exon2:c.G62A:p.R21H,SV2B:NM_001323034:exon2:c.G62A:p.R21H,SV2B:NM_001323038:exon2:c.G62A:p.R21H,SV2B:NM_001323039:exon2:c.G62A:p.R21H,SV2B:NM_001323037:exon3:c.G62A:p.R21H,SV2B:NM_014848:exon3:c.G62A:p.R21H	.	411	1109	2	0	0	2	0.000900901	.	.	.	3323849	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.00444705977779	.	.	9.89e-05	0	0	0.0007	0	1.499e-05	0	0.0003	7.76e-05	12	154602	rs753020617	5.472e-05	5.472e-05	3.403e-05	7.563e-05	0.0006	4.477e-05	4.147e-05	0.0005	0.0004	5.974e-05	0	0	0.0004	0	0	6.295e-06	8.279e-05	0.0006	1.314e-05	1.312e-05	0	2.686e-05	0.0004	2.18e-06	8.2e-07	7.312e-05	3.037e-05	0	0	0	0	0	0	0	0	0	0.0004	0.024	0.47745	D	0.116	0.36497	T	0.001	0.07471	B	0.002	0.06944	B	0.001909	0.37691	N	0.265891	0.921838	0.81001	D	1.83	0.48079	L	1.29	0.35775	T	-0.71	0.20145	N	0.119	0.11483	-1.0577	0.12337	T	0.072	0.29098	T	10	0.031678915	0.01306	T	0.004447	0.10906	T	0.035	0.08770	0.245	0.17984	0.147330786459	0.14319	0.2703326225367992	0.26946	0.354932647946	0.37257	0.323863536119	0.14005	T	0.09078	0.38657	T	-0.423274	0.01631	T	-0.515779	0.20724	T	0.0482736136039326	0.05193	T	0.752425	0.37456	T	0.07898492	0.18019	0.06567431	0.13346	0.07898492	0.18019	0.06567431	0.13345	-3.649	0.18568	T	.	.	0.068	0.02670	B	.;.	.;.	1.627520	0.20784	14.91	0.99778924249942935	0.86606	0.90771	0.52229	D	AEFBI	0.309154	0.41554	N	-0.304548992420756	0.28974	1.602751	-0.168668265875852	0.32696	1.862772	3.21063580831155E-4	0.06498	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.71	3.81	0.43020	0.996000	0.29320	0.749000	0.21222	0.676000	0.76740	0.167000	0.23894	0.033000	0.21346	0.952000	0.50033	0.0741:0.1358:0.7901:0.0	10.359	0.43163	777	0.48198	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1038.44	33	chr15	91226325	.	G	A	1038.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.339;DP=277;ExcessHet=0;FS=0.798;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-0.431;SOR=0.563	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1296	6	0	1	0
chr15	91251894	91251894	G	A	exonic	SV2B	.	nonsynonymous SNV	SV2B:NM_001167580:exon2:c.G74A:p.R25Q,SV2B:NM_001323036:exon2:c.G98A:p.R33Q,SV2B:NM_001323031:exon3:c.G527A:p.R176Q,SV2B:NM_001323032:exon3:c.G527A:p.R176Q,SV2B:NM_001323034:exon3:c.G527A:p.R176Q,SV2B:NM_001323038:exon3:c.G527A:p.R176Q,SV2B:NM_001323039:exon3:c.G527A:p.R176Q,SV2B:NM_001323040:exon3:c.G74A:p.R25Q,SV2B:NM_001323037:exon4:c.G527A:p.R176Q,SV2B:NM_014848:exon4:c.G527A:p.R176Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	.	0.00599042	0.0022	0.0002	8.642e-05	0.0294	0	0	0.0022	0.0002	0.0022121	342	154602	rs79725910	0.0007	0.0007	0.0007	0.0007	0.0212	0.0007	0.0007	0.0200	0.0195	0.0002	0.0001	0	0.0212	0	0	1.259e-05	0.0028	0.0004	0.0011	0.0011	0.0011	0.0012	0.0294	0.0010	0.0009	0.0256	0.0241	0.0002	0	0.0001	0	0.0294	0	0	4.411e-05	0.0005	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.003	0.08700	B	0.000037	0.55875	D	0.148800	0.984135	0.24826	N	0.085	0.08345	N	0.08	0.61559	T	-0.03	0.07444	N	0.106	0.09349	-1.0555	0.12908	T	0.021	0.08870	T	10	0.0046218336	0.00096	T	.	.	.	0.066	0.19193	.	.	0.0675242888579	0.06100	0.19944590590312744	0.19861	0.330876529916	0.35168	0.296148091555	0.09829	T	0.179853	0.53099	T	-0.542084	0.00326	T	-0.524282	0.19861	T	0.0103071279597595	0.00140	T	0.775622	0.40781	T	0.04940306	0.08766	0.060611226	0.11570	0.04940306	0.08766	0.060611226	0.11569	-5.304	0.39983	T	.	.	0.078	0.07036	B	.;.;.	.;.;.	1.870664	0.23763	16.14	0.58755493715466101	0.06065	0.48323	0.28181	N	AEFBI	0.139943	0.26171	N	-0.555523857857299	0.20311	1.069767	-0.329930548325449	0.27136	1.503726	0.00981764391535163	0.11918	0.625279	0.40028	0	0.60822	0.50512	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.38	1.94	0.25058	3.104000	0.49998	3.685000	0.39479	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.5138:0.0:0.4862:0.0	5.563	0.16441	809	0.43032	.;Sugar transporter, conserved site|Major facilitator superfamily domain|Major facilitator superfamily domain;Sugar transporter, conserved site|Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	642.83	37	chr15	91251894	.	G	A	642.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.22;DP=218;ExcessHet=0;FS=1.026;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-0.236;SOR=0.649	GT:AD:DP:GQ:PL	0/1:28,27:55:99:653,0,610	6	0	1	0
chr15	92630242	92630242	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G448C:p.D150H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.073062026662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0016	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0	3.865e-05	0	0	0.0002	0.0002	8.467e-05	9.359e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	0.999	0.77913	D	0.966	0.71341	D	0.000026	0.55875	D	0.067157	0.873479	0.54805	D	2.415	0.69758	M	-0.29	0.67712	T	-6.37	0.91058	D	0.842	0.83781	-0.1468	0.78995	T	0.392	0.74554	T	10	0.8345976	0.82617	D	0.073062	0.71693	D	0.547	0.81193	0.638	0.77470	0.411401001288	0.40751	0.7881159167461645	0.78763	1.26599244295	0.82158	0.709424495697	0.68509	T	0.284843	0.65763	T	0.152206	0.69474	D	-0.0191427	0.69085	D	0.991113245487213	0.81371	D	0.873813	0.58316	D	0.7585243	0.81366	0.70495456	0.82608	0.7585243	0.81367	0.70495456	0.82609	-14.968	0.95777	D	.	.	0.987	0.92764	P	.	.	5.202349	0.87272	29.2	0.94001699280494422	0.24097	0.88850	0.48980	D	AEFGBHCI	0.899320	0.84358	D	0.493323972852971	0.66696	4.983993	0.544622876438528	0.71025	5.592279	1.0	0.98316	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.31	5.31	0.75063	7.180000	0.77215	7.433000	0.58809	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:1.0:0.0:0.0	17.723	0.88265	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	217.03	37	chr15	92630242	.	C	G	217.03	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-0.871;DP=404;ExcessHet=0;FS=137.217;MLEAC=2;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.05;ReadPosRankSum=-0.683;SOR=6.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,17:106:99:0|1:92630242_C_G:222,0,3604:92630242	1	0	1	5
chr15	92630245	92630245	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G445C:p.E149Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.0228964332442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.017	0.60337	D	1.0	0.90584	D	0.99	0.78936	D	0.000043	0.53742	D	0.070627	0.664441	0.44502	D	2.095	0.58118	M	0.75	0.50192	T	-2.73	0.58085	D	0.569	0.59223	-0.2273	0.76958	T	0.332	0.69960	T	10	0.60730934	0.67247	D	0.022896	0.45827	T	0.215	0.50805	0.404	0.43573	0.0401082797425	0.02173	0.4675481303851458	0.46673	1.15860135375	0.79410	0.565466284752	0.48038	T	0.190896	0.54557	T	-0.046153	0.45029	T	-0.304072	0.44293	T	0.961356455792854	0.66059	D	0.911409	0.68582	D	0.33561563	0.55928	0.20909509	0.45240	0.33561563	0.55928	0.20909509	0.45239	-8.763	0.66158	D	.	.	0.729	0.74160	P	.	.	4.587400	0.72525	25.8	0.98463620350359216	0.41768	0.88917	0.49082	D	AEFGBHCI	0.859421	0.77710	D	0.492419084689025	0.66645	4.977127	0.550374849278894	0.71422	5.652677	1.0	0.98316	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	5.38	0.77279	7.180000	0.77215	5.752000	0.49633	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	17.872	0.88730	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	206.94	83	chr15	92630245	.	C	G	206.94	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.51;DP=528;ExcessHet=0;FS=102.612;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.99;ReadPosRankSum=-0.033;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,16:104:99:0|1:92630242_C_G:217,0,3600:92630242	6	0	1	0
chr15	92630248	92630248	C	T	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G442A:p.D148N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407	0.0913275477417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.01	0.65728	D	0.999	0.77913	D	0.947	0.68407	D	0.000043	0.53742	D	0.070627	0.999355	0.81001	D	2.31	0.66127	M	0.39	0.57419	T	-4.12	0.75058	D	0.534	0.56231	-0.3962	0.72147	T	0.326	0.69444	T	10	0.60254693	0.66994	D	0.091328	0.75686	D	0.407	0.71946	0.583	0.70990	0.151104730317	0.14643	0.41635049519125117	0.41551	1.12360715339	0.78375	0.545847058296	0.45272	T	0.114192	0.43181	T	-0.0623556	0.42538	T	-0.327346	0.41764	T	0.995471358299255	0.87491	D	0.927207	0.73169	D	0.35433072	0.57402	0.31345323	0.57342	0.35433072	0.57402	0.31345323	0.57342	-10.471	0.76680	D	.	.	0.398	0.59438	A	.	.	4.925539	0.81165	27.5	0.99908419552125816	0.97875	0.86277	0.45526	D	AEFGBHCI	0.827818	0.74703	D	0.772525691349194	0.84361	8.266581	0.754799879812385	0.86515	8.914029	1.0	0.98316	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	5.38	0.77279	7.180000	0.77215	7.433000	0.58809	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	17.872	0.88730	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	197.36	57	chr15	92630248	.	C	T	197.36	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-2.606;DP=417;ExcessHet=0;FS=98.559;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.88;ReadPosRankSum=-0.126;SOR=5.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,15:105:99:0|1:92630242_C_G:204,0,3687:92630242	2	0	1	4
chr15	92630251	92630251	C	T	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G439A:p.E147K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0657453982676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.014	0.62352	D	0.939	0.52645	P	0.579	0.50152	P	0.000897	0.41231	D	0.159409	0.663107	0.52396	D	2.215	0.62545	M	0.5	0.55608	T	-3.36	0.66549	D	0.567	0.59053	-0.2870	0.75348	T	0.317	0.68629	T	10	0.6110569	0.67446	D	0.065745	0.69670	D	0.249	0.55752	0.538	0.64874	0.0806252709748	0.07271	0.5044295358613299	0.50364	1.13977541105	0.78881	0.576099395752	0.49536	T	0.072488	0.34467	T	0.00226496	0.51966	T	-0.234523	0.51332	T	0.989400923252106	0.79642	D	0.931007	0.74365	D	0.3660051	0.58288	0.32321736	0.58255	0.3660051	0.58289	0.32321736	0.58254	-12.163	0.85636	D	.	.	0.540	0.66364	A	.	.	5.085761	0.84900	28.4	0.98668534088134341	0.44442	0.86267	0.45514	D	AEFGBHCI	0.824876	0.74468	D	0.469250708575804	0.65304	4.805603	0.532037325251832	0.70157	5.464143	1.0	0.98316	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	5.38	0.77279	7.180000	0.77215	7.433000	0.58809	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	17.872	0.88730	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	187.52	40	chr15	92630251	.	C	T	187.52	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.703;DP=420;ExcessHet=0;FS=99.878;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.75;ReadPosRankSum=0.415;SOR=5.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,15:107:99:0|1:92630242_C_G:198,0,3754:92630242	6	0	1	0
chr15	92630254	92630254	C	T	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G436A:p.D146N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0239686996981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.026	0.55759	D	0.997	0.70673	D	0.918	0.65394	D	0.000036	0.55875	D	0.068504	0.997075	0.43612	D	2.31	0.66127	M	-0.25	0.67011	T	-3.85	0.72353	D	0.644	0.65587	-0.8108	0.54502	T	0.217	0.57902	T	10	0.70807624	0.72866	D	0.023969	0.46950	T	0.333	0.65522	0.492	0.57890	0.126345400529	0.12197	0.6364352983231589	0.63577	1.12360715339	0.78375	0.610536158085	0.54391	T	0.171364	0.51947	T	-0.00291733	0.51252	T	-0.241967	0.50606	T	0.994988739490509	0.86633	D	0.926807	0.73035	D	0.28633583	0.51650	0.23901767	0.49240	0.28633583	0.51650	0.23901767	0.49239	-7.127	0.54955	T	.	.	0.244	0.47859	B	.	.	4.708179	0.75603	26.4	0.98500546622593532	0.42216	0.79868	0.39664	D	AEFGBHCI	0.699485	0.65681	D	0.424550699294709	0.62776	4.499147	0.479078087077324	0.66606	4.973943	0.99999999999994	0.74766	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	5.38	0.77279	5.330000	0.65675	5.751000	0.49627	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.1627:0.8373:0.0:0.0	12.920	0.57621	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	149.63	40	chr15	92630254	.	C	T	149.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.326;DP=370;ExcessHet=0;FS=88.426;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=0.735;SOR=5.278	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,13:105:99:0|1:92630242_C_G:160,0,3760:92630242	6	0	1	0
chr15	94470347	94470347	C	T	exonic	MCTP2	.	nonsynonymous SNV	MCTP2:NM_001385010:exon18:c.C1712T:p.T571M,MCTP2:NM_001385004:exon19:c.C2210T:p.T737M,MCTP2:NM_001159643:exon20:c.C2210T:p.T737M,MCTP2:NM_001385005:exon20:c.C2333T:p.T778M,MCTP2:NM_001385006:exon20:c.C2252T:p.T751M,MCTP2:NM_001385009:exon20:c.C1877T:p.T626M,MCTP2:NM_001385001:exon21:c.C2375T:p.T792M,MCTP2:NM_001385003:exon21:c.C2375T:p.T792M,MCTP2:NM_001385002:exon22:c.C2375T:p.T792M,MCTP2:NM_018349:exon22:c.C2375T:p.T792M,MCTP2:NM_001385007:exon23:c.C2093T:p.T698M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	0.0912683341171	.	.	4.119e-05	0	8.642e-05	0.0001	0	4.496e-05	0	0	3.88e-05	6	154602	rs570221748	1.781e-05	2.052e-05	1.636e-05	1.927e-05	0.0002	1.239e-05	1.053e-05	2.996e-05	2.038e-05	0	4.473e-05	0	5.04e-05	0	0.0002	1.171e-05	3.315e-05	6.96e-05	1.972e-05	1.97e-05	0	4.036e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.94e-05	0	0	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.97	0.76916	D	0.000005	0.62929	D	0.109289	0.999969	0.52935	D	3.2	0.89116	M	-0.35	0.68616	T	-4.31	0.78222	D	0.684	0.72120	0.002	0.82291	D	0.484	0.80301	T	10	0.7336463	0.74470	D	0.091268	0.75675	D	0.443	0.74588	0.479	0.55823	0.53104733087	0.52752	0.6654961884117682	0.66486	0.154882509621	0.17493	0.616541564465	0.55240	T	0.287151	0.65995	T	0.0515494	0.58543	T	0.0619725	0.74375	D	0.893883228302002	0.54518	D	0.990041	0.96927	D	0.45788476	0.64539	0.5042652	0.71345	0.45788476	0.64540	0.5042652	0.71345	-11.019	0.84443	D	.	.	0.330	0.55208	B	.;.	.;.	4.740843	0.76452	26.5	0.99885545256151553	0.96049	0.97902	0.77993	D	AEFI	0.814661	0.73683	D	0.814074181744828	0.86979	9.06216	0.778680703644416	0.88275	9.521248	0.998610252336283	0.37309	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.32	5.32	0.75377	6.011000	0.70418	5.953000	0.51684	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.8573:0.1426:0.0	14.931	0.70561	970	0.06235	.;Phosphoribosyltransferase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	56.49	50	chr15	94470347	.	C	T	56.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.161;DP=254;ExcessHet=0;FS=15.721;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=1.09;SOR=3.911	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1163:.	6	0	1	0
chr15	94470351	94470354	CCCC	-	exonic	MCTP2	.	frameshift deletion	MCTP2:NM_001385010:exon18:c.1716_1719del:p.P573Sfs*8,MCTP2:NM_001385004:exon19:c.2214_2217del:p.P739Sfs*8,MCTP2:NM_001159643:exon20:c.2214_2217del:p.P739Sfs*8,MCTP2:NM_001385005:exon20:c.2337_2340del:p.P780Sfs*8,MCTP2:NM_001385006:exon20:c.2256_2259del:p.P753Sfs*8,MCTP2:NM_001385009:exon20:c.1881_1884del:p.P628Sfs*8,MCTP2:NM_001385001:exon21:c.2379_2382del:p.P794Sfs*8,MCTP2:NM_001385003:exon21:c.2379_2382del:p.P794Sfs*8,MCTP2:NM_001385002:exon22:c.2379_2382del:p.P794Sfs*8,MCTP2:NM_018349:exon22:c.2379_2382del:p.P794Sfs*8,MCTP2:NM_001385007:exon23:c.2097_2100del:p.P700Sfs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.439e-05	0.0003	1.5e-05	1.377e-05	2.32e-05	9.25e-06	7.85e-06	9.33e-06	7.63e-06	0	0	7.659e-05	0	0	0	1.532e-05	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	44.4	53	chr15	94470350	.	TCCCC	T	44.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.19;DP=264;ExcessHet=0;FS=15.961;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=0.398;SOR=3.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1163:.	6	0	1	0
chr15	94470355	94470355	-	GGGTTG	exonic	MCTP2	.	nonframeshift insertion	MCTP2:NM_001385010:exon18:c.1720_1721insGGGTTG:p.F574delinsWVV,MCTP2:NM_001385004:exon19:c.2218_2219insGGGTTG:p.F740delinsWVV,MCTP2:NM_001159643:exon20:c.2218_2219insGGGTTG:p.F740delinsWVV,MCTP2:NM_001385005:exon20:c.2341_2342insGGGTTG:p.F781delinsWVV,MCTP2:NM_001385006:exon20:c.2260_2261insGGGTTG:p.F754delinsWVV,MCTP2:NM_001385009:exon20:c.1885_1886insGGGTTG:p.F629delinsWVV,MCTP2:NM_001385001:exon21:c.2383_2384insGGGTTG:p.F795delinsWVV,MCTP2:NM_001385003:exon21:c.2383_2384insGGGTTG:p.F795delinsWVV,MCTP2:NM_001385002:exon22:c.2383_2384insGGGTTG:p.F795delinsWVV,MCTP2:NM_018349:exon22:c.2383_2384insGGGTTG:p.F795delinsWVV,MCTP2:NM_001385007:exon23:c.2101_2102insGGGTTG:p.F701delinsWVV	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	44.4	57	chr15	94470355	.	T	TGGGTTG	44.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.744;DP=464;ExcessHet=0;FS=15.961;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=0.395;SOR=3.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:125,0:125:99:.:.:0,120,1800:.	6	0	1	0
chr15	94470357	94470358	CC	-	exonic	MCTP2	.	frameshift deletion	MCTP2:NM_001385010:exon18:c.1722_1723del:p.L575Ffs*31,MCTP2:NM_001385004:exon19:c.2220_2221del:p.L741Ffs*31,MCTP2:NM_001159643:exon20:c.2220_2221del:p.L741Ffs*31,MCTP2:NM_001385005:exon20:c.2343_2344del:p.L782Ffs*31,MCTP2:NM_001385006:exon20:c.2262_2263del:p.L755Ffs*31,MCTP2:NM_001385009:exon20:c.1887_1888del:p.L630Ffs*31,MCTP2:NM_001385001:exon21:c.2385_2386del:p.L796Ffs*31,MCTP2:NM_001385003:exon21:c.2385_2386del:p.L796Ffs*31,MCTP2:NM_001385002:exon22:c.2385_2386del:p.L796Ffs*31,MCTP2:NM_018349:exon22:c.2385_2386del:p.L796Ffs*31,MCTP2:NM_001385007:exon23:c.2103_2104del:p.L702Ffs*31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	35.4	57	chr15	94470356	.	TCC	T	35.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.745;DP=467;ExcessHet=0;FS=16.001;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0.319;SOR=3.908	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:125,0:125:99:.:.:0,120,1800:.	6	0	1	0
chr15	94470362	94470362	C	T	exonic	MCTP2	.	nonsynonymous SNV	MCTP2:NM_001385010:exon18:c.C1727T:p.S576L,MCTP2:NM_001385004:exon19:c.C2225T:p.S742L,MCTP2:NM_001159643:exon20:c.C2225T:p.S742L,MCTP2:NM_001385005:exon20:c.C2348T:p.S783L,MCTP2:NM_001385006:exon20:c.C2267T:p.S756L,MCTP2:NM_001385009:exon20:c.C1892T:p.S631L,MCTP2:NM_001385001:exon21:c.C2390T:p.S797L,MCTP2:NM_001385003:exon21:c.C2390T:p.S797L,MCTP2:NM_001385002:exon22:c.C2390T:p.S797L,MCTP2:NM_018349:exon22:c.C2390T:p.S797L,MCTP2:NM_001385007:exon23:c.C2108T:p.S703L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.679	0.0935192924643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	1.368e-06	1.362e-06	0	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.984	0.90584	D	0.961	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.395	0.91620	M	-0.63	0.72011	T	-5.26	0.86527	D	0.943	0.95021	0.362	0.88524	D	0.614	0.86371	D	10	0.83966553	0.83120	D	0.093519	0.76087	D	0.679	0.88205	0.46	0.52753	0.531197343622	0.52768	0.9347453748121666	0.93454	0.150609652271	0.16984	0.655122160912	0.60713	T	0.29197	0.66471	T	0.367474	0.87836	D	0.290074	0.87680	D	0.997657656669617	0.92088	D	0.996511	0.98937	D	0.77550274	0.82379	0.7567695	0.85626	0.77550274	0.82380	0.7567695	0.85627	-13.558	0.91531	D	.	.	0.782	0.76452	P	.;.	.;.	4.649204	0.74094	26.1	0.99919068662769805	0.98586	0.98283	0.81242	D	AEFI	0.817186	0.73873	D	0.808613687701703	0.86641	8.951	0.7330101224514	0.84882	8.418209	0.99999999727962	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.32	5.32	0.75377	6.032000	0.70562	7.639000	0.63104	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.845000	0.39915	0.0:1.0:0.0:0.0	19.381	0.94526	970	0.06235	.;Phosphoribosyltransferase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	35.49	37	chr15	94470362	.	C	T	35.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.893;DP=270;ExcessHet=0;FS=16.001;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0.409;SOR=3.908	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,102,1530:.	6	0	1	0
chr15	97965937	97965937	G	C	exonic	ARRDC4	.	nonsynonymous SNV	ARRDC4:NM_183376:exon3:c.G417C:p.Q139H	.	423	1098	1	0	0	1	0.000455166	.	.	.	726368	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.057	0.00651340585483	0.0047	0.00179712	0.0036	0.0010	0.0010	0	0.0054	0.0056	0.0044	0	0.003868	598	154602	rs146146673	0.0047	0.0047	0.0049	0.0045	0.0058	0.0046	0.0046	0.0056	0.0056	0.0007	0.0008	0.0010	2.519e-05	0.0035	0.0007	0.0058	0.0036	4.637e-05	0.0033	0.0033	0.0036	0.0030	0.0059	0.0031	0.0030	0.0054	0.0052	0.0010	0	0.0010	0.0017	0	0.0036	0	0.0059	0.0019	0	0.009	0.57480	D	0.117	0.36365	T	0.427	0.35524	B	0.5	0.47649	P	0.005567	0.32687	N	0.265080	0.99572	0.42826	D	1.74	0.45129	L	3.22	0.07024	T	-1.32	0.32991	N	0.537	0.56489	-1.1189	0.02402	T	0.037	0.15813	T	10	0.01701042	0.00361	T	0.006513	0.17157	T	0.057	0.16321	0.655	0.79276	0.544652427739	0.54119	0.4867412342476924	0.48594	0.538836740373	0.51133	0.349693745375	0.17877	T	0.013036	0.11349	T	-0.485617	0.00687	T	-0.464359	0.26125	T	0.0310378783665963	0.02153	T	0.926307	0.72903	D	0.3294231	0.55424	0.36834344	0.62126	0.3294231	0.55424	0.36834344	0.62125	-4.349	0.28858	T	.	.	0.168	0.36966	B	.	.	3.494350	0.48858	22.7	0.99686995748811769	0.79641	0.77669	0.38215	D	AEFDGBCI	0.240938	0.36264	N	0.112348723098311	0.47038	2.935212	0.16562376460008	0.47975	3.019914	0.999974703553072	0.50053	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.44	3.12	0.34986	1.516000	0.35463	2.178000	0.31107	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.1284:0.2719:0.5996:0.0	8.079	0.29893	992	0.01359	Arrestin-like, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	103.44	33	chr15	97965937	.	G	C	103.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.282;DP=218;ExcessHet=0;FS=3.31;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.24;ReadPosRankSum=-0.524;SOR=0.105	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr15	99131992	99131992	C	T	exonic	SYNM	.	nonsynonymous SNV	SYNM:NM_145728:exon4:c.C3632T:p.S1211F	.	428	1078	15	1	0	17	0.00782329	.	.	.	726381	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.135	.	0.0051	0.00259585	0.0046	0.0017	0.0027	0	0.0018	0.0071	0.0056	0.0013	0.0046636	721	154602	rs137888307	0.0059	0.0059	0.0060	0.0059	0.0068	0.0058	0.0058	0.0066	0.0066	0.0008	0.0034	0.0065	0	0.0035	0.0050	0.0068	0.0062	0.0021	0.0046	0.0046	0.0049	0.0043	0.0075	0.0043	0.0042	0.0069	0.0067	0.0011	0	0.0044	0.0078	0	0.0031	0.0034	0.0075	0.0043	0.0019	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.29894	N	.	.	.	.	.	.	.	.	.	0.163	0.17140	-0.3162	0.74528	T	0.399	0.75073	T	8	0.004244417	0.00085	T	.	.	.	0.135	0.36572	.	.	0.159798565429	0.15598	0.21998109347136463	0.21914	0.183235020665	0.20612	0.30905264616	0.11764	T	.	.	.	-0.501345	0.00562	T	-0.483529	0.24072	T	0.0122539995941106	0.00198	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25721	B	.	.	2.152806	0.27425	17.46	0.99678428438013367	0.79108	0.41972	0.26775	N	AEFDBHCI	.	.	.	-0.70645215604051	0.15840	0.80187	-0.747553444104223	0.15782	0.831761	0.999999998910442	0.74766	0.651	0.46895	0	0.588066	0.40923	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.46	3.45	0.38602	0.781000	0.26435	1.148000	0.24458	0.599000	0.40250	0.000000	0.06391	0.007000	0.19602	0.002000	0.04165	0.0:0.8906:0.0:0.1094	10.178	0.42124	981	0.03995	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007772	0.005051	0.012228	0.003497	0.000000	0.000000	0.009146	0.003788	0.07143	414.49	38	chr15	99131992	.	C	T	414.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.929;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=1.43;SOR=0.527	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr15	99712531	99712539	GCAGCAGCC	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1050_1058del:p.Q351_P353del,MEF2A:NM_001130926:exon10:c.1254_1262del:p.Q419_P421del,MEF2A:NM_001130927:exon10:c.1074_1082del:p.Q359_P361del,MEF2A:NM_001365206:exon10:c.1272_1280del:p.Q425_P427del,MEF2A:NM_001365207:exon10:c.1260_1268del:p.Q421_P423del,MEF2A:NM_001352616:exon11:c.1278_1286del:p.Q427_P429del,MEF2A:NM_001352617:exon11:c.1260_1268del:p.Q421_P423del,MEF2A:NM_001352618:exon11:c.1272_1280del:p.Q425_P427del,MEF2A:NM_001365202:exon11:c.1296_1304del:p.Q433_P435del,MEF2A:NM_001365204:exon11:c.1284_1292del:p.Q429_P431del,MEF2A:NM_001365205:exon11:c.1278_1286del:p.Q427_P429del,MEF2A:NM_001365208:exon11:c.1254_1262del:p.Q419_P421del,MEF2A:NM_001365209:exon11:c.1074_1082del:p.Q359_P361del,MEF2A:NM_005587:exon11:c.1260_1268del:p.Q421_P423del,MEF2A:NM_001171894:exon12:c.1254_1262del:p.Q419_P421del,MEF2A:NM_001319206:exon12:c.1278_1286del:p.Q427_P429del,MEF2A:NM_001352614:exon12:c.1254_1262del:p.Q419_P421del,MEF2A:NM_001365201:exon12:c.1296_1304del:p.Q433_P435del,MEF2A:NM_001365203:exon12:c.1284_1292del:p.Q429_P431del,MEF2A:NM_001352615:exon13:c.1254_1262del:p.Q419_P421del	.	382	1132	6	0	2	8	0.00264317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1690	0.00559105	0.0053	0.0120	0.0140	0.0534	0.0055	0.0014	0.0094	0.0038	0.0011142	29	26028	rs560400205	0.0039	0.0038	0.0039	0.0039	0.0575	0.0038	0.0038	0.0554	0.0546	0.0094	0.0256	0.0035	0.0575	0.0061	0.0028	0.0010	0.0059	0.0043	0.0070	0.0071	0.0065	0.0076	0.0462	0.0067	0.0065	0.0413	0.0394	0.0091	0	0.0183	0.0032	0.0462	0.0044	0.0035	0.0011	0.0091	0.0051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1204.79	44	chr15	99712530	.	AGCAGCAGCC	A	1204.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.699;DP=376;ExcessHet=0;FS=0.859;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=0.622;SOR=0.727	GT:AD:DP:GQ:PL	0/1:42,36:78:99:1215,0,1479	6	0	1	0
chr15	101066723	101066723	G	A	exonic	LRRK1	.	nonsynonymous SNV	LRRK1:NM_024652:exon33:c.G5852A:p.R1951Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0307460432469	.	.	2.484e-05	0	0.0002	0	0	0	0	6.058e-05	1.94e-05	3	154602	rs777863487	1.573e-05	1.642e-05	1.906e-05	1.238e-05	0.0002	1.048e-05	8.75e-06	7.281e-05	5.161e-05	0	0.0002	7.652e-05	2.519e-05	3.745e-05	0	7.195e-06	1.656e-05	2.319e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	4.824e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	0	0	0	0.467	0.08559	T	0.331	0.18505	T	0.967	0.56408	D	0.203	0.37000	B	0.001107	0.40219	N	0.160603	0.995605	0.23248	N	1.5	0.37844	L	-0.69	0.72678	T	-0.19	0.09965	N	0.369	0.41063	-0.7103	0.59937	T	0.234	0.60075	T	10	0.20246765	0.36367	T	0.030746	0.52991	D	0.147	0.38986	0.363	0.36874	0.828067662937	0.82643	0.42654285092857946	0.42571	0.774646332818	0.64958	0.472289115191	0.34995	T	0.013022	0.11342	T	-0.197817	0.21119	T	-0.324956	0.42028	T	0.392703324556351	0.28667	T	0.948405	0.80130	D	0.07354744	0.16441	0.048213277	0.07112	0.07354744	0.16441	0.048213277	0.07112	-3.438	0.15573	T	.	.	0.087	0.11220	B	.	.	4.259989	0.64735	24.7	0.99920057114095628	0.98654	0.85681	0.44840	D	AEFDGBCI	0.345544	0.44066	N	0.261988190760621	0.54236	3.589545	0.319432046339398	0.56681	3.831949	0.999999970080553	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.608075	0.38828	0	0.727631	0.95156	0	.	.	5.51	5.51	0.81769	3.391000	0.52271	11.785000	0.96215	0.676000	0.76740	0.734000	0.28964	1.000000	0.68203	0.981000	0.58702	0.0:0.1366:0.8634:0.0	15.738	0.77624	869	0.31655	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1603.45	36	chr15	101066723	.	G	A	1603.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.11;DP=355;ExcessHet=0;FS=1.323;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0.117;SOR=0.856	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	6	0	1	0
chr16	547838	547838	G	A	exonic	CAPN15	.	nonsynonymous SNV	CAPN15:NM_005632:exon4:c.G1000A:p.A334T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.199123586226	.	.	5.086e-05	0	0.0002	0	0	5.576e-05	0	0	3.84e-05	1	26028	rs762765497	4.663e-05	4.925e-05	4.093e-05	5.239e-05	8.975e-05	3.737e-05	3.42e-05	4.008e-05	3.66e-05	8.975e-05	6.738e-05	0	0	0	0	5.13e-05	0	5.817e-05	2.628e-05	2.627e-05	2.569e-05	2.689e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.41e-05	0	0	0.188	0.21304	T	0.603	0.07868	T	0.016	0.17332	B	0.006	0.12133	B	0.000215	0.47681	D	0.179830	0.965577	0.38476	D	0.975	0.24501	L	-2.85	0.91363	D	-0.36	0.13035	N	0.15	0.15328	-0.3327	0.74055	T	0.516	0.81879	D	10	0.12493229	0.23734	T	0.199124	0.86634	D	0.221	0.51721	0.152	0.05544	0.15499578495	0.15088	0.3024292545466378	0.30155	.	.	0.60355168581	0.53406	T	0.009959	0.21082	T	-0.208143	0.19641	T	-0.339117	0.40445	T	0.0347810161799468	0.02771	T	0.865913	0.73996	D	0.028734738	0.02258	0.0509089	0.08085	0.028734738	0.02257	0.0509089	0.08084	-4.837	0.35019	T	.	.	0.085	0.30842	B	.;.	.;.	2.869555	0.37944	20.6	0.98695078617542109	0.44823	0.83517	0.42629	D	AEFBI	0.163574	0.28987	N	-0.305697085541227	0.28930	1.599947	-0.170271611956242	0.32636	1.858749	0.700785888170999	0.22697	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.93	3.94	0.44807	3.566000	0.53550	9.724000	0.81376	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.476000	0.28476	0.0913:0.0:0.5344:0.3742	5.901	0.18206	798	0.45050	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1896.53	35	chr16	547838	.	G	A	1896.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.02;DP=322;ExcessHet=0;FS=4.124;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-0.24;SOR=1.068	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1056	6	0	1	0
chr16	553028	553063	CCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC	-	exonic	CAPN15	.	frameshift deletion	CAPN15:NM_005632:exon13:c.3070_3083del:p.P1024Afs*33	.	394	1108	19	1	0	21	0.00938757	.	.	.	2810703	CAPN15-related_disorder|not_provided|Oculogastrointestinal-neurodevelopmental_syndrome	.|MedGen:C3661900|MONDO:MONDO:0036189,MedGen:C5543355,OMIM:619318,Orphanet:611201	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0080	0.0021	0.0061	0.0001	0.0024	0.0119	0.0103	0.0029	5.17e-05	8	154602	rs1441582052	0.0061	0.0061	0.0060	0.0061	0.0077	0.0060	0.0059	0.0066	0.0065	0.0013	0.0043	0.0134	0	0.0035	0.0077	0.0067	0.0068	0.0024	0.0065	0.0071	0.0069	0.0061	0.0103	0.0062	0.0060	0.0096	0.0094	0.0016	0.0012	0.0055	0.0174	0	0.0022	0.0187	0.0103	0.0112	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1237.42	58	chr16	553027	.	GCCACCCCTGCACAGGTGCGCCCCCGCCCCTGCCCCC	G	1237.42	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.107;DP=384;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=30.94;ReadPosRankSum=2.51;SOR=0.883	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,105,1575	6	0	1	0
chr16	651903	651903	C	T	exonic	WDR90	.	nonsynonymous SNV	WDR90:NM_145294:exon9:c.C917T:p.A306V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.0018667965023	8e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199867382	6.856e-06	6.84e-06	6.821e-06	6.891e-06	5.979e-05	3.47e-06	2.53e-06	9.9e-06	4.57e-06	5.979e-05	0	0	2.521e-05	0	0	3.598e-06	0	3.485e-05	2.627e-05	2.626e-05	3.853e-05	1.344e-05	7.234e-05	8.14e-06	5.14e-06	1.918e-05	1.032e-05	7.234e-05	0	0	0	0	0	0	1.47e-05	0	0	0.71	0.04056	T	0.306	0.19972	T	0.0	0.02946	B	0.0	0.01387	B	0.925304	0.07501	N	1.058450	1	0.08975	N	-0.83	0.01527	N	1.65	0.28391	T	0.19	0.04947	N	0.04	0.02088	-0.9953	0.31218	T	0.022	0.09193	T	10	0.03839308	0.02255	T	0.001867	0.03272	T	0.002	0.00045	.	.	0.0297737177859	0.01360	0.1330882897099553	0.13232	0.112582882049	0.12714	0.272616267204	0.06484	T	0.008099	0.07453	T	-0.532278	0.00372	T	-0.818966	0.01474	T	0.0354666437905742	0.02887	T	0.383762	0.09387	T	0.02217169	0.00863	0.02698386	0.00819	0.02217169	0.00862	0.02698386	0.00819	-4.087	0.25098	T	.	.	0.074	0.05060	B	.;.	.;.	-1.571742	0.00255	0.004	0.69617933108385655	0.09030	0.00178	0.01045	N	AEFBI	0.025325	0.01716	N	-1.8056017230812	0.00532	0.0228867	-1.80422119231964	0.00746	0.03323802	0.99999636521386	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	3.28	-2.28	0.06438	-3.826000	0.00401	-1.439000	0.05437	-3.042000	0.00133	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2296:0.1702:0.6002	4.435	0.10971	654	0.62520	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	932.27	39	chr16	651903	.	C	T	932.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.257;DP=249;ExcessHet=0;FS=6.575;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-1.424;SOR=1.459	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	5	0	1	1
chr16	659102	659102	G	A	exonic	WDR90	.	nonsynonymous SNV	WDR90:NM_145294:exon25:c.G3028A:p.G1010R	.	0	225	1	0	0	1	0.00221729	.	.	.	3630097	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.0146662061315	8.2e-05	.	4.19e-05	0	8.66e-05	0	0	6.097e-05	0	0	3.23e-05	5	154602	rs374635744	1.507e-05	1.505e-05	1.363e-05	1.652e-05	0.0003	9.86e-06	8.42e-06	6.092e-05	2.521e-05	5.975e-05	2.236e-05	0	7.557e-05	1.931e-05	0.0003	8.993e-06	4.969e-05	0	3.287e-05	3.284e-05	3.855e-05	2.692e-05	6.546e-05	1.261e-05	7.98e-06	8e-06	2.99e-06	4.829e-05	0	6.546e-05	0	0	0	0	2.941e-05	0	0	0.698	0.04200	T	0.695	0.05863	T	0.001	0.09854	B	0.001	0.04355	B	0.876533	0.08787	N	0.938108	1	0.08975	N	0.805	0.20218	L	1.6	0.29085	T	-0.16	0.09460	N	0.124	0.11626	-0.9668	0.37854	T	0.070	0.28740	T	10	0.049434245	0.04533	T	0.014666	0.34938	T	0.055	0.15663	0.268	0.21576	0.101711395817	0.09552	0.23400322897707682	0.23315	0.136156359359	0.15352	0.296305567026	0.09852	T	0.003549	0.02960	T	-0.436596	0.01354	T	-0.734466	0.04128	T	0.0299603781666967	0.01984	T	0.453055	0.12870	T	0.029235467	0.02385	0.041548662	0.04748	0.029235467	0.02385	0.041548662	0.04748	-2.855	0.08701	T	.	.	0.095	0.14797	B	.;.	.;.	-0.404236	0.02198	0.218	0.553218540249794	0.05318	0.01529	0.05035	N	AEFBI	0.046866	0.07830	N	-1.37431284046135	0.02880	0.1278397	-1.52495041818464	0.02153	0.09861263	0.975237543956556	0.29615	0.660377	0.49826	0	0.694456	0.67091	0	0.723109	0.80598	0	0.491896	0.07777	0	.	.	3.17	-4.2	0.03562	-1.690000	0.02023	-3.486000	0.02750	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6563:0.0:0.3437:0.0	11.347	0.48809	654	0.62520	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1683.44	49	chr16	659102	.	G	A	1683.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.357;DP=488;ExcessHet=0;FS=1.364;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=0.013;SOR=0.573	GT:AD:DP:GQ:PL	0/1:62,73:135:99:1694,0,1432	6	0	1	0
chr16	670275	670275	A	C	exonic	RHOT2	.	nonsynonymous SNV	RHOT2:NM_001352276:exon6:c.A302C:p.K101T,RHOT2:NM_001352277:exon6:c.A302C:p.K101T,RHOT2:NM_001352279:exon6:c.A302C:p.K101T,RHOT2:NM_001352282:exon6:c.A35C:p.K12T,RHOT2:NM_001352275:exon7:c.A356C:p.K119T,RHOT2:NM_001352278:exon7:c.A356C:p.K119T,RHOT2:NM_001352280:exon7:c.A35C:p.K12T,RHOT2:NM_001352281:exon7:c.A35C:p.K12T,RHOT2:NM_001352284:exon7:c.A35C:p.K12T,RHOT2:NM_001352285:exon7:c.A35C:p.K12T,RHOT2:NM_138769:exon7:c.A356C:p.K119T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.969	0.651736735783	.	.	8.339e-06	0	0	0	0	1.526e-05	0	0	6.5e-06	1	154602	rs748110084	1.986e-05	1.984e-05	1.499e-05	2.478e-05	0.0002	1.393e-05	1.205e-05	0.0001	0.0001	0	0.0002	0	0	0	0	1.529e-05	0	1.159e-05	7.229e-05	7.224e-05	2.57e-05	0.0001	0.0007	3.972e-05	3.128e-05	0.0004	0.0003	2.413e-05	0	0.0007	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	5.085	0.99914	H	-2.31	0.94348	D	-5.37	0.84882	D	0.925	0.92901	1.006	0.97296	D	0.875	0.95850	D	10	0.9714202	0.96755	D	0.651737	0.97054	D	0.969	0.99622	0.847	0.95025	0.995895543515	0.99584	0.8988680567718057	0.89858	0.593925421395	0.54724	0.754203855991	0.75068	T	0.784012	0.96352	D	0.324461	0.84783	D	0.53001	0.95234	D	0.997555077075958	0.91838	D	0.989451	0.96526	D	0.9697371	0.98235	0.9332971	0.97320	0.9697371	0.98235	0.9332971	0.97321	-15.95	0.97685	D	.	.	0.985	0.95940	P	.;.;.	.;.;.	5.110346	0.85434	28.6	0.99804057740544105	0.88817	0.97590	0.75750	D	AEFGBCI	0.929614	0.91563	D	0.94621275413661	0.93833	12.30884	0.820994616246183	0.91215	10.77459	0.999999999996144	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.94	4.94	0.64645	7.379000	0.78975	11.041000	0.85176	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	13.466	0.60709	645	0.63593	MIRO domain;MIRO domain|Small GTP-binding protein domain;MIRO domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1910.45	36	chr16	670275	.	A	C	1910.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.403;DP=401;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=0.166;SOR=0.639	GT:AD:DP:GQ:PL	0/0:71,0:71:99:0,120,1800	6	0	1	0
chr16	681318	681318	G	A	exonic	STUB1	.	nonsynonymous SNV	STUB1:NM_001293197:exon2:c.G110A:p.S37N,STUB1:NM_005861:exon2:c.G326A:p.S109N	Spinocerebellar ataxia, autosomal recessive 16, Autosomal recessive	418	1080	24	0	0	24	0.010989	.	.	.	715021	STUB1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.066	.	0.0032	0.00459265	0.0042	0.0006	0.0010	0	0.0006	0.0043	0.0046	0.0114	0.0039262	607	154602	rs148553428	0.0048	0.0048	0.0046	0.0051	0.0116	0.0048	0.0047	0.0110	0.0107	0.0007	0.0010	0.0001	2.519e-05	0.0015	0.0066	0.0051	0.0040	0.0116	0.0032	0.0032	0.0032	0.0031	0.0120	0.0029	0.0028	0.0095	0.0086	0.0008	0	0.0026	0	0	0.0005	0.0034	0.0049	0.0047	0.0120	0.385	0.11015	T	0.591	0.09588	T	0.0	0.02946	B	0.0	0.01387	B	0.000003	0.62929	N	0.102113	1	0.81001	D	0.485	0.13215	N	1.28	0.72011	T	-0.23	0.14782	N	0.045	0.05929	-1.0913	0.05319	T	0.052	0.22037	T	10	0.00935328	0.00211	T	.	.	.	0.066	0.19193	.	.	0.469989170139	0.46626	0.0552382357288773	0.05464	0.908591861801	0.70951	0.681362867355	0.64464	T	0.464701	0.80015	T	-0.487595	0.00670	T	-0.463778	0.26188	T	0.0117402601903643	0.00181	T	0.763624	0.39255	T	0.12940878	0.30225	0.08267248	0.18886	0.15337174	0.34767	0.0686798	0.14374	-2.585	0.06390	T	0.0910412711494241	0.05734	0.051	0.05623	B	.;.;.;.	.;.;.;.	2.057552	0.26162	17.02	0.9512141436897571	0.26219	0.83108	0.42254	D	ALL	0.423068	0.48881	N	-0.510146035958848	0.21750	1.156616	-0.328821829867916	0.27173	1.505923	0.999999999809383	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	4.82	1.27	0.20595	3.670000	0.54305	4.320000	0.42995	-0.110000	0.15115	1.000000	0.71638	1.000000	0.68203	0.836000	0.39433	0.4935:0.0:0.5065:0.0	6.802	0.22943	632	0.64850	.;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006559	0.005051	0.005450	0.008772	0.000000	0.017241	0.000000	0.015152	0.07143	88.44	34	chr16	681318	.	G	A	88.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.03;DP=223;ExcessHet=0;FS=2.43;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.84;ReadPosRankSum=-0.405;SOR=1.609	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1173	6	0	1	0
chr16	728145	728145	C	A	exonic	HAGHL	.	nonsynonymous SNV	HAGHL:NM_032304:exon3:c.C200A:p.A67E,HAGHL:NM_001290137:exon4:c.C200A:p.A67E,HAGHL:NM_001290139:exon4:c.C200A:p.A67E,HAGHL:NM_001323635:exon4:c.C200A:p.A67E,HAGHL:NM_001323636:exon4:c.C200A:p.A67E,HAGHL:NM_001365282:exon4:c.C200A:p.A67E	.	467	1053	2	0	0	2	0.000948767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409	0.303249849949	.	.	.	.	.	.	.	.	.	.	.	.	.	rs988712089	2.119e-05	2.531e-05	1.49e-05	2.767e-05	0.0013	1.469e-05	1.265e-05	0.0005	0.0003	0.0001	0	0	0	0	0.0013	1.331e-05	0.0001	0	2.63e-05	2.627e-05	3.856e-05	1.346e-05	2.941e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0064	2.941e-05	0	0	0.053	0.38863	T	0.326	0.25748	T	0.918	0.50838	P	0.642	0.52168	P	0.500285	0.11957	N	0.719300	0.999997	0.23164	N	2.29	0.65257	M	-1.43	0.80730	T	-2.65	0.58248	D	0.216	0.29197	-0.6038	0.64660	T	0.436	0.77618	T	10	0.33271962	0.50473	T	0.30325	0.90951	D	0.409	0.72099	0.625	0.76028	0.461144880706	0.45741	0.4579191614387459	0.45709	0.375647903983	0.39023	0.738799870014	0.72795	T	0.359528	0.74535	T	0.00828265	0.52790	T	-0.225879	0.52169	T	0.159510165452957	0.17835	T	0.910809	0.69352	D	0.20311321	0.42378	0.22405049	0.47305	0.20311321	0.42378	0.22405049	0.47304	-13.227	0.91913	D	.	.	0.336	0.58487	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.844717	0.23437	16.02	0.96226131564684614	0.29103	0.24772	0.22496	N	ALL	0.136992	0.25784	N	-0.561156519766851	0.20136	1.059247	-0.723862835607517	0.16367	0.8654937	0.999999999968711	0.74766	0.72623	0.87236	0	0.484254	0.07192	0	0.594344	0.31042	0	0.604282	0.37693	0	.	.	3.59	0.258	0.14835	-0.670000	0.05357	-5.904000	0.01558	0.500000	0.22704	0.000000	0.06391	0.000000	0.08366	0.503000	0.29084	0.0:0.4525:0.0:0.5475	5.010	0.13649	662	0.61715	.;Metallo-beta-lactamase|Metallo-beta-lactamase|Hydroxyacylglutathione hydrolase, MBL domain;.;Metallo-beta-lactamase|Metallo-beta-lactamase|Hydroxyacylglutathione hydrolase, MBL domain;Metallo-beta-lactamase|Metallo-beta-lactamase|Hydroxyacylglutathione hydrolase, MBL domain;.;Metallo-beta-lactamase|Metallo-beta-lactamase|Hydroxyacylglutathione hydrolase, MBL domain;Metallo-beta-lactamase|Metallo-beta-lactamase|Hydroxyacylglutathione hydrolase, MBL domain;Metallo-beta-lactamase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	88.92	3	chr16	728145	.	C	A	88.92	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.566;DP=27;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=-0.566;SOR=0.693	GT:AD:DP:GQ:PL	0/0:5,0:5:15:0,15,130	5	0	1	1
chr16	984734	984734	C	T	exonic	SOX8	.	nonsynonymous SNV	SOX8:NM_014587:exon3:c.C689T:p.T230I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.875	0.783673046314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.013e-07	4.105e-06	1.391e-06	0	9.111e-07	0	0	.	.	0	0	0	0	0	0	9.111e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.006	0.70582	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.655	0.94224	H	-4.61	0.97866	D	-5.36	0.84811	D	0.661	0.67045	1.100	0.99649	D	0.960	0.98694	D	10	0.78872055	0.78473	D	0.783673	0.98297	D	0.875	0.96280	0.202	0.11659	0.63055879659	0.62753	0.5958750849294123	0.59517	0.832682807749	0.67689	0.893850445747	0.95730	D	0.730112	0.92439	D	0.28342	0.81607	D	0.169337	0.81371	D	0.994334036559524	0.85562	D	0.932807	0.74830	D	0.61163414	0.73316	0.50611603	0.71455	0.61163414	0.73317	0.50611603	0.71455	-15.297	0.96510	D	.	.	0.953	0.87248	P	.	.	5.184682	0.86943	29.1	0.99903467698896387	0.97502	0.99484	0.96594	D	AEFBI	0.876008	0.79975	D	0.829551639530442	0.87916	9.386276	0.735513260001797	0.85069	8.472456	0.999999999848586	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.18	4.18	0.48473	5.908000	0.69653	7.611000	0.61914	0.576000	0.29215	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	15.733	0.77589	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	521.53	36	chr16	984734	.	C	T	521.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.372;DP=210;ExcessHet=0;FS=2.45;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-2.214;SOR=0.405	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1164	6	0	1	0
chr16	1208033	1208033	G	T	exonic	CACNA1H	.	nonsynonymous SNV	CACNA1H:NM_001005407:exon16:c.G3175T:p.A1059S,CACNA1H:NM_021098:exon16:c.G3175T:p.A1059S	Hyperaldosteronism, familial, type IV, Autosomal dominant	0	1444	73	5	0	83	0.0279367	.	.	.	465787	not_provided|Hyperaldosteronism,_familial,_type_IV|Idiopathic_generalized_epilepsy	MedGen:C3661900|MONDO:MONDO:0014875,MedGen:C4310756,OMIM:617027,Orphanet:642671|MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.309	.	0.0075	0.00339457	0.0112	0.0030	0.0098	0	0.0021	0.0161	0.0187	0.0055	0.0068951	1066	154602	rs41292285	0.0096	0.0096	0.0097	0.0094	0.0398	0.0094	0.0094	0.0355	0.0339	0.0029	0.0066	0.0157	2.542e-05	0.0009	0.0398	0.0107	0.0109	0.0039	0.0071	0.0071	0.0074	0.0067	0.0112	0.0067	0.0066	0.0099	0.0093	0.0021	0.0011	0.0112	0.0208	0.0002	0.0009	0.0442	0.0100	0.0085	0.0037	0.555	0.06523	T	0.662	0.06469	T	0.905	0.49920	P	0.341	0.42432	B	0.992969	0.07914	N	1.003600	0.887463	0.27942	N	1.79	0.46772	L	-4.03	0.96434	D	-1.04	0.27259	N	0.472	0.53093	-0.0529	0.81145	T	0.655	0.88008	D	10	0.007585913	0.00172	T	.	.	.	0.309	0.63055	.	.	0.883948665633	0.88281	0.3793789858365737	0.37852	.	.	0.327532410622	0.14562	T	0.114747	0.43281	T	-0.263326	0.12513	T	-0.138702	0.60230	T	0.0216457835336318	0.00869	T	0.756624	0.37993	T	0.0808451	0.18545	0.072690524	0.15711	0.10385378	0.24548	0.06867416	0.14371	-6.321	0.49992	T	0.16516393160379791	0.20456	0.106	0.19760	B	.;.;.;.	.;.;.;.	2.718695	0.35558	19.93	0.74670761799237328	0.10783	0.92976	0.57013	D	AEFDBCI	0.614563	0.60183	D	-0.0423056242353998	0.39945	2.364079	-0.0665608124545789	0.36781	2.145014	0.0152303038141063	0.12689	0.695654	0.57023	0	0.578056	0.33634	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.01	3.02	0.33970	4.898000	0.62925	6.437000	0.55645	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.119000	0.19126	0.0:0.0:0.8251:0.1749	11.950	0.52235	940	0.13648	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.038810	0.025510	0.046322	0.076023	0.000000	0.034483	0.021341	0.018939	0.07143	1036.49	44	chr16	1208033	.	G	T	1036.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.089;DP=313;ExcessHet=0;FS=0.753;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=-0.027;SOR=0.836	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1200	6	0	1	0
chr16	1211517	1211517	G	A	exonic	CACNA1H	.	nonsynonymous SNV	CACNA1H:NM_001005407:exon23:c.G4387A:p.D1463N,CACNA1H:NM_021098:exon23:c.G4387A:p.D1463N	Hyperaldosteronism, familial, type IV, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	714724	Idiopathic_generalized_epilepsy|Hyperaldosteronism,_familial,_type_IV	MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669|MONDO:MONDO:0014875,MedGen:C4310756,OMIM:617027,Orphanet:642671	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.559	0.107019379893	.	0.000798722	0.0002	0	0.0002	0	0	0	0	0.0015	0.0002005	31	154602	rs542245543	0.0001	0.0001	6.405e-05	0.0001	0.0013	8.79e-05	8.276e-05	0.0011	0.0011	0	2.237e-05	0	5.039e-05	0	0.0003	1.979e-05	9.944e-05	0.0013	9.849e-05	9.844e-05	7.708e-05	0.0001	0.0014	6.002e-05	4.877e-05	0.0007	0.0005	0	0	0.0001	0	0.0002	0	0	5.881e-05	0.0005	0.0014	0.197	0.20607	T	0.179	0.29540	T	0.999	0.77913	D	0.962	0.70672	D	0.036259	0.24545	N	0.436139	0.999295	0.46578	D	1.085	0.27262	L	-4.89	0.98313	D	-4.18	0.75537	D	0.605	0.68169	1.047	0.98048	D	0.926	0.97568	D	10	0.2946446	0.47036	T	0.107019	0.78290	D	0.559	0.81888	0.773	0.89924	0.882057289649	0.88090	0.7304608920110456	0.72991	.	.	0.708253145218	0.68341	T	0.776562	0.94063	D	-0.231673	0.16429	T	-0.140937	0.60036	T	0.274511307477951	0.23939	T	0.972203	0.89922	D	0.27241325	0.50311	0.23776823	0.49082	0.2666221	0.49733	0.236766	0.48956	-7.467	0.59008	T	0.2926297351955737	0.38935	0.159	0.35183	B	.;.;.;.	.;.;.;.	4.599355	0.72823	25.9	0.99423473693900821	0.63887	0.94538	0.61490	D	AEFBCI	0.899163	0.84324	D	0.236166521376934	0.52959	3.467065	0.231000056233872	0.51576	3.338923	0.999990341096675	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.99	3.99	0.45527	7.910000	0.86855	9.745000	0.81450	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.234000	0.22842	0.0:0.0:1.0:0.0	15.576	0.76129	934	0.15400	Ion transport domain;Ion transport domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	917.83	34	chr16	1211517	.	G	A	917.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.06;DP=236;ExcessHet=0;FS=1.99;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=0.283;SOR=0.766	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1080	6	0	1	0
chr16	1218439	1218439	G	A	exonic	CACNA1H	.	nonsynonymous SNV	CACNA1H:NM_001005407:exon32:c.G5657A:p.R1886H,CACNA1H:NM_021098:exon33:c.G5675A:p.R1892H	Hyperaldosteronism, familial, type IV, Autosomal dominant	0	1502	20	0	0	20	0.00661376	.	.	.	1157619	not_provided|Idiopathic_generalized_epilepsy|Hyperaldosteronism,_familial,_type_IV	MedGen:C3661900|MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669|MONDO:MONDO:0014875,MedGen:C4310756,OMIM:617027,Orphanet:642671	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.289	0.230569211625	.	0.000798722	0.0004	0.0005	0	0	0	0.0003	0	0.0006	0.0001617	25	154602	rs58667649	0.0002	0.0002	0.0001	0.0003	0.0026	0.0002	0.0002	0.0016	0.0014	6.31e-05	5.565e-05	0	8.368e-05	0	0.0026	8.606e-05	0.0004	0.0017	0.0002	0.0002	0.0001	0.0002	0.0015	0.0001	9.233e-05	0.0007	0.0005	4.813e-05	0	0.0003	0	0	0	0.0034	0.0001	0	0.0015	0.12	0.27904	T	0.108	0.38160	T	0.696	0.63424	P	0.075	0.49411	B	0.000000	0.00162	N	217.147000	1	0.08975	N	0.345	0.11182	N	-4.02	0.96402	D	-0.32	0.12283	N	0.121	0.11197	0.181	0.85590	D	0.748	0.91401	D	10	0.02485764	0.00699	T	0.230569	0.88236	D	0.289	0.60808	.	.	0.686264368364	0.68357	0.28994561901116644	0.28907	.	.	0.418811500072	0.27673	T	0.111524	0.42708	T	-0.306378	0.08070	T	-0.242946	0.50510	T	0.010467638469209	0.00144	T	0.608739	0.23025	T	0.052658413	0.09854	0.03237358	0.01963	0.064911254	0.13820	0.036766883	0.03190	-4.592	0.32071	T	0.08143372016908992	0.04205	0.089	0.14108	B	.;.;.;.	.;.;.;.	0.662662	0.10309	7.042	0.99744602681041505	0.83778	0.05902	0.11853	N	AEFBCI	0.100308	0.20173	N	-0.867638323477869	0.11619	0.5616765	-1.0072562263633	0.09625	0.47993	0.00315771082778046	0.09960	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.05	-0.615	0.11005	-0.683000	0.05280	-0.807000	0.07350	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1086:0.1665:0.5543:0.1706	3.374	0.06811	929	0.16858	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	1331.49	105	chr16	1218439	.	G	A	1331.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.213;DP=402;ExcessHet=0;FS=0.739;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-0.055;SOR=0.555	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,104,1310	6	0	1	0
chr16	1222655	1222655	C	T	exonic	TPSG1	.	nonsynonymous SNV	TPSG1:NM_012467:exon4:c.G508A:p.G170R	.	420	1087	14	1	0	16	0.00730594	.	.	.	3547248	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.415	.	0.0045	0.00259585	0.0057	0.0009	0.0018	0	0.0132	0.0073	0.0115	0.0041	0.005291	818	154602	rs117769620	0.0065	0.0064	0.0065	0.0065	0.0070	0.0063	0.0063	0.0069	0.0069	0.0010	0.0027	0.0042	0	0.0119	0.0045	0.0070	0.0050	0.0040	0.0053	0.0053	0.0050	0.0057	0.0076	0.0050	0.0049	0.0071	0.0069	0.0009	0.0011	0.0039	0.0052	0.0006	0.0140	0	0.0076	0.0043	0.0031	0.177	0.22224	T	0.158	0.31629	T	.	.	.	.	.	.	.	.	.	.	0.963972	0.38379	D	.	.	.	-3.28	0.93691	D	-2.04	0.46842	N	0.213	0.23758	0.229	0.86402	D	0.691	0.89353	D	9	0.006044209	0.00136	T	.	.	.	0.415	0.72555	0.381	0.39807	0.785410752037	0.78342	0.4606196750680351	0.45979	0.00263683917289	0.00224	0.426082849503	0.28673	T	.	.	.	-0.243385	0.14921	T	-0.111994	0.62451	T	0.00772634738732492	0.00090	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.46768	B	.	.	1.493604	0.19208	14.15	0.97134166511576381	0.32512	0.13353	0.17808	N	AEFBI	0.130872	0.24959	N	-0.218365182857331	0.32381	1.825505	-0.379029701159621	0.25623	1.410239	0.0234896658822606	0.13510	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.47	2.48	0.29194	0.088000	0.14821	-0.540000	0.08588	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.119000	0.19126	0.0:0.8827:0.0:0.1173	9.161	0.36182	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002548	0.000000	0.005464	0.000000	0.000000	0.000000	0.009375	0.000000	0.07143	321.63	25	chr16	1222655	.	C	T	321.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.11;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-0.121;SOR=0.804	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,101,1355	6	0	1	0
chr16	1228762	1228762	G	A	exonic	TPSB2	.	nonsynonymous SNV	TPSB2:NM_024164:exon6:c.C716T:p.A239V	.	442	1078	2	0	0	2	0.000926784	.	.	.	2810765	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.216	0.0391921706305	0.0019	0.000998403	0.0021	0.0007	0.0008	0	0.0008	0.0021	0	0.0052	0.0014424	223	154602	rs377518279	0.0023	0.0023	0.0022	0.0023	0.0043	0.0022	0.0022	0.0039	0.0038	0.0005	0.0007	0.0002	2.598e-05	0.0008	0.0002	0.0024	0.0018	0.0043	0.0015	0.0017	0.0016	0.0014	0.0024	0.0013	0.0012	0.0021	0.0020	0.0006	0	0.0011	0.0006	0	0.0004	0	0.0024	0	0.0006	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	0.013571	0.28799	N	0.162599	0.999953	0.19072	N	.	.	.	.	.	.	.	.	.	0.167	0.17691	-0.6302	0.63562	T	0.238	0.60499	T	9	0.0325495	0.01409	T	0.039192	0.58670	D	.	.	.	.	0.0716867268079	0.06686	0.26890481414157447	0.26803	.	.	0.407631844282	0.26128	T	.	.	.	-0.315429	0.07279	T	-0.225739	0.52182	T	0.0206872950787928	0.00768	T	0.858314	0.54891	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.45738	B	.;.	.;.	1.026983	0.14066	10.64	0.7093993899100236	0.09462	0.16731	0.19523	N	AEFGI	0.041476	0.06309	N	-0.433548995678859	0.24301	1.311179	-0.491490558151285	0.22387	1.215694	0.00129884366857155	0.08419	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	.	.	3.8	1.76	0.23776	0.072000	0.14482	-1.339000	0.05677	0.522000	0.23927	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.3609:0.0:0.6391:0.0	5.365	0.15410	923	0.18507	.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004086	0.000000	0.002732	0.000000	0.000000	0.000000	0.006173	0.007576	0.07143	259.83	60	chr16	1228762	.	G	A	259.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.318;DP=330;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=47.02;MQRankSum=-0.8;QD=3.42;ReadPosRankSum=-0.366;SOR=0.83	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,108,1729	6	0	1	0
chr16	1242128	1242128	C	T	exonic	TPSAB1	.	nonsynonymous SNV	TPSAB1:NM_003294:exon6:c.C716T:p.A239V	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.433241821357	.	0.000399361	0.0006	0.0004	0	0.0002	0	0.0001	0	0.0039	7.68e-05	2	26028	rs528808259	0.0002	0.0003	0.0001	0.0003	0.0031	0.0002	0.0002	0.0027	0.0026	0.0005	0	0	5.119e-05	0	0.0006	3.801e-05	0.0001	0.0031	0.0001	0.0002	0.0001	0.0001	0.0008	7.877e-05	6.322e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	1.843e-05	0.0008	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.955	0.54515	P	0.144	0.33818	B	0.013571	0.28799	N	0.162599	0.905264	0.36271	D	-0.29	0.03673	N	-2.2	0.86888	D	0.73	0.02518	N	0.203	0.22486	-0.6284	0.63639	T	0.159	0.49346	T	10	0.11104089	0.20779	T	0.433242	0.94022	D	0.313	0.63482	.	.	0.267299060538	0.26338	0.43449987858078915	0.43366	2.37714289507	0.96994	0.445918679237	0.31387	T	0.204264	0.56298	T	-0.334636	0.05769	T	-0.257136	0.49110	T	0.0262940857280014	0.01445	T	0.858314	0.54891	D	0.04923348	0.08710	0.042608526	0.05114	0.04923348	0.08709	0.042608526	0.05113	-6.077	0.46919	T	.	.	0.217	0.44630	B	.;.;.	.;.;.	0.713020	0.10821	7.500	0.18322089282069842	0.00571	0.25834	0.22816	N	AEFI	0.114589	0.22564	N	-0.973644511028651	0.09169	0.4328615	-0.97730152549505	0.10296	0.5176444	1.34269192740841E-5	0.02871	0.497415	0.19182	0	0.547309	0.14657	0	0.59043	0.30614	0	0.613276	0.41899	0	.	.	3.08	2.12	0.26372	0.952000	0.28747	-20.000000	0.00162	-0.469000	0.05095	0.332000	0.25606	0.000000	0.08366	0.006000	0.07323	0.0:0.7292:0.0:0.2707	5.367	0.15423	906	0.23090	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	483.44	50	chr16	1242128	.	C	T	483.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.847;DP=344;ExcessHet=0;FS=7.005;MLEAC=1;MLEAF=0.071;MQ=43.84;MQRankSum=-3.628;QD=4.6;ReadPosRankSum=1.39;SOR=2.13	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	6	0	1	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	418.93	32	chr16	1397277	.	A	*	418.93	.	AC=9;AF=0.75;AN=12;DP=345;ExcessHet=0.4139;FS=0.651;MLEAC=10;MLEAF=0.833;MQ=60;QD=1.76;SOR=0.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,20:33:99:1|0:1397263_TCCCCGTGCTTCACACTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCGCCCCCCAC_T:2778,617,425:1397263	0	3	3	1
chr16	1487699	1487699	C	T	exonic	PTX4	.	nonsynonymous SNV	PTX4:NM_001013658:exon2:c.G398A:p.R133Q,PTX4:NM_001328608:exon2:c.G413A:p.R138Q	.	.	.	.	.	.	.	.	.	.	.	2731942	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.026	0.005982567224	.	.	0.0003	0.0002	0	0.0014	0.0006	0.0001	0.0012	0.0003	0.0002005	31	154602	rs570112487	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	8.971e-05	0	0	0.0004	0.0002	0	0.0002	8.297e-05	0.0003	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	9.234e-05	0.0002	8.992e-05	0.0002	0	0	0	0.0004	0.0004	0	7.353e-05	0.0009	0.0006	0.536	0.12878	T	0.69	0.07292	T	0.0	0.02946	B	0.001	0.04355	B	0.000592	0.00643	N	4.725830	1	0.18198	N	-0.28	0.03718	N	3.61	0.05130	T	0.61	0.02480	N	0.051	0.02559	-0.9366	0.43149	T	0.012	0.04653	T	10	0.008454621	0.00192	T	0.005983	0.15608	T	0.026	0.05648	.	.	0.0401082797425	0.02173	0.027717842410506108	0.02721	0.233150569731	0.25850	0.205734416842	0.00643	T	0.003291	0.02698	T	-0.690304	0.00042	T	-0.794429	0.02045	T	0.0140042901142811	0.00270	T	0.50265	0.15781	T	0.019876495	0.00529	0.05665677	0.10162	0.019876495	0.00529	0.05665677	0.10161	-3.427	0.21044	T	.	.	0.070	0.03336	B	.;.	.;.	-0.836439	0.01037	0.044	0.78273523545525525	0.12230	0.01134	0.04120	N	AEFDBHCIJ	0.037473	0.05159	N	-1.8670527825008	0.00401	0.01723838	-1.88922159107741	0.00514	0.02278652	0.999999832276607	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.67	-5.37	0.02472	-0.928000	0.04088	-5.772000	0.01601	-1.599000	0.00895	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4739:0.0:0.5261	13.884	0.63197	808	0.43318	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	438.46	34	chr16	1487699	.	C	T	438.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.502;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.33;ReadPosRankSum=-0.455;SOR=0.713	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1212	6	0	1	0
chr16	1974207	1974207	C	T	exonic	TBL3	.	nonsynonymous SNV	TBL3:NM_006453:exon3:c.C104T:p.T35I	.	413	1098	11	0	0	11	0.00498414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0429751778706	0.0002	0.000599042	0.0005	0	0.0003	0	0	0.0003	0.0024	0.0033	0.0004528	70	154602	rs140686526	0.0003	0.0003	0.0002	0.0004	0.0030	0.0003	0.0003	0.0026	0.0025	0	9.233e-05	0	2.54e-05	0	0.0021	0.0002	0.0003	0.0030	0.0002	0.0002	0.0002	0.0002	0.0023	0.0001	0.0001	0.0013	0.0010	2.405e-05	0	0	0	0	0	0	0.0002	0	0.0023	0.011	0.55530	D	0.003	0.76473	D	0.411	0.35101	B	0.07	0.27859	B	0.407104	0.13046	N	0.755539	0.999793	0.20333	N	1.5	0.37844	L	0.08	0.61559	T	-2.1	0.47852	N	0.391	0.43223	-1.0700	0.09413	T	0.045	0.19437	T	9	0.012393922	0.00266	T	0.042975	0.60744	D	.	.	.	.	0.737181652176	0.73483	0.3905156764911889	0.38966	0.16726596523	0.18862	0.404731631279	0.25726	T	0.054681	0.29794	T	-0.40724	0.02074	T	-0.363297	0.37670	T	0.0467984344662359	0.04929	T	0.743426	0.36288	T	0.06572455	0.14076	0.08647207	0.20036	0.06572455	0.14075	0.08647207	0.20036	-11.609	0.82894	D	.	.	0.184	0.39881	B	.	.	3.400269	0.47116	22.4	0.991513422580385	0.53820	0.77609	0.38178	D	AEFBI	0.159007	0.28474	N	-0.158463950374965	0.34877	1.996272	-0.0581749187034654	0.37138	2.170514	0.99922100046177	0.38808	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.53	3.43	0.38372	3.887000	0.55910	1.719000	0.28247	0.599000	0.40250	0.978000	0.35038	0.148000	0.23153	0.945000	0.48827	0.4209:0.4419:0.1372:0.0	6.745	0.22645	707	0.57054	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1621.44	36	chr16	1974207	.	C	T	1621.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.326;DP=468;ExcessHet=0;FS=2.268;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-0.106;SOR=0.925	GT:AD:DP:GQ:PL	0/0:111,0:111:99:0,120,1800	6	0	1	0
chr16	1980535	1980535	A	T	exonic	NOXO1	.	nonsynonymous SNV	NOXO1:NM_001267721:exon4:c.T245A:p.L82Q,NOXO1:NM_144603:exon4:c.T230A:p.L77Q,NOXO1:NM_172167:exon4:c.T233A:p.L78Q,NOXO1:NM_172168:exon4:c.T248A:p.L83Q	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.280317146142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.29420	T	0.014	0.62352	D	0.814	0.46778	P	0.491	0.53665	P	0.161450	0.03041	N	1.635990	1	0.08975	N	2.095	0.58118	M	-0.57	0.71307	T	-1.93	0.45042	N	0.294	0.43995	-0.8364	0.52885	T	0.449	0.78419	T	10	0.2483531	0.42131	T	0.280317	0.90207	D	0.223	0.52023	0.305	0.27485	0.704923551402	0.70235	0.34549680149822243	0.34463	0.837230810491	0.67862	0.401064753532	0.25216	T	0.251846	0.62215	T	-0.0475947	0.44812	T	-0.306143	0.44072	T	0.41401199360087	0.29467	T	0.555444	0.19245	T	0.13354786	0.31058	0.13917483	0.33214	0.13354786	0.31058	0.13917483	0.33213	-5.186	0.40455	T	.	.	0.159	0.35119	B	.;.;.;.	.;.;.;.	2.350402	0.30131	18.34	0.93829906181452671	0.23816	0.21160	0.21303	N	AEFDBCIJ	0.126022	0.24278	N	-0.245290607676764	0.31291	1.753144	-0.414924617725761	0.24559	1.345522	0.999996381013092	0.74766	0.764865	0.99124	0	0.550933	0.16991	0	0.503968	0.08637	0	0.767244	0.99903	0	.	.	5.12	4.01	0.45821	0.019000	0.13337	4.738000	0.44591	0.751000	0.87719	0.000000	0.06391	0.241000	0.23851	0.159000	0.20615	0.6643:0.1713:0.0:0.1643	5.975	0.18608	745	0.52414	.;.;Phox homologous domain|Phox homologous domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	769.53	33	chr16	1980535	.	A	T	769.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.589;DP=224;ExcessHet=0;FS=3.433;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-0.557;SOR=0.724	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1050	6	0	1	0
chr16	2033364	2033364	G	A	exonic	SLC9A3R2	.	nonsynonymous SNV	SLC9A3R2:NM_001252073:exon1:c.G13A:p.G5R,SLC9A3R2:NM_001252075:exon1:c.G13A:p.G5R,SLC9A3R2:NM_001252076:exon1:c.G13A:p.G5R	.	421	1094	7	0	0	7	0.00318907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00319489	0.0006	0.0147	0	0	.	0.0004	0	0.0003	0.0001811	28	154602	rs575900421	0.0005	0.0005	0.0005	0.0005	0.0104	0.0005	0.0005	0.0095	0.0091	0.0104	0.0011	0	0	0	0.0022	0.0002	0.0011	0.0006	0.0028	0.0028	0.0030	0.0027	0.0095	0.0026	0.0025	0.0087	0.0084	0.0095	0	0.0011	0	0	0	0.0034	0.0002	0.0014	0.0004	1.0	0.02718	T	0.011	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.18878	N	.	.	.	1.86	0.25018	T	-0.51	0.17210	N	0.102	0.08506	.	.	.	.	.	.	.	0.0036082864	0.00065	T	.	.	.	.	.	.	.	0.412587454835	0.40873	.	.	.	.	.	.	.	0.01989	0.15761	T	-0.631094	0.00094	T	-0.672476	0.07450	T	.	.	.	0.572743	0.20478	T	.	.	.	.	.	.	.	.	-2.796	0.08147	T	.	.	0.165	0.36335	B	.;.	.;.	0.554931	0.09233	6.017	0.92997504049070678	0.22586	0.01151	0.04161	N	AEFDGBHCI	0.094172	0.19044	N	.	.	.	.	.	.	0.999999993447878	0.74766	0.580535	0.33130	0	0.578056	0.33634	0	0.576033	0.28219	0	0.372554	0.06265	0	.	.	3.8	-2.41	0.06184	-1.615000	0.02158	1.091000	0.23980	-0.124000	0.13482	0.000000	0.06391	0.468000	0.25038	0.008000	0.08271	0.4614:0.0:0.3628:0.1758	3.631	0.07672	675	0.60470	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	635.49	27	chr16	2033364	.	G	A	635.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.583;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.5;ReadPosRankSum=-0.757;SOR=0.65	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,980	6	0	1	0
chr16	2088096	2088096	G	A	exonic	TSC2	.	nonsynonymous SNV	TSC2:NM_001318831:exon36:c.G4385A:p.R1462H,TSC2:NM_001318827:exon37:c.G4808A:p.R1603H,TSC2:NM_001318829:exon37:c.G4772A:p.R1591H,TSC2:NM_001077183:exon38:c.G4916A:p.R1639H,TSC2:NM_001318832:exon38:c.G4949A:p.R1650H,TSC2:NM_001363528:exon38:c.G4919A:p.R1640H,TSC2:NM_001114382:exon39:c.G5048A:p.R1683H,TSC2:NM_001370404:exon39:c.G4985A:p.R1662H,TSC2:NM_001370405:exon39:c.G4988A:p.R1663H,TSC2:NM_021055:exon39:c.G4988A:p.R1663H,TSC2:NM_000548:exon40:c.G5117A:p.R1706H	Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2, Autosomal dominant	0	1512	10	0	0	10	0.00329598	.	.	YES	58618	Tuberous_sclerosis_syndrome|Hereditary_cancer-predisposing_syndrome|Tuberous_sclerosis_2|not_provided|Ovarian_cancer|TSC2-related_disorder|Polycystic_kidney_disease,_adult_type	MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254,Orphanet:805|MedGen:C3661900|MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500|.|MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.603	0.0700155671428	.	0.000199681	5.831e-05	0	0	0	0	6.097e-05	0.0011	0.0001	5.82e-05	9	154602	rs45517392	9.791e-05	9.919e-05	0.0001	9.221e-05	0.0005	8.451e-05	7.928e-05	0.0001	7.541e-05	0	0.0001	0	0	5.756e-05	0.0005	9.622e-05	0.0003	8.115e-05	7.221e-05	7.218e-05	8.992e-05	5.37e-05	0.0002	3.968e-05	3.125e-05	5.277e-05	2.833e-05	2.405e-05	0	0.0002	0	0	0	0	8.821e-05	0	0.0002	0.109	0.31532	T	0.043	0.50514	D	0.01	0.15535	B	0.007	0.12992	B	0.022613	0.26600	N	0.342750	0.992287	0.41604	D	1.095	0.27400	L	-3.59	0.94975	D	-1.59	0.45949	N	0.58	0.60156	0.105	0.84272	D	0.672	0.88650	D	10	0.21449265	0.37973	T	0.070016	0.70887	D	0.603	0.84345	0.51	0.60693	0.967183185669	0.96683	0.4366113362109103	0.43578	.	.	0.342073023319	0.16748	T	0.845342	0.96430	D	0.0768075	0.61665	D	0.141852	0.79665	D	0.0560189597308636	0.06528	T	0.90141	0.67446	D	0.14639221	0.33515	0.06258713	0.12267	0.19125472	0.40745	0.0706193	0.15024	-6.304	0.49992	T	0.23275594817303685	0.31504	0.075	0.14797	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.530993	0.49542	22.8	0.99446760388939814	0.65071	0.75809	0.37137	D	AEFDGBCI	0.411570	0.48199	N	-0.142331394342387	0.35562	2.044224	0.00356565001258005	0.39880	2.371379	0.999999949781252	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.65	4.65	0.57626	3.502000	0.53092	4.460000	0.43455	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.511000	0.29267	0.2457:0.0:0.7543:0.0	6.065	0.19085	779	0.47767	Rap GTPase activating protein domain|Rap GTPase activating protein domain;Rap GTPase activating protein domain|Rap GTPase activating protein domain;Rap GTPase activating protein domain|Rap GTPase activating protein domain;.;.;Rap GTPase activating protein domain|Rap GTPase activating protein domain;Rap GTPase activating protein domain|Rap GTPase activating protein domain;Rap GTPase activating protein domain|Rap GTPase activating protein domain;.;.;Rap GTPase activating protein domain|Rap GTPase activating protein domain;.;Rap GTPase activating protein domain|Rap GTPase activating protein domain;Rap GTPase activating protein domain|Rap GTPase activating protein domain;Rap GTPase activating protein domain|Rap GTPase activating protein domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	864.45	42	chr16	2088096	.	G	A	864.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.098;DP=280;ExcessHet=0;FS=4.17;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-1.017;SOR=1.153	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1195	6	0	1	0
chr16	2115565	2115565	G	A	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon10:c.C1910T:p.A637V,PKD1:NM_001009944:exon10:c.C1910T:p.A637V	Polycystic kidney disease, adult type I, Autosomal dominant	511	978	33	0	0	33	0.0165913	.	.	.	1867778	Polycystic_kidney_disease,_adult_type	MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.0534633280181	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1324355778	4.171e-06	0.0001	6.913e-06	1.398e-06	1.819e-06	1.5e-06	9.9e-07	3e-07	1.1e-07	0	0	3.886e-05	0	5.971e-05	0	1.819e-06	0	0	2.655e-05	0.0003	1.297e-05	4.08e-05	0.0002	8.2e-06	5.18e-06	.	.	2.445e-05	0	6.594e-05	0	0	0	0	1.484e-05	0	0.0002	0.546	0.06669	T	1.0	0.01155	T	0.007	0.14184	B	0.004	0.12133	B	0.431197	0.12746	N	0.741456	1	0.08975	N	0.64	0.16041	N	1.3	0.35590	T	-0.32	0.12283	N	0.066	0.03841	-0.9771	0.35660	T	0.051	0.21883	T	10	0.047445476	0.04062	T	0.053463	0.65479	D	0.013	0.01715	0.209	0.12639	0.340919117937	0.33698	0.20406219076281423	0.20323	.	.	0.288482248783	0.08702	T	0.152567	0.49302	T	-0.323373	0.06626	T	-0.702279	0.05702	T	0.0417249462178994	0.04004	T	0.339066	0.07293	T	0.018118778	0.00334	0.028770795	0.01144	0.018118778	0.00334	0.028770795	0.01144	-4.194	0.26665	T	0.1049183383087965	0.08259	0.076	0.05845	B	.;.	.;.	-0.438832	0.02071	0.191	0.74349038070323958	0.10662	0.01644	0.05287	N	AEFBI	0.049109	0.08451	N	-1.78608120196869	0.00580	0.02499262	-1.83827809865499	0.00644	0.02863882	0.348052764701403	0.19653	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.9	-3.83	0.03988	-0.439000	0.06967	0.727000	0.21057	-1.633000	0.00850	0.000000	0.06391	0.003000	0.18671	0.000000	0.00833	0.434:0.0934:0.4726:0.0	9.138	0.36047	650	0.62973	Polycystin cation channel;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.1429	39.42	35	chr16	2115565	.	G	A	39.42	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.37;DP=310;ExcessHet=0.3476;FS=32.434;MLEAC=2;MLEAF=0.143;MQ=51.16;MQRankSum=-4.414;QD=0.25;ReadPosRankSum=-2.322;SOR=4.957	GT:AD:DP:GQ:PL	0/1:63,7:70:19:19,0,1605	5	0	2	0
chr16	2170704	2170704	T	C	exonic	TRAF7	.	nonsynonymous SNV	TRAF7:NM_032271:exon5:c.T322C:p.S108P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	0.0529311611731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.33585	T	0.266	0.92824	T	0.995	0.67487	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.695	0.17993	N	0.67	0.52187	T	-1.56	0.57599	N	0.793	0.78927	-0.7897	0.55747	T	0.179	0.52458	T	10	0.42803168	0.57304	T	0.052931	0.65269	D	0.255	0.56562	0.109	0.01988	0.769452518284	0.76733	0.3900614802325201	0.38921	0.106417220655	0.12028	0.697953104973	0.66849	T	0.110641	0.42550	T	0.067462	0.60538	T	-0.140872	0.60042	T	0.90105813741684	0.55371	D	0.952605	0.81930	D	0.3297317	0.55449	0.34265524	0.59988	0.3297317	0.55449	0.34265524	0.59988	-7.229	0.55689	T	.	.	0.430	0.85485	A	.;.	.;.	5.053566	0.84183	28.2	0.9832397472399127	0.40270	0.95642	0.65542	D	AEFDBCI	0.973986	0.99530	D	0.549157435266354	0.70032	5.44218	0.565711615531454	0.72497	5.819237	0.999999999996869	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.56214	0.19341	0	.	.	4.79	4.79	0.60909	6.157000	0.71647	7.840000	0.70487	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0:0.0:0.0:1.0	13.642	0.61730	620	0.66037	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr16	2170704	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1123	6	1	0	0
chr16	2173187	2173187	C	T	exonic	TRAF7	.	nonsynonymous SNV	TRAF7:NM_032271:exon10:c.C800T:p.T267M	.	.	.	.	.	.	.	.	.	.	.	2393095	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.172	0.0225916361302	0.0002	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs373051088	4.124e-06	4.104e-06	4.101e-06	4.147e-06	2.536e-05	1.48e-06	9.8e-07	3.89e-06	1.46e-06	0	0	0	2.536e-05	0	0	1.802e-06	1.663e-05	2.341e-05	1.974e-05	1.971e-05	1.286e-05	2.694e-05	0.0002	5.25e-06	2.46e-06	8.01e-06	3e-06	4.834e-05	0	0	0	0	0	0	0	0	0.0002	0.139	0.25768	T	0.167	0.30729	T	0.537	0.37852	P	0.295	0.40843	B	0.000000	0.84330	D	0.050060	1	0.81001	D	1.32	0.33002	L	1.71	0.26737	T	-1.08	0.28084	N	0.637	0.64989	-1.0786	0.07622	T	0.070	0.28708	T	10	0.5369108	0.63500	D	0.022592	0.45493	T	0.172	0.43662	.	.	0.497741790239	0.49410	0.7610307432009717	0.76051	1.46662889	0.86454	0.769124746323	0.77293	T	0.173255	0.52206	T	-0.20985	0.19400	T	-0.356444	0.38463	T	0.60656726360321	0.36662	D	0.871013	0.57621	D	0.14861539	0.33921	0.121574536	0.29333	0.14861539	0.33921	0.121574536	0.29332	-8.203	0.62445	D	.	.	0.103	0.18331	B	.	.	3.756508	0.53871	23.4	0.99728739555453061	0.82619	0.98482	0.83244	D	AEFBI	0.942101	0.94623	D	0.295802696341764	0.55936	3.757697	0.373022606697222	0.59905	4.172684	0.999999999960653	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.6	4.6	0.56512	7.822000	0.84804	2.696000	0.34125	0.599000	0.40250	1.000000	0.71638	0.989000	0.31174	0.695000	0.33988	0.0:1.0:0.0:0.0	16.578	0.84557	629	0.65079	Zinc finger, TRAF-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1299.63	33	chr16	2173187	.	C	T	1299.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.96;DP=278;ExcessHet=0;FS=4.094;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.252;SOR=1.161	GT:AD:DP:GQ:PL	0/1:50,48:98:99:1310,0,1229	6	0	1	0
chr16	2181299	2181299	G	A	exonic	CASKIN1	.	nonsynonymous SNV	CASKIN1:NM_020764:exon18:c.C2069T:p.T690M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0352485557079	.	0.000798722	0.0003	0	9.994e-05	0	0.0002	0	0	0.0019	0.0002199	34	154602	rs563407426	0.0001	0.0001	7.268e-05	0.0002	0.0019	0.0001	0.0001	0.0017	0.0016	0	0	0	0	0	0	1.08e-05	6.647e-05	0.0019	7.885e-05	7.875e-05	6.43e-05	9.406e-05	0.0019	4.497e-05	3.512e-05	0.0010	0.0007	0	0	6.532e-05	0	0	0	0	2.942e-05	0	0.0019	0.203	0.20154	T	0.261	0.22962	T	0.054	0.22658	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-0.69	0.01958	N	-0.16	0.65378	T	-0.5	0.15782	N	0.103	0.08646	-1.0396	0.17434	T	0.086	0.33578	T	9	0.006239295	0.00141	T	0.035249	0.56218	D	0.076	0.22200	0.157	0.06070	0.358048530964	0.35414	0.10973794465052185	0.10902	0.292227793806	0.31634	0.424947202206	0.28518	T	0.008963	0.08187	T	-0.574848	0.00207	T	-0.605769	0.12331	T	0.0163734000603643	0.00405	T	0.469153	0.13854	T	0.014155587	0.00083	0.03161068	0.01775	0.014155587	0.00083	0.03161068	0.01775	-5.83	0.44835	T	.	.	0.072	0.04238	B	.	.	-0.261693	0.02790	0.381	0.69226453992991877	0.08905	0.02166	0.06356	N	AEFBI	0.043423	0.06864	N	-1.27035507953188	0.04037	0.1814754	-1.28520940571177	0.04630	0.2188295	0.00467307351188698	0.10667	0.554377	0.28877	0	0.588066	0.40923	0	0.584781	0.30282	0	0.604944	0.38103	0	.	.	4.36	-0.549	0.11237	-1.882000	0.01716	-0.403000	0.09398	-0.717000	0.03845	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.4094:0.1512:0.2918:0.1476	1.145	0.01665	650	0.62973	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001515	0.000000	0.004087	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	726.53	31	chr16	2181299	.	G	A	726.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.538;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=-1.409;SOR=0.711	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1103	6	0	1	0
chr16	2187063	2187063	G	A	exonic	CASKIN1	.	nonsynonymous SNV	CASKIN1:NM_020764:exon9:c.C845T:p.A282V	.	.	.	.	.	.	.	.	.	.	.	2357114	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.301	0.0415735486965	8.2e-05	.	2.502e-05	0	0	0	0	4.543e-05	0	0	1.94e-05	3	154602	rs369517711	2.806e-05	2.873e-05	2.724e-05	2.889e-05	0.0002	2.087e-05	1.879e-05	2.083e-05	1.782e-05	0	0	3.828e-05	0	0	0.0002	2.878e-05	0.0001	0	7.887e-05	7.88e-05	7.71e-05	8.072e-05	0.0001	4.498e-05	3.513e-05	4.766e-05	3.34e-05	9.652e-05	0	0	0.0003	0	0	0	0.0001	0	0	0.066	0.36113	T	0.009	0.66756	D	0.995	0.67487	D	0.836	0.59919	P	.	.	.	.	0.999995	0.58761	D	1.905	0.50856	L	-0.37	0.68892	T	-2.84	0.59873	D	0.527	0.55626	-0.3900	0.72342	T	0.316	0.68558	T	9	0.36108917	0.52737	T	0.041574	0.60002	D	0.301	0.62179	.	.	0.650018665118	0.64711	0.7427933353591443	0.74225	0.944256503279	0.72345	0.665437459946	0.62186	T	0.066403	0.32937	T	-0.246077	0.14584	T	-0.375914	0.36199	T	0.457394367318163	0.31070	T	0.839416	0.51368	T	0.15614083	0.35251	0.21080692	0.45483	0.15614083	0.35251	0.21080692	0.45482	-12.172	0.85679	D	.	.	0.205	0.43088	B	.	.	4.843760	0.79105	27.0	0.99902116571198796	0.97350	0.73945	0.36169	D	AEFBI	0.423752	0.48920	N	0.244017321443299	0.53342	3.503657	0.206603436717673	0.50212	3.215763	0.999997849428455	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.81	4.81	0.61401	1.759000	0.38049	7.521000	0.59763	0.676000	0.76740	0.719000	0.28811	1.000000	0.68203	0.178000	0.21234	0.0:0.0:1.0:0.0	16.600	0.84665	654	0.62520	SH3 domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1008.45	36	chr16	2187063	.	G	A	1008.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.269;DP=277;ExcessHet=0;FS=0.779;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=2.12;SOR=0.724	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1071	6	0	1	0
chr16	2246926	2246926	G	A	exonic	ECI1	.	nonsynonymous SNV	ECI1:NM_001178029:exon3:c.C227T:p.T76M,ECI1:NM_001919:exon3:c.C227T:p.T76M	.	429	1039	50	4	0	58	0.0271536	.	.	.	967234	Complex_I_deficiency|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.425	.	0.0028	0.00658946	0.0083	0.0006	0.0030	0	0.0017	0.0055	0.0089	0.0349	0.007432	1149	154602	rs112729404	0.0053	0.0053	0.0042	0.0064	0.0349	0.0052	0.0051	0.0338	0.0334	0.0010	0.0021	0.0174	7.557e-05	0.0016	0.0282	0.0031	0.0067	0.0349	0.0036	0.0036	0.0032	0.0041	0.0299	0.0034	0.0033	0.0259	0.0244	0.0007	0	0.0026	0.0135	0.0004	0.0012	0.0646	0.0037	0.0033	0.0299	0.072	0.34982	T	0.072	0.48336	T	0.943	0.55554	P	0.344	0.42549	B	0.000000	0.84330	N	0.050039	1	0.81001	D	2.23	0.63091	M	-0.37	0.68892	T	-3.35	0.66436	D	0.467	0.51851	-0.7118	0.59864	T	0.228	0.59372	T	10	0.0073796213	0.00168	T	.	.	.	0.425	0.73299	.	.	0.353125101423	0.34923	0.791210419671449	0.79073	0.23438854129	0.25976	0.49139213562	0.37632	T	0.400195	0.75784	T	-0.173626	0.24687	T	0.00358432	0.70568	D	0.0677868819702007	0.08337	T	0.89861	0.64536	D	0.44832537	0.63935	0.29479742	0.55511	0.44832537	0.63936	0.29479742	0.55510	-7.575	0.58136	D	.	.	0.157	0.46949	B	.;.;.;.	.;.;.;.	3.230173	0.44050	21.9	0.88066581068473471	0.17691	0.95841	0.66383	D	AEFBCI	0.818677	0.73988	D	-0.134269476967074	0.35905	2.068471	-0.218506891995213	0.30872	1.742091	0.605736620092496	0.21763	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.21	3.22	0.36041	6.130000	0.71403	8.347000	0.77005	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.045000	0.14751	0.0817:0.1478:0.7705:0.0	9.082	0.35717	556	0.71678	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.025706	0.015152	0.010870	0.032164	0.050000	0.008621	0.036810	0.049242	0.1429	901.34	27	chr16	2246926	.	G	A	901.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.56;DP=225;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=1.63;SOR=0.739	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	5	0	2	0
chr16	2298532	2298532	G	A	exonic	ABCA3	.	nonsynonymous SNV	ABCA3:NM_001089:exon15:c.C1750T:p.P584S	Surfactant metabolism dysfunction, pulmonary, 3, Autosomal recessive	4	1505	13	0	0	13	0.00430036	.	.	.	334209	Interstitial_lung_disease_due_to_ABCA3_deficiency|not_provided	MONDO:MONDO:0012582,MedGen:C1970456,OMIM:610921,Orphanet:440402|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.457	0.175679297751	.	0.000599042	0.0004	0	0	0	0	0.0001	0.0033	0.0019	0.000304	47	154602	rs552751331	0.0002	0.0002	0.0001	0.0002	0.0043	0.0002	0.0002	0.0030	0.0025	0	0	0	0	0	0.0043	7.194e-06	0.0003	0.0024	0.0002	0.0002	7.709e-05	0.0002	0.0046	0.0001	9.233e-05	0.0031	0.0026	2.406e-05	0	0	0	0	0	0	0	0.0005	0.0046	0.219	0.19710	T	0.171	0.32568	T	0.51	0.37313	P	0.491	0.47360	P	0.000026	0.55875	D	0.158011	0.995268	0.42614	D	0.065	0.08236	N	-3.18	0.93111	D	-5.39	0.85247	D	0.172	0.24135	0.058	0.83388	D	0.623	0.86738	D	10	0.021826655	0.00531	T	0.175679	0.85168	D	0.457	0.75551	0.371	0.38176	0.826080846998	0.82443	0.7753279826621574	0.77482	0.647531300315	0.58134	0.548421025276	0.45635	T	0.840464	0.96275	D	-0.20104	0.20656	T	-0.066794	0.65855	T	0.137538442050611	0.16061	T	0.893711	0.63166	D	0.19321193	0.41021	0.38244492	0.63230	0.18191598	0.39385	0.30364206	0.56393	-6.402	0.49525	T	0.4143687769581481	0.50416	0.112	0.26074	B	.;.	.;.	3.884201	0.56469	23.7	0.9557369231556192	0.27270	0.97000	0.72113	D	AEFDBI	0.552431	0.56410	D	-0.339378056154319	0.27664	1.519642	-0.253066599010928	0.29665	1.663895	0.0165522585230617	0.12845	0.732398	0.92422	0	0.670034	0.63936	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	6.17	5.21	0.72005	5.735000	0.68231	6.015000	0.52706	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0714:0.0:0.7878:0.1408	9.97	0.40918	628	0.65206	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	729.53	50	chr16	2298532	.	G	A	729.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.18;DP=232;ExcessHet=0;FS=1.088;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=0.807;SOR=0.515	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	6	0	1	0
chr16	2453450	2453450	C	T	exonic	CCNF	.	nonsynonymous SNV	CCNF:NM_001323538:exon14:c.C704T:p.T235I,CCNF:NM_001761:exon15:c.C1628T:p.T543I	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0140012083216	.	.	8.27e-06	0	0	0	0	1.507e-05	0	0	6.5e-06	1	154602	rs756914411	1.095e-05	1.094e-05	8.168e-06	1.375e-05	0.0002	6.48e-06	5.24e-06	9.24e-06	4.56e-06	0	0	3.826e-05	0	0	0.0002	6.295e-06	6.624e-05	3.478e-05	2.629e-05	2.627e-05	2.57e-05	2.691e-05	4.828e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.828e-05	0	0	0.0003	0	0	0	1.471e-05	0	0	0.024	0.47745	D	0.132	0.34477	T	0.13	0.27095	B	0.043	0.24256	B	0.012791	0.29054	N	0.404642	1	0.08975	N	0	0.06538	N	1.92	0.23082	T	-1.08	0.28084	N	0.733	0.73375	-1.0322	0.19745	T	0.028	0.12014	T	10	0.43384826	0.57665	T	0.014001	0.33816	T	0.033	0.08068	0.329	0.31357	0.812780994167	0.81102	0.18211160250140376	0.18130	0.2470217962	0.27239	0.426400125027	0.28717	T	0.133706	0.46454	T	-0.422253	0.01655	T	-0.662786	0.08079	T	0.0325455706213846	0.02395	T	0.675032	0.28342	T	0.044715922	0.07196	0.044455793	0.05764	0.044715922	0.07196	0.044455793	0.05763	-5.721	0.43880	T	0.12899921847087084	0.13426	0.114	0.22753	B	.	.	1.274558	0.16738	12.73	0.91715376249635683	0.21011	0.63868	0.32224	D	AEFBI	0.209597	0.33556	N	-0.95470347732574	0.09587	0.4544071	-0.904663330088351	0.11984	0.6138395	0.78964570685932	0.23992	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.92	1.31	0.20837	2.116000	0.41553	4.492000	0.43575	-0.136000	0.12710	0.953000	0.33222	0.999000	0.35428	0.016000	0.10718	0.4567:0.4608:0.0825:0.0	7.268	0.25414	725	0.54935	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1556.44	35	chr16	2453450	.	C	T	1556.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.431;DP=340;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=0.249;SOR=0.696	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1335	6	0	1	0
chr16	2498269	2498269	A	G	exonic	TBC1D24	.	nonsynonymous SNV	TBC1D24:NM_020705:exon3:c.A997G:p.N333D,TBC1D24:NM_001199107:exon4:c.A1015G:p.N339D	DOOR syndrome, Autosomal recessive;Deafness , autosomal recessive 86, Autosomal recessive;Deafness, autosomal dominant 65, Autosomal dominant;Epileptic encephalopathy, early infantile, 16, Autosomal recessive;Myoclonic epilepsy, infantile, familial, Autosomal recessive	0	1514	8	0	0	8	0.00263505	.	.	.	135987	Caused_by_mutation_in_the_TBC1_domain_family,_member_24|Developmental_and_epileptic_encephalopathy,_1|Autosomal_dominant_nonsyndromic_hearing_loss_65|Developmental_and_epileptic_encephalopathy,_16|DOORS_syndrome|Familial_infantile_myoclonic_epilepsy|Autosomal_recessive_nonsyndromic_hearing_loss_86|Rolandic_epilepsy-paroxysmal_exercise-induced_dystonia-writer's_cramp_syndrome|Inborn_genetic_diseases|not_specified|not_provided	MedGen:CN236805|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044,Orphanet:90635|MONDO:MONDO:0014133,MedGen:C3809173,OMIM:615338,Orphanet:293181,Orphanet:352596|MONDO:MONDO:0009079,MedGen:C0795934,OMIM:220500,Orphanet:3231,Orphanet:79500|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021,Orphanet:352582|MONDO:MONDO:0013826,MedGen:C2829265,OMIM:614617,Orphanet:90636|MONDO:MONDO:0011970,MedGen:C1842531,OMIM:608105,Orphanet:163727|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.079	0.0224450329948	.	0.000199681	0.0002	0	0.0002	0	0	0.0002	0.0016	0.0004	0.0001294	20	154602	rs574768683	8.908e-05	8.893e-05	7.496e-05	0.0001	0.0007	7.635e-05	7.179e-05	0.0005	0.0005	0	8.99e-05	3.84e-05	0	0	0.0007	3.871e-05	0.0003	0.0007	3.942e-05	3.938e-05	5.142e-05	2.688e-05	0.0002	1.715e-05	1.129e-05	.	.	0	0	6.539e-05	0	0.0002	0	0	1.471e-05	0.0009	0.0002	0.156	0.24090	T	0.183	0.29346	T	0.043	0.21573	B	0.056	0.26147	B	0.000000	0.84330	D	0.049072	0.999997	0.58761	D	2.245	0.63543	M	1.85	0.24472	T	-1.17	0.29933	N	0.569	0.59223	-1.0898	0.05565	T	0.079	0.31284	T	10	0.06048754	0.07437	T	0.022445	0.45340	T	0.079	0.23065	0.357	0.35897	0.714927017511	0.71242	0.5681514173713282	0.56743	0.388624941282	0.40126	0.551847457886	0.46119	T	0.006905	0.06335	T	-0.414461	0.01857	T	-0.47121	0.25385	T	0.0455463528633118	0.04701	T	0.772923	0.40417	T	0.26647803	0.49718	0.21272406	0.45753	0.26647803	0.49717	0.21272406	0.45752	-2.195	0.04016	T	0.339533876675239	0.43734	0.135	0.39134	B	.;.;.;.;.;.	.;.;.;.;.;.	3.373538	0.46632	22.3	0.95729288666771828	0.27667	0.99138	0.91786	D	AEFBIJ	0.857813	0.77523	D	0.070169884101363	0.45074	2.770199	0.204054564905116	0.50073	3.203131	0.999981054995233	0.51787	0.675385	0.55134	0	0.653731	0.59785	0	0.693117	0.63056	0	0.635551	0.53088	0	.	.	5.6	5.6	0.84997	6.261000	0.72470	11.152000	0.87379	0.747000	0.86732	1.000000	0.71638	1.000000	0.68203	0.774000	0.36673	1.0:0.0:0.0:0.0	14.627	0.68230	706	0.57215	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	283.45	34	chr16	2498269	.	A	G	283.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.4;DP=214;ExcessHet=0;FS=1.323;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.46;ReadPosRankSum=-0.197;SOR=0.87	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr16	2770683	2770683	C	T	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon14:c.C8215T:p.P2739S	.	430	996	89	7	0	103	0.0491647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	.	0.0023	0.00958466	0.0188	0.0018	0.0151	0	0	0.0053	0.025	0.0420	0.0049482	765	154602	rs138495768	0.0047	0.0047	0.0036	0.0058	0.0438	0.0046	0.0046	0.0394	0.0377	0.0007	0.0026	0.0042	2.763e-05	0.0001	0.0438	0.0025	0.0065	0.0388	0.0035	0.0035	0.0029	0.0041	0.0344	0.0032	0.0031	0.0301	0.0285	0.0006	0	0.0060	0.0026	0.0002	0	0.0306	0.0031	0.0066	0.0344	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000011	0.62929	D	0.000000	0.720634	0.33614	D	0.55	0.14455	N	0.33	0.58323	T	-1.53	0.37178	N	0.386	0.42737	-0.4492	0.70427	T	0.192	0.54389	T	10	0.007466644	0.00170	T	.	.	.	0.190	0.46781	.	.	0.595214673487	0.59199	0.12494821746765934	0.12420	.	.	0.456650614738	0.32852	T	0.215958	0.57798	T	-0.330918	0.06043	T	-0.219549	0.52781	T	0.0301538723058847	0.02013	T	0.748625	0.36937	T	0.36156985	0.57956	0.40821308	0.65145	0.36156985	0.57956	0.40821308	0.65145	-4.674	0.33088	T	.	.	0.131	0.28174	B	.	.	3.829761	0.55346	23.6	0.947188900019729	0.25389	0.82683	0.41877	D	AEFDGBHCI	0.632421	0.61304	D	0.504954797921864	0.67383	5.074224	0.538789430895942	0.70620	5.532223	0.999999999999159	0.74766	0.675202	0.55065	0	0.697927	0.68747	0	0.67197	0.60751	0	0.711	0.71501	0	.	.	5.65	5.65	0.86881	2.149000	0.41869	7.631000	0.62734	0.599000	0.40250	0.908000	0.31627	1.000000	0.68203	0.887000	0.42601	0.0:1.0:0.0:0.0	15.222	0.73011	769	0.49307	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.032753	0.005263	0.027624	0.044643	0.000000	0.051724	0.040625	0.046154	0.07143	1393.44	37	chr16	2770683	.	C	T	1393.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.405;DP=293;ExcessHet=0;FS=0.757;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=-0.351;SOR=0.805	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr16	2798545	2798545	C	T	exonic	PRSS41	.	nonsynonymous SNV	PRSS41:NM_001354586:exon1:c.C61T:p.P21S	.	402	1112	8	0	0	8	0.00358423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0015	0	0	0	0.0099	0.0077	0.0010	0.0006145	95	154602	rs756773582	0.0010	0.0010	0.0010	0.0010	0.0044	0.0010	0.0010	0.0029	0.0025	0.0001	0.0007	0.0185	0	9.179e-05	0.0044	0.0007	0.0019	0.0009	0.0010	0.0010	0.0011	0.0010	0.0011	0.0009	0.0008	0.0007	0.0007	0.0002	0	0.0011	0.0179	0	0.0003	0	0.0009	0.0009	0.0008	.	.	.	.	.	.	0.198	0.29589	B	0.037	0.23121	B	.	.	.	.	.	.	.	2.255	0.64187	M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0078049004	0.00177	T	.	.	.	.	.	.	.	.	.	0.46102531465918634	0.46020	.	.	0.601210236549	0.53075	T	0.076314	0.35389	T	.	.	.	.	.	.	.	.	.	0.439856	0.12136	T	0.035383645	0.04153	0.06390067	0.12726	0.035383645	0.04153	0.06390067	0.12726	-4.593	0.32083	T	.	.	0.100	0.16929	B	.	.	0.753424	0.11232	7.862	0.79280523314063123	0.12671	0.05610	0.11516	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.00714425141342811	0.11395	0.070351	0.01505	0	0.090787	0.02525	0	0.097195	0.03014	1	0.057841	0.00900	0	0.0450783	0.04177	2.7	1.59	0.22622	0.244000	0.17899	0.047000	0.13948	0.463000	0.21641	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.7037:0.2963:0.0	6.761	0.22725	516	0.74704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	122.49	17	chr16	2798545	.	C	T	122.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.205;DP=96;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-0.888;SOR=1.022	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,543	6	0	1	0
chr16	2799467	2799467	A	G	exonic	PRSS41	.	nonsynonymous SNV	PRSS41:NM_001354586:exon3:c.A478G:p.N160D	.	425	1088	9	0	0	9	0.00411899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020	0.000798722	0.0026	0.0004	0	0	0	0.0050	0.0041	0.0013	0.0006274	97	154602	rs192768989	0.0011	0.0010	0.0011	0.0011	0.0049	0.0010	0.0010	0.0035	0.0030	0.0001	0.0009	0.0188	0	0.0001	0.0049	0.0007	0.0021	0.0013	0.0011	0.0011	0.0011	0.0012	0.0016	0.0010	0.0009	0.0011	0.0010	0.0002	0	0.0016	0.0182	0	0.0003	0	0.0010	0.0009	0.0010	.	.	.	.	.	.	0.943	0.53072	P	0.739	0.55653	P	.	.	.	.	.	.	.	0.885	0.21608	L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004555404	0.00094	T	.	.	.	.	.	.	.	.	.	0.8861531642545919	0.88584	.	.	0.307435840368	0.11519	T	0.36385	0.72953	T	.	.	.	.	.	.	.	.	.	0.531447	0.17660	T	0.06646948	0.14306	0.1342713	0.32178	0.06646948	0.14306	0.1342713	0.32177	-7.526	0.57793	D	.	.	0.115	0.23005	B	.	.	1.230747	0.16252	12.42	0.68083136029113001	0.08550	0.71889	0.35210	D	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999505634468401	0.40062	0.077785	0.01820	0	0.063388	0.01293	0	0.074216	0.02223	0	0.088932	0.02473	0	0.554365	0.40152	4.53	4.53	0.55009	2.265000	0.42968	-2.085000	0.04236	0.756000	0.94297	0.256000	0.24909	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	12.096	0.53057	513	0.74941	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002814	0.000000	0.008333	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	764.48	37	chr16	2799467	.	A	G	764.48	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.53;DP=311;ExcessHet=0;FS=1.57;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.22;ReadPosRankSum=0.216;SOR=0.701	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1569	6	0	1	0
chr16	2820960	2820960	C	T	exonic	PRSS21	.	nonsynonymous SNV	PRSS21:NM_006799:exon5:c.C556T:p.P186S,PRSS21:NM_144956:exon5:c.C550T:p.P184S,PRSS21:NM_144957:exon5:c.C556T:p.P186S	.	410	1089	23	0	0	23	0.0104498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	.	0.0019	0.00299521	0.0031	0.0002	0.0003	0	0.0006	0.0029	0.0033	0.0104	0.002846	440	154602	rs145458572	0.0021	0.0021	0.0018	0.0023	0.0108	0.0020	0.0020	0.0102	0.0100	0.0001	0.0006	0.0264	0	0.0005	0.0083	0.0010	0.0035	0.0108	0.0018	0.0018	0.0017	0.0018	0.0097	0.0016	0.0015	0.0075	0.0067	0.0003	0	0.0008	0.0256	0	0.0006	0.0034	0.0014	0.0014	0.0097	0.018	0.50676	D	0.016	0.60972	D	0.878	0.48285	P	0.546	0.49068	P	.	.	.	.	1	0.08975	N	0.455	0.12820	N	-1.46	0.80983	T	-6.3	0.90771	D	0.31	0.34981	-0.7005	0.60414	T	0.358	0.72030	T	9	0.0046268404	0.00096	T	.	.	.	0.241	0.54641	.	.	0.758461003238	0.75627	0.5397952186582754	0.53904	0.0608772362246	0.06772	0.38820451498	0.23417	T	0.557618	0.85134	D	-0.332486	0.05925	T	-0.240974	0.50703	T	0.0601563427714356	0.07193	T	.	.	.	0.11250847	0.26580	0.18286486	0.41241	0.11250847	0.26580	0.18286486	0.41240	-8.028	0.66047	D	.	.	0.182	0.43517	B	.;.	.;.	2.187022	0.27882	17.61	0.99551586408465798	0.71148	0.14244	0.18300	N	AEFGBHCI	0.140409	0.26231	N	-0.493193280047539	0.22304	1.189977	-0.644826564799261	0.18347	0.9797162	0.988381457249832	0.31499	0.706298	0.61202	0	0.709663	0.81188	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.96	1.85	0.24418	1.680000	0.37224	0.586000	0.19767	0.587000	0.30956	0.655000	0.28216	0.098000	0.22634	0.010000	0.09038	0.1611:0.6427:0.1962:0.0	7.988	0.29385	514	0.74853	.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.004076	0.000000	0.000000	0.000000	0.012195	0.011364	0.07143	486.44	34	chr16	2820960	.	C	T	486.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.91;DP=253;ExcessHet=0;FS=2.707;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-1.694;SOR=1.171	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	6	0	1	0
chr16	2821426	2821426	G	A	exonic	PRSS21	.	nonsynonymous SNV	PRSS21:NM_006799:exon6:c.G766A:p.V256M,PRSS21:NM_144956:exon6:c.G760A:p.V254M,PRSS21:NM_144957:exon6:c.G724A:p.V242M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.705	0.0212299698915	.	.	4.127e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs766212468	4.925e-05	4.925e-05	2.45e-05	7.425e-05	0.0007	3.992e-05	3.669e-05	0.0005	0.0005	2.987e-05	4.472e-05	0	2.519e-05	0	0.0002	7.194e-06	1.656e-05	0.0007	3.285e-05	3.94e-05	1.284e-05	5.379e-05	0.0008	1.261e-05	7.98e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.97372	D	.	.	.	.	0.996328	0.43140	D	3.035	0.86516	M	-1.9	0.84628	D	-2.91	0.60982	D	0.548	0.57433	0.865	0.95215	D	0.814	0.93715	D	9	0.6827338	0.71377	D	0.02123	0.43966	T	0.705	0.89422	0.779	0.90388	0.895369457183	0.89433	0.48428621684978057	0.48348	0.138102438505	0.15570	0.536145448685	0.43902	T	0.678518	0.90535	D	-0.0722027	0.40975	T	-0.00523136	0.69996	D	0.728084653839463	0.42111	D	.	.	.	0.47012922	0.65298	0.55601645	0.74320	0.47012922	0.65298	0.55601645	0.74321	-11.118	0.84058	D	.	.	0.849	0.81740	P	.;.	.;.	4.526975	0.71028	25.6	0.99869696101777472	0.94726	0.87200	0.46668	D	AEFDGBHCI	0.584144	0.58309	D	0.748304673765389	0.82793	7.851559	0.608245068673474	0.75537	6.32821	0.999998760609596	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.96	3.96	0.45097	6.106000	0.71175	5.375000	0.48439	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.811000	0.38219	0.0:0.0:1.0:0.0	13.618	0.61591	529	0.73716	.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1461.44	37	chr16	2821426	.	G	A	1461.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.06;DP=333;ExcessHet=0;FS=6.327;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-0.218;SOR=0.839	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	6	0	1	0
chr16	2855712	2855712	C	T	exonic	PRSS22	.	nonsynonymous SNV	PRSS22:NM_022119:exon4:c.G421A:p.D141N	.	415	1103	3	1	0	5	0.00226142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.566271429208	.	.	0.0002	0	0	0	0	0	0	0.0017	0.0001811	28	154602	rs758552545	0.0001	0.0001	8.031e-05	0.0002	0.0017	0.0001	0.0001	0.0014	0.0014	0	0	0	0	0	0.0005	2.698e-05	0.0002	0.0017	1.971e-05	1.97e-05	0	4.034e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.977e-05	0	0	0	0	0	0	0	0	0	0.0006	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.996	0.84481	D	0.000036	0.55875	D	0.000000	1	0.81001	D	2.905	0.84014	M	-3.36	0.94067	D	-4.93	0.81755	D	0.753	0.75192	1.056	0.98239	D	0.916	0.97223	D	10	0.93874747	0.93202	D	0.566271	0.96060	D	0.881	0.96502	0.936	0.99075	0.953045386324	0.95254	0.989466728533498	0.98940	1.00121662946	0.74413	0.579710483551	0.50045	T	0.668946	0.90152	D	-0.133903	0.30867	T	0.0276181	0.72124	D	0.555653810501099	0.34690	D	.	.	.	0.7684707	0.81956	0.65886736	0.80018	0.7684707	0.81958	0.65886736	0.80019	-8.738	0.65994	D	.	.	0.788	0.76723	P	.	.	4.566198	0.72000	25.8	0.999014503325235	0.97350	0.98434	0.82737	D	AEFDBI	0.788432	0.71792	D	0.799199820824057	0.86054	8.764562	0.677503878321843	0.80673	7.351623	0.999953339614368	0.48110	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.48	4.48	0.53973	5.051000	0.64074	5.854000	0.50366	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.286000	0.24163	0.0:1.0:0.0:0.0	15.524	0.75625	840	0.37365	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	585.49	33	chr16	2855712	.	C	T	585.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.13;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.89;ReadPosRankSum=-1.374;SOR=0.622	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1145	6	0	1	0
chr16	3015360	3015360	C	G	exonic	CLDN6	.	stoploss	CLDN6:NM_021195:exon2:c.G662C:p.X221S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201318784	8.77e-06	8.893e-06	7.17e-06	1.043e-05	0.0002	4.68e-06	3.69e-06	4.73e-06	2.33e-06	0	0	0	0	0	0.0002	7.484e-06	1.777e-05	2.849e-05	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.29675	N	.	.	.	.	.	.	.	.	.	0.091	0.06990	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.565593	0.00235	T	-0.86682	0.00773	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.122157	0.15080	11.57	0.6509231073695072	0.07675	0.49372	0.28418	N	AEFBHCI	.	.	.	0.416514817399105	0.62330	4.44716	0.0940843839544674	0.44250	2.710438	0.999788702096139	0.43007	0.139865	0.03177	0	0.059962	0.00310	0	0.292527	0.05481	0	0.079188	0.02158	0	0.19682	0.30312	4.77	0.065	0.13668	1.034000	0.29811	.	.	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.595000	0.31264	0.0:0.8035:0.0:0.1965	10.428	0.43577	764	0.49969	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	574.63	33	chr16	3015360	.	C	G	574.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.319;DP=190;ExcessHet=0;FS=1.414;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.41;ReadPosRankSum=0.784;SOR=0.469	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr16	3026272	3026272	C	T	exonic	THOC6	.	nonsynonymous SNV	THOC6:NM_001142350:exon5:c.C346T:p.R116C,THOC6:NM_024339:exon5:c.C346T:p.R116C,THOC6:NM_001347703:exon6:c.C274T:p.R92C,THOC6:NM_001347704:exon6:c.C346T:p.R116C	Beaulieu-Boycott-Innes syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.0295790687759	7.7e-05	.	4.123e-05	0	0.0002	0	0	2.999e-05	0	6.056e-05	3.23e-05	5	154602	rs374952281	7.525e-06	7.524e-06	5.445e-06	9.626e-06	8.944e-05	4.04e-06	2.95e-06	2.985e-05	1.804e-05	0	8.944e-05	0	2.519e-05	0	0	2.698e-06	1.656e-05	2.319e-05	6.574e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.024	0.56640	D	0.023	0.77913	B	0.002	0.59428	B	0.000008	0.62929	N	0.103831	0.999848	0.50402	D	1.78	0.46185	L	1.61	0.28391	T	-0.11	0.08653	N	0.405	0.46274	-1.0545	0.13172	T	0.111	0.39935	T	10	0.18333688	0.33656	T	0.029579	0.52060	D	0.111	0.31313	.	.	0.451118754121	0.44735	0.5149417651871719	0.51417	0.130440611418	0.14714	0.414686620235	0.27105	T	0.03269	0.22596	T	-0.268725	0.11899	T	-0.42681	0.30299	T	0.150590851902962	0.17150	T	0.905609	0.67884	D	0.48036888	0.65923	0.103681825	0.24883	0.48036888	0.65924	0.103681825	0.24883	-6.861	0.55811	T	0.7093450235173921	0.78934	0.112	0.35519	B	.;.;.;.	.;.;.;.	2.921471	0.38785	20.8	0.97351090445525201	0.33525	0.14747	0.18564	N	AEFBCI	0.178324	0.30558	N	-0.273761379760645	0.30164	1.679445	-0.295370710201705	0.28252	1.573659	0.999838346365954	0.43792	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.55	4.59	0.56297	0.938000	0.28562	.	.	0.599000	0.40250	0.063000	0.21864	0.999000	0.35428	0.125000	0.19370	0.0:0.9176:0.0:0.0824	12.423	0.54867	721	0.55360	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	4160.26	47	chr16	3026272	.	C	T	4160.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.53;DP=488;ExcessHet=0.3476;FS=4.479;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=0.771;SOR=0.94	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	5	0	2	0
chr16	3205171	3205171	G	A	exonic	OR1F1	.	nonsynonymous SNV	OR1F1:NM_012360:exon3:c.G925A:p.V309M,OR1F1:NM_001370639:exon4:c.G955A:p.V319M,OR1F1:NM_001370640:exon4:c.G955A:p.V319M,OR1F1:NM_001370641:exon5:c.G925A:p.V309M	.	.	.	.	.	.	.	.	.	.	.	3570536	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.00409149543801	.	.	8.66e-06	0	0	0	0	0	0	6.412e-05	6.5e-06	1	154602	rs765251088	1.306e-05	1.368e-05	1.502e-05	1.107e-05	0.0002	8.35e-06	6.73e-06	3.001e-05	2.042e-05	0	0	0	0	0	0.0002	9.032e-06	3.329e-05	6.974e-05	1.315e-05	1.314e-05	1.285e-05	1.346e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.18	0.21968	T	0.295	0.20680	T	0.002	0.09854	B	0.002	0.06944	B	0.034173	0.01782	N	2.531040	1	0.08975	N	1.04	0.26193	L	8.19	0.00279	T	-0.18	0.09796	N	0.11	0.09631	-0.9371	0.43072	T	0.001	0.00188	T	10	0.05593592	0.06192	T	0.004091	0.09775	T	0.022	0.04323	0.342	0.33464	0.110078149338	0.10416	0.0599690267401265	0.05936	0.00230504125883	0.00198	0.241143465042	0.02894	T	0.00527	0.04719	T	-0.407767	0.02057	T	-0.722875	0.04658	T	0.0378383159938972	0.03304	T	0.20258	0.02331	T	0.022013327	0.00837	0.03354585	0.02268	0.022013327	0.00837	0.03354585	0.02268	-4.889	0.35611	T	.	.	0.109	0.20663	B	.	.	0.312120	0.06872	3.405	0.32769948656790049	0.01917	0.00122	0.00764	N	AEFDBI	0.019555	0.00689	N	-1.17014777140774	0.05456	0.2487916	-1.17705393656324	0.06295	0.3025474	1.52160499245641E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.95	1.37	0.21200	0.569000	0.23342	.	.	-0.378000	0.05405	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.65:0.0:0.1881:0.1619	3.750	0.08087	725	0.54935	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	492.63	54	chr16	3205171	.	G	A	492.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.778;DP=256;ExcessHet=0;FS=1.105;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=-0.308;SOR=0.929	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	6	0	1	0
chr16	3224601	3224601	C	G	exonic	ZNF200	.	nonsynonymous SNV	ZNF200:NM_001145446:exon5:c.G476C:p.S159T,ZNF200:NM_001145447:exon5:c.G476C:p.S159T,ZNF200:NM_001145448:exon5:c.G476C:p.S159T,ZNF200:NM_003454:exon5:c.G479C:p.S160T,ZNF200:NM_198087:exon5:c.G476C:p.S159T,ZNF200:NM_198088:exon5:c.G479C:p.S160T	.	.	.	.	.	.	.	.	.	.	.	3631358	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.020	0.00238376039512	.	.	2.541e-05	0	0	0	0	3.05e-05	0	6.736e-05	1.94e-05	3	154602	rs765495787	1.322e-05	1.368e-05	1.379e-05	1.265e-05	0.0002	8.46e-06	6.82e-06	3.073e-05	2.089e-05	0	0	0	0	0	0.0002	9.102e-06	3.375e-05	7.175e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.547e-05	0	0	0	0	1.47e-05	0	0.0002	0.581	0.06847	T	0.52	0.10465	T	0.275	0.31898	B	0.059	0.26602	B	0.265879	0.15222	N	0.588619	1	0.08975	N	0.755	0.19153	N	3.33	0.06138	T	-0.14	0.11366	N	0.049	0.22357	-0.9478	0.41347	T	0.012	0.04463	T	10	0.061600506	0.07749	T	0.002384	0.04646	T	0.020	0.03691	0.194	0.10571	0.152612264143	0.14878	0.08033527125756784	0.07968	0.00824714859196	0.00747	0.297080993652	0.09967	T	0.015703	0.13121	T	-0.499817	0.00573	T	-0.845671	0.01017	T	0.0126367177783232	0.00211	T	0.39926	0.10706	T	0.03523465	0.04107	0.03910371	0.03927	0.03523465	0.04107	0.03910371	0.03926	-3.784	0.20610	T	.	.	0.133	0.29642	B	.;.;.;.;.;.	.;.;.;.;.;.	0.687568	0.10564	7.270	0.66498761409808294	0.08077	0.00092	0.00608	N	AEFBCI	0.049122	0.08454	N	-0.76039247904343	0.14352	0.7142398	-0.749550660292549	0.15733	0.8289385	6.31013077080377E-4	0.07482	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.05	1.95	0.25130	-0.950000	0.03999	.	.	-0.217000	0.08171	0.000000	0.06391	0.000000	0.08366	0.599000	0.31363	0.1885:0.6228:0.0:0.1887	4.475	0.11151	764	0.49969	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	419.83	26	chr16	3224601	.	C	G	419.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.758;DP=144;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.15;ReadPosRankSum=-1.108;SOR=0.56	GT:AD:DP:GQ:PL	0/0:34,0:34:81:0,81,1215	6	0	1	0
chr16	3300458	3300458	G	T	exonic	TIGD7	.	nonsynonymous SNV	TIGD7:NM_033208:exon2:c.C157A:p.L53M	.	.	.	.	.	.	.	.	.	.	.	2446734	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.227	0.00235087372163	.	.	0.0001	0	0	0	0	7.493e-05	0	0.0008	0.0001423	22	154602	rs772278462	9.919e-05	9.919e-05	8.031e-05	0.0001	0.0006	8.578e-05	8.048e-05	0.0005	0.0005	0	0	0	0	0	0.0002	7.014e-05	0.0002	0.0006	5.919e-05	5.912e-05	3.856e-05	8.08e-05	0.0008	3.08e-05	2.212e-05	0.0003	0.0002	0	0	0	0	0	0	0	7.35e-05	0	0.0008	0.036	0.43393	D	0.155	0.92824	T	1.0	0.90584	D	0.997	0.86255	D	0.013500	0.28825	U	0.000000	0.999347	0.21331	N	0.875	0.21512	L	0.78	0.49358	T	-0.56	0.17003	N	0.264	0.29889	-0.9772	0.35638	T	0.179	0.52551	T	10	0.0639402	0.08405	T	0.002351	0.04562	T	0.227	0.52620	.	.	0.0611884634855	0.05136	0.15904922354363255	0.15825	0.234577238011	0.26000	0.606083273888	0.53763	T	0.041927	0.26017	T	-0.402354	0.02235	T	-0.466298	0.25917	T	0.0608807028974357	0.07307	T	0.454055	0.12934	T	0.09572198	0.22533	0.05488703	0.09526	0.09572198	0.22532	0.05488703	0.09525	-4.717	0.33610	T	.	.	0.116	0.23430	B	.;.	.;.	2.757377	0.36155	20.2	0.99258848819929801	0.57155	0.42800	0.26958	N	AEFBI	0.051641	0.09144	N	0.0874379938403863	0.45876	2.83702	0.0435129165539668	0.41760	2.514227	0.274255792827338	0.18924	0.651	0.46895	0	0.708844	0.79440	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.29	3.2	0.35826	0.652000	0.24573	.	.	-0.116000	0.14526	0.989000	0.36753	1.000000	0.68203	0.981000	0.58702	0.8748:0.0:0.1252:0.0	5.795	0.17645	784	0.47045	DNA binding HTH domain, Psq-type;DNA binding HTH domain, Psq-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1145.44	90	chr16	3300458	.	G	T	1145.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.553;DP=269;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=-2.351;SOR=0.668	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,972	6	0	1	0
chr16	3356336	3356336	C	A	exonic	OR2C1	.	stopgain	OR2C1:NM_012368:exon1:c.C396A:p.Y132X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002434	0.36574	N	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.139	0.13769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288176	0.82005	D	0.176168	0.81773	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.472991	0.91297	32	0.99183461907206916	0.54760	0.42146	0.26813	N	AEFDBHCI	0.162545	0.28873	N	-0.0610205848171071	0.39113	2.301294	-0.408842299644395	0.24738	1.356325	0.00250583801210114	0.09486	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.63	0.537	0.16337	0.700000	0.25278	.	.	0.512000	0.23348	0.116000	0.23103	0.000000	0.08366	0.026000	0.12556	0.0:0.5318:0.0:0.4682	7.298	0.25581	659	0.61982	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	144.46	71	chr16	3356336	.	C	A	144.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.983;DP=590;ExcessHet=0;FS=48.75;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.03;ReadPosRankSum=2.35;SOR=5.891	GT:AD:DP:GQ:PL	0/0:137,0:137:99:0,120,1800	6	0	1	0
chr16	3436506	3436506	-	A	exonic	ZNF597	.	frameshift insertion	ZNF597:NM_152457:exon4:c.1192_1193insT:p.K398Ifs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	49.4	34	chr16	3436506	.	T	TA	49.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.94;ReadPosRankSum=-2.287;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1114:.	6	0	1	0
chr16	3436507	3436507	T	A	exonic	ZNF597	.	stopgain	ZNF597:NM_152457:exon4:c.A1192T:p.K398X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257439	0.15383	N	0.582312	0.999963	0.52935	D	.	.	.	.	.	.	.	.	.	0.095	0.07535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.363346	0.87509	D	0.284145	0.87348	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.284167	0.96354	36	0.99230170997366318	0.56183	0.21584	0.21453	N	AEDBI	0.104595	0.20923	N	0.38732127303648	0.60735	4.265709	0.15539970431401	0.47428	2.973257	0.0177302049982513	0.12982	0.615465	0.37627	0	0.636889	0.57051	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	4.76	4.76	0.60189	-0.133000	0.10430	.	.	0.665000	0.62972	0.000000	0.06391	0.985000	0.30750	0.780000	0.36908	0.1817:0.0:0.0:0.8183	7.992	0.29409	666	0.61362	Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	49.44	34	chr16	3436507	.	T	A	49.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.94;ReadPosRankSum=-2.287;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1114:.	6	0	1	0
chr16	3590393	3590393	T	C	exonic	SLX4	.	nonsynonymous SNV	SLX4:NM_032444:exon12:c.A3245G:p.Q1082R	Fanconi anemia, complementation group P, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	466421	Fanconi_anemia|Fanconi_anemia_complementation_group_P|not_specified	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951,Orphanet:84|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.026	.	.	0.00339457	0.0014	0	0	0	0	2.997e-05	0.0011	0.0104	0.0012872	199	154602	rs368657696	0.0006	0.0006	0.0003	0.0009	0.0097	0.0006	0.0006	0.0092	0.0090	2.987e-05	0	0	2.519e-05	0	0.0002	9.892e-06	0.0009	0.0097	0.0004	0.0004	0.0002	0.0006	0.0126	0.0003	0.0003	0.0101	0.0092	4.81e-05	0	0	0	0	0	0	0	0.0005	0.0126	0.166	0.23183	T	0.521	0.10429	T	0.261	0.31520	B	0.028	0.21332	B	0.041220	0.23974	N	0.400265	1	0.08975	N	1.585	0.39878	L	2.33	0.16492	T	-1.37	0.33998	N	0.099	0.08088	-1.0228	0.22802	T	0.022	0.09238	T	10	0.0028263032	0.00045	T	.	.	.	0.026	0.05648	0.179	0.08626	0.117506650769	0.11410	0.22418084585163975	0.22333	0.0627428871137	0.06987	0.265611290932	0.05577	T	0.056565	0.30323	T	-0.635745	0.00088	T	-0.678019	0.07105	T	0.0181518461379196	0.00537	T	0.309269	0.05988	T	0.06586952	0.14119	0.0564912	0.10102	0.06586952	0.14118	0.0564912	0.10102	-1.773	0.02430	T	.	.	0.106	0.19760	B	.	.	0.840750	0.12126	8.675	0.89382609978507388	0.18749	0.12475	0.17292	N	AEFDBI	0.063539	0.12286	N	-0.974790111647367	0.09144	0.4315802	-0.988303228256178	0.10048	0.5036185	0.998367062002545	0.36832	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	5.97	-0.439	0.11652	-0.045000	0.11957	.	.	-0.169000	0.11342	0.086000	0.22486	0.010000	0.20010	0.450000	0.27895	0.124:0.1425:0.2759:0.4577	1.755	0.02800	587	0.69154	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	2292.44	35	chr16	3590393	.	T	C	2292.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.948;DP=385;ExcessHet=0;FS=1.793;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=0.33;SOR=0.602	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr16	3655478	3655478	G	C	exonic	DNASE1	.	nonsynonymous SNV	DNASE1:NM_005223:exon2:c.G105C:p.E35D,DNASE1:NM_001351825:exon3:c.G105C:p.E35D	.	409	1101	11	1	0	13	0.00586907	.	.	.	2811000	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.020	0.00420915607097	0.0043	0.00179712	0.0040	0.0011	0.0024	0	0.0077	0.0057	0.0066	0.0002	0.0039391	609	154602	rs34907394	0.0048	0.0048	0.0048	0.0048	0.0094	0.0047	0.0047	0.0074	0.0067	0.0007	0.0030	0.0031	0	0.0066	0.0094	0.0054	0.0039	0.0007	0.0036	0.0036	0.0033	0.0039	0.0054	0.0033	0.0032	0.0050	0.0048	0.0007	0	0.0037	0.0020	0	0.0062	0.0068	0.0054	0.0057	0.0004	0.719	0.03937	T	1.0	0.01155	T	0.001	0.07471	B	0.008	0.13708	B	0.001348	0.39310	N	0.284400	1	0.81001	D	1.63	0.41750	L	0.32	0.58468	T	1.59	0.00660	N	0.156	0.16168	-1.0771	0.07922	T	0.057	0.23904	T	10	0.0064407587	0.00146	T	0.004209	0.10153	T	0.020	0.03691	0.37	0.38013	0.421550847248	0.41774	0.6230731396441008	0.62240	0.00669680874539	0.00592	0.41994330287	0.27828	T	0.070235	0.33909	T	-0.520298	0.00438	T	-0.51712	0.20587	T	0.00266594604911538	0.00028	T	0.728927	0.34400	T	0.25621912	0.48660	0.0993211	0.23709	0.25621912	0.48660	0.0993211	0.23708	-3.947	0.23008	T	.	.	0.163	0.35972	B	.;.	.;.	1.060269	0.14419	10.99	0.89907885940127696	0.19208	0.44793	0.27396	N	AEFBCI	0.113087	0.22328	N	-0.784045462461887	0.13725	0.6782469	-0.608971251152748	0.19262	1.032697	0.999670807394452	0.41644	0.722319	0.85440	0	0.577304	0.33150	0	0.698795	0.65105	0	0.491896	0.07777	0	.	.	5.39	2.35	0.28166	0.603000	0.23848	.	.	-0.113000	0.14837	0.978000	0.35038	0.966000	0.29516	0.993000	0.69303	0.1622:0.1532:0.5448:0.1399	2.783	0.05036	596	0.68392	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.005051	0.008152	0.014620	0.000000	0.017241	0.003049	0.003788	0.1429	3353.29	34	chr16	3655478	.	G	C	3353.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.594;DP=450;ExcessHet=0.3476;FS=2.462;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=2.93;SOR=0.722	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	2	0
chr16	3656744	3656744	C	T	exonic	DNASE1	.	nonsynonymous SNV	DNASE1:NM_005223:exon5:c.C427T:p.R143W,DNASE1:NM_001351825:exon6:c.C427T:p.R143W	.	404	1112	6	0	0	6	0.00269058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.0326298370451	0.0002	.	5.062e-05	0	0.0001	0	0	4.632e-05	0	8.295e-05	2.59e-05	4	154602	rs374554105	2.199e-05	2.326e-05	2.049e-05	2.35e-05	0.0003	1.591e-05	1.362e-05	6.096e-05	3.413e-05	0	2.263e-05	0	0	0	0.0003	1.533e-05	6.649e-05	9.406e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0.0005	0	0.001	0.78490	D	0.004	0.76473	D	0.876	0.48154	P	0.111	0.31539	B	0.003950	0.34294	N	0.323006	1	0.81001	D	1.1	0.28011	L	0.61	0.53516	T	-2.39	0.52612	N	0.237	0.26717	-0.9531	0.40433	T	0.086	0.33326	T	10	0.19837108	0.35804	T	0.03263	0.54402	D	0.213	0.50496	.	.	0.670421039873	0.66764	0.6508658138558806	0.65022	0.00684574193027	0.00603	0.3275847435	0.14570	T	0.553837	0.84941	D	-0.0762363	0.40325	T	-0.257554	0.49069	T	0.66365659236908	0.39057	D	0.610439	0.23144	T	0.26006982	0.49062	0.23253497	0.48416	0.26006982	0.49062	0.23253497	0.48415	-7.333	0.56430	T	.	.	0.123	0.27523	B	.;.;.	.;.;.	4.159102	0.62453	24.5	0.99721703183084776	0.82125	0.46302	0.27730	N	AEFDBHCI	0.280013	0.39394	N	-0.134209633221015	0.35908	2.068654	-0.143917333031055	0.33642	1.926627	0.999999757350811	0.74766	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.27	5.27	0.73797	4.903000	0.62964	.	.	0.599000	0.40250	0.975000	0.34726	0.999000	0.35428	0.009000	0.08673	0.0:1.0:0.0:0.0	15.627	0.76617	600	0.68026	Endonuclease/exonuclease/phosphatase;Endonuclease/exonuclease/phosphatase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	233.21	35	chr16	3656744	.	C	T	233.21	.	AC=2;AF=0.143;AN=14;DP=216;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=29.15;SOR=1.179	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1176	6	1	0	0
chr16	3666024	3666024	A	T	exonic	TRAP1	.	nonsynonymous SNV	TRAP1:NM_001272049:exon11:c.T1171A:p.Y391N,TRAP1:NM_016292:exon12:c.T1330A:p.Y444N	.	428	1089	5	0	0	5	0.00229043	.	.	.	550041	TRAP1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.642	0.0998326846705	0.0066	0.00199681	0.0047	0.0022	0.0020	0	0.0009	0.0074	0.0011	0.0012	0.0048835	755	154602	rs61756351	0.0075	0.0075	0.0078	0.0071	0.0090	0.0074	0.0073	0.0089	0.0088	0.0015	0.0024	0.0042	0	0.0021	0.0005	0.0090	0.0071	0.0011	0.0047	0.0047	0.0050	0.0043	0.0081	0.0044	0.0043	0.0076	0.0074	0.0017	0	0.0028	0.0040	0	0.0017	0	0.0081	0.0052	0.0012	0.004	0.65419	D	0.007	0.70582	D	0.996	0.68779	D	0.985	0.76457	D	0.000051	0.53742	D	0.130829	1	0.81001	D	3.135	0.88152	M	2.9	0.10101	T	-7.84	0.96032	D	0.958	0.97207	-0.9271	0.44559	T	0.084	0.32786	T	10	0.022699267	0.00574	T	0.099833	0.77174	D	0.642	0.86384	.	.	0.492200611407	0.48855	0.8898202667928607	0.88952	0.112827264345	0.12733	0.760841012001	0.76054	T	0.396374	0.75502	T	-0.0845655	0.38970	T	0.116139	0.77977	D	0.0632158253167541	0.07664	T	0.984202	0.96411	D	0.96408725	0.97689	0.9319283	0.97227	0.96408725	0.97689	0.9319283	0.97227	-12.254	0.86066	D	0.5153874321856869	0.58849	0.473	0.72070	A	.;.;.	.;.;.	4.347056	0.66733	25.0	0.99168518606783984	0.54326	0.99624	0.98098	D	AEFBI	0.921353	0.89470	D	0.872593854108381	0.90354	10.36628	0.810796392552748	0.90534	10.45128	0.999857045511393	0.44174	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	8.672000	0.90914	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	1.0:0.0:0.0:0.0	15.291	0.73567	624	0.65661	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.003788	0.07143	1134.49	35	chr16	3666024	.	A	T	1134.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.485;DP=281;ExcessHet=0;FS=0.761;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-0.029;SOR=0.804	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1354	6	0	1	0
chr16	3966931	3966931	C	T	exonic	ADCY9	.	nonsynonymous SNV	ADCY9:NM_001116:exon11:c.G2906A:p.R969H	.	424	1086	11	1	0	13	0.00594966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0220263285353	0.0024	0.000998403	0.0030	0.0004	0.0006	0	0.0021	0.0040	0.0011	0.0041	0.0028266	437	154602	rs141519764	0.0043	0.0043	0.0044	0.0042	0.0049	0.0042	0.0041	0.0048	0.0048	0.0007	0.0005	0.0011	2.519e-05	0.0027	0.0038	0.0049	0.0025	0.0043	0.0024	0.0024	0.0025	0.0023	0.0042	0.0022	0.0021	0.0038	0.0036	0.0008	0	0.0005	0.0017	0	0.0018	0	0.0042	0.0019	0.0033	0.129	0.26852	T	0.146	0.32891	T	0.0	0.02946	B	0.0	0.01387	B	0.451710	0.04819	N	1.279070	1	0.08975	N	-1.1	0.00987	N	-1.67	0.82806	D	-0.18	0.09796	N	0.018	0.00252	-0.8630	0.51046	T	0.248	0.61704	T	10	0.005517155	0.00122	T	0.022026	0.44874	T	0.158	0.41098	.	.	0.389676119804	0.38580	0.43503127525865926	0.43420	0.521912766462	0.49941	0.176036298275	0.00063	T	0.232991	0.59969	T	-0.563579	0.00242	T	-0.577191	0.14797	T	0.000746427757740348	0.00007	T	0.132987	0.01049	T	0.01840083	0.00361	0.024957554	0.00525	0.01840083	0.00361	0.024957554	0.00525	-4.029	0.24236	T	.	.	0.072	0.04316	B	.	.	-0.486938	0.01909	0.159	0.94667691793333741	0.25290	0.01727	0.05464	N	AEFBI	0.054329	0.09869	N	-1.36423328599246	0.02980	0.1324126	-1.42667796427062	0.02988	0.1385306	0.758767126015653	0.23476	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.63	-7.33	0.01284	-2.254000	0.01265	.	.	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0978:0.5708:0.1979:0.1336	8.139	0.30232	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	535.63	41	chr16	3966931	.	C	T	535.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.589;DP=240;ExcessHet=0;FS=1.688;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.85;ReadPosRankSum=0.188;SOR=1.329	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr16	4657266	4657266	C	T	exonic	MGRN1	.	nonsynonymous SNV	MGRN1:NM_001142289:exon5:c.C464T:p.S155L,MGRN1:NM_001142290:exon5:c.C464T:p.S155L,MGRN1:NM_001142291:exon5:c.C464T:p.S155L,MGRN1:NM_015246:exon5:c.C464T:p.S155L	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0091298527593	.	0.00139776	0.0007	0.0002	8.64e-05	0	0	4.498e-05	0	0.0047	0.000608	94	154602	rs201648809	0.0003	0.0003	0.0002	0.0004	0.0038	0.0002	0.0002	0.0034	0.0033	0	4.472e-05	0.0002	7.558e-05	0	0.0010	2.698e-05	0.0003	0.0038	0.0001	0.0001	0.0001	0.0002	0.0037	9.736e-05	8.251e-05	0.0024	0.0020	0	0	6.534e-05	0	0	0	0	4.411e-05	0	0.0037	0.109	0.43085	T	0.163	0.35970	T	0.005	0.14184	B	0.008	0.13708	B	0.075984	0.21190	N	0.555550	1	0.08975	N	1.04	0.26193	L	1.48	0.31731	T	-3.9	0.72932	D	0.343	0.39254	-1.0368	0.18295	T	0.039	0.16849	T	10	0.0054759383	0.00121	T	0.00913	0.24012	T	0.031	0.07369	0.284	0.24121	0.115124310173	0.11017	0.1584534197375775	0.15766	0.0339777382968	0.03563	0.307101517916	0.11468	T	0.183717	0.84764	T	-0.611745	0.00124	T	-0.650965	0.08887	T	0.0302469440221988	0.02027	T	0.787421	0.45238	T	0.056994673	0.11285	0.07032015	0.14926	0.056994673	0.11284	0.07032015	0.14925	-10.735	0.79680	D	.	.	0.056	0.27702	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.883949	0.23932	16.20	0.90134510730098505	0.19414	0.17129	0.19702	N	AEFBCI	0.103458	0.20726	N	-1.25508898639113	0.04232	0.1906414	-1.22985918223021	0.05435	0.2590046	0.00586380301297077	0.11064	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.22	2.19	0.26890	1.639000	0.36791	0.791000	0.21569	-1.985000	0.00459	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.2929:0.55:0.0:0.1571	5.016	0.13679	659	0.61982	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	914.44	33	chr16	4657266	.	C	T	914.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.027;DP=247;ExcessHet=0;FS=4.632;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0;SOR=0.814	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1067	6	0	1	0
chr16	4695168	4695168	G	A	exonic	NUDT16L1	.	nonsynonymous SNV	NUDT16L1:NM_001370588:exon2:c.G364A:p.A122T,NUDT16L1:NM_001370585:exon3:c.G619A:p.A207T,NUDT16L1:NM_001370587:exon3:c.G505A:p.A169T,NUDT16L1:NM_032349:exon3:c.G625A:p.A209T	.	.	.	.	.	.	.	.	.	.	.	4031735	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.105	0.00375650198689	.	.	8.359e-06	0	0	0	0	1.527e-05	0	0	6.5e-06	1	154602	rs1166307538	2.054e-06	4.788e-06	1.363e-06	2.753e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	6.575e-06	6.568e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.087	0.32453	T	0.073	0.43159	T	0.0	0.02946	B	0.001	0.04355	B	0.000004	0.00162	N	7779.530000	1	0.30541	N	.	.	.	.	.	.	0.08	0.06026	N	0.074	0.08088	-1.0468	0.15303	T	0.050	0.21378	T	9	0.050840825	0.04876	T	0.003757	0.08744	T	0.105	0.29889	0.097	0.01334	0.0716867268079	0.06686	0.38189550467439864	0.38104	0.590954649114	0.54541	0.272372305393	0.06453	T	0.037653	0.24556	T	-0.349613	0.04751	T	-0.676325	0.07210	T	0.081094816327095	0.10126	T	0.563244	0.19836	T	0.12804925	0.29948	0.108658865	0.26178	0.12804925	0.29948	0.108658865	0.26177	-3.967	0.23308	T	.	.	0.069	0.06024	B	.;.	.;.	0.922620	0.12977	9.482	0.93185766996838038	0.22848	0.41204	0.26606	N	AEFDGBHCI	0.109282	0.21710	N	-1.02264089915325	0.08135	0.3803929	-1.02596876465443	0.09216	0.4572575	0.999999956312601	0.74766	0.766844	0.99359	0	0.696144	0.67643	0	0.851219	0.99655	0	0.662433	0.64102	0	.	.	3.85	-0.8	0.10347	0.869000	0.27648	1.253000	0.25182	0.676000	0.76740	0.593000	0.27690	0.685000	0.26142	0.155000	0.20479	0.233:0.1583:0.397:0.2117	0.723	0.00884	745	0.52414	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	21	chr16	4695168	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=180;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1221	6	1	0	0
chr16	4737837	4737837	G	A	exonic	C16orf71	.	nonsynonymous SNV	C16orf71:NM_139170:exon3:c.G167A:p.R56Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.0125169545423	.	.	1.648e-05	9.615e-05	0	0	0	1.5e-05	0	0	1.29e-05	2	154602	rs767265532	8.209e-06	8.209e-06	6.806e-06	9.626e-06	1.079e-05	4.38e-06	3.46e-06	5.75e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	4.826e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.003816	0.34463	N	0.000000	0.614654	0.30831	N	2.14	0.59869	M	2.66	0.12575	T	-3.68	0.70314	D	0.743	0.76481	-1.0024	0.29226	T	0.086	0.33550	T	10	0.5233655	0.62770	D	0.012517	0.31165	T	0.183	0.45592	0.55	0.66576	0.128392430309	0.12331	0.23683674325721266	0.23598	0.172259201057	0.19399	.	.	.	0.034611	0.23389	T	-0.0798622	0.39738	T	-0.170965	0.57354	T	0.975694537162781	0.71047	D	0.876412	0.59406	D	0.63442564	0.74534	0.5962639	0.76558	0.63442564	0.74535	0.5962639	0.76559	-7.842	0.59988	D	.	.	0.460	0.65372	A	.;.;.	.;.;.	4.944607	0.81627	27.6	0.99953703519670423	0.99963	0.93203	0.57594	D	AEFBI	0.595144	0.58981	D	0.646814778427543	0.76162	6.435947	0.59623374852995	0.74667	6.176572	0.999976352303138	0.50053	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.51	4.51	0.54589	5.257000	0.65294	11.514000	0.93015	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.837000	0.39485	0.0:0.0:1.0:0.0	14.934	0.70592	637	0.64373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	921.44	33	chr16	4737837	.	G	A	921.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.16;DP=275;ExcessHet=0;FS=2.668;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=-0.586;SOR=1.038	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	6	0	1	0
chr16	5033360	5033360	A	G	exonic	NAGPA	.	nonsynonymous SNV	NAGPA:NM_016256:exon2:c.T455C:p.V152A	.	418	1097	7	0	0	7	0.00318037	.	.	.	2347270	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.099	0.0297701984017	0.0005	.	0.0004	0.0003	9.414e-05	0	0.0006	0.0005	0	0.0002	0.0002458	38	154602	rs189630368	0.0002	0.0002	0.0002	0.0002	0.0037	0.0002	0.0002	0.0025	0.0021	2.99e-05	0.0001	3.831e-05	0	0.0005	0.0037	0.0002	0.0003	0.0003	0.0003	0.0003	0.0002	0.0005	0.0004	0.0002	0.0002	0.0003	0.0002	9.638e-05	0	0.0002	0	0	0.0009	0.0068	0.0004	0.0009	0.0004	0.002	0.72154	D	0.004	0.74150	D	0.982	0.60036	D	0.82	0.59072	P	0.010597	0.29863	N	0.321361	0.579819	0.31109	N	2.27	0.64531	M	1.27	0.36146	T	-3.5	0.68178	D	0.285	0.42443	-0.8085	0.54641	T	0.130	0.43989	T	10	0.12089977	0.22909	T	0.02977	0.52214	D	0.099	0.28413	.	.	0.36453787251	0.36064	0.7888937185436866	0.78841	0.892434076993	0.70274	0.714099824429	0.69187	T	0.725599	0.92279	D	-0.350144	0.04718	T	-0.393563	0.34135	T	0.0808357773658808	0.10093	T	0.893711	0.63166	D	0.43018097	0.62764	0.48477352	0.70176	0.43018097	0.62765	0.48477352	0.70176	-9.552	0.71684	D	.	.	0.440	0.67013	A	.;.	.;.	4.937271	0.81456	27.6	0.99688983829227673	0.79775	0.51418	0.28891	D	AEFDGBCI	0.637318	0.61615	D	0.126779434557327	0.47715	2.993331	0.191742262020659	0.49392	3.143062	0.999999999814813	0.74766	0.652421	0.48094	0	0.748881	0.99253	0	0.503968	0.08637	0	0.604282	0.37693	0	.	.	4.77	3.65	0.40985	6.677000	0.74337	7.864000	0.71599	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.8982:0.0:0.1018:0.0	7.876	0.28760	867	0.32089	Phosphodiester glycosidase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001013	0.000000	0.001362	0.000000	0.000000	0.000000	0.006211	0.000000	0.07143	910.45	38	chr16	5033360	.	A	G	910.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.264;DP=295;ExcessHet=0;FS=1.591;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.51;ReadPosRankSum=-0.318;SOR=0.514	GT:AD:DP:GQ:PL	0/1:64,43:107:99:921,0,1582	6	0	1	0
chr16	5090111	5090111	A	T	exonic	EEF2KMT	.	nonsynonymous SNV	EEF2KMT:NM_001289029:exon4:c.T532A:p.F178I,EEF2KMT:NM_201598:exon5:c.T613A:p.F205I,EEF2KMT:NM_201400:exon6:c.T715A:p.F239I	.	492	999	9	0	22	31	0.0044843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00634192903378	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1452029054	6.876e-06	6.225e-05	9.579e-06	4.146e-06	.	3.48e-06	2.54e-06	.	.	0	0	0	0	0.0002	0	0	0	0	5.39e-05	0.0016	7.912e-05	2.756e-05	0.0002	2.614e-05	1.871e-05	8.335e-05	5.972e-05	0.0002	0	6.655e-05	0	0	0	0	0	0	0	0.371	0.11514	T	0.718	0.06490	T	0.0	0.02946	B	0.001	0.08700	B	0.051195	0.23004	N	0.452369	0.881992	0.28033	N	.	.	.	2.34	0.16351	T	-1.25	0.32991	N	0.281	0.33030	-0.9925	0.31959	T	0.024	0.10374	T	10	0.07094821	0.10392	T	0.006342	0.16668	T	0.036	0.09122	.	.	0.0138822411134	0.00435	0.35754777867292564	0.35668	0.058414084822	0.06474	0.42506146431	0.28533	T	0.004978	0.04407	T	-0.245721	0.14628	T	-0.590737	0.13603	T	0.0609278567135334	0.07315	T	0.593841	0.21938	T	0.08025057	0.18378	0.07948541	0.17899	0.08025057	0.18377	0.07948541	0.17898	-8.801	0.67213	D	.	.	0.214	0.44332	B	.;.;.	.;.;.	1.578377	0.20203	14.64	0.9265268353958801	0.22130	0.35707	0.25364	N	AEFBCI	0.046411	0.07703	N	-0.713611160653821	0.15638	0.7898892	-0.621188378201589	0.18950	1.014565	1.76658864630672E-5	0.02871	0.706548	0.73137	0	0.577304	0.33150	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.02	1.62	0.22817	0.847000	0.27348	0.919000	0.22689	0.754000	0.88378	0.394000	0.26121	0.987000	0.30940	0.805000	0.37950	0.5683:0.0:0.4317:0.0	7.911	0.28954	884	0.28482	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	81.45	33	chr16	5090111	.	A	T	81.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.37;DP=215;ExcessHet=0;FS=4.122;MLEAC=1;MLEAF=0.071;MQ=55.71;MQRankSum=-5.86;QD=2.04;ReadPosRankSum=0.623;SOR=1.863	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1046	6	0	1	0
chr16	5090181	5090181	C	G	exonic	EEF2KMT	.	nonsynonymous SNV	EEF2KMT:NM_001289029:exon4:c.G462C:p.K154N,EEF2KMT:NM_201598:exon5:c.G543C:p.K181N,EEF2KMT:NM_201400:exon6:c.G645C:p.K215N	.	491	1020	11	0	0	11	0.00536324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00142779162467	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs112795938	4.886e-06	0.0047	4.173e-06	5.605e-06	3.378e-05	2.03e-06	1.31e-06	3e-07	1.1e-07	3.378e-05	2.267e-05	0	0	3.789e-05	0	1.831e-06	0	1.175e-05	0.0005	0.0043	0.0006	0.0004	0.0015	0.0004	0.0004	0.0012	0.0011	0.0015	0	0.0004	0	0.0002	0.0002	0	8.932e-05	0.0010	0.0002	1.0	0.00964	T	0.835	0.03663	T	0.0	0.02946	B	0.001	0.04355	B	0.000019	0.00348	N	24.680100	1	0.08975	N	.	.	.	3.32	0.07820	T	1.39	0.00925	N	0.194	0.21319	-0.9860	0.33590	T	0.009	0.03054	T	9	0.041027665	0.02722	T	0.001428	0.02139	T	0.021	0.04004	0.421	0.46365	0.0138822411134	0.00435	0.35689211218005856	0.35603	0.0505833985199	0.05556	0.274089753628	0.06682	T	0.004334	0.03739	T	-0.445631	0.01198	T	-0.877895	0.00672	T	0.0422141074880329	0.04094	T	0.243776	0.03556	T	0.030103331	0.02617	0.032476597	0.01988	0.030103331	0.02617	0.032476597	0.01988	-2.528	0.06466	T	.	.	0.056	0.03849	B	.;.;.	.;.;.	-0.425006	0.02121	0.201	0.52361600507666917	0.04733	0.01856	0.05735	N	AEFBCI	0.019369	0.00666	N	-1.31409601631361	0.03513	0.1570565	-1.35851709106572	0.03707	0.1734453	1.53276252840452E-5	0.02871	0.706548	0.73137	0	0.577304	0.33150	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.92	-0.636	0.10930	-1.648000	0.02097	0.337000	0.17343	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.2087:0.3334:0.3442:0.1137	2.694	0.04812	884	0.28482	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	62.49	33	chr16	5090181	.	C	G	62.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.366;DP=240;ExcessHet=0;FS=2.749;MLEAC=1;MLEAF=0.071;MQ=56.1;MQRankSum=-7.847;QD=0.92;ReadPosRankSum=-0.3;SOR=0.684	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1046	6	0	1	0
chr16	8644669	8644669	G	A	exonic	METTL22	.	nonsynonymous SNV	METTL22:NM_024109:exon10:c.G1123A:p.E375K	.	432	1077	13	0	0	13	0.00599908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	.	0.0056	0.00359425	0.0055	0.0009	0.0034	0	0.0144	0.0072	0.0058	0.0018	0.0052263	808	154602	rs55747257	0.0061	0.0061	0.0061	0.0062	0.0066	0.0060	0.0060	0.0065	0.0065	0.0010	0.0034	0.0059	0	0.0138	0.0045	0.0066	0.0054	0.0019	0.0055	0.0055	0.0051	0.0060	0.0070	0.0052	0.0051	0.0065	0.0063	0.0011	0	0.0048	0.0078	0	0.0177	0.0068	0.0070	0.0085	0.0014	0.317	0.18371	T	0.31	0.42976	T	0.533	0.37766	P	0.148	0.34065	B	0.000040	0.55875	D	0.119927	0.999999	0.58761	D	2.415	0.69758	M	2.18	0.31205	T	-1.57	0.37955	N	0.672	0.67995	-1.1263	0.01967	T	0.043	0.18368	T	10	0.0074471235	0.00169	T	.	.	.	0.086	0.25016	.	.	0.318540980066	0.31459	0.6970033788334739	0.69641	0.0219975581885	0.02206	0.454305291176	0.32533	T	0.002403	0.18459	T	-0.224012	0.17449	T	-0.0897088	0.64183	T	0.0149081626491843	0.00317	T	0.910709	0.68343	D	0.16271044	0.36365	0.20153543	0.44139	0.16271044	0.36365	0.20153543	0.44138	-9.845	0.72978	D	.	.	0.122	0.42606	B	.;.;.	.;.;.	3.676698	0.52308	23.2	0.99866159365050755	0.94457	0.95031	0.63186	D	AEFDBHCIJ	0.578372	0.57960	D	0.196895028551257	0.51050	3.289455	0.317079855366677	0.56543	3.817764	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	4.465000	0.59876	6.276000	0.55373	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.746000	0.35646	0.0:0.0:1.0:0.0	16.039	0.80454	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.005435	0.008772	0.000000	0.025862	0.012195	0.000000	0.07143	923.46	44	chr16	8644669	.	G	A	923.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.46;DP=416;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-1.355;SOR=0.643	GT:AD:DP:GQ:PL	0/0:104,0:104:99:0,120,1800	6	0	1	0
chr16	8847796	8847796	C	T	exonic	PMM2	.	nonsynonymous SNV	PMM2:NM_000303:exon8:c.C712T:p.R238C	Congenital disorder of glycosylation, type Ia, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	693952	PMM2-congenital_disorder_of_glycosylation|PMM2-related_disorder	MONDO:MONDO:0008907,MedGen:C0349653,OMIM:212065,Orphanet:79318|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.418	0.226394227831	0.0002	0.00199681	0.0010	0	0.0002	0.0001	0	4.533e-05	0	0.0070	0.0008603	133	154602	rs142459706	0.0006	0.0006	0.0003	0.0008	0.0084	0.0005	0.0005	0.0079	0.0077	8.962e-05	8.944e-05	0	5.038e-05	0	0.0005	6.296e-05	0.0005	0.0084	0.0004	0.0004	0.0002	0.0006	0.0110	0.0003	0.0003	0.0086	0.0078	4.811e-05	0	0	0	0.0004	0	0	0	0	0.0110	0.173	0.38633	T	0.222	0.26145	T	0.131	0.27154	B	0.044	0.24394	B	0.000811	0.41658	D	0.244270	0.978411	0.28041	N	2.375	0.68372	M	-4.97	0.98468	D	-2.74	0.66896	D	0.384	0.42541	0.498	0.90524	D	0.866	0.95536	D	10	0.018635482	0.00407	T	0.226394	0.88042	D	0.418	0.72780	.	.	0.867138899746	0.86584	0.8027065894096944	0.80224	0.00779372771097	0.00696	0.317496716976	0.13041	T	0.794771	0.99204	D	-0.18687	0.22718	T	-0.0357938	0.67983	D	0.0514738983896492	0.05757	T	0.90471	0.67021	D	0.22378522	0.45007	0.14660732	0.34727	0.2445064	0.47400	0.14297609	0.33994	-10.453	0.76577	D	0.2683558324690387	0.36141	0.134	0.35414	B	.;.;.	.;.;.	2.073924	0.26374	17.10	0.92081431171461292	0.21429	0.53129	0.29297	D	AEFDBHCI	0.256351	0.37529	N	-0.550592701161736	0.20465	1.079021	-0.517073407056868	0.21689	1.174516	0.99999241050245	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.22	3.27	0.36580	1.871000	0.39176	0.375000	0.17719	-0.173000	0.11020	0.263000	0.24978	0.025000	0.21018	0.019000	0.11356	0.2451:0.5916:0.0:0.1633	5.381	0.15493	934	0.15400	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1100.49	33	chr16	8847796	.	C	T	1100.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.03;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.956;SOR=0.792	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1320	6	0	1	0
chr16	10472122	10472124	TGT	-	exonic	ATF7IP2	.	nonframeshift deletion	ATF7IP2:NM_024997:exon8:c.1365_1367del:p.V456del,ATF7IP2:NM_001256160:exon9:c.1365_1367del:p.V456del,ATF7IP2:NM_001352120:exon9:c.1365_1367del:p.V456del	.	499	979	36	8	0	52	0.0258706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0084	0.00499201	0.0096	0.0018	0.0069	0.0001	0.0023	0.0119	0.0113	0.0152	0.0022284	58	26028	rs566280429	0.0090	0.0093	0.0088	0.0093	0.0263	0.0089	0.0088	0.0228	0.0215	0.0018	0.0068	0.0396	5.147e-05	0.0015	0.0263	0.0087	0.0099	0.0146	0.0078	0.0078	0.0081	0.0075	0.0129	0.0074	0.0073	0.0103	0.0095	0.0025	0.0022	0.0081	0.0415	0.0002	0.0018	0.0034	0.0104	0.0099	0.0129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026741	0.005102	0.023098	0.032164	0.050000	0.043103	0.042945	0.030303	0.07143	997.4	47	chr16	10472121	.	ATGT	A	997.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.311;DP=230;ExcessHet=0;FS=2.509;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.22;ReadPosRankSum=1.02;SOR=0.654	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1293	6	0	1	0
chr16	10694693	10694693	C	T	exonic	TEKT5	.	nonsynonymous SNV	TEKT5:NM_144674:exon1:c.G181A:p.V61I	.	430	1077	15	0	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0070	0.00159744	0.0071	0.0011	0.0029	0	0.0089	0.0108	0.0056	0.0020	0.0067205	1039	154602	rs138126929	0.0090	0.0089	0.0091	0.0088	0.0105	0.0088	0.0088	0.0103	0.0102	0.0009	0.0032	0.0054	0	0.0084	0.0021	0.0105	0.0092	0.0015	0.0070	0.0070	0.0077	0.0062	0.0115	0.0066	0.0065	0.0108	0.0106	0.0017	0	0.0063	0.0066	0	0.0069	0	0.0115	0.0057	0.0010	0.308	0.14111	T	0.406	0.14725	T	0.003	0.11197	B	0.002	0.06944	B	0.024995	0.01622	N	2.299810	1	0.08975	N	0.46	0.12951	N	4.11	0.02916	T	-0.49	0.15578	N	0.073	0.04668	-0.9453	0.41764	T	0.005	0.01761	T	10	0.0038414598	0.00073	T	.	.	.	0.015	0.02232	.	.	0.117506650769	0.11410	0.20483342377689734	0.20400	0.0228577877693	0.02315	0.251101672649	0.03885	T	0.012405	0.10910	T	-0.696014	0.00038	T	-0.759579	0.03128	T	0.00117707586328804	0.00011	T	0.255274	0.03954	T	0.029504377	0.02456	0.023197655	0.00334	0.029504377	0.02455	0.023197655	0.00334	-3.69	0.19171	T	.	.	0.068	0.02861	B	.	.	-0.675178	0.01379	0.079	0.84443608144586346	0.15295	0.08805	0.14679	N	AEFBI	0.070489	0.13996	N	-1.38179900226416	0.02809	0.1245622	-1.49804783514101	0.02360	0.1084401	0.964251543770108	0.28747	0.553676	0.25195	0	0.588015	0.36545	0	0.608075	0.38828	0	0.564101	0.26826	0	.	.	4.99	-6.92	0.01485	-0.691000	0.05234	.	.	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.192:0.341:0.0944:0.3726	1.764	0.02816	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.002717	0.000000	0.000000	0.008621	0.006098	0.003788	0.07143	572.53	53	chr16	10694693	.	C	T	572.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.16;DP=279;ExcessHet=0;FS=1.043;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=-0.656;SOR=0.536	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1411	6	0	1	0
chr16	10694767	10694767	T	C	exonic	TEKT5	.	nonsynonymous SNV	TEKT5:NM_144674:exon1:c.A107G:p.Y36C	.	431	1072	19	0	0	19	0.0087841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	0.0058	0.00379393	0.0060	0.0009	0.0016	0	0.0045	0.0085	0.0033	0.0061	0.0059378	918	154602	rs145995713	0.0071	0.0071	0.0069	0.0074	0.0085	0.0070	0.0070	0.0079	0.0079	0.0013	0.0024	0.0028	0	0.0045	0.0085	0.0081	0.0057	0.0068	0.0053	0.0053	0.0055	0.0050	0.0087	0.0050	0.0048	0.0081	0.0079	0.0012	0	0.0029	0.0020	0	0.0063	0.0204	0.0087	0.0062	0.0052	0.021	0.49117	D	0.014	0.62352	D	0.997	0.70673	D	0.912	0.64797	D	0.000032	0.55875	D	0.000000	0.999795	0.49177	D	2.87	0.83286	M	4.01	0.03208	T	-3.6	0.69357	D	0.248	0.28028	-1.1376	0.01450	T	0.022	0.09284	T	10	0.008492172	0.00192	T	.	.	.	0.197	0.47942	.	.	0.426318900417	0.42251	0.5549573341678947	0.55422	0.0398787629884	0.04262	0.432323753834	0.29526	T	0.088516	0.38176	T	-0.312477	0.07532	T	-0.212233	0.53482	T	0.0455695774744691	0.04706	T	0.69823	0.30825	T	0.13175678	0.30701	0.13245705	0.31784	0.13175678	0.30701	0.13245705	0.31783	-2.831	0.08472	T	.	.	0.098	0.16231	B	.	.	2.552558	0.33039	19.22	0.9845097854998458	0.41620	0.92028	0.54785	D	AEFDBI	0.446125	0.50232	N	0.459034230517197	0.64716	4.732678	0.404084745902414	0.61817	4.387482	0.998492518843582	0.37071	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	1.118000	0.30860	.	.	-0.109000	0.15193	1.000000	0.71638	0.999000	0.35428	0.150000	0.20306	0.0:0.0854:0.0:0.9146	8.719	0.33589	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.006793	0.017544	0.000000	0.017241	0.000000	0.011364	0.07143	927.46	36	chr16	10694767	.	T	C	927.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.436;DP=262;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.72;ReadPosRankSum=0.301;SOR=0.657	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1411	6	0	1	0
chr16	11411272	11411272	G	C	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon46:c.C6928G:p.P2310A	.	832	688	2	0	0	2	0.00145138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0014	0	0.0114	0	0	0.0012	0	0	0.0005563	86	154602	rs113673618	0.0026	0.0011	0.0027	0.0025	0.0031	0.0024	0.0024	0.0015	0.0014	0.0004	0.0005	0.0327	0	0.0002	0.0031	0.0016	0.0038	0.0013	0.0020	0.0020	0.0020	0.0020	0.0022	0.0018	0.0017	0.0016	0.0014	0.0003	0	0.0022	0.0401	0	0.0003	0	0.0016	0.0019	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004163742	0.00082	T	.	.	.	.	.	.	.	0.497280371566	0.49363	.	.	.	.	.	.	.	.	.	.	-0.521553	0.00431	T	-0.522789	0.20012	T	.	.	.	0.463154	0.13467	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.55521	B	.	.	2.787204	0.36630	20.3	0.57396105513439233	0.05760	0.51169	0.28833	D	AEFDGBHI	0.064846	0.12615	N	.	.	.	.	.	.	0.999999984255165	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	3.56	3.56	0.39892	3.135000	0.50241	4.719000	0.44495	0.590000	0.31872	0.746000	0.29090	1.000000	0.68203	0.006000	0.07323	0.0:0.0:1.0:0.0	10.982	0.46716	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	531.83	34	chr16	11411272	.	G	C	531.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.17;DP=238;ExcessHet=0;FS=0.939;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.71;ReadPosRankSum=1.32;SOR=0.873	GT:AD:DP:GQ:PL	0/1:42,27:69:99:542,0,958	6	0	1	0
chr16	11423223	11423223	G	C	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon42:c.C6340G:p.L2114V	.	1033	487	2	0	0	2	0.00204918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs547118809	0.0002	0.0001	0.0002	0.0002	0.0010	0.0002	0.0001	0.0003	0.0002	0.0001	0.0003	0	0	0	0	0.0003	6.104e-05	0.0010	0.0002	0.0002	0.0001	0.0002	0.0014	0.0001	8.71e-05	0.0007	0.0005	2.405e-05	0	0.0002	0.0003	0	0	0	0.0002	0	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048705876	0.04358	T	.	.	.	.	.	.	.	0.453401982733	0.44964	.	.	.	.	.	.	.	.	.	.	-0.392907	0.02576	T	-0.52786	0.19502	T	.	.	.	0.422958	0.11265	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.33458	B	.	.	1.941116	0.24657	16.48	0.45016428337973152	0.03503	0.63150	0.32000	D	AEFDBI	0.071453	0.14224	N	.	.	.	.	.	.	0.999662705737736	0.41534	0.615465	0.37627	0	0.491513	0.07743	0	0.658983	0.55881	0	0.562822	0.20929	0	.	.	3.7	3.7	0.41607	3.510000	0.53150	3.460000	0.38507	0.511000	0.23309	0.957000	0.33433	0.999000	0.35428	0.003000	0.05239	0.0:0.0:1.0:0.0	10.930	0.46423	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	160.4	44	chr16	11423223	.	G	C	160.4	.	AC=2;AF=0.143;AN=14;DP=315;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=33.71;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:65,0:65:99:.:.:0,120,1800:.	6	1	0	0
chr16	11494649	11494649	C	T	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon11:c.G1357A:p.G453S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1389068120	1.214e-05	7.952e-06	1.643e-05	7.975e-06	1.262e-05	3.23e-06	9e-07	2.1e-06	7.9e-07	0	0	0	0	0	0	1.262e-05	6.094e-05	0	6.572e-06	6.567e-06	0	1.346e-05	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09455955	0.16823	T	.	.	.	.	.	.	.	0.622937828947	0.61987	.	.	.	.	.	.	.	.	.	.	-0.129432	0.31588	T	-0.423697	0.30653	T	.	.	.	0.371963	0.08817	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.02894	B	.	.	-1.405647	0.00356	0.006	0.70692745237193044	0.09379	0.00186	0.01083	N	AEFDBI	0.021900	0.01031	N	.	.	.	.	.	.	0.999697535481898	0.41870	0.495158	0.18159	0	0.624146	0.53433	0	0.535252	0.11790	0	0.635259	0.50027	0	.	.	4.22	-1.66	0.07824	-0.946000	0.04015	-9.031000	0.00877	-0.984000	0.01883	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.182:0.2776:0.5404	4.909	0.13166	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	786.83	33	chr16	11494649	.	C	T	786.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.31;DP=241;ExcessHet=0;FS=0.898;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=0.464;SOR=0.624	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,103,1113	6	0	1	0
chr16	11927475	11927475	G	0	exonic	NPIPB2	.	.	.	.	1	10	87	120	8	335	0.942363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	15944.5	149	chr16	11927475	.	G	*	15944.5	.	AC=3;AF=0.214;AN=14;BaseQRankSum=2.05;DP=856;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=19.83;ReadPosRankSum=0.428;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,57:135:99:1|0:11927441_GTTCCACCTCAGCGGCCCTCCGCCTCTTGGGTTCGGGTGGTGA_G:4431,2325,3038:11927441	5	1	1	0
chr16	12403495	12403495	G	A	exonic	SNX29	.	nonsynonymous SNV	SNX29:NM_032167:exon18:c.G2003A:p.R668Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.032576923482	.	.	2.769e-05	0	0.0002	0	0	2.571e-05	0	0	1.94e-05	3	154602	rs768619037	2.678e-05	2.805e-05	2.457e-05	2.902e-05	2.993e-05	2.005e-05	1.761e-05	1.63e-05	1.385e-05	2.993e-05	2.26e-05	0	0	0	0	2.343e-05	0.0001	2.364e-05	4.607e-05	4.598e-05	6.43e-05	2.696e-05	6.561e-05	2.112e-05	1.529e-05	1.972e-05	1.125e-05	4.837e-05	0	6.561e-05	0	0	0	0	5.882e-05	0	0	0.179	0.22573	T	0.354	0.17268	T	.	.	.	.	.	.	0.000011	0.62929	D	0.069170	0.864899	0.28298	N	1.265	0.31966	L	1.52	0.30669	T	-1.32	0.39314	N	0.684	0.69037	-1.0366	0.18357	T	0.094	0.35604	T	8	0.22176406	0.38910	T	0.032577	0.54365	D	.	.	.	.	0.309530620856	0.30565	0.43431702678518536	0.43348	.	.	0.649030447006	0.59848	T	0.04314	0.26408	T	-0.152862	0.27865	T	-0.32419	0.42114	T	0.541759192943573	0.34169	D	0.936706	0.80758	D	0.085861094	0.19934	0.10875785	0.26204	0.085861094	0.19934	0.10875785	0.26203	-8.259	0.62821	D	.	.	0.122	0.33110	B	.;.;.	.;.;.	4.539046	0.71334	25.7	0.99947144923474995	0.99913	0.86894	0.46278	D	AEFBI	0.545245	0.55984	D	0.313605922818647	0.56846	3.850111	0.401782080918332	0.61675	4.371076	0.999997032058454	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.24	5.24	0.72863	6.950000	0.75778	8.544000	0.77503	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	16.331	0.82847	938	0.14419	Phox homologous domain|Phox homologous domain|SNX29, PX domain;Phox homologous domain|Phox homologous domain|SNX29, PX domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	258.27	33	chr16	12403495	.	G	A	258.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.818;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.62;ReadPosRankSum=-1.505;SOR=0.818	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1211	5	0	1	1
chr16	12705044	12705044	G	A	exonic	CPPED1	.	nonsynonymous SNV	CPPED1:NM_018340:exon3:c.C295T:p.P99S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.0483874317473	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1018532906	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.711	0.05506	T	0.013	0.16609	B	0.042	0.24114	B	0.014892	0.28400	N	0.414873	1	0.08975	N	1.87	0.49600	L	-1.76	0.83578	D	-1.82	0.42763	N	0.189	0.20660	-0.7347	0.58725	T	0.406	0.75586	T	10	0.20411348	0.36591	T	0.048387	0.63349	D	0.148	0.39182	0.269	0.21735	0.352693368174	0.34879	0.3559156494393688	0.35505	0.0544959346374	0.06029	0.302505910397	0.10776	T	0.132243	0.46222	T	-0.0509294	0.44304	T	-0.310933	0.43557	T	0.404345780611038	0.29106	T	0.779722	0.41422	T	0.06675794	0.14395	0.096282504	0.22871	0.06675794	0.14395	0.096282504	0.22870	-5.38	0.40726	T	.	.	0.117	0.23779	B	.	.	1.828414	0.23235	15.94	0.93538462872402239	0.23363	0.62314	0.31744	D	AEFBI	0.219512	0.34438	N	-0.513027389135475	0.21659	1.151023	-0.444589105895788	0.23703	1.294	0.00262227979024001	0.09584	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.7	4.73	0.59485	2.327000	0.43517	4.025000	0.41286	0.671000	0.69459	0.933000	0.32380	0.997000	0.33255	0.056000	0.15673	0.0:0.3123:0.6876:0.0	12.942	0.57749	964	0.07719	Calcineurin-like phosphoesterase domain, ApaH type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	27	chr16	12705044	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1178	6	1	0	0
chr16	14246715	14246715	G	T	exonic	MRTFB	.	nonsynonymous SNV	MRTFB:NM_001365411:exon10:c.G1422T:p.L474F,MRTFB:NM_001365413:exon10:c.G1242T:p.L414F,MRTFB:NM_001365414:exon10:c.G1242T:p.L414F,MRTFB:NM_001308142:exon12:c.G1455T:p.L485F,MRTFB:NM_014048:exon12:c.G1455T:p.L485F,MRTFB:NM_001365412:exon13:c.G1455T:p.L485F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0119177124728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.14694	T	0.462	0.12526	T	0.603	0.39389	P	0.178	0.35748	B	0.825938	0.06912	N	1.086380	1	0.08975	N	.	.	.	.	.	.	-0.43	0.14390	N	0.126	0.20262	-1.0297	0.20551	T	0.069	0.28313	T	9	0.05294901	0.05408	T	0.011918	0.30017	T	0.043	0.11576	0.167	0.07186	0.128874641272	0.12493	0.3295804326600133	0.32871	0.167289057197	0.18870	0.294227004051	0.09543	T	.	.	.	-0.208466	0.19596	T	-0.537224	0.18570	T	0.0880497074665617	0.10984	T	0.69953	0.30934	T	.	.	.	.	.	.	.	.	-5.809	0.44653	T	.	.	0.073	0.04640	B	.;.;.	.;.;.	1.600173	0.20457	14.76	0.97009825456721965	0.31977	0.20917	0.21215	N	AEFBI	0.087155	0.17672	N	-0.707398047074075	0.15814	0.8002656	-0.745597326336302	0.15830	0.8345245	0.999788726659595	0.43007	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.93	2.47	0.29113	1.085000	0.30452	2.976000	0.35819	-0.106000	0.15538	0.001000	0.13787	1.000000	0.68203	0.094000	0.17991	0.3032:0.0:0.5423:0.1545	4.692	0.12168	556	0.71678	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	101.44	35	chr16	14246715	.	G	T	101.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.842;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=1.37;SOR=0.368	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	6	0	1	0
chr16	14247387	14247389	TGT	-	exonic	MRTFB	.	nonframeshift deletion	MRTFB:NM_001365411:exon10:c.2094_2096del:p.V700del,MRTFB:NM_001365413:exon10:c.1914_1916del:p.V640del,MRTFB:NM_001308142:exon12:c.2127_2129del:p.V711del,MRTFB:NM_001365412:exon13:c.2127_2129del:p.V711del	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.671e-05	0	8.694e-05	0	0	1.521e-05	0	0	1.94e-05	3	154602	rs750046044	3.011e-05	3.01e-05	2.723e-05	3.301e-05	0.0003	2.282e-05	2.033e-05	6.092e-05	3.272e-05	5.974e-05	2.236e-05	0	0	0	0.0003	2.608e-05	3.312e-05	9.275e-05	2.627e-05	2.626e-05	2.568e-05	2.689e-05	2.411e-05	8.14e-06	5.14e-06	.	.	2.411e-05	0	0	0	0	0.0002	0	1.469e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	187.4	35	chr16	14247386	.	CTGT	C	187.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.589;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.82;ReadPosRankSum=-1.437;SOR=1.022	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	6	0	1	0
chr16	14447062	14447062	C	T	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon22:c.G1552A:p.V518I,PARN:NM_001134477:exon23:c.G1507A:p.V503I,PARN:NM_002582:exon23:c.G1690A:p.V564I	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	431	1041	48	2	0	52	0.0243674	.	.	.	429763	not_provided|Dyskeratosis_congenita,_autosomal_recessive_6|Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_4|not_specified	MedGen:C3661900|MONDO:MONDO:0014600,MedGen:C4225356,OMIM:616353|MONDO:MONDO:0014612,MedGen:C4225347,OMIM:616371,Orphanet:2032|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.119	.	0.0073	0.00599042	0.0092	0.0011	0.0038	0	0.0020	0.0106	0.0090	0.0199	0.0090361	1397	154602	rs35722504	0.0094	0.0094	0.0091	0.0097	0.0175	0.0092	0.0092	0.0166	0.0163	0.0012	0.0037	0.0210	5.039e-05	0.0019	0.0175	0.0096	0.0102	0.0173	0.0067	0.0067	0.0069	0.0066	0.0203	0.0064	0.0063	0.0170	0.0158	0.0017	0	0.0066	0.0193	0	0.0015	0.0170	0.0095	0.0099	0.0203	0.079	0.38863	T	0.212	0.26714	T	0.006	0.13644	B	0.006	0.12133	B	0.044615	0.01935	N	2.052200	1	0.08975	N	0.805	0.20218	L	.	.	.	-0.42	0.14193	N	0.054	0.06322	-0.9948	0.31352	T	0.063	0.26065	T	9	0.002854675	0.00046	T	.	.	.	0.119	0.33137	.	.	0.193865811164	0.18958	0.0963495934639145	0.09566	0.110193835077	0.12434	0.251484751701	0.03926	T	0.021653	0.16823	T	-0.615878	0.00117	T	-0.643162	0.09441	T	0.00869064704499961	0.00107	T	0.650635	0.26150	T	0.038499925	0.05140	0.05202924	0.08493	0.036931377	0.04637	0.04864813	0.07268	-4.677	0.36381	T	.	.	0.070	0.04806	B	.;.;.;.	.;.;.;.	1.351161	0.17589	13.25	0.98114141245208752	0.38375	0.11818	0.16881	N	AEFDBI	0.033924	0.04112	N	-0.586871005853647	0.19342	1.011559	-0.481498412176652	0.22663	1.232	0.999999520260864	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.41	4.45	0.53365	0.727000	0.25667	0.255000	0.16475	0.599000	0.40250	0.002000	0.15269	0.000000	0.08366	0.998000	0.85391	0.0:0.8472:0.1528:0.0	13.809	0.62745	923	0.18507	.;.;.;.	.	.	.	.	rs35722504	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014617	0.010101	0.006793	0.002924	0.200000	0.025862	0.027607	0.022727	0.07143	603.63	35	chr16	14447062	.	C	T	603.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.574;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=-0.159;SOR=0.575	GT:AD:DP:GQ:PL	0/1:34,29:63:99:614,0,856	6	0	1	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W,PARN:NM_001134477:exon17:c.C984G:p.C328W,PARN:NM_002582:exon17:c.C1167G:p.C389W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	551.23	39	chr16	14582206	.	G	C	551.23	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.814;DP=853;ExcessHet=3.1439;FS=358.834;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.89;ReadPosRankSum=1.7;SOR=11.434	GT:AD:DP:GQ:PL	0/1:123,84:228:99:357,0,1591	2	0	4	1
chr16	14667708	14667711	CCCC	-	exonic	BFAR	.	frameshift deletion	BFAR:NM_001330500:exon6:c.859_862del:p.P287Sfs*45,BFAR:NM_016561:exon8:c.1234_1237del:p.P412Sfs*45	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	509.4	33	chr16	14667707	.	GCCCC	G	509.4	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.08;DP=285;ExcessHet=0.3476;FS=60.878;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=3.8;ReadPosRankSum=0.563;SOR=6.439	GT:AD:DP:GQ:PL	0/1:57,20:77:99:416,0,2218	5	0	2	0
chr16	14667711	14667711	-	TGGG	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insTGGG:p.I289Gfs*18,BFAR:NM_016561:exon8:c.1237_1238insTGGG:p.I414Gfs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	435.86	32	chr16	14667711	.	C	CTGGG	435.86	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.64;DP=287;ExcessHet=0.4139;FS=69.45;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=3.66;ReadPosRankSum=0.847;SOR=6.725	GT:AD:DP:GQ:PL	0/1:57,16:76:99:378,0,2236	4	0	2	1
chr16	14880084	14880084	G	A	exonic	NOMO1;NOMO3	.	nonsynonymous SNV	NOMO3:NM_001004067:exon24:c.G2827A:p.E943K,NOMO1:NM_014287:exon24:c.G2827A:p.E943K	.	569	952	1	0	0	1	0.000524934	.	.	.	2213338	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.077	0.00414520650661	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310250376	5.481e-05	5.472e-05	5.998e-05	4.958e-05	6.656e-05	4.483e-05	4.153e-05	5.423e-05	4.967e-05	2.994e-05	0	0	0	1.872e-05	0	6.656e-05	4.983e-05	1.161e-05	1.99e-05	1.972e-05	3.883e-05	0	4.428e-05	5.29e-06	2.47e-06	1.175e-05	6.26e-06	0	0	0	0	0	0	0	4.428e-05	0	0	0.357	0.12032	T	0.234	0.47336	T	0.291	0.32334	B	0.009	0.14300	B	0.000006	0.62929	D	0.108387	0.998864	0.45582	D	1.04	0.26193	L	1.39	0.33842	T	-1.44	0.35399	N	0.343	0.40164	-1.0765	0.08043	T	0.060	0.25054	T	10	0.18920434	0.34509	T	0.004145	0.09931	T	0.077	0.22490	0.467	0.53891	0.280987212366	0.27714	0.27475592011951716	0.27388	.	.	0.760634303093	0.76023	T	0.017437	0.23362	T	-0.389066	0.02728	T	-0.527343	0.19552	T	0.217559486627579	0.21342	T	0.980602	0.93381	D	0.2091893	0.43178	0.15138324	0.35662	0.2091893	0.43178	0.15138324	0.35661	-7.229	0.55689	T	.	.	0.187	0.40392	B	.;.;.	.;.;.	4.039470	0.59798	24.1	0.99741908353416198	0.83555	0.82943	0.42106	D	AEFI	0.304248	0.41200	N	-0.127492260682672	0.36197	2.089121	-0.0315160277147745	0.38298	2.25448	8.41926995843755E-5	0.04703	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	3.04	3.04	0.34171	5.639000	0.67541	11.662000	0.93998	0.325000	0.19437	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	11.950	0.52235	814	0.42100	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	280.49	37	chr16	14880084	.	G	A	280.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.342;DP=196;ExcessHet=0;FS=1.713;MLEAC=1;MLEAF=0.071;MQ=36.54;MQRankSum=-1.695;QD=12.75;ReadPosRankSum=0.1;SOR=0.355	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,988	6	0	1	0
chr16	15873574	15873574	A	G	exonic	CEP20	.	nonsynonymous SNV	CEP20:NM_001304500:exon3:c.T167C:p.I56T,CEP20:NM_144600:exon4:c.T365C:p.I122T,CEP20:NM_001304499:exon5:c.T437C:p.I146T	.	432	1089	1	0	0	1	0.000458926	.	.	.	3296757	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.00171447179013	.	.	1.65e-05	0	0	0	0	3e-05	0	0	1.29e-05	2	154602	rs769626874	3.763e-05	3.762e-05	3.948e-05	3.575e-05	0.0009	2.96e-05	2.656e-05	0.0003	0.0002	0	0	0	0	0	0.0009	4.317e-05	3.312e-05	0	6.57e-06	6.566e-06	1.285e-05	0	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.727	0.03846	T	0.583	0.08419	T	0.001	0.07471	B	0.004	0.10090	B	0.444040	0.04777	N	1.292320	0.787086	0.34339	D	1.735	0.44892	L	.	.	.	0.25	0.04456	N	0.055	0.08506	-1.0336	0.19300	T	0.045	0.19234	T	9	0.044449806	0.03403	T	0.001714	0.02856	T	0.027	0.05988	0.386	0.40624	0.0551355673512	0.04727	0.052995925729285756	0.05241	0.0160666637987	0.01538	0.335759282112	0.15803	T	0.004462	0.05862	T	-0.262741	0.12582	T	-0.45882	0.26729	T	0.0236721020191908	0.01104	T	0.60064	0.26349	T	0.03097581	0.02854	0.039078433	0.03920	0.03097581	0.02853	0.039078433	0.03920	-2.557	0.06183	T	.	.	0.119	0.35077	B	.;.;.;.	.;.;.;.	1.538715	0.19735	14.41	0.80630096731018397	0.13294	0.30597	0.24123	N	AEFBIJ	0.050083	0.08717	N	-0.813547600339716	0.12963	0.635416	-0.715210129675138	0.16582	0.8778911	0.984883863224759	0.30791	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.63	1.48	0.21900	1.437000	0.34601	2.102000	0.30609	0.754000	0.88378	0.842000	0.30316	0.835000	0.27248	0.985000	0.61073	0.4341:0.305:0.1133:0.1476	1.606	0.02523	624	0.65661	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	345.27	34	chr16	15873574	.	A	G	345.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.149;DP=198;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=1.43;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1101	5	0	1	1
chr16	16114882	16114882	C	T	exonic	ABCC1	.	nonsynonymous SNV	ABCC1:NM_004996:exon23:c.C3196T:p.R1066W	.	414	1098	10	0	0	10	0.00453309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.728	0.189988391345	0.0009	0.000399361	0.0011	0	0.0003	0.0005	0	0.0014	0.0023	0.0018	0.001022	158	154602	rs199773531	0.0011	0.0011	0.0010	0.0011	0.0071	0.0010	0.0010	0.0054	0.0048	0.0001	0.0008	3.828e-05	0.0005	0.0005	0.0071	0.0011	0.0013	0.0018	0.0006	0.0006	0.0005	0.0007	0.0010	0.0005	0.0005	0.0008	0.0007	0.0002	0	0.0003	0.0003	0.0004	0.0006	0.0068	0.0010	0.0009	0.0010	0.003	0.68238	D	0.005	0.72224	D	0.786	0.44460	P	0.343	0.42509	B	0.000020	0.62929	D	0.122813	0.999967	0.52935	D	2.66	0.77858	M	-2.64	0.90147	D	-3.82	0.71997	D	0.641	0.74644	0.902	0.95697	D	0.744	0.91277	D	10	0.11178079	0.20944	T	0.189988	0.86096	D	0.728	0.90457	.	.	0.929634866673	0.92891	0.7974774384322526	0.79700	1.11752430456	0.78209	0.732518315315	0.71874	T	0.725907	0.92290	D	-0.0768221	0.40229	T	0.110398	0.77599	D	0.11234474927187	0.13665	T	0.987451	0.95727	D	0.7889944	0.83210	0.7374544	0.84482	0.7889944	0.83212	0.7374544	0.84483	-11.871	0.84217	D	.	.	0.196	0.44961	B	.;.	.;.	5.074918	0.84663	28.4	0.99881331820849628	0.95733	0.90645	0.51994	D	AEFDGBI	0.626549	0.60933	D	0.321772958292372	0.57267	3.893477	0.368500451452657	0.59629	4.142476	0.999939798034919	0.46732	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.04	5.04	0.67293	1.977000	0.40211	2.184000	0.31153	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	17.386	0.87305	889	0.27310	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.005051	0.009511	0.002924	0.050000	0.000000	0.012195	0.000000	0.07143	1598.46	39	chr16	16114882	.	C	T	1598.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.895;DP=306;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=0.171;SOR=0.738	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1182	6	0	1	0
chr16	18324497	18324497	A	C	exonic	NPIPA7;NPIPA8	.	nonsynonymous SNV	NPIPA7:NM_001282507:exon3:c.T194G:p.V65G,NPIPA8:NM_001282511:exon4:c.T194G:p.V65G	.	766	727	19	10	0	39	0.0261219	0.0004	0.002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	.	.	0.00339457	0.0124	0	0	0	0	0.0168	0.1	0.0106	0.0006531	17	26028	rs562309429	0.0057	0.0057	0.0047	0.0065	0.0198	0.0055	0.0054	0.0188	0.0184	0.0009	0.0030	0.0112	0	0.0011	0.0184	0.0041	0.0057	0.0198	0.0041	0.0041	0.0038	0.0044	0.0213	0.0037	0.0035	0.0164	0.0147	0.0013	0	0.0021	0.0115	0	0.0006	0.0225	0.0042	0.0067	0.0213	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	0.54347	T	-4.81	0.80767	D	0.497	0.53006	-0.6936	0.60740	T	0.178	0.52350	T	3	0.014665723	0.00308	T	.	.	.	0.175	0.44197	.	.	0.302459207581	0.29844	0.019284102858280108	0.01882	.	.	.	.	.	0.091902	0.38892	T	-0.332444	0.05928	T	-0.26354	0.48469	T	0.0654364969637405	0.07995	T	.	.	.	0.5432569	0.69578	0.5640874	0.74772	0.5432569	0.69580	0.5640874	0.74773	-3.675	0.18950	T	.	.	0.375	0.59606	A	.;.	.;.	2.277649	0.29118	18.02	0.97365626384824433	0.33598	0.03196	0.08188	N	AEFI	0.057269	0.10653	N	0.124761660474647	0.47620	2.985151	-0.308007490123161	0.27839	1.547661	1.10566401661356E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	.	.	.	0.741000	0.25870	-0.174000	0.11198	0.232000	0.18153	0.998000	0.41325	0.000000	0.08366	0.052000	0.15357	.	.	.	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	636.23	8	chr16	18324497	.	A	C	636.23	.	AC=2;AF=0.167;AN=12;DP=89;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=28.97;QD=27.66;SOR=1.426	GT:AD:DP:GQ:PL	0/0:14,0:14:42:0,42,436	5	1	0	1
chr16	19440096	19440096	T	C	exonic	TMC5	.	nonsynonymous SNV	TMC5:NM_001105248:exon3:c.T58C:p.S20P,TMC5:NM_001105249:exon3:c.T58C:p.S20P,TMC5:NM_001261841:exon3:c.T58C:p.S20P,TMC5:NM_001308161:exon3:c.T58C:p.S20P	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0122730834136	0.0017	0.000199681	0.0014	0.0002	0.0008	0	0.0005	0.0021	0	0.0007	0.00152	235	154602	rs146537276	0.0025	0.0025	0.0026	0.0025	0.0030	0.0025	0.0024	0.0029	0.0029	0.0005	0.0010	0.0029	0	0.0004	0.0007	0.0030	0.0023	0.0006	0.0015	0.0015	0.0018	0.0012	0.0026	0.0013	0.0013	0.0023	0.0021	0.0007	0	0.0006	0.0037	0	9.43e-05	0	0.0026	0	0.0006	0.16	0.23721	T	0.177	0.30045	T	0.181	0.36091	B	0.074	0.29521	B	0.000000	0.00162	N	17.052200	1	0.08975	N	2.375	0.68372	M	-0.56	0.74265	T	-0.75	0.21215	N	0.233	0.27554	-0.9023	0.47749	T	0.246	0.61495	T	10	0.007520497	0.00171	T	0.012273	0.30692	T	0.154	0.40340	.	.	0.273503213844	0.26977	0.3173166654607831	0.31644	0.205466867482	0.22964	0.358751922846	0.19203	T	0.01264	0.11071	T	-0.418146	0.01758	T	-0.37108	0.36763	T	0.00972602867284003	0.00127	T	0.69603	0.30552	T	0.15243725	0.34603	0.14221045	0.33840	0.15243725	0.34603	0.14221045	0.33839	-1.451	0.01667	T	.	.	0.085	0.10400	B	.;.;.;.	.;.;.;.	0.790827	0.11611	8.201	0.97879979449795329	0.36594	0.02378	0.06759	N	AEFBI	0.071604	0.14260	N	-0.830842099380813	0.12527	0.611148	-0.897150805472195	0.12161	0.6239586	9.3378165228426E-5	0.04910	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.15	0.26	0.14844	0.341000	0.19652	-0.652000	0.08023	-0.111000	0.15049	0.001000	0.13787	0.000000	0.08366	0.058000	0.15825	0.0:0.2746:0.1688:0.5566	4.286	0.10301	754	0.51307	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	969.53	80	chr16	19440096	.	T	C	969.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.147;DP=273;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-0.419;SOR=0.63	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr16	19479501	19479501	A	T	exonic	TMC5	.	nonsynonymous SNV	TMC5:NM_024780:exon10:c.A1502T:p.N501I,TMC5:NM_001308161:exon13:c.A2084T:p.N695I,TMC5:NM_001105248:exon14:c.A2240T:p.N747I,TMC5:NM_001105249:exon14:c.A2240T:p.N747I,TMC5:NM_001261841:exon14:c.A2240T:p.N747I	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.0454276026995	.	.	0.0003	0	0	0	0.0045	0.0001	0.0022	0	0.0002781	43	154602	rs201645334	0.0002	0.0002	0.0002	0.0002	3.598e-05	0.0002	0.0002	2.711e-05	2.387e-05	0	2.236e-05	0	2.519e-05	0.0043	0	3.598e-05	0.0001	1.159e-05	0.0003	0.0003	0.0002	0.0004	0.0006	0.0002	0.0002	0.0002	8.384e-05	0	0	0	0	0.0006	0.0029	0	0.0002	0	0	0.07	0.78490	T	0.005	0.72224	D	0.654	0.40793	P	0.431	0.45421	B	0.000007	0.62929	D	0.109462	0.998888	0.22380	N	0.505	0.13445	N	-0.02	0.62918	T	-4.27	0.76254	D	0.413	0.46462	-1.0019	0.29372	T	0.119	0.41778	T	10	0.01839292	0.00400	T	0.045428	0.61974	D	0.178	0.44724	.	.	0.740924283683	0.73860	0.419552577437763	0.41871	0.310988398923	0.33403	0.385811209679	0.23077	T	0.06673	0.41383	T	-0.331318	0.06012	T	-0.381627	0.35533	T	0.158808069242115	0.17783	T	0.906109	0.66926	D	0.3388983	0.56192	0.29463214	0.55494	0.3388983	0.56192	0.29463214	0.55493	-8.214	0.62519	D	.	.	0.173	0.38889	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.382835	0.46799	22.4	0.98814498681986263	0.46672	0.57773	0.30465	D	AEFDGHCIJ	0.544930	0.55965	D	-0.237744318093152	0.31596	1.773226	-0.0703949181989375	0.36621	2.13349	0.999965858200935	0.48965	0.487112	0.14033	0	0.573888	0.26702	0	0.550215	0.18615	0	0.564101	0.26826	0	.	.	5.15	5.15	0.70287	3.313000	0.51645	9.237000	0.79396	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.540000	0.29938	0.7816:0.0:0.2184:0.0	5.938	0.18413	579	0.69780	TMC domain;.;TMC domain;TMC domain;.;.;TMC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1473.83	36	chr16	19479501	.	A	T	1473.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.423;DP=307;ExcessHet=0;FS=2.197;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-0.114;SOR=0.902	GT:AD:DP:GQ:PL	0/1:68,64:132:99:1484,0,1582	6	0	1	0
chr16	19581567	19581567	G	T	exonic	VPS35L	.	nonsynonymous SNV	VPS35L:NM_001300743:exon7:c.G553T:p.V185L,VPS35L:NM_001365293:exon7:c.G553T:p.V185L,VPS35L:NM_001365294:exon7:c.G553T:p.V185L,VPS35L:NM_020314:exon7:c.G553T:p.V185L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0615316583455	.	.	.	.	.	.	.	.	.	.	.	.	.	rs375711713	6.847e-07	6.84e-07	0	1.376e-06	1.162e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.046	0.50809	D	0.004	0.16609	B	0.011	0.15521	B	0.000291	0.46274	D	0.192511	0.890675	0.81001	D	.	.	.	-0.21	0.78537	T	-1.57	0.40660	N	0.336	0.47580	-0.6117	0.64333	T	0.279	0.65048	T	10	0.19055074	0.34702	T	0.061532	0.68362	D	0.179	0.44899	0.327	0.31034	0.599777738666	0.59658	0.2615024837575468	0.26063	0.238051287546	0.26353	.	.	.	0.033946	0.23124	T	-0.0296872	0.47463	T	-0.17979	0.56543	T	0.492713499039398	0.32363	T	0.964504	0.87317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.54499	B	.;.;.;.;.;.	.;.;.;.;.;.	3.185787	0.43259	21.7	0.99114555462310905	0.52828	0.94638	0.61822	D	AEFBI	0.507095	0.53754	D	-0.1922010323707	0.33459	1.898436	-0.06060783249033	0.37035	2.163065	0.956349992640752	0.28242	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	2.31	0.27816	4.677000	0.61324	4.463000	0.43466	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.555:0.0:0.445:0.0	5.296	0.15064	530	0.73653	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	31	chr16	19581567	.	G	T	33.22	.	AC=2;AF=0.143;AN=14;DP=179;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,940	6	1	0	0
chr16	19714239	19714239	G	A	exonic	KNOP1	.	nonsynonymous SNV	KNOP1:NM_001012991:exon2:c.C797T:p.A266V,KNOP1:NM_001348527:exon2:c.C977T:p.A326V,KNOP1:NM_001348530:exon2:c.C797T:p.A266V,KNOP1:NM_001348531:exon2:c.C797T:p.A266V,KNOP1:NM_001348534:exon2:c.C797T:p.A266V,KNOP1:NM_001348535:exon2:c.C797T:p.A266V,KNOP1:NM_001348536:exon2:c.C797T:p.A266V,KNOP1:NM_001348528:exon3:c.C797T:p.A266V,KNOP1:NM_001348529:exon3:c.C797T:p.A266V,KNOP1:NM_001348532:exon3:c.C797T:p.A266V,KNOP1:NM_001348533:exon3:c.C797T:p.A266V,KNOP1:NM_001348537:exon3:c.C797T:p.A266V	.	433	1080	9	0	0	9	0.00414938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0002	0.0071885	0.0071	0	0.0327	0.0394	0.0024	0.0010	0.0055	0.0030	0.0061448	950	154602	rs2074036	0.0026	0.0026	0.0027	0.0026	0.0419	0.0026	0.0025	0.0402	0.0395	0.0003	0.0263	0.0041	0.0419	0.0015	0.0005	0.0003	0.0030	0.0039	0.0030	0.0030	0.0025	0.0036	0.0375	0.0028	0.0027	0.0332	0.0315	0.0001	0	0.0108	0.0046	0.0375	0.0021	0	0.0005	0.0024	0.0035	0.377	0.11298	T	0.303	0.20164	T	0.0	0.02946	B	0.001	0.04355	B	0.106892	0.02600	N	1.984170	1	0.08975	N	-0.55	0.02420	N	1.91	0.23283	T	-1.39	0.34397	N	0.033	0.00882	-1.0467	0.15332	T	0.009	0.03183	T	9	0.002591312	0.00039	T	.	.	.	0.064	0.18567	.	.	0.0762999501168	0.06990	0.013604625282853606	0.01318	0.084664028612	0.09566	0.248540833592	0.03616	T	0.009919	0.08996	T	-0.626393	0.00101	T	-0.640411	0.09639	T	0.00216410544944276	0.00022	T	0.290771	0.05306	T	0.015425574	0.00139	0.024287125	0.00446	0.015425574	0.00138	0.024287125	0.00446	-3.206	0.12554	T	.	.	0.080	0.07889	B	.	.	-0.653834	0.01431	0.085	0.66021662738853648	0.07939	0.04592	0.10244	N	AEFBCI	0.041141	0.06216	N	-1.61169657539687	0.01207	0.05248635	-1.68216567514945	0.01218	0.05486738	0.999999530396617	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.84	-7.51	0.01203	-0.192000	0.09585	-0.338000	0.09838	-0.858000	0.02657	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5004:0.2429:0.1406:0.1161	2.455	0.04252	683	0.59664	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.005051	0.000000	0.002924	0.000000	0.000000	0.003049	0.011364	0.07143	304.83	30	chr16	19714239	.	G	A	304.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.056;DP=184;ExcessHet=0;FS=1.66;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=0.145;SOR=1.093	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,925	6	0	1	0
chr16	20373106	20373106	C	A	exonic	PDILT	.	nonsynonymous SNV	PDILT:NM_174924:exon6:c.G698T:p.R233L	.	430	1085	7	0	0	7	0.00321543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0142129705642	0.0022	0.00179712	0.0016	0.0007	0.0016	0	0	0.0022	0	0.0011	0.0016429	254	154602	rs141043720	0.0026	0.0026	0.0027	0.0025	0.0029	0.0025	0.0025	0.0028	0.0028	0.0006	0.0027	0.0041	0	0.0002	0.0021	0.0029	0.0036	0.0008	0.0022	0.0022	0.0021	0.0022	0.0045	0.0020	0.0019	0.0037	0.0033	0.0010	0	0.0045	0.0055	0	9.43e-05	0	0.0027	0.0043	0.0017	0.417	0.09927	T	0.658	0.06554	T	0.006	0.13644	B	0.008	0.13708	B	0.054324	0.22734	N	0.498124	0.73755	0.29767	N	1.98	0.53716	M	1.47	0.31987	T	-1.66	0.39692	N	0.424	0.46368	-1.0841	0.06572	T	0.040	0.17319	T	10	0.010000765	0.00224	T	0.014213	0.34172	T	0.047	0.12962	.	.	0.381239546501	0.37731	0.7327345035719722	0.73218	0.106597910397	0.12050	0.372932136059	0.21252	T	0.00379	0.03201	T	-0.499173	0.00578	T	-0.495042	0.22864	T	0.0161349629279246	0.00390	T	0.79822	0.44280	T	0.15680262	0.35366	0.10329144	0.24779	0.15680262	0.35366	0.10329144	0.24778	-2.004	0.03196	T	.	.	0.243	0.47784	B	.	.	2.881232	0.38127	20.7	0.72555988300699381	0.10014	0.56367	0.30099	D	AEFHI	0.115195	0.22659	N	-0.259018074927117	0.30745	1.717192	-0.140302812595262	0.33784	1.936184	0.00450493708491616	0.10591	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.82	3.8	0.42887	1.260000	0.32571	3.067000	0.36184	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.946000	0.48989	0.2293:0.7707:0.0:0.0	9.349	0.37291	802	0.44336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.010101	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	1812.44	34	chr16	20373106	.	C	A	1812.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.2;DP=353;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=0.222;SOR=0.67	GT:AD:DP:GQ:PL	0/1:98,75:173:99:1823,0,2217	6	0	1	0
chr16	20460184	20460184	T	C	exonic	ACSM2A	.	nonsynonymous SNV	ACSM2A:NM_001308172:exon2:c.T70C:p.Y24H,ACSM2A:NM_001308954:exon3:c.T70C:p.Y24H	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00113970870599	0.0008	0.00119808	0.0008	9.775e-05	0.0004	0	0.0003	0.0012	0.0011	0.0010	7.76e-05	12	154602	rs140129240	0.0010	0.0010	0.0010	0.0010	0.0012	0.0010	0.0009	0.0011	0.0011	0.0002	0.0004	0	0	0.0006	0	0.0012	0.0007	0.0010	0.0007	0.0007	0.0007	0.0007	0.0011	0.0006	0.0005	0.0009	0.0009	0.0002	0	0.0008	0	0	0.0002	0	0.0011	0.0005	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.770098	0.09554	N	0.872433	1	0.08975	N	-1.92	0.00231	N	0.79	0.49068	T	1.57	0.00677	N	0.157	0.16447	-1.0021	0.29313	T	0.027	0.11397	T	10	0.0076886415	0.00175	T	0.00114	0.01410	T	0.022	0.04323	.	.	0.17258766438	0.16869	0.5575803994993623	0.55685	0.366955075449	0.38266	0.28495568037	0.08193	T	0.007704	0.07089	T	-0.572767	0.00213	T	-0.641068	0.09590	T	0.00957859101537145	0.00124	T	0.367963	0.08605	T	0.02713948	0.01864	0.029394003	0.01272	0.02713948	0.01864	0.029394003	0.01271	-1.785	0.02465	T	.	.	0.059	0.04002	B	.;.;.;.;.;.	.;.;.;.;.;.	0.010012	0.04351	1.113	0.65815914652677776	0.07880	0.00019	0.00214	N	AEFI	0.063244	0.12210	N	-1.63402391053204	0.01104	0.04793333	-1.60707527099555	0.01613	0.07317113	1.08070360728196E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.28	-1.7	0.07721	0.997000	0.29333	-0.820000	0.07299	-0.880000	0.02471	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.1687:0.5424:0.0:0.2889	3.824	0.08360	783	0.47268	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000616	0.000000	0.000000	0.000000	0.000000	0.000000	0.004000	0.000000	0.07143	2100.53	40	chr16	20460184	.	T	C	2100.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.738;DP=343;ExcessHet=0;FS=2.281;MLEAC=1;MLEAF=0.071;MQ=46.53;MQRankSum=-1.871;QD=15.22;ReadPosRankSum=-1.968;SOR=0.517	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr16	20737101	20737101	G	C	exonic	THUMPD1	.	nonsynonymous SNV	THUMPD1:NM_001304550:exon4:c.C841G:p.Q281E,THUMPD1:NM_017736:exon4:c.C841G:p.Q281E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00285740318859	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs768847117	4.104e-06	4.104e-06	4.084e-06	4.125e-06	4.496e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	1.656e-05	0	6.574e-06	6.568e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.298418	0.14642	N	0.673180	1	0.08975	N	1.39	0.34934	L	1.05	0.39990	T	0.53	0.02808	N	0.022	0.00372	-0.9936	0.31670	T	0.073	0.29643	T	10	0.058152318	0.06792	T	0.002857	0.06015	T	0.084	0.24469	.	.	0.661647421419	0.65881	0.10707710537152144	0.10637	0.205172797942	0.22937	0.237878873944	0.02602	T	0.013199	0.11459	T	-0.299118	0.08743	T	-0.651953	0.08819	T	0.0494298610442217	0.05400	T	0.615438	0.23533	T	0.05462891	0.10506	0.052168693	0.08543	0.05462891	0.10506	0.052168693	0.08542	-1.865	0.02710	T	.	.	0.054	0.00341	B	.;.	.;.	2.026905	0.25760	16.88	0.60770788054278957	0.06544	0.62793	0.31889	D	AEFBCI	0.069099	0.13661	N	-0.429354950551627	0.24445	1.319979	-0.275728812295351	0.28901	1.614951	0.996839349727263	0.35047	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.92	3.88	0.43959	2.798000	0.47578	5.059000	0.47069	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.647000	0.32611	0.0:0.2065:0.5475:0.2461	9.716	0.39442	184	0.92813	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2613.83	33	chr16	20737101	.	G	C	2613.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.553;DP=365;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=1.81;SOR=0.711	GT:AD:DP:GQ:PL	0/1:91,100:191:99:2624,0,2311	6	0	1	0
chr16	20739050	20739050	G	A	exonic	THUMPD1	.	nonsynonymous SNV	THUMPD1:NM_001304550:exon2:c.C253T:p.P85S,THUMPD1:NM_017736:exon2:c.C253T:p.P85S	.	434	1086	2	0	0	2	0.000919963	.	.	.	2355166	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.0102659699179	0.0005	0.000199681	0.0004	0.0002	0.0005	0	0	0.0004	0.0011	0.0010	0.0004657	72	154602	rs142407123	0.0007	0.0007	0.0007	0.0007	0.0010	0.0006	0.0006	0.0008	0.0008	8.962e-05	0.0004	0	0	0.0002	0	0.0008	0.0004	0.0010	0.0004	0.0004	0.0005	0.0004	0.0007	0.0004	0.0003	0.0005	0.0005	0.0001	0	0.0007	0	0	0.0002	0	0.0007	0	0.0006	0.491	0.07969	T	0.968	0.02496	T	0.001	0.07471	B	0.001	0.04355	B	0.351808	0.13804	N	0.732597	0.999998	0.18612	N	0.64	0.16041	N	0.94	0.43672	T	0.07	0.06138	N	0.147	0.14905	-1.0087	0.27323	T	0.046	0.19800	T	10	0.012063533	0.00261	T	0.010266	0.26610	T	0.017	0.02790	.	.	0.577073266457	0.57376	0.13763478296698203	0.13687	0.181131972731	0.20371	0.245642244816	0.03323	T	0.003429	0.02839	T	-0.623834	0.00104	T	-0.725218	0.04548	T	0.00108875648342033	0.00011	T	0.477752	0.14377	T	0.027080746	0.01850	0.03621934	0.03024	0.027080746	0.01849	0.03621934	0.03024	-0.547	0.00613	T	.	.	0.068	0.02639	B	.;.	.;.	0.929472	0.13044	9.551	0.77797024698252282	0.12026	0.68048	0.33656	D	AEFDBCI	0.087390	0.17719	N	-0.830233508187111	0.12542	0.611991	-0.660797907178942	0.17945	0.9564286	0.999650073259783	0.41424	0.67177	0.52595	0	0.662677	0.63036	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.4	1.22	0.20300	0.921000	0.28338	2.119000	0.30708	-0.153000	0.12021	0.492000	0.26894	0.068000	0.22166	0.941000	0.48210	0.1774:0.1176:0.584:0.1209	3.793	0.08247	184	0.92813	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	1430.44	36	chr16	20739050	.	G	A	1430.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.171;DP=313;ExcessHet=0;FS=3.895;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-0.289;SOR=1.112	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr16	21019731	21019731	C	T	exonic	DNAH3	.	nonsynonymous SNV	DNAH3:NM_001347886:exon41:c.G5777A:p.R1926K,DNAH3:NM_017539:exon41:c.G5915A:p.R1972K	.	431	1085	6	0	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.0297847220452	0.0008	0.000399361	0.0010	0	0.0010	0	0	0.0014	0	0.0013	0.000925	143	154602	rs151258803	0.0008	0.0008	0.0007	0.0008	0.0146	0.0007	0.0007	0.0121	0.0111	0.0007	0.0015	0.0062	0	0	0.0146	0.0005	0.0017	0.0014	0.0007	0.0007	0.0007	0.0006	0.0010	0.0006	0.0005	0.0007	0.0005	7.22e-05	0	0.0010	0.0066	0	0	0.0068	0.0007	0.0038	0.0010	0.019	0.50132	D	.	.	.	1.0	0.90584	D	0.996	0.84481	D	0.000054	0.53742	N	0.120254	0.999979	0.81001	D	3.285	0.90273	M	1.71	0.26737	T	-2.79	0.59059	D	0.567	0.59053	-0.5564	0.66541	T	0.212	0.57254	T	10	0.019082427	0.00422	T	0.029785	0.52230	D	0.332	0.65424	.	.	0.317667799068	0.31381	0.7588336710495922	0.75831	0.328727882456	0.34987	0.60316747427	0.53351	T	0.317849	0.68927	T	-0.347619	0.04878	T	-0.302186	0.44493	T	0.108194679021835	0.13235	T	0.721828	0.33531	T	0.3814462	0.59421	0.29608408	0.55641	0.3814462	0.59421	0.29608408	0.55640	-10.048	0.74198	D	.	.	0.232	0.46551	B	.	.	3.059019	0.41073	21.3	0.99733962530148501	0.82975	0.95071	0.63332	D	AEFCI	0.852478	0.76939	D	0.772837335292986	0.84382	8.272189	0.703913898210729	0.82678	7.826359	0.99106269212136	0.32361	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.8	4.84	0.62125	5.915000	0.69704	3.266000	0.37125	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.748000	0.35716	0.0:0.9309:0.0:0.0691	14.791	0.69469	365	0.84644	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015106	0.015152	0.017663	0.020468	0.000000	0.034483	0.006098	0.007576	0.1429	33.22	34	chr16	21019731	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1200	6	1	0	0
chr16	21204152	21204152	G	A	exonic	ZP2	.	nonsynonymous SNV	ZP2:NM_001376231:exon9:c.C850T:p.L284F,ZP2:NM_001376232:exon9:c.C850T:p.L284F,ZP2:NM_001376233:exon9:c.C850T:p.L284F,ZP2:NM_003460:exon10:c.C850T:p.L284F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.05098263785	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs766463382	2.052e-06	2.052e-06	2.722e-06	1.375e-06	2.236e-05	5.5e-07	1.5e-07	.	.	0	2.236e-05	0	0	0	0	8.993e-07	1.656e-05	0	6.57e-06	6.567e-06	0	1.345e-05	6.547e-05	0	0	.	.	0	0	6.547e-05	0	0	0	0	0	0	0	.	.	.	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.001475	0.38917	N	0.104955	0.999993	0.08975	N	2.865	0.83145	M	0.56	0.54540	T	.	.	.	0.437	0.47580	-0.5811	0.65574	T	0.321	0.69030	T	10	0.30229563	0.47767	T	0.050983	0.64471	D	.	.	0.413	0.45052	0.730984303034	0.72859	0.6214025754533569	0.62073	0.395001678641	0.40653	0.524103164673	0.42204	T	0.428963	0.77792	T	-0.219538	0.18055	T	-0.377281	0.36041	T	0.938934087753296	0.60997	D	.	.	.	0.38590676	0.59740	0.34824362	0.60467	0.38590676	0.59740	0.34824362	0.60466	-6.147	0.47687	T	.	.	0.331	0.55271	B	.;.	.;.	2.500098	0.32271	18.99	0.99708044258602724	0.81143	0.05535	0.11428	N	AEFBI	0.071766	0.14300	N	-0.276533539361495	0.30058	1.672458	-0.531125136452016	0.21310	1.152189	7.54356003051915E-4	0.07758	0.486886	0.10167	0	0.586423	0.34054	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	6.08	-2.78	0.05512	0.369000	0.20149	0.717000	0.20982	-0.135000	0.12811	0.091000	0.22601	0.945000	0.28875	0.493000	0.28859	0.4834:0.0:0.5166:0.0	13.898	0.63291	658	0.62094	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1888.44	34	chr16	21204152	.	G	A	1888.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.463;DP=380;ExcessHet=0;FS=0.562;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-0.547;SOR=0.769	GT:AD:DP:GQ:PL	0/1:110,79:189:99:1899,0,2970	6	0	1	0
chr16	21402702	21402702	C	T	exonic	NPIPB3	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0246251715544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0008	0.0009	0.0011	0.0128	0.0008	0.0008	0.0101	0.0091	0	0	0.0005	0.0128	0.0021	0	0.0002	0	0.0006	0	0.0002	0	0	.	0	0	.	.	0	.	0	.	.	0	.	0	.	.	0.138	0.25873	T	0.149	0.32568	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.39	0.57419	T	-0.67	0.19297	N	0.058	0.02964	-1.0457	0.15621	T	0.087	0.33746	T	5	0.085467845	0.14432	T	0.024625	0.47617	T	0.044	0.11924	.	.	0.082315109003	0.07666	0.006208973850540704	0.00589	.	.	.	.	.	.	.	.	-0.234807	0.16018	T	-0.57506	0.14988	T	0.232985343204068	0.22092	T	0.518348	0.16810	T	.	.	.	.	.	.	.	.	-9.475	0.70703	D	.	.	.	.	.	.	.	1.309998	0.17132	12.98	0.97698267627362056	0.35418	0.00086	0.00577	N	AEFI	0.033535	0.03998	N	-0.453380572196268	0.23626	1.270027	-0.50584879692224	0.21994	1.192462	1.09648973830877E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	.	.	.	0.137000	0.15816	-0.809000	0.07342	0.150000	0.17692	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	.	.	.	878	0.29785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	199.2	13	chr16	21402702	.	C	T	199.2	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.256;DP=105;ExcessHet=0;FS=2.515;MLEAC=1;MLEAF=0.1;MQ=21.53;MQRankSum=-1.678;QD=13.28;ReadPosRankSum=0;SOR=1.802	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1059	4	0	1	2
chr16	21404236	21404236	C	-	splicing	NPIPB3	NM_130464:exon10:c.1691+1G>-;NM_130464:exon11:c.1692-1G>-	.	.	.	1479	15	0	28	0	56	0.651163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	0	.	.	0.0004528	70	154602	rs767458164	0.3333	0.0001	1.0000	0	0.5000	0.0592	0.0248	0.0888	0.0371	.	0.5000	.	.	.	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	426.24	4	chr16	21404235	.	GC	G	426.24	.	AC=8;AF=1;AN=8;DP=17;ExcessHet=0;FS=0;MLEAC=9;MLEAF=1;MQ=27.33;QD=27.5;SOR=4.977	GT:AD:DP:GQ:PL	./.:1,0:1:0:0,0,0	0	4	0	3
chr16	21818753	21818753	T	G	exonic	RRN3	.	unknown	UNKNOWN	.	440	1081	1	0	0	1	0.000462321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs558069817	9.863e-05	9.199e-05	5.498e-05	0.0001	0.0015	8.453e-05	7.948e-05	0.0013	0.0012	0	0	0	0	0	0	0	7.205e-05	0.0015	4.597e-05	4.593e-05	2.57e-05	6.715e-05	0.0015	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	159.49	21	chr16	21818753	.	T	G	159.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.478;DP=176;ExcessHet=0;FS=2.246;MLEAC=1;MLEAF=0.071;MQ=56.97;MQRankSum=0.38;QD=9.97;ReadPosRankSum=-0.156;SOR=0.199	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	6	0	1	0
chr16	21836033	21836033	C	T	exonic	NPIPB3;NPIPB4;NPIPB5	.	nonsynonymous SNV	NPIPB4:NM_001310148:exon8:c.G2354A:p.S785N,NPIPB4:NM_001384979:exon8:c.G2354A:p.S785N,NPIPB4:NM_001384980:exon8:c.G2354A:p.S785N,NPIPB5:NM_001135865:exon9:c.G2213A:p.S738N,NPIPB4:NM_001384981:exon9:c.G2345A:p.S782N,NPIPB4:NM_001384982:exon9:c.G2297A:p.S766N,NPIPB3:NM_130464:exon10:c.G2339A:p.S780N	.	773	748	1	0	0	1	0.000668003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0930073214177	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1328654978	0.0046	0.0006	0.0022	0.0058	0.0136	0.0041	0.0039	0.0121	0.0116	0	0	0	0	0	0	0	0.0018	0.0136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.661	0.06490	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.65	0.27650	T	-0.53	0.16393	N	0.074	0.04790	-0.6126	0.64296	T	0.169	0.50842	T	4	0.0096052885	0.00216	T	0.093007	0.75995	D	0.103	0.29403	.	.	0.173771789658	0.16945	5.7728176470188065E-5	0.00004	.	.	.	.	.	0.014454	0.12303	T	-0.610893	0.00125	T	-0.643601	0.09409	T	0.10771943849053	0.13186	T	0.468553	0.13811	T	0.20515269	0.42648	0.1604574	0.37372	0.20515269	0.42648	0.1604574	0.37371	-11.494	0.82298	D	.	.	0.824	0.78412	P	.	.	2.054378	0.26120	17.00	0.94345237223972978	0.24689	0.00092	0.00608	N	AEFBI	0.040272	0.05968	N	-0.0300768297955081	0.40498	2.405967	-0.203299388941242	0.31417	1.777826	1.09648973830877E-6	0.01202	0.617157	0.39670	1	0.786243	0.99712	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	0.147000	0.16021	-1.614000	0.05058	0.156000	0.17708	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	.	.	.	612	0.66786	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	258.27	8	chr16	21836033	.	C	T	258.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.577;DP=165;ExcessHet=0;FS=3.214;MLEAC=1;MLEAF=0.083;MQ=37.19;MQRankSum=0.728;QD=14.35;ReadPosRankSum=0.624;SOR=0.105	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1373	5	0	1	1
chr16	21836409	21836409	C	T	exonic	NPIPB3;NPIPB4;NPIPB5	.	nonsynonymous SNV	NPIPB4:NM_001310148:exon8:c.G1978A:p.V660I,NPIPB4:NM_001384979:exon8:c.G1978A:p.V660I,NPIPB4:NM_001384980:exon8:c.G1978A:p.V660I,NPIPB5:NM_001135865:exon9:c.G1837A:p.V613I,NPIPB4:NM_001384981:exon9:c.G1969A:p.V657I,NPIPB4:NM_001384982:exon9:c.G1921A:p.V641I,NPIPB3:NM_130464:exon10:c.G1963A:p.V655I	.	591	927	4	0	0	4	0.00215285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00959801976411	.	0.000399361	0.0019	0	0	0	0	0.0007	0	0.0043	7.68e-05	2	26028	rs534531061	0.0002	0.0001	9.236e-05	0.0002	0.0014	0.0001	0.0001	0.0010	0.0009	0.0001	0.0002	0	2.694e-05	0	0.0014	7.129e-05	0.0003	0.0012	0.0002	0.0002	8.643e-05	0.0002	0.0002	8.156e-05	6.274e-05	7.637e-05	5.255e-05	0.0001	0	0	0	0	0	0.0081	0.0002	0.0012	0	0.011	0.55530	D	0.485	0.11725	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.1	0.19990	T	-0.17	0.09627	N	0.044	0.01658	-1.0111	0.26573	T	0.023	0.09787	T	5	0.008140653	0.00185	T	0.009598	0.25107	T	0.014	0.01968	0.325	0.30711	0.0297737177859	0.01360	8.999646442461189E-4	0.00082	.	.	.	.	.	0.004251	0.03660	T	-0.577909	0.00199	T	-0.722965	0.04654	T	0.0147949886349223	0.00311	T	0.391661	0.09743	T	0.10991212	0.25983	0.077704	0.17334	0.10991212	0.25983	0.077704	0.17333	-7.245	0.55804	T	.	.	0.183	0.39782	B	.	.	0.801994	0.11727	8.304	0.91483194608739338	0.20755	0.00064	0.00463	N	AEFBI	0.025339	0.01718	N	-1.5534487308449	0.01515	0.06614223	-1.6596236208612	0.01327	0.05987788	7.88067496954742E-5	0.04552	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	-2.064000	0.01475	-0.533000	0.08625	-2.162000	0.00369	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	612	0.66786	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	913.44	34	chr16	21836409	.	C	T	913.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.19;DP=276;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=48.83;MQRankSum=-0.84;QD=9.82;ReadPosRankSum=0.213;SOR=0.724	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1298	6	0	1	0
chr16	22148185	22148185	G	T	exonic	VWA3A	.	nonsynonymous SNV	VWA3A:NM_173615:exon28:c.G2863T:p.V955F	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	.	.	0.00419329	0.0039	0	0.0003	0	0	3.207e-05	0	0.0224	0.0017788	275	154602	rs200655453	0.0009	0.0009	0.0005	0.0014	0.0147	0.0009	0.0008	0.0140	0.0137	0	0	0	5.083e-05	0	0.0009	8.129e-06	0.0010	0.0147	0.0006	0.0006	0.0003	0.0009	0.0183	0.0005	0.0004	0.0152	0.0140	0	0	0	0	0	0	0	0	0.0005	0.0183	0.004	0.68238	D	0.004	0.74150	D	0.884	0.62325	P	0.465	0.55899	P	0.001054	0.40475	N	0.208574	0.993995	0.23608	N	1.685	0.43254	L	-1.93	0.84842	D	-3.04	0.65972	D	0.577	0.60241	-0.3168	0.74511	T	0.533	0.82714	D	10	0.0063054264	0.00142	T	.	.	.	0.439	0.74306	0.395	0.42099	0.375861065471	0.37200	0.4422970933780521	0.44146	0.198075045376	0.22186	0.29337143898	0.09416	T	0.17024	0.51791	T	-0.273374	0.11383	T	-0.152485	0.59023	T	0.116390489335226	0.14073	T	0.846115	0.53896	T	0.17384705	0.38155	0.14233176	0.33864	0.17384705	0.38155	0.14233176	0.33863	-9.226	0.69959	D	.	.	0.277	0.51050	B	.;.	.;.	0.913656	0.12881	9.393	0.9938488627154618	0.62068	0.57027	0.30269	D	AEFDBI	0.185358	0.31269	N	-0.124426076258706	0.36330	2.098576	-0.162504704086202	0.32930	1.878428	0.00619585905205814	0.11153	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	4.95	3.76	0.42368	1.999000	0.40425	-0.057000	0.12472	-0.244000	0.07312	0.982000	0.35529	0.000000	0.08366	0.137000	0.19835	0.8835:0.0:0.1165:0.0	7.873	0.28741	458	0.78890	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.011364	0.07143	737.53	33	chr16	22148185	.	G	T	737.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.33;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.578;SOR=0.646	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1215	6	0	1	0
chr16	22534374	22534374	C	G	exonic	NPIPB5	.	stopgain	NPIPB5:NM_001135865:exon7:c.C1391G:p.S464X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.933e-05	0	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs747677843	0.0001	9.691e-05	0.0001	0.0001	0.0002	9.209e-05	8.388e-05	0.0001	0.0001	6.257e-05	0.0001	5.211e-05	3.211e-05	2.907e-05	0	0.0002	0.0002	0	0.0001	4.206e-05	0	0.0002	.	0	0	.	.	0	0	0	0	0	0.0010	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.058	0.21710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309886	0.83738	D	0.207354	0.83527	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Tolerant;Tolerant;.;.	.;.;High;High;.;.	4.527157	0.71041	25.6	0.84623891498752202	0.15400	0.11643	0.16768	N	AEFI	0.069147	0.13673	N	0.0751502343111383	0.45305	2.789298	-0.3655873115617	0.26031	1.435271	3.32599492157723E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	0.908000	0.28167	-0.468000	0.08996	0.120000	0.17638	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	934	0.15400	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	44.53	27	chr16	22534374	.	C	G	44.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.505;DP=199;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=38.54;MQRankSum=-0.195;QD=1.04;ReadPosRankSum=-0.739;SOR=0.023	GT:AD:DP:GQ:PL	0/1:38,5:43:55:55,0,1339	6	0	1	0
chr16	22534614	22534614	C	G	exonic	NPIPB5	.	stopgain	NPIPB5:NM_001135865:exon7:c.C1631G:p.S544X	.	579	941	1	0	1	2	0.000531067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	.	.	0.0003	0.0001	0.0003	0.0001	0.0003	0.0003	0	0.0002	3.84e-05	1	26028	rs747407838	2.063e-05	0.0001	1.642e-05	2.487e-05	5.993e-05	1.463e-05	1.27e-05	1.217e-05	1.033e-05	5.993e-05	2.241e-05	3.829e-05	0	7.741e-05	0	1.894e-05	1.666e-05	0	0.0010	0.0025	0.0010	0.0010	0.0027	0.0009	0.0008	0.0015	0.0012	0.0006	0.0025	0.0011	0.0003	0.0027	0.0018	0.0146	0.0010	0.0005	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.045	0.01911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090751	0.63274	D	-0.107419	0.62816	T	0.579547584056854	0.35601	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Tolerant;Tolerant;.	.;.;High;High;.	4.325984	0.66244	24.9	0.79309262267361202	0.12683	0.00378	0.01916	N	AEFI	0.025986	0.01873	N	-0.100938361158426	0.37352	2.171873	-0.582274282234248	0.19955	1.072993	1.64607651243059E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	.	.	.	0.113000	0.15333	0.367000	0.17636	0.120000	0.17638	0.012000	0.18695	0.012000	0.20211	0.012000	0.09680	.	.	.	934	0.15400	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	335.44	81	chr16	22534614	.	C	G	335.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.344;DP=788;ExcessHet=0;FS=0.67;MLEAC=1;MLEAF=0.071;MQ=54.32;MQRankSum=-1.92;QD=1.42;ReadPosRankSum=-2.321;SOR=0.79	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:132,0:132:99:.:.:0,120,1800:.	6	0	1	0
chr16	23529545	23529545	C	T	exonic	EARS2	.	nonsynonymous SNV	EARS2:NM_001083614:exon7:c.G1309A:p.A437T,EARS2:NM_001308211:exon7:c.G1309A:p.A437T	Combined oxidative phosphorylation deficiency 12, Autosomal recessive	1	1517	4	0	0	4	0.00131666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0189521567513	.	.	1.676e-05	0	0	0	0	1.512e-05	0	6.121e-05	1.29e-05	2	154602	rs781117573	6.157e-06	6.156e-06	5.445e-06	6.876e-06	0.0005	2.9e-06	2.1e-06	0.0001	7.541e-05	2.987e-05	0	0	0	0	0.0005	1.799e-06	3.311e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.576	0.06381	T	0.524	0.10317	T	0.004	0.12183	B	0.002	0.06944	B	0.105534	0.19654	N	0.583047	0.999999	0.08975	N	0.44	0.12706	N	0.87	0.46412	T	0.33	0.03889	N	0.115	0.10340	-1.0379	0.17954	T	0.048	0.20315	T	10	0.056969404	0.06469	T	0.018952	0.41175	T	0.034	0.08419	0.291	0.25241	0.426436156839	0.42259	0.145181103287358	0.14441	0.161394448648	0.18220	0.256297856569	0.04459	T	0.07303	0.34599	T	-0.409164	0.02013	T	-0.728658	0.04388	T	0.022335096400016	0.00946	T	0.659534	0.26859	T	0.01601902	0.00171	0.032114975	0.01899	0.01601902	0.00171	0.032114975	0.01898	-4.304	0.28232	T	0.1330994074479847	0.14253	0.074	0.05231	B	.;.;.;.	.;.;.;.	0.301241	0.06771	3.286	0.66831127544345281	0.08174	0.04582	0.10231	N	AEFDBI	0.040728	0.06096	N	-1.00411429270167	0.08518	0.3996847	-0.972329761320941	0.10409	0.5240921	0.997791014420968	0.36039	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.61	0.99	0.18926	0.015000	0.13250	-2.395000	0.03808	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.055000	0.15596	0.1846:0.3396:0.0:0.4758	3.426	0.06982	309	0.87553	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1079.63	40	chr16	23529545	.	C	T	1079.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.563;DP=294;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=0.677;SOR=0.714	GT:AD:DP:GQ:PL	0/0:59,0:59:99:0,120,1800	6	0	1	0
chr16	23535287	23535287	T	G	exonic	EARS2	.	nonsynonymous SNV	EARS2:NM_001083614:exon4:c.A559C:p.I187L,EARS2:NM_001308211:exon4:c.A559C:p.I187L	Combined oxidative phosphorylation deficiency 12, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0162347117306	.	.	1.668e-05	0	0	0	0	3.026e-05	0	0	1.29e-05	2	154602	rs755098700	2.062e-06	2.052e-06	1.369e-06	2.763e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.015	0.63109	D	0.87	0.47827	P	0.718	0.54779	P	0.000027	0.55875	D	0.160659	0.848556	0.35183	D	1.395	0.35261	L	2.09	0.20122	T	-2.0	0.46146	N	0.378	0.42541	-1.0152	0.25272	T	0.068	0.27980	T	10	0.52011395	0.62593	D	0.016235	0.37399	T	0.086	0.25016	0.788	0.91068	0.321951552304	0.31805	0.6811492826131078	0.68053	0.386617777565	0.39955	0.375176310539	0.21571	T	0.557158	0.85111	D	-0.181188	0.23558	T	-0.482554	0.24175	T	0.386896133422852	0.28446	T	0.785921	0.42389	T	0.3378219	0.56105	0.2541111	0.51070	0.3378219	0.56105	0.2541111	0.51069	-6.119	0.47728	T	0.28038155981059715	0.37559	0.187	0.41449	B	.;.;.;.	.;.;.;.	1.990617	0.25293	16.71	0.98279256612110444	0.39833	0.34713	0.25132	N	AEFDBI	0.216113	0.34139	N	-0.335177031670045	0.27821	1.529474	-0.445407466664443	0.23680	1.292603	0.366600730887371	0.19829	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	5.56	0.885	0.18323	0.068000	0.14398	0.125000	0.14969	0.660000	0.55035	0.009000	0.18154	0.015000	0.20450	0.062000	0.16114	0.0:0.3608:0.0:0.6392	8.536	0.32527	309	0.87553	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain|Glutamyl-tRNA synthetase;Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain|Glutamyl-tRNA synthetase;Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain|Glutamyl-tRNA synthetase;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2444.44	37	chr16	23535287	.	T	G	2444.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.307;DP=389;ExcessHet=0;FS=1.208;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=2.1;SOR=0.567	GT:AD:DP:GQ:PL	0/1:77,92:169:99:2455,0,2074	6	0	1	0
chr16	23700602	23700602	G	A	exonic	ERN2	.	nonsynonymous SNV	ERN2:NM_001308220:exon12:c.C1306T:p.R436W,ERN2:NM_033266:exon13:c.C1462T:p.R488W	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.0168715715809	.	.	0.0002	0	0.0003	0	0	6e-05	0	0.0011	0.0001876	29	154602	rs750839123	9.167e-05	9.166e-05	6.943e-05	0.0001	0.0010	7.891e-05	7.365e-05	0.0005	0.0005	2.987e-05	0.0004	0	5.038e-05	1.873e-05	0.0010	4.227e-05	4.968e-05	0.0007	0.0001	0.0001	8.992e-05	0.0001	0.0006	7.571e-05	6.277e-05	0.0003	0.0002	0	0	0.0006	0	0	0	0	8.819e-05	0.0005	0.0004	0.018	0.50676	D	0.059	0.47581	T	0.261	0.31520	B	0.075	0.28327	B	0.035394	0.01801	N	2.303880	1	0.08975	N	0	0.06538	N	0.16	0.60610	T	-1.51	0.36787	N	0.176	0.18920	-0.9785	0.35345	T	0.064	0.26667	T	10	0.032564968	0.01410	T	0.016872	0.38326	T	0.099	0.28413	0.32	0.29902	0.269558022972	0.26553	0.39393926582704303	0.39308	0.196112893007	0.21964	0.238646313548	0.02670	T	0.661827	0.89861	D	-0.442206	0.01255	T	-0.489758	0.23415	T	0.0335462198541496	0.02561	T	0.679032	0.28770	T	0.0630264	0.13228	0.02461654	0.00485	0.0630264	0.13227	0.02461654	0.00485	-6.197	0.47898	T	.	.	0.079	0.07365	B	.;.	.;.	0.787336	0.11578	8.169	0.81891859223442698	0.13912	0.03576	0.08790	N	AEFDBCI	0.068788	0.13585	N	-1.27657543326914	0.03959	0.1778257	-1.39515265959096	0.03303	0.1538197	0.999997300666498	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.459711	0.06710	0	0.530356	0.10902	0	.	.	4.1	-4.79	0.02966	-0.172000	0.09858	-0.022000	0.12912	-0.148000	0.12190	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3873:0.3103:0.3023:0.0	5.450	0.15853	368	0.84463	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.050000	0.000000	0.003049	0.003788	0.1429	1458.63	24	chr16	23700602	.	G	A	1458.63	.	AC=2;AF=0.143;AN=14;DP=214;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=28.05;SOR=1.036	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1048	6	1	0	0
chr16	24823726	24823726	C	A	exonic	TNRC6A	.	nonsynonymous SNV	TNRC6A:NM_001330520:exon24:c.C5661A:p.D1887E,TNRC6A:NM_001351850:exon24:c.C5688A:p.D1896E,TNRC6A:NM_014494:exon25:c.C5808A:p.D1936E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00248487813775	.	.	8.914e-06	0	0	0	0	0	0	9.479e-05	1.29e-05	2	154602	rs774099353	1.006e-05	1.231e-05	8.502e-06	1.166e-05	0.0001	5.84e-06	4.57e-06	7.183e-05	5.466e-05	0	0	0	0	0	0	2.78e-06	1.745e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.24857	T	0.456	0.12740	T	0.006	0.18474	B	0.007	0.13708	B	0.000007	0.62929	D	0.108201	0.948924	0.37630	D	0.51	0.13489	N	2.51	0.37052	T	-2.62	0.57110	D	0.141	0.15328	-0.9757	0.35970	T	0.110	0.39723	T	10	0.14610597	0.27705	T	0.002485	0.04925	T	0.063	0.18251	0.21	0.12781	0.279809986126	0.27602	0.14540309236290652	0.14463	0.0175472640881	0.01711	0.7486358881	0.74246	T	0.202377	0.56053	T	-0.438392	0.01322	T	-0.582783	0.14298	T	0.107756650030719	0.13189	T	0.910909	0.69895	D	0.18236351	0.39452	0.16300103	0.37834	0.18236351	0.39452	0.16300103	0.37834	-5.242	0.39366	T	.	.	0.110	0.41433	B	.;.;.	.;.;.	2.581446	0.33471	19.35	0.97352112304537142	0.33529	0.78565	0.38780	D	AEFDBCI	0.202281	0.32888	N	0.228518444618449	0.52584	3.431762	0.36699708726654	0.59539	4.132509	0.999922934641249	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.64	5.64	0.86480	3.471000	0.52871	4.817000	0.45088	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1435:0.718:0.1384:0.0	11.074	0.47240	353	0.85335	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	617.49	35	chr16	24823726	.	C	A	617.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.582;DP=240;ExcessHet=0;FS=2.169;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=1.18;SOR=0.446	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1259	6	0	1	0
chr16	24823787	24823787	G	C	exonic	TNRC6A	.	nonsynonymous SNV	TNRC6A:NM_001330520:exon24:c.G5722C:p.G1908R,TNRC6A:NM_001351850:exon24:c.G5749C:p.G1917R,TNRC6A:NM_014494:exon25:c.G5869C:p.G1957R	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.107122584193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.511e-06	1.368e-06	2.949e-06	0	2.863e-05	2.5e-07	9e-08	.	.	0	0	0	2.863e-05	0	0	9.57e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.455	0.71248	M	0.3	0.74265	T	-3.34	0.66325	D	0.642	0.67477	-0.4352	0.70890	T	0.370	0.72940	T	10	0.5910926	0.66384	D	0.107123	0.78306	D	0.377	0.69527	0.263	0.20788	0.654932626064	0.65205	0.4236224276499457	0.42279	0.140476801688	0.15843	0.780578076839	0.79014	T	0.350096	0.71786	T	0.288398	0.82024	D	0.176488	0.81793	D	0.98703408241272	0.77612	D	0.990001	0.96904	D	0.5730659	0.71228	0.65040064	0.79546	0.5730659	0.71229	0.65040064	0.79547	-4.753	0.34777	T	.	.	0.522	0.77936	A	.;.;.	.;.;.	5.016323	0.83334	28.0	0.99872827416981436	0.94989	0.97492	0.75099	D	AEFDBCI	0.919275	0.88957	D	0.567754736763813	0.71168	5.610255	0.646024794079921	0.78317	6.851599	0.999999999995707	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	8.978000	0.93023	9.912000	0.82435	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	17.890	0.88787	353	0.85335	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	270.53	33	chr16	24823787	.	G	C	270.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.9;DP=209;ExcessHet=0;FS=8.994;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.33;ReadPosRankSum=0.2;SOR=2.476	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1259	6	0	1	0
chr16	25224531	25224531	C	A	exonic	AQP8	.	nonsynonymous SNV	AQP8:NM_001169:exon4:c.C557A:p.A186D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.651	0.0613686170123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.007	0.70582	D	0.986	0.61523	D	0.796	0.58006	P	0.000000	0.84330	D	0.048336	1	0.81001	D	3.33	0.90841	M	-2.29	0.87591	D	-4.25	0.76094	D	0.915	0.91736	0.913	0.95859	D	0.829	0.94274	D	10	0.97454	0.97169	D	0.061369	0.68310	D	0.651	0.86836	0.812	0.92788	0.956278127015	0.95581	0.9779661933773277	0.97787	1.01416887604	0.74877	0.486844837666	0.37001	T	0.860972	0.96915	D	0.365763	0.87685	D	0.287617	0.87527	D	0.986351847648621	0.77094	D	0.859314	0.55085	D	0.5641509	0.70739	0.533787	0.73060	0.5641509	0.70740	0.533787	0.73061	-13.174	0.90066	D	.	.	0.894	0.82349	P	.;.	.;.	3.804584	0.54844	23.5	0.9955665579698858	0.71521	0.95052	0.63263	D	AEFDBI	0.733875	0.68018	D	0.622186993010356	0.74578	6.156818	0.493605407572531	0.67565	5.101112	0.9995063410721	0.40062	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	5.49	0.81022	3.730000	0.54731	2.111000	0.30660	0.599000	0.40250	0.998000	0.41325	0.971000	0.29754	0.010000	0.09038	0.0:1.0:0.0:0.0	16.865	0.85893	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr16	25224531	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1142	6	1	0	0
chr16	27507007	27507007	C	A	exonic	GTF3C1	.	nonsynonymous SNV	GTF3C1:NM_001286242:exon9:c.G1392T:p.E464D,GTF3C1:NM_001520:exon9:c.G1392T:p.E464D	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00633259676272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.12632	T	0.498	0.11263	T	0.032	0.20242	B	0.014	0.16862	B	0.003203	0.35270	N	0.246313	0.95792	0.26243	N	1.985	0.53793	M	1.85	0.24472	T	-0.43	0.14390	N	0.082	0.06854	-1.0402	0.17253	T	0.036	0.15683	T	10	0.034306943	0.01634	T	0.006333	0.16639	T	0.092	0.26621	0.07	0.00395	0.2338531098	0.23012	0.6600073570374517	0.65937	0.727662557189	0.62576	0.429952561855	0.29202	T	0.202605	0.56083	T	-0.289136	0.09724	T	-0.653101	0.08738	T	0.127006486058235	0.15102	T	0.637336	0.25103	T	0.028318036	0.02152	0.026200876	0.00697	0.028318036	0.02151	0.026200876	0.00697	-3.678	0.18994	T	0.09420489685848638	0.06279	0.075	0.05579	B	.;.	.;.	1.574050	0.20152	14.61	0.99071135769782781	0.51715	0.72712	0.35581	D	AEFDGBI	0.067989	0.13391	N	-0.510086091813085	0.21752	1.156735	-0.434592236357625	0.23988	1.311181	0.688508868910801	0.22561	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	4.92	-0.0882	0.13009	0.115000	0.15373	0.244000	0.16344	0.599000	0.40250	0.988000	0.36536	0.180000	0.23413	0.927000	0.46353	0.1275:0.2224:0.234:0.4161	1.408	0.02147	558	0.71484	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	713.44	83	chr16	27507007	.	C	A	713.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.363;DP=266;ExcessHet=0;FS=0.845;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=-0.291;SOR=0.569	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1179	6	0	1	0
chr16	29381691	29381691	G	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.C3241G:p.R1081G	.	553	960	1	5	3	14	0.00569653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00416674162864	.	.	.	.	.	.	.	.	.	.	.	.	.	rs528606058	0.0001	6.51e-05	0.0001	9.738e-05	0.0013	8.036e-05	7.256e-05	0.0003	0.0002	0	7.069e-05	0	0	0	0.0013	0.0001	0.0002	9.88e-05	5.471e-05	4.739e-05	2.05e-05	9.389e-05	6.314e-05	2.099e-05	1.361e-05	1.675e-05	8.64e-06	0	0	0	0	0	0	0	6.314e-05	0.0018	0	0.102	0.30235	T	0.092	0.39954	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.24	0.30952	L	0.24	0.59583	T	-0.96	0.25551	N	0.168	0.17828	-1.0094	0.27105	T	0.089	0.34160	T	5	0.09611273	0.17216	T	0.004167	0.10026	T	0.080	0.23350	0.251	0.18912	0.433823933641	0.42998	0.0020538258508922516	0.00190	.	.	.	.	.	0.012001	0.10618	T	-0.343938	0.05120	T	-0.532826	0.19006	T	0.0840512334389132	0.10497	T	0.473853	0.14122	T	0.09276863	0.21772	0.1569316	0.36719	0.09276863	0.21772	0.1569316	0.36718	-6.945	0.53632	T	.	.	0.358	0.57091	A	.	.	1.864911	0.23687	16.11	0.91891882053020202	0.21210	0.00341	0.01769	N	AEFDI	0.048526	0.08288	N	-0.945013095367644	0.09805	0.4656869	-1.1341917360785	0.07055	0.3417709	7.73663240632492E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	0.089000	0.14843	0.481000	0.18806	0.093000	0.17603	0.024000	0.20007	0.001000	0.17328	0.025000	0.12405	.	.	.	779	0.47767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	635.63	30	chr16	29381691	.	G	C	635.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.125;DP=190;ExcessHet=0;FS=13.257;MLEAC=1;MLEAF=0.071;MQ=34.51;MQRankSum=0.487;QD=21.19;ReadPosRankSum=-1.733;SOR=1.758	GT:AD:DP:GQ:PL	0/0:15,0:15:45:0,45,522	6	0	1	0
chr16	29383301	29383301	T	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.A1631G:p.H544R	.	539	915	66	2	0	70	0.0368421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.102607754237	.	.	0.0034	0.0006	0.0027	0.0010	0.0051	0.0041	0.0070	0.0029	0.0001153	3	26028	rs376109229	0.0004	0.0045	0.0004	0.0004	0.0008	0.0004	0.0004	0.0004	0.0004	0.0002	0.0006	0.0016	0.0002	0.0011	0.0008	0.0003	0.0005	0.0006	0.0008	0.0028	0.0007	0.0008	0.0010	0.0006	0.0006	0.0008	0.0007	0.0004	0	0.0010	0.0004	0	0.0010	0.0052	0.0010	0.0006	0.0003	0.714	0.03996	T	0.893	0.03108	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.49	0.02651	N	2.37	0.15964	T	0.3	0.04091	N	0.065	0.03726	-0.9529	0.40468	T	0.015	0.06282	T	4	0.010405421	0.00232	T	0.102608	0.77617	D	0.123	0.34020	0.182	0.09004	0.0666544352282	0.05500	0.017460914292579344	0.01701	.	.	.	.	.	0.002187	0.01585	T	-0.441885	0.01260	T	-0.872514	0.00719	T	0.00853633190419786	0.00104	T	0.472453	0.14032	T	0.05944767	0.12081	0.08600925	0.19898	0.05944767	0.12081	0.08600925	0.19897	0.7	0.00176	T	.	.	0.119	0.24498	B	.	.	-0.050767	0.03944	0.880	0.27293411967531173	0.01348	0.00096	0.00628	N	AEFI	0.029149	0.02698	N	-0.519074859421896	0.21463	1.139253	-0.565229626340505	0.20402	1.099045	1.09648973830877E-6	0.01202	0.651	0.46895	0	0.708844	0.79440	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	.	.	.	-1.331000	0.02779	-1.556000	0.05178	-0.897000	0.02353	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	327.53	49	chr16	29383301	.	T	C	327.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.385;DP=384;ExcessHet=0;FS=13.071;MLEAC=1;MLEAF=0.071;MQ=50.88;MQRankSum=-1.425;QD=2.92;ReadPosRankSum=-3.942;SOR=2.411	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:80,0:80:99:.:.:0,108,1620:.	6	0	1	0
chr16	29383427	29383427	T	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.A1505G:p.H502R	.	674	809	29	8	2	47	0.0270595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	.	.	.	0.0826	0.5	0	.	0	0.0484	0	0.1630	7.68e-05	2	26028	rs77403205	0.0033	0.0031	0.0028	0.0037	0.0300	0.0031	0.0030	0.0265	0.0251	0.0033	0.0087	0.0022	0.0300	0.0016	0.0018	0.0014	0.0027	0.0086	0.0009	0.0005	0.0013	0.0006	0.0012	0.0003	0.0001	0.0002	8.718e-05	0	0	0	0.0111	0	0	0	0.0012	0	0	0.862	0.02658	T	0.416	0.14284	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.695	0.01866	N	2.39	0.15724	T	0.98	0.01447	N	0.022	0.00372	-0.9531	0.40433	T	0.015	0.06282	T	4	0.0016781092	0.00021	T	.	.	.	0.101	0.28911	0.155	0.05858	.	.	0.018486071411131396	0.01802	.	.	.	.	.	0.002524	0.01914	T	-0.454797	0.01058	T	-0.891061	0.00568	T	0.0150007129087241	0.00322	T	0.428457	0.11587	T	0.051112827	0.09338	0.10343577	0.24818	0.051112827	0.09337	0.10343577	0.24817	0.315	0.00255	T	.	.	0.091	0.13174	B	.	.	-0.130205	0.03466	0.643	0.31851799518974977	0.01816	0.00096	0.00628	N	AEFDI	0.031964	0.03522	N	-0.523483715401697	0.21323	1.130716	-0.568996682795784	0.20303	1.093282	1.09648973830877E-6	0.01202	0.553676	0.25195	0	0.601575	0.49859	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	.	.	.	-0.909000	0.04167	-2.619000	0.03542	-2.558000	0.00246	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	439.5	31	chr16	29383427	.	T	C	439.5	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.523;DP=461;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.125;MQ=50.75;MQRankSum=-0.846;QD=23.13;ReadPosRankSum=-2.35;SOR=0.941	GT:AD:DP:GQ:PL	0/0:47,0:47:12:0,12,1352	3	0	1	3
chr16	29485391	29485391	G	A	exonic	NPIPB12	.	nonsynonymous SNV	NPIPB12:NM_001355401:exon8:c.C1085T:p.A362V	.	769	733	17	0	3	20	0.0114633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00280400634171	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1449779001	0.0001	0.0003	0.0001	0.0001	0.0019	8.577e-05	7.628e-05	0.0006	0.0005	0.0011	0	0	0	0	0.0019	3.965e-05	0.0002	0.0004	0.0004	0.0004	0.0003	0.0005	0.0019	0.0002	0.0002	0.0008	0.0007	0.0013	0	0	0	0	0	0	4.445e-05	0	0.0019	0.263	0.16412	T	0.503	0.11078	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	2.21	0.18414	T	-0.49	0.15578	N	0.063	0.03502	-0.9483	0.41263	T	0.014	0.05417	T	4	0.008832246	0.00200	T	0.002804	0.05840	T	0.022	0.04323	0.374	0.38667	0.0482279557977	0.04254	.	.	.	.	.	.	.	.	.	.	-0.308535	0.07878	T	-0.680966	0.06924	T	0.037968423217535	0.03327	T	0.652235	0.26282	T	.	.	.	.	.	.	.	.	-8.522	0.64575	D	.	.	0.269	0.50297	B	.;.	.;.	1.624962	0.20752	14.89	0.99243355790880283	0.56630	0.00387	0.01950	N	AEFI	0.028206	0.02443	N	-0.982321056460651	0.08981	0.4232228	-1.20401062875488	0.05845	0.2796658	1.09537333666636E-6	0.01202	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	.	.	.	0.064000	0.14310	-8.108000	0.01027	0.061000	0.17545	0.006000	0.17386	0.000000	0.08366	0.040000	0.14268	.	.	.	749	0.51929	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	356.18	79	chr16	29485391	.	G	A	356.18	.	AC=1;AF=0.1;AN=10;BaseQRankSum=4.78;DP=548;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=33.08;MQRankSum=0.244;QD=3.46;ReadPosRankSum=1.44;SOR=0.436	GT:AD:DP:GQ:PL	0/0:110,0:110:99:0,120,1800	4	0	1	2
chr16	29485712	29485712	G	C	exonic	NPIPB12	.	nonsynonymous SNV	NPIPB12:NM_001355401:exon8:c.C764G:p.S255C	.	617	900	5	0	0	5	0.00277008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00244857138788	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338707283	0.0016	0.0027	0.0015	0.0016	0.0029	0.0015	0.0014	0.0025	0.0023	0.0007	0.0002	0.0052	0.0029	0.0015	0.0010	0.0012	0.0018	0.0028	0.0022	0.0024	0.0025	0.0018	0.0024	0.0019	0.0018	0.0020	0.0019	0.0012	0	0.0013	0.0104	0.0010	0.0032	0	0.0024	0.0016	0.0019	0.061	0.37118	T	0.053	0.47336	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	0.45	0.56446	T	-2.22	0.49846	N	0.089	0.06720	-0.9485	0.41228	T	0.135	0.45049	T	4	0.015255958	0.00320	T	0.002449	0.04840	T	0.050	0.13987	0.402	0.43245	0.1749357433	0.17121	.	.	.	.	.	.	.	.	.	.	-0.183979	0.23146	T	-0.502049	0.22134	T	0.0180415985113084	0.00528	T	0.512349	0.16405	T	.	.	.	.	.	.	.	.	-4.897	0.35701	T	.	.	0.147	0.42763	B	.;.	.;.	1.502809	0.19314	14.20	0.96065677485578227	0.28608	0.00309	0.01636	N	AEFI	0.042538	0.06613	N	-0.762148880560643	0.14305	0.7115088	-1.00452816158071	0.09685	0.4832972	1.09537333666636E-6	0.01202	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	.	.	.	0.133000	0.15736	0.117000	0.14863	0.194000	0.17875	0.011000	0.18532	0.000000	0.08366	0.001000	0.02609	.	.	.	749	0.51929	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	79.63	22	chr16	29485712	.	G	C	79.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.04;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=29.15;MQRankSum=-2.155;QD=1.17;ReadPosRankSum=0.095;SOR=0.034	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr16	29810106	29810114	GCAGCGGCA	-	exonic	MAZ	.	nonframeshift deletion	MAZ:NM_001276276:exon3:c.394_402del:p.A141_A143del,MAZ:NM_002383:exon5:c.1309_1317del:p.A446_A448del,MAZ:NM_001276275:exon6:c.1240_1248del:p.A423_A425del	.	329	1048	62	5	78	150	0.0332103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0125	.	0.0097	0.0014	0.0019	0.0059	0.0005	0.0013	0.015	0.0587	3.23e-05	5	154602	rs760562143	0.0044	0.0044	0.0028	0.0060	0.0564	0.0043	0.0043	0.0550	0.0545	0.0009	0.0018	0.0003	0.0031	0.0009	0.0146	0.0009	0.0055	0.0564	0.0034	0.0034	0.0026	0.0042	0.0571	0.0032	0.0031	0.0514	0.0492	0.0010	0	0.0032	0	0.0063	0.0009	0.0252	0.0014	0.0063	0.0571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1206.59	76	chr16	29810105	.	GGCAGCGGCA	G	1206.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.926;DP=269;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.88;ReadPosRankSum=-1.275;SOR=0.611	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1084	6	0	1	0
chr16	29816749	29816749	G	C	exonic	PAGR1	.	nonsynonymous SNV	PAGR1:NM_024516:exon1:c.G224C:p.G75A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00148697796115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.385e-06	1.368e-06	1.376e-06	1.395e-06	1.811e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.811e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.755	0.03533	T	0.729	0.05184	T	0.0	0.02946	B	0.0	0.01387	B	0.850556	0.07055	N	1.080180	1	0.08975	N	0	0.06538	N	.	.	.	-0.22	0.10480	N	0.02	0.00308	-1.0367	0.18326	T	0.018	0.07612	T	9	0.028013319	0.00938	T	0.001487	0.02292	T	0.061	0.17616	0.114	0.02306	0.0675242888579	0.06100	0.05964108332541728	0.05904	.	.	0.315945953131	0.12807	T	0.094171	0.39363	T	-0.368867	0.03651	T	-0.767629	0.02847	T	0.03209838085706	0.02323	T	0.391261	0.09725	T	0.021216288	0.00713	0.026882125	0.00803	0.021216288	0.00713	0.026882125	0.00803	-3.548	0.17110	T	.	.	0.057	0.00593	B	.	.	-0.998299	0.00773	0.025	0.31312332213623167	0.01758	0.00226	0.01270	N	ALL	0.131035	0.24982	N	-1.64403744819171	0.01060	0.04601269	-1.73144875909358	0.01005	0.04504929	0.999999999999998	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	5.34	-10.7	0.00191	-1.933000	0.01644	-0.414000	0.09328	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3121:0.2461:0.2183:0.2235	0.314	0.00272	254	0.90023	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	402.53	23	chr16	29816749	.	G	C	402.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.942;DP=199;ExcessHet=0;FS=3.312;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=0.495;SOR=0.47	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1208	6	0	1	0
chr16	29862598	29862598	C	A	exonic	CDIPT	.	nonsynonymous SNV	CDIPT:NM_006319:exon2:c.G166T:p.A56S	.	385	1134	3	0	0	3	0.001321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0122534848787	.	.	3.435e-05	0	0	0	0	7.312e-05	0	0	6.5e-06	1	154602	rs746361355	3.504e-06	3.42e-06	1.389e-06	5.659e-06	0.0002	1.03e-06	7.5e-07	7.3e-07	2e-07	0	0	0	0	0	0.0002	2.741e-06	0	1.208e-05	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.389	0.11442	T	0.394	0.15506	T	0.188	0.29318	B	0.342	0.42471	B	0.000876	0.41335	D	0.272209	0.993942	0.81001	D	1.93	0.51437	L	1.07	0.39586	T	-1.0	0.26422	N	0.34	0.44474	-0.9789	0.35254	T	0.129	0.43747	T	10	0.30897215	0.48388	T	0.012253	0.30654	T	0.041	0.10877	0.33	0.31519	0.396794106654	0.39292	0.5130382639484812	0.51225	0.387549891034	0.40033	0.439069211483	0.30449	T	0.242474	0.61122	T	-0.116807	0.33647	T	-0.405562	0.32737	T	0.503852605819702	0.32770	D	0.960204	0.84976	D	0.17476985	0.38298	0.12456299	0.30022	0.17476985	0.38298	0.12456299	0.30021	-6.694	0.51765	T	.	.	0.168	0.37044	B	.;.;.;.	.;.;.;.	2.728825	0.35709	19.97	0.98918555655573281	0.48509	0.77977	0.38406	D	AEFDGBHCI	0.424937	0.48990	N	0.0740841156501208	0.45257	2.785203	0.197129241969243	0.49688	3.169168	0.999999999998759	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.657601	0.63696	0	.	.	5.89	4.95	0.64894	2.246000	0.42794	0.574000	0.19636	0.599000	0.40250	1.000000	0.71638	0.967000	0.29559	0.990000	0.65344	0.0:0.7658:0.1534:0.0808	8.544	0.32573	242	0.90534	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	548.63	23	chr16	29862598	.	C	A	548.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.329;DP=200;ExcessHet=0;FS=1.12;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=-0.176;SOR=0.527	GT:AD:DP:GQ:PL	0/1:28,22:50:99:559,0,750	6	0	1	0
chr16	29905873	29905873	-	T	exonic	ASPHD1	.	frameshift insertion	ASPHD1:NM_181718:exon3:c.1150dupT:p.V385Cfs*54	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	3.42e-06	2.724e-06	4.127e-06	4.498e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.498e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	972.79	35	chr16	29905873	.	C	CT	972.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.397;DP=250;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-0.168;SOR=0.693	GT:AD:DP:GQ:PL	0/1:37,37:74:99:983,0,1039	6	0	1	0
chr16	29987216	29987216	G	C	exonic	TAOK2	.	nonsynonymous SNV	TAOK2:NM_016151:exon16:c.G2944C:p.G982R,TAOK2:NM_001252043:exon17:c.G2605C:p.G869R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.130649358497	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.162	0.33219	T	0.976	0.66517	D	0.55	0.64351	P	0.000156	0.49130	D	0.000000	1	0.81001	D	0.695	0.17993	N	-0.81	0.75108	T	-0.7	0.19933	N	0.457	0.63968	-0.5842	0.65451	T	0.348	0.71225	T	9	0.29028314	0.46609	T	0.130649	0.81283	D	0.276	0.59253	0.43	0.47843	0.400930682813	0.39710	0.4246051011271785	0.42377	1.31927576329	0.83411	0.709540426731	0.68527	T	0.155096	0.49668	T	0.0589924	0.59486	T	-0.153038	0.58973	T	0.694411695797167	0.40453	D	0.856614	0.54540	D	0.35485902	0.57443	0.34204224	0.59936	0.35485902	0.57443	0.34204224	0.59935	-3.662	0.18759	T	.	.	0.224	0.46677	B	.;.;.	.;.;.	4.060209	0.60248	24.2	0.99888394265609404	0.96281	0.96481	0.69353	D	AEFDBI	0.466961	0.51439	N	0.381499851225588	0.60421	4.230709	0.447930636120808	0.64582	4.716917	0.297310386543106	0.19152	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.79	4.79	0.60909	4.391000	0.59415	11.919000	0.99774	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	14.849	0.69914	77	0.96778	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	663.49	38	chr16	29987216	.	G	C	663.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.072;DP=251;ExcessHet=0;FS=8.555;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=-0.511;SOR=1.396	GT:AD:DP:GQ:PL	0/1:37,29:66:99:674,0,994	6	0	1	0
chr16	30006930	30006938	CCTGCTCCG	-	exonic	DOC2A	.	nonframeshift deletion	DOC2A:NM_001282068:exon8:c.725_733del:p.A242_Q244del,DOC2A:NM_003586:exon8:c.725_733del:p.A242_Q244del,DOC2A:NM_001282062:exon9:c.725_733del:p.A242_Q244del,DOC2A:NM_001282063:exon9:c.725_733del:p.A242_Q244del	.	356	1163	3	0	0	3	0.00128811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	.	0.0009	0.0004	0	0	0.0003	0.0010	0.0012	0.0019	1.94e-05	3	154602	rs749863198	0.0009	0.0009	0.0009	0.0010	0.0019	0.0009	0.0009	0.0016	0.0016	0.0004	0.0001	0.0001	2.521e-05	0.0004	0.0009	0.0010	0.0005	0.0019	0.0006	0.0006	0.0006	0.0007	0.0019	0.0005	0.0005	0.0010	0.0007	0.0003	0	0.0003	0.0003	0.0002	0.0006	0.0034	0.0009	0.0005	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1730.79	32	chr16	30006929	.	CCCTGCTCCG	C	1730.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.747;DP=251;ExcessHet=0;FS=1.018;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=26.22;ReadPosRankSum=0.357;SOR=0.475	GT:AD:DP:GQ:PL	0/1:22,44:66:99:1741,0,772	6	0	1	0
chr16	30194892	30194892	T	A	exonic	SLX1A;SLX1B	.	nonsynonymous SNV	SLX1A:NM_001014999:exon3:c.T247A:p.W83R,SLX1B:NM_024044:exon3:c.T247A:p.W83R	.	448	1067	7	0	0	7	0.0032695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.789	.	.	.	0.0538	0	0	0	0	0	0.0294	0.0948	0.0001921	5	26028	rs746668760	0.0034	0.0038	0.0019	0.0049	0.0577	0.0033	0.0033	0.0563	0.0557	0.0003	8.815e-05	8.264e-05	8.531e-05	0	0.0010	3.769e-05	0.0037	0.0577	0.0019	0.0021	0.0009	0.0029	0.0595	0.0017	0.0016	0.0538	0.0515	9.69e-05	0	0	0	0	0	0	1.489e-05	0.0005	0.0595	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000008	0.62929	U	0.000000	1	0.81001	D	2.07	0.56829	M	.	.	.	-12.77	0.99816	D	0.729	0.73015	-0.3285	0.74177	T	0.338	0.70404	T	6	0.0107008815	0.00237	T	.	.	.	0.789	0.93028	0.702	0.83869	0.265735104816	0.26182	0.8410725124010231	0.84067	4.91872213902	0.99982	0.931562960148	0.99073	D	0.277513	0.65013	T	0.234003	0.77096	D	0.362781	0.90808	D	0.1218932842707	0.14613	T	.	.	.	0.8855288	0.90127	0.7907788	0.87694	0.8855288	0.90129	0.7907788	0.87695	-11.155	0.80501	D	.	.	0.962	0.88336	P	.	.	4.988896	0.82689	27.9	0.99042650704353963	0.51051	0.97814	0.77329	D	AEFBI	0.695335	0.65404	D	0.0931418476555597	0.46144	2.859297	0.0778036335923834	0.43435	2.645262	0.999112456492939	0.38479	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	3.94	3.94	0.44807	3.745000	0.54838	7.466000	0.59102	0.500000	0.22704	1.000000	0.71638	1.000000	0.68203	0.009000	0.08673	0.0:0.0:0.0:1.0	11.943	0.52196	265	0.89590	GIY-YIG endonuclease|GIY-YIG endonuclease	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	309.63	20	chr16	30194892	.	T	A	309.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.26;DP=199;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=27;MQRankSum=0;QD=9.99;ReadPosRankSum=2.48;SOR=0.434	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,106,1620	6	0	1	0
chr16	30358125	30358125	T	C	exonic	TBC1D10B	.	nonsynonymous SNV	TBC1D10B:NM_015527:exon9:c.A2246G:p.Q749R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.0146370783822	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1203802700	1.429e-06	1.368e-06	1.41e-06	1.449e-06	1.854e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.854e-06	0	0	1.315e-05	1.314e-05	1.286e-05	1.346e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0	0.0002	0.204	0.20078	T	0.463	0.12491	T	0.0	0.02946	B	0.0	0.01387	B	0.083054	0.20774	N	0.292311	0.996933	0.22851	N	-0.69	0.01958	N	-0.01	0.62762	T	-0.55	0.16799	N	0.174	0.18649	-1.0434	0.16294	T	0.092	0.35010	T	10	0.04721877	0.04012	T	0.014637	0.34889	T	0.089	0.25827	0.148	0.05138	0.117191471859	0.11215	0.023856609599408045	0.02336	0.127803943802	0.14414	0.433549284935	0.29694	T	0.004277	0.03690	T	-0.214087	0.18807	T	-0.545298	0.17779	T	0.0533882089272219	0.06086	T	0.809419	0.45992	T	0.046215314	0.07697	0.084024206	0.19299	0.046215314	0.07697	0.084024206	0.19298	-8.997	0.67678	D	.	.	0.076	0.05979	B	.	.	1.060349	0.14419	10.99	0.92014293924420276	0.21351	0.33830	0.24923	N	AEFBI	0.111731	0.22111	N	-0.953825367751756	0.09607	0.4554108	-0.902874181012427	0.12026	0.6162486	0.987606066590472	0.31302	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.11	-1.12	0.09306	0.747000	0.25956	0.447000	0.18483	0.603000	0.45986	0.960000	0.33603	0.773000	0.26716	0.645000	0.32557	0.0:0.3389:0.0:0.6611	7.076	0.24384	185	0.92771	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	995.45	34	chr16	30358125	.	T	C	995.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.934;DP=275;ExcessHet=0;FS=2.671;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=-1.1;SOR=0.55	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1173	6	0	1	0
chr16	30376692	30376692	A	G	exonic	MYLPF	.	nonsynonymous SNV	MYLPF:NM_013292:exon5:c.A350G:p.K117R,MYLPF:NM_001324458:exon7:c.A350G:p.K117R,MYLPF:NM_001324459:exon7:c.A350G:p.K117R	.	415	1102	5	0	0	5	0.00226347	.	.	.	3310777	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.493	0.074159892239	0.0002	0.000199681	0.0003	0.0001	0	0	0	0.0004	0.0012	0.0004	0.0002458	38	154602	rs201552895	0.0002	0.0002	0.0002	0.0002	0.0026	0.0002	0.0002	0.0016	0.0013	0	0.0002	0.0037	0	0	0.0026	0.0001	0.0004	0.0002	0.0003	0.0003	0.0003	0.0003	0.0007	0.0002	0.0002	0.0004	0.0003	2.407e-05	0	0.0007	0.0049	0	0	0.0068	0.0002	0	0.0004	0.004	0.65419	D	0.176	0.31326	T	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.047553	1	0.81001	D	1.675	0.43121	L	-1.21	0.78645	T	-1.41	0.41239	N	0.349	0.39052	-0.4577	0.70145	T	0.353	0.71627	T	10	0.016798884	0.00356	T	0.07416	0.71972	D	0.493	0.77910	.	.	0.890197383101	0.88911	0.7784218383488222	0.77792	0.451854518662	0.44925	0.621175348759	0.55895	T	0.024701	0.61020	T	-0.122614	0.32698	T	-0.107927	0.62777	T	0.041094613169768	0.03889	T	0.525647	0.58316	T	0.32441	0.55010	0.32451844	0.58375	0.32441	0.55010	0.32451844	0.58374	-7.001	0.54041	T	.	.	0.080	0.22354	B	.;.;.;.	.;.;.;.	3.915180	0.57123	23.8	0.9965256039087973	0.77380	0.99260	0.93590	D	AEFDGBI	0.918877	0.88858	D	0.0432102718998163	0.43831	2.668385	0.184767528060638	0.49012	3.10966	0.999999999995378	0.74766	0.653281	0.48532	0	0.550933	0.16991	0	0.675528	0.61593	0	0.633917	0.49826	0	.	.	4.99	4.99	0.65942	5.374000	0.65920	11.206000	0.89223	0.677000	0.82338	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	1.0:0.0:0.0:0.0	13.684	0.61983	179	0.93046	EF-hand domain;EF-hand domain|EF-hand domain;EF-hand domain|EF-hand domain;EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	546.46	25	chr16	30376692	.	A	G	546.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.505;DP=202;ExcessHet=0;FS=3.169;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=-0.732;SOR=1.561	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr16	30525427	30525427	A	C	exonic	ZNF768	.	nonsynonymous SNV	ZNF768:NM_024671:exon2:c.T713G:p.L238R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.0177904800153	.	.	3.334e-05	0	0	0	0	4.561e-05	0.0011	0	2.59e-05	4	154602	rs774644153	2.189e-05	2.189e-05	2.178e-05	2.2e-05	2.608e-05	1.584e-05	1.356e-05	1.83e-05	1.582e-05	0	0	0	0	0	0	2.608e-05	4.967e-05	0	1.971e-05	1.97e-05	1.284e-05	2.69e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.006	0.61437	D	0.43	0.13713	T	0.141	0.27581	B	0.019	0.18783	B	0.003293	0.35154	N	0.000000	1	0.08975	N	0.55	0.14455	N	3.19	0.07599	T	0.73	0.02068	N	0.84	0.83576	-0.9935	0.31696	T	0.013	0.04985	T	10	0.5821323	0.65908	D	0.01779	0.39625	T	0.213	0.50496	0.507	0.60232	0.778744008053	0.77670	0.40248590031979925	0.40164	1.98523485117	0.93674	0.752193927765	0.74770	T	0.014533	0.12356	T	0.020955	0.54511	T	-0.100019	0.63396	T	0.254509329795837	0.23074	T	0.475652	0.14239	T	0.1761409	0.38510	0.18008094	0.40784	0.1761409	0.38510	0.18008094	0.40783	-4.113	0.25481	T	.	.	0.154	0.38227	B	.;.	.;.	4.190628	0.63158	24.5	0.99532216436560805	0.69963	0.14139	0.18243	N	AEFDBHCI	0.071594	0.14258	N	-0.497621807296707	0.22159	1.181218	-0.377974356664632	0.25655	1.412192	0.999999989473997	0.74766	0.718356	0.82227	0	0.606735	0.50208	0	0.570548	0.19454	0	0.636168	0.56350	0	.	.	5.15	5.15	0.70287	5.012000	0.63775	9.205000	0.79205	0.756000	0.94297	0.394000	0.26121	1.000000	0.68203	0.938000	0.47775	0.8337:0.1663:0.0:0.0	10.248	0.42532	243	0.90483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	66.44	39	chr16	30525427	.	A	C	66.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.524;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.524;SOR=1.179	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1168	6	0	1	0
chr16	30525595	30525595	T	C	exonic	ZNF768	.	nonsynonymous SNV	ZNF768:NM_024671:exon2:c.A545G:p.E182G	.	426	1048	47	1	0	49	0.0228438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	0.0026	0.00439297	0.0039	0.0038	0.0010	0.0001	0.0002	0.0025	0.0077	0.0150	0.0035316	546	154602	rs61735343	0.0025	0.0025	0.0021	0.0029	0.0150	0.0024	0.0024	0.0144	0.0141	0.0030	0.0010	0.0012	5.038e-05	0.0008	0.0076	0.0017	0.0030	0.0150	0.0029	0.0029	0.0028	0.0030	0.0155	0.0027	0.0026	0.0127	0.0117	0.0037	0	0.0017	0.0012	0	0.0007	0.0102	0.0025	0.0033	0.0155	0.001	0.78490	D	0.199	0.27679	T	0.131	0.27154	B	0.039	0.23607	B	0.000284	0.46274	D	0.000000	0.536829	0.31445	N	0.695	0.17993	N	3.18	0.07711	T	-0.89	0.24026	N	0.186	0.20262	-1.0139	0.25688	T	0.012	0.04558	T	10	0.0043001175	0.00087	T	.	.	.	0.075	0.21907	.	.	0.082315109003	0.07666	0.37202124606213827	0.37116	0.807358794691	0.66551	0.405187904835	0.25790	T	0.007683	0.07071	T	-0.499077	0.00578	T	-0.476692	0.24798	T	0.0276702102265299	0.01641	T	0.630337	0.24523	T	0.20003097	0.41964	0.1916817	0.42640	0.20003097	0.41964	0.1916817	0.42639	-4.114	0.25496	T	.	.	0.089	0.31733	B	.;.	.;.	1.973226	0.25064	16.63	0.99829335475869052	0.91112	0.69092	0.34052	D	AEFDBCI	0.181558	0.30888	N	-0.479766409328176	0.22745	1.216644	-0.309602595949851	0.27787	1.544414	0.999990811413327	0.74766	0.695654	0.57023	0	0.606735	0.50208	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.06	3.94	0.44807	0.000000	0.12910	1.452000	0.26614	0.665000	0.62972	0.005000	0.17040	1.000000	0.68203	0.947000	0.49155	0.0:0.0:0.1678:0.8322	10.160	0.42020	243	0.90483	.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.004076	0.005848	0.000000	0.000000	0.003049	0.041667	0.07143	761.83	22	chr16	30525595	.	T	C	761.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.178;DP=188;ExcessHet=0;FS=8.123;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.55;ReadPosRankSum=1.32;SOR=0.304	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1168	6	0	1	0
chr16	30532534	30532534	G	A	exonic	ZNF747	.	stopgain	ZNF747:NM_001305018:exon3:c.C961T:p.Q321X,ZNF747:NM_001305019:exon3:c.C958T:p.Q320X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0002	0	0	0	0	3.349e-05	0	0.0012	9.7e-05	15	154602	rs567840441	5.847e-05	6.088e-05	3.009e-05	8.719e-05	0.0010	4.836e-05	4.456e-05	0.0008	0.0007	0	0	0	0	0	0	0	3.325e-05	0.0010	2.625e-05	2.624e-05	2.569e-05	2.684e-05	0.0006	8.13e-06	5.14e-06	0.0002	8.981e-05	2.405e-05	0	0	0	0	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889809	0.81001	A	.	.	.	.	.	.	.	.	.	0.064	0.03613	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.80804	D	0.536677	0.95345	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.369730	0.95097	34	0.95147003530319241	0.26275	0.19931	0.20850	N	AEFBI	0.081889	0.16576	N	-0.625742763799011	0.18175	0.9414148	-0.730428312689588	0.16205	0.856124	0.999818453020186	0.43459	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	2.2	1.16	0.19936	0.427000	0.21098	8.040000	0.76310	0.373000	0.20310	0.000000	0.06391	1.000000	0.68203	0.075000	0.16954	0.1515:0.0:0.8485:0.0	7.010	0.24039	218	0.91525	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1640.53	34	chr16	30532534	.	G	A	1640.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.119;DP=301;ExcessHet=0;FS=0.669;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-2.119;SOR=0.654	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1101	6	0	1	0
chr16	30532740	30532740	G	A	exonic	ZNF747	.	nonsynonymous SNV	ZNF747:NM_001305018:exon3:c.C755T:p.A252V,ZNF747:NM_001305019:exon3:c.C752T:p.A251V	.	401	1085	34	2	0	38	0.0172101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	.	0.00479233	0.0201	0.0010	0.0036	0.0035	0	0.0058	0.0141	0.0323	0.0028848	446	154602	rs62056326	0.0023	0.0022	0.0014	0.0031	0.0269	0.0022	0.0022	0.0259	0.0255	6.326e-05	0.0018	0.0100	8.377e-05	0	0.0105	0.0004	0.0031	0.0269	0.0016	0.0016	0.0011	0.0020	0.0244	0.0014	0.0013	0.0209	0.0195	0.0003	0	0.0018	0.0104	0.0006	0	0	0.0005	0.0033	0.0244	0.306	0.14207	T	0.326	0.18789	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.1	0.19990	T	-1.61	0.38734	N	0.264	0.29889	-1.0208	0.23454	T	0.035	0.14987	T	6	0.007573873	0.00172	T	.	.	.	.	.	.	.	0.330069100803	0.32608	0.2211802338393261	0.22033	.	.	.	.	.	0.011133	0.09975	T	-0.683035	0.00046	T	-0.732959	0.04194	T	0.0268026784277782	0.01516	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.801	0.77339	P	.	.	2.407050	0.30930	18.59	0.98804674367651779	0.46509	0.04231	0.09751	N	AEFDBI	0.077888	0.15703	N	-0.643886049939535	0.17638	0.9093302	-0.808736692208538	0.14284	0.7455574	0.999958410287798	0.48110	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	2.2	2.2	0.26966	-0.311000	0.08164	3.537000	0.38984	0.373000	0.20310	0.000000	0.06391	0.605000	0.25739	0.079000	0.17189	0.0:0.0:1.0:0.0	12.109	0.53126	218	0.91525	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	690.44	34	chr16	30532740	.	G	A	690.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.137;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=0.081;SOR=0.713	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1101	6	0	1	0
chr16	30698184	30698195	AGTGGTGGTGGT	-	exonic	LOC730183	.	nonframeshift deletion	LOC730183:NM_001256932:exon1:c.114_125del:p.P39_L42del	.	434	1084	3	0	1	4	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	.	0	0	0	0	0	3.84e-05	1	26028	rs755852258	5.774e-05	5.131e-05	4.946e-05	6.66e-05	0.0010	4.58e-05	4.151e-05	0.0007	0.0006	0.0010	0	0	0.0006	0	0.0004	1.133e-05	0.0001	0.0002	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0005	0.0005	0.0007	0	6.532e-05	0	0.0002	0	0	4.41e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1388.59	33	chr16	30698183	.	GAGTGGTGGTGGT	G	1388.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.643;DP=270;ExcessHet=0;FS=2.92;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.34;ReadPosRankSum=2.64;SOR=1.121	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1080	6	0	1	0
chr16	30698188	30698188	G	T	exonic	LOC730183	.	nonsynonymous SNV	LOC730183:NM_001256932:exon1:c.C121A:p.P41T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1023781740	1.241e-05	1.368e-05	1.106e-05	1.386e-05	0.0004	6.93e-06	5.34e-06	2.084e-05	1.3e-05	0	7.217e-05	0	0	0	0.0004	6.837e-06	2.677e-05	6.362e-05	1.97e-05	1.97e-05	3.856e-05	0	4.411e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1043.83	33	chr16	30698188	.	G	T	1043.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.037;DP=333;ExcessHet=0.3476;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.7;ReadPosRankSum=0.499;SOR=0.722	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1080	6	0	1	0
chr16	30698188	30698188	G	0	exonic	LOC730183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1043.83	33	chr16	30698188	.	G	*	1043.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.037;DP=333;ExcessHet=0.3476;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.7;ReadPosRankSum=0.499;SOR=0.722	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1080	6	0	1	0
chr16	30721189	30721189	T	C	exonic	SRCAP	.	nonsynonymous SNV	SRCAP:NM_006662:exon21:c.T3254C:p.V1085A	Floating-Harbor syndrome, Autosomal dominant	0	1521	1	0	0	1	0.000328623	0.0099	0.06	.	1370458	not_provided|Developmental_delay,_hypotonia,_musculoskeletal_defects,_and_behavioral_abnormalities|Floating-Harbor_syndrome|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0859202,MedGen:C5562012,OMIM:619595|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140,Orphanet:2044|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.318	0.277071188618	7.7e-05	.	4.424e-05	0	0	0	0	7.747e-05	0	0	3.23e-05	5	154602	rs200083101	4.483e-05	4.446e-05	5.069e-05	3.888e-05	0.0005	3.604e-05	3.283e-05	0.0001	7.628e-05	0	0	0	0	0	0.0005	5.427e-05	3.339e-05	0	5.909e-05	5.905e-05	6.425e-05	5.371e-05	0.0001	3.075e-05	2.209e-05	4.766e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0.0009	0	0.002	0.72154	D	0.118	0.38016	T	0.984	0.60733	D	0.956	0.69739	D	.	.	.	.	1	0.81001	D	0.345	0.11182	N	-2.72	0.90622	D	-0.76	0.21215	N	0.566	0.62950	0.316	0.87806	D	0.679	0.88903	D	8	0.38998735	0.54821	T	0.277071	0.90095	D	0.318	0.64008	.	.	0.0675242888579	0.06100	0.1493581885449065	0.14857	0.645836694259	0.58019	0.668790280819	0.62665	T	0.032871	0.22674	T	-0.00164758	0.51428	T	-0.0391058	0.67762	D	0.179481085729278	0.19202	T	0.756024	0.38041	T	0.11289432	0.26666	0.15787101	0.36894	0.11289432	0.26665	0.15787101	0.36893	-4.379	0.29271	T	.	.	0.188	0.40457	B	.;.	.;.	3.714085	0.53042	23.3	0.96183305973612898	0.28966	0.84765	0.43853	D	AEFBCI	0.231077	0.35436	N	0.400433757522895	0.61446	4.345873	0.440008840421004	0.64079	4.654892	0.999998005885798	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.702456	0.68683	0	0.733575	0.97253	0	.	.	5.36	5.36	0.76624	4.728000	0.61694	6.137000	0.53999	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.0:1.0	12.981	0.57968	10	0.99061	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1140.49	35	chr16	30721189	.	T	C	1140.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.702;DP=292;ExcessHet=0;FS=1.574;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-2.139;SOR=0.866	GT:AD:DP:GQ:PL	0/1:54,48:102:99:1151,0,1345	6	0	1	0
chr16	30979984	30979984	C	T	exonic	SETD1A	.	nonsynonymous SNV	SETD1A:NM_014712:exon14:c.C4198T:p.R1400C	.	631	884	6	1	0	8	0.0045045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	.	.	0.0161741	0.0490	0	0.025	0	0	0.0004	0.0213	0.0713	0.0042626	659	154602	rs557095006	0.0041	0.0040	0.0022	0.0061	0.0707	0.0040	0.0040	0.0691	0.0684	0.0002	0.0001	8.625e-05	0	2.445e-05	0.0008	8.09e-05	0.0040	0.0707	0.0036	0.0036	0.0021	0.0051	0.0839	0.0033	0.0032	0.0771	0.0745	0.0001	0.1311	0.0002	0	0.0002	0	0	0.0001	0.0005	0.0839	0.005	0.63226	D	0.172	0.30241	T	0.431	0.35606	B	0.109	0.31370	B	0.006738	0.31837	N	0.250098	0.99999	0.58761	D	0.55	0.14455	N	0.43	0.56772	T	-1.21	0.30762	N	0.163	0.17140	-1.0382	0.17863	T	0.081	0.32002	T	10	0.0017291903	0.00022	T	.	.	.	0.102	0.29158	.	.	.	.	0.5353472984659371	0.53459	0.304605667835	0.32764	0.855499386787	0.90442	D	0.026785	0.19750	T	-0.479926	0.00740	T	-0.407084	0.32562	T	0.0169524249608776	0.00446	T	0.761624	0.38671	T	0.099416025	0.23461	0.055610847	0.09786	0.099416025	0.23461	0.055610847	0.09786	-6.97	0.53814	T	.	.	0.303	0.53261	B	.	.	2.642810	0.34393	19.61	0.79431878100807918	0.12739	0.34742	0.25139	N	AEFDBHCI	0.125505	0.24204	N	-0.703605897555126	0.15920	0.8066206	-0.747253410266405	0.15789	0.8321826	0.99999734650294	0.74766	0.696267	0.57585	0	0.71359	0.82159	0	0.691665	0.62940	0	0.491896	0.07777	0	.	.	3.96	2.97	0.33479	0.655000	0.24618	3.711000	0.39556	0.518000	0.23583	0.021000	0.19753	1.000000	0.68203	0.016000	0.10718	0.387:0.613:0.0:0.0	9.788	0.39856	37	0.98026	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.011348	0.000000	0.003984	0.008130	0.000000	0.000000	0.000000	0.049020	0.08333	800.27	13	chr16	30979984	.	C	T	800.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.534;DP=128;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=26.68;ReadPosRankSum=2.01;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:26,0:26:57:.:.:0,57,855:.	5	0	1	1
chr16	30986970	30986970	C	T	exonic	HSD3B7	.	nonsynonymous SNV	HSD3B7:NM_025193:exon6:c.C662T:p.P221L	Bile acid synthesis defect, congenital, 1, Autosomal recessive	1	1516	5	0	0	5	0.00164636	.	.	.	2368766	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.367	0.0600088840785	.	.	5.123e-05	0	0	0	0	3.119e-05	0	0.0002	3.88e-05	6	154602	rs760795184	2.533e-05	2.531e-05	1.907e-05	3.165e-05	0.0002	1.869e-05	1.632e-05	9.792e-05	7.839e-05	0	0	0	2.52e-05	0	0	1.619e-05	6.626e-05	0.0002	6.57e-06	6.567e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.013	0.53900	D	0.074	0.42976	T	0.999	0.77913	D	0.981	0.75168	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.3	0.65703	M	-0.02	0.62918	T	-4.8	0.80682	D	0.77	0.76760	-0.4119	0.71649	T	0.403	0.75395	T	10	0.8574314	0.84946	D	0.060009	0.67859	D	0.367	0.68670	.	.	0.863288365034	0.86196	0.8329859681696861	0.83257	0.953755764185	0.72739	0.589620351791	0.51441	T	0.706375	0.91588	D	-0.0596841	0.42958	T	-0.0638294	0.66062	T	0.875003814697266	0.52487	D	0.861914	0.55630	D	0.56329495	0.70691	0.46565235	0.68992	0.56329495	0.70693	0.46565235	0.68992	-10.882	0.79007	D	0.5268782120739659	0.59831	0.571	0.67685	P	.	.	4.515034	0.70739	25.6	0.99899197684066066	0.97124	0.99507	0.96863	D	AEFDBI	0.832523	0.75089	D	0.72493691439895	0.81265	7.48233	0.726278211616267	0.84375	8.274133	1.0	0.98316	0.653496	0.48692	0	0.601575	0.49859	0	0.596874	0.31795	0	0.567892	0.33627	0	.	.	5.65	5.65	0.86881	3.260000	0.51225	7.641000	0.63200	0.596000	0.33519	0.995000	0.38783	1.000000	0.68203	0.492000	0.28837	0.0:1.0:0.0:0.0	18.498	0.90820	37	0.98026	3-beta hydroxysteroid dehydrogenase/isomerase	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1190.27	36	chr16	30986970	.	C	T	1190.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.201;DP=267;ExcessHet=0;FS=2.027;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.87;ReadPosRankSum=0.371;SOR=0.97	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	1
chr16	31111902	31111902	A	T	exonic	BCKDK	.	nonsynonymous SNV	BCKDK:NM_001271926:exon10:c.A879T:p.K293N,BCKDK:NM_001122957:exon11:c.A969T:p.K323N,BCKDK:NM_005881:exon11:c.A969T:p.K323N	Branched-chain ketoacid dehydrogenase kinase deficiency	7	1514	1	0	0	1	0.000330142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.00752141746772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.17296	T	0.396	0.15206	T	0.0	0.02946	B	0.001	0.04355	B	0.000631	0.42799	D	0.286199	0.625518	0.30743	N	0.66	0.16226	N	-1.02	0.76300	T	0.07	0.10480	N	0.208	0.23253	-0.9705	0.37094	T	0.197	0.55215	T	10	0.10603279	0.19627	T	0.007521	0.19952	T	0.170	0.43303	0.553	0.66995	0.562729887668	0.55935	0.3893388727411269	0.38848	0.649957011569	0.58288	0.300687372684	0.10503	T	0.103708	0.41260	T	-0.151186	0.28125	T	-0.454945	0.27151	T	0.232382386922836	0.22064	T	0.80142	0.47570	T	0.038978733	0.05295	0.037779145	0.03503	0.038978733	0.05295	0.037779145	0.03503	-4.172	0.29652	T	0.1061061244724306	0.08491	0.168	0.36928	B	.;.;.;.	.;.;.;.	1.302262	0.17042	12.92	0.97779622464268157	0.35925	0.21268	0.21341	N	AEFDBCI	0.273390	0.38881	N	-0.720089357624492	0.15458	0.7791644	-0.62261035347524	0.18912	1.012453	0.999417780749428	0.39577	0.732398	0.92422	0	0.697927	0.68747	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.66	0.843	0.18076	-1.626000	0.02137	.	.	0.691000	0.84096	0.000000	0.06391	1.000000	0.68203	0.981000	0.58702	0.3161:0.1798:0.2778:0.2263	0.394	0.00387	52	0.97609	Histidine kinase/HSP90-like ATPase|Signal transduction histidine kinase-related protein, C-terminal|Histidine kinase domain|Histidine kinase/HSP90-like ATPase|Histidine kinase/HSP90-like ATPase;.;.;Histidine kinase/HSP90-like ATPase|Signal transduction histidine kinase-related protein, C-terminal|Histidine kinase domain|Histidine kinase/HSP90-like ATPase|Histidine kinase/HSP90-like ATPase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1534.63	34	chr16	31111902	.	A	T	1534.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.084;DP=338;ExcessHet=0;FS=2.073;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-0.588;SOR=0.505	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1160	6	0	1	0
chr16	31325336	31325377	TCCTACAGGACACAGGTCACCTTCTTCTTCCCGCTTGACCTG	-	exonic	ITGAM	.	nonframeshift deletion	ITGAM:NM_000632:exon20:c.2437_2478del:p.T816_R829del,ITGAM:NM_001145808:exon20:c.2440_2481del:p.T817_R830del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	37.4	35	chr16	31325335	.	CTCCTACAGGACACAGGTCACCTTCTTCTTCCCGCTTGACCTG	C	37.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.085;DP=398;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.67;ReadPosRankSum=1.09;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:94,0:94:99:.:.:0,120,1800:.	6	0	1	0
chr16	31462515	31462515	G	C	exonic	ARMC5	.	nonsynonymous SNV	ARMC5:NM_001105247:exon3:c.G968C:p.G323A,ARMC5:NM_024742:exon3:c.G968C:p.G323A,ARMC5:NM_001301820:exon4:c.G1064C:p.G355A,ARMC5:NM_001288767:exon5:c.G1253C:p.G418A	ACTH-independent macronodular adrenal hyperplasia 2, Autosomal dominant, Somatic mutation	427	1081	14	0	0	14	0.00643382	.	.	YES	755145	not_provided|ARMC5-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.042	0.0216800030384	0.0011	0.000798722	0.0012	0.0002	0.0002	0	0	0.0012	0.0079	0.0032	0.0010608	164	154602	rs35461188	0.0008	0.0008	0.0006	0.0009	0.0082	0.0007	0.0007	0.0063	0.0056	8.961e-05	0.0006	0.0023	2.52e-05	0	0.0082	0.0005	0.0012	0.0037	0.0007	0.0008	0.0006	0.0009	0.0025	0.0006	0.0006	0.0019	0.0017	4.808e-05	0	0.0025	0.0012	0	0	0.0068	0.0008	0.0009	0.0025	0.806	0.05061	T	0.683	0.18560	T	0.734	0.42776	P	0.391	0.44178	B	0.000031	0.55875	D	0.120614	1	0.81001	D	0.95	0.23787	L	2.25	0.17761	T	-0.3	0.11913	N	0.295	0.33469	-1.0767	0.08003	T	0.029	0.12234	T	10	0.009355068	0.00211	T	0.02168	0.44481	T	0.042	0.11227	.	.	0.370608029945	0.36667	0.5423250265443574	0.54157	0.698064989519	0.60947	0.617535591125	0.55381	T	0.006791	0.06218	T	-0.5505	0.00290	T	-0.566583	0.15764	T	0.00440455106771608	0.00047	T	0.706929	0.31753	T	0.053502858	0.10134	0.06439192	0.12899	0.06651023	0.14318	0.06819258	0.14209	-2.753	0.30122	T	0.10966351968876943	0.09179	0.080	0.14751	B	.;.;.;.;.	.;.;.;.;.	2.396339	0.30777	18.54	0.72839157665172682	0.10114	0.38745	0.26057	N	AEFDBI	0.075043	0.15058	N	-0.468066813137788	0.23133	1.24008	-0.337736843638026	0.26891	1.488347	0.211540477378153	0.18245	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.51	3.55	0.39770	1.396000	0.34140	.	.	0.674000	0.70861	0.922000	0.32020	1.000000	0.68203	0.970000	0.54328	0.0:0.3542:0.6458:0.0	11.329	0.48700	385	0.83500	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.000000	0.005435	0.011696	0.000000	0.008621	0.006098	0.011364	0.07143	1195.53	34	chr16	31462515	.	G	C	1195.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.7;DP=269;ExcessHet=0;FS=4.207;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=1.19;SOR=0.921	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	6	0	1	0
chr16	31484732	31484732	G	A	exonic	SLC5A2	.	nonsynonymous SNV	SLC5A2:NM_003041:exon2:c.G186A:p.M62I	Renal glucosuria, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.781	0.210501463153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48642	D	0.109	0.49120	T	0.985	0.61118	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.205	0.62170	M	-2.42	0.88611	D	-3.41	0.67129	D	0.668	0.67650	0.695	0.93116	D	0.797	0.93125	D	10	0.9410808	0.93433	D	0.210501	0.87255	D	0.781	0.92705	0.831	0.94042	0.944071055064	0.94348	0.8369336693061792	0.83653	0.345386298951	0.36448	0.597132444382	0.52500	T	0.060725	0.77471	T	0.214527	0.75258	D	0.0703763	0.74935	D	0.977208971977234	0.71734	D	0.884012	0.60954	D	0.6389645	0.74776	0.54659826	0.73790	0.6389645	0.74777	0.54659826	0.73790	-9.367	0.70028	D	.	.	0.656	0.82688	P	.;.	.;.	4.968813	0.82213	27.7	0.99695401195536215	0.80248	0.95067	0.63317	D	AEFDGBHCI	0.933226	0.92478	D	0.800257308993656	0.86123	8.785099	0.771463573047138	0.87748	9.331013	1.0	0.98316	0.623204	0.39778	0	0.59043	0.45803	0	0.378051	0.06126	2	0.562822	0.20929	0	.	.	5.13	5.13	0.69729	6.707000	0.74478	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:1.0:0.0	16.122	0.81171	310	0.87484	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	842.45	36	chr16	31484732	.	G	A	842.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.629;DP=262;ExcessHet=0;FS=5.747;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=-2.028;SOR=0.509	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1129	6	0	1	0
chr16	31508081	31508081	G	T	exonic	RUSF1	.	nonsynonymous SNV	RUSF1:NM_022744:exon1:c.C293A:p.S98Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.0667393589518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.891	0.49025	P	0.532	0.48601	P	0.000000	0.84330	D	0.048639	0.999214	0.81001	D	.	.	.	0.84	0.47477	T	-3.43	0.67359	D	0.705	0.72656	-0.8158	0.54196	T	0.170	0.51101	T	10	0.73347884	0.74459	D	0.066739	0.69964	D	0.286	0.60456	0.683	0.82078	0.745268752542	0.74297	0.7195133327437494	0.71894	0.434279931374	0.43557	.	.	.	0.291971	0.68324	T	0.101498	0.64454	D	-0.0919819	0.64013	T	0.992693185806274	0.83242	D	0.969703	0.93285	D	0.8958436	0.91014	0.9197191	0.96378	0.8958436	0.91015	0.9197191	0.96379	-16.556	0.98481	D	.	.	0.941	0.85983	P	.;.;.;.	.;.;.;.	5.246978	0.88089	29.5	0.99076666869769148	0.51858	0.91699	0.54076	D	AEFDBHCI	0.570571	0.57490	D	0.295926956511068	0.55941	3.758316	0.294566482106381	0.55220	3.68541	0.99999999999973	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	5.66	5.66	0.87293	6.765000	0.74760	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	15.244	0.73188	341	0.85936	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.23	18	chr16	31508081	.	G	T	33.23	.	AC=2;AF=0.143;AN=14;DP=91;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:18,0:18:54:0,54,554	6	1	0	0
chr16	31916369	31916369	G	A	exonic	ZNF267	.	nonsynonymous SNV	ZNF267:NM_003414:exon4:c.G2120A:p.R707Q,ZNF267:NM_001265588:exon5:c.G2024A:p.R675Q	.	432	1077	11	2	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000816012745926	0.0014	0.000798722	0.0016	0.0002	0.0011	0.0001	0	0.0024	0.0022	0.0010	0.0014877	230	154602	rs146914846	0.0012	0.0012	0.0012	0.0012	0.0049	0.0012	0.0011	0.0035	0.0030	0.0002	0.0013	0.0144	5.042e-05	9.364e-05	0.0049	0.0009	0.0022	0.0012	0.0012	0.0012	0.0010	0.0014	0.0021	0.0011	0.0010	0.0015	0.0013	0.0004	0	0.0021	0.0122	0	0	0.0104	0.0011	0.0029	0.0017	0.851	0.02732	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999777	0.20412	N	-0.195	0.04202	N	2.26	0.17596	T	0.1	0.05810	N	0.039	0.01274	-0.9207	0.45458	T	0.010	0.03537	T	9	0.0035986304	0.00065	T	8.16E-4	0.00649	T	0.018	0.03083	.	.	0.0611884634855	0.05136	0.021880521238061168	0.02140	0.147075874367	0.16591	0.206648498774	0.00677	T	0.002559	0.01954	T	-0.687862	0.00043	T	-0.78547	0.02292	T	7.20058960723691e-05	0.00001	T	0.433057	0.11799	T	0.015028422	0.00119	0.028979275	0.01186	0.015028422	0.00119	0.028979275	0.01186	-0.836	0.00835	T	.	.	0.085	0.10400	B	.	.	0.543270	0.09120	5.902	0.47951912305285999	0.03962	0.00001	0.00044	N	AEFDBHCI	0.019052	0.00628	N	-1.80176376856197	0.00541	0.02328854	-1.82422774107859	0.00685	0.03046993	0.939816240523632	0.27404	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	0.468	-0.935	0.09893	0.083000	0.14718	.	.	-0.440000	0.05175	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.7045:0.0:0.2955:0.0	4.188	0.09869	680	0.59965	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.005435	0.005848	0.050000	0.000000	0.009146	0.003788	0.07143	1124.44	84	chr16	31916369	.	G	A	1124.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.22;DP=291;ExcessHet=0;FS=4.246;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-0.358;SOR=1.268	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr16	46604420	46604420	A	G	exonic	SHCBP1	.	nonsynonymous SNV	SHCBP1:NM_001324318:exon6:c.T617C:p.I206T,SHCBP1:NM_024745:exon6:c.T731C:p.I244T	.	.	.	.	.	.	.	.	.	.	.	3314400	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	0.00549220050998	.	.	2.482e-05	0	8.642e-05	0	0	3.009e-05	0	0	1.94e-05	3	154602	rs775811918	6.294e-05	6.293e-05	6.126e-05	6.464e-05	0.0002	5.228e-05	4.846e-05	5.849e-05	4.966e-05	0.0001	0.0001	0	2.52e-05	0	0.0002	6.656e-05	6.623e-05	1.159e-05	1.971e-05	1.97e-05	1.284e-05	2.689e-05	6.54e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.54e-05	0	0	0	0	2.94e-05	0	0	0.038	0.42783	D	0.044	0.49663	D	0.068	0.23728	B	0.014	0.16862	B	0.000797	0.41772	D	0.235880	0.932818	0.27011	N	1.39	0.34934	L	1.97	0.22067	T	-1.23	0.31170	N	0.182	0.19728	-1.0537	0.13386	T	0.034	0.14596	T	10	0.123359025	0.23417	T	0.005492	0.14136	T	0.050	0.13987	0.446	0.50466	0.110078149338	0.10416	0.22071329937377873	0.21986	0.30992876503	0.33302	0.552464962006	0.46206	T	0.035275	0.23656	T	-0.303789	0.08307	T	-0.477177	0.24747	T	0.0930685326457024	0.11578	T	0.869013	0.57273	D	0.08483444	0.19653	0.06785156	0.14092	0.08483444	0.19653	0.06785156	0.14091	-4.44	0.30096	T	.	.	0.073	0.04723	B	.	.	2.774911	0.36435	20.2	0.54228954808632635	0.05096	0.96180	0.67901	D	AEGBI	0.432672	0.49445	N	-0.63163196520366	0.17999	0.9309693	-0.539856801026014	0.21076	1.138429	0.999825233874278	0.43622	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.13	3.04	0.34171	4.413000	0.59549	3.976000	0.40865	0.691000	0.84096	0.982000	0.35529	0.107000	0.22748	0.982000	0.59238	0.9164:0.0:0.0836:0.0	9.795	0.39896	373	0.84140	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	572.49	35	chr16	46604420	.	A	G	572.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.232;DP=236;ExcessHet=0;FS=1.136;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=-1.522;SOR=1.03	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1053	6	0	1	0
chr16	47083741	47083741	A	G	exonic	NETO2	.	nonsynonymous SNV	NETO2:NM_001201477:exon9:c.T1037C:p.I346T,NETO2:NM_018092:exon9:c.T1058C:p.I353T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.422	0.00943240720859	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	0.682	0.41464	P	0.115	0.31843	B	0.012666	0.29095	N	0.406056	0.999982	0.54805	D	1.355	0.33814	L	1.97	0.26301	T	-2.57	0.55501	D	0.334	0.47487	-0.9325	0.43770	T	0.122	0.42357	T	9	0.416715	0.56591	T	0.009432	0.24716	T	0.422	0.73078	0.754	0.88402	0.505151966591	0.50154	0.634390010513634	0.63373	0.51785617826	0.49650	0.411043643951	0.26602	T	0.073449	0.34700	T	-0.0948626	0.37274	T	-0.37404	0.36418	T	0.913325130939484	0.56955	D	0.870113	0.57479	D	0.24897993	0.47889	0.3207415	0.58028	0.24897993	0.47889	0.3207415	0.58027	-10.775	0.78823	D	.	.	0.563	0.67327	A	.;.	.;.	3.343552	0.46082	22.2	0.99402501367817964	0.62887	0.99175	0.92335	D	AEFBI	0.886049	0.81711	D	0.185509373137387	0.50503	3.239703	0.310611830374193	0.56162	3.779247	0.999999897983893	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.78	5.78	0.91418	9.312000	0.95349	9.262000	0.79568	0.756000	0.94297	0.993000	0.37899	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	16.114	0.81093	474	0.77851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1387.44	34	chr16	47083741	.	A	G	1387.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.553;DP=300;ExcessHet=0;FS=2.45;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.137;SOR=0.938	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	6	0	1	0
chr16	48270018	48270018	C	T	exonic	LONP2	.	nonsynonymous SNV	LONP2:NM_001300948:exon6:c.C853T:p.R285C,LONP2:NM_001348078:exon7:c.C985T:p.R329C,LONP2:NM_031490:exon7:c.C985T:p.R329C	.	434	1086	1	1	0	3	0.00137931	.	.	.	2435972	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.101	0.00537639713445	7.7e-05	.	0.0001	0	8.738e-05	0	0	0.0002	0	0	9.06e-05	14	154602	rs377497324	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	6.115e-05	3.041e-05	6.003e-05	2.253e-05	0.0036	0	0	0.0003	4.41e-05	0.0005	4.653e-05	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	8.727e-05	4.743e-05	3.056e-05	0.0001	0	6.553e-05	0.0032	0	0	0	8.821e-05	0	0	0.121	0.27904	T	0.088	0.40586	T	0.002	0.09854	B	0.001	0.04355	B	0.000049	0.53742	D	0.203518	0.999995	0.58761	D	1.295	0.32453	L	0.98	0.42122	T	-3.64	0.71639	D	0.248	0.28028	-1.0605	0.11632	T	0.099	0.37034	T	10	0.02783528	0.00923	T	0.005376	0.13771	T	0.101	0.28911	.	.	0.71323274049	0.71072	0.3555620230453855	0.35470	0.345560330002	0.36465	0.618086576462	0.55458	T	0.221029	0.58448	T	-0.256196	0.13349	T	-0.424256	0.30588	T	0.074866458773613	0.09317	T	0.939006	0.93576	D	0.19054785	0.40644	0.13460405	0.32250	0.19054785	0.40644	0.13460405	0.32250	-5.226	0.44250	T	.	.	0.087	0.11366	B	.;.	.;.	3.904330	0.56897	23.8	0.99372698351693478	0.61498	0.91818	0.54329	D	AEFBI	0.516953	0.54328	D	0.0334752048305106	0.43383	2.632317	0.222739066673647	0.51111	3.29657	0.984761948308411	0.30771	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	2.992000	0.49106	5.932000	0.51336	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9277:0.0:0.0723	13.938	0.63549	440	0.80101	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	306.33	14	chr16	48270018	.	C	T	306.33	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.874;DP=138;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=21.88;ReadPosRankSum=0.861;SOR=0.76	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,948	5	0	1	1
chr16	50304430	50304430	C	T	exonic	ADCY7	.	nonsynonymous SNV	ADCY7:NM_001114:exon11:c.C1439T:p.A480V,ADCY7:NM_001286057:exon11:c.C1439T:p.A480V	.	428	1060	30	4	0	38	0.0176089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.693	.	0.0039	0.00399361	0.0056	0.0004	0.0038	0.0001	0.0003	0.0063	0.0086	0.0130	0.005097	788	154602	rs61731915	0.0045	0.0045	0.0041	0.0049	0.0145	0.0044	0.0043	0.0120	0.0111	0.0015	0.0040	0.0191	0	0.0002	0.0145	0.0039	0.0058	0.0117	0.0036	0.0036	0.0034	0.0037	0.0149	0.0033	0.0032	0.0121	0.0111	0.0007	0	0.0033	0.0187	0.0006	0.0004	0.0136	0.0045	0.0052	0.0149	0.035	0.43708	D	0.058	0.46182	T	0.997	0.90584	D	0.862	0.75793	P	0.001013	0.40652	U	0.000000	1	0.81001	D	2.725	0.79712	M	-1.64	0.82533	D	-2.67	0.57110	D	0.665	0.69125	-0.0053	0.82146	T	0.504	0.81310	D	10	0.011714339	0.00255	T	.	.	.	0.693	0.88867	.	.	0.907111758557	0.90618	0.6667425496569043	0.66612	1.30625617506	0.83127	0.73498237133	0.72235	T	0.620045	0.88077	D	-0.053831	0.43863	T	0.159294	0.80762	D	0.0264179003572966	0.01463	T	0.965953	0.87464	D	0.20631067	0.42801	0.19506215	0.43162	0.20631067	0.42801	0.19506215	0.43161	-12.988	0.89314	D	.	.	0.349	0.65846	A	.;.;.	.;.;.	5.279062	0.88641	29.7	0.99941668848422993	0.99797	0.98540	0.83876	D	AEFDBCIJ	0.892021	0.82856	D	0.545402599546706	0.69801	5.409121	0.564697067074673	0.72428	5.807951	1.0	0.98316	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	4.83	4.83	0.61880	7.877000	0.85647	7.650000	0.63651	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:1.0:0.0:0.0	17.917	0.88874	754	0.51307	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018182	0.000000	0.024457	0.020468	0.100000	0.000000	0.021472	0.011450	0.07143	1759.44	34	chr16	50304430	.	C	T	1759.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.839;DP=329;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.186;SOR=0.659	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1378	6	0	1	0
chr16	50669118	50669118	A	G	exonic	SNX20	.	nonsynonymous SNV	SNX20:NM_153337:exon4:c.T313C:p.Y105H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00300890923964	.	.	5.021e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs775853805	4.49e-06	8.904e-06	1.484e-06	7.546e-06	6.413e-05	1.62e-06	1.06e-06	2.473e-05	1.56e-05	0	0	0	0	0	0	9.788e-07	0	6.413e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.68	0.51952	T	0.26	0.04380	N	0.105	0.08925	-1.0079	0.27572	T	0.075	0.30303	T	8	0.046744525	0.03904	T	0.003009	0.06457	T	0.056	0.15993	0.142	0.04556	0.17258766438	0.16869	.	.	.	.	.	.	.	.	.	.	-0.461988	0.00955	T	-0.705088	0.05552	T	0.0242726447613716	0.01180	T	.	.	.	.	.	.	.	.	.	.	.	-1.936	0.02949	T	.	.	.	.	.	.	.	0.168040	0.05572	2.031	0.21305222156409784	0.00806	0.00181	0.01060	N	AEFBHCI	0.018182	0.00532	N	-1.44978341585961	0.02218	0.09771435	-1.5702585569571	0.01840	0.08383224	0.999813033384949	0.43459	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.38	-2.28	0.06438	-0.030000	0.12257	0.108000	0.14741	-2.084000	0.00402	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.435:0.0:0.3459:0.2191	2.621	0.04619	763	0.50172	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	449.29	34	chr16	50669118	.	A	G	449.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.191;DP=440;ExcessHet=0.3476;FS=161.402;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=0.99;SOR=7.476	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1231:.	5	0	2	0
chr16	51140463	51140463	G	A	exonic	SALL1	.	nonsynonymous SNV	SALL1:NM_001127892:exon2:c.C1468T:p.P490S,SALL1:NM_002968:exon2:c.C1759T:p.P587S	Townes-Brocks branchiootorenal-like syndrome, Autosomal dominant;Townes-Brocks syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.0205993900231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.35918	T	0.146	0.32891	T	0.911	0.50336	P	0.311	0.41430	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.74	0.80084	M	3.15	0.08106	T	-1.18	0.30140	N	0.344	0.39760	-1.1002	0.04067	T	0.038	0.16333	T	10	0.40818578	0.56040	T	0.020599	0.43227	T	0.204	0.49076	0.298	0.26362	0.134007934775	0.12933	0.3384461282502499	0.33757	0.523255955335	0.50038	0.589487075806	0.51422	T	0.326172	0.69682	T	-0.0526092	0.44051	T	-0.313346	0.43299	T	0.928389251232147	0.59180	D	0.844715	0.52235	T	0.14728716	0.33678	0.15147328	0.35679	0.14728716	0.33677	0.15147328	0.35678	-4.505	0.32096	T	0.2645209029930965	0.35674	0.083	0.09045	B	.;.;.	.;.;.	3.701978	0.52801	23.3	0.99848703288324758	0.92838	0.95501	0.64972	D	AEFDBHCI	0.897492	0.83972	D	0.617839638620612	0.74303	6.109771	0.653708281078943	0.78888	6.967615	0.999999999085693	0.74766	0.631515	0.41029	0	0.547309	0.14657	0	0.697927	0.64325	0	0.613276	0.41899	0	.	.	5.32	5.32	0.75377	8.177000	0.89635	9.969000	0.82849	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.786000	0.37147	0.0:0.0:1.0:0.0	18.996	0.92789	884	0.28482	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1161.44	76	chr16	51140463	.	G	A	1161.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.242;DP=282;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.28;ReadPosRankSum=-1.771;SOR=0.64	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,100,1282	6	0	1	0
chr16	53287980	53287980	A	G	exonic	CHD9	.	nonsynonymous SNV	CHD9:NM_001352156:exon26:c.A3791G:p.K1264R,CHD9:NM_001352157:exon26:c.A3791G:p.K1264R,CHD9:NM_001352158:exon26:c.A3692G:p.K1231R,CHD9:NM_001382354:exon26:c.A3692G:p.K1231R,CHD9:NM_001382355:exon26:c.A3692G:p.K1231R,CHD9:NM_001308319:exon27:c.A5213G:p.K1738R,CHD9:NM_001352127:exon27:c.A5213G:p.K1738R,CHD9:NM_001382353:exon27:c.A5213G:p.K1738R,CHD9:NM_025134:exon27:c.A5213G:p.K1738R	.	437	1075	10	0	0	10	0.00462963	.	.	.	3393251	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.455	0.0467989313257	0.0057	0.00199681	0.0027	0.0010	0.0011	0	0.0005	0.0044	0.0033	0.0004	0.0029948	463	154602	rs61754093	0.0053	0.0055	0.0054	0.0052	0.0064	0.0052	0.0052	0.0063	0.0062	0.0010	0.0017	0.0048	2.521e-05	0.0006	0.0050	0.0064	0.0054	0.0005	0.0031	0.0031	0.0035	0.0026	0.0054	0.0028	0.0027	0.0049	0.0047	0.0009	0	0.0014	0.0075	0	0.0006	0	0.0054	0.0014	0.0008	0.013	0.53900	D	0.066	0.60337	T	0.012	0.18235	B	0.007	0.17743	B	0.000550	0.43413	N	0.099352	0.999934	0.51612	D	2.045	0.56016	M	-2.53	0.89430	D	-2.11	0.48020	N	0.4	0.50598	0.172	0.85430	D	0.596	0.85587	D	10	0.01096943	0.00242	T	0.046799	0.62625	D	0.455	0.75415	.	.	0.803993924541	0.80216	0.30745811959884534	0.30658	0.518460528272	0.49701	0.612384557724	0.54653	T	0.098633	0.40916	T	-0.291238	0.09512	T	-0.185147	0.56044	T	0.0384918282354041	0.03420	T	0.916108	0.72323	D	0.10613941	0.25096	0.1230636	0.29680	0.10613941	0.25096	0.1230636	0.29679	-8.649	0.65877	D	.	.	0.144	0.44188	B	.;.;.;.;.;.	.;.;.;.;.;.	3.416413	0.47413	22.5	0.99828816160221878	0.91112	0.99500	0.96782	D	AEFBI	0.698219	0.65596	D	0.170643659475079	0.49794	3.175823	0.280205423275488	0.54384	3.603623	0.998409254875958	0.36906	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.73	4.64	0.57399	6.887000	0.75425	6.929000	0.56953	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9297:0.0:0.0703:0.0	11.428	0.49266	201	0.92177	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.003788	0.07143	1215.44	33	chr16	53287980	.	A	G	1215.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.14;DP=290;ExcessHet=0;FS=0.715;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-0.218;SOR=0.814	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1183	6	0	1	0
chr16	55326341	55326346	GGCGTC	-	exonic	IRX6	.	nonframeshift deletion	IRX6:NM_024335:exon2:c.51_56del:p.A20_S21del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.574e-06	6.568e-06	0	1.346e-05	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	950.79	38	chr16	55326340	.	TGGCGTC	T	950.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.308;DP=208;ExcessHet=0;FS=1.378;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=25.02;ReadPosRankSum=0.668;SOR=1.038	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1170	6	0	1	0
chr16	56474875	56474875	G	A	exonic	OGFOD1	.	nonsynonymous SNV	OGFOD1:NM_001324363:exon10:c.G1219A:p.G407S,OGFOD1:NM_001324357:exon11:c.G1330A:p.G444S,OGFOD1:NM_001324358:exon11:c.G1168A:p.G390S,OGFOD1:NM_001324359:exon11:c.G1042A:p.G348S,OGFOD1:NM_001324360:exon11:c.G1042A:p.G348S,OGFOD1:NM_001324361:exon11:c.G1168A:p.G390S,OGFOD1:NM_001324362:exon11:c.G913A:p.G305S,OGFOD1:NM_018233:exon11:c.G1333A:p.G445S	.	429	1079	14	0	0	14	0.00644567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.030616256178	0.0003	0.000998403	0.0016	9.61e-05	8.643e-05	0.0001	0	0.0004	0	0.0100	0.001313	203	154602	rs201192199	0.0007	0.0007	0.0004	0.0009	0.0083	0.0006	0.0006	0.0078	0.0076	2.988e-05	0.0001	0.0010	0	7.49e-05	0.0035	0.0001	0.0006	0.0083	0.0004	0.0004	0.0003	0.0006	0.0073	0.0003	0.0003	0.0054	0.0047	7.241e-05	0	6.551e-05	0.0009	0.0002	0	0.0034	0.0003	0.0005	0.0073	0.09	0.32769	T	0.083	0.44702	T	1.0	0.90584	D	0.983	0.75793	D	0.000000	0.84330	D	0.042575	1	0.81001	D	3.07	0.87108	M	0.59	0.54540	T	-4.16	0.76740	D	0.59	0.61172	-0.3131	0.74617	T	0.404	0.75444	T	9	0.010893464	0.00241	T	0.030616	0.52889	D	.	.	.	.	0.765059256141	0.76291	0.7638008280963696	0.76328	0.564018394391	0.52809	0.555544734001	0.46638	T	0.370981	0.73542	T	-0.0952216	0.37213	T	0.0971252	0.76718	D	0.152972972280557	0.17338	T	0.881212	0.60266	D	0.44717592	0.63863	0.24130172	0.49525	0.44717592	0.63863	0.24130172	0.49524	-11.038	0.79866	D	.	.	0.187	0.55103	B	.;.	.;.	4.979493	0.82472	27.8	0.99829313550550036	0.91112	0.97839	0.77515	D	AEFBI	0.763273	0.70042	D	0.752781194552767	0.83087	7.926074	0.722701537171452	0.84103	8.199556	0.999996665720699	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.02	6.02	0.97559	7.139000	0.76905	11.895000	0.99196	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.591000	0.31164	0.07:0.0:0.93:0.0	13.7	0.62081	443	0.79878	Oxoglutarate/iron-dependent oxygenase, C-terminal degradation domain;Oxoglutarate/iron-dependent oxygenase, C-terminal degradation domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.018939	0.07143	719.83	35	chr16	56474875	.	G	A	719.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.184;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.89;ReadPosRankSum=0.914;SOR=0.766	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1109	6	0	1	0
chr16	56514532	56514532	T	C	exonic	BBS2	.	nonsynonymous SNV	BBS2:NM_001377456:exon2:c.A266G:p.Y89C,BBS2:NM_031885:exon2:c.A266G:p.Y89C	Bardet-Biedl syndrome 2, Autosomal recessive;Retinitis pigmentosa 74, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	YES	693904	Bardet-Biedl_syndrome|BBS2-related_disorder|not_specified|Bardet-Biedl_syndrome_2	MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:CN239228|MedGen:CN169374|MONDO:MONDO:0014432,MedGen:C2936863,OMIM:615981,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.334	0.0118211698055	.	0.00119808	0.0005	0	0	0	0	0	0.0011	0.0036	0.0004398	68	154602	rs560910758	0.0002	0.0002	0.0001	0.0003	0.0034	0.0002	0.0002	0.0030	0.0029	0	0	0	0	0	0.0005	3.597e-06	0.0002	0.0034	0.0002	0.0002	8.995e-05	0.0002	0.0048	0.0001	8.713e-05	0.0033	0.0028	0	0	0	0	0	0	0	0	0	0.0048	0.181	0.21884	T	0.194	0.28120	T	.	.	.	.	.	.	0.041773	0.23913	N	0.492179	0.99998	0.18612	N	.	.	.	-0.16	0.65378	T	-0.44	0.15782	N	0.724	0.72567	-1.0211	0.23357	T	0.123	0.42568	T	10	0.00826776	0.00187	T	0.011821	0.29821	T	0.334	0.65620	0.376	0.38994	0.364141725642	0.36032	0.6391238036103962	0.63846	0.310774122975	0.33387	0.389987468719	0.23668	T	0.243221	0.61212	T	-0.304766	0.08218	T	-0.212973	0.53412	T	0.0184517551530685	0.00562	T	0.709329	0.31993	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00321	B	.;.	.;.	1.295757	0.16970	12.88	0.9227159883404914	0.21656	0.25352	0.22673	N	AEFDBCI	0.078207	0.15774	N	-0.822142777654499	0.12746	0.6232367	-0.707056244432805	0.16784	0.8895661	0.98899828633278	0.31691	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.4	-0.706	0.10682	0.628000	0.24215	-1.293000	0.05795	-0.203000	0.08628	0.379000	0.25998	0.000000	0.08366	0.975000	0.56047	0.0:0.4543:0.0:0.5457	12.405	0.54770	483	0.77230	Ciliary BBSome complex subunit 2, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	3099.44	34	chr16	56514532	.	T	C	3099.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.43;DP=479;ExcessHet=0;FS=0.428;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-0.645;SOR=0.727	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1280	6	0	1	0
chr16	56971996	56971996	C	A	exonic	CETP	.	nonsynonymous SNV	CETP:NM_000078:exon8:c.C663A:p.S221R,CETP:NM_001286085:exon8:c.C663A:p.S221R	Hyperalphalipoproteinemia, Autosomal dominant	1	1498	23	0	0	23	0.00761842	.	.	.	342010	not_provided|Hyperalphalipoproteinemia_1	MedGen:C3661900|MedGen:C3149462,OMIM:143470	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.641	.	0.0002	0.00479233	0.0031	0.0002	0.0002	0	0	0.0003	0.0055	0.0209	0.0026843	415	154602	rs201438792	0.0015	0.0015	0.0009	0.0021	0.0206	0.0015	0.0015	0.0198	0.0195	8.961e-05	0.0002	0	7.557e-05	0	0.0043	0.0003	0.0013	0.0206	0.0009	0.0009	0.0006	0.0012	0.0224	0.0008	0.0007	0.0190	0.0177	9.625e-05	0	0.0001	0	0	0	0	0.0003	0.0014	0.0224	0.526	0.13654	T	0.502	0.36101	T	0.742	0.43019	P	0.158	0.34617	B	0.875708	0.07204	N	1.060550	1	0.08975	N	0.69	0.16971	N	3.61	0.04446	T	-1.11	0.36980	N	0.45	0.73555	-0.9653	0.38151	T	0.009	0.03271	T	10	0.0046780407	0.00098	T	.	.	.	0.641	0.86333	0.372	0.38340	0.18274738541	0.17906	0.241247330175121	0.24038	0.158616444163	0.17903	0.278875559568	0.07336	T	0.23958	0.60773	T	-0.652579	0.00070	T	-0.694565	0.06128	T	0.00735772075131536	0.00084	T	0.663534	0.38090	T	0.06658967	0.14343	0.07627317	0.16878	0.0822421	0.18937	0.061686095	0.11950	-4.278	0.31318	T	0.457837663697599	0.54053	0.151	0.41280	B	.;.;.	.;.;.	1.936277	0.24595	16.45	0.7118918028489134	0.09545	0.16953	0.19623	N	AEFDGBI	0.167491	0.29417	N	-1.17003362001814	0.05458	0.2488757	-1.17421399311838	0.06343	0.3050421	0.999957556069454	0.48110	0.549168	0.22868	0	0.624146	0.53433	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	3.86	2.89	0.32713	0.771000	0.26294	0.522000	0.19173	-0.368000	0.05462	0.433000	0.26432	0.004000	0.18990	0.268000	0.23719	0.0:0.791:0.0:0.209	9.096	0.35799	716	0.55970	Lipid-binding serum glycoprotein, N-terminal;Lipid-binding serum glycoprotein, N-terminal;Lipid-binding serum glycoprotein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004032	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.022727	0.07143	884.45	34	chr16	56971996	.	C	A	884.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.369;DP=256;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=1.99;SOR=0.667	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1257	6	0	1	0
chr16	57451045	57451045	C	G	exonic	COQ9	.	nonsynonymous SNV	COQ9:NM_020312:exon2:c.C79G:p.R27G	Coenzyme Q10 deficiency, primary, 5, Autosomal recessive	2	1463	55	2	0	59	0.0197655	.	.	.	211720	COQ9-related_disorder|not_provided|Encephalopathy-hypertrophic_cardiomyopathy-renal_tubular_disease_syndrome	.|MedGen:C3661900|MONDO:MONDO:0013840,MedGen:C3553374,OMIM:614654,Orphanet:319678	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.132	.	0.0005	0.000998403	0.0024	0.0002	0.0026	0	0	0.0013	0.0057	0.0105	0.0020246	313	154602	rs140264612	0.0013	0.0013	0.0010	0.0017	0.0197	0.0013	0.0013	0.0167	0.0156	0.0005	0.0019	0.0039	7.557e-05	0	0.0197	0.0006	0.0018	0.0104	0.0009	0.0009	0.0008	0.0010	0.0087	0.0008	0.0007	0.0066	0.0059	9.632e-05	0	0.0006	0.0035	0	0	0.0272	0.0008	0.0038	0.0087	0.014	0.59928	D	0.055	0.57104	T	0.418	0.35279	B	0.065	0.27321	B	0.810299	0.09256	N	0.918676	0.999131	0.21587	N	2.175	0.60977	M	.	.	.	-2.57	0.84742	D	0.537	0.58968	-1.0003	0.29831	T	0.082	0.32207	T	9	0.00896737	0.00203	T	.	.	.	0.132	0.35948	.	.	0.387689773709	0.38380	0.4378721019580951	0.43704	0.259252817373	0.28482	0.535011053085	0.43740	T	0.070879	0.39639	T	-0.344015	0.05115	T	-0.258968	0.48927	T	0.0228780761383594	0.01010	T	0.831017	0.49766	T	0.15947412	0.35821	0.13199598	0.31684	0.1836086	0.39636	0.15318273	0.36006	-3.83	0.21253	T	.	.	0.069	0.12132	B	.;.;.;.;.;.	.;.;.;.;.;.	1.464020	0.18867	13.97	0.98290489573241691	0.39945	0.11866	0.16912	N	AEFBI	0.179999	0.30729	N	-0.324439954419346	0.28222	1.554889	-0.376808982927053	0.25690	1.414323	0.747359427171746	0.23305	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.2	0.861	0.18186	-0.036000	0.12136	-0.108000	0.11862	0.599000	0.40250	0.038000	0.20882	0.000000	0.08366	0.735000	0.35267	0.2708:0.4678:0.0:0.2613	3.775	0.08177	683	0.59664	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.011581	0.000000	0.017663	0.005848	0.000000	0.017241	0.012195	0.011364	0.07143	354.49	35	chr16	57451045	.	C	G	354.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.71;DP=201;ExcessHet=0;FS=1.387;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=0.05;SOR=1.179	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1107	6	0	1	0
chr16	57473436	57473436	G	T	exonic	DOK4	.	nonsynonymous SNV	DOK4:NM_001330556:exon7:c.C1039A:p.L347M,DOK4:NM_001369618:exon8:c.C1039A:p.L347M,DOK4:NM_001369620:exon8:c.C1039A:p.L347M,DOK4:NM_001369621:exon8:c.C922A:p.L308M,DOK4:NM_001369619:exon9:c.C922A:p.L308M,DOK4:NM_018110:exon9:c.C922A:p.L308M	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	0.0556800019752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.99	0.63424	D	0.675	0.53279	P	0.048120	0.23282	N	0.346769	0.610011	0.32613	D	1.39	0.34934	L	-4.32	0.97218	D	-0.4	0.13805	N	0.266	0.31140	0.701	0.93190	D	0.736	0.90983	D	10	0.24643078	0.41908	T	0.05568	0.66325	D	0.369	0.68844	0.254	0.19378	0.996007300407	0.99596	0.11795901811753098	0.11722	1.00121662946	0.74413	0.627547264099	0.56797	T	0.100589	0.40653	T	0.168651	0.70998	D	0.00447931	0.70626	D	0.889444649219513	0.54015	D	0.777022	0.40965	T	0.25077352	0.48082	0.15414909	0.36191	0.25077352	0.48082	0.15414909	0.36190	-4.607	0.32260	T	.	.	0.299	0.52897	B	.;.;.	.;.;.	4.047370	0.59964	24.2	0.99620102251713638	0.75353	0.77380	0.38039	D	AEFGBHCI	0.541116	0.55740	D	0.366176640117766	0.59599	4.140592	0.387916904294834	0.60818	4.273924	0.999999897983726	0.74766	0.722319	0.85440	0	0.552637	0.17590	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	5.4	4.43	0.52967	2.040000	0.40824	5.166000	0.47810	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1619:0.0:0.8381:0.0	10.178	0.42126	626	0.65439	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	604.44	33	chr16	57473436	.	G	T	604.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.684;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.11;SOR=0.584	GT:AD:DP:GQ:PL	0/1:30,25:55:99:615,0,845	6	0	1	0
chr16	57723007	57723007	A	G	exonic	DRC7	.	nonsynonymous SNV	DRC7:NM_001289163:exon10:c.A1219G:p.N407D,DRC7:NM_032269:exon11:c.A1414G:p.N472D,DRC7:NM_001289162:exon12:c.A1414G:p.N472D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00578750605759	.	0.000199681	0.0006	0	0	0	0	0	0.0011	0.0043	0.0004786	74	154602	rs532549050	0.0003	0.0003	0.0002	0.0005	0.0049	0.0003	0.0003	0.0045	0.0044	0	0	0	0	0	0.0002	0	0.0005	0.0049	0.0001	0.0001	2.571e-05	0.0002	0.0041	8.663e-05	7.255e-05	0.0027	0.0023	0	0	0	0	0	0	0	0	0	0.0041	0.471	0.14352	T	0.417	0.14241	T	0.002	0.28678	B	0.002	0.28749	B	0.073035	0.21372	N	0.551359	1	0.08975	N	.	.	.	3.14	0.09542	T	-1.07	0.27876	N	0.157	0.24758	-0.9474	0.41414	T	0.016	0.06425	T	10	0.0039737225	0.00077	T	0.005788	0.15042	T	0.016	0.02506	0.26	0.20315	0.0611884634855	0.05136	0.188981875197907	0.18816	0.196796166778	0.22053	0.312736809254	0.12321	T	0.020022	0.15839	T	-0.699439	0.00037	T	-0.777616	0.02526	T	0.0400965575758768	0.03707	T	0.453455	0.12891	T	0.0752353	0.16936	0.054368503	0.09337	0.0752353	0.16935	0.054368503	0.09336	-2.504	0.11159	T	.	.	0.071	0.06479	B	.;.;.	.;.;.	-0.411950	0.02168	0.212	0.81664775339325035	0.13798	0.03664	0.08924	N	AEFDBI	0.045442	0.07432	N	-1.16808296827633	0.05489	0.2503528	-1.16398767456275	0.06520	0.3141134	0.151144817210888	0.17442	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.4	1.86	0.24489	-0.428000	0.07059	0.360000	0.17566	-0.092000	0.16129	0.000000	0.06391	0.000000	0.08366	0.168000	0.20914	0.5384:0.1733:0.2884:0.0	4.188	0.09869	867	0.32089	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	421.44	34	chr16	57723007	.	A	G	421.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.569;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.069;SOR=0.671	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1188	6	0	1	0
chr16	57813880	57813880	A	G	exonic	LOC388282	.	nonsynonymous SNV	LOC388282:NM_001278081:exon2:c.A295G:p.R99G	.	522	966	32	2	0	36	0.0182927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00778754	.	.	.	.	.	.	.	.	0.0117181	305	26028	rs144914335	0.0143	0.0084	0.0145	0.0140	0.0206	0.0141	0.0140	0.0188	0.0181	0.0014	0.0030	0.0134	0.0006	0.0069	0.0204	0.0144	0.0164	0.0206	0.0088	0.0088	0.0091	0.0084	0.0206	0.0084	0.0082	0.0173	0.0161	0.0019	0.0329	0.0048	0.0115	0.0002	0.0056	0.0103	0.0137	0.0109	0.0206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	439.49	33	chr16	57813880	.	A	G	439.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.862;DP=211;ExcessHet=0;FS=2.944;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-1.201;SOR=0.317	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,999	6	0	1	0
chr16	57815568	57815568	A	C	exonic	LOC388282	.	nonsynonymous SNV	LOC388282:NM_001278081:exon3:c.A441C:p.L147F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0	0	0	0	0	0	0.0019	9.06e-05	14	154602	rs782385203	0.0002	0.0001	7.594e-05	0.0002	0.0020	0.0001	0.0001	0.0017	0.0016	0	0	0	0	0	0.0002	4.344e-06	0.0005	0.0020	4.596e-05	4.593e-05	0	9.4e-05	0.0014	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	433.44	34	chr16	57815568	.	A	C	433.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.91;DP=277;ExcessHet=0;FS=2.19;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.47;ReadPosRankSum=-1.249;SOR=1.034	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,111,1665	6	0	1	0
chr16	58555908	58555908	G	T	exonic	CNOT1	.	stopgain	CNOT1:NM_016284:exon20:c.C2480A:p.S827X,CNOT1:NM_206999:exon20:c.C2480A:p.S827X	.	.	.	.	.	.	.	.	0.9808	0.804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.566	0.06262	T	0.926	0.02814	T	0.05	0.22331	B	0.025	0.20508	B	.	.	.	.	1	0.81001	A	.	.	.	1.0	0.41392	T	-1.02	0.26843	N	0.671	0.67908	-0.9316	0.43903	T	0.172	0.51357	T	7	0.50970435	0.62025	D	0.059766	0.67774	D	.	.	0.513	0.61153	0.716910988392	0.71442	.	.	.	.	.	.	.	.	.	.	0.622132	0.98769	D	0.655873	0.98747	D	0.819239700121785	0.47715	D	0.851115	0.53499	D	.	.	.	.	.	.	.	.	-5.859	0.45085	T	.	.	0.689	0.72515	P	.	.	9.403218	0.98879	41	0.99660645749833687	0.77883	0.99670	0.98521	D	AEFBI	0.963675	0.98564	D	0.625931835728945	0.74820	6.197988	0.689704098322797	0.81595	7.563988	0.999999999999855	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.06	6.06	0.98340	10.003000	0.99689	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	20.640	0.99540	253	0.90069	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	29	chr16	58555908	.	G	T	33.22	.	AC=2;AF=0.143;AN=14;DP=196;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1026	6	1	0	0
chr16	66469836	66469836	G	A	exonic	BEAN1	.	nonsynonymous SNV	BEAN1:NM_001178020:exon3:c.G260A:p.R87H	Spinocerebellar ataxia 31, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3298115	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.007	0.00623791921106	.	.	0.0004	0	0.0054	0	0	0	0	0.0005	3.23e-05	5	154602	rs768531415	4.484e-05	4.446e-05	2.284e-05	6.742e-05	0.0005	3.569e-05	3.24e-05	0.0004	0.0004	0.0001	0	3.976e-05	0	5.893e-05	0	1.113e-05	1.728e-05	0.0005	6.7e-05	6.601e-05	0	0.0001	0.0004	3.582e-05	2.764e-05	9.769e-05	7.11e-05	0.0002	0	0	0	0	0	0	0	0	0.0004	0.449	0.09022	T	0.632	0.07150	T	.	.	.	.	.	.	0.176248	0.03148	N	1.723860	1	0.08975	N	0	0.06538	N	1.86	0.24285	T	-0.1	0.08495	N	0.128	0.12198	-1.0453	0.15738	T	0.023	0.09650	T	8	0.006535977	0.00148	T	0.006238	0.16376	T	0.007	0.00512	.	.	0.0297737177859	0.01360	0.08198183253524222	0.08133	.	.	0.268166601658	0.05903	T	0.007068	0.06489	T	-0.540488	0.00333	T	-0.669212	0.07660	T	0.0212077721953392	0.00822	T	0.483352	0.14674	T	0.020880004	0.00664	0.024562208	0.00478	0.020880004	0.00664	0.024562208	0.00478	-3.242	0.13000	T	.	.	0.061	0.01109	B	.	.	-0.200067	0.03089	0.486	0.88055832199260886	0.17683	0.00513	0.02400	N	AEFDGBI	0.045143	0.07349	N	-1.46382106944443	0.02110	0.09284697	-1.61904235247931	0.01544	0.06993914	0.99983438933382	0.43792	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.2	-8.39	0.00847	-0.948000	0.04007	-1.223000	0.05981	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.185000	0.21450	0.5494:0.1158:0.2175:0.1173	3.501	0.07234	437	0.80299	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	901.63	42	chr16	66469836	.	G	A	901.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.926;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.78;ReadPosRankSum=-0.605;SOR=0.719	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1257	6	0	1	0
chr16	66730161	66730161	T	A	exonic	DYNC1LI2	.	nonsynonymous SNV	DYNC1LI2:NM_001286157:exon7:c.A761T:p.K254M,DYNC1LI2:NM_001323955:exon7:c.A875T:p.K292M,DYNC1LI2:NM_006141:exon8:c.A992T:p.K331M	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.0282953865049	.	.	3.303e-05	0	0	0	0	6.005e-05	0	0	2.59e-05	4	154602	rs754383868	1.779e-05	1.779e-05	1.634e-05	1.925e-05	2.987e-05	1.237e-05	1.051e-05	7.31e-06	5.72e-06	2.987e-05	0	0.0003	0	0	0	1.259e-05	4.968e-05	1.16e-05	3.942e-05	3.94e-05	2.569e-05	5.379e-05	2.94e-05	1.715e-05	1.129e-05	4.88e-06	1.83e-06	0	0	0	0.0009	0	0	0	2.94e-05	0.0005	0	0.001	0.78490	D	0.009	0.76473	D	0.996	0.68779	D	0.967	0.71530	D	0.000002	0.62929	D	0.133902	0.999954	0.81001	D	2.26	0.64354	M	1.76	0.25996	T	-4.22	0.76254	D	0.446	0.50418	-0.7767	0.56487	T	0.170	0.51149	T	10	0.30259448	0.47795	T	0.028295	0.50995	D	0.282	0.59981	.	.	0.311241185304	0.30733	0.6177725307688289	0.61710	1.56040649893	0.88029	0.646061718464	0.59425	T	0.155432	0.49716	T	-0.0986371	0.36653	T	-0.315816	0.43031	T	0.907461643218994	0.56176	D	0.948405	0.89869	D	0.48950958	0.66473	0.36006206	0.61455	0.48950958	0.66474	0.36006206	0.61454	-11.836	0.84042	D	.	.	0.342	0.62975	A	.;.;.	.;.;.	4.821418	0.78539	26.9	0.9965353980043502	0.77442	0.92173	0.55108	D	AEFBCI	0.605022	0.59589	D	0.686584917617797	0.78753	6.935625	0.647724898944666	0.78442	6.87697	0.999995680105314	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.2	5.2	0.71720	4.065000	0.57229	7.894000	0.73204	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.219	0.72990	180	0.92993	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	614.44	27	chr16	66730161	.	T	A	614.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.24;DP=234;ExcessHet=0;FS=2.151;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=0.231;SOR=1.088	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1193	6	0	1	0
chr16	66755044	66755044	G	A	exonic	TERB1	.	nonsynonymous SNV	TERB1:NM_001136505:exon19:c.C2116T:p.R706W	.	431	1070	21	0	0	21	0.00971772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0990114348706	.	0.00139776	0.0020	0	0.0024	0	0	0.0016	0	0.0030	0.0003687	57	154602	rs200191895	0.0009	0.0008	0.0008	0.0010	0.0035	0.0008	0.0008	0.0031	0.0030	0.0001	0.0011	0.0025	0	0.0001	0.0033	0.0007	0.0013	0.0035	0.0008	0.0008	0.0008	0.0007	0.0027	0.0007	0.0006	0.0016	0.0013	0.0002	0	0.0015	0.0017	0.0004	0.0002	0	0.0009	0.0028	0.0027	.	.	.	0.0	0.92824	D	0.804	0.45171	P	0.244	0.38795	B	.	.	.	.	0.945505	0.81001	D	2.65	0.77586	M	-0.01	0.62762	T	.	.	.	0.915	0.91736	-0.7112	0.59893	T	0.196	0.55100	T	9	0.063039124	0.08152	T	0.099011	0.77036	D	0.340	0.66202	.	.	0.632468194898	0.62945	0.8632737748027692	0.86291	.	.	0.436707556248	0.30127	T	0.046743	0.27515	T	-0.144685	0.29145	T	0.0169721	0.71435	D	0.0380087372379942	0.03334	T	0.906209	0.66975	D	0.12773815	0.29883	0.19236793	0.42747	0.12773815	0.29883	0.19236793	0.42746	-13.416	0.91004	D	.	.	0.558	0.67132	A	.;.	.;.	3.666294	0.52110	23.2	0.9401128398898142	0.24113	0.41925	0.26765	N	AEFDBHCI	0.372404	0.45806	N	0.109644642783173	0.46912	2.924414	0.10288310517962	0.44696	2.746361	0.999644148923686	0.41316	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.76	0.895	0.18380	0.258000	0.18156	2.010000	0.30161	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.929000	0.46594	0.084:0.0:0.2612:0.6547	8.173	0.30425	67	0.97183	SANT/Myb domain|SANT/Myb domain;SANT/Myb domain|SANT/Myb domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003030	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.000000	0.08333	389.27	20	chr16	66755044	.	G	A	389.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.731;DP=178;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.65;ReadPosRankSum=-0.057;SOR=0.628	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,953	5	0	1	1
chr16	66885164	66885164	-	A	exonic	PDP2	.	frameshift insertion	PDP2:NM_001329929:exon2:c.881dupA:p.E295Rfs*14,PDP2:NM_001329930:exon2:c.881dupA:p.E295Rfs*14,PDP2:NM_001329931:exon2:c.881dupA:p.E295Rfs*14,PDP2:NM_001329934:exon2:c.881dupA:p.E295Rfs*14,PDP2:NM_020786:exon2:c.881dupA:p.E295Rfs*14,PDP2:NM_001329928:exon3:c.881dupA:p.E295Rfs*14,PDP2:NM_001329932:exon3:c.881dupA:p.E295Rfs*14,PDP2:NM_001329933:exon3:c.881dupA:p.E295Rfs*14	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	104.4	33	chr16	66885164	.	C	CA	104.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.559;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=0.819;SOR=0.446	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1130	6	0	1	0
chr16	66925060	66925060	C	T	exonic	RRAD	.	nonsynonymous SNV	RRAD:NM_001128850:exon2:c.G120A:p.M40I,RRAD:NM_004165:exon2:c.G120A:p.M40I	.	444	1069	9	0	0	9	0.0041919	.	.	.	2343267	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.065	0.215254888953	.	.	0.0008	0	0	0	0	0	0	0.0010	2.59e-05	4	154602	rs764978814	0.0001	0.0001	7.734e-05	0.0001	0.0013	8.913e-05	8.34e-05	0.0008	0.0007	0	0	0	0	0	0.0013	7.723e-05	4.31e-05	0.0010	5.92e-05	5.91e-05	5.144e-05	6.732e-05	0.0004	3.08e-05	2.212e-05	7.279e-05	3.341e-05	0	0	0	0	0	0	0	0.0001	0	0.0004	0.502	0.07695	T	0.602	0.07894	T	0.001	0.07471	B	0.002	0.06944	B	0.000000	0.84330	D	0.078689	0.999948	0.51968	D	1.79	0.46772	L	-0.08	0.63911	T	-1.14	0.29323	N	0.558	0.58883	-0.9840	0.34069	T	0.145	0.46895	T	10	0.07116127	0.10452	T	0.215255	0.87499	D	0.065	0.18881	0.319	0.29741	0.641759411539	0.63880	0.41515920431293374	0.41431	1.64548930497	0.89442	0.924835085869	0.98669	D	0.188929	0.54299	T	-0.362877	0.03970	T	-0.329403	0.41535	T	0.16455699552915	0.18202	T	0.759024	0.38317	T	0.5474054	0.69811	0.52511954	0.72564	0.5474054	0.69812	0.52511954	0.72564	-3.566	0.17367	T	.	.	0.802	0.77371	P	.;.	.;.	4.142923	0.62090	24.4	0.99223456643504737	0.55963	0.91496	0.53653	D	ALL	0.850498	0.76733	D	-0.387566083621317	0.25910	1.41015	-0.223929567258161	0.30681	1.729565	0.999999999997258	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.38	3.42	0.38259	6.260000	0.72463	7.459000	0.59036	-0.390000	0.05348	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.1454:0.7144:0.1402:0.0	10.909	0.46307	113	0.95418	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	88.27	9	chr16	66925060	.	C	T	88.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1;DP=141;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=-0.464;SOR=0.495	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1082	5	0	1	1
chr16	66932825	66932825	T	G	exonic	CIAO2B	.	nonsynonymous SNV	CIAO2B:NM_016062:exon4:c.A349C:p.M117L	.	426	1095	1	0	0	1	0.000456413	0.0025	0.046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs764830209	6.85e-07	2.052e-06	0	1.378e-06	2.249e-05	0	0	.	.	0	2.249e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.33923	T	0.308	0.21812	T	0.0	0.02946	B	0.002	0.06944	B	0.000000	0.84330	D	0.085006	0.996731	0.43384	D	.	.	.	.	.	.	-0.07	0.08033	N	0.338	0.37923	-1.1025	0.03801	T	0.030	0.12717	T	9	0.12833011	0.24411	T	0.00604	0.15787	T	0.130	0.35528	0.465	0.53566	0.0762999501168	0.06990	0.33205141068686805	0.33118	0.439521257904	0.43982	0.710497200489	0.68665	T	0.010877	0.09774	T	-0.137766	0.30247	T	-0.352802	0.38884	T	0.233899886766414	0.22136	T	0.879712	0.59601	D	0.14767073	0.33747	0.16940257	0.38972	0.14767073	0.33746	0.16940257	0.38971	-1.355	0.01492	T	.	.	0.115	0.22861	B	.;.	.;.	2.524018	0.32617	19.10	0.90870244965352887	0.20119	0.76134	0.37317	D	AEFDBCI	0.358383	0.44908	N	-0.685894696881172	0.16423	0.8365953	-0.423694352452711	0.24304	1.330151	0.999918543994287	0.45857	0.706298	0.61202	0	0.685571	0.66316	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.25	2.97	0.33479	0.926000	0.28405	5.068000	0.47151	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0773:0.3069:0.6157	6.424	0.20963	123	0.95099	MIP18 family-like;MIP18 family-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	762.46	73	chr16	66932825	.	T	G	762.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.148;DP=250;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-1.913;SOR=0.767	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1243	6	0	1	0
chr16	66963826	66963826	G	A	exonic	CES3	.	nonsynonymous SNV	CES3:NM_001185177:exon4:c.G451A:p.A151T,CES3:NM_024922:exon4:c.G451A:p.A151T	.	416	1104	1	1	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.00176573354162	0.0024	0.00239617	0.0008	0.0088	8.646e-05	0	0	0.0001	0	0.0001	0.0007891	122	154602	rs71647891	0.0002	0.0002	0.0003	0.0002	0.0076	0.0002	0.0002	0.0069	0.0066	0.0076	0.0002	0	0	0	0.0002	2.878e-05	0.0004	0.0001	0.0025	0.0025	0.0026	0.0023	0.0084	0.0022	0.0022	0.0076	0.0074	0.0084	0	0.0012	0	0	0	0	5.88e-05	0.0014	0	0.018	0.51248	D	0.021	0.59732	D	0.88	0.48402	P	0.523	0.48316	P	0.503288	0.05105	N	1.361980	1	0.08975	N	2.41	0.69639	M	2.83	0.10771	T	-1.46	0.35792	N	0.171	0.18512	-0.9485	0.41228	T	0.030	0.12804	T	10	0.012755394	0.00273	T	0.001766	0.02986	T	0.139	0.37390	.	.	0.0716867268079	0.06686	0.5460331529942924	0.54529	0.214751900382	0.24013	0.410781294107	0.26565	T	0.445367	0.78841	T	-0.671562	0.00054	T	-0.730748	0.04294	T	0.0455777255682054	0.04708	T	0.654835	0.26514	T	0.052859984	0.09920	0.08478185	0.19529	0.052859984	0.09919	0.08478185	0.19528	-6.314	0.48832	T	.	.	0.252	0.48685	B	.;.	.;.	-0.602425	0.01566	0.103	0.73973674120576327	0.10523	0.06646	0.12664	N	AEFBI	0.080356	0.16245	N	-1.10829823830724	0.06495	0.2991298	-1.39995205096867	0.03253	0.1513693	0.999993152770629	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.32	-8.0	0.00995	-2.098000	0.01435	-8.245000	0.01002	-3.299000	0.00098	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.187:0.0:0.6695:0.1435	13.860	0.63052	151	0.94052	Carboxylesterase, type B;Carboxylesterase, type B	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1385.53	36	chr16	66963826	.	G	A	1385.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.644;DP=271;ExcessHet=0;FS=5.899;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.11;ReadPosRankSum=1.13;SOR=0.306	GT:AD:DP:GQ:PL	0/1:31,55:86:99:1396,0,679	6	0	1	0
chr16	67155474	67155474	G	A	exonic	TRADD	.	nonsynonymous SNV	TRADD:NM_001323552:exon3:c.C332T:p.S111L,TRADD:NM_003789:exon3:c.C332T:p.S111L	.	425	1087	10	0	0	10	0.00457875	.	.	.	2796864	TRADD-related_disorder	.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.043	0.0070462457776	.	0.000399361	0.0015	0	0.0007	0	0	0.0021	0.0021	0.0013	0.0008473	131	154602	rs201869508	0.0012	0.0011	0.0011	0.0013	0.0013	0.0011	0.0011	0.0012	0.0012	0.0003	0.0005	0.0002	0	0.0009	0.0012	0.0013	0.0011	0.0011	0.0011	0.0011	0.0011	0.0011	0.0020	0.0010	0.0009	0.0017	0.0016	0.0002	0	0.0007	0	0	0.0009	0	0.0020	0.0014	0	0.23	0.18308	T	0.329	0.18789	T	0.02	0.18235	B	0.003	0.08700	B	0.368333	0.13566	N	0.736603	1	0.08975	N	1.8	0.47472	L	.	.	.	-1.23	0.31170	N	0.183	0.19861	-1.0389	0.17648	T	0.070	0.28609	T	9	0.007817358	0.00177	T	0.007046	0.18676	T	0.043	0.11576	.	.	0.102598925029	0.09809	0.20950885522960405	0.20866	0.680249482068	0.59982	0.653772592545	0.60521	T	0.160002	0.50368	T	-0.492387	0.00631	T	-0.484047	0.24017	T	0.00383704534073145	0.00041	T	0.671933	0.28057	T	0.056588966	0.11155	0.034864884	0.02630	0.056588966	0.11154	0.034864884	0.02630	-3.674	0.18935	T	.	.	0.109	0.24934	B	.;.	.;.	2.102246	0.26750	17.23	0.75111125111681099	0.10949	0.01043	0.03895	N	ALL	0.079436	0.16045	N	-1.03109089541112	0.07963	0.3717705	-1.03529601119312	0.09016	0.4462508	0.999999999999999	0.74766	0.789315	0.99827	0	0.768056	0.99558	0	0.666236	0.60216	0	0.48735	0.07195	2	.	.	5.0	1.8	0.24069	1.163000	0.31408	2.644000	0.33772	-0.165000	0.11486	0.074000	0.22182	0.110000	0.22784	0.000000	0.00833	0.0847:0.3013:0.614:0.0	8.055	0.29759	48	0.97687	TRADD, N-terminal|TRADD, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003546	0.000000	0.005450	0.000000	0.000000	0.000000	0.009259	0.000000	0.07143	797.49	35	chr16	67155474	.	G	A	797.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.623;DP=260;ExcessHet=0;FS=0.951;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=2;SOR=0.904	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,100,1078	6	0	1	0
chr16	67167824	67167824	C	G	exonic	HSF4	.	nonsynonymous SNV	HSF4:NM_001374674:exon9:c.C869G:p.A290G,HSF4:NM_001374675:exon9:c.C959G:p.A320G,HSF4:NM_001040667:exon11:c.C959G:p.A320G,HSF4:NM_001538:exon11:c.C869G:p.A290G	Cataract 5, multiple types, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	YES	491267	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.0084692395779	.	.	8.425e-05	0	0.0002	0	0	0.0001	0	0	3.84e-05	1	26028	rs773707270	3.261e-05	3.215e-05	2.619e-05	3.912e-05	0.0007	2.513e-05	2.252e-05	0.0002	0.0001	0	7.221e-05	0.0009	0	0	0.0007	1.179e-05	8.4e-05	0	3.284e-05	3.281e-05	3.855e-05	2.687e-05	0.0002	1.26e-05	7.98e-06	.	.	0	0	0	0.0012	0	0	0	0	0	0.0002	0.134	0.26300	T	0.322	0.32040	T	0.155	0.41275	B	0.042	0.32896	B	0.001336	0.39379	N	0.211161	0.541437	0.33280	D	.	.	.	.	.	.	-0.77	0.21429	N	0.183	0.21580	-0.8237	0.53702	T	0.150	0.47681	T	8	0.06479764	0.08647	T	0.008469	0.22407	T	0.022	0.04323	0.316	0.29258	0.550005317886	0.54656	0.226338257423765	0.22548	.	.	0.495456784964	0.38195	T	0.157101	0.49955	T	-0.265733	0.12236	T	-0.436715	0.29176	T	0.167630583047867	0.18418	T	0.767123	0.39533	T	0.09376176	0.22030	0.11313132	0.27300	0.09376176	0.22029	0.11313132	0.27300	-3.682	0.19052	T	0.18263185100397786	0.23605	0.143	0.31355	B	.;.	.;.	3.651315	0.51821	23.2	0.98846165239060169	0.47203	0.86958	0.46359	D	AEFGBI	0.521256	0.54577	D	0.108053863768287	0.46839	2.918151	0.159290792854068	0.47637	2.990898	0.992037892875454	0.32696	0.625279	0.40028	0	0.60822	0.50512	0	0.596491	0.31596	0	0.616125	0.45549	0	.	.	5.51	3.45	0.38602	2.887000	0.48284	4.107000	0.41897	0.596000	0.33519	0.996000	0.39380	0.999000	0.35428	0.999000	0.91618	0.3166:0.53:0.1534:0.0	8.312	0.31238	46	0.97728	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	725.45	39	chr16	67167824	.	C	G	725.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.848;DP=255;ExcessHet=0;FS=0.946;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-2.087;SOR=0.518	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1246	6	0	1	0
chr16	67175090	67175090	C	G	exonic	NOL3	.	nonsynonymous SNV	NOL3:NM_001185057:exon4:c.C653G:p.A218G,NOL3:NM_001276311:exon4:c.C539G:p.A180G	Myoclonus, familial cortical, Autosomal dominant	7	1439	71	5	0	81	0.0273741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.00239617	0.0037	0.0002	0.0008	0	0	0.0016	0.0045	0.0199	0.0031888	493	154602	rs201000974	0.0021	0.0021	0.0014	0.0027	0.0220	0.0020	0.0020	0.0212	0.0209	0.0001	0.0006	0.0117	2.519e-05	0	0.0140	0.0005	0.0027	0.0220	0.0013	0.0013	0.0010	0.0017	0.0197	0.0012	0.0011	0.0165	0.0153	2.404e-05	0	0.0016	0.0104	0	0	0.0068	0.0006	0.0024	0.0197	0.394	0.10694	T	0.417	0.14241	T	.	.	.	.	.	.	.	.	.	.	1	0.18612	N	0	0.06538	N	.	.	.	-1.07	0.27876	N	0.052	0.02366	.	.	.	.	.	.	.	0.0031780005	0.00053	T	.	.	.	.	.	.	.	0.404315859256	0.40048	.	.	0.426604590348	0.43034	0.291245102882	0.09104	T	.	.	.	-0.513528	0.00479	T	-0.494168	0.22954	T	.	.	.	0.264874	0.04312	T	.	.	.	.	.	.	.	.	-3.213	0.12640	T	.	.	0.087	0.11124	B	.	.	1.441142	0.18608	13.83	0.66975076403872813	0.08217	0.10998	0.16338	N	AEFDGBHCI	0.103023	0.20652	N	.	.	.	.	.	.	0.999999942656462	0.74766	0.676563	0.55306	0	0.627608	0.54475	0	0.673471	0.61138	0	0.665054	0.64577	0	.	.	3.68	2.72	0.31179	0.395000	0.20576	0.209000	0.15940	-0.240000	0.07525	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.0:0.7805:0.2195:0.0	9.296	0.36978	45	0.97767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.005051	0.006793	0.000000	0.050000	0.008621	0.012195	0.037879	0.07143	1701.44	36	chr16	67175090	.	C	G	1701.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.64;DP=388;ExcessHet=0;FS=1.134;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.82;ReadPosRankSum=-0.167;SOR=0.79	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1220	6	0	1	0
chr16	67228398	67228398	C	G	exonic	TMEM208	.	nonsynonymous SNV	TMEM208:NM_014187:exon3:c.C146G:p.A49G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.0137786039362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	1.437e-05	0	1.375e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.12632	T	0.342	0.17910	T	0.679	0.41373	P	0.136	0.33270	B	0.000340	0.45700	D	0.193031	0.994158	0.81001	D	1.7	0.43825	L	1.52	0.30669	T	-1.76	0.42191	N	0.539	0.58287	-1.0958	0.04639	T	0.060	0.25237	T	10	0.29794908	0.47354	T	0.013779	0.33440	T	0.079	0.23065	0.457	0.52265	0.0762999501168	0.06990	0.5849071720731794	0.58420	0.288640209993	0.31269	0.727495908737	0.71140	T	0.060991	0.31535	T	-0.105032	0.35590	T	-0.388647	0.34711	T	0.644348740577698	0.38221	D	0.905209	0.66592	D	0.18404564	0.39701	0.18685585	0.41883	0.18404564	0.39700	0.18685585	0.41883	-4.656	0.32867	T	.	.	0.144	0.35951	B	.;.	.;.	3.123735	0.42181	21.5	0.97918489311336776	0.36864	0.96631	0.70114	D	AEFGBHCI	0.849400	0.76622	D	0.248460247980296	0.53561	3.524604	0.366247796533668	0.59493	4.127561	0.99999999987856	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.606735	0.37207	0	0.735409	0.98432	0	.	.	5.39	5.39	0.77615	4.879000	0.62792	5.972000	0.52016	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.888	0.79052	25	0.98345	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	163.93	54	chr16	67228398	.	C	G	163.93	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.712;DP=437;ExcessHet=0.4139;FS=181.339;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.26;ReadPosRankSum=0.997;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:73,14:87:25:0|1:67228398_C_G:0,25,2165:67228398	4	0	2	1
chr16	67230643	67230643	C	T	exonic	FHOD1	.	nonsynonymous SNV	FHOD1:NM_013241:exon18:c.G2816A:p.R939H,FHOD1:NM_001318202:exon20:c.G2894A:p.R965H	.	408	1102	11	1	0	13	0.00586378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0233043675025	0.0004	.	0.0004	9.63e-05	0	0.0001	0.0002	0.0006	0.0011	0.0002	0.0003105	48	154602	rs143903337	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0005	0.0003	2.987e-05	4.473e-05	0	7.557e-05	0.0003	0.0010	0.0003	0.0003	8.115e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	0.0001	0	0.0001	0	0.0002	0.0002	0	0.0003	0	0	0.028	0.46129	D	0.002	0.79402	D	0.989	0.62824	D	0.88	0.62516	P	0.000000	0.84330	D	0.046268	1	0.81001	D	1.92	0.51302	L	2.22	0.18248	T	-4.68	0.79659	D	0.776	0.77319	-1.0627	0.11093	T	0.093	0.35255	T	10	0.6406512	0.69037	D	0.023304	0.46264	T	0.252	0.56159	.	.	0.627983267216	0.62494	0.37440061916774314	0.37354	0.884896445063	0.69936	0.701537489891	0.67365	T	0.250693	0.62082	T	-0.209718	0.19419	T	-0.18959	0.55628	T	0.256587415933609	0.23165	T	0.889211	0.62120	D	0.4180808	0.61963	0.20607339	0.44805	0.4180808	0.61964	0.20607339	0.44804	-10.088	0.74437	D	.	.	0.159	0.35225	B	.	.	5.062681	0.84388	28.3	0.99940638616085653	0.99767	0.97529	0.75344	D	AEFBHCI	0.489738	0.52752	N	0.572778306094889	0.71478	5.65714	0.541929229057629	0.70837	5.564378	0.999968252037668	0.48965	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.61	4.66	0.57857	3.881000	0.55866	7.647000	0.63496	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.0:0.8375:0.0:0.1625	9.369	0.37404	25	0.98345	Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.003788	0.07143	1787.44	35	chr16	67230643	.	C	T	1787.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.031;DP=340;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-1.906;SOR=0.653	GT:AD:DP:GQ:PL	0/1:81,73:154:99:1798,0,2093	6	0	1	0
chr16	67236630	67236630	C	A	exonic	FHOD1	.	nonsynonymous SNV	FHOD1:NM_001318202:exon11:c.G1246T:p.A416S,FHOD1:NM_013241:exon11:c.G1246T:p.A416S	.	.	.	.	.	.	.	.	.	.	.	2217942	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.009	0.00639054640095	.	0.000199681	0.0002	0	0.0002	0	0	0.0002	0	0.0007	0.0001746	27	154602	rs201882646	0.0002	0.0002	0.0002	0.0003	0.0009	0.0002	0.0002	0.0007	0.0007	0	0.0003	0	0	0	0.0003	0.0002	0.0002	0.0009	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0001	0.0005	0.0004	2.408e-05	0	0.0009	0	0	9.434e-05	0	0.0003	0.0005	0	0.427	0.09629	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.894497	0.07316	N	1.060180	1	0.18198	N	-0.77	0.01674	N	2.09	0.20122	T	1.54	0.00702	N	0.096	0.07673	-0.9619	0.38819	T	0.018	0.07612	T	10	0.011076063	0.00244	T	0.006391	0.16812	T	0.009	0.00846	.	.	0.349870743963	0.34602	0.24766320004743847	0.24680	0.186915878189	0.21002	0.300027489662	0.10404	T	0.01204	0.10647	T	-0.627097	0.00100	T	-0.762713	0.03016	T	0.0125355755438406	0.00208	T	0.582642	0.21138	T	0.03549556	0.04190	0.038521837	0.03738	0.03549556	0.04190	0.038521837	0.03738	-3.454	0.15794	T	.	.	0.068	0.02765	B	.	.	-0.489089	0.01902	0.158	0.81386117080882459	0.13660	0.05030	0.10813	N	ALL	0.044317	0.07114	N	-1.43311547946713	0.02353	0.103803	-1.39040051426261	0.03354	0.1562548	0.999999580006043	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.693117	0.63056	0	0.741806	0.99463	0	.	.	4.73	-0.57	0.11164	-0.667000	0.05374	-0.043000	0.12644	-0.332000	0.05765	0.000000	0.06391	0.007000	0.19602	0.008000	0.08271	0.1807:0.4845:0.0:0.3348	4.592	0.11706	25	0.98345	Rho GTPase-binding/formin homology 3 (GBD/FH3) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1079.44	34	chr16	67236630	.	C	A	1079.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.322;DP=286;ExcessHet=0;FS=1.715;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.454;SOR=0.517	GT:AD:DP:GQ:PL	0/1:46,48:94:99:1090,0,1113	6	0	1	0
chr16	67270751	67270751	G	A	exonic	SLC9A5	.	nonsynonymous SNV	SLC9A5:NM_001323971:exon13:c.G1856A:p.C619Y	.	429	1056	36	1	0	38	0.0176744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0070	0.00638978	0.0115	0.0021	0.0024	0.0003	0.0062	0.0102	0.0185	0.0424	0.0083117	1285	154602	rs143000650	0.0093	0.0093	0.0087	0.0099	0.0264	0.0092	0.0091	0.0255	0.0251	0.0010	0.0023	0.0050	7.591e-05	0.0045	0.0118	0.0092	0.0088	0.0264	0.0056	0.0056	0.0055	0.0056	0.0243	0.0053	0.0051	0.0207	0.0194	0.0014	0.0033	0.0027	0.0035	0.0004	0.0024	0	0.0086	0.0024	0.0243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012085	0.025253	0.005435	0.005848	0.000000	0.008621	0.018293	0.022727	0.07143	583.49	38	chr16	67270751	.	G	A	583.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.779;DP=214;ExcessHet=0;FS=3.227;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=1.22;SOR=0.316	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1289	6	0	1	0
chr16	67304454	67304454	A	T	exonic	KCTD19	.	nonsynonymous SNV	KCTD19:NM_001100915:exon3:c.T418A:p.S140T	.	424	1061	36	1	0	38	0.0175926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	.	0.0071	0.00658946	0.0087	0.0015	0.0018	0.0002	0.0047	0.0079	0.0144	0.0270	0.0084216	1302	154602	rs143573730	0.0094	0.0094	0.0087	0.0100	0.0266	0.0092	0.0092	0.0257	0.0253	0.0010	0.0023	0.0050	7.557e-05	0.0046	0.0123	0.0092	0.0088	0.0266	0.0056	0.0056	0.0056	0.0056	0.0245	0.0053	0.0052	0.0209	0.0195	0.0014	0.0033	0.0027	0.0035	0.0004	0.0023	0	0.0087	0.0024	0.0245	0.007	0.59928	D	0.111	0.37173	T	0.985	0.61118	D	0.542	0.48916	P	0.001385	0.39175	N	0.116318	0.921889	0.27273	N	0.895	0.22405	L	0.14	0.60854	T	-0.65	0.18877	N	0.375	0.41656	-0.8979	0.48205	T	0.114	0.40513	T	10	0.006156385	0.00139	T	.	.	.	0.182	0.45420	.	.	0.78800085046	0.78603	0.7784897433197607	0.77798	0.837338821554	0.67864	0.76940703392	0.77336	T	0.019758	0.15682	T	-0.426939	0.01547	T	-0.365095	0.37462	T	0.0246198427217777	0.01224	T	0.688231	0.29741	T	0.16197774	0.36243	0.16115986	0.37501	0.15422364	0.34918	0.16115986	0.37500	-3.83	0.21253	T	.	.	0.108	0.20313	B	.	.	3.664333	0.52068	23.2	0.99360921978537375	0.60987	0.93602	0.58667	D	AEFBI	0.485667	0.52516	N	0.31610546893752	0.56975	3.863271	0.390190990393839	0.60959	4.289605	0.999997023525818	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.87	5.87	0.94266	2.614000	0.46024	11.312000	0.92460	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	1.0:0.0:0.0:0.0	13.629	0.61651	34	0.98095	.	PLEKHG4|PLEKHG4|SLC7A6	Brain_Cerebellum|Brain_Cortex|Thyroid	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010628	0.015464	0.004076	0.005882	0.000000	0.008621	0.021605	0.022901	0.07143	473.49	59	chr16	67304454	.	A	T	473.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.639;DP=241;ExcessHet=0;FS=1.07;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=-0.317;SOR=0.475	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1181	6	0	1	0
chr16	67401044	67401044	C	T	exonic	ZDHHC1	.	nonsynonymous SNV	ZDHHC1:NM_001323627:exon4:c.G341A:p.S114N,ZDHHC1:NM_013304:exon4:c.G341A:p.S114N	.	421	1092	9	0	0	9	0.00410397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.0110000264414	0.0011	0.000399361	0.0012	0	0.0005	0	0.0003	0.0019	0.0011	0.0010	0.0011513	178	154602	rs139962485	0.0013	0.0013	0.0012	0.0014	0.0015	0.0013	0.0012	0.0014	0.0014	0.0002	0.0006	0.0011	0	0.0007	0.0012	0.0015	0.0012	0.0011	0.0012	0.0012	0.0012	0.0012	0.0021	0.0011	0.0010	0.0018	0.0017	0.0002	0	0.0008	0.0014	0	0.0008	0.0034	0.0021	0.0014	0.0002	0.24	0.17701	T	0.78	0.04330	T	0.4	0.34852	B	0.191	0.36391	B	0.000398	0.44960	N	0.200137	0.988828	0.40835	D	0.135	0.08676	N	1.17	0.37910	T	0.67	0.02263	N	0.151	0.15469	-1.0854	0.06335	T	0.046	0.19800	T	10	0.012678176	0.00272	T	0.011	0.28166	T	0.036	0.09122	.	.	0.0138822411134	0.00435	0.588301112371834	0.58760	0.170231762195	0.19195	0.549704968929	0.45817	T	0.007891	0.07266	T	-0.583389	0.00184	T	-0.614765	0.11601	T	0.0121304225246354	0.00193	T	0.788221	0.42759	T	0.07843319	0.17860	0.07516831	0.16522	0.07843319	0.17859	0.07516831	0.16521	-3.469	0.16000	T	.	.	0.082	0.15251	B	.;.	.;.	2.093792	0.26636	17.19	0.99220569405259773	0.55901	0.75867	0.37169	D	AEFBHI	0.216164	0.34144	N	-0.312823284813694	0.28660	1.58268	-0.167388111980657	0.32744	1.865982	0.999948233524905	0.47345	0.634777	0.41761	0	0.588066	0.40923	0	0.645312	0.48771	0	0.645665	0.59343	0	.	.	6.06	4.12	0.47504	1.838000	0.38851	5.982000	0.52185	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.266000	0.23669	0.0:0.7655:0.0:0.2345	9.548	0.38458	20	0.98525	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	1207.44	34	chr16	67401044	.	C	T	1207.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.271;DP=325;ExcessHet=0;FS=2.248;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.94;ReadPosRankSum=0.663;SOR=0.498	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1218	6	0	1	0
chr16	67814372	67814372	C	T	exonic	TSNAXIP1	.	nonsynonymous SNV	TSNAXIP1:NM_001288990:exon2:c.C118T:p.R40C,TSNAXIP1:NM_001288991:exon2:c.C118T:p.R40C,TSNAXIP1:NM_001351158:exon2:c.C188T:p.S63L	.	423	1063	34	2	0	38	0.0175601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	0.00259585	0.0109	0.0072	0.0054	0	0	0.0075	0.0076	0.0133	0.001119	173	154602	rs548824636	0.0018	0.0017	0.0014	0.0023	0.0144	0.0018	0.0018	0.0137	0.0134	0.0002	0.0009	0.0116	5.597e-05	0	0.0135	0.0008	0.0027	0.0144	0.0014	0.0014	0.0011	0.0017	0.0130	0.0012	0.0012	0.0105	0.0095	0.0002	0	0.0007	0.0110	0	0	0.0102	0.0012	0.0024	0.0130	0.003	0.72154	D	0.012	0.79402	D	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-1.65	0.58085	N	0.128	0.12198	-1.0072	0.27789	T	0.066	0.27087	T	7	0.0036321282	0.00066	T	.	.	.	0.031	0.07369	0.243	0.17677	0.107399877778	0.10242	0.27228320694232	0.27141	.	.	.	.	.	.	.	.	-0.636742	0.00087	T	-0.675088	0.07286	T	0.00696711036585465	0.00079	T	0.756024	0.37907	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.25495	B	.;.;.;.	.;.;.;.	1.434276	0.18528	13.79	0.92367587132288642	0.21773	0.04135	0.09617	N	AEFBI	0.079038	0.15958	N	-1.20080847553611	0.04989	0.2264046	-1.27139982614014	0.04822	0.2283614	0.938086030264572	0.27327	0.632932	0.41330	0	0.588066	0.40923	0	0.601832	0.32385	0	0.567892	0.33627	0	.	.	3.99	-1.32	0.08721	-0.058000	0.11707	-0.539000	0.08593	-0.861000	0.02628	0.136000	0.23442	0.000000	0.08366	0.358000	0.25841	0.1735:0.435:0.0:0.3915	3.487	0.07186	8	0.99202	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1490.49	34	chr16	67814372	.	C	T	1490.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.182;DP=292;ExcessHet=0;FS=2.399;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-0.082;SOR=0.728	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1333	6	0	1	0
chr16	67825680	67825680	G	T	exonic	TSNAXIP1	.	nonsynonymous SNV	TSNAXIP1:NM_001351158:exon5:c.G564T:p.E188D,TSNAXIP1:NM_001288991:exon6:c.G621T:p.E207D,TSNAXIP1:NM_001288990:exon8:c.G828T:p.E276D,TSNAXIP1:NM_018430:exon8:c.G666T:p.E222D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.0200571886206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	0.24661	T	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000003	0.62929	D	0.000000	0.932492	0.37024	D	1.645	0.42016	L	5.43	0.00989	T	-0.77	0.22078	N	0.507	0.59563	-0.6846	0.61159	T	0.007	0.02518	T	10	0.18259493	0.33547	T	0.020057	0.42574	T	0.204	0.49076	0.431	0.48007	0.0551355673512	0.04727	0.08570458382377726	0.08504	0.416021963706	0.42244	0.403095245361	0.25500	T	0.080387	0.36351	T	-0.0656485	0.42021	T	-0.332076	0.41239	T	0.76644229888916	0.44228	D	0.806219	0.45944	T	0.095027156	0.22355	0.08109089	0.18399	0.095027156	0.22355	0.08109089	0.18399	-3.126	0.11597	T	.	.	0.310	0.57486	B	.;.;.;.	.;.;.;.	3.164526	0.42890	21.6	0.99601794973390856	0.74278	0.73069	0.35747	D	AEFBI	0.269974	0.38614	N	0.278497261623401	0.55060	3.670384	0.228719406541618	0.51447	3.327137	0.715939438540256	0.22874	0.608966	0.35542	0	0.588066	0.40923	0	0.769059	0.98459	0	0.528226	0.09195	0	.	.	5.8	1.21	0.20240	1.274000	0.32736	1.013000	0.23346	0.672000	0.70159	1.000000	0.71638	0.999000	0.35428	0.987000	0.62547	0.5862:0.0:0.4138:0.0	6.249	0.20045	8	0.99202	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	37	chr16	67825680	.	G	T	33.22	.	AC=2;AF=0.143;AN=14;DP=211;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1440	6	1	0	0
chr16	67843077	67843077	C	G	exonic	THAP11	.	nonsynonymous SNV	THAP11:NM_020457:exon1:c.C523G:p.P175A	.	415	1106	1	0	0	1	0.000451875	.	.	.	1488700	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.078	0.0248896189551	0.0005	0.000199681	0.0006	0	0.0002	0	0.0003	0.0009	0	0.0003	0.0005045	78	154602	rs139987005	0.0007	0.0007	0.0006	0.0008	0.0008	0.0007	0.0006	0.0007	0.0007	0.0002	6.708e-05	0.0002	0	0.0006	0.0007	0.0008	0.0007	0.0007	0.0008	0.0008	0.0009	0.0008	0.0014	0.0007	0.0007	0.0012	0.0011	9.62e-05	0	0.0007	0	0	0.0007	0.0034	0.0014	0	0.0014	0.576	0.06067	T	0.412	0.14456	T	0.0	0.02946	B	0.001	0.04355	B	0.007841	0.31171	N	0.289314	0.973606	0.39037	D	0.345	0.11182	N	1.36	0.34452	T	-0.11	0.08653	N	0.11	0.09631	-1.0665	0.10200	T	0.061	0.25346	T	10	0.016415954	0.00346	T	0.02489	0.47875	T	0.078	0.22779	.	.	0.600985507913	0.59780	0.4472036716442254	0.44638	1.14610708917	0.79080	0.620144605637	0.55750	T	0.115749	0.43457	T	-0.574585	0.00208	T	-0.604604	0.12427	T	0.0309931167431391	0.02145	T	0.647535	0.25853	T	0.070980586	0.15680	0.08470978	0.19505	0.06445155	0.13674	0.102564625	0.24586	-2.952	0.09673	T	0.1045169992544018	0.08184	0.055	0.00405	B	.	.	1.673792	0.21340	15.16	0.71146449444528803	0.09531	0.08913	0.14769	N	ALL	0.101981	0.20468	N	-0.653698603280938	0.17353	0.8921959	-0.59454525356633	0.19634	1.054337	0.999999999991333	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.273489	0.05413	2	.	.	5.09	5.09	0.68647	3.727000	0.54711	4.863000	0.45489	0.596000	0.33519	0.783000	0.29509	1.000000	0.68203	0.153000	0.20410	0.0:0.7842:0.2157:0.0	12.674	0.56247	8	0.99202	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1301.53	40	chr16	67843077	.	C	G	1301.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.482;DP=351;ExcessHet=0;FS=0.632;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=-0.495;SOR=0.62	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr16	67930041	67930041	C	T	exonic	CTRL	.	nonsynonymous SNV	CTRL:NM_001907:exon7:c.G688A:p.G230S	.	429	1086	7	0	0	7	0.00321248	.	.	.	2224657	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.801	0.273810103382	.	.	0.0002	0	0.0002	0	0	0.0001	0	0.0011	0.000194	30	154602	rs774504385	0.0002	0.0002	0.0001	0.0002	0.0013	0.0002	0.0002	0.0011	0.0010	2.987e-05	0.0002	0.0003	0	0	0.0012	9.712e-05	0.0002	0.0013	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	8.723e-05	0.0002	8.996e-05	2.415e-05	0	0	0.0009	0	0	0.0032	0.0002	0.0014	0.0006	.	.	.	0.016	0.60972	D	0.999	0.77913	D	0.994	0.82059	D	0.000776	0.41888	D	0.239350	1	0.81001	D	4.59	0.99231	H	-6.1	0.99525	D	.	.	.	0.64	0.65245	0.679	0.92908	D	0.710	0.90042	D	9	0.65592897	0.69873	D	0.27381	0.89979	D	.	.	.	.	0.994736968977	0.99468	0.8379203363834064	0.83752	0.530354471859	0.50573	0.468298435211	0.34447	T	0.791234	0.97718	D	0.257047	0.79256	D	0.561076	0.95963	D	0.374970080933562	0.27989	T	0.987301	0.95681	D	0.728	0.79633	0.70734966	0.82744	0.728	0.79635	0.70734966	0.82745	-11.72	0.83461	D	.	.	0.901	0.82802	P	.;.	.;.	4.394928	0.67856	25.2	0.99874558226117893	0.95160	0.96662	0.70275	D	AEFBCI	0.699623	0.65691	D	0.84156867909473	0.88622	9.648298	0.701370077494279	0.82483	7.778139	0.999999999999999	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.696353	0.63694	0	0.491896	0.07777	0	.	.	5.74	5.74	0.90070	6.176000	0.71885	2.748000	0.34514	0.549000	0.26987	1.000000	0.71638	0.980000	0.30356	0.855000	0.40485	0.0:1.0:0.0:0.0	19.920	0.97085	8	0.99202	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1481.44	33	chr16	67930041	.	C	T	1481.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.491;DP=305;ExcessHet=0;FS=5.703;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=-1.797;SOR=0.811	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1371	6	0	1	0
chr16	67945400	67945400	C	A	exonic	SLC12A4	.	nonsynonymous SNV	SLC12A4:NM_001145962:exon21:c.G3007T:p.D1003Y,SLC12A4:NM_001145961:exon22:c.G2983T:p.D995Y,SLC12A4:NM_001145963:exon22:c.G2983T:p.D995Y,SLC12A4:NM_001145964:exon22:c.G2908T:p.D970Y,SLC12A4:NM_005072:exon22:c.G3001T:p.D1001Y	.	429	1087	6	0	0	6	0.00275229	.	.	.	2761258	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.082	0.021660994623	.	.	0.0002	0	0.0002	0	0	6.016e-05	0	0.0008	0.0001229	19	154602	rs751326359	9.989e-05	9.987e-05	5.446e-05	0.0001	0.0010	8.647e-05	8.135e-05	0.0008	0.0008	2.987e-05	4.474e-05	0.0003	0	0	0.0010	3.148e-05	0.0001	0.0010	8.541e-05	8.536e-05	6.423e-05	0.0001	0.0006	4.957e-05	3.962e-05	0.0002	8.985e-05	2.412e-05	0	0	0.0009	0	0	0	5.88e-05	0.0010	0.0006	0.004	0.68238	D	0.007	0.69154	D	0.04	0.23728	B	0.105	0.31087	B	0.000748	0.42006	D	0.237792	0.999398	0.81001	D	0	0.06538	N	0.96	0.42888	T	-2.28	0.50830	N	0.368	0.43803	-0.9896	0.32702	T	0.078	0.31193	T	10	0.07414466	0.11295	T	0.021661	0.44458	T	0.082	0.23913	.	.	0.570232391912	0.56690	0.32774334912053904	0.32687	0.605868047758	0.55455	0.477193027735	0.35670	T	0.416865	0.76969	T	-0.379022	0.03160	T	-0.373563	0.36474	T	0.0430555994315282	0.04247	T	0.955704	0.83632	D	0.23344924	0.46149	0.20587438	0.44777	0.23344924	0.46149	0.20587438	0.44776	-9.432	0.70666	D	.	.	0.171	0.44501	B	.;.;.;.;.;.	.;.;.;.;.;.	3.777090	0.54290	23.5	0.98787174072175021	0.46222	0.92418	0.55666	D	AEFDGBCIJ	0.744300	0.68733	D	-0.0306868272694232	0.40470	2.403841	0.180558402993533	0.48783	3.089607	0.999999999909678	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	4.634000	0.61023	4.057000	0.41556	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.995000	0.73285	0.0:0.9242:0.0:0.0758	12.575	0.55713	8	0.99202	SLC12A transporter, C-terminal;.;SLC12A transporter, C-terminal;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1262.27	35	chr16	67945400	.	C	A	1262.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.391;DP=303;ExcessHet=0;FS=3.147;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=0.275;SOR=0.97	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1015	5	0	1	1
chr16	67977306	67977306	G	A	exonic	DPEP3	.	stopgain	DPEP3:NM_001129758:exon7:c.C979T:p.Q327X,DPEP3:NM_001370198:exon7:c.C982T:p.Q328X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164548	0.17559	N	0.574879	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.079	0.05414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.497318	0.94214	D	0.476586	0.94137	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.390398	0.97508	37	0.99689723314774137	0.79842	0.59460	0.30921	D	AEFBCI	0.181993	0.30931	N	0.827329322770458	0.87782	9.338917	0.681199831417144	0.80953	7.414897	0.971958542624388	0.29330	0.706298	0.61202	0	0.626922	0.53725	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	5.18	5.18	0.71140	1.547000	0.35798	9.863000	0.82071	0.676000	0.76740	0.921000	0.31989	1.000000	0.68203	0.907000	0.44265	0.0:0.0:0.8186:0.1814	11.335	0.48736	10	0.99061	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1288.45	35	chr16	67977306	.	G	A	1288.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.459;DP=299;ExcessHet=0;FS=1.461;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-0.939;SOR=0.876	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr16	68214404	68214404	G	A	exonic	NFATC3	.	nonsynonymous SNV	NFATC3:NM_004555:exon10:c.G3182A:p.C1061Y	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0124022179661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.52	0.10465	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.18	0.07478	T	-0.41	0.14000	N	0.318	0.35832	-0.9787	0.35299	T	0.013	0.05225	T	9	0.14463878	0.27446	T	0.012402	0.30939	T	0.062	0.17934	0.446	0.50466	0.0934897674506	0.08844	.	.	.	.	.	.	.	.	.	.	-0.256143	0.13356	T	-0.605708	0.12335	T	0.266684752807978	0.23605	T	0.483852	0.14720	T	.	.	.	.	.	.	.	.	-3.892	0.22182	T	.	.	0.171	0.37520	B	.	.	1.343375	0.17498	13.20	0.67512549268135702	0.08377	0.63090	0.31981	D	AEFDGBHI	0.114550	0.22558	N	-0.346122278223329	0.27415	1.50393	-0.164436091828691	0.32856	1.873502	0.811696965577314	0.24367	0.615465	0.37627	0	0.614415	0.52539	0	0.566861	0.19136	0	0.655142	0.61905	0	.	.	6.06	2.34	0.28071	0.257000	0.18137	2.264000	0.31782	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.997000	0.79791	0.2552:0.0:0.5803:0.1645	4.727	0.12326	12	0.98946	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1007.45	105	chr16	68214404	.	G	A	1007.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.299;DP=294;ExcessHet=0;FS=1.582;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=1.47;SOR=0.847	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1349	6	0	1	0
chr16	68695344	68695344	G	A	exonic	CDH3	.	nonsynonymous SNV	CDH3:NM_001317196:exon13:c.G1927A:p.V643I,CDH3:NM_001317195:exon14:c.G2092A:p.V698I,CDH3:NM_001793:exon14:c.G2092A:p.V698I	Ectodermal dysplasia, ectrodactyly, and macular dystrophy, Autosomal recessive;Hypotrichosis, congenital, with juvenile macular dystrophy, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1012309	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.206	0.0122897739445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.473e-06	5.472e-06	5.445e-06	5.501e-06	0.0002	2.35e-06	1.7e-06	7.2e-07	2e-07	2.987e-05	0	0	0	0	0.0002	2.698e-06	4.968e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.03091	T	0.936	0.52359	P	0.462	0.46509	P	0.003078	0.35480	N	0.000000	0.915618	0.37568	D	-0.18	0.04256	N	-1.04	0.76561	T	0.0	0.07882	N	0.255	0.28849	-0.6763	0.61543	T	0.170	0.51003	T	10	0.16948637	0.31558	T	0.01229	0.30730	T	0.206	0.49396	0.615	0.74884	0.782186682139	0.78017	0.4440869422693172	0.44326	0.394572771458	0.40613	0.563964128494	0.47827	T	0.075301	0.35144	T	-0.142283	0.29527	T	-0.442156	0.28567	T	0.814851105213165	0.47395	D	0.882412	0.62412	D	0.023941038	0.01178	0.036179133	0.03012	0.023941038	0.01178	0.036179133	0.03012	-5.728	0.43942	T	0.08848860924739031	0.05309	0.081	0.13456	B	.;.	.;.	3.457791	0.48178	22.6	0.98129167608387269	0.38506	0.26440	0.22994	N	AEFDBI	0.207347	0.33352	N	-0.19691816721468	0.33261	1.885086	-0.0831481682832097	0.36085	2.095657	0.996930613796013	0.35130	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	5.13	5.13	0.69729	0.672000	0.24868	7.508000	0.59580	0.676000	0.76740	0.176000	0.24013	1.000000	0.68203	0.966000	0.53164	0.093:0.0:0.907:0.0	9.975	0.40948	300	0.87974	Cadherin, cytoplasmic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1274.46	36	chr16	68695344	.	G	A	1274.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.05;DP=299;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.795;SOR=0.739	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1328	6	0	1	0
chr16	69749266	69749266	T	C	exonic	NOB1	.	nonsynonymous SNV	NOB1:NM_014062:exon5:c.A472G:p.M158V	.	426	1078	17	1	0	19	0.00873563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	.	0.00199681	0.0018	0.0002	0.0004	0.0001	0	0.0003	0.0011	0.0117	0.0015524	240	154602	rs199909206	0.0009	0.0009	0.0005	0.0012	0.0105	0.0008	0.0008	0.0099	0.0097	8.978e-05	0.0003	0	5.038e-05	0	0.0024	0.0002	0.0008	0.0105	0.0005	0.0005	0.0003	0.0006	0.0087	0.0004	0.0003	0.0066	0.0059	0.0001	0	0.0004	0	0	0	0.0034	0.0002	0	0.0087	0.536	0.06891	T	0.676	0.06186	T	0.0	0.02946	B	0.0	0.01387	B	0.048066	0.23286	N	0.501568	0.999549	0.21009	N	-0.29	0.03673	N	1.64	0.27822	T	-0.79	0.21860	N	0.091	0.06990	-1.0589	0.12032	T	0.021	0.08732	T	9	0.005752206	0.00128	T	.	.	.	0.063	0.18251	.	.	0.297718772494	0.29385	0.20823882157622545	0.20739	0.134140504209	0.15111	0.262072712183	0.05140	T	0.009424	0.08585	T	-0.634145	0.00090	T	-0.674287	0.07337	T	0.0126412135420898	0.00212	T	0.749425	0.37065	T	0.022405138	0.00901	0.036559027	0.03128	0.022405138	0.00900	0.036559027	0.03128	-5.429	0.41197	T	.	.	0.056	0.00487	B	.	.	-0.516803	0.01814	0.142	0.77568087588114643	0.11930	0.54251	0.29570	D	AEFDGBCI	0.161338	0.28738	N	-1.36488093593464	0.02973	0.1321195	-1.37964222457883	0.03469	0.1619106	0.999991078213553	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.89	-9.78	0.00413	-0.092000	0.11094	-6.574000	0.01362	-0.122000	0.13826	0.878000	0.30948	0.000000	0.08366	0.978000	0.57271	0.1566:0.3904:0.3163:0.1367	4.422	0.10912	96	0.96030	Putative WW-binding domain and destruction box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.030303	0.07143	1491.83	38	chr16	69749266	.	T	C	1491.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.505;DP=319;ExcessHet=0;FS=2.442;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.72;SOR=0.49	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,111,1665	6	0	1	0
chr16	70132237	70132237	A	G	exonic	PDPR	.	nonsynonymous SNV	PDPR:NM_001322118:exon7:c.A634G:p.I212V,PDPR:NM_001322117:exon9:c.A934G:p.I312V,PDPR:NM_017990:exon9:c.A934G:p.I312V	.	418	1085	19	0	0	19	0.00867976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	.	.	0.0024	0.0161	0.0012	0	0	0.0004	0.0056	0.0052	0.0019728	305	154602	rs200212343	0.0003	0.0007	0.0002	0.0004	0.0028	0.0003	0.0003	0.0025	0.0024	0.0009	0.0003	0.0005	5.038e-05	0	0.0023	9.715e-05	0.0006	0.0028	0.0002	0.0003	0.0002	0.0003	0.0027	0.0002	0.0001	0.0016	0.0013	4.81e-05	0	0.0001	0.0009	0	0	0	0.0002	0.0014	0.0027	1.0	0.00964	T	1.0	0.01155	T	0.025	0.19245	B	0.019	0.18783	B	0.000000	0.84330	D	0.050662	0.999626	0.47904	D	1.11	0.28643	L	1.69	0.27032	T	0.44	0.03243	N	0.519	0.54932	-1.0736	0.08639	T	0.031	0.13155	T	10	0.010658145	0.00236	T	.	.	.	0.056	0.15993	.	.	0.366466682447	0.36252	0.46028569994023094	0.45946	0.384480209222	0.39746	0.501907587051	0.39094	T	0.018119	0.34819	T	-0.173895	0.24648	T	-0.487565	0.23645	T	0.0139654405173654	0.00268	T	0.922108	0.71672	D	0.03260917	0.03319	0.04228881	0.05003	0.03260917	0.03319	0.04228881	0.05003	-5.65	0.43246	T	.	.	0.077	0.08033	B	.;.;.	.;.;.	1.922213	0.24416	16.39	0.49956463330930956	0.04300	0.68614	0.33869	D	AEFDBHCI	0.430191	0.49300	N	-0.587404041057041	0.19327	1.010584	-0.367217833693819	0.25982	1.432211	0.00141110113601005	0.08519	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.16	4.05	0.46415	4.032000	0.56985	5.196000	0.47916	0.645000	0.52629	0.999000	0.42656	1.000000	0.68203	0.997000	0.79791	0.6837:0.3163:0.0:0.0	11.065	0.47190	198	0.92335	FAD dependent oxidoreductase;FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.009511	0.002924	0.000000	0.008621	0.000000	0.011364	0.07143	309.49	51	chr16	70132237	.	A	G	309.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.28;DP=225;ExcessHet=0;FS=1.128;MLEAC=1;MLEAF=0.071;MQ=57.52;MQRankSum=-0.771;QD=6.07;ReadPosRankSum=0.187;SOR=0.87	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,957	6	0	1	0
chr16	70177319	70177319	G	A	exonic	CLEC18C	.	nonsynonymous SNV	CLEC18C:NM_173619:exon4:c.G295A:p.G99S	.	433	1068	21	0	0	21	0.00973574	.	.	.	3660427	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.009	0.00229342874219	.	.	5.955e-05	0	0.0002	0	0	7.557e-05	0	0	7.68e-05	2	26028	rs776843053	0.0001	0.0005	0.0001	0.0001	0.0010	0.0001	0.0001	0.0007	0.0006	0.0010	8.972e-05	0.0001	2.539e-05	0	0.0006	6.661e-05	0.0009	0.0001	0.0001	0.0002	0.0001	0.0001	0.0009	7.355e-05	6.063e-05	0.0003	0.0002	0.0002	0	0	0.0003	0	0	0	4.497e-05	0.0005	0.0009	0.824	0.17584	T	0.721	0.12957	T	0.059	0.23051	B	0.025	0.20508	B	0.380192	0.04415	N	1.337120	1	0.08975	N	1.385	0.34509	L	3.12	0.08898	T	0.22	0.04694	N	0.144	0.14480	-0.9987	0.30283	T	0.036	0.15422	T	10	0.052730262	0.05352	T	0.002293	0.04397	T	0.017	0.02790	.	.	0.043077524339	0.03247	0.1883476226636304	0.18752	.	.	.	.	.	0.012624	0.11064	T	-0.297012	0.08945	T	-0.664413	0.07972	T	0.0259131440635412	0.01394	T	0.432757	0.11777	T	0.026957333	0.01821	0.034152143	0.02431	0.026957333	0.01821	0.034152143	0.02431	-2.428	0.05307	T	.	.	0.066	0.02173	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.135741	0.03435	0.629	0.3990226419411706	0.02783	0.03713	0.08999	N	AEFDI	0.067744	0.13331	N	-1.00973544960941	0.08401	0.3937751	-1.17016678467506	0.06413	0.3086307	4.28208711897542E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.67	-3.42	0.04521	-0.273000	0.08580	-0.286000	0.10231	0.368000	0.20244	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.413:0.0:0.236:0.351	2.748	0.04947	162	0.93704	CAP domain|CAP domain;CAP domain|CAP domain;CAP domain|CAP domain;.;CAP domain|CAP domain;CAP domain|CAP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1427.44	185	chr16	70177319	.	G	A	1427.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.207;DP=715;ExcessHet=0;FS=0.645;MLEAC=1;MLEAF=0.071;MQ=37.15;MQRankSum=-4.424;QD=7.72;ReadPosRankSum=-1.79;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:125,0:125:99:.:.:0,120,1800:.	6	0	1	0
chr16	70177328	70177328	C	T	exonic	CLEC18C	.	nonsynonymous SNV	CLEC18C:NM_173619:exon4:c.C304T:p.R102C	.	429	1071	22	0	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00741372403503	.	0.000199681	4.677e-05	0	0.0001	0.0003	0	2.847e-05	0	0	3.84e-05	1	26028	rs533214847	5.895e-05	0.0004	5.726e-05	6.065e-05	0.0011	4.886e-05	4.505e-05	0.0009	0.0008	5.989e-05	6.724e-05	0.0001	0.0011	0	0.0005	1.35e-05	8.314e-05	0.0001	6.023e-05	0.0002	5.228e-05	6.857e-05	0.0006	3.129e-05	2.347e-05	0.0002	9.227e-05	0	0	0	0.0003	0.0004	0	0	1.481e-05	0.0010	0.0006	0.039	0.45393	D	0.107	0.45110	T	0.895	0.49247	P	0.448	0.46037	P	0.084338	0.02388	N	1.740020	1	0.08975	N	1.865	0.49290	L	3.13	0.10008	T	-1.48	0.36189	N	0.205	0.24260	-1.0177	0.24463	T	0.022	0.09330	T	10	0.09364423	0.16588	T	0.007414	0.19657	T	0.157	0.40909	.	.	0.043077524339	0.03247	0.2397432577910385	0.23888	.	.	.	.	.	0.014358	0.12236	T	-0.00945993	0.50340	T	-0.251365	0.49682	T	0.729884922504425	0.42204	D	0.765423	0.39305	T	0.08999967	0.21046	0.049599133	0.07614	0.08999967	0.21045	0.049599133	0.07614	-8.191	0.62365	D	.	.	0.127	0.32030	B	.;.;.;.;.;.	.;.;.;.;.;.	1.321434	0.17257	13.05	0.99629999369341704	0.75959	0.03734	0.09030	N	AEFDI	0.093056	0.18832	N	-0.597350344341462	0.19025	0.9924862	-0.7475599950126	0.15782	0.8317537	2.14520971887058E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.89	1.85	0.24418	-0.236000	0.09019	0.233000	0.16214	0.324000	0.19419	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1692:0.5629:0.2679:0.0	6.173	0.19644	162	0.93704	CAP domain|CAP domain;CAP domain|CAP domain;CAP domain|CAP domain;.;CAP domain|CAP domain;CAP domain|CAP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1539.44	196	chr16	70177328	.	C	T	1539.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.177;DP=915;ExcessHet=0;FS=1.309;MLEAC=1;MLEAF=0.071;MQ=37.69;MQRankSum=-4.174;QD=7.85;ReadPosRankSum=-1.621;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:215,0:215:99:.:.:0,120,1800:.	6	0	1	0
chr16	70251528	70251528	C	A	exonic	EXOSC6	.	nonsynonymous SNV	EXOSC6:NM_058219:exon1:c.G373T:p.A125S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.583019420939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.095e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.798	0.04091	T	0.004	0.12183	B	0.05	0.25278	B	0.035639	0.24620	U	0.364745	1	0.08975	N	1.015	0.25427	L	-0.1	0.64264	T	-1.06	0.27669	N	0.194	0.21319	-1.0598	0.11805	T	0.121	0.42208	T	10	0.23337927	0.40354	T	0.583019	0.96270	D	0.105	0.29889	0.512	0.61000	0.614704429015	0.61159	0.3033568989701552	0.30248	1.49531241128	0.86950	0.933788537979	0.99188	D	0.049705	0.28385	T	-0.121323	0.32907	T	-0.412049	0.31988	T	0.380386590957642	0.28197	T	0.414759	0.10842	T	0.29787484	0.52713	0.21661869	0.46296	0.29787484	0.52713	0.21661869	0.46295	-5.037	0.37239	T	.	.	0.162	0.35849	B	.	.	2.817044	0.37099	20.4	0.99024060320077389	0.50655	0.34202	0.25011	N	AEFDBHCIJ	0.062688	0.12065	N	-0.510310208848936	0.21745	1.156309	-0.404985932916856	0.24850	1.363155	0.999999999892469	0.74766	0.441713	0.08003	0	0.218748	0.04544	0	0.52208	0.10781	0	0.492483	0.08430	1	.	.	3.66	2.69	0.30923	1.132000	0.31031	4.071000	0.41665	0.417000	0.20760	0.053000	0.21524	1.000000	0.68203	0.230000	0.22734	0.0:0.6369:0.2339:0.1291	4.511	0.11318	152	0.94023	Exoribonuclease, phosphorolytic domain 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	402.56	7	chr16	70251528	.	C	A	402.56	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.121;DP=169;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.716;SOR=0.474	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	6	0	1	0
chr16	70466898	70466898	C	T	exonic	FCSK	.	nonsynonymous SNV	FCSK:NM_145059:exon6:c.C428T:p.P143L	.	420	1099	3	0	0	3	0.00136302	.	.	.	2869648	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.306	0.0856949305676	.	.	4.203e-05	0	0	0	0	4.565e-05	0.0011	6.13e-05	5.17e-05	8	154602	rs572099494	6.98e-05	6.977e-05	6.809e-05	7.153e-05	0.0001	5.848e-05	5.459e-05	4.907e-05	3.165e-05	0	6.711e-05	0.0009	0.0001	1.883e-05	0	1.979e-05	0.0007	3.479e-05	0.0001	0.0001	0.0002	9.397e-05	0.0003	9.735e-05	8.25e-05	8.87e-05	5.282e-05	2.405e-05	0	0.0003	0.0014	0.0002	0	0	1.47e-05	0.0047	0	0.006	0.61437	D	0.007	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.62	0.76659	M	1.41	0.33412	T	-5.48	0.85921	D	0.642	0.65416	-0.8045	0.54879	T	0.203	0.56031	T	10	0.5401778	0.63674	D	0.085695	0.74586	D	0.306	0.62729	0.656	0.79379	0.564503807532	0.56114	0.6831610654957836	0.68255	0.382062709471	0.39545	0.656060993671	0.60846	T	0.337706	0.70706	T	-0.00425839	0.51066	T	-0.0680465	0.65765	T	0.682997524738312	0.39925	D	0.934107	0.82627	D	0.39078552	0.60088	0.39988333	0.64539	0.39078552	0.60088	0.39988333	0.64539	-9.868	0.73118	D	.	.	0.246	0.55438	B	.;.;.;.	.;.;.;.	5.629503	0.92664	32	0.99861905153867925	0.94002	0.98331	0.81705	D	AEFDBIJ	0.692215	0.65195	D	0.775278679186593	0.84539	8.316	0.748112568811509	0.86016	8.756349	0.999999999976052	0.74766	0.646311	0.45356	0	0.601575	0.49859	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	5.24	5.24	0.72863	7.007000	0.76083	7.577000	0.60860	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.673000	0.33338	0.0:1.0:0.0:0.0	19.203	0.93705	106	0.95650	L-fucokinase;L-fucokinase;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	567.63	50	chr16	70466898	.	C	T	567.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.39;DP=223;ExcessHet=0;FS=1.093;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-1.593;SOR=0.748	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1121	6	0	1	0
chr16	70473143	70473143	C	T	exonic	FCSK	.	nonsynonymous SNV	FCSK:NM_145059:exon15:c.C1567T:p.R523W	.	.	.	.	.	.	.	.	.	.	.	1674276	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.211	0.0792336541285	8.4e-05	0.000399361	0.0001	0.0006	0.0009	0	0	0	0	0.0001	4.53e-05	7	154602	rs369957269	4.34e-05	6.498e-05	2.392e-05	6.335e-05	0.0004	3.443e-05	3.121e-05	0.0003	0.0003	0	7.997e-05	0	0	2.26e-05	0.0004	1.658e-05	3.43e-05	0.0004	6.564e-05	6.561e-05	6.423e-05	6.711e-05	0.0004	3.513e-05	2.614e-05	7.287e-05	3.028e-05	0	0	0.0001	0	0	0	0	8.819e-05	0	0.0004	0.001	0.78490	D	0.003	0.76473	D	0.999	0.90584	D	0.893	0.92359	P	0.000099	0.51296	D	0.121658	0.891096	0.35954	D	2.51	0.73131	M	3.03	0.11947	T	-4.66	0.79482	D	0.84	0.83576	-1.1144	0.02718	T	0.071	0.28871	T	10	0.20932999	0.37291	T	0.079234	0.73187	D	0.211	0.50185	.	.	0.367803931526	0.36392	0.7585770891354718	0.75805	0.385891351295	0.39878	0.754492759705	0.75110	T	0.602947	0.87301	D	0.0866568	0.62811	D	-0.1133	0.62348	T	0.856227993965149	0.50710	D	0.937706	0.77081	D	0.46369305	0.64900	0.37434417	0.62602	0.46369305	0.64901	0.37434417	0.62602	-7.691	0.60249	D	.	.	0.280	0.51925	B	.;.;.	.;.;.	3.400448	0.47126	22.4	0.97746159042797487	0.35714	0.51195	0.28839	D	AEFDBI	0.255161	0.37434	N	0.259948306985182	0.54132	3.579662	0.157738363513961	0.47553	2.98386	0.937463747047457	0.27299	0.615465	0.37627	0	0.633656	0.55848	0	0.603688	0.36954	0	0.491896	0.07777	0	.	.	5.84	1.19	0.20120	-0.380000	0.07484	-0.075000	0.12249	0.596000	0.33519	0.260000	0.24949	0.489000	0.25143	0.730000	0.35099	0.3874:0.5478:0.0:0.0648	11.786	0.51314	108	0.95573	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004132	0.000000	0.008333	0.000000	0.000000	0.000000	0.003185	0.000000	0.07143	514.83	24	chr16	70473143	.	C	T	514.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.82;DP=214;ExcessHet=0;FS=3.758;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.04;ReadPosRankSum=-1.166;SOR=1.306	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,117,1755	6	0	1	0
chr16	70664739	70664739	C	T	exonic	MTSS2	.	nonsynonymous SNV	MTSS2:NM_138383:exon14:c.G1330A:p.A444T	.	.	.	.	.	.	.	.	.	.	.	3986540	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.130	0.0349362481155	7.7e-05	.	7.149e-05	0	0	0	0.0002	0.0001	0	0	5.17e-05	8	154602	rs149700961	5.686e-05	5.814e-05	6.543e-05	4.82e-05	0.0002	4.683e-05	4.307e-05	4.614e-05	4.199e-05	0	2.245e-05	0	2.521e-05	0.0002	0.0002	5.758e-05	8.293e-05	1.163e-05	5.256e-05	5.253e-05	3.853e-05	6.724e-05	0.0001	2.557e-05	1.83e-05	4.765e-05	3.339e-05	0	0	0	0	0	9.406e-05	0	0.0001	0	0	0.135	0.26192	T	0.101	0.40586	T	0.007	0.14184	B	0.002	0.06944	B	0.013723	0.28749	N	0.380763	0.997256	0.43744	D	2.32	0.66415	M	1.43	0.32958	T	-1.85	0.43334	N	0.806	0.80180	-1.0748	0.08390	T	0.071	0.29034	T	10	0.5023295	0.61620	D	0.034936	0.56012	D	0.130	0.35528	.	.	0.262679179196	0.25893	0.3349688043379199	0.33409	0.0361349943124	0.03815	0.786741733551	0.79946	T	0.108079	0.42081	T	-0.215591	0.18599	T	-0.359647	0.38094	T	0.233754515647888	0.22129	T	0.980602	0.93381	D	0.100441344	0.23715	0.10328368	0.24779	0.100441344	0.23715	0.10328368	0.24778	-8.31	0.63163	D	.	.	0.528	0.75356	A	.;.	.;.	4.159779	0.62465	24.5	0.99498997881872719	0.67916	0.98061	0.79268	D	AEFDBHCI	0.865829	0.78506	D	-0.25479660562004	0.30913	1.728201	-0.163454570184867	0.32893	1.875997	0.999999914288687	0.74766	0.787689	0.99735	0	0.588015	0.36545	0	0.0	0.00061	3	0.714379	0.83352	0	.	.	4.89	3.94	0.44807	7.855000	0.85281	5.867000	0.50493	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.545000	0.30055	0.0:0.9182:0.0:0.0818	12.668	0.56213	289	0.88525	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	581.27	32	chr16	70664739	.	C	T	581.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.898;DP=218;ExcessHet=0;FS=7.45;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=2.07;SOR=0.949	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	5	0	1	1
chr16	70862243	70862243	T	C	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon69:c.A11582G:p.K3861R	Ciliary dyskinesia, primary, 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0516671310721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.84e-07	0	1.377e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.17296	T	.	.	.	.	.	.	.	.	.	0.541128	0.11535	U	0.659026	1	0.08975	N	1.97	0.53315	M	5.5	0.00921	T	-0.85	0.23156	N	0.111	0.09772	-0.5678	0.66103	T	0.005	0.01578	T	10	0.1312739	0.24983	T	0.051667	0.64754	D	0.097	0.27909	0.192	0.10304	0.352048277211	0.34822	0.12175498999630743	0.12102	.	.	0.380385994911	0.22311	T	0.052458	0.29166	T	-0.240397	0.15298	T	-0.58309	0.14271	T	0.615385770797729	0.37018	D	.	.	.	0.04399247	0.06954	0.045494746	0.06133	0.04399247	0.06954	0.045494746	0.06133	-3.491	0.16306	T	.	.	0.078	0.06896	B	.	.	1.784241	0.22686	15.72	0.98929369246193521	0.48713	0.37534	0.25783	N	AEFDBHCIJ	0.088477	0.17937	N	-0.0323049721041186	0.40396	2.398255	-0.0927161040186666	0.35691	2.067844	0.999999999999979	0.74766	0.648878	0.45929	0	0.563428	0.19063	0	0.596394	0.31383	0	0.613276	0.41899	0	.	.	5.64	4.55	0.55429	1.340000	0.33501	2.357000	0.32349	0.665000	0.62972	0.505000	0.26994	1.000000	0.68203	0.325000	0.25087	0.0:0.0915:0.0:0.9085	7.784	0.28247	542	0.72843	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	603.46	33	chr16	70862243	.	T	C	603.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.65;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.18;MQRankSum=-0.196;QD=13.41;ReadPosRankSum=0.341;SOR=0.765	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1141	6	0	1	0
chr16	70941764	70941764	T	C	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon43:c.A6725G:p.Q2242R	Ciliary dyskinesia, primary, 5, Autosomal recessive	1	1476	45	0	0	45	0.015015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00304817483334	.	.	.	.	.	.	.	.	.	.	0.201821	5253	26028	rs2258307	0.0006	0.0046	0.0005	0.0007	0.0030	0.0005	0.0005	0.0026	0.0025	0.0008	0.0020	0.0007	0.0016	0.0004	0.0007	0.0003	0.0006	0.0030	0.0006	0.0069	0.0006	0.0007	0.0015	0.0005	0.0005	0.0007	0.0006	0.0006	0.0012	0.0011	0.0006	0.0007	0.0006	0	0.0004	0.0005	0.0015	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	0.007911	0.31126	N	0.000000	1	0.08975	N	-2.535	0.00052	N	1.83	0.24841	T	0.95	0.01509	N	0.075	0.04913	-0.9444	0.41911	T	0.011	0.03949	T	10	0.014688522	0.00309	T	0.003048	0.06577	T	0.055	0.15663	0.126	0.03173	0.0401082797425	0.02173	0.06463877075559986	0.06402	.	.	0.302159249783	0.10723	T	0.024145	0.18301	T	-0.40012	0.02311	T	-0.812521	0.01609	T	0.00371605582644517	0.00039	T	.	.	.	0.01730264	0.00262	0.047856588	0.06984	0.01730264	0.00262	0.047856588	0.06983	-1.638	0.02072	T	.	.	0.057	0.00514	B	.	.	-0.062839	0.03868	0.839	0.12267503050596004	0.00208	0.00371	0.01888	N	AEFDBI	0.034365	0.04242	N	-2.02332666223511	0.00188	0.008074081	-1.83612994732176	0.00650	0.02891615	0.999998211458731	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.607795	0.38427	0	0.542086	0.14980	0	.	.	5.32	2.3	0.27735	0.561000	0.23220	-0.085000	0.12129	-1.628000	0.00857	0.004000	0.16614	0.000000	0.08366	0.046000	0.14843	0.0:0.6869:0.1154:0.1977	7.931	0.29066	552	0.72024	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	52.17	33	chr16	70941764	.	T	C	52.17	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.825;DP=348;ExcessHet=0;FS=21.456;MLEAC=1;MLEAF=0.1;MQ=49.2;MQRankSum=-5.423;QD=0.53;ReadPosRankSum=-2.429;SOR=4.277	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	4	0	1	2
chr16	71067297	71067297	T	C	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001198542:exon15:c.A2149G:p.T717A,HYDIN:NM_001198543:exon15:c.A2119G:p.T707A,HYDIN:NM_001270974:exon15:c.A2068G:p.T690A,HYDIN:NM_017558:exon15:c.A2068G:p.T690A	Ciliary dyskinesia, primary, 5, Autosomal recessive	2	1515	5	0	0	5	0.00164745	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0178850769417	.	.	0.0002	0.0008	0	0.0002	0	0.0002	0	0.0002	0.198402	5164	26028	rs10744982	0.0011	0.0016	0.0010	0.0012	0.0038	0.0011	0.0011	0.0032	0.0030	0.0037	0.0018	0.0003	0.0015	0.0016	0.0038	0.0009	0.0016	0.0016	0.0046	0.0055	0.0043	0.0049	0.0091	0.0043	0.0042	0.0083	0.0080	0.0091	0.0011	0.0030	0.0009	0.0045	0.0016	0.0068	0.0030	0.0067	0.0025	0.033	0.44358	D	0.03	0.54541	D	0.767	0.43786	P	0.491	0.47360	P	0.004580	0.33608	U	0.000000	0.946567	0.37532	D	1.845	0.48678	L	3.2	0.07236	T	-2.18	0.62008	N	0.62	0.64648	-1.0410	0.17011	T	0.060	0.25127	T	10	0.029135227	0.01042	T	0.017885	0.39762	T	0.082	0.23913	.	.	0.180583059064	0.17676	0.31962033918994315	0.31875	.	.	0.468221008778	0.34436	T	0.144842	0.48166	T	-0.129986	0.31497	T	-0.424493	0.30562	T	0.0355347792472406	0.02899	T	.	.	.	0.2797891	0.51028	0.20425557	0.44541	0.28480807	0.51506	0.30171698	0.56203	-8.068	0.66784	D	.	.	0.180	0.41187	B	.;.;.;.;.	.;.;.;.;.	3.866032	0.56101	23.7	0.99298037596038013	0.58505	0.90523	0.51769	D	AEFDBI	0.787069	0.71696	D	0.369708649013584	0.59786	4.16116	0.394615079195798	0.61231	4.320503	0.999999999202516	0.74766	0.600919	0.35232	0	0.563428	0.19063	0	0.640751	0.46059	0	0.613276	0.41899	0	.	.	4.99	4.99	0.65942	3.390000	0.52263	7.956000	0.75945	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:0.0:0.0:1.0	13.749	0.62374	674	0.60593	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004028	0.005051	0.001359	0.005848	0.000000	0.000000	0.009146	0.000000	0.08333	49.27	34	chr16	71067297	.	T	C	49.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.64;DP=253;ExcessHet=0;FS=13.969;MLEAC=1;MLEAF=0.083;MQ=50.14;MQRankSum=-3.521;QD=0.77;ReadPosRankSum=-1.603;SOR=2.543	GT:AD:DP:GQ:PL	0/1:57,7:64:59:59,0,1455	5	0	1	1
chr16	71069386	71069386	G	A	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001198542:exon14:c.C1936T:p.H646Y,HYDIN:NM_001198543:exon14:c.C1906T:p.H636Y,HYDIN:NM_001270974:exon14:c.C1855T:p.H619Y,HYDIN:NM_017558:exon14:c.C1855T:p.H619Y	Ciliary dyskinesia, primary, 5, Autosomal recessive	2	1492	27	1	0	29	0.00962496	.	.	.	2817733	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.00217146394401	0.0012	0.000599042	0.0012	0.0004	0.0011	0	0.0003	0.0017	0.0011	0.0007	0.0008837	23	26028	rs144124863	0.0010	0.0010	0.0009	0.0010	0.0090	0.0009	0.0009	0.0071	0.0064	0.0002	0.0016	0.0081	0	0.0002	0.0090	0.0008	0.0020	0.0006	0.0011	0.0011	0.0011	0.0011	0.0018	0.0009	0.0009	0.0013	0.0011	0.0003	0	0.0018	0.0098	0	0	0.0170	0.0011	0.0033	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.088968	0.02434	N	2.572970	1	0.08975	N	-1.1	0.00987	N	5.6	0.05989	T	-0.36	0.13035	N	0.087	0.06454	-0.9837	0.34140	T	0.010	0.03492	T	10	0.0025181174	0.00038	T	0.002171	0.04071	T	0.013	0.01715	.	.	0.0666544352282	0.05500	0.10813125051761875	0.10742	.	.	0.301112771034	0.10566	T	0.038342	0.24807	T	-0.60264	0.00141	T	-0.668506	0.07704	T	0.00890760338183509	0.00111	T	.	.	.	0.033103418	0.03464	0.04666248	0.06552	0.03027777	0.02663	0.046069797	0.06338	-6.149	0.49587	T	.	.	0.071	0.04041	B	.;.;.;.;.	.;.;.;.;.	-0.888746	0.00944	0.036	0.15403906447541041	0.00375	0.02540	0.07059	N	AEFDBCI	0.045511	0.07451	N	-2.16966490958107	0.00090	0.003832085	-2.17309161829622	0.00129	0.00565431	0.999999981858464	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.463624	0.06942	0	0.613276	0.41899	0	.	.	4.98	-8.22	0.00910	-0.767000	0.04826	0.122000	0.14930	-0.957000	0.01998	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1356:0.305:0.0816:0.4778	3.155	0.06112	679	0.60090	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.007553	0.000000	0.012228	0.005848	0.000000	0.000000	0.009146	0.003788	0.07143	676.49	68	chr16	71069386	.	G	A	676.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.761;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=45.67;MQRankSum=-4.689;QD=9.95;ReadPosRankSum=0.767;SOR=0.709	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	6	0	1	0
chr16	71569913	71569913	C	T	exonic	TAT	.	nonsynonymous SNV	TAT:NM_000353:exon10:c.G1066A:p.A356T	Tyrosinemia, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.0355431635268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.664	0.04643	T	0.609	0.07716	T	0.001	0.07471	B	0.003	0.08700	B	0.000027	0.55875	D	0.158249	0.732636	0.29814	N	0.55	0.14455	N	-2.77	0.90904	D	-0.48	0.15379	N	0.289	0.32701	-0.5991	0.64854	T	0.395	0.74786	T	10	0.22476733	0.39289	T	0.035543	0.56416	D	0.272	0.58758	0.418	0.45873	0.894042584955	0.89299	0.5798313064803486	0.57912	0.243833454048	0.26889	0.388646960258	0.23479	T	0.278332	0.65098	T	-0.0698221	0.41355	T	-0.338071	0.40563	T	0.516282856464386	0.33228	D	0.781022	0.41604	T	0.25357735	0.48380	0.12848926	0.30912	0.25357735	0.48380	0.12848926	0.30911	-5.363	0.40562	T	0.1217207344666142	0.11582	0.086	0.10449	B	.	.	2.243163	0.28645	17.87	0.7648299815947891	0.11486	0.81630	0.40995	D	AEFBI	0.394221	0.47156	N	-0.625886876950521	0.18170	0.9411588	-0.460062496220224	0.23263	1.26777	0.997894925391308	0.36162	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.69	3.75	0.42236	2.582000	0.45751	2.746000	0.34499	0.599000	0.40250	0.993000	0.37899	0.999000	0.35428	0.839000	0.39591	0.0:0.7868:0.0:0.2132	9.546	0.38444	180	0.92993	Aminotransferase, class I/classII	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1015.49	35	chr16	71569913	.	C	T	1015.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.256;DP=271;ExcessHet=0;FS=1.766;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-0.036;SOR=0.958	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1313	6	0	1	0
chr16	71634538	71634538	-	G	exonic	MARVELD3	.	frameshift insertion	MARVELD3:NM_052858:exon3:c.942dupG:p.Y317Vfs*22	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0008	8.645e-05	0.0001	0	0.0005	0	0	3.84e-05	1	26028	rs747980715	2.121e-05	5.062e-05	2.042e-05	2.2e-05	8.961e-05	1.52e-05	1.324e-05	2.375e-05	1.258e-05	8.961e-05	2.236e-05	3.826e-05	2.519e-05	9.378e-05	0	1.349e-05	4.967e-05	2.319e-05	3.285e-05	3.281e-05	5.141e-05	1.344e-05	0.0002	1.261e-05	7.98e-06	7.98e-06	2.99e-06	4.815e-05	0	0	0	0.0002	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001511	0.000000	0.002717	0.002924	0.000000	0.017241	0.000000	0.000000	0.07143	2149.45	34	chr16	71634538	.	C	CG	2149.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.177;DP=357;ExcessHet=0;FS=5.51;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.977;SOR=0.638	GT:AD:DP:GQ:PL	0/1:79,87:166:99:2160,0,1903	6	0	1	0
chr16	72811612	72811612	C	T	exonic	ZFHX3	.	nonsynonymous SNV	ZFHX3:NM_001164766:exon6:c.G1087A:p.V363M,ZFHX3:NM_006885:exon7:c.G3829A:p.V1277M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.593	0.126351335839	.	.	8.826e-06	0	0	0	0	1.55e-05	0	0	6.5e-06	1	154602	rs750527365	2.745e-06	2.736e-06	1.364e-06	4.142e-06	2.704e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.704e-06	1.661e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000397	0.44960	D	0.000000	1	0.81001	D	2.49	0.72568	M	-1.24	0.78967	T	-2.61	0.56144	D	0.702	0.71055	0.201	0.85927	D	0.598	0.85661	D	10	0.7696519	0.76979	D	0.126351	0.80800	D	0.593	0.83802	0.463	0.53242	0.473786764527	0.47009	0.36793901568997306	0.36707	0.423927710588	0.42835	0.900854289532	0.96535	D	0.356367	0.72323	T	0.215761	0.75374	D	0.0876347	0.76087	D	0.969671845436096	0.68674	D	0.976402	0.94055	D	0.41208783	0.61561	0.46056476	0.68670	0.41208783	0.61562	0.46056476	0.68670	-7.59	0.60865	D	.	.	0.993	0.94731	P	.;.;.	.;.;.	5.418400	0.90661	31	0.99795513063953045	0.88106	0.98438	0.82779	D	AEFBHI	0.863471	0.78201	D	0.832970597920869	0.88118	9.459859	0.840224646187193	0.92432	11.42295	0.999999999999953	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.565031	0.19037	0	0.635551	0.53088	0	.	.	5.67	5.67	0.87673	7.905000	0.86479	7.680000	0.65243	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.722	0.96142	158	0.93861	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	414.45	29	chr16	72811612	.	C	T	414.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.28;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-0.461;SOR=0.741	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	6	0	1	0
chr16	75451727	75451727	C	T	exonic	TMEM170A	.	nonsynonymous SNV	TMEM170A:NM_001304997:exon2:c.G132A:p.M44I,TMEM170A:NM_145254:exon2:c.G246A:p.M82I	.	422	1086	13	1	0	15	0.00685871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.0649908456121	0.0033	0.00159744	0.0040	0.0008	0.0019	0.0001	0.0014	0.0056	0.0011	0.0044	0.0041009	634	154602	rs117792763	0.0058	0.0058	0.0059	0.0057	0.0067	0.0057	0.0057	0.0066	0.0065	0.0007	0.0020	0.0049	7.557e-05	0.0023	0.0019	0.0067	0.0055	0.0039	0.0036	0.0036	0.0040	0.0032	0.0062	0.0034	0.0033	0.0057	0.0055	0.0012	0	0.0016	0.0046	0.0002	0.0023	0	0.0062	0.0014	0.0029	0.771	0.04134	T	0.455	0.23984	T	0.152	0.31683	B	0.07	0.32546	B	0.000000	0.84330	D	0.113004	0.99928	0.81001	D	0.69	0.16971	N	-4.45	0.97538	D	0.27	0.04306	N	0.713	0.74553	-0.9980	0.30479	T	0.109	0.39344	T	9	0.012007415	0.00260	T	0.064991	0.69445	D	.	.	0.619	0.75347	0.565096191312	0.56172	0.6930831371397005	0.69248	0.167335244816	0.18878	0.74171423912	0.73225	T	0.003872	0.04495	T	0.062117	0.59878	T	0.320176	0.89098	D	0.0175781595007979	0.00492	T	0.850615	0.58386	D	0.23506612	0.46337	0.16372804	0.37966	0.23506612	0.46337	0.16372804	0.37965	-1.95	0.02998	T	.	.	0.584	0.75723	P	.;.;.;.	.;.;.;.	2.815142	0.37074	20.4	0.97274973993824909	0.33153	0.96457	0.69234	D	AEFDBI	0.653981	0.62682	D	-0.0685895011474877	0.38777	2.276318	0.16972018607329	0.48195	3.038872	0.999934708669003	0.46732	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.82	5.82	0.92740	4.555000	0.60477	5.950000	0.51632	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	17.587	0.87882	644	0.63734	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.002717	0.002924	0.000000	0.000000	0.009146	0.003788	0.07143	794.44	33	chr16	75451727	.	C	T	794.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.284;DP=255;ExcessHet=0;FS=3.049;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=0.06;SOR=0.595	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1313	6	0	1	0
chr16	77319905	77319905	T	G	exonic	ADAMTS18	.	nonsynonymous SNV	ADAMTS18:NM_001326358:exon16:c.A1960C:p.N654H,ADAMTS18:NM_199355:exon16:c.A2476C:p.N826H	Microcornea, myopic chorioretinal atrophy, and telecanthus, Autosomal recessive	1	1452	66	3	0	72	0.0241935	.	.	.	1157850	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.154	.	0.0008	0.00519169	0.0045	0.0003	0.0010	0.0001	0.0053	0.0016	0.0033	0.0236	0.003978	615	154602	rs143047414	0.0026	0.0026	0.0018	0.0034	0.0254	0.0025	0.0025	0.0245	0.0242	0.0003	0.0007	0.0083	5.038e-05	0.0043	0.0163	0.0008	0.0029	0.0254	0.0018	0.0018	0.0013	0.0024	0.0232	0.0017	0.0016	0.0197	0.0184	9.626e-05	0	0.0009	0.0069	0.0004	0.0047	0.0102	0.0010	0.0028	0.0232	0.051	0.39334	T	0.091	0.40110	T	0.603	0.39389	P	0.275	0.40079	B	0.000259	0.46924	N	0.216159	0.992794	0.41745	D	2.33	0.66821	M	0.67	0.52187	T	-2.72	0.57920	D	0.376	0.41754	-0.9297	0.44183	T	0.133	0.44504	T	10	0.004567474	0.00095	T	.	.	.	0.154	0.40340	.	.	0.584023569625	0.58075	0.5169625543263867	0.51619	.	.	0.371716141701	0.21078	T	0.093123	0.39147	T	-0.511234	0.00494	T	-0.488205	0.23578	T	0.04476698695772	0.04559	T	0.680232	0.28883	T	0.16513127	0.36765	0.12808686	0.30822	0.16513127	0.36765	0.12808686	0.30821	-4.831	0.34951	T	.	.	0.067	0.02458	B	.	.	2.067435	0.26289	17.07	0.99152019088237753	0.53848	0.88569	0.48558	D	AEFDBI	0.308398	0.41500	N	-0.0971111787511456	0.37519	2.183957	-0.094354553607333	0.35622	2.063184	0.335326949362916	0.19528	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.54	3.1	0.34780	1.538000	0.35700	2.242000	0.31619	-0.115000	0.14600	0.999000	0.42656	0.999000	0.35428	0.803000	0.37862	0.14:0.0:0.2906:0.5694	6.986	0.23909	771	0.49057	ADAM-TS Spacer 1	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011581	0.000000	0.010870	0.020468	0.000000	0.008621	0.018293	0.022727	0.1429	1872.44	34	chr16	77319905	.	T	G	1872.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.49;DP=316;ExcessHet=0.3476;FS=2.737;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.266;SOR=0.498	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1268	5	0	2	0
chr16	78022661	78022661	T	G	exonic	CLEC3A	.	nonsynonymous SNV	CLEC3A:NM_005752:exon1:c.T35G:p.V12G	.	434	1082	4	2	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.0158925621706	.	.	0.0001	0	8.673e-05	0	0	3.002e-05	0.0011	0.0007	9.7e-05	15	154602	rs760496672	9.166e-05	9.166e-05	6.806e-05	0.0001	0.0009	7.89e-05	7.365e-05	0.0007	0.0007	0	0	3.826e-05	0	1.872e-05	0.0002	4.406e-05	6.623e-05	0.0009	4.598e-05	4.593e-05	1.285e-05	8.06e-05	0.0010	2.108e-05	1.526e-05	0.0004	0.0003	0	0	0	0	0	0	0	2.94e-05	0	0.0010	.	.	.	0.036	0.52060	D	.	.	.	.	.	.	0.010079	0.30079	N	0.289408	0.999197	0.46300	D	.	.	.	3.04	0.08810	T	.	.	.	0.44	0.47857	-0.9799	0.35025	T	0.130	0.43968	T	9	0.06961158	0.10013	T	0.015893	0.36869	T	0.099	0.28413	.	.	0.18995819373	0.18626	.	.	0.00224187038655	0.00188	0.383359611034	0.22732	T	.	.	.	-0.369609	0.03614	T	-0.397609	0.33663	T	0.335046827793121	0.26427	T	0.505449	0.15971	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.069941	0.60461	24.2	0.99240312211607939	0.56533	0.95699	0.65780	D	AEFDBI	0.557926	0.56735	D	-0.0565258205195075	0.39311	2.316164	0.111590079757284	0.45140	2.782553	0.920310567306153	0.26628	0.553676	0.25195	0	0.573888	0.26702	0	0.596394	0.31383	0	0.620846	0.47308	0	.	.	5.71	4.6	0.56512	5.256000	0.65286	7.877000	0.72286	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.1314:0.0:0.0:0.8686	11.830	0.51565	853	0.34956	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	704.63	57	chr16	78022661	.	T	G	704.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.98;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=1.51;SOR=0.765	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1234	6	0	1	0
chr16	79599202	79599207	CCGCCG	-	exonic	MAF	.	nonframeshift deletion	MAF:NM_001031804:exon1:c.696_701del:p.G237_G238del,MAF:NM_005360:exon1:c.696_701del:p.G237_G238del	Ayme-Gripp syndrome, Autosomal dominant;Cataract 21, multiple types, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3107125	Cataract_21_multiple_types|Ayme-Gripp_syndrome	MONDO:MONDO:0012437,MedGen:C1857768,OMIM:610202,Orphanet:91492|MONDO:MONDO:0010992,MedGen:C1832812,OMIM:601088	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1047494066	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0012	0.0010	0.0006	0	0	0.0005	0	0	0.0002	0.0004	0.0017	0.0002	0.0002	0.0001	0.0003	0.0017	0.0001	0.0001	0.0008	0.0006	0.0001	0	6.865e-05	0	0	0.0001	0	0.0002	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	241.21	8	chr16	79599201	.	TCCGCCG	T	241.21	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.366;DP=84;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=34.46;ReadPosRankSum=1.47;SOR=2.584	GT:AD:DP:GQ:PL	0/0:25,0:25:40:0,40,731	4	0	1	2
chr16	80684648	80684648	T	G	exonic	CDYL2	.	nonsynonymous SNV	CDYL2:NM_152342:exon2:c.A506C:p.H169P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0116786850524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.722e-06	1.375e-06	8.993e-07	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	8.993e-07	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.15303	T	0.215	0.26306	T	0.752	0.43309	P	0.326	0.41929	B	0.688412	0.10197	N	0.859381	0.998797	0.45457	D	0.345	0.11182	N	0.46	0.56281	T	-0.18	0.09796	N	0.216	0.24135	-1.0999	0.04103	T	0.098	0.36625	T	10	0.13853115	0.26346	T	0.011679	0.29546	T	.	.	0.177	0.08379	0.321697908245	0.31786	0.5059006266178727	0.50512	0.246319457913	0.27172	0.389248669147	0.23564	T	0.028806	0.20781	T	-0.112339	0.34382	T	-0.399143	0.33485	T	0.222069900857105	0.21567	T	0.692631	0.30204	T	0.13735226	0.31805	0.13503084	0.32341	0.13735226	0.31805	0.13503084	0.32340	-2.566	0.06249	T	.	.	0.069	0.10159	B	.;.;.;.	.;.;.;.	1.810221	0.23007	15.85	0.92004796396260091	0.21340	0.74291	0.36341	D	AEFDBI	0.327233	0.42826	N	-0.19894348990717	0.33177	1.879412	-0.132861372809664	0.34075	1.95603	0.969360341441958	0.29123	0.706548	0.73137	0	0.633656	0.55848	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.14	1.45	0.21708	1.465000	0.34909	1.563000	0.27369	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.4093:0.5907	12.296	0.54167	952	0.10565	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1737.44	35	chr16	80684648	.	T	G	1737.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.7;DP=380;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=-1.212;SOR=0.658	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1197	6	0	1	0
chr16	81041422	81041422	A	G	exonic	ATMIN	.	nonsynonymous SNV	ATMIN:NM_015251:exon2:c.A403G:p.I135V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.0134874410761	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs556413183	4.789e-06	4.788e-06	5.445e-06	4.125e-06	6.295e-06	1.99e-06	1.28e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.295e-06	0	0	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	2.406e-05	0	0	0	0.0002	0	0	0	0	0	0.08	0.33585	T	0.0	0.92824	D	0.905	0.49920	P	0.545	0.49043	P	0.000001	0.84330	D	0.052644	0.999605	0.81001	D	0.205	0.09354	N	1.48	0.31731	T	-0.06	0.07882	N	0.578	0.59986	-1.1205	0.02300	T	0.073	0.29707	T	10	0.25182837	0.42528	T	0.013487	0.32933	T	0.111	0.31313	0.361	0.36548	0.245660935333	0.24156	0.3145590984357124	0.31368	0.0538255850715	0.05943	0.500732541084	0.38931	T	0.051068	0.28774	T	-0.0804143	0.39648	T	-0.353286	0.38830	T	0.509127875010157	0.32965	D	0.824917	0.48720	T	0.060648933	0.12468	0.09495779	0.22500	0.060648933	0.12468	0.09495779	0.22500	-5.541	0.42250	T	.	.	0.105	0.19154	B	.	.	3.462982	0.48278	22.6	0.99680999361147193	0.79241	0.97756	0.76905	D	AEFDBI	0.623745	0.60758	D	0.369587586791882	0.59780	4.160456	0.455400033789947	0.65066	4.776772	0.992263323516079	0.32778	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	6.294000	0.72722	8.067000	0.76424	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.854000	0.40426	1.0:0.0:0.0:0.0	15.908	0.79230	695	0.58372	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	461.27	34	chr16	81041422	.	A	G	461.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.59;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.366;SOR=0.693	GT:AD:DP:GQ:PL	0/1:20,20:40:99:471,0,408	5	0	1	1
chr16	81117404	81117404	C	G	exonic	PKD1L2	.	unknown	UNKNOWN	.	428	1056	37	1	0	39	0.0181311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.00119808	0.0022	0	0.0003	0	0.0003	0.0008	0.0067	0.0121	0.0018176	281	154602	rs201624580	0.0012	0.0012	0.0008	0.0017	0.0126	0.0012	0.0012	0.0119	0.0117	0.0002	0.0002	7.66e-05	5.039e-05	0.0003	0.0045	0.0005	0.0014	0.0126	0.0007	0.0007	0.0006	0.0008	0.0087	0.0006	0.0005	0.0066	0.0059	0.0001	0	0.0002	0	0.0008	0	0	0.0007	0.0014	0.0087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.004076	0.008772	0.000000	0.000000	0.015244	0.011364	0.1429	66.0	34	chr16	81117404	.	C	G	66.0	.	AC=2;AF=0.143;AN=14;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=22;SOR=1.179	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1052	6	1	0	0
chr16	81147488	81147488	G	T	exonic	PKD1L2	.	unknown	UNKNOWN	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.298e-06	0	0	0	0	0	0	6.065e-05	6.5e-06	1	154602	rs763231653	1.368e-06	1.368e-06	0	2.751e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.994e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1226.53	34	chr16	81147488	.	G	T	1226.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.04;DP=311;ExcessHet=0;FS=5.225;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.139;SOR=1.105	GT:AD:DP:GQ:PL	0/0:64,0:64:99:0,120,1800	6	0	1	0
chr16	81159780	81159780	C	T	exonic	PKD1L2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.373e-06	1.368e-06	2.729e-06	0	1.802e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.802e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	165.19	34	chr16	81159780	.	C	T	165.19	.	AC=2;AF=0.143;AN=14;DP=321;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=23.6;SOR=0.941	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	6	1	0	0
chr16	81160798	81160798	C	-	exonic	PKD1L2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.491e-05	0.0003	0	0	0	0	0	0	1.94e-05	3	154602	rs768091412	7.526e-06	7.525e-06	8.168e-06	6.877e-06	0.0003	4.04e-06	2.95e-06	0.0002	0.0001	0.0003	2.236e-05	0	0	0	0	0	0	0	9.859e-05	9.851e-05	8.995e-05	0.0001	0.0004	6.008e-05	4.881e-05	0.0002	0.0002	0.0004	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	31.4	37	chr16	81160797	.	TC	T	31.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.282;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.49;ReadPosRankSum=-1.085;SOR=0.495	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,108,1620	6	0	1	0
chr16	81165870	81165870	C	T	exonic	PKD1L2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	610.49	61	chr16	81165870	.	C	T	610.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.559;DP=339;ExcessHet=0;FS=0.968;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=1.52;SOR=0.551	GT:AD:DP:GQ:PL	0/0:91,0:91:99:0,120,1800	6	0	1	0
chr16	81177906	81177906	T	C	exonic	PKD1L2	.	nonsynonymous SNV	PKD1L2:NM_001278423:exon3:c.A283G:p.I95V,PKD1L2:NM_001076780:exon14:c.A2338G:p.I780V	.	433	1088	1	0	0	1	0.000459348	.	.	.	3365363	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.016	0.0105534396613	.	.	0.0001	0	0	0	0	0	0	0.0009	9.7e-05	15	154602	rs752504784	5.063e-05	5.13e-05	2.587e-05	7.564e-05	0.0008	4.126e-05	3.779e-05	0.0007	0.0006	0	0	0	0	0	0	1.799e-06	1.656e-05	0.0008	1.972e-05	1.969e-05	0	4.034e-05	0.0006	5.24e-06	2.45e-06	0.0002	9e-05	0	0	0	0	0	0	0	0	0	0.0006	.	.	.	.	.	.	0.037	0.20876	B	0.022	0.19653	B	0.001768	0.38052	N	0.222054	1	0.08975	N	.	.	.	-0.17	0.65563	T	-0.22	0.13035	N	0.165	0.17416	-1.0007	0.29717	T	0.084	0.32872	T	9	0.029973447	0.01124	T	0.010553	0.27217	T	0.040	0.10527	.	.	0.254244900254	0.25046	.	.	.	.	0.249912381172	0.03759	T	.	.	.	-0.492526	0.00629	T	-0.549079	0.17414	T	0.0423254333436489	0.04114	T	0.532447	0.17709	T	.	.	.	.	.	.	.	.	-2.241	0.04244	T	.	.	0.071	0.03925	B	.;.	.;.	-0.232869	0.02928	0.427	0.27104388465219731	0.01330	0.03758	0.09067	N	AEFDBHCI	0.046001	0.07588	N	-0.828719661248419	0.12579	0.6140746	-0.968493874333777	0.10498	0.5290797	0.971467274789368	0.29289	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.89	0.204	0.14476	0.167000	0.16419	-0.490000	0.08866	-0.683000	0.04200	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.3254:0.0:0.6746	8.445	0.31998	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	1142.53	38	chr16	81177906	.	T	C	1142.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.789;DP=499;ExcessHet=0;FS=3.227;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.66;ReadPosRankSum=-0.978;SOR=1.036	GT:AD:DP:GQ:PL	0/0:133,0:133:99:0,120,1800	6	0	1	0
chr16	81377486	81377486	C	G	exonic	GAN	.	nonsynonymous SNV	GAN:NM_001377486:exon10:c.C1045G:p.P349A,GAN:NM_022041:exon11:c.C1684G:p.P562A	Giant axonal neuropathy-1, Autosomal recessive	0	1494	28	0	0	28	0.00928382	.	.	.	361521	Giant_axonal_neuropathy_1|GAN-related_disorder|not_provided	MONDO:MONDO:0009749,MedGen:C1850386,OMIM:256850,Orphanet:643|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.383	.	0.0034	0.00179712	0.0049	0.0008	0.0014	0	0.0113	0.0065	0.0044	0.0035	0.0046442	718	154602	rs79901179	0.0048	0.0048	0.0048	0.0048	0.0062	0.0047	0.0047	0.0050	0.0050	0.0006	0.0022	0.0052	0	0.0103	0.0062	0.0051	0.0034	0.0038	0.0038	0.0038	0.0041	0.0034	0.0056	0.0035	0.0034	0.0051	0.0049	0.0008	0	0.0018	0.0084	0	0.0083	0.0034	0.0056	0.0038	0.0023	.	.	.	0.266	0.22627	T	0.176	0.28893	B	0.039	0.23607	B	0.000000	0.84330	D	0.050138	0.999999	0.58761	D	0.805	0.20218	L	.	.	.	.	.	.	0.73	0.73105	-0.8091	0.54605	T	0.187	0.53691	T	10	0.010434002	0.00232	T	.	.	.	.	.	.	.	0.830301154916	0.82869	0.4923228135391192	0.49153	0.224810610211	0.25013	0.801771640778	0.82233	T	0.301873	0.67430	T	-0.111469	0.34527	T	0.0697175	0.74891	D	0.0124614641107791	0.00205	T	0.840716	0.51609	T	0.3801071	0.59324	0.31527206	0.57514	0.3453919	0.56706	0.29977193	0.56010	-6.424	0.49696	T	.	.	0.086	0.10594	B	.;.	.;.	3.943882	0.57728	23.9	0.98831565015238332	0.46969	0.98908	0.88470	D	AEFBI	0.559081	0.56804	D	-0.120362037651773	0.36506	2.111105	0.0445601467208831	0.41809	2.518089	0.999999999978716	0.74766	0.729952	0.87565	0	0.653731	0.59785	0	0.575934	0.27490	0	0.692231	0.68500	0	.	.	5.52	5.52	0.82153	6.082000	0.70966	7.704000	0.66446	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.430	0.94750	838	0.37812	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	2368.44	33	chr16	81377486	.	C	G	2368.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.4;DP=388;ExcessHet=0;FS=0.513;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=0.304;SOR=0.643	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1275	6	0	1	0
chr16	84179833	84179833	G	A	exonic	TAF1C	.	nonsynonymous SNV	TAF1C:NM_001243158:exon11:c.C722T:p.P241L,TAF1C:NM_001243157:exon12:c.C722T:p.P241L,TAF1C:NM_001243160:exon12:c.C287T:p.P96L,TAF1C:NM_001243159:exon14:c.C491T:p.P164L,TAF1C:NM_005679:exon14:c.C1718T:p.P573L,TAF1C:NM_001243156:exon15:c.C1640T:p.P547L,TAF1C:NM_139353:exon15:c.C1436T:p.P479L	.	416	1097	9	0	0	9	0.00408534	.	.	.	2817855	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.058	.	0.0035	0.00139776	0.0077	0.0015	0.0023	0.0006	0.0239	0.0095	0.0171	0.0052	0.0062612	968	154602	rs4150170	0.0054	0.0054	0.0052	0.0056	0.0055	0.0053	0.0052	0.0051	0.0050	0.0005	0.0023	0.0022	0.0005	0.0237	0.0044	0.0050	0.0053	0.0055	0.0056	0.0056	0.0051	0.0061	0.0071	0.0053	0.0051	0.0066	0.0063	0.0008	0	0.0018	0.0023	0.0015	0.0237	0.0034	0.0071	0.0057	0.0052	0.059	0.42199	T	0.0	0.92824	D	0.078	0.38813	B	0.017	0.27432	B	0.545382	0.11492	N	0.774100	1	0.08975	N	1.485	0.37223	L	3.75	0.04353	T	-3.28	0.66780	D	0.099	0.17416	-0.9937	0.31643	T	0.008	0.02720	T	10	0.00414899	0.00082	T	.	.	.	0.058	0.16647	.	.	0.117506650769	0.11410	0.38900047711126	0.38815	.	.	0.300978392363	0.10547	T	0.045488	0.27138	T	-0.568828	0.00225	T	-0.580464	0.14503	T	0.0121725571878287	0.00195	T	0.648035	0.26482	T	0.049583632	0.08826	0.061728124	0.11965	0.049583632	0.08825	0.061728124	0.11964	-3.742	0.22318	T	.	.	0.105	0.27009	B	.;.;.;.;.	.;.;.;.;.	0.347355	0.07205	3.799	0.94016999106735766	0.24121	0.10020	0.15639	N	AEFDBCI	0.111364	0.22051	N	-0.937523859348915	0.09975	0.4745129	-1.0976990800297	0.07745	0.3779705	0.999996643888924	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	1.44	-0.109	0.12922	-0.816000	0.04583	-0.103000	0.11918	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.4184:0.5815:0.0	4.562	0.11562	735	0.53711	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006559	0.010204	0.001359	0.002924	0.000000	0.000000	0.018405	0.011364	0.07143	1677.63	50	chr16	84179833	.	G	A	1677.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.231;DP=477;ExcessHet=0;FS=2.8;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.64;ReadPosRankSum=-1.296;SOR=0.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:98,0:98:99:.:.:0,120,1800:.	6	0	1	0
chr16	84196144	84196144	C	T	exonic	ADAD2	.	nonsynonymous SNV	ADAD2:NM_001145400:exon8:c.C1300T:p.P434S,ADAD2:NM_139174:exon9:c.C1546T:p.P516S	.	390	1131	1	0	0	1	0.000441891	.	.	.	2290424	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.429	0.0917729081206	.	.	1.673e-05	0	0.0002	0	0	0	0	0	1.94e-05	3	154602	rs369532147	2.755e-06	4.788e-06	5.486e-06	0	6.711e-05	6.5e-07	4.4e-07	1.78e-05	8.93e-06	0	6.711e-05	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.15717	T	0.02	0.58613	D	0.291	0.42542	B	0.132	0.41250	B	0.185329	0.16992	N	0.582799	0.597068	0.30971	N	2.295	0.65404	M	-3.17	0.93054	D	-0.91	0.24460	N	0.428	0.46928	0.155	0.85147	D	0.673	0.88692	D	10	0.26264876	0.43735	T	0.091773	0.75768	D	0.429	0.73590	0.435	0.48664	0.66976639498	0.66698	0.2174476087190809	0.21660	.	.	0.339329957962	0.16338	T	0.088617	0.38197	T	-0.0533524	0.43937	T	-0.117442	0.62011	T	0.247386112809181	0.22756	T	0.792821	0.43457	T	0.07404175	0.16588	0.088607095	0.20670	0.07404175	0.16587	0.088607095	0.20670	-3.327	0.19141	T	.	.	0.164	0.36275	B	.;.	.;.	1.840472	0.23383	16.00	0.88910741904386115	0.18355	0.23662	0.22148	N	AEFDBCI	0.166340	0.29292	N	-0.459209143372134	0.23428	1.258102	-0.465264323857694	0.23117	1.25903	0.999999982352232	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.16	4.21	0.48984	0.671000	0.24853	4.846000	0.45329	0.596000	0.33519	0.013000	0.18845	0.995000	0.32472	0.013000	0.09966	0.179:0.821:0.0:0.0	11.525	0.49825	759	0.50631	.;Adenosine deaminase/editase|Adenosine deaminase/editase|Adenosine deaminase/editase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	654.46	33	chr16	84196144	.	C	T	654.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.673;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=1.4;SOR=0.716	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	6	0	1	0
chr16	84439206	84439206	G	A	exonic	ATP2C2	.	nonsynonymous SNV	ATP2C2:NM_001291454:exon9:c.G574A:p.V192I,ATP2C2:NM_001286527:exon12:c.G1027A:p.V343I,ATP2C2:NM_014861:exon12:c.G1027A:p.V343I	.	.	.	.	.	.	.	.	.	.	.	2343888	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.641	0.0652580014276	0.0002	.	4.14e-05	0.0001	8.639e-05	0	0	4.495e-05	0	0	3.88e-05	6	154602	rs374715934	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	5.986e-05	2.236e-05	0	0	0	0	0.0003	4.981e-05	2.321e-05	5.258e-05	5.254e-05	6.423e-05	4.037e-05	0.0001	2.558e-05	1.83e-05	4.764e-05	3.338e-05	2.414e-05	0	0	0	0	0	0	0.0001	0	0	0.002	0.78490	D	0.005	0.74150	D	0.998	0.73220	D	0.942	0.67772	D	0.000428	0.44522	D	0.095162	0.999984	0.54805	D	2.015	0.55033	M	-2.91	0.91696	D	-0.97	0.25770	N	0.774	0.77132	0.872	0.95296	D	0.853	0.95108	D	10	0.82159686	0.81361	D	0.065258	0.69526	D	0.641	0.86333	.	.	0.716981834949	0.71449	0.6680263956578496	0.66740	.	.	0.578524708748	0.49877	T	0.228179	0.59366	T	-0.0128655	0.49863	T	-0.0195883	0.69055	D	0.453732490539551	0.30934	T	0.982102	0.93912	D	0.13799131	0.31931	0.31071004	0.57080	0.13799131	0.31931	0.31071004	0.57080	-8.056	0.61452	D	0.4758813466803184	0.55546	0.156	0.39425	B	.;.	.;.	4.220750	0.63840	24.6	0.99866993893237399	0.94457	0.98241	0.80848	D	AEFDBI	0.854810	0.77187	D	0.624090562262449	0.74701	6.177621	0.527857149574779	0.69870	5.422712	0.99999998434835	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.75	4.75	0.59954	9.355000	0.96491	11.831000	0.97525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.558000	0.30364	0.0:0.0:1.0:0.0	16.726	0.85282	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1434.53	36	chr16	84439206	.	G	A	1434.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.06;DP=290;ExcessHet=0;FS=5.163;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=-0.049;SOR=1.278	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1441	6	0	1	0
chr16	84439475	84439475	A	G	exonic	ATP2C2	.	nonsynonymous SNV	ATP2C2:NM_001291454:exon10:c.A707G:p.N236S,ATP2C2:NM_001286527:exon13:c.A1160G:p.N387S,ATP2C2:NM_014861:exon13:c.A1160G:p.N387S	.	434	1078	10	0	0	10	0.00461681	.	.	.	3213947	ATP2C2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.579	0.148471823982	0.0003	0.000399361	0.0005	0.0001	0.0002	0	0	0.0007	0.0011	0.0008	0.0005498	85	154602	rs200192229	0.0007	0.0007	0.0007	0.0007	0.0008	0.0006	0.0006	0.0006	0.0006	8.961e-05	0.0007	0.0049	0	1.872e-05	0.0007	0.0006	0.0011	0.0008	0.0006	0.0006	0.0006	0.0006	0.0014	0.0005	0.0005	0.0009	0.0008	0.0002	0	0.0014	0.0046	0	0	0	0.0007	0.0019	0.0002	0.001	0.78490	D	0.009	0.66756	D	1.0	0.90584	D	1.0	0.97372	D	0.000056	0.53742	D	0.076072	0.999037	0.45921	D	3.29	0.90338	M	-1.04	0.76561	T	-4.86	0.81187	D	0.89	0.89242	0.472	0.90145	D	0.694	0.89437	D	10	0.17317587	0.32130	T	0.148472	0.83039	D	0.579	0.83024	.	.	0.56369308836	0.56033	0.8301570809571298	0.82974	.	.	0.664507508278	0.62054	T	0.664919	0.89988	D	-0.199344	0.20898	T	-0.148275	0.59397	T	0.288498282432556	0.24527	T	0.994101	0.98044	D	0.20973328	0.43249	0.27924207	0.53891	0.20973328	0.43249	0.27924207	0.53890	-8.962	0.67452	D	0.7190167671081512	0.79996	0.116	0.29032	B	.;.	.;.	4.928108	0.81231	27.5	0.99642906991834945	0.76756	0.97982	0.78620	D	AEFDBIJ	0.861602	0.77971	D	0.483337476998605	0.66117	4.908836	0.340607255571958	0.57945	3.962281	0.99961679670128	0.40981	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.91	3.8	0.42887	8.488000	0.90299	11.215000	0.89546	-0.083000	0.16234	1.000000	0.71638	1.000000	0.68203	0.328000	0.25156	0.8443:0.1557:0.0:0.0	11.076	0.47248	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.07143	1371.46	120	chr16	84439475	.	A	G	1371.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.819;DP=692;ExcessHet=0;FS=3.3;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-1.14;SOR=1.004	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	6	0	1	0
chr16	84448627	84448627	C	T	exonic	ATP2C2	.	nonsynonymous SNV	ATP2C2:NM_001291454:exon14:c.C1145T:p.T382M,ATP2C2:NM_001286527:exon17:c.C1598T:p.T533M,ATP2C2:NM_014861:exon17:c.C1598T:p.T533M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	0.276945871313	.	0.000199681	3.317e-05	0	8.639e-05	0	0.0002	2.999e-05	0	0	3.23e-05	5	154602	rs570621282	1.916e-05	1.984e-05	2.042e-05	1.788e-05	5.8e-05	1.328e-05	1.144e-05	2.195e-05	1.43e-05	0	2.238e-05	0	0	0	0	1.889e-05	1.656e-05	5.8e-05	3.938e-05	3.937e-05	6.423e-05	1.342e-05	7.214e-05	1.714e-05	1.128e-05	1.913e-05	1.03e-05	7.214e-05	0	6.533e-05	0	0	9.414e-05	0	1.47e-05	0	0	0.004	0.68238	D	0.016	0.60972	D	0.999	0.77913	D	0.973	0.72923	D	0.000001	0.62929	D	0.000000	0.994575	0.42334	D	3.295	0.90403	M	-0.71	0.72889	T	-4.43	0.77554	D	0.609	0.62611	0.311	0.87729	D	0.573	0.84581	D	10	0.6415654	0.69087	D	0.276946	0.90090	D	0.437	0.74164	0.456	0.52102	0.694938350158	0.69231	0.6508435185510845	0.65020	.	.	0.43711322546	0.30182	T	0.656224	0.89627	D	-0.0278209	0.47734	T	-0.194874	0.55130	T	0.958822309970856	0.65372	D	0.977902	0.92224	D	0.61632663	0.73566	0.51610065	0.72040	0.61632663	0.73568	0.51610065	0.72041	-8.738	0.66400	D	0.4760362501716501	0.55559	0.107	0.22135	B	.;.	.;.	4.762822	0.77023	26.6	0.99897468465129902	0.96971	0.84701	0.43787	D	AEFBI	0.217209	0.34236	N	0.595305707494703	0.72882	5.87601	0.511490082749533	0.68763	5.265036	0.125569840140369	0.16981	0.57788	0.32782	0	0.573888	0.26702	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	4.99	4.99	0.65942	1.638000	0.36780	4.893000	0.45784	0.599000	0.40250	0.790000	0.29595	1.000000	0.68203	0.589000	0.31115	0.0:1.0:0.0:0.0	17.256	0.86941	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	273.45	34	chr16	84448627	.	C	T	273.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.812;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.88;ReadPosRankSum=-1.908;SOR=0.653	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr16	84461804	84461804	C	T	exonic	ATP2C2	.	nonsynonymous SNV	ATP2C2:NM_001291454:exon22:c.C2119T:p.R707C,ATP2C2:NM_014861:exon25:c.C2572T:p.R858C,ATP2C2:NM_001286527:exon26:c.C2659T:p.R887C	.	420	1100	2	0	0	2	0.000908265	.	.	.	2210800	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.963	0.278304235263	7.9e-05	0.000199681	4.14e-05	0.0001	0	0.0002	0	1.499e-05	0	6.057e-05	3.88e-05	6	154602	rs376413422	2.189e-05	2.189e-05	2.451e-05	1.925e-05	0.0002	1.584e-05	1.356e-05	7.713e-05	5.306e-05	0.0002	4.472e-05	0	5.038e-05	0	0.0002	1.619e-05	4.967e-05	0	4.595e-05	4.593e-05	5.139e-05	4.027e-05	0.0002	2.107e-05	1.526e-05	1.972e-05	1.124e-05	4.81e-05	0	0	0	0	0	0	5.88e-05	0	0.0002	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	1	0.81001	D	4.425	0.98735	H	-4.53	0.97713	D	-7.84	0.96032	D	0.97	0.98065	1.063	0.98420	D	0.976	0.99261	D	10	0.95737	0.95111	D	0.278304	0.90138	D	0.963	0.99463	.	.	0.908858943475	0.90794	0.9665947754402855	0.96647	.	.	0.676555812359	0.63775	T	0.772755	0.93931	D	0.430571	0.91560	D	0.549837	0.95615	D	0.99987804889679	0.99471	D	0.997875	0.99096	D	0.89167476	0.90651	0.56869453	0.75030	0.89167476	0.90652	0.56869453	0.75030	-12.244	0.86019	D	0.7472799746719109	0.82937	0.561	0.72704	A	.;.	.;.	5.843747	0.93791	33	0.99933325873354473	0.99488	0.90640	0.51984	D	AEFDGBCI	0.743084	0.68650	D	0.942762162872389	0.93692	12.21063	0.83134577128364	0.91881	11.11764	0.999996438891751	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.28	5.28	0.74118	4.526000	0.60280	7.473000	0.59173	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.945000	0.48827	0.0:1.0:0.0:0.0	17.889	0.88784	976	0.04745	Cation-transporting P-type ATPase, C-terminal;Cation-transporting P-type ATPase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	2533.44	35	chr16	84461804	.	C	T	2533.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.29;DP=399;ExcessHet=0;FS=2.471;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-0.059;SOR=0.538	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	6	0	1	0
chr16	84760189	84760189	G	A	exonic	USP10	.	nonsynonymous SNV	USP10:NM_005153:exon8:c.G1468A:p.V490M,USP10:NM_001272075:exon9:c.G1480A:p.V494M	.	460	1058	3	1	0	5	0.00235738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	0.0025	0.00379393	0.0013	0.0123	0.0010	0.0002	0	7.686e-05	0.0017	0	0.0008409	130	154602	rs34121691	0.0004	0.0004	0.0004	0.0003	0.0116	0.0003	0.0003	0.0106	0.0103	0.0116	0.0008	0	5.047e-05	0	0.0009	3.245e-05	0.0009	9.401e-05	0.0030	0.0030	0.0029	0.0030	0.0104	0.0027	0.0027	0.0095	0.0092	0.0104	0	0.0010	0	0	0	0.0034	1.47e-05	0.0014	0.0004	0.082	0.43085	T	0.146	0.35205	T	0.437	0.41149	B	0.147	0.34014	B	0.432543	0.12730	N	0.766622	0.997943	0.22431	N	1.165	0.29723	L	1.54	0.30133	T	-0.69	0.23590	N	0.242	0.28849	-1.0851	0.06389	T	0.026	0.11220	T	10	0.006580442	0.00149	T	.	.	.	0.047	0.12962	.	.	0.117191471859	0.11215	0.30463201413525076	0.30376	0.0639365122651	0.07121	0.404083639383	0.25637	T	0.013985	0.18409	T	-0.607539	0.00131	T	-0.637502	0.09853	T	0.00718580646049887	0.00082	T	0.819518	0.51030	T	0.023353625	0.01069	0.04360193	0.05463	0.023353625	0.01068	0.04360193	0.05462	-7.014	0.56437	T	.	.	0.072	0.11027	B	.;.;.;.	.;.;.;.	0.881292	0.12544	9.074	0.97579266177706636	0.34725	0.15124	0.18756	N	AEFBHCI	0.095557	0.19304	N	-0.547796942626533	0.20553	1.084304	-0.592453869153922	0.19689	1.057491	0.999724294055637	0.42220	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	1.86	0.24489	0.185000	0.16767	0.334000	0.17313	-0.105000	0.15698	0.008000	0.17931	0.006000	0.19429	0.641000	0.32449	0.3509:0.0:0.6491:0.0	7.553	0.26974	889	0.27310	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;.;.;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1525.49	33	chr16	84760189	.	G	A	1525.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.039;DP=352;ExcessHet=0;FS=1.29;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=-2.007;SOR=0.56	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1298	6	0	1	0
chr16	87689925	87689925	G	C	exonic	JPH3	.	nonsynonymous SNV	JPH3:NM_020655:exon4:c.G1565C:p.R522P	Huntington disease-like 2, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.06228125378	.	.	.	.	.	.	.	.	.	.	.	.	.	rs748590824	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.035	0.52389	D	0.992	0.64738	D	0.549	0.49194	P	0.000000	0.84330	D	0.000000	0.997063	0.43605	D	1.735	0.44892	L	0.72	0.50976	T	-1.02	0.26843	N	0.736	0.73645	-0.8272	0.53480	T	0.166	0.50356	T	10	0.7239886	0.73850	D	0.062281	0.68603	D	0.181	0.45247	0.305	0.27485	0.425592409813	0.42174	0.38871282774339044	0.38786	0.477325536162	0.46845	0.701952219009	0.67426	T	0.378478	0.74144	T	0.10911	0.65260	D	-0.0810471	0.64827	T	0.933340013027191	0.60001	D	0.814918	0.46941	T	0.3732606	0.58825	0.4445019	0.67630	0.3732606	0.58825	0.4445019	0.67630	-3.415	0.15259	T	.	.	0.154	0.34004	B	.	.	3.570497	0.50282	22.9	0.99731395269667111	0.82761	0.91984	0.54689	D	AEFDBCI	0.921197	0.89430	D	0.49258356385305	0.66655	4.978358	0.485375515963343	0.67022	5.028522	0.999999052112738	0.74766	0.646311	0.45356	0	0.514364	0.08380	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.41	4.41	0.52588	7.811000	0.84631	9.589000	0.81043	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.846000	0.39970	0.0:0.0:1.0:0.0	16.023	0.80313	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	309.45	33	chr16	87689925	.	G	C	309.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.384;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.37;ReadPosRankSum=-1.261;SOR=0.759	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1087	6	0	1	0
chr16	87689962	87689962	G	C	exonic	JPH3	.	nonsynonymous SNV	JPH3:NM_020655:exon4:c.G1602C:p.E534D	Huntington disease-like 2, Autosomal dominant	2	1502	18	0	0	18	0.00595632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0027	0.00379393	0.0078	0	0.0435	0	0	0.0137	0	0	0.0013325	206	154602	rs200796473	0.0052	0.0049	0.0052	0.0052	0.0085	0.0051	0.0050	0.0064	0.0057	0.0007	0.0057	0.0072	0	0.0064	0.0085	0.0056	0.0056	0.0015	0.0045	0.0045	0.0045	0.0045	0.0066	0.0042	0.0041	0.0061	0.0059	0.0010	0.0066	0.0057	0.0052	0	0.0057	0.0068	0.0066	0.0061	0.0012	0.432	0.09486	T	0.36	0.16964	T	0.007	0.14184	B	0.004	0.10090	B	0.002308	0.36806	N	0.274240	0.598337	0.32516	D	1.555	0.39373	L	0.76	0.49919	T	-0.29	0.11728	N	0.134	0.13055	-1.0399	0.17343	T	0.027	0.11663	T	10	0.002562523	0.00039	T	.	.	.	0.036	0.09122	0.082	0.00727	0.419120893867	0.41530	0.09094603233499485	0.09027	0.119961035255	0.13508	0.595509767532	0.52271	T	0.161351	0.50558	T	-0.623201	0.00105	T	-0.662835	0.08076	T	0.00641517580681053	0.00071	T	0.564843	0.19943	T	0.048516646	0.08469	0.043954805	0.05585	0.048516646	0.08469	0.043954805	0.05585	-4.533	0.31318	T	.	.	0.068	0.02927	B	.	.	0.590218	0.09587	6.361	0.9773257866454591	0.35628	0.54021	0.29513	D	AEFDBCI	0.148458	0.27235	N	-0.792189261923692	0.13512	0.6661994	-0.701094934289882	0.16933	0.8981051	0.997086383469621	0.35260	0.695654	0.57023	0	0.550933	0.16991	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.43	2.42	0.28720	0.270000	0.18372	1.421000	0.26364	-0.153000	0.12021	0.873000	0.30851	1.000000	0.68203	0.000000	0.00833	0.085:0.1529:0.7621:0.0	8.648	0.33180	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005569	0.005882	0.010601	0.000000	0.050000	0.000000	0.000000	0.004808	0.07143	66.44	26	chr16	87689962	.	G	C	66.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.524;DP=199;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0;SOR=1.179	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1087	6	0	1	0
chr16	88429428	88429428	C	T	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.C1958T:p.P653L	Brittle cornea syndrome 1, Autosomal recessive	9	1511	2	0	0	2	0.000661376	.	.	YES	1843296	Cardiovascular_phenotype|not_provided	MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.884103422702	.	.	.	.	.	.	.	.	.	.	.	.	.	rs780409854	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	9.491e-05	0.0001	0.0001	3.179e-05	0	0	0	0	0	0.0001	3.467e-05	0	3.288e-05	3.281e-05	1.286e-05	5.383e-05	0.0002	1.262e-05	7.98e-06	1.974e-05	1.126e-05	0	0	0	0	0.0002	0	0	5.889e-05	0	0	0.059	0.38633	T	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	0.763027	0.29519	N	.	.	.	2.34	0.16351	T	-2.89	0.60665	D	0.205	0.22742	-1.0938	0.04929	T	0.037	0.16029	T	9	0.20585647	0.36827	T	0.884103	0.99118	D	0.054	0.15330	0.178	0.08503	0.373897652646	0.36997	0.1395164571160485	0.13874	.	.	0.473594605923	0.35175	T	0.025	0.18723	T	-0.378183	0.03199	T	-0.579973	0.14547	T	0.289122822989275	0.24553	T	0.662434	0.27137	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.14108	B	.;.	.;.	2.482015	0.32005	18.91	0.9938697146136164	0.62157	0.18789	0.20403	N	AEFBI	0.124979	0.24128	N	-0.191196643621473	0.33500	1.901256	-0.29990962936568	0.28102	1.564247	0.999026633699177	0.38237	0.580535	0.33130	0	0.547309	0.14657	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	4.34	3.3	0.36912	0.993000	0.29281	1.572000	0.27423	0.537000	0.25018	0.001000	0.13787	0.354000	0.24487	0.010000	0.09038	0.1837:0.7157:0.0:0.1005	6.450	0.21100	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	522.63	46	chr16	88429428	.	C	T	522.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.42;DP=276;ExcessHet=0;FS=2.55;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=0.473;SOR=0.805	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	6	0	1	0
chr16	88429767	88429767	G	A	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G2297A:p.R766Q	Brittle cornea syndrome 1, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	271013	Ehlers-Danlos_syndrome|Brittle_cornea_syndrome_1|ZNF469-related_disorder|not_specified|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|.|MedGen:CN169374|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.010	0.689879647916	.	.	0.0007	0	0.0072	0	0	0.0017	0	0.0001	0.0002005	31	154602	rs144492145	0.0016	0.0015	0.0015	0.0016	0.0027	0.0015	0.0015	0.0018	0.0017	0.0002	0.0014	0.0006	5.613e-05	6.643e-05	0.0027	0.0018	0.0012	0.0003	0.0011	0.0011	0.0010	0.0013	0.0025	0.0010	0.0009	0.0019	0.0016	0.0002	0	0.0025	0.0006	0	9.414e-05	0	0.0016	0.0014	0.0006	0.814	0.03005	T	0.397	0.15305	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.3	0.06368	T	0.15	0.05310	N	0.057	0.07949	-0.9293	0.44241	T	0.008	0.02884	T	9	0.008688509	0.00197	T	0.68988	0.97445	D	0.010	0.01040	.	.	0.0611884634855	0.05136	0.06980069154279185	0.06918	.	.	0.484836757183	0.36724	T	0.002174	0.01575	T	-0.721642	0.00027	T	-0.815223	0.01551	T	0.0182576048743362	0.00545	T	0.553945	0.19167	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05274	B	.;.	.;.	-0.159613	0.03302	0.572	0.96886367183716382	0.31481	0.01370	0.04678	N	AEFDBI	0.035639	0.04621	N	-1.4106909074892	0.02544	0.1124759	-1.4305145795966	0.02951	0.1367589	0.999945635966818	0.47345	0.582742	0.33608	0	0.541556	0.11502	0	0.61531	0.40942	0	0.604944	0.38103	0	.	.	4.63	-0.865	0.10122	-0.592000	0.05841	0.128000	0.15008	-0.292000	0.06281	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.3375:0.0:0.5122:0.1503	5.041	0.13801	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1375.53	45	chr16	88429767	.	G	A	1375.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.7;DP=310;ExcessHet=0;FS=4.704;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.326;SOR=0.921	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1386,0,1421	6	0	1	0
chr16	88434984	88434984	C	T	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.C7514T:p.P2505L	Brittle cornea syndrome 1, Autosomal recessive	1	1514	7	0	0	7	0.00230643	.	.	.	336508	not_provided|Cardiovascular_phenotype|Brittle_cornea_syndrome_1	MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.019	0.493321281619	.	0.000199681	0.0007	0.0009	0	0	0	0.0004	0.0065	0.0009	9.06e-05	14	154602	rs552311966	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	0.0001	0.0010	0.0010	3.165e-05	2.801e-05	0.0016	0	0	0.0012	5.932e-05	0.0003	0.0012	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	9.229e-05	0.0002	8.981e-05	2.405e-05	0	6.532e-05	0.0020	0	0	0	0.0002	0	0.0006	0.82	0.03184	T	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.89	0.45636	T	-1.88	0.43906	N	0.1	0.10198	-1.0401	0.17283	T	0.054	0.22731	T	9	0.02087292	0.00489	T	0.493321	0.95035	D	0.019	0.03383	.	.	0.251116650651	0.24721	0.03297733097687064	0.03245	.	.	0.334924459457	0.15677	T	0.029956	0.21344	T	-0.561856	0.00247	T	-0.625396	0.10766	T	0.0145803076716825	0.00299	T	0.518548	0.16835	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.15115	B	.;.	.;.	0.677514	0.10460	7.178	0.52155927680659486	0.04695	0.15707	0.19042	N	AEFBI	0.069942	0.13866	N	-0.962198159261524	0.09420	0.4457678	-1.01770092372883	0.09396	0.4672437	0.20086228948605	0.18121	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.655142	0.61905	0	.	.	4.22	0.99	0.18926	0.580000	0.23505	-0.113000	0.11807	-0.234000	0.07639	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.1643:0.6572:0.0:0.1785	5.019	0.13694	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001348	0.000000	0.016949	0.004673	0.000000	0.000000	0.000000	0.000000	0.07143	1314.53	40	chr16	88434984	.	C	T	1314.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.35;DP=401;ExcessHet=0;FS=1.828;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.84;ReadPosRankSum=1.04;SOR=1.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:97,0:97:99:.:.:0,120,1800:.	6	0	1	0
chr16	88611301	88611301	-	AGCGCG	exonic	ZC3H18	.	nonframeshift insertion	ZC3H18:NM_144604:exon8:c.1240_1241insAGCGCG:p.R423_D424insER,ZC3H18:NM_001294340:exon9:c.1312_1313insAGCGCG:p.R447_D448insER	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0.0002	0.0006	0	0	0.0001537	4	26028	rs754218191	0.0008	0.0007	0.0009	0.0007	0.0008	0.0007	0.0007	0.0007	0.0007	0.0004	4.85e-05	0	2.828e-05	0.0025	0.0005	0.0008	0.0015	0.0002	0.0007	0.0007	0.0007	0.0006	0.0012	0.0006	0.0005	0.0006	0.0005	0.0005	0	0	0	0	0.0024	0	0.0007	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	445.45	38	chr16	88611301	.	C	CAGCGCG	445.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.024;DP=257;ExcessHet=0;FS=10.301;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-1.997;SOR=2.118	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,101,1336	6	0	1	0
chr16	88630572	88630572	C	T	exonic	ZC3H18	.	nonsynonymous SNV	ZC3H18:NM_144604:exon17:c.C2654T:p.P885L,ZC3H18:NM_001294340:exon18:c.C2726T:p.P909L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0221672636618	.	0.000998403	0.0005	0.0002	0.0002	0	0	2.396e-05	0	0.0027	0.000304	47	154602	rs561177935	0.0002	0.0002	0.0001	0.0002	0.0021	0.0001	0.0001	0.0018	0.0017	2.992e-05	0.0003	0	0.0002	0	0	3.244e-05	0.0002	0.0021	0.0002	0.0002	0.0001	0.0002	0.0031	0.0001	9.231e-05	0.0019	0.0015	2.405e-05	0	0.0002	0	0.0002	0	0	5.879e-05	0	0.0031	0.042	0.42199	D	0.114	0.36765	T	0.433	0.40232	B	0.103	0.34014	B	0.000100	0.51296	N	0.180436	0.999986	0.18198	N	1.1	0.28011	L	1.46	0.32238	T	-2.33	0.62630	N	0.142	0.14196	-1.0006	0.29746	T	0.074	0.29992	T	10	0.005359262	0.00118	T	0.022167	0.45031	T	0.058	0.16647	.	.	0.043077524339	0.03247	0.11306261664582604	0.11234	0.542930541331	0.51382	0.315722376108	0.12774	T	0.042867	0.26319	T	-0.623694	0.00104	T	-0.675146	0.07283	T	0.0194159605802795	0.00646	T	0.749925	0.42528	T	0.028978502	0.02319	0.03981416	0.04160	0.028978502	0.02318	0.03981416	0.04160	-7.482	0.57484	T	.	.	0.074	0.10594	B	.;.;.	.;.;.	1.651432	0.21067	15.04	0.48156813452511282	0.03996	0.27870	0.23397	N	AEFDBI	0.069041	0.13647	N	-0.339002789410148	0.27678	1.520531	-0.418131266126353	0.24465	1.339856	0.516164640661006	0.21058	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.51	2.13	0.26445	2.049000	0.40912	0.789000	0.21551	-0.176000	0.10722	0.694000	0.28569	0.121000	0.22902	0.041000	0.14368	0.38:0.3702:0.0:0.2498	3.869	0.08533	884	0.28482	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	597.63	23	chr16	88630572	.	C	T	597.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.758;DP=188;ExcessHet=0;FS=4.813;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-0.723;SOR=0.233	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1045	6	0	1	0
chr16	88723301	88723301	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon32:c.G4363A:p.A1455T	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	382	1133	7	0	0	7	0.00307963	.	.	.	703890	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.066	.	.	0.00119808	0.0024	0	0	0	0.0122	0.0036	0.0062	0.0018	0.0004657	72	154602	rs191656121	0.0015	0.0014	0.0014	0.0016	0.0053	0.0014	0.0014	0.0038	0.0033	0.0001	0.0006	0.0002	0.0006	0.0016	0.0053	0.0016	0.0012	0.0014	0.0016	0.0016	0.0017	0.0015	0.0028	0.0014	0.0014	0.0025	0.0023	0.0001	0	0.0007	0	0.0012	0.0010	0.0068	0.0028	0.0024	0.0025	0.485	0.08115	T	0.038	0.51421	D	0.343	0.33512	B	0.035	0.22741	B	0.000890	0.41231	D	0.200054	0.930638	0.36964	D	1.785	0.46417	L	-0.71	0.72889	T	-1.15	0.29525	N	0.223	0.25006	-0.8457	0.52263	T	0.206	0.56431	T	10	0.004822403	0.00102	T	.	.	.	0.081	0.23632	.	.	0.134007934775	0.12933	0.1714602444143789	0.17066	.	.	0.516444385052	0.41126	T	0.072419	0.34450	T	-0.423406	0.01628	T	-0.383075	0.35361	T	0.0125514325208221	0.00208	T	0.825517	0.48813	T	0.084059775	0.19440	0.09396206	0.22219	0.084059775	0.19439	0.09396206	0.22219	-5.355	0.40484	T	0.10148391091314822	0.07607	0.089	0.12323	B	.	.	3.390508	0.46937	22.4	0.99882234198270403	0.95813	0.76538	0.37545	D	AEFDBCI	0.268612	0.38506	N	0.10048653159397	0.46485	2.88814	0.130408842044348	0.46112	2.862587	0.988704923019811	0.31601	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.1	4.09	0.47038	0.636000	0.24333	3.957000	0.40718	0.599000	0.40250	0.138000	0.23473	0.999000	0.35428	0.977000	0.56843	0.0:0.7677:0.1478:0.0845	9.444	0.37852	873	0.30802	Piezo domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005917	0.000000	0.012195	0.007143	0.000000	0.000000	0.000000	0.011628	0.07143	388.83	34	chr16	88723301	.	C	T	388.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.092;DP=227;ExcessHet=0;FS=1.06;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.7;ReadPosRankSum=0.016;SOR=0.507	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1369	6	0	1	0
chr16	88723932	88723932	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon31:c.G4274A:p.S1425N	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	417	1098	7	0	0	7	0.00317749	.	.	.	982039	Dehydrated_hereditary_stomatocytosis_with_or_without_pseudohyperkalemia_and/or_perinatal_edema|Blood_group,_ER|Lymphatic_malformation_6|PIEZO1-related_disorder|not_provided	MONDO:MONDO:0008689,MedGen:C4551512,OMIM:194380,Orphanet:3202|MedGen:C5703066,OMIM:620207|MONDO:MONDO:0014797,MedGen:C4225184,OMIM:616843,Orphanet:568062|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.134	0.521898163511	.	.	0.0011	0	0.0024	0	0	0.0004	0	0.0022	0.0001552	24	154602	rs772788410	0.0004	0.0004	0.0003	0.0004	0.0032	0.0003	0.0003	0.0023	0.0022	6.332e-05	8.403e-05	0.0011	0	2.081e-05	0.0032	0.0002	0.0005	0.0026	0.0002	0.0002	0.0002	0.0002	0.0017	0.0001	0.0001	0.0008	0.0006	7.213e-05	0	6.532e-05	0.0012	0	0	0.0034	0.0001	0.0014	0.0017	0.144	0.25255	T	0.08	0.41913	T	1.0	0.90584	D	0.997	0.86255	D	0.000082	0.51296	D	0.194121	0.999806	0.49283	D	3.1	0.87590	M	-0.93	0.75215	T	-2.21	0.49684	N	0.466	0.50237	-0.3703	0.72952	T	0.379	0.73587	T	10	0.052884102	0.05393	T	0.521898	0.95459	D	0.260	0.57221	0.216	0.13643	0.285775778912	0.28195	0.37909203879146175	0.37824	.	.	0.831357896328	0.86770	D	0.312511	0.68433	T	-0.401489	0.02264	T	-0.354725	0.38663	T	0.159493900370773	0.17834	T	0.861414	0.55526	D	0.18746126	0.40201	0.17324612	0.39637	0.18746126	0.40201	0.17324612	0.39636	-11.988	0.84793	D	0.6523361768315288	0.72467	0.710	0.73380	P	.	.	4.337266	0.66507	25.0	0.99669483997941732	0.78458	0.97253	0.73599	D	AEFBI	0.694129	0.65323	D	0.287204185475833	0.55499	3.713965	0.302764658637187	0.55701	3.733018	0.999999996637528	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.21	5.21	0.72005	4.545000	0.60408	7.495000	0.59416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.187000	0.21511	0.0:1.0:0.0:0.0	17.878	0.88744	873	0.30802	Piezo domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003663	0.000000	0.000000	0.004065	0.000000	0.000000	0.009804	0.008333	0.07143	1168.49	35	chr16	88723932	.	C	T	1168.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.153;DP=316;ExcessHet=0;FS=0.636;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=1.36;SOR=0.616	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1371	6	0	1	0
chr16	88808259	88808259	G	T	exonic	CDT1	.	nonsynonymous SNV	CDT1:NM_030928:exon10:c.G1622T:p.R541L	Meier-Gorlin syndrome 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2099471	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.153	0.0335959048691	.	0.00139776	0.0012	0.0002	0	0	0	0	0	0.0060	0.0005175	80	154602	rs558748090	0.0003	0.0003	0.0002	0.0004	0.0040	0.0002	0.0002	0.0037	0.0035	0	4.779e-05	0	0	0	0.0003	1.359e-05	0.0006	0.0040	0.0002	0.0002	0.0001	0.0004	0.0060	0.0002	0.0002	0.0043	0.0037	9.618e-05	0	0.0001	0	0	0	0	1.47e-05	0	0.0060	0.061	0.37118	T	0.214	0.26386	T	0.924	0.51285	P	0.2	0.36839	B	0.524820	0.05223	N	1.287020	1	0.08975	N	1.655	0.42436	L	0.06	0.61798	T	-2.05	0.47008	N	0.224	0.25130	-0.8829	0.49529	T	0.109	0.39462	T	10	0.0057599843	0.00128	T	0.033596	0.55094	D	0.153	0.40148	.	.	0.51520462741	0.51163	0.3452282525551535	0.34436	0.0231559569802	0.02349	0.249110400677	0.03675	T	0.053024	0.29327	T	-0.4928	0.00627	T	-0.480383	0.24407	T	0.041523668149202	0.03967	T	0.463154	0.13467	T	0.057426557	0.11427	0.07949957	0.17902	0.057426557	0.11427	0.07949957	0.17902	-6.177	0.47736	T	0.5117681776606521	0.58542	0.107	0.19998	B	.	.	1.003348	0.13822	10.37	0.96498837375526303	0.30034	0.36875	0.25634	N	AEFDBHCI	0.099818	0.20084	N	-1.11440784983917	0.06385	0.2938133	-1.291013047274	0.04551	0.2149333	0.999999983949509	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.43	-6.22	0.01881	-0.168000	0.09914	-0.435000	0.09196	-0.677000	0.04263	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5497:0.0:0.1212:0.329	6.107	0.19303	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001520	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1275.49	39	chr16	88808259	.	G	T	1275.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.37;DP=316;ExcessHet=0;FS=3.64;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-1.322;SOR=1.104	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	6	0	1	0
chr16	89198297	89198297	G	C	exonic	SLC22A31	.	nonsynonymous SNV	SLC22A31:NM_001366322:exon7:c.C693G:p.S231R,SLC22A31:NM_001384763:exon7:c.C747G:p.S249R,SLC22A31:NM_001384764:exon7:c.C546G:p.S182R,SLC22A31:NM_001384765:exon7:c.C423G:p.S141R,SLC22A31:NM_001384766:exon7:c.C423G:p.S141R,SLC22A31:NM_001384767:exon7:c.C423G:p.S141R,SLC22A31:NM_001384768:exon7:c.C423G:p.S141R,SLC22A31:NM_001384769:exon7:c.C423G:p.S141R,SLC22A31:NM_001384770:exon7:c.C423G:p.S141R,SLC22A31:NM_001384771:exon7:c.C423G:p.S141R,SLC22A31:NM_001384772:exon7:c.C141G:p.S47R,SLC22A31:NM_001384773:exon7:c.C141G:p.S47R,SLC22A31:NM_001384775:exon7:c.C141G:p.S47R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00938459984064	.	.	8.068e-05	0.0018	0	0	0	0	0	0	6.5e-06	1	154602	rs749842570	6.649e-05	6.293e-05	8.989e-05	4.248e-05	0.0023	5.523e-05	5.119e-05	0.0019	0.0017	0.0023	0.0001	0	0	0	0	0	0.0003	0	0.0008	0.0008	0.0007	0.0008	0.0026	0.0007	0.0006	0.0022	0.0021	0.0026	0	0.0005	0	0	0	0	0	0	0	.	.	.	0.062	0.62352	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.20262	.	.	.	.	.	.	.	0.028229028	0.00958	T	0.009385	0.24600	T	.	.	.	.	0.356281029322	0.35234	.	.	.	.	0.434709846973	0.29854	T	.	.	.	-0.3565	0.04331	T	-0.2876	0.46022	T	.	.	.	0.460354	0.13329	T	0.096596174	0.22754	0.21830083	0.46528	0.096596174	0.22754	0.21830083	0.46527	-5.716	0.43836	T	.	.	.	.	.	.;.	.;.	2.317866	0.29679	18.20	0.69776270561919096	0.09081	0.99809	0.99609	D	AEFDBHCI	0.369079	0.45594	N	.	.	.	.	.	.	0.999983964343151	0.51787	0.252514	0.04256	0	0.060609	0.00678	0	0.295636	0.05589	0	0.092715	0.02821	0	.	.	3.71	0.399	0.15547	2.479000	0.44857	1.333000	0.25683	0.509000	0.23192	0.988000	0.36536	0.909000	0.28100	0.256000	0.23417	0.1965:0.0:0.6173:0.1862	4.842	0.12857	819	0.41190	Major facilitator superfamily domain;Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	536.63	36	chr16	89198297	.	G	C	536.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.411;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.235;SOR=0.54	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	6	0	1	0
chr16	89281033	89281033	G	A	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.C5509T:p.P1837S,ANKRD11:NM_013275:exon9:c.C5509T:p.P1837S,ANKRD11:NM_001256182:exon10:c.C5509T:p.P1837S	KBG syndrome, Autosomal dominant	0	1478	43	1	0	45	0.014995	.	.	.	580086	ANKRD11-related_disorder|not_provided|Inborn_genetic_diseases|not_specified|KBG_syndrome	.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.019	.	0.0042	0.00199681	0.0040	0.0008	0.0038	0	0.0038	0.0055	0.0059	0.0022	0.0038551	596	154602	rs145906515	0.0032	0.0033	0.0031	0.0033	0.0325	0.0032	0.0031	0.0287	0.0272	0.0012	0.0050	0.0141	0	0.0048	0.0325	0.0028	0.0051	0.0022	0.0040	0.0040	0.0041	0.0039	0.0093	0.0037	0.0036	0.0081	0.0076	0.0007	0	0.0093	0.0156	0	0.0024	0.0850	0.0045	0.0109	0.0010	0.38	0.11191	T	0.811	0.03933	T	0.002	0.09854	B	0.003	0.08700	B	0.064985	0.21913	N	0.385555	1	0.08975	N	1.445	0.36358	L	1.3	0.35590	T	-0.1	0.08495	N	0.056	0.05542	-1.0053	0.28368	T	0.025	0.10688	T	10	0.0031891763	0.00054	T	.	.	.	0.019	0.03383	.	.	0.213499824651	0.20940	0.03753617685181097	0.03699	0.0990860901721	0.11200	0.280230402946	0.07524	T	0.062284	0.31875	T	-0.651348	0.00071	T	-0.704387	0.05589	T	0.00249692265642688	0.00026	T	0.715028	0.32735	T	0.02164385	0.00778	0.030817764	0.01587	0.023787895	0.01150	0.04176469	0.04822	-3.505	0.16501	T	.	.	0.081	0.08465	B	.;.;.	.;.;.	1.313788	0.17173	13.00	0.89837487977274233	0.19145	0.11940	0.16959	N	AEFBCI	0.048531	0.08291	N	-1.211134778551	0.04837	0.2191572	-1.22349443315435	0.05534	0.2639546	0.994268546997177	0.33559	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.59	-1.28	0.08834	0.906000	0.28140	2.752000	0.34542	0.670000	0.69193	0.116000	0.23103	0.987000	0.30940	0.005000	0.06747	0.2829:0.4378:0.2793:0.0	5.962	0.18540	819	0.41190	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.029708	0.035354	0.029891	0.061404	0.000000	0.025862	0.021341	0.003788	0.07143	1189.45	103	chr16	89281033	.	G	A	1189.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.12;DP=295;ExcessHet=0;FS=2.601;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=2.12;SOR=0.442	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1096	6	0	1	0
chr16	89284161	89284161	A	G	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.T2381C:p.I794T,ANKRD11:NM_013275:exon9:c.T2381C:p.I794T,ANKRD11:NM_001256182:exon10:c.T2381C:p.I794T	KBG syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3802387	KBG_syndrome	MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00727015055541	.	.	8.591e-06	0	8.868e-05	0	0	0	0	0	6.5e-06	1	154602	rs759272573	1.377e-06	3.42e-06	1.369e-06	1.386e-06	4.661e-05	2.3e-07	9e-08	7.73e-06	2.89e-06	0	4.661e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.52	0.10465	T	0.0	0.02946	B	0.0	0.01387	B	0.473085	0.12254	N	0.748708	1	0.08975	N	-1.085	0.01025	N	1.34	0.34841	T	1.27	0.00985	N	0.046	0.02088	-1.0048	0.28517	T	0.024	0.10194	T	10	0.016104728	0.00339	T	0.00727	0.19280	T	0.018	0.03083	0.218	0.13932	0.102598925029	0.09809	3.480766670945786E-4	0.00031	0.108005847181	0.12179	0.323267638683	0.13916	T	0.061263	0.31607	T	-0.50949	0.00505	T	-0.78994	0.02166	T	0.0337778290875112	0.02601	T	0.126787	0.01303	T	0.020807045	0.00653	0.037021473	0.03266	0.020807045	0.00653	0.037021473	0.03266	-3.569	0.17410	T	0.0408067304843778	0.00374	0.07	0.06024	B	.;.;.;.	.;.;.;.	-0.089938	0.03702	0.755	0.29245769297825269	0.01541	0.12818	0.17497	N	AEDBI	0.048489	0.08280	N	-1.30269010940199	0.03644	0.1631694	-1.23211650683061	0.05401	0.257258	0.785011936865866	0.23914	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.43	-1.61	0.07951	0.642000	0.24426	0.839000	0.22025	-0.752000	0.03574	0.196000	0.24261	0.001000	0.17328	0.524000	0.29567	0.2653:0.2317:0.3836:0.1193	1.593	0.02498	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	153.93	36	chr16	89284161	.	A	G	153.93	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-2.129;DP=381;ExcessHet=0.4139;FS=106.17;MLEAC=1;MLEAF=0.1;MQ=59.92;MQRankSum=0;QD=1.37;ReadPosRankSum=0.057;SOR=7.328	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,13:66:99:0|1:89284160_A_G:161,0,1933:89284160	3	0	2	2
chr16	89284747	89284747	T	A	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.A1795T:p.R599W,ANKRD11:NM_013275:exon9:c.A1795T:p.R599W,ANKRD11:NM_001256182:exon10:c.A1795T:p.R599W	KBG syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.0644850323704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.014	0.62352	D	0.999	0.77913	D	0.924	0.65913	D	0.000015	0.62929	D	0.107769	0.966023	0.38504	D	2.08	0.57402	M	1.08	0.39401	T	-3.63	0.69714	D	0.339	0.38027	-0.8506	0.51926	T	0.179	0.52520	T	10	0.2862172	0.46204	T	0.064485	0.69290	D	0.176	0.44373	0.293	0.25560	0.317526407968	0.31361	0.03854498775245508	0.03800	0.461749125381	0.45718	0.428896546364	0.29058	T	0.597679	0.87059	D	-0.0733161	0.40796	T	-0.34309	0.39995	T	0.975876033306122	0.71128	D	0.90391	0.66280	D	0.25634876	0.48674	0.2564887	0.51349	0.25634876	0.48674	0.2564887	0.51349	-6.226	0.48133	T	0.6010058624993233	0.66802	0.279	0.51832	B	.;.;.;.	.;.;.;.	3.135158	0.42376	21.5	0.99887597522480287	0.96204	0.93147	0.57448	D	AEFBI	0.648481	0.62328	D	0.11529706552247	0.47176	2.947032	0.0190428627742556	0.40600	2.42556	0.927136897602537	0.26877	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.71	2.21	0.27042	2.770000	0.47346	1.065000	0.23755	0.651000	0.53179	1.000000	0.71638	0.776000	0.26740	0.667000	0.33166	0.0:0.0:0.3808:0.6192	13.534	0.61094	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2116.44	145	chr16	89284747	.	T	A	2116.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.109;DP=397;ExcessHet=0;FS=2.084;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=-1.312;SOR=0.673	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr16	89578966	89578966	T	G	exonic	CPNE7	.	nonsynonymous SNV	CPNE7:NM_014427:exon3:c.T467G:p.L156R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00205608325721	0.0030	0.00139776	0.0006	0.0068	0	0	0	0	0	0	0.0005369	83	154602	rs148102686	0.0002	0.0002	0.0002	0.0001	0.0059	0.0001	0.0001	0.0053	0.0050	0.0059	6.767e-05	0	0	0	0	0	0.0005	0	0.0019	0.0019	0.0021	0.0018	0.0067	0.0018	0.0017	0.0061	0.0058	0.0067	0	0.0006	0	0	0	0	0	0.0024	0.0002	0.185	0.21550	T	0.05	0.48080	T	0.107	0.26081	B	0.041	0.23986	B	0.000191	0.00507	N	2587.340000	1	0.08975	N	0	0.06538	N	2.46	0.14907	T	-0.06	0.07882	N	0.355	0.39659	-1.0521	0.13818	T	0.022	0.09238	T	9	0.0041562617	0.00082	T	0.002056	0.03748	T	0.050	0.13987	.	.	0.324161360171	0.32030	0.4418014463056487	0.44097	0.0844731523093	0.09542	.	.	.	0.037357	0.24446	T	-0.579479	0.00194	T	-0.601851	0.12656	T	0.00323477712251054	0.00034	T	0.218178	0.02774	T	0.1664762	0.36985	0.21401143	0.45934	0.1664762	0.36985	0.21401143	0.45933	-3.179	0.12226	T	.	.	0.072	0.04356	B	.	.	-0.014286	0.04185	1.014	0.62219796245474301	0.06907	0.00736	0.03080	N	AEFBI	0.035620	0.04615	N	-1.25362090518036	0.04252	0.191547	-1.39947953380508	0.03258	0.1516104	0.992033352286259	0.32696	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.622129	0.49086	0	.	.	0.471	-0.942	0.09869	-0.448000	0.06893	0.083000	0.14415	-0.553000	0.04888	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	.	.	.	781	0.47532	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	315.44	34	chr16	89578966	.	T	G	315.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.513;DP=232;ExcessHet=0;FS=4.678;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=1.21;SOR=1.981	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,100,1550	6	0	1	0
chr16	89637333	89637333	G	A	exonic	DPEP1	.	nonsynonymous SNV	DPEP1:NM_001128141:exon7:c.G721A:p.V241M,DPEP1:NM_004413:exon7:c.G721A:p.V241M	.	10	1510	1	0	1	2	0.000331016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0119497498524	0.0017	0.00119808	0.0006	0.0044	0.0016	0	0	7.662e-05	0	0	0.0004851	75	154602	rs148240484	0.0002	0.0002	0.0002	0.0002	0.0039	0.0002	0.0002	0.0034	0.0032	0.0039	0.0011	0.0005	0.0004	0	0.0002	6.745e-05	0.0004	4.637e-05	0.0012	0.0012	0.0012	0.0012	0.0037	0.0010	0.0010	0.0032	0.0030	0.0037	0	0.0010	0.0009	0.0002	0	0	2.94e-05	0.0009	0	0.006	0.61437	D	0.022	0.57587	D	0.973	0.57599	D	0.47	0.46768	P	0.574898	0.05501	N	1.232820	0.999999	0.08975	N	2.515	0.73286	M	1.76	0.25996	T	-1.59	0.38345	N	0.321	0.36569	-0.9089	0.46989	T	0.052	0.22230	T	10	0.017910928	0.00385	T	0.01195	0.30076	T	0.151	0.39764	.	.	0.0138822411134	0.00435	0.5548071472660379	0.55407	0.0277202138358	0.02835	0.247962877154	0.03556	T	0.215419	0.57729	T	-0.561954	0.00247	T	-0.580266	0.14520	T	0.0339012699020705	0.02621	T	0.926707	0.72990	D	0.25286093	0.48304	0.11794223	0.28470	0.25286093	0.48304	0.11794223	0.28470	-7.542	0.57905	D	.	.	0.188	0.42863	B	.;.;.	.;.;.	1.021112	0.14004	10.57	0.93174568262330326	0.22832	0.04381	0.09959	N	AEFBCI	0.092843	0.18792	N	-0.987236714142156	0.08875	0.4178595	-1.24547147592867	0.05198	0.2471062	0.999999952390075	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.12	-9.02	0.00635	-4.699000	0.00227	-7.701000	0.01103	-1.029000	0.01701	0.000000	0.06391	0.000000	0.08366	0.213000	0.22268	0.3793:0.2478:0.3145:0.0584	5.784	0.17589	814	0.42100	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	715.44	33	chr16	89637333	.	G	A	715.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.957;DP=265;ExcessHet=0;FS=2.145;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=0.848;SOR=1.101	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr16	89767168	89767168	G	C	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon27:c.C2574G:p.S858R,FANCA:NM_001286167:exon27:c.C2574G:p.S858R	Fanconi anemia, complementation group A, Autosomal recessive	3	1387	124	8	0	140	0.0480439	.	.	.	137995	not_provided|Fanconi_anemia|Fanconi_anemia_complementation_group_A|not_specified|FANCA-related_disorder	MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.134	.	0.0053	0.00938498	0.0103	0.0013	0.0038	0	0.0100	0.0094	0.0099	0.0296	0.0096118	1486	154602	rs17233141	0.0092	0.0093	0.0085	0.0100	0.0324	0.0091	0.0090	0.0314	0.0310	0.0012	0.0043	0.0111	0	0.0093	0.0250	0.0080	0.0100	0.0324	0.0064	0.0064	0.0063	0.0065	0.0255	0.0061	0.0059	0.0218	0.0204	0.0018	0.0011	0.0067	0.0069	0.0002	0.0081	0.0170	0.0079	0.0090	0.0255	0.063	0.37536	T	0.072	0.45110	T	0.257	0.31412	B	0.143	0.33763	B	0.179044	0.17154	N	0.583605	1	0.08975	N	2.24	0.63355	M	-1.88	0.84557	D	-2.16	0.48850	N	0.338	0.39659	-0.7091	0.59997	T	0.315	0.68486	T	10	0.008692145	0.00197	T	.	.	.	0.134	0.36365	0.249	0.18602	.	.	0.17119845704923142	0.17039	.	.	0.284874647856	0.08182	T	0.224342	0.58875	T	-0.321408	0.06783	T	-0.210772	0.53621	T	0.00823742409031721	0.00099	T	0.563744	0.19863	T	0.068879694	0.15043	0.10313486	0.24736	0.086379096	0.20074	0.08347228	0.19130	-4.486	0.30718	T	0.5329796739477456	0.60360	0.201	0.43380	B	.;.	.;.	0.963643	0.13404	9.909	0.93017545135543789	0.22613	0.09317	0.15097	N	AEFBI	0.154989	0.28011	N	-0.867700815936059	0.11617	0.561594	-0.95107218514313	0.10898	0.5518684	0.720075285439065	0.22921	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.77	1.56	0.22423	1.788000	0.38346	3.011000	0.35961	-0.149000	0.12139	0.026000	0.20160	0.585000	0.25641	0.008000	0.08271	0.1928:0.0:0.634:0.1731	4.561	0.11560	671	0.60868	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.023185	0.010101	0.017663	0.011696	0.000000	0.025862	0.048780	0.019084	0.07143	262.49	20	chr16	89767168	.	G	C	262.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.407;DP=190;ExcessHet=0;FS=4.948;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.25;ReadPosRankSum=-0.299;SOR=1.019	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,973	6	0	1	0
chr16	89863554	89863554	G	A	exonic	SPIRE2	.	nonsynonymous SNV	SPIRE2:NM_032451:exon11:c.G1654A:p.E552K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.775	0.283268600651	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1480027511	4.789e-06	4.788e-06	6.806e-06	2.75e-06	2.987e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	2.987e-05	0	0	0	0	0	4.496e-06	1.656e-05	0	6.571e-06	6.566e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.67	0.78151	M	-0.64	0.77336	T	-3.7	0.70553	D	0.967	0.98563	0.534	0.91015	D	0.697	0.89568	D	10	0.87594163	0.86884	D	0.283269	0.90307	D	0.775	0.92460	0.418	0.45873	0.686562002565	0.68387	0.7029108496554749	0.70232	0.703401887687	0.61268	0.7511318326	0.74613	T	0.436573	0.78291	T	0.282434	0.81523	D	0.349448	0.90294	D	0.994813919067383	0.86343	D	0.993861	0.97982	D	0.85627466	0.87803	0.7735887	0.86638	0.85627466	0.87805	0.7735887	0.86639	-11.753	0.83627	D	.	.	0.851	0.80068	P	.;.	.;.	5.816405	0.93679	33	0.99937472430462981	0.99661	0.98717	0.85956	D	AEFGBI	0.930856	0.91880	D	0.950143618138434	0.93990	12.42235	0.907231960838196	0.95881	14.06467	0.999999999999997	0.74766	0.695654	0.57023	0	0.296712	0.05252	1	0.723109	0.80598	0	0.620204	0.46100	0	.	.	5.64	5.64	0.86480	9.519000	0.97069	11.601000	0.93476	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.686	0.91522	604	0.67577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1435.44	33	chr16	89863554	.	G	A	1435.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.64;DP=305;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-0.21;SOR=0.662	GT:AD:DP:GQ:PL	0/1:61,60:121:99:1446,0,1412	6	0	1	0
chr16	89900636	89900636	C	G	exonic	TCF25	.	nonsynonymous SNV	TCF25:NM_014972:exon12:c.C1223G:p.A408G	.	425	1081	15	1	0	17	0.00780174	0.0001	0.014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0038737488847	0.0037	0.00219649	0.0037	0.0006	0.0036	0.0001	0.0009	0.0047	0.0011	0.0052	0.0036287	561	154602	rs75719943	0.0046	0.0046	0.0046	0.0047	0.0050	0.0046	0.0045	0.0049	0.0048	0.0005	0.0023	0.0136	0	0.0008	0.0049	0.0050	0.0043	0.0050	0.0030	0.0030	0.0034	0.0025	0.0045	0.0028	0.0027	0.0040	0.0039	0.0008	0	0.0018	0.0153	0.0004	0.0010	0	0.0045	0.0028	0.0039	0.194	0.28520	T	0.261	0.22962	T	0.018	0.19075	B	0.026	0.23607	B	0.208935	0.16413	N	0.659388	0.922594	0.36722	D	0.975	0.24501	L	.	.	.	-1.65	0.39503	N	0.17	0.19055	-0.9063	0.47297	T	0.098	0.36574	T	9	0.008198619	0.00186	T	0.003874	0.09086	T	0.027	0.05988	.	.	0.314417295294	0.31040	0.10664353812247865	0.10594	0.154448843171	0.17448	0.322857230902	0.13853	T	0.032788	0.26786	T	-0.483383	0.00707	T	-0.464511	0.26109	T	0.00264271366004096	0.00028	T	0.794521	0.44963	T	0.12059963	0.28374	0.11749133	0.28364	0.12059963	0.28374	0.11749133	0.28363	-6.395	0.49471	T	.	.	0.084	0.09723	B	.;.	.;.	1.691293	0.21548	15.25	0.9789408958704614	0.36690	0.67411	0.33423	D	AEFGBCI	0.247582	0.36813	N	-0.520414616955509	0.21421	1.136666	-0.396363472616956	0.25105	1.378669	0.00958903472302979	0.11879	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.36	1.94	0.25058	0.747000	0.25956	1.148000	0.24458	-0.279000	0.06446	0.978000	0.35038	0.658000	0.26000	0.682000	0.33600	0.1134:0.515:0.3716:0.0	10.574	0.44406	624	0.65661	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002520	0.000000	0.004076	0.000000	0.000000	0.000000	0.006135	0.000000	0.07143	1175.53	80	chr16	89900636	.	C	G	1175.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.917;DP=255;ExcessHet=0;FS=0.849;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=-1.111;SOR=0.816	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1158	6	0	1	0
chr16	90009342	90009342	C	A	exonic	DBNDD1	.	nonsynonymous SNV	DBNDD1:NM_001042610:exon2:c.G120T:p.E40D,DBNDD1:NM_024043:exon2:c.G180T:p.E60D,DBNDD1:NM_001288708:exon3:c.G120T:p.E40D	.	.	.	.	.	.	.	.	.	.	.	2265628	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.191	0.0134570678618	0.0002	0.000199681	0.0003	0	0.0002	0	0	0.0004	0	0	0.0002199	34	154602	rs199893398	0.0003	0.0003	0.0003	0.0003	0.0017	0.0003	0.0002	0.0009	0.0007	2.987e-05	8.945e-05	0	0	0	0.0017	0.0003	0.0003	1.159e-05	0.0003	0.0003	0.0004	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	9.618e-05	0	0.0004	0	0	9.406e-05	0	0.0006	0	0	0.0	0.91255	D	0.0	0.92824	D	0.994	0.67487	D	0.915	0.65091	D	0.000024	0.55875	D	0.066341	0.999309	0.46608	D	2.215	0.62545	M	1.43	0.32958	T	-2.43	0.53258	N	0.319	0.35938	-0.8809	0.49689	T	0.158	0.49111	T	9	0.09516588	0.16977	T	0.013457	0.32880	T	0.191	0.46948	0.62	0.75461	0.0482279557977	0.04254	0.11454073062994523	0.11382	0.302961409508	0.32622	0.447964727879	0.31666	T	0.087225	0.37895	T	-0.345634	0.05007	T	-0.377879	0.35971	T	0.230677232146263	0.21984	T	0.734627	0.35069	T	0.4224207	0.62252	0.3410235	0.59847	0.4224207	0.62253	0.3410235	0.59847	-4.714	0.35214	T	.	.	0.150	0.37350	B	.;.;.;.	.;.;.;.	2.023610	0.25718	16.86	0.99854234948608223	0.93279	0.91139	0.52936	D	AEFDGBI	0.238806	0.36087	N	0.369679514564629	0.59786	4.160996	0.286032770498122	0.54721	3.636471	0.999815433882983	0.43459	0.634777	0.41761	0	0.616935	0.53198	0	0.0	0.00061	3	0.645665	0.59343	0	.	.	4.79	3.82	0.43153	0.547000	0.23007	-0.032000	0.12782	-0.242000	0.07441	0.984000	0.35821	0.073000	0.22253	0.181000	0.21328	0.0:0.8341:0.0:0.1659	9.450	0.37883	745	0.52414	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	1212.46	35	chr16	90009342	.	C	A	1212.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.26;DP=283;ExcessHet=0;FS=2.669;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-0.914;SOR=1.036	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1385	6	0	1	0
chr17	413501	413501	G	0	exonic	C17orf97	.	.	.	.	518	917	57	3	27	90	0.0332103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1946.13	39	chr17	413501	.	G	*	1946.13	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.27;DP=337;ExcessHet=0.0921;FS=1.323;MLEAC=2;MLEAF=0.143;MQ=58.96;MQRankSum=-0.212;QD=12.72;ReadPosRankSum=1.47;SOR=0.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,28:54:99:1|0:413473_GGCCCTCAAGGGCTTCCACCCCGACCCCGAC_G:1791,906,836:413473	5	0	2	0
chr17	413503	413503	C	0	exonic	C17orf97	.	.	.	.	725	444	202	125	26	478	0.337313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3971.62	37	chr17	413503	.	C	*	3971.62	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.55;DP=368;ExcessHet=0.3696;FS=0;MLEAC=2;MLEAF=0.143;MQ=58.98;MQRankSum=-0.767;QD=11.68;ReadPosRankSum=0.778;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,28:54:99:1|0:413473_GGCCCTCAAGGGCTTCCACCCCGACCCCGAC_G:1791,906,836:413473	5	0	2	0
chr17	413682	413771	AGGCCCTCAAGGGTTTCCACATTGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCCGACCCCA	-	exonic	C17orf97	.	nonframeshift deletion	C17orf97:NM_001013672:exon2:c.839_928del:p.I287_H316del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0030	0.0003	0.0003	0.0006	0.0009	0.0011	0.0010	0.0003458	9	26028	.	0.0002	0.0003	0.0002	0.0002	0.0007	0.0002	0.0002	0.0005	0.0005	0.0001	0.0001	0.0002	2.561e-05	0.0004	0.0002	0.0001	0.0003	0.0007	7.955e-05	0.0002	7.703e-05	8.223e-05	0.0003	4.314e-05	3.224e-05	5.748e-05	3.691e-05	0.0001	0	7.838e-05	0	0	0.0001	0	3.441e-05	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	45.9	22	chr17	413681	.	GAGGCCCTCAAGGGTTTCCACATTGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCCGACCCCA	G	45.9	.	AC=1;AF=0.1;AN=10;DP=182;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=58.08;QD=22.95;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:12,0:12:0:.:.:0,0,329:.	4	0	1	2
chr17	413741	413741	A	0	exonic	C17orf97	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	223.01	16	chr17	413741	.	A	*	223.01	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.955;DP=195;ExcessHet=0;FS=12.366;MLEAC=2;MLEAF=0.167;MQ=58.49;MQRankSum=1.62;QD=7.69;ReadPosRankSum=0.057;SOR=0.027	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:29,0:29:47:.:.:0,47,771:.	5	1	0	1
chr17	443309	443309	G	T	exonic	RFLNB	.	unknown	UNKNOWN	.	431	1079	11	1	0	13	0.00598802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	.	.	0.00159744	0.0009	0	0.0003	0	0	7.535e-05	0	0.0064	0.0008085	125	154602	rs532873330	0.0005	0.0005	0.0003	0.0007	0.0066	0.0004	0.0004	0.0062	0.0060	0	2.236e-05	0	0	0	0.0026	3.598e-05	0.0006	0.0066	0.0002	0.0002	7.708e-05	0.0003	0.0056	0.0001	0.0001	0.0039	0.0034	0	0	6.535e-05	0	0	0	0	4.409e-05	0	0.0056	0.002	0.72154	D	0.004	0.74150	D	.	.	.	.	.	.	0.000000	0.84330	D	0.043646	.	.	.	.	.	.	.	.	.	-4.67	0.79571	D	.	.	0.029	0.82840	D	0.502	0.81183	D	8	0.012968004	0.00277	T	.	.	.	0.367	0.68670	.	.	0.355865052028	0.35192	0.6356221462801696	0.63496	.	.	0.593125343323	0.51935	T	.	.	.	-0.309287	0.07811	T	-0.21318	0.53391	T	0.171437484469659	0.18677	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.704	0.73140	P	.	.	4.682362	0.74951	26.2	0.99444461311126386	0.64921	0.98916	0.88583	D	AEFDBI	0.957891	0.97735	D	0.878780277867829	0.90680	10.51606	0.858570267300887	0.93506	12.08844	0.999999999024484	0.74766	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	7.736000	0.83883	11.773000	0.95911	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.854	0.92213	747	0.52260	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.008621	0.009146	0.003788	0.07143	959.45	38	chr17	443309	.	G	T	959.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.761;DP=273;ExcessHet=0;FS=1.713;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-1.013;SOR=0.517	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1232	6	0	1	0
chr17	770479	770479	C	T	exonic	GLOD4	.	nonsynonymous SNV	GLOD4:NM_001366248:exon6:c.G404A:p.G135D,GLOD4:NM_001366249:exon6:c.G545A:p.G182D,GLOD4:NM_001366250:exon6:c.G545A:p.G182D,GLOD4:NM_016080:exon6:c.G572A:p.G191D,GLOD4:NM_001366247:exon7:c.G617A:p.G206D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.012091147406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.983e-07	6.159e-06	0	1.4e-06	1.166e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.166e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.08286	T	0.235	0.43913	T	0.95	0.53885	P	0.57	0.49854	P	0.000000	0.84330	D	0.093279	1	0.81001	D	.	.	.	0.91	0.63568	T	-1.49	0.36385	N	0.652	0.66272	-1.0021	0.29313	T	0.148	0.47416	T	10	0.6541439	0.69775	D	0.012091	0.30348	T	0.262	0.57482	0.518	0.61915	0.802132457166	0.80028	0.45420730303847134	0.45338	0.18525202041	0.20827	0.523134887218	0.42067	T	0.027678	0.20215	T	0.267063	0.80177	D	0.145841	0.79920	D	0.920182168483734	0.57924	D	0.832017	0.49964	T	0.19070086	0.40666	0.33302605	0.59144	0.19070086	0.40666	0.33302605	0.59144	-2.266	0.04373	T	.	.	0.086	0.15698	B	.;.;.;.	.;.;.;.	2.200683	0.28064	17.67	0.96519232803555233	0.30108	0.98220	0.80657	D	AEFDBI	0.678869	0.64309	D	-0.0382252595557957	0.40130	2.377999	-0.00460686020590304	0.39506	2.343465	0.999999999764769	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	5.79	0.91751	3.067000	0.49706	1.012000	0.23339	0.599000	0.40250	0.942000	0.32722	0.001000	0.17328	0.040000	0.14268	0.0:1.0:0.0:0.0	19.020	0.92887	949	0.11373	.;Vicinal oxygen chelate (VOC) domain;Vicinal oxygen chelate (VOC) domain;Vicinal oxygen chelate (VOC) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1350.49	37	chr17	770479	.	C	T	1350.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.93;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=-0.644;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1277	6	0	1	0
chr17	1470326	1470326	C	T	exonic	MYO1C	.	nonsynonymous SNV	MYO1C:NM_001080779:exon24:c.G2375A:p.R792Q,MYO1C:NM_001080950:exon24:c.G2318A:p.R773Q,MYO1C:NM_001363855:exon24:c.G2303A:p.R768Q,MYO1C:NM_033375:exon24:c.G2270A:p.R757Q	.	.	.	.	.	.	.	.	.	.	.	4027083	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.204	0.0935641983909	.	.	5.912e-05	0	0	0	0	0	0	0.0001	2.59e-05	4	154602	rs752658541	6.89e-05	6.382e-05	8.447e-05	5.286e-05	0.0011	5.701e-05	5.277e-05	0.0005	0.0004	6.669e-05	0.0007	0	0	6.5e-05	0.0011	3.494e-05	0.0003	3.866e-05	6.996e-05	6.3e-05	8.269e-05	5.568e-05	0.0005	3.403e-05	2.468e-05	0.0002	0.0001	0	0	0.0005	0	0	0	0	3.48e-05	0	0.0003	0.064	0.36912	T	0.123	0.35710	T	0.001	0.07471	B	0.001	0.06944	B	0.000169	0.48594	N	0.209140	0.988838	0.24366	N	1.445	0.36358	L	-2.61	0.89953	D	-1.15	0.29525	N	0.126	0.12484	-0.4989	0.68689	T	0.480	0.80098	T	10	0.09219685	0.16214	T	0.093564	0.76096	D	0.204	0.49076	.	.	0.715157034389	0.71265	0.4355596698510164	0.43472	0.178067386009	0.20030	0.230826243758	0.02030	T	0.395087	0.75406	T	-0.318444	0.07026	T	-0.348028	0.39430	T	0.0492585338652134	0.05370	T	0.839216	0.51320	T	0.052797634	0.09900	0.06526116	0.13202	0.052797634	0.09900	0.06526116	0.13201	-6.068	0.46969	T	.	.	0.077	0.11797	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.828114	0.23228	15.94	0.98933217673109164	0.48788	0.11772	0.16852	N	AEFDBI	0.107536	0.21421	N	-0.795465254568917	0.13428	0.6613987	-0.763910130998586	0.15381	0.8086501	0.0384666063667	0.14348	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.89	-0.754	0.10507	0.604000	0.23862	-0.860000	0.07144	-0.187000	0.09635	0.255000	0.24900	0.000000	0.08366	0.475000	0.28453	0.0:0.3385:0.0:0.6615	8.064	0.29812	647	0.63344	.;.;.;IQ motif, EF-hand binding site;IQ motif, EF-hand binding site;.;.;.;IQ motif, EF-hand binding site	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	784.53	42	chr17	1470326	.	C	T	784.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.96;DP=312;ExcessHet=0;FS=0.808;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.44;ReadPosRankSum=2.2;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,33:93:99:0|1:1470318_C_T:795,0,1468:1470318	6	0	1	0
chr17	1474644	1474644	C	T	exonic	MYO1C	.	nonsynonymous SNV	MYO1C:NM_001080779:exon17:c.G1763A:p.R588Q,MYO1C:NM_001080950:exon17:c.G1706A:p.R569Q,MYO1C:NM_001363855:exon17:c.G1691A:p.R564Q,MYO1C:NM_033375:exon17:c.G1658A:p.R553Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	0.15608722653	0.0006	0.000399361	0.0002	0.0014	0	0	0	0	0	0.0004	0.0001488	23	154602	rs45542341	7.32e-05	7.319e-05	7.623e-05	7.014e-05	0.0019	6.181e-05	5.742e-05	0.0015	0.0013	0.0019	8.944e-05	0	0	0	0.0002	1.079e-05	0.0002	0.0002	0.0004	0.0004	0.0004	0.0004	0.0015	0.0003	0.0003	0.0012	0.0011	0.0015	0	6.538e-05	0	0	0	0	2.94e-05	0	0	0.185	0.23905	T	0.284	0.22359	T	0.227	0.36353	B	0.04	0.27432	B	0.000114	0.50451	D	0.201311	0.742156	0.33834	D	1.46	0.36832	L	-2.13	0.86349	D	-0.69	0.19720	N	0.237	0.28381	-0.0222	0.81793	T	0.438	0.77714	T	10	0.02430588	0.00664	T	0.156087	0.83692	D	0.300	0.62068	.	.	0.835192646461	0.83362	0.3160217475481293	0.31515	0.576793255271	0.53631	0.442267745733	0.30887	T	0.183861	0.58141	T	-0.264856	0.12336	T	-0.183303	0.56215	T	0.0532208027183572	0.06057	T	0.968703	0.88660	D	0.15166144	0.34465	0.12777346	0.30751	0.15166144	0.34465	0.12777346	0.30750	-4.636	0.32621	T	.	.	0.069	0.06295	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.695602	0.52675	23.3	0.99838140866958758	0.91886	0.89452	0.49926	D	AEFDGBHCI	0.385654	0.46631	N	-0.119400384872142	0.36549	2.114073	7.67213222914939e-05	0.39720	2.359418	0.999999997508616	0.74766	0.67177	0.52595	0	0.52208	0.09955	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.15	4.18	0.48473	1.656000	0.36971	2.698000	0.34139	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.329000	0.25179	0.0:0.9156:0.0:0.0844	12.011	0.52584	661	0.61838	.;.;.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;.;.;.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1185.44	33	chr17	1474644	.	C	T	1185.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.62;DP=285;ExcessHet=0;FS=0.811;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-0.735;SOR=0.58	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	6	0	1	0
chr17	1578292	1578292	C	T	exonic	SLC43A2	.	nonsynonymous SNV	SLC43A2:NM_001284499:exon8:c.G971A:p.R324Q,SLC43A2:NM_152346:exon12:c.G1382A:p.R461Q,SLC43A2:NM_001284498:exon13:c.G1394A:p.R465Q,SLC43A2:NM_001321364:exon13:c.G1394A:p.R465Q,SLC43A2:NM_001321365:exon13:c.G1394A:p.R465Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.843	0.218424204905	.	0.000199681	3.336e-05	0	0	0	0.0005	0	0.0011	0	3.23e-05	5	154602	rs200077621	3.421e-05	3.42e-05	3.948e-05	2.888e-05	2.319e-05	2.631e-05	2.375e-05	3.85e-06	1.44e-06	0	2.236e-05	0	0	0.0008	0	1.799e-06	0	2.319e-05	5.255e-05	5.249e-05	3.855e-05	6.718e-05	6.543e-05	2.556e-05	1.829e-05	.	.	0	0	6.543e-05	0	0	0.0007	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	3.475	0.92503	M	-1.38	0.80301	T	-3.38	0.66780	D	0.967	0.98840	0.603	0.91940	D	0.740	0.91116	D	10	0.7714093	0.77113	D	0.218424	0.87657	D	0.843	0.95101	.	.	0.874943938404	0.87372	0.9433423011227827	0.94316	1.29516274901	0.82890	0.79159116745	0.80685	T	0.614942	0.87850	D	0.381731	0.88820	D	0.393419	0.91898	D	0.942399621009827	0.61654	D	.	.	.	0.72285837	0.79321	0.6580789	0.79974	0.72285837	0.79322	0.6580789	0.79975	-10.718	0.83033	D	.	.	0.985	0.92137	P	.;.;.	.;.;.	5.816352	0.93679	33	0.99936358043391027	0.99621	0.97910	0.78054	D	AEFGBI	0.905839	0.85786	D	0.810544612963638	0.86764	8.990459	0.721601016486152	0.84021	8.176829	0.999999999999985	0.74766	0.661447	0.50134	0	0.658105	0.61773	0	0.570548	0.19454	0	0.567339	0.31927	0	.	.	5.75	5.75	0.90390	7.905000	0.86479	7.613000	0.61989	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.398000	0.26737	0.0:1.0:0.0:0.0	19.553	0.95320	340	0.86005	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	547.83	34	chr17	1578292	.	C	T	547.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.63;DP=239;ExcessHet=0;FS=3.786;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-1.041;SOR=0.808	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr17	1635557	1635557	G	A	exonic	SCARF1	.	nonsynonymous SNV	SCARF1:NM_003693:exon11:c.C1694T:p.P565L,SCARF1:NM_145350:exon11:c.C1657T:p.R553C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0349738563669	0.0018	0.00219649	0.0006	0.0048	0.0020	0	0	0	0.0012	6.104e-05	0.0005757	89	154602	rs61738532	0.0002	0.0002	0.0002	0.0002	0.0043	0.0002	0.0002	0.0038	0.0035	0.0043	0.0019	0	0	0	0.0005	2.698e-06	0.0004	9.276e-05	0.0013	0.0013	0.0014	0.0012	0.0044	0.0012	0.0011	0.0039	0.0037	0.0044	0	0.0009	0	0	0	0	4.41e-05	0	0	0.004	0.72154	D	0.333	0.18395	T	0.756	0.43409	P	0.098	0.30479	B	0.014365	0.28553	N	0.167298	0.97165	0.38887	D	.	.	.	1.3	0.35590	T	-3.16	0.64246	D	0.298	0.43995	-0.8798	0.49778	T	0.098	0.36625	T	9	0.008246392	0.00187	T	0.034974	0.56039	D	0.065	0.18881	.	.	0.629422899898	0.62639	0.13930746789703333	0.13853	0.444331026458	0.44345	0.556764423847	0.46811	T	0.197352	0.55400	T	-0.540226	0.00334	T	-0.548233	0.17495	T	0.0507543840835097	0.05632	T	.	.	.	0.11406204	0.26931	0.13809113	0.32989	0.11406204	0.26931	0.13809113	0.32988	-4.306	0.28260	T	.	.	0.082	0.08560	B	.;.	.;.	2.825342	0.37236	20.4	0.99829796452788355	0.91198	0.95041	0.63223	D	AEFDBI	0.497781	0.53216	N	0.350985956758648	0.58793	4.053671	0.394116851794064	0.61201	4.316999	0.917929536004486	0.26556	0.67177	0.52595	0	0.588066	0.40923	0	0.645312	0.48771	0	0.711	0.71501	0	.	.	5.21	5.21	0.72005	3.442000	0.52663	7.561000	0.60481	0.596000	0.33519	0.998000	0.41325	1.000000	0.68203	0.273000	0.23843	0.0:0.0:1.0:0.0	14.295	0.65855	506	0.75555	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1035.44	31	chr17	1635557	.	G	A	1035.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.858;DP=241;ExcessHet=0;FS=3.807;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.26;ReadPosRankSum=0.322;SOR=0.333	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr17	1727213	1727213	C	T	exonic	WDR81	.	nonsynonymous SNV	WDR81:NM_001163809:exon1:c.C2254T:p.P752S	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, Autosomal recessive	0	1511	9	2	0	13	0.00428336	.	.	.	727020	not_provided|Cerebellar_ataxia,_intellectual_disability,_and_dysequilibrium_syndrome_2	MedGen:C3661900|MONDO:MONDO:0012430,MedGen:C2750234,OMIM:610185,Orphanet:1766	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.027	0.0124618513485	.	0.000998403	0.0019	0	0	0	0	0.0014	0.0056	0.0031	0.0004916	76	154602	rs200781463	0.0015	0.0014	0.0014	0.0015	0.0054	0.0014	0.0014	0.0039	0.0034	0.0002	0.0010	0.0035	0	0.0008	0.0054	0.0015	0.0014	0.0021	0.0012	0.0012	0.0010	0.0013	0.0029	0.0010	0.0010	0.0018	0.0014	0.0002	0	0.0010	0.0043	0	0.0008	0.0034	0.0016	0.0019	0.0029	0.403	0.10378	T	0.227	0.25362	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.695	0.17993	N	0.8	0.48769	T	-0.34	0.12661	N	0.075	0.04913	-1.0340	0.19173	T	0.076	0.30492	T	6	0.005992919	0.00134	T	0.012462	0.31052	T	0.027	0.05988	.	.	0.446010312102	0.44222	0.1618985332002978	0.16110	0.462113211876	0.45742	0.283152282238	0.07936	T	0.012492	0.10973	T	-0.532944	0.00369	T	-0.54479	0.17829	T	0.0131296711042523	0.00231	T	0.672833	0.28129	T	0.061643362	0.12789	0.0661384	0.13507	0.061643362	0.12789	0.0661384	0.13506	-5.004	0.36883	T	.	.	0.104	0.18828	B	.	.	1.260675	0.16584	12.63	0.70272724247983298	0.09241	0.20108	0.20918	N	AEFBI	0.158121	0.28373	N	-0.346179257426131	0.27413	1.503801	-0.389701120661279	0.25303	1.390671	0.972692414297421	0.29392	0.631515	0.41029	0	0.697927	0.68747	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	5.62	4.61	0.56724	1.170000	0.31493	1.801000	0.28882	0.599000	0.40250	0.001000	0.13787	0.041000	0.21590	0.317000	0.24900	0.1451:0.4879:0.367:0.0	10.161	0.42024	665	0.61472	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006085	0.011111	0.004854	0.008333	0.000000	0.000000	0.000000	0.008197	0.07143	1011.46	35	chr17	1727213	.	C	T	1011.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.075;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.39;ReadPosRankSum=-1.321;SOR=0.787	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1072	6	0	1	0
chr17	1800208	1800208	C	T	exonic	SMYD4	.	nonsynonymous SNV	SMYD4:NM_052928:exon5:c.G1186A:p.G396R	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0101102630972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.31987	T	0.121	0.36101	T	0.171	0.28729	B	0.074	0.28220	B	0.236725	0.15801	N	0.624103	1	0.08975	N	2.34	0.67151	M	2.89	0.14531	T	-1.02	0.26843	N	0.167	0.17691	-1.0063	0.28065	T	0.031	0.13374	T	10	0.14065659	0.26734	T	0.01011	0.26258	T	0.085	0.24743	0.314	0.28935	0.42748209135	0.42367	0.4625479779397943	0.46173	0.12648458136	0.14259	0.295255929232	0.09696	T	0.005688	0.05139	T	-0.255656	0.13414	T	-0.605008	0.12394	T	0.188173071388306	0.19736	T	0.566543	0.21547	T	0.04268936	0.06520	0.06142616	0.11860	0.04268936	0.06520	0.06142616	0.11859	-3.61	0.18002	T	.	.	0.086	0.13503	B	.;.	.;.	0.817910	0.11887	8.455	0.87427164609840502	0.17219	0.26979	0.23147	N	AEFBI	0.087522	0.17747	N	-0.649511303009464	0.17476	0.899521	-0.674111003305836	0.17610	0.9371176	0.0905794754303167	0.16113	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.17	4.11	0.47350	0.310000	0.19112	-0.138000	0.11547	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.145:0.7158:0.1392:0.0	11.084	0.47295	758	0.50837	SET domain|SET domain;SET domain|SET domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1168.44	35	chr17	1800208	.	C	T	1168.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.654;DP=316;ExcessHet=0;FS=2.385;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=0.394;SOR=0.694	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1027	6	0	1	0
chr17	2057111	2057113	GGC	-	exonic	HIC1	.	nonframeshift deletion	HIC1:NM_001098202:exon2:c.478_480del:p.G167del,HIC1:NM_006497:exon2:c.421_423del:p.G148del	.	0	205	21	0	0	21	0.0487239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1289	.	0.0021	0	0	0	0	0.0026	0.05	0.0011	0.0002305	6	26028	rs769002012	0.0008	0.0062	0.0006	0.0010	0.0042	0.0008	0.0008	0.0037	0.0035	0.0005	0.0017	0.0013	0.0005	0.0020	0.0008	0.0006	0.0010	0.0042	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	2.412e-05	0	0.0003	0	0.0002	9.612e-05	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103576	0.115385	0.120370	0.074468	0.100000	0.097561	0.084615	0.137168	0.08333	59.26	22	chr17	2057110	.	GGGC	G	59.26	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.31;DP=161;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.69;ReadPosRankSum=0.768;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,105,1204:.	5	0	1	1
chr17	2375626	2375626	C	A	exonic	SGSM2	.	nonsynonymous SNV	SGSM2:NM_001098509:exon17:c.C2100A:p.F700L,SGSM2:NM_001346700:exon17:c.C2100A:p.F700L,SGSM2:NM_014853:exon18:c.C2235A:p.F745L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.0279362775324	.	.	8.269e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs113308954	1.368e-06	1.368e-06	0	2.75e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.608	0.05501	T	0.647	0.06948	T	0.986	0.65571	D	0.819	0.73157	P	0.000000	0.84330	D	0.000000	0.999966	0.52935	D	1.71	0.44315	L	2.75	0.11622	T	-0.8	0.24676	N	0.715	0.71765	-1.0554	0.12934	T	0.042	0.17869	T	10	0.20285776	0.36420	T	0.027936	0.50686	D	0.210	0.50028	0.15	0.05339	0.0846915920261	0.08053	0.21722610162973857	0.21638	0.426338953977	0.43007	0.772602260113	0.77815	T	0.009254	0.08439	T	-0.259118	0.13002	T	-0.513128	0.20995	T	0.229401041066081	0.21923	T	0.950405	0.81010	D	0.09084021	0.21269	0.09748153	0.23204	0.09084021	0.21269	0.09748153	0.23204	1.92	0.00056	T	.	.	0.906	0.87672	P	.;.;.	.;.;.	2.361714	0.30291	18.39	0.97469736795464013	0.34131	0.56307	0.30083	D	AEFDBI	0.501539	0.53433	D	-0.856498082265056	0.11890	0.5764055	-0.972106491747984	0.10414	0.5243814	0.999074693322547	0.38370	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.16	-3.0	0.05148	-0.822000	0.04555	-2.626000	0.03534	-1.022000	0.01727	0.032000	0.20554	0.000000	0.08366	0.972000	0.54974	0.0:0.6401:0.0:0.3599	12.318	0.54291	675	0.60470	.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr17	2375626	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1009	6	1	0	0
chr17	2692410	2692410	C	A	exonic	CLUH	.	nonsynonymous SNV	CLUH:NM_001366661:exon22:c.G3511T:p.A1171S,CLUH:NM_001366662:exon22:c.G3394T:p.A1132S,CLUH:NM_015229:exon22:c.G3508T:p.A1170S	.	397	1120	5	0	0	5	0.00222717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	.	.	0.00499201	0.0047	0	0	0	0	2.02e-05	0.0049	0.0326	0.0030853	477	154602	rs374574637	0.0015	0.0015	0.0009	0.0022	0.0247	0.0015	0.0015	0.0238	0.0235	2.991e-05	0	0	2.522e-05	0	0.0010	2.07e-05	0.0014	0.0247	0.0007	0.0007	0.0004	0.0010	0.0217	0.0006	0.0006	0.0184	0.0171	9.622e-05	0	6.533e-05	0	0	0	0	1.47e-05	0	0.0217	0.381	0.11156	T	0.708	0.05563	T	0.001	0.07471	B	0.014	0.16862	B	0.000093	0.51296	D	0.175549	0.894365	0.36024	D	0.955	0.23872	L	-3.47	0.94546	D	-0.63	0.18459	N	0.3	0.33904	0.013	0.82523	D	0.676	0.88789	D	10	0.01041466	0.00232	T	.	.	.	0.295	0.61502	0.484	0.56621	0.520009876369	0.51646	0.05674007720537677	0.05615	0.285566892373	0.30966	0.502711713314	0.39205	T	0.289065	0.73916	T	-0.312979	0.07488	T	-0.202752	0.54385	T	0.0224812488939911	0.00963	T	0.816118	0.47137	T	0.043311667	0.06728	0.06270032	0.12309	0.043311667	0.06728	0.06270032	0.12308	-3.113	0.11446	T	.	.	0.080	0.09191	B	.;.;.	.;.;.	2.698409	0.35241	19.85	0.96920347433293241	0.31613	0.83072	0.42221	D	AEFDBCI	0.474616	0.51881	N	-0.200092575555859	0.33129	1.876182	-0.0301639275701185	0.38358	2.258852	0.0153334652626431	0.12702	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.94	3.94	0.44807	1.092000	0.30538	2.706000	0.34198	0.596000	0.33519	0.987000	0.36337	1.000000	0.68203	0.985000	0.61073	0.0:0.8372:0.0:0.1628	9.438	0.37814	911	0.21964	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004555	0.000000	0.000000	0.000000	0.000000	0.000000	0.006135	0.026718	0.07143	1008.63	33	chr17	2692410	.	C	A	1008.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.309;DP=247;ExcessHet=0;FS=1.962;MLEAC=1;MLEAF=0.071;MQ=59.73;MQRankSum=1.14;QD=13.63;ReadPosRankSum=0.452;SOR=0.493	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1016	6	0	1	0
chr17	2711604	2711604	G	A	exonic	CLUH	.	nonsynonymous SNV	CLUH:NM_001366661:exon1:c.C58T:p.H20Y,CLUH:NM_015229:exon1:c.C58T:p.H20Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.601e-06	2.052e-06	2.231e-06	5.199e-06	0.0012	9.6e-07	2.7e-07	0.0002	9.112e-05	0	0	0	0	0	0.0012	0	3.664e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.94	0.43672	T	.	.	.	.	.	.	.	.	.	.	.	.	0.14581352	0.27654	T	.	.	.	.	.	.	.	0.603376289789	0.60021	.	.	.	.	.	.	.	0.014382	0.12256	T	-0.265275	0.12289	T	-0.618825	0.11277	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.19998	B	.	.	2.660117	0.34655	19.69	0.97078719905484312	0.32272	0.85187	0.44298	D	AEFGBHCI	0.216287	0.34155	N	.	.	.	.	.	.	0.999999999997328	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.619478	0.44681	0	0.492483	0.08430	1	.	.	4.09	3.11	0.34883	3.858000	0.55690	7.154000	0.57685	0.540000	0.25189	0.996000	0.39380	1.000000	0.68203	0.906000	0.44173	0.0:0.0:0.7856:0.2144	9.311	0.37065	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	497.49	55	chr17	2711604	.	G	A	497.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.516;DP=241;ExcessHet=0;FS=2.361;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=0.085;SOR=0.371	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1003	6	0	1	0
chr17	3005959	3005959	C	T	exonic	RAP1GAP2	.	nonsynonymous SNV	RAP1GAP2:NM_001100398:exon15:c.C1232T:p.P411L,RAP1GAP2:NM_001330058:exon16:c.C1220T:p.P407L,RAP1GAP2:NM_015085:exon16:c.C1277T:p.P426L	.	.	.	.	.	.	.	.	.	.	.	3315554	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.237	0.0664559043843	.	0.000199681	8.281e-05	0.0001	0.0006	0	0.0002	1.498e-05	0	0	7.76e-05	12	154602	rs199628910	4.105e-05	4.173e-05	3.268e-05	4.951e-05	0.0005	3.245e-05	2.92e-05	0.0003	0.0003	8.961e-05	0.0005	3.826e-05	2.519e-05	0	0.0005	1.889e-05	0.0001	1.159e-05	4.603e-05	4.594e-05	3.859e-05	5.38e-05	0.0002	2.111e-05	1.528e-05	7.99e-06	2.99e-06	4.82e-05	0	6.552e-05	0	0.0002	0	0	2.941e-05	0.0005	0	0.073	0.35349	T	0.21	0.29153	T	0.081	0.27540	B	0.03	0.21741	B	0.021008	0.26919	N	0.452099	0.997131	0.43655	D	1.945	0.52268	M	-3.25	0.93532	D	-4.83	0.80943	D	0.141	0.16586	0.097	0.84116	D	0.675	0.88744	D	10	0.05378446	0.05624	T	0.066456	0.69879	D	0.237	0.54074	.	.	0.522894238874	0.51935	0.45188695258657624	0.45106	0.531385712823	0.50641	0.381084799767	0.22410	T	0.082536	0.83802	T	-0.26636	0.12166	T	-0.273212	0.47495	T	0.0446530773085331	0.04539	T	0.941106	0.78939	D	0.088105455	0.20541	0.13645558	0.32643	0.088105455	0.20540	0.13645558	0.32642	-8.762	0.66172	D	.	.	0.075	0.12276	B	.;.;.;.;.	.;.;.;.;.	1.775204	0.22574	15.67	0.7189592808153894	0.09786	0.36640	0.25579	N	AEFBI	0.090743	0.18385	N	-0.784908688797638	0.13702	0.676942	-0.801896536992546	0.14450	0.7550445	0.972111466973693	0.29343	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	5.34	3.35	0.37468	2.070000	0.41116	0.241000	0.16308	-0.178000	0.10482	0.011000	0.18532	0.000000	0.08366	0.056000	0.15673	0.0:0.7882:0.1365:0.0752	10.203	0.42273	878	0.29785	Rap GTPase activating protein domain|Rap GTPase activating protein domain;.;Rap GTPase activating protein domain|Rap GTPase activating protein domain;.;Rap GTPase activating protein domain|Rap GTPase activating protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	646.44	34	chr17	3005959	.	C	T	646.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.114;DP=240;ExcessHet=0;FS=1.04;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=1.52;SOR=0.457	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1394	6	0	1	0
chr17	3062847	3062847	G	A	exonic	OR1D5	.	nonsynonymous SNV	OR1D5:NM_014566:exon1:c.C761T:p.T254M	.	424	1094	3	1	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0118732806835	.	.	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs2258495	9.238e-05	0.0002	8.713e-05	9.767e-05	0.0008	7.96e-05	7.433e-05	0.0006	0.0006	5.975e-05	8.946e-05	0	0.0003	0	0.0002	3.957e-05	0.0001	0.0008	0.0001	0.0002	0.0001	0.0001	0.0012	7.086e-05	5.744e-05	0.0005	0.0004	4.811e-05	0	0	0	0.0004	0	0	0.0001	0	0.0012	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.999999	0.08975	N	3.455	0.92281	M	-0.63	0.72011	T	.	.	.	0.514	0.54496	.	.	.	.	.	.	.	0.56810117	0.65165	D	0.011873	0.29919	T	.	.	.	.	0.855324636859	0.85392	0.04796168997363756	0.04739	2.62205694876	0.98273	0.253825187683	0.04182	T	0.012907	0.11259	T	-0.066951	0.41814	T	-0.333947	0.41029	T	.	.	.	0.577942	0.20808	T	0.06147208	0.12732	0.21113539	0.45529	0.06147208	0.12731	0.21113539	0.45528	-8.667	0.65530	D	.	.	0.097	0.15609	B	.	.	4.127501	0.61742	24.4	0.9979165206545445	0.87750	0.07938	0.13923	N	AEFGI	0.063302	0.12225	N	.	.	.	.	.	.	7.16935459880942E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.45	3.45	0.38602	2.841000	0.47923	5.627000	0.49103	0.573000	0.29008	0.138000	0.23473	1.000000	0.68203	0.381000	0.26357	0.0:0.0:1.0:0.0	13.955	0.63653	870	0.31527	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	543.44	37	chr17	3062847	.	G	A	543.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=7.4;DP=899;ExcessHet=0;FS=66.738;MLEAC=1;MLEAF=0.071;MQ=49.94;MQRankSum=-7.22;QD=2.76;ReadPosRankSum=-4.027;SOR=5.478	GT:AD:DP:GQ:PL	0/1:165,32:197:99:554,0,4145	6	0	1	0
chr17	3198092	3198092	G	T	exonic	OR1A2	.	nonsynonymous SNV	OR1A2:NM_012352:exon1:c.G574T:p.V192F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00113852408677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.342	0.33490	B	0.272	0.39956	B	0.020955	0.26931	N	0.264932	1	0.08975	N	1.295	0.32453	L	8.72	0.00098	T	-2.19	0.49352	N	0.124	0.11626	-1.0337	0.19268	T	0.000	0.00152	T	10	0.1303258	0.24801	T	0.001139	0.01410	T	0.056	0.15993	0.591	0.71999	0.163833314356	0.15978	0.09568866643588249	0.09500	0.392667314243	0.40446	.	.	.	0.00973	0.08837	T	-0.20087	0.20680	T	-0.526313	0.19657	T	0.904345333576202	0.55779	D	0.943906	0.78806	D	0.2840009	0.51429	0.19236211	0.42745	0.2840009	0.51429	0.19236211	0.42744	-6.104	0.47141	T	.	.	0.158	0.34949	B	.	.	1.928341	0.24491	16.42	0.9841467427535171	0.41212	0.18553	0.20307	N	AEFBI	0.130814	0.24951	N	-0.727167918531347	0.15261	0.7675497	-0.781630407167157	0.14945	0.7835785	5.59768474202171E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.09	3.01	0.33872	2.730000	0.47007	1.957000	0.29917	-0.138000	0.12486	0.781000	0.29485	0.001000	0.17328	0.018000	0.11154	0.7859:0.0:0.2141:0.0	5.905	0.18229	632	0.64850	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	4731.44	38	chr17	3198092	.	G	T	4731.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.32;DP=945;ExcessHet=0;FS=1.226;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=1.05;SOR=0.624	GT:AD:DP:GQ:PL	0/0:174,0:174:99:0,120,1800	6	0	1	0
chr17	3216354	3216354	C	T	exonic	OR1A1	.	nonsynonymous SNV	OR1A1:NM_014565:exon1:c.C734T:p.T245M	.	429	1074	19	0	0	19	0.00876788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	0.0002	0.000399361	0.0021	9.612e-05	0.0004	0	0	0.0011	0.0011	0.0108	0.0017852	276	154602	rs62090945	0.0012	0.0012	0.0009	0.0016	0.0112	0.0012	0.0012	0.0106	0.0104	0.0001	0.0004	0.0006	0	0.0007	0.0038	0.0006	0.0010	0.0112	0.0006	0.0006	0.0004	0.0008	0.0079	0.0005	0.0005	0.0059	0.0052	2.406e-05	0	0.0005	0.0006	0	0.0008	0.0068	0.0005	0.0005	0.0079	0.009	0.57480	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000065	0.52346	D	0.000000	1	0.08975	N	1.435	0.35949	L	1.14	0.38397	T	-3.59	0.69236	D	0.144	0.14480	-1.0576	0.12362	T	0.109	0.39439	T	10	0.010473847	0.00233	T	.	.	.	0.098	0.28162	.	.	0.678187180389	0.67545	0.23792941975773832	0.23706	0.108402233092	0.12225	0.193604499102	0.00295	T	0.012	0.10762	T	-0.53056	0.00381	T	-0.525494	0.19739	T	0.0836626874931054	0.10449	T	0.284972	0.05045	T	0.11131756	0.26307	0.11306539	0.27285	0.11131756	0.26307	0.11306539	0.27285	-5.993	0.46221	T	.	.	0.101	0.17657	B	.;.;.	.;.;.	2.263604	0.28925	17.96	0.99699207915652932	0.80522	0.03538	0.08731	N	AEFBI	0.035229	0.04498	N	-0.0623885657421028	0.39052	2.296755	-0.186504192124276	0.32032	1.818419	6.33953354773996E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.05	2.97	0.33479	-0.347000	0.07799	0.220000	0.16063	-2.544000	0.00250	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6879:0.1495:0.1627	6.460	0.21151	616	0.66398	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	2896.44	77	chr17	3216354	.	C	T	2896.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.55;DP=768;ExcessHet=0;FS=0.475;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-0.603;SOR=0.745	GT:AD:DP:GQ:PL	0/1:136,114:250:99:2907,0,3146	6	0	1	0
chr17	3240793	3240793	C	G	exonic	OR1D4	.	unknown	UNKNOWN	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0105	0.0003	0.0022	0	0.0002	0	0.0001	0.0002305	6	26028	rs767191080	0.0006	0.0007	0.0006	0.0005	0.0162	0.0005	0.0005	0.0151	0.0146	0.0162	0.0004	0	0.0013	0	0.0042	7.83e-05	0.0016	0.0002	0.0028	0.0042	0.0030	0.0026	0.0095	0.0026	0.0025	0.0087	0.0084	0.0095	0	0.0005	0	0.0035	0	0.0034	8.826e-05	0.0043	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	741.53	33	chr17	3240793	.	C	G	741.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.49;DP=340;ExcessHet=0;FS=4.259;MLEAC=1;MLEAF=0.071;MQ=39.87;MQRankSum=-1.13;QD=4.75;ReadPosRankSum=0.8;SOR=0.414	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1219	6	0	1	0
chr17	3241269	3241269	G	A	exonic	OR1D4	.	unknown	UNKNOWN	.	607	913	0	2	0	4	0.00218579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs79945696	6.885e-06	0.0017	5.146e-06	8.636e-06	0.0004	2.96e-06	2.14e-06	7.758e-05	3.399e-05	0.0002	0	0	0	0	0.0004	2.306e-06	0	0	8.628e-06	0.0001	0	1.758e-05	1.914e-05	0	0	.	.	0	0	0	0	0	0	0	1.914e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	183.6	33	chr17	3241269	.	G	A	183.6	.	AC=2;AF=0.143;AN=14;DP=182;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=34.68;QD=31.46;SOR=3.611	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1219:.	6	1	0	0
chr17	3291821	3291821	G	T	exonic	OR3A1	.	nonsynonymous SNV	OR3A1:NM_002550:exon1:c.C762A:p.F254L	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.00264132188494	0.0022	0.00199681	0.0006	0.0062	0.0003	0	0	8.99e-05	0	0	0.0006274	97	154602	rs149299349	0.0003	0.0003	0.0003	0.0002	0.0085	0.0003	0.0002	0.0076	0.0073	0.0085	0.0004	0	0	0	0.0029	2.879e-05	0.0009	3.478e-05	0.0021	0.0021	0.0022	0.0019	0.0070	0.0019	0.0018	0.0064	0.0061	0.0070	0	0.0011	0	0	0	0.0034	2.94e-05	0.0009	0	0.001	0.78490	D	0.058	0.46182	T	0.993	0.65571	D	0.963	0.70837	D	0.000062	0.52346	D	0.000000	0.933627	0.26991	N	1.84	0.48285	L	8.3	0.00261	T	-5.53	0.86073	D	0.587	0.60749	-0.9619	0.38819	T	0.001	0.00378	T	10	0.009197772	0.00208	T	0.002641	0.05377	T	0.121	0.33580	0.622	0.75690	0.562316820711	0.55893	0.19301061887221674	0.19219	0.0516968312214	0.05692	0.489315629005	0.37343	T	0.059653	0.31173	T	-0.497818	0.00588	T	-0.483992	0.24022	T	0.0984520891303399	0.12186	T	0.79842	0.44325	T	0.78402454	0.82902	0.61513245	0.77598	0.78402454	0.82903	0.61513245	0.77599	-6.412	0.49603	T	.	.	0.830	0.82897	P	.;.	.;.	2.751086	0.36062	20.2	0.99821229501280995	0.90414	0.84120	0.43204	D	AEFBCI	0.224738	0.34892	N	0.367668647682924	0.59678	4.149278	0.271799688636224	0.53900	3.556774	2.32346071663641E-5	0.03498	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	5.01	1.95	0.25130	0.047000	0.13941	-0.131000	0.11618	0.596000	0.33519	0.973000	0.34540	0.150000	0.23170	0.018000	0.11154	0.2964:0.0:0.7036:0.0	8.493	0.32271	659	0.61982	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008560	0.005051	0.017663	0.005848	0.000000	0.008621	0.000000	0.000000	0.07143	658.53	33	chr17	3291821	.	G	T	658.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.949;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=0.416;SOR=0.701	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	6	0	1	0
chr17	3543545	3543545	A	G	exonic	TRPV3	.	nonsynonymous SNV	TRPV3:NM_001258205:exon5:c.T395C:p.V132A,TRPV3:NM_145068:exon5:c.T395C:p.V132A	Olmsted syndrome, Autosomal dominant	1	1511	10	0	0	10	0.00329815	.	.	.	328114	Isolated_focal_non-epidermolytic_palmoplantar_keratoderma|not_provided	MONDO:MONDO:0014622,MedGen:C4225339,OMIM:616400,Orphanet:448264|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.151	.	7.7e-05	0.00539137	0.0047	0.0003	0.0003	0.0001	0	4.496e-05	0.0033	0.0340	0.0040232	622	154602	rs139870087	0.0021	0.0021	0.0012	0.0030	0.0332	0.0020	0.0020	0.0322	0.0318	2.987e-05	2.236e-05	0	7.557e-05	0	0.0007	2.608e-05	0.0023	0.0332	0.0010	0.0010	0.0004	0.0016	0.0291	0.0009	0.0008	0.0252	0.0237	0.0001	0	0	0	0.0006	0	0	1.47e-05	0.0005	0.0291	1.0	0.00964	T	0.583	0.12920	T	0.0	0.13644	B	0.002	0.17743	B	0.027061	0.25820	N	0.367561	0.807464	0.29041	N	0.715	0.18665	N	-2.17	0.87591	D	-0.08	0.08187	N	0.078	0.12913	-0.7183	0.59546	T	0.388	0.74298	T	10	0.004003018	0.00077	T	.	.	.	0.151	0.39764	.	.	0.821853393705	0.82017	0.38004091815012153	0.37919	0.203211832339	0.22737	0.501153469086	0.38988	T	0.064	0.32268	T	-0.401881	0.02250	T	-0.324983	0.42026	T	0.0103249717654957	0.00141	T	0.670533	0.29475	T	0.08936931	0.20880	0.08118613	0.18430	0.09146237	0.21431	0.060334153	0.11472	-5.718	0.43853	T	.	.	0.182	0.42820	B	.;.;.;.	.;.;.;.	1.555870	0.19936	14.51	0.40847810486541158	0.02909	0.66927	0.33250	D	AEFGBI	0.182772	0.31010	N	-0.510105010248509	0.21752	1.156696	-0.332243773054126	0.27064	1.499159	0.00466858149891102	0.10663	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.27	4.19	0.48645	1.634000	0.36736	4.681000	0.44321	0.756000	0.94297	0.454000	0.26597	0.784000	0.26805	0.600000	0.31387	0.833:0.0:0.167:0.0	7.988	0.29383	631	0.64944	Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.022727	0.07143	940.83	34	chr17	3543545	.	A	G	940.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.681;DP=282;ExcessHet=0;FS=3.816;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=-0.415;SOR=0.497	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1279	6	0	1	0
chr17	3679660	3679660	C	T	exonic	P2RX5	.	nonsynonymous SNV	P2RX5:NM_001204520:exon10:c.G1117A:p.E373K,P2RX5:NM_175080:exon10:c.G1114A:p.E372K,P2RX5:NM_001204519:exon11:c.G1186A:p.E396K,P2RX5:NM_002561:exon11:c.G1189A:p.E397K	.	402	1087	32	1	0	34	0.0153986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	0.0048	0.0183706	0.0104	0.0035	0.0030	0.0511	0.0006	0.0042	0.0111	0.0274	0.0098964	1530	154602	rs61748727	0.0075	0.0075	0.0070	0.0081	0.0391	0.0074	0.0074	0.0375	0.0368	0.0030	0.0044	0.0110	0.0391	0.0004	0.0130	0.0051	0.0097	0.0289	0.0067	0.0067	0.0062	0.0073	0.0480	0.0064	0.0062	0.0431	0.0412	0.0024	0.0417	0.0085	0.0104	0.0480	0.0008	0.0136	0.0045	0.0061	0.0288	0.085	0.36709	T	0.459	0.15988	T	0.009	0.15093	B	0.005	0.11217	B	0.003163	0.00943	U	4.829560	1	0.08975	N	0.805	0.20218	L	3.58	0.07024	T	-1.03	0.27052	N	0.12	0.16864	-1.0207	0.23486	T	0.013	0.04985	T	10	0.0026265383	0.00040	T	.	.	.	0.027	0.05988	.	.	.	.	0.32909414989104496	0.32822	0.170619428235	0.19229	0.410854518414	0.26575	T	0.023551	0.24544	T	-0.619439	0.00111	T	-0.623828	0.10888	T	0.00460929252969279	0.00049	T	0.527447	0.17405	T	0.043295294	0.06722	0.04209709	0.04935	0.043295294	0.06721	0.04209709	0.04935	-4.164	0.26243	T	.	.	0.080	0.07650	B	.;.;.;.;.;.	.;.;.;.;.;.	0.632734	0.10012	6.765	0.94367969056869849	0.24731	0.04858	0.10594	N	AEFDBCI	0.039617	0.05780	N	-1.0453927655838	0.07678	0.3575069	-1.17833409566815	0.06273	0.3014294	0.0319125723097908	0.14028	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	2.99	-0.74	0.10555	0.032000	0.13620	-0.020000	0.12938	-0.896000	0.02358	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3352:0.286:0.3788	3.804	0.08288	814	0.42100	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014099	0.000000	0.009511	0.008772	0.050000	0.000000	0.012195	0.045455	0.07143	65.44	33	chr17	3679660	.	C	T	65.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.524;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-1.645;SOR=1.179	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr17	3816149	3816149	G	A	exonic	NCBP3	.	nonsynonymous SNV	NCBP3:NM_001114118:exon11:c.C1432T:p.R478C	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00226722738932	0.0002	0.000399361	0.0001	9.634e-05	0.0002	0.0001	0	0.0002	0	0	0.0001229	19	154602	rs147018687	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	9.634e-05	0.0001	0.0001	0	8.946e-05	0	0	0	0.0002	0.0001	0.0001	0	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	4.81e-05	0	6.538e-05	0	0	0	0	0.0003	0	0.0002	0.111	0.29029	T	0.059	0.45961	T	0.0	0.02946	B	0.0	0.01387	B	0.004927	0.33255	N	0.345403	0.999983	0.19238	N	.	.	.	.	.	.	-1.69	0.40274	N	0.155	0.16028	-1.0645	0.10666	T	0.041	0.17700	T	9	0.024825543	0.00697	T	0.002267	0.04342	T	0.064	0.18567	.	.	0.043077524339	0.03247	0.05865203385922802	0.05806	1.12857777397	0.78526	.	.	.	0.006166	0.05608	T	-0.438452	0.01321	T	-0.612537	0.11779	T	0.0440942956575936	0.04437	T	0.844715	0.52235	T	0.074147575	0.16620	0.04339685	0.05390	0.074147575	0.16620	0.04339685	0.05390	-7.305	0.56231	T	.	.	0.069	0.03060	B	.	.	3.109064	0.41930	21.4	0.99390382201330185	0.62292	0.43923	0.27205	N	AEFDBHCI	0.144320	0.26726	N	-0.561601504178301	0.20122	1.058409	-0.444222391245045	0.23712	1.29463	0.715910605135619	0.22874	0.722319	0.85440	0	0.698795	0.70079	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.46	1.92	0.24912	1.036000	0.29837	2.233000	0.31547	0.676000	0.76740	0.037000	0.20830	0.920000	0.28304	0.985000	0.61073	0.0997:0.3086:0.4468:0.1449	3.272	0.06479	799	0.44747	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	631.53	33	chr17	3816149	.	G	A	631.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.48;DP=236;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=0.306;SOR=0.608	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1032	6	0	1	0
chr17	3898516	3898516	T	C	exonic	P2RX1	.	nonsynonymous SNV	P2RX1:NM_002558:exon10:c.A1000G:p.T334A	Bleeding disorder due to P2RX1 defect, somatic	.	.	.	.	.	.	.	.	.	.	4050089	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.136	0.00964639848099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.525e-06	7.525e-06	1.089e-05	4.126e-06	9.893e-06	4.04e-06	2.95e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.893e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.22660	T	0.22	0.25907	T	0.263	0.31569	B	0.182	0.35926	B	0.000002	0.62929	D	0.104096	0.977628	0.39384	D	0.97	0.24054	L	3.68	0.04151	T	-1.38	0.34198	N	0.686	0.69213	-0.9262	0.44688	T	0.013	0.05177	T	10	0.53125465	0.63196	D	0.009646	0.25222	T	0.136	0.36778	0.702	0.83869	0.259761712551	0.25597	0.8093415288982542	0.80889	0.582783069985	0.54019	0.679263949394	0.64162	T	0.308691	0.68076	T	-0.127656	0.31876	T	-0.421145	0.30944	T	0.781643629074097	0.45153	D	0.763224	0.38939	T	0.12878853	0.30099	0.11634142	0.28085	0.12878853	0.30099	0.11634142	0.28084	-8.815	0.66499	D	.	.	0.137	0.29941	B	.	.	3.047941	0.40890	21.3	0.98690112581770284	0.44752	0.92776	0.56517	D	AEFBI	0.703298	0.65939	D	-0.0237511881846423	0.40781	2.427813	0.116648349818331	0.45400	2.803826	0.989153342480002	0.31739	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.12	3.96	0.45097	5.563000	0.67055	7.897000	0.73349	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.1536:0.8464	11.179	0.47845	331	0.86429	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	387.44	55	chr17	3898516	.	T	C	387.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.78;DP=236;ExcessHet=0;FS=2.418;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.04;ReadPosRankSum=1.16;SOR=0.801	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1201	6	0	1	0
chr17	4016379	4016379	T	C	exonic	ZZEF1	.	nonsynonymous SNV	ZZEF1:NM_015113:exon49:c.A8089G:p.M2697V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00693069991174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.22660	T	0.223	0.25670	T	0.017	0.17573	B	0.012	0.16012	B	0.000000	0.84330	D	0.039850	0.997633	0.44054	D	0.865	0.21413	L	2.11	0.19860	T	-1.01	0.26639	N	0.634	0.64733	-1.1005	0.04032	T	0.038	0.16505	T	10	0.21878886	0.38531	T	0.006931	0.18345	T	0.019	0.03383	0.286	0.24440	0.043077524339	0.03247	0.3473451497438877	0.34648	0.159447225297	0.17994	0.485957235098	0.36879	T	0.035086	0.23581	T	-0.181475	0.23516	T	-0.498453	0.22508	T	0.433235079050064	0.30180	T	0.820618	0.47957	T	0.15458994	0.34981	0.19115117	0.42559	0.15458994	0.34981	0.19115117	0.42558	-1.421	0.01610	T	.	.	0.152	0.33527	B	.	.	3.487389	0.48728	22.7	0.98276499983127441	0.39814	0.97559	0.75543	D	AEFDBI	0.616431	0.60299	D	0.0188953010853221	0.42715	2.578913	0.231773065273696	0.51619	3.342859	0.998706030390116	0.37498	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	5.79	0.91751	5.947000	0.69957	7.954000	0.75900	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0712:0.0:0.9288	11.205	0.47993	207	0.91931	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1647.49	33	chr17	4016379	.	T	C	1647.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.792;DP=310;ExcessHet=0;FS=1.403;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-0.452;SOR=0.715	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1262	6	0	1	0
chr17	4181278	4181278	G	T	exonic	ANKFY1	.	nonsynonymous SNV	ANKFY1:NM_001257999:exon16:c.C2342A:p.P781H,ANKFY1:NM_001330063:exon16:c.C2216A:p.P739H,ANKFY1:NM_016376:exon16:c.C2219A:p.P740H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0396473561874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.606	0.31427	T	0.108	0.31472	B	0.139	0.33484	B	0.563998	0.11307	N	0.812903	1	0.20581	N	0.545	0.13751	N	-0.1	0.64264	T	.	.	.	0.341	0.41360	-0.9562	0.39879	T	0.092	0.34983	T	9	0.13677302	0.26020	T	0.039647	0.58928	D	0.184	0.45763	0.292	0.25400	0.392430962328	0.38859	0.19264689830997184	0.19182	0.738080236287	0.63091	0.390292286873	0.23711	T	0.025888	0.19267	T	-0.115742	0.33822	T	-0.404032	0.32915	T	0.22485600464523	0.21703	T	0.934407	0.75457	D	0.07382982	0.16526	0.09255638	0.21819	0.07382982	0.16526	0.09255638	0.21819	-7.032	0.55345	T	.	.	0.081	0.09094	B	.;.;.	.;.;.	2.690029	0.35109	19.81	0.67561114856995785	0.08392	0.71978	0.35249	D	AEFBI	0.125479	0.24199	N	-0.406771651256695	0.25232	1.368157	-0.352214551581917	0.26441	1.460462	0.022961740688827	0.13472	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.43	3.31	0.37025	3.989000	0.56670	6.614000	0.56098	0.676000	0.76740	0.951000	0.33123	0.998000	0.33993	0.796000	0.37562	0.0878:0.0:0.6072:0.305	6.776	0.22804	334	0.86273	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	42.63	33	chr17	4181278	.	G	T	42.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.203;DP=226;ExcessHet=0;FS=30.835;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.7;ReadPosRankSum=0.633;SOR=4.8	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1239:.	6	0	1	0
chr17	4242318	4242318	G	T	exonic	ANKFY1	.	nonsynonymous SNV	ANKFY1:NM_001257999:exon2:c.C267A:p.S89R,ANKFY1:NM_001330063:exon2:c.C141A:p.S47R,ANKFY1:NM_016376:exon2:c.C141A:p.S47R	.	.	.	.	.	.	.	.	.	.	.	3287844	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.0182216991452	.	.	.	.	.	.	.	.	.	.	.	.	.	rs768380060	6.928e-07	6.84e-07	0	1.393e-06	9.046e-07	0	0	.	.	0	0	0	0	0	0	9.046e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.384	0.11050	T	0.504	0.11691	T	0.065	0.32608	B	0.017	0.26930	B	0.100599	0.19879	N	0.576656	1	0.08975	N	1.7	0.43825	L	0.95	0.44065	T	-0.94	0.25118	N	0.301	0.38950	-1.0057	0.28247	T	0.062	0.25708	T	10	0.060667843	0.07487	T	0.018222	0.40210	T	0.033	0.08068	0.354	0.35408	0.404519682234	0.40067	0.2512724917830303	0.25041	0.619236631855	0.56283	0.314351260662	0.12565	T	0.029856	0.21296	T	-0.231948	0.16392	T	-0.570953	0.15361	T	0.0831593870255282	0.10386	T	0.738626	0.35686	T	0.034274433	0.03816	0.057847515	0.10586	0.034274433	0.03816	0.057847515	0.10586	-4.983	0.36655	T	.	.	0.181	0.39511	B	.;.;.	.;.;.	-1.352144	0.00396	0.008	0.91128223404334086	0.20381	0.10090	0.15691	N	AEFBI	0.118474	0.23165	N	-1.47599289962114	0.02020	0.08878323	-1.54019583588535	0.02044	0.09344202	0.0183849653893507	0.13053	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	-4.66	0.03090	-0.619000	0.05668	-4.047000	0.02373	-1.534000	0.00989	0.000000	0.06391	0.000000	0.08366	0.825000	0.38878	0.3815:0.0:0.5239:0.0947	10.485	0.43900	371	0.84287	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	667.53	33	chr17	4242318	.	G	T	667.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.017;DP=217;ExcessHet=0;FS=2.555;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=1.57;SOR=0.358	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1092	6	0	1	0
chr17	4445108	4445108	G	T	exonic	SPNS3	.	nonsynonymous SNV	SPNS3:NM_182538:exon3:c.G342T:p.M114I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0218023767935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.093	0.39799	T	0.121	0.26708	B	0.122	0.32387	B	0.000184	0.48115	D	0.177041	0.998981	0.81001	D	1.03	0.25572	L	0.39	0.57419	T	-2.28	0.50830	N	0.384	0.42541	-0.9659	0.38033	T	0.118	0.41429	T	10	0.3567384	0.52406	T	0.021802	0.44617	T	0.102	0.29158	0.644	0.78117	0.281381271821	0.27740	0.4689228101294111	0.46811	0.215052530456	0.24039	0.388999402523	0.23529	T	0.219707	0.58278	T	-0.0933164	0.37527	T	-0.371819	0.36677	T	0.906210958957672	0.56017	D	0.660434	0.26965	T	0.43777785	0.63259	0.37441382	0.62607	0.43777785	0.63259	0.37441382	0.62607	-7.396	0.56876	T	.	.	0.263	0.49750	B	.	.	2.828218	0.37279	20.5	0.99050888627883249	0.51253	0.88104	0.47887	D	AEFDGBHCI	0.732908	0.67952	D	-0.273609210036551	0.30171	1.679828	-0.192656345341791	0.31806	1.803428	0.9999801222151	0.51787	0.516011	0.20929	0	0.610034	0.51514	0	0.59043	0.30614	0	0.631631	0.49550	0	.	.	4.51	3.51	0.39297	5.392000	0.66020	6.489000	0.55755	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.055000	0.15596	0.0:0.1665:0.8335:0.0	12.815	0.57040	716	0.55970	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	44.44	33	chr17	4445108	.	G	T	44.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.05;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.7;ReadPosRankSum=0.802;SOR=1.08	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr17	4554215	4554215	C	G	exonic	MYBBP1A	.	nonsynonymous SNV	MYBBP1A:NM_001105538:exon3:c.G358C:p.D120H,MYBBP1A:NM_014520:exon3:c.G358C:p.D120H	.	418	1082	21	1	0	23	0.0105167	.	.	.	2814743	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.103	.	0.0076	0.00199681	0.0078	0.0014	0.0012	0	0.0070	0.0118	0.0066	0.0049	0.0074579	1153	154602	rs142004671	0.0080	0.0080	0.0081	0.0079	0.0109	0.0078	0.0078	0.0088	0.0081	0.0013	0.0012	0.0391	0	0.0058	0.0109	0.0083	0.0085	0.0046	0.0062	0.0062	0.0061	0.0062	0.0085	0.0058	0.0057	0.0079	0.0077	0.0015	0	0.0035	0.0352	0	0.0071	0.0102	0.0085	0.0062	0.0070	0.023	0.49613	D	0.031	0.54159	D	0.928	0.52977	P	0.682	0.57594	P	0.210206	0.16384	N	0.640390	1	0.08975	N	2.24	0.63355	M	0.96	0.42888	T	-1.54	0.37375	N	0.333	0.37405	-1.0151	0.25304	T	0.102	0.37593	T	10	0.0081909	0.00186	T	.	.	.	0.103	0.29403	.	.	0.557519804684	0.55412	0.2207044583696533	0.21985	.	.	0.322130858898	0.13744	T	0.036362	0.24073	T	-0.476759	0.00773	T	-0.449646	0.27737	T	0.0315098894913136	0.02228	T	0.90121	0.65680	D	0.07455327	0.16739	0.09663519	0.22970	0.07455327	0.16739	0.09663519	0.22969	-7.802	0.59713	D	.	.	0.155	0.35098	B	.;.	.;.	2.340211	0.29987	18.30	0.99218316548581387	0.55808	0.45620	0.27579	N	AEFGBI	0.214466	0.33993	N	-0.228159475054488	0.31982	1.798906	-0.382606708469777	0.25515	1.403658	0.999905578868255	0.45458	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.25	0.588	0.16630	0.053000	0.14067	0.090000	0.14504	0.599000	0.40250	0.025000	0.20085	0.000000	0.08366	0.830000	0.39126	0.0:0.4527:0.0:0.5473	8.507	0.32356	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007049	0.000000	0.006793	0.026316	0.000000	0.000000	0.003049	0.000000	0.07143	549.63	33	chr17	4554215	.	C	G	549.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.217;DP=217;ExcessHet=0;FS=1.106;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.841;SOR=0.483	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1207	6	0	1	0
chr17	4789661	4789661	T	C	exonic	GLTPD2	.	nonsynonymous SNV	GLTPD2:NM_001375801:exon2:c.T430C:p.W144R,GLTPD2:NM_001014985:exon3:c.T322C:p.W108R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.667	0.160721538564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.99998	0.54805	D	3.205	0.89189	M	.	.	.	-11.22	0.99376	D	0.904	0.90476	-0.3181	0.74475	T	0.405	0.75487	T	9	0.9727106	0.96924	D	0.160722	0.84066	D	0.667	0.87625	0.811	0.92719	0.376745185316	0.37282	0.8541906621204258	0.85382	2.37714289507	0.96994	0.590726017952	0.51596	T	0.347147	0.71531	T	0.336709	0.85614	D	0.245883	0.85425	D	0.999921321868896	0.99732	D	0.536546	0.18022	T	0.8851049	0.90092	0.82128334	0.89621	0.8851049	0.90093	0.82128334	0.89622	-10.486	0.76767	D	.	.	0.931	0.85065	P	.	.	4.801620	0.78026	26.8	0.97841217850051043	0.36332	0.90233	0.51248	D	AEFDGBCI	0.769871	0.70499	D	0.43290596882862	0.63240	4.554048	0.309394967549986	0.56091	3.772058	0.999999927398761	0.74766	0.455138	0.09556	0	0.552344	0.17405	0	0.606884	0.38211	0	0.56751	0.32155	0	.	.	4.19	4.19	0.48645	3.416000	0.52463	7.772000	0.68491	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.100000	0.18284	0.0:0.0:0.0:1.0	9.797	0.39910	382	0.83637	Glycolipid transfer protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr17	4789661	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1101	6	1	0	0
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7280.03	66	chr17	4933907	.	ACCACCCCAGAGCCCAC	*	7280.03	.	AC=7;AF=0.5;AN=14;DP=857;ExcessHet=0.3476;FS=12.078;MLEAC=7;MLEAF=0.5;MQ=59.78;MQRankSum=0;QD=12.34;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:26,44:70:99:.:.:1395,0,529:.	1	1	5	0
chr17	4955525	4955525	-	TCA	exonic	ENO3	.	nonframeshift insertion	ENO3:NM_001193503:exon6:c.657_658insTCA:p.S220_P221insS,ENO3:NM_001374523:exon8:c.786_787insTCA:p.S263_P264insS,ENO3:NM_001374524:exon8:c.813_814insTCA:p.S272_P273insS,ENO3:NM_001976:exon8:c.786_787insTCA:p.S263_P264insS,ENO3:NM_053013:exon8:c.786_787insTCA:p.S263_P264insS	.	0	1514	8	0	0	8	0.00263505	.	.	.	346463	Glycogen_storage_disease_due_to_muscle_beta-enolase_deficiency	MONDO:MONDO:0013046,MedGen:C2752027,OMIM:612932,Orphanet:99849	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00698882	0.0045	9.61e-05	0.0002	0	0	1.499e-05	0.0077	0.0325	0.0021515	56	26028	rs548538086	0.0021	0.0021	0.0012	0.0030	0.0330	0.0020	0.0020	0.0320	0.0316	2.987e-05	4.472e-05	0	0	0	0.0010	2.878e-05	0.0024	0.0330	0.0011	0.0011	0.0006	0.0016	0.0324	0.0009	0.0009	0.0282	0.0266	4.809e-05	0	0	0	0	0	0	2.94e-05	0.0005	0.0324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002518	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	3670.4	33	chr17	4955525	.	G	GTCA	3670.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.803;DP=382;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.22;ReadPosRankSum=0.976;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1530:.	6	0	1	0
chr17	5139468	5139468	G	A	exonic	USP6	.	nonsynonymous SNV	USP6:NM_004505:exon14:c.G1292A:p.G431D,USP6:NM_001304284:exon22:c.G1292A:p.G431D	.	413	1103	6	0	0	6	0.00271248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00199850957167	0.0004	0.000399361	0.0005	0	0.0003	0	0	0.0006	0.0022	0.0007	0.000414	64	154602	rs142493590	0.0005	0.0005	0.0005	0.0005	0.0066	0.0005	0.0004	0.0049	0.0043	0.0001	0.0010	0	0	5.632e-05	0.0066	0.0005	0.0008	0.0008	0.0005	0.0005	0.0004	0.0005	0.0010	0.0004	0.0003	0.0005	0.0004	4.81e-05	0	0.0005	0	0	9.416e-05	0.0238	0.0006	0.0028	0.0010	0.054	0.38633	T	0.064	0.44905	T	0.994	0.66517	D	0.931	0.66596	D	0.000017	0.62929	D	0.181254	1	0.08975	N	0.805	0.20218	L	2.63	0.12884	T	-2.23	0.50012	N	0.147	0.14905	-1.0673	0.10017	T	0.080	0.31675	T	9	0.044258833	0.03363	T	0.001999	0.03615	T	0.055	0.15663	.	.	0.457922657367	0.45416	0.26197083663964393	0.26111	0.936994113655	0.72065	0.52796536684	0.42747	T	0.004477	0.03887	T	-0.547367	0.00303	T	-0.609472	0.12027	T	0.0896623581647873	0.11178	T	0.568143	0.20156	T	0.18641172	0.40049	0.2798918	0.53961	0.18641172	0.40048	0.2798918	0.53960	-4.728	0.33742	T	.	.	0.119	0.33913	B	.;.	.;.	1.907786	0.24231	16.32	0.99097164780422231	0.52371	0.07904	0.13893	N	AEFDBCI	0.060375	0.11468	N	-0.428865830010873	0.24461	1.320999	-0.667665512770636	0.17771	0.9464399	1.16954571823002E-5	0.02871	0.516011	0.20929	0	0.573888	0.26702	0	0.578056	0.29568	0	0.586402	0.36253	0	.	.	0.046	0.046	0.13572	1.040000	0.29888	-4.230000	0.02268	0.249000	0.18320	0.866000	0.30720	0.000000	0.08366	0.079000	0.17189	.	.	.	632	0.64850	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.000000	0.006793	0.017544	0.000000	0.017241	0.000000	0.003788	0.07143	1353.45	53	chr17	5139468	.	G	A	1353.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.16;DP=443;ExcessHet=0;FS=1.423;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=0.997;SOR=0.628	GT:AD:DP:GQ:PL	0/0:90,0:90:99:0,120,1800	6	0	1	0
chr17	5183254	5183254	G	A	exonic	ZNF594	.	nonsynonymous SNV	ZNF594:NM_032530:exon2:c.C1003T:p.R335C	.	410	1111	0	1	0	2	0.000899281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00104059016157	7.9e-05	.	0.0001	0.0001	8.639e-05	0	0	0.0001	0	0.0004	0.0001164	18	154602	rs201111582	5.815e-05	5.883e-05	4.9e-05	6.738e-05	0.0005	4.809e-05	4.431e-05	0.0004	0.0004	5.974e-05	4.472e-05	0	0.0003	1.873e-05	0	1.888e-05	3.311e-05	0.0005	2.631e-05	2.628e-05	1.286e-05	4.039e-05	6.546e-05	8.15e-06	5.14e-06	8.01e-06	3e-06	4.835e-05	0	6.546e-05	0	0	0	0	1.47e-05	0	0	0.212	0.19500	T	0.086	0.40909	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	2.42	0.70002	M	2.38	0.15843	T	-2.72	0.57920	D	0.051	0.02366	-0.9686	0.37489	T	0.037	0.15943	T	9	0.04911521	0.04456	T	0.001041	0.01167	T	0.011	0.01250	.	.	0.0846915920261	0.08053	0.019411512469134636	0.01895	0.0116602894049	0.01096	0.254263818264	0.04230	T	0.032716	0.22609	T	-0.583382	0.00184	T	-0.747804	0.03572	T	0.0176849919258588	0.00499	T	0.00241794	0.00006	T	0.07132839	0.15784	0.06350669	0.12589	0.07132839	0.15783	0.06350669	0.12588	-4.945	0.36237	T	.	.	0.162	0.36073	B	.;.	.;.	0.642080	0.10104	6.852	0.6363562178963339	0.07276	0.00000	0.00017	N	AEFDBHCI	0.025832	0.01836	N	-1.30165498590397	0.03657	0.1637334	-1.47362665519532	0.02563	0.1180756	0.0119788966067765	0.12262	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.567892	0.33627	0	.	.	2.5	-4.1	0.03674	-3.251000	0.00597	-11.266000	0.00620	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5081:0.0:0.2268:0.2652	3.518	0.07288	523	0.74147	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1877.49	45	chr17	5183254	.	G	A	1877.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.17;DP=395;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=0.81;SOR=0.701	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	6	0	1	0
chr17	5183886	5183886	T	C	exonic	ZNF594	.	nonsynonymous SNV	ZNF594:NM_032530:exon2:c.A371G:p.N124S	.	428	1091	3	0	0	3	0.001373	.	.	.	3635846	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.138	0.00170710645567	.	.	3.322e-05	0	0	0	0	1.503e-05	0	0.0002	2.59e-05	4	154602	rs757679321	3.353e-05	3.352e-05	3.132e-05	3.577e-05	0.0003	2.567e-05	2.313e-05	0.0002	0.0002	0	2.241e-05	0	0	0	0.0003	9.893e-06	9.941e-05	0.0003	4.595e-05	4.593e-05	3.854e-05	5.369e-05	0.0004	2.107e-05	1.526e-05	7.29e-05	3.029e-05	0	0	0	0	0	0	0.0068	4.41e-05	0	0.0004	0.014	0.53172	D	0.006	0.70582	D	0.276	0.31942	B	0.026	0.20792	B	.	.	.	.	0.999781	0.20372	N	0.69	0.16971	N	2.48	0.14657	T	-0.31	0.12099	N	0.041	0.02759	-0.9879	0.33126	T	0.015	0.06234	T	9	0.07601094	0.11819	T	0.001707	0.02856	T	0.138	0.37187	0.389	0.41115	0.21737058555	0.21362	0.0033473666600997193	0.00312	0.0144286539198	0.01369	0.274242013693	0.06702	T	8.5E-4	0.00427	T	-0.557597	0.00262	T	-0.759291	0.03138	T	0.056250497148511	0.06565	T	0.770023	0.39993	T	0.061879873	0.12862	0.07795803	0.17416	0.061879873	0.12862	0.07795803	0.17415	-4.192	0.26635	T	.	.	0.076	0.05935	B	.;.	.;.	2.011332	0.25557	16.81	0.77655837844794007	0.11967	0.03825	0.09167	N	AEBCI	0.317289	0.42132	N	-0.708949456640249	0.15769	0.79765	-0.73181531156047	0.16170	0.8541429	0.00165822802520911	0.08750	0.554377	0.28877	0	0.601575	0.49859	0	0.54472	0.12158	0	0.567892	0.33627	0	.	.	2.37	1.26	0.20534	3.586000	0.53696	1.214000	0.24928	0.665000	0.62972	0.995000	0.38783	0.003000	0.18671	0.003000	0.05239	0.0:0.1547:0.0:0.8453	5.409	0.15639	523	0.74147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	133.44	45	chr17	5183886	.	T	C	133.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.18;DP=260;ExcessHet=0;FS=6.854;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=-0.12;SOR=1.872	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	6	0	1	0
chr17	5363006	5363006	C	T	exonic	RABEP1	.	nonsynonymous SNV	RABEP1:NM_001291581:exon9:c.C1529T:p.T510M,RABEP1:NM_001083585:exon10:c.C1658T:p.T553M,RABEP1:NM_004703:exon10:c.C1658T:p.T553M	.	426	1086	10	0	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	.	.	0.00179712	0.0015	0.0003	8.652e-05	0.0001	0	4.511e-05	0.0022	0.0105	0.0012613	195	154602	rs374594228	0.0007	0.0007	0.0003	0.0012	0.0120	0.0007	0.0007	0.0114	0.0112	2.993e-05	2.236e-05	0	2.52e-05	1.872e-05	0.0007	1.262e-05	0.0005	0.0120	0.0003	0.0003	0.0001	0.0004	0.0077	0.0002	0.0002	0.0057	0.0051	2.408e-05	0	0	0	0	9.441e-05	0	1.47e-05	0.0005	0.0077	0.092	0.31682	T	0.097	0.39190	T	0.144	0.27759	B	0.039	0.23607	B	0.000004	0.62929	D	0.104278	0.999993	0.58761	D	0.755	0.19153	N	1.33	0.35031	T	-0.18	0.09796	N	0.461	0.49783	-1.0867	0.06102	T	0.054	0.22921	T	10	0.009521872	0.00215	T	.	.	.	0.134	0.36365	0.642	0.77903	0.314436011497	0.31061	0.40679981457577513	0.40595	.	.	0.745171904564	0.73733	T	0.098707	0.40279	T	-0.405872	0.02118	T	-0.345395	0.39732	T	0.0477543146671593	0.05099	T	0.943306	0.78595	D	0.10942916	0.25872	0.099683255	0.23809	0.10942916	0.25871	0.099683255	0.23808	-3.458	0.17182	T	.	.	0.098	0.27642	B	.;.	.;.	4.973395	0.82330	27.8	0.98915920643194	0.48454	0.96176	0.67882	D	AEFBI	0.488417	0.52675	N	-0.184394770695045	0.33783	1.92066	-0.0248319835592015	0.38596	2.276241	0.996940744120789	0.35138	0.706548	0.73137	0	0.724815	0.89359	0	0.658105	0.52812	0	0.714379	0.83352	0	.	.	5.61	4.63	0.57175	3.952000	0.56399	7.697000	0.66086	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.989000	0.64315	0.1507:0.7749:0.0:0.0744	8.840	0.34296	504	0.75712	Rabaptin, GTPase-Rab5 binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	653.49	34	chr17	5363006	.	C	T	653.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.901;DP=234;ExcessHet=0;FS=2.128;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=-1.034;SOR=1.09	GT:AD:DP:GQ:PL	0/1:37,29:66:99:664,0,823	6	0	1	0
chr17	6425710	6425710	C	A	exonic	AIPL1	.	nonsynonymous SNV	AIPL1:NM_001033054:exon5:c.G716T:p.R239L,AIPL1:NM_001033055:exon5:c.G725T:p.R242L,AIPL1:NM_001285399:exon6:c.G869T:p.R290L,AIPL1:NM_001285400:exon6:c.G839T:p.R280L,AIPL1:NM_001285401:exon6:c.G833T:p.R278L,AIPL1:NM_001285402:exon6:c.G788T:p.R263L,AIPL1:NM_014336:exon6:c.G905T:p.R302L	Cone-rod dystrophy, Autosomal recessive;Leber congenital amaurosis 4, Autosomal recessive;Retinitis pigmentosa, juvenile, Autosomal recessive	1	1480	38	3	0	44	0.0146471	.	.	YES	76620	AIPL1-related_disorder|Leber_congenital_amaurosis_1|not_specified|not_provided|Leber_congenital_amaurosis_4	MedGen:CN239169|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011458,MedGen:C1858386,OMIM:604393	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.406	0.0394799728856	0.0005	0.00159744	0.0026	9.768e-05	0.0044	0	0	0.0017	0.0089	0.0087	0.0022898	354	154602	rs62637015	0.0016	0.0016	0.0013	0.0018	0.0094	0.0015	0.0015	0.0088	0.0086	0.0001	0.0040	0.0057	2.519e-05	2.106e-05	0.0090	0.0009	0.0025	0.0094	0.0013	0.0013	0.0012	0.0013	0.0085	0.0011	0.0011	0.0064	0.0057	0.0002	0	0.0031	0.0046	0	0	0.0034	0.0010	0.0052	0.0085	0.214	0.22920	T	0.252	0.32144	T	0.003	0.20130	B	0.006	0.19966	B	0.385035	0.13336	N	0.718610	1	0.81001	D	0.55	0.14455	N	-0.61	0.71779	T	-3.36	0.66549	D	0.086	0.16586	-1.1342	0.01592	T	0.132	0.44445	T	10	0.0067735612	0.00154	T	0.03948	0.58831	D	0.406	0.71869	.	.	0.434045841721	0.43020	0.42811152323532936	0.42728	0.233831914557	0.25922	0.291568279266	0.09150	T	0.257128	0.62812	T	-0.272105	0.11523	T	-0.157804	0.58549	T	0.0625567919696403	0.07565	T	0.337566	0.34567	T	0.20028594	0.41999	0.27257818	0.53170	0.2458464	0.47547	0.2033774	0.44410	-2.613	0.15123	T	0.16614760690030306	0.20640	0.129	0.36214	B	.;.;.;.;.;.	.;.;.;.;.;.	1.465544	0.18885	13.98	0.96059384047437069	0.28588	0.16297	0.19323	N	AEFBI	0.206018	0.33232	N	-0.939645002544192	0.09926	0.4720182	-0.905343940075263	0.11967	0.6129108	6.31791550540901E-5	0.04366	0.428477	0.06694	0	0.547309	0.14657	0	0.550215	0.18615	0	0.613276	0.41899	0	.	.	4.98	-3.89	0.03916	-0.221000	0.09208	-2.386000	0.03819	0.599000	0.40250	0.062000	0.21832	0.000000	0.08366	0.997000	0.79791	0.2438:0.3904:0.0:0.3658	4.532	0.11413	872	0.31118	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007056	0.005102	0.009511	0.005848	0.000000	0.008621	0.009146	0.007576	0.07143	2009.45	45	chr17	6425710	.	C	A	2009.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.323;DP=379;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=1.06;SOR=0.735	GT:AD:DP:GQ:PL	0/1:89,91:180:99:2020,0,2051	6	0	1	0
chr17	6800775	6800775	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021C:p.V341L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0148905317491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74e-06	0.0001	2.726e-06	2.755e-06	3.602e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.554	0.38213	P	0.802	0.58266	P	0.000902	0.41128	D	0.246339	0.603536	0.30920	N	3.065	0.87014	M	3.56	0.04696	T	-2.86	0.60188	D	0.591	0.61087	-1.1171	0.02524	T	0.046	0.19879	T	10	0.87548256	0.86836	D	0.014891	0.35296	T	0.254	0.56428	0.784	0.90768	0.246773566709	0.24272	0.5436249433425214	0.54288	0.388407156696	0.40106	0.465720266104	0.34094	T	0.063408	0.32168	T	-0.0577574	0.43257	T	-0.320741	0.42493	T	0.98490309715271	0.76061	D	0.841416	0.51702	T	0.3524521	0.57257	0.4248366	0.66311	0.3524521	0.57257	0.4248366	0.66311	-7.213	0.55575	T	.	.	0.280	0.51350	B	.	.	3.041864	0.40780	21.2	0.99569122627841022	0.72258	0.87246	0.46727	D	AEFDBHCI	0.189729	0.31698	N	0.250775222256954	0.53677	3.535585	0.210393057645656	0.50423	3.234527	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	438.1	100	chr17	6800775	.	C	G	438.1	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-1.479;DP=607;ExcessHet=0.4139;FS=239.519;MLEAC=3;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.8;ReadPosRankSum=2.42;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:113,30:155:99:.:.:297,0,3757:.	1	0	2	4
chr17	7224973	7224973	G	A	exonic	ACADVL	.	nonsynonymous SNV	ACADVL:NM_001033859:exon19:c.G1778A:p.R593Q,ACADVL:NM_001270448:exon19:c.G1616A:p.R539Q,ACADVL:NM_000018:exon20:c.G1844A:p.R615Q,ACADVL:NM_001270447:exon21:c.G1913A:p.R638Q	VLCAD deficiency, Autosomal recessive	0	1484	36	2	0	40	0.0132979	.	.	YES	192609	Very_long_chain_acyl-CoA_dehydrogenase_deficiency|not_provided|ACADVL-related_disorder|not_specified	MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475,Orphanet:26793|MedGen:C3661900|.|MedGen:CN169374	reviewed_by_expert_panel	Likely_benign	.	.	.	.	.	.	.	.	0.397	0.0257525359531	0.0025	0.000798722	0.0028	0.0007	0.0006	0	0.0002	0.0044	0.0022	0.0020	0.002749	425	154602	rs148584617	0.0029	0.0029	0.0029	0.0030	0.0133	0.0028	0.0028	0.0109	0.0101	0.0013	0.0016	0.0116	0	0.0003	0.0133	0.0030	0.0031	0.0022	0.0024	0.0024	0.0024	0.0025	0.0040	0.0022	0.0022	0.0032	0.0029	0.0010	0	0.0040	0.0095	0	0.0003	0.0102	0.0031	0.0057	0.0017	0.49	0.07994	T	0.479	0.11933	T	0.033	0.20350	B	0.001	0.04355	B	0.276169	0.15032	N	0.641728	0.994622	0.23478	N	0.51	0.13489	N	-1.15	0.77964	T	-0.63	0.18459	N	0.656	0.66615	-0.9310	0.43992	T	0.224	0.58805	T	10	0.0066580176	0.00151	T	0.025753	0.48703	D	0.397	0.71163	.	.	0.628003037427	0.62497	0.5823363402754311	0.58162	0.224652461298	0.24998	0.2488938272	0.03652	T	0.136801	0.46939	T	-0.26384	0.12454	T	-0.153237	0.58956	T	0.00398743488164421	0.00042	T	0.822218	0.48193	T	0.11340508	0.26784	0.06592314	0.13431	0.13194865	0.30739	0.053821955	0.09139	-4.889	0.35611	T	0.1058887368373588	0.08449	0.065	0.04975	B	.;.;.	.;.;.	1.509091	0.19389	14.24	0.89813027631458398	0.19124	0.18951	0.20468	N	AEFDBHCI	0.475267	0.51918	N	-0.670574158382941	0.16863	0.862907	-0.582289400952017	0.19955	1.072971	0.999998862530056	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.74	0.885	0.18323	0.045000	0.13898	0.179000	0.15609	0.676000	0.76740	0.053000	0.21524	0.006000	0.19429	0.896000	0.43308	0.4535:0.0:0.5465:0.0	8.384	0.31651	366	0.84579	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.014099	0.000000	0.010870	0.023392	0.000000	0.043103	0.015244	0.011364	0.08333	1178.27	35	chr17	7224973	.	G	A	1178.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.13;DP=283;ExcessHet=0;FS=3.954;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.02;SOR=1.084	GT:AD:DP:GQ:PL	0/1:43,49:92:99:1188,0,912	5	0	1	1
chr17	7226013	7226013	G	A	exonic	DVL2	.	nonsynonymous SNV	DVL2:NM_004422:exon15:c.C2063T:p.P688L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	0.0066	0.00219649	0.0014	0.0163	0.0006	0	0	3.059e-05	0	0	0.0013001	201	154602	rs141433972	0.0004	0.0004	0.0005	0.0004	0.0172	0.0004	0.0004	0.0160	0.0156	0.0172	0.0006	0	0	0	0.0003	6.297e-06	0.0007	2.32e-05	0.0047	0.0047	0.0049	0.0045	0.0165	0.0044	0.0043	0.0155	0.0150	0.0165	0	0.0012	0	0	0	0	1.47e-05	0.0038	0	1.0	0.00964	T	0.743	0.05602	T	0.77	0.43887	P	0.3	0.41053	B	0.005814	0.32491	N	0.293974	1	0.81001	D	2.215	0.62545	M	3.73	0.03982	T	-1.32	0.32991	N	0.379	0.42149	-0.8646	0.50930	T	0.008	0.02679	T	10	0.008080363	0.00183	T	.	.	.	0.062	0.17934	.	.	0.775708395281	0.77364	0.46293720245786524	0.46212	0.748930185141	0.63663	0.619763791561	0.55696	T	0.416906	0.76972	T	-0.474819	0.00794	T	-0.441196	0.28675	T	0.0313612922681034	0.02204	T	0.771423	0.41282	T	0.104987934	0.24821	0.0954656	0.22642	0.104987934	0.24820	0.0954656	0.22641	-5.704	0.43730	T	.	.	0.085	0.20780	B	.;.	.;.	3.063636	0.41155	21.3	0.87202039696875011	0.17060	0.93645	0.58787	D	AEFBHCI	0.595830	0.59023	D	0.167000657250639	0.49619	3.160346	0.262546052904106	0.53367	3.505954	0.999999999999988	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.21	5.21	0.72005	2.845000	0.47954	9.985000	0.82948	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	16.291	0.82580	363	0.84772	Dishevelled C-terminal;Dishevelled C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	405.53	39	chr17	7226013	.	G	A	405.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.106;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=-2.073;SOR=0.61	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1123	6	0	1	0
chr17	7236157	7236165	TCCTCTTCC	-	exonic	PHF23	.	nonframeshift deletion	PHF23:NM_001284517:exon4:c.561_569del:p.E192_E194del,PHF23:NM_001284518:exon4:c.750_758del:p.E255_E257del,PHF23:NM_024297:exon4:c.762_770del:p.E259_E261del	.	379	1135	7	1	0	9	0.0039491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.000998403	0.0009	0.0007	0.0010	0.0021	0.0005	0.0003	0	0.0030	0.0002689	7	26028	rs569508322	0.0006	0.0006	0.0005	0.0007	0.0027	0.0005	0.0005	0.0024	0.0023	0.0006	0.0007	0	0.0013	0.0004	0.0026	0.0004	0.0009	0.0027	0.0009	0.0009	0.0009	0.0009	0.0037	0.0008	0.0007	0.0024	0.0020	0.0011	0.0252	0.0006	0	0.0017	0.0006	0	0.0003	0	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	695.4	36	chr17	7236156	.	TTCCTCTTCC	T	695.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.832;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=0.996;SOR=0.804	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1118	6	0	1	0
chr17	7284493	7284493	C	T	exonic	SLC2A4	.	nonsynonymous SNV	SLC2A4:NM_001042:exon7:c.C736T:p.R246C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.609	0.111775962656	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1176244789	6.156e-06	6.156e-06	2.722e-06	9.625e-06	2.519e-05	2.9e-06	2.1e-06	2.62e-06	1.68e-06	0	0	0	2.519e-05	0	0	6.295e-06	0	1.159e-05	1.314e-05	1.313e-05	2.569e-05	0	4.824e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.003	0.79402	D	0.994	0.77913	D	0.846	0.60472	P	0.000087	0.51296	N	0.124816	1	0.81001	D	.	.	.	-1.04	0.76561	T	-6.27	0.90648	D	0.376	0.42834	0.145	0.84964	D	0.578	0.84791	D	10	0.526695	0.62950	D	0.111776	0.78968	D	0.609	0.84666	0.639	0.77579	0.902297762227	0.90132	0.47478749434733464	0.47397	0.356810192889	0.37416	0.627588152885	0.56804	T	0.78703	0.94430	D	-0.0358129	0.46570	T	-0.120091	0.61796	T	0.908517325109732	0.56312	D	0.958704	0.84427	D	0.7400597	0.80296	0.6466986	0.79341	0.7400597	0.80297	0.6466986	0.79342	-9.126	0.68504	D	.	.	0.193	0.45335	B	.;.;.	.;.;.	4.931553	0.81311	27.5	0.99909847588044132	0.97949	0.92203	0.55175	D	AEFBI	0.586586	0.58457	D	0.581750839538055	0.72037	5.742974	0.493743807712304	0.67573	5.10235	0.00543885121387558	0.10937	0.775728	0.99543	0	0.59043	0.45803	0	0.663124	0.60104	0	0.542086	0.14980	0	.	.	4.88	3.92	0.44525	1.602000	0.36393	4.052000	0.41516	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.1863:0.7185:0.0:0.0952	6.041	0.18958	542	0.72843	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	659.49	36	chr17	7284493	.	C	T	659.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.687;DP=261;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-0.107;SOR=0.811	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,111,1665	6	0	1	0
chr17	7289574	7289574	C	T	exonic	YBX2	.	nonsynonymous SNV	YBX2:NM_015982:exon7:c.G1000A:p.G334S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00782375284607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.056e-06	2.053e-06	1.363e-06	2.755e-06	2.7e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.7e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.541	0.09725	T	0.259	0.31472	B	0.048	0.24975	B	0.685958	0.10217	N	0.867460	0.999827	0.20203	N	0.755	0.19153	N	1.89	0.23688	T	-0.24	0.10833	N	0.309	0.34874	-1.0598	0.11805	T	0.038	0.16246	T	10	0.13291901	0.25298	T	0.007824	0.20747	T	0.049	0.13647	0.212	0.13066	0.102598925029	0.09809	0.08955715465419789	0.08888	0.177617834335	0.19982	0.679652094841	0.64219	T	0.040148	0.25430	T	-0.132436	0.31102	T	-0.428011	0.30161	T	0.36594565552666	0.27640	T	0.455554	0.13039	T	0.109565765	0.25902	0.104424916	0.25079	0.109565765	0.25902	0.104424916	0.25079	-7.974	0.60892	D	.	.	0.085	0.10304	B	.	.	2.357588	0.30237	18.37	0.97400541533306906	0.33770	0.73271	0.35843	D	AEFDBI	0.208708	0.33477	N	-0.134597836478659	0.35891	2.067475	0.0292026916392025	0.41078	2.461867	0.350192096965544	0.19674	0.650006	0.45971	0	0.59043	0.45803	0	0.606735	0.37207	0	0.604944	0.38103	0	.	.	4.58	4.58	0.56077	1.378000	0.33935	4.297000	0.42929	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.8994:0.0:0.1006	9.311	0.37065	523	0.74147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	911.27	34	chr17	7289574	.	C	T	911.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.472;DP=220;ExcessHet=0;FS=2.894;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=23.98;ReadPosRankSum=0.89;SOR=1.252	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1358:.	5	0	1	1
chr17	7314995	7314995	G	A	exonic	GPS2	.	nonsynonymous SNV	GPS2:NM_004489:exon2:c.C58T:p.R20W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0346068783167	.	.	.	.	.	.	.	.	.	.	.	.	.	rs756013916	2.758e-06	6.84e-06	0	5.552e-06	3.612e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	1.313e-05	1.312e-05	1.285e-05	1.342e-05	2.405e-05	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0	0.073	0.34800	T	0.02	0.58613	D	0.986	0.61523	D	0.432	0.45448	B	0.000207	0.47681	U	0.080485	0.81512	0.28952	N	0.805	0.20218	L	0.81	0.48460	T	-3.41	0.67129	D	0.317	0.42541	-0.9623	0.38742	T	0.093	0.35471	T	10	0.2750014	0.45056	T	0.034607	0.55790	D	0.156	0.40720	0.329	0.31357	0.439749870471	0.43592	0.1917068599554375	0.19088	.	.	0.779857993126	0.78906	T	0.227372	0.59264	T	-0.0660043	0.41962	T	-0.332587	0.41181	T	0.990409731864929	0.80624	D	0.921208	0.71813	D	0.28352535	0.51384	0.29859465	0.55893	0.28352535	0.51384	0.29859465	0.55892	-13.061	0.89613	D	.	.	0.946	0.86524	P	.;.;.	.;.;.	5.426140	0.90761	31	0.99871743062983254	0.94902	0.34103	0.24988	N	AEFDGBHCI	0.454958	0.50744	N	0.141143209044324	0.48392	3.052149	0.124434821119437	0.45802	2.836968	0.999999772626973	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.59	1.27	0.20595	2.619000	0.46066	5.905000	0.50941	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1674:0.0:0.5578:0.2748	4.992	0.13566	552	0.72024	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	253.63	46	chr17	7314995	.	G	A	253.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.88;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.51;ReadPosRankSum=0.232;SOR=0.772	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1130	6	0	1	0
chr17	7324168	7324168	C	T	exonic	NEURL4	.	nonsynonymous SNV	NEURL4:NM_001005408:exon11:c.G2002A:p.V668I,NEURL4:NM_032442:exon11:c.G2002A:p.V668I	.	406	1114	2	0	0	2	0.000896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.036525232217	0.0002	0.000199681	0.0005	0	0.0002	0.0001	0	0.0003	0	0.0025	0.0004463	69	154602	rs200658356	0.0003	0.0003	0.0002	0.0004	0.0023	0.0003	0.0002	0.0020	0.0019	0.0004	0.0002	0	0.0001	0	0.0009	0.0001	0.0003	0.0023	0.0001	0.0001	0.0002	9.4e-05	0.0008	9.142e-05	7.698e-05	0.0003	0.0002	4.811e-05	0	6.534e-05	0	0.0002	0	0.0136	0.0001	0	0.0008	0.034	0.44029	D	0.043	0.49942	D	0.988	0.62325	D	0.654	0.52604	P	0.000000	0.84330	D	0.000000	0.99244	0.41647	D	1.905	0.50856	L	-0.82	0.74053	T	-0.73	0.20576	N	0.383	0.42443	-0.2937	0.75161	T	0.376	0.73416	T	10	0.024805784	0.00696	T	0.036525	0.57047	D	0.309	0.63055	.	.	0.226560886239	0.22246	0.41259666267793244	0.41175	0.698823399972	0.60990	0.621321678162	0.55917	T	0.057234	0.30509	T	-0.372615	0.03464	T	-0.31356	0.43276	T	0.0549359491299894	0.06346	T	0.913909	0.69352	D	0.12104486	0.28471	0.08877538	0.20720	0.12104486	0.28471	0.08877538	0.20719	-10.482	0.76744	D	.	.	0.086	0.14431	B	.;.;.	.;.;.	4.192390	0.63195	24.6	0.99646157343262487	0.77005	0.95499	0.64964	D	AEFBCI	0.499225	0.53300	N	0.152492726386751	0.48929	3.099276	0.135545407302438	0.46379	2.884972	0.999997348653258	0.74766	0.712529	0.81865	0	0.779548	0.99637	0	0.779548	0.98927	0	0.691587	0.68394	0	.	.	5.56	4.59	0.56297	5.612000	0.67362	4.847000	0.45339	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.841:0.0:0.159	10.312	0.42898	429	0.80881	.;Neuralized homology repeat (NHR) domain|Neuralized homology repeat (NHR) domain;Neuralized homology repeat (NHR) domain|Neuralized homology repeat (NHR) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	67.44	33	chr17	7324168	.	C	T	67.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.792;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=-1.368;SOR=0.368	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1187	6	0	1	0
chr17	7701460	7701460	G	A	exonic	WRAP53	.	nonsynonymous SNV	WRAP53:NM_018081:exon5:c.G733A:p.V245M,WRAP53:NM_001143990:exon6:c.G733A:p.V245M,WRAP53:NM_001143991:exon6:c.G733A:p.V245M,WRAP53:NM_001143992:exon6:c.G733A:p.V245M	Dyskeratosis congenita, autosomal recessive 3, Autosomal recessive	0	1509	12	1	0	14	0.00461741	0.0417	0.154	.	1105430	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.172	0.0283272748928	0.0002	0.000599042	0.0006	9.669e-05	8.642e-05	0.0001	0.0002	0.0001	0	0.0034	0.0004786	74	154602	rs144944332	0.0003	0.0003	0.0002	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	0.0002	2.236e-05	0	0	9.36e-05	0.0014	5.036e-05	0.0003	0.0032	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0004	0.0003	0.0003	0	6.536e-05	0	0	9.425e-05	0.0034	0.0001	0.0005	0.0010	0.078	0.44694	T	0.093	0.44106	T	0.996	0.73220	D	0.818	0.58969	P	0.007805	0.31183	N	0.261548	0.978613	0.39479	D	.	.	.	-0.33	0.68329	T	-0.11	0.08653	N	0.387	0.43320	-0.4905	0.68991	T	0.297	0.66858	T	10	0.012597799	0.00270	T	0.028327	0.51021	D	0.172	0.43662	.	.	0.229543500084	0.22568	0.35267857499428573	0.35181	0.828428807706	0.67523	0.714484930038	0.69244	T	0.026283	0.19484	T	-0.385467	0.02877	T	-0.328895	0.41593	T	0.033704614872198	0.02588	T	0.756224	0.37950	T	0.025813418	0.01563	0.055137996	0.09615	0.025813418	0.01563	0.055137996	0.09614	-8.776	0.66244	D	.	.	0.204	0.61321	B	.;.;.;.;.	.;.;.;.;.	4.834227	0.78857	27.0	0.99785312700102347	0.87131	0.82770	0.41953	D	AEFDBI	0.207703	0.33385	N	0.324358254153065	0.57400	3.907313	0.277998178042611	0.54258	3.591272	3.95249247150924E-4	0.06820	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.9	2.92	0.32998	2.282000	0.43122	6.681000	0.56310	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.985000	0.61073	0.1075:0.0:0.8925:0.0	9.502	0.38189	402	0.82617	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.002717	0.005848	0.000000	0.008621	0.000000	0.011364	0.07143	2090.44	34	chr17	7701460	.	G	A	2090.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.53;DP=320;ExcessHet=0;FS=3.146;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=0.724;SOR=1.003	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr17	7764236	7764236	C	T	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon20:c.C3299T:p.A1100V	.	420	1099	3	0	0	3	0.00136302	.	.	.	2814852	not_provided|DNAH2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.114	0.00428526571416	0.0019	0.00159744	0.0018	0.0007	0.0010	0	0.0009	0.0029	0	6.791e-05	0.001824	282	154602	rs146533727	0.0022	0.0022	0.0023	0.0021	0.0026	0.0021	0.0021	0.0026	0.0025	0.0003	0.0013	0.0006	0	0.0010	0.0026	0.0026	0.0019	0.0001	0.0019	0.0019	0.0020	0.0018	0.0031	0.0017	0.0016	0.0027	0.0026	0.0006	0	0.0021	0.0012	0	0.0006	0.0068	0.0031	0.0033	0.0006	0.167	0.23095	T	.	.	.	0.032	0.20242	B	0.046	0.24676	B	0.888349	0.07279	N	1.072200	0.961673	0.38248	D	1.975	0.53506	M	1.86	0.24285	T	-2.52	0.54702	D	0.395	0.43610	-1.0856	0.06298	T	0.088	0.33941	T	10	0.014644533	0.00308	T	0.004285	0.10373	T	0.114	0.32008	.	.	0.437850553699	0.43404	0.33954248161697725	0.33867	0.275190507075	0.30004	0.289508849382	0.08850	T	0.231612	0.59798	T	-0.501949	0.00558	T	-0.497782	0.22578	T	0.0313433502590505	0.02201	T	0.709529	0.32034	T	0.06554646	0.14020	0.124509834	0.30010	0.06554646	0.14019	0.124509834	0.30009	-5.892	0.45367	T	.	.	0.120	0.24666	B	.;.	.;.	2.626578	0.34148	19.54	0.99584136865697892	0.73218	0.88062	0.47829	D	AEFDBCI	0.496510	0.53142	N	-0.137227487987935	0.35779	2.059543	-0.0649119117587832	0.36852	2.149991	0.0261956337080102	0.13697	0.497415	0.19182	0	0.59043	0.45803	0	0.315538	0.05692	2	0.542086	0.14980	0	.	.	4.66	3.64	0.40864	5.249000	0.65246	2.158000	0.30961	-0.181000	0.10308	1.000000	0.71638	0.967000	0.29559	0.738000	0.35369	0.0:0.8189:0.181:0.0	11.605	0.50281	222	0.91398	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.005435	0.002924	0.000000	0.008621	0.009146	0.003788	0.07143	1129.44	81	chr17	7764236	.	C	T	1129.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.373;DP=262;ExcessHet=0;FS=0.858;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=-1.257;SOR=0.894	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1205	6	0	1	0
chr17	7776078	7776078	C	T	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon31:c.C4876T:p.R1626W	.	411	1107	4	0	0	4	0.00180343	.	.	.	2379892	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.449	0.0238498904732	0.0002	0.000199681	0.0003	9.638e-05	8.642e-05	0	0	0.0003	0.0011	0.0007	0.0002329	36	154602	rs145092294	0.0002	0.0002	0.0001	0.0002	0.0023	0.0001	0.0001	0.0013	0.0011	2.987e-05	0.0002	0	0	0	0.0023	0.0001	0.0003	0.0004	0.0001	0.0001	0.0001	0.0001	0.0004	7.086e-05	5.744e-05	9.048e-05	7.012e-05	4.813e-05	0	0.0001	0	0	0	0	0.0002	0	0.0004	0.097	0.30943	T	.	.	.	0.98	0.59353	D	0.773	0.56974	P	0.061914	0.22136	N	0.411457	0.996465	0.43220	D	2.535	0.73915	M	0.05	0.61923	T	-4.26	0.76174	D	0.588	0.60918	-0.4512	0.70361	T	0.320	0.68917	T	10	0.41980678	0.56787	T	0.02385	0.46827	T	0.449	0.75004	.	.	0.499727662827	0.49609	0.5693257010220835	0.56860	0.841354233732	0.68090	0.527382612228	0.42666	T	0.554737	0.84987	D	-0.247028	0.14466	T	-0.256356	0.49187	T	0.651634871959686	0.38532	D	0.919108	0.70849	D	0.36775565	0.58419	0.39914995	0.64485	0.36775565	0.58419	0.39914995	0.64485	-9.034	0.67916	D	.	.	0.164	0.36134	B	.;.	.;.	4.852729	0.79340	27.1	0.99912511006192728	0.98167	0.60472	0.31205	D	AEFDGBI	0.244578	0.36566	N	0.457751587473074	0.64645	4.723698	0.406902351678207	0.61993	4.407709	1.10703097845535E-4	0.05123	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.76	2.44	0.28875	0.946000	0.28667	2.674000	0.33968	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.4456:0.4758:0.0:0.0786	7.620	0.27349	242	0.90534	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	961.49	33	chr17	7776078	.	C	T	961.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.009;DP=236;ExcessHet=0;FS=2.3;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.3;ReadPosRankSum=0.111;SOR=0.595	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1207	6	0	1	0
chr17	7823899	7823899	C	T	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon75:c.C11395T:p.R3799C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.546	0.0489632348746	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs775819741	1.231e-05	1.3e-05	9.529e-06	1.513e-05	1.529e-05	7.7e-06	6.35e-06	9.31e-06	7.61e-06	0	0	0	0	0	0	1.529e-05	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.195	0.89043	M	2.31	0.16794	T	-7.55	0.95188	D	0.926	0.94077	-0.6049	0.64614	T	0.175	0.51896	T	10	0.9630075	0.95736	D	0.048963	0.63606	D	0.546	0.81135	0.872	0.96425	0.386882687439	0.38305	0.8103486321906248	0.80989	1.10327722277	0.77797	0.859463810921	0.91032	D	0.216453	0.57862	T	0.253878	0.78962	D	0.126901	0.78689	D	0.999894261360168	0.99577	D	0.981202	0.96450	D	0.9035651	0.91704	0.8448481	0.91160	0.9035651	0.91705	0.8448481	0.91160	-11.09	0.80149	D	.	.	0.640	0.78119	P	.;.;.	.;.;.	5.346179	0.89688	31	0.9992704097797821	0.99163	0.93263	0.57752	D	AEFGBCI	0.821540	0.74208	D	0.806512528064646	0.86513	8.909266	0.710265265995007	0.83157	7.948874	0.999999999327332	0.74766	0.437478	0.07067	0	0.547309	0.14657	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	4.96	4.96	0.65153	5.170000	0.64828	4.739000	0.44596	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.893000	0.43066	0.0:1.0:0.0:0.0	16.961	0.86143	287	0.88635	Dynein heavy chain domain;Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1293.53	98	chr17	7823899	.	C	T	1293.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.843;DP=297;ExcessHet=0;FS=1.66;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=1.03;SOR=0.535	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1424	6	0	1	0
chr17	7824590	7824590	C	A	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon77:c.C11716A:p.L3906M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.00890261032634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.472e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.34800	T	0.059	0.45961	T	0.952	0.54136	P	0.79	0.57710	P	0.000007	0.62929	D	0.000000	0.996452	0.43214	D	2.605	0.76211	M	1.97	0.22067	T	-1.86	0.43524	N	0.584	0.60749	-0.9339	0.43560	T	0.128	0.43666	T	10	0.55658543	0.64551	D	0.008903	0.23463	T	0.262	0.57482	0.755	0.88484	0.492749560936	0.48908	0.6015157006455834	0.60082	0.910590576776	0.71044	0.59761339426	0.52568	T	0.095076	0.39547	T	-0.0763556	0.40304	T	-0.347456	0.39495	T	0.970444977283478	0.68951	D	0.90321	0.73726	D	0.3560978	0.57538	0.4921084	0.70621	0.3560978	0.57538	0.4921084	0.70621	-7.598	0.58297	D	.	.	0.176	0.45714	B	.;.;.	.;.;.	3.503543	0.49029	22.7	0.99213340648980375	0.55655	0.89581	0.50137	D	AEFDBCI	0.220999	0.34568	N	0.382329619375689	0.60465	4.235633	0.287564973329394	0.54814	3.645232	0.739636425060787	0.23190	0.446893	0.09132	0	0.547309	0.14657	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.38	2.27	0.27501	1.614000	0.36522	0.796000	0.21614	0.587000	0.30956	0.996000	0.39380	0.788000	0.26838	0.999000	0.91618	0.0:0.8232:0.0:0.1768	10.223	0.42384	285	0.88719	Dynein heavy chain domain;Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chr17	7824590	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1128	6	1	0	0
chr17	7846949	7846949	T	C	exonic	KDM6B	.	nonsynonymous SNV	KDM6B:NM_001080424:exon9:c.T842C:p.L281P,KDM6B:NM_001348716:exon9:c.T842C:p.L281P	.	4	1516	2	0	0	2	0.000659196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.0287010041823	.	.	.	.	.	.	.	.	.	.	.	.	.	rs982502887	4.042e-06	3.42e-06	6.413e-06	1.63e-06	3.554e-05	1.18e-06	8.6e-07	9.44e-06	4.62e-06	0	0	0	0	0	0	2.071e-06	0	3.554e-05	7.693e-06	7.486e-06	0	1.622e-05	1.576e-05	0	0	.	.	0	0	0	0	0	0	0	1.576e-05	0	0	0.0	0.91255	D	0.012	0.63918	D	0.997	0.70673	D	0.944	0.68059	D	0.003009	0.35573	N	0.000000	0.999978	0.53665	D	0.805	0.20218	L	0.8	0.48769	T	-1.24	0.31375	N	0.43	0.46928	-0.9589	0.39386	T	0.129	0.43787	T	10	0.23647988	0.40730	T	0.028701	0.51333	D	0.129	0.35316	0.233	0.16155	0.221890330934	0.21812	0.564036136516451	0.56330	0.189776172185	0.21301	0.876983880997	0.93551	D	0.054344	0.29698	T	0.0329222	0.56111	T	-0.190486	0.55545	T	0.6842522400591	0.39982	D	0.674733	0.28305	T	0.4925784	0.66656	0.50103366	0.71154	0.4925784	0.66657	0.50103366	0.71154	-2.234	0.04209	T	.	.	0.345	0.56278	A	.;.	.;.	4.288071	0.65375	24.8	0.99489405150688626	0.67347	0.66832	0.33216	D	AEFBI	0.415993	0.48463	N	0.276168115699764	0.54942	3.658887	0.349497857405828	0.58477	4.018408	0.999872106798944	0.44625	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.36	5.36	0.76624	2.767000	0.47321	7.647000	0.63496	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.613	0.61558	298	0.88068	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1711.53	62	chr17	7846949	.	T	C	1711.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.404;DP=601;ExcessHet=0;FS=2.162;MLEAC=1;MLEAF=0.071;MQ=59.78;MQRankSum=1.59;QD=10.9;ReadPosRankSum=-1.36;SOR=0.495	GT:AD:DP:GQ:PL	0/0:111,0:111:99:0,120,1800	6	0	1	0
chr17	7848541	7848552	CACCACCACCAC	-	exonic	KDM6B	.	nonframeshift deletion	KDM6B:NM_001080424:exon11:c.2253_2264del:p.T759_T762del,KDM6B:NM_001348716:exon11:c.2253_2264del:p.T759_T762del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0001	0.0001	0.0001	0.0004	0.0002	0	0.0007	0.000207	32	154602	rs767120689	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0002	0.0005	0.0005	6.076e-05	0.0001	0	0.0001	0.0008	0.0002	0.0001	0.0001	0.0006	0.0002	0.0002	0.0002	0.0002	0.0009	0.0001	0.0001	0.0003	0.0002	5.733e-05	0	7.332e-05	0.0003	0.0009	0.0004	0	0.0002	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1878.39	39	chr17	7848540	.	TCACCACCACCAC	T	1878.39	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.11;DP=343;ExcessHet=0.3476;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.36;ReadPosRankSum=-0.029;SOR=0.721	GT:AD:DP:GQ:PL	0/0:86,0:86:99:0,120,1800	6	0	1	0
chr17	8003192	8003192	G	T	exonic	GUCY2D	.	nonsynonymous SNV	GUCY2D:NM_000180:exon2:c.G145T:p.A49S	Cone-rod dystrophy 6, Autosomal dominant;Leber congenital amaurosis 1, Autosomal recessive	4	1515	3	0	0	3	0.00098912	.	.	.	846355	Cone-rod_dystrophy_6|Leber_congenital_amaurosis_1	MONDO:MONDO:0011143,MedGen:C1866293,OMIM:601777,Orphanet:1872|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000,Orphanet:65	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.097	0.956994938075	.	.	9.533e-05	0	0	0	0	0.0004	0	0	3.23e-05	5	154602	rs771232307	9.449e-05	9.85e-05	8.095e-05	0.0001	9.341e-05	8.089e-05	7.603e-05	7.8e-05	7.271e-05	0	5.934e-05	0.0006	0	5.284e-05	0	9.341e-05	0.0002	1.309e-05	5.914e-05	5.907e-05	5.143e-05	6.721e-05	8.828e-05	3.078e-05	2.21e-05	3.765e-05	2.577e-05	0	0	6.537e-05	0.0003	0	9.427e-05	0	8.828e-05	0	0	0.277	0.15665	T	0.259	0.23097	T	0.021	0.18474	B	0.007	0.12992	B	0.722526	0.09923	N	0.833021	1	0.08975	N	2.28	0.64929	M	-1.63	0.82440	D	-0.47	0.15178	N	0.192	0.21056	-0.7727	0.56709	T	0.406	0.75565	T	10	0.23282662	0.40287	T	0.956995	0.99713	D	0.097	0.27909	.	.	0.806080698872	0.80427	0.35266059002327665	0.35180	1.24011272246	0.81548	0.713609039783	0.69116	T	0.119103	0.44040	T	-0.247022	0.14466	T	-0.387101	0.34891	T	0.0295310455213538	0.01918	T	0.407359	0.10471	T	0.10775722	0.25480	0.09978293	0.23836	0.10775722	0.25479	0.09978293	0.23835	-5.244	0.39386	T	0.16314223790544946	0.20084	0.084	0.09675	B	.	.	1.175135	0.15650	12.01	0.91147627071788129	0.20401	0.28605	0.23600	N	AEFDBI	0.067424	0.13253	N	-0.875142053115183	0.11436	0.5518711	-0.927860304254828	0.11439	0.5827038	0.882106981839013	0.25646	0.59774	0.34471	0	0.59043	0.45803	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	4.65	1.5	0.22029	0.901000	0.28075	5.765000	0.49707	0.668000	0.69082	0.001000	0.13787	0.993000	0.31925	0.077000	0.17074	0.3371:0.0:0.6629:0.0	8.637	0.33119	712	0.56465	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001687	0.000000	0.001506	0.000000	0.000000	0.018182	0.006667	0.000000	0.07143	381.49	24	chr17	8003192	.	G	T	381.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.548;DP=124;ExcessHet=0;FS=1.824;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=2.36;SOR=0.252	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:22,0:22:66:.:.:0,66,691:.	6	0	1	0
chr17	8096649	8096649	A	G	exonic	ALOXE3	.	nonsynonymous SNV	ALOXE3:NM_001369446:exon15:c.T2111C:p.I704T,ALOXE3:NM_001165960:exon16:c.T2510C:p.I837T,ALOXE3:NM_021628:exon16:c.T2114C:p.I705T	Ichthyosis, congenital, autosomal recessive 3, Autosomal recessive	0	1497	24	1	0	26	0.00860927	.	.	.	704452	ALOXE3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.797	0.380157397993	0.0010	0.000599042	0.0012	0.0005	0.0033	0	0	0.0014	0.0066	0.0004	0.0011513	178	154602	rs138511327	0.0010	0.0010	0.0010	0.0010	0.0141	0.0009	0.0009	0.0116	0.0106	0.0002	0.0031	7.913e-05	0	0.0001	0.0141	0.0009	0.0017	0.0006	0.0014	0.0014	0.0013	0.0015	0.0050	0.0012	0.0012	0.0041	0.0038	0.0002	0.0241	0.0050	0.0003	0	0	0.0103	0.0013	0.0052	0.0002	0.0	0.91255	D	0.013	0.63109	D	0.97	0.56973	D	0.688	0.53700	P	0.000048	0.53742	D	0.148999	0.999984	0.58761	D	3.305	0.90531	M	-2.96	0.91956	D	-4.43	0.77717	D	0.467	0.51583	0.957	0.96503	D	0.873	0.95786	D	10	0.014063895	0.00297	T	0.380157	0.92952	D	0.797	0.93346	.	.	0.986267851924	0.98611	0.7874829586891275	0.78700	0.21833863742	0.24371	0.590389490128	0.51549	T	0.487448	0.81351	T	0.113713	0.65735	D	0.386887	0.91672	D	0.0825676291888366	0.10313	T	0.931907	0.74605	D	0.5924791	0.72285	0.7284111	0.83954	0.5978087	0.72575	0.6132911	0.77498	-6.966	0.55882	T	0.27312420416183625	0.36710	0.245	0.57750	B	.;.;.	.;.;.	4.354379	0.66909	25.0	0.99825452954047911	0.90764	0.93254	0.57728	D	AEFDBI	0.379348	0.46240	N	0.680505980597383	0.78354	6.854891	0.623421948247664	0.76644	6.529241	0.999506687356173	0.40062	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.13	5.13	0.69729	5.281000	0.65416	11.188000	0.88560	0.743000	0.86499	0.992000	0.37556	1.000000	0.68203	0.972000	0.54974	1.0:0.0:0.0:0.0	14.342	0.66196	355	0.85216	Lipoxygenase, C-terminal;Lipoxygenase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.000000	0.006793	0.005848	0.100000	0.025862	0.009146	0.003788	0.07143	1205.44	36	chr17	8096649	.	A	G	1205.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.627;DP=300;ExcessHet=0;FS=1.62;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-0.632;SOR=0.879	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,102,1530:.	6	0	1	0
chr17	8149597	8149597	C	T	exonic	PER1	.	nonsynonymous SNV	PER1:NM_002616:exon6:c.G718A:p.V240I	.	410	1102	10	0	0	10	0.00451671	.	.	.	727565	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.019	.	0.0049	0.00259585	0.0043	0.0011	0.0027	0	0.0003	0.0067	0.0045	0.0020	0.0044954	695	154602	rs74795714	0.0057	0.0057	0.0056	0.0057	0.0066	0.0056	0.0055	0.0065	0.0064	0.0008	0.0040	0.0065	0	0.0008	0.0031	0.0066	0.0044	0.0027	0.0042	0.0042	0.0045	0.0039	0.0072	0.0039	0.0038	0.0066	0.0064	0.0007	0	0.0046	0.0032	0	0.0013	0.0102	0.0072	0.0076	0.0019	0.443	0.10412	T	0.241	0.24334	T	0.029	0.19866	B	0.013	0.16460	B	0.253721	0.15456	N	0.670897	1	0.08975	N	0.69	0.16971	N	2.67	0.35960	T	-0.13	0.09460	N	0.114	0.10198	-1.0242	0.22344	T	0.026	0.11131	T	10	0.007104814	0.00162	T	.	.	.	0.019	0.03383	.	.	0.147330786459	0.14319	.	.	0.106249982341	0.12016	0.28054112196	0.07567	T	0.109207	0.42288	T	-0.669413	0.00055	T	-0.730197	0.04318	T	0.00271622591116476	0.00028	T	0.559344	0.28234	T	0.020158	0.00565	0.028824672	0.01156	0.020158	0.00564	0.028824672	0.01156	-6.165	0.47639	T	.	.	0.066	0.05623	B	.;.;.	.;.;.	-0.148903	0.03360	0.597	0.8573706713813477	0.16080	0.09460	0.15211	N	AEFBCI	0.089305	0.18101	N	-1.66099788880046	0.00989	0.0428954	-1.72274035109285	0.01040	0.04668455	0.999934501669828	0.46732	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.55	-8.48	0.00815	-0.237000	0.09007	-3.577000	0.02683	-1.577000	0.00925	0.000000	0.06391	0.000000	0.08366	0.147000	0.20199	0.0:0.676:0.1582:0.1658	11.762	0.51177	306	0.87689	PAS domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.004076	0.002924	0.000000	0.000000	0.003049	0.003788	0.07143	933.63	71	chr17	8149597	.	C	T	933.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.48;DP=258;ExcessHet=0;FS=1.953;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-1.754;SOR=0.954	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1147	6	0	1	0
chr17	8174576	8174576	G	C	exonic	TMEM107	.	nonsynonymous SNV	TMEM107:NM_001351278:exon4:c.C315G:p.F105L,TMEM107:NM_001351279:exon4:c.C297G:p.F99L,TMEM107:NM_032354:exon4:c.C315G:p.F105L,TMEM107:NM_183065:exon4:c.C297G:p.F99L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.00708425211287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.512e-05	0.0007	1.231e-05	1.795e-05	0.0002	9.9e-06	8.45e-06	1.181e-05	9.6e-06	0	0	0	0	0	0.0002	1.808e-05	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.13349	T	0.262	0.23984	T	0.996	0.68779	D	0.98	0.74843	D	0.379952	0.04413	N	1.368220	0.912812	0.81001	D	2.015	0.55033	M	.	.	.	-2.23	0.50012	N	0.572	0.60325	-0.7826	0.56155	T	0.364	0.72460	T	9	0.49340042	0.61124	T	0.007084	0.18759	T	0.297	0.61730	0.424	0.46857	0.0297737177859	0.01360	0.7206597575917854	0.72008	0.875831749287	0.69562	0.769055366516	0.77283	T	0.04577	0.27224	T	0.309962	0.83743	D	0.207462	0.83533	D	0.850467026233673	0.50206	D	0.850115	0.60710	D	0.093706325	0.22014	0.1302798	0.31307	0.093706325	0.22014	0.1302798	0.31307	-3.888	0.22122	T	0.16524561158880893	0.20471	0.788	0.77750	P	.;.;.	.;.;.	3.356563	0.46317	22.3	0.99802010137586417	0.88639	0.78447	0.38704	D	AEFBHC	0.275885	0.39074	N	0.32608846708208	0.57491	3.916634	0.266412907425972	0.53589	3.527069	0.998673458369918	0.37434	0.542737	0.22433	0	0.685571	0.66316	0	0.694767	0.63188	0	0.605231	0.38476	0	.	.	5.92	2.0	0.25495	1.407000	0.34266	4.374000	0.43159	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.1131:0.0:0.8869:0.0	9.233	0.36612	306	0.87689	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	233.65	39	chr17	8174576	.	G	C	233.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.93;DP=369;ExcessHet=0.3476;FS=112.656;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=1.83;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	5	0	2	0
chr17	8174580	8174580	G	C	exonic	TMEM107	.	nonsynonymous SNV	TMEM107:NM_001351278:exon4:c.C311G:p.S104C,TMEM107:NM_001351279:exon4:c.C293G:p.S98C,TMEM107:NM_032354:exon4:c.C311G:p.S104C,TMEM107:NM_183065:exon4:c.C293G:p.S98C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.00514127407592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0006	1.368e-05	1.104e-05	2.322e-05	7.73e-06	6.38e-06	6.56e-06	5.05e-06	0	0	0	0	0	0	1.175e-05	4.984e-05	2.322e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.45039	D	0.087	0.40747	T	0.99	0.70673	D	0.799	0.59825	P	0.309680	0.04007	N	1.429840	1	0.81001	D	2.085	0.57729	M	.	.	.	-2.94	0.63090	D	0.696	0.71321	-0.6593	0.62307	T	0.422	0.76690	T	9	0.6877756	0.71667	D	0.005141	0.13063	T	0.220	0.51569	0.418	0.45873	0.0297737177859	0.01360	0.6458913168477342	0.64524	1.47718410031	0.86649	0.608164668083	0.54056	T	0.122346	0.44595	T	0.133133	0.67665	D	-0.0465405	0.67259	D	0.906777620315552	0.56088	D	0.90311	0.66064	D	0.19705051	0.41556	0.15418917	0.36198	0.19705051	0.41556	0.15418917	0.36197	-3.993	0.28872	T	0.5338197544688219	0.60434	0.136	0.34862	B	.;.;.	.;.;.	4.170555	0.62707	24.5	0.98937053651445062	0.48864	0.83468	0.42583	D	AEFBHC	0.336545	0.43463	N	0.614204160208366	0.74073	6.071017	0.629546438358449	0.77097	6.613919	0.999999965267458	0.74766	0.608746	0.35421	0	0.587265	0.34161	0	0.694767	0.63188	0	0.605231	0.38476	0	.	.	5.92	5.92	0.95557	2.188000	0.42243	9.849000	0.81976	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.961000	0.51904	0.0:0.0:1.0:0.0	15.819	0.78400	306	0.87689	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	238.65	39	chr17	8174580	.	G	C	238.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.439;DP=372;ExcessHet=0.3476;FS=111.142;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=2.2;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	5	0	2	0
chr17	8174584	8174584	G	C	exonic	TMEM107	.	nonsynonymous SNV	TMEM107:NM_001351278:exon4:c.C307G:p.L103V,TMEM107:NM_001351279:exon4:c.C289G:p.L97V,TMEM107:NM_032354:exon4:c.C307G:p.L103V,TMEM107:NM_183065:exon4:c.C289G:p.L97V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0140421232265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	7.524e-06	2.722e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.56456	D	0.022	0.58089	D	0.1	0.73220	B	0.073	0.78936	B	0.047715	0.23319	N	0.382516	1	0.81001	D	2.42	0.70002	M	.	.	.	-1.69	0.43717	N	0.541	0.63459	-0.6637	0.62113	T	0.281	0.65280	T	9	0.3647289	0.53011	T	0.014042	0.33885	T	0.203	0.48915	0.692	0.82938	0.0138822411134	0.00435	0.8337530561023957	0.83334	1.56021622753	0.88027	0.60396283865	0.53463	T	0.050056	0.28486	T	0.174122	0.71501	D	0.012338	0.71133	D	0.854229768616039	0.50534	D	0.905209	0.66592	D	0.1305304	0.30453	0.13564537	0.32471	0.1305304	0.30453	0.13564537	0.32471	-4.093	0.29353	T	0.5639296545248847	0.63149	0.275	0.55788	B	.;.;.	.;.;.	3.724027	0.53232	23.3	0.99695596692605004	0.80248	0.70041	0.34428	D	AEFBHC	0.133706	0.25346	N	0.00100626654297573	0.41900	2.514694	0.0461761497681474	0.41888	2.524	0.998454773613857	0.36996	0.608746	0.35421	0	0.587265	0.34161	0	0.694767	0.63188	0	0.605231	0.38476	0	.	.	5.92	2.34	0.28071	0.677000	0.24942	4.292000	0.42914	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.984000	0.60418	0.18:0.0:0.6634:0.1565	5.934	0.18396	306	0.87689	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	255.27	39	chr17	8174584	.	G	C	255.27	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.921;DP=417;ExcessHet=0.3476;FS=178.848;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=1.76;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:69,0:69:97:.:.:0,97,1504:.	4	0	2	1
chr17	8174586	8174586	G	A	exonic	TMEM107	.	nonsynonymous SNV	TMEM107:NM_001351278:exon4:c.C305T:p.A102V,TMEM107:NM_001351279:exon4:c.C287T:p.A96V,TMEM107:NM_032354:exon4:c.C305T:p.A102V,TMEM107:NM_183065:exon4:c.C287T:p.A96V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.00321349846174	.	.	8.273e-06	0	8.667e-05	0	0	0	0	0	6.5e-06	1	154602	rs762032078	2.052e-06	2.052e-06	1.361e-06	2.75e-06	4.472e-05	5.5e-07	1.5e-07	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.29959	T	0.09	0.41573	T	0.361	0.43659	B	0.214	0.41496	B	0.647929	0.05906	N	1.188530	0.996233	0.81001	D	1.795	0.47270	L	.	.	.	-1.55	0.42384	N	0.434	0.47301	-0.8970	0.48293	T	0.212	0.57201	T	9	0.2338396	0.40411	T	0.003213	0.07057	T	0.120	0.33359	0.47	0.54376	0.0138822411134	0.00435	0.5447515103588613	0.54401	0.786814896242	0.65570	0.58817255497	0.51236	T	0.038104	0.24721	T	-0.0608368	0.42776	T	-0.242299	0.50574	T	0.385473254764863	0.28392	T	0.918808	0.70803	D	0.13655403	0.31651	0.14731959	0.34868	0.13655403	0.31651	0.14731959	0.34867	-3.542	0.17025	T	0.2708702420581789	0.36443	0.192	0.44267	B	.;.;.	.;.;.	3.499455	0.48948	22.7	0.99771976248446648	0.86003	0.83362	0.42485	D	AEFBHC	0.478187	0.52086	N	0.235744521745357	0.52937	3.465097	0.36882925376005	0.59649	4.144679	0.999999999997209	0.74766	0.608746	0.35421	0	0.587265	0.34161	0	0.694767	0.63188	0	0.605231	0.38476	0	.	.	5.92	5.92	0.95557	3.737000	0.54781	8.617000	0.77794	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	15.819	0.78400	306	0.87689	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	118.45	39	chr17	8174586	.	G	A	118.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.909;DP=336;ExcessHet=0;FS=71.877;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=3.16;SOR=6.272	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485:.	6	0	1	0
chr17	8256909	8256909	G	A	exonic	PFAS	.	nonsynonymous SNV	PFAS:NM_012393:exon9:c.G1021A:p.A341T	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.446	0.036088685616	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1365486830	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.009	0.66756	D	0.996	0.68779	D	0.926	0.66095	D	0.000021	0.55875	D	0.115586	0.999999	0.81001	D	3.31	0.90591	M	0.51	0.55439	T	-2.2	0.49519	N	0.634	0.64733	-0.0810	0.80531	T	0.408	0.75720	T	10	0.9295864	0.92300	D	0.036089	0.56766	D	0.446	0.74797	0.843	0.94784	0.853942674937	0.85253	0.8216244516064228	0.82119	0.766464379829	0.64535	0.561025619507	0.47412	T	0.450761	0.79175	T	0.03877	0.56884	T	-0.0852319	0.64518	T	0.876257934965105	0.52613	D	0.999637	0.99861	D	0.16382924	0.36551	0.21656017	0.46288	0.16382924	0.36551	0.21656017	0.46287	-11.797	0.83848	D	.	.	0.497	0.64449	A	.	.	5.095850	0.85121	28.5	0.99941416406109485	0.99797	0.98576	0.84281	D	AEFDBI	0.857341	0.77469	D	0.948937985293399	0.93941	12.38708	0.907006547142515	0.95872	14.055	0.999999731712782	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.75	5.75	0.90390	8.778000	0.91427	11.849000	0.98023	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	17.432	0.87434	484	0.77165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	867.44	36	chr17	8256909	.	G	A	867.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.47;DP=255;ExcessHet=0;FS=0.891;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-1.153;SOR=0.844	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1262	6	0	1	0
chr17	8262977	8262977	C	G	exonic	PFAS	.	nonsynonymous SNV	PFAS:NM_012393:exon12:c.C1394G:p.A465G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.0134726014619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.006	0.70582	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.995	0.96723	H	2.35	0.16217	T	-3.41	0.67129	D	0.686	0.69213	-0.4486	0.70447	T	0.217	0.57915	T	10	0.9158735	0.90948	D	0.013473	0.32898	T	0.486	0.77464	0.767	0.89452	0.842154871969	0.84064	0.6627497621535783	0.66211	0.827336596938	0.67465	0.545911848545	0.45280	T	0.363471	0.72921	T	0.0369154	0.56639	T	-0.18475	0.56080	T	0.983383774757385	0.75071	D	0.992892	0.97700	D	0.8916072	0.90646	0.79855883	0.88179	0.8916072	0.90647	0.79855883	0.88179	-10.869	0.78934	D	.	.	0.539	0.66308	A	.	.	5.199760	0.87232	29.2	0.977500047512457	0.35739	0.98707	0.85832	D	AEFDBI	0.778269	0.71082	D	1.06542708750744	0.97439	16.13047	1.00215167624025	0.98669	18.97473	0.999999887663626	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	6.870000	0.75324	7.730000	0.67710	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	18.373	0.90364	501	0.75956	PurM-like, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr17	8262977	.	C	G	33.22	.	AC=2;AF=0.143;AN=14;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1242	6	1	0	0
chr17	8263788	8263788	C	T	exonic	PFAS	.	nonsynonymous SNV	PFAS:NM_012393:exon15:c.C1643T:p.T548I	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.0443680895984	0.0004	0.000199681	0.0002	0	0.0008	0	0	0.0002	0.0011	0	0.0001746	27	154602	rs144399783	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	0	0.0005	3.829e-05	0	1.872e-05	0	0.0002	0.0003	4.638e-05	0.0002	0.0002	0.0002	0.0001	0.0005	0.0001	9.696e-05	0.0003	0.0002	4.813e-05	0	0.0005	0	0	0	0	0.0002	0	0	0.001	0.78490	D	0.005	0.72224	D	1.0	0.90584	D	0.995	0.83170	D	0.000008	0.62929	D	0.108661	0.999999	0.58761	D	3.34	0.90961	M	2.34	0.16351	T	-5.53	0.86073	D	0.737	0.73735	-0.6542	0.62530	T	0.164	0.50061	T	10	0.6560924	0.69882	D	0.044368	0.61452	D	0.413	0.72404	.	.	0.929386966284	0.92866	0.691705358912681	0.69110	0.879546054641	0.69721	0.695743739605	0.66530	T	0.350174	0.71793	T	-0.150835	0.28180	T	-0.0958587	0.63716	T	0.634900629520416	0.37822	D	0.972478	0.90093	D	0.9501447	0.96280	0.8690394	0.92800	0.9501447	0.96280	0.8690394	0.92800	-12.33	0.86421	D	.	.	0.635	0.70325	P	.	.	4.498502	0.70332	25.5	0.99865151144465436	0.94366	0.97248	0.73568	D	AEFDBI	0.673210	0.63935	D	0.805926237649121	0.86475	8.897533	0.722070287838275	0.84054	8.186569	0.967592737448313	0.28989	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.84	4.85	0.62375	7.001000	0.76051	7.721000	0.67307	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.884000	0.42379	0.1539:0.8461:0.0:0.0	13.869	0.63106	499	0.76092	PurM-like, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	1678.44	35	chr17	8263788	.	C	T	1678.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.31;DP=346;ExcessHet=0;FS=1.967;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-0.888;SOR=0.895	GT:AD:DP:GQ:PL	0/1:93,71:164:99:1689,0,2208	6	0	1	0
chr17	8263932	8263932	G	A	exonic	PFAS	.	nonsynonymous SNV	PFAS:NM_012393:exon15:c.G1787A:p.R596Q	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00587271977988	0.0008	0.000798722	0.0006	0	0.0016	0.0001	0	0.0007	0.0034	0	0.0006015	93	154602	rs142452570	0.0006	0.0006	0.0006	0.0006	0.0016	0.0005	0.0005	0.0013	0.0012	0.0002	0.0016	3.827e-05	2.519e-05	0.0001	0	0.0006	0.0007	4.638e-05	0.0005	0.0005	0.0006	0.0004	0.0015	0.0004	0.0004	0.0010	0.0009	0.0002	0	0.0015	0	0.0002	0	0	0.0007	0.0005	0	0.086	0.32610	T	0.188	0.28669	T	0.018	0.17786	B	0.006	0.12133	B	0.001936	0.37643	N	0.290063	0.99407	0.23592	N	-0.045	0.04980	N	1.6	0.28604	T	-0.22	0.10480	N	0.292	0.33030	-1.0150	0.25336	T	0.031	0.13461	T	10	0.019551486	0.00438	T	0.005873	0.15281	T	0.017	0.02790	.	.	0.628234499437	0.62520	0.3298380611727529	0.32896	0.268696464368	0.29385	0.246724843979	0.03431	T	0.038064	0.24707	T	-0.521934	0.00429	T	-0.563031	0.16093	T	0.0233136362323116	0.01061	T	0.812919	0.46506	T	0.028708223	0.02250	0.041239116	0.04641	0.028708223	0.02249	0.041239116	0.04640	-3.717	0.19569	T	.	.	0.070	0.03407	B	.	.	2.310669	0.29574	18.17	0.9949744540126485	0.67801	0.85455	0.44589	D	AEFBI	0.132850	0.25231	N	-0.698266308991744	0.16070	0.8155764	-0.514211870889933	0.21767	1.179093	1.00224251973785E-4	0.04910	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.84	0.244	0.14768	2.129000	0.41677	-0.048000	0.12582	-0.105000	0.15698	1.000000	0.71638	0.000000	0.08366	0.937000	0.47636	0.4804:0.0:0.5196:0.0	8.491	0.32258	500	0.76024	PurM-like, C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	805.53	31	chr17	8263932	.	G	A	805.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.334;DP=212;ExcessHet=0;FS=9.552;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.14;ReadPosRankSum=-0.241;SOR=0.113	GT:AD:DP:GQ:PL	0/1:18,29:47:99:816,0,480	6	0	1	0
chr17	8758366	8758366	G	A	exonic	SPDYE4	.	nonsynonymous SNV	SPDYE4:NM_001128076:exon1:c.C17T:p.A6V	.	425	1080	16	1	0	18	0.00826446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0070	0.00319489	0.0052	0.0070	0.0101	0	0.0055	0.0070	0	0.0032	0.0020634	319	154602	rs34694079	0.0081	0.0078	0.0082	0.0080	0.0097	0.0080	0.0080	0.0092	0.0092	0.0035	0.0029	0.0027	5.598e-05	0.0057	0.0097	0.0094	0.0075	0.0027	0.0062	0.0062	0.0064	0.0059	0.0094	0.0058	0.0057	0.0088	0.0086	0.0040	0.0110	0.0031	0.0026	0	0.0039	0.0102	0.0094	0.0071	0.0010	0.172	0.22660	T	0.694	0.05844	T	0.0	0.02946	B	0.0	0.01387	B	0.018084	0.01480	N	3.257980	1	0.08975	N	0	0.06538	N	.	.	.	-0.54	0.16598	N	0.075	0.04913	-1.0613	0.11434	T	0.033	0.14117	T	9	0.0039616227	0.00076	T	.	.	.	0.014	0.01968	.	.	0.0297737177859	0.01360	0.06361789642876589	0.06300	0.200286886509	0.22433	0.387546867132	0.23323	T	0.001776	0.01195	T	-0.697053	0.00038	T	-0.763657	0.02983	T	0.000697649832233645	0.00006	T	0.458554	0.13215	T	0.02554231	0.01503	0.04355462	0.05446	0.02554231	0.01503	0.04355462	0.05445	-4.193	0.26650	T	.	.	0.084	0.09772	B	.	.	-0.119769	0.03524	0.670	0.67067587201391132	0.08244	0.00538	0.02482	N	AEFDBI	0.028939	0.02640	N	-1.39315711839182	0.02701	0.1196695	-1.42553532080348	0.02999	0.1390573	8.21368020201314E-5	0.04703	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.38	0.228	0.14635	0.331000	0.19477	-2.552000	0.03617	-0.202000	0.08738	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.3527:0.0:0.6473:0.0	4.59	0.11696	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008914	0.015306	0.008824	0.010563	0.000000	0.000000	0.014019	0.000000	0.07143	636.49	37	chr17	8758366	.	G	A	636.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.474;DP=249;ExcessHet=0;FS=0.99;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=-0.22;SOR=0.524	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,998	6	0	1	0
chr17	8797500	8797500	T	C	exonic	MFSD6L	.	nonsynonymous SNV	MFSD6L:NM_152599:exon1:c.A1621G:p.I541V	.	.	.	.	.	.	.	.	.	.	.	3278658	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.222	0.0523553198258	.	.	1.654e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs766992966	1.984e-05	1.984e-05	1.77e-05	2.2e-05	0.0006	1.392e-05	1.203e-05	0.0004	0.0003	0.0006	0	0	0	0	0.0003	0	8.28e-05	2.319e-05	7.883e-05	7.879e-05	0.0001	4.034e-05	0.0003	4.496e-05	3.511e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	0	0	0	0.596	0.05703	T	0.687	0.05976	T	0.002	0.09854	B	0.005	0.11217	B	0.084504	0.20693	N	0.452954	0.994262	0.23554	N	1.035	0.25616	L	-3.47	0.94546	D	-0.5	0.15782	N	0.039	0.01274	-0.4729	0.69623	T	0.579	0.84858	D	10	0.04763198	0.04106	T	0.052355	0.65037	D	0.222	0.51872	.	.	0.0611884634855	0.05136	0.07438195666183844	0.07374	0.0941342584963	0.10624	0.293147683144	0.09382	T	0.003664	0.03070	T	-0.181638	0.23491	T	-0.262018	0.48622	T	0.00826416427131232	0.00099	T	0.394361	0.09853	T	0.014063284	0.00079	0.022973582	0.00314	0.014063284	0.00079	0.022973582	0.00314	-2.433	0.05339	T	.	.	0.083	0.09288	B	.	.	-1.219002	0.00512	0.012	0.36615013039730254	0.02365	0.11678	0.16791	N	AEFDGBCI	0.076864	0.15473	N	-1.19190806180188	0.05122	0.2327378	-1.15786815557855	0.06628	0.3196575	0.00329723857539322	0.10040	0.713056	0.82018	0	0.552637	0.17590	0	0.608524	0.38960	0	0.542086	0.14980	0	.	.	5.03	-1.07	0.09459	-0.395000	0.07347	-3.507000	0.02734	-0.113000	0.14837	0.001000	0.13787	0.000000	0.08366	0.597000	0.31313	0.0:0.4674:0.146:0.3866	7.247	0.25302	803	0.44167	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1485.45	35	chr17	8797500	.	T	C	1485.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.851;DP=346;ExcessHet=0;FS=0.58;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.84;ReadPosRankSum=-0.554;SOR=0.768	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1350	6	0	1	0
chr17	9023070	9023070	G	C	exonic	NTN1	.	nonsynonymous SNV	NTN1:NM_004822:exon2:c.G697C:p.D233H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.876	0.293290331008	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs749289575	4.913e-06	6.156e-06	6.955e-06	2.833e-06	0.0003	2.04e-06	1.31e-06	6.133e-05	2.536e-05	0	0	0	0	0	0.0003	3.653e-06	1.694e-05	0	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.001	0.78490	D	0.07	0.43721	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.515	0.92918	H	-1.51	0.81399	D	-5.8	0.88148	D	0.747	0.74644	0.605	0.91965	D	0.716	0.90239	D	10	0.93052375	0.92392	D	0.29329	0.90637	D	0.876	0.96317	0.8	0.91946	0.929026907579	0.92829	0.8236809628090355	0.82325	.	.	0.885409235954	0.94676	D	0.879957	0.97476	D	0.38996	0.89324	D	0.392212	0.91856	D	0.964601936940029	0.67008	D	0.986551	0.95418	D	0.9349458	0.94735	0.8757318	0.93264	0.9349458	0.94735	0.8757318	0.93265	-14.825	0.95429	D	0.9142964753913077	0.96123	0.993	0.94651	P	.	.	5.980978	0.94250	34	0.99433681321218015	0.64374	0.98474	0.83158	D	AEFDBHCIJ	0.912761	0.87381	D	0.863805609002155	0.89879	10.15697	0.79546891473174	0.89474	9.990767	0.999999999999841	0.74766	0.59774	0.34471	0	0.541168	0.11318	0	0.666236	0.60216	0	0.63947	0.58350	0	.	.	4.71	4.71	0.59010	8.147000	0.89557	9.941000	0.82656	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.632	0.88014	938	0.14419	Laminin, N-terminal|Laminin, N-terminal|Laminin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	610.63	60	chr17	9023070	.	G	C	610.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.6;DP=239;ExcessHet=0;FS=5.343;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=0.023;SOR=0.871	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1347	6	0	1	0
chr17	9857511	9857511	G	A	exonic	GLP2R	.	nonsynonymous SNV	GLP2R:NM_004246:exon6:c.G700A:p.V234I	.	427	1072	21	2	0	25	0.011526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0047	0.00419329	0.0080	0.0004	0.0010	0	0.0187	0.0071	0.0088	0.0210	0.0072121	1115	154602	rs61730822	0.0053	0.0053	0.0047	0.0060	0.0205	0.0052	0.0052	0.0197	0.0194	0.0005	0.0011	0.0064	5.038e-05	0.0172	0.0057	0.0041	0.0039	0.0205	0.0051	0.0051	0.0045	0.0057	0.0193	0.0048	0.0047	0.0161	0.0149	0.0006	0	0.0012	0.0037	0.0002	0.0175	0	0.0064	0.0033	0.0193	0.371	0.11514	T	0.56	0.22627	T	0.028	0.19712	B	0.021	0.19346	B	0.190017	0.16872	N	0.434889	1	0.08975	N	0.61	0.15665	N	1.15	0.45248	T	0.27	0.04306	N	0.063	0.05670	-1.0347	0.18951	T	0.039	0.16763	T	10	0.0036627948	0.00067	T	.	.	.	0.060	0.17295	.	.	0.476364732183	0.47263	0.0847454450444423	0.08408	0.238286903455	0.26374	0.291410237551	0.09127	T	0.040885	0.25675	T	-0.644047	0.00079	T	-0.681649	0.06884	T	0.000678992996314219	0.00006	T	0.686031	0.51512	T	0.022864567	0.00981	0.034941487	0.02653	0.022864567	0.00981	0.034941487	0.02653	-5.195	0.38891	T	.	.	0.070	0.06710	B	.;.;.	.;.;.	0.655718	0.10239	6.978	0.86854329371311922	0.16818	0.04631	0.10296	N	AEFGBI	0.068523	0.13520	N	-0.847650686937809	0.12108	0.588198	-0.814886138503196	0.14135	0.7370068	5.87251080179806E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.28	0.641	0.16930	-0.097000	0.11010	0.155000	0.15338	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.962000	0.52141	0.2648:0.0:0.7352:0.0	11.531	0.49862	940	0.13648	GPCR, family 2-like;GPCR, family 2-like;GPCR, family 2-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011078	0.005051	0.004076	0.014620	0.000000	0.008621	0.015244	0.018939	0.07143	1554.49	124	chr17	9857511	.	G	A	1554.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.36;DP=313;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=0.533;SOR=0.752	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1246	6	0	1	0
chr17	10303286	10303286	C	G	exonic	MYH13	.	nonsynonymous SNV	MYH13:NM_003802:exon39:c.G5577C:p.E1859D	.	420	1086	3	0	13	16	0.00137931	.	.	.	2218172	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.203	0.0225051242979	7.8e-05	.	0.0001	0	0	0	0	1.499e-05	0	0.0007	9.06e-05	14	154602	rs372224078	9.03e-05	9.029e-05	6.67e-05	0.0001	0.0024	7.756e-05	7.299e-05	0.0015	0.0012	0	0.0004	7.652e-05	0	0	0.0024	1.888e-05	0.0002	0.0007	5.913e-05	5.906e-05	2.571e-05	9.407e-05	0.0006	3.077e-05	2.21e-05	0.0002	9.007e-05	2.407e-05	0	0.0003	0	0	0	0	1.471e-05	0	0.0006	0.05	0.39575	D	0.265	0.22694	T	0.092	0.25296	B	0.246	0.38861	B	.	.	.	.	0.992	0.23951	N	1.84	0.48285	L	-1.47	0.81067	T	-1.68	0.40082	N	0.259	0.33578	-0.6439	0.62979	T	0.374	0.73265	T	9	0.06759086	0.09438	T	0.022505	0.45406	T	0.203	0.48915	0.742	0.87401	0.553672381021	0.55024	0.25265911101417526	0.25179	0.473008986637	0.46537	0.542987108231	0.44868	T	0.219543	0.58258	T	-0.367911	0.03700	T	-0.379242	0.35812	T	0.104151883513963	0.12807	T	0.821218	0.48050	T	0.10100979	0.23857	0.12381383	0.29852	0.10100979	0.23857	0.12381383	0.29851	-5.661	0.43344	T	.	.	0.149	0.32992	B	.;.;.	.;.;.	2.183880	0.27838	17.60	0.98945205653397073	0.49016	0.32939	0.24707	N	AEFBI	0.498294	0.53246	N	-0.6567653276493	0.17263	0.8868456	-0.627821792978627	0.18780	1.004707	5.86033939185107E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.81	1.79	0.23992	-0.578000	0.05933	-0.418000	0.09303	-0.177000	0.10537	0.054000	0.21560	0.059000	0.21998	0.965000	0.52897	0.0:0.5685:0.182:0.2495	4.696	0.12186	90	0.96275	Myosin tail;Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.07143	79.44	35	chr17	10303286	.	C	G	79.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.398;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.83;ReadPosRankSum=-0.725;SOR=1.179	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1343	6	0	1	0
chr17	10362359	10362359	C	T	splicing	MYH13	NM_003802:exon4:c.348+1G>A	.	.	.	0	1518	4	0	0	4	0.00131579	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00139776	0.0010	0	0	0.0021	0.0024	0.0012	0.0022	0.0005	0.0008926	138	154602	rs188631380	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0003	0.0010	0.0009	5.974e-05	4.472e-05	3.826e-05	0.0013	0.0012	0.0016	0.0002	0.0008	0.0004	0.0003	0.0003	0.0002	0.0003	0.0015	0.0002	0.0002	0.0008	0.0006	2.408e-05	0	0	0	0.0015	0.0008	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105236	0.64854	D	0.371603	0.91131	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	6.519517	0.95341	34	0.99489025940567333	0.67347	0.97496	0.75125	D	AEFGBI	.	.	.	1.05686017378272	0.97248	15.81804	0.871903258181875	0.94227	12.59986	0.999999555230876	0.74766	0.061011	0.01085	0	0.059962	0.00310	0	0.063197	0.01477	0	0.057018	0.00518	0	0.978151	0.82146	4.4	4.4	0.52402	7.788000	0.84364	7.544000	0.60141	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.868000	0.41282	0.0:1.0:0.0:0.0	17.513	0.87661	64	0.97283	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1691.44	34	chr17	10362359	.	C	T	1691.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.306;DP=351;ExcessHet=0;FS=1.241;MLEAC=1;MLEAF=0.071;MQ=57.35;MQRankSum=-1.393;QD=10.57;ReadPosRankSum=1.62;SOR=0.82	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr17	10448871	10448871	A	C	exonic	MYH4	.	nonsynonymous SNV	MYH4:NM_017533:exon31:c.T4358G:p.F1453C	.	36	1483	2	1	0	4	0.0013468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.931	0.045544129263	.	.	2.472e-05	0	0	0	0	4.498e-05	0	0	1.94e-05	3	154602	rs773113530	1.916e-05	1.915e-05	1.906e-05	1.925e-05	0.0002	1.328e-05	1.144e-05	1.377e-05	1.15e-05	0	0	0	0	0	0.0002	2.068e-05	6.625e-05	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.001629	0.38439	U	0.000000	0.999997	0.58761	D	3.965	0.96539	H	-1.59	0.82076	D	-4.85	0.81107	D	0.973	0.98368	0.850	0.95023	D	0.794	0.93032	D	10	0.93296146	0.92631	D	0.045544	0.62032	D	0.931	0.98378	0.774	0.90002	0.905763831556	0.90482	0.3974682586606793	0.39661	0.840265320963	0.68025	0.753630697727	0.74982	T	0.622736	0.88199	D	0.303859	0.83273	D	0.390379	0.91793	D	0.926846444606781	0.58935	D	0.964104	0.86689	D	0.17200668	0.37867	0.20557661	0.44734	0.17200668	0.37867	0.20557661	0.44733	-13.892	0.92701	D	.	.	0.505	0.64803	A	.	.	5.043169	0.83952	28.2	0.99317182435414075	0.59241	0.99799	0.99545	D	AEFBI	0.937229	0.93471	D	0.964225524090846	0.94534	12.83263	0.872994943407033	0.94284	12.64317	0.999998801457584	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.11	5.11	0.69188	9.265000	0.94799	9.345000	0.80249	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.192	0.72735	87	0.96348	Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2331.44	35	chr17	10448871	.	A	C	2331.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.502;DP=358;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=0.713;SOR=0.724	GT:AD:DP:GQ:PL	0/1:80,93:173:99:2342,0,2024	6	0	1	0
chr17	10451358	10451358	G	A	exonic	MYH4	.	nonsynonymous SNV	MYH4:NM_017533:exon28:c.C3833T:p.S1278L	.	437	1073	12	0	0	12	0.0055607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.0250080218731	0.0003	0.000998403	0.0009	0.0002	0.0002	0	0	0.0005	0.0044	0.0043	0.0007762	120	154602	rs145453135	0.0007	0.0007	0.0005	0.0008	0.0042	0.0006	0.0006	0.0039	0.0037	5.974e-05	8.949e-05	7.663e-05	2.52e-05	0	0.0031	0.0005	0.0008	0.0042	0.0005	0.0005	0.0004	0.0006	0.0056	0.0004	0.0004	0.0040	0.0034	9.623e-05	0	0	0	0	9.416e-05	0.0034	0.0006	0.0005	0.0056	0.002	0.72154	D	0.132	0.34477	T	0.019	0.17989	B	0.032	0.22131	B	0.651406	0.10509	U	0.725538	0.999973	0.18612	N	2.295	0.65404	M	-1.17	0.78199	T	-2.56	0.55339	D	0.381	0.42247	-0.5019	0.68582	T	0.448	0.78348	T	10	0.008505881	0.00193	T	0.025008	0.47992	D	0.346	0.66769	.	.	0.796884379247	0.79499	0.15152543263563856	0.15074	0.16406042918	0.18510	0.474094808102	0.35243	T	0.469485	0.80300	T	-0.373122	0.03439	T	-0.308885	0.43778	T	0.0573092977570532	0.06739	T	0.89801	0.64352	D	0.19731736	0.41592	0.31166255	0.57172	0.19731736	0.41592	0.31166255	0.57171	-7.558	0.58017	D	.	.	0.088	0.11797	B	.	.	4.014388	0.59245	24.1	0.99807052912013572	0.89085	0.22646	0.21816	N	AEFI	0.209701	0.33565	N	-0.161371435633514	0.34751	1.987468	-0.0952495380354962	0.35586	2.060597	1.66813247063777E-4	0.05721	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.62	5.62	0.85714	-0.109000	0.10810	8.601000	0.77727	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.7495:0.2505	13.971	0.63755	90	0.96275	Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.1429	3322.63	34	chr17	10451358	.	G	A	3322.63	.	AC=2;AF=0.143;AN=14;DP=288;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=28.89;SOR=0.899	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1260	6	1	0	0
chr17	10466546	10466546	C	T	exonic	MYH4	.	nonsynonymous SNV	MYH4:NM_017533:exon3:c.G200A:p.G67E	.	.	.	.	.	.	.	.	.	.	.	3320596	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.316	0.0180223719232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.016	0.60972	D	0.003	0.11197	B	0.027	0.21085	B	0.002520	0.36425	U	0.000000	0.759993	0.29549	N	2.52	0.73523	M	-2.16	0.86549	D	-3.5	0.68178	D	0.363	0.40465	0.069	0.83605	D	0.586	0.85162	D	10	0.44626597	0.58416	T	0.018022	0.39939	T	0.316	0.63799	0.645	0.78224	0.857855530976	0.85648	0.3904544229298961	0.38960	0.672494461249	0.59528	0.585017681122	0.50792	T	0.567832	0.85642	D	-0.0328589	0.47001	T	-0.284976	0.46292	T	0.979455590248108	0.72840	D	0.933007	0.74900	D	0.14710623	0.33645	0.18045847	0.40846	0.14710623	0.33645	0.18045847	0.40845	-9.004	0.67723	D	.	.	0.230	0.46261	B	.	.	3.112511	0.41986	21.5	0.99577975577774114	0.72802	0.54791	0.29703	D	AEFBI	0.115636	0.22729	N	-0.134304084830653	0.35905	2.068366	-0.0741452398808687	0.36463	2.122314	6.72251341190772E-4	0.07599	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.53	4.53	0.55009	2.581000	0.45742	5.854000	0.50366	0.596000	0.33519	0.912000	0.31733	1.000000	0.68203	0.848000	0.40082	0.163:0.837:0.0:0.0	12.860	0.57296	139	0.94486	Myosin, N-terminal, SH3-like|Myosin, N-terminal, SH3-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	3827.44	37	chr17	10466546	.	C	T	3827.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.859;DP=494;ExcessHet=0;FS=1.4;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.152;SOR=0.789	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1329	6	0	1	0
chr17	10516450	10516450	C	T	exonic	MYH1	.	nonsynonymous SNV	MYH1:NM_005963:exon3:c.G193A:p.E65K	.	16	1505	1	0	0	1	0.000332116	.	.	.	3454303	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.446	0.0327008461298	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs544824288	1.984e-05	1.984e-05	1.906e-05	2.063e-05	0.0002	1.392e-05	1.203e-05	1.46e-05	1.227e-05	2.987e-05	0	3.826e-05	0	1.872e-05	0.0002	2.158e-05	1.656e-05	0	3.942e-05	3.94e-05	2.569e-05	5.379e-05	0.0001	1.715e-05	1.129e-05	2.26e-05	9.07e-06	4.825e-05	0	0.0001	0	0	0	0	2.939e-05	0	0	0.335	0.12920	T	0.496	0.11335	T	0.01	0.15535	B	0.035	0.22741	B	0.000453	0.44317	U	0.000000	0.999097	0.46054	D	1.885	0.50048	L	-1.46	0.80983	T	-1.3	0.32590	N	0.574	0.59648	-0.4124	0.71633	T	0.439	0.77758	T	10	0.46627453	0.59589	T	0.032701	0.54453	D	0.446	0.74797	0.403	0.43408	0.772666351829	0.77057	0.4498552981011699	0.44903	0.334221301492	0.35445	0.6377581954	0.58245	T	0.318019	0.68943	T	0.00747978	0.52680	T	-0.144167	0.59755	T	0.798392295837402	0.46244	D	0.941806	0.78262	D	0.15239285	0.34596	0.16806974	0.38738	0.15239285	0.34596	0.16806974	0.38737	-11.292	0.81235	D	.	.	0.174	0.38062	B	.	.	3.849076	0.55744	23.6	0.99677066813935011	0.78977	0.69782	0.34325	D	AEFI	0.502153	0.53469	D	-0.218940825453263	0.32356	1.823919	-0.0963334647911718	0.35541	2.057454	0.963483188380352	0.28694	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	5.5	0.81386	3.317000	0.51678	5.938000	0.51432	0.599000	0.40250	0.990000	0.36992	1.000000	0.68203	0.462000	0.28163	0.0:1.0:0.0:0.0	19.592	0.95510	209	0.91859	Myosin, N-terminal, SH3-like|Myosin, N-terminal, SH3-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	5367.44	33	chr17	10516450	.	C	T	5367.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.52;DP=586;ExcessHet=0;FS=4.458;MLEAC=1;MLEAF=0.071;MQ=59.98;MQRankSum=1.09;QD=13.98;ReadPosRankSum=0.266;SOR=0.899	GT:AD:DP:GQ:PL	0/1:176,208:384:99:5378,0,3878	6	0	1	0
chr17	12752735	12752735	G	A	exonic	MYOCD	.	nonsynonymous SNV	MYOCD:NM_001146312:exon10:c.G1447A:p.G483S,MYOCD:NM_153604:exon10:c.G1447A:p.G483S,MYOCD:NM_001378306:exon11:c.G1210A:p.G404S	.	408	1112	2	0	0	2	0.000898473	.	.	.	726983	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.045	.	0.0056	0.00479233	0.0023	0.0151	0.0010	0.0001	0	0.0016	0.0011	0	0.0021733	336	154602	rs28730823	0.0012	0.0012	0.0013	0.0012	0.0155	0.0012	0.0012	0.0144	0.0140	0.0155	0.0014	0.0251	0	0	0.0028	0.0003	0.0040	2.319e-05	0.0056	0.0056	0.0059	0.0053	0.0165	0.0053	0.0052	0.0155	0.0150	0.0165	0	0.0028	0.0259	0	0	0	0.0004	0.0066	0	0.742	0.06502	T	0.854	0.11153	T	0.942	0.52977	P	0.489	0.47308	P	0.003792	0.34487	N	0.337536	0.926558	0.42258	D	1.635	0.41844	L	0.92	0.45636	T	-0.54	0.16598	N	0.16	0.16725	-1.1054	0.03497	T	0.037	0.15943	T	10	0.0042532384	0.00085	T	.	.	.	0.045	0.12272	.	.	0.604221974643	0.60105	0.21384719930071788	0.21300	0.128176617128	0.14447	0.343289285898	0.16929	T	0.197655	0.55440	T	-0.565725	0.00234	T	-0.572427	0.15228	T	0.00922002506774415	0.00117	T	0.888511	0.61827	D	0.027434807	0.01935	0.040505446	0.04392	0.03204305	0.03156	0.048358075	0.07165	-0.884	0.00885	T	0.14941420791719467	0.17471	0.065	0.04764	B	.;.;.	.;.;.	2.247077	0.28697	17.88	0.8802789523588419	0.17662	0.86208	0.45445	D	AEFDBI	0.401773	0.47613	N	-0.293049507374275	0.29415	1.631056	-0.33697767070306	0.26915	1.489931	3.9449524579174E-4	0.06820	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	5.45	0.953	0.18714	1.945000	0.39900	2.446000	0.32792	0.618000	0.50648	0.680000	0.28438	0.996000	0.32793	0.242000	0.23054	0.1325:0.0:0.5878:0.2796	6.250	0.20047	941	0.13089	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008560	0.030303	0.010870	0.002924	0.000000	0.017241	0.003049	0.000000	0.07143	100.44	33	chr17	12752735	.	G	A	100.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.37;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=0.697;SOR=0.368	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1145	6	0	1	0
chr17	12763417	12763417	A	G	exonic	MYOCD	.	nonsynonymous SNV	MYOCD:NM_153604:exon13:c.A2590G:p.M864V,MYOCD:NM_001146312:exon14:c.A2734G:p.M912V,MYOCD:NM_001378306:exon15:c.A2497G:p.M833V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.0189251363677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.854e-07	6.84e-07	0	1.378e-06	9.006e-07	0	0	.	.	0	0	0	0	0	0	9.006e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.019	0.60337	D	0.11	0.26188	B	0.067	0.27542	B	0.000995	0.40743	N	0.322540	0.980656	0.39690	D	2.37	0.68279	M	0.71	0.51228	T	-3.08	0.63323	D	0.287	0.32481	-0.8836	0.49472	T	0.156	0.48772	T	10	0.2602691	0.43474	T	0.018925	0.41149	T	0.124	0.34239	0.434	0.48500	0.2338531098	0.23012	0.3492407188667276	0.34838	0.0766186226647	0.08601	0.382918357849	0.22670	T	0.765765	0.93691	D	-0.0822884	0.39343	T	-0.355978	0.38518	T	0.939541280269623	0.61109	D	0.729627	0.36767	T	0.57897514	0.71553	0.50497353	0.71387	0.57897514	0.71554	0.50497353	0.71388	-3.571	0.23923	T	0.18584206291402144	0.24164	0.072	0.06024	B	.;.;.	.;.;.	2.030157	0.25802	16.89	0.9553753280761188	0.27180	0.92807	0.56593	D	AEFBI	0.322787	0.42518	N	-0.040566593102719	0.40024	2.369992	0.0591931208883923	0.42518	2.573078	5.42757811138387E-4	0.07273	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.08	5.01	0.66477	3.455000	0.52757	2.328000	0.32177	0.756000	0.94297	0.996000	0.39380	0.757000	0.26594	0.423000	0.27295	0.9277:0.0:0.0723:0.0	11.184	0.47871	946	0.12043	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1804.53	35	chr17	12763417	.	A	G	1804.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.212;DP=328;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-0.176;SOR=0.667	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	6	0	1	0
chr17	16432176	16432178	TGC	-	exonic	TRPV2	.	nonframeshift deletion	TRPV2:NM_016113:exon12:c.1865_1867del:p.L627del	.	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0084	0.0071	0.0099	0.0061	0.0035	0.0075	0.0045	0.0155	0.0008452	22	26028	rs769135234	5.272e-05	0.0069	4.825e-05	5.725e-05	0.0004	4.318e-05	3.943e-05	6.165e-05	4.079e-05	3.03e-05	2.292e-05	0	5.137e-05	7.604e-05	0.0004	5.647e-05	5.048e-05	1.182e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	61.4	45	chr17	16432175	.	GTGC	G	61.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.842;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr17	16948819	16948819	G	A	exonic	TNFRSF13B	.	nonsynonymous SNV	TNFRSF13B:NM_012452:exon3:c.C364T:p.R122W	Immunodeficiency, common variable, 2, Autosomal recessive, Autosomal dominant;Immunoglobulin A deficiency 2	1	1516	5	0	0	5	0.00164636	.	.	.	574316	Immunodeficiency,_common_variable,_2	MONDO:MONDO:0009413,MedGen:C3150354,OMIM:240500,Orphanet:1572	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.201	0.0306280925825	.	.	0.0003	0	0.0003	0	0	0.0005	0	0.0001	0.0002652	41	154602	rs201124889	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	2.987e-05	0.0004	0	0	0.0002	0.0002	0.0002	0.0002	6.956e-05	6.572e-05	6.567e-05	2.569e-05	0.0001	0.0002	3.517e-05	2.617e-05	2.846e-05	1.858e-05	2.413e-05	0	0	0	0	0.0003	0	7.35e-05	0	0.0002	0.002	0.72154	D	0.004	0.76473	D	0.078	0.24389	B	0.018	0.18489	B	0.165599	0.03072	N	1.858000	1	0.08975	N	1.78	0.46185	L	-3.51	0.94693	D	-2.91	0.60982	D	0.267	0.39760	-0.3265	0.74237	T	0.655	0.87993	D	10	0.055140167	0.05980	T	0.030628	0.52897	D	0.201	0.48592	0.233	0.16155	0.504907739247	0.50128	0.30778905132803314	0.30691	0.0733636004549	0.08227	0.265842139721	0.05607	T	0.074946	0.86211	T	-0.198565	0.21012	T	-0.206846	0.53996	T	0.0890177278841217	0.11101	T	0.677732	0.28664	T	0.1954241	0.41330	0.12751001	0.30693	0.1954241	0.41330	0.12751001	0.30693	-4.619	0.34766	T	.	.	0.101	0.17573	B	.;.;.	.;.;.	2.443986	0.31461	18.75	0.43935248932103221	0.03343	0.00606	0.02697	N	AEFDGBI	0.068436	0.13501	N	-1.05107831441967	0.07566	0.3519261	-1.15213914051359	0.06729	0.3249069	0.9998796924245	0.44625	0.722319	0.85440	0	0.698795	0.70079	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.96	-2.88	0.05342	-0.302000	0.08259	0.720000	0.21004	-0.923000	0.02187	0.000000	0.06391	0.012000	0.20211	0.024000	0.12247	0.1797:0.0:0.2208:0.5995	5.487	0.16049	536	0.73233	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1208.45	46	chr17	16948819	.	G	A	1208.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.15;DP=360;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=0.615;SOR=0.697	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	6	0	1	0
chr17	17138116	17138116	C	G	exonic	MPRIP	.	nonsynonymous SNV	MPRIP:NM_001364716:exon7:c.C937G:p.P313A	.	418	1101	3	0	0	3	0.00136054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0002	0	0	0	0	0.0003	0.0013	0.0006	0.0001488	23	154602	rs376190965	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0009	6.647e-05	5.567e-05	0	0	0	0.0021	0.0002	0.0003	0.0006	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	0.0001	0.0004	0.0003	0	0	6.556e-05	0	0	0	0.0034	0.0002	0.0014	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1198.83	36	chr17	17138116	.	C	G	1198.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.95;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=0.1;SOR=0.798	GT:AD:DP:GQ:PL	0/1:32,47:79:99:1209,0,635	6	0	1	0
chr17	17202856	17202856	C	T	exonic	PLD6	.	nonsynonymous SNV	PLD6:NM_178836:exon2:c.G670A:p.G224R	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0127374698749	7.7e-05	.	4.119e-05	0	0	0	0	4.496e-05	0	0.0001	4.53e-05	7	154602	rs371273427	1.505e-05	1.505e-05	1.089e-05	1.925e-05	0.0002	9.85e-06	8.41e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	1.169e-05	4.967e-05	5.797e-05	6.573e-06	6.567e-06	0	1.345e-05	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.055	0.22733	B	0.002	0.06944	B	0.201562	0.03324	N	1.715750	1	0.08975	N	0	0.06538	N	1.39	0.33842	T	-0.24	0.10833	N	0.069	0.04188	-0.9835	0.34187	T	0.061	0.25492	T	10	0.051155955	0.04953	T	0.012737	0.31575	T	0.027	0.05988	0.304	0.27325	0.0716867268079	0.06686	0.40891705604037093	0.40807	0.637666034433	0.57498	0.285414814949	0.08258	T	0.074311	0.34908	T	-0.42486	0.01593	T	-0.691692	0.06292	T	0.0739518880462368	0.09195	T	0.289471	0.05256	T	0.09912537	0.23390	0.07904695	0.17760	0.09912537	0.23390	0.07904695	0.17759	-3.052	0.10752	T	.	.	0.085	0.10159	B	.	.	1.418219	0.18343	13.69	0.79757766308990818	0.12887	0.06388	0.12390	N	AEFBCI	0.049190	0.08473	N	-1.10668226496479	0.06523	0.300522	-1.1305436541137	0.07122	0.3452636	0.692478706973162	0.22604	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	5.01	-0.301	0.12165	0.242000	0.17862	4.314000	0.42978	-0.048000	0.17318	0.001000	0.13787	1.000000	0.68203	0.004000	0.06068	0.5152:0.4046:0.0802:0.0	7.245	0.25294	725	0.54935	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	507.44	35	chr17	17202856	.	C	T	507.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.912;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-1.153;SOR=0.665	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1198	6	0	1	0
chr17	17215284	17215284	C	T	exonic	FLCN	.	nonsynonymous SNV	FLCN:NM_144997:exon12:c.G1333A:p.A445T,FLCN:NM_001353230:exon13:c.G1333A:p.A445T,FLCN:NM_001353231:exon13:c.G1333A:p.A445T,FLCN:NM_001353229:exon14:c.G1387A:p.A463T	Birt-Hogg-Dube syndrome, Autosomal dominant;Colorectal cancer, somatic;Pneumothorax, primary spontaneous, Autosomal dominant;Renal carcinoma, chromophobe, somatic	0	1493	28	1	0	30	0.00994695	.	.	YES	18409	Hereditary_cancer-predisposing_syndrome|not_specified|Birt-Hogg-Dube_syndrome|not_provided|Birt-Hogg-Dube_syndrome_1|Familial_spontaneous_pneumothorax|Colorectal_cancer|Nonpapillary_renal_cell_carcinoma|17p11.2_microduplication_syndrome|Carcinoma_of_colon	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0800444,MedGen:C0346010,OMIM:PS135150,Orphanet:122|MedGen:C3661900|MONDO:MONDO:0800445,MedGen:CN375946,OMIM:135150,Orphanet:122|MONDO:MONDO:0008259,MedGen:C1868193,OMIM:173600,Orphanet:2903|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|Gene:100038247,MONDO:MONDO:0012574,MedGen:C2931246,OMIM:610883,Orphanet:1713|MONDO:MONDO:0002032,MedGen:C0699790	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.203	0.0604308747319	0.0019	0.000798722	0.0027	0.0005	0.0013	0	0.0008	0.0037	0.0022	0.0033	0.0026132	404	154602	rs41419545	0.0030	0.0030	0.0029	0.0031	0.0132	0.0029	0.0029	0.0108	0.0099	0.0005	0.0021	0.0024	0	0.0007	0.0132	0.0032	0.0032	0.0040	0.0024	0.0024	0.0025	0.0023	0.0059	0.0022	0.0022	0.0049	0.0045	0.0003	0	0.0059	0.0035	0.0002	0.0005	0.0204	0.0033	0.0043	0.0023	0.87	0.02606	T	0.553	0.09329	T	0.0	0.02946	B	0.0	0.01387	B	0.257102	0.15389	N	0.695908	1	0.08975	N	-1.04	0.01097	N	-2.99	0.92108	D	0.19	0.04947	N	0.205	0.22742	-0.5684	0.66079	T	0.295	0.66640	T	10	0.004835129	0.00103	T	0.060431	0.67999	D	0.203	0.48915	.	.	0.187035705434	0.18338	0.2022582816453621	0.20142	0.356774467599	0.37413	0.292996585369	0.09360	T	0.30576	0.67800	T	-0.477074	0.00770	T	-0.459533	0.26650	T	0.00136713459327549	0.00014	T	0.59684	0.22194	T	0.023952244	0.01180	0.045600146	0.06172	0.03681238	0.04600	0.042168256	0.04959	-3.216	0.12677	T	0.08208204089075731	0.04303	0.064	0.01762	B	.	.	-0.579733	0.01628	0.113	0.74823135621684544	0.10840	0.01028	0.03857	N	AEFDGBI	0.025846	0.01838	N	-1.83791171747947	0.00459	0.01974575	-1.83918489512921	0.00641	0.02852158	0.980657301027315	0.30161	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.66	-7.45	0.01229	-0.032000	0.12217	-3.274000	0.02915	-0.773000	0.03420	0.049000	0.21372	0.000000	0.08366	0.000000	0.00833	0.0:0.2869:0.3329:0.3802	7.727	0.27930	759	0.50631	Folliculin, C-terminal|Folliculin/SMCR8, tripartite DENN domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.011581	0.005051	0.017663	0.020468	0.000000	0.008621	0.000000	0.007576	0.07143	1202.44	34	chr17	17215284	.	C	T	1202.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.375;DP=287;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-0.275;SOR=0.751	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1192	6	0	1	0
chr17	17577022	17577022	G	T	exonic	PEMT	.	nonsynonymous SNV	PEMT:NM_001267551:exon2:c.C36A:p.D12E,PEMT:NM_001267552:exon2:c.C102A:p.D34E,PEMT:NM_148172:exon2:c.C102A:p.D34E	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.019271496891	.	.	4.164e-05	0	0	0	0	4.539e-05	0	0.0001	3.23e-05	5	154602	rs745540999	9.583e-06	1.026e-05	6.81e-06	1.238e-05	0.0003	5.56e-06	4.35e-06	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	6.299e-06	1.656e-05	4.639e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.63226	D	0.048	0.48594	D	0.087	0.24971	B	0.095	0.30245	B	0.000007	0.62929	D	0.060940	0.999942	0.51968	D	.	.	.	-1.25	0.79072	T	-1.06	0.27669	N	0.475	0.51048	-0.8430	0.52446	T	0.233	0.59977	T	10	0.31115746	0.48588	T	0.019271	0.41587	T	0.175	0.44197	0.435	0.48664	0.747598145101	0.74532	0.7829718845327404	0.78248	0.160325046818	0.18085	0.516818642616	0.41178	T	.	.	.	-0.234682	0.16035	T	-0.393353	0.34160	T	0.897576510906219	0.54951	D	0.386661	0.16858	T	.	.	.	.	.	.	.	.	-3.091	0.12432	T	.	.	0.283	0.64062	B	.;.;.	.;.;.	2.742202	0.35919	20.1	0.98662361531862319	0.44345	0.15544	0.18964	N	AEFDBIJ	0.144112	0.26699	N	-0.484940393498246	0.22573	1.206312	-0.462662316060171	0.23189	1.263401	0.943551024151223	0.27574	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.31	-0.337	0.12027	0.343000	0.19686	2.233000	0.31547	0.618000	0.50648	0.934000	0.32416	1.000000	0.68203	0.811000	0.38219	0.2877:0.1613:0.3849:0.1661	0.814	0.01029	734	0.53889	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1336.63	35	chr17	17577022	.	G	T	1336.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.23;DP=308;ExcessHet=0;FS=4.904;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.295;SOR=1.236	GT:AD:DP:GQ:PL	0/1:62,53:115:99:1347,0,1588	6	0	1	0
chr17	17793784	17793786	AGC	0	exonic	RAI1	.	.	.	Smith-Magenis syndrome, Autosomal dominant, Isolated cases	32	478	558	335	119	1347	0.562271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	20643.3	114	chr17	17793784	.	AGC	*	20643.3	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.113;DP=1086;ExcessHet=1.4958;FS=0.622;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=25.14;ReadPosRankSum=0.099;SOR=0.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:224:99:.:.:9315,9315,9315:.	6	0	1	0
chr17	17793787	17793788	AG	0	exonic	RAI1	.	.	.	Smith-Magenis syndrome, Autosomal dominant, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	19632.9	116	chr17	17793787	.	AG	*	19632.9	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.026;DP=1094;ExcessHet=1.4958;FS=0.596;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=25.83;ReadPosRankSum=0.441;SOR=0.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:178:99:.:.:9144,8479,8409:.	6	0	1	0
chr17	17819659	17819659	G	A	exonic	SREBF1	.	nonsynonymous SNV	SREBF1:NM_001321096:exon3:c.C518T:p.P173L,SREBF1:NM_004176:exon3:c.C590T:p.P197L,SREBF1:NM_001005291:exon4:c.C680T:p.P227L	.	402	1113	7	0	0	7	0.0031348	.	.	.	703997	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.127	0.0159295662998	0.0052	0.00219649	0.0050	0.0015	0.0045	0	0.0013	0.0076	0.0098	0.0004	0.0046507	719	154602	rs114001633	0.0072	0.0071	0.0074	0.0069	0.0084	0.0070	0.0070	0.0083	0.0082	0.0024	0.0057	0.0049	0	0.0017	0.0057	0.0084	0.0076	0.0005	0.0052	0.0052	0.0054	0.0050	0.0078	0.0049	0.0048	0.0073	0.0071	0.0022	0	0.0078	0.0052	0	0.0012	0.0068	0.0078	0.0061	0	0.491	0.09128	T	0.567	0.16914	T	0.001	0.07471	B	0.002	0.06944	B	0.000007	0.62929	N	0.066076	0.99967	0.20745	N	1.1	0.28011	L	0.65	0.63568	T	-1.21	0.30762	N	0.155	0.16028	-1.0463	0.15447	T	0.112	0.40029	T	10	0.006355375	0.00144	T	0.01593	0.36930	T	0.127	0.34888	.	.	0.082315109003	0.07666	0.10340040442223171	0.10270	0.305260887764	0.32830	0.38338214159	0.22735	T	0.422868	0.77380	T	-0.473877	0.00804	T	-0.4482	0.27895	T	0.00114388923650348	0.00011	T	0.777822	0.45098	T	0.036058877	0.04362	0.02994412	0.01390	0.036058877	0.04362	0.02994412	0.01389	-4.238	0.30162	T	.	.	0.064	0.02927	B	.;.;.	.;.;.	2.195373	0.27999	17.65	0.84759611732675255	0.15481	0.04634	0.10300	N	AEFGBHCI	0.170114	0.29699	N	-0.797834808254444	0.13366	0.6579506	-0.716077191492659	0.16560	0.8766532	0.999999999978281	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.696144	0.63334	0	0.723	0.93126	0	.	.	3.76	0.403	0.15569	2.066000	0.41078	1.185000	0.24724	0.672000	0.70159	0.814000	0.29906	0.001000	0.17328	0.954000	0.50415	0.218:0.0:0.4118:0.3702	3.039	0.05761	300	0.87974	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006579	0.025773	0.006812	0.002924	0.050000	0.000000	0.003067	0.003817	0.1429	1738.65	49	chr17	17819659	.	G	A	1738.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.69;DP=263;ExcessHet=0.3476;FS=1.479;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=-0.031;SOR=0.857	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1196	5	0	2	0
chr17	18251742	18251742	G	-	exonic	FLII	.	frameshift deletion	FLII:NM_001256265:exon11:c.1156delC:p.Q386Rfs*6,FLII:NM_001256264:exon12:c.1288delC:p.Q430Rfs*6,FLII:NM_002018:exon12:c.1321delC:p.Q441Rfs*6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	52.4	35	chr17	18251741	.	TG	T	52.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=213;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1367	6	0	1	0
chr17	18263905	18263905	C	T	exonic	MIEF2	.	nonsynonymous SNV	MIEF2:NM_139162:exon4:c.C506T:p.P169L,MIEF2:NM_148886:exon4:c.C539T:p.P180L	.	423	1094	5	0	0	5	0.00227998	.	.	.	4165449	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.127	0.00984906791656	.	.	1.769e-05	0	0	0	0	3.226e-05	0	0	1.94e-05	3	154602	rs753366650	3.658e-05	3.762e-05	3.435e-05	3.882e-05	0.0007	2.853e-05	2.587e-05	0.0002	0.0001	0	4.478e-05	0	0	0	0.0007	2.969e-05	4.976e-05	0.0001	4.598e-05	4.596e-05	6.422e-05	2.689e-05	8.819e-05	2.109e-05	1.527e-05	3.761e-05	2.575e-05	0	0	0	0	0	0	0.0032	8.819e-05	0	0	0.033	0.44694	D	0.0	0.92824	D	0.445	0.35971	B	0.03	0.21741	B	0.000012	0.62929	N	0.153078	0.668399	0.43707	D	.	.	.	2.26	0.17923	T	-5.75	0.87760	D	0.183	0.20793	-1.0486	0.14790	T	0.031	0.13461	T	9	0.20646653	0.36909	T	0.009849	0.25675	T	0.127	0.34888	0.664	0.80199	0.216624796971	0.21254	0.5762568141488456	0.57554	0.344181597812	0.36343	0.518399655819	0.41401	T	0.312871	0.68466	T	-0.262271	0.12636	T	-0.432982	0.29597	T	0.235976725816727	0.22233	T	.	.	.	0.2913417	0.52117	0.27110824	0.53008	0.2913417	0.52117	0.27110824	0.53007	-6.065	0.46819	T	.	.	0.135	0.31304	B	.;.	.;.	2.770617	0.36367	20.2	0.99303689805945361	0.58722	0.74160	0.36275	D	AEFGBCI	0.215938	0.34124	N	-0.239610798621019	0.31520	1.768229	-0.230616598372512	0.30445	1.714257	0.998916774170389	0.37962	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.491896	0.07777	0	.	.	5.32	3.31	0.37025	4.710000	0.61563	3.293000	0.37321	0.599000	0.40250	0.889000	0.31176	0.883000	0.27730	0.701000	0.34172	0.0:0.8753:0.0:0.1247	12.529	0.55450	252	0.90114	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	971.49	35	chr17	18263905	.	C	T	971.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.237;DP=288;ExcessHet=0;FS=1.61;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=1.22;SOR=0.493	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1272	6	0	1	0
chr17	18978063	18978063	G	T	exonic	FAM83G	.	nonsynonymous SNV	FAM83G:NM_001039999:exon5:c.C1603A:p.P535T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00466007171668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.13392	T	0.075	0.42794	T	0.001	0.07471	B	0.001	0.04355	B	0.330574	0.04128	N	1.477610	1	0.08975	N	1.2	0.30300	L	2.77	0.11407	T	-0.22	0.10480	N	0.096	0.08506	-0.9690	0.37407	T	0.026	0.11220	T	10	0.05475375	0.05878	T	0.00466	0.11566	T	0.073	0.21317	0.256	0.19689	0.21279746466	0.20884	0.1205643876697132	0.11983	0.203462743921	0.22764	0.260693132877	0.04973	T	0.005399	0.04851	T	-0.294402	0.09199	T	-0.660664	0.08221	T	0.0782754821195694	0.09764	T	0.490351	0.15073	T	0.036517985	0.04506	0.03764092	0.03459	0.036517985	0.04506	0.03764092	0.03459	-4.834	0.34985	T	.	.	0.067	0.03128	B	.;.	.;.	0.420356	0.07912	4.615	0.68381878435913912	0.08641	0.07369	0.13389	N	AEFDBI	0.100855	0.20269	N	-0.9746096955117	0.09149	0.4317818	-1.09201001371875	0.07856	0.3838775	0.691257233659854	0.22591	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.14	-3.64	0.04225	0.489000	0.22096	0.380000	0.17770	0.674000	0.70861	0.002000	0.15269	0.011000	0.20116	0.229000	0.22707	0.2346:0.249:0.2661:0.2503	0.371	0.00353	819	0.41190	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	431.45	33	chr17	18978063	.	G	T	431.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.937;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.64;ReadPosRankSum=-0.618;SOR=0.682	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1078	6	0	1	0
chr17	19341269	19341269	G	A	exonic	B9D1	.	nonsynonymous SNV	B9D1:NM_001321217:exon7:c.C530T:p.A177V	Joubert syndrome 27, Autosomal recessive	67	1452	3	0	0	3	0.00103199	.	.	.	3185249	B9D1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00279553	0	0	.	0	.	0	.	.	0.0019594	51	26028	rs190584073	0.0005	0.0005	0.0006	0.0005	0.0156	0.0005	0.0005	0.0134	0.0126	0.0003	0.0156	0.0003	0.0006	0.0095	0.0014	0.0001	0.0013	0.0022	0.0024	0.0024	0.0019	0.0029	0.0122	0.0022	0.0021	0.0107	0.0102	0.0003	0	0.0122	0	0	0.0100	0	0.0004	0.0062	0.0027	.	.	.	0.054	0.47097	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.2	0.66113	T	.	.	.	0.112	0.09914	.	.	.	.	.	.	.	0.006423712	0.00146	T	.	.	.	.	.	.	.	0.818956124401	0.81724	.	.	.	.	.	.	.	.	.	.	-0.549196	0.00295	T	-0.548685	0.17451	T	.	.	.	0.329367	0.06881	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.37596	B	.	.	0.087733	0.04920	1.498	0.36246847435667495	0.02321	0.02162	0.06348	N	AEFDBCI	0.036366	0.04834	N	.	.	.	.	.	.	0.998421950420108	0.36942	0.536635	0.22144	0	0.588066	0.40923	0	0.489635	0.07774	0	0.664235	0.64389	0	.	.	1.66	-0.615	0.11005	0.607000	0.23906	0.464000	0.18647	-0.212000	0.08331	0.003000	0.16062	0.006000	0.19429	0.004000	0.06068	0.2027:0.0:0.4901:0.3072	2.134	0.03530	711	0.56613	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	342.44	34	chr17	19341269	.	G	A	342.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.286;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-0.56;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1184	6	0	1	0
chr17	19656369	19656369	C	T	exonic	ALDH3A2	.	nonsynonymous SNV	ALDH3A2:NM_000382:exon4:c.C475T:p.L159F,ALDH3A2:NM_001031806:exon4:c.C475T:p.L159F,ALDH3A2:NM_001369136:exon5:c.C475T:p.L159F,ALDH3A2:NM_001369137:exon5:c.C475T:p.L159F,ALDH3A2:NM_001369138:exon5:c.C475T:p.L159F,ALDH3A2:NM_001369139:exon5:c.C475T:p.L159F,ALDH3A2:NM_001369146:exon5:c.C475T:p.L159F	Sjogren-Larsson syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.612	0.108149247733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.841e-07	0	1.376e-06	9e-07	0	0	.	.	0	0	0	0	0	0	9e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.59928	D	0.137	0.33894	T	0.999	0.90584	D	0.988	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.38	0.34346	L	-1.13	0.77719	T	-2.6	0.61722	D	0.569	0.67822	-0.2896	0.75276	T	0.465	0.79301	T	10	0.6122588	0.67509	D	0.108149	0.78454	D	0.612	0.84826	0.555	0.67271	0.871998136743	0.87075	0.6741759750367501	0.67355	0.882093243654	0.69809	0.48786854744	0.37144	T	0.654317	0.89548	D	0.181093	0.72142	D	0.0223517	0.71782	D	0.972841382026672	0.69858	D	0.927507	0.73308	D	0.8255387	0.85595	0.6425163	0.79109	0.8255387	0.85597	0.6425163	0.79110	-4.833	0.35622	T	0.3194412099042188	0.41755	0.293	0.52459	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.572320	0.50323	22.9	0.99873465643319759	0.95076	0.96312	0.68525	D	AEFDBI	0.553788	0.56490	D	0.31923462903431	0.57137	3.879924	0.3029993551499	0.55714	3.734408	0.999982803515169	0.51787	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.71	3.73	0.41982	2.842000	0.47931	1.383000	0.26051	0.529000	0.24592	0.990000	0.36992	0.825000	0.27162	0.218000	0.22407	0.0:0.8515:0.0:0.1485	11.152	0.47692	740	0.53092	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	98.63	31	chr17	19656369	.	C	T	98.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.937;DP=244;ExcessHet=0;FS=20.262;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.01;ReadPosRankSum=0.695;SOR=4.319	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1082:.	6	0	1	0
chr17	20205163	20205163	T	A	exonic	SPECC1	.	nonsynonymous SNV	SPECC1:NM_001033554:exon2:c.T871A:p.S291T,SPECC1:NM_001033555:exon2:c.T871A:p.S291T,SPECC1:NM_001243438:exon2:c.T871A:p.S291T,SPECC1:NM_001033553:exon4:c.T1114A:p.S372T,SPECC1:NM_001243439:exon4:c.T1114A:p.S372T,SPECC1:NM_152904:exon4:c.T1114A:p.S372T	.	421	1095	6	0	0	6	0.00273224	.	.	.	2242751	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.150	0.0140032175671	.	0.000199681	0.0003	0	8.651e-05	0	0	0.0002	0.0011	0.0013	0.0002458	38	154602	rs202164673	0.0002	0.0002	0.0001	0.0002	0.0035	0.0001	0.0001	0.0023	0.0019	0	4.472e-05	0	0	1.872e-05	0.0035	7.824e-05	0.0003	0.0013	7.885e-05	7.876e-05	3.858e-05	0.0001	0.0015	4.497e-05	3.512e-05	0.0007	0.0005	0	0	0	0	0	0	0.0068	4.411e-05	0	0.0015	0.199	0.20532	T	0.07	0.45961	T	0.996	0.77913	D	0.899	0.84481	P	0.000001	0.84330	D	0.096141	0.999012	0.81001	D	2.175	0.60977	M	3.29	0.06445	T	-0.89	0.24026	N	0.581	0.60241	-1.1903	0.00239	T	0.050	0.21339	T	10	0.04552895	0.03634	T	0.014003	0.33816	T	0.150	0.39571	.	.	0.424073947737	0.42026	0.149401718784845	0.14862	0.34671068729	0.36577	0.566220164299	0.48144	T	0.041054	0.25731	T	-0.356165	0.04351	T	-0.324916	0.42033	T	0.11089606974078	0.13515	T	0.833717	0.53695	T	0.1611102	0.36098	0.13529171	0.32396	0.1611102	0.36098	0.13529171	0.32395	-6.193	0.48500	T	.	.	0.087	0.20857	B	.;.;.;.;.;.	.;.;.;.;.;.	3.603827	0.50915	23.0	0.99411727101669356	0.63310	0.88578	0.48571	D	AEFDBI	0.418820	0.48630	N	0.606541019846691	0.73589	5.990683	0.577731892047184	0.73346	5.95553	0.999999557786943	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.11	5.11	0.69188	4.810000	0.62289	7.886000	0.72778	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:0.0:1.0	13.176	0.59048	576	0.70006	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	508.53	38	chr17	20205163	.	T	A	508.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.575;DP=310;ExcessHet=0;FS=1.037;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=-0.736;SOR=0.941	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	6	0	1	0
chr17	20232380	20232380	G	A	exonic	SPECC1	.	nonsynonymous SNV	SPECC1:NM_001033554:exon5:c.G2083A:p.V695M,SPECC1:NM_001033555:exon5:c.G2083A:p.V695M,SPECC1:NM_001243438:exon5:c.G2083A:p.V695M,SPECC1:NM_001033553:exon7:c.G2326A:p.V776M,SPECC1:NM_001243439:exon7:c.G2326A:p.V776M,SPECC1:NM_152904:exon7:c.G2326A:p.V776M	.	419	1060	41	2	0	45	0.0207852	.	.	.	2811143	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	0.00386095762704	0.0006	0.00139776	0.0022	0	0.0014	0	0	0.0017	0.0071	0.0073	0.0015653	242	154602	rs145743421	0.0012	0.0012	0.0009	0.0014	0.0192	0.0011	0.0011	0.0163	0.0152	0.0003	0.0008	0.0002	0	0.0001	0.0192	0.0007	0.0018	0.0067	0.0009	0.0009	0.0007	0.0010	0.0060	0.0007	0.0007	0.0043	0.0037	0.0001	0	0.0008	0	0	0	0.0170	0.0011	0.0024	0.0060	0.232	0.49117	T	0.073	0.43159	T	0.148	0.27908	B	0.058	0.26451	B	.	.	.	.	0.999962	0.18878	N	1.445	0.36358	L	0.87	0.46412	T	-0.13	0.12099	N	0.225	0.25622	-1.0323	0.19713	T	0.032	0.13942	T	9	0.0046572387	0.00097	T	0.003861	0.09055	T	0.057	0.16321	.	.	0.307966526162	0.30417	0.10910592302382832	0.10839	0.0941472671673	0.10632	0.285829782486	0.08318	T	0.01536	0.12902	T	-0.518326	0.00450	T	-0.513171	0.20990	T	0.0181061043531632	0.00533	T	0.755524	0.37862	T	0.023999518	0.01190	0.05838911	0.10780	0.023999518	0.01190	0.05838911	0.10779	-5.403	0.41407	T	.	.	0.100	0.22135	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.383666	0.17953	13.47	0.9110648896828234	0.20359	0.58695	0.30711	D	AEFBCI	0.106355	0.21223	N	-0.95251773179994	0.09636	0.4569352	-0.857123535416495	0.13117	0.6786628	0.107333532721448	0.16553	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	4.22	0.748	0.17525	2.643000	0.46271	5.093000	0.47370	-0.797000	0.03199	1.000000	0.71638	1.000000	0.68203	0.132000	0.19645	0.3204:0.0925:0.1737:0.4134	1.028	0.01437	580	0.69689	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.011759	0.005263	0.023098	0.002959	0.000000	0.008621	0.015625	0.003906	0.07143	977.44	36	chr17	20232380	.	G	A	977.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.341;DP=248;ExcessHet=0;FS=2.195;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=-1.897;SOR=1.045	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1191	6	0	1	0
chr17	27648858	27648858	A	G	exonic	LGALS9	.	nonsynonymous SNV	LGALS9:NM_001330163:exon9:c.A685G:p.T229A,LGALS9:NM_002308:exon10:c.A848G:p.H283R,LGALS9:NM_009587:exon11:c.A944G:p.H315R	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00932369467253	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs746863921	1.71e-05	1.71e-05	1.634e-05	1.788e-05	2.988e-05	1.174e-05	9.92e-06	1.295e-05	1.106e-05	2.988e-05	0	0	0	0	0	1.979e-05	3.313e-05	0	6.638e-06	6.588e-06	0	1.358e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.069	0.35537	T	0.295	0.20680	T	0.009	0.15093	B	0.019	0.18783	B	0.173804	0.17297	N	0.604873	1	0.18198	N	1.845	0.48678	L	3.52	0.04905	T	-5.37	0.84882	D	0.066	0.04790	-0.9986	0.30311	T	0.026	0.11043	T	10	0.13272226	0.25260	T	0.009324	0.24459	T	0.060	0.17295	0.572	0.69564	0.336647302497	0.33275	0.4089317772762122	0.40809	0.48751925446	0.47580	0.377753287554	0.21938	T	0.187975	0.54175	T	-0.367804	0.03706	T	-0.584574	0.14139	T	0.056454671841922	0.06598	T	0.60444	0.24114	T	0.25218344	0.48232	0.24051756	0.49427	0.25218344	0.48232	0.24051756	0.49426	-11.443	0.84037	D	.	.	0.102	0.18080	B	.;.	.;.	0.793343	0.11639	8.224	0.83350189740517189	0.14678	0.14252	0.18304	N	AEFBCI	0.076091	0.15298	N	-0.80376899030644	0.13214	0.6493814	-0.890354270726465	0.12321	0.6331415	0.00541169719213042	0.10931	0.732398	0.92422	0	0.702456	0.74545	0	0.576033	0.28219	0	0.727631	0.95156	0	.	.	4.63	0.857	0.18162	0.802000	0.26730	0.819000	0.21831	0.733000	0.85838	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.6129:0.1528:0.0871:0.1471	2.571	0.04503	265	0.89590	Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain;Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000572	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	412.44	33	chr17	27648858	.	A	G	412.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.234;DP=232;ExcessHet=0;FS=2.48;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.59;ReadPosRankSum=0.052;SOR=1.134	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1205	6	0	1	0
chr17	29121859	29121859	C	T	exonic	MYO18A	.	nonsynonymous SNV	MYO18A:NM_001346767:exon4:c.G1186A:p.V396I,MYO18A:NM_078471:exon4:c.G1186A:p.V396I,MYO18A:NM_203318:exon4:c.G1186A:p.V396I,MYO18A:NM_001346765:exon5:c.G1222A:p.V408I,MYO18A:NM_001346766:exon5:c.G1222A:p.V408I	.	413	1101	6	2	0	10	0.0045208	.	.	.	2733138	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.011	0.00893352995347	8e-05	.	6.63e-05	0.0001	0.0002	0	0	5.999e-05	0	6.058e-05	7.12e-05	11	154602	rs373443144	9.237e-05	9.303e-05	8.033e-05	0.0001	0.0009	7.96e-05	7.433e-05	0.0003	0.0002	0	8.945e-05	0.0002	0	0	0.0009	9.805e-05	6.626e-05	8.115e-05	6.571e-05	6.567e-05	3.854e-05	9.417e-05	0.0001	3.517e-05	2.616e-05	6.805e-05	5.088e-05	0	0	0	0.0003	0	0	0	0.0001	0	0	0.253	0.16958	T	0.061	0.45530	T	0.014	0.34192	B	0.007	0.23831	B	0.000086	0.51296	N	0.169097	0.727406	0.29863	N	1.71	0.44315	L	-0.63	0.72011	T	-0.6	0.17834	N	0.339	0.38027	-0.8782	0.49903	T	0.182	0.52965	T	10	0.050896704	0.04889	T	0.008934	0.23535	T	0.045	0.12272	.	.	0.482446708537	0.47876	0.21674331670352392	0.21590	0.213380235429	0.23852	0.386709004641	0.23204	T	0.050127	0.28506	T	-0.262651	0.12591	T	-0.417413	0.31373	T	0.027837885543704	0.01665	T	0.873313	0.58144	D	0.026514845	0.01718	0.047677338	0.06919	0.026514845	0.01718	0.047677338	0.06919	-5.724	0.43906	T	.	.	0.082	0.08657	B	.;.;.;.;.	.;.;.;.;.	1.152944	0.15411	11.83	0.98536952524005095	0.42670	0.81950	0.41256	D	AEFBI	0.117584	0.23028	N	-0.436322499875816	0.24206	1.305403	-0.357820534880194	0.26268	1.449808	0.466664202508121	0.20671	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.64	2.52	0.29514	1.199000	0.31842	-0.575000	0.08406	0.599000	0.40250	0.521000	0.27119	0.000000	0.08366	0.522000	0.29520	0.1221:0.6887:0.0:0.1893	7.283	0.25496	242	0.90534	Myosin, N-terminal, SH3-like;.;.;Myosin, N-terminal, SH3-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1495.63	35	chr17	29121859	.	C	T	1495.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.22;DP=305;ExcessHet=0;FS=2.302;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-0.218;SOR=0.95	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1327	6	0	1	0
chr17	31853010	31853010	G	A	exonic	COPRS	.	nonsynonymous SNV	COPRS:NM_001330176:exon3:c.C151T:p.P51S,COPRS:NM_018405:exon3:c.C187T:p.P63S	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0149136626246	.	.	2.471e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs773314060	2.189e-05	2.189e-05	1.634e-05	2.751e-05	0.0003	1.584e-05	1.356e-05	0.0002	0.0002	0	0	0	0	0	0.0003	4.498e-06	1.656e-05	0.0003	6.571e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.013	0.53900	D	0.024	0.56640	D	0.573	0.38659	P	0.294	0.40804	B	0.238836	0.15756	N	0.599907	1	0.08975	N	2.42	0.70002	M	0.59	0.53943	T	-5.09	0.82961	D	0.139	0.17828	-1.0055	0.28307	T	0.103	0.38044	T	10	0.11518875	0.21693	T	0.014914	0.35329	T	0.059	0.16972	0.173	0.07894	0.448877186464	0.44507	0.08981039020694367	0.08914	0.153351658725	0.17303	0.315866053104	0.12795	T	0.108588	0.42404	T	-0.359323	0.04168	T	-0.461771	0.26406	T	0.806199610233307	0.46780	D	0.573243	0.20728	T	0.18457505	0.39780	0.18174268	0.41057	0.18457505	0.39779	0.18174268	0.41056	-3.34	0.14259	T	.	.	0.079	0.07937	B	.;.;.	.;.;.	1.578666	0.20203	14.64	0.99329188715756489	0.59700	0.22898	0.21899	N	AEFBI	0.070172	0.13920	N	-0.679894282471142	0.16596	0.8469295	-0.753219287959048	0.15644	0.8237593	1.33170543523043E-5	0.02871	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.84	0.259	0.14839	0.376000	0.20265	0.739000	0.21146	0.596000	0.33519	0.609000	0.27821	0.884000	0.27742	0.049000	0.15107	0.0757:0.2634:0.3895:0.2714	3.754	0.08104	920	0.19381	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	497.63	36	chr17	31853010	.	G	A	497.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.8;DP=205;ExcessHet=0;FS=3.164;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=0.063;SOR=1.46	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1256	6	0	1	0
chr17	31937518	31937518	A	G	exonic	SUZ12	.	nonsynonymous SNV	SUZ12:NM_001321207:exon1:c.A272G:p.E91G,SUZ12:NM_015355:exon1:c.A272G:p.E91G	.	.	.	.	.	.	.	.	0.4032	0.472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.509	0.170372519855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.209e-07	5.472e-06	1.424e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.732e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.001	0.83351	D	0.998	0.73220	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.01	0.54746	M	1.34	0.34841	T	-6.12	0.90060	D	0.682	0.68863	-0.7288	0.59024	T	0.198	0.55372	T	10	0.7808726	0.77843	D	0.170373	0.84795	D	0.509	0.78910	0.784	0.90768	0.491313100916	0.48765	0.7602202627386682	0.75970	1.87614662658	0.92565	0.852665781975	0.90016	D	0.649718	0.89356	D	0.105834	0.64917	D	-0.085753	0.64480	T	0.994472324848175	0.85785	D	0.972478	0.91107	D	0.82575995	0.85610	0.6234578	0.78057	0.82575995	0.85611	0.6234578	0.78058	-12.768	0.88384	D	0.7932016312448855	0.87129	0.997	0.96796	P	.;.	.;.	5.797117	0.93596	33	0.98623559356824397	0.43812	0.95022	0.63154	D	AEFDGBCI	0.919732	0.89067	D	0.705760167248634	0.80010	7.200528	0.686738845766392	0.81371	7.51103	0.999999999993103	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	5.13	5.13	0.69729	7.740000	0.83913	10.942000	0.84347	0.684000	0.82519	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.929	0.70547	955	0.09969	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	35	chr17	31937518	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,103,1132	6	1	0	0
chr17	32050086	32050086	T	G	exonic	LRRC37B	.	nonsynonymous SNV	LRRC37B:NM_052888:exon11:c.T2760G:p.I920M,LRRC37B:NM_001321350:exon14:c.T2514G:p.I838M	.	508	1003	11	0	0	11	0.00545364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.00410719751957	7.7e-05	0.00159744	0.0010	0	8.72e-05	0.0004	0	0.0001	0.0034	0.0062	0.000815	126	154602	rs139116171	0.0004	0.0004	0.0002	0.0007	0.0064	0.0004	0.0004	0.0059	0.0058	0	0	0	5.085e-05	0	0.0019	3.418e-05	0.0005	0.0064	0.0003	0.0003	0.0002	0.0004	0.0068	0.0002	0.0002	0.0050	0.0044	2.406e-05	0	0	0	0.0002	0	0	8.821e-05	0	0.0068	0.002	0.78490	D	0.0	0.92824	D	0.992	0.64738	D	0.488	0.47288	P	.	.	.	.	1	0.08975	N	1.545	0.39105	L	0.44	0.56609	T	-2.11	0.48020	N	0.319	0.44761	-0.9198	0.45581	T	0.155	0.48636	T	9	0.0062882304	0.00142	T	0.004107	0.09838	T	0.139	0.37390	.	.	0.171220215726	0.16700	0.0796665085109262	0.07901	1.13374842906	0.78709	0.48195618391	0.36327	T	0.03748	0.25348	T	-0.43701	0.01346	T	-0.397899	0.33628	T	0.0459167522278203	0.04768	T	0.821518	0.49005	T	0.27104175	0.50175	0.19021787	0.42412	0.27104175	0.50175	0.19021787	0.42411	-8.675	0.65583	D	.	.	0.107	0.26357	B	.;.;.;.;.	.;.;.;.;.	0.954238	0.13303	9.807	0.21520931450192912	0.00824	0.01244	0.04385	N	AEFI	0.024153	0.01450	N	-0.701686904588069	0.15974	0.8098206	-0.977271374482864	0.10296	0.5176848	1.27678049995243E-6	0.01202	0.651	0.46895	0	0.633656	0.55848	0	0.547309	0.15389	0	0.683762	0.67416	0	.	.	1.78	-0.959	0.09816	0.824000	0.27034	-1.398000	0.05533	0.233000	0.18164	0.035000	0.20724	0.000000	0.08366	0.004000	0.06068	0.0:0.1928:0.2902:0.517	2.474	0.04292	969	0.06854	LRRC37A/B like protein 1, C-terminal;LRRC37A/B like protein 1, C-terminal;LRRC37A/B like protein 1, C-terminal;LRRC37A/B like protein 1, C-terminal;LRRC37A/B like protein 1, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002525	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.015152	0.07143	796.83	17	chr17	32050086	.	T	G	796.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.051;DP=196;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=0.237;SOR=0.755	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1035	6	0	1	0
chr17	32653853	32653853	T	A	exonic	MYO1D	.	nonsynonymous SNV	MYO1D:NM_001303279:exon19:c.A2585T:p.H862L,MYO1D:NM_015194:exon19:c.A2585T:p.H862L	.	432	1071	17	2	0	21	0.00970874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.0175565516486	0.0023	0.000998403	0.0025	0.0003	0.0011	0	0.0002	0.0026	0.0044	0.0071	0.0023997	371	154602	rs138039699	0.0028	0.0028	0.0027	0.0030	0.0068	0.0028	0.0027	0.0061	0.0059	0.0004	0.0009	0.0068	2.521e-05	0.0001	0.0068	0.0028	0.0039	0.0065	0.0017	0.0017	0.0020	0.0015	0.0054	0.0016	0.0015	0.0038	0.0032	0.0004	0	0.0006	0.0072	0	0	0.0034	0.0027	0.0028	0.0054	0.383	0.11085	T	0.611	0.07972	T	0.292	0.32352	B	0.186	0.36104	B	0.001063	0.40389	U	0.000000	0.999986	0.54805	D	1.545	0.39105	L	1.31	0.35405	T	-3.66	0.70067	D	0.692	0.71676	-1.0246	0.22214	T	0.114	0.40605	T	10	0.011826187	0.00257	T	0.017557	0.39307	T	0.242	0.54781	.	.	0.724517356449	0.72207	0.5444599775592731	0.54371	0.340908758652	0.36029	0.68586397171	0.65111	T	0.209828	0.57015	T	-0.327915	0.06271	T	-0.240078	0.50792	T	0.032886410562262	0.02452	T	0.849315	0.61165	T	0.15112223	0.34370	0.1641063	0.38033	0.15112223	0.34370	0.1641063	0.38032	-7.366	0.56664	T	.	.	0.159	0.38062	B	.;.;.	.;.;.	3.260569	0.44588	22.0	0.97275753710753421	0.33158	0.98503	0.83469	D	AEFBI	0.927141	0.90933	D	0.24052626963992	0.53173	3.487336	0.372102693800617	0.59848	4.166513	0.999657636595545	0.41424	0.706548	0.73137	0	0.653731	0.59785	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.89	5.89	0.94758	5.634000	0.67507	6.118000	0.53749	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:0.0:0.0:1.0	14.243	0.65518	904	0.23766	Class I myosin tail homology domain|Class I myosin tail homology domain;Class I myosin tail homology domain|Class I myosin tail homology domain;Class I myosin tail homology domain|Class I myosin tail homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.004076	0.002924	0.000000	0.000000	0.009146	0.011364	0.07143	1030.44	38	chr17	32653853	.	T	A	1030.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.34;DP=313;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=-0.763;SOR=0.646	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	6	0	1	0
chr17	32659167	32659167	G	A	exonic	MYO1D	.	nonsynonymous SNV	MYO1D:NM_001303279:exon17:c.C2293T:p.P765S,MYO1D:NM_015194:exon17:c.C2293T:p.P765S	.	430	1062	29	1	0	31	0.0143852	.	.	.	727101	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.553	.	0.0058	0.00479233	0.0028	0.0117	0.0008	0.0003	0	0.0015	0.0044	0.0057	0.0026714	413	154602	rs7209106	0.0016	0.0016	0.0015	0.0018	0.0232	0.0016	0.0016	0.0200	0.0188	0.0136	0.0011	0.0008	7.557e-05	5.616e-05	0.0232	0.0009	0.0029	0.0060	0.0040	0.0040	0.0040	0.0040	0.0112	0.0038	0.0037	0.0104	0.0101	0.0112	0	0.0012	0	0.0004	0	0.0102	0.0013	0.0057	0.0054	0.125	0.27310	T	0.214	0.30143	T	0.776	0.44148	P	0.327	0.41976	B	0.001388	0.39175	U	0.000000	1	0.81001	D	2.285	0.65182	M	-2.23	0.88298	D	-4.8	0.80682	D	0.546	0.57263	0.351	0.88360	D	0.656	0.88023	D	10	0.008619487	0.00195	T	.	.	.	0.553	0.81544	.	.	0.928114125945	0.92738	0.6803579163466393	0.67974	0.425124690016	0.42928	0.49696803093	0.38405	T	0.294422	0.66710	T	-0.14127	0.29687	T	0.0353296	0.72624	D	0.0387319247505161	0.03462	T	0.946205	0.79569	D	0.16669247	0.37021	0.22630909	0.47604	0.16669247	0.37020	0.22630909	0.47603	-5.781	0.44408	T	.	.	0.277	0.54926	B	.;.;.	.;.;.	4.284750	0.65301	24.8	0.99733506155297436	0.82975	0.95800	0.66207	D	AEFGBCI	0.953144	0.96919	D	0.685769160214298	0.78699	6.924677	0.730453856576185	0.84689	8.363094	0.999999999995204	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.630245	0.45026	0	0.733575	0.97253	0	.	.	6.07	6.07	0.98675	7.973000	0.87648	11.824000	0.97325	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	18.153	0.89614	917	0.20147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.009511	0.011696	0.000000	0.008621	0.006098	0.000000	0.07143	1604.46	34	chr17	32659167	.	G	A	1604.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.816;DP=325;ExcessHet=0;FS=0.64;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.057;SOR=0.613	GT:AD:DP:GQ:PL	0/1:68,67:135:99:1615,0,1597	6	0	1	0
chr17	35127179	35127179	G	T	exonic	FNDC8	.	nonsynonymous SNV	FNDC8:NM_017559:exon2:c.G347T:p.G116V	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.00688920088767	0.0009	0.000199681	0.0009	0.0003	8.637e-05	0	0.0047	0.0009	0	0.0012	0.0008732	135	154602	rs147725468	0.0011	0.0011	0.0011	0.0011	0.0012	0.0011	0.0010	0.0011	0.0011	8.961e-05	8.944e-05	0	0	0.0037	0.0005	0.0012	0.0007	0.0009	0.0007	0.0007	0.0005	0.0008	0.0008	0.0006	0.0005	0.0004	0.0004	0.0002	0	0.0002	0	0	0.0044	0	0.0006	0	0.0008	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.984	0.76113	D	0.000111	0.50451	D	0.000000	0.999088	0.46032	D	1.975	0.53506	M	1.28	0.35960	T	-6.17	0.90254	D	0.618	0.63374	-0.9285	0.44357	T	0.141	0.46110	T	10	0.013803124	0.00292	T	0.006889	0.18233	T	0.245	0.55201	.	.	0.185906805712	0.18197	0.35156934571033516	0.35070	0.595800269434	0.54840	0.384744167328	0.22927	T	0.238032	0.60585	T	-0.152089	0.27985	T	0.00290044	0.70524	D	0.117295421700762	0.14162	T	0.743826	0.36376	T	0.88657	0.90215	0.8498335	0.91493	0.88657	0.90216	0.8498335	0.91493	-4.73	0.33765	T	.	.	0.321	0.54587	B	.	.	4.080003	0.60688	24.2	0.99798327215906912	0.88372	0.60328	0.31164	D	AEFDBCI	0.299734	0.40871	N	0.483256891235457	0.66114	4.908245	0.466649020748431	0.65792	4.868908	0.999985816397575	0.51787	0.554377	0.28877	0	0.550933	0.16991	0	0.536957	0.11973	0	0.567892	0.33627	0	.	.	5.38	5.38	0.77279	4.224000	0.58391	4.863000	0.45489	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	14.503	0.67319	924	0.18029	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1076.46	33	chr17	35127179	.	G	T	1076.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.342;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=0.748;SOR=0.788	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,111,1222	6	0	1	0
chr17	35422761	35422761	C	T	exonic	SLFN12	.	nonsynonymous SNV	SLFN12:NM_001289009:exon2:c.G268A:p.V90I,SLFN12:NM_018042:exon2:c.G268A:p.V90I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00952362786528	.	.	8.244e-06	0	8.637e-05	0	0	0	0	0	6.5e-06	1	154602	rs764941956	4.789e-06	4.789e-06	5.445e-06	4.126e-06	2.237e-05	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	2.237e-05	0	0	0	0	5.396e-06	0	0	6.573e-06	6.568e-06	1.285e-05	0	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.336	0.37966	T	0.094	0.39645	T	0.9	0.49598	P	0.286	0.40541	B	.	.	.	.	1	0.08975	N	2.28	0.64929	M	3.84	0.22678	T	-0.24	0.15178	N	0.09	0.06854	-1.0396	0.17434	T	0.036	0.15683	T	9	0.109140426	0.20347	T	0.009524	0.24924	T	0.026	0.05648	0.36	0.36385	0.167679373172	0.16340	0.022376581441498455	0.02189	0.168893101428	0.19044	0.487222731113	0.37054	T	0.005115	0.14127	T	-0.317655	0.07092	T	-0.611201	0.11887	T	0.09362736339952	0.11642	T	0.717028	0.32946	T	0.030834725	0.02815	0.03515549	0.02715	0.030834725	0.02815	0.03515549	0.02715	-3.993	0.23699	T	.	.	0.110	0.21541	B	.;.;.;.	.;.;.;.	0.475545	0.08450	5.209	0.98015761662962775	0.37589	0.02015	0.06057	N	AEFGBI	0.038362	0.05417	N	-0.699722239598615	0.16030	0.8131404	-0.92070899883072	0.11606	0.5922909	4.10261875472659E-4	0.06860	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.03	-0.587	0.11104	-0.608000	0.05737	-10.594000	0.00685	0.375000	0.20354	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.2193:0.4316:0.2141:0.135	1.460	0.02248	742	0.52873	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1450.44	98	chr17	35422761	.	C	T	1450.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.507;DP=494;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=-0.581;SOR=0.624	GT:AD:DP:GQ:PL	0/0:109,0:109:99:0,120,1800	6	0	1	0
chr17	35479888	35479888	C	A	exonic	SLFN12L	.	nonsynonymous SNV	SLFN12L:NM_001195790:exon2:c.G322T:p.V108F,SLFN12L:NM_001363830:exon3:c.G409T:p.V137F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.0101657904307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.742e-06	2.736e-06	4.091e-06	1.378e-06	3.602e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.472	0.15984	T	0.727	0.05221	T	0.997	0.70673	D	0.994	0.82059	D	.	.	.	.	1	0.08975	N	1.61	0.41143	L	3.83	0.03702	T	-0.69	0.19720	N	0.275	0.31140	-0.9373	0.43041	T	0.018	0.07470	T	9	0.16212139	0.30392	T	0.010166	0.26390	T	0.060	0.17295	0.341	0.33302	0.0551355673512	0.04727	0.15447611087698823	0.15368	0.200760539975	0.22472	0.525263726711	0.42368	T	0.035533	0.23754	T	-0.253723	0.13645	T	-0.602232	0.12624	T	0.263355791568756	0.23461	T	0.533147	0.17760	T	0.04171136	0.06192	0.044870324	0.05910	0.04171136	0.06191	0.044870324	0.05910	-3.344	0.14922	T	.	.	0.314	0.54041	B	.;.;.	.;.;.	0.387719	0.07593	4.253	0.61540266934543397	0.06735	0.02457	0.06906	N	AEFBI	0.041605	0.06346	N	-0.457055253425503	0.23502	1.26252	-0.669180731498794	0.17732	0.9442258	0.0238817940394959	0.13540	0.475973	0.10046	0	0.601575	0.49859	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	1.98	1.98	0.25351	-0.734000	0.04997	-6.709000	0.01326	-1.555000	0.00957	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:1.0:0.0:0.0	7.350	0.25860	240	0.90628	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1240.46	110	chr17	35479888	.	C	A	1240.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.23;DP=412;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-0.238;SOR=0.748	GT:AD:DP:GQ:PL	0/0:73,0:73:99:0,120,1800	6	0	1	0
chr17	35745554	35745554	C	T	exonic	GAS2L2	.	nonsynonymous SNV	GAS2L2:NM_139285:exon6:c.G1943A:p.G648E	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00918094189006	.	0.000199681	0.0001	0	0	0	0	0.0002	0	0.0005	0.0001229	19	154602	rs587736415	4.996e-05	5.062e-05	3.268e-05	6.74e-05	0.0005	4.06e-05	3.735e-05	0.0004	0.0003	0	0	0	0	1.887e-05	0	2.518e-05	4.969e-05	0.0005	4.597e-05	4.593e-05	3.854e-05	5.373e-05	0.0008	2.108e-05	1.526e-05	0.0003	0.0002	2.406e-05	0	0	0	0	0	0	2.941e-05	0	0.0008	.	.	.	0.012	0.63918	D	0.906	0.49993	P	0.444	0.45865	B	0.004183	0.34013	N	0.195347	0.826206	0.34849	D	0.975	0.24501	L	1.73	0.26588	T	.	.	.	0.439	0.55106	-1.0053	0.28368	T	0.055	0.23110	T	10	0.09854373	0.17825	T	0.009181	0.24130	T	.	.	0.351	0.34922	0.482721949076	0.47902	0.41924712212233234	0.41840	.	.	0.427368789911	0.28849	T	0.013	0.11390	T	-0.462867	0.00943	T	-0.574692	0.15021	T	0.353060781955719	0.27138	T	0.759024	0.38317	T	0.15588789	0.35208	0.2908633	0.55110	0.15588789	0.35208	0.2908633	0.55109	-3.6	0.17857	T	.	.	0.166	0.36673	B	.;.	.;.	2.720910	0.35591	19.94	0.99412583450366077	0.63358	0.52985	0.29262	D	AEFDBCI	0.179905	0.30720	N	-0.00787130100942963	0.41498	2.483279	-0.0207716814995566	0.38778	2.289551	3.20607904848468E-4	0.06498	0.549168	0.22868	0	0.627178	0.54094	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.75	2.7	0.31007	0.164000	0.16359	1.675000	0.27978	0.549000	0.26987	0.011000	0.18532	0.809000	0.27020	0.641000	0.32449	0.0:0.6815:0.3185:0.0	12.542	0.55527	461	0.78683	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2297.63	35	chr17	35745554	.	C	T	2297.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.12;DP=364;ExcessHet=0;FS=1.94;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-2.971;SOR=0.532	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	6	0	1	0
chr17	35767806	35767806	-	G	exonic	MMP28	.	frameshift insertion	MMP28:NM_024302:exon7:c.1113dupC:p.N372Qfs*3,MMP28:NM_032950:exon7:c.1113dupC:p.N372Qfs*3	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.983e-05	0	0	0	0	3.685e-05	0	0	.	.	.	rs765360234	2.755e-06	8.209e-06	1.369e-06	4.16e-06	0.0002	6.5e-07	4.4e-07	.	.	0	0	0	0	1.903e-05	0.0002	9.03e-07	1.664e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1442.45	33	chr17	35767806	.	T	TG	1442.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.17;DP=294;ExcessHet=0;FS=2.387;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.358;SOR=0.956	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1173	6	0	1	0
chr17	35844823	35844823	-	GGAGGAGATCGAGGAGGTTAT	exonic	TAF15	.	nonframeshift insertion	TAF15:NM_003487:exon15:c.1515_1516insGGAGGAGATCGAGGAGGTTAT:p.R523_S524insGGYGGDR,TAF15:NM_139215:exon15:c.1524_1525insGGAGGAGATCGAGGAGGTTAT:p.R526_S527insGGYGGDR	Chondrosarcoma, extraskeletal myxoid	0	184	38	2	2	44	0.102439	.	.	.	3215116	TAF15-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0.0004	0	0.0002	0.0011	0	0.00011	17	154602	rs750774088	0.0001	0.0001	9.416e-05	0.0001	0.0005	8.87e-05	8.354e-05	0.0001	8.547e-05	2.991e-05	2.246e-05	0	0.0001	0.0001	0.0005	0.0001	0.0002	0	4.859e-05	4.722e-05	5.399e-05	4.288e-05	0.0002	2.217e-05	1.596e-05	2.902e-05	1.899e-05	2.629e-05	0	0	0	0.0002	0	0	7.541e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1115.63	37	chr17	35844823	.	C	CGGAGGAGATCGAGGAGGTTAT	1115.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.88;DP=283;ExcessHet=0.3476;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-1.312;SOR=0.698	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,105,1575	6	0	1	0
chr17	35981408	35981408	C	T	exonic	CCL16	.	nonsynonymous SNV	CCL16:NM_004590:exon1:c.G13A:p.E5K	.	.	.	.	.	.	.	.	.	.	.	2674420	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00204031841418	7.7e-05	0.000399361	3.124e-05	0	0	0.0001	0	3.698e-05	0	0	3.23e-05	5	154602	rs142115594	1.987e-05	1.984e-05	1.499e-05	2.48e-05	0.0002	1.394e-05	1.205e-05	2.377e-05	1.259e-05	8.97e-05	4.497e-05	0	2.521e-05	0	0.0002	1.71e-05	0	3.506e-05	3.285e-05	3.281e-05	5.142e-05	1.344e-05	6.545e-05	1.261e-05	7.98e-06	7.98e-06	2.99e-06	4.816e-05	0	6.545e-05	0	0	0	0	2.94e-05	0	0	.	.	.	0.888	0.03152	T	0.0	0.02946	B	0.0	0.01387	B	0.801319	0.06771	N	1.144270	1	0.08975	N	-0.69	0.01958	N	.	.	.	.	.	.	0.145	0.14622	-0.8961	0.48380	T	0.005	0.01688	T	10	0.021828026	0.00531	T	0.00204	0.03721	T	.	.	.	.	0.270447802918	0.26645	0.4791215831687993	0.47832	.	.	0.256725430489	0.04509	T	0.005839	0.05287	T	-0.422759	0.01643	T	-0.675912	0.07235	T	0.0203441396368754	0.00734	T	0.429357	0.11628	T	0.026254125	0.01660	0.043077305	0.05276	0.026254125	0.01660	0.043077305	0.05276	-3.541	0.17010	T	.	.	0.102	0.17869	B	.	.	-0.624313	0.01506	0.095	0.85671038806959265	0.16039	0.05660	0.11574	N	AEFDBHCI	0.108792	0.21631	N	-1.50615180206219	0.01809	0.07928671	-1.55784393577504	0.01922	0.08770615	0.999999963173566	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	3.5	-3.98	0.03810	-0.655000	0.05447	-8.595000	0.00944	-0.191000	0.09375	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3596:0.0:0.6404	9.003	0.35256	389	0.83303	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	903.44	66	chr17	35981408	.	C	T	903.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.591;DP=253;ExcessHet=0;FS=2.09;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=0.946;SOR=0.438	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1155	6	0	1	0
chr17	36171926	36171926	G	C	exonic	TBC1D3B;TBC1D3D;TBC1D3G;TBC1D3H;TBC1D3I;TBC1D3L	.	nonsynonymous SNV	TBC1D3L:NM_001369500:exon6:c.C426G:p.I142M,TBC1D3B:NM_001001417:exon7:c.C426G:p.I142M,TBC1D3H:NM_001123392:exon7:c.C426G:p.I142M,TBC1D3L:NM_001291459:exon7:c.C426G:p.I142M,TBC1D3G:NM_001291462:exon7:c.C426G:p.I142M,TBC1D3I:NM_001291463:exon7:c.C426G:p.I142M,TBC1D3D:NM_001291465:exon7:c.C426G:p.I142M	.	429	1083	8	2	0	12	0.00550964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	.	.	0.00139776	0.0008	0	0	0	0	0	0	0.0120	5.82e-05	9	154602	rs199878721	0.0003	0.0003	0.0003	0.0004	0.0032	0.0003	0.0003	0.0029	0.0028	2.989e-05	4.477e-05	0.0018	0	0	0.0013	5.957e-05	0.0008	0.0032	0.0003	0.0003	0.0002	0.0004	0.0053	0.0002	0.0002	0.0037	0.0031	0	0	0	0.0023	0	0	0	8.98e-05	0.0005	0.0053	.	.	.	0.002	0.79402	D	0.961	0.55431	D	0.873	0.61978	P	0.000625	0.42799	U	0.193757	0.989412	0.24298	N	2.365	0.68172	M	.	.	.	.	.	.	0.339	0.38027	-0.9789	0.35254	T	0.153	0.48188	T	8	0.006297171	0.00142	T	.	.	.	.	.	0.49	0.57573	0.043077524339	0.03247	0.03892170817123334	0.03838	.	.	0.737821936607	0.72652	T	0.098154	0.40169	T	-0.298517	0.08799	T	-0.666575	0.07830	T	0.0781075113407463	0.09743	T	0.776522	0.40874	T	0.10591566	0.25044	0.08650662	0.20045	0.10591566	0.25044	0.08650662	0.20045	-7.079	0.54609	T	.	.	0.161	0.35540	B	.	.	1.323790	0.17281	13.07	0.98112361103443824	0.38367	0.11735	0.16828	N	AEFI	0.042865	0.06705	N	-0.288668334031737	0.29585	1.64196	-0.586235652965016	0.19851	1.066956	1.0951368526546E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	0.218000	0.17407	-3.700000	0.02596	-0.709000	0.03961	0.362000	0.25859	0.000000	0.08366	0.001000	0.02609	.	.	.	882	0.29131	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	853.49	37	chr17	36171926	.	G	C	853.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.23;DP=493;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=38.94;MQRankSum=-3.561;QD=2.78;ReadPosRankSum=1.63;SOR=0.711	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	6	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K,ACACA:NM_198838:exon13:c.G1471A:p.E491K,ACACA:NM_198834:exon14:c.G1816A:p.E606K,ACACA:NM_198836:exon14:c.G1705A:p.E569K,ACACA:NM_198839:exon18:c.G1705A:p.E569K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	2132.02	55	chr17	37257713	.	C	T	2132.02	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.609;DP=417;ExcessHet=8.2628;FS=426.457;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=5.32;ReadPosRankSum=0.389;SOR=10.646	GT:AD:DP:GQ:PL	0/1:42,48:90:99:508,0,457	1	0	6	0
chr17	37553619	37553619	T	C	exonic	SYNRG	.	nonsynonymous SNV	SYNRG:NM_001163547:exon12:c.A1621G:p.I541V,SYNRG:NM_001163544:exon13:c.A1870G:p.I624V,SYNRG:NM_001163545:exon13:c.A1867G:p.I623V,SYNRG:NM_001163546:exon13:c.A1870G:p.I624V,SYNRG:NM_080550:exon13:c.A1870G:p.I624V,SYNRG:NM_198882:exon13:c.A1870G:p.I624V,SYNRG:NM_007247:exon14:c.A2104G:p.I702V	.	435	1079	8	0	0	8	0.00369344	.	.	.	2247747	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.064	0.00174645616462	0.0004	0.000399361	0.0004	9.692e-05	0.0010	0	0	0.0004	0.0011	0.0004	0.0003428	53	154602	rs139017068	0.0003	0.0003	0.0003	0.0003	0.0014	0.0003	0.0003	0.0007	0.0007	2.988e-05	0.0010	0.0036	0	0	0.0014	0.0002	0.0007	0.0006	0.0003	0.0003	0.0003	0.0004	0.0016	0.0003	0.0002	0.0011	0.0010	4.814e-05	0	0.0016	0.0037	0	0	0	0.0002	0	0.0004	.	.	.	0.957	0.10501	T	0.002	0.11197	B	0.002	0.08700	B	0.238646	0.15760	N	0.664334	1	0.08975	N	0.77	0.19370	N	.	.	.	.	.	.	0.051	0.03726	-1.0052	0.28397	T	0.053	0.22384	T	10	0.0031022727	0.00051	T	0.001746	0.02934	T	.	.	.	.	0.0675242888579	0.06100	0.0684756150646634	0.06785	.	.	0.252966672182	0.04086	T	0.006878	0.06306	T	-0.580064	0.00192	T	-0.656439	0.08509	T	0.0124214301810348	0.00204	T	.	.	.	0.01927723	0.00455	0.060873587	0.11664	0.01927723	0.00455	0.060873587	0.11664	-2.208	0.04079	T	.	.	0.061	0.02399	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.925334	0.00884	0.032	0.46206734690816975	0.03684	0.03815	0.09152	N	AEFDBI	0.056642	0.10487	N	-1.09930516950097	0.06657	0.3070414	-1.05821234926909	0.08537	0.4201962	0.880546553119356	0.25611	0.706548	0.73137	0	0.724815	0.89359	0	0.566861	0.19136	0	0.714379	0.83352	0	.	.	6.17	-3.23	0.04794	-1.189000	0.03170	-8.883000	0.00899	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	1.000000	0.97212	0.0:0.6254:0.0:0.3746	13.998	0.63929	48	0.97687	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	544.44	65	chr17	37553619	.	T	C	544.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.21;DP=254;ExcessHet=0;FS=0.985;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=1.23;SOR=0.487	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1293	6	0	1	0
chr17	37632285	37632285	C	T	exonic	DDX52	.	nonsynonymous SNV	DDX52:NM_007010:exon4:c.G431A:p.R144Q,DDX52:NM_001291476:exon5:c.G107A:p.R36Q	.	437	1083	2	0	0	2	0.000922509	.	.	.	2330972	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.217	0.0110498522596	.	.	.	.	.	.	.	.	.	.	.	.	.	rs764659877	7.525e-06	7.524e-06	8.167e-06	6.876e-06	0.0002	4.04e-06	2.95e-06	9.9e-06	3.7e-06	5.975e-05	0	0	2.52e-05	0	0.0002	5.396e-06	1.656e-05	0	6.588e-06	6.572e-06	0	1.349e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	0.005	0.72224	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	.	.	.	.	.	.	.	.	.	0.87	0.86725	-0.9140	0.46351	T	0.130	0.43927	T	10	0.76930785	0.76953	D	0.01105	0.28270	T	.	.	0.5	0.59147	0.588979369553	0.58573	0.6107710063428559	0.61009	.	.	0.428804725409	0.29045	T	.	.	.	0.0219378	0.54642	T	-0.0371361	0.67894	D	0.987174928188324	0.77723	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.446	0.61983	A	.	.	5.516339	0.91734	32	0.99951340477814166	0.99944	0.99154	0.92024	D	AEFBI	0.544415	0.55935	D	0.811532322044415	0.86824	9.010406	0.765726946365832	0.87328	9.183912	0.962360393168785	0.28618	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.55	4.54	0.55220	5.717000	0.68096	5.905000	0.50941	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.1435:0.8565:0.0:0.0	14.908	0.70381	47	0.97709	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	65.22	33	chr17	37632285	.	C	T	65.22	.	AC=2;AF=0.143;AN=14;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=32.61;SOR=2.303	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1400	6	1	0	0
chr17	38299392	38299392	C	T	exonic	MRPL45	.	nonsynonymous SNV	MRPL45:NM_001278279:exon3:c.C286T:p.R96C,MRPL45:NM_032351:exon3:c.C286T:p.R96C	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.383	0.0113553758052	.	.	0.0001	0	0	0	0.0008	0.0001	0	6.056e-05	8.41e-05	13	154602	rs769411482	4.248e-05	4.241e-05	3.681e-05	4.82e-05	0.0003	3.382e-05	3.069e-05	6.094e-05	2.522e-05	2.999e-05	0	0	5.044e-05	0.0007	0.0003	1.17e-05	9.947e-05	1.17e-05	7.237e-05	7.225e-05	6.429e-05	8.083e-05	5.881e-05	3.976e-05	3.131e-05	1.972e-05	1.125e-05	0	0	0	0	0	0.0007	0	5.881e-05	0	0	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	0.000000	0.84330	D	0.053401	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.788	0.79986	-0.6554	0.62478	T	0.209	0.56798	T	10	0.5656525	0.65035	D	0.011355	0.28886	T	.	.	.	.	0.718689539657	0.71621	0.7855464482808282	0.78505	.	.	0.655756235123	0.60804	T	.	.	.	0.180926	0.72127	D	0.19124	0.82640	D	0.705269396305084	0.40970	D	0.878612	0.66491	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.270	0.50398	B	.;.	.;.	5.488302	0.91455	32	0.99918644668400824	0.98586	0.88321	0.48196	D	AEFI	0.563332	0.57056	D	0.436759152799787	0.63457	4.579651	0.324948935373937	0.57011	3.865427	0.958812568697583	0.28386	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.45	4.45	0.53365	3.459000	0.52786	7.306000	0.58107	0.495000	0.22486	0.998000	0.41325	1.000000	0.68203	0.914000	0.44937	0.0:1.0:0.0:0.0	15.034	0.71393	111	0.95468	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	696.63	33	chr17	38299392	.	C	T	696.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.197;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.12;MQRankSum=0.054;QD=13.14;ReadPosRankSum=-0.746;SOR=0.668	GT:AD:DP:GQ:PL	0/1:21,32:53:99:707,0,472	6	0	1	0
chr17	38326650	38326650	C	T	exonic	GPR179	.	nonsynonymous SNV	GPR179:NM_001004334:exon11:c.G6919A:p.E2307K	Night blindness, congenital stationary (complete), 1E, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1104756	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.164	0.0366991676906	.	0.000998403	0.0003	0	0	0	0	0	0.0011	0.0022	0.0002781	43	154602	rs533863066	0.0001	0.0001	9.665e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	0	0	0	0	0	0	8.993e-07	0.0002	0.0022	9.192e-05	9.186e-05	2.57e-05	0.0002	0.0029	5.523e-05	4.361e-05	0.0018	0.0014	0	0	0	0	0	0	0	0	0	0.0029	.	.	.	0.02	0.58613	D	.	.	.	.	.	.	0.083503	0.20749	N	0.348186	0.902442	0.36205	D	.	.	.	.	.	.	.	.	.	0.362	0.40364	-0.4465	0.70515	T	0.235	0.60185	T	10	0.0077834427	0.00177	T	0.036699	0.57155	D	.	.	0.32	0.29902	0.208000267992	0.20380	0.17292205349369355	0.17212	.	.	0.377716362476	0.21931	T	.	.	.	-0.316683	0.07173	T	-0.233837	0.51400	T	0.194680407559654	0.20117	T	0.715628	0.32820	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.28464	B	.;.	.;.	3.484405	0.48678	22.7	0.99751410341837432	0.84305	0.57271	0.30333	D	AEFGBCI	0.202900	0.32945	N	0.175806408512568	0.50039	3.197881	0.0984832874510869	0.44473	2.728369	0.999999996634969	0.74766	0.679555	0.55442	0	0.547309	0.14657	0	0.600882	0.32295	2	0.613276	0.41899	0	.	.	4.83	4.83	0.61880	1.267000	0.32653	2.565000	0.33334	0.549000	0.26987	0.175000	0.24000	0.997000	0.33255	0.756000	0.36000	0.0:1.0:0.0:0.0	14.959	0.70788	121	0.95159	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	3671.44	36	chr17	38326650	.	C	T	3671.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.282;DP=503;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=0.788;SOR=0.72	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1250	6	0	1	0
chr17	38477643	38477643	C	G	exonic	ARHGAP23	.	nonsynonymous SNV	ARHGAP23:NM_001199417:exon12:c.C2183G:p.S728W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.905007503137	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1220306737	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.635e-06	6.568e-06	1.297e-05	0	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	.	.	.	0.165	0.32355	T	0.989	0.62824	D	0.915	0.65091	D	0.050278	0.23087	N	0.397446	0.990994	0.41283	D	1.04	0.26193	L	.	.	.	.	.	.	0.529	0.59478	-0.3622	0.73198	T	0.451	0.78515	T	10	0.63322717	0.68636	D	0.905008	0.99288	D	.	.	0.462	0.53079	0.391313282164	0.38746	0.5458804597641633	0.54514	.	.	0.930630743504	0.99023	D	0.008699	0.07968	T	-0.0469327	0.44911	T	-0.305192	0.44173	T	0.644633591175079	0.38233	D	.	.	.	0.15751185	0.35487	0.117307626	0.28318	0.15751185	0.35487	0.117307626	0.28317	-6.523	0.51061	T	.	.	0.183	0.39630	B	.;.	.;.	3.340312	0.46023	22.2	0.85829670751380738	0.16139	0.69501	0.34213	D	AEFBI	0.314061	0.41903	N	-0.29503248932701	0.29339	1.62615	-0.419387043098007	0.24428	1.337626	0.00437759819359528	0.10521	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	3.4	-0.012	0.13314	0.763000	0.26183	0.706000	0.20886	0.495000	0.22486	0.997000	0.40164	0.999000	0.35428	0.823000	0.38780	0.3344:0.2948:0.1639:0.2069	0.508	0.00551	125	0.94984	Pleckstrin homology domain|Pleckstrin homology domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	346.28	9	chr17	38477643	.	C	G	346.28	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.085;DP=156;ExcessHet=0;FS=6.68;MLEAC=1;MLEAF=0.083;MQ=59.28;MQRankSum=1.1;QD=11.94;ReadPosRankSum=0.721;SOR=0.103	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1250	5	0	1	1
chr17	38962857	38962857	T	C	exonic	FBXO47	.	nonsynonymous SNV	FBXO47:NM_001008777:exon2:c.A169G:p.K57E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00826933114303	.	.	5.966e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs766011981	4.183e-05	4.173e-05	9.555e-06	7.442e-05	0.0007	3.319e-05	3.008e-05	0.0005	0.0005	0	0	0	0	0	0.0002	2.702e-06	0	0.0007	1.973e-05	1.971e-05	0	4.04e-05	0.0006	5.25e-06	2.46e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.980149	0.08099	N	0.992247	0.99846	0.22137	N	-0.695	0.01866	N	0.58	0.54149	T	-0.08	0.08187	N	0.06	0.03175	-0.9994	0.30087	T	0.054	0.23034	T	10	0.024658173	0.00686	T	0.008269	0.21903	T	0.132	0.35948	0.317	0.29419	0.263612267334	0.25957	0.342937317032872	0.34206	0.0958678412206	0.10824	0.258754968643	0.04743	T	0.004664	0.04071	T	-0.47096	0.00838	T	-0.590335	0.13636	T	0.0606497908182801	0.07271	T	0.380662	0.09189	T	0.08032125	0.18397	0.10251394	0.24573	0.08032125	0.18397	0.10251394	0.24573	-3.372	0.14682	T	.	.	0.084	0.09578	B	.	.	2.366015	0.30352	18.41	0.32622372767837332	0.01900	0.61210	0.31418	D	AEI	0.034976	0.04426	N	-0.646777037644671	0.17553	0.9042783	-0.406876885757993	0.24795	1.359806	7.9960803085814E-4	0.07826	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.14	4.02	0.45968	1.012000	0.29527	2.783000	0.34747	0.665000	0.62972	0.927000	0.32177	0.999000	0.35428	0.997000	0.79791	0.0:0.1514:0.0:0.8486	6.488	0.21298	381	0.83684	F-box domain|F-box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	165.83	17	chr17	38962857	.	T	C	165.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.287;DP=115;ExcessHet=0;FS=1.719;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.9;ReadPosRankSum=-0.643;SOR=0.368	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,918	6	0	1	0
chr17	39408665	39408667	AAG	-	exonic	MED1	.	nonframeshift deletion	MED1:NM_004774:exon17:c.3554_3556del:p.S1185del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0002	8.637e-05	0.0001	0	0	0	0.0007	0.0001035	16	154602	rs754513286	7.182e-05	7.182e-05	1.906e-05	0.0001	0.0011	6.047e-05	5.595e-05	0.0010	0.0009	2.987e-05	0	0	2.519e-05	0	0	1.799e-06	4.967e-05	0.0011	8.537e-05	8.53e-05	5.14e-05	0.0001	0.0019	4.955e-05	3.961e-05	0.0010	0.0007	7.22e-05	0	0	0	0	0	0	1.47e-05	0	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3657.4	35	chr17	39408664	.	AAAG	A	3657.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.073;DP=398;ExcessHet=0;FS=2.357;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.25;ReadPosRankSum=-2.052;SOR=0.88	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1107	6	0	1	0
chr17	39424658	39424658	T	C	exonic	MED1	.	nonsynonymous SNV	MED1:NM_004774:exon11:c.A820G:p.I274V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.017250199539	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.884e-07	6.841e-07	0	1.384e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.29029	T	0.132	0.92824	T	0.77	0.55692	P	0.295	0.63417	B	.	.	.	.	0.999414	0.46970	D	1.565	0.39561	L	1.26	0.36330	T	-0.65	0.20576	N	0.374	0.43610	-1.0460	0.15534	T	0.122	0.42378	T	9	0.32319635	0.49660	T	0.01725	0.38871	T	0.085	0.24743	0.453	0.51612	0.472011534587	0.46827	0.4382436582389497	0.43741	0.602793756406	0.55280	0.704655170441	0.67817	T	0.12115	0.44390	T	-0.152506	0.27920	T	-0.456841	0.26943	T	0.662570970099326	0.39009	D	0.846715	0.52677	T	0.062516496	0.13064	0.08939838	0.20903	0.062516496	0.13064	0.08939838	0.20902	-2.755	0.07946	T	.	.	0.333	0.55417	B	.;.	.;.	3.390375	0.46937	22.4	0.99889571068460226	0.96359	0.97557	0.75530	D	AEBI	0.528778	0.55016	D	0.268223601221027	0.54544	3.619855	0.322920752390628	0.56888	3.853057	0.258835146220981	0.18766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.46	4.38	0.52019	5.711000	0.68052	5.104000	0.47459	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0752:0.0:0.9248	10.837	0.45897	440	0.80101	.;Mediator complex, subunit Med1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1031.49	78	chr17	39424658	.	T	C	1031.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.06;DP=269;ExcessHet=0;FS=7.672;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=-1.296;SOR=0.577	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1324	6	0	1	0
chr17	39531138	39531138	A	G	exonic	CDK12	.	nonsynonymous SNV	CDK12:NM_015083:exon14:c.A4268G:p.H1423R,CDK12:NM_016507:exon14:c.A4295G:p.H1432R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0209922850152	.	.	9.026e-06	0	0	0	0	1.564e-05	0	0	6.5e-06	1	154602	rs770201826	1.437e-06	1.368e-06	1.415e-06	1.459e-06	1.853e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.853e-06	0	0	6.57e-06	6.566e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.102	0.34982	T	0.485	0.11725	T	0.982	0.60036	D	0.662	0.52860	P	0.000107	0.50451	D	0.000000	0.675129	0.30329	N	.	.	.	-0.36	0.68754	T	-1.82	0.42763	N	0.159	0.31027	-0.6483	0.62788	T	0.206	0.56417	T	10	0.25347626	0.42715	T	0.020992	0.43686	T	0.208	0.49714	0.476	0.55342	0.451585352066	0.44779	0.415948601321474	0.41510	0.486747575308	0.47525	0.675791859627	0.63665	T	0.127923	0.45525	T	-0.0782269	0.40002	T	-0.350144	0.39189	T	0.521994352340698	0.33439	D	0.623938	0.24053	T	0.14303607	0.32892	0.15133989	0.35654	0.14303607	0.32892	0.15133989	0.35653	-2.626	0.06703	T	.	.	0.101	0.17360	B	.;.	.;.	3.491330	0.48798	22.7	0.7973399157833746	0.12876	0.98125	0.79812	D	AEFDBI	0.446605	0.50260	N	0.25131505965258	0.53704	3.53816	0.321704560875158	0.56817	3.845722	0.993002009949497	0.33049	0.722319	0.85440	0	0.702456	0.74545	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	5.54	4.46	0.53567	3.692000	0.54460	7.875000	0.72177	0.756000	0.94297	0.999000	0.42656	1.000000	0.68203	1.000000	0.97212	0.9289:0.0:0.0711:0.0	11.446	0.49365	313	0.87327	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1225.49	37	chr17	39531138	.	A	G	1225.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.809;DP=277;ExcessHet=0;FS=6.562;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=2.11;SOR=1.083	GT:AD:DP:GQ:PL	0/1:45,50:95:99:1236,0,1241	6	0	1	0
chr17	39662879	39662879	C	T	exonic	STARD3	.	nonsynonymous SNV	STARD3:NM_001165938:exon14:c.C1255T:p.R419C,STARD3:NM_001165937:exon15:c.C1309T:p.R437C,STARD3:NM_006804:exon15:c.C1309T:p.R437C	.	416	1104	2	0	0	2	0.000904977	.	.	.	2359249	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.682	0.236230634806	0.0003	0.000199681	0.0003	9.669e-05	0.0002	0	0	0.0005	0.0011	6.177e-05	0.0002781	43	154602	rs151032154	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0009	0.0007	0.0003	0.0002	0	0	3.777e-05	0.0017	0.0002	0.0004	0.0002	0.0001	0.0001	0.0001	0.0001	0.0003	8.158e-05	6.716e-05	0.0002	0.0001	2.404e-05	0	0	0	0	0	0	0.0003	0	0	0.038	0.78490	D	0.002	0.92824	D	0.999	0.77913	D	0.936	0.67150	D	0.000020	0.62929	D	0.113059	1	0.81001	D	2.98	0.85499	M	-1.25	0.79072	T	-3.44	0.76822	D	0.695	0.70000	0.359	0.88482	D	0.630	0.87021	D	10	0.6281153	0.68360	D	0.236231	0.88490	D	0.682	0.88348	.	.	0.93766743337	0.93701	0.6844036259354078	0.68379	1.34388094395	0.83920	0.625369429588	0.56489	T	0.479869	0.80910	T	0.0430026	0.57437	T	0.168932	0.81347	D	0.240044757723808	0.22421	T	0.959604	0.84807	D	0.43193397	0.62878	0.23261054	0.48426	0.43193397	0.62879	0.23261054	0.48425	-9.303	0.71437	D	.	.	0.675	0.73309	P	.;.;.	.;.;.	5.987315	0.94269	34	0.9991967213201034	0.98654	0.94904	0.62734	D	AEFBCI	0.608226	0.59789	D	0.705140474828066	0.79970	7.191583	0.655859153591804	0.79046	7.000712	0.999999999441459	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.26897	0.05253	2	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	5.596000	0.67261	7.670000	0.64725	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.809000	0.38129	0.1538:0.8462:0.0:0.0	13.757	0.62428	620	0.66037	START domain|START domain|START domain|StAR-related lipid transfer protein 3, C-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.006793	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	938.44	40	chr17	39662879	.	C	T	938.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.286;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.745;SOR=0.783	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1233	6	0	1	0
chr17	39965842	39965842	G	A	exonic	GSDMA	.	nonsynonymous SNV	GSDMA:NM_178171:exon2:c.G155A:p.R52Q	.	.	.	.	.	.	.	.	.	.	.	2719752	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.235	0.0034169723116	8.1e-05	.	8.598e-05	0	0	0	0	0.0001	0	0.0001	1.94e-05	3	154602	rs199741961	1.336e-05	1.779e-05	1.253e-05	1.421e-05	0.0001	8.55e-06	6.89e-06	5.716e-05	4.273e-05	6.173e-05	2.622e-05	0	0	0	0	5.493e-06	1.695e-05	0.0001	3.945e-05	3.94e-05	2.571e-05	5.385e-05	0.0001	1.716e-05	1.13e-05	3.251e-05	1.916e-05	9.659e-05	0	0.0001	0	0	0	0	0	0	0	0.075	0.34444	T	0.046	0.49120	D	0.992	0.64738	D	0.763	0.56556	P	0.072834	0.21385	N	0.442305	0.746298	0.33878	D	1.525	0.38595	L	1.78	0.25678	T	-1.84	0.43149	N	0.322	0.36254	-0.9239	0.45013	T	0.108	0.39197	T	10	0.27806175	0.45375	T	0.003417	0.07694	T	0.235	0.53788	.	.	0.201204373187	0.19734	0.2706319221998247	0.26976	0.119740202869	0.13491	0.521137416363	0.41786	T	0.009851	0.18245	T	-0.0789022	0.39893	T	-0.351114	0.39077	T	0.346391290426254	0.26877	T	0.863414	0.55914	D	0.12819245	0.29977	0.13129821	0.31530	0.12819245	0.29977	0.13129821	0.31529	-4.4	0.29557	T	.	.	0.118	0.24088	B	.;.;.	.;.;.	4.197646	0.63317	24.6	0.99518807268482345	0.69100	0.78990	0.39060	D	AEFBI	0.229493	0.35301	N	0.485838574545136	0.66263	4.927572	0.496248937282563	0.67739	5.124786	0.735595264565939	0.23126	0.500041	0.20204	0	0.59043	0.45803	0	0.624306	0.44879	0	0.542086	0.14980	0	.	.	5.51	5.51	0.81769	3.474000	0.52893	9.635000	0.81135	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	14.905	0.70352	318	0.87072	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	636.44	46	chr17	39965842	.	G	A	636.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.3;DP=268;ExcessHet=0;FS=6.632;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-0.484;SOR=1.765	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1409	6	0	1	0
chr17	39974278	39974278	G	A	exonic	GSDMA	.	nonsynonymous SNV	GSDMA:NM_178171:exon9:c.G757A:p.V253I	.	416	1094	12	0	0	12	0.00545455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00279396523765	0.0002	0.00119808	0.0014	0.0001	0.0002	0	0	0.0002	0.0015	0.0100	0.001022	158	154602	rs200722398	0.0006	0.0006	0.0004	0.0009	0.0083	0.0006	0.0006	0.0078	0.0076	0	9.113e-05	0	5.043e-05	0	0.0024	0.0001	0.0007	0.0083	0.0003	0.0003	0.0003	0.0003	0.0068	0.0002	0.0002	0.0050	0.0044	0	0.0011	0	0	0	0	0	0.0002	0.0005	0.0068	0.452	0.08943	T	0.732	0.05128	T	0.002	0.09854	B	0.001	0.04355	B	0.959492	0.08233	N	0.977537	1	0.08975	N	1.04	0.26193	L	1.99	0.21666	T	-0.11	0.08653	N	0.086	0.06322	-0.9674	0.37733	T	0.019	0.07939	T	10	0.0049937367	0.00107	T	0.002794	0.05810	T	0.038	0.09825	.	.	0.0297737177859	0.01360	0.09921580017986624	0.09852	0.0598782766333	0.06659	0.284895420074	0.08185	T	0.003831	0.03242	T	-0.732285	0.00023	T	-0.818538	0.01482	T	0.00673396509254671	0.00076	T	0.420158	0.11156	T	0.019484436	0.00480	0.021492226	0.00199	0.019484436	0.00479	0.021492226	0.00199	-3.811	0.20969	T	.	.	0.071	0.03925	B	.;.	.;.	0.804128	0.11749	8.324	0.19541576626061555	0.00664	0.06998	0.13024	N	AEFBI	0.034783	0.04367	N	-0.994334959763885	0.08724	0.4101539	-0.920376276963245	0.11614	0.5927452	0.935632730746567	0.27221	0.497415	0.19182	0	0.547309	0.14657	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	5.59	1.3	0.20778	0.990000	0.29242	1.034000	0.23503	0.676000	0.76740	0.513000	0.27056	0.000000	0.08366	0.012000	0.09680	0.2625:0.0:0.5816:0.1559	4.364	0.10651	274	0.89249	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003535	0.000000	0.002717	0.000000	0.000000	0.000000	0.003086	0.011364	0.07143	546.44	65	chr17	39974278	.	G	A	546.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.478;DP=255;ExcessHet=0;FS=2.24;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.41;ReadPosRankSum=0.121;SOR=0.415	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	6	0	1	0
chr17	40164128	40164128	C	T	exonic	CASC3	.	nonsynonymous SNV	CASC3:NM_007359:exon7:c.C1433T:p.P478L	.	433	1066	22	1	0	24	0.0111317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0078371103663	0.0005	0.000798722	0.0009	0.0006	0.0018	0	0	0.0009	0.0046	0.0008	0.0008926	138	154602	rs140375987	0.0009	0.0009	0.0008	0.0009	0.0401	0.0009	0.0008	0.0359	0.0342	0.0013	0.0027	0.0011	2.52e-05	5.827e-05	0.0401	0.0006	0.0022	0.0009	0.0009	0.0009	0.0009	0.0010	0.0023	0.0008	0.0008	0.0017	0.0015	0.0007	0	0.0023	0.0009	0	0	0.0340	0.0007	0.0066	0.0006	0.005	0.63226	D	0.049	0.48336	D	0.985	0.61118	D	0.493	0.47443	P	0.000416	0.44736	D	0.235442	0.999998	0.58761	D	1.67	0.42885	L	.	.	.	-0.66	0.19085	N	0.578	0.59986	-1.0268	0.21494	T	0.084	0.32729	T	9	0.019713819	0.00444	T	0.007837	0.20798	T	0.087	0.25287	.	.	0.232442253697	0.22838	0.2393387749667822	0.23847	0.579947014083	0.53851	0.479171782732	0.35943	T	0.03977	0.25301	T	-0.335218	0.05727	T	-0.259532	0.48871	T	0.0274194980544052	0.01605	T	0.925507	0.72634	D	0.11321392	0.26741	0.06890204	0.14448	0.11321392	0.26741	0.06890204	0.14447	-5.211	0.39054	T	.	.	0.098	0.16143	B	.	.	4.526741	0.71028	25.6	0.92941958910010425	0.22511	0.90570	0.51856	D	AEFBI	0.303224	0.41125	N	0.252908875417437	0.53783	3.545777	0.348133233150198	0.58395	4.009777	0.18512621597521	0.17926	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	2.543000	0.45411	5.912000	0.51036	0.599000	0.40250	0.991000	0.37257	0.999000	0.35428	0.976000	0.56436	0.1511:0.8489:0.0:0.0	14.083	0.64465	204	0.92044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.034240	0.040404	0.031250	0.105263	0.000000	0.025862	0.006098	0.000000	0.08333	340.27	27	chr17	40164128	.	C	T	340.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.92;DP=195;ExcessHet=0;FS=6.773;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=-1.424;SOR=2.303	GT:AD:DP:GQ:PL	0/0:33,0:33:84:0,84,1260	5	0	1	1
chr17	40181645	40181645	C	T	exonic	RAPGEFL1	.	nonsynonymous SNV	RAPGEFL1:NM_001303533:exon2:c.C97T:p.H33Y,RAPGEFL1:NM_001303534:exon2:c.C79T:p.H27Y,RAPGEFL1:NM_016339:exon2:c.C550T:p.H184Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.22295614665	.	.	0.0002	0	0	0	.	0	0	0.0003	1.29e-05	2	154602	rs753663656	1.635e-05	1.431e-05	7.921e-06	2.349e-05	0.0002	7.69e-06	5.57e-06	5.222e-05	3.668e-05	0	0	0	0	0	0.0002	0	3.267e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.91255	T	0.524	0.92824	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.81001	D	.	.	.	2.19	0.18724	T	-1.33	0.79316	N	0.756	0.75834	-1.1669	0.00601	T	0.090	0.34601	T	6	0.3291329	0.50172	T	0.222956	0.87879	D	0.199	0.48268	0.64	0.77687	0.236619781664	0.23270	0.7618322724908742	0.76131	.	.	.	.	.	0.098165	0.43279	T	-0.0978072	0.36788	T	-0.10897	0.62693	T	0.154961146676096	0.17492	T	0.789321	0.42944	T	.	.	.	.	.	.	.	.	-6.023	0.46472	T	.	.	0.454	0.74986	A	.;.;.;.	.;.;.;.	4.252225	0.64550	24.7	0.99807894555926624	0.89174	0.92648	0.56208	D	AEFBCI	0.643085	0.61982	D	0.385541508925727	0.60636	4.254935	0.485703618767507	0.67044	5.031382	0.999999999999836	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.71	5.71	0.89031	4.796000	0.62190	7.622000	0.62351	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.615	0.91254	219	0.91485	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	973.44	33	chr17	40181645	.	C	T	973.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.165;DP=319;ExcessHet=0;FS=1.423;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.21;ReadPosRankSum=-0.132;SOR=0.565	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1329	6	0	1	0
chr17	40193736	40193736	A	G	exonic	RAPGEFL1	.	nonsynonymous SNV	RAPGEFL1:NM_001303533:exon15:c.A1484G:p.N495S,RAPGEFL1:NM_001303534:exon15:c.A1466G:p.N489S,RAPGEFL1:NM_016339:exon15:c.A1937G:p.N646S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0329810970388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.23007	T	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.65	0.27650	T	-3.0	0.62343	D	0.306	0.34552	-0.8063	0.54772	T	0.186	0.53646	T	10	0.21048144	0.37445	T	0.032981	0.54655	D	0.160	0.41473	0.382	0.39970	0.082315109003	0.07666	0.4491345634704637	0.44831	.	.	0.635720670223	0.57957	T	0.103016	0.43304	T	-0.066179	0.41935	T	-0.332838	0.41152	T	0.980366289615631	0.73320	D	0.811219	0.46271	T	.	.	.	.	.	.	.	.	-6.867	0.55832	T	.	.	0.224	0.51934	B	.;.;.;.	.;.;.;.	4.722235	0.75979	26.4	0.99841872862950687	0.92229	0.97137	0.72907	D	AEFDGBI	0.671364	0.63813	D	0.622795257325815	0.74617	6.163467	0.620783962928401	0.76453	6.493449	0.999999995304286	0.74766	0.722319	0.85440	0	0.659037	0.61890	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	5.48	5.48	0.80675	4.777000	0.62054	11.265000	0.91209	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	14.559	0.67711	260	0.89800	.;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	102.44	35	chr17	40193736	.	A	G	102.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.355;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=-0.298;SOR=0.85	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,101,1344	6	0	1	0
chr17	40331356	40331356	C	A	exonic	RARA	.	nonsynonymous SNV	RARA:NM_000964:exon2:c.C138A:p.H46Q,RARA:NM_001145301:exon2:c.C138A:p.H46Q,RARA:NM_001145302:exon2:c.C138A:p.H46Q	Leukemia, acute promyelocytic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.398	0.122846337856	.	0.00119808	0.0004	0	0	0	0	0	0	0.0027	0.0003234	50	154602	rs562304039	0.0002	0.0002	0.0001	0.0002	0.0027	0.0002	0.0001	0.0024	0.0023	0	0	0	0	0	0	8.993e-06	0.0002	0.0027	0.0001	0.0001	7.709e-05	0.0002	0.0033	7.572e-05	6.277e-05	0.0021	0.0017	0	0	0	0	0	0	0.0034	0	0.0005	0.0033	0.294	0.23271	T	0.237	0.33442	T	0.035	0.20614	B	0.016	0.17743	B	.	.	.	.	0.932614	0.37027	D	0.895	0.22405	L	-3.04	0.92721	D	-0.81	0.22294	N	0.305	0.34444	0.341	0.88196	D	0.715	0.90217	D	9	0.008310914	0.00189	T	0.122846	0.80390	D	0.398	0.71242	0.18	0.08751	0.809686022545	0.80789	0.36065599754853556	0.35979	0.949119874168	0.72544	0.698219180107	0.66887	T	0.204373	0.56312	T	-0.187229	0.22666	T	-0.0463334	0.67272	D	0.148219322973332	0.16961	T	0.777822	0.41150	T	0.1975915	0.41629	0.16471475	0.38143	0.1975915	0.41629	0.16471475	0.38142	-2.208	0.04079	T	.	.	0.147	0.32517	B	.;.;.;.	.;.;.;.	2.145137	0.27317	17.42	0.92267327555716583	0.21651	0.70770	0.34729	D	AEFBCI	0.232342	0.35543	N	-0.0412730192627277	0.39992	2.367567	0.0771255426714132	0.43399	2.642573	0.999998367237991	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	5.29	4.31	0.50718	1.094000	0.30563	2.731000	0.34388	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9202:0.0:0.0798	13.239	0.59413	363	0.84772	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	851.63	34	chr17	40331356	.	C	A	851.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.729;DP=262;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=0.813;SOR=0.68	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1435	6	0	1	0
chr17	40799788	40799788	A	G	exonic	KRT28	.	nonsynonymous SNV	KRT28:NM_181535:exon1:c.T106C:p.C36R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0356735848932	.	.	8.263e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs776550651	5.473e-06	5.472e-06	5.445e-06	5.5e-06	0.0002	2.35e-06	1.7e-06	8.198e-05	5.784e-05	0	0	0	0.0002	0	0	0	1.656e-05	0	1.316e-05	1.314e-05	2.572e-05	0	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0.0005	0	0.002	0.72154	D	0.329	0.18617	T	0.429	0.35556	B	0.24	0.38599	B	0.653575	0.10491	N	0.840047	1	0.08975	N	2.05	0.56469	M	-0.9	0.74896	T	-3.75	0.71157	D	0.247	0.27910	-0.7944	0.55473	T	0.244	0.61213	T	10	0.13122699	0.24974	T	0.035674	0.56501	D	0.189	0.46613	0.329	0.31357	0.163833314356	0.15978	0.47807023354269806	0.47727	0.455949910606	0.45257	0.32086712122	0.13552	T	0.085893	0.37603	T	-0.266384	0.12164	T	-0.311551	0.43493	T	0.604060173034668	0.36562	D	0.364364	0.08448	T	0.68304527	0.77134	0.6102592	0.77329	0.68304527	0.77135	0.6102592	0.77330	-3.96	0.23203	T	.	.	0.080	0.07937	B	.	.	1.209066	0.16017	12.26	0.80184593443814833	0.13084	0.17942	0.20053	N	AEFBI	0.227274	0.35110	N	-0.826800405916015	0.12627	0.6167385	-0.9262850635769	0.11475	0.5847981	7.40496842446575E-4	0.07723	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.52	-1.59	0.08003	0.034000	0.13663	1.972000	0.29992	0.756000	0.94297	0.000000	0.06391	0.006000	0.19429	0.006000	0.07323	0.2862:0.6473:0.0665:0.0	12.979	0.57953	70	0.97015	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	897.49	33	chr17	40799788	.	A	G	897.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.575;DP=310;ExcessHet=0;FS=6.505;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.67;ReadPosRankSum=0.756;SOR=1.36	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr17	40822488	40822488	G	A	exonic	KRT10	.	nonsynonymous SNV	KRT10:NM_000421:exon1:c.C98T:p.S33F,KRT10:NM_001379366:exon1:c.C98T:p.S33F	Epidermolytic hyperkeratosis, Autosomal recessive, Autosomal dominant;Ichthyosis with confetti, Autosomal dominant;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, Autosomal dominant	13	1505	4	0	0	4	0.00132714	.	.	.	1018282	Epidermolytic_ichthyosis|not_provided	Human_Phenotype_Ontology:HP:0007475,MONDO:MONDO:0007239,MedGen:C0079153,OMIM:PS113800,Orphanet:312|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.301	0.0435194057321	0.0003	.	0.0003	9.843e-05	0	0	0	0.0004	0.0022	0.0005	0.0002781	43	154602	rs151149062	0.0003	0.0003	0.0002	0.0003	0.0014	0.0003	0.0002	0.0007	0.0005	0.0001	0.0002	0	0	0	0.0014	0.0003	0.0004	0.0006	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0001	0.0002	0.0002	9.651e-05	0	0.0005	0	0	0	0.0034	0.0002	0.0005	0.0006	0.001	0.78490	D	0.007	0.69154	D	0.895	0.49247	P	0.548	0.49136	P	0.245577	0.15618	N	0.478549	1	0.81001	D	2.62	0.76659	M	-1.78	0.83737	D	-1.42	0.34992	N	0.36	0.40164	-0.1874	0.77994	T	0.382	0.73877	T	10	0.19313803	0.35071	T	0.043519	0.61023	D	0.301	0.62179	.	.	0.82433787705	0.82267	0.4709612124217044	0.47015	0.458546215499	0.45466	0.483283698559	0.36508	T	0.310672	0.68262	T	-0.191809	0.21993	T	-0.183296	0.56215	T	0.0579886796468066	0.06849	T	0.284672	0.05031	T	0.12355734	0.29010	0.15657903	0.36652	0.12355734	0.29009	0.15657903	0.36651	-6.791	0.52492	T	.	.	0.279	0.51218	B	.	.	2.396345	0.30777	18.54	0.98895593161840001	0.48091	0.86196	0.45431	D	AEFDGBHCI	0.512558	0.54072	D	-0.215759605925253	0.32486	1.832647	-0.202848009238554	0.31433	1.778914	0.999999999995613	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.425852	0.06454	2	0.564101	0.26826	0	.	.	5.52	4.54	0.55220	0.016000	0.13272	4.595000	0.43974	-0.260000	0.06918	0.000000	0.06391	0.993000	0.31925	0.385000	0.26447	0.0:0.1526:0.8474:0.0	15.249	0.73224	79	0.96716	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.010101	0.002717	0.005848	0.050000	0.017241	0.000000	0.000000	0.07143	1697.44	41	chr17	40822488	.	G	A	1697.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.13;DP=339;ExcessHet=0;FS=1.459;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=2.22;SOR=0.882	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	6	0	1	0
chr17	41026663	41026663	G	A	exonic	KRTAP1-5	.	nonsynonymous SNV	KRTAP1-5:NM_031957:exon1:c.C493T:p.R165C	.	.	.	.	.	.	.	.	.	.	.	3445766	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.399	0.00618211166299	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1331853620	5.498e-06	5.472e-06	2.731e-06	8.303e-06	2.998e-05	2.37e-06	1.71e-06	8.5e-07	5.7e-07	2.998e-05	2.253e-05	3.876e-05	0	0	0	3.612e-06	0	1.165e-05	6.579e-06	6.569e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.009	0.66756	D	1.0	0.90584	D	0.993	0.81110	D	.	.	.	.	0.999955	0.52396	D	3.345	0.91022	M	0.82	0.48142	T	-6.89	0.93257	D	0.312	0.35194	-0.0133	0.81979	T	0.404	0.75430	T	9	0.5782145	0.65701	D	0.006182	0.16200	T	0.399	0.71321	0.765	0.89293	0.564282080094	0.56091	0.18477358477626463	0.18395	0.0906683578425	0.10232	0.332523107529	0.15315	T	0.057179	0.30495	T	0.0254688	0.55116	T	-0.118327	0.61939	T	0.965057836062489	0.67148	D	.	.	.	0.4525837	0.64205	0.44588062	0.67721	0.4525837	0.64205	0.44588062	0.67721	-5.396	0.40881	T	.	.	0.305	0.53347	B	.	.	4.608368	0.73054	25.9	0.99671500318315565	0.78652	0.77909	0.38364	D	AEFGBHCI	0.552678	0.56424	D	0.87067159797257	0.90250	10.31974	0.792472916039801	0.89264	9.904683	0.99999978113527	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.4	5.4	0.77957	4.161000	0.57954	3.274000	0.37181	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	15.034	0.71390	432	0.80690	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1643.44	34	chr17	41026663	.	G	A	1643.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.256;DP=358;ExcessHet=0;FS=1.386;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-1.631;SOR=0.569	GT:AD:DP:GQ:PL	0/1:63,67:130:99:1654,0,1449	6	0	1	0
chr17	41041286	41041286	G	0	exonic	KRTAP1-1	.	.	.	.	423	643	441	0	15	456	0.255356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	701.36	35	chr17	41041286	.	G	*	701.36	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.49;DP=1001;ExcessHet=2.5225;FS=0.647;MLEAC=1;MLEAF=0.071;MQ=59.31;MQRankSum=-9.31;QD=0.77;ReadPosRankSum=4.01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:274,0:307:99:0|1:41041286_G_T:561,1386,12550:41041286	6	0	1	0
chr17	41041297	41041297	G	0	exonic	KRTAP1-1	.	.	.	.	0	91	122	0	13	135	0.401316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	687.36	35	chr17	41041297	.	G	*	687.36	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.76;DP=1037;ExcessHet=2.5225;FS=0.657;MLEAC=1;MLEAF=0.071;MQ=59.34;MQRankSum=-9.517;QD=0.72;ReadPosRankSum=3.12;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:285,0:339:99:0|1:41041286_G_T:565,1423,12838:41041286	6	0	1	0
chr17	41041341	41041341	G	0	exonic	KRTAP1-1;KRTAP9-7	.	.	.	.	423	805	280	0	14	294	0.148148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	45.68	35	chr17	41041341	.	G	*	45.68	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.76;DP=1009;ExcessHet=0.3476;FS=1.3;MLEAC=1;MLEAF=0.071;MQ=59.38;MQRankSum=-9.639;QD=0.09;ReadPosRankSum=-0.464;SOR=0.559	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:296,0:296:14:.:.:0,14,7096:.	6	0	1	0
chr17	41105840	41105840	G	A	exonic	KRTAP4-9;LOC100996750	.	nonsynonymous SNV	KRTAP4-9:NM_001146041:exon1:c.G452A:p.R151H,LOC100996750:NM_001365252:exon2:c.G437A:p.R146H	.	406	1085	31	0	0	31	0.0140845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00611340246952	.	0.000998403	0.0006	0.0053	0.0002	0.0010	0	5.124e-05	0	0.0009	0.000401	62	154602	rs538241229	0.0004	0.0007	0.0003	0.0004	0.0071	0.0003	0.0003	0.0064	0.0061	0.0071	0.0005	3.85e-05	0.0014	0	0.0004	6.86e-05	0.0006	0.0010	0.0024	0.0058	0.0025	0.0024	0.0082	0.0022	0.0021	0.0075	0.0072	0.0082	0	0.0007	0.0003	0.0008	0	0	0.0001	0	0.0011	0.099	0.30656	T	0.089	0.40426	T	0.003	0.11197	B	0.001	0.04355	B	0.586011	0.05564	N	1.407670	1	0.08975	N	1.945	0.52268	M	6.27	0.00562	T	-2.83	0.59710	D	0.082	0.14054	-0.8668	0.50768	T	0.003	0.01092	T	10	0.006554723	0.00149	T	0.006113	0.15993	T	0.056	0.15993	.	.	0.0954503805726	0.09146	0.049534052917623625	0.04896	0.221867951472	0.24722	0.184167638421	0.00138	T	0.041834	0.25987	T	-0.672734	0.00053	T	-0.733562	0.04168	T	0.0181985586081498	0.00541	T	0.0573943	0.00475	T	0.04352815	0.06798	0.06497193	0.13102	0.04352815	0.06798	0.06497193	0.13101	-7.893	0.60339	D	.	.	0.102	0.18910	B	.;.	.;.	1.974451	0.25085	16.63	0.95294399281926812	0.26605	0.01576	0.05139	N	AEFGBI	0.031699	0.03440	N	-0.750597956960849	0.14617	0.7296202	-0.844697173013674	0.13414	0.6957837	3.92456541770032E-4	0.06820	0.446893	0.09132	0	0.563428	0.19063	0	0.491513	0.07944	0	0.613276	0.41899	0	.	.	3.18	1.09	0.19517	-0.814000	0.04593	-1.350000	0.05649	0.352000	0.19979	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.25:0.2029:0.5471:0.0	3.801	0.08276	286	0.88678	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	58.44	39	chr17	41105840	.	G	A	58.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.834;DP=482;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=50.32;MQRankSum=-1.981;QD=8.35;ReadPosRankSum=-0.842;SOR=0.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:128,0:128:99:.:.:0,120,1800:.	6	0	1	0
chr17	41226817	41226817	A	G	exonic	KRTAP9-2	.	nonsynonymous SNV	KRTAP9-2:NM_031961:exon1:c.A163G:p.T55A	.	425	1074	23	0	0	23	0.0105942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00107116852984	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs71371480	4.462e-06	6.164e-05	2.949e-06	6.002e-06	5.634e-05	1.61e-06	1.05e-06	9.33e-06	3.49e-06	0	0	0	5.634e-05	0	0	3.848e-06	0	0	8.37e-05	0.0040	8.167e-05	8.583e-05	0.0001	4.754e-05	3.715e-05	4.988e-05	3.582e-05	0.0001	0	6.923e-05	0	0	0	0	0.0001	0	0	0.239	0.17761	T	0.194	0.28120	T	0.057	0.22878	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	1.615	0.41426	L	4.93	0.01395	T	-2.18	0.49187	N	0.052	0.02366	-0.9083	0.47061	T	0.003	0.00800	T	9	0.069259465	0.09913	T	0.001071	0.01239	T	0.019	0.03383	0.272	0.22210	0.0806252709748	0.07271	0.06562531389351679	0.06501	1.12458278325	0.78412	0.193279489875	0.00288	T	0.016892	0.13877	T	-0.329445	0.06154	T	-0.711002	0.05244	T	0.0578466179088175	0.06824	T	0.00989901	0.00051	T	0.030785557	0.02802	0.043039963	0.05265	0.030785557	0.02801	0.043039963	0.05265	-2.973	0.09893	T	.	.	0.075	0.05491	B	.	.	-0.162279	0.03290	0.566	0.19617231370711175	0.00670	0.02148	0.06321	N	AEFBI	0.028638	0.02560	N	-1.71002807248366	0.00807	0.03487423	-1.80660392748605	0.00738	0.03290239	1.56655996843476E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.18	-4.25	0.03508	-0.848000	0.04435	-20.000000	0.00162	-0.756000	0.03544	0.000000	0.06391	0.000000	0.08366	0.172000	0.21044	0.272:0.1967:0.143:0.3883	0.293	0.00242	115	0.95340	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	191.23	226	chr17	41226817	.	A	G	191.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.92;DP=1813;ExcessHet=0;FS=41.771;MLEAC=1;MLEAF=0.083;MQ=56.39;MQRankSum=-10.04;QD=0.65;ReadPosRankSum=-5.759;SOR=3.404	GT:AD:DP:GQ:PL	0/0:371,0:371:99:0,120,1800	5	0	1	1
chr17	41382308	41382308	A	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.T65C:p.L22P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.018428726593	.	.	8.238e-06	0	0	0	0	0	0.0011	0	7.76e-05	12	154602	rs756013781	5.481e-06	0.0003	8.182e-06	2.754e-06	2.236e-05	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0	5.403e-06	1.659e-05	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.003	0.76473	D	0.976	0.58310	D	0.556	0.49411	P	.	.	.	.	0.999455	0.47118	D	1.245	0.31408	L	-1.89	0.84557	D	.	.	.	0.669	0.67736	-1.0427	0.16503	T	0.078	0.31042	T	8	0.66327584	0.70279	D	0.018429	0.40491	T	.	.	0.428	0.47515	0.761221526906	0.75905	0.03657958571385173	0.03604	0.342438391368	0.36184	0.435077399015	0.29903	T	0.021796	0.16915	T	0.121469	0.66520	D	-0.0632948	0.66101	T	0.91840136051178	0.57665	D	0.333767	0.07077	T	0.1847125	0.39799	0.32490122	0.58410	0.1847125	0.39799	0.32490122	0.58410	-3.974	0.23413	T	.	.	0.079	0.07130	B	.	.	1.715876	0.21849	15.37	0.98901740872576172	0.48199	0.67040	0.33290	D	AEFDBCI	0.211856	0.33761	N	0.136755772330337	0.48185	3.034055	0.188891208117852	0.49238	3.129369	0.733449985707655	0.23090	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	5.17	0.70848	1.869000	0.39156	2.221000	0.31450	0.660000	0.55035	0.999000	0.42656	1.000000	0.68203	0.332000	0.25247	0.7462:0.1678:0.086:0.0	5.942	0.18435	167	0.93508	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	485.34	62	chr17	41382308	.	A	G	485.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-4.409;DP=485;ExcessHet=0.3476;FS=226.68;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=2.6;ReadPosRankSum=1.55;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:158,21:179:29:0|1:41382308_A_G:0,29,6227:41382308	5	0	2	0
chr17	41382311	41382311	C	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G62C:p.R21T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00843288255634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.114e-05	0.0014	3.86e-05	2.362e-05	3.828e-05	2.374e-05	2.119e-05	2.866e-05	2.541e-05	0	0	3.836e-05	2.523e-05	0	0	3.828e-05	0	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.28764	T	0.049	0.22227	B	0.026	0.20792	B	.	.	.	.	0.997716	0.22540	N	0.755	0.19153	N	-1.61	0.82254	D	.	.	.	0.508	0.53972	-1.0258	0.21821	T	0.039	0.16892	T	8	0.18996203	0.34618	T	0.008433	0.22307	T	.	.	0.37	0.38013	0.612421581757	0.60929	0.08565298375764323	0.08499	0.0546681382285	0.06050	0.306222051382	0.11336	T	0.02167	0.16835	T	-0.00440713	0.51045	T	-0.244107	0.50396	T	0.0275842688571556	0.01628	T	0.50295	0.15803	T	0.07200823	0.15984	0.06444694	0.12916	0.07200823	0.15984	0.06444694	0.12916	-3.403	0.15097	T	.	.	0.119	0.24294	B	.	.	1.042832	0.14237	10.81	0.88324392343806579	0.17887	0.65189	0.32654	D	AEFDBCI	0.111491	0.22072	N	-0.660458155333548	0.17157	0.8804225	-0.554068222297903	0.20697	1.116332	0.0465120987434442	0.14694	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	-0.174	0.12665	0.036000	0.13706	-0.541000	0.08582	0.596000	0.33519	0.869000	0.30776	0.000000	0.08366	0.387000	0.26492	0.1565:0.3623:0.0:0.4812	4.436	0.10975	167	0.93508	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	413.36	62	chr17	41382311	.	C	G	413.36	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.453;DP=486;ExcessHet=0.3476;FS=219.627;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.43;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:158,21:179:29:0|1:41382308_A_G:0,29,6227:41382308	6	0	1	0
chr17	41382311	41382311	C	T	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G62A:p.R21K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00559261676492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.27235	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999663	0.20745	N	1.1	0.28011	L	-1.55	0.81727	D	.	.	.	0.199	0.21969	-1.0308	0.20195	T	0.039	0.16935	T	8	0.08334431	0.13855	T	0.005593	0.14439	T	.	.	0.293	0.25560	0.657325010897	0.65446	0.07906609140832596	0.07841	0.0402348126993	0.04305	0.306056171656	0.11311	T	0.021002	0.16432	T	-0.119232	0.33249	T	-0.409045	0.32335	T	0.0497427848752955	0.05455	T	0.382662	0.09313	T	0.069265865	0.15160	0.074363045	0.16259	0.069265865	0.15160	0.074363045	0.16259	-2.912	0.09264	T	.	.	0.091	0.13080	B	.	.	1.087164	0.14705	11.26	0.93968684478021924	0.24041	0.45317	0.27512	N	AEFDBCI	0.063292	0.12223	N	-0.668850020287515	0.16912	0.8658866	-0.557939429380533	0.20595	1.110326	0.0465120987434442	0.14694	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	-0.174	0.12665	0.036000	0.13706	-0.541000	0.08582	0.596000	0.33519	0.869000	0.30776	0.000000	0.08366	0.387000	0.26492	0.1565:0.3623:0.0:0.4812	4.436	0.10975	167	0.93508	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	413.36	62	chr17	41382311	.	C	T	413.36	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.453;DP=486;ExcessHet=0.3476;FS=219.627;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.43;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:158,0:179:29:0|1:41382308_A_G:0,474,6733:41382308	6	0	1	0
chr17	41420934	41420934	A	C	exonic	KRT37	.	nonsynonymous SNV	KRT37:NM_003770:exon7:c.T1294G:p.C432G	.	418	1089	15	0	0	15	0.00683995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	.	0.0005	0.00219649	0.0012	0.0002	0.0003	0	0	0.0002	0	0.0078	0.0010608	164	154602	rs144573570	0.0006	0.0007	0.0004	0.0009	0.0079	0.0006	0.0006	0.0074	0.0072	2.987e-05	0.0005	0	0	0	0.0035	0.0002	0.0007	0.0079	0.0005	0.0005	0.0003	0.0006	0.0060	0.0004	0.0003	0.0043	0.0037	4.809e-05	0	0.0009	0	0.0002	0	0	0.0003	0.0009	0.0060	0.0	0.91255	D	0.027	0.55341	D	0.001	0.07471	B	0.001	0.04355	B	0.005039	0.33162	N	0.140146	1	0.08975	N	1.1	0.28011	L	-1.5	0.81318	D	-6.52	0.91695	D	0.207	0.22998	-0.9547	0.40149	T	0.139	0.45772	T	10	0.003955066	0.00076	T	.	.	.	0.221	0.51721	.	.	0.243398259712	0.23965	0.05350183222236431	0.05292	0.0704159938913	0.07888	0.275051265955	0.06812	T	0.065794	0.32781	T	-0.399338	0.02338	T	-0.341692	0.40152	T	0.030195224821618	0.02019	T	.	.	.	0.24073601	0.46980	0.3732129	0.62513	0.24073601	0.46980	0.3732129	0.62513	-3.958	0.23173	T	.	.	0.063	0.01470	B	.	.	1.085848	0.14694	11.24	0.69858002174764522	0.09107	0.04575	0.10222	N	AEFDBCI	0.058417	0.10958	N	-1.24302847384003	0.04392	0.1981244	-1.23065367981739	0.05424	0.2583978	0.999524743457857	0.40175	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.38	0.159	0.14256	-0.069000	0.11501	0.311000	0.17083	-0.208000	0.08445	0.017000	0.19353	0.000000	0.08366	0.040000	0.14268	0.5037:0.157:0.188:0.1513	0.977	0.01339	189	0.92630	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	275.44	46	chr17	41420934	.	A	C	275.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.738;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.99;ReadPosRankSum=-0.538;SOR=0.836	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	6	0	1	0
chr17	41487406	41487406	T	A	exonic	KRT36	.	nonsynonymous SNV	KRT36:NM_003771:exon5:c.A932T:p.E311V	.	411	1064	45	2	0	49	0.022508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.826	.	0.0004	0.00239617	0.0022	0.0005	0.0020	0.0001	0	0.0011	0.0045	0.0099	0.0019599	303	154602	rs139865124	0.0015	0.0015	0.0011	0.0019	0.0346	0.0015	0.0015	0.0306	0.0291	0.0008	0.0015	0.0038	2.519e-05	3.747e-05	0.0346	0.0006	0.0028	0.0115	0.0009	0.0010	0.0007	0.0012	0.0133	0.0008	0.0008	0.0107	0.0097	0.0001	0	0.0008	0.0020	0.0002	0	0.0306	0.0006	0.0028	0.0133	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000097	0.51296	D	0.000000	0.999452	0.47118	D	3.995	0.96723	H	-2.83	0.91249	D	-6.56	0.91868	D	0.43	0.46928	1.054	0.98202	D	0.904	0.96822	D	10	0.012003839	0.00260	T	.	.	.	0.826	0.94466	.	.	0.922751822367	0.92196	0.5184686235104664	0.51769	0.841499628606	0.68094	0.47562456131	0.35455	T	0.584972	0.86467	D	0.123324	0.66705	D	0.413765	0.92547	D	0.155424858219359	0.17527	T	0.817618	0.47476	T	0.8597732	0.88068	0.89466405	0.94597	0.8597732	0.88069	0.89466405	0.94598	-11.675	0.83232	D	.	.	0.557	0.67081	A	.;.	.;.	4.570543	0.72107	25.8	0.99565129901665927	0.72014	0.94864	0.62595	D	AEFDGBCI	0.765615	0.70205	D	0.920670767402718	0.92734	11.59737	0.843328895874802	0.92620	11.53265	0.999899793254436	0.45129	0.59774	0.34471	0	0.610034	0.51514	0	0.596491	0.31596	0	0.584449	0.35598	0	.	.	5.95	5.95	0.96415	3.203000	0.50777	7.780000	0.68649	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:0.0:0.0:1.0	16.407	0.83516	445	0.79730	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022155	0.005051	0.025815	0.052632	0.000000	0.025862	0.003049	0.022727	0.07143	3596.44	38	chr17	41487406	.	T	A	3596.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.427;DP=452;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=-2.575;SOR=0.68	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,96:237:99:0|1:41487406_T_A:3607,0,5622:41487406	6	0	1	0
chr17	41487407	41487407	C	A	exonic	KRT36	.	stopgain	KRT36:NM_003771:exon5:c.G931T:p.E311X	.	411	1063	46	2	0	50	0.0229779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.00239617	0.0022	0.0005	0.0020	0.0001	0	0.0011	0.0045	0.0099	0.0019599	303	154602	rs145372311	0.0015	0.0015	0.0011	0.0019	0.0346	0.0015	0.0015	0.0306	0.0291	0.0008	0.0016	0.0038	2.519e-05	3.748e-05	0.0346	0.0006	0.0028	0.0116	0.0009	0.0010	0.0007	0.0012	0.0133	0.0008	0.0008	0.0107	0.0097	0.0001	0	0.0008	0.0020	0.0002	0	0.0306	0.0006	0.0028	0.0133	.	.	.	.	.	.	.	.	.	.	.	.	0.000097	0.51296	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.136	0.15749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237408	0.77415	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	10.308796	0.99688	46	0.9978149732722128	0.86780	0.97345	0.74163	D	AEFDGBCI	0.278041	0.39242	N	1.22290231108648	0.99733	25.95499	1.09354310977779	0.99756	26.34876	0.999999598163311	0.74766	0.59774	0.34471	0	0.610034	0.51514	0	0.596491	0.31596	0	0.584449	0.35598	0	.	.	5.95	5.95	0.96415	5.814000	0.68884	7.566000	0.60594	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.938000	0.47775	0.0:1.0:0.0:0.0	20.378	0.98924	445	0.79730	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022155	0.005051	0.025815	0.052632	0.000000	0.025862	0.003049	0.022727	0.07143	3596.44	38	chr17	41487407	.	C	A	3596.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.86;DP=453;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=-2.492;SOR=0.68	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,96:237:99:0|1:41487406_T_A:3607,0,5622:41487406	6	0	1	0
chr17	41502730	41502730	G	A	exonic	KRT13	.	nonsynonymous SNV	KRT13:NM_002274:exon5:c.C980T:p.T327M,KRT13:NM_153490:exon5:c.C980T:p.T327M	White sponge nevus 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2266840	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.430	0.0680573606146	.	.	1.648e-05	0	0	0	0	1.499e-05	0	6.056e-05	1.29e-05	2	154602	rs775287167	2.257e-05	2.257e-05	2.178e-05	2.338e-05	0.0001	1.61e-05	1.416e-05	5.395e-05	4.042e-05	0	2.236e-05	0	5.038e-05	0	0	1.888e-05	0	0.0001	1.971e-05	1.97e-05	0	4.033e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0.0002	0.015	0.57480	D	0.015	0.63918	D	1.0	0.90584	D	0.992	0.80445	D	0.000250	0.46924	D	0.000000	1	0.08975	N	2.48	0.72069	M	-2.5	0.89219	D	-3.95	0.73477	D	0.485	0.51940	0.138	0.84841	D	0.769	0.92157	D	10	0.46490496	0.59510	T	0.068057	0.70342	D	0.430	0.73662	0.462	0.53079	0.948419999819	0.94787	0.05196331848108905	0.05138	0.497249836479	0.48222	0.544361650944	0.45062	T	0.498118	0.87910	T	-0.0288206	0.47588	T	-0.0765213	0.65158	T	0.909795463085175	0.56481	D	0.737926	0.36463	T	0.29824334	0.52747	0.46321526	0.68838	0.29824334	0.52747	0.46321526	0.68838	-8.214	0.62519	D	.	.	0.162	0.35726	B	.;.;.	.;.;.	4.662897	0.74439	26.2	0.99881797594869448	0.95813	0.25628	0.22755	N	AEFBI	0.336785	0.43479	N	0.257014292105208	0.53987	3.565484	0.124754016093537	0.45819	2.838324	0.0338096547470042	0.14123	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.45	4.45	0.53365	0.820000	0.26979	6.652000	0.56219	0.606000	0.46413	0.000000	0.06391	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.8149:0.185	11.976	0.52379	440	0.80101	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;.;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2341.44	34	chr17	41502730	.	G	A	2341.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.35;DP=413;ExcessHet=0;FS=0.501;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=1.09;SOR=0.68	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1337	6	0	1	0
chr17	41503718	41503718	G	T	exonic	KRT13	.	nonsynonymous SNV	KRT13:NM_002274:exon2:c.C503A:p.T168N,KRT13:NM_153490:exon2:c.C503A:p.T168N	White sponge nevus 2, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.0519026293604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.421e-06	4.104e-06	4.084e-06	2.75e-06	5.038e-05	1e-06	7.3e-07	8.35e-06	3.12e-06	0	0	0	5.038e-05	0	0	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	0.16520	T	0.619	0.07972	T	0.249	0.31168	B	0.216	0.37572	B	0.158141	0.17749	N	0.458480	1	0.08975	N	0.695	0.17993	N	-2.43	0.88689	D	-0.5	0.15782	N	0.128	0.20395	-0.5781	0.65692	T	0.401	0.75230	T	10	0.12997565	0.24734	T	0.051903	0.64853	D	0.139	0.37390	0.368	0.37687	0.800766104729	0.79891	0.07118089347187692	0.07055	0.191050775791	0.21425	0.288884341717	0.08760	T	0.169576	0.64560	T	-0.171461	0.25013	T	-0.484069	0.24015	T	0.0667977333068848	0.08195	T	0.357564	0.08250	T	0.050247088	0.09048	0.049088426	0.07429	0.050247088	0.09048	0.049088426	0.07428	-4.246	0.28886	T	.	.	0.087	0.11027	B	.;.;.;.	.;.;.;.	0.773391	0.11435	8.042	0.94532959089664181	0.25032	0.09444	0.15198	N	AEFBI	0.153932	0.27887	N	-0.68314240738348	0.16503	0.841341	-0.636664838453072	0.18554	0.9916611	6.66532451691807E-4	0.07575	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.73	1.32	0.20897	-0.563000	0.06034	1.151000	0.24481	0.676000	0.76740	0.000000	0.06391	0.007000	0.19602	0.456000	0.28029	0.0752:0.129:0.3757:0.4201	4.215	0.09984	440	0.80101	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;.;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2110.44	43	chr17	41503718	.	G	T	2110.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.544;DP=603;ExcessHet=0;FS=3.264;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-0.611;SOR=0.502	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	6	0	1	0
chr17	41690169	41690169	A	-	exonic	EIF1	.	frameshift deletion	EIF1:NM_005801:exon3:c.277delA:p.I93Yfs*6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	37.4	34	chr17	41690168	.	CA	C	37.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.23;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.4;ReadPosRankSum=0.473;SOR=0.527	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1117	6	0	1	0
chr17	41725143	41725143	C	T	exonic	HAP1	.	nonsynonymous SNV	HAP1:NM_001079870:exon10:c.G1367A:p.R456H,HAP1:NM_001079871:exon10:c.G1343A:p.R448H,HAP1:NM_001367461:exon10:c.G1343A:p.R448H,HAP1:NM_001367459:exon11:c.G1514A:p.R505H,HAP1:NM_001367460:exon11:c.G1478A:p.R493H,HAP1:NM_177977:exon11:c.G1418A:p.R473H	.	408	1107	6	1	0	8	0.00360036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00352523784323	7.7e-05	0.000599042	0.0002	0	0.0003	0	0	6.242e-05	0.0012	0.0013	0.0002393	37	154602	rs374915588	0.0002	0.0002	0.0001	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	0	0.0004	8.271e-05	0	1.981e-05	0.0013	4.57e-05	0.0002	0.0018	0.0001	0.0001	0.0001	8.061e-05	0.0012	7.09e-05	5.746e-05	0.0005	0.0004	2.408e-05	0	0.0005	0	0	0	0	2.94e-05	0	0.0012	0.037	0.43708	D	0.014	0.64786	D	0.027	0.27347	B	0.009	0.19653	B	0.429161	0.04694	N	1.485280	1	0.08975	N	0.805	0.20218	L	3.09	0.08371	T	-1.61	0.38734	N	0.069	0.04426	-0.9600	0.39181	T	0.017	0.07045	T	10	0.012384951	0.00266	T	0.003525	0.08000	T	0.022	0.04323	.	.	0.303123707472	0.29912	0.01976790684104505	0.01929	0.412298290738	0.41975	0.23297084868	0.02195	T	0.092321	0.38979	T	-0.728488	0.00024	T	-0.826463	0.01326	T	0.0314738497580105	0.02221	T	0.528347	0.17878	T	0.027514383	0.01954	0.0198511	0.00107	0.027514383	0.01954	0.0198511	0.00107	-3.796	0.20745	T	.	.	0.079	0.12037	B	.;.;.;.	.;.;.;.	0.679852	0.10482	7.199	0.91957993314717756	0.21286	0.01994	0.06016	N	AEFBI	0.032889	0.03797	N	-1.02054594913114	0.08178	0.3825429	-1.11251719714371	0.07460	0.3629677	1.17746218220974E-5	0.02871	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	2.49	0.348	0.15264	-0.854000	0.04407	-3.385000	0.02827	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.6993:0.0:0.3007	5.17	0.14432	550	0.72197	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	574.53	37	chr17	41725143	.	C	T	574.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.67;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=1.34;SOR=0.593	GT:AD:DP:GQ:PL	0/1:24,22:46:99:585,0,567	6	0	1	0
chr17	41936912	41936912	C	T	exonic	TTC25	.	nonsynonymous SNV	TTC25:NM_001350319:exon5:c.C610T:p.L204F,TTC25:NM_031421:exon5:c.C610T:p.L204F	Ciliary dyskinesia, primary, 35, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	.	.	.	2.491e-05	0	8.655e-05	0	0	0	0	0.0001	1.94e-05	3	154602	rs781955655	8.21e-06	8.209e-06	2.723e-06	1.375e-05	0.0001	4.38e-06	3.46e-06	7.123e-05	5.481e-05	0	0	0	0	0	0	0	1.657e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.45318	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	.	.	.	.	.	.	.	.	.	.	.	.	0.751	0.75009	-0.0953	0.80207	T	0.377	0.73445	T	8	0.69240904	0.71936	D	.	.	.	0.257	0.56827	0.44	0.49484	0.159798565429	0.15598	0.4979596284497784	0.49716	.	.	0.636693775654	0.58095	T	0.311968	0.68382	T	0.107533	0.65096	D	0.176367	0.81785	D	0.847008168697357	0.49909	D	0.90251	0.65969	D	0.29036787	0.52027	0.37823486	0.62905	0.29036787	0.52027	0.37823486	0.62905	-8.56	0.64825	D	.	.	0.488	0.64053	A	.	.	4.785704	0.77609	26.7	0.99841490876226835	0.92229	0.95289	0.64144	D	AEFBI	.	.	.	0.715448802635083	0.80644	7.340418	0.684384306614889	0.81195	7.469825	0.999368604390045	0.39301	0.088506	0.02282	0	0.067934	0.01796	0	0.121303	0.03266	0	0.10565	0.03146	0	0.965869	0.68804	6.04	6.04	0.98025	2.315000	0.43412	7.685000	0.65502	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.357000	0.25818	0.0:0.8177:0.0:0.1823	10.112	0.41741	506	0.75555	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	687.83	67	chr17	41936912	.	C	T	687.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.145;DP=242;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=-1.818;SOR=0.812	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1281	6	0	1	0
chr17	42027715	42027715	C	T	exonic	ZNF385C	.	nonsynonymous SNV	ZNF385C:NM_001378270:exon8:c.G1175A:p.R392K	.	414	1100	6	2	0	10	0.00452489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	.	0.0017	0.00179712	0.0017	0.0005	0.0009	0	0.0015	0.0017	0.0022	0.0041	0.0016753	259	154602	rs151041175	0.0017	0.0017	0.0016	0.0018	0.0049	0.0017	0.0016	0.0046	0.0044	0.0004	0.0012	0.0003	0	0.0015	0.0028	0.0017	0.0013	0.0049	0.0015	0.0015	0.0017	0.0013	0.0046	0.0013	0.0013	0.0031	0.0026	0.0003	0	0.0029	0.0003	0	0.0008	0	0.0019	0.0024	0.0046	0.027	0.46513	D	0.043	0.49942	D	.	.	.	.	.	.	0.000001	0.62929	N	0.093378	0.99958	0.47691	D	.	.	.	2.93	0.09822	T	-2.49	0.54217	N	0.342	0.38335	-1.0839	0.06609	T	0.022	0.09513	T	10	0.010290474	0.00230	T	.	.	.	0.104	0.29647	.	.	0.0920862733494	0.08535	0.34173564279456925	0.34086	.	.	0.588570713997	0.51293	T	.	.	.	-0.425054	0.01589	T	-0.383208	0.35346	T	0.0901751338472701	0.11239	T	0.89861	0.64536	D	0.5295049	0.68802	0.63403386	0.78640	0.5295049	0.68803	0.63403386	0.78641	.	.	.	.	.	0.343	0.56138	A	.;.;.	.;.;.	3.836771	0.55490	23.6	0.98206162371127925	0.39167	0.96124	0.67642	D	AEFDBI	0.725255	0.67430	D	-0.142888475265299	0.35538	2.042532	-0.0226006809192264	0.38695	2.283541	0.999998742448566	0.74766	0.0	0.00013	3	0.514364	0.08380	0	0.584781	0.30282	0	0.613276	0.41899	0	.	.	5.14	3.16	0.35406	4.561000	0.60519	4.859000	0.45451	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8575:0.0:0.1425	11.774	0.51245	496	0.76301	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Matrin/U1-C-like, C2H2-type zinc finger;Zinc finger C2H2-type|Zinc finger C2H2-type|Matrin/U1-C-like, C2H2-type zinc finger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000519	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	476.63	33	chr17	42027715	.	C	T	476.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.323;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.984;SOR=0.693	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,1350	6	0	1	0
chr17	42040831	42040831	C	T	exonic	C17orf113	.	nonsynonymous SNV	C17orf113:NM_001358661:exon3:c.G902A:p.R301Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs555239497	0.0002	0.0001	0.0001	0.0002	0.0048	0.0001	0.0001	0.0037	0.0034	0	0	0	0	0	0.0048	5.869e-05	0.0005	0.0045	0.0002	0.0002	6.423e-05	0.0003	0.0037	0.0001	0.0001	0.0024	0.0020	7.213e-05	0	0	0	0	0	0	0.0001	0	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999778	0.20412	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05076769	0.04857	T	.	.	.	.	.	.	.	.	.	0.44260831875692286	0.44177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.571043	0.20346	T	0.12093387	0.28447	0.22370467	0.47258	0.12093387	0.28447	0.22370467	0.47257	-4.513	0.31058	T	.	.	0.079	0.07177	B	.	.	2.582554	0.33487	19.35	0.83043548421707447	0.14512	0.07628	0.13636	N	AEFDBI	.	.	.	.	.	.	.	.	.	3.66517558978372E-5	0.03775	0.158359	0.03455	1	0.097471	0.02872	0	0.175771	0.04330	1	0.079188	0.02158	0	0.236872	0.32007	5.15	2.08	0.26079	1.081000	0.30402	0.049000	0.13974	0.599000	0.40250	0.001000	0.13787	0.005000	0.19230	0.986000	0.61781	0.0:0.7637:0.0:0.2363	9.114	0.35907	489	0.76795	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	38.95	.	chr17	42040831	.	C	T	38.95	.	AC=2;AF=0.333;AN=6;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=60;QD=19.48;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	2	1	0	4
chr17	42041015	42041015	C	T	exonic	C17orf113	.	nonsynonymous SNV	C17orf113:NM_001358661:exon3:c.G718A:p.V240M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.778e-06	3.42e-06	3.508e-06	1.961e-06	4.354e-05	7.4e-07	2.1e-07	.	.	4.354e-05	0	0	0	0	0	0	4.579e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19910812	0.35906	T	.	.	.	.	.	.	.	.	.	0.16009262728284848	0.15930	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554445	0.19192	T	0.042655006	0.06507	0.13696869	0.32752	0.042655006	0.06506	0.13696869	0.32751	-5.455	0.41445	T	.	.	0.090	0.12797	B	.	.	2.594567	0.33663	19.41	0.79194580226021394	0.12632	0.62211	0.31713	D	AEFDBI	.	.	.	.	.	.	.	.	.	9.19493974692155E-5	0.04910	0.158359	0.03455	1	0.097471	0.02872	0	0.175771	0.04330	1	0.083433	0.02327	0	0.260885	0.33253	5.1	2.97	0.33479	1.217000	0.32059	0.283000	0.16788	0.599000	0.40250	0.998000	0.41325	0.016000	0.20520	0.994000	0.71098	0.3391:0.5661:0.0:0.0949	6.098	0.19251	489	0.76795	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	37.84	2	chr17	42041015	.	C	T	37.84	.	AC=2;AF=0.25;AN=8;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;QD=18.92;SOR=0.693	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,49	3	1	0	3
chr17	42043120	42043120	C	A	exonic	C17orf113	.	nonsynonymous SNV	C17orf113:NM_001358661:exon2:c.G257T:p.R86L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21327725	0.37814	T	.	.	.	.	.	.	.	.	.	0.3031619562062926	0.30229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.633437	0.24778	T	0.3768866	0.59090	0.53007674	0.72848	0.3768866	0.59091	0.53007674	0.72848	-4.932	0.36093	T	.	.	0.192	0.41109	B	.	.	2.507849	0.32382	19.03	0.92223733174788669	0.21598	0.87315	0.46817	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.0697102970091862	0.15499	0.078448	0.01964	0	0.097471	0.02872	0	0.072005	0.02045	0	0.092715	0.02821	0	0.410273	0.37867	3.73	2.75	0.31439	0.511000	0.22445	0.012000	0.13456	0.597000	0.34315	0.998000	0.41325	0.295000	0.24188	0.999000	0.91618	0.0:0.9039:0.0:0.0961	10.607	0.44590	486	0.77016	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	32.65	2	chr17	42043120	.	C	A	32.65	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.967;DP=14;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/0:7,0:7:21:0,21,197	4	0	1	2
chr17	42299781	42299781	C	T	exonic	STAT5A	.	nonsynonymous SNV	STAT5A:NM_001288719:exon5:c.C491T:p.P164L,STAT5A:NM_001288718:exon6:c.C581T:p.P194L,STAT5A:NM_001288720:exon6:c.C581T:p.P194L,STAT5A:NM_003152:exon7:c.C581T:p.P194L	.	3	1518	0	1	0	2	0.000658328	.	.	.	2363291	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.180	0.0873620576646	.	0.000399361	0.0001	0	8.67e-05	0	0	0.0002	0	0.0002	0.0001164	18	154602	rs200134221	9.85e-05	9.85e-05	7.351e-05	0.0001	0.0014	8.511e-05	7.981e-05	0.0007	0.0005	2.987e-05	4.472e-05	0	0	0	0.0014	8.543e-05	0.0002	0.0003	8.536e-05	8.53e-05	7.709e-05	9.402e-05	0.0004	4.954e-05	3.96e-05	7.29e-05	3.34e-05	4.814e-05	0	0.0001	0	0	0	0	0.0001	0	0.0004	0.198	0.20532	T	0.203	0.59732	T	0.566	0.38464	P	0.142	0.33681	B	0.000119	0.50451	D	0.175332	1	0.81001	D	2.075	0.57047	M	0.18	0.60361	T	-2.34	0.51811	N	0.672	0.67995	-0.8838	0.49456	T	0.178	0.52381	T	10	0.12321043	0.23386	T	0.087362	0.74920	D	0.180	0.45073	.	.	0.463073977797	0.45932	0.40465341983122055	0.40381	1.01254877537	0.74827	0.654599249363	0.60639	T	0.775674	0.94032	D	-0.265872	0.12221	T	-0.315135	0.43106	T	0.147615410129373	0.16912	T	0.981102	0.94177	D	0.11531306	0.27212	0.12988015	0.31221	0.11531306	0.27212	0.12988015	0.31220	-6.418	0.52959	T	.	.	0.159	0.35204	B	.;.;.;.;.	.;.;.;.;.	3.893983	0.56683	23.8	0.90293399089755888	0.19561	0.94676	0.61949	D	AEFGBCI	0.522316	0.54638	D	0.153152660393569	0.48960	3.102005	0.257654083136027	0.53087	3.479397	0.999945143113918	0.47345	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.78	4.78	0.60666	5.663000	0.67708	5.358000	0.48392	0.565000	0.28586	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.809	0.88521	363	0.84772	STAT transcription factor, all-alpha domain;STAT transcription factor, all-alpha domain;.;STAT transcription factor, all-alpha domain;STAT transcription factor, all-alpha domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	673.63	62	chr17	42299781	.	C	T	673.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.063;DP=245;ExcessHet=0;FS=0.948;MLEAC=1;MLEAF=0.071;MQ=58.23;MQRankSum=-0.357;QD=10.87;ReadPosRankSum=-0.007;SOR=0.836	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,112,1493	6	0	1	0
chr17	42502812	42502821	GCCCCAGTCA	-	exonic	ATP6V0A1	.	frameshift deletion	ATP6V0A1:NM_001378534:exon18:c.2044_2053del:p.P683Qfs*8,ATP6V0A1:NM_001378535:exon18:c.2023_2032del:p.P676Qfs*8,ATP6V0A1:NM_001378530:exon19:c.2146_2155del:p.P717Qfs*8	.	943	577	2	0	0	2	0.0017301	.	.	.	3896534	Developmental_and_epileptic_encephalopathy_104	MONDO:MONDO:0031021,MedGen:C5774183,OMIM:619970	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0032	0	0	0	0	0.0056	0	0	0.000461	12	26028	rs570121404	0.0089	0.0002	0.0057	0.0109	.	0.0030	0.0018	.	.	.	.	.	.	0.0093	.	0	0	.	0.0042	0.0043	0.0040	0.0045	0.0060	0.0040	0.0039	0.0055	0.0053	0.0007	0.0055	0.0039	0.0003	0	0.0113	0	0.0060	0.0033	0.0041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	392.45	31	chr17	42502811	.	GGCCCCAGTCA	G	392.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.485;DP=206;ExcessHet=0;FS=1.515;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-0.454;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1177:.	6	0	1	0
chr17	42502828	42502828	A	C	exonic	ATP6V0A1	.	nonsynonymous SNV	ATP6V0A1:NM_001378534:exon18:c.A2060C:p.N687T,ATP6V0A1:NM_001378535:exon18:c.A2039C:p.N680T,ATP6V0A1:NM_001378530:exon19:c.A2162C:p.N721T	.	962	558	2	0	0	2	0.00178891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00239617	0.0032	0	0	0	0	0.0056	0	0	0.0003687	57	154602	rs558702963	0.0091	0.0002	0.0057	0.0115	.	0.0031	0.0019	.	.	.	.	.	.	0.0093	.	0	0	0	0.0042	0.0043	0.0040	0.0045	0.0060	0.0040	0.0039	0.0055	0.0053	0.0007	0.0055	0.0039	0.0003	0	0.0113	0	0.0060	0.0033	0.0041	.	.	.	0.469	0.12281	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.17	0.86624	D	.	.	.	.	.	.	.	.	.	.	.	.	0.012643635	0.00271	T	.	.	.	.	.	.	.	0.482983323606	0.47928	.	.	.	.	.	.	.	.	.	.	-0.0298709	0.47436	T	0.187484	0.82426	D	.	.	.	0.270873	0.04565	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.02012	B	.	.	2.833703	0.37365	20.5	0.70975554904476268	0.09473	0.26721	0.23074	N	AEFBI	0.031353	0.03330	N	.	.	.	.	.	.	0.0224984373890735	0.13435	0.372202	0.05800	0	0.546412	0.12157	0	0.54472	0.12158	0	0.714379	0.83352	0	.	.	5.25	3.24	0.36257	1.010000	0.29500	1.810000	0.28954	-0.156000	0.11795	1.000000	0.71638	0.943000	0.28828	0.997000	0.79791	0.1508:0.6935:0.0:0.1558	6.470	0.21205	165	0.93588	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	391.53	31	chr17	42502828	.	A	C	391.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.744;DP=191;ExcessHet=0;FS=1.515;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-0.145;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1177:.	6	0	1	0
chr17	42577674	42577674	G	A	exonic	PSMC3IP	.	nonsynonymous SNV	PSMC3IP:NM_013290:exon1:c.C13T:p.R5W,PSMC3IP:NM_016556:exon1:c.C13T:p.R5W	Ovarian dysgenesis 3, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	2114019	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.257	0.0326521873956	0.0003	0.000199681	0.0002	0.0002	8.693e-05	0	0	0.0001	0.0011	0.0010	0.0002393	37	154602	rs151097093	0.0002	0.0002	0.0002	0.0003	0.0049	0.0002	0.0002	0.0035	0.0030	0.0001	2.236e-05	0.0003	2.519e-05	0	0.0049	0.0001	0.0003	0.0010	0.0002	0.0002	0.0001	0.0003	0.0014	0.0001	0.0001	0.0007	0.0005	7.215e-05	0	0.0003	0	0	0	0.0068	0.0002	0	0.0014	0.001	0.78490	D	0.005	0.72224	D	1.0	0.90584	D	0.99	0.84481	D	0.002248	0.36929	N	0.274679	0.897353	0.81001	D	2.08	0.57402	M	0.68	0.51952	T	-2.16	0.48850	N	0.568	0.59138	-0.8311	0.53231	T	0.167	0.50518	T	10	0.31729007	0.49140	T	0.032652	0.54416	D	0.257	0.56827	.	.	0.553793491129	0.55037	0.2110262028909092	0.21018	0.657221365818	0.58688	0.727300524712	0.71112	T	0.174613	0.52390	T	-0.179836	0.23760	T	-0.109085	0.62684	T	0.127173845770672	0.15118	T	0.90141	0.65732	D	0.15966778	0.35854	0.34705496	0.60365	0.15966778	0.35853	0.34705496	0.60365	-11.455	0.82095	D	.	.	0.758	0.75408	P	.;.	.;.	4.558608	0.71814	25.7	0.99887514145259004	0.96204	0.86346	0.45608	D	ALL	0.227779	0.35154	N	0.176005562787415	0.50050	3.198712	0.121768104148344	0.45664	2.825609	0.999999999999989	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	5.02	2.99	0.33673	2.200000	0.42358	2.672000	0.33955	0.676000	0.76740	0.854000	0.30511	1.000000	0.68203	0.177000	0.21203	0.0:0.0:0.6762:0.3238	11.535	0.49883	206	0.91974	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1579.49	34	chr17	42577674	.	G	A	1579.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.956;DP=301;ExcessHet=0;FS=1.431;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-1.054;SOR=0.728	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1168	6	0	1	0
chr17	42663403	42663403	A	T	exonic	TUBG2	.	nonsynonymous SNV	TUBG2:NM_016437:exon6:c.A506T:p.Y169F,TUBG2:NM_001320509:exon7:c.A533T:p.Y178F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.489	0.0137106762245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.28772	T	0.478	0.11968	T	0.671	0.41189	P	0.254	0.39164	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.73	0.18813	N	-0.25	0.67011	T	-3.6	0.69357	D	0.601	0.61933	-0.7354	0.58689	T	0.175	0.51959	T	10	0.5852144	0.66072	D	0.013711	0.33318	T	0.489	0.77656	0.761	0.88972	0.555277862696	0.55187	0.8282417366288006	0.82782	1.27300519965	0.82327	0.852253556252	0.89953	D	0.532741	0.83859	D	0.0278228	0.55431	T	-0.197811	0.54853	T	0.936225771903992	0.60506	D	0.995811	0.98540	D	0.3641022	0.58146	0.21545279	0.46134	0.3641022	0.58147	0.21545279	0.46133	-7.917	0.60503	D	.	.	0.106	0.19679	B	.	.	2.921159	0.38776	20.8	0.98234468097585936	0.39423	0.98119	0.79760	D	AEFBCI	0.930067	0.91681	D	0.178171236370459	0.50152	3.207999	0.269958392166742	0.53793	3.546589	0.999999906500955	0.74766	0.706298	0.61202	0	0.643519	0.57511	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	9.217000	0.94299	10.989000	0.84666	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	1.0:0.0:0.0:0.0	15.707	0.77348	447	0.79583	Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2817.44	36	chr17	42663403	.	A	T	2817.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.61;DP=454;ExcessHet=0;FS=0.448;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.912;SOR=0.661	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr17	42676407	42676407	C	A	exonic	PLEKHH3	.	nonsynonymous SNV	PLEKHH3:NM_024927:exon1:c.G157T:p.G53W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.420	0.141390433106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.983	0.75793	D	0.001724	0.38161	N	0.000000	0.701873	0.30095	N	1.735	0.44892	L	-1.94	0.87352	D	-1.31	0.32791	N	0.515	0.54584	0.375	0.88720	D	0.686	0.89154	D	10	0.42787528	0.57295	T	0.14139	0.82381	D	0.420	0.72930	0.272	0.22210	0.772265227283	0.77017	0.537642351527523	0.53689	0.735765669961	0.62971	0.690444946289	0.65770	T	0.037198	0.24386	T	0.17257	0.71359	D	0.0101091	0.70989	D	0.939823687076569	0.61162	D	0.749925	0.42806	T	0.3361436	0.55970	0.384622	0.63399	0.3361436	0.55970	0.384622	0.63399	-6.118	0.47256	T	.	.	0.169	0.48282	B	.;.;.	.;.;.	4.868290	0.79736	27.2	0.99551225062559712	0.71148	0.81684	0.41038	D	ALL	0.831284	0.74985	D	0.525831287386062	0.68622	5.242633	0.528642331195756	0.69926	5.430483	0.999999999555808	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.372554	0.06265	0	.	.	4.52	4.52	0.54797	1.582000	0.36177	3.925000	0.40497	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	14.150	0.64916	349	0.85513	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	35	chr17	42676407	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,106,1089	6	1	0	0
chr17	43013785	43013785	G	A	exonic	IFI35	.	nonsynonymous SNV	IFI35:NM_001330230:exon6:c.G572A:p.R191H,IFI35:NM_005533:exon6:c.G578A:p.R193H	.	418	1059	42	3	0	48	0.0221607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	.	0.0070	0.00439297	0.0078	0.0010	0.0029	0.0002	0.0022	0.0105	0.0047	0.0106	0.0072315	1118	154602	rs146311145	0.0072	0.0072	0.0068	0.0075	0.0241	0.0070	0.0070	0.0209	0.0196	0.0009	0.0033	0.0500	0.0001	0.0031	0.0241	0.0063	0.0100	0.0119	0.0055	0.0055	0.0059	0.0051	0.0112	0.0052	0.0051	0.0088	0.0079	0.0010	0.0022	0.0033	0.0470	0	0.0017	0.0272	0.0071	0.0114	0.0112	0.474	0.11659	T	0.604	0.07842	T	0.005	0.12996	B	0.008	0.13708	B	0.804143	0.06787	N	1.087340	0.999974	0.18612	N	0.82	0.20857	L	0.85	0.47130	T	-1.65	0.42763	N	0.026	0.00770	-1.0243	0.22311	T	0.043	0.18326	T	10	0.0034869611	0.00062	T	.	.	.	0.124	0.34239	.	.	0.316198179892	0.31222	0.3796571607327325	0.37880	0.0828921084784	0.09354	0.216862440109	0.01137	T	0.006675	0.06097	T	-0.686016	0.00044	T	-0.750229	0.03477	T	0.00723688116875723	0.00083	T	0.684632	0.29288	T	0.030894008	0.02832	0.045393538	0.06098	0.030894008	0.02831	0.045393538	0.06098	-6.899	0.53292	T	.	.	0.071	0.04806	B	.;.	.;.	0.716264	0.10854	7.529	0.72552883588186612	0.10013	0.13481	0.17880	N	AEFDGBCI	0.066064	0.12918	N	-1.01362901966849	0.08320	0.3897128	-0.936659194844358	0.11234	0.5710384	0.998372640843774	0.36850	0.67177	0.52595	0	0.702456	0.74545	0	0.489635	0.07774	0	0.711	0.71501	0	.	.	5.22	-1.77	0.07551	-1.017000	0.03740	0.730000	0.21079	-0.106000	0.15538	0.000000	0.06391	0.001000	0.17328	0.241000	0.23027	0.5709:0.0:0.4291:0.0	10.510	0.44045	319	0.87030	Nmi/IFP 35 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020141	0.005051	0.012228	0.020468	0.050000	0.051724	0.024390	0.018939	0.07143	950.45	36	chr17	43013785	.	G	A	950.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.96;DP=322;ExcessHet=0;FS=5.301;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-0.867;SOR=1.164	GT:AD:DP:GQ:PL	0/0:77,0:77:99:0,120,1800	6	0	1	0
chr17	43092943	43092943	A	T	exonic	BRCA1	.	nonsynonymous SNV	BRCA1:NM_007297:exon9:c.T2447A:p.V816D,BRCA1:NM_007294:exon10:c.T2588A:p.V863D,BRCA1:NM_007300:exon10:c.T2588A:p.V863D	.	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.542	0.147648784414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.47320	D	0.245	0.30926	T	0.767	0.43786	P	0.562	0.49608	P	0.311143	0.04016	N	1.504310	0.996802	0.22896	N	2.685	0.78553	M	-1.47	0.81067	T	-5.07	0.83357	D	0.646	0.72477	-0.3993	0.72049	T	0.448	0.78360	T	10	0.41843113	0.56699	T	0.147649	0.82965	D	0.542	0.80901	0.462	0.53079	0.356897458496	0.35304	0.2077251069066062	0.20688	0.218442541837	0.24383	0.34365054965	0.16983	T	0.533375	0.83892	D	0.142934	0.68604	D	-0.0324611	0.68205	D	0.597780466079712	0.36312	D	0.845215	0.52386	T	0.38907328	0.59966	0.47057799	0.69300	0.38907328	0.59966	0.47057799	0.69301	-5.107	0.39655	T	0.2680299478088023	0.36101	0.107	0.34492	B	.;.;.;.	.;.;.;.	1.527818	0.19609	14.35	0.95962720700753978	0.28306	0.02030	0.06086	N	AEFDGBIJ	0.089275	0.18095	N	-0.748549425144952	0.14672	0.7328956	-0.907139559089903	0.11925	0.6105117	0.999999999478064	0.74766	0.744818	0.98587	0	0.724815	0.89359	0	0.724815	0.87919	0	0.76194	0.99817	0	.	.	5.15	-7.25	0.01321	-0.465000	0.06757	-0.100000	0.11953	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.1479:0.3903:0.2864:0.1753	2.816	0.05121	511	0.75131	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2234.45	92	chr17	43092943	.	A	T	2234.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.649;DP=740;ExcessHet=0;FS=5.525;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=1.98;SOR=0.393	GT:AD:DP:GQ:PL	0/0:189,0:189:99:0,120,1800	6	0	1	0
chr17	43209576	43209576	C	T	exonic	NBR1	.	nonsynonymous SNV	NBR1:NM_001291571:exon21:c.C2747T:p.S916L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00247799293091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.892e-06	2.736e-06	0	5.862e-06	5.049e-05	6.8e-07	4.6e-07	1.678e-05	9.94e-06	0	0	0	0	0	0	0	0	5.049e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	0.89	0.45636	T	.	.	.	0.231	0.25989	-1.0011	0.29602	T	0.077	0.30828	T	7	0.083803385	0.13980	T	0.002478	0.04925	T	.	.	0.34	0.33141	0.177238962908	0.17366	.	.	.	.	.	.	.	.	.	.	-0.208605	0.19577	T	-0.537423	0.18551	T	0.0225476848085301	0.00970	T	0.474053	0.14146	T	.	.	.	.	.	.	.	.	-2.953	0.09684	T	.	.	0.104	0.18705	B	.	.	0.197311	0.05827	2.267	0.68196843098406135	0.08585	0.03259	0.08291	N	AEFBI	0.040444	0.06017	N	-0.901074322236357	0.10816	0.5188141	-0.995857017767948	0.09878	0.4940473	4.44860287574638E-4	0.07004	0.475973	0.10046	0	0.601575	0.49859	0	0.463624	0.06942	0	0.221012	0.04332	2	.	.	3.12	0.668	0.17081	-0.683000	0.05280	-0.427000	0.09246	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.0:0.7932:0.0:0.2068	6.907	0.23497	505	0.75648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	601.77	31	chr17	43209576	.	C	T	601.77	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.417;DP=218;ExcessHet=0.4139;FS=125.839;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=7.72;ReadPosRankSum=0.358;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:20,0:20:0:.:.:0,0,122:.	4	0	2	1
chr17	43830127	43830127	C	T	exonic	MPP3	.	nonsynonymous SNV	MPP3:NM_001353080:exon7:c.G227A:p.R76H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.9e-05	0.000199681	8.236e-05	0	9.994e-05	0	0	0	0	0.0009	9.06e-05	14	154602	rs373720389	0.0001	0.0001	7.523e-05	0.0001	0.0013	8.771e-05	8.249e-05	0.0011	0.0010	3.321e-05	0.0001	0	2.639e-05	0	0	3.116e-05	0.0001	0.0013	5.91e-05	5.905e-05	2.57e-05	9.402e-05	0.0015	3.075e-05	2.209e-05	0.0007	0.0005	0	0	0	0	0	0	0.0034	1.47e-05	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	241.63	34	chr17	43830127	.	C	T	241.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.458;DP=195;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=1.81;SOR=0.426	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1209	6	0	1	0
chr17	44385668	44385668	C	T	exonic	ITGA2B	.	nonsynonymous SNV	ITGA2B:NM_000419:exon4:c.G457A:p.A153T	Bleeding disorder, platelet-type, 16, autosomal dominant, Autosomal dominant;Glanzmann thrombasthenia, Autosomal recessive;Thrombocytopenia, neonatal alloimmune, BAK antigen related (3)	0	1518	4	0	0	4	0.00131579	.	.	.	622443	Glanzmann_thrombasthenia|not_specified|ITGA2B-related_disorder|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:849|MedGen:CN169374|.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	reviewed_by_expert_panel	Uncertain_significance	.	.	.	.	.	.	.	.	0.456	0.284878363579	0.0002	.	0.0002	0	0	0	0	0.0003	0	0.0002	0.0001552	24	154602	rs199641871	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	2.987e-05	0.0002	3.826e-05	0	0	0.0003	0.0001	9.937e-05	8.116e-05	0.0001	0.0001	0.0001	0.0001	0.0003	9.139e-05	7.696e-05	0.0002	0.0002	2.405e-05	0	6.532e-05	0	0	0	0	0.0003	0	0	0.062	0.36912	T	0.026	0.55759	D	0.999	0.77913	D	0.968	0.71741	D	0.003523	0.34820	N	0.000000	0.999902	0.50806	D	1.87	0.49600	L	-1.94	0.84919	D	-1.51	0.36787	N	0.524	0.55366	0.484	0.90317	D	0.707	0.89940	D	10	0.62053525	0.67951	D	0.284878	0.90361	D	0.456	0.75483	.	.	0.904090970591	0.90313	0.6724900148294761	0.67187	2.03962625952	0.94218	0.511914253235	0.40490	T	0.056829	0.30398	T	-0.112996	0.34275	T	-0.105252	0.62988	T	0.764503061771393	0.44113	D	0.774123	0.40598	T	0.21411282	0.43808	0.23713428	0.49003	0.21411282	0.43808	0.23713428	0.49002	-8.445	0.64064	D	0.3219416257928513	0.42008	0.224	0.45593	B	.	.	3.874412	0.56268	23.7	0.99900229589431222	0.97199	0.93434	0.58206	D	ALL	0.553266	0.56459	D	0.595965147244658	0.72923	5.88262	0.539157938294958	0.70646	5.535965	0.999999999999847	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	5.55	5.55	0.83298	4.415000	0.59561	2.659000	0.33867	0.524000	0.24156	0.999000	0.42656	0.984000	0.30665	0.077000	0.17074	0.1729:0.8271:0.0:0.0	12.002	0.52530	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1701.46	34	chr17	44385668	.	C	T	1701.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.031;DP=321;ExcessHet=0;FS=2.262;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-1.204;SOR=0.488	GT:AD:DP:GQ:PL	0/1:62,70:132:99:1712,0,1489	6	0	1	0
chr17	44805364	44805364	T	C	exonic	GJC1	.	nonsynonymous SNV	GJC1:NM_001080383:exon3:c.A454G:p.N152D,GJC1:NM_005497:exon3:c.A454G:p.N152D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.0376121825589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.599	0.05652	T	0.619	0.07468	T	0.001	0.07471	B	0.002	0.06944	B	0.052246	0.22910	N	0.426271	0.998919	0.21801	N	0.695	0.17993	N	-3.9	0.97792	D	-0.06	0.07882	N	0.248	0.28028	-0.0795	0.80565	T	0.741	0.91152	D	10	0.10014668	0.18219	T	0.037612	0.57726	D	0.277	0.59375	0.266	0.21261	0.258436476835	0.25460	0.16119429626887868	0.16040	0.690142144812	0.60519	0.54501336813	0.45153	T	0.420695	0.77232	T	0.000404794	0.51711	T	-0.237195	0.51072	T	0.0741175189614296	0.09218	T	0.612939	0.24490	T	0.04325941	0.06709	0.047443777	0.06833	0.04325941	0.06708	0.047443777	0.06833	-2.644	0.06845	T	.	.	0.089	0.18539	B	.;.;.;.;.	.;.;.;.;.	1.995939	0.25356	16.73	0.85437644524108769	0.15892	0.63393	0.32076	D	AEFBI	0.169042	0.29585	N	-0.447040931874275	0.23840	1.283126	-0.267430920732368	0.29178	1.63267	0.945408454844075	0.27659	0.719381	0.83141	0	0.633656	0.55848	0	0.702456	0.68683	0	0.733575	0.97253	0	.	.	5.11	2.91	0.32903	4.073000	0.57290	2.909000	0.35496	-0.807000	0.03101	1.000000	0.71638	1.000000	0.68203	0.593000	0.31214	0.0:0.1642:0.0:0.8358	8.171	0.30418	407	0.82314	Connexin, N-terminal;Connexin, N-terminal;Connexin, N-terminal;Connexin, N-terminal;Connexin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1874.44	34	chr17	44805364	.	T	C	1874.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.508;DP=316;ExcessHet=0;FS=3.198;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-0.078;SOR=0.439	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1272	6	0	1	0
chr17	44904956	44904956	C	T	exonic	FAM187A	.	nonsynonymous SNV	FAM187A:NM_001258400:exon1:c.C1127T:p.S376L	.	425	1033	62	2	0	66	0.0309568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	.	0.00259585	0.0091	0.0011	0.0068	0	0	0.0013	0.0146	0.0181	0.0013713	212	154602	rs555402721	0.0023	0.0022	0.0017	0.0028	0.0176	0.0022	0.0022	0.0168	0.0165	0.0002	0.0009	0.0004	2.798e-05	0.0007	0.0114	0.0013	0.0028	0.0176	0.0016	0.0016	0.0014	0.0019	0.0172	0.0015	0.0014	0.0142	0.0131	0.0002	0	0.0023	0	0.0002	0.0004	0.0170	0.0016	0.0043	0.0172	0.465	0.08609	T	0.62	0.07444	T	0.103	0.25884	B	0.01	0.14941	B	0.369594	0.04354	N	1.395560	1	0.08975	N	1.7	0.43825	L	0.97	0.42502	T	-1.04	0.27259	N	0.175	0.18784	-1.0236	0.22541	T	0.051	0.21883	T	9	0.004670471	0.00098	T	.	.	.	0.069	0.20116	.	.	0.447609009685	0.44385	0.5473808828241131	0.54664	.	.	0.285807311535	0.08314	T	0.008464	0.07774	T	-0.616405	0.00116	T	-0.64392	0.09385	T	0.0016297578096169	0.00017	T	0.733627	0.34942	T	0.042301055	0.06391	0.033432566	0.02237	0.042301055	0.06391	0.033432566	0.02236	-2.481	0.05653	T	.	.	0.094	0.14523	B	.	.	1.401737	0.18160	13.58	0.63598281148254254	0.07266	0.13302	0.17779	N	AEFDGBHCI	.	.	.	-0.809649728053484	0.13063	0.6409545	-0.827799331297762	0.13823	0.7191289	0.999999166461778	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.54	2.32	0.27895	0.358000	0.19952	2.301000	0.32018	0.599000	0.40250	0.000000	0.06391	0.011000	0.20116	0.043000	0.14563	0.2172:0.4511:0.0:0.3317	4.057	0.09301	764	0.49969	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2202.45	41	chr17	44904956	.	C	T	2202.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.427;DP=380;ExcessHet=0;FS=0.553;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-1.068;SOR=0.778	GT:AD:DP:GQ:PL	0/1:87,91:178:99:2213,0,2100	6	0	1	0
chr17	45999344	45999344	C	T	exonic	STH	.	nonsynonymous SNV	STH:NM_001007532:exon1:c.C65T:p.P22L	.	422	1099	1	0	0	1	0.000454752	.	.	.	2206642	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.051	0.0138807730371	.	0.000199681	9.12e-05	0.0001	0.0004	0	0	3e-05	0.0011	0.0001	9.06e-05	14	154602	rs543012879	7.731e-05	7.798e-05	9.121e-05	6.326e-05	0.0014	6.533e-05	6.136e-05	0.0007	0.0005	2.987e-05	0.0002	0	0	0	0.0014	6.835e-05	9.939e-05	0.0002	3.94e-05	3.937e-05	0	8.056e-05	0.0004	1.714e-05	1.129e-05	7.304e-05	3.034e-05	2.406e-05	0	0	0	0	0	0	4.409e-05	0	0.0004	.	.	.	1.0	0.01155	T	0.753	0.43334	P	0.062	0.26930	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.41	0.57100	T	-1.5	0.36586	N	0.131	0.12627	-1.0415	0.16860	T	0.050	0.21222	T	9	0.030716151	0.01200	T	0.013881	0.33612	T	0.051	0.14325	0.424	0.46857	0.191931220699	0.18833	0.007746496077334604	0.00739	0.0482597074277	0.05275	0.268777608871	0.05982	T	0.001736	0.01158	T	-0.389282	0.02719	T	-0.527653	0.19521	T	0.0295301907056	0.01918	T	0.454355	0.12956	T	0.11448484	0.27028	0.06275866	0.12329	0.11448484	0.27027	0.06275866	0.12329	-2.803	0.08211	T	.	.	0.120	0.24800	B	.	.	0.786960	0.11572	8.165	0.82788198299631677	0.14375	0.00494	0.02336	N	AEFGBI	0.038838	0.05555	N	-1.11017974079305	0.06461	0.2975005	-1.24911471704552	0.05144	0.2444139	0.0599627944322596	0.15180	0.616025	0.39624	0	0.573888	0.26702	0	0.574621	0.27300	0	0.542086	0.14980	0	.	.	1.78	-0.58	0.11129	-0.055000	0.11763	-2.513000	0.03663	-1.098000	0.01516	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4675:0.3282:0.2043:0.0	2.536	0.04428	369	0.84396	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001027	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	1043.63	35	chr17	45999344	.	C	T	1043.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.95;DP=303;ExcessHet=0;FS=1.704;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=0.224;SOR=0.523	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1208	6	0	1	0
chr17	46555175	46555175	G	A	exonic	LRRC37A2	.	stopgain	LRRC37A2:NM_001006607:exon12:c.G4883A:p.W1628X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1349736821	8.778e-06	9.889e-06	4.792e-06	1.276e-05	1.274e-05	4.71e-06	3.44e-06	3.57e-06	2.58e-06	0	0	0	0	0	0	8.294e-06	3.863e-05	1.274e-05	3.292e-05	2.395e-05	0	7.084e-05	5.237e-05	5.46e-06	2.04e-06	8.68e-06	3.25e-06	0	0	0	0	0	0	0	5.237e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.54805	N	.	.	.	.	.	.	.	.	.	0.039	0.01421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119294	0.66301	D	-0.0664183	0.65880	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	3.389971	0.46927	22.4	0.85195194456660539	0.15743	0.00137	0.00841	N	AEFI	0.015480	0.00297	N	-0.276315027403667	0.30066	1.673016	-0.758077260106532	0.15523	0.8168678	1.78346404064638E-5	0.02871	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	2.28	-4.44	0.03308	-1.608000	0.02171	-6.099000	0.01497	-1.325000	0.01222	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5562:0.2126:0.2311:0.0	4.320	0.10452	457	0.78953	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	710.28	41	chr17	46555175	.	G	A	710.28	.	AC=1;AF=0.083;AN=12;BaseQRankSum=7.32;DP=304;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=27.26;MQRankSum=0;QD=7.25;ReadPosRankSum=0.978;SOR=0.217	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,32:98:99:0|1:46555174_T_C:720,0,1779:46555174	5	0	1	1
chr17	46872579	46872579	A	G	exonic	WNT9B	.	nonsynonymous SNV	WNT9B:NM_001320458:exon2:c.A140G:p.Q47R,WNT9B:NM_003396:exon2:c.A140G:p.Q47R	.	420	1079	20	3	0	26	0.0119048	.	.	.	1630578	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.128	.	0.0044	0.00339457	0.0075	0.0009	0.0017	0	0.0259	0.0068	0.0136	0.0167	0.0064035	990	154602	rs118185468	0.0065	0.0065	0.0063	0.0067	0.0128	0.0064	0.0063	0.0122	0.0119	0.0005	0.0018	0.0017	2.538e-05	0.0230	0.0079	0.0059	0.0059	0.0128	0.0054	0.0054	0.0048	0.0061	0.0128	0.0051	0.0050	0.0103	0.0093	0.0010	0	0.0011	0.0035	0	0.0231	0	0.0065	0.0038	0.0128	0.134	0.29688	T	0.476	0.30143	T	0.072	0.23997	B	0.023	0.19966	B	0.082512	0.20804	N	0.507715	0.858057	0.28398	N	1.895	0.50365	L	-1.39	0.80387	T	-0.69	0.19720	N	0.141	0.14763	-0.7710	0.56803	T	0.247	0.61635	T	10	0.005423963	0.00119	T	.	.	.	0.128	0.35103	.	.	0.900307032389	0.89931	0.5040463843694573	0.50326	0.299722776496	0.32340	0.550557017326	0.45935	T	0.268256	0.64036	T	-0.399512	0.02332	T	-0.334971	0.40912	T	0.00942075269797112	0.00121	T	.	.	.	0.06629579	0.14250	0.096777566	0.23008	0.06629579	0.14250	0.096777566	0.23008	-3.213	0.12640	T	.	.	0.065	0.01909	B	.;.;.	.;.;.	1.602473	0.20483	14.77	0.91943365196778426	0.21270	0.78732	0.38889	D	AEFDBI	0.143800	0.26660	N	-0.470793134273499	0.23042	1.234558	-0.423063799552568	0.24321	1.331227	0.581956077750406	0.21578	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.48	4.48	0.53973	1.500000	0.35290	5.610000	0.49052	0.751000	0.87719	0.054000	0.21560	1.000000	0.68203	0.025000	0.12405	0.8506:0.1494:0.0:0.0	11.516	0.49771	444	0.79803	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004040	0.000000	0.002717	0.000000	0.000000	0.000000	0.003067	0.026718	0.07143	850.46	34	chr17	46872579	.	A	G	850.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.416;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-1.623;SOR=0.728	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1016	6	0	1	0
chr17	47283385	47283385	T	G	exonic	ITGB3	.	nonsynonymous SNV	ITGB3:NM_000212:exon3:c.T197G:p.L66R	Bleeding disorder, platelet-type, 16, autosomal dominant, Autosomal dominant;Glanzmann thrombasthenia, Autosomal recessive;Purpura, posttransfusion (3);Thrombocytopenia, neonatal alloimmune (3)	0	1521	1	0	0	1	0.000328623	.	.	.	684682	Glanzmann_thrombasthenia|not_specified|not_provided|Abnormal_bleeding|Thrombocytopenia|ITGB3-related_disorder	MONDO:MONDO:0100326,MedGen:C0040015,OMIM:PS273800,Orphanet:849|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140|Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|.	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.630	0.15437004703	0.0016	0.00119808	0.0017	0.0002	0.0010	0	0.0029	0.0021	0.0033	0.0016	0.0017011	263	154602	rs36080296	0.0024	0.0025	0.0026	0.0023	0.0028	0.0024	0.0024	0.0027	0.0027	0.0003	0.0013	3.826e-05	0	0.0037	0.0003	0.0028	0.0014	0.0017	0.0015	0.0015	0.0016	0.0015	0.0025	0.0014	0.0013	0.0022	0.0021	0.0004	0.0011	0.0007	0	0.0002	0.0022	0	0.0025	0.0019	0.0010	0.088	0.32296	T	0.58	0.09267	T	0.998	0.73220	D	0.96	0.70309	D	0.000008	0.62929	D	0.066772	0.999999	0.58761	D	2.25	0.63811	M	-3.06	0.92457	D	-2.2	0.49519	N	0.677	0.68429	0.601	0.91912	D	0.776	0.92374	D	10	0.02309513	0.00594	T	0.15437	0.83549	D	.	.	.	.	0.96512825719	0.96475	0.9514806519857708	0.95132	1.50929627035	0.87199	0.58632171154	0.50976	T	0.760859	0.93521	D	0.107986	0.65142	D	0.377722	0.91350	D	0.0135405335548524	0.00249	T	0.537746	0.18100	T	0.5600924	0.70515	0.48985773	0.70485	0.597367	0.72550	0.38153484	0.63160	-7.067	0.54522	T	0.5780206483829551	0.64492	0.113	0.24363	B	.;.	.;.	4.509234	0.70594	25.5	0.99654188591146098	0.77505	0.98545	0.83931	D	AEFDBI	0.819445	0.74047	D	0.71502907231454	0.80619	7.334223	0.719860619696895	0.83889	8.141065	0.999999965017018	0.74766	0.706548	0.73137	0	0.614415	0.52539	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	6.252000	0.72400	5.013000	0.46685	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.22	0.65364	716	0.55970	Integrin beta N-terminal|Integrin beta subunit, VWA domain|PSI domain;Integrin beta N-terminal|Integrin beta subunit, VWA domain|PSI domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	947.44	95	chr17	47283385	.	T	G	947.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.5;DP=302;ExcessHet=0;FS=2.678;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=0.041;SOR=0.983	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr17	47361422	47361422	C	T	exonic	EFCAB13	.	stopgain	EFCAB13:NM_152347:exon10:c.C706T:p.R236X	.	431	1062	27	2	0	31	0.0143852	.	.	.	3192602	EFCAB13-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	0.0075	0.00339457	0.0077	0.0024	0.0079	0.0003	0.0065	0.0112	0.0066	0.0012	0.0076519	1183	154602	rs78865644	0.0097	0.0097	0.0098	0.0096	0.0125	0.0096	0.0095	0.0109	0.0109	0.0018	0.0083	0.0136	0.0003	0.0059	0.0125	0.0111	0.0088	0.0012	0.0077	0.0077	0.0081	0.0074	0.0124	0.0074	0.0072	0.0110	0.0104	0.0019	0.0187	0.0124	0.0147	0.0010	0.0062	0.0103	0.0106	0.0204	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.757225	0.09652	N	0.836029	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.149	0.15187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178511	0.71906	D	0.495319	0.94515	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	8.038640	0.97114	37	0.99557563353057499	0.71583	0.46490	0.27771	N	AEFDBI	0.122007	0.23694	N	0.175533014441431	0.50026	3.196723	-0.0692286709326317	0.36669	2.136995	2.63050267202011E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	3.78	1.68	0.23219	1.498000	0.35268	0.440000	0.18415	-0.257000	0.07002	0.959000	0.33545	0.000000	0.08366	0.553000	0.30245	0.221:0.6593:0.0:0.1197	4.419	0.10897	540	0.73006	.	.	.	.	.	rs78865644	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014602	0.030303	0.013587	0.017544	0.000000	0.008621	0.009146	0.003788	0.07143	637.83	68	chr17	47361422	.	C	T	637.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.157;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=1.47;SOR=0.604	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	6	0	1	0
chr17	47379200	47379200	-	A	exonic	EFCAB13	.	frameshift insertion	EFCAB13:NM_001195192:exon12:c.1242dupA:p.D415Rfs*2,EFCAB13:NM_152347:exon14:c.1530dupA:p.D511Rfs*2	.	434	1087	0	1	0	2	0.000919118	.	.	.	3208008	EFCAB13-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00199681	0.0015	0	8.711e-05	0	0	0	0.0022	0.0107	0.0012548	194	154602	rs368918546	0.0007	0.0007	0.0004	0.0010	0.0107	0.0006	0.0006	0.0101	0.0099	2.99e-05	0	0	0	0	0.0005	2.699e-06	0.0008	0.0107	0.0004	0.0004	0.0002	0.0006	0.0114	0.0003	0.0003	0.0090	0.0081	2.405e-05	0	0	0	0	0	0	0	0.0005	0.0114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1040.5	37	chr17	47379200	.	T	TA	1040.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.636;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.34;ReadPosRankSum=-0.959;SOR=0.681	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1191	6	0	1	0
chr17	48960949	48960949	C	T	exonic	GIP	.	nonsynonymous SNV	GIP:NM_004123:exon5:c.G389A:p.R130Q	.	0	1521	1	0	0	1	0.000328623	.	.	.	3977666	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.00610499777471	.	0.000199681	0.0001	0.0001	0	0	0.0003	0.0001	0	9.006e-05	6.47e-05	10	154602	rs148732781	4.185e-05	4.173e-05	4.228e-05	4.141e-05	0.0005	3.32e-05	3.009e-05	0.0001	7.546e-05	0.0002	4.534e-05	0	0	0.0002	0.0005	2.882e-05	6.635e-05	4.712e-05	3.941e-05	3.937e-05	2.571e-05	5.373e-05	0.0002	1.715e-05	1.129e-05	1.171e-05	6.25e-06	4.813e-05	0	0	0	0	0	0	4.411e-05	0	0.0002	0.133	0.26409	T	0.043	0.49942	D	0.066	0.23586	B	0.004	0.10090	B	0.114401	0.19276	N	0.508245	1	0.08975	N	1.24	0.30952	L	1.67	0.27331	T	-0.8	0.22078	N	0.131	0.12627	-1.0502	0.14341	T	0.040	0.17149	T	10	0.039033085	0.02364	T	0.006105	0.15964	T	0.021	0.04004	0.222	0.14518	0.231873229951	0.22792	0.060738083930764415	0.06013	0.0355719393333	0.03753	0.252134382725	0.03996	T	0.24657	0.61606	T	-0.483437	0.00706	T	-0.739209	0.03924	T	0.0494403654592919	0.05402	T	0.608539	0.22995	T	0.04828089	0.08389	0.0488897	0.07357	0.04828089	0.08389	0.0488897	0.07357	-3.46	0.15876	T	.	.	0.101	0.17657	B	.	.	1.796726	0.22840	15.78	0.99204552041356531	0.55381	0.01377	0.04694	N	AEFDBHCIJ	0.030116	0.02969	N	-0.915192070651791	0.10487	0.5013353	-0.952729241925247	0.10859	0.549695	0.999992552315293	0.74766	0.652421	0.48094	0	0.563428	0.19063	0	0.64067	0.45733	0	0.631631	0.49550	0	.	.	4.46	0.683	0.17162	0.243000	0.17880	0.035000	0.13787	0.595000	0.32841	0.001000	0.13787	0.000000	0.08366	0.144000	0.20092	0.0:0.4327:0.0:0.5673	5.838	0.17873	645	0.63593	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	808.49	33	chr17	48960949	.	C	T	808.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.187;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.397;SOR=0.752	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1406	6	0	1	0
chr17	49164259	49164259	C	G	exonic	B4GALNT2	.	nonsynonymous SNV	B4GALNT2:NM_001159387:exon8:c.C938G:p.T313S,B4GALNT2:NM_001159388:exon8:c.C860G:p.T287S,B4GALNT2:NM_153446:exon8:c.C1118G:p.T373S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00905834524961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	1.363e-06	0	9.005e-07	0	0	.	.	0	0	0	0	0	0	9.005e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.012	0.63918	D	0.051	0.22415	B	0.01	0.16012	B	0.043651	0.23718	N	0.430418	0.982859	0.24931	N	1.38	0.34346	L	0.09	0.61443	T	-1.57	0.37955	N	0.142	0.15046	-1.0444	0.16000	T	0.101	0.37417	T	10	0.19429311	0.35235	T	0.009058	0.23845	T	0.083	0.24192	0.431	0.48007	0.665839689757	0.66302	0.3177624200753259	0.31689	0.150928291755	0.17036	0.33778861165	0.16107	T	0.084236	0.37232	T	-0.177148	0.24162	T	-0.492237	0.23157	T	0.478669852018356	0.31849	T	0.0768923	0.00566	T	0.11201301	0.26467	0.084298044	0.19382	0.11201301	0.26466	0.084298044	0.19382	-5.455	0.43057	T	.	.	0.088	0.22282	B	.;.;.	.;.;.	0.671834	0.10401	7.126	0.95604260365254978	0.27347	0.70222	0.34502	D	AEFDBI	0.244549	0.36564	N	-0.623753760089655	0.18233	0.9449351	-0.58521827536174	0.19878	1.068504	6.53160012114403E-5	0.04366	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.58	-3.95	0.03844	0.724000	0.25624	-1.964000	0.04424	0.599000	0.40250	0.774000	0.29403	0.000000	0.08366	0.908000	0.44358	0.1123:0.2821:0.2232:0.3824	1.752	0.02793	453	0.79178	.;.;Glycosyltransferase 2-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	995.83	58	chr17	49164259	.	C	G	995.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.506;DP=291;ExcessHet=0;FS=3.139;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.945;SOR=1.097	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	6	0	1	0
chr17	50465849	50465849	C	T	exonic	CHAD	.	nonsynonymous SNV	CHAD:NM_001267:exon2:c.G796A:p.G266S	.	436	1085	1	0	0	1	0.000460617	.	.	.	2367580	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.292	0.0136850351966	.	0.000199681	8.237e-06	0	8.637e-05	0	0	0	0	0	1.29e-05	2	154602	rs185669452	1.779e-05	1.779e-05	1.77e-05	1.788e-05	0.0009	1.237e-05	1.051e-05	0.0003	0.0003	0.0005	2.236e-05	0	0	0	0.0009	0	4.967e-05	0	0.0001	0.0001	0.0001	9.442e-05	0.0003	6.529e-05	5.337e-05	0.0002	0.0002	0.0003	0	6.564e-05	0	0	0	0	0	0.0005	0	0.008	0.58626	D	0.171	0.30339	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.195	0.30194	L	3.63	0.04353	T	-4.1	0.74900	D	0.432	0.47301	-1.1912	0.00229	T	0.043	0.18576	T	10	0.38955295	0.54791	T	0.013685	0.33266	T	0.292	0.61157	.	.	0.718586594058	0.71611	0.6160838301256968	0.61540	1.20088527153	0.80543	0.725880682468	0.70905	T	0.205932	0.56513	T	0.0463719	0.57874	T	-0.0883011	0.64289	T	0.987503111362457	0.77986	D	0.883312	0.60567	D	0.7793842	0.82616	0.57680494	0.75480	0.7793842	0.82618	0.57680494	0.75480	-5.803	0.44600	T	.	.	0.537	0.66709	A	.;.	.;.	4.908930	0.80750	27.4	0.99892228817636042	0.96589	0.98109	0.79674	D	AEFDGBI	0.891217	0.82698	D	0.699320229247643	0.79588	7.109398	0.686082269720067	0.81322	7.499498	0.999999999982794	0.74766	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	4.97	4.97	0.65419	5.775000	0.68569	7.660000	0.64180	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.424	0.90551	894	0.26265	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	66.44	35	chr17	50465849	.	C	T	66.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.524;DP=221;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=1.04;SOR=1.179	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1241	6	0	1	0
chr17	50478948	50478948	C	T	exonic	RSAD1	.	nonsynonymous SNV	RSAD1:NM_018346:exon1:c.C64T:p.R22C	.	439	1081	1	1	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.0466903678352	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs758844128	3.233e-06	2.394e-05	4.755e-06	1.649e-06	3.962e-06	7.6e-07	5.1e-07	9.3e-07	6.3e-07	0	0	0	0	0	0	3.962e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.058	0.46182	T	0.0	0.02946	B	0.0	0.01387	B	0.844466	0.09009	N	0.914854	0.996467	0.23006	N	1.78	0.46185	L	1.91	0.23283	T	-0.86	0.23372	N	0.151	0.15469	-1.0137	0.25752	T	0.030	0.13067	T	10	0.080242366	0.13003	T	0.04669	0.62573	D	0.039	0.10176	0.441	0.49648	0.1749357433	0.17121	0.416535963483403	0.41569	0.395769569949	0.40707	0.700825691223	0.67263	T	0.033476	0.22931	T	-0.256208	0.13347	T	-0.605801	0.12328	T	0.561300544472224	0.34904	D	0.648035	0.25918	T	0.17721921	0.38676	0.11818205	0.28530	0.17721921	0.38676	0.11818205	0.28529	-5.392	0.40842	T	.	.	0.217	0.44643	B	.	.	3.563424	0.50150	22.9	0.99478889693727701	0.66741	0.03706	0.08988	N	ALL	0.056938	0.10566	N	-0.660175678527007	0.17165	0.8809153	-0.550089717584652	0.20803	1.122534	1.0	0.98316	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.241949	0.04745	2	.	.	5.0	1.4	0.21393	0.321000	0.19306	1.630000	0.27734	0.499000	0.22661	0.216000	0.24491	0.020000	0.20764	0.512000	0.29290	0.0:0.6016:0.0:0.3984	5.473	0.15973	896	0.25515	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	181.27	15	chr17	50478948	.	C	T	181.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.828;DP=123;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=0.083;SOR=0.551	GT:AD:DP:GQ:PL	0/0:32,0:32:90:0,90,1350	5	0	1	1
chr17	50539245	50539245	T	C	exonic	EPN3	.	nonsynonymous SNV	EPN3:NM_017957:exon5:c.T821C:p.V274A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.002299916849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.762	0.03461	T	0.801	0.04091	T	0.0	0.02946	B	0.001	0.04355	B	0.281288	0.03835	N	1.500450	1	0.08975	N	-0.55	0.02420	N	2.63	0.12884	T	0.23	0.04613	N	0.091	0.06990	-0.9748	0.36170	T	0.055	0.23224	T	10	0.055235207	0.06004	T	0.002	0.04424	T	0.020	0.03691	.	.	0.141422826196	0.13715	0.14969104821891913	0.14891	0.197257778843	0.22098	0.30322059989	0.10883	T	0.038043	0.24699	T	-0.378428	0.03187	T	-0.781362	0.02412	T	0.0261142328381538	0.01421	T	0.361264	0.08331	T	0.023051906	0.01012	0.03291505	0.02102	0.023051906	0.01012	0.03291505	0.02102	-2.364	0.04917	T	.	.	0.064	0.06525	B	.;.	.;.	-0.866079	0.00983	0.039	0.37470179724221536	0.02471	0.00776	0.03192	N	AEFGBI	0.060362	0.11466	N	-1.64135893924676	0.01072	0.04652118	-1.75333250922679	0.00921	0.04119388	0.999999998344972	0.74766	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.12	-8.25	0.00899	-1.906000	0.01681	-0.726000	0.07683	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6395:0.2285:0.132	12.100	0.53077	941	0.13089	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	806.49	34	chr17	50539245	.	T	C	806.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.18;DP=249;ExcessHet=0;FS=2.056;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-1.005;SOR=0.895	GT:AD:DP:GQ:PL	0/1:31,34:65:99:817,0,680	6	0	1	0
chr17	50548440	50548440	A	G	exonic	SPATA20	.	nonsynonymous SNV	SPATA20:NM_001258372:exon2:c.A235G:p.N79D,SPATA20:NM_001258373:exon3:c.A103G:p.N35D,SPATA20:NM_022827:exon3:c.A283G:p.N95D	.	414	1083	25	0	0	25	0.0114103	.	.	.	2811471	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.470	0.0361846041077	0.0039	0.00359425	0.0042	0.0007	0.0029	0	0.0008	0.0059	0.0056	0.0040	0.0042432	656	154602	rs145670888	0.0049	0.0049	0.0049	0.0049	0.0184	0.0048	0.0047	0.0155	0.0145	0.0011	0.0033	0.0133	7.557e-05	0.0009	0.0184	0.0051	0.0057	0.0043	0.0040	0.0040	0.0043	0.0037	0.0052	0.0037	0.0036	0.0048	0.0046	0.0010	0.0504	0.0043	0.0161	0	0.0005	0.0272	0.0052	0.0057	0.0039	0.0	0.91255	D	0.0	0.92824	D	0.998	0.77913	D	0.988	0.78936	D	0.000000	0.84330	D	0.000000	0.999889	0.50402	D	3.015	0.86134	M	0.83	0.47815	T	-4.6	0.78976	D	0.709	0.71676	-0.3887	0.72383	T	0.253	0.62337	T	10	0.017895311	0.00385	T	0.036185	0.56830	D	0.470	0.76421	.	.	0.690399711728	0.68774	0.6965168757279541	0.69592	0.839685681929	0.67980	0.645402669907	0.59331	T	0.312235	0.68407	T	-0.303972	0.08289	T	-0.207077	0.53973	T	0.0526040994866846	0.05951	T	0.988539	0.96067	D	0.8381297	0.86475	0.7514801	0.85310	0.8381297	0.86477	0.7514801	0.85311	-12.059	0.86042	D	.	.	0.740	0.75209	P	.;.;.;.	.;.;.;.	4.294546	0.65523	24.8	0.99748116948115517	0.84002	0.93535	0.58482	D	AEFDBI	0.598197	0.59169	D	0.70968945048669	0.80268	7.256726	0.626845165808188	0.76896	6.576254	0.999999816269473	0.74766	0.732398	0.92422	0	0.643519	0.57511	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.59	4.59	0.56297	5.788000	0.68670	8.006000	0.76170	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.9195:0.0:0.0805:0.0	10.322	0.42957	944	0.12746	.;.;Domain of unknown function DUF255;Domain of unknown function DUF255	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014602	0.010101	0.023098	0.014620	0.000000	0.034483	0.003049	0.011364	0.07143	2858.44	33	chr17	50548440	.	A	G	2858.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.043;DP=462;ExcessHet=0;FS=2.875;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-1.37;SOR=0.901	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1262	6	0	1	0
chr17	53824436	53824436	G	A	exonic	KIF2B	.	nonsynonymous SNV	KIF2B:NM_032559:exon1:c.G1403A:p.G468E	.	430	1073	19	0	0	19	0.00877598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595	.	0.0045	0.00299521	0.0068	0.0008	0.0015	0	0.0183	0.0081	0.0111	0.0077	0.0062806	971	154602	rs116955880	0.0052	0.0052	0.0050	0.0053	0.0069	0.0051	0.0050	0.0061	0.0059	0.0006	0.0025	0.0205	0	0.0178	0.0069	0.0045	0.0058	0.0065	0.0054	0.0054	0.0048	0.0060	0.0054	0.0051	0.0050	0.0049	0.0047	0.0010	0.0351	0.0029	0.0199	0	0.0221	0.0068	0.0054	0.0033	0.0052	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000360	0.45440	D	0.000000	1	0.81001	D	3.16	0.88528	M	2.15	0.19311	T	-6.88	0.93217	D	0.872	0.86941	-0.9210	0.45417	T	0.123	0.42568	T	10	0.01529488	0.00321	T	.	.	.	0.595	0.83911	.	.	0.785192115575	0.78320	0.48270145997477754	0.48190	0.574742739539	0.53493	0.604172229767	0.53493	T	0.481495	0.81004	T	-0.0579693	0.43226	T	0.14782	0.80047	D	0.0499396089668845	0.05490	T	0.985551	0.95064	D	0.9738244	0.98605	0.9704506	0.99484	0.9738244	0.98605	0.9704506	0.99485	-8.791	0.66342	D	.	.	0.215	0.44475	B	.	.	4.982468	0.82536	27.8	0.99815846560092891	0.89885	0.96907	0.71592	D	AEFBCI	0.923341	0.89967	D	0.962343616817941	0.94462	12.77724	0.945775358127899	0.97275	15.86231	0.999999884424289	0.74766	0.525926	0.21836	0	0.573888	0.26702	0	0.573888	0.23631	0	0.584449	0.35598	0	.	.	5.73	5.73	0.89730	10.003000	0.99689	6.631000	0.56152	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.258	0.93940	888	0.27761	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.006793	0.000000	0.050000	0.000000	0.006098	0.018939	0.07143	958.25	37	chr17	53824436	.	G	A	958.25	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.619;DP=319;ExcessHet=0;FS=1.717;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=1.46;SOR=0.483	GT:AD:DP:GQ:PL	0/1:48,37:85:99:954,0,1446	6	0	1	0
chr17	54968388	54968388	C	T	exonic	COX11	.	nonsynonymous SNV	COX11:NM_001162861:exon1:c.G259A:p.E87K,COX11:NM_001162862:exon1:c.G259A:p.E87K,COX11:NM_001321518:exon1:c.G259A:p.E87K,COX11:NM_004375:exon1:c.G259A:p.E87K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0543995333637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.473	0.08408	T	0.426	0.17910	T	0.006	0.19556	B	0.003	0.19966	B	0.059023	0.22355	N	0.534882	0.852843	0.35252	D	0.805	0.20218	L	0.95	0.44065	T	-0.62	0.18248	N	0.223	0.26717	-1.0153	0.25240	T	0.083	0.32642	T	10	0.13325772	0.25362	T	0.054	0.65844	D	0.090	0.26093	0.364	0.37036	0.432266382184	0.42845	0.5453458268931943	0.54460	0.748988941074	0.63666	0.5486317873	0.45665	T	0.205984	0.56519	T	-0.205222	0.20057	T	-0.532563	0.19032	T	0.454651534557343	0.30968	T	0.816518	0.49766	T	0.32208198	0.54815	0.19512352	0.43173	0.32208198	0.54815	0.19512352	0.43172	-5.444	0.41340	T	.	.	0.102	0.30184	B	.;.;.	.;.;.	2.532395	0.32744	19.13	0.92282619947588573	0.21669	0.82390	0.41625	D	ALL	0.337043	0.43497	N	-0.549964897527483	0.20484	1.080203	-0.418906649724785	0.24443	1.338467	0.999999999999942	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.02	4.06	0.46572	3.192000	0.50690	2.559000	0.33304	-0.186000	0.09761	1.000000	0.71638	1.000000	0.68203	0.060000	0.15972	0.0:0.9187:0.0:0.0813	12.529	0.55448	856	0.34373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	69.63	42	chr17	54968388	.	C	T	69.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.955;DP=274;ExcessHet=0;FS=28.587;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.16;ReadPosRankSum=-0.535;SOR=4.975	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,99,1485:.	6	0	1	0
chr17	56499059	56499059	C	T	exonic	ANKFN1	.	nonsynonymous SNV	ANKFN1:NM_001365758:exon20:c.C2401T:p.P801S,ANKFN1:NM_001370326:exon20:c.C2605T:p.P869S	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00379393	0.0004	0.0095	0	0	0	0	0	0	0.0002393	37	154602	rs112806328	0.0003	0.0003	0.0003	0.0003	0.0096	0.0003	0.0003	0.0087	0.0084	0.0096	0.0003	0	0	0	0.0004	5.563e-06	0.0015	8.836e-05	0.0025	0.0025	0.0025	0.0024	0.0084	0.0023	0.0022	0.0077	0.0074	0.0084	0	0.0014	0	0	0	0	0	0.0019	0.0002	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	0.980205	0.25129	N	.	.	.	1.77	0.25841	T	.	.	.	0.138	0.13626	.	.	.	.	.	.	.	0.0051231086	0.00111	T	.	.	.	.	.	.	.	0.692761960973	0.69012	.	.	.	.	.	.	.	0.003203	0.02606	T	-0.651391	0.00071	T	-0.701347	0.05753	T	.	.	.	0.829317	0.49436	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00496	B	.	.	1.163503	0.15528	11.91	0.28455511415991608	0.01462	0.45134	0.27471	N	AEFI	0.043069	0.06762	N	.	.	.	.	.	.	3.73683285602551E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.58	2.17	0.26736	3.108000	0.50029	2.854000	0.35159	-0.181000	0.10308	0.997000	0.40164	1.000000	0.68203	0.995000	0.73285	0.0:0.265:0.1688:0.5662	4.355	0.10610	62	0.97349	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	669.83	36	chr17	56499059	.	C	T	669.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.929;DP=207;ExcessHet=0;FS=1.754;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.75;ReadPosRankSum=0.691;SOR=1.244	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1405	6	0	1	0
chr17	57106299	57106299	C	A	exonic	AKAP1	.	nonsynonymous SNV	AKAP1:NM_001370424:exon2:c.C835A:p.L279M,AKAP1:NM_001370426:exon2:c.C835A:p.L279M,AKAP1:NM_003488:exon2:c.C835A:p.L279M,AKAP1:NM_001242902:exon3:c.C835A:p.L279M,AKAP1:NM_001242903:exon3:c.C835A:p.L279M,AKAP1:NM_001370423:exon3:c.C835A:p.L279M,AKAP1:NM_001370425:exon3:c.C835A:p.L279M,AKAP1:NM_001370427:exon3:c.C835A:p.L279M	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.0231336187562	7.7e-05	.	8.242e-05	9.621e-05	8.639e-05	0	0	5.999e-05	0	0.0002	6.47e-05	10	154602	rs369506994	1.847e-05	1.847e-05	1.225e-05	2.475e-05	0.0002	1.265e-05	1.084e-05	0.0001	9.45e-05	0	0	0	0	0	0	9.892e-06	0	0.0002	1.97e-05	1.968e-05	1.285e-05	2.687e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.94e-05	0	0	0.171	0.22746	T	0.212	0.46632	T	0.278	0.32022	B	0.07	0.27859	B	0.497416	0.11989	N	0.777902	1	0.08975	N	1.87	0.49600	L	2.26	0.21291	T	-0.38	0.13805	N	0.131	0.14338	-1.0482	0.14903	T	0.048	0.20632	T	10	0.08365151	0.13936	T	0.023134	0.46083	T	0.024	0.04979	.	.	0.46560685065	0.46186	0.09473865785239671	0.09405	0.28981236803	0.31388	0.317450076342	0.13035	T	0.092653	0.39049	T	-0.424639	0.01599	T	-0.551549	0.17178	T	0.0446492279780526	0.04539	T	0.510849	0.25328	T	0.064271055	0.13619	0.04192242	0.04877	0.064271055	0.13618	0.04192242	0.04877	-4.74	0.35248	T	.	.	0.095	0.20508	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.173043	0.15627	11.99	0.98926564077539314	0.48657	0.82739	0.41926	D	AEFDBI	0.136524	0.25722	N	-0.417667382720664	0.24850	1.344714	-0.434593273863318	0.23988	1.311179	0.999246672420294	0.38873	0.732398	0.92422	0	0.724815	0.89359	0	0.698795	0.65105	0	0.727631	0.95156	0	.	.	5.72	2.16	0.26663	0.899000	0.28049	0.829000	0.21929	0.599000	0.40250	0.747000	0.29101	0.011000	0.20116	0.016000	0.10718	0.0:0.6989:0.1366:0.1645	8.008	0.29497	67	0.97183	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1110.44	100	chr17	57106299	.	C	A	1110.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.365;DP=431;ExcessHet=0;FS=0.743;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=1.1;SOR=0.79	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1258	6	0	1	0
chr17	57849279	57849279	G	T	exonic	MRPS23	.	nonsynonymous SNV	MRPS23:NM_016070:exon2:c.C176A:p.P59H	.	432	1064	24	2	0	28	0.012987	.	.	.	1521760	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.074	.	0.0007	0.00678914	0.0066	0.0003	0.0013	0.0002	0.0006	0.0009	0.0088	0.0432	0.0056468	873	154602	rs138577447	0.0032	0.0032	0.0020	0.0045	0.0428	0.0031	0.0031	0.0417	0.0412	0.0003	0.0013	0.0001	0.0001	0.0007	0.0050	0.0006	0.0036	0.0428	0.0018	0.0018	0.0011	0.0026	0.0404	0.0016	0.0016	0.0358	0.0340	0.0002	0	0.0007	0	0.0002	0.0004	0	0.0007	0.0033	0.0404	0.072	0.34982	T	0.12	0.37589	T	0.53	0.37698	P	0.34	0.42389	B	0.003934	0.00993	N	2.515440	1	0.08975	N	2.14	0.59869	M	.	.	.	-3.22	0.64939	D	0.226	0.26233	-0.8943	0.48549	T	0.124	0.42715	T	9	0.0032068193	0.00054	T	.	.	.	0.074	0.21613	.	.	0.177238962908	0.17366	0.40213195719202327	0.40129	0.205357618407	0.22955	0.246498137712	0.03408	T	0.202903	0.56122	T	-0.56619	0.00233	T	-0.553934	0.16949	T	0.0441978682095403	0.04457	T	0.30107	0.05662	T	0.14598365	0.33438	0.14489195	0.34383	0.122028075	0.28682	0.14489195	0.34382	-4.749	0.33991	T	.	.	0.093	0.14015	B	.;.	.;.	1.153333	0.15417	11.83	0.98240022129641202	0.39476	0.03693	0.08968	N	AEFDGBHCI	0.046271	0.07664	N	-0.581543404306759	0.19506	1.021385	-0.734924336193929	0.16093	0.8497054	0.999999999997814	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.86	-5.03	0.02751	-0.567000	0.06007	-1.492000	0.05317	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.947000	0.49155	0.2879:0.0:0.1395:0.5726	5.718	0.17242	131	0.94738	Ribosomal protein S23/S25, mitochondrial;Ribosomal protein S23/S25, mitochondrial	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008560	0.005051	0.001359	0.008772	0.000000	0.000000	0.006098	0.030303	0.07143	577.45	35	chr17	57849279	.	G	T	577.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.697;DP=229;ExcessHet=0;FS=5.608;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=1.11;SOR=0.993	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1248	6	0	1	0
chr17	57849289	57849289	C	T	exonic	MRPS23	.	nonsynonymous SNV	MRPS23:NM_016070:exon2:c.G166A:p.A56T	.	431	1082	9	0	0	9	0.00414174	.	.	.	2907307	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.027	0.00589887765943	0.0002	.	0.0007	0	0	0	0	0.0007	0.0022	0.0020	0.0005886	91	154602	rs149290593	0.0006	0.0006	0.0005	0.0006	0.0018	0.0005	0.0005	0.0016	0.0015	0	0.0001	0.0043	0	0	0.0012	0.0004	0.0007	0.0018	0.0004	0.0004	0.0003	0.0004	0.0008	0.0003	0.0003	0.0003	0.0003	2.405e-05	0	0.0001	0.0040	0	0	0.0034	0.0005	0.0005	0.0008	0.188	0.21304	T	0.425	0.13912	T	0.711	0.42090	P	0.264	0.39629	B	0.000639	0.42799	D	0.265315	0.512619	0.31831	D	2.175	0.60977	M	.	.	.	-0.82	0.22508	N	0.198	0.22098	-0.8851	0.49349	T	0.093	0.35363	T	9	0.009046525	0.00205	T	0.005899	0.15371	T	0.027	0.05988	.	.	0.42538462244	0.42159	0.4361992380045958	0.43536	0.194094060147	0.21745	0.412172347307	0.26758	T	0.020394	0.16063	T	-0.458487	0.01005	T	-0.450376	0.27656	T	0.0235781740017808	0.01093	T	0.687931	0.30167	T	0.07098471	0.15680	0.07776562	0.17356	0.08269517	0.19061	0.07897474	0.17737	-3.181	0.12250	T	.	.	0.102	0.18206	B	.;.	.;.	2.916566	0.38706	20.8	0.99894193891930172	0.96742	0.62965	0.31943	D	AEFDGBHCI	0.072144	0.14389	N	0.147367657306187	0.48689	3.077984	0.245644909185354	0.52402	3.41525	0.999999999999146	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.86	4.89	0.63387	1.904000	0.39498	2.610000	0.33572	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.8358:0.0:0.1641	9.168	0.36227	131	0.94738	Ribosomal protein S23/S25, mitochondrial;Ribosomal protein S23/S25, mitochondrial	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.008772	0.000000	0.008621	0.006098	0.000000	0.07143	1410.45	35	chr17	57849289	.	C	T	1410.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.768;DP=298;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=0.135;SOR=0.689	GT:AD:DP:GQ:PL	0/1:55,63:118:99:1421,0,1397	6	0	1	0
chr17	57873709	57873709	G	T	exonic	CUEDC1	.	nonsynonymous SNV	CUEDC1:NM_001271875:exon4:c.C473A:p.A158E,CUEDC1:NM_001292025:exon4:c.C473A:p.A158E	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00796358971848	.	.	5.995e-05	0	8.658e-05	0	0	9.176e-05	0	0	4.53e-05	7	154602	rs199516462	6.701e-05	6.772e-05	7.212e-05	6.183e-05	0.0005	5.607e-05	5.211e-05	0.0001	7.679e-05	0	9.839e-05	0	0	0	0.0005	7.844e-05	5.072e-05	0	6.572e-05	6.567e-05	7.709e-05	5.381e-05	0.0001	3.517e-05	2.617e-05	5.843e-05	4.24e-05	4.826e-05	0	0	0	0	0	0	0.0001	0	0	0.942	0.02186	T	0.958	0.46632	T	0.259	0.31472	B	0.061	0.26820	B	0.000082	0.51296	D	0.169570	0.991877	0.23969	N	0.895	0.22405	L	1.89	0.30937	T	-0.85	0.23156	N	0.133	0.18512	-0.9803	0.34932	T	0.029	0.12673	T	10	0.028013557	0.00938	T	0.007964	0.21110	T	0.067	0.19503	0.155	0.05858	0.128392430309	0.12331	0.48511435177826606	0.48431	0.522226386819	0.49958	0.455611199141	0.32711	T	0.007866	0.07247	T	-0.445548	0.01200	T	-0.629466	0.10456	T	0.0364829421221	0.03065	T	0.184082	0.02912	T	0.061074145	0.12605	0.10440012	0.25074	0.061074145	0.12605	0.10440012	0.25073	-4.002	0.23834	T	.	.	0.125	0.30555	B	.;.;.;.;.	.;.;.;.;.	0.256774	0.06355	2.819	0.22481538846736329	0.00906	0.25210	0.22630	N	AEFGBCI	0.253665	0.37312	N	-1.47625938255765	0.02018	0.08869677	-1.43364729132227	0.02921	0.1353139	0.999999426058957	0.74766	0.653281	0.48532	0	0.610034	0.51514	0	0.675528	0.61593	0	0.721622	0.92947	0	.	.	5.62	2.18	0.26813	2.707000	0.46812	4.105000	0.41886	-2.201000	0.00355	0.158000	0.23769	0.182000	0.23429	0.000000	0.00833	0.7905:0.0:0.2095:0.0	8.838	0.34282	121	0.95159	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	621.63	39	chr17	57873709	.	G	T	621.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.797;DP=234;ExcessHet=0;FS=0.968;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=0.195;SOR=0.551	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1230	6	0	1	0
chr17	58203086	58203086	A	T	exonic	EPX	.	nonsynonymous SNV	EPX:NM_000502:exon11:c.A1714T:p.N572Y	.	1	1414	102	5	0	112	0.0380952	.	.	.	704251	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.714	.	0.0052	0.0131789	0.0097	0.0010	0.0026	0.0404	0.0005	0.0057	0.0100	0.0242	0.0090426	1398	154602	rs2302311	0.0072	0.0072	0.0066	0.0079	0.0356	0.0071	0.0071	0.0341	0.0335	0.0011	0.0028	0.0041	0.0356	0.0005	0.0262	0.0055	0.0089	0.0238	0.0060	0.0060	0.0057	0.0064	0.0363	0.0057	0.0056	0.0320	0.0304	0.0013	0.0175	0.0037	0.0063	0.0363	0.0005	0.0136	0.0064	0.0052	0.0255	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.81110	D	0.000087	0.51296	D	0.229393	0.999894	0.50595	D	3.395	0.91620	M	-0.89	0.74793	T	-7.26	0.94377	D	0.855	0.85132	0.222	0.86286	D	0.428	0.77055	T	10	0.011209935	0.00246	T	.	.	.	0.714	0.89831	.	.	0.907641921367	0.90672	0.9397424012326949	0.93955	0.60966715383	0.55685	0.618428587914	0.55507	T	0.73717	0.92690	D	0.0215653	0.54591	T	0.293971	0.87906	D	0.0441071641916809	0.04439	T	0.918408	0.70674	D	0.93080324	0.94318	0.9297195	0.97075	0.91762865	0.93020	0.9297195	0.97076	-10.78	0.78437	D	0.6057418395158497	0.67300	0.721	0.73813	P	.	.	4.624316	0.73463	26.0	0.9931117169918775	0.59017	0.98284	0.81251	D	AEFDHI	0.846482	0.76336	D	0.902057263412658	0.91858	11.10306	0.8354303646208	0.92136	11.25628	0.995667577349472	0.34254	0.533608	0.22052	0	0.593476	0.48661	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	5.83	5.83	0.93059	5.936000	0.69869	9.239000	0.79409	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	14.155	0.64945	569	0.70546	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.022659	0.010101	0.013587	0.020468	0.000000	0.025862	0.036585	0.037879	0.2143	1365.72	34	chr17	58203086	.	A	T	1365.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.24;DP=244;ExcessHet=1.1394;FS=3.788;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.122;SOR=1.164	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1084	4	0	3	0
chr17	58304395	58304395	G	T	exonic	TSPOAP1	.	nonsynonymous SNV	TSPOAP1:NM_024418:exon30:c.C5369A:p.T1790K,TSPOAP1:NM_001261835:exon31:c.C5522A:p.T1841K,TSPOAP1:NM_004758:exon31:c.C5549A:p.T1850K	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0194287052185	.	.	.	.	.	.	.	.	.	.	.	.	.	rs201347578	6.845e-07	6.841e-07	1.362e-06	0	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	6.573e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.212	0.26549	T	0.688	0.41582	P	0.148	0.34065	B	.	.	.	.	1	0.81001	D	2.075	0.57047	M	3.66	0.04267	T	-0.95	0.25332	N	0.399	0.43995	-0.8433	0.52426	T	0.009	0.03271	T	9	0.14831519	0.28089	T	0.019429	0.41790	T	0.031	0.07369	0.28	0.23483	0.323886383625	0.31992	0.42843843382245383	0.42760	0.32203709392	0.34400	0.539078474045	0.44316	T	0.012092	0.10690	T	-0.153484	0.27767	T	-0.458246	0.26790	T	0.437036510258988	0.30320	T	0.751925	0.37414	T	0.15880954	0.35708	0.15426868	0.36213	0.15880954	0.35708	0.15426868	0.36213	-3.224	0.12776	T	.	.	0.175	0.39832	B	.;.;.	.;.;.	2.270407	0.29022	17.99	0.97295524277120793	0.33252	0.32541	0.24610	N	AEFDGBHCI	0.336285	0.43445	N	-0.239186249697593	0.31538	1.769379	-0.169628029975739	0.32661	1.860363	0.999999999997169	0.74766	0.696267	0.57585	0	0.637152	0.57089	0	0.459711	0.06710	0	0.691587	0.68394	0	.	.	5.22	0.387	0.15484	0.449000	0.21459	-0.347000	0.09772	0.604000	0.46097	1.000000	0.71638	0.003000	0.18671	0.999000	0.91618	0.3659:0.1939:0.4403:0.0	3.519	0.07294	310	0.87484	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	127.25	34	chr17	58304395	.	G	T	127.25	.	AC=2;AF=0.143;AN=14;DP=227;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=21.21;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1167	6	1	0	0
chr17	59697918	59697918	C	T	exonic	PTRH2	.	nonsynonymous SNV	PTRH2:NM_016077:exon2:c.G61A:p.V21I,PTRH2:NM_001015509:exon3:c.G64A:p.V22I	Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, Autosomal recessive	431	1080	11	0	0	11	0.00506679	.	.	.	506067	not_provided|PTRH2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.070	0.00244028910284	0.0044	0.00219649	0.0042	0.0013	0.0025	0	0.0030	0.0063	0.0044	0.0014	0.0042626	659	154602	rs76310651	0.0051	0.0051	0.0053	0.0049	0.0160	0.0050	0.0050	0.0133	0.0123	0.0013	0.0030	0.0079	0	0.0040	0.0160	0.0057	0.0051	0.0015	0.0037	0.0037	0.0040	0.0033	0.0058	0.0034	0.0033	0.0054	0.0052	0.0011	0	0.0025	0.0066	0	0.0033	0.0170	0.0058	0.0057	0.0004	0.488	0.16793	T	0.288	0.21745	T	0.004	0.12183	B	0.003	0.08700	B	0.001459	0.38980	N	0.208574	0.999993	0.08975	N	0.895	0.22405	L	.	.	.	-0.37	0.13226	N	0.085	0.06190	-1.0746	0.08431	T	0.062	0.25744	T	9	0.007870734	0.00179	T	0.00244	0.04813	T	0.070	0.20419	.	.	0.372268306217	0.36840	0.1265693023315766	0.12582	0.0581026810352	0.06437	0.262676328421	0.05213	T	0.067176	0.33134	T	-0.536542	0.00351	T	-0.538355	0.18459	T	0.00313176158227098	0.00033	T	0.675332	0.28377	T	0.036266107	0.04428	0.044291425	0.05704	0.05368025	0.10194	0.058567204	0.10842	-4.129	0.25716	T	0.0901838421480545	0.05590	0.087	0.11558	B	.;.;.	.;.;.	1.796192	0.22833	15.78	0.87380798241664726	0.17186	0.97270	0.73702	D	AEFDBCI	0.312492	0.41791	N	-0.722503969275306	0.15390	0.7751858	-0.524870272630976	0.21479	1.162126	0.999999993744599	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.741806	0.99463	0	.	.	5.58	4.61	0.56724	3.747000	0.54853	5.989000	0.52298	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.654000	0.32802	0.0:0.8705:0.0:0.1295	15.415	0.74686	547	0.72440	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020141	0.015152	0.031250	0.023392	0.100000	0.008621	0.009146	0.000000	0.07143	1892.45	34	chr17	59697918	.	C	T	1892.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.387;DP=356;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.394;SOR=0.703	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1206	6	0	1	0
chr17	61456662	61456662	G	A	exonic	TBX4	.	nonsynonymous SNV	TBX4:NM_018488:exon1:c.G172A:p.A58T,TBX4:NM_001321120:exon2:c.G172A:p.A58T	Ischiocoxopodopatellar syndrome, Autosomal dominant	26	1495	1	0	0	1	0.000334336	.	.	.	329217	Coxopodopatellar_syndrome	MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.193	0.265865077748	.	0.000399361	0.0008	0	0	0	.	0	0	0.0012	5.82e-05	9	154602	rs575407008	6.157e-05	0.0001	3.246e-05	9.219e-05	0.0014	5.017e-05	4.595e-05	0.0011	0.0010	0	0	0	3.798e-05	0	0.0003	2.035e-06	6.197e-05	0.0014	5.919e-05	5.906e-05	5.146e-05	6.727e-05	0.0017	3.08e-05	2.212e-05	0.0008	0.0006	2.408e-05	0	0	0	0	0	0	0	0	0.0017	0.154	0.24277	T	0.416	0.14284	T	0.0	0.02946	B	0.0	0.01387	B	0.089779	0.20410	N	0.541272	1	0.08975	N	0	0.06538	N	-2.06	0.85875	D	-0.18	0.09796	N	0.176	0.19459	-0.9280	0.44429	T	0.257	0.62710	T	9	0.017256826	0.00367	T	0.265865	0.89689	D	0.193	0.47281	0.405	0.43738	0.549036597592	0.54559	0.26727736705973515	0.26640	0.388830014822	0.40140	0.752959191799	0.74883	T	0.072455	0.34457	T	-0.0948661	0.37271	T	-0.374045	0.36418	T	0.0198646840941057	0.00688	T	0.536146	0.17993	T	0.04898356	0.08626	0.10324112	0.24765	0.061691523	0.12801	0.08736175	0.20301	-5.494	0.41812	T	.	.	0.079	0.07365	B	.;.;.;.	.;.;.;.	1.150286	0.15382	11.81	0.98137512893857815	0.38572	0.10085	0.15687	N	AEFDBCI	0.031797	0.03470	N	-0.914513858485043	0.10502	0.5021602	-0.905720561274289	0.11959	0.6124128	0.999981034855971	0.51787	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	2.92	2.92	0.32998	0.085000	0.14759	-0.052000	0.12533	-0.220000	0.07995	0.001000	0.13787	0.000000	0.08366	0.279000	0.23992	0.1303:0.0:0.6255:0.2442	3.743	0.08065	213	0.91726	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.08333	153.27	12	chr17	61456662	.	G	A	153.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.63;DP=126;ExcessHet=0;FS=5.021;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-1.406;SOR=1.133	GT:AD:DP:GQ:PL	0/0:28,0:28:84:0,84,840	5	0	1	1
chr17	61952973	61952973	C	T	exonic	MED13	.	nonsynonymous SNV	MED13:NM_005121:exon27:c.G6109A:p.A2037T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0306703768903	.	.	8.324e-06	0	0	0	0	1.507e-05	0	0	6.5e-06	1	154602	rs759641732	3.423e-06	3.42e-06	2.725e-06	4.129e-06	0.0002	1e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	1.658e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.578	0.06030	T	0.499	0.11227	T	0.0	0.02946	B	0.002	0.06944	B	0.002935	0.35704	N	0.297423	0.853402	0.28463	N	0	0.06538	N	-1.62	0.82347	D	-0.73	0.20576	N	0.087	0.06454	-0.8010	0.55086	T	0.324	0.69246	T	10	0.033187926	0.01488	T	0.03067	0.52928	D	0.219	0.51417	0.097	0.01334	0.20808081866	0.20439	0.25624729175393485	0.25538	0.840773140511	0.68051	0.229699119925	0.01946	T	0.221259	0.58478	T	-0.139501	0.29970	T	-0.43816	0.29014	T	0.23310443294145	0.22098	T	0.818618	0.47570	T	0.03492677	0.04013	0.048321467	0.07151	0.03492677	0.04013	0.048321467	0.07151	-3.326	0.14074	T	.	.	0.070	0.03301	B	.	.	2.446649	0.31499	18.76	0.75863109879970958	0.11240	0.89252	0.49605	D	AEFBI	0.154754	0.27984	N	-0.438100806856481	0.24146	1.301688	-0.309586738485038	0.27787	1.544457	0.00258711717590143	0.09551	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.38	3.35	0.37468	3.010000	0.49246	2.221000	0.31450	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.718000	0.34707	0.0:0.641:0.0:0.359	7.551	0.26964	73	0.96914	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	418.83	33	chr17	61952973	.	C	T	418.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.829;DP=192;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.487;SOR=0.793	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,971	6	0	1	0
chr17	61962768	61962768	C	T	exonic	MED13	.	nonsynonymous SNV	MED13:NM_005121:exon21:c.G5048A:p.S1683N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.00977400978344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.943	0.02181	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.000000	0.84330	N	0.085533	0.993765	0.42045	D	-0.64	0.02118	N	-1.7	0.83072	D	0.19	0.04947	N	0.119	0.10911	-0.8889	0.49029	T	0.217	0.57980	T	10	0.07827833	0.12457	T	0.009774	0.25495	T	0.244	0.55061	0.635	0.77142	0.110392049598	0.10638	0.28433293095288703	0.28346	0.169140404151	0.19067	0.540932655334	0.44577	T	0.226177	0.59113	T	-0.160397	0.26698	T	-0.468175	0.25713	T	0.530364453792572	0.33748	D	0.827917	0.49191	T	0.08063311	0.18487	0.09775632	0.23281	0.08063311	0.18486	0.09775632	0.23280	-1.745	0.02350	T	.	.	0.06	0.00934	B	.	.	1.877178	0.23844	16.17	0.88050630185092005	0.17679	0.71236	0.34927	D	AEFBI	0.103837	0.20792	N	-0.440799554701509	0.24052	1.296068	-0.211467040581427	0.31123	1.758447	0.0503766086448082	0.14837	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.05	4.08	0.46880	3.083000	0.49833	1.811000	0.28962	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.6739:0.0:0.3261	6.301	0.20319	84	0.96491	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	879.83	39	chr17	61962768	.	C	T	879.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.483;DP=250;ExcessHet=0;FS=0.926;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.157;SOR=0.941	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1299	6	0	1	0
chr17	61968034	61968034	C	G	splicing	MED13	NM_005121:exon18:c.4191+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.588e-05	0.0003	2.232e-05	2.945e-05	3.23e-05	1.91e-05	1.667e-05	2.345e-05	2.075e-05	3.058e-05	0	0	0	0	0	3.23e-05	1.685e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434982	0.91780	D	0.387045	0.91678	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.230299	0.94839	34	0.99425828103495784	0.63984	0.99078	0.90902	D	AEFDGBI	.	.	.	1.18346581302745	0.99385	22.32749	1.03762206024886	0.99231	21.357	0.999999999803192	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.128073	0.03558	0	0.089874	0.02613	0	0.978971	0.83387	5.44	5.44	0.79348	7.568000	0.81546	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.245	0.93883	91	0.96221	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	104.44	22	chr17	61968034	.	C	G	104.44	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.463;DP=167;ExcessHet=1.7609;FS=163.355;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=0.325;SOR=7.568	GT:AD:DP:GQ:PL	0/1:30,15:45:25:25,0,340	2	0	3	2
chr17	62736189	62736189	G	A	exonic	MARCHF10	.	nonsynonymous SNV	MARCHF10:NM_001100875:exon6:c.C1679T:p.T560I,MARCHF10:NM_152598:exon6:c.C1679T:p.T560I,MARCHF10:NM_001288779:exon7:c.C1793T:p.T598I,MARCHF10:NM_001288780:exon7:c.C1676T:p.T559I	.	430	1076	16	0	0	16	0.00738007	.	.	.	3220521	MARCHF10-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.020	0.000747285880691	0.0068	0.00379393	0.0067	0.0009	0.0066	0	0.0044	0.0091	0.0044	0.0055	0.0069857	1080	154602	rs147046907	0.0081	0.0081	0.0081	0.0081	0.0089	0.0080	0.0079	0.0088	0.0087	0.0009	0.0086	0.0108	0	0.0041	0.0088	0.0089	0.0075	0.0057	0.0073	0.0073	0.0073	0.0074	0.0140	0.0070	0.0068	0.0125	0.0119	0.0017	0.0143	0.0140	0.0130	0	0.0052	0.0068	0.0099	0.0104	0.0037	0.189	0.21224	T	0.138	0.38742	T	0.144	0.30426	B	0.014	0.22131	B	0.065125	0.02186	N	1.901870	1	0.08975	N	1.445	0.36358	L	2.63	0.12884	T	-1.82	0.44094	N	0.048	0.12341	-1.0214	0.23259	T	0.028	0.11882	T	10	0.0032739043	0.00056	T	7.47E-4	0.00529	T	0.020	0.03691	.	.	0.170165803431	0.16609	0.34173031340423193	0.34086	0.155758639587	0.17579	0.293748140335	0.09472	T	0.003796	0.03201	T	-0.646299	0.00076	T	-0.693178	0.06207	T	0.00331619772580236	0.00035	T	0.686231	0.29475	T	0.059711806	0.12168	0.09078379	0.21308	0.059711806	0.12167	0.09078379	0.21307	-3.926	0.22693	T	.	.	0.152	0.38711	B	.;.;.;.;.	.;.;.;.;.	1.608104	0.20553	14.80	0.45015877344334576	0.03503	0.08175	0.14137	N	AEFBI	0.076148	0.15311	N	-0.579418126679444	0.19570	1.025313	-0.597297329563985	0.19563	1.050175	0.0759936913170173	0.15713	0.559995	0.30671	0	0.547309	0.14657	0	0.527494	0.11647	0	0.530356	0.10902	0	.	.	5.37	3.32	0.37134	1.583000	0.36188	3.827000	0.39978	0.676000	0.76740	0.084000	0.22438	0.818000	0.27101	0.007000	0.07825	0.1827:0.0:0.8173:0.0	9.036	0.35451	589	0.68969	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.000000	0.006793	0.014620	0.000000	0.017241	0.021341	0.007576	0.07143	246.49	34	chr17	62736189	.	G	A	246.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.8;ReadPosRankSum=-0.848;SOR=1.002	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1009	6	0	1	0
chr17	63481680	63481680	G	A	exonic	ACE	.	nonsynonymous SNV	ACE:NM_001382701:exon5:c.G208A:p.G70R,ACE:NM_000789:exon7:c.G1060A:p.G354R	Renal tubular dysgenesis, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	.	345306	Microvascular_complications_of_diabetes,_susceptibility_to,_3|Renal_tubular_dysgenesis_of_genetic_origin|Hemorrhage,_intracerebral,_susceptibility_to|Renal_tubular_dysgenesis|not_provided	MONDO:MONDO:0012963,MedGen:C2675470,OMIM:612624|MONDO:MONDO:0009970,MedGen:C5681536,OMIM:267430,Orphanet:97369|MONDO:MONDO:0100533,MedGen:C3281105,OMIM:614519|Human_Phenotype_Ontology:HP:0008660,MONDO:MONDO:0017609,MedGen:C0266313,Orphanet:3033|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.318	.	0.0065	0.00379393	0.0078	0.0011	0.0033	0	0.0262	0.0105	0.0077	0.0015	0.0075355	1165	154602	rs56394458	0.0087	0.0087	0.0087	0.0086	0.0095	0.0085	0.0085	0.0093	0.0093	0.0015	0.0044	0.0008	2.519e-05	0.0235	0.0066	0.0095	0.0066	0.0019	0.0071	0.0071	0.0064	0.0078	0.0091	0.0068	0.0066	0.0085	0.0083	0.0018	0	0.0046	0.0012	0	0.0279	0.0034	0.0091	0.0057	0.0014	0.012	0.55530	D	0.004	0.76473	D	1.0	0.90584	D	0.998	0.88582	D	0.000002	0.62929	D	0.000000	1	0.81001	D	3.545	0.93219	H	0.55	0.54728	T	-3.27	0.65512	D	0.819	0.81459	-0.2070	0.77491	T	0.279	0.65119	T	10	0.016649961	0.00352	T	.	.	.	0.318	0.64008	0.394	0.41935	0.848307341727	0.84685	0.3805313184583944	0.37968	0.22178067715	0.24716	0.630038380623	0.57151	T	0.031829	0.43276	T	-0.216507	0.18473	T	-0.0701487	0.65616	T	0.0555810719895859	0.06454	T	0.927707	0.75038	D	0.43089223	0.62810	0.4152924	0.65647	0.49997067	0.67094	0.43169975	0.66779	-11.149	0.80469	D	0.6279207330342891	0.69699	0.194	0.43421	B	.;.	.;.	5.222411	0.87654	29.3	0.99832042966239665	0.91370	0.98718	0.85968	D	AEFDBI	0.892225	0.82895	D	0.54342816753885	0.69681	5.391903	0.517359654235633	0.69156	5.320651	0.999999951504153	0.74766	0.460665	0.09802	0	0.547309	0.14657	0	0.603688	0.36954	0	0.636168	0.56350	0	.	.	4.33	4.33	0.51083	6.578000	0.73920	8.592000	0.77691	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.931000	0.46843	0.0:0.0:1.0:0.0	17.028	0.86326	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	698.63	34	chr17	63481680	.	G	A	698.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.836;DP=232;ExcessHet=0;FS=1.96;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=-0.017;SOR=0.976	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,111,1169	6	0	1	0
chr17	63491327	63491327	G	A	exonic	ACE	.	nonsynonymous SNV	ACE:NM_001382702:exon7:c.G596A:p.R199Q,ACE:NM_001178057:exon8:c.G1136A:p.R379Q,ACE:NM_152830:exon8:c.G1136A:p.R379Q,ACE:NM_001382700:exon16:c.G2291A:p.R764Q,ACE:NM_001382701:exon17:c.G2006A:p.R669Q,ACE:NM_000789:exon19:c.G2858A:p.R953Q	Renal tubular dysgenesis, Autosomal recessive	0	1508	13	1	0	15	0.00494886	.	.	.	346715	Renal_tubular_dysgenesis|not_provided	Human_Phenotype_Ontology:HP:0008660,MONDO:MONDO:0017609,MedGen:C0266313,Orphanet:3033|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.418	.	0.0002	0.00239617	0.0013	0.0002	0.0004	0.0001	0	3.003e-05	0.0011	0.0087	0.0010867	168	154602	rs143507892	0.0006	0.0006	0.0004	0.0008	0.0085	0.0006	0.0006	0.0080	0.0078	2.987e-05	0.0002	0	2.519e-05	0	0.0019	7.824e-05	0.0007	0.0085	0.0003	0.0003	0.0002	0.0003	0.0064	0.0002	0.0002	0.0046	0.0040	2.406e-05	0	0.0003	0	0	0	0	7.351e-05	0	0.0064	0.005	0.68238	D	0.022	0.57587	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.985	0.85602	M	0.84	0.47477	T	-3.15	0.72710	D	0.826	0.85132	-0.1497	0.78923	T	0.387	0.74217	T	10	0.013521582	0.00286	T	.	.	.	0.418	0.72780	.	.	0.937548390603	0.93689	0.6580919438539501	0.65746	0.512096811149	0.49265	0.567733824253	0.48358	T	0.110055	0.63867	T	-0.0939605	0.37422	T	0.0975237	0.76743	D	0.163396631722251	0.18119	T	0.947605	0.90829	D	0.90277034	0.91633	0.7163986	0.83260	0.8859031	0.90160	0.7194945	0.83441	-9.341	0.72249	D	0.6465100972114117	0.71799	0.218	0.48918	B	.;.;.;.;.	.;.;.;.;.	4.734429	0.76285	26.5	0.99358669262211419	0.60904	0.95110	0.63474	D	AEFDGBCI	0.957273	0.97636	D	0.776711513751489	0.84631	8.34185	0.710860647772039	0.83202	7.960638	0.999999999082028	0.74766	0.646311	0.45356	0	0.563428	0.19063	0	0.645312	0.48771	0	0.636168	0.56350	0	.	.	5.39	5.39	0.77615	8.125000	0.89463	11.820000	0.97208	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.078000	0.17132	0.0:0.0:1.0:0.0	19.150	0.93470	930	0.16408	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.015152	0.07143	376.45	34	chr17	63491327	.	G	A	376.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.33;DP=219;ExcessHet=0;FS=1.301;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=-1.334;SOR=0.474	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1212	6	0	1	0
chr17	63872555	63872555	C	T	exonic	CSH2	.	nonsynonymous SNV	CSH2:NM_022644:exon4:c.G478A:p.A160T	.	0	1505	16	0	1	17	0.00528751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.00958917424235	0.0003	0.00179712	0.0013	0.0004	0.0026	0	0	0.0011	0.0033	0.0027	0.0013777	213	154602	rs1811082	0.0007	0.0011	0.0006	0.0007	0.0075	0.0006	0.0006	0.0057	0.0051	0.0004	0.0020	0.0029	0.0001	0	0.0075	0.0005	0.0013	0.0019	0.0009	0.0011	0.0010	0.0008	0.0025	0.0008	0.0007	0.0019	0.0016	0.0003	0	0.0025	0.0055	0	9.429e-05	0.0103	0.0008	0.0033	0.0015	0.028	0.46129	D	0.058	0.46182	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.35	0.88066	D	-0.09	0.08340	N	0.054	0.02559	-0.8368	0.52858	T	0.242	0.61060	T	8	0.006950289	0.00158	T	0.009589	0.25085	T	0.135	0.36572	.	.	0.0846915920261	0.08053	.	.	.	.	.	.	.	.	.	.	-0.414725	0.01850	T	-0.375764	0.36217	T	0.00215468234746831	0.00022	T	0.234876	0.03235	T	.	.	.	.	.	.	.	.	-3.692	0.19200	T	.	.	0.083	0.09433	B	.	.	0.589305	0.09576	6.353	0.72068831384837162	0.09845	0.00182	0.01064	N	AEFI	0.016340	0.00362	N	-1.64488747935536	0.01057	0.04585317	-1.68511492327851	0.01204	0.05423025	2.46848498165473E-5	0.03498	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.07	-2.18	0.06643	-0.184000	0.09693	-0.664000	0.07966	-0.962000	0.01975	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2471:0.1768:0.3735:0.2027	0.605	0.00702	875	0.30485	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007431	0.005051	0.012228	0.008197	0.000000	0.017241	0.000000	0.000000	0.07143	1919.46	33	chr17	63872555	.	C	T	1919.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.456;DP=370;ExcessHet=0;FS=4.142;MLEAC=1;MLEAF=0.071;MQ=55.17;MQRankSum=-1.423;QD=10;ReadPosRankSum=2.29;SOR=0.502	GT:AD:DP:GQ:PL	0/1:103,89:192:99:1930,0,2435	6	0	1	0
chr17	64001113	64001113	-	GAG	exonic	PRR29	.	nonframeshift insertion	PRR29:NM_001164257:exon4:c.273_274insGAG:p.E97_M98insE,PRR29:NM_001191029:exon4:c.273_274insGAG:p.E97_M98insE,PRR29:NM_001191030:exon4:c.252_253insGAG:p.E90_M91insE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	.	5.688e-05	0	0	0	0	0.0001	0	0	0.0001153	3	26028	rs747968978	2.816e-05	3.42e-05	3.136e-05	2.487e-05	0.0002	2.108e-05	1.851e-05	7.315e-05	4.945e-05	6.331e-05	0.0002	0	0	0	0	2.318e-05	3.45e-05	5.049e-05	7.894e-05	7.882e-05	0.0001	5.386e-05	0.0005	4.501e-05	3.516e-05	0.0003	0.0002	2.416e-05	0	0.0005	0	0	0	0	2.941e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	887.5	34	chr17	64001113	.	T	TGAG	887.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.232;DP=236;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-1.097;SOR=0.575	GT:AD:DP:GQ:PL	0/1:38,25:63:99:898,0,1510	6	0	1	0
chr17	64001220	64001220	C	T	exonic	PRR29	.	nonsynonymous SNV	PRR29:NM_001164257:exon4:c.C380T:p.P127L,PRR29:NM_001191029:exon4:c.C380T:p.P127L,PRR29:NM_001191030:exon4:c.C359T:p.P120L	.	381	1140	1	0	0	1	0.000438404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.0777507729053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1397558898	1.444e-06	1.368e-06	2.85e-06	0	1.854e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.854e-06	0	0	6.572e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.098	0.92824	T	0.986	0.61523	D	0.683	0.53559	P	.	.	.	.	0.760379	0.81001	D	2.25	0.63811	M	0.67	0.54540	T	-6.24	0.90530	D	0.224	0.28849	-0.7445	0.58221	T	0.253	0.62292	T	9	0.34950912	0.51843	T	0.077751	0.72844	D	0.237	0.54074	0.44	0.49484	0.254244900254	0.25046	0.23072997802445863	0.22987	.	.	.	.	.	0.109692	0.42378	T	-0.0344726	0.46763	T	-0.287294	0.46053	T	0.981649219989777	0.74030	D	0.571043	0.20346	T	0.116358966	0.27445	0.1365214	0.32657	0.116358966	0.27445	0.1365214	0.32657	-7.263	0.55932	T	.	.	0.098	0.29887	B	.;.;.;.;.	.;.;.;.;.	2.608450	0.33872	19.47	0.98803092987117147	0.46493	0.34685	0.25125	N	AEFDBCI	0.128994	0.24699	N	-0.16642926810097	0.34538	1.973	-0.272333453483187	0.29013	1.622169	0.999230887101909	0.38840	0.722319	0.85440	0	0.550933	0.16991	0	0.577349	0.28860	0	0.735409	0.98432	0	.	.	4.43	3.46	0.38718	1.099000	0.30625	0.397000	0.17956	-0.178000	0.10482	0.496000	0.26925	0.005000	0.19230	0.006000	0.07323	0.0:0.8135:0.1865:0.0	10.989	0.46751	775	0.48401	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1290.49	37	chr17	64001220	.	C	T	1290.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.489;DP=258;ExcessHet=0;FS=0.895;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.76;ReadPosRankSum=-0.614;SOR=0.614	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1083	6	0	1	0
chr17	64065211	64065211	C	T	exonic	ERN1	.	nonsynonymous SNV	ERN1:NM_001433:exon9:c.G919A:p.V307M	.	429	1092	1	0	0	1	0.000457666	0.3725	0.476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.0320636065257	8.2e-05	0.000199681	4.227e-05	0.0003	0	0	0	0	0	9.747e-05	3.88e-05	6	154602	rs369579513	1.239e-05	1.71e-05	9.573e-06	1.523e-05	0.0002	7.74e-06	6.39e-06	7.85e-05	5.33e-05	0.0002	0	0	2.53e-05	0	0	3.611e-06	0	8.294e-05	2.628e-05	2.625e-05	2.57e-05	2.688e-05	9.631e-05	8.14e-06	5.14e-06	3.244e-05	1.911e-05	9.631e-05	0	0	0	0	0	0	0	0	0	0.023	0.48186	D	0.065	0.44702	T	0.584	0.38894	P	0.058	0.26451	B	0.000000	0.84330	D	0.000000	0.999988	0.54805	D	1.465	0.36909	L	0.09	0.61443	T	-2.06	0.47175	N	0.308	0.34767	-0.7249	0.59220	T	0.175	0.51943	T	10	0.19276768	0.35019	T	0.032064	0.53992	D	0.161	0.41658	.	.	0.484294873522	0.48060	0.620984225197396	0.62031	0.547155586533	0.51685	0.792421936989	0.80811	T	0.168127	0.51502	T	-0.26206	0.12660	T	-0.313883	0.43241	T	0.0895968283857063	0.11169	T	0.932607	0.74787	D	0.31157193	0.53922	0.18746889	0.41981	0.31157193	0.53922	0.18746889	0.41980	-3.054	0.10775	T	.	.	0.111	0.21390	B	.	.	4.599057	0.72823	25.9	0.99674846910022707	0.78846	0.97594	0.75777	D	AEFDBI	0.686044	0.64784	D	0.24684966893516	0.53482	3.516974	0.313410665694364	0.56328	3.795888	0.99999943932772	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.37	5.37	0.76949	4.754000	0.61888	5.924000	0.51211	0.599000	0.40250	1.000000	0.71638	0.996000	0.32793	0.263000	0.23594	0.0:0.9262:0.0:0.0738	13.758	0.62435	823	0.40596	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	465.44	54	chr17	64065211	.	C	T	465.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.69;DP=227;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.62;ReadPosRankSum=0.136;SOR=0.826	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1157	6	0	1	0
chr17	67108567	67108567	A	G	exonic	HELZ	.	nonsynonymous SNV	HELZ:NM_001330447:exon30:c.T4652C:p.L1551S,HELZ:NM_014877:exon30:c.T4649C:p.L1550S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.0729094708216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.186	0.28860	T	0.003	0.11197	B	0.003	0.08700	B	0.012393	0.29191	N	0.253488	0.609882	0.30869	N	1.95	0.52479	M	-1.81	0.83970	D	-0.47	0.15178	N	0.519	0.72567	-0.3177	0.74486	T	0.408	0.75720	T	10	0.28030685	0.45605	T	0.072909	0.71654	D	0.338	0.66010	0.27	0.21893	0.413703809202	0.40986	0.42845633616725615	0.42762	0.227569891846	0.25311	0.477938324213	0.35773	T	0.087813	0.38023	T	0.0966137	0.63924	D	-0.0989976	0.63475	T	0.795246541500092	0.46034	D	0.675632	0.28413	T	0.07554357	0.17026	0.094760336	0.22445	0.07554357	0.17025	0.094760336	0.22444	-4.523	0.31188	T	.	.	0.172	0.39832	B	.;.	.;.	2.412281	0.31007	18.61	0.96393672572642108	0.29661	0.96217	0.68073	D	AEFDGBIJ	0.533942	0.55318	D	-0.196119827586313	0.33295	1.887365	-0.0510689803232702	0.37444	2.192464	0.999999999937428	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.27	4.19	0.48645	6.372000	0.73058	7.951000	0.75833	0.743000	0.86499	0.988000	0.36536	0.969000	0.29651	0.918000	0.45347	0.9263:0.0:0.0737:0.0	10.943	0.46495	550	0.72197	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1845.44	92	chr17	67108567	.	A	G	1845.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.24;DP=634;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=-1.299;SOR=0.718	GT:AD:DP:GQ:PL	0/1:74,75:149:99:1856,0,1725	6	0	1	0
chr17	67826264	67826264	-	GAC	exonic	BPTF	.	nonframeshift insertion	BPTF:NM_004459:exon1:c.540_541insGAC:p.D185_A186insD,BPTF:NM_182641:exon1:c.540_541insGAC:p.D185_A186insD	.	.	.	.	.	.	.	.	.	.	.	2022860	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	4.137e-05	0.0002	0.0002	0	0	1.507e-05	0	0	3.84e-05	1	26028	rs768839258	1.848e-05	1.847e-05	1.362e-05	2.339e-05	0.0004	1.266e-05	1.085e-05	6.324e-05	2.607e-05	2.989e-05	8.946e-05	0	0	0	0.0004	1.529e-05	1.658e-05	2.32e-05	7.887e-05	7.875e-05	0.0001	5.377e-05	0.0002	4.498e-05	3.513e-05	5.847e-05	4.243e-05	7.222e-05	0	0	0	0.0002	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1416.45	33	chr17	67826264	.	A	AGAC	1416.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.665;DP=276;ExcessHet=0;FS=5.641;MLEAC=1;MLEAF=0.071;MQ=59.92;MQRankSum=-1.548;QD=16.86;ReadPosRankSum=-1.29;SOR=1.329	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1017	6	0	1	0
chr17	67911177	67911177	C	T	exonic	BPTF	.	nonsynonymous SNV	BPTF:NM_182641:exon11:c.C3293T:p.S1098F,BPTF:NM_004459:exon13:c.C3671T:p.S1224F	.	428	1088	6	0	0	6	0.00274977	.	.	.	704318	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.116	.	0.0073	0.0119808	0.0048	0.0218	0.0018	0.0110	0	7.581e-05	0.0033	0.0142	0.0045084	697	154602	rs114086141	0.0019	0.0019	0.0017	0.0022	0.0205	0.0019	0.0019	0.0192	0.0187	0.0205	0.0023	0	0.0134	0	0.0021	4.227e-05	0.0053	0.0132	0.0074	0.0074	0.0074	0.0074	0.0219	0.0070	0.0069	0.0207	0.0202	0.0219	0	0.0032	0	0.0137	0	0.0034	0.0001	0.0057	0.0155	0.001	0.78490	D	0.008	0.76473	D	0.995	0.67487	D	0.914	0.64984	D	.	.	.	.	0.959243	0.26193	N	1.59	0.40313	L	-2.23	0.87116	D	-3.01	0.62518	D	0.237	0.26717	-0.8563	0.51527	T	0.149	0.47575	T	9	0.0033612251	0.00058	T	.	.	.	0.116	0.32463	.	.	0.454925483252	0.45117	0.05283498364951307	0.05225	1.06368782234	0.76556	0.309189617634	0.11784	T	0.248298	0.61808	T	-0.318042	0.07059	T	-0.212702	0.53437	T	0.0194019121745128	0.00645	T	0.928457	0.73631	D	0.13499396	0.31345	0.20394574	0.44496	0.13196579	0.30743	0.20137969	0.44114	-6.104	0.47141	T	.	.	0.119	0.29088	B	.;.;.;.;.;.	.;.;.;.;.;.	3.557826	0.50049	22.9	0.98640586623677318	0.44042	0.63448	0.32092	D	AEFDBHCIJ	0.225541	0.34962	N	-0.267886597512727	0.30397	1.694447	-0.282701354797527	0.28667	1.600184	0.953810239677997	0.28095	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.05	5.09	0.68647	2.642000	0.46262	4.927000	0.46095	0.599000	0.40250	0.014000	0.18986	0.995000	0.32472	0.016000	0.10718	0.1362:0.7958:0.0:0.068	10.124	0.41810	840	0.37365	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005544	0.010101	0.004076	0.002941	0.000000	0.000000	0.000000	0.015152	0.07143	465.63	36	chr17	67911177	.	C	T	465.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.414;DP=203;ExcessHet=0;FS=3.524;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=0.659;SOR=1.493	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1119	6	0	1	0
chr17	67913177	67913177	A	G	exonic	BPTF	.	nonsynonymous SNV	BPTF:NM_182641:exon11:c.A5293G:p.I1765V,BPTF:NM_004459:exon13:c.A5671G:p.I1891V	.	436	1084	2	0	0	2	0.000921659	.	.	.	3302051	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.178	0.0246064156982	7.8e-05	.	1.747e-05	0	0	0	0	3.115e-05	0	0	1.29e-05	2	154602	rs374472902	1.243e-05	1.231e-05	1.099e-05	1.389e-05	0.0002	7.77e-06	6.41e-06	8.14e-06	6.45e-06	0	0	0	0	0	0.0002	1.355e-05	1.675e-05	1.194e-05	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.132	0.26519	T	0.166	0.35205	T	0.936	0.52359	P	0.901	0.63994	P	.	.	.	.	0.999739	0.51612	D	1.245	0.31408	L	-2.2	0.86888	D	-0.5	0.15782	N	0.435	0.49602	-0.6001	0.64813	T	0.250	0.61935	T	9	0.35677618	0.52408	T	0.024606	0.47597	T	0.178	0.44724	.	.	0.443461608722	0.43965	0.47854432894616633	0.47774	0.96923454907	0.73300	0.864138364792	0.91720	D	0.124625	0.44978	T	-0.000902949	0.51531	T	-0.129015	0.61055	T	0.706970512866974	0.41052	D	0.894511	0.63379	D	0.078883186	0.17991	0.12232722	0.29508	0.078883186	0.17991	0.12232722	0.29507	-7.951	0.60735	D	.	.	0.468	0.63090	A	.;.;.;.;.;.	.;.;.;.;.;.	4.106203	0.61261	24.3	0.99451063669236084	0.65274	0.98458	0.82987	D	AEFBI	0.719974	0.67069	D	0.488971525147334	0.66444	4.950973	0.56956824046122	0.72768	5.862327	0.999951001469059	0.48110	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.77	5.77	0.91077	6.121000	0.71321	11.238000	0.90335	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.395	0.83423	838	0.37812	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	178.27	26	chr17	67913177	.	A	G	178.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.132;DP=150;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=-0.169;SOR=1.085	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1119	5	0	1	1
chr17	68356690	68356690	C	T	exonic	ARSG	.	nonsynonymous SNV	ARSG:NM_001352909:exon5:c.C542T:p.T181I,ARSG:NM_001267727:exon6:c.C590T:p.T197I,ARSG:NM_001352899:exon6:c.C590T:p.T197I,ARSG:NM_001352900:exon6:c.C590T:p.T197I,ARSG:NM_001352901:exon6:c.C590T:p.T197I,ARSG:NM_001352902:exon6:c.C590T:p.T197I,ARSG:NM_001352903:exon6:c.C590T:p.T197I,ARSG:NM_001352904:exon6:c.C590T:p.T197I,ARSG:NM_001352905:exon6:c.C590T:p.T197I,ARSG:NM_001352906:exon6:c.C590T:p.T197I,ARSG:NM_001352907:exon6:c.C590T:p.T197I,ARSG:NM_001352910:exon6:c.C590T:p.T197I,ARSG:NM_014960:exon6:c.C590T:p.T197I	.	426	1095	1	0	0	1	0.000456413	.	.	YES	2006189	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.058	0.0147712419972	.	.	3.297e-05	0	0	0	0	1.499e-05	0	0.0002	2.59e-05	4	154602	rs762906940	9.577e-06	9.577e-06	6.806e-06	1.238e-05	0.0002	5.56e-06	4.35e-06	4.578e-05	3.272e-05	0	0	0	0	0	0.0002	3.597e-06	1.656e-05	9.275e-05	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.201	0.38160	T	0.005	0.12996	B	0.008	0.13708	B	0.629527	0.05803	N	1.308390	1	0.08975	N	1.15	0.29295	L	-3.28	0.93691	D	.	.	.	0.286	0.33904	-1.0173	0.24592	T	0.077	0.30951	T	9	0.09891325	0.17916	T	0.014771	0.35101	T	0.058	0.16647	0.508	0.60386	0.57252228419	0.56919	0.8073345934197095	0.80688	0.378805878549	0.39287	0.320444822311	0.13488	T	0.437627	0.78358	T	-0.174121	0.24615	T	-0.251221	0.49697	T	0.0165909361094236	0.00420	T	0.825917	0.48908	T	0.058415044	0.11747	0.05818114	0.10706	0.058415044	0.11747	0.05818114	0.10705	-6.184	0.47793	T	.	.	0.188	0.43815	B	.;.;.	.;.;.	2.046652	0.26021	16.97	0.97238264818001519	0.32983	0.10571	0.16040	N	ALL	0.050109	0.08725	N	-0.799317819815654	0.13327	0.6557898	-0.751961686350256	0.15674	0.8255256	0.999999999997883	0.74766	0.615465	0.37627	0	0.560097	0.17682	1	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.38	1.98	0.25351	0.014000	0.13228	0.985000	0.23152	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.530000	0.29707	0.0:0.7494:0.0:0.2506	9.090	0.35764	914	0.21048	Sulfatase, N-terminal;Sulfatase, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1119.83	34	chr17	68356690	.	C	T	1119.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.252;DP=275;ExcessHet=0;FS=2.581;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-1.539;SOR=0.462	GT:AD:DP:GQ:PL	0/1:51,50:101:99:1130,0,1227	6	0	1	0
chr17	68368609	68368609	G	A	exonic	ARSG	.	nonsynonymous SNV	ARSG:NM_001352909:exon6:c.G718A:p.V240M,ARSG:NM_001267727:exon7:c.G766A:p.V256M,ARSG:NM_001352899:exon7:c.G766A:p.V256M,ARSG:NM_001352900:exon7:c.G766A:p.V256M,ARSG:NM_001352901:exon7:c.G766A:p.V256M,ARSG:NM_001352902:exon7:c.G766A:p.V256M,ARSG:NM_001352903:exon7:c.G763A:p.V255M,ARSG:NM_001352904:exon7:c.G763A:p.V255M,ARSG:NM_001352905:exon7:c.G763A:p.V255M,ARSG:NM_001352906:exon7:c.G763A:p.V255M,ARSG:NM_001352907:exon7:c.G763A:p.V255M,ARSG:NM_001352910:exon7:c.G766A:p.V256M,ARSG:NM_014960:exon7:c.G766A:p.V256M	.	423	1095	4	0	0	4	0.00182315	.	.	.	1594013	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.070	0.0321560427342	0.0003	0.000199681	0.0003	0	0.0002	0	0	0.0005	0.0022	0	0.0002781	43	154602	rs144631983	0.0003	0.0003	0.0002	0.0003	0.0099	0.0002	0.0002	0.0078	0.0071	8.961e-05	0.0005	0.0021	0	0	0.0099	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	2.405e-05	0	0.0001	0.0017	0	0	0.0034	0.0002	0	0.0002	0.05	0.39575	D	0.222	0.25748	T	0.398	0.34801	B	0.233	0.38358	B	0.584189	0.11114	N	0.829482	1	0.08975	N	1.855	0.49169	L	-5.14	0.98763	D	-0.53	0.16393	N	0.115	0.11912	-0.9070	0.47215	T	0.161	0.49548	T	9	0.016359001	0.00345	T	0.032156	0.54058	D	0.070	0.20419	.	.	0.492200611407	0.48855	0.5848721385615048	0.58417	0.355312255275	0.37297	0.429345279932	0.29119	T	0.446194	0.86545	T	-0.265476	0.12266	T	-0.302959	0.44413	T	0.0156232531215351	0.00358	T	0.527047	0.17380	T	0.061069414	0.12605	0.0455482	0.06155	0.061069414	0.12605	0.0455482	0.06154	-6.921	0.53455	T	0.4966304388728896	0.57256	0.111	0.25331	B	.;.;.	.;.;.	0.177834	0.05660	2.108	0.96808685996809563	0.31180	0.06337	0.12335	N	AEFDGBHCI	0.042350	0.06559	N	-0.778819585313376	0.13863	0.6860853	-0.928474386106551	0.11423	0.5818885	0.999999592653824	0.74766	0.615465	0.37627	0	0.667123	0.63270	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.26	-0.582	0.11122	-0.276000	0.08546	-0.314000	0.10017	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1754:0.0:0.7104:0.1143	10.443	0.43663	905	0.23532	Sulfatase, N-terminal;Sulfatase, N-terminal;Sulfatase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006552	0.005051	0.009511	0.017647	0.000000	0.000000	0.003049	0.000000	0.07143	964.83	30	chr17	68368609	.	G	A	964.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.09;DP=223;ExcessHet=0;FS=8.31;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.53;ReadPosRankSum=-1.717;SOR=1.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,120,1800:.	6	0	1	0
chr17	68539946	68539946	A	G	exonic	FAM20A	.	nonsynonymous SNV	FAM20A:NM_017565:exon9:c.T1240C:p.Y414H,FAM20A:NM_001243746:exon10:c.T826C:p.Y276H	Amelogenesis imperfecta, type IG (enamel-renal syndrome), Autosomal recessive	0	1511	11	0	0	11	0.00362677	.	.	.	727380	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.779	0.228014372048	.	0.000599042	0.0012	0.0002	0.0003	0	0	0.0002	0	0.0077	0.0010414	161	154602	rs372864017	0.0005	0.0005	0.0003	0.0008	0.0076	0.0005	0.0005	0.0071	0.0069	5.974e-05	0.0004	0.0003	0	7.488e-05	0.0009	6.475e-05	0.0005	0.0076	0.0002	0.0002	0.0001	0.0003	0.0039	0.0001	0.0001	0.0026	0.0021	0	0	6.536e-05	0.0006	0	0	0.0034	0.0001	0	0.0039	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.47	0.92451	M	-1.77	0.83660	D	.	.	.	0.934	0.94550	0.336	0.88119	D	0.572	0.84531	D	9	0.06350544	0.08284	T	0.228014	0.88117	D	.	.	.	.	0.894701625459	0.89365	0.8684829164671358	0.86813	0.7602088764	0.64219	0.817299485207	0.84613	D	0.809263	0.95216	D	0.122547	0.66627	D	0.407819	0.92363	D	0.167178443151276	0.18386	T	0.995767	0.98511	D	0.90692586	0.92010	0.7969727	0.88080	0.9213564	0.93380	0.8344416	0.90475	-11.02	0.79768	D	.	.	0.836	0.80654	P	.;.	.;.	5.145366	0.86163	28.8	0.99863448430303225	0.94184	0.97724	0.76675	D	AEFDBCI	0.938424	0.93761	D	0.929231934787819	0.93117	11.83158	0.87597330785434	0.94437	12.76096	0.999999999789152	0.74766	0.631515	0.41029	0	0.150725	0.03546	3	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.67	5.67	0.87673	8.895000	0.92155	11.237000	0.90306	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	1.0:0.0:0.0:0.0	15.906	0.79216	942	0.12992	FAM20, C-terminal;FAM20, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.011364	0.07143	1716.83	34	chr17	68539946	.	A	G	1716.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.084;DP=326;ExcessHet=0;FS=1.308;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.051;SOR=0.835	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,101,1426	6	0	1	0
chr17	69088219	69088219	A	C	exonic	ABCA6	.	nonsynonymous SNV	ABCA6:NM_080284:exon28:c.T3646G:p.C1216G	.	454	1045	18	5	0	28	0.01322	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.555	0.0492893968447	0.0005	0.000199681	0.0005	0	8.864e-05	0	0	0.0006	0.0023	0.0010	0.000401	62	154602	rs201339605	0.0003	0.0003	0.0003	0.0004	0.0026	0.0003	0.0003	0.0016	0.0013	2.992e-05	0.0006	7.662e-05	0	1.877e-05	0.0026	0.0003	0.0006	0.0015	0.0003	0.0003	0.0004	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	0	0	0.0001	0	0	0	0.0034	0.0006	0.0005	0.0004	0.055	0.38407	T	0.069	0.43913	T	0.967	0.56408	D	0.756	0.56253	P	0.007964	0.31093	N	0.146929	0.806409	0.34580	D	3.2	0.89116	M	-2.09	0.86077	D	-10.79	0.99198	D	0.607	0.62442	0.577	0.91600	D	0.736	0.90983	D	10	0.39042228	0.54851	T	0.049289	0.63745	D	0.555	0.81659	.	.	0.944523883228	0.94394	0.18814485795219263	0.18732	0.203604991525	0.22774	0.405933737755	0.25894	T	0.293799	0.66649	T	-0.15892	0.26926	T	-0.0466053	0.67254	D	0.216425599304568	0.21284	T	0.648535	0.25952	T	0.6130245	0.73390	0.6582248	0.79982	0.6130245	0.73391	0.6582248	0.79983	-7.453	0.57279	T	.	.	0.134	0.29172	B	.	.	3.895185	0.56705	23.8	0.97975398609407505	0.37283	0.95832	0.66344	D	AEFBI	0.846047	0.76294	D	0.506882642008772	0.67496	5.089388	0.441852167366404	0.64196	4.669193	0.936456131649171	0.27255	0.706298	0.61202	0	0.708844	0.79440	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.68	4.68	0.58319	5.136000	0.64623	5.233000	0.48037	0.756000	0.94297	0.506000	0.27002	0.998000	0.33993	0.998000	0.85391	1.0:0.0:0.0:0.0	13.379	0.60203	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.002717	0.000000	0.000000	0.008621	0.000000	0.003788	0.1429	2857.25	35	chr17	69088219	.	A	C	2857.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.413;DP=416;ExcessHet=0.3476;FS=2.028;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=0.074;SOR=0.571	GT:AD:DP:GQ:PL	0/1:69,78:147:99:1648,0,1625	5	0	2	0
chr17	69096328	69096328	G	C	exonic	ABCA6	.	nonsynonymous SNV	ABCA6:NM_080284:exon25:c.C3320G:p.A1107G	.	479	1041	2	0	0	2	0.000959693	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.0113502815154	.	.	0.0005	0	0	0	0	0	0	0.0037	0.0003622	56	154602	rs758758118	0.0002	0.0002	7.627e-05	0.0002	0.0030	0.0001	0.0001	0.0027	0.0026	0	0	0	0	0	0	9.461e-07	7.193e-05	0.0030	5.913e-05	5.906e-05	2.571e-05	9.405e-05	0.0019	3.077e-05	2.21e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.306	0.14207	T	0.311	0.19660	T	0.004	0.12183	B	0.033	0.22329	B	0.092607	0.20265	N	0.408600	0.99999	0.08975	N	1.965	0.53209	M	-2.21	0.86963	D	-1.96	0.45404	N	0.325	0.36569	-0.5869	0.65344	T	0.492	0.80698	T	10	0.0155830085	0.00327	T	0.01135	0.28886	T	0.170	0.43303	0.459	0.52590	0.705352534885	0.70279	0.25671374423327603	0.25585	0.0369952036402	0.03923	0.273047268391	0.06542	T	0.42659	0.77634	T	-0.348575	0.04818	T	-0.277158	0.47095	T	0.0423941079241193	0.04127	T	0.212579	0.02598	T	0.09575146	0.22540	0.09586815	0.22755	0.09575146	0.22540	0.09586815	0.22755	-7.321	0.56345	T	.	.	0.18	0.39185	B	.	.	1.548917	0.19855	14.47	0.92635218981719791	0.22108	0.25025	0.22574	N	AEFBI	0.156412	0.28176	N	-0.658761191717843	0.17206	0.8833703	-0.676598947001245	0.17546	0.9334764	0.0299505299908294	0.13914	0.651	0.46895	0	0.708844	0.79440	0	0.573888	0.23631	0	0.683762	0.67416	0	.	.	4.61	1.57	0.22490	1.115000	0.30823	1.682000	0.28018	0.671000	0.69459	0.021000	0.19753	0.003000	0.18671	0.985000	0.61073	0.3031:0.0:0.6969:0.0	6.446	0.21079	916	0.20744	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	145.83	15	chr17	69096328	.	G	C	145.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=116;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-1.963;SOR=0.693	GT:AD:DP:GQ:PL	0/0:26,0:26:78:0,78,698	6	0	1	0
chr17	73232240	73232240	G	C	exonic	FAM104A	.	nonsynonymous SNV	FAM104A:NM_001098832:exon1:c.C67G:p.P23A,FAM104A:NM_001289410:exon1:c.C67G:p.P23A,FAM104A:NM_001289411:exon1:c.C67G:p.P23A,FAM104A:NM_032837:exon1:c.C67G:p.P23A	.	434	1068	20	0	0	20	0.00927644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0417095240966	0.0044	0.00239617	0.0039	0.0018	0.0019	0	0.0003	0.0062	0.0062	0.0013	0.0038098	589	154602	rs180917408	0.0058	0.0058	0.0059	0.0058	0.0141	0.0057	0.0057	0.0116	0.0107	0.0010	0.0024	0.0025	2.523e-05	0.0005	0.0141	0.0070	0.0048	0.0016	0.0039	0.0040	0.0043	0.0036	0.0065	0.0037	0.0036	0.0060	0.0058	0.0015	0	0.0045	0.0020	0	0.0003	0.0136	0.0065	0.0043	0.0004	0.108	0.29420	T	0.091	0.49942	T	0.705	0.41986	P	0.359	0.43123	B	.	.	.	.	0.842808	0.28607	N	0.805	0.20218	L	0.55	0.58176	T	-0.7	0.21644	N	0.412	0.48504	-1.0613	0.11434	T	0.062	0.25672	T	9	0.007984251	0.00181	T	0.04171	0.60073	D	0.156	0.40720	.	.	0.46763814438	0.46390	0.166938773126972	0.16613	0.370701444111	0.38581	0.722039461136	0.70343	T	0.027087	0.40233	T	-0.356881	0.04309	T	-0.282522	0.46546	T	0.066659530329254	0.08175	T	0.662834	0.41282	T	0.0840635	0.19440	0.12637298	0.30437	0.0840635	0.19439	0.12637298	0.30436	-2.866	0.08828	T	.	.	0.064	0.11845	B	.;.;.;.	.;.;.;.	4.039256	0.59786	24.1	0.98713176618007037	0.45083	0.66195	0.32994	D	AEFGBHCIJ	0.134599	0.25467	N	-0.387578163074751	0.25910	1.410121	-0.368279065433257	0.25948	1.43021	0.999999999999999	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	5.0	3.01	0.33872	4.367000	0.59270	6.267000	0.55357	0.651000	0.53179	0.985000	0.35982	1.000000	0.68203	0.965000	0.52897	0.094:0.0:0.7203:0.1857	6.088	0.19200	416	0.81733	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	648.63	33	chr17	73232240	.	G	C	648.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.42;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.597;SOR=0.739	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1148	6	0	1	0
chr17	74369559	74369559	G	A	exonic	GPR142	.	nonsynonymous SNV	GPR142:NM_001331076:exon2:c.G19A:p.G7R,GPR142:NM_001331077:exon2:c.G19A:p.G7R,GPR142:NM_181790:exon2:c.G335A:p.R112Q	.	403	1105	13	1	0	15	0.00674157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0007	0.000599042	0.0012	0.0007	0.0110	0	0	0.0019	0	0.0003	0.0005886	91	154602	rs145323799	0.0009	0.0009	0.0008	0.0009	0.0170	0.0008	0.0008	0.0143	0.0133	0.0006	0.0029	0.0023	0	4.043e-05	0.0170	0.0007	0.0016	0.0007	0.0008	0.0008	0.0008	0.0009	0.0031	0.0007	0.0007	0.0024	0.0021	0.0002	0	0.0031	0.0009	0	0	0.0171	0.0007	0.0028	0.0008	0.224	0.18691	T	0.0	0.92824	D	0.01	0.15535	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-0.33	0.68329	T	-0.25	0.11008	N	0.093	0.07262	-1.0490	0.14677	T	0.104	0.38144	T	9	0.0051439106	0.00112	T	.	.	.	0.033	0.08068	.	.	0.576774385015	0.57347	0.13291447171295942	0.13215	0.132070076647	0.14885	0.214999228716	0.01041	T	0.004042	0.03453	T	-0.626178	0.00101	T	-0.675288	0.07273	T	0.0195211494218683	0.00656	T	0.481052	0.14533	T	0.023863943	0.01163	0.031542506	0.01758	0.023863943	0.01163	0.031542506	0.01758	-3.376	0.14735	T	.	.	0.081	0.08224	B	.	.	0.701099	0.10700	7.393	0.99516629065824425	0.68979	0.00876	0.03464	N	AEFGBI	0.045987	0.07585	N	-1.11083181261541	0.06449	0.2969175	-1.13407542532562	0.07057	0.3418765	0.201582896513629	0.18130	0.615755	0.39536	0	0.607795	0.50457	0	0.618376	0.41669	0	0.562822	0.20929	0	.	.	3.58	-3.08	0.05022	-0.865000	0.04358	-1.484000	0.05335	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.092000	0.17891	0.3907:0.0:0.4503:0.159	4.250	0.10142	788	0.46569	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015432	0.015152	0.016949	0.026786	0.000000	0.017544	0.009259	0.003876	0.07143	554.49	33	chr17	74369559	.	G	A	554.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.237;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.6;ReadPosRankSum=0.743;SOR=0.735	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1014	6	0	1	0
chr17	74588549	74588549	A	G	exonic	CD300LD	.	nonsynonymous SNV	CD300LD:NM_001115152:exon2:c.T341C:p.I114T	.	429	1069	23	1	0	25	0.011558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	9.7e-05	0.00299521	0.0028	0.0004	0.0003	0	0	0.0004	0.0022	0.0197	0.0023221	359	154602	rs373622492	0.0012	0.0012	0.0007	0.0017	0.0158	0.0011	0.0011	0.0151	0.0148	2.989e-05	0.0001	3.831e-05	2.52e-05	0.0001	0.0078	0.0002	0.0013	0.0158	0.0007	0.0007	0.0003	0.0011	0.0153	0.0006	0.0005	0.0125	0.0115	0.0002	0	0.0001	0	0	0	0	0.0002	0.0024	0.0153	1.0	0.00964	T	0.511	0.10785	T	0.001	0.07471	B	0.001	0.04355	B	0.576823	0.05512	N	1.319570	1	0.08975	N	-1.36	0.00644	N	3.67	0.04188	T	2.05	0.00383	N	0.02	0.00308	-0.8770	0.49997	T	0.003	0.01092	T	10	0.0029604733	0.00048	T	.	.	.	0.011	0.01250	.	.	0.0716867268079	0.06686	0.40127413191323485	0.40042	0.0287764771953	0.02960	0.299900650978	0.10386	T	0.002577	0.01964	T	-0.813431	0.00006	T	-0.92824	0.00339	T	0.0143576098293748	0.00287	T	0.0323468	0.00208	T	0.028293667	0.02144	0.0371623	0.03312	0.028293667	0.02144	0.0371623	0.03312	-2.345	0.04807	T	.	.	0.072	0.04396	B	.	.	-2.012146	0.00098	0.002	0.4171693841533809	0.03028	0.00162	0.00966	N	AEFDGBI	0.023171	0.01255	N	-2.05473229198525	0.00161	0.006888032	-2.05754448689937	0.00230	0.01015613	0.952734288663424	0.28032	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.67	-8.6	0.00773	-4.939000	0.00196	-20.000000	0.00162	-1.331000	0.01216	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3773:0.3251:0.2976:0.0	6.319	0.20415	861	0.33516	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.015152	0.07143	2454.44	34	chr17	74588549	.	A	G	2454.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.899;DP=367;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.876;SOR=0.723	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1274	6	0	1	0
chr17	74763472	74763472	G	A	exonic	SLC9A3R1	.	nonsynonymous SNV	SLC9A3R1:NM_004252:exon3:c.G709A:p.E237K	Nephrolithiasis/osteoporosis, hypophosphatemic, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1013109	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.148	0.0266908402685	7.7e-05	.	1.186e-05	0	0	0	0	2.15e-05	0	0	6.5e-06	1	154602	rs369327875	3.837e-05	3.831e-05	3.135e-05	4.546e-05	0.0003	3.03e-05	2.723e-05	6.096e-05	3.374e-05	2.99e-05	0	0	0	0	0.0003	4.77e-05	0	0	3.941e-05	3.94e-05	6.42e-05	1.344e-05	5.879e-05	1.715e-05	1.129e-05	1.972e-05	1.124e-05	4.822e-05	0	0	0	0	0	0	5.879e-05	0	0	0.066	0.36113	T	0.212	0.27325	T	0.757	0.43436	P	0.148	0.34065	B	0.004789	0.33389	N	0.268590	0.959908	0.39191	D	2.32	0.66415	M	1.55	0.29866	T	-2.34	0.51811	N	0.643	0.72925	-1.0343	0.19078	T	0.073	0.29578	T	9	0.50283545	0.61648	D	0.026691	0.49576	D	0.148	0.39182	.	.	0.257292322809	0.25322	0.47891487994150506	0.47811	0.310324487314	0.33353	0.463895857334	0.33844	T	0.375851	0.73937	T	-0.224548	0.17376	T	-0.373152	0.36521	T	0.26351536313275	0.23468	T	0.957404	0.83962	D	0.1681744	0.37259	0.13780713	0.32929	0.1681744	0.37258	0.13780713	0.32928	-9.301	0.69613	D	.	.	0.193	0.41310	B	.;.	.;.	4.254431	0.64600	24.7	0.98617135626638264	0.43718	0.95646	0.65559	D	AEFDBCIJ	0.882594	0.81085	D	0.205975655394746	0.51488	3.329657	0.222246539675045	0.51084	3.294046	0.999999999868811	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.45	4.48	0.53973	6.371000	0.73054	9.810000	0.81742	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.671000	0.33280	0.0762:0.0:0.7747:0.149	8.792	0.34016	707	0.57054	EBP50, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001012	0.000000	0.000000	0.002941	0.000000	0.008621	0.000000	0.000000	0.07143	68.44	38	chr17	74763472	.	G	A	68.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.674;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.11;ReadPosRankSum=-1.15;SOR=0.446	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr17	74854900	74854900	G	A	exonic	GRIN2C	.	nonsynonymous SNV	GRIN2C:NM_000835:exon2:c.C193T:p.L65F,GRIN2C:NM_001278553:exon2:c.C193T:p.L65F	.	430	1048	39	5	0	49	0.0228438	.	.	.	729756	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.029	0.0106221511673	0.0049	0.00259585	0.0050	0.0008	0.0026	0	0.0032	0.0068	0.0035	0.0051	0.0048512	750	154602	rs78349823	0.0063	0.0063	0.0061	0.0065	0.0197	0.0062	0.0061	0.0167	0.0156	0.0010	0.0029	0.0036	0	0.0038	0.0197	0.0070	0.0059	0.0055	0.0045	0.0045	0.0049	0.0040	0.0069	0.0042	0.0041	0.0064	0.0061	0.0012	0.0022	0.0051	0.0055	0	0.0030	0.0272	0.0069	0.0076	0.0027	0.008	0.58626	D	0.017	0.60337	D	0.93	0.51791	P	0.573	0.49966	P	0.020133	0.27106	N	0.344090	0.837722	0.28673	N	1.79	0.46772	L	2.77	0.11407	T	-1.76	0.41618	N	0.14	0.14905	-1.1322	0.01680	T	0.027	0.11397	T	10	0.009157836	0.00207	T	0.010622	0.27366	T	0.029	0.06676	.	.	0.726739929651	0.72432	0.49833384254028434	0.49754	1.19053074043	0.80270	0.541441082954	0.44649	T	0.235419	0.60267	T	-0.598941	0.00148	T	-0.629108	0.10482	T	0.0149162963541447	0.00317	T	0.789321	0.42944	T	0.114562035	0.27043	0.15262114	0.35901	0.114562035	0.27043	0.15262114	0.35900	-8.72	0.65877	D	.	.	0.100	0.28086	B	.;.	.;.	4.403692	0.68060	25.2	0.97318716847729081	0.33365	0.91189	0.53035	D	AEFBI	0.310797	0.41671	N	0.315904096523676	0.56964	3.862214	0.307413121967798	0.55973	3.760336	0.100368974678565	0.16352	0.580535	0.33130	0	0.626922	0.53725	0	0.616487	0.41570	0	0.530356	0.10902	0	.	.	4.4	3.36	0.37579	2.755000	0.47219	5.486000	0.48735	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.903000	0.43903	0.0:0.3511:0.3869:0.262	6.989	0.23927	900	0.24599	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012097	0.005051	0.009511	0.023392	0.000000	0.025862	0.012195	0.011364	0.07143	871.63	30	chr17	74854900	.	G	A	871.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.028;DP=269;ExcessHet=0;FS=0.83;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=-1.75;SOR=0.591	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,120,1320	6	0	1	0
chr17	74930870	74930870	C	G	exonic	OTOP2	.	nonsynonymous SNV	OTOP2:NM_178160:exon6:c.C1235G:p.A412G	.	426	1095	1	0	0	1	0.000456413	.	.	.	3374453	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.152	0.023663192196	.	.	9.892e-05	0	0	0	0	0.0002	0	0	7.76e-05	12	154602	rs751207230	4.446e-05	4.446e-05	3.811e-05	5.088e-05	5.396e-05	3.575e-05	3.257e-05	4.265e-05	3.837e-05	0	2.236e-05	3.826e-05	0	0	0	5.396e-05	4.967e-05	0	5.259e-05	5.254e-05	3.855e-05	6.729e-05	8.821e-05	2.558e-05	1.831e-05	3.762e-05	2.575e-05	2.415e-05	0	6.541e-05	0	0	0	0	8.821e-05	0	0	0.023	0.48186	D	0.015	0.61642	D	0.998	0.73220	D	0.939	0.67449	D	0.003350	0.35069	N	0.313296	0.663864	0.33077	D	2.485	0.72352	M	1.95	0.22474	T	-3.12	0.63782	D	0.549	0.57775	-0.8789	0.49848	T	0.108	0.39123	T	10	0.50320613	0.61668	D	0.023663	0.46630	T	0.152	0.39956	.	.	0.226586394389	0.22295	0.5361457981282575	0.53539	0.61337076957	0.55906	0.471367239952	0.34869	T	0.118094	0.43866	T	-0.271069	0.11638	T	-0.37884	0.35860	T	0.640190124511719	0.38045	D	0.832017	0.49964	T	0.15132125	0.34406	0.21674287	0.46313	0.15132125	0.34405	0.21674287	0.46312	-5.321	0.40150	T	.	.	0.145	0.32202	B	.;.	.;.	3.845118	0.55667	23.6	0.99662274196888945	0.78011	0.97639	0.76082	D	AEFDGBI	0.808786	0.73247	D	0.518297003680298	0.68171	5.180804	0.478068821839551	0.66538	4.965297	0.999998383274967	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	5.47	5.47	0.80345	4.857000	0.62639	1.119000	0.24226	0.599000	0.40250	0.979000	0.35152	0.108000	0.22760	0.602000	0.31438	0.0:0.9245:0.0:0.0755	12.694	0.56358	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1054.44	35	chr17	74930870	.	C	G	1054.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.721;DP=283;ExcessHet=0;FS=0.772;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=1.74;SOR=0.836	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1495	6	0	1	0
chr17	74933465	74933465	G	A	exonic	OTOP2	.	nonsynonymous SNV	OTOP2:NM_178160:exon7:c.G1609A:p.V537I	.	426	1081	14	1	0	16	0.00734619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	.	0.0079	0.00279553	0.0064	0.0018	0.0046	0.0001	0.0009	0.0090	0.0066	0.0055	0.0066946	1035	154602	rs34788249	0.0096	0.0096	0.0097	0.0094	0.0127	0.0094	0.0094	0.0108	0.0107	0.0015	0.0055	0.0150	2.519e-05	0.0008	0.0127	0.0110	0.0087	0.0051	0.0059	0.0059	0.0063	0.0055	0.0095	0.0056	0.0055	0.0089	0.0086	0.0019	0.0011	0.0052	0.0138	0	0.0006	0.0102	0.0095	0.0061	0.0052	0.046	0.40573	D	0.066	0.44501	T	0.999	0.77913	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	0.999888	0.50402	D	2.16	0.60381	M	1.95	0.22474	T	-0.71	0.20145	N	0.413	0.45331	-1.1242	0.02082	T	0.075	0.30303	T	10	0.010299116	0.00230	T	.	.	.	0.179	0.44899	.	.	0.19670166235	0.19296	0.6250652161764596	0.62439	0.413355067724	0.42048	0.649467468262	0.59911	T	0.042562	0.26223	T	-0.452392	0.01093	T	-0.412219	0.31968	T	0.0296275787321491	0.01932	T	0.861414	0.55526	D	0.16125123	0.36122	0.12833695	0.30877	0.16125123	0.36121	0.12833695	0.30876	-6.29	0.48642	T	.	.	0.131	0.28145	B	.;.	.;.	5.042730	0.83940	28.2	0.99890500723082865	0.96436	0.97594	0.75777	D	AEFDBI	0.758346	0.69702	D	0.670588931281349	0.77705	6.726583	0.657802090988131	0.79193	7.030946	0.972778937095971	0.29399	0.603402	0.35316	0	0.563428	0.19063	0	0.548873	0.18574	0	0.63947	0.58350	0	.	.	4.96	4.96	0.65153	8.097000	0.89373	11.756000	0.95519	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0825:0.0:0.9175:0.0	11.698	0.50818	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	821.46	34	chr17	74933465	.	G	A	821.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.874;DP=267;ExcessHet=0;FS=0.778;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=0.735;SOR=0.8	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1098	6	0	1	0
chr17	75261947	75261947	C	T	exonic	MRPS7	.	nonsynonymous SNV	MRPS7:NM_015971:exon1:c.C47T:p.A16V	.	420	1070	30	2	0	34	0.0156394	.	.	.	375699	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.012	0.00440502357384	0.0048	0.00199681	0.0041	0.0010	0.0020	0	0.0018	0.0064	0.0047	0.0015	0.004075	630	154602	rs148590649	0.0064	0.0064	0.0065	0.0063	0.0087	0.0063	0.0062	0.0072	0.0072	0.0010	0.0029	0.0104	0	0.0011	0.0087	0.0074	0.0073	0.0018	0.0042	0.0041	0.0046	0.0037	0.0069	0.0039	0.0038	0.0064	0.0062	0.0011	0.0011	0.0031	0.0098	0	0.0017	0.0136	0.0069	0.0038	0.0015	0.093	0.31532	T	0.109	0.37449	T	0.001	0.07471	B	0.001	0.04355	B	0.543857	0.11507	N	0.790916	0.999996	0.19486	N	1.25	0.31749	L	0.88	0.46028	T	-1.08	0.28084	N	0.074	0.04790	-1.0313	0.20034	T	0.039	0.16849	T	10	0.004424423	0.00090	T	0.004405	0.10749	T	0.012	0.01476	.	.	0.39162414616	0.38777	0.20479041683626842	0.20396	0.106932719672	0.12074	0.411379814148	0.26648	T	0.083355	0.37035	T	-0.674956	0.00051	T	-0.735623	0.04077	T	0.00287881512666747	0.00030	T	0.572743	0.20478	T	0.04553133	0.07468	0.06726032	0.13890	0.042661298	0.06510	0.081164576	0.18424	-3.768	0.20327	T	.	.	0.106	0.19478	B	.;.	.;.	0.557856	0.09265	6.046	0.97827559812911991	0.36239	0.01822	0.05664	N	ALL	0.490382	0.52788	N	-1.23831444075301	0.04456	0.2011343	-1.30448623569655	0.04372	0.2060572	0.999999999999999	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.66	-4.2	0.03562	-2.554000	0.01001	-1.661000	0.04965	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2196:0.3363:0.1083:0.3358	1.128	0.01632	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009119	0.000000	0.006793	0.014706	0.000000	0.000000	0.009259	0.018939	0.07143	530.83	30	chr17	75261947	.	C	T	530.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.66;DP=199;ExcessHet=0;FS=1.227;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=0.403;SOR=1.075	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1259	6	0	1	0
chr17	75265797	75265797	G	C	exonic	MRPS7	.	nonsynonymous SNV	MRPS7:NM_015971:exon5:c.G603C:p.M201I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.428	0.0289919388967	.	.	3.305e-05	0	0	0	0	6.014e-05	0	0	3.23e-05	5	154602	rs541221529	6.157e-06	6.156e-06	4.084e-06	8.251e-06	0.0002	2.9e-06	2.1e-06	3.85e-06	1.44e-06	0	2.236e-05	0	0	0	0.0002	3.597e-06	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.018	0.59732	D	0.871	0.47859	P	0.622	0.51475	P	0.000000	0.84330	D	0.074685	1	0.81001	D	2.575	0.75298	M	0.7	0.51474	T	-2.08	0.47514	N	0.542	0.60495	-0.4966	0.68772	T	0.282	0.65419	T	10	0.8889209	0.88229	D	0.028992	0.51576	D	0.428	0.73517	0.834	0.94231	0.820746442501	0.81905	0.8056795354137712	0.80522	0.167327546539	0.18878	0.515054225922	0.40931	T	0.15538	0.49709	T	0.0252622	0.55088	T	-0.071038	0.65552	T	0.527216255664825	0.33631	D	0.842916	0.51943	T	0.57948357	0.71580	0.34238797	0.59966	0.57948357	0.71581	0.34238797	0.59965	-6.477	0.50109	T	0.3762959700951639	0.47124	0.536	0.69251	A	.;.	.;.	4.092015	0.60950	24.3	0.98572580826677092	0.43128	0.97423	0.74656	D	ALL	0.957049	0.97598	D	0.80517730767526	0.86431	8.882677	0.820252477823533	0.91164	10.75037	1.0	0.98316	0.730579	0.87903	0	0.697927	0.68747	0	0.702456	0.68683	0	0.648885	0.59868	0	.	.	6.07	6.07	0.98675	8.039000	0.89191	11.766000	0.95743	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.295000	0.24381	0.0:0.0:1.0:0.0	20.659	0.99629	964	0.07719	Ribosomal protein S7 domain;Ribosomal protein S7 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1580.83	37	chr17	75265797	.	G	C	1580.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.512;DP=261;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.76;ReadPosRankSum=1.28;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1119:.	6	0	1	0
chr17	75265798	75265798	C	A	exonic	MRPS7	.	nonsynonymous SNV	MRPS7:NM_015971:exon5:c.C604A:p.P202T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0116173789326	.	.	3.305e-05	0	0	0	0	6.014e-05	0	0	3.23e-05	5	154602	rs780133586	6.157e-06	6.156e-06	4.084e-06	8.251e-06	0.0002	2.9e-06	2.1e-06	3.85e-06	1.44e-06	0	2.236e-05	0	0	0	0.0002	3.597e-06	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.166	0.36630	T	0.998	0.73220	D	0.971	0.72444	D	0.000079	0.52346	D	0.174447	0.999826	0.49512	D	1.36	0.34107	L	0.91	0.44856	T	-5.21	0.83763	D	0.33	0.48042	-0.9376	0.42994	T	0.197	0.55144	T	10	0.3838734	0.54395	T	0.011617	0.29427	T	0.219	0.51417	0.345	0.33950	0.810416777937	0.80863	0.575735718204754	0.57502	0.482861853438	0.47245	0.52475631237	0.42296	T	0.338228	0.70751	T	-0.142756	0.29453	T	-0.312385	0.43402	T	0.573661100480921	0.35375	D	0.931507	0.74506	D	0.4021512	0.60881	0.414239	0.65573	0.4021512	0.60882	0.414239	0.65574	-5.755	0.44180	T	0.2881718317311908	0.38441	0.148	0.36355	B	.;.	.;.	3.330303	0.45847	22.2	0.96837410235301591	0.31289	0.93424	0.58180	D	ALL	0.789210	0.71847	D	0.646882426951217	0.76166	6.436735	0.67579094474032	0.80546	7.322606	0.999999993710409	0.74766	0.730579	0.87903	0	0.697927	0.68747	0	0.702456	0.68683	0	0.648885	0.59868	0	.	.	6.17	6.17	0.99707	3.934000	0.56265	5.935000	0.51384	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.307000	0.24666	0.0:0.9315:0.0:0.0685	13.996	0.63912	964	0.07719	Ribosomal protein S7 domain;Ribosomal protein S7 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1580.83	37	chr17	75265798	.	C	A	1580.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.835;DP=263;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.76;ReadPosRankSum=1.02;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1119:.	6	0	1	0
chr17	75523320	75523320	C	T	exonic	TSEN54	.	nonsynonymous SNV	TSEN54:NM_207346:exon9:c.C1298T:p.P433L	Pontocerebellar hypoplasia type 2A, Autosomal recessive;Pontocerebellar hypoplasia type 4, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0113416906413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.394	0.10694	T	0.376	0.16182	T	0.0	0.02946	B	0.0	0.01387	B	0.053086	0.22838	N	0.484669	0.991682	0.23998	N	.	.	.	0.12	0.61089	T	-0.38	0.13418	N	0.041	0.01421	-1.0536	0.13413	T	0.066	0.27052	T	10	0.07946989	0.12787	T	0.011342	0.28865	T	0.046	0.12618	0.247	0.18293	0.694207414327	0.69157	0.1259305879821339	0.12519	0.266466125638	0.29189	0.462187886238	0.33610	T	0.011048	0.09905	T	-0.220151	0.17973	T	-0.554008	0.16943	T	0.779536485671997	0.45021	D	0.517048	0.16713	T	0.031009087	0.02865	0.032747485	0.02059	0.031009087	0.02864	0.032747485	0.02058	-4.077	0.24950	T	0.030592412168988687	0.00089	0.075	0.05668	B	.	.	2.303027	0.29470	18.13	0.91603425363988744	0.20887	0.61068	0.31377	D	AEFDBCI	0.041029	0.06184	N	-0.443311022574373	0.23968	1.290843	-0.211543843037219	0.31119	1.758275	0.986292630067243	0.31038	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.699875	0.68795	0	.	.	5.23	4.23	0.49319	2.094000	0.41344	3.947000	0.40646	0.599000	0.40250	0.985000	0.35982	0.999000	0.35428	0.949000	0.49496	0.1857:0.7171:0.0:0.0971	6.297	0.20297	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1142.45	94	chr17	75523320	.	C	T	1142.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.796;DP=299;ExcessHet=0;FS=3.896;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-0.688;SOR=0.445	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1364:.	6	0	1	0
chr17	75564463	75564463	G	A	exonic	LLGL2	.	nonsynonymous SNV	LLGL2:NM_001015002:exon10:c.G992A:p.R331H,LLGL2:NM_001031803:exon10:c.G992A:p.R331H,LLGL2:NM_004524:exon10:c.G992A:p.R331H	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.513	0.0443561989416	.	.	3.329e-05	0.0002	0.0002	0	0	0	0	0	2.59e-05	4	154602	rs745709991	1.643e-05	1.71e-05	1.77e-05	1.513e-05	8.945e-05	1.111e-05	9.34e-06	2.985e-05	1.804e-05	2.987e-05	8.945e-05	0	2.519e-05	0	0	1.259e-05	0	4.637e-05	6.57e-05	6.567e-05	8.993e-05	4.034e-05	0.0001	3.516e-05	2.616e-05	4.738e-05	3.053e-05	0.0001	0	6.544e-05	0	0	0	0	5.88e-05	0	0	0.003	0.72154	D	0.01	0.69154	D	1.0	0.90584	D	0.993	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	3.39	0.32958	T	-4.14	0.75456	D	0.848	0.86085	-0.6528	0.62592	T	0.219	0.58201	T	10	0.85011923	0.84188	D	0.044356	0.61447	D	0.513	0.79156	.	.	0.769647611133	0.76753	0.5755726003015361	0.57486	0.935818021224	0.72008	0.688752293587	0.65526	T	0.34447	0.71298	T	0.0852383	0.62648	D	0.121331	0.78323	D	0.916878342628479	0.57448	D	0.985701	0.95215	D	0.49093568	0.66559	0.30839118	0.56858	0.49093568	0.66560	0.30839118	0.56857	-8.413	0.63851	D	.	.	0.190	0.60522	B	.;.;.;.;.	.;.;.;.;.	5.734729	0.93297	33	0.98927716217663408	0.48676	0.97689	0.76430	D	AEFGBCI	0.951770	0.96663	D	0.825998328645645	0.87703	9.310581	0.769976104304895	0.87641	9.292545	0.999999999999971	0.74766	0.736574	0.97449	0	0.588066	0.40923	0	0.732669	0.93749	0	0.655142	0.61905	0	.	.	5.12	5.12	0.69459	9.940000	0.98890	11.777000	0.96009	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.0:0.0:1.0:0.0	18.912	0.92459	981	0.03995	.;.;Lethal giant larvae homologue 2;.;Lethal giant larvae homologue 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	723.45	34	chr17	75564463	.	G	A	723.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.718;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-0.065;SOR=0.601	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr17	75573167	75573167	G	A	exonic	LLGL2	.	nonsynonymous SNV	LLGL2:NM_001031803:exon20:c.G2614A:p.D872N,LLGL2:NM_004524:exon20:c.G2614A:p.D872N	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.0256471156263	.	.	3.364e-05	0	8.694e-05	0	0	1.543e-05	0	0.0001	4.53e-05	7	154602	rs544148129	2.259e-05	2.257e-05	2.316e-05	2.202e-05	0.0002	1.611e-05	1.417e-05	4.579e-05	3.272e-05	0	4.473e-05	0	2.519e-05	0	0.0002	1.619e-05	4.969e-05	9.275e-05	3.942e-05	3.939e-05	3.853e-05	4.034e-05	0.0004	1.715e-05	1.129e-05	7.276e-05	3.024e-05	4.825e-05	0	6.54e-05	0	0	0	0	1.47e-05	0	0.0004	0.001	0.78490	D	0.007	0.69154	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.048346	0.999994	0.58761	D	2.31	0.66127	M	3.5	0.05014	T	-3.85	0.72353	D	0.738	0.74189	-1.1288	0.01840	T	0.064	0.26420	T	10	0.84120077	0.83276	D	0.025647	0.48608	D	0.307	0.62838	0.662	0.79996	0.797593618023	0.79571	0.37359713439094694	0.37273	0.78403514646	0.65415	0.664252638817	0.62017	T	0.305217	0.67748	T	-0.273244	0.11397	T	-0.427618	0.30205	T	0.821618318557739	0.47892	D	0.893911	0.63238	D	0.9012901	0.91499	0.63365036	0.78619	0.9012901	0.91500	0.63365036	0.78620	-9.746	0.72377	D	.	.	0.396	0.59336	A	.;.;.	.;.;.	5.806362	0.93636	33	0.99057038409766884	0.51390	0.98004	0.78799	D	AEFDGBHCI	0.945461	0.95379	D	0.71844112702623	0.80841	7.384592	0.652134157610016	0.78770	6.943555	0.99999998322717	0.74766	0.718356	0.82227	0	0.694456	0.67091	0	0.570548	0.19454	0	0.604944	0.38103	0	.	.	4.63	4.63	0.57175	9.940000	0.98890	11.783000	0.96163	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.727	0.88274	981	0.03995	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.07143	445.63	44	chr17	75573167	.	G	A	445.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.41;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-0.637;SOR=0.722	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1114	6	0	1	0
chr17	75588613	75588613	C	T	exonic	MYO15B	.	nonsynonymous SNV	MYO15B:NM_001309242:exon1:c.C556T:p.P186S	.	957	563	2	0	0	2	0.00177305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878971662	9.698e-05	5.725e-05	6.555e-05	0.0001	0.0010	6.652e-05	5.603e-05	0.0003	0.0001	0	0.0001	0.0008	0	0	0.0008	6.333e-05	0.0001	0.0010	3.941e-05	3.94e-05	3.853e-05	4.033e-05	0.0002	1.715e-05	1.129e-05	.	.	0	0	0	0.0012	0	0	0	1.47e-05	0	0.0002	.	.	.	0.598	0.07999	T	.	.	.	.	.	.	.	.	.	.	0.999848	0.20103	N	.	.	.	.	.	.	.	.	.	0.052	0.02366	.	.	.	.	.	.	.	0.059487253	0.07159	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015798	0.13179	T	.	.	.	.	.	.	.	.	.	0.49565	0.15376	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24396	B	.;.	.;.	0.912622	0.12870	9.383	0.89608894600112754	0.18944	0.03585	0.08804	N	AEFDGBCIJ	.	.	.	.	.	.	.	.	.	0.999984324890366	0.51787	0.199473	0.04044	0	0.102296	0.03086	2	0.215285	0.04585	0	0.127398	0.03941	1	0.0804662	0.18502	2.63	-0.648	0.10889	0.096000	0.14986	0.669000	0.20577	0.450000	0.21304	0.000000	0.06391	0.032000	0.21310	0.015000	0.10482	0.2318:0.3923:0.2273:0.1485	1.051	0.01482	963	0.08280	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	365.45	27	chr17	75588613	.	C	T	365.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.499;DP=184;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=-1.734;SOR=0.61	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1066	6	0	1	0
chr17	75621533	75621535	TGA	-	exonic	MYO15B	.	nonframeshift deletion	MYO15B:NM_001309242:exon51:c.7854_7856del:p.D2620del	.	413	1105	4	0	0	4	0.00180668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0.0005	0	0.0003	9.7e-05	15	154602	rs748336648	0.0004	0.0003	0.0003	0.0004	0.0005	0.0003	0.0003	0.0004	0.0004	6.332e-05	0.0001	0	0	0.0006	0.0002	0.0005	0.0003	7.966e-05	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	4.824e-05	0	0	0	0	0.0002	0	0.0006	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	70.4	31	chr17	75621532	.	GTGA	G	70.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=198;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=23.47;ReadPosRankSum=0;SOR=0.223	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1235	6	0	1	0
chr17	75631193	75631193	C	T	exonic	RECQL5	.	nonsynonymous SNV	RECQL5:NM_004259:exon10:c.G1505A:p.R502Q	.	396	1124	2	0	0	2	0.000888889	.	.	.	3510261	RECQL5-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.120	0.0146429376337	7.7e-05	.	4.147e-05	0	0	0	0	7.512e-05	0	0	3.23e-05	5	154602	rs200732170	5.542e-05	5.541e-05	6.127e-05	4.951e-05	0.0010	4.544e-05	4.156e-05	0.0005	0.0003	8.961e-05	0	0	0	0	0.0010	5.126e-05	0.0001	8.116e-05	3.941e-05	3.94e-05	3.853e-05	4.034e-05	8.82e-05	1.715e-05	1.129e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.82e-05	0	0	0.029	0.45756	D	0.074	0.42976	T	0.915	0.50599	P	0.372	0.43610	B	0.003290	0.35154	N	0.242951	0.999105	0.46078	D	1.7	0.43825	L	0.16	0.60610	T	-2.83	0.59710	D	0.46	0.50418	-0.8814	0.49650	T	0.161	0.49631	T	10	0.36676294	0.53163	T	0.014643	0.34889	T	0.120	0.33359	.	.	0.716472666699	0.71398	0.3680706392373733	0.36721	0.207598512814	0.23217	0.519183635712	0.41512	T	0.279484	0.65217	T	-0.109754	0.34807	T	-0.209526	0.53740	T	0.5982745885849	0.36332	D	0.889711	0.62218	D	0.13257124	0.30865	0.09701677	0.23075	0.13257124	0.30865	0.09701677	0.23074	-4.942	0.36861	T	.	.	0.103	0.18331	B	.;.	.;.	2.914617	0.38671	20.8	0.99185443465139111	0.54819	0.81242	0.40687	D	AEFBI	0.245607	0.36651	N	0.371068396733937	0.59859	4.169098	0.426407661434016	0.63217	4.550971	0.998424053712885	0.36942	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.69	4.72	0.59248	1.812000	0.38590	1.025000	0.23435	0.599000	0.40250	0.998000	0.41325	0.522000	0.25315	0.961000	0.51904	0.0:0.9236:0.0:0.0764	13.175	0.59043	975	0.05339	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	708.63	37	chr17	75631193	.	C	T	708.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.25;DP=234;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.016;SOR=0.627	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	6	0	1	0
chr17	75840272	75840272	G	A	exonic	UNC13D	.	nonsynonymous SNV	UNC13D:NM_199242:exon10:c.C811T:p.P271S	Hemophagocytic lymphohistiocytosis, familial, 3	0	1509	13	0	0	13	0.00428901	.	.	YES	727449	Familial_hemophagocytic_lymphohistiocytosis_3|UNC13D-related_disorder|Autoinflammatory_syndrome|not_specified	MONDO:MONDO:0012146,MedGen:C1837174,OMIM:608898,Orphanet:540|.|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.188	0.0902969129249	0.0005	0.000199681	0.0005	0	0.0002	0	0.0002	0.0004	0	0.0021	0.0004528	70	154602	rs139564938	0.0004	0.0004	0.0003	0.0005	0.0020	0.0004	0.0004	0.0017	0.0016	5.974e-05	4.472e-05	3.826e-05	0	0.0003	0.0009	0.0003	0.0003	0.0020	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0004	0.0003	7.217e-05	0	6.536e-05	0	0	0.0002	0	0.0003	0.0005	0.0010	0.05	0.39575	D	0.0	0.92824	D	0.961	0.55431	D	0.493	0.47443	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.61	0.41143	L	-0.26	0.75553	T	-0.96	0.26200	N	0.593	0.61256	-0.4877	0.69090	T	0.392	0.74583	T	10	0.03374952	0.01560	T	0.090297	0.75492	D	0.188	0.46444	.	.	0.889897263343	0.88881	0.3016775488594237	0.30080	0.509211686747	0.49061	0.605855643749	0.53731	T	0.118391	0.43917	T	-0.177881	0.24050	T	-0.0347663	0.68052	D	0.072971708485082	0.09062	T	0.908909	0.75346	D	0.17823051	0.38832	0.15995055	0.37278	0.17955011	0.39032	0.1412336	0.33639	-11.778	0.83752	D	0.4083759729414983	0.49909	0.348	0.66854	A	.;.;.;.	.;.;.;.	4.630066	0.73600	26.0	0.99915733034069731	0.98379	0.99184	0.92469	D	AEFDBI	0.910861	0.86935	D	0.525613366353833	0.68609	5.240858	0.539581637013468	0.70676	5.540299	0.999999921708331	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.56	4.56	0.55644	7.527000	0.80826	11.602000	0.93483	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	17.527	0.87701	940	0.13648	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.007576	0.07143	970.49	85	chr17	75840272	.	G	A	970.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.704;DP=309;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=1.03;SOR=0.739	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	6	0	1	0
chr17	75900995	75900995	G	A	exonic	MRPL38	.	nonsynonymous SNV	MRPL38:NM_032478:exon6:c.C697T:p.L233F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0261304332244	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455019063	3.423e-06	3.42e-06	1.362e-06	5.507e-06	2.241e-05	1e-06	7.3e-07	7.2e-07	2e-07	0	2.241e-05	0	0	0	0	2.699e-06	1.657e-05	0	6.572e-06	6.567e-06	1.285e-05	0	6.543e-05	0	0	.	.	0	0	6.543e-05	0	0	0	0	0	0	0	0.027	0.46513	D	0.042	0.50226	D	0.681	0.41422	P	0.403	0.44588	B	0.498066	0.11981	N	0.785622	0.995329	0.23318	N	3.005	0.85968	M	0.82	0.48142	T	-2.35	0.51968	N	0.408	0.44857	-0.9991	0.30171	T	0.154	0.48481	T	10	0.34732983	0.51669	T	0.02613	0.49060	D	0.203	0.48915	0.609	0.74182	0.134241683229	0.13084	0.7197692949613189	0.71919	0.375759849977	0.39034	0.363045930862	0.19828	T	0.175425	0.52500	T	-0.167433	0.25624	T	-0.478283	0.24629	T	0.214734822511673	0.21198	T	0.934407	0.75457	D	0.1637735	0.36541	0.11376527	0.27459	0.1637735	0.36541	0.11376527	0.27458	-9.853	0.73027	D	.	.	0.571	0.67673	P	.	.	1.483003	0.19090	14.08	0.98628968496724279	0.43879	0.13280	0.17766	N	AEFBI	0.326471	0.42773	N	-0.978875845040438	0.09056	0.427024	-1.24769576612042	0.05165	0.2454631	0.999999997793155	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.87	-10.8	0.00171	-1.356000	0.02716	-4.061000	0.02365	-0.776000	0.03386	0.000000	0.06391	0.000000	0.08366	0.918000	0.45347	0.0681:0.2626:0.4427:0.2266	7.028	0.24129	846	0.36215	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	505.44	34	chr17	75900995	.	G	A	505.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.49;DP=238;ExcessHet=0;FS=1.133;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=-2.035;SOR=0.99	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr17	76009702	76009702	G	A	exonic	EVPL	.	nonsynonymous SNV	EVPL:NM_001320747:exon22:c.C3569T:p.T1190M,EVPL:NM_001988:exon22:c.C3503T:p.T1168M	.	428	1082	12	0	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00671966571976	0.0015	0.000798722	0.0020	0.0003	0.0017	0	0.0014	0.0030	0.0022	0.0005	0.0018305	283	154602	rs149505943	0.0017	0.0017	0.0016	0.0017	0.0054	0.0016	0.0016	0.0039	0.0034	0.0004	0.0015	0.0010	0.0001	0.0015	0.0054	0.0019	0.0019	0.0006	0.0013	0.0013	0.0014	0.0012	0.0022	0.0012	0.0011	0.0019	0.0018	0.0003	0	0.0012	0.0009	0	0.0011	0.0034	0.0022	0.0005	0.0012	0.107	0.29554	T	0.123	0.39645	T	0.052	0.22494	B	0.004	0.10090	B	0.421143	0.04648	N	1.311150	1	0.08975	N	-0.235	0.03917	N	0.71	0.51228	T	-1.38	0.34198	N	0.108	0.09349	-0.9827	0.34375	T	0.097	0.36393	T	10	0.01211071	0.00262	T	0.00672	0.17756	T	0.052	0.14661	.	.	0.271763555656	0.26798	0.13041537323373056	0.12966	0.195102303501	0.21846	0.218341067433	0.01216	T	0.179364	0.53032	T	-0.670628	0.00054	T	-0.740702	0.03861	T	0.00618340979462972	0.00068	T	0.69743	0.30707	T	0.019573927	0.00490	0.05572513	0.09829	0.019573927	0.00490	0.05572513	0.09828	-5.155	0.38481	T	.	.	0.076	0.06663	B	.;.	.;.	-0.346092	0.02421	0.273	0.91751424161134199	0.21050	0.04602	0.10258	N	AEFDBI	0.133020	0.25254	N	-1.25698212429488	0.04208	0.1895012	-1.36027863212519	0.03686	0.1724602	0.589100319259321	0.21632	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	5.14	-4.79	0.02966	-0.703000	0.05166	-2.582000	0.03583	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.5977:0.0:0.4023:0.0	13.913	0.63382	706	0.57215	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.000000	0.009537	0.002924	0.000000	0.025862	0.006098	0.003788	0.07143	825.53	65	chr17	76009702	.	G	A	825.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.488;DP=254;ExcessHet=0;FS=0.96;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=1.66;SOR=0.507	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1620	6	0	1	0
chr17	76046168	76046168	G	A	exonic	SRP68	.	nonsynonymous SNV	SRP68:NM_001260503:exon4:c.C152T:p.T51M,SRP68:NM_001260502:exon10:c.C1055T:p.T352M,SRP68:NM_014230:exon11:c.C1169T:p.T390M	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.00570942979553	.	.	4.119e-05	0	0	0.0001	0	1.498e-05	0	0.0002	6.5e-06	1	154602	rs757875266	4.105e-05	4.104e-05	3.54e-05	4.676e-05	0.0007	3.245e-05	2.92e-05	0.0002	0.0001	0	2.236e-05	0	2.519e-05	0	0.0007	2.968e-05	3.312e-05	0.0002	2.63e-05	2.627e-05	2.57e-05	2.692e-05	0.0002	8.15e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.037	0.43085	D	0.067	0.44302	T	0.915	0.50599	P	0.281	0.40336	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.14	0.59869	M	.	.	.	-0.52	0.16187	N	0.819	0.81459	-0.7933	0.55537	T	0.192	0.54418	T	9	0.48946342	0.60905	T	0.005709	0.14802	T	0.308	0.62947	0.355	0.35571	0.289847578895	0.28608	0.30126038291242674	0.30039	0.936948820389	0.72059	0.658188164234	0.61151	T	0.029284	0.21018	T	0.253124	0.78892	D	0.362487	0.90796	D	0.124535922705132	0.14867	T	0.868713	0.57175	D	0.1108141	0.26190	0.13834885	0.33043	0.1108141	0.26190	0.13834885	0.33042	-4.987	0.50155	T	.	.	0.094	0.15788	B	.;.;.	.;.;.	4.329353	0.66320	24.9	0.99608899944793539	0.74694	0.99406	0.95621	D	AEFDBIJ	0.860637	0.77854	D	0.44310447529844	0.63811	4.622403	0.4962150905504	0.67739	5.124493	0.999999999246272	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.96	5.96	0.96695	9.323000	0.95598	9.886000	0.82236	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	19.410	0.94658	677	0.60274	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	537.46	34	chr17	76046168	.	G	A	537.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.989;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=-0.325;SOR=0.813	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	6	0	1	0
chr17	76137646	76137646	C	G	exonic	FOXJ1	.	nonsynonymous SNV	FOXJ1:NM_001454:exon3:c.G973C:p.G325R	.	435	1084	3	0	0	3	0.00138185	.	.	.	2199401	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.273	0.0788178927319	7.7e-05	.	0.0001	0	0	0	0	4.731e-05	0	0.0006	5.82e-05	9	154602	rs376918102	4.261e-05	4.309e-05	3.827e-05	4.7e-05	0.0004	3.392e-05	3.079e-05	0.0003	0.0002	0	0	0	0	0	0	2.434e-05	4.992e-05	0.0004	2.626e-05	2.624e-05	2.569e-05	2.686e-05	0.0004	8.14e-06	5.14e-06	7.285e-05	3.027e-05	0	0	6.533e-05	0	0	0	0	1.47e-05	0	0.0004	0.058	0.37750	T	0.102	0.38450	T	0.09	0.25173	B	0.029	0.21540	B	0.125341	0.18846	N	0.519976	0.996144	0.23102	N	1.39	0.34934	L	-3.3	0.93787	D	-0.84	0.22944	N	0.169	0.17966	-0.1257	0.79502	T	0.655	0.88012	D	10	0.082617104	0.13656	T	0.078818	0.73093	D	0.273	0.58883	.	.	0.76131204268	0.75914	0.3252239796785802	0.32435	0.460069184359	0.45564	0.574674487114	0.49336	T	0.164685	0.51023	T	-0.136163	0.30504	T	-0.120986	0.61722	T	0.0473268384746207	0.05023	T	0.778722	0.41238	T	0.03824455	0.05057	0.07321097	0.15885	0.03824455	0.05057	0.07321097	0.15884	-5.382	0.40746	T	.	.	0.249	0.48417	B	.	.	2.850535	0.37631	20.5	0.98444989736519328	0.41553	0.76026	0.37257	D	AEFDBCI	0.360611	0.45051	N	-0.238868064833851	0.31549	1.770221	-0.134078483141107	0.34026	1.952754	0.999837383567981	0.43792	0.766844	0.99359	0	0.59043	0.45803	0	0.851219	0.99655	0	0.63947	0.58350	0	.	.	5.23	3.11	0.34883	0.977000	0.29072	.	.	0.599000	0.40250	0.909000	0.31653	1.000000	0.68203	0.736000	0.35301	0.3153:0.3795:0.0:0.3052	3.555	0.07416	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	588.45	33	chr17	76137646	.	C	G	588.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.405;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-1.596;SOR=0.655	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1334	6	0	1	0
chr17	76387129	76387129	C	T	exonic	SPHK1	.	nonsynonymous SNV	SPHK1:NM_001142602:exon5:c.C698T:p.P233L,SPHK1:NM_001142601:exon6:c.C698T:p.P233L,SPHK1:NM_001355139:exon6:c.C698T:p.P233L,SPHK1:NM_021972:exon6:c.C740T:p.P247L,SPHK1:NM_182965:exon6:c.C956T:p.P319L	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.0280766780786	0.0002	.	5.871e-05	0	8.743e-05	0	0	7.641e-05	0	6.097e-05	6.47e-05	10	154602	rs375151940	6.708e-05	6.704e-05	5.585e-05	7.843e-05	0.0002	5.632e-05	5.175e-05	0.0001	8.648e-05	0	0.0001	0	2.519e-05	0	0.0002	6.295e-05	8.282e-05	0.0002	7.881e-05	7.874e-05	7.71e-05	8.059e-05	0.0006	4.494e-05	3.51e-05	0.0002	8.996e-05	0	0	0.0002	0	0	0	0	8.82e-05	0	0.0006	0.032	0.44694	D	0.039	0.53072	D	0.213	0.30041	B	0.036	0.22909	B	0.000591	0.43095	N	0.202341	0.999994	0.58761	D	2.335	0.66956	M	1.8	0.26301	T	-6.07	0.89871	D	0.238	0.28498	-1.0623	0.11190	T	0.080	0.31586	T	10	0.15943894	0.29957	T	0.028077	0.50806	D	0.182	0.45420	.	.	0.658464116293	0.65560	.	.	0.319406857869	0.34138	0.379330098629	0.22161	T	0.749714	0.93132	D	-0.365584	0.03824	T	-0.503233	0.22014	T	0.103798560798168	0.12770	T	0.771423	0.40183	T	0.5173746	0.68108	0.34780124	0.60429	0.5173746	0.68109	0.34780124	0.60429	-5.516	0.43246	T	.	.	0.112	0.22061	B	.;.;.;.;.	.;.;.;.;.	1.991848	0.25307	16.71	0.97795343335571072	0.36027	0.76348	0.37437	D	AEFDBCI	0.113059	0.22323	N	-0.225739402647682	0.32080	1.805454	-0.230378195690685	0.30453	1.714804	0.999999933325653	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.654045	0.52621	0	0.735409	0.98432	0	.	.	5.08	4.11	0.47350	1.096000	0.30587	.	.	0.599000	0.40250	0.168000	0.23907	0.998000	0.33993	0.007000	0.07825	0.0:0.757:0.0:0.243	8.045	0.29703	832	0.38914	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1171.46	34	chr17	76387129	.	C	T	1171.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.64;DP=279;ExcessHet=0;FS=4.171;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-0.304;SOR=0.804	GT:AD:DP:GQ:PL	0/1:43,41:84:99:1182,0,1135	6	0	1	0
chr17	76477247	76477247	C	T	exonic	RHBDF2	.	nonsynonymous SNV	RHBDF2:NM_001005498:exon8:c.G853A:p.A285T,RHBDF2:NM_001376228:exon8:c.G853A:p.A285T,RHBDF2:NM_001376229:exon8:c.G853A:p.A285T,RHBDF2:NM_001376230:exon8:c.G853A:p.A285T,RHBDF2:NM_024599:exon8:c.G940A:p.A314T	Tylosis with esophageal cancer, Autosomal dominant	0	1512	9	1	0	11	0.00362438	.	.	.	878606	Palmoplantar_keratoderma-esophageal_carcinoma_syndrome|not_provided	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500,Orphanet:2198|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.193	0.0580139184212	0.0007	0.000199681	0.0008	0.0002	0.0008	0	0.0015	0.0010	0	0.0011	0.0007633	118	154602	rs140433374	0.0009	0.0009	0.0008	0.0009	0.0009	0.0008	0.0008	0.0009	0.0009	0.0001	0.0008	0	0	0.0011	0.0009	0.0009	0.0009	0.0008	0.0005	0.0005	0.0004	0.0006	0.0008	0.0004	0.0004	0.0006	0.0005	7.222e-05	0	0.0008	0	0	0.0010	0	0.0007	0.0005	0.0002	0.065	0.36310	T	0.284	0.21411	T	0.891	0.49025	P	0.439	0.51231	B	0.000000	0.84330	D	0.000000	0.999886	0.50402	D	2.31	0.66127	M	-0.41	0.69413	T	-0.43	0.14390	N	0.622	0.72656	-0.3830	0.72558	T	0.430	0.77232	T	10	0.10933587	0.20392	T	0.058014	0.67169	D	0.193	0.47281	.	.	0.797291143822	0.79540	0.6017310933956239	0.60104	1.12451302267	0.78409	0.652512192726	0.60342	T	0.028348	0.20554	T	-0.165145	0.25971	T	-0.0663442	0.65887	T	0.0622759461402893	0.07522	T	0.835117	0.51077	T	0.19177422	0.40819	0.22025919	0.46795	0.20578931	0.42732	0.22975503	0.48056	-3.837	0.22273	T	.	.	0.337	0.55713	B	.;.	.;.	4.786409	0.77637	26.7	0.99890741167737884	0.96513	0.97895	0.77939	D	AEFBI	0.762692	0.70002	D	0.537794676431673	0.69340	5.343313	0.584900715013682	0.73857	6.039547	0.999995910987321	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.645665	0.59343	0	.	.	5.54	5.54	0.82907	5.607000	0.67330	.	.	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.482	0.95005	945	0.12563	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002523	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.003788	0.07143	597.53	34	chr17	76477247	.	C	T	597.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.964;DP=259;ExcessHet=0;FS=0.868;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.47;ReadPosRankSum=-1.887;SOR=0.652	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr17	76540206	76540206	G	A	exonic	PRCD	.	nonsynonymous SNV	PRCD:NM_001077620:exon1:c.G65A:p.R22Q	Retinitis pigmentosa 36	.	.	.	.	.	.	.	.	.	YES	846247	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.052	0.246942352876	.	.	2.603e-05	0	0	0	0	4.664e-05	0	0	1.94e-05	3	154602	rs760704583	7.547e-06	1.094e-05	7.49e-06	7.604e-06	3.406e-05	3.82e-06	2.78e-06	2.84e-06	1.82e-06	3.406e-05	0	0	0	0	0	6.822e-06	3.901e-05	0	2.11e-05	2.066e-05	0	4.379e-05	7.477e-05	5.61e-06	2.56e-06	.	.	0	0	7.477e-05	0	0	0	0	1.523e-05	0.0005	0	.	.	.	0.0	0.92824	D	0.168	0.28654	B	0.02	0.19048	B	.	.	.	.	1	0.81001	D	.	.	.	-1.09	0.77206	T	.	.	.	0.151	0.23253	-1.0239	0.22443	T	0.071	0.29066	T	7	0.13151485	0.25030	T	0.246942	0.88949	D	.	.	0.118	0.02577	0.585473498874	0.58221	0.11204887571484407	0.11133	0.304373407854	0.32745	0.35651537776	0.18877	T	0.280088	0.65278	T	-0.102794	0.35962	T	-0.385433	0.35085	T	0.858042418956757	0.50874	D	0.689931	0.29934	T	0.31217733	0.53974	0.4819153	0.70001	0.31217733	0.53974	0.4819153	0.70001	-4.465	0.30428	T	0.14910820438268613	0.17411	0.121	0.25166	B	.;.	.;.	3.922092	0.57271	23.8	0.99924464272992786	0.98980	0.47681	0.28037	N	AEFGBI	0.211935	0.33767	N	-0.0838264547946866	0.38100	2.226455	0.0254500724438591	0.40901	2.448365	0.999976689622972	0.50053	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	5.0	2.89	0.32713	1.599000	0.36361	.	.	0.676000	0.76740	1.000000	0.71638	0.995000	0.32472	0.985000	0.61073	0.2342:0.0:0.7658:0.0	5.905	0.18235	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	151.83	22	chr17	76540206	.	G	A	151.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.97;DP=172;ExcessHet=0;FS=2.307;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=-0.981;SOR=1.721	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,972	6	0	1	0
chr17	78204851	78204851	C	A	exonic	AFMID	.	nonsynonymous SNV	AFMID:NM_001010982:exon6:c.C418A:p.Q140K,AFMID:NM_001145526:exon6:c.C418A:p.Q140K	.	421	1091	10	0	0	10	0.00456204	.	.	.	2233837	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.454	0.103053250932	.	.	8.242e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs778899836	3.42e-06	3.42e-06	1.361e-06	5.5e-06	0.0003	1e-06	7.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	3.312e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.024	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	0.000025	0.55875	D	0.120865	1	0.81001	D	3.845	0.95734	H	2.82	0.10871	T	-3.23	0.65056	D	0.95	0.95841	-0.7726	0.56714	T	0.128	0.43645	T	10	0.90703505	0.90068	D	0.103053	0.77688	D	0.454	0.75347	0.766	0.89373	0.613339421354	0.61022	0.8944764325683533	0.89418	0.852806470828	0.68627	0.395668447018	0.24466	T	0.255223	0.62599	T	0.349928	0.86500	D	0.361725	0.90767	D	0.992105007171631	0.82506	D	0.853715	0.53996	D	0.9400682	0.95255	0.83114135	0.90258	0.9400682	0.95255	0.83114135	0.90259	-13.351	0.91068	D	.	.	0.285	0.61398	B	.;.;.	.;.;.	5.102830	0.85272	28.6	0.9956847887903737	0.72258	0.96797	0.70991	D	AEFDGBCI	0.806893	0.73108	D	0.872925807135526	0.90374	10.37413	0.771186402839236	0.87729	9.323855	0.999999767822685	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.89	4.89	0.63387	6.627000	0.74121	7.455000	0.58998	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.825000	0.38878	0.0:1.0:0.0:0.0	15.994	0.80019	917	0.20147	Alpha/beta hydrolase fold-3;Alpha/beta hydrolase fold-3;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1361.44	127	chr17	78204851	.	C	A	1361.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.944;DP=327;ExcessHet=0;FS=2.277;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-0.09;SOR=0.922	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1474	6	0	1	0
chr17	78214417	78214417	C	-	exonic	BIRC5	.	frameshift deletion	BIRC5:NM_001012270:exon1:c.101delC:p.P35Rfs*46,BIRC5:NM_001012271:exon1:c.101delC:p.P35Rfs*85,BIRC5:NM_001168:exon1:c.101delC:p.P35Rfs*40	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	31.4	34	chr17	78214416	.	AC	A	31.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.812;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.49;ReadPosRankSum=0;SOR=0.495	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1577	6	0	1	0
chr17	78492729	78492729	T	G	exonic	DNAH17	.	nonsynonymous SNV	DNAH17:NM_173628:exon42:c.A6445C:p.K2149Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0234617442024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.84e-07	0	1.377e-06	1.163e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.163e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.810899	0.29002	N	.	.	.	1.04	0.40218	T	.	.	.	0.303	0.34228	-0.8144	0.54282	T	0.181	0.52889	T	7	0.28432316	0.46014	T	0.023462	0.46421	T	0.113	0.31778	.	.	0.194818534648	0.19098	0.46483694420414756	0.46402	.	.	0.584488272667	0.50717	T	.	.	.	-0.207438	0.19742	T	-0.535747	0.18716	T	0.582715534760407	0.35723	D	0.880912	0.59977	D	0.1419046	0.32679	0.15484706	0.36324	0.1419046	0.32679	0.15484706	0.36323	-12.003	0.84866	D	0.4155911409026748	0.50519	0.103	0.18580	B	.;.	.;.	4.063719	0.60331	24.2	0.99418634036194242	0.63645	0.90918	0.52509	D	AEFDBI	0.593922	0.58906	D	0.184182615442268	0.50440	3.233949	0.179895007034478	0.48745	3.08647	0.243099970432267	0.18594	0.634777	0.41761	0	0.643519	0.57511	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.74	3.64	0.40864	3.883000	0.55880	4.148000	0.42131	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.762000	0.36218	0.0:0.0:0.1521:0.8479	11.355	0.48848	908	0.22609	ATPase, dynein-related, AAA domain;ATPase, dynein-related, AAA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	67.44	33	chr17	78492729	.	T	G	67.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.792;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=-1.465;SOR=0.368	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1376	6	0	1	0
chr17	78558165	78558165	G	T	exonic	DNAH17	.	nonsynonymous SNV	DNAH17:NM_173628:exon14:c.C2121A:p.N707K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0211349575287	.	.	8.484e-06	0	8.983e-05	0	0	0	0	0	6.5e-06	1	154602	rs201170230	6.842e-07	6.84e-07	0	1.376e-06	2.238e-05	0	0	.	.	0	2.238e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.508	0.07545	T	.	.	.	.	.	.	.	.	.	0.891765	0.08682	U	0.935307	0.982917	0.24926	N	1.175	0.29870	L	0.58	0.54149	T	-1.33	0.33197	N	0.353	0.39558	-1.0012	0.29574	T	0.099	0.36957	T	10	0.074055254	0.11269	T	0.021135	0.43862	T	0.031	0.07369	.	.	0.0551355673512	0.04727	0.17295314848951168	0.17215	.	.	0.454461336136	0.32553	T	0.002842	0.02237	T	-0.405756	0.02121	T	-0.651489	0.08850	T	0.0497904755175114	0.05464	T	0.625137	0.24143	T	0.13162793	0.30675	0.20811763	0.45100	0.13162793	0.30675	0.20811763	0.45099	-5.26	0.39546	T	.	.	0.191	0.40968	B	.;.	.;.	-0.164848	0.03276	0.560	0.92971033820269122	0.22550	0.03220	0.08227	N	AEFDGBHCI	0.115976	0.22781	N	-0.99765071762215	0.08654	0.406581	-0.989679325210261	0.10016	0.5018434	0.999997535714228	0.74766	0.580535	0.33130	0	0.626922	0.53725	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	5.14	-1.87	0.07317	-1.921000	0.01661	-4.609000	0.02071	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.977000	0.56843	0.5801:0.0:0.4199:0.0	10.459	0.43756	884	0.28482	Dynein heavy chain, domain-1;Dynein heavy chain, domain-1	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	131.44	38	chr17	78558165	.	G	T	131.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.72;DP=239;ExcessHet=0;FS=3.136;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.78;ReadPosRankSum=-0.484;SOR=1.492	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr17	78803829	78803829	T	C	exonic	USP36	.	nonsynonymous SNV	USP36:NM_001385177:exon15:c.A1871G:p.E624G,USP36:NM_001385178:exon15:c.A1871G:p.E624G,USP36:NM_001385180:exon15:c.A1709G:p.E570G,USP36:NM_001321291:exon16:c.A2366G:p.E789G,USP36:NM_001385169:exon16:c.A2366G:p.E789G,USP36:NM_001385170:exon16:c.A2366G:p.E789G,USP36:NM_001385171:exon16:c.A2366G:p.E789G,USP36:NM_001385173:exon16:c.A2366G:p.E789G,USP36:NM_001385174:exon16:c.A2366G:p.E789G,USP36:NM_001385175:exon16:c.A2366G:p.E789G,USP36:NM_001385176:exon16:c.A2366G:p.E789G,USP36:NM_001385179:exon16:c.A1736G:p.E579G,USP36:NM_001385172:exon17:c.A2366G:p.E789G	.	414	1101	6	1	0	8	0.00361991	.	.	.	2338210	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.087	0.00304485240764	7.7e-05	.	6.034e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs143211507	7.599e-05	7.593e-05	7.493e-05	7.707e-05	0.0016	6.428e-05	6.009e-05	0.0008	0.0006	0	2.236e-05	0	0	0	0.0016	8.094e-05	0.0002	0	0.0001	0.0001	0.0002	5.391e-05	0.0002	6.523e-05	5.332e-05	0.0001	0.0001	2.416e-05	0	0	0	0	0	0	0.0002	0	0	1.0	0.00964	T	0.735	0.05072	T	0.0	0.02946	B	0.0	0.01387	B	0.035626	0.24620	N	0.479641	1	0.19486	N	-1.995	0.00197	N	3.41	0.05574	T	1.9	0.00456	N	0.034	0.01135	-0.9470	0.41481	T	0.004	0.01159	T	10	0.02090925	0.00490	T	0.003045	0.06547	T	0.087	0.25287	.	.	0.117506650769	0.11410	0.2135863070528105	0.21274	0.0810390248046	0.09121	0.28819796443	0.08661	T	0.004243	0.03650	T	-0.520141	0.00439	T	-0.748254	0.03554	T	0.0230107751109894	0.01025	T	0.320168	0.06459	T	0.03492043	0.04013	0.041827437	0.04843	0.03492043	0.04013	0.041827437	0.04843	0.784	0.00162	T	.	.	0.050	0.00130	B	.;.	.;.	1.087607	0.14711	11.26	0.088743947588112285	0.00078	0.00355	0.01825	N	AEFDBI	0.014664	0.00243	N	-1.39579070475119	0.02677	0.1185641	-1.21269476537944	0.05705	0.2725941	0.999922370537959	0.46280	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.29	4.28	0.50183	1.525000	0.35560	3.891000	0.40294	-0.218000	0.08083	0.129000	0.23328	1.000000	0.68203	0.033000	0.13494	0.0:0.7438:0.1659:0.0903	7.548	0.26948	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	2176.44	33	chr17	78803829	.	T	C	2176.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.18;DP=308;ExcessHet=0;FS=1.506;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.09;ReadPosRankSum=1.01;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,58:114:99:0|1:78803816_A_G:2187,0,2139:78803816	6	0	1	0
chr17	79735355	79735355	C	A	exonic	ENPP7	.	nonsynonymous SNV	ENPP7:NM_178543:exon3:c.C712A:p.R238S	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0135050875108	0.0015	0.000399361	0.0014	0.0003	0	0	0.0030	0.0019	0	0.0015	0.0014683	227	154602	rs144007702	0.0021	0.0021	0.0021	0.0020	0.0024	0.0020	0.0020	0.0023	0.0023	0.0004	6.708e-05	3.826e-05	0	0.0022	0.0007	0.0024	0.0013	0.0017	0.0011	0.0011	0.0012	0.0010	0.0019	0.0010	0.0009	0.0015	0.0015	0.0003	0	0.0003	0	0	0.0017	0.0034	0.0018	0	0.0019	0.837	0.02832	T	0.756	0.04703	T	.	.	.	.	.	.	0.981468	0.08091	N	0.992267	1	0.08975	N	.	.	.	-0.81	0.73949	T	0.55	0.02721	N	0.121	0.11197	-0.9747	0.36191	T	0.108	0.39221	T	10	0.01062566	0.00236	T	0.013505	0.32951	T	0.137	0.36984	.	.	0.240491677333	0.23641	0.5131442733717797	0.51236	0.143592484051	0.16211	0.213940173388	0.00990	T	.	.	.	-0.479808	0.00741	T	-0.465978	0.25950	T	0.00446246836952744	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.13456	B	.	.	-0.413813	0.02162	0.210	0.23841592245852766	0.01026	0.01785	0.05587	N	AEFDGBI	0.256329	0.37528	N	-1.78484195140975	0.00583	0.0251314	-1.78828262592954	0.00797	0.03558667	0.974876230065872	0.29582	0.57788	0.32782	0	0.593476	0.48661	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.39	-6.25	0.01863	1.515000	0.35452	-0.178000	0.11160	-1.290000	0.01256	0.004000	0.16614	0.000000	0.08366	0.009000	0.08673	0.3662:0.4062:0.1283:0.0994	3.812	0.08316	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	2663.44	34	chr17	79735355	.	C	A	2663.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.14;DP=424;ExcessHet=0;FS=2.252;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=-0.687;SOR=0.536	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1387	6	0	1	0
chr17	80222676	80222676	A	C	exonic	SLC26A11	.	nonsynonymous SNV	SLC26A11:NM_001166348:exon3:c.A256C:p.M86L,SLC26A11:NM_001166349:exon3:c.A256C:p.M86L,SLC26A11:NM_001166347:exon4:c.A256C:p.M86L,SLC26A11:NM_173626:exon4:c.A256C:p.M86L	.	424	1086	12	0	0	12	0.00549451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	.	0.0012	0.0081869	0.0052	9.61e-05	0.0004	0.0162	0.0035	0.0022	0.0066	0.0186	0.0046507	719	154602	rs141472706	0.0028	0.0028	0.0023	0.0034	0.0201	0.0028	0.0027	0.0189	0.0184	0.0008	0.0009	0.0179	0.0201	0.0032	0.0068	0.0006	0.0041	0.0188	0.0025	0.0025	0.0021	0.0029	0.0197	0.0023	0.0022	0.0166	0.0155	0.0003	0	0.0006	0.0153	0.0197	0.0043	0.0034	0.0010	0.0028	0.0168	0.106	0.29688	T	0.296	0.35582	T	0.021	0.18474	B	0.025	0.20508	B	0.001116	0.40219	N	0.310553	0.926442	0.36834	D	0.16	0.08945	N	-2.6	0.89888	D	-2.06	0.47175	N	0.598	0.61849	-0.7417	0.58365	T	0.306	0.67639	T	10	0.012810349	0.00375	T	.	.	.	0.294	0.61388	0.467	0.53891	0.50466331119	0.50103	0.6310794538286547	0.63041	0.108274543893	0.12206	0.48755222559	0.37100	T	0.39481	0.86879	T	-0.297286	0.08918	T	-0.184212	0.56131	T	0.00872753039014649	0.00107	T	0.926807	0.74412	D	0.2601104	0.49066	0.2477093	0.50306	0.2601104	0.49066	0.2477093	0.50305	-7.554	0.57989	D	.	.	0.156	0.38409	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.802983	0.22914	15.81	0.6047288325853053	0.06472	0.96883	0.71458	D	AEFDGBI	0.518418	0.54413	D	-0.933929777757009	0.10055	0.4787471	-0.800900294125512	0.14474	0.7564247	0.0858371849169665	0.15993	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.37	0.919	0.18518	2.379000	0.43973	2.898000	0.35432	-0.126000	0.13398	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.5771:0.0:0.4229:0.0	8.384	0.31651	835	0.38313	SLC26A/SulP transporter domain|Sulphate anion transporter, conserved site;.;SLC26A/SulP transporter domain|Sulphate anion transporter, conserved site;SLC26A/SulP transporter domain|Sulphate anion transporter, conserved site;SLC26A/SulP transporter domain|Sulphate anion transporter, conserved site;SLC26A/SulP transporter domain|Sulphate anion transporter, conserved site;SLC26A/SulP transporter domain|Sulphate anion transporter, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.006793	0.000000	0.000000	0.008621	0.003049	0.007576	0.1429	2539.29	35	chr17	80222676	.	A	C	2539.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.5;DP=361;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-0.039;SOR=0.655	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1231	5	0	2	0
chr17	80295557	80295557	G	A	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon10:c.G1756A:p.V586M,RNF213:NM_020954:exon10:c.G1756A:p.V586M	.	.	.	.	.	.	.	.	0.2121	0.414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0804710953068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.91255	D	0.008	0.92824	D	.	.	.	.	.	.	0.000069	0.52346	D	0.000000	0.863587	0.28318	N	2.08	0.57402	M	1.41	0.33412	T	-1.48	0.38345	N	0.451	0.53093	-0.6856	0.61113	T	0.268	0.63950	T	8	0.4909803	0.60990	T	0.080471	0.73467	D	0.158	0.41098	.	.	0.715633265667	0.71313	.	.	0.403563881529	0.41289	0.47725263238	0.35679	T	0.031762	0.22187	T	-0.0642889	0.42233	T	-0.330123	0.41455	T	0.53758826158176	0.34015	D	0.775622	0.40735	T	.	.	.	.	.	.	.	.	-4.06	0.24698	T	.	.	0.187	0.40311	B	.;.;.	.;.;.	3.393467	0.46997	22.4	0.86043292581667208	0.16276	0.94570	0.61596	D	AEFGBI	0.466382	0.51405	N	0.486866676207165	0.66324	4.935214	0.371965880834663	0.59842	4.165623	0.184105291832392	0.17911	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.1	4.1	0.47196	4.939000	0.63227	7.472000	0.59162	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.164000	0.20782	0.0:0.0:1.0:0.0	12.604	0.55866	873	0.30802	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	111.4	24	chr17	80295557	.	G	A	111.4	.	AC=2;AF=0.143;AN=14;DP=180;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=27.85;SOR=1.609	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1155	6	1	0	0
chr17	80340302	80340302	G	A	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon26:c.G5935A:p.V1979M	.	.	.	.	.	.	.	.	.	.	.	3074860	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.179	0.0256133580771	.	0.000199681	5.974e-05	0.0003	8.832e-05	0	0	4.664e-05	0	0	5.17e-05	8	154602	rs554464121	2.942e-05	2.941e-05	2.859e-05	3.026e-05	0.0005	2.217e-05	1.97e-05	0.0001	8.675e-05	0.0002	0	0	0	0	0.0005	2.428e-05	4.968e-05	2.319e-05	8.533e-05	8.53e-05	8.993e-05	8.053e-05	0.0002	4.952e-05	3.959e-05	9.539e-05	6.944e-05	0.0002	0	0	0	0	0	0	7.351e-05	0	0	0.003	0.68238	D	0.004	0.74150	D	.	.	.	.	.	.	0.045168	0.23564	N	0.414460	1	0.08975	N	.	.	.	0.9	0.45248	T	-2.24	0.50175	N	0.261	0.29544	-0.9599	0.39199	T	0.152	0.48032	T	10	0.20691389	0.36969	T	0.025613	0.48570	D	0.179	0.44899	.	.	0.66956235034	0.66677	.	.	1.04685743693	0.75984	0.533517360687	0.43530	T	0.049932	0.28448	T	-0.361067	0.04070	T	-0.438351	0.28993	T	0.148890610769976	0.17014	T	0.90311	0.66064	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.41526	B	.;.	.;.	2.827702	0.37270	20.5	0.58204050646032668	0.05940	0.89565	0.50110	D	AEFDBCI	0.401891	0.47619	N	0.291810382501884	0.55733	3.737407	0.147444305400226	0.47007	2.937509	0.175974922859216	0.17804	0.67177	0.52595	0	0.702456	0.74545	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.14	4.18	0.48473	4.696000	0.61460	4.395000	0.43227	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	0.017000	0.10941	0.1487:0.0:0.8513:0.0	11.191	0.47914	862	0.33134	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	1449.83	36	chr17	80340302	.	G	A	1449.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.93;DP=294;ExcessHet=0;FS=3.505;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=0.49;SOR=1.052	GT:AD:DP:GQ:PL	0/1:57,58:115:99:1460,0,1433	6	0	1	0
chr17	80347133	80347133	C	T	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon29:c.C8798T:p.A2933V	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.013121737207	.	.	2.497e-05	0	0	0	0	4.536e-05	0	0	1.94e-05	3	154602	rs768103241	1.505e-05	1.573e-05	1.225e-05	1.788e-05	0.0005	9.85e-06	8.41e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	1.529e-05	1.656e-05	1.159e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.229	0.18371	T	0.238	0.24549	T	.	.	.	.	.	.	0.640402	0.05864	N	1.181070	1	0.08975	N	.	.	.	1.38	0.34050	T	-2.14	0.48523	N	0.083	0.05929	-0.9950	0.31299	T	0.078	0.31012	T	10	0.07310158	0.11001	T	0.013122	0.32271	T	0.084	0.24469	.	.	0.195762928549	0.19159	.	.	0.359186557532	0.37614	0.247867360711	0.03547	T	0.029476	0.21111	T	-0.234335	0.16079	T	-0.466726	0.25870	T	0.0381070874323263	0.03350	T	0.427357	0.11519	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10787	B	.;.	.;.	-0.264478	0.02777	0.376	0.64336068040517458	0.07465	0.12923	0.17560	N	AEFGBI	0.069250	0.13697	N	-1.12600785272445	0.06184	0.2839821	-1.15120229910824	0.06746	0.3257797	2.62403795522675E-4	0.06244	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.82	0.00202	0.13371	-0.265000	0.08671	-2.418000	0.03779	-0.908000	0.02283	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3234:0.2857:0.3909:0.0	11.206	0.47995	856	0.34373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1677.46	38	chr17	80347133	.	C	T	1677.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.86;DP=340;ExcessHet=0;FS=7.451;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.25;ReadPosRankSum=0.414;SOR=0.935	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr17	80475594	80475594	C	A	exonic	NPTX1	.	nonsynonymous SNV	NPTX1:NM_002522:exon2:c.G569T:p.G190V	.	402	1118	2	0	0	2	0.000893655	.	.	.	2207983	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.00643262550052	7.7e-05	0.000199681	8.553e-05	0.0010	0	0	0	0	0	0	7.12e-05	11	154602	rs143382901	2.397e-05	2.394e-05	2.453e-05	2.34e-05	0.0009	1.74e-05	1.54e-05	0.0006	0.0005	0.0009	4.477e-05	0	0	0	0	0	3.314e-05	2.322e-05	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0005	0.0004	0.0007	0	6.536e-05	0	0	0	0	0	0	0	0.207	0.19854	T	0.315	0.19421	T	0.376	0.34240	B	0.154	0.34351	B	0.121912	0.18976	N	0.567605	0.756365	0.29585	N	1.21	0.30464	L	2.99	0.09262	T	0.75	0.02007	N	0.256	0.28965	-1.0325	0.19650	T	0.017	0.06807	T	10	0.02109474	0.00498	T	0.006433	0.16927	T	0.029	0.06676	.	.	0.276065633971	0.27208	.	.	0.990736191917	0.74065	0.405245006084	0.25798	T	0.088268	0.38122	T	-0.541078	0.00330	T	-0.617474	0.11384	T	0.00571341468234776	0.00062	T	0.851815	0.53646	D	0.11495751	0.27133	0.07907813	0.17769	0.11495751	0.27132	0.07907813	0.17769	-4.778	0.34333	T	.	.	0.064	0.01668	B	.	.	1.799543	0.22873	15.80	0.84826980398861662	0.15521	0.15201	0.18794	N	AEFDGBHCI	0.199542	0.32633	N	-0.559587127952043	0.20183	1.062171	-0.556206551932872	0.20641	1.113006	0.99993134360302	0.46732	0.72623	0.87236	0	0.596491	0.49125	0	0.594344	0.31042	0	0.63947	0.58350	0	.	.	3.7	1.62	0.22817	-0.243000	0.08933	1.348000	0.25786	0.599000	0.40250	0.000000	0.06391	0.570000	0.25566	0.988000	0.63387	0.0:0.3908:0.4368:0.1723	4.41	0.10857	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	239.44	33	chr17	80475594	.	C	A	239.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.506;DP=231;ExcessHet=0;FS=1.415;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.98;ReadPosRankSum=1.27;SOR=1.022	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1383	6	0	1	0
chr17	81245845	81245845	C	G	exonic	SLC38A10	.	nonsynonymous SNV	SLC38A10:NM_001037984:exon16:c.G3071C:p.R1024P	.	414	1105	3	0	0	3	0.00135563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	.	0.0069	0.00798722	0.0025	0.0307	0.0012	0	0	8.023e-05	0.0036	0	0.0024256	375	154602	rs114255505	0.0008	0.0008	0.0009	0.0007	0.0278	0.0008	0.0007	0.0263	0.0257	0.0278	0.0020	0	0	0	0.0014	2.159e-05	0.0017	0.0001	0.0082	0.0082	0.0086	0.0079	0.0282	0.0079	0.0077	0.0269	0.0263	0.0282	0	0.0042	0	0	0	0	7.35e-05	0.0047	0.0002	0.124	0.27426	T	0.279	0.21745	T	0.001	0.07471	B	0.001	0.04355	B	0.291567	0.03898	N	1.831950	1	0.08975	N	0.205	0.09354	N	3.13	0.08014	T	0.56	0.02680	N	0.038	0.01203	-0.9689	0.37427	T	0.005	0.01688	T	10	0.0022165775	0.00032	T	.	.	.	0.003	0.00094	.	.	0.0846915920261	0.08053	0.10141733414641194	0.10072	0.170216262749	0.19188	0.304085075855	0.11013	T	0.00178	0.01205	T	-0.777901	0.00011	T	-0.869227	0.00750	T	0.0012775389111218	0.00013	T	0.59464	0.22023	T	0.08741041	0.20353	0.073491946	0.15976	0.08741041	0.20352	0.073491946	0.15975	-2.356	0.04870	T	.	.	0.058	0.00647	B	.	.	-0.752066	0.01205	0.060	0.6046488532001616	0.06470	0.00911	0.03557	N	AEFDBCI	0.041337	0.06272	N	-1.66454101622687	0.00975	0.0422653	-1.68331464979056	0.01213	0.05461959	0.999166775988479	0.38622	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.58	-1.83	0.07410	-0.966000	0.03935	-0.681000	0.07886	-1.234000	0.01323	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1741:0.1469:0.2288:0.4502	0.973	0.01331	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.005435	0.002941	0.000000	0.000000	0.000000	0.000000	0.08333	620.27	36	chr17	81245845	.	C	G	620.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.69;DP=258;ExcessHet=0;FS=1.064;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-1.515;SOR=0.874	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1529	5	0	1	1
chr17	81445080	81445080	A	G	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001291324:exon9:c.A2737G:p.M913V,BAHCC1:NM_001377448:exon9:c.A2737G:p.M913V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0146024446435	.	0.000798722	0.0010	0	0.0002	0	0	5.937e-05	0.0028	0.0054	0.0004657	72	154602	rs556970410	0.0004	0.0004	0.0002	0.0007	0.0038	0.0004	0.0004	0.0034	0.0033	0	0	0	0	0	0	1.442e-05	0.0004	0.0038	0.0001	0.0001	3.858e-05	0.0002	0.0037	7.577e-05	6.282e-05	0.0024	0.0020	0	0	0	0	0	0	0	0	0	0.0037	0.071	0.35165	T	0.412	0.14544	T	0.001	0.12183	B	0.002	0.10090	B	0.016334	0.28006	N	0.302966	0.903373	0.36226	D	1.355	0.33814	L	2.65	0.12676	T	-1.44	0.35399	N	0.279	0.31590	-1.0125	0.26133	T	0.019	0.07893	T	10	0.0066559613	0.00151	T	0.014602	0.34823	T	0.065	0.18881	0.109	0.01988	0.0138822411134	0.00435	0.2508463608925977	0.24998	0.0839137319646	0.09463	0.531470239162	0.43242	T	0.186853	0.54028	T	-0.525618	0.00408	T	-0.527935	0.19493	T	0.0315049216393469	0.02226	T	0.718628	0.33490	T	0.12456208	0.29222	0.19238946	0.42750	0.12456208	0.29222	0.19238946	0.42749	-7.568	0.58087	D	.	.	0.059	0.02733	B	.;.	.;.	1.523255	0.19552	14.32	0.95501873135087079	0.27094	0.66900	0.33240	D	AEFDBHCI	0.207289	0.33348	N	-0.553620124367176	0.20369	1.07334	-0.405416974308032	0.24838	1.362389	0.0776533766164252	0.15765	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	4.41	3.3	0.36912	0.273000	0.18425	3.318000	0.37521	0.665000	0.62972	0.922000	0.32020	1.000000	0.68203	0.370000	0.26111	0.5563:0.3356:0.1081:0.0	5.412	0.15649	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	432.53	31	chr17	81445080	.	A	G	432.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.25;DP=195;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-0.556;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1069	6	0	1	0
chr17	81461746	81461746	C	A	exonic	BAHCC1	.	stopgain	BAHCC1:NM_001377448:exon26:c.C7083A:p.C2361X,BAHCC1:NM_001291324:exon27:c.C7176A:p.C2392X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000417	0.44736	D	0.094726	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.142	0.14622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.510359	0.94595	D	0.495319	0.94515	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	9.203809	0.98611	40	0.99109435177654626	0.52674	0.88682	0.48726	D	AEFDGBHCI	0.382214	0.46418	N	0.431794431612753	0.63178	4.546648	0.232024405155258	0.51634	3.344151	0.999998107939492	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.58	0.85	0.18119	0.372000	0.20199	0.184000	0.15665	0.545000	0.25583	0.995000	0.38783	0.973000	0.29867	0.993000	0.69303	0.0:0.6142:0.0:0.3858	8.685	0.33393	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	26	chr17	81461746	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1266	6	1	0	0
chr17	81528871	81528871	A	G	exonic	FSCN2	.	nonsynonymous SNV	FSCN2:NM_001077182:exon1:c.A340G:p.T114A,FSCN2:NM_012418:exon1:c.A340G:p.T114A	Retinitis pigmentosa 30	0	1516	6	0	0	6	0.00197498	.	.	.	741204	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.012	0.00514806509797	0.0008	0.000199681	0.0016	0.0008	0.0021	0	0.005	0.0029	0	0.0004	0.0005304	82	154602	rs202158770	0.0009	0.0009	0.0009	0.0009	0.0032	0.0009	0.0009	0.0020	0.0017	0.0002	0.0008	0	0	0.0001	0.0032	0.0011	0.0008	0.0003	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0005	0.0008	0.0008	0.0001	0	0.0006	0	0	9.409e-05	0	0.0010	0.0014	0.0004	0.006	0.61437	D	0.193	0.28210	T	0.0	0.02946	B	0.0	0.01387	B	0.015295	0.28288	N	0.362200	0.851906	0.28484	N	1.1	0.28011	L	1.96	0.22270	T	-2.19	0.49352	N	0.065	0.13055	-1.0587	0.12083	T	0.040	0.17234	T	10	0.012120903	0.00262	T	0.005148	0.13094	T	0.012	0.01476	.	.	0.373897652646	0.36997	0.23596444462120333	0.23511	0.0716247494245	0.08021	0.516877174377	0.41187	T	0.25221	0.62256	T	-0.604322	0.00137	T	-0.686395	0.06600	T	0.0106476187211481	0.00149	T	0.779122	0.41282	T	0.11139031	0.26323	0.09344192	0.22070	0.11139031	0.26323	0.09344192	0.22069	-7.97	0.61071	D	0.12783891521311308	0.13153	0.068	0.02829	B	.;.	.;.	1.866161	0.23708	16.12	0.86445948207584411	0.16541	0.51350	0.28875	D	AEFDBCI	0.101337	0.20356	N	-0.654054616540187	0.17343	0.8915816	-0.682873457787928	0.17389	0.9244013	0.999979095664184	0.50053	0.660377	0.49826	0	0.694456	0.67091	0	0.603688	0.36954	0	0.562822	0.20929	0	.	.	4.32	0.445	0.15808	0.894000	0.27983	3.603000	0.39228	0.686000	0.82685	0.483000	0.26824	1.000000	0.68203	0.304000	0.24594	0.4601:0.0:0.2214:0.3185	3.101	0.05946	.	.	Fascin domain|Fascin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001526	0.005208	0.000000	0.002976	0.000000	0.000000	0.006211	0.000000	0.07143	765.49	33	chr17	81528871	.	A	G	765.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.025;DP=288;ExcessHet=0;FS=4.068;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.06;ReadPosRankSum=-0.81;SOR=1.216	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1059:.	6	0	1	0
chr17	81528895	81528895	G	A	exonic	FSCN2	.	nonsynonymous SNV	FSCN2:NM_001077182:exon1:c.G364A:p.A122T,FSCN2:NM_012418:exon1:c.G364A:p.A122T	Retinitis pigmentosa 30	0	1520	2	0	0	2	0.000657462	.	.	.	491002	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.213	0.0344599420716	.	.	0.0001	0.0006	0	0	0	0.0001	0	0.0001	2.59e-05	4	154602	rs782798108	1.331e-05	1.573e-05	8.34e-06	1.837e-05	0.0006	8.51e-06	6.86e-06	0.0002	8.076e-05	3.051e-05	2.409e-05	0	2.64e-05	0	0.0006	7.283e-06	0	6.092e-05	5.255e-05	5.253e-05	6.422e-05	4.034e-05	7.237e-05	2.556e-05	1.83e-05	1.972e-05	1.124e-05	7.237e-05	0	6.539e-05	0	0	0	0	5.879e-05	0	0	0.002	0.72154	D	0.004	0.74150	D	0.989	0.62824	D	0.647	0.52336	P	0.000007	0.62929	D	0.061993	0.999999	0.58761	D	2.67	0.78151	M	1.84	0.24656	T	-2.73	0.58569	D	0.655	0.67822	-0.9390	0.42774	T	0.121	0.42165	T	10	0.8231399	0.81507	D	0.03446	0.55689	D	0.213	0.50496	0.767	0.89452	0.550842731861	0.54741	0.5795876004834515	0.57887	0.377018115732	0.39137	0.585646033287	0.50882	T	0.338192	0.70749	T	-0.0317979	0.47156	T	-0.283452	0.46450	T	0.595828473567963	0.36235	D	0.881012	0.60027	D	0.46004426	0.64673	0.46806195	0.69143	0.46004426	0.64674	0.46806195	0.69143	-10.974	0.79796	D	0.4631159438355798	0.54494	0.120	0.26886	B	.;.	.;.	4.561306	0.71881	25.7	0.99826491077926482	0.90852	0.94449	0.61202	D	AEFDBCI	0.551016	0.56325	D	0.382126125842531	0.60453	4.234434	0.276986953683154	0.54198	3.585578	0.999997790164536	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.603688	0.36954	0	0.562822	0.20929	0	.	.	4.32	2.09	0.26154	7.101000	0.76647	7.009000	0.57224	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	0.0:0.1366:0.707:0.1564	10.368	0.43220	.	.	Fascin domain|Fascin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001523	0.000000	0.002732	0.002959	0.000000	0.000000	0.000000	0.000000	0.07143	1639.46	42	chr17	81528895	.	G	A	1639.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.24;DP=303;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.56;ReadPosRankSum=-0.706;SOR=0.733	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1059	6	0	1	0
chr17	81588991	81588991	C	T	exonic	NPLOC4	.	nonsynonymous SNV	NPLOC4:NM_001369698:exon12:c.G1249A:p.A417T,NPLOC4:NM_017921:exon12:c.G1234A:p.A412T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.00713712276609	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs916787216	1.368e-06	1.368e-06	0	2.751e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.176	0.29843	T	0.995	0.70673	D	0.811	0.58656	P	0.000025	0.55875	D	0.155556	1	0.81001	D	0.895	0.22405	L	.	.	.	-1.06	0.27669	N	0.242	0.27316	-0.6833	0.61220	T	0.262	0.63296	T	9	0.32826155	0.50097	T	0.007137	0.18924	T	0.134	0.36365	0.571	0.69431	0.429154209284	0.42533	0.4896581872256414	0.48885	0.900979474855	0.70637	0.676784276962	0.63808	T	0.056093	0.30190	T	-0.000193912	0.51629	T	-0.238055	0.50988	T	0.787325322628021	0.45515	D	0.950805	0.81197	D	0.24381684	0.47324	0.1947537	0.43115	0.24381684	0.47324	0.1947537	0.43114	-2.479	0.05640	T	.	.	0.224	0.45581	B	.;.	.;.	4.868794	0.79736	27.2	0.99909041205985305	0.97875	0.99438	0.96031	D	AEFBI	0.696670	0.65493	D	0.433373068952642	0.63268	4.557168	0.49327239572064	0.67544	5.098148	0.999999998601701	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.16	5.16	0.70563	5.848000	0.69182	7.498000	0.59452	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.0:1.0:0.0:0.0	19.000	0.92807	.	.	Nuclear pore localisation protein NPL4, C-terminal|Nuclear pore localisation protein NPL4, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	821.44	78	chr17	81588991	.	C	T	821.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.75;DP=258;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=1.17;SOR=0.703	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	6	0	1	0
chr17	81868769	81868769	C	T	exonic	ARHGDIA	.	nonsynonymous SNV	ARHGDIA:NM_001301242:exon7:c.G610A:p.V204M	Nephrotic syndrome, type 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0002	0.0074	0.0001	3.23e-05	5	154602	rs750195456	1.408e-05	1.316e-05	5.204e-06	2.322e-05	0.0003	8.33e-06	6.74e-06	0.0001	9.938e-05	0	0.0003	0	0	0	0	2.217e-06	2.376e-05	6.604e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999993	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078030735	0.12388	T	.	.	.	.	.	.	.	0.405070198662	0.40122	.	.	.	.	.	.	.	0.005557	0.05012	T	-0.221802	0.17748	T	-0.556379	0.16718	T	.	.	.	0.324768	0.06643	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.46261	B	.	.	-0.309035	0.02577	0.316	0.68647796875965517	0.08723	0.33495	0.24842	N	ALL	0.211137	0.33695	N	.	.	.	.	.	.	0.999999985590198	0.74766	0.839682	0.99964	0	0.672317	0.65289	0	0.736553	0.94036	0	0.735409	0.98432	0	.	.	2.31	-1.78	0.07527	-0.349000	0.07779	-3.246000	0.02938	-4.006000	0.00047	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1279:0.2398:0.4588:0.1736	2.175	0.03623	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	654.83	36	chr17	81868769	.	C	T	654.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.43;DP=227;ExcessHet=0;FS=2.327;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-0.084;SOR=0.407	GT:AD:DP:GQ:PL	0/1:33,26:59:99:665,0,872	6	0	1	0
chr17	82079493	82079493	C	T	exonic	FASN	.	nonsynonymous SNV	FASN:NM_004104:exon42:c.G7262A:p.R2421Q	.	.	.	.	.	.	.	.	.	.	.	1438557	Epileptic_encephalopathy	Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.066	0.0920646085564	7.7e-05	.	7.515e-05	0	0	0	0	3.058e-05	0	0.0004	5.82e-05	9	154602	rs140139973	8.491e-05	8.687e-05	8.585e-05	8.397e-05	0.0003	7.216e-05	6.803e-05	0.0002	0.0002	2.987e-05	0	3.827e-05	0	1.925e-05	0	8.184e-05	1.656e-05	0.0003	1.971e-05	1.97e-05	2.569e-05	1.345e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.94e-05	0	0	0.399	0.10517	T	0.486	0.12421	T	0.316	0.32901	B	0.087	0.29615	B	0.495713	0.05062	N	1.318270	1	0.08975	N	1.87	0.49600	L	1.76	0.25996	T	-0.14	0.09135	N	0.184	0.19995	-1.0314	0.20002	T	0.043	0.18493	T	10	0.08311483	0.13792	T	0.092065	0.75824	D	0.066	0.19193	.	.	0.464345556596	0.46058	0.4083306440798199	0.40749	.	.	0.217506974936	0.01171	T	0.273178	0.64561	T	-0.446672	0.01181	T	-0.557424	0.16620	T	0.0272110492532433	0.01574	T	0.835916	0.50694	T	0.089905836	0.21022	0.05997246	0.11346	0.089905836	0.21021	0.05997246	0.11346	-5.605	0.42838	T	.	.	0.086	0.10594	B	.;.	.;.	1.376176	0.17868	13.42	0.86605755380668414	0.16649	0.92307	0.55410	D	AEFDBHCI	0.240320	0.36213	N	-0.891374195052057	0.11046	0.5310316	-0.938531307393757	0.11190	0.5685602	0.563558126379298	0.21433	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.16	-1.15	0.09211	2.221000	0.42559	-0.164000	0.11293	-0.052000	0.16994	0.948000	0.32982	0.000000	0.08366	0.029000	0.12982	0.1848:0.5278:0.1568:0.1306	3.233	0.06354	.	.	Thioesterase;Thioesterase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	520.53	38	chr17	82079493	.	C	T	520.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.375;DP=239;ExcessHet=0;FS=4.055;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-0.02;SOR=0.963	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1079	6	0	1	0
chr17	82093639	82093639	G	A	exonic	FASN	.	nonsynonymous SNV	FASN:NM_004104:exon4:c.C413T:p.A138V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.04545105289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.007	0.69154	D	1.0	0.90584	D	0.969	0.72001	D	0.000195	0.48115	D	0.135161	1	0.81001	D	2.665	0.77964	M	1.57	0.29342	T	-2.9	0.60827	D	0.941	0.94786	-0.3443	0.73719	T	0.256	0.62609	T	10	0.89938986	0.89297	D	0.045451	0.61989	D	0.461	0.75822	0.817	0.93127	0.553962910194	0.55055	0.9628203690014785	0.96269	.	.	0.562062859535	0.47558	T	0.745361	0.92980	D	0.106725	0.65010	D	-0.0844738	0.64575	T	0.973181128501892	0.69994	D	0.968003	0.94093	D	0.5053191	0.67406	0.30141622	0.56174	0.5053191	0.67407	0.30141622	0.56173	-9.985	0.73822	D	.	.	0.762	0.76533	P	.;.;.	.;.;.	5.021048	0.83447	28.0	0.99932098447316575	0.99439	0.99574	0.97595	D	AEFDBHCI	0.947828	0.95881	D	0.717833449905371	0.80802	7.375569	0.586364053486969	0.73961	6.056859	1.0	0.98316	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.62	4.62	0.56946	7.784000	0.84325	11.633000	0.93719	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:0.0:1.0:0.0	17.067	0.86438	.	.	Beta-ketoacyl synthase, N-terminal|Polyketide synthase, beta-ketoacyl synthase domain;Beta-ketoacyl synthase, N-terminal|Polyketide synthase, beta-ketoacyl synthase domain;Beta-ketoacyl synthase, N-terminal|Polyketide synthase, beta-ketoacyl synthase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	51.44	39	chr17	82093639	.	G	A	51.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.703;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.43;ReadPosRankSum=-0.992;SOR=1.034	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1463	6	0	1	0
chr17	82253179	82253179	G	C	exonic	CSNK1D	.	nonsynonymous SNV	CSNK1D:NM_001363749:exon4:c.C402G:p.F134L,CSNK1D:NM_001893:exon4:c.C402G:p.F134L,CSNK1D:NM_139062:exon4:c.C402G:p.F134L	Advanced sleep-phase syndrome, familial, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585	0.294920260008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.976	0.74843	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.075	0.57047	M	0.05	0.61923	T	-5.77	0.87911	D	0.856	0.86191	-0.2906	0.75249	T	0.378	0.73572	T	10	0.8558959	0.84786	D	0.29492	0.90689	D	0.585	0.83360	0.713	0.84872	0.794112205518	0.79219	0.8391474319513283	0.83874	2.45932965126	0.97411	0.943554639816	0.99578	D	0.463857	0.79964	T	0.245163	0.78146	D	0.114383	0.77862	D	0.996541440486908	0.89565	D	0.972453	0.90829	D	0.9611103	0.97392	0.90685	0.95464	0.9611103	0.97392	0.90685	0.95465	-13.686	0.91992	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.476840	0.48528	22.6	0.94285568772606809	0.24584	0.90166	0.51131	D	AEFDGBHCI	0.511037	0.53983	D	-0.0133870369408241	0.41248	2.46393	-0.161674069915806	0.32961	1.880536	0.999992497670314	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.55	-2.31	0.06380	1.140000	0.31128	1.624000	0.27703	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.797000	0.37605	0.285:0.0:0.715:0.0	14.272	0.65705	.	.	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	201.86	94	chr17	82253179	.	G	C	201.86	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-2.126;DP=828;ExcessHet=0;FS=298.361;MLEAC=2;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.19;ReadPosRankSum=1.27;SOR=8.468	GT:AD:DP:GQ:PL	./.:134,0:134:0:0,0,1947	1	0	1	5
chr17	82441180	82441180	C	T	exonic	HEXD	.	nonsynonymous SNV	HEXD:NM_173620:exon10:c.C1166T:p.P389L	.	378	1138	6	0	0	6	0.00262927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	0.0039	0.00638978	0.0017	0.0162	0.0004	0	0	0.0004	0	0.0010	0.0016559	256	154602	rs200753176	0.0007	0.0007	0.0007	0.0006	0.0159	0.0006	0.0006	0.0148	0.0143	0.0159	0.0008	7.652e-05	0	3.809e-05	0.0088	0.0002	0.0012	0.0011	0.0047	0.0047	0.0048	0.0046	0.0161	0.0044	0.0043	0.0151	0.0147	0.0161	0	0.0010	0	0	0	0.0170	0.0002	0.0052	0.0006	0.006	0.61437	D	0.657	0.06576	T	.	.	.	.	.	.	0.329620	0.04123	N	1.476060	1	0.81001	D	.	.	.	0.96	0.42888	T	-0.1	0.08495	N	0.111	0.09772	-1.0294	0.20649	T	0.032	0.13679	T	9	0.0038475096	0.00073	T	.	.	.	0.063	0.18251	.	.	0.16115917748	0.15686	0.1315157477425212	0.13076	0.188165949056	0.21140	0.27176964283	0.06373	T	.	.	.	-0.450501	0.01122	T	-0.406264	0.32657	T	0.00674936642305063	0.00076	T	0.316168	0.06277	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08705	B	.	.	0.470826	0.08402	5.159	0.8615332035352582	0.16348	0.54678	0.29675	D	AEFDGBCIJ	0.030048	0.02951	N	-0.909061226785039	0.10628	0.5088518	-0.844658621763409	0.13416	0.6958371	0.999999582540462	0.74766	0.839682	0.99964	0	0.774882	0.99574	0	0.736553	0.94036	0	0.645665	0.59343	0	.	.	5.1	0.651	0.16989	-0.219000	0.09233	0.054000	0.14040	-1.731000	0.00715	0.928000	0.32210	0.897000	0.27914	0.054000	0.15518	0.1181:0.544:0.1156:0.2224	3.498	0.07222	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008056	0.010101	0.005435	0.011696	0.050000	0.034483	0.003049	0.003788	0.07143	64.44	33	chr17	82441180	.	C	T	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.242;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.05;ReadPosRankSum=0.291;SOR=0.223	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1300	6	0	1	0
chr17	82587098	82587098	A	G	exonic	FOXK2	.	nonsynonymous SNV	FOXK2:NM_004514:exon8:c.A1612G:p.T538A	.	433	1088	1	0	0	1	0.000459348	.	.	.	2709621	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.303	0.0721965297776	0.0002	.	2.499e-05	0	8.667e-05	0	0	3.047e-05	0	0	2.59e-05	4	154602	rs369941371	2.328e-05	2.326e-05	2.043e-05	2.615e-05	0.0003	1.676e-05	1.479e-05	6.092e-05	2.521e-05	0	4.472e-05	0	0	0	0.0003	2.428e-05	4.969e-05	0	1.314e-05	1.314e-05	1.285e-05	1.345e-05	6.549e-05	2.18e-06	8.2e-07	.	.	0	0	6.549e-05	0	0	0	0	1.47e-05	0	0	0.263	0.16412	T	0.371	0.16425	T	0.002	0.09854	B	0.002	0.06944	B	0.000741	0.42006	N	0.243565	0.999998	0.08975	N	0.945	0.23706	L	-3.22	0.93352	D	-2.02	0.46503	N	0.181	0.19593	-0.5749	0.65819	T	0.466	0.79361	T	10	0.113426626	0.21309	T	0.072197	0.71470	D	0.303	0.62400	.	.	0.786251420133	0.78427	0.26401477488779157	0.26314	0.0518974345886	0.05709	0.301903963089	0.10684	T	0.085611	0.37540	T	-0.0774148	0.40135	T	-0.152006	0.59065	T	0.0287242128457134	0.01795	T	0.665033	0.27384	T	0.03029634	0.02669	0.04013827	0.04269	0.03029634	0.02668	0.04013827	0.04269	-2.576	0.06323	T	.	.	0.059	0.00754	B	.	.	0.608479	0.09770	6.536	0.7512127537411466	0.10953	0.64209	0.32333	D	AEFBI	0.068566	0.13532	N	-0.952553570041689	0.09635	0.4568954	-0.88967266324143	0.12338	0.6340663	0.071237999910655	0.15559	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.18	0.396	0.15532	0.778000	0.26393	0.050000	0.13987	0.756000	0.94297	0.862000	0.30648	0.000000	0.08366	0.019000	0.11356	0.4632:0.1451:0.3917:0.0	6.856	0.23224	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	713.45	34	chr17	82587098	.	A	G	713.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.932;DP=281;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=1.14;SOR=0.551	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1263	6	0	1	0
chr17	82927286	82927286	G	A	exonic	TBCD	.	nonsynonymous SNV	TBCD:NM_005993:exon29:c.G2572A:p.D858N	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	846657	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.590	0.310222775996	.	.	8.353e-06	0	0	0	0	0	0	6.114e-05	6.5e-06	1	154602	rs766636782	1.163e-05	1.163e-05	9.53e-06	1.375e-05	5.798e-05	7.09e-06	5.79e-06	2.194e-05	1.43e-05	0	0	0	0	0	0	9.893e-06	1.656e-05	5.798e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.3	0.90472	M	-0.53	0.70833	T	-4.3	0.76496	D	0.982	0.99181	0.369	0.88622	D	0.591	0.85355	D	9	0.9356401	0.92895	D	0.310223	0.91162	D	0.590	0.83636	0.69	0.82748	0.786459034887	0.78448	0.6528296597675896	0.65218	0.98513362882	0.73873	0.573241591454	0.49135	T	0.399642	0.75743	T	-0.0904725	0.37999	T	-0.16508	0.57893	T	0.949906706809998	0.63217	D	0.959004	0.84537	D	0.5348146	0.69104	0.3843783	0.63380	0.5348146	0.69105	0.3843783	0.63380	-8.82	0.66531	D	0.7464512108424934	0.82855	0.427	0.61025	A	.;.	.;.	4.956417	0.81914	27.7	0.99901929353182239	0.97350	0.98046	0.79143	D	AEFDBI	0.854379	0.77140	D	0.631099185297632	0.75150	6.255475	0.47622432853169	0.66417	4.949503	0.999745012568639	0.42466	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.04	4.04	0.46262	8.334000	0.89939	11.581000	0.93342	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.391000	0.26581	0.0:0.0:1.0:0.0	13.750	0.62385	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	553.83	37	chr17	82927286	.	G	A	553.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.045;DP=214;ExcessHet=0;FS=1.157;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=1.45;SOR=0.502	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1122	6	0	1	0
chr17	82941437	82941437	G	A	exonic	TBCD	.	nonsynonymous SNV	TBCD:NM_005993:exon38:c.G3518A:p.R1173H	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, Autosomal recessive	430	1086	6	0	0	6	0.00275482	.	.	.	727614	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.031	0.00692511172022	0.0022	0.00159744	0.0046	0.0009	0.0009	0	0.0055	0.0060	0	0.0054	0.0030336	469	154602	rs188081246	0.0038	0.0039	0.0038	0.0039	0.0043	0.0037	0.0037	0.0042	0.0042	0.0006	0.0006	0	0.0001	0.0035	0.0024	0.0043	0.0028	0.0041	0.0025	0.0025	0.0025	0.0025	0.0058	0.0023	0.0022	0.0041	0.0036	0.0010	0	0.0007	0.0003	0	0.0017	0	0.0041	0.0005	0.0058	0.61	0.05468	T	0.316	0.20037	T	0.021	0.18474	B	0.003	0.08700	B	0.003407	0.34985	N	0.250761	0.56329	0.31239	N	1.905	0.50856	L	2.26	0.22678	T	-0.89	0.24026	N	0.078	0.14196	-1.0286	0.20908	T	0.024	0.10058	T	9	0.00836581	0.00190	T	0.006925	0.18317	T	0.031	0.07369	.	.	0.333906830038	0.33007	0.15779743651091782	0.15700	0.360914283252	0.37751	0.278453350067	0.07278	T	0.026801	0.19761	T	-0.568064	0.00227	T	-0.584616	0.14135	T	0.00520182746446725	0.00056	T	0.872413	0.57909	D	0.019906789	0.00533	0.023560254	0.00369	0.02408161	0.01205	0.026416073	0.00730	-5.708	0.43765	T	0.1685342875303827	0.21079	0.066	0.10642	B	.;.;.	.;.;.	1.079337	0.14625	11.18	0.95133648036115215	0.26247	0.26430	0.22990	N	AEFDBI	0.112383	0.22215	N	-0.746140124865356	0.14738	0.7367289	-0.73863587020575	0.16002	0.8444263	0.021787181436635	0.13378	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.96	-2.5	0.06015	-0.107000	0.10843	0.218000	0.16040	0.676000	0.76740	0.846000	0.30379	0.004000	0.18990	0.202000	0.21954	0.4168:0.0:0.4492:0.134	5.443	0.15819	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003543	0.000000	0.005435	0.008824	0.000000	0.000000	0.000000	0.000000	0.07143	971.53	36	chr17	82941437	.	G	A	971.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.985;DP=292;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-0.097;SOR=0.639	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	6	0	1	0
chr18	49153	49153	-	GGGTGG	exonic	TUBB8B	.	nonframeshift insertion	TUBB8B:NM_001358689:exon2:c.141_142insCCACCC:p.I47_N48insPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.0028	0.0034	0.0145	0.0036	0.0030	0	0.0035	3.88e-05	6	154602	rs777749325	0.0005	0.0027	0.0005	0.0005	0.0005	0.0005	0.0004	0.0005	0.0004	0.0004	0.0004	0.0003	0.0005	0.0007	0.0002	0.0005	0.0005	0.0004	0.0006	0.0033	0.0007	0.0006	0.0034	0.0005	0.0005	0.0021	0.0017	0.0005	0	0.0010	0.0003	0.0034	0.0005	0	0.0005	0.0010	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	81.36	12	chr18	49153	.	T	TGGGTGG	81.36	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.524;DP=81;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=46.5;MQRankSum=-1.96;QD=13.56;ReadPosRankSum=-0.674;SOR=0.991	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:13,0:13:27:.:.:0,27,405:.	5	0	1	1
chr18	619243	619243	A	T	exonic	CLUL1	.	nonsynonymous SNV	CLUL1:NM_001318522:exon3:c.A137T:p.D46V,CLUL1:NM_014410:exon3:c.A137T:p.D46V,CLUL1:NM_199167:exon3:c.A137T:p.D46V,CLUL1:NM_001289036:exon5:c.A293T:p.D98V,CLUL1:NM_001375492:exon5:c.A137T:p.D46V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.031679129465	.	0.000599042	0.0005	0	0	0	0	0	0	0.0034	0.0003881	60	154602	rs557572063	0.0002	0.0002	0.0001	0.0003	0.0036	0.0002	0.0002	0.0033	0.0031	2.989e-05	0	0	0	0	0.0002	0	0.0001	0.0036	0.0001	0.0001	5.139e-05	0.0002	0.0041	9.142e-05	7.698e-05	0.0027	0.0023	2.406e-05	0	0	0	0	0	0	0	0	0.0041	0.002	0.72154	D	0.003	0.92824	D	0.991	0.68779	D	0.93	0.66596	D	0.000587	0.43095	D	0.259547	0.999997	0.58761	D	2.39	0.68882	M	1.56	0.29602	T	-6.94	0.93440	D	0.471	0.50688	-0.9979	0.30507	T	0.129	0.43686	T	10	0.013462454	0.00285	T	0.031679	0.53701	D	0.272	0.58758	0.616	0.75000	0.171388866994	0.16791	0.43854153948542546	0.43771	0.540324238068	0.51227	0.28354126215	0.07990	T	0.062265	0.35868	T	-0.371999	0.03494	T	-0.308917	0.43776	T	0.356337818365987	0.27266	T	0.773923	0.42944	T	0.60212857	0.72805	0.659746	0.80067	0.60212857	0.72806	0.659746	0.80068	-3.478	0.16125	T	.	.	0.160	0.35352	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.393551	0.30738	18.53	0.98863543586175395	0.47511	0.76788	0.37689	D	AEFDGBI	0.180360	0.30766	N	0.150762432141645	0.48849	3.092081	0.010354154428289	0.40194	2.394972	0.999976170177673	0.50053	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.26	2.88	0.32617	1.918000	0.39636	1.695000	0.28095	0.756000	0.94297	1.000000	0.71638	0.352000	0.24477	0.551000	0.30197	0.7043:0.1455:0.1502:0.0	5.521	0.16222	976	0.04745	.;Clusterin, N-terminal;Clusterin, N-terminal;Clusterin, N-terminal;Clusterin, N-terminal;Clusterin, N-terminal;Clusterin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	263.49	33	chr18	619243	.	A	T	263.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.748;DP=206;ExcessHet=0;FS=3.556;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=-1.278;SOR=0.223	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1079	6	0	1	0
chr18	674325	674325	G	A	exonic	ENOSF1	.	nonsynonymous SNV	ENOSF1:NM_001354068:exon13:c.C1225T:p.L409F,ENOSF1:NM_001318760:exon14:c.C769T:p.L257F,ENOSF1:NM_001354065:exon15:c.C1066T:p.L356F,ENOSF1:NM_001354066:exon15:c.C1270T:p.L424F,ENOSF1:NM_202758:exon15:c.C1414T:p.L472F,ENOSF1:NM_001354067:exon16:c.C1456T:p.L486F,ENOSF1:NM_017512:exon16:c.C1312T:p.L438F	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0049	0.00359425	0.0015	0.0158	0.0011	0	0	4.498e-05	0	0	0.0013195	204	154602	rs111447271	0.0004	0.0004	0.0005	0.0004	0.0159	0.0004	0.0004	0.0147	0.0143	0.0159	0.0009	0	0	0	0.0002	1.081e-05	0.0009	5.838e-05	0.0043	0.0043	0.0046	0.0040	0.0148	0.0040	0.0039	0.0138	0.0135	0.0148	0	0.0018	0	0	0	0	5.881e-05	0.0043	0.0002	0.402	0.20607	T	0.503	0.11078	T	0.0	0.02946	B	0.001	0.04355	B	0.757186	0.09652	N	0.882965	0.994627	0.25816	N	0.65	0.16133	N	1.48	0.31731	T	0.01	0.07882	N	0.411	0.45142	-1.1099	0.03079	T	0.041	0.17785	T	10	0.003512174	0.00063	T	.	.	.	0.052	0.14661	.	.	0.208000267992	0.20380	.	.	0.0138551849472	0.01324	0.343530386686	0.16965	T	0.033056	0.22754	T	-0.518091	0.00451	T	-0.504005	0.21933	T	0.0118889904664751	0.00185	T	0.830717	0.49671	T	0.15000197	0.34169	0.10263441	0.24604	0.15000197	0.34169	0.10263441	0.24604	-6.417	0.50255	T	.	.	0.079	0.08657	B	.;.;.;.;.	.;.;.;.;.	2.605795	0.33832	19.46	0.98587365384346903	0.43323	0.82855	0.42028	D	AEFDBCI	0.240680	0.36243	N	-0.379775872318719	0.26191	1.42751	-0.149667307426592	0.33422	1.911599	0.99997539704379	0.50053	0.732398	0.92422	0	0.743671	0.97443	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.59	3.61	0.40494	1.229000	0.32202	4.625000	0.44092	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.7437:0.2563	12.404	0.54761	834	0.38640	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.07143	1682.83	35	chr18	674325	.	G	A	1682.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.02;DP=278;ExcessHet=0;FS=0.818;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.17;ReadPosRankSum=-1.834;SOR=0.887	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,105,1303:.	6	0	1	0
chr18	2795951	2795951	C	G	exonic	SMCHD1	.	nonsynonymous SNV	SMCHD1:NM_015295:exon46:c.C5722G:p.L1908V	Bosma arhinia microphthalmia syndrome, Autosomal dominant;Fascioscapulohumeral muscular dystrophy 2, digenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0663525244197	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1458894102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.28	0.21678	T	0.97	0.56973	D	0.584	0.50293	P	.	.	.	.	0.56521	0.32247	D	2.455	0.71248	M	1.84	0.24656	T	-0.61	0.18042	N	0.42	0.45992	-1.1036	0.03683	T	0.095	0.36003	T	9	0.24225739	0.41419	T	0.066353	0.69850	D	0.071	0.20720	0.187	0.09646	0.437347911502	0.43356	0.4744823695367311	0.47367	0.503748791046	0.48683	0.457110285759	0.32915	T	0.107822	0.42035	T	-0.0866464	0.38626	T	-0.362238	0.37792	T	0.651644229888916	0.38532	D	0.846715	0.52677	T	0.08421903	0.19483	0.12688169	0.30551	0.08421903	0.19483	0.12688169	0.30551	-4.637	0.32633	T	0.6074466654160531	0.67482	0.099	0.16843	B	.	.	3.692158	0.52612	23.3	0.92670574869192957	0.22153	0.95462	0.64817	D	AEFBI	0.589466	0.58634	D	0.555221346596044	0.70402	5.496054	0.587235458581485	0.74024	6.067253	0.999989453182195	0.51787	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.42	5.42	0.78666	4.166000	0.57992	5.916000	0.51093	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	18.163	0.89648	568	0.70638	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	529.63	33	chr18	2795951	.	C	G	529.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.976;DP=222;ExcessHet=0;FS=2.337;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-0.053;SOR=0.421	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr18	2891020	2891020	A	G	exonic	EMILIN2	.	nonsynonymous SNV	EMILIN2:NM_032048:exon4:c.A893G:p.Q298R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.0103086064082	.	.	.	.	.	.	.	.	.	.	.	.	.	rs918772885	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.12796	T	0.383	0.15842	T	0.609	0.39586	P	0.168	0.35187	B	0.000704	0.42254	D	0.103673	0.850396	0.28505	N	2.35	0.67516	M	1.36	0.34452	T	-0.4	0.13805	N	0.247	0.27910	-1.0669	0.10108	T	0.057	0.23942	T	10	0.16970602	0.31592	T	0.010309	0.26698	T	0.089	0.25827	0.275	0.22687	0.477143196806	0.47344	0.5191447950736493	0.51837	0.479342070191	0.46975	0.466005176306	0.34133	T	0.017413	0.14211	T	-0.0957432	0.37127	T	-0.375305	0.36270	T	0.622469842433929	0.37307	D	0.605339	0.22755	T	0.08945299	0.20901	0.10226003	0.24504	0.08945299	0.20901	0.10226003	0.24504	-6.214	0.48036	T	.	.	0.125	0.26388	B	.	.	3.602516	0.50895	23.0	0.98367625068482489	0.40709	0.90150	0.51103	D	AEFBI	0.621297	0.60604	D	0.0116547216851968	0.42385	2.552756	0.123411516424961	0.45748	2.832586	0.999877278319371	0.44625	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.566403	0.31848	0	.	.	5.09	3.92	0.44525	3.541000	0.53373	9.213000	0.79249	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.9232:0.0:0.0768:0.0	10.482	0.43885	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1121.49	103	chr18	2891020	.	A	G	1121.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.434;DP=287;ExcessHet=0;FS=1.58;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=1.22;SOR=0.606	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr18	2937701	2937701	T	C	exonic	LPIN2	.	nonsynonymous SNV	LPIN2:NM_001375808:exon7:c.A1159G:p.K387E,LPIN2:NM_001375809:exon7:c.A1159G:p.K387E,LPIN2:NM_014646:exon7:c.A1159G:p.K387E	Majeed syndrome	0	1479	38	5	0	48	0.0159681	.	.	.	103705	not_specified|Majeed_syndrome|not_provided|Psoriasis|Autoinflammatory_syndrome	MedGen:CN169374|MONDO:MONDO:0012316,MedGen:C1864997,OMIM:609628,Orphanet:77297|MedGen:C3661900|MONDO:MONDO:0005083,MedGen:C0033860,OMIM:PS177900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.525	.	0.0006	0.00678914	0.0043	0.0001	0.0009	0	0	0.0012	0.0056	0.0257	0.003771	583	154602	rs104895501	0.0023	0.0023	0.0016	0.0031	0.0260	0.0023	0.0022	0.0251	0.0247	0.0003	0.0013	0.0002	5.038e-05	9.37e-05	0.0095	0.0008	0.0025	0.0260	0.0017	0.0017	0.0012	0.0023	0.0295	0.0016	0.0015	0.0255	0.0240	0.0001	0	0.0016	0.0003	0	9.423e-05	0.0034	0.0012	0.0033	0.0295	0.106	0.29688	T	0.365	0.16717	T	0.469	0.36524	P	0.169	0.35248	B	0.000000	0.84330	D	0.042032	0.999997	0.58761	D	2.455	0.71248	M	-1.46	0.80983	T	-2.09	0.47683	N	0.513	0.54409	-0.3239	0.74313	T	0.429	0.77147	T	10	0.008249849	0.00187	T	.	.	.	0.525	0.79886	.	.	0.655422639558	0.65255	0.4558067673782812	0.45498	0.476885664701	0.46806	0.49358445406	0.37935	T	0.096917	0.39921	T	-0.00843234	0.50486	T	0.234708	0.84894	D	0.0146289846892014	0.00302	T	0.927307	0.73215	D	0.23034674	0.45788	0.22966772	0.48045	0.23515597	0.46347	0.27323538	0.53240	-5.471	0.41596	T	0.3718643203656596	0.46728	0.601	0.68900	P	.	.	3.146632	0.42582	21.6	0.99700605470064441	0.80591	0.99098	0.91196	D	AEFBI	0.605472	0.59617	D	0.21220550750028	0.51791	3.357567	0.319439671550726	0.56681	3.831987	0.999999995646822	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	5.225000	0.65124	6.120000	0.53774	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0:0.0:0.0:1.0	14.621	0.68184	741	0.52966	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.000000	0.005435	0.008772	0.000000	0.017241	0.006098	0.034091	0.07143	275.63	26	chr18	2937701	.	T	C	275.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.236;DP=196;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-1.983;SOR=0.512	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1135	6	0	1	0
chr18	7231368	7231368	A	G	exonic	LRRC30	.	nonsynonymous SNV	LRRC30:NM_001105581:exon1:c.A230G:p.N77S	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.0149861325679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.722e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48186	D	0.12	0.35970	T	0.999	0.77913	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	0.992631	0.41700	D	1.575	0.39704	L	3.07	0.08547	T	-1.98	0.45769	N	0.795	0.79118	-1.1252	0.02026	T	0.047	0.20235	T	10	0.74293566	0.75086	D	0.014986	0.35458	T	0.204	0.49076	0.395	0.42099	0.48748946032	0.48381	0.1284806806019804	0.12773	0.350990176469	0.36944	0.535311341286	0.43783	T	0.030688	0.21697	T	-0.210996	0.19240	T	-0.540858	0.18213	T	0.908436477184296	0.56302	D	0.913309	0.69109	D	0.23673062	0.46527	0.29507414	0.55539	0.23673062	0.46527	0.29507414	0.55538	-4.95	0.36292	T	.	.	0.442	0.61811	A	.	.	4.125993	0.61706	24.4	0.99873419484491988	0.95076	0.99771	0.99347	D	AEFDBI	0.884632	0.81447	D	0.667040484425876	0.77474	6.681899	0.703244489509769	0.82624	7.813573	0.999918313677291	0.45857	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.65	5.65	0.86881	8.627000	0.90743	9.326000	0.80089	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.186	0.81771	954	0.10045	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	972.83	39	chr18	7231368	.	A	G	972.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.528;DP=276;ExcessHet=0;FS=4.105;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=1.12;SOR=1.206	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1149	6	0	1	0
chr18	8825273	8825273	C	T	exonic	MTCL1	.	nonsynonymous SNV	MTCL1:NM_001378205:exon13:c.C4720T:p.R1574C,MTCL1:NM_001378207:exon13:c.C4720T:p.R1574C,MTCL1:NM_001378206:exon14:c.C4843T:p.R1615C,MTCL1:NM_015210:exon15:c.C3763T:p.R1255C	.	426	1064	30	2	0	34	0.0157262	.	.	.	727831	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.058	.	0.0018	0.00319489	0.0025	0.0026	0.0015	0	0	0.0013	0.0064	0.0148	0.0024385	377	154602	rs115783507	0.0017	0.0018	0.0013	0.0021	0.0150	0.0016	0.0016	0.0142	0.0140	0.0024	0.0013	0.0066	0	0.0002	0.0093	0.0007	0.0026	0.0150	0.0019	0.0019	0.0017	0.0021	0.0139	0.0017	0.0016	0.0112	0.0102	0.0026	0	0.0014	0.0032	0	0	0.0034	0.0010	0.0033	0.0139	0.231	0.18246	T	0.058	0.48336	T	0.04	0.21238	B	0.006	0.12133	B	0.808809	0.09266	N	0.896444	1	0.08975	N	1.12	0.28775	L	2.46	0.32238	T	-2.34	0.51811	N	0.121	0.17828	-0.9916	0.32193	T	0.058	0.24279	T	10	0.006587088	0.00149	T	.	.	.	0.058	0.16647	.	.	0.433269665224	0.42948	0.12311606395852297	0.12237	0.132553004888	0.14941	0.273410499096	0.06589	T	0.065638	0.32740	T	-0.542483	0.00324	T	-0.54034	0.18263	T	0.0187244205625075	0.00585	T	0.783822	0.42110	T	0.0751708	0.16919	0.030532356	0.01521	0.0751708	0.16918	0.030532356	0.01521	-5.308	0.40022	T	.	.	0.084	0.09723	B	.;.;.;.;.	.;.;.;.;.	1.482506	0.19084	14.08	0.6408629089340887	0.07398	0.72841	0.35641	D	AEFDBCI	0.292055	0.40303	N	-0.607389848959107	0.18722	0.9742389	-0.630697175372214	0.18706	1.000479	0.999981598357496	0.51787	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.04	-0.226	0.12460	2.502000	0.45058	-0.736000	0.07640	0.599000	0.40250	0.995000	0.38783	0.000000	0.08366	0.028000	0.12845	0.1211:0.5581:0.1173:0.2035	3.262	0.06447	846	0.36215	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.000000	0.000000	0.005848	0.050000	0.008621	0.009146	0.011364	0.07143	989.46	37	chr18	8825273	.	C	T	989.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.372;DP=346;ExcessHet=0;FS=1.655;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.161;SOR=0.53	GT:AD:DP:GQ:PL	0/0:70,0:70:99:0,120,1800	6	0	1	0
chr18	9255473	9255473	A	G	exonic	ANKRD12	.	nonsynonymous SNV	ANKRD12:NM_001083625:exon8:c.A2137G:p.T713A,ANKRD12:NM_001204056:exon8:c.A2137G:p.T713A,ANKRD12:NM_015208:exon9:c.A2206G:p.T736A	.	440	1057	25	0	0	25	0.0116877	.	.	.	3547058	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.162	.	0.0076	0.00299521	0.0091	0.0024	0.0050	0	0.0080	0.0130	0.0082	0.0056	0.0087062	1346	154602	rs114230285	0.0092	0.0091	0.0094	0.0090	0.0104	0.0090	0.0090	0.0102	0.0102	0.0019	0.0043	0.0050	2.587e-05	0.0059	0.0078	0.0104	0.0082	0.0058	0.0059	0.0059	0.0066	0.0053	0.0099	0.0056	0.0055	0.0092	0.0090	0.0018	0	0.0040	0.0049	0	0.0036	0.0034	0.0099	0.0085	0.0048	0.433	0.09458	T	0.797	0.04142	T	0.0	0.02946	B	0.0	0.04355	B	0.035276	0.24665	N	0.444910	1	0.08975	N	-0.06	0.04898	N	-2.99	0.92108	D	-0.33	0.12472	N	0.074	0.04790	-0.7407	0.58417	T	0.291	0.66288	T	10	0.0035377443	0.00063	T	.	.	.	0.162	0.41843	.	.	0.151262610727	0.14761	0.007321108822763013	0.00698	.	.	0.310919225216	0.12045	T	0.004863	0.04280	T	-0.505411	0.00533	T	-0.48644	0.23764	T	0.000794020032158277	0.00007	T	0.50265	0.15781	T	0.023449413	0.01085	0.015422944	0.00007	0.023449413	0.01085	0.015422944	0.00007	-3.784	0.20834	T	.	.	0.067	0.02428	B	.;.	.;.	-0.456095	0.02011	0.179	0.75694506732214184	0.11175	0.01337	0.04602	N	AEFBI	0.072961	0.14577	N	-1.06985989756284	0.07203	0.3339344	-0.984005802213982	0.10145	0.5090687	0.52689607684772	0.21143	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.95	-0.551	0.11230	-0.562000	0.06041	0.092000	0.14529	-0.113000	0.14837	0.000000	0.06391	0.067000	0.22148	0.970000	0.54328	0.3209:0.1537:0.3752:0.1502	1.711	0.02718	356	0.85138	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.010574	0.000000	0.013587	0.017544	0.050000	0.000000	0.006098	0.015152	0.07143	345.53	33	chr18	9255473	.	A	G	345.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.79;DP=185;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-1.628;SOR=0.582	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1144	6	0	1	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	41684.9	278	chr18	9887397	.	C	*	41684.9	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.25;DP=2779;ExcessHet=0.0921;FS=0.655;MLEAC=2;MLEAF=0.143;MQ=59.74;MQRankSum=-0.208;QD=19.82;ReadPosRankSum=0.247;SOR=0.633	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:3,0:563:99:.:.:16848,15511,17472:.	5	0	2	0
chr18	10705465	10705465	G	A	exonic	PIEZO2	.	nonsynonymous SNV	PIEZO2:NM_022068:exon37:c.C5531T:p.S1844L,PIEZO2:NM_001378183:exon41:c.C5870T:p.S1957L	Arthrogryposis, distal, type 3, Autosomal dominant;Arthrogryposis, distal, type 5, Autosomal dominant;Arthrogryposis, distal, with impaired proprioception and touch, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	0.0547090563143	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1260084326	5.054e-06	4.788e-06	8.553e-06	1.463e-06	6.488e-06	2.1e-06	1.35e-06	2.7e-06	1.74e-06	0	0	0	0	0	0	6.488e-06	0	0	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.165	0.23271	T	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	0.922216	0.36711	D	0.77	0.19370	N	-0.84	0.74265	T	-2.11	0.48020	N	0.561	0.58543	-0.4180	0.71456	T	0.332	0.69919	T	7	0.27597895	0.45158	T	0.054709	0.65957	D	0.397	0.71163	0.185	0.09388	0.502707129593	0.49909	0.4939751311091993	0.49318	0.514829843457	0.49406	0.383855581284	0.22802	T	0.052655	0.37962	T	0.165009	0.70663	D	0.106904	0.77368	D	0.199931487846276	0.20412	T	0.940906	0.78939	D	0.05764141	0.11498	0.086300954	0.19986	0.05764141	0.11498	0.086300954	0.19986	-4.297	0.28135	T	0.1920505688030756	0.25221	0.096	0.19032	B	.;.;.;.;.	.;.;.;.;.	3.874037	0.56268	23.7	0.8863080559391826	0.18129	0.92072	0.54882	D	AEFBCI	0.864161	0.78288	D	0.0733587489199731	0.45222	2.782443	0.108735459243814	0.44993	2.770632	0.999986030754284	0.51787	0.631515	0.41029	0	0.697927	0.68747	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.67	5.67	0.87673	7.219000	0.77491	8.711000	0.78136	-0.107000	0.15377	1.000000	0.71638	1.000000	0.68203	0.010000	0.09038	0.0:0.0:1.0:0.0	19.764	0.96328	832	0.38914	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1576.44	35	chr18	10705465	.	G	A	1576.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.42;DP=358;ExcessHet=0;FS=3.664;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=0.45;SOR=0.801	GT:AD:DP:GQ:PL	0/1:97,68:165:99:1587,0,2254	6	0	1	0
chr18	12814235	12814235	C	T	exonic	PTPN2	.	nonsynonymous SNV	PTPN2:NM_001308287:exon6:c.G739A:p.A247T,PTPN2:NM_002828:exon7:c.G826A:p.A276T,PTPN2:NM_080422:exon7:c.G826A:p.A276T,PTPN2:NM_080423:exon7:c.G826A:p.A276T,PTPN2:NM_001207013:exon8:c.G895A:p.A299T	.	.	.	.	.	.	.	.	.	.	.	3585126	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.102	0.00876789102268	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207461588	6.903e-07	3.421e-06	0	1.387e-06	1.18e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.18e-05	1.314e-05	1.314e-05	0	2.691e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.039	0.54934	D	0.535	0.43786	P	0.192	0.37572	B	0.001669	0.38326	N	0.115428	0.999173	0.51042	D	3.2	0.89116	M	3.59	0.08547	T	-3.58	0.69477	D	0.344	0.41261	-1.1337	0.01613	T	0.021	0.08917	T	10	0.35547003	0.52307	T	0.008768	0.23147	T	0.102	0.29158	0.427	0.47350	0.372852800391	0.36900	0.6334288060791295	0.63276	0.105728612331	0.11951	0.501613557339	0.39053	T	0.381024	0.74343	T	-0.0684986	0.41567	T	-0.33617	0.40778	T	0.963272750377655	0.66611	D	0.937806	0.76632	D	0.35962412	0.57807	0.25244695	0.50874	0.35962412	0.57808	0.25244695	0.50873	-9.242	0.69757	D	.	.	0.158	0.47524	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.106374	0.61274	24.3	0.99791293313253737	0.87661	0.97939	0.78280	D	AEFDGBI	0.505265	0.53649	D	0.395752582900315	0.61191	4.316961	0.491495573655148	0.67425	5.082329	0.999999940755575	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.86	5.86	0.93936	3.760000	0.54947	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1426:0.8574:0.0:0.0	14.969	0.70864	746	0.52331	.;.;.;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	60.43	22	chr18	12814235	.	C	T	60.43	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.57;DP=128;ExcessHet=0;FS=9.185;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.75;ReadPosRankSum=0.741;SOR=3.477	GT:AD:DP:GQ:PL	0/0:31,0:31:47:0,47,673	5	0	1	1
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	1890.48	127	chr18	14513679	.	T	G	1890.48	.	AC=6;AF=0.429;AN=14;BaseQRankSum=2.8;DP=845;ExcessHet=8.2628;FS=14.603;MLEAC=6;MLEAF=0.429;MQ=51.15;MQRankSum=-7.498;QD=2.38;ReadPosRankSum=-2.668;SOR=1.982	GT:AD:DP:GQ:PL	0/1:150,19:169:99:156,0,3719	1	0	6	0
chr18	14533138	14533138	C	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon5:c.G978C:p.E326D	.	560	961	1	0	0	1	0.000520021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00503084544389	.	0.000199681	0.0005	0.0001	0.0004	0	0.0005	0.0009	0	0	6.5e-06	1	154602	rs541271454	0.0006	0.0006	0.0006	0.0006	0.0007	0.0005	0.0005	0.0006	0.0006	5.992e-05	0.0004	0.0006	0	0.0004	0.0002	0.0007	0.0005	0	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	7.221e-05	0	0.0005	0.0006	0	9.432e-05	0	0.0004	0.0009	0	0.142	0.25457	T	0.138	0.33780	T	0.685	0.41537	P	0.396	0.44364	B	.	.	.	.	1	0.08975	N	0.77	0.19370	N	-0.25	0.67011	T	-1.43	0.35194	N	0.178	0.19190	-0.9829	0.34328	T	0.141	0.46165	T	9	0.03785792	0.02166	T	0.005031	0.12722	T	0.045	0.12272	0.373	0.38503	0.623114596716	0.62004	0.11026446638219198	0.10955	.	.	0.803986310959	0.82571	D	0.006769	0.06199	T	-0.499271	0.00577	T	-0.583859	0.14202	T	0.0307874940935934	0.02111	T	0.40156	0.10241	T	0.051650546	0.09516	0.04720538	0.06748	0.051650546	0.09516	0.04720538	0.06747	-7.639	0.58582	D	.	.	0.221	0.45236	B	.;.	.;.	0.728087	0.10974	7.636	0.98504002363058218	0.42252	0.00756	0.03136	N	AEFI	0.034118	0.04171	N	-0.905701572053082	0.10708	0.5130147	-1.08867980991292	0.07923	0.3873386	1.09828599737309E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.09	0.159	0.14256	-1.069000	0.03555	.	.	-0.584000	0.04686	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7054:0.0:0.2946	3.369	0.06794	940	0.13648	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	61.44	40	chr18	14533138	.	C	G	61.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.559;DP=247;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=38.62;MQRankSum=-0.508;QD=6.83;ReadPosRankSum=-0.475;SOR=0.446	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr18	23235986	23235986	G	A	exonic	CABLES1	.	nonsynonymous SNV	CABLES1:NM_001100619:exon6:c.G1277A:p.R426H,CABLES1:NM_001256438:exon6:c.G296A:p.R99H,CABLES1:NM_138375:exon6:c.G482A:p.R161H	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.0110952766119	.	.	1.656e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs757013390	6.84e-06	6.84e-06	6.806e-06	6.875e-06	4.637e-05	3.46e-06	2.52e-06	1.583e-05	9.3e-06	0	0	0	2.519e-05	0	0	2.698e-06	3.312e-05	4.637e-05	6.571e-06	6.567e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.038	0.53172	D	0.009	0.67890	D	0.484	0.36838	P	0.08	0.28873	B	0.000000	0.84330	N	0.048640	0.999999	0.81001	D	2.505	0.72935	M	0.85	0.50459	T	-2.17	0.54864	N	0.325	0.36569	-0.9713	0.36925	T	0.118	0.41560	T	10	0.17367864	0.32208	T	0.011095	0.28353	T	0.121	0.33580	.	.	0.486422812247	0.48275	0.5132966498681162	0.51251	0.65979765614	0.58824	0.380588918924	0.22339	T	0.51589	0.82976	D	-0.102057	0.36082	T	-0.28752	0.46029	T	0.892241179943085	0.54331	D	0.924208	0.72277	D	0.2689656	0.49969	0.13807297	0.32985	0.2689656	0.49969	0.13807297	0.32984	-6.783	0.60496	T	.	.	0.091	0.26700	B	.;.;.	.;.;.	4.867099	0.79695	27.2	0.99946165202771731	0.99901	0.92466	0.55777	D	AEFDBCI	0.872470	0.79434	D	0.0859240635334372	0.45807	2.831102	0.170358511714418	0.48230	3.041823	0.999999963069958	0.74766	0.741868	0.97996	0	0.702456	0.74545	0	0.774882	0.98623	0	0.714379	0.83352	0	.	.	5.47	3.65	0.40985	7.723000	0.83751	9.740000	0.81431	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0705:0.0:0.7926:0.1369	10.171	0.42086	853	0.34956	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1564.46	34	chr18	23235986	.	G	A	1564.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.11;DP=299;ExcessHet=0;FS=1.479;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=2.27;SOR=0.845	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1327	6	0	1	0
chr18	23529225	23529225	C	T	exonic	RMC1	.	nonsynonymous SNV	RMC1:NM_001318707:exon12:c.C872T:p.P291L,RMC1:NM_001276342:exon13:c.C1199T:p.P400L,RMC1:NM_001318709:exon13:c.C1199T:p.P400L,RMC1:NM_001318708:exon14:c.C872T:p.P291L,RMC1:NM_013326:exon15:c.C1343T:p.P448L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00461457738329	.	.	8.248e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs780377353	1.642e-05	1.71e-05	1.634e-05	1.65e-05	2.987e-05	1.111e-05	9.33e-06	1.295e-05	1.106e-05	2.987e-05	0	0	0	0	0	1.978e-05	1.656e-05	0	3.286e-05	3.284e-05	2.57e-05	4.035e-05	6.544e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	2.413e-05	0	6.544e-05	0	0	0	0	4.41e-05	0	0	0.297	0.14645	T	0.081	0.41742	T	0.317	0.32920	B	0.018	0.18489	B	0.000000	0.84330	D	0.054438	1	0.81001	D	.	.	.	.	.	.	-2.1	0.47852	N	0.431	0.47022	-0.6856	0.61113	T	0.228	0.59296	T	9	0.26562744	0.44061	T	0.004615	0.11409	T	0.125	0.34456	0.379	0.39482	0.143184338766	0.13958	0.40891642257278565	0.40807	0.385089870222	0.39798	.	.	.	0.028988	0.28678	T	0.00620118	0.52506	T	-0.165223	0.57878	T	0.788753032684326	0.45608	D	0.90391	0.68723	D	0.075735055	0.17083	0.11272853	0.27202	0.075735055	0.17083	0.11272853	0.27202	-3.081	0.11079	T	.	.	0.199	0.42244	B	.;.;.	.;.;.	3.221468	0.43898	21.8	0.98632481877783862	0.43933	0.98109	0.79674	D	AEFDGBHCI	0.798937	0.72534	D	0.381054060712874	0.60397	4.228055	0.470999850835212	0.66075	4.905263	1.0	0.98316	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.71	5.71	0.89031	5.786000	0.68654	4.010000	0.41153	-0.182000	0.10109	1.000000	0.71638	0.999000	0.35428	0.790000	0.37311	0.0:1.0:0.0:0.0	19.858	0.96765	850	0.35610	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	531.83	46	chr18	23529225	.	C	T	531.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.45;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=0.033;SOR=0.706	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1132	6	0	1	0
chr18	24170334	24170334	C	T	exonic	OSBPL1A	.	nonsynonymous SNV	OSBPL1A:NM_018030:exon10:c.G872A:p.S291N,OSBPL1A:NM_001242508:exon12:c.G1265A:p.S422N,OSBPL1A:NM_080597:exon24:c.G2411A:p.S804N	.	435	1065	20	2	0	24	0.0111421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00347509298381	0.0025	0.00179712	0.0028	0.0002	0.0029	0	0.0009	0.0040	0.0055	0.0018	0.0027102	419	154602	rs145164093	0.0029	0.0029	0.0029	0.0029	0.0224	0.0028	0.0028	0.0192	0.0180	0.0007	0.0031	0.0081	0	0.0010	0.0224	0.0030	0.0040	0.0015	0.0023	0.0023	0.0023	0.0023	0.0037	0.0021	0.0020	0.0029	0.0026	0.0004	0.0033	0.0037	0.0078	0	0.0011	0.0170	0.0031	0.0061	0.0017	0.189	0.24183	T	0.47	0.16964	T	0.005	0.12996	B	0.016	0.17743	B	0.000007	0.62929	D	0.178386	0.993487	0.42998	D	0.465	0.13073	N	0.88	0.46028	T	-0.94	0.25118	N	0.084	0.09349	-1.0874	0.05978	T	0.046	0.19680	T	10	0.0076363385	0.00173	T	0.003475	0.07847	T	0.054	0.15330	.	.	0.447901950027	0.44410	0.5501369350353928	0.54939	0.612468718494	0.55841	0.471761316061	0.34923	T	0.008211	0.07549	T	-0.585582	0.00178	T	-0.613109	0.11734	T	0.0148710582945456	0.00315	T	0.858514	0.54939	D	0.092811055	0.21782	0.09101889	0.21376	0.092811055	0.21782	0.09101889	0.21376	-3.778	0.23203	T	.	.	0.072	0.04080	B	.;.;.;.	.;.;.;.	3.091758	0.41634	21.4	0.944233536273972	0.24831	0.88817	0.48929	D	AEFBCI	0.255581	0.37468	N	-0.0708103212032958	0.38677	2.268942	0.163818028084428	0.47879	3.011576	0.613633015583558	0.21824	0.732398	0.92422	0	0.547309	0.14657	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.89	5.89	0.94758	2.318000	0.43438	7.637000	0.63009	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1448:0.7834:0.0:0.0718	9.341	0.37241	942	0.12992	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018630	0.010101	0.027174	0.026316	0.000000	0.017241	0.009146	0.007576	0.08333	768.27	34	chr18	24170334	.	C	T	768.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.145;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=1.54;SOR=0.716	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1198	5	0	1	1
chr18	26052805	26052805	T	G	exonic	SS18	.	nonsynonymous SNV	SS18:NM_001007559:exon5:c.A426C:p.Q142H,SS18:NM_001308201:exon5:c.A357C:p.Q119H,SS18:NM_005637:exon5:c.A426C:p.Q142H	Sarcoma, synovial (1)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.0211692380011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.004	0.74150	D	0.94	0.52768	P	0.564	0.49695	P	0.000000	0.84330	D	0.000000	0.993843	0.54805	D	1.955	0.52871	M	1.35	0.34648	T	-1.72	0.41618	N	0.735	0.75101	-1.0778	0.07781	T	0.092	0.35174	T	10	0.25403965	0.42778	T	0.021169	0.43897	T	0.135	0.36572	0.251	0.18912	0.362933182269	0.35899	0.3424979934914235	0.34162	0.619389203254	0.56290	0.677848815918	0.63960	T	0.265629	0.63751	T	0.0405682	0.57121	T	-0.179503	0.56569	T	0.864418923854828	0.51459	D	0.926607	0.75038	D	0.20351705	0.42431	0.16310057	0.37852	0.20351705	0.42431	0.16310057	0.37851	-4.319	0.28442	T	.	.	0.152	0.41798	B	.;.;.;.;.	.;.;.;.;.	2.561469	0.33175	19.26	0.90938861408066418	0.20187	0.89698	0.50330	D	AEFDGBI	0.565007	0.57157	D	0.0646062913086806	0.44818	2.748906	0.0497766893088584	0.42061	2.537543	0.988441372597159	0.31518	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.77	0.836	0.18026	0.125000	0.15577	0.340000	0.17371	0.665000	0.62972	0.976000	0.34826	0.997000	0.33255	1.000000	0.97212	0.0:0.2832:0.0:0.7168	9.107	0.35865	956	0.09877	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1608.53	33	chr18	26052805	.	T	G	1608.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.56;DP=292;ExcessHet=0;FS=0.741;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.277;SOR=0.613	GT:AD:DP:GQ:PL	0/1:46,69:115:99:1619,0,1054	6	0	1	0
chr18	26917110	26917110	T	A	exonic	CHST9	.	nonsynonymous SNV	CHST9:NM_031422:exon6:c.A481T:p.S161C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.0371225976675	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	0.771	0.43934	P	0.417	0.44992	B	0.000201	0.00519	N	3.927780	0.862682	0.81001	D	1.75	0.45442	L	-0.26	0.67187	T	.	.	.	0.2	0.22098	-0.8409	0.52587	T	0.314	0.68361	T	10	0.30123568	0.47667	T	0.037123	0.57424	D	.	.	0.557	0.67547	0.790743069121	0.78879	0.4215112316694793	0.42067	.	.	0.423253893852	0.28284	T	0.188739	0.54274	T	-0.0432799	0.45461	T	-0.299945	0.44730	T	0.920431852340698	0.57960	D	0.766723	0.39447	T	0.16476113	0.36704	0.18406029	0.41435	0.16476113	0.36703	0.18406029	0.41434	-5.647	0.43219	T	.	.	0.150	0.33273	B	.;.	.;.	4.047378	0.59964	24.2	0.99128885831508851	0.53195	0.89673	0.50289	D	AEFBHCI	0.616746	0.60319	D	0.324759241017436	0.57422	3.90945	0.42967816341224	0.63422	4.575605	0.999999997508812	0.74766	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	6.16	6.16	0.99302	3.191000	0.50682	5.092000	0.47362	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.806	0.85530	931	0.16308	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	943.53	35	chr18	26917110	.	T	A	943.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.04;DP=244;ExcessHet=0;FS=3.459;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=0.34;SOR=0.542	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr18	31388386	31388386	C	T	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon4:c.C236T:p.S79L,DSG4:NM_177986:exon4:c.C236T:p.S79L	Hypotrichosis 6, Autosomal recessive	1	1486	35	0	0	35	0.0116395	.	.	.	715937	Hypotrichosis_6|DSG4-related_disorder|not_provided	MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.010	.	0.0048	0.00439297	0.0042	0.0046	0.0027	0	0	0.0051	0.0044	0.0053	0.0040297	623	154602	rs36040686	0.0032	0.0032	0.0030	0.0033	0.0191	0.0031	0.0031	0.0162	0.0151	0.0050	0.0033	0.0436	0	0.0003	0.0191	0.0020	0.0065	0.0048	0.0038	0.0038	0.0039	0.0037	0.0060	0.0035	0.0034	0.0043	0.0037	0.0031	0	0.0042	0.0542	0	0.0004	0.0340	0.0021	0.0057	0.0060	0.264	0.16358	T	0.155	0.31936	T	0.054	0.22658	B	0.046	0.24676	B	0.727362	0.06349	N	1.212930	0.999999	0.08975	N	0.915	0.23335	L	0.74	0.50459	T	-1.75	0.41428	N	0.107	0.10340	-0.9614	0.38916	T	0.073	0.29675	T	10	0.0033466518	0.00058	T	.	.	.	0.010	0.01040	.	.	0.276898752692	0.27294	0.13389012196261588	0.13313	0.029762402894	0.03065	0.298493921757	0.10177	T	0.108723	0.42200	T	-0.647278	0.00075	T	-0.698542	0.05906	T	0.00208938657306135	0.00022	T	0.162684	0.01721	T	0.038331885	0.05086	0.049947403	0.07739	0.03988346	0.05589	0.039548468	0.04072	-2.372	0.04964	T	.	.	0.072	0.07224	B	.;.	.;.	-0.453279	0.02022	0.181	0.92623994699646028	0.22094	0.01138	0.04130	N	AEFI	0.026801	0.02075	N	-1.0116172173723	0.08362	0.3917972	-1.0389198890453	0.08939	0.4420613	0.00372337501722856	0.10253	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.73	-1.72	0.07671	-1.225000	0.03066	-3.198000	0.02978	-0.850000	0.02721	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.1368:0.358:0.0:0.5052	6.536	0.21550	643	0.63827	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025176	0.030303	0.036685	0.043860	0.000000	0.008621	0.009146	0.007576	0.1429	1709.24	34	chr18	31388386	.	C	T	1709.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.5;DP=313;ExcessHet=0.3476;FS=1.297;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=1.92;SOR=0.589	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1185	5	0	2	0
chr18	31399464	31399464	G	A	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon9:c.G1198A:p.G400R,DSG4:NM_177986:exon9:c.G1198A:p.G400R	Hypotrichosis 6, Autosomal recessive	0	1484	38	0	0	38	0.0126414	.	.	.	576181	DSG4-related_disorder|not_provided|Hypotrichosis_6	.|MedGen:C3661900|MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.179	.	0.0050	0.00439297	0.0043	0.0046	0.0027	0	0	0.0052	0.0044	0.0058	0.0040685	629	154602	rs35378785	0.0033	0.0033	0.0031	0.0034	0.0203	0.0032	0.0032	0.0173	0.0162	0.0051	0.0033	0.0435	0	0.0003	0.0203	0.0021	0.0067	0.0055	0.0039	0.0039	0.0039	0.0039	0.0068	0.0036	0.0035	0.0050	0.0044	0.0031	0	0.0042	0.0541	0	0.0004	0.0408	0.0022	0.0057	0.0068	0.74	0.03696	T	0.19	0.28860	T	0.531	0.90584	P	0.247	0.80445	B	0.077327	0.21110	N	0.246143	0.939708	0.37270	D	0.495	0.13372	N	0.35	0.59037	T	-0.51	0.15986	N	0.689	0.69474	-0.8261	0.53550	T	0.188	0.53827	T	10	0.0041315258	0.00081	T	.	.	.	0.179	0.44899	0.414	0.45216	0.800236202846	0.79837	0.3010113199831233	0.30014	0.252222878455	0.27793	0.465308904648	0.34037	T	0.102842	0.41094	T	-0.180223	0.23702	T	-0.0276499	0.68524	D	0.0494035485741406	0.05395	T	0.692831	0.31596	T	0.10689115	0.25275	0.13068023	0.31396	0.097276576	0.22927	0.090244345	0.21151	-7.606	0.58353	D	.	.	0.346	0.56311	A	.;.	.;.	2.539861	0.32855	19.17	0.9951036776297365	0.68618	0.73441	0.35924	D	AEFDGBCI	0.203974	0.33044	N	0.267983728041288	0.54534	3.618692	0.339373258754207	0.57870	3.954535	0.999999994021206	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.33	5.33	0.75683	3.309000	0.51613	2.699000	0.34147	0.676000	0.76740	0.291000	0.25242	1.000000	0.68203	0.979000	0.57723	0.0758:0.0:0.9242:0.0	12.717	0.56492	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.027694	0.035354	0.038043	0.046784	0.000000	0.008621	0.009146	0.011364	0.2143	4275.72	33	chr18	31399464	.	G	A	4275.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.56;DP=478;ExcessHet=1.1394;FS=1.791;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.082;SOR=0.802	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1176	4	0	3	0
chr18	31403566	31403566	C	T	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon11:c.C1568T:p.P523L,DSG4:NM_177986:exon11:c.C1568T:p.P523L	Hypotrichosis 6, Autosomal recessive	2	1440	77	3	0	83	0.0280121	.	.	.	237228	not_provided|Hypotrichosis_6	MedGen:C3661900|MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.436	.	0.0073	0.00798722	0.0086	0.0009	0.0049	0.0001	0.0014	0.0090	0.0099	0.0219	0.0083893	1297	154602	rs34620697	0.0073	0.0073	0.0067	0.0079	0.0193	0.0072	0.0071	0.0185	0.0182	0.0008	0.0053	0.0099	5.039e-05	0.0020	0.0180	0.0070	0.0083	0.0193	0.0054	0.0054	0.0055	0.0053	0.0197	0.0051	0.0050	0.0165	0.0153	0.0011	0.0154	0.0056	0.0101	0.0002	0.0012	0.0068	0.0077	0.0057	0.0197	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.998	0.92359	D	0.003957	0.34294	N	0.000000	1	0.81001	D	3.7	0.94612	H	-0.01	0.62762	T	-7.66	0.95511	D	0.672	0.67995	-0.0615	0.80961	T	0.425	0.76890	T	10	0.0106598735	0.00236	T	.	.	.	0.436	0.74093	.	.	0.927137678208	0.92639	0.652556277191424	0.65191	0.248225803681	0.27384	0.45504295826	0.32633	T	0.624655	0.88286	D	-0.2795	0.10720	T	-0.158002	0.58531	T	0.0894284915205194	0.11150	T	0.851115	0.53499	D	0.43418938	0.63025	0.5285101	0.72758	0.46111244	0.64740	0.5285101	0.72759	-7.308	0.56253	T	.	.	0.417	0.60533	A	.;.	.;.	4.483836	0.69979	25.5	0.99870903935111033	0.94815	0.88443	0.48373	D	AEFGBHCIJ	0.497987	0.53228	N	0.794065608974443	0.85734	8.665106	0.729373834982191	0.84610	8.339843	0.999999999997648	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.01	6.01	0.97420	4.117000	0.57623	5.930000	0.51304	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.287000	0.24188	0.0:1.0:0.0:0.0	20.125	0.97974	718	0.55760	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014602	0.010101	0.009511	0.000000	0.000000	0.008621	0.018293	0.041667	0.07143	1745.49	33	chr18	31403566	.	C	T	1745.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.82;DP=333;ExcessHet=0;FS=1.29;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-0.443;SOR=0.556	GT:AD:DP:GQ:PL	0/1:81,74:155:99:1756,0,1816	6	0	1	0
chr18	31466577	31466577	G	T	exonic	DSG3	.	nonsynonymous SNV	DSG3:NM_001944:exon11:c.G1459T:p.D487Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	0.0670760796422	.	.	.	.	.	.	.	.	.	.	.	.	.	rs771845317	6.841e-07	6.84e-07	1.361e-06	0	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	6.57e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.003	0.68238	D	0.006	0.70582	D	0.989	0.62824	D	0.854	0.60866	P	0.359135	0.04293	N	1.479250	1	0.08975	N	3.515	0.92918	H	-0.59	0.71543	T	-5.94	0.89093	D	0.374	0.41557	-0.3320	0.74075	T	0.567	0.84308	D	10	0.9023046	0.89593	D	0.067076	0.70060	D	0.288	0.60691	0.818	0.93195	0.775751026681	0.77369	0.7820997786912135	0.78160	0.217819487897	0.24309	0.275861978531	0.06922	T	0.816728	0.95476	D	-0.139861	0.29914	T	-0.269549	0.47864	T	0.494420496509199	0.32426	T	0.324967	0.06659	T	0.13669717	0.31678	0.20389459	0.44487	0.13669717	0.31678	0.20389459	0.44486	-7.169	0.55259	T	.	.	0.143	0.31583	B	.	.	1.507631	0.19370	14.23	0.95887907451324328	0.28095	0.22358	0.21719	N	AEFBCI	0.063215	0.12200	N	-0.620639080915892	0.18325	0.9504765	-0.905071840166771	0.11973	0.6132792	0.114002070812458	0.16722	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.97	-2.53	0.05959	0.556000	0.23144	-0.024000	0.12886	-3.964000	0.00049	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2501:0.1031:0.6469:0.0	10.293	0.42791	726	0.54788	Cadherin-like|Cadherin conserved site|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2469.44	42	chr18	31466577	.	G	T	2469.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.69;DP=399;ExcessHet=0;FS=2.478;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-0.01;SOR=0.915	GT:AD:DP:GQ:PL	0/1:103,98:201:99:2480,0,2239	6	0	1	0
chr18	31522209	31522209	C	T	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon6:c.C650T:p.T217I	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	0	1518	3	1	0	5	0.0016442	.	.	YES	410345	not_provided|Arrhythmogenic_right_ventricular_cardiomyopathy|Cardiomyopathy|Arrhythmogenic_right_ventricular_dysplasia_10	MedGen:C3661900|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012434,MedGen:C1857777,OMIM:610193	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.493	0.0560749549383	.	.	.	.	.	.	.	.	.	.	.	.	.	rs776720174	7.526e-06	7.524e-06	6.808e-06	8.252e-06	0.0012	4.04e-06	2.95e-06	0.0006	0.0004	0	0	0	0	0	0.0012	8.995e-07	4.969e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.989	0.78396	D	0.000454	0.44317	D	0.097855	0.999779	0.48980	D	3.95	0.96445	H	0.36	0.57880	T	-5.05	0.82700	D	0.748	0.74735	0.443	0.89725	D	0.536	0.82825	D	10	0.841125	0.83269	D	0.056075	0.66470	D	0.493	0.77910	0.705	0.84145	0.933454792682	0.93276	0.7977416632705	0.79727	0.431880939592	0.43375	0.668151736259	0.62574	T	0.636464	0.88798	D	0.31377	0.84023	D	0.212932	0.83814	D	0.999111950397491	0.96225	D	0.748325	0.39577	T	0.8439963	0.86895	0.77826494	0.86923	0.8439963	0.86897	0.77826494	0.86924	-11.272	0.81129	D	0.8399998077326192	0.90874	0.708	0.79432	P	.;.	.;.	4.436079	0.68840	25.3	0.93127623786225344	0.22766	0.99086	0.91019	D	AEFBI	0.658037	0.62945	D	0.966459544437244	0.94615	12.899	0.85051639811843	0.93045	11.79062	0.999968604307842	0.48965	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	5.53	4.61	0.56724	4.473000	0.59928	6.004000	0.52535	0.596000	0.33519	0.999000	0.42656	1.000000	0.68203	0.997000	0.79791	0.1324:0.8676:0.0:0.0	16.316	0.82761	744	0.52588	Cadherin-like|Cadherin-like;Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1087.46	125	chr18	31522209	.	C	T	1087.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.858;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.7;ReadPosRankSum=-1.53;SOR=0.647	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr18	31531145	31531145	C	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon9:c.C1173A:p.S391R	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	0	1521	1	0	0	1	0.000328623	.	.	.	490825	Arrhythmogenic_right_ventricular_dysplasia_10|Arrhythmogenic_right_ventricular_cardiomyopathy|not_provided|Cardiomyopathy|Cardiovascular_phenotype	MONDO:MONDO:0012434,MedGen:C1857777,OMIM:610193|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.125	0.0561756737894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	1.361e-06	4.125e-06	2.987e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	2.987e-05	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.13	0.34716	T	0.664	0.41009	P	0.197	0.36707	B	0.191662	0.16830	N	0.601855	1	0.08975	N	2.495	0.72670	M	0.1	0.61326	T	-1.75	0.41428	N	0.38	0.42149	-1.0165	0.24852	T	0.141	0.46035	T	10	0.19300362	0.35051	T	0.056176	0.66507	D	0.125	0.34456	0.421	0.46365	0.664503584741	0.66168	0.35811215697833537	0.35725	0.197909817014	0.22159	0.328558385372	0.14716	T	0.204785	0.56365	T	-0.0989463	0.36600	T	-0.379906	0.35733	T	0.202061355113983	0.20529	T	0.559944	0.19565	T	0.13894515	0.32115	0.08156004	0.18546	0.13894515	0.32115	0.08156004	0.18545	-7.602	0.58325	D	0.2658681719189311	0.35840	0.209	0.43640	B	.	.	0.741918	0.11111	7.759	0.76712356255001657	0.11579	0.05027	0.10809	N	AEFBI	0.083367	0.16889	N	-0.960802592172277	0.09452	0.4473703	-1.03818997266714	0.08955	0.4429032	0.0895794808390717	0.16088	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.02	1.98	0.25351	0.402000	0.20690	-0.023000	0.12899	-0.231000	0.07715	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.1225:0.6571:0.0:0.2204	8.075	0.29871	702	0.57624	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	742.44	34	chr18	31531145	.	C	A	742.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.84;DP=231;ExcessHet=0;FS=1.084;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=1.12;SOR=0.935	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	6	0	1	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	556.67	26	chr18	31541297	.	G	A	556.67	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-0.963;DP=269;ExcessHet=4.1913;FS=371.42;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=2.61;ReadPosRankSum=1.51;SOR=8.977	GT:AD:DP:GQ:PL	0/1:31,27:58:99:147,0,334	0	0	4	3
chr18	31846751	31846751	T	C	exonic	TRAPPC8	.	nonsynonymous SNV	TRAPPC8:NM_014939:exon26:c.A3802G:p.I1268V	.	443	1069	9	1	0	11	0.00511866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00340190401819	0.0015	0.000798722	0.0019	9.612e-05	0.0005	0	0.0005	0.0028	0.0033	0.0018	0.0017917	277	154602	rs146392001	0.0021	0.0021	0.0021	0.0020	0.0038	0.0020	0.0020	0.0026	0.0022	0.0003	0.0015	0.0087	0	0.0005	0.0038	0.0021	0.0022	0.0015	0.0018	0.0018	0.0020	0.0017	0.0027	0.0017	0.0016	0.0024	0.0023	0.0004	0	0.0016	0.0081	0.0002	0.0006	0	0.0027	0.0028	0.0025	0.511	0.07473	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.015107	0.28339	N	0.414465	0.972522	0.25596	N	-0.69	0.01958	N	2.45	0.15028	T	-0.51	0.15986	N	0.229	0.27554	-0.9351	0.43379	T	0.012	0.04463	T	10	0.006679684	0.00151	T	0.003402	0.07633	T	0.021	0.04004	.	.	0.043077524339	0.03247	0.21161952791076083	0.21077	0.103064710941	0.11657	0.287468791008	0.08555	T	0.001708	0.09742	T	-0.662782	0.00060	T	-0.727868	0.04425	T	0.00194458371785978	0.00020	T	0.773923	0.40554	T	0.014049822	0.00079	0.02289608	0.00307	0.014049822	0.00079	0.02289608	0.00307	-2.233	0.04204	T	.	.	0.054	0.00321	B	.;.	.;.	1.112614	0.14977	11.49	0.77716899045425769	0.11992	0.63816	0.32207	D	AEFGBI	0.104378	0.20887	N	-1.04922484792238	0.07602	0.3537357	-0.835905628383524	0.13627	0.7079292	0.153119060367593	0.17473	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.34	-0.889	0.10044	0.058000	0.14178	-1.222000	0.05984	-0.123000	0.13640	0.925000	0.32113	0.000000	0.08366	0.991000	0.66497	0.0:0.6315:0.0:0.3685	10.286	0.42745	751	0.51694	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1361.44	42	chr18	31846751	.	T	C	1361.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.8;DP=334;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=0.486;SOR=0.7	GT:AD:DP:GQ:PL	0/1:75,59:134:99:1372,0,1690	6	0	1	0
chr18	31857705	31857705	G	A	exonic	TRAPPC8	.	nonsynonymous SNV	TRAPPC8:NM_014939:exon20:c.C3023T:p.T1008I	.	434	1077	11	0	0	11	0.00508083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00516198644216	0.0015	0.000798722	0.0021	9.612e-05	0.0005	0	0.0005	0.0029	0.0044	0.0027	0.0019728	305	154602	rs150390631	0.0021	0.0021	0.0021	0.0021	0.0038	0.0021	0.0020	0.0026	0.0022	0.0002	0.0015	0.0087	0	0.0005	0.0038	0.0022	0.0022	0.0024	0.0018	0.0018	0.0019	0.0017	0.0027	0.0016	0.0016	0.0024	0.0023	0.0003	0	0.0016	0.0081	0.0002	0.0006	0	0.0027	0.0028	0.0025	0.391	0.10802	T	0.405	0.15010	T	0.0	0.02946	B	0.004	0.10090	B	0.426299	0.12806	N	0.762472	0.953107	0.26416	N	0.29	0.10111	N	3.1	0.08283	T	-0.88	0.23808	N	0.061	0.07535	-0.9722	0.36734	T	0.016	0.06664	T	10	0.0041679144	0.00082	T	0.005162	0.13125	T	0.045	0.12272	.	.	0.043077524339	0.03247	0.14189204318717594	0.14112	0.131346689685	0.14815	0.347044557333	0.17485	T	0.001807	0.06949	T	-0.678504	0.00049	T	-0.750451	0.03467	T	0.00261004876392487	0.00027	T	0.519848	0.16911	T	0.021335503	0.00731	0.037047848	0.03275	0.021335503	0.00731	0.037047848	0.03275	-2.638	0.06797	T	.	.	0.073	0.04558	B	.;.	.;.	1.054891	0.14362	10.94	0.98167930735627396	0.38831	0.52125	0.29057	D	AEFDGBIJ	0.263676	0.38118	N	-0.853126868401835	0.11973	0.5808733	-0.755356609438734	0.15591	0.8207461	0.999640218319836	0.41316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.616919	0.45865	0	.	.	5.21	-1.92	0.07203	0.297000	0.18856	0.686000	0.20722	-0.116000	0.14526	0.917000	0.31872	0.287000	0.24143	0.995000	0.73285	0.2574:0.13:0.6126:0.0	10.660	0.44888	757	0.50970	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	1185.45	34	chr18	31857705	.	G	A	1185.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.654;DP=293;ExcessHet=0;FS=3.454;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=0.637;SOR=1.051	GT:AD:DP:GQ:PL	0/1:64,50:114:99:1196,0,1657	6	0	1	0
chr18	32111875	32111875	A	G	exonic	RNF138	.	nonsynonymous SNV	RNF138:NM_001191324:exon2:c.A232G:p.I78V,RNF138:NM_016271:exon3:c.A232G:p.I78V	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0444561647898	.	0.000798722	0.0007	0	0	0	0	0	0	0.0052	0.0005886	91	154602	rs200018900	0.0003	0.0003	0.0002	0.0005	0.0054	0.0003	0.0003	0.0049	0.0048	0	0	0	0	0	0	8.995e-06	0.0005	0.0054	0.0001	0.0001	1.285e-05	0.0003	0.0043	9.143e-05	7.699e-05	0.0029	0.0024	0	0	0	0	0	0	0	0	0	0.0043	1.0	0.00964	T	0.607	0.07766	T	0.0	0.02946	B	0.0	0.01387	B	0.114447	0.19274	N	0.572253	1	0.81001	D	0.895	0.22405	L	-2.26	0.87352	D	0.09	0.05917	N	0.047	0.01911	-0.6374	0.63256	T	0.450	0.78485	T	10	0.006287098	0.00142	T	0.044456	0.61497	D	0.155	0.40530	0.262	0.20631	0.253981072376	0.25009	0.47609786336065624	0.47529	0.775582379912	0.65011	0.51073807478	0.40326	T	0.012038	0.13037	T	-0.396786	0.02430	T	-0.340813	0.40252	T	0.0327266241670266	0.02425	T	0.632437	0.26482	T	0.024062779	0.01201	0.036301393	0.03051	0.024062779	0.01201	0.036301393	0.03050	-4.983	0.36655	T	.	.	0.066	0.05231	B	.;.;.;.	.;.;.;.	1.795654	0.22827	15.78	0.91709554736188648	0.21004	0.69168	0.34081	D	AEGBI	0.101630	0.20407	N	-0.168750960704115	0.34441	1.965808	0.0142275605219735	0.40373	2.408498	0.834417918388486	0.24751	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.71	4.58	0.56077	1.702000	0.37455	3.001000	0.35921	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.8166:0.0:0.1834:0.0	7.787	0.28261	834	0.38640	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	602.63	21	chr18	32111875	.	A	G	602.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.658;DP=217;ExcessHet=0;FS=5.001;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=-1.214;SOR=0.96	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,991	6	0	1	0
chr18	32268202	32268202	T	C	exonic	GAREM1	.	nonsynonymous SNV	GAREM1:NM_001242409:exon6:c.A2300G:p.Y767C,GAREM1:NM_022751:exon6:c.A2297G:p.Y766C	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0100584642603	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1419703747	6.84e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	6.574e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.006	0.61437	D	0.118	0.36233	T	1.0	0.90584	D	0.987	0.77487	D	0.017609	0.27680	N	0.379901	0.988189	0.40718	D	.	.	.	2.48	0.14657	T	-1.18	0.30140	N	0.296	0.33469	-1.0716	0.09065	T	0.038	0.16419	T	10	0.077094704	0.12125	T	0.010058	0.26146	T	0.059	0.16972	0.202	0.11659	0.043077524339	0.03247	0.32884518335898283	0.32797	0.584972676535	0.54155	0.515281200409	0.40963	T	0.013953	0.11972	T	-0.179978	0.23738	T	-0.496303	0.22730	T	0.684990108013153	0.40017	D	0.858314	0.54891	D	0.14650318	0.33535	0.120307125	0.29035	0.14650318	0.33534	0.120307125	0.29034	-3.098	0.11308	T	.	.	0.082	0.08754	B	.;.	.;.	3.070437	0.41265	21.3	0.99627329802942177	0.75837	0.92940	0.56923	D	AEBI	0.222077	0.34661	N	-0.114597253347943	0.36755	2.128963	-0.00458251794571732	0.39509	2.343546	0.0312394659058891	0.13990	0.562547	0.31514	0	0.59043	0.45803	0	0.608884	0.39905	0	0.620846	0.47308	0	.	.	5.47	3.07	0.34476	2.231000	0.42654	1.916000	0.29678	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1406:0.0:0.8594	9.766	0.39726	817	0.41665	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	941.49	77	chr18	32268202	.	T	C	941.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.707;DP=292;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-0.291;SOR=0.641	GT:AD:DP:GQ:PL	0/0:71,0:71:99:0,120,1800	6	0	1	0
chr18	32268626	32268626	A	T	exonic	GAREM1	.	nonsynonymous SNV	GAREM1:NM_001242409:exon6:c.T1876A:p.W626R,GAREM1:NM_022751:exon6:c.T1873A:p.W625R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0417029021843	.	.	2.474e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs745899962	9.577e-06	9.577e-06	8.167e-06	1.1e-05	0.0002	5.56e-06	4.35e-06	8.885e-05	7.053e-05	0	0	0	0	0	0	0	1.656e-05	0.0002	1.314e-05	1.313e-05	0	2.689e-05	0.0004	2.18e-06	8.2e-07	7.29e-05	3.029e-05	0	0	0	0	0	0	0	0	0	0.0004	0.0	0.91255	D	0.04	0.50809	D	0.976	0.77913	D	0.81	0.86255	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.35	0.16217	T	-2.69	0.57435	D	0.818	0.90025	-1.0766	0.08023	T	0.066	0.27295	T	10	0.6172426	0.67775	D	0.041703	0.60073	D	0.377	0.69527	0.269	0.21735	0.384263066157	0.38043	0.5677130302602232	0.56699	0.52537510995	0.50204	0.802261173725	0.82309	T	0.036623	0.24175	T	0.0248075	0.55028	T	0.0721575	0.75054	D	0.454251982510797	0.30953	T	0.825517	0.49863	T	0.7441525	0.80531	0.6754345	0.80942	0.7441525	0.80532	0.6754345	0.80943	-1.74	0.02367	T	.	.	0.993	0.94691	P	.;.	.;.	4.426027	0.68596	25.3	0.98669891695572742	0.44456	0.99409	0.95660	D	AEFBI	0.899035	0.84298	D	0.527271485643956	0.68707	5.254576	0.57825311310625	0.73384	5.961563	0.999998688708466	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.65145	0.50148	0	0.620846	0.47308	0	.	.	5.85	5.85	0.93663	8.591000	0.90611	11.191000	0.88665	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.800000	0.37734	1.0:0.0:0.0:0.0	15.927	0.79411	817	0.41665	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	975.44	37	chr18	32268626	.	A	T	975.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.51;DP=303;ExcessHet=0;FS=1.596;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=0.437;SOR=0.868	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,108,1620	6	0	1	0
chr18	33333375	33333375	A	T	exonic	CCDC178	.	nonsynonymous SNV	CCDC178:NM_001105528:exon10:c.T678A:p.S226R,CCDC178:NM_001308126:exon10:c.T678A:p.S226R,CCDC178:NM_001371120:exon10:c.T678A:p.S226R,CCDC178:NM_001371121:exon10:c.T678A:p.S226R,CCDC178:NM_198995:exon10:c.T678A:p.S226R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00314958351574	.	0.000599042	0.0003	0	0	0	0	0	0	0.0022	0.0002458	38	154602	rs569123408	0.0001	0.0001	7.962e-05	0.0002	0.0022	0.0001	0.0001	0.0020	0.0019	3.006e-05	0	0	0	0	0	0	0.0001	0.0022	4.601e-05	4.594e-05	1.286e-05	8.066e-05	0.0015	2.11e-05	1.527e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	1.0	0.00964	T	0.838	0.03795	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.23691	N	-1.7	0.00354	N	2.57	0.13673	T	1.33	0.00925	N	0.19	0.21056	-0.9934	0.31722	T	0.026	0.11264	T	9	0.005110532	0.00111	T	0.00315	0.06876	T	0.041	0.10877	0.203	0.11797	0.0482279557977	0.04254	0.03336477903149582	0.03284	0.0176781479552	0.01721	0.257849365473	0.04638	T	0.001082	0.00603	T	-0.590093	0.00167	T	-0.62502	0.10794	T	0.0248628490259182	0.01254	T	0.537746	0.18100	T	0.03993547	0.05608	0.07938037	0.17865	0.03993547	0.05608	0.07938037	0.17865	-2.84	0.08595	T	.	.	0.067	0.04277	B	.;.;.;.;.;.	.;.;.;.;.;.	0.156008	0.05473	1.941	0.41036066679594468	0.02934	0.00616	0.02727	N	AEFDHI	0.029060	0.02676	N	-1.41813899849376	0.02479	0.1095521	-1.24450488637235	0.05213	0.2478506	3.12045640034679E-5	0.03775	0.553676	0.25195	0	0.615948	0.52940	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.17	2.76	0.31527	0.808000	0.26813	1.354000	0.25830	-0.710000	0.03952	0.698000	0.28607	0.968000	0.29604	0.114000	0.18915	0.161:0.0:0.1679:0.6711	6.201	0.19787	782	0.47442	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	694.83	23	chr18	33333375	.	A	T	694.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.54;DP=178;ExcessHet=0;FS=1.114;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=0.955;SOR=0.941	GT:AD:DP:GQ:PL	0/0:38,0:38:81:0,81,1215	6	0	1	0
chr18	33370130	33370130	T	A	exonic	CCDC178	.	nonsynonymous SNV	CCDC178:NM_001105528:exon6:c.A268T:p.N90Y,CCDC178:NM_001308126:exon6:c.A268T:p.N90Y,CCDC178:NM_001371120:exon6:c.A268T:p.N90Y,CCDC178:NM_001371121:exon6:c.A268T:p.N90Y,CCDC178:NM_198995:exon6:c.A268T:p.N90Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.320	0.0622002548694	.	.	8.309e-06	0	0	0	0	1.51e-05	0	0	6.5e-06	1	154602	rs551693244	1.238e-05	1.3e-05	1.095e-05	1.382e-05	0.0009	7.74e-06	6.38e-06	0.0003	0.0002	0	0	0	0	0	0.0009	1.083e-05	1.665e-05	0	1.315e-05	1.313e-05	1.287e-05	1.345e-05	.	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0068	0	0	0	0.002	0.78490	D	0.01	0.92824	D	1.0	0.90584	D	0.982	0.75477	D	.	.	.	.	0.617563	0.32676	D	2.475	0.71894	M	1.65	0.60610	T	-4.23	0.76655	D	0.835	0.90025	-0.1364	0.79252	T	0.334	0.70109	T	9	0.56418526	0.64957	D	0.062	0.68578	D	0.320	0.64215	0.473	0.54859	0.626983275866	0.62394	0.41979339151742284	0.41895	0.147516946697	0.16644	0.534331738949	0.43644	T	0.119344	0.44081	T	0.096216	0.63881	D	-0.0995688	0.63432	T	0.906020343900649	0.55992	D	0.860814	0.57273	D	0.25756484	0.48802	0.38624164	0.63521	0.25756484	0.48802	0.38624164	0.63521	-4.565	0.31818	T	.	.	0.390	0.65372	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.284817	0.65301	24.8	0.92727732042820099	0.22227	0.87933	0.47648	D	AEDBIJ	0.554360	0.56523	D	0.50790745066596	0.67557	5.097464	0.459164747593341	0.65309	4.807338	0.942962731689426	0.27546	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	5.5	0.81386	4.122000	0.57661	7.847000	0.70787	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.835000	0.39381	0.0:0.0:0.0:1.0	12.002	0.52524	766	0.49742	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.017241	0.000000	0.000000	0.07143	768.63	36	chr18	33370130	.	T	A	768.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.932;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=3.17;SOR=0.633	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1080	6	0	1	0
chr18	33852850	33852850	G	T	exonic	NOL4	.	nonsynonymous SNV	NOL4:NM_001353236:exon6:c.C862A:p.Q288K,NOL4:NM_001198549:exon7:c.C1054A:p.Q352K,NOL4:NM_001198548:exon9:c.C1603A:p.Q535K,NOL4:NM_001198546:exon10:c.C1717A:p.Q573K,NOL4:NM_001353234:exon10:c.C1495A:p.Q499K,NOL4:NM_001384470:exon10:c.C1375A:p.Q459K,NOL4:NM_001198547:exon11:c.C1687A:p.Q563K,NOL4:NM_001282527:exon11:c.C1252A:p.Q418K,NOL4:NM_001353237:exon11:c.C1252A:p.Q418K,NOL4:NM_001384468:exon11:c.C1786A:p.Q596K,NOL4:NM_001384469:exon11:c.C1780A:p.Q594K,NOL4:NM_001384473:exon11:c.C964A:p.Q322K,NOL4:NM_003787:exon11:c.C1909A:p.Q637K,NOL4:NM_001353233:exon12:c.C1156A:p.Q386K,NOL4:NM_001353235:exon12:c.C1444A:p.Q482K,NOL4:NM_001384467:exon12:c.C1978A:p.Q660K,NOL4:NM_001384471:exon12:c.C1252A:p.Q418K,NOL4:NM_001384472:exon13:c.C1054A:p.Q352K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	0.0180109713626	.	.	8.506e-06	0	0	0	0	0	0	6.867e-05	6.5e-06	1	154602	rs762249074	1.096e-05	1.163e-05	9.543e-06	1.239e-05	0.0002	6.49e-06	5.25e-06	5.76e-06	4.55e-06	0	0	0	0	0	0.0002	1.08e-05	1.659e-05	2.323e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.008	0.74150	D	0.993	0.65571	D	0.985	0.76457	D	0.000002	0.62929	D	0.000000	0.999995	0.81001	D	1.385	0.34509	L	.	.	.	-2.84	0.65397	D	0.736	0.76946	-0.3731	0.72866	T	0.353	0.71611	T	9	0.6057196	0.67163	D	0.018011	0.39926	T	0.397	0.71163	0.343	0.33626	0.340919117937	0.33698	0.9511095914621569	0.95094	1.28839598421	0.82723	0.849569559097	0.89550	D	0.531546	0.83798	D	0.300557	0.83013	D	0.294583	0.87942	D	0.927145421504974	0.58983	D	0.90371	0.66210	D	0.69354355	0.77704	0.6770729	0.81035	0.69354355	0.77705	0.6770729	0.81036	-13.227	0.90276	D	.	.	0.578	0.74177	P	.;.;.;.;.	.;.;.;.;.	4.856659	0.79435	27.1	0.98917907594193155	0.48509	0.99152	0.91994	D	AEFGI	0.954409	0.97148	D	0.729768789488497	0.81586	7.55656	0.798397835312555	0.89681	10.077	0.999999785325227	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.96	5.96	0.96695	9.477000	0.96864	11.844000	0.97886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	20.408	0.99014	845	0.36510	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1113.45	35	chr18	33852850	.	G	T	1113.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.053;DP=273;ExcessHet=0;FS=1.762;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-1.852;SOR=0.478	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1368	6	0	1	0
chr18	35254064	35254064	G	T	exonic	ZSCAN30	.	nonsynonymous SNV	ZSCAN30:NM_001288711:exon2:c.C310A:p.Q104K,ZSCAN30:NM_001112734:exon4:c.C871A:p.Q291K,ZSCAN30:NM_001166012:exon5:c.C871A:p.Q291K	.	423	1084	14	1	0	16	0.00732601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.00445161109776	0.0007	0.000399361	0.0010	0.0004	0.0010	0.0001	0	0.0008	0.0044	0.0027	0.0007633	118	154602	rs200557192	0.0006	0.0006	0.0005	0.0006	0.0033	0.0005	0.0005	0.0022	0.0020	0.0003	0.0011	0.0112	5.038e-05	0	0.0033	0.0001	0.0013	0.0024	0.0006	0.0006	0.0005	0.0006	0.0012	0.0005	0.0004	0.0008	0.0007	0.0003	0	0.0012	0.0101	0	0	0.0034	0.0001	0.0014	0.0010	0.22	0.18956	T	0.001	0.83351	D	0.007	0.14184	B	0.004	0.10090	B	0.031148	0.01731	N	2.579110	1	0.08975	N	0.345	0.11182	N	3.22	0.07024	T	-0.5	0.15782	N	0.038	0.03841	-0.9500	0.40972	T	0.018	0.07234	T	10	0.004678905	0.00098	T	0.004452	0.10906	T	0.087	0.25287	.	.	0.192905019026	0.18896	0.09423561573448652	0.09355	0.0405796550883	0.04348	0.22519916296	0.01632	T	0.00645	0.05881	T	-0.624422	0.00103	T	-0.674019	0.07353	T	0.00146768635585137	0.00015	T	0.754025	0.65732	T	0.04908599	0.08660	0.047715608	0.06934	0.04908599	0.08659	0.047715608	0.06933	-6.294	0.48674	T	.	.	0.084	0.13597	B	.;.;.;.	.;.;.;.	1.293665	0.16946	12.86	0.83592685452024917	0.14810	0.15546	0.18964	N	AEFBHCI	0.112403	0.22218	N	-0.972038934576846	0.09205	0.4346647	-1.0216487632626	0.09310	0.4624355	0.0870500447073629	0.16024	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.636168	0.56350	0	.	.	4.16	-1.74	0.07622	2.120000	0.41591	1.209000	0.24893	0.665000	0.62972	0.086000	0.22486	0.001000	0.17328	0.798000	0.37648	0.0:0.2641:0.3305:0.4054	7.975	0.29308	849	0.35778	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.07143	1042.49	101	chr18	35254064	.	G	T	1042.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.55;DP=283;ExcessHet=0;FS=2.594;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=2.01;SOR=0.974	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	6	0	1	0
chr18	36786927	36786927	G	T	exonic	TPGS2	.	nonsynonymous SNV	TPGS2:NM_001271951:exon7:c.C810A:p.S270R	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00217396634592	.	0.000199681	0.0013	0.0026	0	0	0	0.0011	0	0	5.82e-05	9	154602	rs191631601	0.0003	0.0002	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	4.34e-05	0	0	0	0	0	0.0003	0.0004	0	0.0002	0.0002	0.0002	6.715e-05	0.0003	0.0001	8.713e-05	0.0002	0.0002	2.406e-05	0	6.533e-05	0	0	0	0	0.0003	0.0005	0	.	.	.	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.71	0.51228	T	.	.	.	0.147	0.14905	.	.	.	.	.	.	.	0.007430166	0.00169	T	0.002174	0.04071	T	.	.	.	.	0.56731557318	0.56396	0.08005205616279544	0.07940	.	.	0.295961499214	0.09801	T	.	.	.	-0.610696	0.00125	T	-0.654614	0.08633	T	.	.	.	0.354465	0.08000	T	.	.	.	.	.	.	.	.	-4.086	0.25083	T	.	.	0.212	0.44029	B	.	.	-0.608500	0.01548	0.101	0.59304637484720191	0.06193	0.02298	0.06609	N	ALL	0.032734	0.03752	N	.	.	.	.	.	.	0.99999998576057	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	1.98	-2.04	0.06937	-0.576000	0.05947	-1.180000	0.06099	-0.354000	0.05547	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.4883:0.0:0.5117:0.0	5.891	0.18159	887	0.27948	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1099.44	35	chr18	36786927	.	G	T	1099.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.023;DP=284;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.17;SOR=0.783	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1358	6	0	1	0
chr18	37067196	37067196	T	C	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.T559C:p.C187R,KIAA1328:NM_001353919:exon6:c.T559C:p.C187R,KIAA1328:NM_001353918:exon7:c.T871C:p.C291R,KIAA1328:NM_020776:exon7:c.T883C:p.C295R,KIAA1328:NM_001353920:exon8:c.T31C:p.C11R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0248307524252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.317	0.70582	T	0.002	0.54977	B	0.003	0.49647	B	0.066107	0.21833	N	0.492799	0.999991	0.18198	N	1.895	0.50365	L	0.96	0.42888	T	-2.89	0.60665	D	0.217	0.34228	-1.0429	0.16443	T	0.086	0.33550	T	10	0.095427215	0.17043	T	0.024831	0.47815	T	0.028	0.06331	0.277	0.23004	0.151104730317	0.14643	0.12560051005708286	0.12486	0.260958981567	0.28653	0.343422293663	0.16949	T	0.074489	0.34951	T	-0.234135	0.16106	T	-0.574095	0.15076	T	0.15222541987896	0.17279	T	0.674733	0.29555	T	0.25123864	0.48131	0.18567732	0.41694	0.25123864	0.48131	0.18567732	0.41693	-2.248	0.04280	T	.	.	0.146	0.40392	B	.;.;.;.;.	.;.;.;.;.	1.448914	0.18694	13.88	0.56740053966158088	0.05617	0.66923	0.33248	D	AEFGI	0.168829	0.29561	N	-0.727595758614455	0.15249	0.7668366	-0.728904545204197	0.16243	0.8583232	4.57563750617174E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	0.957	0.18736	1.298000	0.33017	0.476000	0.18759	-0.169000	0.11342	0.930000	0.32276	0.856000	0.27440	0.032000	0.13371	0.1242:0.1328:0.13:0.613	2.399	0.04129	738	0.53389	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	66.44	35	chr18	37067196	.	T	C	66.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.222;DP=563;ExcessHet=0;FS=262.132;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.24;ReadPosRankSum=1.34;SOR=8.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1166:.	6	0	1	0
chr18	37067197	37067197	G	A	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.G560A:p.C187Y,KIAA1328:NM_001353919:exon6:c.G560A:p.C187Y,KIAA1328:NM_001353918:exon7:c.G872A:p.C291Y,KIAA1328:NM_020776:exon7:c.G884A:p.C295Y,KIAA1328:NM_001353920:exon8:c.G32A:p.C11Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.00495282325438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.981	0.02004	T	1.0	0.03324	T	0.001	0.12183	B	0.002	0.10090	B	0.066107	0.21833	N	0.492799	1	0.08975	N	0.995	0.25082	L	1.0	0.41392	T	-2.1	0.47852	N	0.081	0.14054	-1.0339	0.19205	T	0.038	0.16376	T	10	0.04781583	0.04150	T	0.004953	0.12473	T	0.114	0.32008	0.24	0.17218	0.0884992946249	0.08302	0.12486170782916084	0.12412	0.0693334402013	0.07761	0.349928975105	0.17912	T	0.024333	0.18409	T	-0.281787	0.10479	T	-0.642544	0.09485	T	0.114724479615688	0.13906	T	0.662434	0.28129	T	0.03804784	0.04996	0.067671165	0.14031	0.03804784	0.04996	0.067671165	0.14031	-3.62	0.18147	T	.	.	0.075	0.13174	B	.;.;.;.;.	.;.;.;.;.	0.712451	0.10815	7.495	0.20846672331132926	0.00768	0.17205	0.19735	N	AEFGI	0.089171	0.18075	N	-0.990119155275313	0.08813	0.4147193	-0.924159477584458	0.11525	0.5876435	4.19662457214258E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	1.01	0.19044	0.347000	0.19760	1.733000	0.28342	0.676000	0.76740	0.648000	0.28154	0.820000	0.27118	0.027000	0.12703	0.2504:0.2192:0.3296:0.2008	0.508	0.00551	738	0.53389	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	133.24	35	chr18	37067197	.	G	A	133.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-7.087;DP=785;ExcessHet=0.3476;FS=129.294;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.25;ReadPosRankSum=0.634;SOR=9.17	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1166:.	5	0	2	0
chr18	41993282	41993282	T	C	exonic	PIK3C3	.	nonsynonymous SNV	PIK3C3:NM_001308020:exon6:c.T538C:p.S180P,PIK3C3:NM_002647:exon7:c.T727C:p.S243P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0246061960468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.873e-07	2.052e-06	0	1.381e-06	9.036e-07	0	0	.	.	0	0	0	0	0	0	9.036e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.14111	T	0.511	0.10785	T	0.0	0.07471	B	0.001	0.12133	B	0.001657	0.38382	N	0.265792	0.973432	0.40065	D	0.165	0.08973	N	-0.09	0.64086	T	-0.96	0.31375	N	0.574	0.61680	-0.9725	0.36670	T	0.136	0.45126	T	9	0.21460304	0.37988	T	0.024606	0.47597	T	0.232	0.53354	0.295	0.25881	0.571483254199	0.56815	0.3370488226963614	0.33617	0.251642933552	0.27744	0.639114618301	0.58438	T	0.211861	0.57274	T	0.0948883	0.63736	D	-0.101476	0.63283	T	0.539169669151306	0.34073	D	0.927207	0.73169	D	0.4938826	0.66733	0.31778914	0.57751	0.4938826	0.66734	0.31778914	0.57751	-5.96	0.45943	T	.	.	0.082	0.10256	B	.;.;.	.;.;.	3.291992	0.45147	22.1	0.98690183053427893	0.44752	0.91271	0.53198	D	AEFDGBIJ	0.520752	0.54548	D	-0.174104883671334	0.34216	1.950297	0.0567873101636437	0.42402	2.563972	0.99999347787898	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.67	5.67	0.87673	2.458000	0.44671	6.153000	0.54225	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:0.0:0.0:1.0	16.215	0.82026	910	0.22284	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr18	41993282	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1215	6	1	0	0
chr18	46522163	46522163	G	A	exonic	LOXHD1	.	nonsynonymous SNV	LOXHD1:NM_001308013:exon12:c.C1402T:p.R468C,LOXHD1:NM_001145472:exon14:c.C1690T:p.R564C,LOXHD1:NM_001384474:exon32:c.C5023T:p.R1675C,LOXHD1:NM_144612:exon32:c.C5023T:p.R1675C	Deafness, autosomal recessive 77, Autosomal recessive	0	1503	17	2	0	21	0.00693756	.	.	YES	176696	not_provided|not_specified|LOXHD1-related_disorder|Autosomal_recessive_nonsyndromic_hearing_loss_77	MedGen:C3661900|MedGen:CN169374|.|MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.069	0.0568717274974	0.0009	0.00139776	0.0014	0	0.0050	0	0	0.0022	0.008	0.0011	0.0004075	63	154602	rs201060702	0.0009	0.0009	0.0009	0.0010	0.0133	0.0009	0.0009	0.0109	0.0100	0.0002	0.0039	0.0035	5.596e-05	2.03e-05	0.0133	0.0007	0.0018	0.0010	0.0015	0.0015	0.0013	0.0017	0.0067	0.0014	0.0013	0.0057	0.0053	0.0003	0	0.0067	0.0049	0.0006	0	0.0102	0.0011	0.0066	0.0008	0.096	0.31088	T	0.057	0.46406	T	0.035	0.20614	B	0.009	0.14300	B	0.020273	0.27075	N	0.406010	0.68734	0.46125	D	.	.	.	-1.28	0.79376	T	-0.39	0.13611	N	0.14	0.19861	-0.6381	0.63226	T	0.304	0.67510	T	10	0.00919342	0.00208	T	0.056872	0.66763	D	0.069	0.20116	.	.	0.313818047136	0.31001	0.534502114996786	0.53375	.	.	0.270033061504	0.06145	T	0.056588	0.30328	T	-0.459099	0.00996	T	-0.432111	0.29695	T	0.0149584551504563	0.00320	T	0.826617	0.49005	T	0.08115871	0.18635	0.03569047	0.02870	0.07750342	0.17595	0.048399005	0.07179	-7.248	0.56693	T	.	.	0.062	0.01692	B	.;.;.;.;.;.	.;.;.;.;.;.	2.516742	0.32515	19.06	0.89171308905943658	0.18570	0.55066	0.29771	D	AEFDI	0.183585	0.31092	N	-0.476686026050953	0.22846	1.22277	-0.405899172129306	0.24824	1.361543	0.00802369938460465	0.11595	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	2.65	0.30588	1.046000	0.29964	3.493000	0.38728	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.078000	0.17132	0.4715:0.223:0.3055:0.0	4.792	0.12623	934	0.15400	PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain;.;.;.;PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009569	0.005319	0.000000	0.008696	0.000000	0.000000	0.023256	0.000000	0.07143	1025.44	69	chr18	46522163	.	G	A	1025.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.18;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=0.043;SOR=0.587	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1146	6	0	1	0
chr18	46946248	46946248	C	T	exonic	KATNAL2	.	nonsynonymous SNV	KATNAL2:NM_001353899:exon2:c.C32T:p.P11L,KATNAL2:NM_001353900:exon2:c.C32T:p.P11L,KATNAL2:NM_001353902:exon2:c.C32T:p.P11L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.047e-06	3.42e-06	0	2.188e-06	1.206e-06	0	0	.	.	0	0	0	0	0	0	1.206e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	31.15	2	chr18	46946248	.	C	T	31.15	.	AC=1;AF=0.167;AN=6;BaseQRankSum=0;DP=10;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=60;MQRankSum=0;QD=7.79;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:37:37,0,37	2	0	1	4
chr18	47033749	47033749	G	A	exonic	ELOA2	.	nonsynonymous SNV	ELOA2:NM_016427:exon1:c.C1516T:p.R506C	.	408	1106	8	0	0	8	0.0036036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00139184920862	.	.	1.658e-05	0	0	0	0	3.017e-05	0	0	1.29e-05	2	154602	rs533499836	6.157e-06	6.156e-06	2.722e-06	9.626e-06	0.0007	2.9e-06	2.1e-06	0.0002	0.0001	0	0	0	0	0	0.0007	4.496e-06	0	0	1.314e-05	1.313e-05	2.568e-05	0	6.541e-05	2.18e-06	8.2e-07	.	.	0	0	6.541e-05	0	0	0	0	1.47e-05	0	0	0.046	0.40573	D	0.182	0.37310	T	0.062	0.23277	B	0.015	0.17295	B	0.726876	0.06346	N	1.160920	1	0.18198	N	1.445	0.36358	L	2.86	0.10482	T	-4.47	0.77881	D	0.119	0.17140	-0.9862	0.33542	T	0.017	0.07092	T	10	0.06668037	0.09181	T	0.001392	0.02037	T	0.021	0.04004	0.302	0.27003	0.0297737177859	0.01360	0.4679941604203779	0.46718	0.0512016197912	0.05634	0.329503953457	0.14859	T	0.117283	0.43725	T	-0.291082	0.09527	T	-0.640409	0.09639	T	0.104694277048111	0.12865	T	0.738226	0.43180	T	0.08924891	0.20846	0.14267254	0.33935	0.08924891	0.20845	0.14267254	0.33934	-6.769	0.52328	T	.	.	0.090	0.16582	B	.;.	.;.	0.196185	0.05818	2.258	0.74170773348319163	0.10596	0.00848	0.03390	N	AEFDBI	0.042241	0.06528	N	-1.871286043764	0.00393	0.01689798	-1.99724728819432	0.00310	0.01370406	0.196827853792047	0.18070	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.1	-4.2	0.03562	-0.709000	0.05132	-2.121000	0.04181	-0.864000	0.02607	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1104:0.2748:0.3409:0.2739	2.011	0.03276	771	0.49057	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	879.83	82	chr18	47033749	.	G	A	879.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.262;DP=256;ExcessHet=0;FS=0.813;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=1.59;SOR=0.793	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1208	6	0	1	0
chr18	47035110	47035110	G	A	exonic	ELOA2	.	nonsynonymous SNV	ELOA2:NM_016427:exon1:c.C155T:p.T52M	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.0031752199098	0.0016	0.000998403	0.0023	0.0001	0.0005	0	0.0068	0.0033	0.0012	0.0002	0.0019081	295	154602	rs141717482	0.0029	0.0029	0.0030	0.0028	0.0033	0.0028	0.0028	0.0032	0.0032	0.0004	0.0004	0	0	0.0065	0.0002	0.0033	0.0022	0.0005	0.0021	0.0021	0.0020	0.0022	0.0032	0.0019	0.0018	0.0029	0.0027	0.0005	0	0.0003	0	0	0.0065	0	0.0032	0.0028	0.0008	0.027	0.46513	D	0.092	0.57104	T	1.0	0.90584	D	0.954	0.69447	D	0.000399	0.44960	U	0.000000	0.999996	0.08975	N	2.315	0.66250	M	2.66	0.12575	T	-4.17	0.75456	D	0.241	0.32370	-1.0830	0.06776	T	0.061	0.25599	T	10	0.016561985	0.00350	T	0.003175	0.06936	T	0.052	0.14661	.	.	0.239305524855	0.23518	0.40881804230257973	0.40797	0.268677020668	0.29385	0.357514500618	0.19023	T	0.186647	0.54000	T	-0.543106	0.00321	T	-0.555332	0.16818	T	0.0735073023983241	0.09134	T	0.913509	0.72903	D	0.06575404	0.14082	0.11764203	0.28399	0.06575404	0.14081	0.11764203	0.28398	-10.173	0.74941	D	.	.	0.190	0.41557	B	.;.	.;.	2.385425	0.30625	18.49	0.99441100318857867	0.64770	0.01502	0.04975	N	AEFBI	0.024523	0.01533	N	-0.195463903290164	0.33322	1.889218	-0.53521202497167	0.21199	1.145707	3.26594472682498E-4	0.06540	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	2.56	0.181	0.14356	1.060000	0.30139	-0.154000	0.11389	0.570000	0.28895	0.033000	0.20612	0.000000	0.08366	0.002000	0.04165	0.5108:0.0:0.4892:0.0	4.444	0.11012	771	0.49057	Transcription factor IIS, N-terminal|Transcription factor IIS, N-terminal|Transcription elongation factor, TFIIS/CRSP70, N-terminal, sub-type;Transcription factor IIS, N-terminal|Transcription factor IIS, N-terminal|Transcription elongation factor, TFIIS/CRSP70, N-terminal, sub-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001157	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	804.27	18	chr18	47035110	.	G	A	804.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.219;DP=218;ExcessHet=0;FS=1.035;MLEAC=1;MLEAF=0.083;MQ=49.7;MQRankSum=5.01;QD=13.4;ReadPosRankSum=-0.6;SOR=0.502	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	5	0	1	1
chr18	49902703	49902703	C	T	exonic	MYO5B	.	nonsynonymous SNV	MYO5B:NM_001080467:exon21:c.G2702A:p.R901Q	Microvillus inclusion disease, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	879326	Inborn_genetic_diseases|MYO5B-related_disorder|not_provided|Congenital_microvillous_atrophy	MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900|MONDO:MONDO:0009635,MedGen:C0341306,OMIM:251850,Orphanet:2290	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.075	0.0181130439631	0.0002	0.00139776	0.0009	0	0.0002	0	0	0.0001	0.0011	0.0061	0.0008085	125	154602	rs199782770	0.0005	0.0005	0.0003	0.0007	0.0056	0.0004	0.0004	0.0052	0.0050	0	0	0	2.519e-05	9.742e-05	0.0005	0.0002	0.0004	0.0056	0.0002	0.0002	0.0001	0.0003	0.0041	0.0001	0.0001	0.0027	0.0023	4.81e-05	0	0	0	0	9.411e-05	0	8.821e-05	0	0.0041	0.152	0.24468	T	0.1	0.38742	T	0.051	0.22415	B	0.061	0.26820	B	0.091391	0.20328	N	0.483097	0.873627	0.35611	D	1.78	0.46185	L	1.45	0.32482	T	-2.15	0.48687	N	0.084	0.06059	-1.0400	0.17313	T	0.078	0.31012	T	10	0.00918448	0.00207	T	0.018113	0.40062	T	0.075	0.21907	.	.	0.252162846088	0.24830	0.15015893288584448	0.14937	0.176405578011	0.19857	0.228121072054	0.01831	T	0.096501	0.39838	T	-0.586602	0.00176	T	-0.613747	0.11682	T	0.690129339694977	0.40254	D	0.672833	0.32195	T	0.030323487	0.02677	0.09859294	0.23511	0.03871455	0.05211	0.09442644	0.22350	-5.012	0.36970	T	0.1967918698673201	0.26005	0.069	0.02960	B	.;.	.;.	1.155953	0.15446	11.85	0.95596854700337464	0.27326	0.11172	0.16456	N	AEFDBI	0.129138	0.24719	N	-1.29229384194057	0.03767	0.1688757	-1.40309239081237	0.03221	0.1498007	0.25322388405615	0.18702	0.713056	0.82018	0	0.627178	0.54094	0	0.608524	0.38960	0	0.564101	0.26826	0	.	.	5.63	-6.62	0.01646	0.021000	0.13381	-1.276000	0.05839	-0.834000	0.02848	0.002000	0.15269	0.000000	0.08366	0.034000	0.13613	0.0:0.8264:0.0:0.1736	19.987	0.97354	926	0.17793	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site;IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	2135.44	40	chr18	49902703	.	C	T	2135.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.396;DP=372;ExcessHet=0;FS=4.597;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=1.51;SOR=0.952	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1285	6	0	1	0
chr18	49906490	49906490	C	G	exonic	MYO5B	.	nonsynonymous SNV	MYO5B:NM_001080467:exon19:c.G2343C:p.K781N	Microvillus inclusion disease, Autosomal recessive	0	1493	28	1	0	30	0.00994695	.	.	.	715996	not_provided|Congenital_microvillous_atrophy|MYO5B-related_disorder|not_specified	MedGen:C3661900|MONDO:MONDO:0009635,MedGen:C0341306,OMIM:251850,Orphanet:2290|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.313	0.0525798051025	0.0016	0.00199681	0.0025	0.0005	0.0024	0	0.0003	0.0033	0.0067	0.0028	0.0024256	375	154602	rs61737448	0.0022	0.0022	0.0021	0.0023	0.0206	0.0021	0.0021	0.0176	0.0165	0.0014	0.0036	0.0272	0	0.0001	0.0206	0.0014	0.0050	0.0031	0.0020	0.0020	0.0020	0.0019	0.0028	0.0018	0.0017	0.0021	0.0019	0.0004	0	0.0028	0.0222	0	0.0002	0.0136	0.0019	0.0085	0.0027	0.002	0.72154	D	0.018	0.59732	D	0.002	0.09854	B	0.021	0.19346	B	0.114863	0.19258	N	0.557292	0.963049	0.26041	N	2.095	0.58118	M	-3.68	0.95282	D	-2.12	0.48184	N	0.512	0.54322	0.358	0.88460	D	0.733	0.90873	D	10	0.008488208	0.00192	T	0.05258	0.65129	D	0.313	0.63482	0.744	0.87570	0.854352048779	0.85295	0.5485949372223983	0.54785	0.277704376549	0.30248	0.389565467834	0.23609	T	0.147108	0.48503	T	-0.286034	0.10038	T	-0.187323	0.55841	T	0.0109958148807864	0.00158	T	0.953005	0.82069	D	0.27600676	0.50663	0.22935852	0.48005	0.27600676	0.50663	0.22935852	0.48004	-9.57	0.71294	D	0.1995306644029128	0.26456	0.403	0.59755	A	.	.	2.772506	0.36392	20.2	0.99594834571776047	0.73807	0.23225	0.22006	N	AEFBI	0.151852	0.27642	N	-0.44947611632423	0.23757	1.278057	-0.410507502553218	0.24689	1.353386	0.00767721798434629	0.11520	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.42	3.04	0.34171	0.479000	0.21938	0.072000	0.14274	0.599000	0.40250	0.001000	0.13787	0.001000	0.17328	0.305000	0.24618	0.0:0.7006:0.0:0.2994	9.320	0.37124	933	0.16026	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.017137	0.025253	0.019022	0.032164	0.000000	0.008621	0.009146	0.007576	0.07143	454.46	69	chr18	49906490	.	C	G	454.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.505;DP=251;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.59;ReadPosRankSum=0.309;SOR=0.794	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr18	50251764	50251764	C	T	exonic	CFAP53	.	nonsynonymous SNV	CFAP53:NM_145020:exon4:c.G494A:p.R165H	Heterotaxy, visceral, 6, autosomal recessive, Autosomal recessive	10	1505	6	1	0	8	0.00265076	.	.	.	532304	not_provided|Heterotaxy,_visceral,_6,_autosomal|CFAP53-related_disorder	MedGen:C3661900|MONDO:MONDO:0013887,MedGen:C3553676,OMIM:614779,Orphanet:450|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.172	0.0213929974462	0.0022	0.000798722	0.0024	0.0001	0.0009	0.0003	0.0020	0.0034	0.0033	0.0022	0.0023027	356	154602	rs138848935	0.0034	0.0034	0.0035	0.0033	0.0036	0.0033	0.0033	0.0033	0.0033	0.0005	0.0011	0.0170	0.0003	0.0011	0.0036	0.0034	0.0061	0.0024	0.0021	0.0021	0.0022	0.0020	0.0028	0.0019	0.0018	0.0025	0.0024	0.0004	0	0.0009	0.0199	0	0.0010	0	0.0028	0.0009	0.0017	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	.	.	.	2.0	0.21473	T	-3.76	0.71276	D	0.67	0.67822	-0.9586	0.39442	T	0.138	0.45508	T	10	0.006061405	0.00136	T	0.021393	0.44151	T	0.172	0.43662	.	.	0.422040124859	0.41822	0.2729855434709832	0.27211	0.417745085427	0.42384	0.480702579021	0.36153	T	0.127136	0.45396	T	-0.23062	0.16567	T	-0.107097	0.62841	T	0.0315478441424417	0.02234	T	0.740126	0.35895	T	0.64005506	0.74834	0.58659947	0.76023	0.67406607	0.76652	0.57435787	0.75345	-9.088	0.68261	D	0.7115408867780539	0.79183	0.130	0.27851	B	.	.	4.562850	0.71921	25.7	0.99947543505911152	0.99913	0.91836	0.54368	D	AEFBI	0.551048	0.56327	D	0.701475539506123	0.79728	7.139553	0.670113134032248	0.80114	7.227928	0.999996717444784	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.32	5.32	0.75377	3.868000	0.55768	4.017000	0.41215	0.599000	0.40250	0.997000	0.40164	0.999000	0.35428	0.975000	0.56047	0.0:1.0:0.0:0.0	16.508	0.84124	896	0.25515	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.002717	0.008772	0.000000	0.000000	0.003049	0.000000	0.07143	1092.63	33	chr18	50251764	.	C	T	1092.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.313;DP=235;ExcessHet=0;FS=0.923;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=0.54;SOR=0.561	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1448	6	0	1	0
chr18	51177111	51177111	A	G	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.T1220C:p.F407S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.693	0.102199489435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.001	0.83351	D	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.82	0.82106	M	1.06	0.39781	T	-7.43	0.94843	D	0.915	0.91736	-0.5608	0.66373	T	0.260	0.63055	T	10	0.8575133	0.84955	D	0.102199	0.77552	D	0.693	0.88867	0.523	0.62668	0.871121440729	0.86986	.	.	2.08113370078	0.94615	0.84824347496	0.89348	D	0.486903	0.81319	T	0.283754	0.81634	D	0.169817	0.81398	D	0.993432641029358	0.84232	D	0.955504	0.83071	D	0.7668921	0.81862	0.8345447	0.90481	0.7668921	0.81863	0.8345447	0.90482	-10.837	0.78756	D	.	.	0.997	0.96466	P	.;.	.;.	5.541891	0.91973	32	0.99862355508127409	0.94093	0.99359	0.94992	D	AEFBI	0.905263	0.85658	D	0.874282393817284	0.90444	10.40677	0.871452856671372	0.94204	12.58209	0.999999999990326	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	9.325000	0.96006	9.407000	0.80679	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.443	0.74935	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	337.53	34	chr18	51177111	.	A	G	337.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.185;DP=327;ExcessHet=0;FS=63.529;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.87;SOR=6.09	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,111,1175:.	6	0	1	0
chr18	51177112	51177112	A	G	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.T1219C:p.F407L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.0253137631567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.113e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.075	0.47097	T	0.997	0.70673	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.82	0.82106	M	1.12	0.38718	T	-5.52	0.85994	D	0.706	0.72477	-0.6365	0.63295	T	0.251	0.62073	T	10	0.7858712	0.78241	D	0.025314	0.48293	D	0.487	0.77528	0.449	0.50957	0.730059074749	0.72765	.	.	1.28565786633	0.82653	0.864578425884	0.91784	D	0.402891	0.75979	T	0.233233	0.77025	D	0.0972472	0.76725	D	0.982453107833862	0.74501	D	0.911209	0.68535	D	0.6268725	0.74131	0.5983521	0.76673	0.6268725	0.74132	0.5983521	0.76674	-9.398	0.70223	D	.	.	0.999	0.98504	P	.;.	.;.	5.110104	0.85422	28.6	0.99866937388056276	0.94457	0.99359	0.94992	D	AEFBI	0.900400	0.84589	D	0.849071139545032	0.89055	9.816957	0.851133728241547	0.93083	11.813	0.999999999990326	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	9.325000	0.96006	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.443	0.74935	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	799.05	77	chr18	51177112	.	A	G	799.05	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-3.131;DP=548;ExcessHet=1.1394;FS=101.464;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=1.93;ReadPosRankSum=1.44;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,27:195:99:0|1:51177112_A_G:188,0,6787:51177112	4	0	3	0
chr18	51177115	51177115	C	T	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G1216A:p.D406N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.0371233782211	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1170539047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.81	0.81869	M	0.8	0.48769	T	-4.82	0.80851	D	0.665	0.72299	-0.4713	0.69679	T	0.319	0.68874	T	10	0.70792806	0.72858	D	0.037123	0.57424	D	0.315	0.63694	0.411	0.44723	0.803544974683	0.80170	.	.	1.72979365526	0.90724	0.81810438633	0.84738	D	0.45612	0.79501	T	-0.0908589	0.37934	T	-0.368289	0.37088	T	0.994576918359117	0.85946	D	0.979702	0.93682	D	0.72907937	0.79671	0.6503769	0.79545	0.72907937	0.79673	0.6503769	0.79545	-7.331	0.56415	T	.	.	0.945	0.86363	P	.;.	.;.	5.416801	0.90641	31	0.99916025942671016	0.98379	0.99021	0.90073	D	AEFBI	0.899214	0.84335	D	0.898058628751112	0.91662	10.99954	0.896553768688559	0.95422	13.60534	0.999999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	7.905000	0.86479	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.210	0.93737	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	777.05	77	chr18	51177115	.	C	T	777.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.434;DP=555;ExcessHet=1.383;FS=99.841;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.85;ReadPosRankSum=1.46;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,27:200:99:0|1:51177112_A_G:173,0,6997:51177112	3	0	3	1
chr18	51177121	51177121	C	G	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G1210C:p.E404Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0103414181764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.048	0.48594	D	0.993	0.65571	D	0.813	0.58748	P	0.000001	0.62929	D	0.098325	0.999571	0.47641	D	1.975	0.53506	M	0.98	0.42122	T	-2.3	0.51157	N	0.291	0.32921	-0.9046	0.47493	T	0.177	0.52225	T	10	0.27463642	0.45018	T	0.010341	0.26763	T	0.169	0.43123	0.401	0.43081	0.529347144327	0.52582	.	.	1.3103030877	0.83193	0.667679488659	0.62507	T	0.13375	0.46460	T	-0.0795134	0.39793	T	-0.351992	0.38975	T	0.85820886835662	0.50888	D	0.961904	0.85651	D	0.2823534	0.51273	0.23955542	0.49307	0.2823534	0.51273	0.23955542	0.49306	-12.645	0.87848	D	.	.	0.460	0.62767	A	.;.	.;.	5.061369	0.84364	28.3	0.99623389986515531	0.75594	0.97755	0.76898	D	AEFBI	0.698287	0.65601	D	0.643224233656525	0.75929	6.394	0.693241619276502	0.81863	7.62779	0.999999997071113	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	4.960000	0.63380	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.210	0.93737	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	461.34	43	chr18	51177121	.	C	G	461.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-4.951;DP=518;ExcessHet=0.3476;FS=149.541;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.32;ReadPosRankSum=2.31;SOR=7.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,26:200:99:0|1:51177112_A_G:154,0,6970:51177112	5	0	2	0
chr18	53305666	53305666	G	A	exonic	DCC	.	nonsynonymous SNV	DCC:NM_005215:exon13:c.G2000A:p.R667H	Colorectal cancer, somatic;Esophageal carcinoma, somatic;Mirror movements 1, Autosomal dominant	4	1483	32	3	0	38	0.0126498	.	.	.	185696	not_provided|Mirror_movements_1	MedGen:C3661900|MONDO:MONDO:0008002,MedGen:C1834870,OMIM:157600,Orphanet:238722	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.421	0.0277147776191	.	0.00199681	0.0016	9.623e-05	0.0002	0	0.0002	0.0004	0.0022	0.0099	0.0014295	221	154602	rs200099519	0.0008	0.0008	0.0006	0.0011	0.0099	0.0008	0.0008	0.0080	0.0078	5.975e-05	0.0004	0.0002	2.52e-05	0	0.0099	0.0003	0.0012	0.0085	0.0005	0.0005	0.0005	0.0006	0.0077	0.0004	0.0004	0.0057	0.0051	9.624e-05	0	0.0004	0.0003	0	9.432e-05	0.0238	0.0003	0.0014	0.0077	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.981	0.75168	D	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	2.605	0.76211	M	0.6	0.53731	T	-4.14	0.75220	D	0.708	0.71587	-0.4276	0.71144	T	0.341	0.70705	T	10	0.009708822	0.00218	T	0.027715	0.50496	D	0.421	0.73005	0.468	0.54052	0.799269044683	0.79740	0.39999589072331615	0.39914	0.790290557923	0.65750	0.695385456085	0.66478	T	0.331755	0.70179	T	-0.152377	0.27941	T	0.0155935	0.71344	D	0.102065058359253	0.12583	T	0.944006	0.78847	D	0.85099375	0.87409	0.77656585	0.86819	0.8476411	0.87163	0.7747531	0.86710	-10.559	0.77185	D	.	.	0.175	0.45520	B	.;.;.	.;.;.	5.025069	0.83534	28.1	0.99297806414847678	0.58505	0.98847	0.87641	D	AEFI	0.902154	0.84971	D	0.877066562431841	0.90591	10.47437	0.875903104390561	0.94434	12.75806	0.999999427704446	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.58	5.58	0.84361	9.423000	0.96699	9.926000	0.82543	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.718	0.91645	597	0.68309	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.005051	0.004076	0.011696	0.000000	0.034483	0.006098	0.011364	0.07143	713.53	35	chr18	53305666	.	G	A	713.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.228;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=1.01;SOR=0.681	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1205	6	0	1	0
chr18	58536450	58536450	G	T	exonic	ALPK2	.	nonsynonymous SNV	ALPK2:NM_052947:exon5:c.C3737A:p.S1246Y	.	429	1085	8	0	0	8	0.00367309	.	.	.	1786850	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.0164542215967	0.0012	0.000798722	0.0009	0.0005	0.0003	0	0	0.0014	0.0011	0.0002	0.0009379	145	154602	rs151102442	0.0012	0.0012	0.0012	0.0012	0.0036	0.0012	0.0012	0.0024	0.0021	0.0003	0.0006	0.0015	0	5.626e-05	0.0036	0.0014	0.0014	0.0003	0.0008	0.0008	0.0009	0.0007	0.0014	0.0007	0.0006	0.0012	0.0011	0.0004	0	0.0004	0.0006	0	9.418e-05	0.0068	0.0014	0.0005	0	0.022	0.48642	D	0.257	0.23231	T	0.926	0.51467	P	0.556	0.49411	P	0.015174	0.01409	N	2.179350	1	0.08975	N	0.975	0.24501	L	0.78	0.49358	T	-2.15	0.48687	N	0.169	0.17966	-0.9986	0.30311	T	0.223	0.58652	T	10	0.019728959	0.00444	T	0.016454	0.37712	T	0.053	0.14996	.	.	0.671345282208	0.66856	0.10295188182976175	0.10225	0.306521263567	0.32958	0.295510172844	0.09734	T	0.01024	0.09261	T	-0.487507	0.00671	T	-0.497674	0.22589	T	0.0177731125919662	0.00506	T	0.561144	0.19645	T	0.06364406	0.13422	0.0838684	0.19251	0.06364406	0.13422	0.0838684	0.19251	-6.557	0.50724	T	.	.	0.120	0.24867	B	.	.	0.885357	0.12589	9.114	0.74326821332451498	0.10654	0.08774	0.14653	N	AEFGBHCI	0.136292	0.25691	N	-0.230568247740873	0.31885	1.792448	-0.387477002250301	0.25368	1.39473	0.999999443994169	0.74766	0.554377	0.28877	0	0.52208	0.09955	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.77	3.0	0.33773	1.009000	0.29487	3.115000	0.36376	0.676000	0.76740	0.689000	0.28522	0.245000	0.23879	0.007000	0.07825	0.2856:0.0:0.7144:0.0	6.728	0.22557	975	0.05339	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.005848	0.050000	0.000000	0.006098	0.000000	0.07143	2246.63	60	chr18	58536450	.	G	T	2246.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.004;DP=661;ExcessHet=0;FS=5.019;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-0.398;SOR=0.443	GT:AD:DP:GQ:PL	0/0:141,0:141:99:0,120,1800	6	0	1	0
chr18	58918859	58918859	C	T	exonic	ZNF532	.	nonsynonymous SNV	ZNF532:NM_001318726:exon3:c.C572T:p.T191M,ZNF532:NM_001318727:exon3:c.C572T:p.T191M,ZNF532:NM_001353525:exon3:c.C572T:p.T191M,ZNF532:NM_001353528:exon3:c.C572T:p.T191M,ZNF532:NM_001353529:exon3:c.C572T:p.T191M,ZNF532:NM_001353532:exon3:c.C572T:p.T191M,ZNF532:NM_001353533:exon3:c.C572T:p.T191M,ZNF532:NM_001353534:exon3:c.C572T:p.T191M,ZNF532:NM_001353535:exon3:c.C572T:p.T191M,ZNF532:NM_001353536:exon3:c.C572T:p.T191M,ZNF532:NM_001353537:exon3:c.C572T:p.T191M,ZNF532:NM_001353538:exon3:c.C572T:p.T191M,ZNF532:NM_001375912:exon3:c.C572T:p.T191M,ZNF532:NM_001375913:exon3:c.C572T:p.T191M,ZNF532:NM_001318728:exon4:c.C572T:p.T191M,ZNF532:NM_001353526:exon4:c.C572T:p.T191M,ZNF532:NM_001353527:exon4:c.C572T:p.T191M,ZNF532:NM_001353530:exon4:c.C572T:p.T191M,ZNF532:NM_001353531:exon4:c.C572T:p.T191M,ZNF532:NM_018181:exon4:c.C572T:p.T191M	.	430	1049	40	3	0	46	0.0214552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	.	0.0022	0.00519169	0.0051	0.0006	0.0013	0	0.0060	0.0032	0.0022	0.0209	0.0045795	708	154602	rs138581536	0.0038	0.0038	0.0031	0.0044	0.0205	0.0037	0.0036	0.0197	0.0194	0.0006	0.0013	0.0039	2.519e-05	0.0059	0.0125	0.0027	0.0035	0.0205	0.0031	0.0031	0.0027	0.0036	0.0200	0.0029	0.0028	0.0167	0.0155	0.0009	0	0.0024	0.0032	0	0.0067	0.0136	0.0032	0.0019	0.0200	0.132	0.26519	T	0.111	0.37173	T	0.406	0.34969	B	0.053	0.25678	B	0.967652	0.07758	N	1.013930	1	0.08975	N	1.1	0.28011	L	4.78	0.01551	T	-0.27	0.11366	N	0.109	0.15749	-0.9358	0.43272	T	0.006	0.02131	T	10	0.0024507642	0.00037	T	.	.	.	0.146	0.38789	.	.	0.043077524339	0.03247	0.015359013760375682	0.01491	0.60470736792	0.55397	0.25651088357	0.04483	T	0.00857	0.07859	T	-0.666255	0.00058	T	-0.714211	0.05080	T	0.00518461185078832	0.00056	T	0.90461	0.66442	D	0.063076414	0.13243	0.031573232	0.01765	0.063076414	0.13243	0.031573232	0.01765	-5.006	0.36905	T	.	.	0.072	0.04975	B	.;.;.;.;.	.;.;.;.;.	1.650501	0.21054	15.03	0.43793698931986141	0.03322	0.14789	0.18586	N	AEFGBI	0.131005	0.24979	N	-0.474476265306051	0.22920	1.227163	-0.499071598623072	0.22179	1.203422	0.999997780700719	0.74766	0.722319	0.85440	0	0.610034	0.51514	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	0.563000	0.23250	0.823000	0.21872	-0.178000	0.10482	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6701:0.1706:0.1593	5.740	0.17357	938	0.14419	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.005435	0.011696	0.000000	0.000000	0.012195	0.007576	0.07143	111.44	34	chr18	58918859	.	C	T	111.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.674;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.57;ReadPosRankSum=0.674;SOR=0.368	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1350	6	0	1	0
chr18	59454948	59454948	T	C	exonic	CCBE1	.	nonsynonymous SNV	CCBE1:NM_133459:exon6:c.A557G:p.H186R	Hennekam lymphangiectasia-lymphedema syndrome 1, Autosomal recessive	1	1513	8	0	0	8	0.00263678	.	.	.	879659	Hennekam_lymphangiectasia-lymphedema_syndrome_1|not_specified|not_provided|CCBE1-related_disorder	MONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510,Orphanet:2136|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.105	0.00985577790729	0.0002	0.000798722	0.0010	0	0.0002	0	0	0.0006	0.0011	0.0051	0.0008861	137	154602	rs115071386	0.0006	0.0006	0.0005	0.0007	0.0042	0.0005	0.0005	0.0038	0.0037	0.0001	0.0004	0.0010	0	0	0.0016	0.0003	0.0008	0.0042	0.0004	0.0004	0.0003	0.0005	0.0023	0.0003	0.0003	0.0013	0.0010	4.813e-05	0	0.0003	0.0017	0.0002	0	0.0034	0.0005	0.0019	0.0023	0.192	0.20988	T	0.358	0.19131	T	0.0	0.02946	B	0.0	0.01387	B	0.081452	0.20865	N	0.505414	0.999999	0.58761	D	1.79	0.46772	L	-0.35	0.68616	T	-1.19	0.30346	N	0.158	0.16447	-1.0169	0.24722	T	0.136	0.45145	T	10	0.0049586296	0.00106	T	0.009856	0.25698	T	0.105	0.29889	.	.	0.659007425792	0.65615	0.44647859913766336	0.44565	0.0774815839062	0.08712	0.384358525276	0.22873	T	0.022505	0.17341	T	-0.449503	0.01137	T	-0.418053	0.31298	T	0.0141161559240722	0.00275	T	0.441056	0.12198	T	0.0345036	0.03885	0.052201126	0.08554	0.0345036	0.03885	0.052201126	0.08553	-2.19	0.03992	T	0.12651052266418664	0.12784	0.064	0.02012	B	.;.;.	.;.;.	1.128147	0.15144	11.62	0.68940301646394486	0.08814	0.05264	0.11102	N	AEFDBCIJ	0.055996	0.10315	N	-0.851005316199243	0.12026	0.583689	-0.836019753879837	0.13624	0.7077709	0.999960463169472	0.48965	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.63	1.77	0.23848	0.293000	0.18785	0.073000	0.14287	0.665000	0.62972	0.253000	0.24879	0.016000	0.20520	0.720000	0.34772	0.198:0.1002:0.1636:0.5381	1.380	0.02094	945	0.12563	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.008621	0.006098	0.003788	0.07143	1539.44	35	chr18	59454948	.	T	C	1539.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.948;DP=308;ExcessHet=0;FS=4.478;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-0.681;SOR=0.381	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1205	6	0	1	0
chr18	63660799	63660799	C	T	splicing	SERPINB3	NM_006919:exon3:c.222+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	0.0016	0	8.786e-05	0	0	9.03e-05	0.0044	0.0109	0.0013713	212	154602	rs79688177	0.0007	0.0007	0.0004	0.0010	0.0106	0.0007	0.0007	0.0101	0.0098	0	6.723e-05	0	0	0	0.0005	6.118e-05	0.0010	0.0106	0.0004	0.0004	0.0002	0.0006	0.0118	0.0003	0.0003	0.0094	0.0085	2.407e-05	0	0	0	0	0	0	4.411e-05	0.0009	0.0118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.469158	0.00860	T	-0.437295	0.29111	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.936903	0.57579	23.9	0.96378828586271525	0.29610	0.43020	0.27006	N	AEFDGBCI	.	.	.	0.5030049056135	0.67266	5.058912	0.180687302432807	0.48789	3.09022	0.943402966853635	0.27567	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.706536	0.43039	3.02	3.02	0.33970	2.980000	0.49011	0.516000	0.19122	0.442000	0.21104	0.773000	0.29391	0.106000	0.22736	0.014000	0.10232	0.0:1.0:0.0:0.0	9.781	0.39814	969	0.06854	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2354.44	35	chr18	63660799	.	C	T	2354.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.244;DP=409;ExcessHet=0;FS=2.989;MLEAC=1;MLEAF=0.071;MQ=58.18;MQRankSum=-0.239;QD=10.7;ReadPosRankSum=1.65;SOR=0.758	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1383	6	0	1	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G,CDH7:NM_001362438:exon6:c.C833G:p.A278G,CDH7:NM_004361:exon6:c.C833G:p.A278G,CDH7:NM_033646:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	693.59	29	chr18	65824683	.	C	G	693.59	.	AC=5;AF=0.5;AN=10;BaseQRankSum=0.023;DP=379;ExcessHet=8.9625;FS=442.858;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.6;ReadPosRankSum=1.02;SOR=9.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,19:69:99:.:.:211,0,1063:.	0	0	5	2
chr18	74353735	74353735	C	T	exonic	C18orf63	.	nonsynonymous SNV	C18orf63:NM_001174123:exon12:c.C1468T:p.R490C	.	440	1081	1	0	0	1	0.000462321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0129602597097	.	0.000199681	7.005e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs572659007	2.024e-05	1.915e-05	1.855e-05	2.197e-05	0.0005	1.403e-05	1.208e-05	0.0003	0.0003	3.166e-05	0	0	0.0005	0	0	4.635e-06	0	5.049e-05	2.629e-05	2.626e-05	3.856e-05	1.345e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.394e-05	0	0	0	0	0.0006	0	0	0	0	0.0002	.	.	.	0.077	0.42436	T	1.0	0.90584	D	0.938	0.67350	D	0.052183	0.22916	N	0.379064	1	0.08975	N	2.42	0.70002	M	0.87	0.46412	T	.	.	.	0.271	0.30687	-0.9696	0.37283	T	0.166	0.50372	T	9	0.059342057	0.07118	T	0.01296	0.31981	T	.	.	0.282	0.23801	0.365317461125	0.36143	0.6245759726350817	0.62390	.	.	.	.	.	0.094343	0.39397	T	-0.27371	0.11346	T	-0.259856	0.48839	T	0.325168306054829	0.26030	T	0.59804	0.22252	T	0.12449977	0.29209	0.14574455	0.34554	0.12449977	0.29209	0.14574455	0.34553	-4.108	0.25408	T	.	.	0.152	0.33732	B	.	.	2.231157	0.28483	17.81	0.37221213982555451	0.02440	0.05650	0.11563	N	AEFGBCI	0.052497	0.09376	N	-0.375094303831125	0.26359	1.437995	-0.600761177059275	0.19473	1.044948	0.0309106959571959	0.13972	0.59774	0.34471	0	0.615948	0.52940	0	0.547309	0.15389	0	0.63947	0.58350	0	.	.	5.42	0.418	0.15647	0.053000	0.14067	2.215000	0.31401	-0.117000	0.14459	0.009000	0.18154	0.006000	0.19429	0.061000	0.16044	0.5892:0.1541:0.2567:0.0	4.758	0.12467	988	0.01987	Domain of unknown function DUF4708	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	2436.29	34	chr18	74353735	.	C	T	2436.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.15;DP=355;ExcessHet=0.3476;FS=3.218;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.897;SOR=0.952	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,111,1223	5	0	2	0
chr18	74631312	74631312	A	T	exonic	ZNF407	.	nonsynonymous SNV	ZNF407:NM_001146189:exon1:c.A293T:p.E98V,ZNF407:NM_001146190:exon1:c.A293T:p.E98V,ZNF407:NM_001384475:exon2:c.A293T:p.E98V,ZNF407:NM_017757:exon2:c.A293T:p.E98V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00372713180775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.37326	T	0.013	0.70582	D	0.004	0.12183	B	0.005	0.12133	B	0.008157	0.01195	U	46.647700	1	0.08975	N	1.32	0.33002	L	3.19	0.11189	T	-1.22	0.31778	N	0.118	0.11483	-0.9759	0.35926	T	0.022	0.09513	T	10	0.058657706	0.06931	T	0.003727	0.08651	T	0.050	0.13987	0.15	0.05339	0.043077524339	0.03247	0.19793107834112908	0.19710	0.099632476117	0.11245	0.21975338459	0.01296	T	0.035523	0.23750	T	-0.338286	0.05507	T	-0.723701	0.04619	T	0.0888149174030515	0.11075	T	0.39866	0.10107	T	0.083590336	0.19311	0.042102072	0.04939	0.083590336	0.19310	0.042102072	0.04938	-3.644	0.18495	T	.	.	0.121	0.29615	B	.;.;.;.	.;.;.;.	1.186697	0.15778	12.09	0.94716853837311943	0.25385	0.15008	0.18698	N	AEFGBI	0.063483	0.12270	N	-1.09679062746786	0.06702	0.3092664	-1.12282883709582	0.07265	0.3527471	0.99985595567785	0.44174	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.463824	0.07026	1	.	.	4.88	0.461	0.15901	1.013000	0.29540	0.093000	0.14542	0.691000	0.84096	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.4661:0.2985:0.0:0.2354	4.703	0.12216	730	0.54327	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1695.44	164	chr18	74631312	.	A	T	1695.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.584;DP=986;ExcessHet=0;FS=2.234;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.127;SOR=0.5	GT:AD:DP:GQ:PL	0/0:283,0:283:99:0,120,1800	6	0	1	0
chr18	75063827	75063827	G	A	exonic	ZNF407	.	nonsynonymous SNV	ZNF407:NM_001384475:exon9:c.G6106A:p.E2036K,ZNF407:NM_017757:exon9:c.G6106A:p.E2036K	.	.	.	.	.	.	.	.	.	.	.	2284287	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.091	0.0243284085761	8.1e-05	.	6.901e-05	0.0002	0.0002	0	0	6.292e-05	0	0	5.17e-05	8	154602	rs371814141	5.703e-05	5.678e-05	6.015e-05	5.387e-05	0.0002	4.697e-05	4.32e-05	0.0001	9.2e-05	8.965e-05	0.0002	3.832e-05	0	0	0.0002	5.31e-05	0.0001	0	0.0002	0.0002	0.0002	0.0001	0.0009	0.0001	8.733e-05	0.0005	0.0004	9.67e-05	0	0.0009	0	0.0002	0	0	4.413e-05	0.0010	0	0.093	0.31532	T	0.443	0.13215	T	0.804	0.45171	P	0.163	0.34892	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	2.84	0.10674	T	-0.32	0.12283	N	0.207	0.22998	-1.1430	0.01250	T	0.028	0.11926	T	9	0.09957054	0.18079	T	0.024328	0.47317	T	0.091	0.26358	.	.	0.0675242888579	0.06100	0.24659611012894564	0.24573	0.229324476195	0.25492	0.346648752689	0.17427	T	0.022013	0.17042	T	-0.44681	0.01179	T	-0.610288	0.11961	T	0.0342017310015366	0.02672	T	0.622038	0.23930	T	0.1285758	0.30056	0.114114106	0.27544	0.1285758	0.30056	0.114114106	0.27544	-5.524	0.42092	T	.	.	0.082	0.08899	B	.	.	1.759264	0.22376	15.60	0.98485271816132491	0.42025	0.24392	0.22379	N	AEFDBI	0.110870	0.21971	N	-0.470391307214664	0.23054	1.235369	-0.572875994726723	0.20202	1.087317	0.41888009546777	0.20275	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	4.45	4.45	0.53365	3.373000	0.52124	6.972000	0.57094	0.672000	0.70159	0.353000	0.25784	0.997000	0.33255	0.003000	0.05239	0.0:0.0:1.0:0.0	17.106	0.86541	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1143.27	29	chr18	75063827	.	G	A	1143.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.555;DP=256;ExcessHet=0;FS=1.78;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=0.653;SOR=0.478	GT:AD:DP:GQ:PL	0/1:39,46:85:99:1153,0,907	5	0	1	1
chr18	75285859	75285859	A	G	exonic	TSHZ1	.	nonsynonymous SNV	TSHZ1:NM_001308210:exon2:c.A452G:p.K151R,TSHZ1:NM_005786:exon2:c.A317G:p.K106R	Aural atresia, congenital, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0101009392439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.602e-06	9.577e-06	1.228e-05	6.897e-06	1.261e-05	5.57e-06	4.36e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.261e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.91255	T	0.162	0.31225	T	0.016	0.17332	B	0.016	0.17743	B	0.022328	0.26655	N	0.294663	0.957984	0.26241	N	1.1	0.28011	L	2.69	0.23082	T	-0.12	0.31170	N	0.095	0.17966	-1.0135	0.25816	T	0.020	0.08266	T	10	0.12936667	0.24614	T	0.010101	0.26235	T	0.037	0.09474	0.164	0.06842	0.624834224408	0.62178	0.2305475118178198	0.22969	0.308946367022	0.33212	0.344445198774	0.17100	T	0.079568	0.36158	T	-0.181859	0.23458	T	-0.499004	0.22450	T	0.361432254314423	0.27465	T	0.671533	0.28021	T	0.07538909	0.16982	0.1452968	0.34464	0.07538909	0.16982	0.1452968	0.34463	-4.583	0.31957	T	.	.	0.082	0.12750	B	.;.;.	.;.;.	3.165596	0.42909	21.6	0.81069619512628421	0.13505	0.97015	0.72198	D	AEFDBI	0.488208	0.52663	N	-0.28932376319022	0.29559	1.640319	-0.101794181779673	0.35319	2.041892	0.941942436515841	0.27500	0.562547	0.31514	0	0.546412	0.12157	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.16	5.16	0.70563	3.942000	0.56324	5.232000	0.48034	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.182000	0.21359	1.0:0.0:0.0:0.0	13.585	0.61389	1000	0.00083	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	100.44	86	chr18	75285859	.	A	G	100.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.842;DP=439;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.74;ReadPosRankSum=-0.842;SOR=1.609	GT:AD:DP:GQ:PL	0/0:110,0:110:99:0,120,1800	6	0	1	0
chr18	79373903	79373903	A	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.A3076G:p.I1026V,ATP9B:NM_198531:exon28:c.A3076G:p.I1026V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0104317513341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0012	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	0.0003	0	0.0001	2.767e-05	4.173e-05	0.0005	0.0005	0.0003	0.0001	0	6.588e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.08700	B	0.000007	0.62929	N	0.106321	0.999956	0.52396	D	.	.	.	-0.34	0.68474	T	0.49	0.02993	N	0.356	0.39760	-1.0003	0.29831	T	0.106	0.38685	T	10	0.17882419	0.32987	T	0.010432	0.26958	T	0.125	0.34456	0.516	0.61611	0.557831953242	0.55443	0.32797818657124184	0.32710	0.19016546305	0.21331	0.641342043877	0.58755	T	0.051017	0.28760	T	-0.0924065	0.37678	T	-0.370512	0.36829	T	0.962732970714569	0.66454	D	0.929107	0.73907	D	0.025876695	0.01576	0.035724007	0.02878	0.025876695	0.01576	0.035724007	0.02878	-4.704	0.33453	T	.	.	0.076	0.05756	B	.;.	.;.	1.506156	0.19358	14.22	0.4022302230854744	0.02825	0.97863	0.77695	D	AEFBI	0.690181	0.65060	D	-0.529217151314464	0.21140	1.119708	-0.32364514690563	0.27337	1.516199	0.922846515319302	0.26722	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.71	0.41733	5.906000	0.69639	0.174000	0.15553	0.756000	0.94297	1.000000	0.71638	0.001000	0.17328	0.726000	0.34967	0.9163:0.0:0.0837:0.0	10.024	0.41234	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	355.42	35	chr18	79373903	.	A	G	355.42	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.847;DP=232;ExcessHet=0;FS=45.313;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=1.49;SOR=5.279	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:57,0:57:63:.:.:0,63,1198:.	4	0	1	2
chr18	79373905	79373905	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3078G:p.I1026M,ATP9B:NM_198531:exon28:c.C3078G:p.I1026M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0345994434534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0038	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	0.0006	2.243e-05	0.0002	0.0001	1.877e-05	0.0007	0.0010	0.0008	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	0.131	0.34959	T	0.354	0.33710	B	0.045	0.30390	B	0.000007	0.62929	D	0.106321	1	0.81001	D	.	.	.	-0.78	0.73631	T	-1.25	0.31576	N	0.772	0.80473	-0.7945	0.55467	T	0.230	0.59608	T	10	0.6346408	0.68711	D	0.034599	0.55783	D	0.342	0.66392	0.54	0.65161	0.652458548239	0.64956	0.694288075113171	0.69369	0.260033580267	0.28572	0.683687150478	0.64798	T	0.10075	0.40685	T	-0.0241352	0.48263	T	-0.272445	0.47572	T	0.36296334862709	0.27525	T	0.933407	0.75038	D	0.09914479	0.23395	0.10145065	0.24287	0.09914479	0.23395	0.10145065	0.24286	-6.858	0.52989	T	.	.	0.133	0.28835	B	.;.	.;.	1.363101	0.17722	13.33	0.95841953356481135	0.27968	0.40437	0.26436	N	AEFBI	0.191278	0.31848	N	-0.675120176808742	0.16732	0.8550748	-0.728338547967329	0.16257	0.8591364	0.00264162814707333	0.09600	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	-2.28	0.06438	-0.715000	0.05099	-0.654000	0.08013	-0.182000	0.10109	0.002000	0.15269	0.008000	0.19753	0.773000	0.36634	0.0995:0.4512:0.0:0.4493	8.239	0.30810	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	380.07	29	chr18	79373905	.	C	G	380.07	.	AC=3;AF=0.375;AN=8;BaseQRankSum=0.803;DP=206;ExcessHet=2.4304;FS=107.109;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.39;ReadPosRankSum=1.63;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,9:46:15:0|1:79373905_C_G:15,0,702:79373905	1	0	3	3
chr18	79373906	79373906	C	T	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079T:p.L1027F,ATP9B:NM_198531:exon28:c.C3079T:p.L1027F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.0284690929236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	0	1.376e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.554	0.41464	P	0.197	0.43233	B	0.000044	0.53742	D	0.072519	0.999999	0.58761	D	.	.	.	-1.06	0.76819	T	-2.04	0.46842	N	0.573	0.62950	-0.9349	0.43409	T	0.119	0.41648	T	10	0.361637	0.52779	T	0.028469	0.51139	D	0.365	0.68495	0.508	0.60386	0.815369968599	0.81363	0.8176144227679487	0.81718	0.338732872668	0.35836	0.746733427048	0.73965	T	0.144628	0.48135	T	0.0232865	0.54826	T	-0.204327	0.54237	T	0.985363662242889	0.76380	D	0.961204	0.85427	D	0.28799716	0.51806	0.31295186	0.57294	0.28799716	0.51806	0.31295186	0.57294	-11.447	0.83762	D	.	.	0.676	0.71986	P	.;.	.;.	3.098208	0.41745	21.4	0.99739806707809964	0.83409	0.69529	0.34224	D	AEFBI	0.189841	0.31708	N	-0.293001453477025	0.29417	1.631174	-0.168557634840095	0.32700	1.863048	0.0147255712762604	0.12630	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.95	0.44952	0.466000	0.21731	3.026000	0.36022	0.599000	0.40250	0.056000	0.21631	0.996000	0.32793	0.811000	0.38219	0.1604:0.7591:0.0:0.0805	7.951	0.29178	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	368.39	35	chr18	79373906	.	C	T	368.39	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.739;DP=213;ExcessHet=0;FS=107.109;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=1.74;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:37,0:46:99:0|1:79373905_C_G:0,106,833:79373905	4	0	1	2
chr18	79736498	79736498	C	T	exonic	CTDP1	.	nonsynonymous SNV	CTDP1:NM_048368:exon11:c.C2561T:p.A854V	Congenital cataracts, facial dysmorphism, and neuropathy, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2029955	not_provided|CTDP1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.026	0.0146719117037	.	.	0.0007	0	0	0	0	0	0	0.0015	7.12e-05	11	154602	rs775966859	4.879e-05	5.199e-05	2.547e-05	7.279e-05	0.0007	3.91e-05	3.578e-05	0.0006	0.0005	3.186e-05	0	0	0	0	0	9.285e-06	1.735e-05	0.0007	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	0.0	0.91255	D	.	.	.	0.004	0.12183	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	2.86	0.10482	T	-0.23	0.10656	N	0.115	0.10340	-0.9855	0.33711	T	0.019	0.07753	T	8	0.018797696	0.00412	T	0.014672	0.34938	T	0.026	0.05648	0.43	0.47843	0.138757226776	0.13463	.	.	.	.	.	.	.	.	.	.	-0.402058	0.02244	T	-0.450006	0.27697	T	0.052705168307385	0.05968	T	0.489851	0.15048	T	.	.	.	.	.	.	.	.	-4.836	0.35008	T	.	.	0.108	0.20313	B	.	.	0.350282	0.07236	3.831	0.98333217723901289	0.40358	0.04452	0.10056	N	AEFDBCI	0.019026	0.00624	N	-1.08849691705478	0.06854	0.3167243	-1.22749200509464	0.05472	0.2608367	0.838378897085658	0.24821	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.7	-3.45	0.04479	-0.381000	0.07475	-3.301000	0.02894	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.006000	0.07323	0.0:0.2464:0.2819:0.4717	5.257	0.14870	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	126.64	10	chr18	79736498	.	C	T	126.64	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.087;DP=94;ExcessHet=0;FS=2.632;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-3.067;SOR=1.981	GT:AD:DP:GQ:PL	0/0:18,0:18:48:0,48,720	6	0	1	0
chr18	80136273	80136273	C	T	exonic	ADNP2	.	nonsynonymous SNV	ADNP2:NM_014913:exon4:c.C860T:p.A287V	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0109558198651	.	.	6.596e-05	0	0.0002	0	0	7.501e-05	0	6.059e-05	5.17e-05	8	154602	rs746538568	3.216e-05	3.283e-05	3.404e-05	3.026e-05	0.0002	2.478e-05	2.221e-05	0.0001	7.818e-05	8.962e-05	0.0002	0.0003	0	0	0	1.529e-05	8.282e-05	6.956e-05	5.911e-05	5.909e-05	6.421e-05	5.376e-05	0.0003	3.076e-05	2.209e-05	8.873e-05	5.283e-05	2.411e-05	0	0.0003	0	0	0	0	4.409e-05	0	0.0002	0.065	0.36310	T	0.17	0.30436	T	0.99	0.63424	D	0.469	0.46748	P	0.000175	0.48594	D	0.087247	0.999999	0.08975	N	2.175	0.60977	M	.	.	.	-1.11	0.28703	N	0.064	0.03613	-1.0353	0.18762	T	0.072	0.29163	T	8	0.108804226	0.20270	T	0.010956	0.28083	T	0.117	0.32689	.	.	0.605465558274	0.60230	0.21509653508929813	0.21425	0.517838923468	0.49650	0.43292221427	0.29608	T	0.040735	0.25625	T	-0.247779	0.14371	T	-0.324394	0.42091	T	0.177874147891998	0.19100	T	0.586841	0.21439	T	0.024569076	0.01301	0.04443184	0.05757	0.024569076	0.01301	0.04443184	0.05756	-3.975	0.23428	T	.	.	0.088	0.11461	B	.	.	1.596257	0.20413	14.74	0.99587694189043852	0.73395	0.15013	0.18700	N	AEFBCI	0.096091	0.19404	N	-0.134468375544877	0.35898	2.067867	-0.198768249303465	0.31582	1.788687	0.999975872104842	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	1.837000	0.38841	1.049000	0.23621	-0.171000	0.11205	0.029000	0.20367	0.013000	0.20296	0.001000	0.02609	0.0:0.9255:0.0:0.0745	12.685	0.56310	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1850.44	54	chr18	80136273	.	C	T	1850.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.291;DP=484;ExcessHet=0;FS=0.658;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=0.286;SOR=0.602	GT:AD:DP:GQ:PL	0/0:98,0:98:99:0,120,1800	6	0	1	0
chr19	549171	549171	C	T	exonic	GZMM	.	stopgain	GZMM:NM_001258351:exon4:c.C481T:p.Q161X,GZMM:NM_005317:exon4:c.C598T:p.Q200X	.	418	1086	17	1	0	19	0.00867184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0041	0.0061901	0.0142	0.0014	0.0218	0	0.0080	0.0136	0.0177	0.0226	0.0050517	781	154602	rs200398398	0.0058	0.0058	0.0053	0.0063	0.0185	0.0057	0.0057	0.0177	0.0174	0.0009	0.0059	0.0022	2.625e-05	0.0019	0.0061	0.0055	0.0060	0.0185	0.0048	0.0048	0.0045	0.0051	0.0189	0.0045	0.0044	0.0157	0.0146	0.0012	0	0.0082	0.0023	0.0002	0.0011	0.0068	0.0063	0.0066	0.0189	.	.	.	.	.	.	.	.	.	.	.	.	0.767245	0.09575	U	0.816174	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.054	0.02559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0271905	0.47824	T	0.201792	0.83225	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant	.;High	7.367831	0.96444	36	0.97203068963353823	0.32820	0.02489	0.06965	N	AEFDBIJ	0.036085	0.04752	N	-0.126880149528579	0.36223	2.091002	-0.514698853503994	0.21754	1.178308	2.0296530167206E-4	0.05948	0.569682	0.32691	0	0.657636	0.61667	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.87	0.623	0.16827	0.463000	0.21683	0.058000	0.14093	0.478000	0.22058	0.053000	0.21524	0.000000	0.08366	0.010000	0.09038	0.0:0.6961:0.0:0.3039	4.881	0.13039	994	0.00715	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009804	0.022472	0.009589	0.009036	0.050000	0.000000	0.009434	0.011450	0.07143	552.63	39	chr19	549171	.	C	T	552.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.535;DP=244;ExcessHet=0;FS=0.987;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.78;ReadPosRankSum=-1.108;SOR=0.892	GT:AD:DP:GQ:PL	0/1:46,25:71:99:563,0,1221	6	0	1	0
chr19	624879	624879	C	T	exonic	POLRMT	.	nonsynonymous SNV	POLRMT:NM_005035:exon5:c.G980A:p.G327E	.	409	1107	6	0	0	6	0.0027027	.	.	.	3369667	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.193	0.29397153573	.	.	0.0001	0	0	0	0	0.0001	0	0.0005	0.0001164	18	154602	rs549647427	6.232e-05	6.225e-05	5.042e-05	7.433e-05	0.0016	5.167e-05	4.785e-05	0.0008	0.0006	0	0	3.834e-05	0	0	0.0016	3.868e-05	0.0002	0.0003	7.222e-05	7.217e-05	7.708e-05	6.714e-05	0.0004	3.968e-05	3.125e-05	7.299e-05	3.032e-05	0	0	0	0	0	0	0.0102	5.881e-05	0.0009	0.0004	.	.	.	0.011	0.64786	D	0.991	0.64070	D	0.935	0.67021	D	0.000070	0.52346	D	0.167447	0.999757	0.20482	N	2.455	0.71248	M	.	.	.	.	.	.	0.427	0.46649	-0.7712	0.56792	T	0.292	0.66412	T	10	0.20647863	0.36910	T	0.293972	0.90659	D	.	.	0.637	0.77361	0.60055981612	0.59737	0.7047992716114283	0.70421	0.89452390681	0.70386	0.354479849339	0.18579	T	0.139826	0.47404	T	-0.264001	0.12435	T	-0.306477	0.44037	T	0.194088386498514	0.20083	T	0.735926	0.35246	T	0.83400035	0.86183	0.44999534	0.67990	0.83400035	0.86184	0.44999534	0.67990	-8.662	0.65497	D	.	.	0.256	0.57317	B	.;.	.;.	3.072809	0.41311	21.3	0.97643384180452475	0.35091	0.21781	0.21522	N	AEFBI	0.079576	0.16075	N	-0.23627028464525	0.31655	1.777183	-0.48624886105965	0.22532	1.224264	0.999828413436901	0.43622	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	4.12	1.97	0.25278	2.224000	0.42587	2.022000	0.30213	-0.202000	0.08738	0.067000	0.21986	0.729000	0.26404	0.017000	0.10941	0.0:0.7118:0.0:0.2882	7.580	0.27128	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.07143	1014.49	38	chr19	624879	.	C	T	1014.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.025;DP=282;ExcessHet=0;FS=5.669;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-1.806;SOR=1.313	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1397	6	0	1	0
chr19	994240	994240	C	T	exonic	WDR18	.	nonsynonymous SNV	WDR18:NM_024100:exon10:c.C1195T:p.R399C,WDR18:NM_001372085:exon12:c.C1195T:p.R399C,WDR18:NM_001372086:exon13:c.C964T:p.R322C	.	371	1148	3	0	0	3	0.00130492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.312	0.479418610981	7.7e-05	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs376924638	3.438e-06	4.788e-06	4.104e-06	2.766e-06	4.505e-06	1.01e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.67890	D	0.998	0.73220	D	0.828	0.59497	P	0.003809	0.34463	N	0.218604	0.994239	0.42208	D	0.895	0.22405	L	-0.47	0.70133	T	.	.	.	0.37	0.48963	-0.5367	0.67289	T	0.295	0.66688	T	10	0.5586696	0.64663	D	0.479419	0.94816	D	.	.	.	.	0.253981072376	0.25009	0.524628104263146	0.52386	.	.	0.542037129402	0.44733	T	0.01171	0.10405	T	-0.0622693	0.42550	T	-0.327222	0.41777	T	0.914895594120026	0.57171	D	0.872413	0.57909	D	0.12762558	0.29860	0.08303455	0.18998	0.12762558	0.29860	0.08303455	0.18998	-6.52	0.50441	T	.	.	0.116	0.35870	B	.;.	.;.	4.516460	0.70779	25.6	0.99850399521420541	0.93013	0.93897	0.59508	D	AEFBI	0.409738	0.48089	N	0.225032104919866	0.52415	3.415775	0.135637078934461	0.46385	2.885379	0.999983908259525	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.03	2.92	0.32998	2.116000	0.41553	2.698000	0.34139	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.019000	0.11356	0.3167:0.6833:0.0:0.0	8.264	0.30964	988	0.01987	WD repeat-containing protein 18, C-terminal domain;WD repeat-containing protein 18, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1330.83	117	chr19	994240	.	C	T	1330.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.422;DP=301;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-0.32;SOR=0.724	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,997	6	0	1	0
chr19	1009531	1009531	C	T	exonic	GRIN3B	.	nonsynonymous SNV	GRIN3B:NM_138690:exon9:c.C3061T:p.R1021C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00943831478807	.	.	.	.	.	.	.	.	.	.	.	.	.	rs773196134	2.995e-06	1.163e-05	4.417e-06	1.523e-06	3.787e-06	7e-07	4.7e-07	8.9e-07	6e-07	0	0	0	0	0	0	3.787e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.37966	T	0.05	0.48080	T	0.013	0.16609	B	0.001	0.04355	B	0.000180	0.00507	U	10.414400	1	0.08975	N	1.61	0.41143	L	2.72	0.11947	T	-0.44	0.14588	N	0.111	0.09772	-0.9886	0.32953	T	0.026	0.10998	T	10	0.08516735	0.14349	T	0.009438	0.24739	T	0.027	0.05988	0.408	0.44230	0.316494231283	0.31262	0.2402795844992465	0.23941	0.153597724265	0.17329	0.722209513187	0.70368	T	0.058814	0.30945	T	-0.367957	0.03699	T	-0.766321	0.02891	T	0.12062179037902	0.14491	T	0.516748	0.16663	T	0.047722824	0.08205	0.03135919	0.01713	0.047722824	0.08204	0.03135919	0.01713	-5.541	0.42250	T	.	.	0.158	0.34970	B	.	.	1.940959	0.24650	16.48	0.98832676719737245	0.46985	0.05842	0.11785	N	AEFDBHCIJ	0.089441	0.18128	N	-1.30264425085839	0.03645	0.1631949	-1.40035323824342	0.03249	0.1511688	0.999965397499999	0.48965	0.646311	0.45356	0	0.572659	0.20510	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.9	-3.54	0.04356	-1.477000	0.02437	0.367000	0.17636	-0.293000	0.06271	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1412:0.4382:0.2557:0.1649	2.462	0.04266	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	435.45	36	chr19	1009531	.	C	T	435.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.345;DP=247;ExcessHet=0;FS=3.812;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.7;ReadPosRankSum=-1.158;SOR=1.277	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	6	0	1	0
chr19	1047509	1047515	GGAGCAG	-	exonic	ABCA7	.	frameshift deletion	ABCA7:NM_019112:exon16:c.2124_2130del:p.E709Afs*86	.	.	.	.	.	.	.	.	.	.	.	227447	Primary_degenerative_dementia_of_the_Alzheimer_type,_presenile_onset|Alzheimer_disease_9|not_specified|not_provided|ABCA7-related_disorder	MedGen:C5779573|MONDO:MONDO:0012153,MedGen:C4282179,OMIM:608907|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	.	.	0.0028	0.000599042	0.0024	0.0009	0.0014	0	0.0049	0.0042	0.0034	0	0.0009056	140	154602	rs547447016	0.0023	0.0023	0.0025	0.0021	0.0027	0.0022	0.0022	0.0026	0.0026	0.0004	0.0009	0.0002	0	0.0026	0.0002	0.0027	0.0026	0	0.0017	0.0017	0.0018	0.0017	0.0030	0.0016	0.0015	0.0027	0.0025	0.0004	0	0.0012	0	0	0.0020	0	0.0030	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	320.23	17	chr19	1047508	.	AGGAGCAG	A	320.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.143;DP=148;ExcessHet=0;FS=3.624;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-1.304;SOR=0.612	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,840	5	0	1	1
chr19	1049358	1049358	-	G	exonic	ABCA7	.	frameshift insertion	ABCA7:NM_019112:exon18:c.2474dupG:p.L827Afs*68	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.468e-06	0	0	0	0	1.554e-05	0	0	6.5e-06	1	154602	rs745310748	2.055e-06	2.052e-06	2.727e-06	1.377e-06	2.519e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	2.519e-05	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1001.79	35	chr19	1049358	.	C	CG	1001.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.8;DP=235;ExcessHet=0;FS=2.124;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=-1.753;SOR=0.748	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1046	6	0	1	0
chr19	1051294	1051294	G	C	exonic	ABCA7	.	nonsynonymous SNV	ABCA7:NM_019112:exon20:c.G2824C:p.G942R	.	.	.	.	.	.	.	.	1.0000	0.998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.818	.	0.0002	0.000199681	5.301e-05	0	0	0	0	9.413e-05	0	0	5.82e-05	9	154602	rs200140277	2.983e-05	3.01e-05	1.927e-05	4.057e-05	0.0012	2.248e-05	1.998e-05	0.0005	0.0003	0	2.283e-05	0	0	0	0.0012	2.632e-05	5.041e-05	4.8e-05	5.909e-05	5.905e-05	2.57e-05	9.398e-05	0.0001	3.075e-05	2.208e-05	3.762e-05	2.575e-05	0	0	0.0001	0	0	0	0.0034	8.819e-05	0	0	0.0	0.91255	D	0.01	0.65728	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	2.83	0.82355	M	-2.3	0.87671	D	-7.27	0.94404	D	0.668	0.90476	0.728	0.93518	D	0.779	0.92478	D	9	0.87312	0.86588	D	0.111919	0.78987	D	0.818	0.94162	.	.	0.937523783213	0.93687	0.7925235842047667	0.79205	0.576378428007	0.53594	0.565898895264	0.48098	T	0.921906	0.98609	D	0.136803	0.68018	D	0.153702	0.80417	D	0.919560790061951	0.57833	D	0.947905	0.79907	D	0.78933316	0.83232	0.7472851	0.85063	0.78933316	0.83233	0.7472851	0.85064	-7.746	0.61206	D	.	.	0.564	0.67377	A	.;.;.	.;.;.	6.308352	0.94988	34	0.99922847895844746	0.98852	0.97184	0.73184	D	AEFBHCI	0.908661	0.86425	D	0.591121751444824	0.72620	5.834488	0.479400827389731	0.66627	4.976676	0.999999999999746	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.67	4.67	0.58089	7.351000	0.78646	9.339000	0.80200	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.636000	0.32315	0.0:0.0:1.0:0.0	15.050	0.71519	988	0.01987	ABC transporter-like|ABC transporter, conserved site|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter, conserved site|ABC transporter-like|AAA+ ATPase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000505	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	82.83	40	chr19	1051294	.	G	C	82.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.876;DP=217;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=0.816;SOR=0.693	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	6	0	1	0
chr19	1106630	1106630	G	A	exonic	GPX4	.	unknown	UNKNOWN	Spondylometaphyseal dysplasia, Sedaghatian type, Autosomal recessive	407	1114	1	0	0	1	0.000448632	.	.	.	3203539	GPX4-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0002	0.000599042	0.0013	0	0	0.0002	0.0027	0.0007	0.0035	0.0050	0.0007956	123	154602	rs372066966	0.0006	0.0006	0.0005	0.0007	0.0038	0.0005	0.0005	0.0035	0.0034	3.009e-05	6.789e-05	7.686e-05	7.629e-05	0.0017	0.0003	0.0003	0.0007	0.0038	0.0006	0.0006	0.0006	0.0007	0.0050	0.0005	0.0005	0.0034	0.0029	2.406e-05	0	0	0	0	0.0014	0	0.0008	0	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008014709	0.00182	T	.	.	.	.	.	.	.	0.697169835009	0.69455	.	.	.	.	.	.	.	.	.	.	-0.597227	0.00152	T	-0.630111	0.10407	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.313851	0.17173	13.00	0.86165832599092684	0.16355	0.46263	0.27721	N	AEFDGBHCI	0.568478	0.57364	D	.	.	.	.	.	.	0.999999644465552	0.74766	0.645754	0.44609	0	0.702456	0.74545	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	4.57	-1.38	0.08554	0.624000	0.24156	3.227000	0.36886	-4.128000	0.00041	0.433000	0.26432	1.000000	0.68203	0.000000	0.00833	0.5877:0.0:0.4123:0.0	7.998	0.29443	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	627.83	54	chr19	1106630	.	G	A	627.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.2;DP=242;ExcessHet=0;FS=1.05;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=-0.693;SOR=0.46	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1620	6	0	1	0
chr19	1109708	1109708	T	C	exonic	SBNO2	.	nonsynonymous SNV	SBNO2:NM_001100122:exon24:c.A2927G:p.Q976R,SBNO2:NM_014963:exon27:c.A3098G:p.Q1033R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.00620634863352	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1227895757	4.13e-06	4.104e-06	2.736e-06	5.542e-06	0.0002	1.49e-06	9.8e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.711e-06	3.342e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.07846	T	0.554	0.09621	T	0.004	0.12183	B	0.008	0.15521	B	0.000003	0.62929	N	0.061296	0.875138	0.28143	N	0.895	0.22405	L	.	.	.	-1.37	0.33998	N	0.335	0.39659	-0.9614	0.38916	T	0.116	0.40964	T	9	0.1531614	0.28917	T	0.006206	0.16259	T	0.085	0.24743	0.45	0.51121	0.24896430686	0.24499	0.7757513593456974	0.77525	0.438269625736	0.43864	0.436184734106	0.30056	T	0.02647	0.19579	T	-0.253808	0.13636	T	-0.602354	0.12615	T	0.0269422084093094	0.01536	T	.	.	.	0.095980935	0.22599	0.067534104	0.13984	0.095980935	0.22599	0.067534104	0.13983	-11.634	0.83023	D	.	.	0.117	0.31931	B	.;.;.	.;.;.	2.624013	0.34107	19.53	0.86810828193496492	0.16788	0.64582	0.32454	D	AEFDBCI	0.147534	0.27123	N	-0.477489717927606	0.22820	1.221191	-0.39380483989258	0.25180	1.383248	0.999999240145624	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	4.45	2.35	0.28166	2.194000	0.42301	4.951000	0.46281	-0.251000	0.07141	1.000000	0.71638	1.000000	0.68203	0.596000	0.31288	0.0:0.1896:0.0:0.8104	6.877	0.23335	970	0.06235	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	508.45	40	chr19	1109708	.	T	C	508.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.674;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=2.03;SOR=0.627	GT:AD:DP:GQ:PL	0/1:26,25:51:99:519,0,643	6	0	1	0
chr19	1221961	1221961	A	T	exonic	STK11	.	nonsynonymous SNV	STK11:NM_000455:exon7:c.A875T:p.Y292F	Melanoma, malignant, somatic (3);Pancreatic cancer, Autosomal dominant, Somatic mutation, Multifactorial;Peutz-Jeghers syndrome, Autosomal dominant;Testicular tumor, somatic	.	.	.	.	.	.	.	.	.	YES	133163	Hereditary_cancer-predisposing_syndrome|Peutz-Jeghers_syndrome|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008280,MeSH:D010580,MedGen:C0031269,OMIM:175200,Orphanet:2869|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.405	0.0779963610485	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs587780011	4.256e-06	4.788e-06	5.609e-06	2.87e-06	5.525e-06	1.53e-06	1.01e-06	1.99e-06	1.31e-06	0	0	0	0	0	0	5.525e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	0.05002	T	0.691	0.05901	T	0.04	0.21238	B	0.059	0.26602	B	0.000001	0.62929	D	0.058504	1	0.81001	D	-0.095	0.04716	N	-1.64	0.82533	D	-1.23	0.31170	N	0.668	0.67650	-0.6898	0.60917	T	0.295	0.66631	T	10	0.3792882	0.54071	T	0.077996	0.72903	D	0.405	0.71791	0.399	0.42753	0.727573104856	0.72515	0.612109895168551	0.61142	0.0600406016189	0.06680	0.663718402386	0.61940	T	0.276488	0.71423	T	0.00895592	0.52882	T	-0.148672	0.59361	T	0.25715845823288	0.23190	T	0.971703	0.89738	D	0.27905607	0.50957	0.091586486	0.21541	0.27905607	0.50957	0.091586486	0.21541	-4.921	0.35970	T	0.13810752744038862	0.15253	0.217	0.44694	B	.;.	.;.	2.759251	0.36189	20.2	0.88464424506121286	0.17997	0.96729	0.70627	D	AEFDBCI	0.841804	0.75897	D	-0.400309920564727	0.25459	1.382136	-0.279614721480547	0.28770	1.60672	0.999999999993124	0.74766	0.712529	0.81865	0	0.702456	0.74545	0	0.635938	0.45252	0	0.691587	0.68394	0	.	.	3.56	3.56	0.39892	5.602000	0.67298	4.563000	0.43849	0.756000	0.94297	1.000000	0.71638	0.998000	0.33993	0.641000	0.32449	1.0:0.0:0.0:0.0	12.329	0.54353	958	0.09170	Protein kinase domain|Protein kinase domain|Protein kinase domain|Serine/Threonine kinase LKB1, catalytic domain;Protein kinase domain|Protein kinase domain|Protein kinase domain|Serine/Threonine kinase LKB1, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	774.27	34	chr19	1221961	.	A	T	774.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.237;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.8;ReadPosRankSum=1.94;SOR=0.746	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,965	5	0	1	1
chr19	1481959	1481959	C	T	exonic	PCSK4	.	nonsynonymous SNV	PCSK4:NM_017573:exon15:c.G2068A:p.D690N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.00683589225434	.	0.00119808	0.0008	0	0	0	0	2.522e-05	0	0.0057	0.0004592	71	154602	rs370118405	0.0003	0.0003	0.0002	0.0004	0.0043	0.0003	0.0003	0.0040	0.0038	6.018e-05	9.152e-05	0	2.547e-05	0	0	4.164e-05	0.0003	0.0043	0.0001	0.0001	0.0001	0.0002	0.0037	9.18e-05	7.731e-05	0.0024	0.0020	4.848e-05	0	0	0	0	0	0	1.473e-05	0	0.0037	0.313	0.13879	T	0.317	0.19304	T	0.0	0.02946	B	0.0	0.01387	B	0.026923	0.01658	N	3.408990	1	0.08975	N	-0.145	0.04423	N	-0.38	0.69027	T	-0.97	0.25770	N	0.043	0.01577	-0.9485	0.41228	T	0.178	0.52365	T	10	0.0046559274	0.00097	T	0.006836	0.18065	T	0.124	0.34239	0.165	0.06955	0.37281450598	0.36888	0.3608724919813332	0.36001	0.179901956931	0.20237	0.353044986725	0.18369	T	0.072882	0.34563	T	-0.617628	0.00114	T	-0.660795	0.08212	T	0.0195562883452976	0.00658	T	0.424058	0.11326	T	0.03332653	0.03529	0.02440635	0.00460	0.03332653	0.03529	0.02440635	0.00460	-4.719	0.33634	T	.	.	0.079	0.07130	B	.	.	-1.429029	0.00340	0.006	0.96029937049651037	0.28500	0.01000	0.03786	N	AEFBI	0.084019	0.17025	N	-1.31534894517679	0.03499	0.1563975	-1.42837563261018	0.02971	0.1377401	0.10019830018773	0.16348	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	3.65	-4.76	0.02994	-1.455000	0.02485	-4.432000	0.02159	-0.448000	0.05150	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1658:0.0:0.8342	11.476	0.49547	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	448.23	16	chr19	1481959	.	C	T	448.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.1;DP=168;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-0.319;SOR=0.804	GT:AD:DP:GQ:PL	0/0:29,0:29:81:0,81,1215	5	0	1	1
chr19	1506136	1506136	C	T	exonic	ADAMTSL5	.	nonsynonymous SNV	ADAMTSL5:NM_213604:exon12:c.G1295A:p.R432H,ADAMTSL5:NM_001367197:exon13:c.G1325A:p.R442H	.	416	1095	11	0	0	11	0.00499773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	0.0680847240193	0.0035	0.00199681	0.0043	0.0006	0.0052	0	0.0021	0.0062	0.0089	0.0004	0.0035381	547	154602	rs142558769	0.0046	0.0046	0.0046	0.0045	0.0053	0.0045	0.0044	0.0052	0.0051	0.0004	0.0047	0.0057	0	0.0016	0.0051	0.0053	0.0043	0.0004	0.0040	0.0040	0.0041	0.0039	0.0086	0.0037	0.0036	0.0074	0.0070	0.0007	0.0099	0.0086	0.0075	0	0.0026	0.0068	0.0054	0.0066	0.0002	0.002	0.72154	D	0.006	0.70582	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999909	0.81001	D	.	.	.	1.96	0.22270	T	-1.99	0.45949	N	0.586	0.60664	-1.0127	0.26070	T	0.085	0.33043	T	10	0.007984608	0.00181	T	0.068085	0.70350	D	0.317	0.63904	.	.	0.423360453849	0.41956	0.6258673513918784	0.62519	0.578952795248	0.53785	0.710147202015	0.68614	T	0.085677	0.37556	T	-0.381951	0.03029	T	-0.316295	0.42979	T	0.0567566217651395	0.06647	T	0.854814	0.54193	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.35540	B	.	.	5.057571	0.84280	28.3	0.99926886699584183	0.99103	0.97639	0.76082	D	AEFGBI	0.877001	0.80136	D	0.344107690941986	0.58429	4.015107	0.190326402248498	0.49315	3.136222	0.999992447582945	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	3.61	3.61	0.40494	5.987000	0.70248	7.537000	0.60015	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.314000	0.24830	0.0:1.0:0.0:0.0	12.436	0.54937	976	0.04745	Netrin module, non-TIMP type|Netrin domain|Netrin module, non-TIMP type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002528	0.000000	0.002717	0.002924	0.000000	0.008772	0.003086	0.000000	0.07143	810.49	35	chr19	1506136	.	C	T	810.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.79;DP=251;ExcessHet=0;FS=3.617;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-0.265;SOR=1.236	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1033	6	0	1	0
chr19	1506660	1506660	G	T	exonic	ADAMTSL5	.	nonsynonymous SNV	ADAMTSL5:NM_213604:exon11:c.C1044A:p.D348E,ADAMTSL5:NM_001367197:exon12:c.C1074A:p.D358E	.	.	.	.	.	.	.	.	0	0.008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00570913502868	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1453350300	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.711	0.04032	T	0.716	0.05416	T	.	.	.	.	.	.	0.057412	0.22483	N	0.482493	0.656739	0.81001	D	.	.	.	1.66	0.27486	T	0.29	0.04161	N	0.129	0.12341	-0.9757	0.35970	T	0.032	0.13679	T	10	0.046480685	0.03845	T	0.005709	0.14802	T	0.036	0.09122	.	.	0.101711395817	0.09552	0.11417039997115795	0.11345	0.0953326903171	0.10761	0.551795899868	0.46111	T	0.005412	0.04862	T	-0.294039	0.09234	T	-0.660143	0.08256	T	0.0359386958135618	0.02971	T	0.424058	0.11326	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.13969	B	.	.	1.338894	0.17450	13.17	0.36302989837599481	0.02327	0.07777	0.13775	N	AEFBI	0.192311	0.31948	N	-1.0439438747085	0.07707	0.3589443	-1.00646437717401	0.09643	0.4809173	0.991017370616871	0.32344	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	3.99	-1.52	0.08181	-0.030000	0.12257	-0.100000	0.11953	0.590000	0.31872	0.268000	0.25027	0.092000	0.22550	0.153000	0.20410	0.1115:0.5572:0.3313:0.0	7.286	0.25514	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	482.27	38	chr19	1506660	.	G	T	482.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.787;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=-1.232;SOR=0.83	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1033	5	0	1	1
chr19	1627370	1627370	C	T	exonic	TCF3	.	nonsynonymous SNV	TCF3:NM_001136139:exon6:c.G355A:p.G119S,TCF3:NM_001351778:exon6:c.G355A:p.G119S,TCF3:NM_001351779:exon6:c.G355A:p.G119S,TCF3:NM_003200:exon6:c.G355A:p.G119S	Agammaglobulinemia 8, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1158435	not_provided|TCF3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.038	.	0.0032	0.00179712	0.0010	0.0110	0.0007	0	0	0.0001	0	0.0002	0.0007244	112	154602	rs35936626	0.0003	0.0003	0.0003	0.0003	0.0086	0.0003	0.0002	0.0077	0.0074	0.0086	0.0003	0	7.564e-05	0	0.0002	5.31e-05	0.0006	8.169e-05	0.0022	0.0022	0.0023	0.0021	0.0076	0.0020	0.0019	0.0069	0.0066	0.0076	0	0.0006	0	0	0	0	5.88e-05	0.0014	0	0.063	0.37118	T	0.119	0.39190	T	0.139	0.35811	B	0.015	0.22546	B	0.672950	0.06047	N	1.206210	1	0.08975	N	0.71	0.18616	N	0.54	0.54911	T	-2.04	0.53898	N	0.18	0.28264	-1.0182	0.24301	T	0.059	0.24871	T	10	0.0039866865	0.00077	T	.	.	.	0.038	0.09825	.	.	0.326074293725	0.32213	0.21748503839075217	0.21664	0.036072396587	0.03809	0.467045307159	0.34275	T	0.445014	0.78820	T	-0.543338	0.00320	T	-0.54713	0.17601	T	0.00372460004735547	0.00039	T	0.782822	0.44137	T	0.060066372	0.12282	0.07379411	0.16076	0.04788793	0.08257	0.07437483	0.16262	-3.701	0.25054	T	0.2465317082936333	0.33387	0.059	0.02894	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.420370	0.02138	0.205	0.85404515132659331	0.15872	0.00382	0.01931	N	AEFBI	0.039499	0.05745	N	-1.25899390422182	0.04182	0.1882775	-1.40418719248045	0.03209	0.1492582	0.0407314099394842	0.14453	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.79	-4.95	0.02821	-0.879000	0.04296	-3.733000	0.02573	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.051000	0.15275	0.0:0.2194:0.1361:0.6444	6.726	0.22545	976	0.04745	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000507	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.000000	0.07143	890.49	30	chr19	1627370	.	C	T	890.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.7;DP=245;ExcessHet=0;FS=0.813;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-1.253;SOR=0.793	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1093	6	0	1	0
chr19	1788973	1788973	C	G	exonic	ATP8B3	.	nonsynonymous SNV	ATP8B3:NM_001178002:exon24:c.G2882C:p.R961P,ATP8B3:NM_138813:exon24:c.G2993C:p.R998P	.	407	1113	2	0	0	2	0.000897666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.435	.	.	0.00219649	0.0022	0.0003	0.0002	0.0003	0	2.183e-05	0.0017	0.0145	0.0013195	204	154602	rs542432405	0.0007	0.0007	0.0004	0.0010	0.0109	0.0006	0.0006	0.0103	0.0101	0	6.775e-05	0	5.052e-05	0	0.0003	6.303e-06	0.0009	0.0109	0.0004	0.0004	0.0002	0.0006	0.0120	0.0003	0.0003	0.0095	0.0087	0	0	0	0	0	0	0	1.47e-05	0	0.0120	0.232	0.26300	T	0.09	0.40267	T	0.997	0.70673	D	0.916	0.65201	D	0.000103	0.50451	D	0.136190	0.517873	0.31872	D	1.56	0.39490	L	-0.18	0.65747	T	-5.03	0.82575	D	0.852	0.85132	-0.3581	0.73319	T	0.307	0.67749	T	10	0.026508749	0.00815	T	.	.	.	0.435	0.74022	0.63	0.76588	0.769862474194	0.76775	0.8276361278462078	0.82721	0.52395535879	0.50099	0.457464456558	0.32963	T	0.252156	0.62251	T	-0.185837	0.22870	T	-0.030323	0.68347	D	0.143366999550157	0.16562	T	0.841416	0.51702	T	0.8702966	0.88885	0.83084464	0.90239	0.85695165	0.87856	0.7858091	0.87387	-10.012	0.73984	D	.	.	0.830	0.78721	P	.;.	.;.	5.004724	0.83070	27.9	0.99633565249304912	0.76203	0.99467	0.96390	D	ALL	0.856151	0.77335	D	0.474377630323312	0.65597	4.842755	0.46120397450963	0.65439	4.824032	0.999998730814359	0.74766	0.72623	0.87236	0	0.858003	0.99906	0	0.594344	0.31042	0	0.296957	0.05502	2	.	.	4.89	4.89	0.63387	2.645000	0.46287	4.025000	0.41286	0.575000	0.29119	0.998000	0.41325	0.945000	0.28875	0.992000	0.67800	0.0:0.9111:0.0:0.0889	10.689	0.45054	982	0.03397	P-type ATPase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1277.44	34	chr19	1788973	.	C	G	1277.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.552;DP=290;ExcessHet=0;FS=1.648;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=0.62;SOR=0.876	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1239	6	0	1	0
chr19	1796098	1796098	G	A	exonic	ATP8B3	.	nonsynonymous SNV	ATP8B3:NM_001178002:exon17:c.C1780T:p.R594C,ATP8B3:NM_138813:exon17:c.C1921T:p.R641C	.	.	.	.	.	.	.	.	.	.	.	2400520	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.674	0.0446197703885	8.1e-05	0.000199681	5.034e-05	0	8.657e-05	0	0	7.643e-05	0	0	5.17e-05	8	154602	rs145805623	6.983e-05	6.977e-05	6.403e-05	7.57e-05	0.0001	5.851e-05	5.461e-05	6.323e-05	5.825e-05	0.0001	4.473e-05	0	0	1.907e-05	0	7.645e-05	9.941e-05	3.478e-05	6.566e-05	6.561e-05	6.425e-05	6.714e-05	0.0001	3.514e-05	2.615e-05	4.765e-05	3.339e-05	4.812e-05	0	6.539e-05	0	0	0	0	0.0001	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999801	0.49283	D	4.225	0.97935	H	-0.83	0.74159	T	-7.59	0.95305	D	0.788	0.80473	0.762	0.93937	D	0.737	0.91001	D	10	0.91556114	0.90917	D	0.04462	0.61577	D	0.674	0.87965	.	.	0.851590140192	0.85016	0.7763669796703451	0.77586	0.511875505919	0.49248	0.670710325241	0.62940	T	0.863878	0.97002	D	0.137025	0.68040	D	0.195719	0.82891	D	0.998237490653992	0.93588	D	0.969703	0.89126	D	0.93929636	0.95176	0.8227185	0.89713	0.93929636	0.95176	0.8227185	0.89714	-8.097	0.62492	D	.	.	0.443	0.69431	A	.;.	.;.	4.585631	0.72484	25.8	0.99906400515085692	0.97726	0.54020	0.29513	D	ALL	0.573436	0.57662	D	0.577079685378828	0.71746	5.697935	0.346838215771355	0.58317	4.00158	0.999999999996814	0.74766	0.422189	0.06491	0	0.600433	0.49495	0	0.607795	0.38427	0	0.636	0.56748	0	.	.	4.8	3.75	0.42236	4.204000	0.58258	5.681000	0.49295	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.165000	0.20815	0.0:0.0:0.8455:0.1545	13.799	0.62678	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	483.44	52	chr19	1796098	.	G	A	483.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.09;DP=297;ExcessHet=0;FS=3.533;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.55;ReadPosRankSum=0.686;SOR=0.526	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1375	6	0	1	0
chr19	1827068	1827068	G	A	exonic	REXO1	.	nonsynonymous SNV	REXO1:NM_020695:exon2:c.C1721T:p.P574L	.	396	1125	1	0	0	1	0.000444247	.	.	.	2375089	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.00765966961364	.	.	0.0002	0	0	0	.	0.0003	0	0.0001	4.53e-05	7	154602	rs766639191	0.0005	0.0005	0.0006	0.0005	0.0015	0.0005	0.0005	0.0006	0.0006	0.0002	0.0004	0.0002	6.253e-05	0	0.0015	0.0007	0.0006	0.0003	0.0003	0.0003	0.0002	0.0003	0.0007	0.0002	0.0002	0.0004	0.0003	7.253e-05	0	0.0007	0.0003	0	0	0	0.0004	0.0005	0	0.03	0.45393	D	0.112	0.37037	T	0.002	0.09854	B	0.001	0.04355	B	0.006875	0.31745	N	0.304683	1	0.08975	N	0.51	0.13489	N	2.05	0.20664	T	-1.28	0.32185	N	0.219	0.24510	-1.0415	0.16860	T	0.025	0.10553	T	10	0.035160303	0.01753	T	0.00766	0.20325	T	0.022	0.04323	.	.	0.043077524339	0.03247	0.15422662104561646	0.15343	0.100892439271	0.11402	0.511700451374	0.40459	T	0.017334	0.14159	T	-0.275371	0.11164	T	-0.633328	0.10164	T	0.0134908417336021	0.00247	T	0.542746	0.18485	T	0.035125617	0.04074	0.038108926	0.03610	0.035125617	0.04074	0.038108926	0.03609	-5.104	0.37950	T	.	.	0.063	0.01512	B	.	.	1.091923	0.14757	11.30	0.88884890243552717	0.18334	0.29325	0.23791	N	ALL	0.061261	0.11698	N	-0.951055538719948	0.09669	0.4586316	-0.929324024467427	0.11405	0.5807622	0.999999996267667	0.74766	0.646311	0.45356	0	0.577304	0.33150	0	0.584781	0.30282	0	0.699875	0.68795	0	.	.	3.63	-0.076	0.13058	0.321000	0.19306	-0.124000	0.11690	-0.868000	0.02581	0.045000	0.21207	0.000000	0.08366	0.093000	0.17941	0.2563:0.0:0.4475:0.2963	3.031	0.05736	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004146	0.000000	0.000000	0.000000	0.000000	0.000000	0.009709	0.018519	0.08333	267.57	13	chr19	1827068	.	G	A	267.57	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.448;DP=53;ExcessHet=0;FS=7.16;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.58;ReadPosRankSum=0.931;SOR=0.704	GT:AD:DP:GQ:PL	0/0:9,0:9:12:0,12,233	5	0	1	1
chr19	1923156	1923156	C	T	exonic	SCAMP4	.	nonsynonymous SNV	SCAMP4:NM_001329539:exon5:c.C350T:p.S117L,SCAMP4:NM_001329540:exon5:c.C380T:p.S127L,SCAMP4:NM_079834:exon6:c.C482T:p.S161L	.	415	1057	47	3	0	53	0.0244578	.	.	.	2815119	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.063	0.0181471237354	0.0012	0.000998403	0.0044	0	0	0	0	0.0032	0	0.0089	0.0011707	181	154602	rs201575102	0.0017	0.0017	0.0015	0.0019	0.0109	0.0016	0.0016	0.0087	0.0082	0.0004	0.0028	0.0098	2.795e-05	4.059e-05	0.0109	0.0010	0.0030	0.0090	0.0012	0.0012	0.0012	0.0013	0.0085	0.0011	0.0010	0.0064	0.0057	0.0003	0	0.0017	0.0072	0	9.427e-05	0	0.0012	0.0028	0.0085	0.666	0.04616	T	0.662	0.08961	T	0.178	0.28960	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.47	0.36993	L	2.26	0.17596	T	-0.72	0.28703	N	0.507	0.55280	-1.0258	0.21821	T	0.032	0.13548	T	9	0.010071874	0.00225	T	0.018147	0.40116	T	0.063	0.18251	.	.	0.168933306366	0.16529	0.8777534529285248	0.87742	0.185573042328	0.20862	0.556228518486	0.46735	T	0.008228	0.07566	T	-0.505838	0.00530	T	-0.491987	0.23182	T	0.0164431426993568	0.00410	T	0.80282	0.45805	T	0.14684372	0.33596	0.11954387	0.28853	0.14684372	0.33596	0.11954387	0.28852	-4.346	0.46877	T	.	.	0.261	0.52385	B	.;.;.;.	.;.;.;.	2.687015	0.35067	19.80	0.95875198977648801	0.28060	0.67837	0.33578	D	AEFGBI	0.284643	0.39746	N	-0.370526598003247	0.26525	1.448272	-0.282638707139203	0.28670	1.60032	0.997094890971606	0.35269	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.9	4.9	0.63643	2.002000	0.40454	5.853000	0.50357	0.599000	0.40250	0.473000	0.26745	1.000000	0.68203	0.103000	0.18424	0.0:0.9128:0.0:0.0872	10.727	0.45273	988	0.01987	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009937	0.005051	0.005682	0.018072	0.000000	0.027273	0.009677	0.000000	0.07143	939.83	33	chr19	1923156	.	C	T	939.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.117;DP=249;ExcessHet=0;FS=4.336;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=2.38;SOR=0.336	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	6	0	1	0
chr19	2121043	2121043	C	T	exonic	AP3D1	.	nonsynonymous SNV	AP3D1:NM_001261826:exon14:c.G1300A:p.G434S,AP3D1:NM_001374799:exon14:c.G1300A:p.G434S,AP3D1:NM_003938:exon14:c.G1300A:p.G434S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	0.0856934389871	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1283931758	1.232e-05	1.3e-05	1.499e-05	9.633e-06	1.619e-05	7.7e-06	6.36e-06	1.012e-05	8.35e-06	0	0	0	0	0	0	1.619e-05	0	0	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.225	0.63025	M	2.73	0.11839	T	-5.8	0.88148	D	0.868	0.93018	-1.0355	0.18700	T	0.101	0.37341	T	10	0.84411955	0.83573	D	0.085693	0.74584	D	0.404	0.71714	.	.	0.607893666431	0.60474	0.7722418800678956	0.77174	1.93554706698	0.93189	0.834696650505	0.87283	D	0.45596	0.79491	T	0.0376875	0.56740	T	-0.183641	0.56183	T	0.992772042751312	0.83346	D	0.967803	0.88985	D	0.90170544	0.91536	0.83438236	0.90471	0.90170544	0.91538	0.83438236	0.90471	-12.466	0.87046	D	.	.	0.898	0.82647	P	.;.;.;.;.	.;.;.;.;.	4.390554	0.67755	25.1	0.99859914987012044	0.93820	0.98754	0.86424	D	AEFGBHI	0.935233	0.92979	D	0.669636610185504	0.77645	6.71464	0.604542672806776	0.75269	6.280827	0.999999642854295	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.67	4.67	0.58089	7.728000	0.83805	5.901000	0.50888	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.142000	0.20019	0.0:1.0:0.0:0.0	16.537	0.84223	946	0.12043	Clathrin/coatomer adaptor, adaptin-like, N-terminal;.;.;Clathrin/coatomer adaptor, adaptin-like, N-terminal;Clathrin/coatomer adaptor, adaptin-like, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2576.44	34	chr19	2121043	.	C	T	2576.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.47;DP=409;ExcessHet=0;FS=1.033;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=0.272;SOR=0.62	GT:AD:DP:GQ:PL	0/1:121,101:222:99:2587,0,2935	6	0	1	0
chr19	2222326	2222326	G	A	exonic	DOT1L	.	nonsynonymous SNV	DOT1L:NM_032482:exon24:c.G3157A:p.A1053T	.	432	1081	8	1	0	10	0.00460405	.	.	.	2815131	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.032	.	0.0007	0.00279553	0.0019	0.0003	0.0014	0.0001	0.0013	0.0024	0.0012	0.0022	0.0016947	262	154602	rs144165419	0.0011	0.0011	0.0010	0.0013	0.0116	0.0011	0.0011	0.0094	0.0086	0.0003	0.0018	0.0070	7.558e-05	0.0013	0.0116	0.0009	0.0018	0.0021	0.0013	0.0013	0.0014	0.0012	0.0024	0.0012	0.0011	0.0017	0.0015	0.0001	0	0.0024	0.0075	0.0004	0.0017	0	0.0013	0.0047	0.0019	0.28	0.15509	T	0.356	0.17166	T	0.0	0.02946	B	0.001	0.04355	B	0.311233	0.04016	N	1.390360	1	0.08975	N	0.425	0.12573	N	1.87	0.24085	T	-0.35	0.12847	N	0.058	0.02964	-0.9918	0.32141	T	0.027	0.11485	T	10	0.0050335526	0.00108	T	.	.	.	0.032	0.07718	.	.	0.397201501934	0.39331	0.10979026081044796	0.10908	0.317085791368	0.33956	0.366134017706	0.20276	T	0.053497	0.29459	T	-0.569177	0.00224	T	-0.596527	0.13106	T	0.00228865699688291	0.00024	T	0.492951	0.15215	T	0.03326122	0.03511	0.037221584	0.03330	0.03326122	0.03511	0.037221584	0.03330	-4.001	0.23819	T	.	.	0.061	0.01179	B	.	.	-0.720409	0.01274	0.067	0.87450411866373268	0.17236	0.09293	0.15078	N	AEFDBCI	0.039300	0.05688	N	-1.25827270334809	0.04191	0.1887156	-1.34269773482432	0.03892	0.1825118	0.00367562534620178	0.10231	0.712529	0.81865	0	0.702456	0.74545	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.58	-4.01	0.03775	0.205000	0.17154	-2.133000	0.04164	-0.250000	0.07158	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3563:0.1249:0.2685:0.2504	0.566	0.00642	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.009073	0.015152	0.013624	0.005848	0.000000	0.000000	0.015337	0.003788	0.07143	1241.45	34	chr19	2222326	.	G	A	1241.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.245;DP=293;ExcessHet=0;FS=7.064;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0;SOR=1.186	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1012	6	0	1	0
chr19	2234005	2234005	G	A	exonic	PLEKHJ1	.	nonsynonymous SNV	PLEKHJ1:NM_001300836:exon5:c.C377T:p.T126M,PLEKHJ1:NM_018049:exon5:c.C377T:p.T126M	.	419	1094	9	0	0	9	0.0040965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.036066582249	0.0004	.	0.0005	0	0.0005	0.0001	0	0.0007	0.0011	0.0006	0.0004592	71	154602	rs146362675	0.0005	0.0005	0.0005	0.0005	0.0019	0.0005	0.0005	0.0011	0.0008	2.987e-05	0.0005	0.0082	2.519e-05	0	0.0019	0.0003	0.0010	0.0005	0.0004	0.0004	0.0004	0.0004	0.0004	0.0003	0.0003	0.0003	0.0003	7.222e-05	0	0.0002	0.0075	0	0	0	0.0004	0.0009	0.0004	0.001	0.78490	D	0.003	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000061	0.52346	D	0.123637	0.999784	0.81001	D	1.665	0.42610	L	.	.	.	-3.84	0.72240	D	0.45	0.68777	-0.5748	0.65823	T	0.256	0.62665	T	9	0.011515319	0.00251	T	0.036067	0.56753	D	0.358	0.67872	.	.	0.461759001683	0.45799	0.5013882579842461	0.50060	0.471409030193	0.46407	0.603456139565	0.53392	T	0.207166	0.57180	T	-0.134743	0.30732	T	-0.095066	0.63777	T	0.144451096653938	0.16653	T	0.743726	0.74231	T	0.42522934	0.62438	0.4331254	0.66875	0.42522934	0.62438	0.4331254	0.66875	-10.806	0.78583	D	.	.	0.613	0.81715	P	.;.;.;.;.	.;.;.;.;.	5.497494	0.91549	32	0.99892139906335475	0.96589	0.96181	0.67906	D	AEFGBCI	0.877340	0.80192	D	0.463901517489211	0.64996	4.767244	0.403228853956552	0.61767	4.381385	0.999999995531651	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	4.05	2.94	0.33188	8.480000	0.90276	11.460000	0.92824	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.205000	0.22041	0.0:0.1669:0.8331:0.0	12.656	0.56149	970	0.06235	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	1883.44	33	chr19	2234005	.	G	A	1883.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2;DP=337;ExcessHet=0;FS=4.722;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=0.17;SOR=1.004	GT:AD:DP:GQ:PL	0/1:79,75:154:99:1894,0,1867	6	0	1	0
chr19	2433957	2433957	C	T	exonic	LMNB2	.	nonsynonymous SNV	LMNB2:NM_032737:exon8:c.G1351A:p.V451I	.	390	1128	4	0	0	4	0.00176991	.	.	.	570621	Lipodystrophy,_partial,_acquired,_susceptibility_to|Progressive_myoclonic_epilepsy_type_9	MONDO:MONDO:0100476,MedGen:C3887501,OMIM:608709|MONDO:MONDO:0014685,MedGen:C4225289,OMIM:616540,Orphanet:457265	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.022	0.0276272879909	.	0.000199681	0.0001	0	0.0008	0	0	9.739e-05	0	0	0.00011	17	154602	rs551737995	9.527e-05	9.508e-05	9.82e-05	9.23e-05	0.0006	8.217e-05	7.731e-05	0.0005	0.0004	0.0005	0.0006	0.0004	5.039e-05	0	0.0005	5.847e-05	0.0002	0	6.563e-05	6.561e-05	7.707e-05	5.369e-05	0.0003	3.513e-05	2.613e-05	0.0001	8.276e-05	2.405e-05	0	0.0003	0	0.0002	0	0	4.409e-05	0	0	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	0.029196	0.25490	N	0.382679	0.964468	0.25980	N	.	.	.	-1.78	0.83737	D	.	.	.	0.11	0.09631	-1.0374	0.18109	T	0.049	0.20829	T	8	0.022878438	0.00583	T	0.027627	0.50416	D	0.022	0.04323	.	.	0.184605227958	0.18053	0.10513336517012888	0.10443	0.201101557789	0.22511	0.40312564373	0.25504	T	0.252689	0.62311	T	-0.389042	0.02729	T	-0.427858	0.30178	T	0.0252373380606201	0.01303	T	0.451355	0.12777	T	0.037574083	0.04843	0.050125677	0.07803	0.037574083	0.04843	0.050125677	0.07803	-4.743	0.33920	T	.	.	0.078	0.07036	B	.	.	1.046573	0.14277	10.85	0.5887755014941124	0.06093	0.49335	0.28410	N	AEFDBCI	0.274050	0.38933	N	-0.845009022039314	0.12172	0.5917483	-0.793236002877398	0.14661	0.767186	2.99393587335253E-4	0.06406	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	3.79	2.73	0.31266	2.209000	0.42445	0.415000	0.18155	0.520000	0.23804	0.053000	0.21524	0.000000	0.08366	0.051000	0.15275	0.0:0.7974:0.2026:0.0	10.249	0.42538	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	838.63	40	chr19	2433957	.	C	T	838.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.947;DP=253;ExcessHet=0;FS=0.908;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=0.201;SOR=0.879	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1021	6	0	1	0
chr19	3179282	3179282	G	A	exonic	S1PR4	.	nonsynonymous SNV	S1PR4:NM_003775:exon1:c.G490A:p.G164S	.	384	1133	5	0	0	5	0.00220167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0576804362786	0.0006	0.000798722	0.0005	0.0003	0	0.0044	0	0.0002	0.0012	0.0002	0.0004334	67	154602	rs150230356	0.0003	0.0003	0.0003	0.0003	0.0037	0.0003	0.0003	0.0032	0.0031	0.0003	0.0004	0.0002	0.0037	1.924e-05	0.0009	0.0002	0.0006	0.0002	0.0004	0.0004	0.0005	0.0003	0.0039	0.0003	0.0003	0.0026	0.0021	0.0001	0	0.0013	0	0.0039	0	0.0034	0.0002	0.0019	0	0.055	0.38407	T	0.492	0.11479	T	0.491	0.36960	P	0.079	0.28749	B	0.001893	0.37740	N	0.256132	0.994873	0.23423	N	0.805	0.20218	L	-0.6	0.71662	T	0.03	0.06612	N	0.078	0.05287	-0.9622	0.38761	T	0.177	0.52272	T	10	0.0030629039	0.00051	T	0.05768	0.67052	D	0.112	0.31546	.	.	0.294470080753	0.29051	0.44736165295158853	0.44654	0.451054849121	0.44863	0.516847848892	0.41183	T	0.053764	0.29535	T	-0.543714	0.00318	T	-0.554623	0.16886	T	0.0019070373556289	0.00019	T	0.513749	0.16498	T	0.07540871	0.16988	0.08276353	0.18913	0.07540871	0.16988	0.08276353	0.18913	-5.307	0.40012	T	.	.	0.114	0.22500	B	.	.	1.420859	0.18374	13.70	0.88130775620862933	0.17739	0.12523	0.17321	N	ALL	0.091910	0.18611	N	-1.22329145734571	0.04664	0.2109726	-1.30543795072804	0.04359	0.2054547	0.999999999475315	0.74766	0.648878	0.45929	0	0.52208	0.09955	0	0.596394	0.31383	0	0.562822	0.20929	0	.	.	4.17	0.526	0.16271	-0.120000	0.10633	0.966000	0.23025	-0.209000	0.08382	0.000000	0.06391	0.268000	0.24029	0.512000	0.29290	0.3074:0.0:0.6926:0.0	9.803	0.39945	988	0.01987	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.07143	847.44	38	chr19	3179282	.	G	A	847.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.732;DP=270;ExcessHet=0;FS=1.839;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.411;SOR=0.951	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1294	6	0	1	0
chr19	3179886	3179886	G	T	exonic	S1PR4	.	nonsynonymous SNV	S1PR4:NM_003775:exon1:c.G1094T:p.R365L	.	426	1071	23	2	0	27	0.0124481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	.	0.0051	0.00758786	0.0073	0.0009	0.0068	0.0169	0.0015	0.0072	0.0092	0.0097	0.0070892	1096	154602	rs3746072	0.0078	0.0078	0.0077	0.0080	0.0279	0.0077	0.0077	0.0265	0.0260	0.0008	0.0083	0.0076	0.0279	0.0027	0.0100	0.0074	0.0079	0.0099	0.0067	0.0067	0.0067	0.0066	0.0188	0.0063	0.0062	0.0158	0.0147	0.0014	0	0.0104	0.0089	0.0188	0.0023	0	0.0085	0.0109	0.0096	0.111	0.29029	T	0.357	0.17115	T	0.956	0.54666	P	0.421	0.45113	B	0.429652	0.12764	N	0.704329	0.999997	0.08975	N	2.24	0.63355	M	-1.51	0.81399	D	-0.9	0.24244	N	0.169	0.17966	-0.8482	0.52093	T	0.191	0.54286	T	10	0.0041588843	0.00082	T	.	.	.	0.317	0.63904	.	.	0.673373174604	0.67061	0.564520091980595	0.56379	0.520053127806	0.49812	0.707280218601	0.68198	T	0.11485	0.43298	T	-0.294597	0.09179	T	-0.181664	0.56369	T	0.0259824680036602	0.01403	T	0.644036	0.25562	T	0.18535873	0.39896	0.22214901	0.47049	0.18535873	0.39895	0.22214901	0.47048	-2.998	0.10159	T	.	.	0.253	0.48725	B	.	.	2.147419	0.27353	17.43	0.98146009376575305	0.38647	0.13145	0.17689	N	AEFDBHCI	.	.	.	-0.388218661261633	0.25887	1.408693	-0.494609765323304	0.22301	1.210653	0.999999999070413	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.94	3.94	0.44807	0.307000	0.19048	8.054000	0.76369	0.575000	0.29119	0.000000	0.06391	1.000000	0.68203	0.046000	0.14843	0.0:0.1823:0.8177:0.0	11.574	0.50105	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.005051	0.004076	0.008772	0.050000	0.008621	0.018293	0.026515	0.07143	975.46	38	chr19	3179886	.	G	T	975.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.93;DP=270;ExcessHet=0;FS=2.936;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-0.866;SOR=0.414	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1294	6	0	1	0
chr19	3543599	3543599	G	A	exonic	C19orf71	.	nonsynonymous SNV	C19orf71:NM_001135580:exon3:c.G367A:p.V123I	.	427	1066	27	2	0	31	0.0143319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	0.0044	0.00499201	0.0138	0	0.0071	0	0	0.0092	0.0123	0.0230	0.0021604	334	154602	rs201749907	0.0046	0.0044	0.0040	0.0051	0.0188	0.0045	0.0044	0.0180	0.0177	0.0007	0.0020	0.0238	0	0.0006	0.0126	0.0035	0.0050	0.0188	0.0039	0.0039	0.0039	0.0039	0.0161	0.0036	0.0035	0.0132	0.0122	0.0008	0	0.0015	0.0280	0.0002	0.0003	0.0034	0.0051	0.0048	0.0161	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	0.693564	0.06160	N	1.202900	1	0.08975	N	-1.01	0.01154	N	1.75	0.26152	T	0.03	0.06612	N	0.066	0.03841	-1.0149	0.25368	T	0.011	0.04042	T	10	0.001954198	0.00027	T	.	.	.	0.004	0.00165	.	.	0.0138822411134	0.00435	0.020375539965704063	0.01990	.	.	.	.	.	7.72E-4	0.00369	T	-0.706015	0.00034	T	-0.771981	0.02704	T	0.00593379321502835	0.00065	T	0.533947	0.17813	T	0.019139629	0.00439	0.020590123	0.00144	0.019139629	0.00439	0.020590123	0.00144	-3.916	0.22542	T	.	.	0.079	0.07130	B	.	.	-1.276562	0.00458	0.010	0.90003719366668511	0.19294	0.01947	0.05921	N	AEFDBCI	0.028970	0.02648	N	-2.19496529212612	0.00079	0.003372802	-2.22034743869049	0.00101	0.00442548	0.999999794511618	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.592323	0.36904	0	.	.	4.41	-8.83	0.00696	-2.207000	0.01314	-2.702000	0.03451	-0.282000	0.06404	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.1833:0.3018:0.5149:0.0	9.454	0.37910	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007921	0.000000	0.008130	0.000000	0.000000	0.000000	0.010638	0.026316	0.07143	498.83	37	chr19	3543599	.	G	A	498.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.08;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=0.094;SOR=0.611	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1156	6	0	1	0
chr19	3770925	3770925	C	T	exonic	RAX2	.	nonsynonymous SNV	RAX2:NM_001319074:exon3:c.G251A:p.R84H,RAX2:NM_032753:exon3:c.G251A:p.R84H	Cone-rod dystrophy 11, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1351865	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.778	0.292857392958	.	0.000199681	5.858e-05	0	0	0	0	0.0002	0	0	1.29e-05	2	154602	rs573043030	1.704e-05	2.873e-05	1.407e-05	2.006e-05	3.672e-05	1.153e-05	9.69e-06	1.112e-05	8.96e-06	0	0	0	0	2.868e-05	0	1.739e-05	1.696e-05	3.672e-05	1.97e-05	1.968e-05	2.57e-05	1.343e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0.0002	.	.	.	0.002	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	0.002327	0.36766	N	0.000000	1	0.81001	D	3.605	0.93784	H	-4.04	0.96465	D	.	.	.	0.2	0.22870	1.095	0.99452	D	0.948	0.98294	D	10	0.45202273	0.58758	T	0.292857	0.90623	D	0.778	0.92583	0.479	0.55823	0.711555273142	0.70903	0.6835687982841732	0.68295	0.0562627764879	0.06214	0.664375782013	0.62035	T	0.869951	0.97183	D	0.320349	0.84495	D	0.222382	0.84294	D	0.947265148162842	0.62644	D	0.89491	0.63503	D	0.50832015	0.67581	0.5103737	0.71705	0.50832015	0.67582	0.5103737	0.71706	-11.259	0.81060	D	0.4642040849125317	0.54585	0.828	0.78969	P	.;.	.;.	3.533346	0.49582	22.8	0.9994807173521576	0.99923	0.45139	0.27472	N	AEFDGBCI	0.311379	0.41713	N	0.578215403791868	0.71815	5.708821	0.426183241635942	0.63203	4.549283	0.999997589803311	0.74766	0.615755	0.39536	0	0.547309	0.14657	0	0.618376	0.41669	0	0.604944	0.38103	0	.	.	3.48	3.48	0.38946	1.340000	0.33501	0.637000	0.20283	0.505000	0.23025	0.995000	0.38783	0.772000	0.26708	0.900000	0.43643	0.0:1.0:0.0:0.0	13.948	0.63608	976	0.04745	Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	371.44	32	chr19	3770925	.	C	T	371.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.201;DP=219;ExcessHet=0;FS=3.102;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=0.685;SOR=0.307	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1255	6	0	1	0
chr19	3819199	3819199	C	A	exonic	ZFR2	.	nonsynonymous SNV	ZFR2:NM_015174:exon12:c.G1777T:p.V593F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.024719058728	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1355352310	1.405e-06	2.736e-06	0	2.828e-06	2.387e-05	2.3e-07	9e-08	3.96e-06	1.48e-06	0	0	0	0	0	0	0	0	2.387e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.971	0.57185	D	0.857	0.61067	P	0.000371	0.45194	U	0.087855	0.771645	0.34158	D	2.99	0.85699	M	2.49	0.14531	T	-4.24	0.76015	D	0.713	0.71587	-1.0943	0.04854	T	0.073	0.29707	T	10	0.6224089	0.68052	D	0.024719	0.47706	T	0.218	0.51265	0.447	0.50629	0.239305524855	0.23518	0.7702207741948882	0.76971	0.450566886049	0.44827	0.523794531822	0.42161	T	0.229105	0.59484	T	-0.11526	0.33902	T	-0.295683	0.45177	T	0.905906200408936	0.55977	D	0.985051	0.94842	D	0.30100784	0.52995	0.25975153	0.51728	0.30100784	0.52995	0.25975153	0.51727	-11.635	0.83028	D	.	.	0.739	0.74599	P	.	.	2.152655	0.27418	17.46	0.99201720197230492	0.55291	0.74668	0.36533	D	AEFBI	0.153192	0.27800	N	-0.150559680712262	0.35211	2.019605	-0.392120227010747	0.25230	1.386286	0.0199400579971495	0.13210	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.82	0.519	0.16233	0.315000	0.19200	0.090000	0.14504	-0.177000	0.10537	0.091000	0.22601	0.003000	0.18671	0.001000	0.02609	0.0:0.4794:0.1912:0.3293	3.598	0.07558	976	0.04745	DZF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	987.63	26	chr19	3819199	.	C	A	987.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.7;DP=273;ExcessHet=0;FS=0.796;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=-0.37;SOR=0.793	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	6	0	1	0
chr19	3938631	3938631	G	A	exonic	NMRK2	.	nonsynonymous SNV	NMRK2:NM_001375467:exon4:c.G195A:p.M65I,NMRK2:NM_001375468:exon4:c.G210A:p.M70I,NMRK2:NM_001375469:exon4:c.G195A:p.M65I,NMRK2:NM_001289117:exon5:c.G210A:p.M70I,NMRK2:NM_170678:exon5:c.G195A:p.M65I	.	.	.	.	.	.	.	.	.	.	.	3566306	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.357	0.0160768536686	.	.	7.842e-05	0	0	0	0	0	0	0.0006	6.47e-05	10	154602	rs750398158	2.553e-05	2.668e-05	1.508e-05	3.612e-05	0.0004	1.884e-05	1.644e-05	0.0003	0.0002	0	0	0	0	0	0.0002	2.716e-06	3.346e-05	0.0004	6.574e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.006	0.61437	D	0.009	0.69154	D	0.997	0.70673	D	0.997	0.86255	D	0.000000	0.84330	U	0.000000	0.999715	0.48481	D	3.53	0.93071	H	1.03	0.40469	T	-3.47	0.67824	D	0.828	0.82358	-0.6574	0.62390	T	0.224	0.58805	T	10	0.7615986	0.76387	D	0.016077	0.37157	T	0.357	0.67782	0.734	0.86719	0.59817006922	0.59497	0.8487138666302303	0.84832	0.399077873608	0.40946	0.72411853075	0.70647	T	0.263173	0.63483	T	-0.184803	0.23024	T	-0.190854	0.55511	T	0.873034775257111	0.52290	D	0.927307	0.74555	D	0.5559309	0.70285	0.387787	0.63638	0.5559309	0.70286	0.387787	0.63638	-12.578	0.90811	D	.	.	0.971	0.89696	P	.;.;.;.	.;.;.;.	4.746152	0.76591	26.5	0.9970055726906859	0.80591	0.90578	0.51870	D	AEFDBI	0.809646	0.73310	D	0.566356082895439	0.71084	5.597414	0.470022366040075	0.66011	4.897059	0.984453001188774	0.30721	0.634777	0.41761	0	0.78372	0.99691	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	3.5	3.5	0.39181	8.496000	0.90320	10.435000	0.83342	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.840000	0.39645	0.0:0.0:1.0:0.0	10.370	0.43229	940	0.13648	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1627.83	35	chr19	3938631	.	G	A	1627.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.579;DP=308;ExcessHet=0;FS=0.701;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=0.207;SOR=0.569	GT:AD:DP:GQ:PL	0/1:51,68:119:99:1638,0,1368	6	0	1	0
chr19	3979340	3979340	T	C	exonic	EEF2	.	nonsynonymous SNV	EEF2:NM_001961:exon11:c.A1702G:p.I568V	.	.	.	.	.	.	.	.	.	.	.	797854	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.080	0.00665557996524	.	.	2.481e-05	0	0	0	0	4.52e-05	0	0	1.94e-05	3	154602	rs773849734	7.594e-05	7.661e-05	7.897e-05	7.289e-05	0.0002	6.424e-05	6.005e-05	7.861e-05	7.345e-05	0	6.71e-05	0	0	0	0.0002	9.354e-05	4.968e-05	0	2.629e-05	2.627e-05	2.57e-05	2.691e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0.0002	0.427	0.09629	T	0.65	0.06738	T	0.001	0.07471	B	0.002	0.06944	B	0.000000	0.84330	D	0.050269	1	0.81001	D	0.68	0.16426	N	-0.44	0.69777	T	0.23	0.04613	N	0.224	0.25130	-0.9551	0.40078	T	0.146	0.47056	T	10	0.14545843	0.27591	T	0.006656	0.17557	T	0.080	0.23350	.	.	0.463230170304	0.45947	0.7963157139649278	0.79584	.	.	0.812792539597	0.83921	D	0.111383	0.42683	T	-0.178731	0.23925	T	-0.318665	0.42720	T	0.0774353295564651	0.09655	T	0.966103	0.87544	D	0.12625946	0.29577	0.10391204	0.24943	0.12625946	0.29576	0.10391204	0.24943	-6.915	0.53410	T	.	.	0.122	0.25396	B	.	.	3.191405	0.43364	21.7	0.98121981521557822	0.38440	0.97131	0.72871	D	AEFDGBHCI	0.799001	0.72539	D	-0.18559716330534	0.33733	1.917222	0.052393314903879	0.42188	2.547413	0.999999998629879	0.74766	0.675202	0.55065	0	0.67197	0.64623	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.45	5.45	0.79688	5.060000	0.64142	6.201000	0.54892	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	14.671	0.68553	804	0.43891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	750.44	33	chr19	3979340	.	T	C	750.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.42;DP=241;ExcessHet=0;FS=2.296;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=0.778;SOR=1.141	GT:AD:DP:GQ:PL	0/1:28,30:58:99:761,0,649	6	0	1	0
chr19	4217072	4217072	A	C	exonic	ANKRD24	.	nonsynonymous SNV	ANKRD24:NM_133475:exon18:c.A1912C:p.M638L	.	411	1109	1	1	0	3	0.00135074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00504640218788	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs776373172	1.026e-05	1.026e-05	9.53e-06	1.1e-05	5.797e-05	6.16e-06	4.89e-06	2.194e-05	1.43e-05	0	2.238e-05	0	0	0	0	8.095e-06	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	0.30800	T	0.537	0.17696	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.65	0.28391	T	-0.02	0.07299	N	0.264	0.30118	-0.9979	0.30507	T	0.035	0.15247	T	9	0.05561441	0.06105	T	0.005046	0.12753	T	0.017	0.02790	0.155	0.05858	0.0611884634855	0.05136	0.12376812244036062	0.12302	0.241115186296	0.26640	0.250579118729	0.03829	T	5.18E-4	0.07868	T	-0.41468	0.01851	T	-0.732805	0.04201	T	0.0267202405000516	0.01505	T	0.384162	0.09403	T	0.1918849	0.40835	0.100574814	0.24050	0.1918849	0.40835	0.100574814	0.24050	-4.558	0.31982	T	.	.	0.120	0.32324	B	.;.;.;.	.;.;.;.	0.200429	0.05855	2.294	0.72437086918262705	0.09973	0.00357	0.01833	N	AEFBHCI	0.099465	0.20021	N	-1.20272585110442	0.04960	0.2250221	-1.2149644846182	0.05669	0.2707578	1.26733480262554E-6	0.01202	0.634777	0.41761	0	0.633656	0.55848	0	0.643519	0.47002	0	0.604944	0.38103	0	.	.	3.04	0.441	0.15789	-0.336000	0.07908	0.297000	0.16936	0.253000	0.18341	0.004000	0.16614	0.012000	0.20211	0.368000	0.26066	0.7639:0.2361:0.0:0.0	10.028	0.41256	922	0.19044	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1047.44	80	chr19	4217072	.	A	C	1047.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.21;DP=449;ExcessHet=0;FS=2.988;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.712;SOR=0.764	GT:AD:DP:GQ:PL	0/0:70,0:70:99:0,120,1800	6	0	1	0
chr19	4284883	4284883	C	-	exonic	SHD	.	frameshift deletion	SHD:NM_020209:exon4:c.695delC:p.L233Cfs*13,SHD:NM_001372011:exon5:c.695delC:p.L233Cfs*13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1418131173	1.375e-06	1.368e-06	1.367e-06	1.384e-06	0.0003	2.3e-07	9e-08	6.109e-05	2.528e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	51.4	31	chr19	4284882	.	GC	G	51.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=195;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.13;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1084	6	0	1	0
chr19	4306312	4306312	C	T	exonic	FSD1	.	nonsynonymous SNV	FSD1:NM_001330429:exon3:c.C226T:p.R76C,FSD1:NM_024333:exon3:c.C226T:p.R76C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.198903453677	.	.	1.65e-05	0	0	0	0	1.501e-05	0	6.057e-05	6.5e-06	1	154602	rs746789026	6.157e-06	6.84e-06	5.445e-06	6.876e-06	5.974e-05	2.9e-06	2.1e-06	9.89e-06	3.7e-06	5.974e-05	2.236e-05	0	0	0	0	3.597e-06	0	2.319e-05	6.574e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.899	0.63802	P	0.000008	0.62929	N	0.064020	0.999234	0.46406	D	1.935	0.51832	L	0.86	0.46777	T	-4.97	0.82063	D	0.756	0.75466	-0.8045	0.54879	T	0.192	0.54448	T	10	0.7014946	0.72472	D	0.198903	0.86621	D	0.307	0.62838	0.452	0.51448	0.276254252017	0.27237	0.7324857573764615	0.73193	1.35464816004	0.84160	0.832290530205	0.86914	D	0.295772	0.66843	T	0.0111083	0.53177	T	-0.124966	0.61393	T	0.968610346317291	0.68304	D	0.949205	0.80472	D	0.62604904	0.74087	0.39776722	0.64383	0.62604904	0.74088	0.39776722	0.64383	-10.626	0.77568	D	.	.	0.539	0.66308	A	.;.	.;.	5.319182	0.89281	29.9	0.99904550041424145	0.97576	0.90142	0.51089	D	AEFDBI	0.603607	0.59502	D	0.386393182972379	0.60684	4.260047	0.317569202343109	0.56572	3.820695	0.00245080001144556	0.09436	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.48	2.18	0.26813	3.261000	0.51233	2.038000	0.30286	0.535000	0.24933	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.1801:0.7193:0.0:0.1006	6.446	0.21075	934	0.15400	B-box, C-terminal;B-box, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	912.63	37	chr19	4306312	.	C	T	912.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.819;DP=262;ExcessHet=0;FS=0.872;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-1.273;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1281:.	6	0	1	0
chr19	4501985	4501985	C	T	exonic	HDGFL2	.	nonsynonymous SNV	HDGFL2:NM_001001520:exon16:c.C1991T:p.S664L,HDGFL2:NM_001348169:exon16:c.C2063T:p.S688L,HDGFL2:NM_032631:exon16:c.C1988T:p.S663L	.	339	1181	2	0	0	2	0.000846024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0444042716183	0.0002	.	7.409e-05	0	0	0	0	0.0002	0	0	3.88e-05	6	154602	rs117648883	0.0004	0.0003	0.0003	0.0004	0.0004	0.0003	0.0003	0.0004	0.0004	0	3.787e-05	0	2.818e-05	0.0001	0.0004	0.0004	0.0003	1.338e-05	0.0002	0.0002	0.0002	9.4e-05	0.0003	0.0001	9.696e-05	0.0002	0.0002	7.217e-05	0	6.534e-05	0	0	9.414e-05	0	0.0003	0	0	.	.	.	0.009	0.66756	D	.	.	.	.	.	.	0.316222	0.14348	N	0.574339	0.607134	0.32589	D	1.1	0.28011	L	.	.	.	.	.	.	0.602	0.62018	-0.6124	0.64304	T	0.178	0.52365	T	10	0.2332136	0.40334	T	0.044404	0.61472	D	.	.	.	.	0.184605227958	0.18053	0.06688448220070385	0.06626	.	.	0.537846446037	0.44141	T	0.019867	0.15749	T	-0.240659	0.15265	T	-0.265393	0.48285	T	0.399073600769043	0.28907	T	0.741226	0.36032	T	0.04210746	0.06324	0.0705318	0.14995	0.04210746	0.06324	0.0705318	0.14995	-4.584	0.31970	T	.	.	0.087	0.53119	B	.;.;.	.;.;.	3.420744	0.47492	22.5	0.99692808013625689	0.80044	0.95590	0.65330	D	AEFDBI	0.642260	0.61930	D	0.289987897100242	0.55640	3.728044	0.257577663273388	0.53080	3.478968	0.017109784361779	0.12912	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.27	4.27	0.50009	4.936000	0.63206	3.945000	0.40631	0.596000	0.33519	1.000000	0.71638	0.999000	0.35428	0.288000	0.24212	0.0:1.0:0.0:0.0	12.207	0.53667	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	498.53	39	chr19	4501985	.	C	T	498.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.134;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=0.165;SOR=0.56	GT:AD:DP:GQ:PL	0/1:25,23:48:99:509,0,620	6	0	1	0
chr19	4511759	4511759	-	CA	exonic	PLIN4	.	frameshift insertion	PLIN4:NM_001367868:exon5:c.2200_2201insTG:p.C734Lfs*5	.	402	1087	33	0	0	33	0.0149524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.23e-05	5	154602	rs1370690128	1.388e-06	0.0012	2.762e-06	0	1.814e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.814e-06	0	0	7.242e-05	0.0009	7.724e-05	6.737e-05	0.0004	3.979e-05	3.133e-05	6.847e-05	2.865e-05	9.638e-05	0	0	0	0.0004	0.0002	0	4.42e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	306.4	149	chr19	4511759	.	C	CCA	306.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.66;DP=2444;ExcessHet=0;FS=18;MLEAC=1;MLEAF=0.071;MQ=57.39;MQRankSum=-11.33;QD=2.06;ReadPosRankSum=-4.817;SOR=2.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:620,0:620:99:.:.:0,120,1800:.	6	0	1	0
chr19	4511762	4511763	AC	-	exonic	PLIN4	.	frameshift deletion	PLIN4:NM_001367868:exon5:c.2197_2198del:p.V733Lfs*30	.	404	1090	22	0	6	28	0.00999092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs1471862394	0	0.0006	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	2.67e-05	0.0006	3.907e-05	1.369e-05	7.299e-05	8.24e-06	5.21e-06	1.935e-05	1.036e-05	7.299e-05	0	0	0	0	0	0	1.483e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	120.4	151	chr19	4511761	.	GAC	G	120.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.904;DP=2451;ExcessHet=0;FS=18.17;MLEAC=1;MLEAF=0.071;MQ=57.98;MQRankSum=-11.28;QD=0.8;ReadPosRankSum=-4.284;SOR=3.321	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:620,0:620:99:.:.:0,120,1800:.	6	0	1	0
chr19	4511957	4511957	-	ACA	exonic	PLIN4	.	nonframeshift insertion	PLIN4:NM_001367868:exon5:c.2002_2003insTGT:p.G668delinsVC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs765959685	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0073	0.0004	0.0004	0.0008	0.0003	0.0003	0.0003	0.0002	0.0005	0.0011	0.0003	0.0009	0.0008	0.0004	0.0036	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	40.4	219	chr19	4511957	.	C	CACA	40.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.95;DP=1959;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.93;MQRankSum=-2.771;QD=1.44;ReadPosRankSum=-2.056;SOR=1.078	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:301,0:301:99:.:.:0,120,1800:.	6	0	1	0
chr19	4513512	4513512	C	G	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.G448C:p.A150P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.0616004506604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.057	0.46632	T	1.0	0.90584	D	1.0	0.97372	D	0.003052	0.35512	N	0.127275	0.500899	0.31740	D	3.005	0.85968	M	2.95	0.09635	T	-2.61	0.56144	D	0.666	0.74189	-1.0104	0.26791	T	0.068	0.27913	T	10	0.69339144	0.71994	D	0.062	0.68385	D	0.245	0.55201	0.488	0.57257	0.241664281697	0.23763	0.455906097849865	0.45508	.	.	0.420954406261	0.27967	T	0.130968	0.46018	T	-0.00818942	0.50520	T	-0.24954	0.49863	T	0.905229582430052	0.55891	D	0.928507	0.75346	D	0.66185796	0.75998	0.6384757	0.78886	0.66185796	0.75999	0.6384757	0.78887	-11.104	0.80225	D	.	.	0.842	0.79333	P	.;.	.;.	3.221691	0.43898	21.8	0.99730497696502363	0.82761	0.57547	0.30405	D	AEFBI	0.255291	0.37444	N	0.348048067949397	0.58637	4.037145	0.22703788114492	0.51353	3.318569	0.0018922917351692	0.08984	0.582742	0.33608	0	0.550933	0.16991	0	0.61531	0.40942	0	0.613276	0.41899	0	.	.	5.36	4.26	0.49832	0.618000	0.24068	1.848000	0.29236	0.545000	0.25583	0.009000	0.18154	0.945000	0.28875	0.012000	0.09680	0.0:0.7272:0.1795:0.0933	6.825	0.23060	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	867.44	61	chr19	4513512	.	C	G	867.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.191;DP=491;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-1.053;SOR=0.716	GT:AD:DP:GQ:PL	0/0:84,0:84:99:0,120,1800	6	0	1	0
chr19	4524997	4524997	C	T	exonic	PLIN5	.	nonsynonymous SNV	PLIN5:NM_001013706:exon7:c.G800A:p.G267D	.	427	1093	1	1	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	0.0026	0.000798722	0.0065	0	0.0030	0	0	0.0145	0	0.0022	0.002335	361	154602	rs199793340	0.0070	0.0068	0.0071	0.0069	0.0083	0.0069	0.0068	0.0082	0.0081	0.0010	0.0009	0.0025	3.085e-05	0.0013	0.0002	0.0083	0.0056	0.0025	0.0039	0.0039	0.0044	0.0033	0.0072	0.0036	0.0035	0.0067	0.0065	0.0012	0	0.0003	0.0032	0	0.0007	0	0.0072	0.0019	0.0037	0.546	0.06669	T	0.405	0.14771	T	0.017	0.17573	B	0.028	0.21332	B	1.000000	0.07966	U	0.379473	1	0.08975	N	0.11	0.08516	N	2.29	0.17113	T	0.1	0.05810	N	0.145	0.14622	-0.9432	0.42105	T	0.025	0.10553	T	10	0.00473994	0.00100	T	.	.	.	0.022	0.04323	.	.	0.0762999501168	0.06990	0.1023533100457796	0.10165	0.26326674649	0.28884	0.365007430315	0.20112	T	0.002058	0.01461	T	-0.629407	0.00096	T	-0.67189	0.07488	T	0.0013362565657138	0.00013	T	0.432057	0.11757	T	0.035584487	0.04215	0.043056168	0.05269	0.035584487	0.04214	0.043056168	0.05269	-5.926	0.45656	T	.	.	0.096	0.15430	B	.	.	0.631855	0.10002	6.756	0.61836902519589709	0.06809	0.07064	0.13090	N	AEFDBCI	0.089001	0.18041	N	-1.08011411098571	0.07010	0.3243954	-1.11906440735766	0.07336	0.3564484	1.09385260709656E-4	0.05123	0.653496	0.48692	0	0.615948	0.52940	0	0.596874	0.31795	0	0.691587	0.68394	0	.	.	4.06	0.559	0.16459	-0.187000	0.09652	-0.328000	0.09912	0.524000	0.24156	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:0.5972:0.1856:0.2171	4.413	0.10869	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000556	0.000000	0.001437	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	702.46	34	chr19	4524997	.	C	T	702.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.444;DP=203;ExcessHet=0;FS=2.724;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.97;ReadPosRankSum=1.15;SOR=0.38	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,106,987	6	0	1	0
chr19	4902668	4902668	C	T	exonic	ARRDC5	.	nonsynonymous SNV	ARRDC5:NM_001080523:exon1:c.G158A:p.S53N,ARRDC5:NM_001367189:exon1:c.G158A:p.S53N	.	427	1076	19	0	0	19	0.00875173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	.	0.0007	0.00638978	0.0050	0.0001	0.0008	0.0003	0.0005	0.0010	0.0056	0.0309	0.0043208	668	154602	rs138665621	0.0027	0.0027	0.0017	0.0036	0.0311	0.0026	0.0026	0.0301	0.0297	8.961e-05	0.0011	0.0039	0	0.0009	0.0042	0.0007	0.0035	0.0311	0.0018	0.0018	0.0011	0.0026	0.0333	0.0017	0.0016	0.0291	0.0275	9.62e-05	0	0.0016	0.0043	0	0.0010	0.0102	0.0009	0.0009	0.0333	0.735	0.03753	T	0.951	0.02610	T	0.0	0.02946	B	0.001	0.04355	B	0.185306	0.16992	N	0.533626	1	0.08975	N	-0.535	0.02521	N	2.53	0.14038	T	-0.38	0.13418	N	0.161	0.16864	-0.9510	0.40799	T	0.012	0.04510	T	10	0.0037297308	0.00069	T	.	.	.	0.045	0.12272	.	.	0.0401082797425	0.02173	0.2775208959611291	0.27665	0.103935340526	0.11761	0.309453070164	0.11825	T	0.022365	0.17257	T	-0.781078	0.00011	T	-0.871744	0.00726	T	0.000267114848412125	0.00002	T	0.435856	0.11948	T	0.041926865	0.06264	0.05679598	0.10211	0.041926865	0.06264	0.05679598	0.10211	-5.982	0.46129	T	.	.	0.059	0.00793	B	.	.	0.028477	0.04481	1.195	0.45414839528428408	0.03563	0.02204	0.06429	N	AEFDBI	0.028730	0.02584	N	-1.27457791838679	0.03984	0.1790004	-1.20840084884647	0.05774	0.27607	0.00302479948094841	0.09875	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.37	0.557	0.16448	0.282000	0.18587	-0.557000	0.08497	-1.086000	0.01550	0.751000	0.29144	0.000000	0.08366	0.006000	0.07323	0.0:0.3145:0.1652:0.5204	4.524	0.11380	952	0.10565	Arrestin-like, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.000000	0.001359	0.000000	0.000000	0.008621	0.009146	0.026515	0.07143	1869.48	37	chr19	4902668	.	C	T	1869.48	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.43;DP=351;ExcessHet=0;FS=0.571;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=0.454;SOR=0.642	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1257	6	0	1	0
chr19	5587737	5587737	C	T	exonic	SAFB2	.	nonsynonymous SNV	SAFB2:NM_014649:exon20:c.G2669A:p.G890E	.	421	1070	29	2	0	33	0.0151864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	.	.	0.00579073	0.0123	0	0.005	0	0	0.0028	0.0156	0.0279	0.002335	361	154602	rs200613061	0.0022	0.0022	0.0014	0.0029	0.0264	0.0021	0.0021	0.0255	0.0251	0.0002	0.0014	0.0041	2.792e-05	0.0003	0.0090	0.0005	0.0027	0.0264	0.0014	0.0014	0.0011	0.0017	0.0250	0.0012	0.0012	0.0214	0.0201	0.0001	0	0.0014	0.0052	0	0.0002	0.0034	0.0005	0.0033	0.0250	0.003	0.68238	D	0.085	0.41074	T	0.965	0.56013	D	0.559	0.49531	P	0.019005	0.27353	N	0.259107	0.999976	0.18612	N	1.78	0.46185	L	3.02	0.08986	T	-3.47	0.67824	D	0.675	0.68255	-1.0867	0.06102	T	0.024	0.10194	T	10	0.007586062	0.00172	T	.	.	.	0.112	0.31546	.	.	0.187035705434	0.18338	0.15805788808572238	0.15726	0.265702687917	0.29123	0.610117137432	0.54332	T	0.134187	0.46529	T	-0.457542	0.01018	T	-0.409054	0.32335	T	0.0399240815428122	0.03676	T	0.935906	0.76011	D	0.25445426	0.48473	0.2747119	0.53402	0.25445426	0.48473	0.2747119	0.53401	-7.53	0.57822	D	.	.	0.298	0.52841	B	.	.	3.877911	0.56346	23.7	0.99100971918731073	0.52471	0.73588	0.35995	D	AEFDBHCI	0.159565	0.28538	N	0.0667775313195468	0.44917	2.757205	-0.0566194688661995	0.37205	2.175265	0.925377295047793	0.26813	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.0	4.0	0.45673	3.018000	0.49310	3.980000	0.40897	0.599000	0.40250	0.989000	0.36753	0.997000	0.33255	0.059000	0.15899	0.1948:0.8051:0.0:0.0	10.376	0.43265	861	0.33516	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011579	0.000000	0.000000	0.015060	0.000000	0.000000	0.012658	0.044000	0.1667	882.92	37	chr19	5587737	.	C	T	882.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.39;DP=260;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=0.061;SOR=0.652	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	4	0	2	1
chr19	5831660	5831660	C	T	exonic	FUT6	.	nonsynonymous SNV	FUT6:NM_001040701:exon2:c.G908A:p.R303Q,FUT6:NM_001381957:exon2:c.G908A:p.R303Q,FUT6:NM_000150:exon3:c.G908A:p.R303Q,FUT6:NM_001381955:exon3:c.G908A:p.R303Q,FUT6:NM_001381959:exon3:c.G908A:p.R303Q,FUT6:NM_001369502:exon4:c.G908A:p.R303Q,FUT6:NM_001369504:exon4:c.G908A:p.R303Q,FUT6:NM_001369505:exon4:c.G908A:p.R303Q,FUT6:NM_001381956:exon4:c.G908A:p.R303Q,FUT6:NM_001381958:exon5:c.G908A:p.R303Q	Fucosyltransferase 6 deficiency	2	1511	9	0	0	9	0.00296932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	0.0004	0.0117812	0.0062	0.0014	0.0005	0.0004	0	0.0006	0.0011	0.0411	0.0053363	825	154602	rs142915411	0.0026	0.0026	0.0015	0.0037	0.0392	0.0025	0.0025	0.0381	0.0376	0.0012	0.0004	0	0.0001	5.629e-05	0.0012	0.0002	0.0025	0.0392	0.0017	0.0017	0.0011	0.0023	0.0396	0.0015	0.0015	0.0350	0.0332	0.0011	0	0.0004	0	0.0006	0	0	0.0001	0.0019	0.0396	1.0	0.00964	T	0.715	0.05434	T	0.001	0.07471	B	0.007	0.12992	B	0.469400	0.04917	N	1.347070	1	0.08975	N	-0.795	0.01629	N	1.83	0.24841	T	1.3	0.00948	N	0.042	0.06587	-1.0002	0.29860	T	0.026	0.10954	T	10	0.0040806234	0.00080	T	.	.	.	0.012	0.01476	.	.	0.20549828249	0.20151	0.09742670869549662	0.09673	0.428187793213	0.43146	0.231095299125	0.02050	T	0.004503	0.03907	T	-0.726083	0.00025	T	-0.787176	0.02243	T	0.00192946281526445	0.00020	T	0.358964	0.08219	T	0.024834944	0.01355	0.057459738	0.10448	0.024834944	0.01355	0.057459738	0.10447	-3.798	0.20775	T	.	.	0.067	0.02829	B	.;.;.;.;.	.;.;.;.;.	-0.545540	0.01726	0.128	0.92113000809616796	0.21466	0.00262	0.01432	N	AEFBI	0.043866	0.06987	N	-1.76084425124885	0.00648	0.02796577	-1.74759821198303	0.00942	0.04218284	2.84235596300132E-6	0.01202	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	3.11	-0.68	0.10775	-0.999000	0.03808	-6.726000	0.01322	-0.988000	0.01860	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.0:0.2199:0.0:0.7801	8.405	0.31769	970	0.06235	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.006599	0.010101	0.004087	0.002994	0.000000	0.000000	0.000000	0.007576	0.07143	1843.44	36	chr19	5831660	.	C	T	1843.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.49;DP=402;ExcessHet=0;FS=2.113;MLEAC=1;MLEAF=0.071;MQ=51.1;MQRankSum=0.125;QD=12.63;ReadPosRankSum=0.648;SOR=0.906	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	6	0	1	0
chr19	5831880	5831880	G	T	exonic	FUT6	.	nonsynonymous SNV	FUT6:NM_001040701:exon2:c.C688A:p.Q230K,FUT6:NM_001381957:exon2:c.C688A:p.Q230K,FUT6:NM_000150:exon3:c.C688A:p.Q230K,FUT6:NM_001381955:exon3:c.C688A:p.Q230K,FUT6:NM_001381959:exon3:c.C688A:p.Q230K,FUT6:NM_001369502:exon4:c.C688A:p.Q230K,FUT6:NM_001369504:exon4:c.C688A:p.Q230K,FUT6:NM_001369505:exon4:c.C688A:p.Q230K,FUT6:NM_001381956:exon4:c.C688A:p.Q230K,FUT6:NM_001381958:exon5:c.C688A:p.Q230K	Fucosyltransferase 6 deficiency	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00414949827601	0.0002	0.000199681	5.767e-05	9.614e-05	0	0	0	8.993e-05	0	0	6.5e-06	1	154602	rs364637	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	2.988e-05	4.474e-05	0	2.519e-05	0	0	0.0002	0.0001	4.646e-05	0.0002	0.0003	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	7.222e-05	0	0.0003	0	0	0	0	0.0003	0	0.0004	1.0	0.00964	T	1.0	0.02465	T	0.0	0.02946	B	0.0	0.01387	B	0.001117	0.00740	U	20.777600	1	0.08975	N	-0.195	0.04202	N	1.97	0.22067	T	-0.11	0.08653	N	0.09	0.08925	-0.9931	0.31801	T	0.014	0.05369	T	10	0.018610537	0.00406	T	0.004149	0.09963	T	0.044	0.11924	.	.	0.154104182512	0.14974	0.12465332453566207	0.12391	0.468396034955	0.46186	0.255060464144	0.04320	T	0.004427	0.03837	T	-0.482824	0.00712	T	-0.705618	0.05524	T	0.0564654188896758	0.06600	T	0.163384	0.01486	T	0.0842828	0.19500	0.053717174	0.09100	0.0842828	0.19500	0.053717174	0.09100	-2.94	0.09569	T	.	.	0.069	0.03698	B	.;.;.;.;.	.;.;.;.;.	-1.423199	0.00344	0.006	0.76963715891198137	0.11681	0.00541	0.02492	N	AEFBI	0.069158	0.13675	N	-1.98287398099833	0.00230	0.009867805	-1.97699288533305	0.00342	0.01511721	6.48873158677104E-6	0.01202	0.422189	0.06491	0	0.59043	0.45803	0	0.600433	0.31921	0	0.613276	0.41899	0	.	.	3.07	-3.46	0.04465	-4.738000	0.00222	-5.157000	0.01826	-1.258000	0.01295	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1217:0.3101:0.2549:0.3134	1.455	0.02239	970	0.06235	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1353.44	92	chr19	5831880	.	G	T	1353.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.63;DP=776;ExcessHet=0;FS=12.56;MLEAC=1;MLEAF=0.071;MQ=57.8;MQRankSum=-8.363;QD=3.92;ReadPosRankSum=-2.325;SOR=1.413	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:141,0:141:99:.:.:0,120,1800:.	6	0	1	0
chr19	6375494	6375494	G	A	exonic	PSPN	.	nonsynonymous SNV	PSPN:NM_004158:exon2:c.C271T:p.R91C	.	418	1084	18	2	0	22	0.0100457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.423871069852	0.0006	0.000399361	0.0024	0	0.0058	0	0	0.0047	0.0058	0.0010	0.0006856	106	154602	rs199881560	0.0010	0.0010	0.0010	0.0011	0.0141	0.0010	0.0009	0.0116	0.0107	0.0010	0.0013	0.0020	0	0.0003	0.0141	0.0009	0.0018	0.0017	0.0009	0.0009	0.0008	0.0011	0.0031	0.0008	0.0008	0.0024	0.0022	0.0005	0	0.0031	0.0026	0	9.414e-05	0.0137	0.0008	0.0024	0.0004	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.765	0.56630	P	0.005456	0.32788	N	0.206931	0.999861	0.50061	D	2.815	0.81989	M	-1.88	0.84487	D	-6.72	0.92561	D	0.457	0.49420	0.347	0.88284	D	0.640	0.87419	D	10	0.051564932	0.05056	T	0.423871	0.93847	D	0.754	0.91583	.	.	0.869336624702	0.86806	0.6008403966575716	0.60015	1.28444644439	0.82614	0.542785406113	0.44839	T	0.931102	0.98836	D	0.161253	0.70316	D	0.445622	0.93469	D	0.0494534286816615	0.05403	T	0.968203	0.88468	D	0.5794814	0.71580	0.33474544	0.59296	0.5794814	0.71581	0.33474544	0.59295	-13.146	0.89955	D	.	.	0.306	0.53425	B	.	.	5.032840	0.83719	28.1	0.99917466821320478	0.98518	0.76001	0.37243	D	AEFDBCI	0.663711	0.63313	D	0.510018647440075	0.67679	5.114119	0.46060518330418	0.65400	4.819082	0.999590146156428	0.40745	0.679555	0.55442	0	0.550933	0.16991	0	0.645312	0.48771	0	0.602482	0.37289	1	.	.	4.21	4.21	0.48984	3.446000	0.52692	5.032000	0.46835	0.511000	0.23309	1.000000	0.71638	1.000000	0.68203	0.906000	0.44173	0.0:0.0:0.6769:0.3231	9.764	0.39713	748	0.52143	Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010769	0.010989	0.012465	0.017647	0.000000	0.000000	0.003145	0.007576	0.07143	315.49	39	chr19	6375494	.	G	A	315.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.12;DP=213;ExcessHet=0;FS=1.374;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.09;ReadPosRankSum=-0.22;SOR=1.19	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1378	6	0	1	0
chr19	6380456	6380456	C	T	exonic	GTF2F1	.	nonsynonymous SNV	GTF2F1:NM_002096:exon13:c.G1379A:p.R460H	.	421	1100	1	0	0	1	0.000454339	.	.	.	3255481	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.244	0.0655805275565	.	.	1.647e-05	9.61e-05	0	0	0	0	0	6.056e-05	1.94e-05	3	154602	rs753328893	2.873e-05	2.873e-05	3.675e-05	2.063e-05	0.0001	2.151e-05	1.908e-05	4.358e-05	2.767e-05	0.0001	0.0001	0	2.519e-05	0	0	2.608e-05	1.656e-05	2.319e-05	3.288e-05	3.284e-05	5.142e-05	1.347e-05	0.0002	1.262e-05	7.99e-06	1.921e-05	1.032e-05	7.246e-05	0	0	0	0.0002	0	0	1.47e-05	0	0	0.003	0.68238	D	0.016	0.60972	D	0.044	0.21686	B	0.018	0.18489	B	0.000007	0.62929	D	0.064979	0.999999	0.58761	D	3.095	0.87515	M	0.23	0.59717	T	-3.63	0.69714	D	0.578	0.59986	-0.4246	0.71242	T	0.348	0.71249	T	10	0.74117625	0.74968	D	0.065581	0.69622	D	0.244	0.55061	0.802	0.92089	0.67681296001	0.67407	0.8168404217759385	0.81640	1.00253147904	0.74463	0.801340699196	0.82167	T	0.547238	0.84604	D	-0.133454	0.30939	T	-0.174428	0.57037	T	0.836229860782623	0.49022	D	0.968803	0.94423	D	0.63134223	0.74369	0.37114805	0.62350	0.63134223	0.74371	0.37114805	0.62350	-11.287	0.81209	D	.	.	0.788	0.76773	P	.;.	.;.	5.230743	0.87800	29.4	0.99947296354516069	0.99913	0.85972	0.45170	D	AEFDBCI	0.362826	0.45194	N	0.192692200323235	0.50847	3.27099	0.187837158256159	0.49178	3.12432	0.301544799278408	0.19194	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.52	2.33	0.27981	5.340000	0.65730	5.841000	0.50249	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.7635:0.1512:0.0853	8.879	0.34521	748	0.52143	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	5470.22	35	chr19	6380456	.	C	T	5470.22	.	AC=2;AF=0.143;AN=14;DP=368;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.39;SOR=0.885	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1116	6	1	0	0
chr19	6755168	6755168	C	T	exonic	SH2D3A	.	nonsynonymous SNV	SH2D3A:NM_005490:exon5:c.G644A:p.R215Q	.	431	1079	12	0	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.0130555189363	0.0006	0.000199681	0.0006	0	0.0003	0.0001	0	0.0009	0.0023	0.0006	0.0004657	72	154602	rs139813452	0.0006	0.0006	0.0006	0.0007	0.0058	0.0006	0.0006	0.0042	0.0037	0.0003	0.0002	0.0117	0	0	0.0058	0.0004	0.0015	0.0008	0.0004	0.0004	0.0004	0.0003	0.0004	0.0003	0.0003	0.0002	0.0001	7.235e-05	0	0.0003	0.0075	0	0	0	0.0003	0.0005	0.0004	0.151	0.24564	T	0.0	0.92824	D	1.0	0.90584	D	0.95	0.68788	D	0.003790	0.34487	N	0.000000	0.622903	0.33738	D	2.515	0.73286	M	1.32	0.35219	T	-1.17	0.32387	N	0.238	0.29081	-0.5966	0.64955	T	0.200	0.55625	T	10	0.007838309	0.00178	T	0.013056	0.32163	T	0.114	0.32008	.	.	0.697679765967	0.69506	0.4191840507844904	0.41834	0.948468269422	0.72514	0.386554598808	0.23182	T	0.081848	0.36692	T	-0.307122	0.08005	T	-0.319252	0.42656	T	0.554415106773376	0.34643	D	0.829317	0.49436	T	0.104006454	0.24584	0.064677715	0.12999	0.104006454	0.24584	0.064677715	0.12998	-9.529	0.71039	D	.	.	0.102	0.17785	B	.;.	.;.	3.860392	0.55978	23.7	0.99897786711129255	0.97048	0.97645	0.76123	D	AEFDBHI	0.584879	0.58353	D	0.460673285849471	0.64810	4.744259	0.388358732190324	0.60845	4.276993	0.999999999322786	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	4.53	4.53	0.55009	3.683000	0.54396	1.666000	0.27927	0.524000	0.24156	1.000000	0.71638	0.998000	0.33993	0.432000	0.27494	0.0:1.0:0.0:0.0	14.758	0.69208	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.005051	0.006793	0.011696	0.000000	0.008621	0.003049	0.000000	0.07143	1027.53	38	chr19	6755168	.	C	T	1027.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.15;DP=275;ExcessHet=0;FS=0.881;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=-1.613;SOR=0.751	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,111,1665	6	0	1	0
chr19	7019249	7019249	C	T	exonic	MBD3L2B	.	nonsynonymous SNV	MBD3L2B:NM_001364674:exon2:c.G527A:p.R176Q	.	445	1070	6	1	0	8	0.00372439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	.	0.000599042	0.0039	0	0	0	0	0.0009	0.0144	0.0076	2.59e-05	4	154602	rs543973148	0.0010	0.0009	0.0007	0.0013	0.0064	0.0010	0.0009	0.0059	0.0057	0.0001	0.0004	0.0013	0.0002	0	0.0013	0.0003	0.0011	0.0064	0.0005	0.0005	0.0004	0.0006	0.0057	0.0004	0.0004	0.0041	0.0035	0.0002	0	0.0003	0.0032	0.0006	0	0	0.0003	0.0005	0.0057	.	.	.	.	.	.	.	.	.	.	.	.	0.421155	0.04648	N	1.544800	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9505	0.40885	T	0.092	0.35119	T	6	0.0058014095	0.00129	T	.	.	.	.	.	.	.	.	.	0.45958468543087627	0.45876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607939	0.22935	T	0.047579296	0.08154	0.0870694	0.20213	0.047579296	0.08154	0.0870694	0.20213	-3.949	0.23038	T	.	.	0.097	0.15966	B	.;.	.;.	0.948669	0.13246	9.748	0.83239536717351248	0.14617	0.00261	0.01428	N	AEFBI	.	.	.	-1.01329020534341	0.08327	0.3900687	-1.24435682342607	0.05215	0.2479567	6.87900898998808E-6	0.01202	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.057018	0.00518	0	0.044006	0.02936	2.25	-3.46	0.04465	0.075000	0.14547	-4.934000	0.01920	-0.394000	0.05329	0.048000	0.21332	0.000000	0.08366	0.013000	0.09966	0.0:0.2817:0.0:0.7183	7.344	0.25827	964	0.07719	Methyl-CpG binding protein 2/3, C-terminal domain;Methyl-CpG binding protein 2/3, C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	67.64	10	chr19	7019249	.	C	T	67.64	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.15;DP=77;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=55.68;MQRankSum=-0.319;QD=16.91;ReadPosRankSum=0.319;SOR=0.916	GT:AD:DP:GQ:PL	0/0:14,0:14:42:0,42,484	6	0	1	0
chr19	7378432	7378432	C	A	exonic	ARHGEF18	.	nonsynonymous SNV	ARHGEF18:NM_001367823:exon6:c.C580A:p.H194N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079764097276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.47097	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.547	0.57348	.	.	.	.	.	.	.	0.6070587	0.67234	D	0.079764	0.73308	D	.	.	.	.	0.302459207581	0.29844	.	.	.	.	.	.	.	.	.	.	-0.183058	0.23281	T	-0.500727	0.22273	T	.	.	.	0.638636	0.25202	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.48458	B	.	.	2.764954	0.36273	20.2	0.9877177266228061	0.45986	0.94013	0.59851	D	AEFDBI	0.563733	0.57080	D	.	.	.	.	.	.	0.89425890748775	0.25925	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.97	3.97	0.45241	3.763000	0.54969	5.609000	0.49049	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.215000	0.22324	0.0:1.0:0.0:0.0	11.892	0.51917	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	35	chr19	7378432	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:76,0:76:99:0,120,1800	6	1	0	0
chr19	7553892	7553892	C	T	exonic	PNPLA6	.	nonsynonymous SNV	PNPLA6:NM_001166114:exon19:c.C2278T:p.P760S,PNPLA6:NM_001166111:exon21:c.C2308T:p.P770S,PNPLA6:NM_001166112:exon21:c.C2083T:p.P695S,PNPLA6:NM_001166113:exon22:c.C2164T:p.P722S,PNPLA6:NM_006702:exon22:c.C2164T:p.P722S	Boucher-Neuhauser syndrome, Autosomal recessive;Oliver-McFarlane syndrome, Autosomal recessive;Spastic paraplegia 39, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.0215152546973	.	.	8.252e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs748337187	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.24183	T	0.262	0.26883	T	0.13	0.27095	B	0.064	0.27215	B	0.000899	0.41231	D	0.207483	0.998034	0.44438	D	.	.	.	3.63	0.04353	T	-1.43	0.35597	N	0.347	0.41063	-0.9284	0.44371	T	0.013	0.05129	T	10	0.13707832	0.26077	T	0.021515	0.44299	T	0.070	0.20419	.	.	0.327419511103	0.32360	0.7900986978302605	0.78961	0.943014675479	0.72284	0.45740288496	0.32954	T	.	.	.	-0.29983	0.08675	T	-0.571607	0.15302	T	0.525858283042908	0.33581	D	0.938506	0.76978	D	0.056595422	0.11155	0.062766425	0.12329	0.056595422	0.11154	0.062766425	0.12329	-2.319	0.04661	T	0.0840437797887116	0.04599	0.059	0.01810	B	.;.;.;.;.	.;.;.;.;.	2.597799	0.33711	19.42	0.98887702084333085	0.47948	0.75662	0.37057	D	AEFDBI	0.226684	0.35059	N	-0.344365580520632	0.27479	1.507991	-0.232607413915713	0.30375	1.709715	0.0320977293975199	0.14037	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	1.866000	0.39127	5.803000	0.49951	0.597000	0.34315	0.737000	0.28995	0.997000	0.33255	0.015000	0.10482	0.0:1.0:0.0:0.0	13.903	0.63321	872	0.31118	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	38	chr19	7553892	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1106	6	1	0	0
chr19	7644710	7644710	G	A	exonic	STXBP2	.	nonsynonymous SNV	STXBP2:NM_001127396:exon14:c.G1195A:p.D399N,STXBP2:NM_001272034:exon14:c.G1237A:p.D413N,STXBP2:NM_006949:exon14:c.G1204A:p.D402N	Hemophagocytic lymphohistiocytosis, familial, 5	0	1520	2	0	0	2	0.000657462	.	.	YES	848173	Familial_hemophagocytic_lymphohistiocytosis_5	MONDO:MONDO:0013135,MedGen:C2751293,OMIM:613101,Orphanet:540	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.624	0.0696588652553	0.0002	0.000199681	0.0002	0.0005	8.69e-05	0	0	1.528e-05	0	0.0007	0.0001294	20	154602	rs114628602	5.747e-05	5.746e-05	4.493e-05	7.014e-05	0.0005	4.744e-05	4.367e-05	0.0004	0.0004	0.0004	2.237e-05	0	0	0	0	2.069e-05	1.656e-05	0.0005	0.0001	0.0001	0.0002	0.0001	0.0004	9.744e-05	8.258e-05	0.0003	0.0002	0.0004	0	0	0	0	0	0	1.471e-05	0.0009	0.0004	0.1	0.30515	T	0.15	0.32461	T	0.997	0.70673	D	0.858	0.61127	P	0.000045	0.53742	D	0.117810	1	0.81001	D	2.16	0.60381	M	-1.39	0.80387	T	-4.55	0.78553	D	0.872	0.87373	0.076	0.83737	D	0.544	0.83232	D	10	0.7359166	0.74618	D	0.069659	0.70791	D	0.624	0.85459	.	.	0.879406727464	0.87822	0.7892199818921913	0.78873	0.840555430848	0.68044	0.691010355949	0.65852	T	0.509412	0.82625	D	-0.190609	0.22169	T	-0.14741	0.59473	T	0.579487323760986	0.35599	D	0.916508	0.70155	D	0.6934562	0.77699	0.41648096	0.65730	0.6934562	0.77701	0.41648096	0.65730	-8.158	0.64303	D	0.448449635214054	0.53269	0.244	0.50380	B	.;.;.	.;.;.	4.678230	0.74840	26.2	0.99878153765887945	0.95491	0.95955	0.66881	D	AEFDBCI	0.953370	0.96960	D	0.469814280668582	0.65335	4.809634	0.404448292061754	0.61841	4.390067	0.999999999980542	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.562822	0.20929	0	.	.	4.02	4.02	0.45968	8.025000	0.89148	6.362000	0.55510	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.642000	0.32476	0.0:0.0:1.0:0.0	13.699	0.62075	906	0.23090	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	1024.44	88	chr19	7644710	.	G	A	1024.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.58;DP=274;ExcessHet=0;FS=0.811;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=-0.703;SOR=0.565	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1210	6	0	1	0
chr19	7765914	7765914	G	A	exonic	CLEC4M	.	nonsynonymous SNV	CLEC4M:NM_001144907:exon3:c.G428A:p.R143Q,CLEC4M:NM_001144911:exon3:c.G407A:p.R136Q,CLEC4M:NM_001144904:exon4:c.G338A:p.R113Q,CLEC4M:NM_001144908:exon4:c.G491A:p.R164Q,CLEC4M:NM_001144909:exon4:c.G491A:p.R164Q,CLEC4M:NM_014257:exon4:c.G491A:p.R164Q,CLEC4M:NM_001144905:exon5:c.G419A:p.R140Q,CLEC4M:NM_001144910:exon5:c.G422A:p.R141Q	SARS infection, protection against	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	.	0.00539137	.	.	.	.	.	.	.	.	0.001921	50	26028	rs11465376	0.0023	0.0018	0.0015	0.0030	0.0106	0.0021	0.0021	0.0097	0.0094	0.0006	0.0013	0.0051	0.0002	0.0003	0.0022	0.0007	0.0009	0.0106	0.0039	0.0003	0.0019	0.0060	.	0.0013	0.0008	.	.	0	0	0	0	0	0.0364	.	0	0	0	0.65	0.14945	T	0.432	0.32783	T	0.015	0.18474	B	0.001	0.11217	B	.	.	.	.	1	0.08975	N	0.405	0.12330	N	1.96	0.22270	T	0.15	0.07299	N	0.065	0.18239	-0.9411	0.42442	T	0.030	0.12935	T	9	0.0054153204	0.00119	T	.	.	.	0.023	0.04649	.	.	0.0551355673512	0.04727	0.0468578313931277	0.04628	0.281672931401	0.30640	0.371449828148	0.21040	T	0.016395	0.13559	T	-0.368219	0.03685	T	-0.766697	0.02878	T	0.0231948717110094	0.01046	T	0.577942	0.26688	T	0.019204993	0.00447	0.03558665	0.02838	0.019204993	0.00447	0.03558665	0.02838	-1.21	0.08285	T	.	.	0.076	0.16363	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	-1.273345	0.00461	0.010	0.6255468811981012	0.06992	0.00024	0.00244	N	AEFBI	0.052305	0.09323	N	-2.04169666058381	0.00172	0.007362658	-2.12236757773986	0.00166	0.007321059	6.31194013880354E-6	0.01202	0.549168	0.22868	0	0.573888	0.26702	0	0.59043	0.30614	0	0.616125	0.45549	0	.	.	1.19	-1.4	0.08499	-1.404000	0.02601	-6.853000	0.01290	-4.503000	0.00027	0.016000	0.19238	0.000000	0.08366	0.005000	0.06747	0.7631:0.0:0.2369:0.0	6.204	0.19805	952	0.10565	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.024007	0.045455	0.016736	0.012658	0.000000	0.050000	0.038462	0.029762	0.07143	248.53	24	chr19	7765914	.	G	A	248.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.67;DP=189;ExcessHet=0;FS=1.585;MLEAC=1;MLEAF=0.071;MQ=43.97;MQRankSum=0.324;QD=8.57;ReadPosRankSum=-1.883;SOR=1.179	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	6	0	1	0
chr19	7870401	7870401	G	A	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.C2843T:p.A948V	.	.	.	.	.	.	.	.	.	.	.	3379896	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.092	0.0429493249104	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	.	2.322e-06	1.047e-05	0	4.753e-06	2.858e-06	0	0	.	.	0	0	0	0	0	0	2.858e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.813	0.03910	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.23480	N	.	.	.	.	.	.	.	.	.	0.088	0.06587	-1.0198	0.23780	T	0.079	0.31435	T	8	0.07262945	0.10866	T	0.042949	0.60729	D	.	.	0.333	0.32005	0.0138822411134	0.00435	0.14309099076065493	0.14232	.	.	0.540233671665	0.44479	T	0.011512	0.10265	T	-0.209099	0.19506	T	-0.538132	0.18480	T	0.0778022035956383	0.09703	T	0.364364	0.08448	T	0.0237056	0.01133	0.03099248	0.01627	0.0237056	0.01133	0.03099248	0.01626	-4.885	0.35566	T	.	.	0.146	0.32299	B	.	.	0.379744	0.07515	4.163	0.95213987937006728	0.26425	0.09764	0.15446	N	ALL	0.110833	0.21964	N	-1.01398355816632	0.08313	0.3893434	-1.09788812534606	0.07741	0.3777807	0.997430750526847	0.35614	0.675385	0.55134	0	0.48864	0.07623	0	0.693117	0.63056	0	0.562822	0.20929	0	.	.	3.09	0.561	0.16471	-0.317000	0.08101	-7.194000	0.01210	-1.734000	0.00710	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.135:0.0:0.6484:0.2166	4.525	0.11383	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	30.27	23	chr19	7870401	.	G	A	30.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.223;DP=170;ExcessHet=0;FS=17.975;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=-0.187;SOR=3.593	GT:AD:DP:GQ:PL	0/1:22,5:27:40:40,0,538	5	0	1	1
chr19	7870455	7870455	G	A	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.C2789T:p.P930L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0140344727526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.961e-06	6.211e-06	1.881e-06	2.049e-06	0.0003	3.3e-07	1.2e-07	.	.	0	0	0	0	0	0.0003	1.173e-06	0	0	0	1.515e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.051	0.47828	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.176	0.18920	-0.8937	0.48605	T	0.160	0.49463	T	6	0.08829132	0.15189	T	0.014034	0.33868	T	.	.	.	.	0.262175524916	0.25828	0.19047542651165952	0.18965	.	.	0.657796919346	0.61094	T	0.022776	0.17502	T	-0.22676	0.17080	T	-0.563501	0.16048	T	0.055418661380697	0.06428	T	0.371663	0.08799	T	0.09745346	0.22973	0.09970701	0.23817	0.09745346	0.22973	0.09970701	0.23817	-6.67	0.51584	T	.	.	0.165	0.36295	B	.	.	1.367255	0.17770	13.36	0.78101512743506285	0.12156	0.05160	0.10975	N	AEFDGBCIJ	0.054124	0.09814	N	-1.0001060034922	0.08602	0.4039336	-1.27503650658386	0.04770	0.2258164	0.998513968341128	0.37109	0.675385	0.55134	0	0.48864	0.07623	0	0.693117	0.63056	0	0.562822	0.20929	0	.	.	1.2	-2.41	0.06184	0.038000	0.13749	-1.318000	0.05730	0.518000	0.23583	0.000000	0.06391	0.000000	0.08366	0.075000	0.16954	0.3831:0.0:0.6169:0.0	5.405	0.15618	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	299.27	25	chr19	7870455	.	G	A	299.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.66;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.38;MQRankSum=0.809;QD=9.65;ReadPosRankSum=-1.756;SOR=0.859	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1224	5	0	1	1
chr19	7870729	7870729	G	T	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.C2515A:p.P839T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0272144880457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.448e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.37730	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.208	0.23125	-0.9519	0.40643	T	0.158	0.49076	T	6	0.11397132	0.21427	T	0.027214	0.50054	D	.	.	.	.	0.0401082797425	0.02173	0.2868912861934115	0.28602	.	.	0.567236363888	0.48287	T	0.029732	0.21238	T	-0.162018	0.26451	T	-0.470504	0.25462	T	0.107078348712584	0.13118	T	0.332167	0.06971	T	0.09879848	0.23308	0.08148074	0.18521	0.09879848	0.23308	0.08148074	0.18521	-7.585	0.58206	D	.	.	0.123	0.25721	B	.	.	0.703138	0.10717	7.411	0.86514836626932934	0.16588	0.05035	0.10820	N	ALL	0.042984	0.06739	N	-0.554950250798381	0.20328	1.070839	-0.729838189993778	0.16219	0.856973	0.999981700707062	0.51787	0.741868	0.97996	0	0.48864	0.07623	0	0.774882	0.98623	0	0.562822	0.20929	0	.	.	3.3	0.957	0.18736	0.282000	0.18587	-4.032000	0.02382	-0.243000	0.07376	0.001000	0.13787	0.000000	0.08366	0.205000	0.22041	0.2352:0.0:0.7648:0.0	7.513	0.26754	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	31	chr19	7870729	.	G	T	33.22	.	AC=2;AF=0.143;AN=14;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1178	6	1	0	0
chr19	7871678	7871678	G	C	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.C1566G:p.D522E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00631720991641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0061	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0	8.002e-05	2.812e-05	0	0.0004	0.0003	0.0003	6.372e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.27943	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.125	0.11769	-0.9982	0.30423	T	0.035	0.15291	T	6	0.06605524	0.09003	T	0.006317	0.16610	T	.	.	.	.	0.0401082797425	0.02173	0.04024571050867364	0.03970	.	.	0.37946036458	0.22180	T	0.013956	0.11972	T	-0.255113	0.13478	T	-0.604228	0.12458	T	0.0270435322631717	0.01550	T	0.30037	0.05618	T	0.023964053	0.01182	0.025669742	0.00620	0.023964053	0.01182	0.025669742	0.00619	-5.088	0.37780	T	.	.	0.367	0.57658	A	.	.	1.113604	0.14988	11.50	0.53643305433940836	0.04980	0.10200	0.15772	N	ALL	.	.	.	-0.794969245513708	0.13441	0.6621338	-0.886495899590302	0.12413	0.638379	0.999999999661444	0.74766	0.730579	0.87903	0	0.607795	0.50457	0	0.749866	0.98131	0	0.603991	0.37454	0	.	.	4.05	0.534	0.16320	0.450000	0.21475	0.712000	0.20944	0.606000	0.46413	0.025000	0.20085	0.000000	0.08366	0.014000	0.10232	0.353:0.0:0.647:0.0	5.982	0.18645	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	307.26	36	chr19	7871678	.	G	C	307.26	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-3.376;DP=418;ExcessHet=1.1394;FS=221.189;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.23;ReadPosRankSum=0.44;SOR=8.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:65,21:86:3:.:.:3,0,1155:.	4	0	3	0
chr19	7900696	7900696	G	A	exonic	LRRC8E	.	nonsynonymous SNV	LRRC8E:NM_001268285:exon2:c.G1787A:p.R596Q,LRRC8E:NM_025061:exon3:c.G2174A:p.R725Q,LRRC8E:NM_001268284:exon4:c.G2174A:p.R725Q	.	.	.	.	.	.	.	.	.	.	.	2262918	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.063	0.0139451995944	.	.	2.507e-05	0	0	0	0	3.055e-05	0	6.078e-05	1.94e-05	3	154602	rs780932014	1.916e-05	1.915e-05	1.362e-05	2.477e-05	2.338e-05	1.329e-05	1.144e-05	1.627e-05	1.382e-05	0	0	0	0	0	0	2.338e-05	1.656e-05	1.159e-05	1.97e-05	1.97e-05	1.284e-05	2.689e-05	2.939e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.939e-05	0	0	0.367	0.11659	T	0.579	0.08535	T	0.236	0.30770	B	0.043	0.24256	B	0.000033	0.55875	D	0.070284	0.608739	0.32602	D	0.74	0.18910	N	2.85	0.10578	T	-0.27	0.11366	N	0.247	0.27910	-0.9982	0.30423	T	0.013	0.05225	T	10	0.15621108	0.29424	T	0.013945	0.33715	T	0.063	0.18251	0.414	0.45216	0.665928966814	0.66311	0.36523178179586574	0.36437	0.69199338216	0.60632	0.572844624519	0.49080	T	0.003928	0.03343	T	-0.296977	0.08948	T	-0.556706	0.16688	T	0.265195250511169	0.23541	T	0.779122	0.41282	T	0.056002583	0.10961	0.04005893	0.04243	0.056002583	0.10961	0.04005893	0.04243	-4.85	0.35168	T	.	.	0.114	0.23848	B	.;.	.;.	2.735331	0.35810	20.0	0.9663663692811949	0.30538	0.69605	0.34254	D	AEFDGBCI	0.251321	0.37121	N	-0.345315913071757	0.27445	1.505803	-0.219156420777362	0.30848	1.740564	0.999999337124515	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.35	4.35	0.51454	3.877000	0.55836	9.904000	0.82373	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.045000	0.14751	0.1086:0.0:0.8914:0.0	8.065	0.29816	879	0.29470	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1137.46	38	chr19	7900696	.	G	A	1137.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.32;DP=266;ExcessHet=0;FS=3.041;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=2.31;SOR=1.144	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1016	6	0	1	0
chr19	7910783	7910872	CTGGGCAAGATGACAGTGGCGGTGAGTGACCAGGCGGGGCTTGCACTGGGCAGGATGACAGAGGCGGTGAGTGACCAGGCGGGGCGTGCA	-	exonic	MAP2K7	.	nonframeshift deletion	MAP2K7:NM_001297556:exon6:c.655_675del:p.L219_A225del,MAP2K7:NM_145185:exon6:c.655_675del:p.L219_A225del,MAP2K7:NM_001297555:exon7:c.703_723del:p.L235_A241del	.	426	1075	20	1	0	22	0.0101289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0001	0.0001	0	0	0.0004	0.0029	0.0058	0.0001921	5	26028	.	0.0067	0.0067	0.0064	0.0070	0.0173	0.0066	0.0065	0.0166	0.0163	0.0012	0.0059	0.0026	0	0.0007	0.0121	0.0066	0.0075	0.0173	0.0046	0.0046	0.0048	0.0045	0.0148	0.0043	0.0042	0.0121	0.0110	0.0012	0	0.0079	0.0032	0.0002	0.0006	0.0068	0.0063	0.0052	0.0148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	194.4	34	chr19	7910782	.	TCTGGGCAAGATGACAGTGGCGGTGAGTGACCAGGCGGGGCTTGCACTGGGCAGGATGACAGAGGCGGTGAGTGACCAGGCGGGGCGTGCA	T	194.4	.	AC=1;AF=0.071;AN=14;DP=235;ExcessHet=0;FS=3.68;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=24.3;SOR=1.061	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,107,936	6	0	1	0
chr19	8112037	8112037	G	T	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon31:c.C3901A:p.P1301T,FBN3:NM_032447:exon31:c.C3901A:p.P1301T	.	417	1104	1	0	0	1	0.000452694	.	.	.	3250124	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.586	0.0918645538181	7.7e-05	.	0.0001	0	0	0	0	0.0003	0.0011	0	0.0001164	18	154602	rs150945472	8.007e-05	8.209e-05	6.945e-05	9.079e-05	0.0009	6.803e-05	6.357e-05	0.0003	0.0002	0	0	0.0032	0	0	0.0009	1.439e-05	0.0002	0	9.262e-05	9.203e-05	0.0001	6.78e-05	6.609e-05	5.564e-05	4.393e-05	.	.	0	0	6.609e-05	0.0035	0	0	0	1.474e-05	0	0	0.017	0.51248	D	0.111	0.37173	T	0.999	0.77913	D	0.947	0.68407	D	0.000000	0.84330	U	0.000000	1	0.81001	D	2.68	0.78455	M	-2.27	0.87433	D	-4.38	0.77143	D	0.476	0.55019	0.492	0.90437	D	0.763	0.91939	D	10	0.14969203	0.28326	T	0.091865	0.75787	D	0.586	0.83416	.	.	0.831045819502	0.82943	0.6142289406386615	0.61354	0.78146300038	0.65317	0.420418709517	0.27894	T	0.287586	0.66038	T	0.0757431	0.61540	D	-0.0653309	0.65958	T	0.646454036235809	0.38311	D	0.931907	0.74605	D	0.37448874	0.58914	0.35081902	0.60685	0.37448874	0.58915	0.35081902	0.60685	-11.687	0.83293	D	.	.	0.128	0.27373	B	.;.;.	.;.;.	3.558504	0.50059	22.9	0.99633552950773663	0.76203	0.98975	0.89414	D	AEFDBI	0.643813	0.62029	D	0.319582965624898	0.57154	3.881787	0.17997611955032	0.48750	3.086858	0.999999967074832	0.74766	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	4.34	4.34	0.51267	4.454000	0.59807	.	.	0.618000	0.50648	1.000000	0.71638	0.942000	0.28804	0.349000	0.25636	0.0:0.0:1.0:0.0	16.831	0.85809	929	0.16858	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1408.44	37	chr19	8112037	.	G	T	1408.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.8;DP=325;ExcessHet=0;FS=1.462;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.734;SOR=0.545	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	6	0	1	0
chr19	8126517	8126517	G	C	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon20:c.C2505G:p.C835W,FBN3:NM_032447:exon20:c.C2505G:p.C835W	.	137	535	548	300	2	1150	0.517583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.803	0.559060734512	.	.	0.0002	0	8.868e-05	0	0	1.54e-05	0.0023	0.0015	0.0001876	29	154602	rs3813778	0.0001	0.0001	6.129e-05	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	0	0	0	0	0	0	0	8.283e-05	0.0025	4.601e-05	4.594e-05	0	9.413e-05	0.0014	2.11e-05	1.527e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	U	0.000000	2.44497e-07	0.58761	P	3.125	0.87999	M	-7.4	0.99874	D	-9.8	0.98670	D	0.947	0.95491	1.094	0.99390	D	0.991	0.99770	D	9	0.9908964	0.99604	D	0.559061	0.95967	D	0.803	0.93582	0.977	0.99785	0.849904413536	0.84846	0.8931084730889061	0.89280	0.878198912571	0.69658	0.84935772419	0.89518	D	0.588301	0.86624	D	0.0842413	0.62534	D	0.341446	0.89977	D	0.706885159015656	0.41048	D	0.926107	0.72788	D	0.9377664	0.95020	0.84998965	0.91504	0.9377664	0.95020	0.84998965	0.91504	-17.296	0.99139	D	.	.	0.865	0.80568	P	.;.;.	.;.;.	2.913046	0.38644	20.8	0.99231033885037523	0.56214	0.80133	0.39853	D	AEFDGBI	0.703531	0.65954	D	-0.0659779348930585	0.38891	2.284897	-0.285408720332401	0.28579	1.594545	0.202947504415098	0.18146	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	3.79	-5.33	0.02503	0.339000	0.19617	.	.	-0.898000	0.02344	0.995000	0.38783	0.000000	0.08366	0.695000	0.33988	0.7167:0.0:0.2833:0.0	13.052	0.58370	934	0.15400	TB domain|TB domain;TB domain|TB domain;TB domain|TB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	3808.26	43	chr19	8126517	.	G	C	3808.26	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.204;DP=338;ExcessHet=0.4813;FS=1.115;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.96;ReadPosRankSum=0;SOR=0.793	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1156	6	0	1	0
chr19	8302540	8302540	G	A	exonic	CD320	.	nonsynonymous SNV	CD320:NM_001165895:exon4:c.C646T:p.R216C,CD320:NM_016579:exon5:c.C772T:p.R258C	Methylmalonic aciduria, transient, due to transcobalamin receptor defect	1	1483	35	3	0	41	0.0136349	.	.	.	377924	not_specified|not_provided|Methylmalonic_acidemia_due_to_transcobalamin_receptor_defect	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013341,MedGen:C4749905,OMIM:613646,Orphanet:280183	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.057	.	0.0003	0.038139	0.0214	0.0004	0.0010	0.0012	0.0002	0.0002	0.0200	0.1531	0.0185703	2871	154602	rs146190802	0.0095	0.0095	0.0053	0.0138	0.1518	0.0094	0.0093	0.1496	0.1487	0.0003	0.0002	0	0.0007	0	0.0052	0.0001	0.0095	0.1518	0.0056	0.0056	0.0029	0.0085	0.1726	0.0053	0.0052	0.1628	0.1589	0.0002	0	0.0001	0	0.0014	0	0	0.0001	0.0014	0.1726	0.17	0.22833	T	0.222	0.26386	T	0.078	0.24389	B	0.006	0.12133	B	0.728254	0.06354	N	1.162570	1	0.08975	N	1.3	0.32576	L	-4.15	0.96798	D	-1.39	0.34397	N	0.131	0.12627	-0.0917	0.80289	T	0.702	0.89742	D	10	0.0018918812	0.00026	T	.	.	.	0.171	0.43483	.	.	.	.	0.3110424995330931	0.31017	0.157689357993	0.17809	0.29886674881	0.10233	T	0.066763	0.33029	T	-0.402434	0.02232	T	-0.221025	0.52639	T	0.0059618278642031	0.00066	T	0.743426	0.36288	T	0.045751784	0.07541	0.029124541	0.01216	0.045751784	0.07541	0.029124541	0.01216	-6.356	0.49165	T	.	.	0.125	0.50306	B	.;.	.;.	1.040065	0.14208	10.78	0.94690428476183652	0.25333	0.02128	0.06281	N	ALL	0.064749	0.12591	N	-1.02829929009047	0.08019	0.3745948	-1.10097199002992	0.07682	0.3746335	0.100542589210616	0.16356	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.76	-1.38	0.08554	-0.290000	0.08390	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.5174:0.0:0.4826:0.0	6.927	0.23599	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.012097	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.060606	0.08333	810.27	36	chr19	8302540	.	G	A	810.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.271;DP=232;ExcessHet=0;FS=2.03;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=0.27;SOR=1.011	GT:AD:DP:GQ:PL	0/1:33,34:67:99:820,0,749	5	0	1	1
chr19	8324457	8324457	C	T	exonic	KANK3	.	nonsynonymous SNV	KANK3:NM_198471:exon10:c.G2374A:p.D792N	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00764050621881	.	0.00139776	0.0016	0.0002	0	0	0.0006	0.0006	0.0027	0.0056	0.0006145	95	154602	rs74322373	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0003	0.0034	0.0032	0.0001	2.35e-05	0	0	0.0001	0.0009	7.504e-05	0.0003	0.0037	0.0001	0.0001	0.0001	0.0002	0.0031	9.141e-05	7.697e-05	0.0019	0.0015	7.215e-05	0	0	0	0	9.413e-05	0.0034	0	0.0005	0.0031	0.535	0.06913	T	0.523	0.10967	T	0.052	0.22494	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	1.69	0.27032	T	0.21	0.04776	N	0.162	0.17691	-1.0128	0.26038	T	0.033	0.14160	T	9	0.00474447	0.00100	T	0.007641	0.20272	T	0.031	0.07369	0.172	0.07774	0.223146558224	0.21909	0.11353299386998926	0.11281	.	.	0.303341627121	0.10901	T	0.003642	0.03050	T	-0.696001	0.00039	T	-0.774007	0.02639	T	0.0192864773054423	0.00634	T	0.375462	0.08961	T	0.069757245	0.15311	0.07369581	0.16044	0.069757245	0.15310	0.07369581	0.16044	-4.769	0.34228	T	.	.	0.076	0.09868	B	.;.	.;.	0.644247	0.10126	6.872	0.74874219935048658	0.10860	0.14610	0.18494	N	AEFDBHCI	0.095398	0.19274	N	-0.900765921511601	0.10824	0.5191996	-0.87980800796481	0.12573	0.6475249	0.999999824720997	0.74766	0.67177	0.52595	0	0.289287	0.05216	2	0.779548	0.98927	0	0.711	0.71501	0	.	.	4.64	3.57	0.40014	-0.195000	0.09546	.	.	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.8693:0.0:0.1307	7.286	0.25514	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002018	0.005102	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	650.83	41	chr19	8324457	.	C	T	650.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.409;DP=209;ExcessHet=0;FS=2.865;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.87;ReadPosRankSum=0.623;SOR=1.27	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	6	0	1	0
chr19	8510851	8510889	CCGCGGGGGCGTCGGGGCGCGGCGGCCCGGCCGCGGGGG	-	exonic	ZNF414	.	nonframeshift deletion	ZNF414:NM_001146175:exon7:c.1061_1099del:p.A354_A366del	.	419	1100	3	0	0	3	0.00136178	.	.	.	2815369	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0018	0	0	0	0.0022	0	0.0008	0.0001153	3	26028	rs768916342	0.0058	0.0044	0.0058	0.0058	0.0062	0.0057	0.0056	0.0061	0.0060	0.0010	0.0024	0.0004	0.0005	0.0101	0.0046	0.0062	0.0037	0.0020	0.0027	0.0026	0.0024	0.0029	0.0040	0.0024	0.0024	0.0036	0.0035	0.0008	0	0.0004	0	0.0002	0.0093	0	0.0040	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1549.24	15	chr19	8510850	.	CCCGCGGGGGCGTCGGGGCGCGGCGGCCCGGCCGCGGGGG	C	1549.24	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.55;DP=142;ExcessHet=0;FS=3.189;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=31.62;ReadPosRankSum=1.91;SOR=1.387	GT:AD:DP:GQ:PL	0/0:22,0:22:48:0,48,720	5	0	1	1
chr19	8698476	8698476	C	A	exonic	ACTL9	.	nonsynonymous SNV	ACTL9:NM_178525:exon1:c.G226T:p.A76S	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266	0.0627116840145	.	.	0.0004	0	0	0	0.0008	0.0006	0	0	0.0002846	44	154602	rs200080008	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	9.782e-05	9.698e-05	9.083e-05	0	0	0	0	0.0004	0.0002	0.0001	0.0003	1.299e-05	0.0001	0.0001	0.0001	0.0001	0.0002	7.089e-05	5.746e-05	9.047e-05	7.012e-05	2.412e-05	0	0	0	0	0.0005	0	0.0002	0	0	0.371	0.11514	T	0.3	0.20357	T	.	.	.	.	.	.	0.722485	0.09923	U	0.831042	0.976882	0.25347	N	.	.	.	-3.35	0.94022	D	0.34	0.03824	N	0.043	0.01577	-0.3643	0.73135	T	0.514	0.81792	D	10	0.095390975	0.17033	T	0.062712	0.68739	D	0.266	0.57999	.	.	0.760343589015	0.75816	0.3871646880490253	0.38631	0.682235262641	0.60098	0.431065380573	0.29354	T	.	.	.	-0.320833	0.06830	T	-0.378621	0.35885	T	0.0261561882068626	0.01427	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.16929	B	.;.	.;.	1.509090	0.19389	14.24	0.93975250381697761	0.24053	0.63149	0.32000	D	AEFDBCI	0.078481	0.15835	N	-0.481251064931417	0.22696	1.213693	-0.341976820147898	0.26758	1.480076	0.995976276748561	0.34444	0.525926	0.21836	0	0.573888	0.26702	0	0.596394	0.31383	0	0.584449	0.35598	0	.	.	3.86	1.51	0.22094	0.193000	0.16921	.	.	0.599000	0.40250	0.920000	0.31959	0.999000	0.35428	0.977000	0.56843	0.1629:0.5763:0.1597:0.1012	3.748	0.08080	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1233.49	37	chr19	8698476	.	C	A	1233.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.123;DP=293;ExcessHet=0;FS=2.466;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-0.948;SOR=0.528	GT:AD:DP:GQ:PL	0/1:57,53:110:99:1244,0,1378	6	0	1	0
chr19	8882357	8882357	T	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon67:c.A41726C:p.H13909P	.	405	1047	70	0	0	70	0.0323475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00792783571824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796735167	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.375e-05	0.0031	2.685e-05	0	5.047e-05	2.28e-06	8.6e-07	8.36e-06	3.13e-06	5.047e-05	0	0	0	0	0	0	0	0	0	0.013	0.53900	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.42	0.33189	T	-2.13	0.48354	N	0.169	0.17966	-0.9248	0.44886	T	0.118	0.41538	T	8	0.10297388	0.18905	T	0.007928	0.21033	T	0.032	0.07718	.	.	0.12205267543	0.11705	0.27533970181248574	0.27446	.	.	0.296447068453	0.09873	T	.	.	.	-0.231789	0.16411	T	-0.570725	0.15383	T	0.117542110383511	0.14187	T	0.136186	0.01076	T	.	.	.	.	.	.	.	.	-5.776	0.44365	T	.	.	0.094	0.14523	B	.	.	1.063717	0.14459	11.03	0.92759947552597488	0.22269	0.03584	0.08802	N	AEFBI	0.044049	0.07038	N	-0.65132752016793	0.17421	0.8963414	-0.848972519843682	0.13313	0.6899027	8.8082630228839E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.64	0.168	0.14298	-0.323000	0.08039	.	.	0.481000	0.22134	0.000000	0.06391	0.000000	0.08366	0.263000	0.23594	0.0:0.1579:0.2494:0.5927	3.103	0.05949	958	0.09170	SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	144.11	42	chr19	8882357	.	T	G	144.11	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.566;DP=490;ExcessHet=0;FS=2.808;MLEAC=1;MLEAF=0.1;MQ=52.87;MQRankSum=-2.655;QD=16.01;ReadPosRankSum=1.2;SOR=0.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:55,0:55:99:.:.:0,106,1800:.	4	0	1	2
chr19	8882360	8882360	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon67:c.C41723A:p.T13908N	.	407	1050	65	0	0	65	0.0300231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00551552653495	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175263485	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.846e-06	0.0029	1.337e-05	0	2.514e-05	0	0	.	.	2.514e-05	0	0	0	0	0	0	0	0	0	0.167	0.23095	T	0.11	0.37310	T	.	.	.	.	.	.	.	.	.	.	0.99995	0.19072	N	.	.	.	1.43	0.32958	T	-1.48	0.36189	N	0.215	0.24010	-0.9114	0.46682	T	0.117	0.41165	T	8	0.12792793	0.24332	T	0.005516	0.14197	T	0.036	0.09122	.	.	0.17948927462	0.17512	0.1012481156749268	0.10055	.	.	0.334889471531	0.15672	T	.	.	.	-0.280333	0.10633	T	-0.640456	0.09636	T	0.303562044834163	0.25150	T	0.377862	0.09067	T	.	.	.	.	.	.	.	.	-8.949	0.67368	D	.	.	0.129	0.27553	B	.	.	1.151135	0.15394	11.82	0.98214552204547234	0.39246	0.04046	0.09490	N	AEFBI	0.032139	0.03572	N	-0.171701422619438	0.34317	1.957244	-0.381415807223033	0.25551	1.405855	1.60312416966797E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.64	1.57	0.22490	0.080000	0.14657	.	.	0.488000	0.22294	0.002000	0.15269	0.022000	0.20871	0.320000	0.24970	0.1933:0.0:0.8067:0.0	4.506	0.11297	958	0.09170	SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	144.11	42	chr19	8882360	.	G	T	144.11	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.819;DP=493;ExcessHet=0;FS=2.808;MLEAC=1;MLEAF=0.1;MQ=52.87;MQRankSum=-2.655;QD=16.01;ReadPosRankSum=1.18;SOR=0.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:55,0:55:99:.:.:0,106,1800:.	4	0	1	2
chr19	8886443	8886443	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon60:c.A41077G:p.R13693G	.	.	.	.	.	.	.	.	0.9988	0.972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0320399113473	0.0004	0.000399361	0.0003	0.0001	0.0004	0	0	0.0004	0.0011	0	0.0002458	38	154602	rs145435147	0.0003	0.0003	0.0003	0.0003	0.0009	0.0003	0.0002	0.0003	0.0003	0.0002	0.0002	0	0	0	0.0009	0.0003	0.0005	0	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	7.221e-05	0	0.0003	0	0	0	0	0.0004	0.0005	0	0.023	0.48186	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.99865	0.22008	N	.	.	.	1.26	0.36330	T	-3.09	0.63438	D	0.325	0.36569	-0.4971	0.68754	T	0.206	0.56458	T	8	0.107492566	0.19969	T	0.03204	0.53969	D	0.222	0.51872	.	.	0.413241256734	0.40943	0.7939213442027925	0.79345	.	.	0.361507296562	0.19606	T	.	.	.	-0.267914	0.11991	T	-0.30065	0.44655	T	0.222223961069853	0.21574	T	0.890711	0.62461	D	.	.	.	.	.	.	.	.	-9.662	0.71863	D	.	.	0.739	0.74578	P	.	.	3.272970	0.44810	22.0	0.99019501322082493	0.50548	0.73913	0.36153	D	AEFBI	0.222737	0.34719	N	0.227961050313687	0.52558	3.429233	0.0711433524856053	0.43104	2.619225	1.09407089491039E-4	0.05123	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.76	2.76	0.31527	1.724000	0.37685	.	.	0.475000	0.22001	1.000000	0.71638	1.000000	0.68203	0.011000	0.09372	0.0:0.0:0.0:1.0	7.387	0.26062	952	0.10565	SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.000000	0.07143	949.45	34	chr19	8886443	.	T	C	949.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.433;DP=320;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.675;SOR=0.802	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,112,1632	6	0	1	0
chr19	8888076	8888076	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon58:c.C40831T:p.P13611S	.	418	1044	60	0	0	60	0.027933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00233003514531	.	.	3.616e-05	0	0.0003	0	0	3.289e-05	0	0	1.29e-05	2	154602	rs746956602	7.602e-06	9.577e-06	5.489e-06	9.747e-06	4.683e-05	4.08e-06	2.98e-06	7.76e-06	2.9e-06	0	4.683e-05	0	0	0	0	8.147e-06	0	0	1.999e-05	6.604e-05	1.302e-05	2.729e-05	4.444e-05	5.31e-06	2.47e-06	1.18e-05	6.27e-06	0	0	0	0	0	0	0	4.444e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.69	0.01694	T	0.77	0.01949	N	0.055	0.02658	-1.0125	0.26133	T	0.008	0.02720	T	7	0.042926937	0.03089	T	0.00233	0.04507	T	0.062	0.17934	.	.	0.0551355673512	0.04727	0.1259688714579419	0.12522	.	.	0.296296924353	0.09851	T	.	.	.	-0.398369	0.02373	T	-0.810006	0.01665	T	0.015891833190803	0.00374	T	0.249275	0.03729	T	.	.	.	.	.	.	.	.	-1.842	0.02637	T	.	.	0.054	0.00321	B	.	.	0.192461	0.05785	2.226	0.4151298757620755	0.03000	0.00011	0.00159	N	AEFBI	0.010308	0.00072	N	-1.14269125215029	0.05901	0.2702541	-1.32095895774873	0.04160	0.1956212	9.77839227391231E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.949	0.949	0.18691	-0.098000	0.10993	.	.	-0.176000	0.10722	0.001000	0.13787	0.001000	0.17328	0.004000	0.06068	0.7048:0.0:0.2952:0.0	3.025	0.05719	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	60.16	62	chr19	8888076	.	G	A	60.16	.	AC=2;AF=0.25;AN=8;BaseQRankSum=2.76;DP=402;ExcessHet=0.4139;FS=4.063;MLEAC=2;MLEAF=0.25;MQ=59.56;MQRankSum=-5.61;QD=0.54;ReadPosRankSum=0;SOR=1.111	GT:AD:DP:GQ:PL	0/0:73,0:73:99:0,100,1800	2	0	2	3
chr19	8888087	8888087	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon58:c.T40820C:p.I13607T	.	417	1041	64	0	0	64	0.0298229	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	8.4e-05	.	1.843e-05	0.0002	0	0	0	0	0	0	6.5e-06	1	154602	rs375722672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	1.51	0.00728	N	0.064	0.03613	-1.0221	0.23031	T	0.007	0.02244	T	7	0.046363264	0.03818	T	0.003776	0.08775	T	0.053	0.14996	.	.	0.0806252709748	0.07271	0.08113719990746966	0.08048	.	.	0.292725682259	0.09321	T	.	.	.	-0.410319	0.01978	T	-0.827171	0.01313	T	0.0205199335667818	0.00752	T	0.121488	0.00940	T	.	.	.	.	.	.	.	.	0.215	0.00281	T	.	.	0.092	0.13503	B	.	.	0.530896	0.08997	5.778	0.92029181334311316	0.21368	0.00015	0.00188	N	AEFBI	0.020964	0.00883	N	-0.812734170393172	0.12984	0.636566	-1.13990611673498	0.06950	0.3363392	1.26604863044529E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.949	-0.566	0.11178	-0.613000	0.05705	.	.	-0.251000	0.07141	0.002000	0.15269	0.000000	0.08366	0.069000	0.16583	0.5985:0.0:0.4015:0.0	4.301	0.10367	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	103.78	58	chr19	8888087	.	A	G	103.78	.	AC=2;AF=0.25;AN=8;BaseQRankSum=3.6;DP=385;ExcessHet=0.4139;FS=2.471;MLEAC=3;MLEAF=0.375;MQ=59.6;MQRankSum=-4.855;QD=1.07;ReadPosRankSum=-0.055;SOR=1.171	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:73,0:73:99:.:.:0,100,1800:.	2	0	2	3
chr19	8888745	8888745	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40754T:p.T13585I	.	393	977	1	2	149	154	0.00255232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00806063036646	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75266616	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	8.066e-05	0.0052	9.833e-05	6.207e-05	0.0003	3.961e-05	2.899e-05	3.435e-05	1.476e-05	0.0001	0	0.0002	0	0.0003	0.0001	0	2.348e-05	0	0	0.007	0.59928	D	0.117	0.36365	T	.	.	.	.	.	.	.	.	.	.	0.999919	0.19599	N	.	.	.	2.21	0.18414	T	-1.31	0.32791	N	0.284	0.32148	-1.0288	0.20843	T	0.047	0.19958	T	8	0.19550985	0.35406	T	0.008061	0.21368	T	0.147	0.38986	.	.	0.15556083564	0.15200	0.2225390080387863	0.22168	.	.	0.375644803047	0.21638	T	.	.	.	-0.16957	0.25299	T	-0.481352	0.24304	T	0.344821783264657	0.26815	T	0.0674933	0.00492	T	.	.	.	.	.	.	.	.	-7.428	0.57102	T	.	.	0.116	0.23360	B	.	.	1.705751	0.21725	15.32	0.9981530341282232	0.89885	0.47447	0.27985	N	AEFBI	0.095609	0.19314	N	-0.156012332511241	0.34978	2.00343	-0.1738091635021	0.32503	1.849856	1.14764749978257E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.25	0.20475	-0.043000	0.11996	.	.	-0.132000	0.13132	0.926000	0.32145	0.000000	0.08366	0.009000	0.08673	0.1321:0.2319:0.6359:0.0	4.503	0.11285	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	264.82	335	chr19	8888745	.	G	A	264.82	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.92;DP=2619;ExcessHet=0.3476;FS=4.512;MLEAC=1;MLEAF=0.083;MQ=56.9;MQRankSum=-6.721;QD=0.45;ReadPosRankSum=-2;SOR=1.242	GT:AD:DP:GQ:PL	0/0:592,0:592:28:0,28,14475	5	0	1	1
chr19	8888763	8888763	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40736T:p.T13579I	.	386	1130	5	1	0	7	0.00308778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0225181638308	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796202949	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0097	0.0001	0.0003	0.0007	0.0001	0.0001	0.0002	9.48e-05	0.0003	0	0.0005	0	0.0007	0.0002	0	7.466e-05	0.0009	0	0.033	0.44358	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.22	0.37052	T	-1.81	0.42575	N	0.404	0.44474	-0.6010	0.64776	T	0.206	0.56485	T	8	0.24742359	0.42022	T	0.022518	0.45416	T	0.147	0.38986	.	.	0.152612264143	0.14878	0.39111607982275465	0.39026	.	.	0.523282647133	0.42088	T	.	.	.	-0.124778	0.32344	T	-0.417012	0.31417	T	0.544527530670166	0.34273	D	0.880912	0.59977	D	.	.	.	.	.	.	.	.	-7.332	0.56422	T	.	.	0.329	0.55117	B	.	.	1.296456	0.16976	12.88	0.99442054032056237	0.64820	0.46543	0.27783	N	AEFDBI	0.122787	0.23810	N	-0.257393938749385	0.30808	1.721402	-0.491271942611007	0.22393	1.216053	6.92005012073932E-5	0.04366	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.95	0.756	0.17569	2.264000	0.42959	.	.	-0.761000	0.03509	0.990000	0.36992	0.209000	0.23629	0.000000	0.00833	0.0:0.0:0.6164:0.3836	8.036	0.29653	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	52.44	363	chr19	8888763	.	G	A	52.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.489;DP=2844;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=54.85;MQRankSum=-2.379;QD=1.34;ReadPosRankSum=1.3;SOR=0.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:553,0:553:99:.:.:0,120,1800:.	6	0	1	0
chr19	8888772	8888772	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40727G:p.H13576R	.	387	1130	4	1	0	6	0.00264784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.01970920909	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796597641	6.847e-07	0.0003	1.363e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	0.0002	0.0067	7.429e-05	0.0002	0.0006	9.463e-05	7.746e-05	0.0001	8.311e-05	9.954e-05	0.0016	0.0004	0	0.0006	0.0001	0	8.473e-05	0.0007	0	0.399	0.10517	T	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.54	0.30133	T	-1.07	0.27876	N	0.198	0.21839	-0.6717	0.61752	T	0.209	0.56826	T	8	0.08854148	0.15256	T	0.019709	0.42141	T	0.070	0.20419	.	.	0.0846915920261	0.08053	0.10730361134637394	0.10659	.	.	0.301812142134	0.10671	T	.	.	.	-0.298934	0.08761	T	-0.667174	0.07791	T	0.0429873021479382	0.04234	T	0.289971	0.05268	T	.	.	.	.	.	.	.	.	-7.328	0.56394	T	.	.	0.079	0.07365	B	.	.	0.305711	0.06811	3.335	0.90875541208019783	0.20124	0.01928	0.05881	N	AEFDBI	0.046718	0.07789	N	-0.451024332831344	0.23705	1.274877	-0.644784429574841	0.18348	0.9797751	1.15187711553299E-4	0.05269	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.95	1.93	0.24985	-1.911000	0.01675	.	.	0.639000	0.52094	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.149:0.0:0.851	4.795	0.12637	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	55.44	363	chr19	8888772	.	T	C	55.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.304;DP=2856;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=54.84;MQRankSum=-2.421;QD=1.46;ReadPosRankSum=0.833;SOR=0.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:568,0:568:99:.:.:0,120,1800:.	6	0	1	0
chr19	8888803	8888803	G	A	exonic	MUC16	.	stopgain	MUC16:NM_024690:exon56:c.C40696T:p.Q13566X	.	387	1065	65	0	5	70	0.0296128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749709179	2.751e-06	0.0003	1.368e-06	4.147e-06	2.346e-05	6.4e-07	4.3e-07	3.89e-06	1.46e-06	0	0	0	0	1.892e-05	0	9.032e-07	0	2.346e-05	0.0003	0.0078	0.0003	0.0003	0.0007	0.0003	0.0002	0.0003	0.0002	0.0004	0	0.0002	0.0003	0.0006	0.0003	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.853	0.84922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382006	0.88838	D	0.310949	0.88697	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.510432	0.97656	37	0.99651539778950882	0.77317	0.04167	0.09661	N	AEFDBI	0.050545	0.08845	N	0.108967690324694	0.46882	2.921777	-0.235756191989301	0.30265	1.702583	7.40119793528929E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.01	0.19044	-1.404000	0.02601	.	.	-0.183000	0.09960	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.0:0.5377:0.4623	7.596	0.27215	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	459.25	294	chr19	8888803	.	G	A	459.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.498;DP=2563;ExcessHet=0.3476;FS=0.885;MLEAC=2;MLEAF=0.143;MQ=57.72;MQRankSum=-7.027;QD=0.48;ReadPosRankSum=0.471;SOR=0.554	GT:AD:DP:GQ:PL	0/0:491,51:542:22:0,22,18956	5	0	2	0
chr19	8899972	8899972	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.A39013G:p.T13005A	.	419	1095	8	0	0	8	0.00363967	0	0.03	.	3210996	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.024	0.00749902169758	.	.	1.661e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs756739393	1.369e-06	1.368e-06	1.362e-06	1.376e-06	4.472e-05	2.3e-07	9e-08	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	0	0	0	2.836e-05	0.0017	0	5.868e-05	2.66e-05	9.63e-06	5.47e-06	.	.	2.66e-05	0	0	0	0	0.0003	0	0	0	0	0.845	0.02774	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	4.67	0.01735	T	1.1	0.01229	N	0.045	0.01740	-0.9255	0.44786	T	0.001	0.00467	T	7	0.021653622	0.00522	T	0.007499	0.19899	T	0.024	0.04979	0.153	0.05648	0.0138822411134	0.00435	0.07225205961657089	0.07162	.	.	0.242049396038	0.02977	T	.	.	.	-0.549186	0.00295	T	-0.829673	0.01268	T	0.0531765688373252	0.06049	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-6.763	0.52283	T	.	.	0.059	0.00834	B	.	.	0.265119	0.06434	2.903	0.15376159983054832	0.00374	0.00009	0.00143	N	AEFBI	0.015378	0.00290	N	-2.18627876915683	0.00082	0.003520834	-2.16957185045865	0.00131	0.005755971	1.89267803303865E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-0.073000	0.11428	.	.	-2.696000	0.00211	0.011000	0.18532	0.000000	0.08366	0.000000	0.00833	0.2938:0.4676:0.0:0.2386	2.013	0.03280	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.25	756.06	34	chr19	8899972	.	T	C	756.06	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.381;DP=962;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=59;MQRankSum=-14.4;QD=1.13;ReadPosRankSum=2.57;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:233,29:262:99:0|1:8899972_T_C:516,0,9645:8899972	3	0	3	1
chr19	8899974	8899974	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39011T:p.T13004I	.	419	1095	8	0	0	8	0.00363967	0.0414	0.372	.	3214956	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.045	0.00118460416831	.	.	2.492e-05	0	8.709e-05	0	0	3.003e-05	0	0	1.94e-05	3	154602	rs778952678	8.896e-06	8.893e-06	9.532e-06	8.253e-06	0.0002	4.96e-06	3.83e-06	4.55e-06	3.32e-06	0	0	0	0	0	0.0002	8.996e-06	1.657e-05	1.16e-05	2.122e-05	0.0017	0	4.395e-05	2.653e-05	5.64e-06	2.57e-06	.	.	2.653e-05	0	0	0	0	0.0002	0	0	0	0	0.011	0.55530	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.43	0.02158	T	-2.06	0.47175	N	0.174	0.18649	-1.0313	0.20034	T	0.017	0.07187	T	8	0.12934974	0.24610	T	0.001185	0.01509	T	0.045	0.12272	.	.	0.128392430309	0.12331	0.11902561227878314	0.11829	.	.	0.318150579929	0.13140	T	.	.	.	-0.323778	0.06593	T	-0.57241	0.15230	T	0.219254165887833	0.21427	T	0.221278	0.02853	T	.	.	.	.	.	.	.	.	-7.441	0.57194	T	.	.	0.144	0.31608	B	.	.	1.710829	0.21783	15.35	0.21896655339985072	0.00856	0.01505	0.04982	N	AEFBI	0.034770	0.04364	N	-0.324931602343095	0.28204	1.553715	-0.621172338705613	0.18950	1.014588	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	0.426000	0.21081	.	.	0.526000	0.24426	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	5.678	0.17030	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.25	735.06	34	chr19	8899974	.	G	A	735.06	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.011;DP=969;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=59.01;MQRankSum=-14.4;QD=1.08;ReadPosRankSum=2.78;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:237,29:266:99:0|1:8899972_T_C:504,0,9813:8899972	3	0	3	1
chr19	8899979	8899979	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39006A:p.S13002R	.	420	1090	12	0	0	12	0.00547445	.	.	.	3192352	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.047	0.00102388544923	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1337261124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.848e-05	0.0019	0	5.902e-05	2.675e-05	9.65e-06	5.49e-06	.	.	2.675e-05	0	0	0	0	0.0003	0	0	0	0	0.005	0.63226	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.6	0.01868	T	-1.27	0.31981	N	0.225	0.25253	-1.0136	0.25784	T	0.015	0.06282	T	8	0.15770155	0.29672	T	0.001024	0.01120	T	0.047	0.12962	0.143	0.04650	0.0920862733494	0.08535	0.15085560951934324	0.15007	.	.	0.265822708607	0.05603	T	.	.	.	-0.261119	0.12768	T	-0.612856	0.11755	T	0.168099865317345	0.18450	T	0.177782	0.01744	T	.	.	.	.	.	.	.	.	-7.626	0.58492	D	.	.	0.224	0.45544	B	.	.	0.282384	0.06594	3.083	0.44924595648877924	0.03489	0.01381	0.04703	N	AEFBI	0.028519	0.02526	N	-0.385439741200818	0.25987	1.414868	-0.673385610186316	0.17627	0.9381749	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	-0.802000	0.04651	.	.	-0.928000	0.02159	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	5.678	0.17030	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.25	864.06	34	chr19	8899979	.	G	T	864.06	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.412;DP=989;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=59.02;MQRankSum=-14.51;QD=1.24;ReadPosRankSum=3.03;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:240,32:272:99:0|1:8899972_T_C:621,0,9981:8899972	3	0	3	1
chr19	8900001	8900001	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38984A:p.G12995E	.	417	1065	39	1	0	41	0.0188853	.	.	.	3221801	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.054	0.00120842336054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796151917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.886e-05	0.0031	1.417e-05	0.0001	0.0002	2.927e-05	2.125e-05	3.799e-05	2.25e-05	0.0001	0	0	0	0	0.0004	0	0	0	0.0002	0.091	0.31834	T	0.064	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.58	0.01901	T	-0.88	0.23808	N	0.103	0.08646	-0.9217	0.45320	T	0.007	0.02282	T	8	0.11394003	0.21421	T	0.001208	0.01583	T	0.054	0.15330	0.142	0.04556	0.101711395817	0.09552	0.1462809682678735	0.14550	.	.	0.19396597147	0.00303	T	.	.	.	-0.32769	0.06288	T	-0.708481	0.05374	T	0.163903206586838	0.18155	T	0.165083	0.01523	T	.	.	.	.	.	.	.	.	-6.443	0.49844	T	.	.	0.084	0.09868	B	.	.	-0.242325	0.02882	0.411	0.27013934638062309	0.01321	0.00389	0.01958	N	AEFBI	0.035362	0.04537	N	-0.780672500721295	0.13814	0.6832987	-1.02483553794802	0.09240	0.4585958	8.79614165805569E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	0.00923	0.13400	-2.573000	0.00987	.	.	-0.349000	0.05595	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.4308:0.0:0.0	3.969	0.08937	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.1667	995.84	169	chr19	8900001	.	C	T	995.84	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.274;DP=1264;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.167;MQ=59.05;MQRankSum=-14.61;QD=1.98;ReadPosRankSum=1.94;SOR=0.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:244,35:279:99:0|1:8900000_C_T:735,0,10122:8900000	4	0	2	1
chr19	8900017	8900017	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38968C:p.D12990H	.	419	985	117	1	0	119	0.0569651	.	.	.	3206446	MUC16-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.000862686160426	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796074138	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	5.687e-05	0.0074	4.13e-05	7.351e-05	7.994e-05	2.742e-05	2.063e-05	2.119e-05	1.087e-05	7.994e-05	0	0	0	0	0.0003	0	3.068e-05	0	0	0.039	0.42487	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	0.49	0.02993	N	0.092	0.07125	-0.9370	0.43088	T	0.005	0.01506	T	8	0.0807575	0.13143	T	8.63E-4	0.00755	T	0.059	0.16972	0.123	0.02942	0.0401082797425	0.02173	0.1591635644427814	0.15837	.	.	0.225260436535	0.01636	T	.	.	.	-0.333606	0.05843	T	-0.716979	0.04943	T	0.120735882775226	0.14502	T	0.155884	0.01367	T	.	.	.	.	.	.	.	.	-5.876	0.45230	T	.	.	0.121	0.25199	B	.	.	-0.654509	0.01430	0.085	0.20142462625377641	0.00711	0.00266	0.01451	N	AEFBI	0.033829	0.04085	N	-1.20853826975404	0.04874	0.2209404	-1.39093098480509	0.03348	0.1559778	2.77626904626202E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-4.258000	0.00301	.	.	-2.147000	0.00375	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3314:0.4146:0.254:0.0	2.997	0.05636	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3333	1284.24	171	chr19	8900017	.	C	G	1284.24	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.145;DP=1182;ExcessHet=2.5225;FS=0.89;MLEAC=4;MLEAF=0.333;MQ=58.94;MQRankSum=-11.81;QD=1.59;ReadPosRankSum=1.3;SOR=0.856	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:257,37:294:99:0|1:8900000_C_T:780,0,10606:8900000	2	0	4	1
chr19	8906310	8906310	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.G38009C:p.S12670T	.	426	1063	32	1	0	34	0.0157407	.	.	YES	2752290	Ovarian_cancer	MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	0.053	0.00246779091888	.	0.000199681	1.681e-05	0.0001	8.66e-05	0	0	0	0	0	3.84e-05	1	26028	rs565425582	1.644e-05	2.941e-05	1.772e-05	1.514e-05	2.52e-05	1.112e-05	9.34e-06	1.296e-05	1.107e-05	0	2.242e-05	0	2.52e-05	0	0	1.98e-05	0	0	4.176e-05	0.0026	5.432e-05	2.855e-05	0.0001	1.799e-05	1.184e-05	3.51e-05	2.123e-05	0.0001	0	0	0	0	0	0	3.066e-05	0	0	1.0	0.00964	T	0.139	0.33666	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.57	0.01917	T	1.25	0.01011	N	0.113	0.10056	-0.9100	0.46854	T	0.002	0.00676	T	8	0.033523023	0.01532	T	0.002468	0.04896	T	0.053	0.14996	0.176	0.08257	0.0297737177859	0.01360	0.07544984530033015	0.07480	.	.	0.284053891897	0.08063	T	.	.	.	-0.547718	0.00301	T	-0.842388	0.01063	T	0.0276999553474265	0.01645	T	0.143886	0.01170	T	.	.	.	.	.	.	.	.	-0.597	0.00646	T	.	.	0.062	0.01215	B	.	.	0.261277	0.06395	2.864	0.32924370785203677	0.01934	0.00006	0.00120	N	AEFBI	0.008428	0.00039	N	-1.59481043750724	0.01290	0.05618882	-1.61343246278626	0.01576	0.07143936	1.53118084225164E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-1.23	0.08977	-0.346000	0.07809	.	.	-1.191000	0.01374	0.001000	0.13787	0.000000	0.08366	0.091000	0.17840	0.1779:0.2378:0.3437:0.2407	0.617	0.00722	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	79.26	75	chr19	8906310	.	C	G	79.26	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.39;DP=531;ExcessHet=0;FS=9.685;MLEAC=1;MLEAF=0.083;MQ=58.6;MQRankSum=-8.573;QD=1.06;ReadPosRankSum=-0.581;SOR=2.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:132,0:132:99:.:.:0,120,1800:.	5	0	1	1
chr19	8906323	8906323	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.C37996T:p.P12666S	.	428	1055	38	1	0	40	0.0186047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00247585488613	.	.	1.687e-05	0.0001	8.658e-05	0	0	0	0	0	1.29e-05	2	154602	rs762490369	1.713e-05	5.336e-05	1.772e-05	1.653e-05	2.52e-05	1.176e-05	9.94e-06	1.379e-05	1.152e-05	0	2.245e-05	0	2.52e-05	0	0	2.071e-05	0	0	4.24e-05	0.0059	4.138e-05	4.346e-05	0.0001	1.822e-05	1.199e-05	3.556e-05	2.154e-05	0.0001	0	0	0	0	0	0	3.104e-05	0	0	0.261	0.16520	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.52	0.01997	T	0.2	0.04861	N	0.092	0.07125	-0.9233	0.45098	T	0.002	0.00676	T	8	0.057982862	0.06746	T	0.002476	0.04896	T	0.027	0.05988	0.184	0.09259	0.0297737177859	0.01360	0.08237352206848209	0.08172	.	.	0.263990014791	0.05375	T	.	.	.	-0.536376	0.00352	T	-0.839115	0.01112	T	0.0242580187876096	0.01178	T	0.180682	0.01803	T	.	.	.	.	.	.	.	.	0.883	0.00148	T	.	.	0.076	0.06069	B	.	.	0.362648	0.07355	3.971	0.31856550423288121	0.01817	0.00006	0.00120	N	AEFBI	0.009687	0.00059	N	-1.5920726816332	0.01304	0.05680634	-1.57521878403105	0.01808	0.08232029	9.67824463248396E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	0.419	0.15657	-0.191000	0.09598	.	.	-0.953000	0.02023	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.562:0.0:0.438:0.0	4.268	0.10218	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	100.28	83	chr19	8906323	.	G	A	100.28	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.066;DP=644;ExcessHet=0;FS=2.18;MLEAC=1;MLEAF=0.083;MQ=58.94;MQRankSum=-9.027;QD=1.21;ReadPosRankSum=0.539;SOR=0.865	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:132,0:132:99:.:.:0,120,1800:.	5	0	1	1
chr19	8906325	8906325	A	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.T37994G:p.I12665S	.	429	1045	47	1	0	49	0.0229079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0038760848155	.	.	.	.	.	.	.	.	.	.	.	.	.	rs759086518	0	3.625e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.251e-05	0.0063	4.15e-05	4.357e-05	0.0002	1.826e-05	1.202e-05	3.56e-05	2.156e-05	0.0001	0	0	0	0.0002	0	0	1.556e-05	0	0	0.826	0.02913	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	0.44	0.03243	N	0.074	0.04790	-0.8304	0.53276	T	0.002	0.00738	T	8	0.04098645	0.02714	T	0.003876	0.09086	T	0.018	0.03083	0.31	0.28289	0.170165803431	0.16609	0.11517879774076815	0.11445	.	.	0.232001110911	0.02120	T	.	.	.	-0.408333	0.02040	T	-0.824318	0.01367	T	0.0416706942861189	0.03995	T	0.152385	0.01298	T	.	.	.	.	.	.	.	.	0.068	0.00326	T	.	.	0.085	0.10400	B	.	.	-0.401111	0.02208	0.221	0.45356006519564063	0.03554	0.00037	0.00318	N	AEFBI	0.009398	0.00054	N	-2.70207499388071	0.00005	0.0002332206	-2.71802947991178	0.00007	0.000320448	0.0912899574800445	0.16130	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-2.96	0.05212	-5.644000	0.00129	.	.	-4.429000	0.00030	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1528:0.3792:0.4679:0.0	7.234	0.25234	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	100.28	83	chr19	8906325	.	A	C	100.28	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.279;DP=644;ExcessHet=0;FS=2.18;MLEAC=1;MLEAF=0.083;MQ=58.94;MQRankSum=-9.027;QD=1.21;ReadPosRankSum=0.718;SOR=0.865	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:132,0:132:99:.:.:0,120,1800:.	5	0	1	1
chr19	8906329	8906329	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.T37990C:p.W12664R	.	426	1037	58	1	0	60	0.0281162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00123485330843	.	.	1.69e-05	0.0001	8.66e-05	0	0	0	0	0	3.84e-05	1	26028	rs752664873	1.713e-05	7.251e-05	1.909e-05	1.516e-05	2.52e-05	1.176e-05	9.94e-06	1.379e-05	1.152e-05	0	2.246e-05	0	2.52e-05	0	0	2.071e-05	0	0	9.122e-05	0.0074	9.589e-05	8.632e-05	0.0002	5.38e-05	4.211e-05	6.784e-05	4.563e-05	0.0002	0	0	0	0.0002	0.0001	0	7.725e-05	0	0	1.0	0.00964	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.56	0.29602	T	1.73	0.00557	N	0.164	0.17278	-1.0123	0.26196	T	0.021	0.08917	T	8	0.05845517	0.06874	T	0.001235	0.01633	T	0.022	0.04323	0.511	0.60846	0.0666544352282	0.05500	0.12290162140986033	0.12216	.	.	0.17153711617	0.00038	T	.	.	.	-0.364945	0.03858	T	-0.761995	0.03041	T	0.0350373052446737	0.02814	T	0.0657934	0.00479	T	.	.	.	.	.	.	.	.	0.629	0.00188	T	.	.	0.081	0.08417	B	.	.	0.120328	0.05179	1.696	0.50828146212189185	0.04453	0.00012	0.00170	N	AEFBI	0.011720	0.00110	N	-2.20480432650005	0.00075	0.003199722	-2.24327977203405	0.00089	0.003930338	8.9415780060643E-4	0.07974	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-2.96	0.05212	-1.082000	0.03510	.	.	-6.395000	0.00004	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5741:0.0:0.2467:0.1792	4.013	0.09120	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	158.85	86	chr19	8906329	.	A	G	158.85	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.596;DP=686;ExcessHet=0.3476;FS=15.295;MLEAC=2;MLEAF=0.167;MQ=59.01;MQRankSum=-11.16;QD=0.75;ReadPosRankSum=-0.005;SOR=1.851	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:155,10:165:47:0|1:8906329_A_G:0,47,6525:8906329	4	0	2	1
chr19	8908637	8908637	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37574C:p.G12525A	.	425	921	175	1	0	177	0.0876672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00100971464853	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796118737	0	1.984e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.704e-06	0.0012	0	1.379e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.069	0.35537	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	-1.0	0.26422	N	0.149	0.15187	-1.0489	0.14705	T	0.019	0.07893	T	8	0.14229593	0.27028	T	0.00101	0.01096	T	0.092	0.26621	0.068	0.00352	0.0920862733494	0.08535	0.09297556608109382	0.09229	.	.	0.207300364971	0.00702	T	.	.	.	-0.324618	0.06526	T	-0.704068	0.05606	T	0.128357648849487	0.15229	T	0.250075	0.03765	T	.	.	.	.	.	.	.	.	-9.338	0.69846	D	.	.	0.128	0.27222	B	.	.	0.716944	0.10859	7.536	0.51191884600897364	0.04518	0.02560	0.07095	N	AEFBI	0.024210	0.01462	N	-0.258816728321443	0.30752	1.717725	-0.553394696242798	0.20716	1.117387	2.41537016268443E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.166000	0.09943	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	6.239	0.19989	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	770.05	105	chr19	8908637	.	C	G	770.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.11;DP=887;ExcessHet=1.1394;FS=9.879;MLEAC=3;MLEAF=0.25;MQ=58.57;MQRankSum=-9.237;QD=1.74;ReadPosRankSum=-0.167;SOR=1.813	GT:AD:DP:GQ:PL	0/0:180,0:180:99:0,120,1800	3	0	3	1
chr19	8908644	8908644	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37567C:p.D12523H	.	422	906	191	3	0	197	0.0980587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00120507919294	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796881038	6.844e-07	2.805e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.682e-06	0.0013	0	1.372e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.555	0.06482	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.53	0.01980	T	-0.67	0.19297	N	0.127	0.12055	-0.9652	0.38171	T	0.005	0.01833	T	8	0.059954166	0.07290	T	0.001205	0.01558	T	0.015	0.02232	.	.	0.0401082797425	0.02173	0.17377359918076668	0.17297	.	.	0.218874275684	0.01246	T	.	.	.	-0.367293	0.03734	T	-0.765368	0.02923	T	0.0819785980810491	0.10239	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-8.635	0.65320	D	.	.	0.155	0.34383	B	.	.	-0.155485	0.03325	0.581	0.2311562001233356	0.00962	0.00236	0.01316	N	AEFBI	0.021935	0.01036	N	-1.22951270346983	0.04577	0.2068566	-1.43744946049098	0.02886	0.1335886	3.83668398290725E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.84	0.05408	-3.238000	0.00603	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.4784:0.3304:0.0:0.1912	2.526	0.04405	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	698.05	105	chr19	8908644	.	C	G	698.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.997;DP=901;ExcessHet=1.1394;FS=12.178;MLEAC=3;MLEAF=0.25;MQ=58.31;MQRankSum=-9.345;QD=1.61;ReadPosRankSum=0.298;SOR=1.909	GT:AD:DP:GQ:PL	0/0:180,0:180:99:0,120,1800	3	0	3	1
chr19	8909407	8909407	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon21:c.T37412C:p.L12471P	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0134266872253	.	0.000998403	0.0009	0	0.0002	0	0	1.498e-05	0.0022	0.0059	0.000705	109	154602	rs377670001	0.0003	0.0003	0.0002	0.0005	0.0055	0.0003	0.0003	0.0051	0.0049	0	0	0	0	0	0.0005	0	0.0002	0.0055	0.0002	0.0002	0.0002	0.0002	0.0054	0.0001	0.0001	0.0038	0.0032	0	0	0	0	0	0	0	0	0	0.0054	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.969279	0.38717	D	.	.	.	1.68	0.27184	T	-5.0	0.82341	D	0.321	0.36148	-0.5551	0.66591	T	0.177	0.52256	T	8	0.0131135285	0.00279	T	0.013427	0.32827	T	0.156	0.40720	0.629	0.76478	0.371344866733	0.36741	0.23508458568727364	0.23423	.	.	0.368683367968	0.20643	T	.	.	.	-0.39004	0.02689	T	-0.330984	0.41360	T	0.31683182670962	0.25693	T	0.712529	0.32403	T	.	.	.	.	.	.	.	.	-8.298	0.63082	D	.	.	0.279	0.51262	B	.	.	1.827899	0.23228	15.93	0.73820458536572464	0.10467	0.17059	0.19671	N	AEFBI	0.236852	0.35923	N	0.173040058461067	0.49906	3.18607	-0.0735789029116334	0.36486	2.124011	3.37487807728716E-4	0.06583	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.32	3.32	0.37134	3.056000	0.49616	.	.	0.398000	0.20534	0.060000	0.21767	0.929000	0.28499	0.008000	0.08271	1.0:0.0:0.0:0.0	8.642	0.33145	934	0.15400	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.007576	0.07143	3740.44	47	chr19	8909407	.	A	G	3740.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.38;DP=603;ExcessHet=0;FS=2.091;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=3.67;SOR=0.719	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	6	0	1	0
chr19	8910503	8910508	CCATAA	-	exonic	MUC16	.	nonframeshift deletion	MUC16:NM_024690:exon19:c.37139_37144del:p.I12380_A12382delinsT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	.	0	9.577e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.015e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	31.11	152	chr19	8910502	.	GCCATAA	G	31.11	.	AC=1;AF=0.125;AN=8;BaseQRankSum=0.674;DP=1076;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.125;MQ=57.55;MQRankSum=-0.674;QD=15.55;ReadPosRankSum=-0.674;SOR=0.693	GT:AD:DP:GQ:PL	0/0:158,0:158:99:0,120,1800	3	0	1	3
chr19	8913808	8913808	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon17:c.A37049G:p.Q12350R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00242608576165	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs759620819	4.789e-06	5.472e-06	4.084e-06	5.502e-06	2.236e-05	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0	5.397e-06	0	0	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.132	0.26519	T	0.057	0.46406	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.58	0.01901	T	0.33	0.03889	N	0.086	0.06322	-0.9020	0.47782	T	0.004	0.01226	T	8	0.039474815	0.02440	T	0.002426	0.04757	T	0.029	0.06676	0.199	0.11247	0.0138822411134	0.00435	0.12891028179309774	0.12816	.	.	0.163704261184	0.00015	T	.	.	.	-0.461877	0.00957	T	-0.818366	0.01486	T	0.101391582637809	0.12509	T	0.0669933	0.00488	T	.	.	.	.	.	.	.	.	-0.541	0.00609	T	.	.	0.059	0.00793	B	.	.	-0.294309	0.02643	0.335	0.15538801178461156	0.00384	0.00338	0.01756	N	AEFBI	0.021699	0.00995	N	-2.14677206213676	0.00101	0.004315622	-2.20892277407453	0.00107	0.004697573	0.00161392486598595	0.08707	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.68	-5.35	0.02488	-1.054000	0.03607	.	.	-1.475000	0.01066	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.489:0.0:0.511	9.540	0.38411	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	37.66	78	chr19	8913808	.	T	C	37.66	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.634;DP=479;ExcessHet=0;FS=6.395;MLEAC=1;MLEAF=0.071;MQ=58.87;MQRankSum=-6.433;QD=0.88;ReadPosRankSum=-1.249;SOR=1.366	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:64,0:64:99:.:.:0,109,1800:.	6	0	1	0
chr19	8913809	8913809	G	A	exonic	MUC16	.	stopgain	MUC16:NM_024690:exon17:c.C37048T:p.Q12350X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1343794696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.647	0.65844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299787	0.82950	D	0.192847	0.82730	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	Low	9.825524	0.99351	43	0.91393941691125624	0.20660	0.01948	0.05923	N	AEFBI	0.019628	0.00699	N	-0.0950171539886091	0.37610	2.190638	-0.572942064464123	0.20199	1.087212	7.90230937884117E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.68	-4.17	0.03595	0.024000	0.13447	.	.	-0.392000	0.05338	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1432:0.1948:0.2692:0.3929	0.906	0.01203	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	37.64	78	chr19	8913809	.	G	A	37.64	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.292;DP=480;ExcessHet=0;FS=6.375;MLEAC=1;MLEAF=0.071;MQ=58.88;MQRankSum=-6.433;QD=0.88;ReadPosRankSum=-1.085;SOR=1.371	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:64,0:64:99:.:.:0,109,1800:.	6	0	1	0
chr19	8916542	8916542	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon13:c.C36668T:p.T12223M	.	427	1094	1	0	0	1	0.00045683	0.0034	0.204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00148456705871	.	.	2.592e-05	0	0	0	0	4.643e-05	0	0	3.88e-05	6	154602	rs753411626	3.559e-05	3.557e-05	3.541e-05	3.577e-05	4.498e-05	2.764e-05	2.502e-05	3.46e-05	3.122e-05	0	0	0	0	0	0	4.498e-05	0	2.321e-05	3.942e-05	3.94e-05	3.854e-05	4.034e-05	7.349e-05	1.715e-05	1.129e-05	2.846e-05	1.858e-05	2.412e-05	0	0	0	0	0	0	7.349e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.19	0.02716	T	-1.08	0.28084	N	0.2	0.22098	-0.9931	0.31801	T	0.010	0.03582	T	8	0.12389189	0.23525	T	0.001485	0.02267	T	0.064	0.18567	0.143	0.04650	0.238096912614	0.23440	0.29077744457688814	0.28990	.	.	0.260281860828	0.04924	T	.	.	.	-0.35377	0.04494	T	-0.645312	0.09286	T	0.139206132044484	0.16206	T	0.330567	0.06924	T	.	.	.	.	.	.	.	.	-6.75	0.52186	T	.	.	0.094	0.14614	B	.	.	1.317889	0.17215	13.03	0.78525978977128186	0.12339	0.01323	0.04570	N	AEFBI	0.030636	0.03124	N	-0.583606879451416	0.19443	1.017617	-0.809166602034911	0.14274	0.7449762	8.92915016831179E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.39	0.277	0.14921	0.119000	0.15456	.	.	0.526000	0.24426	0.007000	0.17678	0.000000	0.08366	0.010000	0.09038	0.2637:0.0:0.7363:0.0	3.687	0.07866	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1441.44	39	chr19	8916542	.	G	A	1441.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.73;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.945;SOR=0.691	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr19	8946802	8946802	T	-	exonic	MUC16	.	frameshift deletion	MUC16:NM_024690:exon3:c.29968delA:p.R9990Dfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	54.4	73	chr19	8946801	.	CT	C	54.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=607;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-0.674;SOR=0.368	GT:AD:DP:GQ:PL	0/0:131,0:131:99:0,120,1800	6	0	1	0
chr19	8951955	8951955	A	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.T24815G:p.L8272R	.	412	1101	9	0	0	9	0.00407056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	.	0.0002	0.00239617	0.0011	0	0.0003	0	0	0.0002	0.0022	0.0072	0.0009638	149	154602	rs201558618	0.0006	0.0006	0.0003	0.0008	0.0072	0.0005	0.0005	0.0068	0.0066	0	0.0001	0	0	0	0.0033	0.0001	0.0005	0.0072	0.0004	0.0004	0.0003	0.0004	0.0083	0.0003	0.0003	0.0063	0.0056	2.406e-05	0	0.0002	0	0.0002	0	0	0.0002	0.0005	0.0083	0.013	0.53900	D	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.24	0.36691	T	-0.19	0.09965	N	0.183	0.19861	-1.0015	0.29488	T	0.052	0.22230	T	8	0.005577415	0.00123	T	.	.	.	0.076	0.22200	.	.	0.0762999501168	0.06990	0.051510485554832085	0.05093	.	.	0.188459247351	0.00199	T	.	.	.	-0.585983	0.00177	T	-0.610075	0.11978	T	0.0427523429013367	0.04192	T	0.19768	0.02201	T	.	.	.	.	.	.	.	.	-6.627	0.51259	T	.	.	0.163	0.36073	B	.	.	-0.290650	0.02658	0.339	0.35847109160498031	0.02273	0.02259	0.06535	N	AEFBI	0.028176	0.02435	N	-1.14330861850654	0.05890	0.2697483	-1.36494604592118	0.03632	0.1698581	0.00182748370770773	0.08920	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.55	-4.6	0.03148	-1.027000	0.03703	.	.	-1.600000	0.00894	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7157:0.0:0.2843:0.0	8.216	0.30671	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.007576	0.07143	2273.44	67	chr19	8951955	.	A	C	2273.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.546;DP=631;ExcessHet=0;FS=1.83;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=1.33;SOR=0.858	GT:AD:DP:GQ:PL	0/0:122,0:122:99:0,120,1800	6	0	1	0
chr19	8979791	8979791	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon1:c.G1348A:p.E450K	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00128150132885	.	0.00199681	0.0007	0.0003	8.639e-05	0.0001	0	0	0.0033	0.0046	0.0006404	99	154602	rs187576768	0.0003	0.0003	0.0002	0.0005	0.0044	0.0003	0.0003	0.0041	0.0039	0.0003	0	0	2.519e-05	0	0.0005	5.486e-05	0.0005	0.0044	0.0003	0.0003	0.0001	0.0004	0.0052	0.0002	0.0002	0.0036	0.0031	0.0004	0	0	0	0	0	0	0	0.0005	0.0052	0.0	0.91255	D	0.035	0.52389	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	4.2	0.02689	T	-0.96	0.25551	N	0.126	0.11912	-0.9174	0.45904	T	0.004	0.01192	T	8	0.005801767	0.00129	T	0.001282	0.01759	T	0.056	0.15993	.	.	0.0716867268079	0.06686	0.05036023235921534	0.04979	.	.	0.229001998901	0.01895	T	.	.	.	-0.602052	0.00142	T	-0.636766	0.09908	T	0.0259355214328966	0.01397	T	0.349965	0.07784	T	.	.	.	.	.	.	.	.	-1.801	0.02512	T	.	.	0.160	0.35435	B	.	.	1.075058	0.14579	11.14	0.6614826107488192	0.07975	0.00025	0.00253	N	AEFBI	0.012650	0.00144	N	-0.953732944587806	0.09609	0.4555195	-1.12467393925365	0.07231	0.3509434	1.23905830076698E-4	0.05386	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.45	-1.26	0.08892	0.601000	0.23818	.	.	0.333000	0.19617	0.000000	0.06391	0.000000	0.08366	0.048000	0.15020	0.0:0.2619:0.3277:0.4104	2.158	0.03584	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1065.49	47	chr19	8979791	.	C	T	1065.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.1;DP=471;ExcessHet=0;FS=0.721;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=1.3;SOR=0.585	GT:AD:DP:GQ:PL	0/1:68,44:112:99:1076,0,1612	6	0	1	0
chr19	8980773	8980773	C	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon1:c.G366T:p.M122I	.	427	1092	3	0	0	3	0.00137174	.	.	.	2811541	not_provided|MUC16-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.008	0.000805683190073	0.0053	0.00139776	0.0048	0.0011	0.0018	0	0.0030	0.0077	0.0033	0.0012	0.0050905	787	154602	rs149255523	0.0069	0.0069	0.0071	0.0066	0.0083	0.0068	0.0067	0.0082	0.0081	0.0012	0.0023	0.0002	2.519e-05	0.0033	0.0012	0.0083	0.0062	0.0007	0.0040	0.0040	0.0045	0.0036	0.0073	0.0038	0.0037	0.0068	0.0066	0.0015	0	0.0013	0	0	0.0022	0	0.0073	0.0024	0.0008	0.036	0.43393	D	0.254	0.23433	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	4.46	0.02102	T	-0.46	0.14978	N	0.046	0.01825	-0.9145	0.46285	T	0.003	0.00929	T	8	0.005569577	0.00123	T	8.06E-4	0.00629	T	0.008	0.00669	0.259	0.20159	0.0297737177859	0.01360	0.041948953364198995	0.04139	.	.	0.252386391163	0.04022	T	.	.	.	-0.718011	0.00028	T	-0.78987	0.02168	T	0.000680259322392347	0.00006	T	0.241376	0.03476	T	.	.	.	.	.	.	.	.	-3.448	0.15711	T	.	.	0.170	0.37407	B	.	.	-0.105336	0.03609	0.710	0.3625406590914334	0.02322	0.00911	0.03557	N	AEFBI	0.028473	0.02516	N	-1.30581530448491	0.03608	0.1614667	-1.41003759523337	0.03151	0.1464158	1.53248552172924E-4	0.05650	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.09	-1.74	0.07622	-1.068000	0.03558	.	.	0.333000	0.19617	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.0:0.4256:0.3244:0.2499	2.442	0.04223	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	2190.46	38	chr19	8980773	.	C	A	2190.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.346;DP=344;ExcessHet=0;FS=6.444;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=0.12;SOR=1.207	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1620	6	0	1	0
chr19	9342953	9342953	C	G	exonic	ZNF559	.	nonsynonymous SNV	ZNF559:NM_001202406:exon6:c.C1694G:p.A565G,ZNF559:NM_001202407:exon6:c.C1376G:p.A459G,ZNF559:NM_032497:exon7:c.C1502G:p.A501G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00136038134136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.007	0.69154	D	0.354	0.33710	B	0.333	0.42166	B	.	.	.	.	1	0.08975	N	0.815	0.20815	L	2.55	0.13795	T	-2.77	0.58733	D	0.082	0.05799	-1.0384	0.17802	T	0.038	0.16246	T	9	0.17839259	0.32921	T	0.00136	0.01961	T	0.049	0.13647	0.701	0.83777	0.0920862733494	0.08535	0.011533392844399732	0.01113	0.00809239884712	0.00726	0.273878157139	0.06653	T	0.031742	0.22178	T	-0.33551	0.05705	T	-0.719714	0.04809	T	0.444570988416672	0.30597	T	0.90081	0.65783	D	0.15139048	0.34418	0.14850295	0.35102	0.15139048	0.34418	0.14850295	0.35101	-7.074	0.54573	T	.	.	0.194	0.42156	B	.;.;.;.	.;.;.;.	0.331013	0.07050	3.615	0.9767492954289223	0.35276	0.00003	0.00079	N	AEFDBHCI	0.062252	0.11956	N	-1.01265337762053	0.08341	0.3907311	-1.14960956201753	0.06775	0.32726	0.00213526174250699	0.09181	0.67177	0.52595	0	0.659464	0.62310	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	2.22	-1.32	0.08721	0.397000	0.20608	.	.	-0.459000	0.05119	0.000000	0.06391	0.000000	0.08366	0.563000	0.30483	0.0:0.3384:0.3953:0.2664	3.882	0.08587	970	0.06235	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1476.44	39	chr19	9342953	.	C	G	1476.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.718;DP=296;ExcessHet=0;FS=0.739;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=0.341;SOR=0.555	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	6	0	1	0
chr19	9811357	9811357	G	A	exonic	FBXL12	.	nonsynonymous SNV	FBXL12:NM_001316936:exon2:c.C421T:p.R141C,FBXL12:NM_001316941:exon2:c.C361T:p.R121C,FBXL12:NM_001316937:exon3:c.C361T:p.R121C,FBXL12:NM_001316940:exon3:c.C361T:p.R121C,FBXL12:NM_017703:exon3:c.C520T:p.R174C,FBXL12:NM_001316938:exon4:c.C361T:p.R121C,FBXL12:NM_001316939:exon4:c.C361T:p.R121C,FBXL12:NM_001316942:exon4:c.C361T:p.R121C	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.00324216057157	.	0.000399361	0.0001	0	0	0.0001	0.0002	1.564e-05	0	0.0007	0.0001035	16	154602	rs562812843	5.689e-05	5.678e-05	3.001e-05	8.402e-05	0.0007	4.685e-05	4.309e-05	0.0006	0.0005	2.987e-05	0	0	2.519e-05	9.844e-05	0.0002	8.993e-06	4.97e-05	0.0007	4.595e-05	4.593e-05	2.569e-05	6.712e-05	0.0008	2.107e-05	1.526e-05	0.0003	0.0002	2.405e-05	0	0	0	0.0002	0	0	1.47e-05	0	0.0008	0.003	0.68238	D	0.024	0.92824	D	0.999	0.77913	D	0.635	0.51908	P	0.019178	0.27317	N	0.331338	0.999998	0.08975	N	1.445	0.36358	L	2.25	0.17761	T	-2.37	0.52289	N	0.185	0.42050	-1.0346	0.18983	T	0.025	0.10643	T	9	0.053542137	0.05563	T	0.003242	0.07147	T	0.145	0.38592	0.601	0.73226	0.426551566703	0.42274	0.6268427262208456	0.62617	0.36432990352	0.38046	0.821000993252	0.85180	D	0.075928	0.35296	T	-0.403208	0.02206	T	-0.444693	0.28285	T	0.135745793581009	0.15903	T	0.816918	0.47330	T	0.10145692	0.23966	0.079696566	0.17964	0.10145692	0.23966	0.079696566	0.17964	-4.629	0.33824	T	.	.	0.099	0.16843	B	.;.;.	.;.;.	3.841797	0.55601	23.6	0.9982794283756149	0.91026	0.06290	0.12284	N	AEFDBCI	0.061173	0.11675	N	-0.337120736970128	0.27747	1.524928	-0.444036312091643	0.23718	1.294932	0.0367746655483384	0.14261	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.76	-0.0742	0.13065	1.767000	0.38131	.	.	0.676000	0.76740	0.014000	0.18986	1.000000	0.68203	0.982000	0.59238	0.0905:0.1543:0.4381:0.3171	2.919	0.05408	906	0.23090	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	2359.44	43	chr19	9811357	.	G	A	2359.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.389;DP=407;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=1.34;SOR=0.663	GT:AD:DP:GQ:PL	0/1:113,100:213:99:2370,0,2652	6	0	1	0
chr19	10096146	10096146	C	T	exonic	ANGPTL6	.	nonsynonymous SNV	ANGPTL6:NM_001321411:exon2:c.G418A:p.G140R,ANGPTL6:NM_031917:exon2:c.G418A:p.G140R	.	437	1082	2	0	1	3	0.000923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.0794886600192	.	.	0.0002	0	0	0	0	0	0	0.0013	3.88e-05	6	154602	rs536265958	2.473e-05	3.284e-05	6.439e-06	4.393e-05	0.0005	1.754e-05	1.523e-05	0.0004	0.0003	0	0	0	0	3.456e-05	0	2.019e-06	0	0.0005	6.593e-06	6.565e-06	0	1.349e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.029	0.45756	D	0.054	0.47581	T	0.935	0.52277	P	0.166	0.35067	B	0.237213	0.15790	N	0.584217	0.962491	0.26064	N	0.895	0.22405	L	0.36	0.57880	T	0.94	0.01529	N	0.124	0.12055	-1.0208	0.23454	T	0.064	0.26456	T	10	0.07851571	0.12524	T	0.079489	0.73246	D	0.106	0.30130	0.303	0.27164	0.656282026865	0.65341	0.24166994945176548	0.24080	.	.	0.878594338894	0.93771	D	0.010437	0.30431	T	-0.298552	0.08796	T	-0.354247	0.38717	T	0.1796560936846	0.19213	T	0.737326	0.35372	T	0.15770872	0.35521	0.16039993	0.37361	0.15770872	0.35520	0.16039993	0.37360	-4.702	0.33428	T	.	.	0.372	0.57957	A	.;.;.	.;.;.	2.798576	0.36809	20.3	0.99751975994370179	0.84305	0.93736	0.59044	D	ALL	0.338003	0.43561	N	-0.0799227281858778	0.38274	2.239114	-0.0391568206571873	0.37964	2.230038	0.999999999999997	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.606814	0.37721	0	0.765457	0.99879	0	.	.	4.36	4.36	0.51643	2.459000	0.44680	3.591000	0.39190	0.499000	0.22661	0.261000	0.24959	0.538000	0.25400	0.106000	0.18562	0.0:1.0:0.0:0.0	15.798	0.78197	892	0.26670	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	420.66	19	chr19	10096146	.	C	T	420.66	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.677;DP=170;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-0.306;SOR=0.793	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,105,1575	6	0	1	0
chr19	10162750	10162750	T	C	splicing	DNMT1	NM_001379:exon12:c.879-2A>G;NM_001318731:exon13:c.564-2A>G;NM_001130823:exon13:c.927-2A>G;NM_001318730:exon12:c.879-2A>G	.	.	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, Autosomal dominant;Neuropathy, hereditary sensory, type IE, Autosomal dominant	.	.	.	.	.	.	.	1.0000	0.868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.754593	0.93398	33	0.9792217547806894	0.36893	0.90457	0.51649	D	AEFBI	.	.	.	0.723905580131269	0.81201	7.466664	0.467599950858185	0.65855	4.876759	0.00711645922865912	0.11388	0.115753	0.02995	0	0.12628	0.03447	0	0.137589	0.03823	0	0.117559	0.03655	0	0.915251	0.58017	3.96	3.96	0.45097	2.959000	0.48846	6.842000	0.56718	0.648000	0.52827	0.991000	0.37257	1.000000	0.68203	0.594000	0.31239	0.0:0.0:0.0:1.0	9.516	0.38271	911	0.21964	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	61.44	44	chr19	10162750	.	T	C	61.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.38;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.36;ReadPosRankSum=1.38;SOR=2.303	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1056	6	0	1	0
chr19	10284465	10284465	G	A	exonic	ICAM1	.	nonsynonymous SNV	ICAM1:NM_000201:exon5:c.G988A:p.V330M	.	0	1508	13	1	0	15	0.00494886	.	.	.	727843	ICAM1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.078	0.00794922490352	0.0016	0.00159744	0.0021	0	0.0012	0	0.0003	0.0023	0.0045	0.0050	0.0018758	290	154602	rs146134321	0.0015	0.0015	0.0014	0.0017	0.0055	0.0015	0.0014	0.0040	0.0038	0.0002	0.0010	0.0036	0	0.0002	0.0055	0.0014	0.0017	0.0043	0.0013	0.0013	0.0013	0.0013	0.0043	0.0011	0.0011	0.0029	0.0024	0.0002	0	0.0008	0.0046	0.0002	0.0002	0.0034	0.0019	0.0028	0.0043	0.001	0.78490	D	0.002	0.79402	D	0.987	0.73220	D	0.913	0.64886	D	0.033892	0.24840	N	0.192276	0.999989	0.18198	N	2.145	0.60081	M	2.78	0.11298	T	-2.69	0.58733	D	0.344	0.38541	-1.1178	0.02476	T	0.059	0.24760	T	10	0.006626159	0.00150	T	0.007949	0.21084	T	0.078	0.22779	.	.	0.608747212676	0.60560	0.39170349706882157	0.39085	0.652655157273	0.58445	0.453022837639	0.32357	T	0.148967	0.48776	T	-0.472956	0.00815	T	-0.451467	0.27535	T	0.0384687512636429	0.03416	T	0.775622	0.40735	T	0.4935675	0.66715	0.3004436	0.56078	0.4935675	0.66716	0.3004436	0.56077	-7.803	0.59720	D	.	.	0.275	0.51165	B	.;.	.;.	2.936750	0.39031	20.9	0.99699861672834467	0.80522	0.42960	0.26993	N	AEFDBCI	0.137429	0.25841	N	-0.000210577087281644	0.41845	2.510376	-0.21386782100428	0.31037	1.752842	0.266614902363048	0.18848	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	4.1	1.76	0.23776	1.339000	0.33489	4.162000	0.42217	0.676000	0.76740	0.820000	0.29989	1.000000	0.68203	0.003000	0.05239	0.1171:0.2129:0.6701:0.0	5.135	0.14262	592	0.68746	Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007049	0.000000	0.005435	0.005848	0.000000	0.008621	0.012195	0.007576	0.07143	1255.53	34	chr19	10284465	.	G	A	1255.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.857;DP=268;ExcessHet=0;FS=1.751;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=-1.037;SOR=0.51	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1175	6	0	1	0
chr19	10338789	10338789	C	A	exonic	ICAM3	.	nonsynonymous SNV	ICAM3:NM_001320605:exon2:c.G236T:p.G79V,ICAM3:NM_001320606:exon2:c.G5T:p.G2V,ICAM3:NM_002162:exon2:c.G236T:p.G79V	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	.	7.7e-05	0.00239617	0.0021	0.0002	8.64e-05	0	0	4.497e-05	0.0033	0.0148	0.0017917	277	154602	rs145741513	0.0009	0.0009	0.0005	0.0014	0.0149	0.0009	0.0009	0.0142	0.0140	2.987e-05	0	0	2.519e-05	0	0	2.428e-05	0.0005	0.0149	0.0005	0.0005	0.0004	0.0007	0.0137	0.0004	0.0004	0.0110	0.0101	7.216e-05	0	0	0	0	0	0	0.0001	0	0.0137	0.051	0.39334	T	0.091	0.51421	T	0.986	0.61523	D	0.937	0.67262	D	0.215770	0.16257	N	0.610776	0.857715	0.39861	D	2.83	0.82355	M	2.38	0.15843	T	-4.06	0.74582	D	0.468	0.50418	-0.9579	0.39571	T	0.104	0.38267	T	10	0.014370769	0.00302	T	.	.	.	0.254	0.56428	.	.	0.444807159249	0.44105	0.576087375340809	0.57537	1.38039980579	0.84761	0.282630443573	0.07862	T	0.159719	0.50327	T	-0.461828	0.00958	T	-0.423837	0.30635	T	0.128369536934514	0.15230	T	0.717128	0.33447	T	0.7390174	0.80236	0.51835674	0.72172	0.7390174	0.80237	0.51835674	0.72172	-6.636	0.51327	T	.	.	0.345	0.59904	A	.;.;.;.;.	.;.;.;.;.	3.053305	0.40982	21.3	0.99640036919943697	0.76571	0.65527	0.32767	D	AEFBCIJ	0.165513	0.29202	N	0.500712381227294	0.67131	5.041073	0.427046149151113	0.63254	4.555783	0.999996722917702	0.74766	0.643511	0.44296	0	0.685571	0.66316	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.66	4.63	0.57175	1.438000	0.34612	2.392000	0.32546	0.533000	0.24879	0.958000	0.33488	0.987000	0.30940	0.150000	0.20306	0.0:0.9064:0.0:0.0936	9.537	0.38396	758	0.50837	Intercellular adhesion molecule, N-terminal|Immunoglobulin subtype;Intercellular adhesion molecule, N-terminal;Intercellular adhesion molecule, N-terminal;Intercellular adhesion molecule, N-terminal;Intercellular adhesion molecule, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.005051	0.001359	0.005848	0.000000	0.000000	0.000000	0.007576	0.07143	1553.44	37	chr19	10338789	.	C	A	1553.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.095;DP=346;ExcessHet=0;FS=2.14;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=0.039;SOR=0.898	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	6	0	1	0
chr19	10339560	10339560	C	T	exonic	ICAM3	.	nonsynonymous SNV	ICAM3:NM_001320605:exon1:c.G55A:p.V19I,ICAM3:NM_002162:exon1:c.G55A:p.V19I	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	7.7e-05	0.00239617	0.0022	0.0002	0.0002	0	0	9.094e-05	0.0045	0.0151	0.0018628	288	154602	rs148348101	0.0009	0.0009	0.0005	0.0014	0.0151	0.0009	0.0009	0.0144	0.0141	0	0	0	2.519e-05	0	0.0009	2.878e-05	0.0005	0.0151	0.0005	0.0005	0.0003	0.0007	0.0137	0.0004	0.0004	0.0110	0.0101	7.213e-05	0	0	0	0	0	0	5.88e-05	0	0.0137	0.331	0.13088	T	1.0	0.01155	T	0.012	0.16265	B	0.004	0.10090	B	0.042213	0.01902	N	2.631980	1	0.19599	N	1.36	0.34107	L	4.3	0.02437	T	-0.11	0.08653	N	0.032	0.00825	-0.9412	0.42426	T	0.008	0.02760	T	10	0.005120039	0.00111	T	.	.	.	0.032	0.07718	.	.	0.143124449307	0.13826	0.19154345286049587	0.19072	0.328158930332	0.34936	0.285743236542	0.08305	T	0.065251	0.32640	T	-0.72936	0.00024	T	-0.808127	0.01707	T	0.00756535430341179	0.00088	T	0.419458	0.11115	T	0.027059333	0.01845	0.022996616	0.00316	0.027059333	0.01845	0.022996616	0.00316	-4.357	0.28968	T	.	.	0.091	0.12891	B	.	.	-0.439759	0.02069	0.190	0.8623663793516213	0.16402	0.02677	0.07305	N	ALL	0.038696	0.05515	N	-1.32508684775682	0.03390	0.1513651	-1.39815435686502	0.03272	0.1522784	0.999999999993461	0.74766	0.741868	0.97996	0	0.52208	0.09955	0	0.774882	0.98623	0	0.631631	0.49550	0	.	.	4.4	-6.04	0.01995	-0.394000	0.07357	-2.522000	0.03652	-0.192000	0.09343	0.000000	0.06391	0.000000	0.08366	0.390000	0.26558	0.1201:0.2106:0.59:0.0793	7.966	0.29259	758	0.50837	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.011364	0.07143	1362.83	32	chr19	10339560	.	C	T	1362.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.325;DP=256;ExcessHet=0;FS=4.591;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.83;ReadPosRankSum=-1.356;SOR=0.308	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1224	6	0	1	0
chr19	10631490	10631490	C	T	exonic	SLC44A2	.	nonsynonymous SNV	SLC44A2:NM_001145056:exon7:c.C451T:p.L151F,SLC44A2:NM_001363611:exon7:c.C457T:p.L153F,SLC44A2:NM_020428:exon7:c.C457T:p.L153F	.	420	1086	14	2	0	18	0.00821918	.	.	.	2811565	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.134	.	0.0046	0.00119808	0.0043	0.0012	0.0027	0	0.0011	0.0066	0.0044	0.0018	0.004269	660	154602	rs147820753	0.0053	0.0053	0.0054	0.0052	0.0061	0.0052	0.0051	0.0060	0.0059	0.0012	0.0038	0.0060	2.519e-05	0.0015	0.0049	0.0061	0.0049	0.0017	0.0042	0.0042	0.0047	0.0037	0.0070	0.0039	0.0038	0.0065	0.0063	0.0011	0	0.0045	0.0063	0	0.0007	0.0034	0.0070	0.0043	0.0008	0.008	0.65419	D	0.072	0.51737	T	0.149	0.27956	B	0.26	0.39460	B	0.000731	0.42129	D	0.207551	0.999687	0.48270	D	3.355	0.91145	M	1.92	0.23082	T	-2.45	0.53577	N	0.284	0.32148	-1.0997	0.04128	T	0.043	0.18701	T	10	0.0039951503	0.00077	T	.	.	.	0.134	0.36365	.	.	0.467247493403	0.46351	0.8331735572011452	0.83276	0.460764587813	0.45631	0.57872068882	0.49906	T	0.110705	0.59963	T	-0.414945	0.01844	T	-0.362277	0.37787	T	0.0778227691841469	0.09706	T	0.710029	0.40874	T	0.17049186	0.37626	0.18059826	0.40869	0.17049186	0.37626	0.18059826	0.40868	-8.331	0.63304	D	.	.	0.459	0.65444	A	.;.;.;.;.	.;.;.;.;.	3.717994	0.53115	23.3	0.99811418551868991	0.89531	0.96237	0.68167	D	AEFDGBI	0.580958	0.58116	D	0.096398637139644	0.46294	2.872031	0.121495831935482	0.45650	2.824449	0.999994654175628	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.87	4.87	0.62877	3.429000	0.52567	3.287000	0.37275	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.0:0.9113:0.0:0.0887	11.149	0.47669	814	0.42100	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.025253	0.010870	0.000000	0.000000	0.008621	0.009146	0.000000	0.07143	95.44	46	chr19	10631490	.	C	T	95.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.15;DP=433;ExcessHet=0;FS=3.979;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=0.189;SOR=2.8	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:118,0:118:99:.:.:0,120,1800:.	6	0	1	0
chr19	10777171	10777171	G	A	exonic	DNM2	.	nonsynonymous SNV	DNM2:NM_001005360:exon5:c.G643A:p.D215N,DNM2:NM_001005361:exon5:c.G643A:p.D215N,DNM2:NM_001005362:exon5:c.G643A:p.D215N,DNM2:NM_001190716:exon5:c.G643A:p.D215N,DNM2:NM_004945:exon5:c.G643A:p.D215N	Charcot-Marie-Tooth disease, axonal, type 2M, Autosomal dominant;Charcot-Marie-Tooth disease, dominant intermediate B, Autosomal dominant;Lethal congenital contracture syndrome 5, Autosomal recessive;Myopathy, centronuclear, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	403369	not_specified|not_provided|Charcot-Marie-Tooth_disease_dominant_intermediate_B|Centronuclear_myopathy|DNM2-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011674,MedGen:C1847902,OMIM:606482,Orphanet:100044,Orphanet:228179|MONDO:MONDO:0018947,MedGen:C0175709,OMIM:PS160150,Orphanet:595|.	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.479	.	0.0005	0.000399361	0.0015	0.0002	0	0	0.0124	0.0014	0.0044	0.0003	0.0011902	184	154602	rs145478270	0.0008	0.0008	0.0008	0.0008	0.0017	0.0007	0.0007	0.0009	0.0007	0	4.472e-05	3.826e-05	2.519e-05	0.0111	0.0017	0.0004	0.0008	0.0003	0.0016	0.0016	0.0009	0.0023	0.0012	0.0014	0.0014	0.0010	0.0009	2.405e-05	0	0.0001	0.0003	0	0.0145	0	0.0012	0.0009	0.0004	0.266	0.17468	T	0.275	0.23298	T	0.512	0.52277	P	0.202	0.37792	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.775	0.45938	L	-3.77	0.95595	D	-4.06	0.75615	D	0.635	0.75009	0.740	0.93668	D	0.871	0.95708	D	10	0.015476167	0.00325	T	.	.	.	0.479	0.77012	.	.	0.958122475646	0.95767	0.8463143602722402	0.84592	1.83200647507	0.92061	0.790451407433	0.80511	T	0.887329	0.97683	D	-0.279761	0.10692	T	-0.178312	0.56679	T	0.0527902569308916	0.05984	T	0.970703	0.89491	D	0.3195596	0.54603	0.39887252	0.64465	0.32804826	0.55311	0.31113848	0.57121	-10.374	0.76276	D	0.6136251852475612	0.68142	0.257	0.54027	B	.;.;.;.;.	.;.;.;.;.	5.832741	0.93745	33	0.9963720733925111	0.76449	0.99177	0.92364	D	AEFDBIJ	0.918516	0.88768	D	0.224945867780208	0.52410	3.415373	0.211529410609703	0.50486	3.240157	0.999999991716198	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.94	3.9	0.44240	9.889000	0.98569	11.615000	0.93574	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0853:0.0:0.9147:0.0	12.044	0.52763	428	0.80967	.;.;.;Dynamin-type guanine nucleotide-binding (G) domain|Dynamin, GTPase domain|Dynamin, GTPase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001512	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	1201.53	93	chr19	10777171	.	G	A	1201.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.84;DP=272;ExcessHet=0;FS=0.774;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.462;SOR=0.809	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1370	6	0	1	0
chr19	10798534	10798534	A	G	exonic	DNM2	.	nonsynonymous SNV	DNM2:NM_001005360:exon11:c.A1384G:p.T462A,DNM2:NM_001005361:exon11:c.A1384G:p.T462A,DNM2:NM_001005362:exon11:c.A1384G:p.T462A,DNM2:NM_001190716:exon11:c.A1384G:p.T462A,DNM2:NM_004945:exon11:c.A1384G:p.T462A	Charcot-Marie-Tooth disease, axonal, type 2M, Autosomal dominant;Charcot-Marie-Tooth disease, dominant intermediate B, Autosomal dominant;Lethal congenital contracture syndrome 5, Autosomal recessive;Myopathy, centronuclear, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	332403	not_specified|Inborn_genetic_diseases|not_provided|Autosomal_dominant_centronuclear_myopathy|Charcot-Marie-Tooth_disease_dominant_intermediate_B	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0008048,MeSH:D020914,MedGen:C4551952,OMIM:160150,Orphanet:169189|MONDO:MONDO:0011674,MedGen:C1847902,OMIM:606482,Orphanet:100044,Orphanet:228179	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.332	0.0278324785597	.	.	0.0002	0	0.0002	0	0	0.0003	0.0011	0.0003	0.0001811	28	154602	rs201575500	0.0001	0.0001	0.0001	0.0002	0.0007	0.0001	0.0001	0.0003	0.0002	2.987e-05	0.0002	0	0	1.872e-05	0.0007	0.0001	0.0002	0.0004	0.0002	0.0002	0.0001	0.0002	0.0015	0.0001	8.731e-05	0.0007	0.0005	4.828e-05	0	0.0001	0	0	0	0	0.0001	0.0014	0.0015	0.091	0.31834	T	0.511	0.45744	T	0.088	0.29746	B	0.053	0.30479	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.905	0.50856	L	-0.67	0.72458	T	-3.21	0.65171	D	0.684	0.71854	-0.4678	0.69802	T	0.326	0.69436	T	10	0.220121	0.38700	T	0.027832	0.50591	D	0.332	0.65424	.	.	0.720179766801	0.71771	0.7513524050960209	0.75082	1.05575638004	0.76310	0.7073315382	0.68206	T	0.864422	0.97018	D	-0.187171	0.22674	T	-0.163904	0.57999	T	0.0835379511117935	0.10434	T	0.80242	0.45852	T	0.32516393	0.55072	0.3169438	0.57672	0.32516393	0.55072	0.3169438	0.57671	-5.435	0.41312	T	0.252206737828765	0.34123	0.105	0.26388	B	.;.;.;.;.;.	.;.;.;.;.;.	4.256948	0.64661	24.7	0.99186156143668269	0.54848	0.98715	0.85931	D	AEFDBI	0.704794	0.66040	D	0.153020506166584	0.48955	3.101461	0.230976828269892	0.51573	3.338789	0.999998370353162	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.57	4.57	0.55860	4.957000	0.63358	7.773000	0.68509	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	1.0:0.0:0.0:0.0	12.934	0.57701	415	0.81806	.;.;.;Dynamin central domain;.;Dynamin central domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	612.49	33	chr19	10798534	.	A	G	612.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.658;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.12;ReadPosRankSum=0.545;SOR=0.689	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1076	6	0	1	0
chr19	10924001	10924001	T	G	splicing	YIPF2	NM_001321440:exon6:c.368-2A>C;NM_024029:exon7:c.485-2A>C;NM_001321439:exon7:c.485-2A>C	.	.	.	410	1092	14	0	6	20	0.00636943	1.0000	0.94	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.683e-06	0	0	0	0	1.742e-05	0	0	3.84e-05	1	26028	rs773085387	1.584e-05	1.574e-05	1.507e-05	1.662e-05	3.008e-05	1.055e-05	8.81e-06	1.22e-05	1.035e-05	3.008e-05	0	0	0	0	0	1.898e-05	1.669e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248212	0.78434	D	0.215617	0.83954	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.962011	0.94195	33	0.99542106868602143	0.70586	0.99562	0.97468	D	AEFDBHCI	.	.	.	1.08663251972857	0.97879	16.94849	0.931893125280723	0.96818	15.18811	0.999999993294081	0.74766	0.160901	0.03495	0	0.158463	0.03841	0	0.17184	0.04098	0	0.087121	0.02386	0	0.960166	0.65381	5.47	5.47	0.80345	6.083000	0.70975	6.121000	0.53786	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.890000	0.42831	0.0:0.0:0.0:1.0	14.521	0.67436	511	0.75131	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	918.44	35	chr19	10924001	.	T	G	918.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.866;DP=303;ExcessHet=0;FS=0.759;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=0.519;SOR=0.606	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	6	0	1	0
chr19	11253671	11253671	G	C	exonic	DOCK6	.	nonsynonymous SNV	DOCK6:NM_001367830:exon2:c.C100G:p.H34D,DOCK6:NM_020812:exon2:c.C100G:p.H34D	Adams-Oliver syndrome 2, Autosomal recessive	1	1515	4	2	0	8	0.00263331	.	.	.	1018492	Adams-Oliver_syndrome_2|DOCK6-related_disorder|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0013635,MedGen:C3280182,OMIM:614219,Orphanet:974|.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.158	0.0112285885313	.	0.000399361	0.0012	0	0.0020	0	0.0085	0.0019	0	0.0007	0.000304	47	154602	rs201065561	0.0006	0.0006	0.0006	0.0006	0.0041	0.0006	0.0005	0.0028	0.0024	3.921e-05	0.0004	0	0.0001	4.127e-05	0.0041	0.0006	0.0006	0.0006	0.0005	0.0005	0.0004	0.0005	0.0008	0.0004	0.0003	0.0005	0.0004	0.0002	0	0.0007	0	0	9.413e-05	0.0034	0.0006	0.0019	0.0008	0.532	0.06980	T	0.852	0.03487	T	0.005	0.12996	B	0.017	0.18140	B	0.509811	0.05140	N	1.265160	0.998934	0.21783	N	0.345	0.11182	N	2.8	0.11082	T	-2.48	0.54059	N	0.399	0.43995	-0.9853	0.33760	T	0.019	0.07939	T	10	0.0073676705	0.00167	T	0.011229	0.28641	T	0.158	0.41098	.	.	0.117506650769	0.11410	0.2994114149702106	0.29854	0.258910486306	0.28441	0.449441879988	0.31868	T	0.010838	0.09742	T	-0.517095	0.00457	T	-0.580302	0.14518	T	0.0207867502896141	0.00778	T	0.686731	0.29555	T	0.09561676	0.22507	0.12545796	0.30228	0.09561676	0.22507	0.12545796	0.30227	-1.926	0.02914	T	.	.	0.143	0.31406	B	.	.	1.999469	0.25404	16.75	0.67361397882174723	0.08332	0.93128	0.57400	D	AEFDBI	0.464187	0.51279	N	-1.03093054681705	0.07966	0.371931	-0.927020957407919	0.11457	0.5838098	0.999753778619024	0.42595	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.591603	0.36755	0	.	.	5.32	1.86	0.24489	4.752000	0.61873	.	.	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.097000	0.18139	0.0:0.0:0.6452:0.3548	15.478	0.75232	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001540	0.000000	0.000000	0.002959	0.000000	0.008772	0.003185	0.000000	0.07143	443.44	39	chr19	11253671	.	G	C	443.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.952;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.45;SOR=0.602	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1091	6	0	1	0
chr19	11441313	11441313	A	C	exonic	PRKCSH	.	nonsynonymous SNV	PRKCSH:NM_001289102:exon5:c.A424C:p.K142Q,PRKCSH:NM_001001329:exon6:c.A424C:p.K142Q,PRKCSH:NM_001289103:exon6:c.A424C:p.K142Q,PRKCSH:NM_001289104:exon6:c.A424C:p.K142Q,PRKCSH:NM_001379608:exon6:c.A424C:p.K142Q,PRKCSH:NM_001379609:exon6:c.A424C:p.K142Q,PRKCSH:NM_002743:exon6:c.A424C:p.K142Q	Polycystic liver disease 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0200524585778	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1422414995	2.736e-06	2.736e-06	1.361e-06	4.125e-06	4.637e-05	6.4e-07	4.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	0	0	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.23433	T	0.012	0.16265	B	0.044	0.24394	B	0.000001	0.62929	D	0.056626	0.98235	0.39882	D	-0.525	0.02545	N	-0.6	0.71662	T	.	.	.	0.292	0.33250	-0.9405	0.42536	T	0.139	0.45715	T	10	0.14685908	0.27837	T	0.020052	0.42561	T	.	.	0.409	0.44395	0.663690798227	0.66086	0.36887946717554126	0.36801	.	.	0.470313608646	0.34723	T	0.004136	0.17750	T	-0.211908	0.19111	T	-0.445314	0.28215	T	0.881199717521667	0.53124	D	0.875312	0.58632	D	0.12193351	0.28664	0.061110627	0.11748	0.12193351	0.28663	0.061110627	0.11748	-6.16	0.48357	T	.	.	0.074	0.14888	B	.;.;.;.;.;.	.;.;.;.;.;.	2.649094	0.34483	19.64	0.88735340317319145	0.18213	0.72675	0.35564	D	AEFDGBI	0.482240	0.52319	N	-0.317938009348629	0.28467	1.570367	-0.0765426407191813	0.36363	2.115193	0.999857120244829	0.44174	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	5.13	0.69729	4.018000	0.56886	.	.	0.740000	0.86194	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.8169:0.183:0.0:0.0	9.195	0.36385	824	0.40336	.;Glucosidase II beta subunit, N-terminal;Glucosidase II beta subunit, N-terminal;Glucosidase II beta subunit, N-terminal;.;Glucosidase II beta subunit, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	856.45	35	chr19	11441313	.	A	C	856.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.317;DP=263;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-1.436;SOR=0.651	GT:AD:DP:GQ:PL	0/1:45,38:83:99:867,0,1112	6	0	1	0
chr19	11449092	11449092	A	G	exonic	PRKCSH	.	nonsynonymous SNV	PRKCSH:NM_001289102:exon15:c.A1348G:p.I450V,PRKCSH:NM_001001329:exon16:c.A1348G:p.I450V,PRKCSH:NM_001289103:exon16:c.A1378G:p.I460V,PRKCSH:NM_001289104:exon16:c.A1378G:p.I460V,PRKCSH:NM_001379608:exon16:c.A1357G:p.I453V,PRKCSH:NM_001379609:exon16:c.A1348G:p.I450V,PRKCSH:NM_002743:exon16:c.A1357G:p.I453V	Polycystic liver disease 1, Autosomal dominant	1	1494	27	0	0	27	0.00895522	.	.	.	256765	not_provided|Polycystic_liver_disease_1|not_specified	MedGen:C3661900|MONDO:MONDO:0008265,MedGen:C0887850,OMIM:174050,Orphanet:2924|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.254	.	0.0053	0.00778754	0.0064	0.0011	0.0013	0.0073	0.0076	0.0065	0.0089	0.0119	0.006507	1006	154602	rs34351170	0.0076	0.0076	0.0073	0.0078	0.0129	0.0074	0.0074	0.0123	0.0121	0.0015	0.0015	0	0.0041	0.0054	0.0055	0.0081	0.0062	0.0129	0.0056	0.0056	0.0054	0.0057	0.0131	0.0052	0.0051	0.0105	0.0095	0.0011	0.0429	0.0025	0.0003	0.0079	0.0075	0	0.0077	0.0047	0.0131	.	.	.	0.531	0.10069	T	0.0	0.02946	B	0.001	0.04355	B	0.000324	0.45700	N	0.184815	0.999975	0.18612	N	-0.09	0.04745	N	-1.58	0.81987	D	.	.	.	0.156	0.16586	-0.8873	0.49163	T	0.203	0.55989	T	10	0.00853613	0.00193	T	.	.	.	.	.	.	.	0.283371740733	0.27958	0.5065078328404634	0.50572	.	.	0.487233489752	0.37056	T	0.153286	0.49406	T	-0.438522	0.01319	T	-0.392295	0.34284	T	0.00371138167468832	0.00039	T	0.0234976	0.00160	T	0.02781773	0.02027	0.029812073	0.01362	0.020555975	0.00618	0.027795853	0.00961	0.035	0.00366	T	.	.	0.058	0.00681	B	.;.;.;.	.;.;.;.	3.529203	0.49512	22.8	0.69236727640905305	0.08908	0.06733	0.12755	N	AEFDBCI	0.113277	0.22357	N	-0.657476909115767	0.17243	0.8856164	-0.497044359268979	0.22236	1.206725	0.629698680527482	0.21957	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.89	4.89	0.63387	2.699000	0.46744	.	.	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.212000	0.22240	0.1729:0.0:0.8271:0.0	9.535	0.38383	788	0.46569	.;Glucosidase 2 subunit beta-like;.;Glucosidase 2 subunit beta-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006042	0.000000	0.001359	0.002924	0.000000	0.025862	0.009146	0.011364	0.1429	2561.42	34	chr19	11449092	.	A	G	2561.42	.	AC=2;AF=0.143;AN=14;DP=261;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=31.24;SOR=1.151	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1432	6	1	0	0
chr19	11576806	11576806	C	T	exonic	ACP5	.	nonsynonymous SNV	ACP5:NM_001611:exon3:c.G299A:p.R100H,ACP5:NM_001111034:exon4:c.G299A:p.R100H,ACP5:NM_001111036:exon4:c.G299A:p.R100H,ACP5:NM_001322023:exon4:c.G299A:p.R100H,ACP5:NM_001111035:exon5:c.G299A:p.R100H	Spondyloenchondrodysplasia with immune dysregulation, Autosomal recessive	0	1497	24	1	0	26	0.00860927	.	.	.	584837	ACP5-related_disorder|Spondyloenchondrodysplasia_with_immune_dysregulation|not_specified|not_provided	.|MONDO:MONDO:0011939,MedGen:C1842763,OMIM:607944,Orphanet:1855|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.116	0.0241448777109	0.0012	0.00139776	0.0010	0	0.0007	0.0002	0.0002	0.0013	0	0.0013	0.0009767	151	154602	rs141651325	0.0011	0.0011	0.0011	0.0012	0.0069	0.0011	0.0011	0.0052	0.0046	0.0008	0.0012	0.0029	0.0002	0.0001	0.0069	0.0012	0.0014	0.0009	0.0010	0.0010	0.0009	0.0011	0.0014	0.0009	0.0008	0.0012	0.0011	0.0003	0	0.0013	0.0026	0.0002	0	0.0034	0.0014	0.0038	0.0010	0.412	0.10083	T	0.328	0.18675	T	0.0	0.02946	B	0.0	0.01387	B	0.191034	0.16846	N	0.627316	1	0.08975	N	1.33	0.33268	L	-0.5	0.85003	T	-0.1	0.08495	N	0.134	0.13055	-1.0201	0.23682	T	0.160	0.49397	T	10	0.0076809824	0.00175	T	0.024145	0.47134	T	0.116	0.32463	.	.	0.706117591893	0.70356	0.6713435899814403	0.67072	0.371501420004	0.38645	0.321201384068	0.13603	T	0.303393	0.67574	T	-0.438964	0.01312	T	-0.422332	0.30808	T	0.00377318139497629	0.00040	T	0.935906	0.76011	D	0.09749835	0.22983	0.047042187	0.06690	0.07109338	0.15712	0.04889085	0.07357	-5.07	0.37590	T	0.20344009798441293	0.27087	0.098	0.19720	B	.;.;.;.;.;.	.;.;.;.;.;.	1.669543	0.21287	15.13	0.87931454518656094	0.17589	0.02452	0.06897	N	AEFDBI	0.188931	0.31620	N	-0.956446616032274	0.09548	0.4524053	-0.952801329626404	0.10858	0.5495997	0.00104865131375379	0.08159	0.732398	0.92422	0	0.743671	0.97443	0	0.786243	0.99158	0	0.613276	0.41899	0	.	.	4.87	2.34	0.28071	-0.747000	0.04929	.	.	0.599000	0.40250	0.000000	0.06391	0.592000	0.25676	0.896000	0.43308	0.1561:0.6484:0.0:0.1956	6.115	0.19342	846	0.36215	Calcineurin-like phosphoesterase domain, ApaH type;Calcineurin-like phosphoesterase domain, ApaH type;Calcineurin-like phosphoesterase domain, ApaH type;Calcineurin-like phosphoesterase domain, ApaH type;Calcineurin-like phosphoesterase domain, ApaH type;Calcineurin-like phosphoesterase domain, ApaH type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.010101	0.000000	0.008772	0.000000	0.000000	0.009146	0.003788	0.07143	1239.83	40	chr19	11576806	.	C	T	1239.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.14;DP=321;ExcessHet=0;FS=1.403;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=-0.013;SOR=0.846	GT:AD:DP:GQ:PL	0/1:85,55:140:99:1250,0,1997	6	0	1	0
chr19	11806099	11806099	A	G	exonic	ZNF491	.	nonsynonymous SNV	ZNF491:NM_152356:exon3:c.A146G:p.Y49C	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.000584744274917	0.0055	0.000599042	0.0035	0.0009	0.0016	0	0.0008	0.0057	0.0022	0.0005	0.0037774	584	154602	rs141870350	0.0063	0.0063	0.0065	0.0061	0.0077	0.0062	0.0061	0.0076	0.0075	0.0011	0.0024	0.0034	0	0.0010	0.0009	0.0077	0.0045	0.0003	0.0041	0.0041	0.0043	0.0039	0.0073	0.0038	0.0037	0.0068	0.0066	0.0015	0	0.0022	0.0040	0	0.0008	0.0136	0.0073	0.0028	0.0002	0.04	0.43393	D	0.103	0.43531	T	0.227	0.30477	B	0.024	0.20255	B	.	.	.	.	1	0.08975	N	1.255	0.31814	L	2.44	0.15145	T	-2.92	0.67477	D	0.034	0.00942	-0.9964	0.30919	T	0.014	0.05561	T	9	0.0074469745	0.00169	T	5.85E-4	0.00246	T	0.016	0.02506	.	.	0.0401082797425	0.02173	0.03103441703754587	0.03052	0.0239022768499	0.02427	0.261366128922	0.05055	T	0.044423	0.26811	T	-0.593999	0.00159	T	-0.618624	0.11294	T	0.00730887890083648	0.00084	T	0.00711929	0.00473	T	0.12150264	0.28569	0.13338014	0.31985	0.12150264	0.28569	0.13338014	0.31984	-3.02	0.10398	T	.	.	0.089	0.20352	B	.;.	.;.	1.642717	0.20964	14.99	0.96559248114933161	0.30254	0.00060	0.00440	N	AEFBCI	0.023335	0.01285	N	-1.08432639914225	0.06931	0.3205058	-1.18221697142114	0.06206	0.2980287	2.57460452315626E-5	0.03498	0.553676	0.25195	0	0.588066	0.40923	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	1.01	1.01	0.19044	-1.657000	0.02081	.	.	0.663000	0.56723	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	1.0:0.0:0.0:0.0	5.928	0.18363	934	0.15400	Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	865.49	34	chr19	11806099	.	A	G	865.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.46;DP=253;ExcessHet=0;FS=0.877;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.593;SOR=0.584	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,985	6	0	1	0
chr19	11831991	11831991	G	A	exonic	ZNF440	.	nonsynonymous SNV	ZNF440:NM_152357:exon4:c.G815A:p.R272H	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.000808918510534	0.0002	0.00139776	0.0006	0.0003	0.0003	0	0	0.0002	0	0.0034	0.0005886	91	154602	rs199832413	0.0003	0.0003	0.0003	0.0004	0.0027	0.0003	0.0003	0.0025	0.0023	0.0002	0.0002	0	0	5.617e-05	0.0005	0.0002	0.0004	0.0027	0.0003	0.0004	0.0003	0.0004	0.0040	0.0003	0.0002	0.0026	0.0022	0.0002	0	0.0002	0	0	9.425e-05	0	0.0003	0	0.0040	0.138	0.25873	T	0.198	0.27767	T	0.102	0.25827	B	0.031	0.21939	B	.	.	.	.	1	0.08975	N	1.655	0.42436	L	1.95	0.22474	T	-2.54	0.55025	D	0.121	0.11197	-0.9615	0.38897	T	0.030	0.13023	T	9	0.004054308	0.00079	T	8.09E-4	0.00649	T	0.008	0.00669	.	.	0.221734844693	0.21761	0.02193880025590989	0.02145	0.048095875707	0.05251	0.202302068472	0.00526	T	0.006844	0.06266	T	-0.638877	0.00085	T	-0.694782	0.06116	T	0.00880367855476009	0.00109	T	0.140186	0.01129	T	0.032722678	0.03351	0.042088132	0.04932	0.032722678	0.03351	0.042088132	0.04931	-5.352	0.40455	T	.	.	0.110	0.21163	B	.	.	0.683452	0.10520	7.232	0.54251399655805133	0.05100	0.00000	0.00017	N	AEFBCI	.	.	.	-1.31471063042264	0.03506	0.1567288	-1.4694902296257	0.02598	0.1197682	8.7166010352446E-4	0.07946	0.562547	0.31514	0	0.653731	0.59785	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	1.0	-1.93	0.07180	-2.182000	0.01341	.	.	0.244000	0.18284	0.000000	0.06391	0.000000	0.08366	0.562000	0.30459	0.3504:0.0:0.2282:0.4214	2.245	0.03783	934	0.15400	Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001060	0.000000	0.000000	0.008197	0.000000	0.000000	0.003067	0.000000	0.07143	3930.44	78	chr19	11831991	.	G	A	3930.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.75;DP=625;ExcessHet=0;FS=1.357;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-0.842;SOR=0.784	GT:AD:DP:GQ:PL	0/1:146,159:305:99:3941,0,3371	6	0	1	0
chr19	12076186	12076186	A	G	exonic	ZNF844	.	nonsynonymous SNV	ZNF844:NM_001136501:exon4:c.A1066G:p.K356E	.	419	1088	14	1	0	16	0.00729927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0042	0.00359425	0.0066	0.0029	0.0041	0	0.0014	0.0065	0.0023	0.0115	0.0032729	506	154602	rs61998199	0.0053	0.0053	0.0053	0.0054	0.0098	0.0052	0.0052	0.0093	0.0090	0.0008	0.0021	0.0013	0	0.0007	0.0021	0.0058	0.0047	0.0098	0.0034	0.0034	0.0035	0.0034	0.0064	0.0032	0.0031	0.0050	0.0048	0.0011	0	0.0041	0	0	0.0006	0.0068	0.0055	0.0028	0.0064	0.016	0.51853	D	0.026	0.55759	D	0.298	0.32505	B	0.144	0.33818	B	.	.	.	.	1	0.18612	N	1.29	0.32370	L	3.29	0.06445	T	-1.82	0.42763	N	0.066	0.03841	-0.9958	0.31082	T	0.012	0.04795	T	9	0.005078733	0.00110	T	.	.	.	0.018	0.03083	.	.	0.0297737177859	0.01360	0.019703609881135866	0.01923	0.0140823179326	0.01340	0.225910156965	0.01680	T	0.006	0.05051	T	-0.67362	0.00052	T	-0.733846	0.04155	T	0.00836196739726162	0.00101	T	0.0134986	0.00072	T	0.10117602	0.23896	0.08319262	0.19046	0.10117602	0.23896	0.08319262	0.19046	-6.089	0.47018	T	.	.	0.408	0.60019	A	.	.	1.141019	0.15283	11.73	0.99585638236336271	0.73277	0.00001	0.00044	N	AEDBCI	.	.	.	-0.669499871888202	0.16895	0.864769	-0.749832738805937	0.15726	0.8285321	0.00901801513552424	0.11781	0.562547	0.31514	0	0.653731	0.59785	0	0.575934	0.27490	0	0.714379	0.83352	0	.	.	2.5	2.5	0.29355	-1.680000	0.02040	.	.	0.497000	0.22564	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7554:0.2446:0.0:0.0	6.624	0.22014	934	0.15400	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.001362	0.002924	0.000000	0.000000	0.009146	0.000000	0.07143	1716.53	61	chr19	12076186	.	A	G	1716.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.704;DP=413;ExcessHet=0;FS=1.41;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=1.69;SOR=0.829	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1069	6	0	1	0
chr19	12319717	12319717	C	T	exonic	ZNF563	.	nonsynonymous SNV	ZNF563:NM_001363608:exon4:c.G308A:p.C103Y,ZNF563:NM_145276:exon4:c.G308A:p.C103Y	.	432	1070	20	0	0	20	0.00925926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	.	0.00259585	0.0010	0	8.637e-05	0	0	0.0003	0.0011	0.0065	0.000912	141	154602	rs200876279	0.0004	0.0004	0.0003	0.0006	0.0055	0.0004	0.0004	0.0051	0.0049	0	2.236e-05	0	0	3.744e-05	0.0033	9.802e-05	0.0006	0.0055	0.0004	0.0004	0.0003	0.0005	0.0068	0.0003	0.0003	0.0050	0.0044	2.407e-05	0	0	0	0.0002	0	0	0.0003	0	0.0068	1.0	0.00964	T	1.0	0.15506	T	0.009	0.15093	B	0.015	0.17295	B	.	.	.	.	0.999924	0.19486	N	-0.435	0.02851	N	2.87	0.10386	T	-5.48	0.85692	D	0.097	0.07811	-0.9364	0.43180	T	0.010	0.03537	T	9	0.006224215	0.00140	T	.	.	.	0.069	0.20116	.	.	0.0297737177859	0.01360	0.20285487040038153	0.20202	0.160696384442	0.18139	0.237996399403	0.02612	T	0.221563	0.58517	T	-0.639767	0.00084	T	-0.689976	0.06390	T	0.0152120328931474	0.00334	T	0.119588	0.08641	T	0.10350633	0.24465	0.27528387	0.53463	0.10350633	0.24465	0.27528387	0.53462	-4.444	0.30149	T	.	.	0.084	0.25850	B	.;.;.	.;.;.	0.277470	0.06548	3.031	0.25871228792176176	0.01213	0.00369	0.01880	N	AEFBCI	0.032383	0.03648	N	-1.39088578848653	0.02723	0.1206324	-1.42107454912294	0.03042	0.1411457	1.03060331616272E-5	0.01202	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.564101	0.26826	0	.	.	0.724	0.724	0.17389	-0.075000	0.11392	.	.	0.306000	0.19039	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:0.9999:0.0:1.0E-4	7.254	0.25339	923	0.18507	Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.1429	4312.24	137	chr19	12319717	.	C	T	4312.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.551;DP=513;ExcessHet=0.3476;FS=2.3;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=1.16;SOR=0.836	GT:AD:DP:GQ:PL	0/1:115,106:221:99:2466,0,2786	5	0	2	0
chr19	12430730	12430730	A	0	exonic	ZNF443	.	.	.	.	412	412	423	155	120	853	0.470777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	16760.0	112	chr19	12430730	.	A	*	16760.0	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.637;DP=772;ExcessHet=2.5225;FS=1.132;MLEAC=1;MLEAF=0.071;MQ=58.15;MQRankSum=-4.01;QD=22.08;ReadPosRankSum=0.606;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:93,0:172:99:0|1:12430718_C_A:2916,3196,7051:12430718	6	0	1	0
chr19	12464013	12464013	C	T	exonic	ZNF709	.	nonsynonymous SNV	ZNF709:NM_152601:exon4:c.G1909A:p.V637I	.	428	1082	12	0	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000967509020786	0.0009	0.00159744	0.0022	0.0003	0.0002	0	0.0005	0.0025	0.0025	0.0079	0.0019081	295	154602	rs148951852	0.0015	0.0016	0.0013	0.0018	0.0089	0.0015	0.0015	0.0083	0.0080	3.385e-05	0.0001	0.0002	0	0.0013	0.0048	0.0013	0.0015	0.0089	0.0013	0.0013	0.0011	0.0014	0.0078	0.0011	0.0011	0.0058	0.0051	9.723e-05	0	0.0001	0	0	0.0014	0	0.0019	0.0005	0.0078	0.493	0.07920	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.445	0.02820	N	3.07	0.08547	T	-0.27	0.11366	N	0.018	0.00252	-0.9765	0.35794	T	0.006	0.02206	T	9	0.0040544868	0.00079	T	9.68E-4	0.01003	T	0.013	0.01715	.	.	0.0846915920261	0.08053	0.0056723854926779	0.00537	0.273427622127	0.29844	0.326258182526	0.14368	T	0.023265	0.17791	T	-0.760131	0.00015	T	-0.858537	0.00859	T	0.000625639478516926	0.00006	T	0.0748925	0.00548	T	0.019713074	0.00507	0.067255996	0.13890	0.019713074	0.00507	0.067255996	0.13889	-0.116	0.00392	T	.	.	0.070	0.03407	B	.;.	.;.	-0.646390	0.01450	0.088	0.72995583462683189	0.10170	0.01503	0.04977	N	AEFDBCI	0.019548	0.00689	N	-2.09860675845974	0.00129	0.005526622	-2.13964118378213	0.00153	0.006710481	0.0055880345274098	0.10984	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	2.57	-5.15	0.02648	-0.764000	0.04841	.	.	-0.870000	0.02561	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.1176:0.4568:0.0:0.4256	7.232	0.25224	923	0.18507	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.001359	0.002924	0.000000	0.000000	0.009146	0.015152	0.07143	684.44	68	chr19	12464013	.	C	T	684.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.68;DP=275;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-0.414;SOR=0.766	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,100,1324	6	0	1	0
chr19	12688262	12688262	G	A	exonic	GNG14	.	nonsynonymous SNV	GNG14:NM_001316692:exon1:c.G214A:p.A72T	.	422	1094	5	1	0	7	0.00318907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00499201	0.0155	0.0047	0.0217	0	0	0	0	0.0218	0.0013001	201	154602	rs565201231	0.0031	0.0027	0.0015	0.0045	0.0261	0.0030	0.0029	0.0250	0.0246	6.326e-05	0.0003	0	3.115e-05	0	0.0007	7.571e-05	0.0013	0.0261	0.0009	0.0009	0.0005	0.0012	0.0259	0.0008	0.0007	0.0222	0.0208	0.0001	0	6.539e-05	0	0	0	0	2.941e-05	0	0.0259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0058311224	0.00130	T	.	.	.	.	.	.	.	.	.	0.018916223443627294	0.01845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.363764	0.08432	T	0.019201158	0.00447	0.07376117	0.16063	0.019201158	0.00447	0.07376117	0.16063	-3.999	0.23789	T	.	.	0.081	0.08417	B	.;.	.;.	0.068827	0.04776	1.394	0.77561919239879162	0.11927	0.04423	0.10016	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00858981922293318	0.11703	0.092769	0.02424	0	0.09434	0.02614	0	0.121787	0.03316	0	0.09929	0.02979	0	0.158406	0.27965	4.79	-6.56	0.01680	-0.660000	0.05416	.	.	-1.803000	0.00622	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.589:0.1297:0.2812:0.0	6.946	0.23695	721	0.55360	G-protein gamma-like domain;G-protein gamma-like domain|G-protein gamma-like domain|G-protein gamma-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1354.49	34	chr19	12688262	.	G	A	1354.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.586;DP=268;ExcessHet=0;FS=2.976;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=-0.118;SOR=0.417	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1226	6	0	1	0
chr19	12769900	12769900	A	C	exonic	HOOK2	.	nonsynonymous SNV	HOOK2:NM_001100176:exon11:c.T1085G:p.L362R,HOOK2:NM_013312:exon11:c.T1085G:p.L362R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524	0.0845558581854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.04	0.59732	D	1.0	0.90584	D	0.993	0.81110	D	0.000002	0.62929	D	0.000000	0.999866	0.50061	D	2.805	0.81760	M	1.84	0.24656	T	-5.61	0.86686	D	0.799	0.79503	-0.6786	0.61437	T	0.187	0.53661	T	10	0.8498167	0.84156	D	0.084556	0.74351	D	0.524	0.79825	0.523	0.62668	0.560416893347	0.55703	0.695273282460745	0.69468	1.08627709784	0.77293	0.891611874104	0.95459	D	0.151248	0.49110	T	0.143822	0.68686	D	-0.0311868	0.68289	D	0.998758554458618	0.95068	D	0.876112	0.60074	D	0.9242409	0.93663	0.86253273	0.92352	0.9242409	0.93664	0.86253273	0.92353	-12.623	0.87818	D	.	.	0.311	0.53868	B	.;.	.;.	4.153362	0.62320	24.4	0.99578321286165139	0.72861	0.95132	0.63555	D	ALL	0.933615	0.92576	D	0.687295168891456	0.78799	6.945072	0.594887635531887	0.74573	6.159906	1.0	0.98316	0.789315	0.99827	0	0.748881	0.99253	0	0.768056	0.98339	0	0.655142	0.61905	0	.	.	5.01	5.01	0.66477	6.666000	0.74289	.	.	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.049000	0.15107	1.0:0.0:0.0:0.0	13.686	0.61994	620	0.66037	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	312.63	20	chr19	12769900	.	A	C	312.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.418;DP=180;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=-0.59;SOR=0.765	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,884	6	0	1	0
chr19	12813107	12813107	A	G	exonic	RNASEH2A	.	nonsynonymous SNV	RNASEH2A:NM_006397:exon7:c.A662G:p.K221R	Aicardi-Goutieres syndrome 4, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	.	349395	not_specified|RNASEH2A-related_disorder|not_provided|Aicardi-Goutieres_syndrome_4	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0012472,MedGen:C1835912,OMIM:610333,Orphanet:51	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.249	0.0371749357378	0.0003	0.000599042	0.0007	0	8.717e-05	0	0	0.0005	0.0011	0.0031	0.0006468	100	154602	rs143534021	0.0006	0.0006	0.0006	0.0007	0.0043	0.0006	0.0006	0.0030	0.0026	0.0001	0.0003	0.0001	2.519e-05	1.872e-05	0.0043	0.0006	0.0009	0.0025	0.0005	0.0005	0.0004	0.0005	0.0023	0.0004	0.0004	0.0013	0.0010	7.217e-05	0	0.0012	0	0	0	0.0171	0.0005	0.0009	0.0023	0.699	0.04188	T	0.571	0.08777	T	0.001	0.07471	B	0.008	0.13708	B	0.199993	0.16625	N	0.624961	1	0.08975	N	-0.335	0.03518	N	-2.1	0.86146	D	-0.38	0.13418	N	0.121	0.11197	-0.7478	0.58050	T	0.230	0.59509	T	10	0.010812551	0.00239	T	0.037175	0.57455	D	0.249	0.55752	.	.	0.616786663822	0.61368	0.4208885468041519	0.42004	0.174257037238	0.19618	0.211936354637	0.00896	T	0.225732	0.59055	T	-0.489752	0.00652	T	-0.481198	0.24320	T	0.00723378188493352	0.00083	T	0.821518	0.48098	T	0.08367291	0.19332	0.03665446	0.03155	0.09017332	0.21090	0.039111383	0.03929	-3.829	0.21238	T	0.09518085125828546	0.06450	0.057	0.00553	B	.	.	1.489055	0.19158	14.12	0.36174652323220918	0.02312	0.27360	0.23255	N	AEFBHCI	0.049408	0.08533	N	-1.43201309504675	0.02362	0.104217	-1.35462403025632	0.03751	0.1756521	0.0376333249734361	0.14307	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.59	-4.84	0.02920	0.345000	0.19720	.	.	-0.069000	0.16386	0.940000	0.32642	1.000000	0.68203	0.726000	0.34967	0.3286:0.1983:0.3814:0.0917	2.536	0.04428	484	0.77165	Ribonuclease HII/HIII domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.005051	0.002717	0.002924	0.000000	0.008621	0.000000	0.000000	0.08333	297.27	25	chr19	12813107	.	A	G	297.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.09;DP=189;ExcessHet=0;FS=1.74;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=-0.035;SOR=0.627	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1204	5	0	1	1
chr19	12881105	12881105	G	C	exonic	DNASE2	.	nonsynonymous SNV	DNASE2:NM_001375:exon2:c.C134G:p.A45G	.	409	1105	8	0	0	8	0.00360685	.	.	.	1158405	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.017	0.0127536983497	0.0060	0.00199681	0.0050	0.0019	0.0037	0	0.0003	0.0073	0.0034	0.0028	0.0052393	810	154602	rs112348773	0.0076	0.0076	0.0077	0.0075	0.0116	0.0075	0.0074	0.0094	0.0087	0.0012	0.0052	0.0062	2.519e-05	0.0010	0.0116	0.0089	0.0073	0.0024	0.0051	0.0051	0.0057	0.0046	0.0087	0.0048	0.0047	0.0081	0.0079	0.0015	0	0.0046	0.0052	0.0002	0.0005	0.0102	0.0087	0.0062	0.0033	0.372	0.11478	T	0.521	0.10714	T	0.026	0.19406	B	0.063	0.27082	B	0.495557	0.05061	N	1.366640	1	0.08975	N	0.35	0.11930	N	2.51	0.17596	T	-0.9	0.24244	N	0.129	0.12341	-1.0013	0.29545	T	0.015	0.06282	T	10	0.0043547153	0.00088	T	0.012754	0.31594	T	0.017	0.02790	.	.	0.148003135375	0.14442	0.2683441953285732	0.26747	0.560273300196	0.52559	0.304706543684	0.11106	T	0.07564	0.35226	T	-0.654668	0.00068	T	-0.70213	0.05711	T	0.00470155657053513	0.00050	T	0.464953	0.13651	T	0.03689833	0.04628	0.036251202	0.03036	0.03689833	0.04628	0.036251202	0.03036	-3.775	0.20432	T	.	.	0.090	0.15070	B	.;.	.;.	0.762654	0.11325	7.945	0.61141236624801887	0.06635	0.08445	0.14373	N	AEFDGBCIJ	0.088819	0.18006	N	-1.22303293139151	0.04668	0.2111439	-1.28691288597175	0.04607	0.2176825	0.999982893370361	0.51787	0.627647	0.40530	0	0.52208	0.09955	0	0.52208	0.10781	0	0.657601	0.63696	0	.	.	5.12	-1.36	0.08610	-0.046000	0.11937	.	.	-1.707000	0.00749	0.000000	0.06391	0.004000	0.18990	0.001000	0.02609	0.2546:0.0:0.3464:0.3989	3.613	0.07612	587	0.69154	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.005051	0.012228	0.000000	0.000000	0.000000	0.012195	0.003788	0.1429	2632.02	35	chr19	12881105	.	G	C	2632.02	.	AC=2;AF=0.143;AN=14;DP=276;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=29.24;SOR=0.784	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1123	6	1	0	0
chr19	12896047	12896047	C	A	exonic	GCDH	.	nonsynonymous SNV	GCDH:NM_000159:exon7:c.C561A:p.D187E,GCDH:NM_013976:exon7:c.C561A:p.D187E	Glutaricaciduria, type I, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	2801291	Glutaric_aciduria,_type_1|GCDH-related_disorder	MONDO:MONDO:0009281,MedGen:C0268595,OMIM:231670,Orphanet:25|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.901	0.967618371041	7.7e-05	.	8.244e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs377580992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.574e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.005	0.72224	D	0.959	0.55135	D	0.725	0.55077	P	0.000000	0.84330	D	0.000000	0.999993	0.58761	D	2.785	0.81254	M	-6.13	0.99538	D	-3.73	0.70920	D	0.977	0.98750	1.115	0.99891	D	0.982	0.99456	D	10	0.9817916	0.98223	D	0.967618	0.99799	D	0.901	0.97248	0.905	0.97985	0.939118346112	0.93849	0.8877451233806193	0.88743	0.795785766	0.66036	0.556223392487	0.46734	T	0.96423	0.99560	D	0.497178	0.94199	D	0.476386	0.94123	D	0.988478362560272	0.78800	D	0.993601	0.97904	D	0.9622602	0.97506	0.8700122	0.92867	0.9622602	0.97507	0.8700122	0.92867	-12.719	0.88172	D	0.7459342344112345	0.82802	0.748	0.74960	P	.;.	.;.	3.145859	0.42563	21.6	0.98900276564011114	0.48181	0.88076	0.47848	D	AEFDGBI	0.678878	0.64310	D	-0.287852708054425	0.29616	1.643984	-0.406703426663186	0.24800	1.36011	0.216449918472935	0.18303	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.88	-1.31	0.08749	0.893000	0.27970	.	.	-0.875000	0.02511	1.000000	0.71638	0.925000	0.28409	0.889000	0.42754	0.0:0.574:0.0:0.426	10.800	0.45687	611	0.66908	Acyl-CoA oxidase/dehydrogenase, central domain|Acyl-CoA dehydrogenase, conserved site;Acyl-CoA oxidase/dehydrogenase, central domain|Acyl-CoA dehydrogenase, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	2016.63	34	chr19	12896047	.	C	A	2016.63	.	AC=2;AF=0.143;AN=14;DP=219;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=34.18;SOR=2.342	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1075	6	1	0	0
chr19	13099721	13099721	C	G	exonic	LYL1	.	nonsynonymous SNV	LYL1:NM_005583:exon4:c.G441C:p.Q147H	Leukemia, T-cell acute lymphoblastoid	9	1512	1	0	0	1	0.000330579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.118488381831	.	.	.	.	.	.	.	.	.	.	.	.	.	rs944101652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.039	0.51112	D	0.025	0.19245	B	0.01	0.14941	B	0.023637	0.26406	N	0.253070	0.536181	0.32016	D	2.34	0.67151	M	-4.54	0.97732	D	0.88	0.01664	N	0.112	0.09914	0.390	0.88942	D	0.790	0.92892	D	10	0.12653652	0.24056	T	0.118488	0.79854	D	0.210	0.50028	0.276	0.22845	0.545958439758	0.54250	0.7262853077962536	0.72572	1.23181786945	0.81364	0.647577702999	0.59642	T	0.15932	0.50271	T	0.0654076	0.60284	T	-0.143823	0.59785	T	0.520309746265411	0.33377	D	0.666633	0.27564	T	0.09867579	0.23278	0.086344466	0.19998	0.09867579	0.23278	0.086344466	0.19997	-10.03	0.74091	D	.	.	0.338	0.55760	B	.	.	3.320941	0.45673	22.2	0.98236443771004167	0.39440	0.66946	0.33256	D	ALL	0.607964	0.59772	D	-0.510063115723125	0.21754	1.156781	-0.4088295621469	0.24738	1.356349	0.999999999999999	0.74766	0.56387	0.32371	0	0.484254	0.07192	0	0.503968	0.08637	0	0.56214	0.19341	0	.	.	3.98	1.69	0.23290	0.363000	0.20037	0.802000	0.21668	0.529000	0.24592	0.990000	0.36992	0.999000	0.35428	0.997000	0.79791	0.0:0.7376:0.1655:0.0969	7.683	0.27690	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	204.64	22	chr19	13099721	.	C	G	204.64	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.887;DP=128;ExcessHet=0;FS=1.808;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=-0.392;SOR=1.162	GT:AD:DP:GQ:PL	0/0:33,0:33:72:0,72,1080	6	0	1	0
chr19	13814818	13814818	G	A	exonic	ZSWIM4	.	nonsynonymous SNV	ZSWIM4:NM_001367834:exon7:c.G1484A:p.R495Q	.	435	1083	4	0	0	4	0.00184332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0182393142756	.	.	0.0002	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs762405517	2.493e-05	1.984e-05	1.913e-05	3.102e-05	0.0005	1.729e-05	1.488e-05	0.0001	8.426e-05	0	0.0003	0	0	0	0.0005	5.496e-06	7.351e-05	0.0001	1.971e-05	1.969e-05	0	4.033e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0.0005	0	.	.	.	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.43	0.56772	T	.	.	.	.	.	-0.4942	0.68857	T	0.309	0.67931	T	8	0.42093706	0.56858	T	0.018239	0.40237	T	.	.	.	.	0.614442799871	0.61133	.	.	.	.	.	.	.	.	.	.	-0.24732	0.14429	T	-0.289906	0.45783	T	0.230555728077888	0.21977	T	0.976302	0.91743	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37407	B	.	.	4.405379	0.68111	25.2	0.99799694190902788	0.88461	0.95296	0.64171	D	AEFBI	0.645929	0.62164	D	0.413587648612046	0.62170	4.428467	0.323530069127235	0.56927	3.856782	0.490036189321926	0.20855	0.634777	0.41761	0	0.694456	0.67091	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.39	4.39	0.52211	6.317000	0.72825	11.464000	0.92836	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.021000	0.11733	0.0:0.0:1.0:0.0	14.807	0.69589	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	547.49	46	chr19	13814818	.	G	A	547.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.678;DP=223;ExcessHet=0;FS=1.178;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=0.055;SOR=0.471	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1093	6	0	1	0
chr19	14638243	14638243	C	T	exonic	ADGRE3	.	nonsynonymous SNV	ADGRE3:NM_001289159:exon8:c.G968A:p.R323Q,ADGRE3:NM_001289158:exon10:c.G1190A:p.R397Q,ADGRE3:NM_032571:exon11:c.G1346A:p.R449Q	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.011798563245	.	.	1.648e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs759479912	1.915e-05	1.915e-05	1.906e-05	1.925e-05	0.0002	1.328e-05	1.144e-05	1.377e-05	1.15e-05	5.974e-05	0	0	0	0	0.0002	2.068e-05	0	2.319e-05	2.63e-05	2.627e-05	5.142e-05	0	5.881e-05	8.15e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	0.002	0.72154	D	0.028	0.72224	D	1.0	0.90584	D	0.994	0.82059	D	.	.	.	.	0.99895	0.21827	N	.	.	.	1.18	0.37746	T	-3.66	0.70067	D	0.597	0.64563	-0.8275	0.53461	T	0.255	0.62485	T	9	0.76492727	0.76629	D	0.011799	0.29782	T	0.232	0.53354	0.711	0.84691	0.281381271821	0.27740	0.2917309096900242	0.29086	0.63183921919	0.57127	0.40144726634	0.25271	T	0.041559	0.25896	T	-0.0368981	0.46410	T	-0.193924	0.55220	T	0.919771313667297	0.57864	D	0.808619	0.48860	T	0.57365614	0.71260	0.514753	0.71962	0.57365614	0.71261	0.514753	0.71963	-8.977	0.67549	D	.	.	0.097	0.23605	B	.;.;.;.	.;.;.;.	4.196397	0.63292	24.6	0.99862119585977804	0.94093	0.37581	0.25794	N	AEFDBI	0.130496	0.24908	N	0.0625677473635354	0.44722	2.741147	-0.150812376352217	0.33378	1.908625	0.00240990634154497	0.09398	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.613276	0.41899	0	.	.	4.34	3.31	0.37025	0.527000	0.22695	.	.	-0.202000	0.08738	0.004000	0.16614	0.002000	0.18203	0.239000	0.22975	0.0:0.9:0.0:0.1	9.951	0.40808	952	0.10565	GPCR, family 2-like;.;GPCR, family 2-like;GPCR, family 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1023.44	113	chr19	14638243	.	C	T	1023.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.95;DP=289;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=-1.066;SOR=0.675	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1198	6	0	1	0
chr19	14828048	14828048	T	C	exonic	OR7A5	.	nonsynonymous SNV	OR7A5:NM_017506:exon2:c.A194G:p.N65S,OR7A5:NM_001370480:exon3:c.A194G:p.N65S,OR7A5:NM_001370482:exon3:c.A194G:p.N65S,OR7A5:NM_001370483:exon3:c.A194G:p.N65S,OR7A5:NM_001370481:exon4:c.A194G:p.N65S	.	431	1077	14	0	0	14	0.00645756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000733141331449	0.0015	0.000998403	0.0017	0.0005	0.0021	0	0	0.0022	0.0022	0.0017	0.0016041	248	154602	rs61731995	0.0015	0.0015	0.0014	0.0016	0.0075	0.0014	0.0014	0.0057	0.0051	0.0006	0.0021	0.0037	0	1.872e-05	0.0075	0.0015	0.0017	0.0017	0.0014	0.0014	0.0015	0.0012	0.0026	0.0012	0.0012	0.0019	0.0017	0.0004	0.0022	0.0026	0.0049	0	9.441e-05	0.0068	0.0018	0.0019	0.0012	0.007	0.59928	D	0.034	0.52727	D	0.916	0.50672	P	0.45	0.46092	P	0.004894	0.33292	U	0.000000	0.992036	0.23945	N	2.02	0.55341	M	2.65	0.12676	T	-4.45	0.77717	D	0.15	0.15328	-1.0534	0.13466	T	0.037	0.16160	T	10	0.0144023895	0.00303	T	7.33E-4	0.00491	T	0.046	0.12618	.	.	0.444305618086	0.44052	0.35010095407654707	0.34924	0.281692965744	0.30640	0.247111290693	0.03470	T	0.011591	0.10317	T	-0.586459	0.00176	T	-0.621351	0.11079	T	0.0597572850695916	0.07129	T	0.228877	0.03057	T	0.19568326	0.41367	0.17154738	0.39344	0.19568326	0.41366	0.17154738	0.39344	-7.992	0.61016	D	.	.	0.083	0.09143	B	.;.	.;.	2.252697	0.28777	17.91	0.99342962761448417	0.60251	0.18759	0.20391	N	AEFGBI	0.124316	0.24032	N	-0.148321768023192	0.35306	2.026265	-0.315740852893485	0.27590	1.532025	3.76610976278781E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.13	2.07	0.26004	-0.128000	0.10508	.	.	0.319000	0.19345	0.000000	0.06391	0.000000	0.08366	0.443000	0.27738	0.2045:0.0:0.0:0.7955	6.973	0.23838	976	0.04745	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.1429	1764.24	112	chr19	14828048	.	T	C	1764.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.11;DP=330;ExcessHet=0.3476;FS=6.711;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=0.642;SOR=1.035	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	5	0	2	0
chr19	15372978	15372978	G	A	exonic	AKAP8	.	nonsynonymous SNV	AKAP8:NM_005858:exon5:c.C734T:p.P245L	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.098938575206	.	.	3.337e-05	0	0	0	0	0	0.0017	0.0002	3.23e-05	5	154602	rs774386640	2.408e-05	3.283e-05	6.997e-06	4.159e-05	0.0003	1.733e-05	1.53e-05	0.0002	0.0002	0	2.616e-05	0	0	1.982e-05	0.0002	3.68e-06	0	0.0003	1.97e-05	1.969e-05	1.285e-05	2.685e-05	0.0004	5.24e-06	2.45e-06	7.29e-05	3.029e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	0.997	0.86255	D	0.000058	0.53742	D	0.000000	1	0.81001	D	2.255	0.64187	M	-0.11	0.64445	T	-1.97	0.45587	N	0.565	0.58883	-0.1520	0.78867	T	0.416	0.76292	T	10	0.52828854	0.63036	D	0.098939	0.77025	D	0.196	0.47777	0.229	0.15556	0.618175850084	0.61509	0.4913953343680154	0.49060	0.490765636778	0.47787	0.428801476955	0.29045	T	0.434456	0.78153	T	-0.213946	0.18827	T	-0.228939	0.51873	T	0.350140444676526	0.27024	T	0.838216	0.51127	T	0.23907952	0.46794	0.27562323	0.53500	0.23907952	0.46794	0.27562323	0.53499	-7.297	0.56174	T	.	.	0.117	0.23848	B	.	.	5.004690	0.83070	27.9	0.99855136497786934	0.93368	0.86912	0.46301	D	AEFDBCI	0.388636	0.46817	N	0.497309583088427	0.66931	5.014688	0.366046253725354	0.59480	4.126224	0.997171614148199	0.35344	0.631515	0.41029	0	0.697927	0.68747	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.71	4.71	0.59010	5.806000	0.68817	.	.	0.674000	0.70861	0.999000	0.42656	1.000000	0.68203	0.524000	0.29567	0.0:0.0:1.0:0.0	15.065	0.71654	656	0.62345	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001010	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.1429	2780.24	36	chr19	15372978	.	G	A	2780.24	.	AC=2;AF=0.143;AN=14;DP=287;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=29.27;SOR=0.896	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	6	1	0	0
chr19	15438635	15438635	C	T	exonic	WIZ	.	nonsynonymous SNV	WIZ:NM_001371589:exon4:c.G2359A:p.A787T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00465684237215	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1398904784	8.686e-06	8.893e-06	7.14e-06	1.028e-05	2.526e-05	4.63e-06	3.66e-06	4.19e-06	2.31e-06	0	0	0	0	0	0	7.428e-06	3.462e-05	2.526e-05	6.568e-06	6.566e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.000058	0.53742	D	0.000000	0.910026	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-1.0616	0.11361	T	0.030	0.12717	T	7	0.23106867	0.40073	T	0.004657	0.11566	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.927307	0.73215	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.468	0.63095	A	.	.	4.661665	0.74412	26.2	0.99926253017191058	0.99103	0.83047	0.42199	D	AEFBHCI	0.460671	0.51075	N	0.179978842298607	0.50238	3.215804	0.204591366603408	0.50100	3.205794	0.999744731038913	0.42466	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.97	4.97	0.65419	4.503000	0.60128	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:1.0:0.0:0.0	17.393	0.87328	653	0.62661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	30.43	.	chr19	15438635	.	C	T	30.43	.	AC=1;AF=0.125;AN=8;BaseQRankSum=0;DP=12;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=7.61;ReadPosRankSum=-1.383;SOR=0.693	GT:AD:DP:GQ:PL	0/0:5,0:5:15:0,15,127	3	0	1	3
chr19	15440497	15440497	T	C	exonic	WIZ	.	nonsynonymous SNV	WIZ:NM_001371589:exon4:c.A497G:p.H166R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00230748556829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.226e-07	6.84e-07	0	1.464e-06	2.801e-05	0	0	.	.	0	2.801e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253187	0.15466	N	0.542543	1	0.20516	N	.	.	.	.	.	.	.	.	.	.	.	-0.8955	0.48437	T	0.005	0.01725	T	7	0.09323636	0.16482	T	0.002307	0.04452	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333267	0.07048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.14062	B	.	.	1.525121	0.19577	14.33	0.83223256226601849	0.14608	0.05869	0.11816	N	AEFDBI	0.092726	0.18768	N	-0.579695181269596	0.19561	1.024797	-0.705011752864309	0.16836	0.8924919	1.23193011161588E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	5.23	-0.628	0.10958	0.812000	0.26869	.	.	0.665000	0.62972	0.039000	0.20931	1.000000	0.68203	0.551000	0.30197	0.0:0.3012:0.1527:0.5461	5.017	0.13683	653	0.62661	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	36.58	1	chr19	15440497	.	T	C	36.58	.	AC=2;AF=0.2;AN=10;DP=12;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;QD=18.29;SOR=0.693	GT:AD:DP:GQ:PL	0/0:4,0:4:12:0,12,92	4	1	0	2
chr19	15742072	15742072	T	C	exonic	OR10H3	.	nonsynonymous SNV	OR10H3:NM_013938:exon1:c.T680C:p.I227T	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00147771066605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.029	0.54541	D	0.055	0.22733	B	0.069	0.27757	B	0.020123	0.27106	U	0.170431	1	0.08975	N	3.53	0.93071	H	8.39	0.00243	T	-4.4	0.77308	D	0.142	0.14196	-0.9961	0.31001	T	0.001	0.00318	T	10	0.3855527	0.54512	T	0.001478	0.02267	T	0.090	0.26093	0.793	0.91438	0.405839309607	0.40195	0.07647593884922571	0.07583	0.076699842996	0.08613	0.27299785614	0.06535	T	0.009672	0.08788	T	-0.131347	0.31277	T	-0.426447	0.30340	T	0.357836257687421	0.27324	T	0.837416	0.50983	T	0.49829435	0.66995	0.48447543	0.70158	0.49829435	0.66996	0.48447543	0.70158	-7.973	0.60886	D	.	.	0.264	0.49807	B	.;.	.;.	2.764955	0.36273	20.2	0.96602957867436645	0.30412	0.12476	0.17292	N	AEFGBI	0.069116	0.13666	N	-0.484936188236524	0.22575	1.20632	-0.583697828145078	0.19918	1.070817	0.193588535053993	0.18030	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.37	2.37	0.28337	3.017000	0.49302	.	.	-0.308000	0.06107	0.089000	0.22556	0.009000	0.19889	0.819000	0.38590	0.0:0.0:0.0:1.0	8.241	0.30818	970	0.06235	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	172.44	41	chr19	15742072	.	T	C	172.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.264;DP=612;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.61;MQRankSum=1.05;QD=9.08;ReadPosRankSum=1.15;SOR=0.892	GT:AD:DP:GQ:PL	0/0:138,0:138:99:0,120,1800	6	0	1	0
chr19	15934313	15934313	-	GCCAGGA	exonic	CYP4F11	.	frameshift insertion	CYP4F11:NM_021187:exon1:c.95_96insTCCTGGC:p.R33Pfs*13,CYP4F11:NM_001128932:exon2:c.95_96insTCCTGGC:p.R33Pfs*13	.	404	1117	1	0	0	1	0.000447427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	0	2.751e-06	2.519e-05	2.3e-07	9e-08	.	.	0	0	0	2.519e-05	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	187.4	33	chr19	15934313	.	G	GGCCAGGA	187.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.712;DP=219;ExcessHet=0;FS=2.808;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.82;ReadPosRankSum=1.07;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,110,1420:.	6	0	1	0
chr19	16385169	16385169	T	C	exonic	EPS15L1	.	nonsynonymous SNV	EPS15L1:NM_001258374:exon21:c.A2207G:p.N736S,EPS15L1:NM_001258375:exon21:c.A2207G:p.N736S,EPS15L1:NM_021235:exon21:c.A2207G:p.N736S	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.00160816475039	.	0.000399361	0.0004	0	0	0.0001	0	0	0	0.0025	0.0002911	45	154602	rs543902952	0.0002	0.0002	8.304e-05	0.0003	0.0026	0.0002	0.0001	0.0023	0.0022	2.987e-05	0	0	0	0	0	1.529e-05	0.0001	0.0026	4.596e-05	4.593e-05	2.57e-05	6.713e-05	0.0012	2.108e-05	1.526e-05	0.0005	0.0004	0	0	0	0	0	0	0	1.47e-05	0	0.0012	1.0	0.00964	T	0.713	0.05844	T	0.0	0.02946	B	0.0	0.01387	B	0.003220	0.35270	N	0.320762	0.999999	0.08975	N	0	0.06538	N	2.22	0.26152	T	0.36	0.04776	N	0.098	0.17966	-0.9969	0.30783	T	0.013	0.05129	T	10	0.004414052	0.00090	T	0.001608	0.02600	T	0.111	0.31313	0.085	0.00830	0.259504319725	0.25562	0.11816267794620886	0.11743	0.0693580137507	0.07766	0.284633606672	0.08147	T	0.022939	0.17597	T	-0.717174	0.00029	T	-0.80725	0.01728	T	0.00686235944338551	0.00078	T	0.764224	0.41328	T	0.015146753	0.00124	0.032448545	0.01983	0.015146753	0.00124	0.032448545	0.01983	-2.289	0.11000	T	.	.	0.044	0.00117	B	.;.;.;.	.;.;.;.	-0.929929	0.00877	0.031	0.40331123559575172	0.02839	0.00579	0.02613	N	AEFBI	0.022344	0.01105	N	-1.84173763007349	0.00451	0.01939486	-1.82297358337625	0.00688	0.03064776	0.999999076348582	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.41	-10.8	0.00171	-1.624000	0.02141	-3.571000	0.02687	-1.086000	0.01550	0.000000	0.06391	0.000000	0.08366	0.973000	0.55318	0.0:0.8424:0.0781:0.0795	16.935	0.86070	976	0.04745	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1630.44	33	chr19	16385169	.	T	C	1630.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.88;DP=326;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-0.161;SOR=0.706	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1146	6	0	1	0
chr19	16509647	16509647	C	T	exonic	C19orf44	.	nonsynonymous SNV	C19orf44:NM_001288834:exon5:c.C1298T:p.S433L,C19orf44:NM_032207:exon5:c.C1298T:p.S433L	.	419	1098	5	0	0	5	0.00227169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.0184894771031	.	.	8.249e-06	9.636e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs768812832	1.437e-05	1.436e-05	1.089e-05	1.788e-05	0.0005	9.23e-06	7.84e-06	0.0001	7.541e-05	5.974e-05	2.236e-05	0	0	0	0.0005	1.169e-05	1.656e-05	1.159e-05	1.971e-05	1.97e-05	1.285e-05	2.689e-05	4.825e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.023	0.57104	D	0.998	0.73220	D	0.924	0.65913	D	0.422712	0.12849	N	0.670856	1	0.08975	N	0.975	0.24501	L	.	.	.	-3.84	0.72240	D	0.309	0.46835	-0.9690	0.37407	T	0.196	0.55085	T	9	0.22345921	0.39125	T	0.018489	0.40571	T	0.080	0.23350	0.351	0.34922	0.276065633971	0.27208	0.3403950325895662	0.33952	0.545111410704	0.51550	.	.	.	0.334785	0.70448	T	-0.220934	0.17867	T	-0.373605	0.36468	T	0.576971431619393	0.35502	D	0.811819	0.46320	T	0.15982991	0.35883	0.19315448	0.42868	0.15982991	0.35882	0.19315448	0.42867	-4.957	0.36370	T	.	.	0.168	0.41341	B	.;.	.;.	2.757374	0.36155	20.2	0.99788612640015772	0.87484	0.66159	0.32982	D	AEFDGBIJ	0.059431	0.11225	N	-0.000375428586881471	0.41838	2.509764	-0.204150536746213	0.31386	1.775806	0.958275871503958	0.28353	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.14	1.79	0.23992	1.527000	0.35581	0.308000	0.17052	0.596000	0.33519	0.876000	0.30908	0.018000	0.20648	0.025000	0.12405	0.0:0.7336:0.1686:0.0978	7.350	0.25857	799	0.44747	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	938.44	86	chr19	16509647	.	C	T	938.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.74;DP=280;ExcessHet=0;FS=2.887;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=0.711;SOR=0.521	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1058	6	0	1	0
chr19	16744600	16744600	-	G	exonic	NWD1	.	frameshift insertion	NWD1:NM_001007525:exon5:c.379dupG:p.E128Gfs*4	.	416	1095	10	1	0	12	0.00544959	.	.	.	2811782	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0047	0	0.0108	0.0051	0	0.0003	0.0145	0.0069	0.0004463	69	154602	rs535227776	0.0009	0.0008	0.0006	0.0011	0.0074	0.0008	0.0008	0.0069	0.0067	6.332e-05	0.0006	0	0	0	0.0033	0.0005	0.0008	0.0074	0.0006	0.0006	0.0005	0.0008	0.0089	0.0005	0.0005	0.0068	0.0061	4.813e-05	0	0.0004	0	0	0	0	0.0006	0.0014	0.0089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004494	0.000000	0.000000	0.004386	0.000000	0.000000	0.005747	0.011111	0.07143	1520.41	38	chr19	16744600	.	T	TG	1520.41	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.536;DP=311;ExcessHet=0;FS=4.089;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.84;ReadPosRankSum=0.372;SOR=1.215	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	6	0	1	0
chr19	16750330	16750330	C	T	exonic	NWD1	.	nonsynonymous SNV	NWD1:NM_001347994:exon5:c.C1070T:p.T357M,NWD1:NM_001007525:exon6:c.C1688T:p.T563M,NWD1:NM_001290355:exon7:c.C1283T:p.T428M	.	435	1050	35	2	0	39	0.0182328	.	.	.	2811785	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.029	.	0.0052	0.00319489	0.0069	0.0009	0.0018	0	0.0024	0.0092	0.0059	0.0102	0.0065135	1007	154602	rs141300843	0.0064	0.0064	0.0062	0.0065	0.0188	0.0062	0.0062	0.0159	0.0148	0.0017	0.0028	0.0183	5.038e-05	0.0021	0.0188	0.0066	0.0065	0.0084	0.0044	0.0044	0.0046	0.0043	0.0077	0.0042	0.0040	0.0065	0.0063	0.0008	0	0.0018	0.0153	0	0.0024	0.0170	0.0070	0.0071	0.0077	0.158	0.23905	T	0.526	0.10245	T	0.082	0.24665	B	0.014	0.16862	B	0.241064	0.15710	N	0.640286	1	0.08975	N	-0.485	0.02676	N	0.47	0.56114	T	0.43	0.03297	N	0.066	0.06990	-1.0755	0.08246	T	0.037	0.15770	T	10	0.0032134652	0.00055	T	.	.	.	0.029	0.06676	.	.	0.0611884634855	0.05136	0.23055863881366614	0.22970	0.152614297505	0.17216	0.302149355412	0.10722	T	5.85E-4	0.00238	T	-0.551344	0.00286	T	-0.557921	0.16572	T	0.00625591657394117	0.00069	T	0.715328	0.32778	T	0.018980328	0.00422	0.03925748	0.03978	0.018980328	0.00422	0.03925748	0.03978	-2.588	0.07153	T	.	.	0.074	0.07745	B	.;.;.;.	.;.;.;.	0.796979	0.11677	8.258	0.07088336291344946	0.00035	0.00419	0.02071	N	AEFBI	0.024551	0.01538	N	-0.965319545037062	0.09351	0.4422479	-0.917865094440947	0.11672	0.5961045	2.7198815757485E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.04	2.48	0.29194	2.174000	0.42109	1.637000	0.27771	0.589000	0.31548	0.210000	0.24424	0.011000	0.20116	0.075000	0.16954	0.0:0.4509:0.0:0.549	4.816	0.12731	906	0.23090	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.025732	0.005051	0.031250	0.026471	0.000000	0.043103	0.012195	0.026515	0.08333	261.27	26	chr19	16750330	.	C	T	261.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.29;DP=180;ExcessHet=0;FS=1.713;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.803;SOR=0.355	GT:AD:DP:GQ:PL	0/0:30,0:30:72:0,72,1080	5	0	1	1
chr19	16750377	16750377	G	A	exonic	NWD1	.	nonsynonymous SNV	NWD1:NM_001347994:exon5:c.G1117A:p.V373M,NWD1:NM_001007525:exon6:c.G1735A:p.V579M,NWD1:NM_001290355:exon7:c.G1330A:p.V444M	.	435	1086	1	0	0	1	0.000460193	.	.	.	2254583	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.461	0.0519551754757	0.0002	.	0.0002	0.0001	0	0	0	0.0003	0	7.39e-05	0.0001488	23	154602	rs138297508	0.0003	0.0003	0.0002	0.0003	0.0004	0.0002	0.0002	0.0003	0.0003	0	0	3.941e-05	0	1.932e-05	0.0004	0.0003	0.0001	5.854e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	4.827e-05	0	6.554e-05	0	0	0	0	0.0003	0	0	0.007	0.61437	D	0.0	0.92824	D	1.0	0.90584	D	0.984	0.76113	D	0.000182	0.48115	D	0.135577	0.99973	0.48635	D	3.255	0.89877	M	-0.47	0.70133	T	-2.6	0.55983	D	0.599	0.70263	0.247	0.86696	D	0.569	0.84381	D	10	0.707778	0.72848	D	0.051955	0.64874	D	0.461	0.75822	.	.	0.323342291347	0.31936	0.6071666446376018	0.60648	0.498122856725	0.48292	0.573471486568	0.49167	T	0.123865	0.44851	T	-0.175276	0.24442	T	-0.190611	0.55533	T	0.628655672073364	0.37562	D	0.852015	0.53695	D	0.23793906	0.46664	0.2158236	0.46186	0.23793906	0.46664	0.2158236	0.46186	-9.787	0.73323	D	.	.	0.366	0.57573	A	.;.;.;.	.;.;.;.	3.845088	0.55667	23.6	0.99894488445924345	0.96742	0.95875	0.66529	D	AEFBI	0.651249	0.62507	D	0.640950920252777	0.75784	6.367592	0.537267685121865	0.70515	5.516795	0.994890749930552	0.33851	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.04	5.04	0.67293	6.025000	0.70513	7.327000	0.58188	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:0.0:1.0:0.0	15.845	0.78658	906	0.23090	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	366.27	22	chr19	16750377	.	G	A	366.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.01;DP=151;ExcessHet=0;FS=3.166;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=1.18;SOR=1.473	GT:AD:DP:GQ:PL	0/0:21,0:21:63:0,63,613	5	0	1	1
chr19	16862969	16862969	A	G	exonic	SIN3B	.	nonsynonymous SNV	SIN3B:NM_015260:exon10:c.A1352G:p.Y451C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00756506363979	.	.	8.24e-06	0	0	0	0	0	0	6.061e-05	6.5e-06	1	154602	rs750321022	2.737e-06	2.736e-06	0	5.501e-06	1.159e-05	6.4e-07	4.3e-07	.	.	0	0	0	0	0	0	8.995e-07	3.313e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.21385	T	0.088	0.40586	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.88	0.46028	T	-0.32	0.12283	N	0.224	0.25130	-1.0409	0.17041	T	0.045	0.19518	T	9	0.0700717	0.10143	T	0.007565	0.20060	T	0.027	0.05988	0.459	0.52590	0.138757226776	0.13463	0.4162367326755498	0.41539	1.12423409236	0.78393	0.496134519577	0.38290	T	0.08134	0.36573	T	-0.318412	0.07028	T	-0.598299	0.12953	T	0.0109651611718591	0.00158	T	0.588241	0.21547	T	0.12635878	0.29597	0.058122743	0.10685	0.12635878	0.29597	0.058122743	0.10684	-0.97	0.00967	T	.	.	0.102	0.17995	B	.	.	0.160575	0.05513	1.975	0.60292759538197105	0.06428	0.01339	0.04606	N	AEFDBI	0.021102	0.00905	N	-1.37102532316781	0.02913	0.1293472	-1.43317642225258	0.02926	0.1355279	0.952550838932039	0.28023	0.722319	0.85440	0	0.698795	0.70079	0	0.723133	0.82415	0	0.636168	0.56350	0	.	.	1.5	-0.654	0.10868	0.117000	0.15414	-1.669000	0.04949	-0.562000	0.04833	0.029000	0.20367	0.000000	0.08366	0.000000	0.00833	0.5679:0.0:0.4321:0.0	4.201	0.09924	970	0.06235	Histone deacetylase interacting domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	973.63	33	chr19	16862969	.	A	G	973.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.381;DP=251;ExcessHet=0;FS=2.058;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-0.742;SOR=1.026	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1385	6	0	1	0
chr19	16869587	16869587	C	T	exonic	SIN3B	.	nonsynonymous SNV	SIN3B:NM_001297597:exon4:c.C704T:p.P235L,SIN3B:NM_001297595:exon13:c.C1934T:p.P645L,SIN3B:NM_015260:exon14:c.C2030T:p.P677L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.0547199203167	0.0002	.	0.0001	0.0001	0	0	0.0006	0.0001	0	0	9.06e-05	14	154602	rs143042146	8.692e-05	8.756e-05	8.58e-05	8.804e-05	9.712e-05	7.424e-05	6.972e-05	8.212e-05	7.632e-05	2.987e-05	2.236e-05	0	2.519e-05	0.0002	0	9.712e-05	9.935e-05	0	8.539e-05	8.536e-05	5.137e-05	0.0001	0.0001	4.956e-05	3.961e-05	4.765e-05	3.339e-05	9.646e-05	0	0	0	0	0.0002	0	0.0001	0	0	0.01	0.56456	D	0.023	0.57587	D	0.939	0.52645	P	0.357	0.43052	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.65	0.42232	L	0.95	0.43672	T	-2.78	0.59545	D	0.717	0.72388	-0.9501	0.40955	T	0.168	0.50697	T	10	0.29747635	0.47308	T	0.05472	0.65965	D	0.187	0.46274	.	.	0.187035705434	0.18338	0.5820060282427942	0.58129	1.01120329291	0.74783	0.669026613235	0.62699	T	0.249712	0.61971	T	-0.19409	0.21661	T	-0.312023	0.43441	T	0.331920469778608	0.26302	T	0.978169	0.92496	D	0.40134174	0.60826	0.20929268	0.45268	0.40134174	0.60826	0.20929268	0.45267	-11.821	0.83968	D	.	.	0.500	0.64599	A	.;.;.	.;.;.	4.425317	0.68583	25.3	0.99891604423692471	0.96589	0.97971	0.78532	D	AEFBI	0.766271	0.70250	D	0.213921967118372	0.51874	3.365347	0.268966569410399	0.53737	3.541128	0.999999975559644	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.36	4.36	0.51643	5.963000	0.70086	7.538000	0.60033	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	16.875	0.85915	970	0.06235	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	459.63	35	chr19	16869587	.	C	T	459.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.124;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.42;ReadPosRankSum=-0.443;SOR=1.042	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr19	16878274	16878274	G	A	exonic	SIN3B	.	nonsynonymous SNV	SIN3B:NM_001297597:exon9:c.G1816A:p.V606M,SIN3B:NM_001297595:exon18:c.G3046A:p.V1016M,SIN3B:NM_015260:exon19:c.G3142A:p.V1048M	.	.	.	.	.	.	.	.	.	.	.	3311635	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.142	0.0243315889859	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1199662315	7.595e-06	8.209e-06	5.488e-06	9.73e-06	0.0001	4.08e-06	2.98e-06	3.491e-05	2.11e-05	0	0	0	0.0001	0	0	5.423e-06	0	1.185e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	6.541e-05	2.18e-06	8.2e-07	.	.	0	0	6.541e-05	0	0	0	0	1.47e-05	0	0	0.056	0.38185	T	0.071	0.43531	T	0.87	0.52202	P	0.454	0.50368	P	0.000000	0.84330	D	0.000000	0.999975	0.53665	D	1.825	0.47900	L	0.77	0.49919	T	-0.97	0.25770	N	0.745	0.82358	-0.8402	0.52633	T	0.162	0.49814	T	10	0.56374615	0.64933	D	0.024332	0.47317	T	0.142	0.37995	0.563	0.68364	0.286597616719	0.28274	0.5993094019011134	0.59861	0.249796020238	0.27559	0.676941275597	0.63831	T	0.155007	0.49655	T	-0.0167962	0.49309	T	-0.261903	0.48633	T	0.670532584190369	0.39361	D	0.945505	0.79230	D	0.122304365	0.28743	0.12659553	0.30486	0.122304365	0.28743	0.12659553	0.30486	-4.364	0.29448	T	.	.	0.194	0.48458	B	.;.;.	.;.;.	4.971029	0.82265	27.7	0.9983015229268799	0.91198	0.98689	0.85611	D	AEFDBI	0.672329	0.63876	D	0.411066228512802	0.62028	4.412467	0.428835086052238	0.63367	4.569231	0.995291417949702	0.34050	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.92	4.92	0.64147	7.706000	0.83587	9.726000	0.81383	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0:0.0:1.0:0.0	18.110	0.89461	970	0.06235	.;Sin3, C-terminal;Sin3, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1003.49	35	chr19	16878274	.	G	A	1003.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.901;DP=249;ExcessHet=0;FS=0.969;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=-0.863;SOR=0.603	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,110,1234	6	0	1	0
chr19	17011478	17011478	G	A	exonic	CPAMD8	.	nonsynonymous SNV	CPAMD8:NM_015692:exon5:c.C472T:p.P158S	Anterior segement dysgenesis 8, Autosomal recessive	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.642	0.0475784091044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.013	0.63109	D	.	.	.	.	.	.	0.000010	0.62929	U	0.000000	0.989175	0.47118	D	.	.	.	-0.92	0.75108	T	-5.9	0.88839	D	0.775	0.77978	0.266	0.87007	D	0.599	0.85718	D	10	0.9800769	0.97961	D	0.047578	0.62984	D	0.642	0.86384	0.881	0.96884	0.676562671139	0.67381	.	.	0.628153340032	0.56890	0.464317500591	0.33902	T	0.212761	0.57389	T	0.122542	0.66627	D	-0.0617528	0.66209	T	0.994639575481415	0.86044	D	0.836816	0.50885	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.072144	0.60509	24.2	0.99856989166115095	0.93548	0.98349	0.81881	D	AEFDGBI	0.825057	0.74482	D	0.556012304988113	0.70448	5.503106	0.391375583351171	0.61033	4.297864	0.96041002947057	0.28487	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.16	3.16	0.35406	6.806000	0.74984	6.970000	0.57087	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.509000	0.29221	0.0:0.0:1.0:0.0	13.270	0.59587	970	0.06235	.;Alpha-2-macroglobulin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	565.63	31	chr19	17011478	.	G	A	565.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.013;DP=193;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=0.928;SOR=0.906	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1001	6	0	1	0
chr19	17205292	17205292	G	A	exonic	MYO9B	.	nonsynonymous SNV	MYO9B:NM_001130065:exon31:c.G5020A:p.V1674M,MYO9B:NM_004145:exon31:c.G5020A:p.V1674M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00702578762517	8e-05	0.000199681	0.0002	0	0	0	0	0.0003	0	6.059e-05	0.0001682	26	154602	rs201018459	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	0	2.236e-05	0	2.519e-05	0	0	0.0002	0.0002	5.797e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.233e-05	0.0002	0.0002	4.813e-05	0	6.538e-05	0	0	0	0	0.0003	0	0	0.263	0.16412	T	0.225	0.25514	T	.	.	.	.	.	.	0.070649	0.21525	N	0.387331	0.915528	0.27412	N	0.11	0.08516	N	2.54	0.13916	T	-0.41	0.14000	N	0.256	0.28965	-1.0218	0.23129	T	0.018	0.07706	T	10	0.037937313	0.02179	T	0.007026	0.18621	T	0.012	0.01476	.	.	0.2338531098	0.23012	0.7084601083290163	0.70788	0.338732872668	0.35836	0.508960664272	0.40076	T	0.01543	0.12947	T	-0.479773	0.00741	T	-0.612679	0.11769	T	0.0311816677894084	0.02175	T	0.911209	0.68535	D	.	.	.	.	.	.	.	.	-3.812	0.20984	T	.	.	0.097	0.15654	B	.;.;.;.	.;.;.;.	1.787023	0.22719	15.73	0.92932026627775799	0.22497	0.39522	0.26231	N	AEFDGBHCI	0.086732	0.17585	N	-0.55756890558879	0.20246	1.065947	-0.474956457356145	0.22847	1.242941	0.963452712885954	0.28692	0.712529	0.81865	0	0.697927	0.68747	0	0.779548	0.98927	0	0.691587	0.68394	0	.	.	4.38	2.23	0.27189	0.391000	0.20511	2.395000	0.32561	0.658000	0.54486	0.080000	0.22340	0.994000	0.32194	0.989000	0.64315	0.3085:0.0:0.5121:0.1794	3.427	0.06984	923	0.18507	.;Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain;.;Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain|Protein kinase C-like, phorbol ester/diacylglycerol-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	669.44	33	chr19	17205292	.	G	A	669.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.6;DP=265;ExcessHet=0;FS=3.272;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=-0.554;SOR=1.149	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1490	6	0	1	0
chr19	17212276	17212276	G	T	exonic	MYO9B	.	nonsynonymous SNV	MYO9B:NM_004145:exon40:c.G6440T:p.C2147F	.	427	1093	2	0	0	2	0.000914077	.	.	.	756808	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.030	0.110605621021	0.0007	.	0.0009	0	0.0016	0	0	0.0014	0	0.0002	0.0002846	44	154602	rs201009683	0.0003	0.0004	0.0004	0.0003	0.0018	0.0003	0.0003	0.0010	0.0007	0.0002	0.0006	0.0016	0	0	0.0018	0.0003	0.0005	0.0001	0.0005	0.0005	0.0004	0.0006	0.0021	0.0004	0.0004	0.0015	0.0013	4.811e-05	0	0.0021	0.0020	0	0	0.0034	0.0004	0.0009	0.0002	.	.	.	0.102	0.38450	T	.	.	.	.	.	.	0.202366	0.16567	N	0.511841	0.999884	0.50402	D	.	.	.	-2.05	0.85799	D	.	.	.	0.398	0.43899	-0.9210	0.45417	T	0.110	0.39699	T	9	0.031621575	0.01299	T	0.110606	0.78806	D	.	.	.	.	0.267718591433	0.26370	.	.	.	.	0.518901228905	0.41472	T	0.024605	0.18561	T	-0.218814	0.18155	T	-0.209356	0.53757	T	0.0492037875694996	0.05359	T	0.754824	0.37774	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11797	B	.	.	3.432573	0.47710	22.5	0.89194487684164336	0.18590	0.87509	0.47071	D	AEFBI	0.371469	0.45747	N	0.181932966608269	0.50332	3.224187	0.242113777422032	0.52201	3.39662	0.00194315580774608	0.09028	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.84	3.76	0.42368	2.017000	0.40600	5.263000	0.48128	0.614000	0.49286	0.997000	0.40164	1.000000	0.68203	0.688000	0.33778	0.0:0.2162:0.7838:0.0	12.357	0.54507	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003550	0.005155	0.002717	0.008929	0.050000	0.000000	0.006173	0.000000	0.07143	593.83	32	chr19	17212276	.	G	T	593.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.455;DP=219;ExcessHet=0;FS=6.825;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=1.26;SOR=0.458	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,981	6	0	1	0
chr19	17286678	17286692	GTGTGTGTGTGTGTT	0	exonic	ANKLE1	.	.	.	.	559	741	214	4	4	226	0.130282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1882.08	33	chr19	17286678	.	GTGTGTGTGTGTGTT	*	1882.08	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.762;DP=270;ExcessHet=0;FS=3.296;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=19.4;ReadPosRankSum=2.35;SOR=0.397	GT:AD:DP:GQ:PL	0/0:25,0:35:99:312,364,1369	4	0	2	1
chr19	17286684	17286684	G	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	898.39	27	chr19	17286684	.	G	*	898.39	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.286;DP=280;ExcessHet=0.7136;FS=19.529;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=5.72;ReadPosRankSum=2.23;SOR=0.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:25,10:35:99:.:.:312,0,959:.	3	2	1	1
chr19	17286686	17286692	GTGTGTT	0	exonic	ANKLE1	.	.	.	.	513	567	132	0	310	442	0.104265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	372.06	21	chr19	17286686	.	GTGTGTT	*	372.06	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1;DP=283;ExcessHet=0.1336;FS=1.953;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.84;ReadPosRankSum=0.379;SOR=0.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:25,10:35:99:.:.:312,0,959:.	3	2	1	1
chr19	17286688	17286692	GTGTT	0	exonic	ANKLE1	.	.	.	.	525	471	333	8	185	534	0.270333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	1295.06	21	chr19	17286688	.	GTGTT	*	1295.06	.	AC=7;AF=0.583;AN=12;BaseQRankSum=1.13;DP=282;ExcessHet=0.4139;FS=7.251;MLEAC=8;MLEAF=0.667;MQ=60;MQRankSum=0;QD=7.53;ReadPosRankSum=1.35;SOR=0.301	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:25,10:35:99:.:.:312,0,959:.	1	2	3	1
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	323.08	30	chr19	17286692	.	T	*	323.08	.	AC=10;AF=0.833;AN=12;BaseQRankSum=1.07;DP=273;ExcessHet=0;FS=2.13;MLEAC=10;MLEAF=0.833;MQ=60;MQRankSum=0;QD=1.77;ReadPosRankSum=0;SOR=1.506	GT:AD:DP:GQ:PL	1/0:0,12:25:99:1639,388,294	0	4	2	1
chr19	17423731	17423731	G	T	exonic	MVB12A	.	nonsynonymous SNV	MVB12A:NM_138401:exon6:c.G572T:p.G191V,MVB12A:NM_001304547:exon7:c.G296T:p.G99V	.	422	1098	1	1	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.06231881212	0.0008	0.000798722	0.0014	0.0002	0.0010	0	0.0014	0.0018	0.0022	0.0019	0.0014489	224	154602	rs147706400	0.0019	0.0019	0.0019	0.0019	0.0026	0.0019	0.0018	0.0023	0.0022	0.0002	0.0008	0.0013	0	0.0009	0.0003	0.0021	0.0016	0.0026	0.0013	0.0013	0.0013	0.0012	0.0023	0.0011	0.0011	0.0018	0.0017	0.0005	0	0.0003	0.0012	0	0.0008	0	0.0021	0.0005	0.0023	0.136	0.41637	T	0.094	0.39645	T	0.611	0.39680	P	0.196	0.36635	B	0.002062	0.37317	N	0.319630	0.999998	0.58761	D	2.14	0.59869	M	0.94	0.44461	T	-1.87	0.54059	N	0.281	0.31814	-0.9822	0.34491	T	0.097	0.36341	T	10	0.017296463	0.00368	T	0.062319	0.68616	D	0.051	0.14325	.	.	0.629257994256	0.62622	0.5300330700375808	0.52927	0.791390529637	0.65801	0.445301294327	0.31302	T	0.024227	0.30959	T	-0.0126329	0.49897	T	0.204462	0.83371	D	0.0326525676336048	0.02414	T	0.79532	0.43818	T	0.16926722	0.37433	0.12935969	0.31105	0.16926722	0.37432	0.12935969	0.31105	-4.663	0.32953	T	.	.	0.167	0.41572	B	.;.;.;.;.;.	.;.;.;.;.;.	3.666023	0.52110	23.2	0.96004349623463514	0.28425	0.91007	0.52679	D	AEFDBHCI	0.699396	0.65675	D	0.132627319647643	0.47991	3.017168	0.189267752520506	0.49258	3.131159	0.999617667478063	0.40981	0.736574	0.97449	0	0.743671	0.97443	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.1	5.1	0.68917	3.291000	0.51470	9.294000	0.79816	0.675000	0.71128	0.996000	0.39380	1.000000	0.68203	0.398000	0.26737	0.0:0.0:1.0:0.0	14.058	0.64307	684	0.59539	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	149.63	33	chr19	17423731	.	G	T	149.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.574;DP=190;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=0.546;SOR=0.527	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1286	6	0	1	0
chr19	17455656	17455656	C	-	exonic	NXNL1	.	frameshift deletion	NXNL1:NM_138454:exon2:c.630delG:p.L211Cfs*53	.	600	920	2	0	0	2	0.00108578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0051	0	0.0096	0	0	0	0.0125	0.0073	3.84e-05	1	26028	rs748149169	0.0006	0.0006	0.0004	0.0009	0.0066	0.0006	0.0006	0.0043	0.0041	4.838e-05	6.316e-05	9.912e-05	0	0	0.0066	0.0003	0.0005	0.0047	0.0003	0.0003	0.0001	0.0004	0.0051	0.0002	0.0002	0.0035	0.0030	4.853e-05	0	0.0003	0	0	0	0	0.0002	0.0005	0.0051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008974	0.000000	0.000000	0.028736	0.000000	0.000000	0.013889	0.000000	0.1667	458.87	16	chr19	17455655	.	GC	G	458.87	.	AC=2;AF=0.167;AN=12;DP=105;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=30.59;SOR=0.818	GT:AD:DP:GQ:PL	0/0:14,0:14:24:0,24,360	5	1	0	1
chr19	17733420	17733420	G	C	exonic	MAP1S	.	nonsynonymous SNV	MAP1S:NM_001308363:exon6:c.G2938C:p.D980H,MAP1S:NM_018174:exon6:c.G3016C:p.D1006H	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.0240081847222	0.0066	0.00199681	0.0062	0.0009	0.0037	0	0.0018	0.0088	0.0020	0.0054	0.0038874	601	154602	rs114901293	0.0050	0.0050	0.0049	0.0052	0.0055	0.0049	0.0049	0.0054	0.0054	0.0008	0.0021	0.0103	0	0.0027	0.0022	0.0055	0.0045	0.0043	0.0042	0.0042	0.0047	0.0037	0.0069	0.0039	0.0038	0.0064	0.0062	0.0007	0	0.0029	0.0130	0	0.0015	0.0034	0.0069	0.0028	0.0052	0.007	0.59928	D	0.043	0.60972	D	0.992	0.64738	D	0.823	0.59197	P	0.018424	0.27485	N	0.252876	0.855565	0.35296	D	1.65	0.42232	L	2.06	0.20523	T	-2.63	0.56466	D	0.421	0.46086	-0.9916	0.32193	T	0.036	0.15422	T	10	0.0077207386	0.00175	T	0.024008	0.46991	T	0.096	0.27654	.	.	0.151262610727	0.14761	0.5873062928422046	0.58660	0.836008558845	0.67823	0.511370480061	0.40414	T	0.272286	0.64466	T	-0.462618	0.00946	T	-0.43259	0.29641	T	0.0174672846475478	0.00482	T	0.733627	0.39993	T	0.28238627	0.51276	0.24377659	0.49828	0.28238627	0.51276	0.24377659	0.49827	-6.923	0.53469	T	.	.	0.200	0.49740	B	.;.;.	.;.;.	3.572893	0.50333	22.9	0.99057348742439266	0.51390	0.96231	0.68139	D	AEFDBI	0.423772	0.48922	N	0.10266107767407	0.46585	2.896774	-0.01658407121314	0.38965	2.303336	0.650148650604966	0.22154	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	4.29	4.29	0.50359	1.031000	0.29773	6.262000	0.55347	0.575000	0.29119	0.411000	0.26257	1.000000	0.68203	0.062000	0.16114	0.0:0.0:1.0:0.0	14.191	0.65180	970	0.06235	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002024	0.000000	0.002717	0.000000	0.000000	0.000000	0.003086	0.003817	0.07143	1093.53	33	chr19	17733420	.	G	C	1093.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.654;DP=288;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=2.62;SOR=0.75	GT:AD:DP:GQ:PL	0/1:55,48:103:99:1104,0,1266	6	0	1	0
chr19	18173892	18173892	G	-	exonic	IFI30	.	frameshift deletion	IFI30:NM_006332:exon1:c.51delG:p.D18Tfs*15	.	396	1111	13	1	1	16	0.00670541	.	.	.	2811840	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0021	.	0.0010	0	0.0074	0	0	0.0007	0.0149	0.0010	0.000207	32	154602	rs764788458	0.0005	0.0005	0.0005	0.0006	0.0163	0.0005	0.0005	0.0137	0.0127	6.329e-05	0.0021	0.0005	0	6.196e-05	0.0163	0.0004	0.0011	0.0015	0.0006	0.0006	0.0005	0.0006	0.0025	0.0005	0.0004	0.0019	0.0017	0.0001	0	0.0025	0	0	9.407e-05	0.0068	0.0004	0.0019	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005599	0.010526	0.001534	0.011194	0.000000	0.000000	0.003356	0.012097	0.07143	1573.4	42	chr19	18173891	.	TG	T	1573.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.13;DP=301;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=0.311;SOR=0.721	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1012	6	0	1	0
chr19	18257742	18257742	C	T	exonic	IQCN	.	nonsynonymous SNV	IQCN:NM_001145304:exon4:c.G3542A:p.R1181Q,IQCN:NM_001145305:exon4:c.G2843A:p.R948Q,IQCN:NM_025249:exon4:c.G2981A:p.R994Q	.	430	1063	28	1	0	30	0.0139147	.	.	.	2811843	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.048	0.00561481164736	0.0025	0.00199681	0.0027	0.0007	0.0038	0	0.0002	0.0040	0.0012	0.0004	0.0026778	414	154602	rs147110090	0.0038	0.0038	0.0039	0.0037	0.0044	0.0037	0.0037	0.0043	0.0043	0.0007	0.0032	0.0042	2.521e-05	0.0003	0.0028	0.0044	0.0032	0.0007	0.0027	0.0027	0.0028	0.0026	0.0051	0.0025	0.0024	0.0042	0.0038	0.0006	0	0.0051	0.0035	0	9.416e-05	0.0136	0.0041	0.0047	0.0015	0.269	0.16091	T	0.467	0.12351	T	0.648	0.40583	P	0.072	0.28043	B	0.488781	0.05024	N	1.467820	1	0.08975	N	.	.	.	3.94	0.03544	T	-0.1	0.08495	N	0.07	0.05929	-0.9079	0.47109	T	0.004	0.01400	T	10	0.0059554875	0.00134	T	0.005615	0.14500	T	0.048	0.13305	.	.	0.0551355673512	0.04727	0.046398099178604615	0.04583	0.209070641549	0.23371	0.206471741199	0.00670	T	0.004904	0.04322	T	-0.732653	0.00023	T	-0.825326	0.01348	T	0.00359907381321254	0.00038	T	0.559044	0.20591	T	0.023774633	0.01146	0.039027713	0.03904	0.023774633	0.01146	0.039027713	0.03904	-4.45	0.30915	T	.	.	0.081	0.18705	B	.;.;.;.	.;.;.;.	-0.707385	0.01304	0.070	0.95511092694057775	0.27115	0.01951	0.05929	N	AEFDBHCI	0.038037	0.05324	N	-1.10275933400737	0.06594	0.3039807	-1.23907239928053	0.05295	0.2519379	1.11638662379748E-4	0.05269	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.26	-4.28	0.03475	-1.511000	0.02364	-4.576000	0.02087	-1.032000	0.01689	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6529:0.1628:0.1843	8.402	0.31753	871	0.31377	IQ motif, EF-hand binding site;IQ motif, EF-hand binding site;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009567	0.020408	0.012228	0.000000	0.000000	0.000000	0.021341	0.003788	0.07143	1912.44	34	chr19	18257742	.	C	T	1912.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.43;DP=403;ExcessHet=0;FS=0.622;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-0.79;SOR=0.609	GT:AD:DP:GQ:PL	0/1:68,73:141:99:1923,0,1729	6	0	1	0
chr19	18461595	18461595	C	T	exonic	ELL	.	nonsynonymous SNV	ELL:NM_006532:exon5:c.G727A:p.D243N	.	428	1088	5	1	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	.	0.0010	0.00139776	0.0021	0.0001	0.0114	0.0001	0.0003	0.0009	0	0.0035	0.0019275	298	154602	rs139501652	0.0013	0.0013	0.0013	0.0014	0.0102	0.0013	0.0013	0.0094	0.0091	0.0002	0.0102	0	0	0.0006	0.0002	0.0010	0.0012	0.0028	0.0012	0.0012	0.0012	0.0013	0.0058	0.0011	0.0010	0.0048	0.0045	0.0003	0	0.0058	0	0	0.0003	0	0.0010	0.0009	0.0019	0.205	0.20002	T	0.59	0.10821	T	0.884	0.48618	P	0.394	0.44277	B	0.000000	0.84330	D	0.045988	0.999346	0.46733	D	1.665	0.42610	L	1.54	0.30133	T	-1.31	0.32791	N	0.584	0.60495	-1.0815	0.07060	T	0.073	0.29515	T	10	0.009842873	0.00221	T	.	.	.	0.140	0.37593	.	.	0.672091085021	0.66932	0.5249056043786161	0.52414	1.20271879538	0.80588	0.451839208603	0.32195	T	0.098427	0.40223	T	-0.589992	0.00168	T	-0.609871	0.11996	T	0.0187693613425618	0.00589	T	0.913009	0.72135	D	0.21907002	0.44430	0.16878498	0.38865	0.21907002	0.44430	0.16878498	0.38864	-5.56	0.42425	T	.	.	0.144	0.41888	B	.;.	.;.	2.879605	0.38101	20.7	0.99461889081134958	0.65840	0.93849	0.59369	D	AEFGBCI	0.567018	0.57277	D	0.0388668100051157	0.43633	2.652314	0.0148012308514344	0.40402	2.410536	0.999999720299646	0.74766	0.631981	0.41245	0	0.577304	0.33150	0	0.779548	0.98927	0	0.636168	0.56350	0	.	.	4.37	4.37	0.51830	4.624000	0.60955	4.807000	0.45013	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.010000	0.09038	0.0:1.0:0.0:0.0	16.095	0.80921	958	0.09170	RNA polymerase II elongation factor ELL, N-terminal;RNA polymerase II elongation factor ELL, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	84.63	25	chr19	18461595	.	C	T	84.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.837;DP=178;ExcessHet=0;FS=2.029;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=-0.141;SOR=0.269	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1171	6	0	1	0
chr19	18884240	18884240	C	T	exonic	CERS1	.	nonsynonymous SNV	CERS1:NM_001290265:exon3:c.G143A:p.R48Q,CERS1:NM_021267:exon3:c.G437A:p.R146Q,CERS1:NM_198207:exon3:c.G437A:p.R146Q	.	420	1081	21	0	0	21	0.00961979	.	.	.	469512	Progressive_myoclonic_epilepsy_type_8	MONDO:MONDO:0014545,MedGen:C5190825,OMIM:616230,Orphanet:424027	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.187	0.111186551468	.	0.000199681	0.0003	0	0	0.0001	0	0.0001	0.0013	0.0016	0.0002199	34	154602	rs201005099	0.0001	0.0001	7.899e-05	0.0002	0.0023	0.0001	0.0001	0.0013	0.0012	0	4.476e-05	0	5.039e-05	0	0.0023	1.889e-05	0.0004	0.0015	4.601e-05	4.594e-05	5.144e-05	4.033e-05	0.0002	2.11e-05	1.527e-05	1.171e-05	6.25e-06	0	0	6.553e-05	0	0	0	0	4.411e-05	0.0010	0.0002	0.335	0.14843	T	0.629	0.07842	T	0.013	0.16609	B	0.012	0.16012	B	.	.	.	.	0.996427	0.81001	N	0.54	0.13725	N	-1.89	0.84557	D	-0.64	0.19933	N	0.243	0.28028	-0.6339	0.63405	T	0.395	0.74829	T	9	0.02847308	0.00979	T	0.111187	0.78886	D	0.187	0.46274	.	.	0.438278051908	0.43446	.	.	.	.	0.284476578236	0.08124	T	0.536708	0.84064	D	-0.378817	0.03170	T	-0.341549	0.40169	T	0.02746082407502	0.01610	T	0.775922	0.40781	T	0.036260776	0.04428	0.03857445	0.03757	0.043206904	0.06692	0.039683353	0.04118	-6.045	0.46654	T	0.1983911356062313	0.26269	0.088	0.13080	B	.;.;.	.;.;.	1.217706	0.16111	12.33	0.97735577517697381	0.35646	0.39342	0.26191	N	AEFBHCI	0.220516	0.34526	N	-0.681057154112685	0.16563	0.8449095	-0.64067046042269	0.18452	0.985804	0.999998515731578	0.74766	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.755437	0.99637	0	.	.	4.12	3.08	0.34576	1.010000	0.29500	0.706000	0.20886	-0.371000	0.05444	0.523000	0.27135	0.176000	0.23382	0.014000	0.10232	0.0:0.7291:0.1716:0.0993	7.298	0.25579	929	0.16858	TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain;.;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002591	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.007576	0.07143	1478.63	41	chr19	18884240	.	C	T	1478.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.15;DP=317;ExcessHet=0;FS=2.301;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.226;SOR=0.919	GT:AD:DP:GQ:PL	0/1:68,63:131:99:1489,0,1498	6	0	1	0
chr19	18931351	18931351	G	A	exonic	HOMER3	.	nonsynonymous SNV	HOMER3:NM_001145724:exon7:c.C760T:p.R254C,HOMER3:NM_001145721:exon9:c.C868T:p.R290C,HOMER3:NM_001145722:exon9:c.C868T:p.R290C,HOMER3:NM_004838:exon9:c.C868T:p.R290C	.	416	1069	34	3	0	40	0.0183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	0.0045	0.00399361	0.0068	0.0008	0.0114	0.0001	0.0033	0.0061	0.0022	0.0157	0.0062677	969	154602	rs78642721	0.0056	0.0056	0.0052	0.0060	0.0167	0.0055	0.0055	0.0160	0.0157	0.0007	0.0098	3.826e-05	0	0.0031	0.0106	0.0052	0.0052	0.0167	0.0040	0.0040	0.0038	0.0042	0.0141	0.0037	0.0036	0.0114	0.0104	0.0012	0	0.0044	0	0.0002	0.0027	0.0034	0.0056	0.0043	0.0141	0.066	0.36113	T	0.101	0.67890	T	1.0	0.90584	D	0.972	0.72692	D	0.000026	0.55875	D	0.111882	0.966903	0.25872	N	1.445	0.36358	L	2.15	0.19311	T	-0.22	0.10480	N	0.531	0.63035	-1.1407	0.01332	T	0.049	0.21065	T	10	0.004689038	0.00099	T	.	.	.	0.141	0.37795	.	.	0.313518423057	0.30959	0.35345698271732423	0.35259	1.25890098096	0.81979	0.553090393543	0.46294	T	0.039871	0.25338	T	-0.386508	0.02833	T	-0.314995	0.43120	T	0.0321068883043341	0.02323	T	0.933207	0.76886	D	0.2587144	0.48921	0.07418557	0.16201	0.2587144	0.48921	0.07418557	0.16201	-7.196	0.57744	T	.	.	0.209	0.48756	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.740104	0.53550	23.4	0.99545217354663218	0.70773	0.42051	0.26792	N	AEFDBI	0.160883	0.28687	N	-0.0442349400043013	0.39860	2.35759	-0.176968025269515	0.32385	1.841962	0.555651571828138	0.21372	0.67177	0.52595	0	0.550933	0.16991	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.33	1.46	0.21769	3.197000	0.50730	9.382000	0.80522	0.676000	0.76740	0.552000	0.27362	1.000000	0.68203	0.052000	0.15357	0.0799:0.1389:0.6381:0.1431	5.314	0.15154	934	0.15400	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.000000	0.000000	0.008772	0.000000	0.000000	0.009146	0.018939	0.1429	790.63	34	chr19	18931351	.	G	A	790.63	.	AC=2;AF=0.143;AN=14;DP=208;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=28.24;SOR=0.836	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1271	6	1	0	0
chr19	19202485	19202485	G	A	exonic	NR2C2AP	.	nonsynonymous SNV	NR2C2AP:NM_001300945:exon3:c.C220T:p.R74W,NR2C2AP:NM_176880:exon3:c.C220T:p.R74W	.	428	1093	1	0	0	1	0.000457247	.	.	.	3362516	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.347	0.271530317722	0.0002	.	4.133e-05	0.0002	8.657e-05	0	0	1.505e-05	0	6.061e-05	3.23e-05	5	154602	rs147207744	1.231e-05	1.231e-05	9.529e-06	1.513e-05	0.0002	7.7e-06	6.35e-06	7.712e-05	5.305e-05	0.0002	0	0	0	0	0.0002	7.194e-06	0	3.478e-05	3.944e-05	3.94e-05	5.14e-05	2.691e-05	0.0002	1.716e-05	1.13e-05	8e-06	2.99e-06	4.826e-05	0	6.551e-05	0	0.0002	0	0	2.94e-05	0	0	0.008	0.58626	D	0.01	0.65728	D	0.986	0.61523	D	0.646	0.52296	P	0.483737	0.12136	N	0.755060	1	0.08975	N	1.59	0.40313	L	-4.83	0.98213	D	-2.67	0.57110	D	0.37	0.41952	0.551	0.91250	D	0.899	0.96655	D	10	0.32791772	0.50068	T	0.27153	0.89897	D	0.347	0.66863	.	.	0.738533403591	0.73619	0.42997906830303645	0.42914	0.55338393667	0.52113	0.213305860758	0.00959	T	0.193032	0.54837	T	-0.01885	0.49018	T	-0.0833252	0.64660	T	0.68551504611969	0.40041	D	0.929607	0.73996	D	0.09919919	0.23407	0.11682038	0.28201	0.09919919	0.23407	0.11682038	0.28201	-8.597	0.70604	D	.	.	0.108	0.20313	B	.;.;.	.;.;.	3.511695	0.49179	22.7	0.99824921696868452	0.90764	0.21593	0.21456	N	AEFDBCI	0.448808	0.50389	N	-0.188480063990613	0.33612	1.908979	-0.317629177520249	0.27528	1.528215	0.999999463607033	0.74766	0.542737	0.22433	0	0.516746	0.08562	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	4.48	2.34	0.28071	0.753000	0.26042	.	.	0.676000	0.76740	0.002000	0.15269	0.024000	0.20971	0.872000	0.41544	0.2087:0.0:0.7913:0.0	6.956	0.23752	730	0.54327	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	939.83	30	chr19	19202485	.	G	A	939.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.68;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-0.222;SOR=0.779	GT:AD:DP:GQ:PL	0/1:48,38:86:99:950,0,1146	6	0	1	0
chr19	19268050	19268050	G	A	exonic	TM6SF2	.	nonsynonymous SNV	TM6SF2:NM_001001524:exon7:c.C647T:p.P216L	.	406	1099	17	0	0	17	0.00767494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.596	0.109003907136	0.0002	0.000599042	0.0004	0	0.0012	0	0	0.0005	0.0045	0.0002	0.0003881	60	154602	rs186811910	0.0004	0.0004	0.0004	0.0004	0.0113	0.0003	0.0003	0.0091	0.0083	0.0004	0.0011	0.0008	0	0	0.0113	0.0003	0.0011	0.0003	0.0006	0.0006	0.0006	0.0006	0.0038	0.0005	0.0005	0.0030	0.0027	9.632e-05	0	0.0038	0.0003	0	0	0.0034	0.0003	0.0028	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000240	0.47286	U	0.000000	1	0.81001	D	3.11	0.87757	M	0.75	0.50192	T	-7.98	0.96395	D	0.879	0.87699	-0.4054	0.71857	T	0.248	0.61762	T	10	0.42586207	0.57169	T	0.109004	0.78579	D	0.596	0.83965	.	.	0.356484672536	0.35262	0.6789202065776354	0.67831	0.806251199678	0.66477	0.468622773886	0.34490	T	0.298611	0.67117	T	0.0305121	0.55791	T	0.191791	0.82669	D	0.424041986465454	0.29840	T	0.973803	0.90577	D	0.6937057	0.77712	0.49910516	0.71039	0.6937057	0.77714	0.49910516	0.71040	-10.515	0.76933	D	.	.	0.327	0.55011	B	.	.	4.483275	0.69966	25.5	0.99820414673699931	0.90326	0.98494	0.83372	D	AEFDBI	0.845905	0.76280	D	0.584315029465696	0.72196	5.767704	0.446677935506681	0.64503	4.707086	0.999998193255724	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	4.74	4.74	0.59717	7.921000	0.86938	.	.	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.058000	0.15825	0.0:0.0:1.0:0.0	15.219	0.72983	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.000000	0.012228	0.023392	0.000000	0.025862	0.006098	0.007576	0.07143	1327.53	35	chr19	19268050	.	G	A	1327.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.354;DP=270;ExcessHet=0;FS=3.042;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=-0.502;SOR=0.385	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1427	6	0	1	0
chr19	19542549	19542549	G	A	exonic	CILP2	.	nonsynonymous SNV	CILP2:NM_153221:exon5:c.G767A:p.R256H	.	413	1108	1	0	0	1	0.00045106	.	.	.	3293849	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	0.00901405987365	.	.	5.792e-05	0	0	0.0001	0	7.529e-05	0	6.061e-05	5.17e-05	8	154602	rs746138110	2.258e-05	2.257e-05	1.77e-05	2.75e-05	0.0002	1.61e-05	1.416e-05	5.396e-05	4.042e-05	0	2.236e-05	0	5.038e-05	0	0.0002	1.709e-05	1.656e-05	0.0001	5.91e-05	5.906e-05	6.425e-05	5.372e-05	0.0002	3.076e-05	2.209e-05	3.762e-05	2.575e-05	0	0.0011	6.537e-05	0	0	0	0	8.82e-05	0	0.0002	0.195	0.20759	T	0.123	0.35582	T	0.011	0.15914	B	0.009	0.14300	B	0.654236	0.10485	N	0.860909	1	0.08975	N	1.01	0.25309	L	0.89	0.45636	T	-0.45	0.14782	N	0.087	0.06454	-1.0526	0.13682	T	0.052	0.22114	T	10	0.031148076	0.01246	T	0.009014	0.23726	T	0.019	0.03383	0.512	0.61000	0.183819452728	0.17975	0.22321517960196918	0.22236	0.450419126629	0.44807	0.208969503641	0.00768	T	0.028117	0.20438	T	-0.482508	0.00715	T	-0.705164	0.05548	T	0.0329962894198669	0.02470	T	0.349965	0.07784	T	0.01850074	0.00371	0.020112673	0.00119	0.01850074	0.00371	0.020112673	0.00119	-5.975	0.46070	T	.	.	0.078	0.07554	B	.;.	.;.	-0.300937	0.02613	0.326	0.90033307310157074	0.19321	0.00559	0.02549	N	AEFBIJ	0.021178	0.00915	N	-1.74757219539391	0.00687	0.02962901	-1.85909081534298	0.00588	0.02611209	0.99965679095282	0.41424	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.94	-8.87	0.00682	-0.647000	0.05495	.	.	-0.798000	0.03190	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4396:0.0:0.3561:0.2043	5.661	0.16942	432	0.80690	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	2152.44	36	chr19	19542549	.	G	A	2152.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.018;DP=346;ExcessHet=0;FS=1.254;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=1.31;SOR=0.665	GT:AD:DP:GQ:PL	0/1:71,86:157:99:2163,0,1633	6	0	1	0
chr19	20624371	20624371	G	0	exonic	ZNF626	.	.	.	.	798	89	186	378	71	1013	0.841071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	7773.01	48	chr19	20624371	.	G	*	7773.01	.	AC=2;AF=0.2;AN=10;BaseQRankSum=1.21;DP=520;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.3;MQ=57.23;MQRankSum=-2.933;QD=22.4;ReadPosRankSum=0.944;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:139:99:1|1:20624371_G_GA:5865,4091,3759:20624371	4	1	0	2
chr19	20624379	20624379	C	0	exonic	ZNF626	.	.	.	.	805	84	185	376	72	1009	0.847964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	7733.59	48	chr19	20624379	.	C	*	7733.59	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.587;DP=519;ExcessHet=0;FS=0.687;MLEAC=3;MLEAF=0.3;MQ=57.14;MQRankSum=-2.819;QD=21.97;ReadPosRankSum=-0.576;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:145:99:1|1:20624371_G_GA:6039,4244,3919:20624371	4	1	0	2
chr19	20624464	20624464	A	0	exonic	ZNF626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	4691.96	48	chr19	20624464	.	A	*	4691.96	.	AC=2;AF=0.333;AN=6;DP=525;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.5;MQ=57.22;QD=14.66;SOR=1.019	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:239:99:1|1:20624371_G_GA:6233,4698,5393:20624371	2	1	0	4
chr19	20624486	20624486	C	T	exonic	ZNF626	.	nonsynonymous SNV	ZNF626:NM_001076675:exon4:c.G1391A:p.C464Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	.	0.446885	2.998e-05	0	0	0.0004	0	0	0	0	0.0919779	2394	26028	rs4809072	0.0002	0.0002	0.0001	0.0002	0.0030	0.0001	0.0001	0.0022	0.0019	0	0.0004	0	0.0030	0.0001	0	7.296e-05	0	7.04e-05	0.0003	0.0010	0.0003	0.0002	0.0003	0.0001	0.0001	0.0001	7.42e-05	0.0003	0	0	0	0	0.0011	0	0.0003	0	0	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	P	-0.28	0.03718	N	3.31	0.06291	T	.	.	.	0.025	0.00485	-0.9838	0.34116	T	0.027	0.11663	T	7	0.0010643601	0.00013	T	.	.	.	.	.	.	.	0.119812018005	0.11559	0.02119906159764436	0.02072	0.0631605856782	0.07030	.	.	.	0.001634	0.01065	T	-0.449283	0.01140	T	-0.883141	0.00628	T	0.0362565110174806	0.03025	T	0.00926574	0.00046	T	0.056330957	0.11069	0.077378936	0.17230	0.056330957	0.11069	0.077378936	0.17229	-2.064	0.03432	T	.	.	0.153	0.33891	B	.	.	-0.492626	0.01890	0.156	0.18917596573791187	0.00616	0.00218	0.01233	N	AEFBCI	0.012875	0.00154	N	-1.9627230173346	0.00254	0.01089118	-2.01786009745421	0.00281	0.01238821	1.5135310678986E-6	0.01202	0.475973	0.10046	0	0.573888	0.26702	0	0.670488	0.60580	0	0.564101	0.26826	0	.	.	0.832	-1.66	0.07824	-1.044000	0.03642	.	.	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7464:0.0:0.2536	6.437	0.21031	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.424958	0.354839	0.417339	0.400000	0.375000	0.513889	0.505319	0.462963	0.3333	4112.96	48	chr19	20624486	.	C	T	4112.96	.	AC=2;AF=0.333;AN=6;DP=508;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.5;MQ=58.03;QD=13.53;SOR=1.069	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,223:223:99:1|1:20624371_G_GA:5595,494,0:20624371	2	1	0	4
chr19	20624486	20624486	C	0	exonic	ZNF626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	4112.96	48	chr19	20624486	.	C	*	4112.96	.	AC=2;AF=0.333;AN=6;DP=508;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.5;MQ=58.03;QD=13.53;SOR=1.069	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:223:99:1|1:20624371_G_GA:5595,4119,4839:20624371	2	1	0	4
chr19	20624522	20624533	AATTTCTCTCCA	-	exonic	ZNF626	.	nonframeshift deletion	ZNF626:NM_001076675:exon4:c.1344_1355del:p.G449_F452del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	68.06	53	chr19	20624521	.	GAATTTCTCTCCA	G	68.06	.	AC=2;AF=0.143;AN=14;DP=435;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.8;QD=34.03;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:1:1|1:20624371_G_GA:79,1,0:20624371	6	1	0	0
chr19	20624535	20624685	TATGAATTCTCCTATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGTACTTAAAAGCTTTGCCACATTCTTCACATTT	-	exonic	ZNF626	.	frameshift deletion	ZNF626:NM_001076675:exon4:c.1192_1342del:p.K398Lfs*64	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	55.8	56	chr19	20624534	.	GTATGAATTCTCCTATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGTACTTAAAAGCTTTGCCACATTCTTCACATTT	G	55.8	.	AC=1;AF=0.071;AN=14;DP=498;ExcessHet=0;FS=4.771;MLEAC=1;MLEAF=0.071;MQ=58.52;MQRankSum=-0.967;QD=18.6;SOR=2.225	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:15:0|1:20624371_G_GA:66,0,15:20624371	6	0	1	0
chr19	20624546	20624546	C	0	exonic	ZNF626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	10193.8	57	chr19	20624546	.	C	*	10193.8	.	AC=2;AF=0.25;AN=8;BaseQRankSum=1.78;DP=479;ExcessHet=0;FS=3.865;MLEAC=1;MLEAF=0.125;MQ=55.19;MQRankSum=-0.843;QD=30.37;ReadPosRankSum=0.469;SOR=0.816	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:3:1|1:20624371_G_GA:3881,265,0:20624371	3	1	0	3
chr19	21293681	21293681	A	T	exonic	ZNF708	.	nonsynonymous SNV	ZNF708:NM_001297561:exon3:c.T1093A:p.F365I,ZNF708:NM_001297560:exon4:c.T1093A:p.F365I,ZNF708:NM_021269:exon4:c.T1285A:p.F429I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.00340595577744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.87	0.46412	T	-5.35	0.84742	D	0.414	0.45426	-0.8791	0.49833	T	0.256	0.62688	T	9	0.3584057	0.52534	T	0.003406	0.07633	T	0.160	0.41473	.	.	0.544432747571	0.54097	0.049403792702635195	0.04883	0.394183223072	0.40577	0.457398414612	0.32954	T	.	.	.	-0.0507867	0.44327	T	-0.310728	0.43580	T	0.930095396345344	0.59458	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.643	0.70645	P	.	.	2.592231	0.33630	19.40	0.97889070327910654	0.36655	0.76106	0.37302	D	AEFBI	0.087131	0.17666	N	0.122708070554099	0.47523	2.976889	-0.191005068984238	0.31866	1.80744	1.79035990645971E-5	0.02871	0.651	0.46895	0	0.708844	0.79440	0	0.463624	0.06942	0	0.683762	0.67416	0	.	.	1.05	1.05	0.19280	6.573000	0.73899	.	.	0.648000	0.52827	0.999000	0.42656	0.972000	0.29809	0.001000	0.02609	0.7667:0.0:0.2333:0.0	3.807	0.08298	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	904.46	59	chr19	21293681	.	A	T	904.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.802;DP=239;ExcessHet=0;FS=7.415;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.33;ReadPosRankSum=-0.039;SOR=1.675	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1125	6	0	1	0
chr19	21383191	21383191	G	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G645A:p.M215I	.	525	981	16	0	0	16	0.00808898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs910428921	1.384e-06	0.0003	0	2.783e-06	2.276e-05	2.3e-07	9e-08	.	.	0	2.276e-05	0	0	0	0	9.092e-07	0	0	0	0.0038	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	128.23	84	chr19	21383191	.	G	A	128.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.14;DP=405;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=57.77;MQRankSum=-2.859;QD=9.16;ReadPosRankSum=0.254;SOR=0.412	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:173,0:173:0:.:.:0,0,2536:.	5	0	1	1
chr19	21383196	21383196	T	C	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.T650C:p.L217S	.	531	981	10	0	0	10	0.00507099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380787073	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.719e-06	0.0012	1.31e-05	0	1.497e-05	0	0	.	.	0	0	0	0	0	0	0	1.497e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	86.23	80	chr19	21383196	.	T	C	86.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.96;DP=391;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=57.59;MQRankSum=-3.323;QD=6.63;ReadPosRankSum=0.085;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:164,0:164:0:.:.:0,0,2195:.	5	0	1	1
chr19	21383203	21383203	-	ACTC	exonic	ZNF738	.	frameshift insertion	ZNF738:NM_001355237:exon5:c.657_658insACTC:p.G220Tfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434000702	0	5.341e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	0.0004	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	85.4	39	chr19	21383203	.	A	AACTC	85.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.56;DP=341;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.59;MQRankSum=-3.323;QD=6.57;ReadPosRankSum=-0.932;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:155,0:155:99:.:.:0,120,1800:.	6	0	1	0
chr19	21383206	21383209	TCAA	-	exonic	ZNF738	.	frameshift deletion	ZNF738:NM_001355237:exon5:c.660_663del:p.Q221Ifs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310884774	0	4.382e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.714e-06	0.0004	1.31e-05	0	1.494e-05	0	0	.	.	0	0	0	0	0	0	0	1.494e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	83.18	39	chr19	21383205	.	GTCAA	G	83.18	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.65;DP=327;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=57.77;MQRankSum=-3.474;QD=5.94;ReadPosRankSum=-1.645;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:140,0:140:0:.:.:0,0,1960:.	5	0	1	1
chr19	21383393	21383393	G	0	exonic	ZNF738	.	.	.	.	617	630	79	26	170	301	0.0941769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	964.56	55	chr19	21383393	.	G	*	964.56	.	AC=5;AF=0.357;AN=14;DP=319;ExcessHet=0.0509;FS=4.711;MLEAC=5;MLEAF=0.357;MQ=60;QD=4;SOR=0.444	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1147:.	3	1	3	0
chr19	21383502	21383502	A	G	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.A956G:p.E319G	.	504	1000	18	0	0	18	0.00891972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00738818	.	.	.	.	.	.	.	.	0.0058014	151	26028	rs183182806	0.0100	0.0096	0.0096	0.0103	0.0157	0.0098	0.0097	0.0150	0.0147	0.0016	0.0054	0.0089	0	0.0028	0.0133	0.0113	0.0096	0.0157	0.0068	0.0069	0.0071	0.0065	0.0169	0.0065	0.0063	0.0139	0.0128	0.0019	0	0.0073	0.0127	0.0002	0.0015	0.0103	0.0100	0.0099	0.0169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	689.49	60	chr19	21383502	.	A	G	689.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.99;DP=295;ExcessHet=0;FS=2.296;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.704;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1147:.	6	0	1	0
chr19	21536883	21536883	G	T	exonic	ZNF429	.	nonsynonymous SNV	ZNF429:NM_001346916:exon3:c.G638T:p.R213I,ZNF429:NM_001001415:exon4:c.G830T:p.R277I,ZNF429:NM_001346912:exon4:c.G824T:p.R275I,ZNF429:NM_001346914:exon4:c.G734T:p.R245I,ZNF429:NM_001346913:exon5:c.G734T:p.R245I,ZNF429:NM_001346915:exon5:c.G734T:p.R245I	.	409	1106	7	0	0	7	0.00315457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0002	0.00938498	0.0053	0.0001	0.0004	0.0001	0	0	0.0022	0.0380	0.004573	707	154602	rs199693920	0.0022	0.0022	0.0012	0.0033	0.0360	0.0022	0.0022	0.0349	0.0345	8.964e-05	0	0	0.0001	0	0.0012	1.62e-05	0.0026	0.0360	0.0013	0.0014	0.0006	0.0021	0.0406	0.0012	0.0011	0.0359	0.0342	9.655e-05	0	0	0	0.0004	0	0	2.943e-05	0.0005	0.0406	0.52	0.07259	T	0.216	0.26226	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	0.998642	0.45212	D	2.32	0.66415	M	1.83	0.24841	T	-0.53	0.16393	N	0.21	0.23380	-1.0889	0.05718	T	0.056	0.23450	T	9	0.0024617016	0.00037	T	.	.	.	0.023	0.04649	.	.	0.149567049428	0.14543	0.032585035518114376	0.03206	0.0363114546426	0.03840	0.337922990322	0.16126	T	0.007856	0.07238	T	-0.25824	0.13106	T	-0.608721	0.12089	T	0.0146768156497878	0.00304	T	0.49565	0.15376	T	0.071844876	0.15937	0.08453206	0.19454	0.071844876	0.15936	0.08453206	0.19454	-5.049	0.37367	T	.	.	0.090	0.12844	B	.;.	.;.	0.570695	0.09394	6.172	0.57253904702892233	0.05729	0.00146	0.00887	N	AEFBHCI	0.088706	0.17982	N	-1.01825197468345	0.08225	0.3849022	-1.16164642087675	0.06561	0.3162134	0.830466813901824	0.24684	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.564101	0.26826	0	.	.	0.876	0.876	0.18274	-0.126000	0.10539	.	.	0.234000	0.18175	0.000000	0.06391	0.000000	0.08366	0.137000	0.19835	0.0:0.0:1.0:0.0	8.563	0.32684	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006566	0.000000	0.000000	0.002994	0.000000	0.000000	0.003049	0.030303	0.07143	546.46	40	chr19	21536883	.	G	T	546.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.314;DP=252;ExcessHet=0;FS=1.093;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-0.719;SOR=0.748	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1258	6	0	1	0
chr19	21971970	21971970	T	C	exonic	ZNF208	.	nonsynonymous SNV	ZNF208:NM_007153:exon4:c.A3064G:p.I1022V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00127579957677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	2.052e-06	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	0	6.575e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.172	0.22660	T	0.324	0.25061	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.365	0.12025	N	3.22	0.07024	T	-0.34	0.12661	N	0.136	0.13341	-0.9424	0.42234	T	0.013	0.04938	T	8	0.06240055	0.07973	T	0.001276	0.01733	T	0.013	0.01715	.	.	0.0551355673512	0.04727	0.0023966970669596997	0.00222	0.0294820826827	0.03029	0.593373060226	0.51970	T	0.001048	0.00572	T	-0.352975	0.04543	T	-0.744801	0.03692	T	0.048585378230822	0.05248	T	0.109789	0.00823	T	0.024239777	0.01236	0.032372028	0.01963	0.024239777	0.01236	0.032372028	0.01963	-8.733	0.65962	D	.	.	0.199	0.42273	B	.;.	.;.	0.366307	0.07386	4.012	0.91420010714935018	0.20688	0.03551	0.08752	N	AEBHCI	0.042744	0.06672	N	-1.16656969511267	0.05513	0.2515036	-1.31106582347987	0.04286	0.2018595	1.71477131093844E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.58	-1.77	0.07551	-0.337000	0.07898	.	.	-0.377000	0.05411	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2185:0.3276:0.4539	4.276	0.10255	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	52.44	33	chr19	21971970	.	T	C	52.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.812;DP=399;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.72;MQRankSum=-2.2;QD=5.83;ReadPosRankSum=0;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,100,1083:.	6	0	1	0
chr19	21971972	21971972	T	C	exonic	ZNF208	.	nonsynonymous SNV	ZNF208:NM_007153:exon4:c.A3062G:p.K1021R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00117496099464	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1285268443	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.838e-06	4.69e-05	0	1.401e-05	1.511e-05	0	0	.	.	0	0	0	0	0	0	0	1.511e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.9	0.01342	N	2.29	0.17113	T	0.79	0.01893	N	0.083	0.05929	-0.9533	0.40398	T	0.014	0.05561	T	8	0.037503242	0.02109	T	0.001175	0.01484	T	0.017	0.02790	.	.	0.104622674875	0.10061	0.0023595979001155474	0.00218	0.00879187926376	0.00795	0.427874863148	0.28918	T	4.32E-4	0.00146	T	-0.457775	0.01015	T	-0.895339	0.00536	T	0.0440131190690142	0.04423	T	0.0521948	0.00394	T	0.018259525	0.00347	0.028339215	0.01062	0.018259525	0.00347	0.028339215	0.01062	-4.567	0.31754	T	.	.	0.054	0.00658	B	.;.	.;.	-1.239373	0.00493	0.011	0.08569832262126427	0.00070	0.00406	0.02023	N	AEBHCI	0.019046	0.00627	N	-1.46673003195739	0.02089	0.09186849	-1.53832911001359	0.02057	0.09405837	1.52464582226582E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.58	-0.0893	0.13004	-1.504000	0.02379	.	.	-0.606000	0.04599	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3715:0.5069:0.0:0.1215	4.559	0.11548	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	49.44	33	chr19	21971972	.	T	C	49.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.812;DP=400;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.85;MQRankSum=-2.287;QD=4.94;ReadPosRankSum=0.282;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,100,1083:.	6	0	1	0
chr19	21971999	21971999	C	G	exonic	ZNF208	.	nonsynonymous SNV	ZNF208:NM_007153:exon4:c.G3035C:p.W1012S	.	.	.	.	.	.	.	.	.	.	.	4106341	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.000866676226316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.505	0.18071	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.13	0.04535	N	3.21	0.07125	T	-0.32	0.12283	N	0.323	0.36359	-0.9159	0.46103	T	0.010	0.03856	T	8	0.09103167	0.15910	T	8.67E-4	0.00777	T	0.022	0.04323	.	.	0.0920862733494	0.08535	0.009212835826987663	0.00884	0.00814575459955	0.00735	0.411447227001	0.26657	T	0.001544	0.00986	T	-0.334951	0.05746	T	-0.71891	0.04849	T	0.02861368435377	0.01779	T	0.00360873	0.00010	T	0.043089893	0.06653	0.051901434	0.08447	0.043089893	0.06652	0.051901434	0.08446	-10.014	0.73996	D	.	.	0.341	0.55998	A	.;.	.;.	-0.025143	0.04112	0.972	0.47439688430646498	0.03879	0.03043	0.07935	N	AEFBHCI	0.041736	0.06386	N	-1.18151287201977	0.05280	0.2403064	-1.31351629495855	0.04255	0.2002903	4.82218353850094E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.58	-3.66	0.04200	-5.618000	0.00131	.	.	-2.519000	0.00257	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3573:0.457:0.0:0.1857	4.433	0.10963	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	46.44	33	chr19	21971999	.	C	G	46.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.23;DP=401;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.95;MQRankSum=-2.362;QD=4.22;ReadPosRankSum=2.36;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,100,1083:.	6	0	1	0
chr19	21974042	21974042	T	C	exonic	ZNF208	.	nonsynonymous SNV	ZNF208:NM_007153:exon4:c.A992G:p.H331R	.	435	1078	1	0	8	9	0.000463607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.383	0.0182571118518	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1469411070	1.689e-06	1.463e-06	3.333e-06	0	8.339e-05	2.8e-07	1.1e-07	1.479e-05	6.16e-06	0	0	0	8.339e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.03	0.83351	D	1.0	0.90584	D	0.94	0.67560	D	.	.	.	.	0.913876	0.27447	N	3.27	0.90083	M	-2.18	0.86722	D	-7.15	0.94096	D	0.311	0.35088	0.073	0.83680	D	0.734	0.90916	D	8	0.9101244	0.90377	D	0.018257	0.40264	T	0.383	0.70029	0.892	0.97414	0.931758588817	0.93105	0.1103016894883463	0.10959	0.0495021571329	0.05423	0.564856767654	0.47952	T	0.040044	0.25396	T	0.0949579	0.63743	D	-0.101376	0.63292	T	0.986868798732758	0.77480	D	0.393961	0.09832	T	0.43457738	0.63051	0.3813112	0.63143	0.43457738	0.63051	0.3813112	0.63143	-9.633	0.71684	D	.	.	0.397	0.60878	A	.;.	.;.	2.355802	0.30207	18.37	0.97267771408444403	0.33121	0.62313	0.31743	D	AEFBI	0.159429	0.28523	N	0.0129430130106987	0.42442	2.557397	-0.175416654309203	0.32442	1.845819	0.0227358275250292	0.13453	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.93	2.93	0.33092	4.192000	0.58176	.	.	0.424000	0.20830	1.000000	0.71638	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	9.971	0.40927	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1480.27	45	chr19	21974042	.	T	C	1480.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.016;DP=649;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.16;MQRankSum=0.211;QD=5.94;ReadPosRankSum=0.466;SOR=0.72	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1620	5	0	1	1
chr19	22314172	22314172	C	G	exonic	ZNF729	.	nonsynonymous SNV	ZNF729:NM_001242680:exon4:c.C755G:p.T252S	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	.	0.00319489	0.0064	0	0.0009	0	0	0	0.0030	0.0216	0.0017335	268	154602	rs370723012	0.0010	0.0010	0.0006	0.0014	0.0155	0.0009	0.0009	0.0148	0.0146	0	2.564e-05	0	0	0	0.0002	5.477e-06	0.0011	0.0155	0.0006	0.0006	0.0003	0.0009	0.0178	0.0005	0.0005	0.0148	0.0137	9.626e-05	0	0	0	0	0	0	0	0	0.0178	.	.	.	0.464	0.12456	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.405	0.02972	N	1.3	0.35590	T	.	.	.	0.162	0.17002	-1.0085	0.27385	T	0.040	0.17234	T	6	0.0047943294	0.00101	T	.	.	.	.	.	.	.	0.0846915920261	0.08053	0.007743755641476406	0.00739	0.0305089366149	0.03155	0.310052752495	0.11915	T	0.005375	0.04821	T	-0.658626	0.00064	T	-0.705873	0.05510	T	0.0067528236684162	0.00076	T	0.147285	0.01216	T	0.03046829	0.02715	0.050854247	0.08067	0.03046829	0.02714	0.050854247	0.08066	-5.471	0.41596	T	.	.	0.101	0.17573	B	.	.	0.152330	0.05441	1.914	0.25056678380554304	0.01137	0.02122	0.06269	N	AEFBCI	0.029555	0.02811	N	-0.918723906899415	0.10404	0.4970345	-1.08274244213329	0.08040	0.3936002	1.64274840931023E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.01	1.01	0.19044	-1.178000	0.03203	.	.	0.376000	0.20365	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6906:0.0:0.3093	3.394	0.06875	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002596	0.000000	0.000000	0.003521	0.000000	0.000000	0.000000	0.015152	0.07143	299.83	35	chr19	22314172	.	C	G	299.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.308;DP=202;ExcessHet=0;FS=1.446;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=0.481;SOR=1.179	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	6	0	1	0
chr19	22316013	22316013	T	A	exonic	ZNF729	.	nonsynonymous SNV	ZNF729:NM_001242680:exon4:c.T2596A:p.S866T	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00101510959194	.	0.00139776	0.0025	0.0008	0.0016	0	0.0015	0.0031	0.0069	0.0030	0.0024385	377	154602	rs186174642	0.0027	0.0027	0.0026	0.0028	0.0056	0.0026	0.0026	0.0040	0.0035	0.0004	0.0015	0.0027	2.522e-05	0.0020	0.0056	0.0028	0.0024	0.0034	0.0023	0.0024	0.0023	0.0022	0.0037	0.0021	0.0020	0.0029	0.0028	0.0007	0	0.0019	0.0051	0	0.0012	0	0.0033	0.0043	0.0037	.	.	.	0.658	0.06554	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.94	0.23649	L	2.43	0.15261	T	.	.	.	0.081	0.05670	-0.9902	0.32551	T	0.011	0.04088	T	6	0.004257202	0.00085	T	0.001015	0.01096	T	.	.	.	.	0.0297737177859	0.01360	0.0033533708311257217	0.00313	0.00894687849592	0.00812	0.371445536613	0.21040	T	8.22E-4	0.00404	T	-0.768354	0.00013	T	-0.87551	0.00692	T	0.0103179011583856	0.00141	T	0.020398	0.00113	T	0.020460593	0.00606	0.050240524	0.07847	0.020460593	0.00606	0.050240524	0.07846	0.23	0.00277	T	.	.	0.129	0.27523	B	.	.	-1.723687	0.00185	0.003	0.065196831904340738	0.00025	0.00009	0.00143	N	AEFGBI	0.016562	0.00380	N	-2.75854756679435	0.00004	0.000171618	-2.93508059012259	0.00002	9.560346e-05	0.981033406160117	0.30209	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.996	-1.99	0.07047	-14.199000	0.00001	.	.	-4.314000	0.00033	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.3846:0.1743:0.2679:0.1733	0.577	0.00659	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004923	0.000000	0.004076	0.005376	0.000000	0.008621	0.000000	0.015267	0.07143	1840.44	35	chr19	22316013	.	T	A	1840.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.11;DP=411;ExcessHet=0;FS=0.515;MLEAC=1;MLEAF=0.071;MQ=59.76;MQRankSum=1.48;QD=8.93;ReadPosRankSum=1.48;SOR=0.642	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	6	0	1	0
chr19	22316198	22316198	G	C	exonic	ZNF729	.	nonsynonymous SNV	ZNF729:NM_001242680:exon4:c.G2781C:p.K927N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00293201306728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	6.583e-06	6.57e-06	0	1.348e-05	6.563e-05	0	0	.	.	0	0	6.563e-05	0	0	0	0	0	0	0	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1.395	0.35261	L	2.2	0.18570	T	.	.	.	0.171	0.18239	.	.	.	.	.	.	.	0.058258504	0.06822	T	0.002932	0.06221	T	.	.	.	.	0.0138822411134	0.00435	0.012044091657471518	0.01163	0.0352140113242	0.03713	0.32295113802	0.13868	T	0.004825	0.04238	T	-0.370496	0.03569	T	-0.769969	0.02769	T	.	.	.	0.543046	0.18512	T	0.035161365	0.04086	0.054079033	0.09233	0.035161365	0.04086	0.054079033	0.09232	-7.993	0.61023	D	.	.	0.388	0.58901	A	.	.	1.750578	0.22270	15.55	0.38611272525210538	0.02614	0.02894	0.07684	N	AEFBI	0.033022	0.03841	N	-1.1036911148093	0.06578	0.3031679	-1.26899197595645	0.04856	0.230057	1.11604009436937E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.36	0.00226	0.13372	-0.224000	0.09169	.	.	0.211000	0.17986	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1852:0.243:0.3268:0.245	0.534	0.00591	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	953.46	81	chr19	22316198	.	G	C	953.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.86;DP=404;ExcessHet=0;FS=4.261;MLEAC=1;MLEAF=0.071;MQ=56.41;MQRankSum=5.1;QD=11.77;ReadPosRankSum=-0.931;SOR=0.356	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	6	0	1	0
chr19	22391514	22391516	TAT	-	exonic	ZNF98	.	nonframeshift deletion	ZNF98:NM_001098626:exon4:c.1719_1721del:p.*573*	.	464	1055	2	1	0	4	0.00189215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00419329	0.0032	0	0	0	0	0	0	0.0477	0.0009221	24	26028	rs376917182	0.0011	0.0012	0.0006	0.0016	0.0193	0.0011	0.0011	0.0185	0.0182	0	2.932e-05	0	0	0	0.0004	6.482e-06	0.0012	0.0193	0.0007	0.0007	0.0004	0.0011	0.0226	0.0006	0.0006	0.0192	0.0179	9.623e-05	0	0	0	0	0	0	0	0	0.0226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	503.5	34	chr19	22391513	.	CTAT	C	503.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.236;DP=205;ExcessHet=0;FS=1.41;MLEAC=1;MLEAF=0.071;MQ=40.62;MQRankSum=-1.471;QD=15.26;ReadPosRankSum=-0.038;SOR=1.193	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1326	6	0	1	0
chr19	22392982	22392982	C	A	splicing	ZNF98	NM_001098626:exon4:c.254-1G>T	.	.	.	536	964	21	1	0	23	0.0117888	0.9999	0.514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0135	0.0109	0.0064	0.0323	0.0058	0.0148	0.0161	0.0052	3.84e-05	1	26028	rs753118485	0.0004	0.0076	0.0004	0.0005	0.0026	0.0004	0.0004	0.0015	0.0012	0.0004	0.0007	0.0003	0.0015	0.0016	0.0026	0.0003	0.0005	0.0008	0.0001	0.0034	0.0001	0.0001	0.0012	7.193e-05	5.931e-05	0.0005	0.0004	2.437e-05	0	0.0001	0.0003	0.0012	0	0	7.471e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999913	0.19599	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.480276	0.00736	T	-0.92766	0.00342	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.988562	0.25265	16.70	0.29246123047690514	0.01542	0.00230	0.01288	N	AEFBI	.	.	.	-0.12472375991063	0.36319	2.097657	-0.603631867293508	0.19399	1.040641	3.2191850307567E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0443366	0.03230	1.56	-3.12	0.04959	0.694000	0.25190	.	.	0.296000	0.18849	0.005000	0.17040	0.001000	0.17328	0.017000	0.10941	0.2997:0.4494:0.0:0.2509	2.015	0.03283	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	305.63	28	chr19	22392982	.	C	A	305.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.366;DP=189;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.14;MQRankSum=-1.376;QD=10.92;ReadPosRankSum=-1.167;SOR=0.399	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,108,1396:.	6	0	1	0
chr19	22857852	22857852	G	T	exonic	ZNF723	.	nonsynonymous SNV	ZNF723:NM_001349726:exon4:c.G961T:p.A321S	.	431	1085	6	0	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796134426	0	5.859e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11505282	0.21665	T	.	.	.	.	.	.	.	.	.	0.0011570423156071568	0.00106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0312969	0.00197	T	0.048392657	0.08426	0.13428065	0.32180	0.048392657	0.08425	0.13428065	0.32180	-6.967	0.53792	T	.	.	0.152	0.33687	B	.	.	1.055981	0.14373	10.95	0.46344815176862447	0.03705	0.00066	0.00474	N	AEFBHCI	.	.	.	.	.	.	.	.	.	1.46288502030522E-6	0.01202	0.053691	0.00478	0	0.063388	0.01293	0	0.063197	0.01477	0	0.062806	0.01542	0	0.0449823	0.04150	0.428	0.428	0.15714	-0.208000	0.09375	.	.	0.233000	0.18164	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.0:0.4049:0.5951	4.429	0.10944	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	155.44	38	chr19	22857852	.	G	T	155.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.171;DP=340;ExcessHet=0;FS=5.836;MLEAC=1;MLEAF=0.071;MQ=59.43;MQRankSum=-9.182;QD=1.01;ReadPosRankSum=2.09;SOR=1.239	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,14:154:99:0|1:22857852_G_T:166,0,5813:22857852	6	0	1	0
chr19	22857858	22857858	-	GG	exonic	ZNF723	.	frameshift insertion	ZNF723:NM_001349726:exon4:c.967_968insGG:p.N323Rfs*96	.	427	1090	5	0	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1333790266	0	5.843e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	143.41	38	chr19	22857858	.	A	AGG	143.41	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.645;DP=341;ExcessHet=0;FS=5.799;MLEAC=1;MLEAF=0.071;MQ=59.43;MQRankSum=-9.308;QD=0.91;ReadPosRankSum=2.98;SOR=1.252	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,14:158:99:0|1:22857852_G_T:154,0,5980:22857852	6	0	1	0
chr19	22857860	22857861	CC	-	exonic	ZNF723	.	frameshift deletion	ZNF723:NM_001349726:exon4:c.969_970del:p.N323Kfs*9	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341089980	0	5.843e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	140.41	38	chr19	22857859	.	ACC	A	140.41	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.551;DP=342;ExcessHet=0;FS=5.775;MLEAC=1;MLEAF=0.071;MQ=59.43;MQRankSum=-9.339;QD=0.88;ReadPosRankSum=3.61;SOR=1.258	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,14:159:99:0|1:22857852_G_T:151,0,6022:22857852	6	0	1	0
chr19	22857864	22857864	C	T	exonic	ZNF723	.	nonsynonymous SNV	ZNF723:NM_001349726:exon4:c.C973T:p.P325S	.	439	1077	6	0	0	6	0.00277778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796676925	1.644e-06	6.303e-05	0	3.248e-06	2.23e-06	2.7e-07	1e-07	3.7e-07	1.4e-07	0	0	0	0	0	0	2.23e-06	0	0	0.0001	0.0033	0.0001	0.0002	0.0005	9.603e-05	7.968e-05	9.568e-05	3.999e-05	9.546e-05	0	8.244e-05	0	0.0005	0.0007	0	0.0001	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09749955	0.17564	T	.	.	.	.	.	.	.	.	.	0.0014496354848490666	0.00133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0819918	0.00602	T	0.032428093	0.03267	0.07523396	0.16541	0.032428093	0.03267	0.07523396	0.16541	0.593	0.00194	T	.	.	0.218	0.44758	B	.	.	-0.948306	0.00848	0.029	0.097674670674040717	0.00107	0.00019	0.00214	N	AEFBHCI	.	.	.	.	.	.	.	.	.	1.61874606525676E-6	0.01202	0.053691	0.00478	0	0.063388	0.01293	0	0.063197	0.01477	0	0.062806	0.01542	0	0.0449823	0.04150	0.428	-0.855	0.10158	-0.468000	0.06733	.	.	-2.334000	0.00313	0.000000	0.06391	0.072000	0.22236	0.000000	0.00833	0.2452:0.2368:0.0:0.518	2.236	0.03761	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	140.45	38	chr19	22857864	.	C	T	140.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.817;DP=342;ExcessHet=0;FS=5.811;MLEAC=1;MLEAF=0.071;MQ=59.43;MQRankSum=-9.339;QD=0.88;ReadPosRankSum=4.22;SOR=1.247	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,14:159:99:0|1:22857852_G_T:151,0,6046:22857852	6	0	1	0
chr19	22857879	22857879	A	G	exonic	ZNF723	.	nonsynonymous SNV	ZNF723:NM_001349726:exon4:c.A988G:p.T330A	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796901204	0	5.777e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106212884	0.19672	T	.	.	.	.	.	.	.	.	.	0.0011354493335686896	0.00104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130287	0.01023	T	0.0445498	0.07139	0.07092379	0.15127	0.0445498	0.07139	0.07092379	0.15126	-6.748	0.52171	T	.	.	0.096	0.15341	B	.	.	0.474704	0.08445	5.200	0.32050259991320668	0.01837	0.00060	0.00440	N	AEFBHCI	.	.	.	.	.	.	.	.	.	1.17369499889849E-6	0.01202	0.053691	0.00478	0	0.063388	0.01293	0	0.063197	0.01477	0	0.062806	0.01542	0	0.0449823	0.04150	0.428	0.428	0.15714	-1.949000	0.01622	.	.	-2.082000	0.00402	0.000000	0.06391	0.002000	0.18203	0.000000	0.00833	0.4225:0.0:0.5775:0.0	3.661	0.07775	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	122.44	38	chr19	22857879	.	A	G	122.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.436;DP=350;ExcessHet=0;FS=5.812;MLEAC=1;MLEAF=0.071;MQ=59.45;MQRankSum=-9.524;QD=0.74;ReadPosRankSum=4.5;SOR=1.239	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,14:165:99:0|1:22857852_G_T:133,0,6298:22857852	6	0	1	0
chr19	22857910	22857910	T	C	exonic	ZNF723	.	nonsynonymous SNV	ZNF723:NM_001349726:exon4:c.T1019C:p.L340P	.	445	1071	6	0	0	6	0.0027933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015752	41	26028	rs767929204	4.672e-06	2.711e-05	6.28e-06	3.09e-06	6.3e-06	1.68e-06	1.1e-06	2.27e-06	1.49e-06	0	0	0	0	0	0	6.3e-06	0	0	0.0004	0.0012	0.0005	0.0004	0.0011	0.0003	0.0003	0.0004	0.0003	0.0004	0	0.0007	0.0004	0.0008	0	0.0069	0.0003	0.0013	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.10624209	0.19677	T	.	.	.	.	.	.	.	.	.	0.0014453664641654411	0.00133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0222478	0.00126	T	0.08294697	0.19132	0.15761347	0.36846	0.08294697	0.19132	0.15761347	0.36845	1.069	0.00123	T	.	.	0.039	0.00011	B	.	.	-0.019318	0.04151	0.994	0.46309357350867114	0.03700	0.00006	0.00120	N	AEFBHCI	.	.	.	.	.	.	.	.	.	1.84147049042891E-6	0.01202	0.053691	0.00478	0	0.063388	0.01293	0	0.063197	0.01477	0	0.062806	0.01542	0	0.0851642	0.19377	0.428	-0.855	0.10158	1.176000	0.31566	.	.	-0.915000	0.02235	0.157000	0.23755	0.000000	0.08366	0.007000	0.07825	0.0:0.4184:0.0:0.5816	5.046	0.13825	988	0.01987	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	119.44	38	chr19	22857910	.	T	C	119.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.513;DP=352;ExcessHet=0;FS=5.59;MLEAC=1;MLEAF=0.071;MQ=59.47;MQRankSum=-10.12;QD=0.72;ReadPosRankSum=-0.318;SOR=1.29	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,14:166:99:0|1:22857852_G_T:130,0,6340:22857852	6	0	1	0
chr19	22857915	22857915	A	C	exonic	ZNF723	.	nonsynonymous SNV	ZNF723:NM_001349726:exon4:c.A1024C:p.K342Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1189533116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11437926	0.21517	T	.	.	.	.	.	.	.	.	.	0.0011378730356342316	0.00104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0378962	0.00263	T	0.112948045	0.26679	0.15756989	0.36837	0.112948045	0.26679	0.15756989	0.36836	-7.222	0.55639	T	.	.	0.167	0.36712	B	.	.	2.541903	0.32887	19.18	0.57016680489115801	0.05677	0.00075	0.00520	N	AEFBHCI	.	.	.	.	.	.	.	.	.	1.54865529999369E-6	0.01202	0.053691	0.00478	0	0.063388	0.01293	0	0.063197	0.01477	0	0.062806	0.01542	0	0.0851642	0.19377	0.428	-0.855	0.10158	-0.216000	0.09271	.	.	0.259000	0.18387	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.5252:0.0:0.2157:0.259	2.007	0.03267	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	116.44	38	chr19	22857915	.	A	C	116.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.422;DP=353;ExcessHet=0;FS=5.628;MLEAC=1;MLEAF=0.071;MQ=59.47;MQRankSum=-10.15;QD=0.7;ReadPosRankSum=-1.247;SOR=1.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,14:167:99:0|1:22857852_G_T:127,0,6382:22857852	6	0	1	0
chr19	22976595	22976595	C	T	exonic	ZNF728	.	nonsynonymous SNV	ZNF728:NM_001267716:exon4:c.G742A:p.V248I	.	418	1088	16	0	0	16	0.00729927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00638978	0.0095	0.0006	0.0040	0.0006	0.0286	0.0083	0.0136	0.0196	0.0083569	1292	154602	rs144080172	0.0083	0.0083	0.0079	0.0086	0.0184	0.0081	0.0081	0.0176	0.0173	0.0012	0.0032	0.0048	0.0007	0.0247	0.0024	0.0076	0.0072	0.0184	0.0071	0.0070	0.0056	0.0087	0.0212	0.0067	0.0066	0.0178	0.0166	0.0011	0	0.0051	0.0041	0.0006	0.0332	0.0037	0.0070	0.0039	0.0212	.	.	.	0.473	0.12142	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.10161	N	2.3	0.16953	T	.	.	.	0.036	0.01068	.	.	.	.	.	.	.	0.004285425	0.00086	T	.	.	.	.	.	.	.	0.0401082797425	0.02173	0.0031814532368857817	0.00297	0.0224550323184	0.02262	0.225423663855	0.01647	T	0.001299	0.00775	T	-0.767209	0.00013	T	-0.859882	0.00844	T	.	.	.	0.168083	0.01566	T	0.013797643	0.00070	0.031487882	0.01744	0.013797643	0.00070	0.031487882	0.01744	-4.486	0.30705	T	.	.	0.080	0.07554	B	.	.	-0.321829	0.02522	0.300	0.40345600745476201	0.02841	0.00004	0.00092	N	AEFBHCI	0.013671	0.00190	N	.	.	.	.	.	.	2.29534227667703E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.945	-1.69	0.07747	-1.672000	0.02054	.	.	-0.751000	0.03586	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.419:0.0:0.581	5.127	0.14220	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1275.44	93	chr19	22976595	.	C	T	1275.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.804;DP=308;ExcessHet=0;FS=0.779;MLEAC=1;MLEAF=0.071;MQ=59.93;MQRankSum=1.15;QD=13.71;ReadPosRankSum=-0.077;SOR=0.728	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1056	6	0	1	0
chr19	23146170	23146170	G	A	exonic	ZNF730	.	nonsynonymous SNV	ZNF730:NM_001277403:exon4:c.G1126A:p.A376T	.	437	1083	2	0	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.000686370402962	.	.	1.892e-05	0	0	0	0	3.461e-05	0	0	1.29e-05	2	154602	rs767593585	1.236e-05	1.231e-05	1.366e-05	1.105e-05	0.0005	7.73e-06	6.38e-06	0.0001	7.583e-05	0	6.82e-05	0	0	0	0.0005	9.018e-06	3.325e-05	0	2.63e-05	2.626e-05	5.147e-05	0	0.0002	8.15e-06	5.14e-06	.	.	0	0	0	0	0	0	0.0069	1.471e-05	0	0.0002	.	.	.	0.117	0.36365	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.58	0.15352	N	1.27	0.36146	T	.	.	.	0.035	0.01004	-1.0278	0.21168	T	0.056	0.23527	T	6	0.038039505	0.02195	T	6.86E-4	0.00400	T	.	.	.	.	0.0551355673512	0.04727	0.004433680942703325	0.00417	0.0545909350713	0.06044	0.291648238897	0.09162	T	0.063486	0.32189	T	-0.486374	0.00680	T	-0.737425	0.04000	T	0.0394669703331219	0.03594	T	0.039696	0.00274	T	0.07233329	0.16083	0.105167314	0.25275	0.07233329	0.16082	0.105167314	0.25274	-6.233	0.48189	T	.	.	0.096	0.15475	B	.	.	-0.072036	0.03811	0.810	0.88051802433803961	0.17680	0.00368	0.01876	N	AEFBHCI	0.025303	0.01711	N	-1.31019338897254	0.03558	0.1591341	-1.53049424331613	0.02113	0.09670465	1.2346284982333E-5	0.02871	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	0.876	-1.75	0.07598	-2.241000	0.01279	.	.	-0.696000	0.04083	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1908:0.0:0.5703:0.2389	3.163	0.06137	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	902.49	40	chr19	23146170	.	G	A	902.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.325;DP=274;ExcessHet=0;FS=3.209;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-1.354;SOR=1.109	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485:.	6	0	1	0
chr19	24107223	24107223	T	A	exonic	ZNF254	.	nonsynonymous SNV	ZNF254:NM_001278665:exon4:c.T261A:p.D87E	.	662	852	7	1	0	9	0.00525394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	.	0.00559105	0.0017	0.0145	0.0054	0	0	0.0027	0	0.0003	0.0006468	100	154602	rs188355350	0.0018	0.0017	0.0020	0.0017	0.0186	0.0017	0.0017	0.0152	0.0139	0.0142	0.0041	0.0027	3.526e-05	0.0002	0.0186	0.0011	0.0055	0.0004	0.0059	0.0059	0.0059	0.0059	0.0161	0.0056	0.0055	0.0151	0.0147	0.0161	0	0.0079	0.0026	0	9.43e-05	0.0238	0.0011	0.0099	0	0.341	0.12673	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.71	0.00734	T	-0.35	0.12847	N	0.068	0.04072	-0.9322	0.43814	T	0.001	0.00318	T	5	0.0050144494	0.00108	T	.	.	.	0.004	0.00165	0.284	0.24121	0.0297737177859	0.01360	.	.	.	.	.	.	.	.	.	.	-0.753571	0.00017	T	-0.840949	0.01084	T	0.00129587996378418	0.00013	T	0.0860914	0.00631	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.23709	B	.	.	0.127209	0.05237	1.740	0.23749199529728601	0.01018	0.00244	0.01352	N	AEFGBI	0.028521	0.02526	N	-1.09361375042721	0.06760	0.3121246	-1.33538028191876	0.03981	0.1868411	3.6552778696993E-4	0.06707	0.732398	0.92422	0	0.743671	0.97443	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	0.418	-0.835	0.10230	-0.615000	0.05693	.	.	-0.565000	0.04808	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	240.46	23	chr19	24107223	.	T	A	240.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.897;DP=200;ExcessHet=0;FS=3.834;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=-0.154;SOR=1.139	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1088	6	0	1	0
chr19	29213036	29213036	G	A	exonic	UQCRFS1	.	nonsynonymous SNV	UQCRFS1:NM_006003:exon1:c.C83T:p.P28L	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.742542390417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.785e-07	2.736e-06	0	1.588e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.875e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.007	0.69154	D	0.77	0.43887	P	0.34	0.42389	B	0.001572	0.38612	N	0.260619	0.999997	0.58761	D	1.935	0.51832	L	0.31	0.58613	T	-3.86	0.72471	D	0.289	0.32701	-0.6481	0.62797	T	0.188	0.53930	T	10	0.52915907	0.63084	D	0.742542	0.97939	D	0.220	0.51569	0.597	0.72739	0.446847512676	0.44307	0.6039704013097025	0.60328	1.81185159454	0.91812	0.799962222576	0.81957	T	0.411462	0.76590	T	-0.0140345	0.49700	T	-0.257936	0.49030	T	0.985832214355469	0.76713	D	0.720328	0.33319	T	0.43345115	0.62978	0.5042543	0.71344	0.43345115	0.62978	0.5042543	0.71345	-5.828	0.44818	T	.	.	0.185	0.40081	B	.	.	4.211244	0.63621	24.6	0.99203816685662538	0.55351	0.88852	0.48983	D	AEFGBHCI	0.654494	0.62716	D	0.129003172920935	0.47819	3.002399	0.127535329363022	0.45963	2.850272	0.999999999999997	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.600757	0.32118	0	0.581474	0.35302	0	.	.	3.88	3.88	0.43959	4.141000	0.57803	8.754000	0.78223	0.448000	0.21234	1.000000	0.71638	1.000000	0.68203	0.453000	0.27962	0.0:0.0:1.0:0.0	14.553	0.67671	986	0.02773	Ubiquinol-cytochrome c reductase 8kDa, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	136.83	17	chr19	29213036	.	G	A	136.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.54;DP=121;ExcessHet=0;FS=1.957;MLEAC=1;MLEAF=0.071;MQ=53.08;MQRankSum=-0.685;QD=8.05;ReadPosRankSum=0.801;SOR=0.283	GT:AD:DP:GQ:PL	0/0:22,0:22:63:0,63,719	6	0	1	0
chr19	29615357	29615357	G	A	exonic	POP4	.	nonsynonymous SNV	POP4:NM_006627:exon7:c.G640A:p.A214T	.	440	1060	21	1	0	23	0.0107326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0003	0.00259585	0.0014	0	0	0.0001	0	0.0004	0.0011	0.0088	0.001216	188	154602	rs143408535	0.0007	0.0007	0.0005	0.0010	0.0084	0.0007	0.0007	0.0078	0.0076	8.966e-05	0.0003	0	2.519e-05	1.873e-05	0.0082	0.0002	0.0011	0.0084	0.0006	0.0006	0.0004	0.0008	0.0106	0.0005	0.0005	0.0083	0.0075	9.639e-05	0	0.0003	0	0	0	0.0034	0.0004	0.0009	0.0106	.	.	.	0.477	0.12002	T	0.026	0.19406	B	0.005	0.11217	B	0.002919	0.35737	N	0.263220	0.833686	0.34957	D	1.405	0.35469	L	.	.	.	.	.	.	0.153	0.15749	-0.9484	0.41245	T	0.100	0.37060	T	9	0.008238256	0.00187	T	.	.	.	0.043	0.11576	.	.	0.252681307341	0.24864	0.5415715994778354	0.54082	0.135333160599	0.15256	0.398498415947	0.24859	T	0.026685	0.19696	T	-0.330749	0.06056	T	-0.241902	0.50613	T	0.0165160433832631	0.00415	T	0.851715	0.65300	D	0.1541593	0.34907	0.14179023	0.33753	0.1541593	0.34907	0.14179023	0.33752	-6.096	0.47076	T	.	.	0.103	0.18539	B	.;.	.;.	3.573730	0.50344	22.9	0.9962703304120808	0.75776	0.96603	0.69970	D	AEFDGBI	0.729455	0.67715	D	0.0184870462538853	0.42695	2.57744	0.236341159294988	0.51876	3.366491	0.999999923925911	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	3.977000	0.56581	8.551000	0.77529	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.831000	0.39176	0.0:0.0:0.8513:0.1487	15.248	0.73212	948	0.11499	Ribonuclease P/MRP, subunit p29;Ribonuclease P/MRP, subunit p29	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.004076	0.000000	0.000000	0.008621	0.003049	0.007576	0.07143	357.49	38	chr19	29615357	.	G	A	357.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.685;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.51;ReadPosRankSum=0.781;SOR=0.709	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1222	6	0	1	0
chr19	29942634	29942634	T	A	exonic	URI1	.	nonsynonymous SNV	URI1:NM_003796:exon1:c.T87A:p.D29E	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.134331333968	.	.	1.814e-05	0	0	0	0	3.141e-05	0	0	6.5e-06	1	154602	rs12984378	3.321e-05	3.283e-05	3.063e-05	3.584e-05	0.0017	2.502e-05	2.224e-05	0.0008	0.0006	0	0	0	0	0	0.0017	3.197e-05	5.762e-05	0	3.317e-05	3.292e-05	2.593e-05	4.075e-05	5.916e-05	1.27e-05	8.05e-06	1.98e-05	1.13e-05	2.435e-05	0	0	0	0	0	0	5.916e-05	0	0	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	0	0.06538	N	.	.	.	.	.	.	0.071	0.04426	-1.1016	0.03903	T	0.063	0.26136	T	9	0.0936493	0.16590	T	0.134331	0.81676	D	.	.	0.141	0.04462	0.403752378121	0.39992	0.23545020665227448	0.23460	.	.	0.828463613987	0.86327	D	0.008122	0.07471	T	-0.229561	0.16708	T	-0.470671	0.25444	T	0.0388106361156018	0.03477	T	0.29797	0.05545	T	0.028042363	0.02083	0.033694703	0.02308	0.028042363	0.02083	0.033694703	0.02308	-2.499	0.05774	T	.	.	0.085	0.10062	B	.	.	1.357353	0.17655	13.29	0.91750377529962956	0.21049	0.46956	0.27875	N	ALL	0.069139	0.13670	N	-0.848536985470292	0.12086	0.587006	-0.730922873378169	0.16193	0.855406	0.999999999956758	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.372554	0.06265	0	.	.	3.32	-0.639	0.10920	0.677000	0.24942	5.355000	0.48384	-1.584000	0.00915	1.000000	0.71638	1.000000	0.68203	0.086000	0.17578	0.0:0.2078:0.3866:0.4056	5.240	0.14787	969	0.06854	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002548	0.010526	0.001359	0.005952	0.000000	0.000000	0.000000	0.000000	0.07143	293.63	27	chr19	29942634	.	T	A	293.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.346;DP=162;ExcessHet=0;FS=3.892;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=1.28;SOR=1.555	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1013	6	0	1	0
chr19	30007545	30007545	A	G	exonic	URI1	.	nonsynonymous SNV	URI1:NM_001252641:exon7:c.A539G:p.D180G,URI1:NM_003796:exon7:c.A593G:p.D198G	.	426	1068	27	1	0	29	0.0133949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00831901563935	0.0015	0.00179712	0.0028	0.0002	0.0003	0.0001	0	0.0027	0.0044	0.0087	0.0024773	383	154602	rs35808349	0.0016	0.0016	0.0013	0.0019	0.0088	0.0016	0.0015	0.0083	0.0081	0.0002	0.0005	0.0370	2.521e-05	0	0.0052	0.0003	0.0035	0.0088	0.0015	0.0015	0.0015	0.0015	0.0085	0.0013	0.0013	0.0064	0.0057	0.0001	0	0.0008	0.0366	0	0	0	0.0005	0.0024	0.0085	.	.	.	0.152	0.48080	T	0.001	0.07471	B	0.001	0.04355	B	0.506522	0.11890	N	0.815272	0.997412	0.22668	N	-0.11	0.04642	N	2.87	0.10386	T	.	.	.	0.127	0.17002	-0.9333	0.43650	T	0.015	0.05849	T	10	0.0029184222	0.00130	T	0.008319	0.22029	T	0.036	0.09122	.	.	0.19670166235	0.19296	0.1806272777807416	0.17981	.	.	0.3522772789	0.18257	T	0.018062	0.14625	T	-0.548704	0.00297	T	-0.55512	0.16839	T	0.000493352226057953	0.00004	T	0.662834	0.37546	T	0.03990745	0.05599	0.032111034	0.01896	0.03990745	0.05598	0.032111034	0.01896	-4.169	0.26954	T	.	.	0.077	0.06525	B	.;.;.	.;.;.	1.201174	0.15936	12.20	0.86444548530996701	0.16540	0.32829	0.24681	N	AEFGBI	0.208275	0.33437	N	-0.943709659497948	0.09835	0.4672198	-0.91507801104641	0.11738	0.5998493	0.436649672931487	0.20418	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.6	0.906	0.18444	1.155000	0.31311	1.839000	0.29174	0.749000	0.86810	0.650000	0.28172	0.406000	0.24735	0.272000	0.23818	0.53:0.2688:0.0723:0.129	3.248	0.06402	960	0.08626	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.001359	0.000000	0.100000	0.000000	0.009146	0.015152	0.08333	455.27	40	chr19	30007545	.	A	G	455.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.115;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=1.11;SOR=0.668	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1077	5	0	1	1
chr19	32802763	32802763	A	G	exonic	TDRD12	.	nonsynonymous SNV	TDRD12:NM_001366102:exon20:c.A2305G:p.M769V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0249554203781	.	0.00119808	0.0005	0.0095	0	0	0	0	0	0	0.0001229	19	154602	rs141527141	0.0001	0.0001	0.0001	0.0001	0.0038	0.0001	0.0001	0.0033	0.0031	0.0038	0.0004	0	0	0	0.0002	2.224e-05	0.0004	2.524e-05	0.0013	0.0013	0.0013	0.0014	0.0046	0.0012	0.0011	0.0040	0.0038	0.0046	0	0.0006	0	0	0	0	1.47e-05	0.0005	0	0.118	0.28148	T	0.0	0.92824	D	0.951	0.53992	P	0.543	0.48966	P	0.000036	0.55875	D	0.000000	0.906009	0.36289	D	1.905	0.50856	L	1.91	0.23283	T	-1.09	0.28290	N	0.612	0.62866	-1.1178	0.02476	T	0.044	0.19111	T	9	0.008848339	0.00200	T	0.024955	0.47943	T	0.136	0.36778	.	.	0.0666544352282	0.05500	.	.	.	.	0.525491476059	0.42400	T	8.75E-4	0.00441	T	-0.290515	0.09585	T	-0.188439	0.55736	T	0.0485324836412298	0.05239	T	0.723828	0.34191	T	0.15726368	0.35444	0.2054906	0.44721	0.15726368	0.35444	0.2054906	0.44720	-11.307	0.81315	D	.	.	0.328	0.57034	B	.;.	.;.	3.590721	0.50670	23.0	0.96365678669620369	0.29567	0.89279	0.49648	D	AEFGBCI	0.642616	0.61953	D	0.381608052149067	0.60426	4.23134	0.442579772773979	0.64242	4.67491	0.987260602903731	0.31224	0.553676	0.25195	0	0.547309	0.14657	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.97	5.97	0.96935	4.098000	0.57478	9.338000	0.80191	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.8663:0.0:0.0:0.1337	11.518	0.49787	687	0.59234	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	46.44	33	chr19	32802763	.	A	G	46.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.383;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.16;ReadPosRankSum=0.241;SOR=0.593	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1281	6	0	1	0
chr19	32915374	32915374	C	T	exonic	CEP89	.	nonsynonymous SNV	CEP89:NM_032816:exon14:c.G1528A:p.V510M	.	.	.	.	.	.	.	.	.	.	.	3846014	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.257	0.0304065436556	.	.	8.238e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs778868993	1.234e-05	1.231e-05	9.547e-06	1.516e-05	0.0007	7.71e-06	6.36e-06	0.0002	0.0001	6.011e-05	0	0	0	0	0.0007	6.3e-06	3.317e-05	3.525e-05	6.578e-06	6.568e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.577	0.06049	T	0.158	0.31629	T	0.006	0.13644	B	0.011	0.15521	B	0.638806	0.05855	N	1.138180	1	0.08975	N	-0.295	0.03650	N	-2.29	0.87591	D	-0.3	0.11913	N	0.078	0.05287	-0.7848	0.56031	T	0.301	0.67251	T	10	0.025174588	0.00719	T	0.030407	0.52725	D	0.257	0.56827	0.088	0.00943	0.139678290688	0.13603	0.04053571472343645	0.03999	0.10221570197	0.11571	0.269534349442	0.06081	T	0.00226	0.01662	T	-0.301458	0.08523	T	-0.567856	0.15647	T	0.0216368679555334	0.00868	T	0.611839	0.23263	T	0.018807106	0.00404	0.047232952	0.06758	0.018807106	0.00403	0.047232952	0.06758	-5.87	0.45178	T	.	.	0.070	0.03336	B	.	.	-1.059619	0.00690	0.020	0.35481840134624903	0.02229	0.00565	0.02569	N	AEFDBI	0.020201	0.00774	N	-2.0398116802589	0.00173	0.007430887	-2.09116690175106	0.00195	0.008573012	0.999813584886714	0.43459	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.6	-9.97	0.00363	-1.466000	0.02461	-7.473000	0.01149	-1.007000	0.01781	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.0:0.5988:0.2691:0.1321	14.805	0.69572	354	0.85282	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	802.49	38	chr19	32915374	.	C	T	802.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.856;DP=298;ExcessHet=0;FS=3.564;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.92;ReadPosRankSum=0.764;SOR=0.437	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1026	6	0	1	0
chr19	32999679	32999679	G	A	exonic	RHPN2	.	stopgain	RHPN2:NM_033103:exon10:c.C1132T:p.Q378X	.	392	647	479	4	0	487	0.273442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2531	0.3917	0.1262	0.2590	0.2378	0.2220	0.2567	0.3809	0.0003842	10	26028	rs78615454	1.45e-05	0.0007	1.512e-05	1.387e-05	0.0011	9.32e-06	7.91e-06	0.0005	0.0003	0	2.247e-05	0	0	0	0.0011	9.078e-07	0	0.0002	0	1.97e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.295	0.33360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195965	0.73516	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.996723	0.99494	44	0.99829210797084544	0.91112	0.99069	0.90771	D	AEFDBI	0.292062	0.40303	N	1.04336661485944	0.96932	15.344	0.880771434466692	0.94678	12.953	0.999999999954891	0.74766	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	4.72	4.72	0.59248	9.105000	0.93598	11.713000	0.94685	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:1.0:0.0	17.685	0.88159	819	0.41190	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.282981	0.237374	0.312500	0.260234	0.250000	0.301724	0.234756	0.329545	0.25	769.34	158	chr19	32999679	.	G	A	769.34	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.574;DP=1011;ExcessHet=1.383;FS=2.539;MLEAC=3;MLEAF=0.25;MQ=54.18;MQRankSum=-3.924;QD=1.68;ReadPosRankSum=1.92;SOR=0.584	GT:AD:DP:GQ:PL	0/0:237,0:237:99:0,120,1800	3	0	3	1
chr19	33094237	33094237	G	T	exonic	GPATCH1	.	nonsynonymous SNV	GPATCH1:NM_018025:exon5:c.G521T:p.R174L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.539	0.0400329129033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.375e-06	2.052e-06	0	2.761e-06	1.809e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.809e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.185	0.88900	M	1.5	0.31205	T	-6.3	0.90771	D	0.841	0.83678	-0.7672	0.57011	T	0.208	0.56758	T	10	0.8391466	0.83068	D	0.040033	0.59150	D	0.539	0.80723	0.371	0.38176	0.615755702487	0.61265	0.8581399606969168	0.85776	0.642122485459	0.57789	0.731068849564	0.71662	T	0.151856	0.49198	T	0.202687	0.74142	D	0.0533697	0.73805	D	0.997791647911072	0.92438	D	0.954705	0.82752	D	0.75036377	0.80889	0.7126963	0.83048	0.75036377	0.80891	0.7126963	0.83049	-15.354	0.96627	D	.	.	0.788	0.76714	P	.	.	5.581296	0.92305	32	0.99861411522197319	0.94002	0.99110	0.91373	D	AEFBI	0.858012	0.77546	D	0.830471393102821	0.87968	9.405967	0.810619727389434	0.90523	10.44583	0.999999999993599	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.46	5.46	0.80021	8.431000	0.90152	8.540000	0.77489	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.315	0.90157	671	0.60868	G-patch domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	699.53	28	chr19	33094237	.	G	T	699.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.473;DP=220;ExcessHet=0;FS=0.923;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=0.835;SOR=0.653	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1235	6	0	1	0
chr19	34378981	34378981	G	T	exonic	GPI	.	nonsynonymous SNV	GPI:NM_001289790:exon6:c.G597T:p.E199D,GPI:NM_000175:exon7:c.G681T:p.E227D,GPI:NM_001184722:exon7:c.G714T:p.E238D,GPI:NM_001329911:exon7:c.G681T:p.E227D,GPI:NM_001289789:exon8:c.G798T:p.E266D,GPI:NM_001329909:exon8:c.G681T:p.E227D,GPI:NM_001329910:exon8:c.G681T:p.E227D	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	3061799	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.272	0.0458389243259	.	0.000798722	0.0003	0	0	0	0	0	0	0.0023	0.0002717	42	154602	rs573256848	0.0001	0.0001	8.712e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0.0002	0	0.0002	0.0023	9.188e-05	9.185e-05	3.853e-05	0.0001	0.0029	5.521e-05	4.36e-05	0.0018	0.0014	0	0	0	0	0	0	0	0	0	0.0029	0.224	0.18691	T	0.871	0.03305	T	0.0	0.02946	B	0.0	0.01387	B	0.000001	0.84330	N	0.094208	0.999963	0.52935	D	0.525	0.13617	N	-3.26	0.93587	D	-1.46	0.35792	N	0.339	0.38027	-0.5176	0.68004	T	0.518	0.81951	D	10	0.023552418	0.00620	T	0.045839	0.62172	D	0.272	0.58758	0.431	0.48007	0.906226153437	0.90528	0.7404080131666513	0.73985	0.411041639006	0.41868	0.64079284668	0.58676	T	0.740687	0.92815	D	-0.344583	0.05077	T	-0.27453	0.47362	T	0.0208929638268118	0.00790	T	0.883212	0.62952	D	0.37402704	0.58881	0.09927936	0.23698	0.37402704	0.58881	0.09927936	0.23697	-6.006	0.46330	T	0.1037295922932382	0.08033	0.104	0.29116	B	.;.;.;.;.	.;.;.;.;.	1.507635	0.19370	14.23	0.98303602505200127	0.40068	0.86783	0.46139	D	AEFGBHCI	0.704317	0.66007	D	-0.605095138798471	0.18791	0.9783838	-0.442399737967929	0.23765	1.297735	0.0124388736193344	0.12327	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.93	0.124	0.14016	0.506000	0.22367	0.024000	0.13633	0.676000	0.76740	0.999000	0.42656	0.473000	0.25062	0.799000	0.37691	0.3427:0.1358:0.5215:0.0	5.779	0.17562	932	0.16191	Phosphoglucose isomerase, SIS domain 1;.;Phosphoglucose isomerase, SIS domain 1;.;Phosphoglucose isomerase, SIS domain 1	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	2373.53	33	chr19	34378981	.	G	T	2373.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.03;DP=364;ExcessHet=0;FS=0.541;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=0.056;SOR=0.623	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1343	6	0	1	0
chr19	34944009	34944009	A	G	exonic	ZNF30	.	nonsynonymous SNV	ZNF30:NM_001099437:exon5:c.A1046G:p.E349G,ZNF30:NM_001099438:exon5:c.A1046G:p.E349G,ZNF30:NM_194325:exon5:c.A1043G:p.E348G	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0019303063026	.	.	8.257e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs781073343	2.736e-06	2.736e-06	1.361e-06	4.125e-06	0.0003	6.4e-07	4.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.001	0.83351	D	0.974	0.57829	D	0.691	0.53831	P	.	.	.	.	0.999749	0.20516	N	1.825	0.47900	L	2.19	0.18724	T	-5.18	0.83557	D	0.157	0.16586	-1.0763	0.08083	T	0.069	0.28113	T	9	0.18044981	0.33230	T	0.00193	0.03430	T	0.019	0.03383	0.506	0.60078	0.494568219684	0.49091	0.024335937995972414	0.02384	0.231264525672	0.25667	0.331524670124	0.15165	T	0.09148	0.38803	T	-0.260985	0.12786	T	-0.515809	0.20720	T	0.9616659283638	0.66146	D	0.10159	0.00756	T	0.42908704	0.62693	0.6374821	0.78830	0.42908704	0.62693	0.6374821	0.78831	-8.051	0.61417	D	.	.	0.298	0.53800	B	.;.;.	.;.;.	3.757582	0.53892	23.4	0.99700079157994748	0.80591	0.11474	0.16658	N	AEFDGBHCI	0.106437	0.21236	N	-0.321203082286082	0.28344	1.562576	-0.516497716440736	0.21705	1.175441	0.18325233202031	0.17900	0.460665	0.09802	0	0.588066	0.40923	0	0.575934	0.27490	0	0.636168	0.56350	0	.	.	2.23	2.23	0.27189	0.092000	0.14905	0.036000	0.13800	0.592000	0.32167	0.000000	0.06391	0.000000	0.08366	0.885000	0.42453	1.0:0.0:0.0:0.0	8.004	0.29476	302	0.87871	.;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	3672.32	115	chr19	34944009	.	A	G	3672.32	.	AC=2;AF=0.143;AN=14;DP=354;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=31.93;SOR=0.859	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	6	1	0	0
chr19	35060670	35060670	G	A	exonic	HPN	.	nonsynonymous SNV	HPN:NM_001375441:exon9:c.G664A:p.V222M,HPN:NM_001384133:exon9:c.G664A:p.V222M,HPN:NM_182983:exon9:c.G664A:p.V222M,HPN:NM_002151:exon10:c.G664A:p.V222M	.	.	.	.	.	.	.	.	.	.	.	3263539	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.533	0.251046148716	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs141619716	8.551e-05	8.551e-05	0.0001	7.013e-05	0.0001	7.312e-05	6.816e-05	8.763e-05	8.211e-05	5.974e-05	0	0	0	0	0	0.0001	0.0001	1.159e-05	5.255e-05	5.253e-05	5.136e-05	5.378e-05	0.0001	2.556e-05	1.829e-05	4.764e-05	3.338e-05	2.411e-05	0	0	0	0	0	0	0.0001	0	0	0.002	0.72154	D	0.006	0.70582	D	0.997	0.70673	D	0.809	0.58564	P	0.000071	0.52346	D	0.128037	0.998416	0.81001	D	1.07	0.27075	L	-2.5	0.89363	D	-1.9	0.44284	N	0.438	0.47765	0.544	0.91157	D	0.715	0.90207	D	10	0.5687434	0.65198	D	0.251046	0.89116	D	0.533	0.80367	0.6	0.73105	0.671196538207	0.66841	0.6345075049796749	0.63384	1.15372453973	0.79304	0.720341682434	0.70096	T	0.572973	0.85892	D	0.0266502	0.55277	T	-0.0918382	0.64024	T	0.700815320014954	0.40757	D	0.89551	0.67067	D	0.41751188	0.61926	0.28276265	0.54265	0.41751188	0.61926	0.28276265	0.54264	-9.434	0.70448	D	.	.	0.304	0.53316	B	.;.;.	.;.;.	5.181616	0.86881	29.1	0.99886905545240634	0.96204	0.62344	0.31753	D	AEFBCI	0.861310	0.77935	D	0.452027269148236	0.64316	4.683618	0.431447791497915	0.63533	4.589066	0.0217540831200535	0.13375	0.634777	0.41761	0	0.59043	0.45803	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	4.87	4.87	0.62877	3.536000	0.53338	11.740000	0.95175	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.712000	0.34516	0.0:0.0:1.0:0.0	15.54	0.75773	900	0.24599	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1092.45	36	chr19	35060670	.	G	A	1092.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.643;DP=304;ExcessHet=0;FS=7.686;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=1.06;SOR=0.517	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr19	35299590	35299590	C	T	exonic	MAG	.	nonsynonymous SNV	MAG:NM_001199216:exon5:c.C377T:p.A126V,MAG:NM_002361:exon5:c.C452T:p.A151V,MAG:NM_080600:exon5:c.C452T:p.A151V	Spastic paraplegia 75, autosomal recessive, Autosomal recessive	424	1080	18	0	0	18	0.00826446	.	.	.	411594	Hereditary_spastic_paraplegia_75|Hereditary_spastic_paraplegia|not_provided|MAG-related_disorder	MONDO:MONDO:0014729,MedGen:C4225250,OMIM:616680,Orphanet:459056|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.370	0.317900383162	0.0037	0.00239617	0.0044	0.0016	0.0022	0.0001	0.0011	0.0058	0.0061	0.0060	0.0042173	652	154602	rs144553163	0.0054	0.0055	0.0053	0.0055	0.0063	0.0053	0.0053	0.0062	0.0062	0.0011	0.0019	0.0003	0	0.0010	0.0049	0.0063	0.0042	0.0051	0.0040	0.0040	0.0043	0.0036	0.0070	0.0037	0.0036	0.0065	0.0063	0.0014	0	0.0022	0.0003	0	0.0008	0.0034	0.0070	0.0005	0.0048	0.071	0.39575	T	0.101	0.38596	T	0.98	0.59353	D	0.782	0.57384	P	0.000053	0.53742	D	0.163867	0.784419	0.36625	D	1.355	0.33814	L	3.78	0.76037	T	-1.62	0.38924	N	0.123	0.11483	-0.5098	0.68294	T	0.274	0.64598	T	10	0.009121209	0.00206	T	0.318	0.91385	D	0.370	0.68930	.	.	0.64536359344	0.64243	0.5643018623974551	0.56357	0.478096384883	0.46899	0.549512326717	0.45789	T	0.285052	0.65784	T	-0.329821	0.06126	T	-0.241976	0.50606	T	0.0173554213605452	0.00474	T	0.805919	0.45429	T	0.21897237	0.44417	0.21848269	0.46553	0.24647926	0.47617	0.209051	0.45232	-6.183	0.48991	T	0.1177093208259177	0.10783	0.160	0.45871	B	.;.;.;.;.	.;.;.;.;.	3.563521	0.50150	22.9	0.99918718692552411	0.98586	0.49487	0.28444	N	AEFDBCI	0.195368	0.32240	N	0.0741978033257675	0.45262	2.785641	0.0888800289740042	0.43988	2.689319	0.999999340276584	0.74766	0.581397	0.33459	0	0.78372	0.99691	0	0.61531	0.40942	0	0.613276	0.41899	0	.	.	4.57	4.57	0.55860	2.345000	0.43675	2.654000	0.33835	0.533000	0.24879	0.991000	0.37257	0.984000	0.30665	0.986000	0.61781	0.0:1.0:0.0:0.0	14.866	0.70049	923	0.18507	.;CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005051	0.000000	0.004076	0.002924	0.000000	0.008621	0.000000	0.011450	0.1429	33.22	33	chr19	35299590	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=187;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1052	6	1	0	0
chr19	35511469	35511480	CCACTGCTGCCG	-	exonic	DMKN	.	nonframeshift deletion	DMKN:NM_001126057:exon5:c.849_860del:p.G288_G291del,DMKN:NM_001126058:exon5:c.849_860del:p.G288_G291del,DMKN:NM_001190348:exon5:c.849_860del:p.G288_G291del,DMKN:NM_001190349:exon5:c.849_860del:p.G288_G291del,DMKN:NM_033317:exon5:c.849_860del:p.G288_G291del	.	475	755	3	0	289	292	0.00198282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0090	0.0164	0.0081	0.0243	0.0143	0.0086	0.0094	0.0022	0.0001153	3	26028	rs771935851	0.0030	0.0042	0.0031	0.0030	0.0385	0.0029	0.0029	0.0359	0.0349	0.0285	0.0080	0.0046	0.0385	0.0043	0.0028	0.0016	0.0043	0.0014	0.0096	0.0097	0.0096	0.0096	0.0359	0.0090	0.0088	0.0335	0.0325	0.0359	0.0015	0.0073	0.0053	0.0293	0.0008	0.0103	0.0015	0.0101	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	67.59	39	chr19	35511468	.	ACCACTGCTGCCG	A	67.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=325;ExcessHet=1.1394;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,111,1665:.	6	0	1	0
chr19	35511468	35511480	ACCACTGCTGCCG	0	exonic	DMKN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	67.59	39	chr19	35511468	.	ACCACTGCTGCCG	*	67.59	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.967;DP=325;ExcessHet=1.1394;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,111,1665:.	5	0	2	0
chr19	35511491	35511491	C	0	exonic	DMKN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	971.47	32	chr19	35511491	.	C	*	971.47	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.835;DP=336;ExcessHet=1.1394;FS=0.593;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=5.92;ReadPosRankSum=0.13;SOR=0.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,111,1665:.	5	0	2	0
chr19	36006526	36006526	A	G	exonic	SYNE4	.	nonsynonymous SNV	SYNE4:NM_001297735:exon3:c.T425C:p.I142T,SYNE4:NM_001039876:exon5:c.T764C:p.I255T	Deafness, autosomal recessive 76, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	497517	not_provided|not_specified|SYNE4-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.116	0.00806147804124	0.0009	0.000199681	0.0007	0.0006	0	0	0	0.0008	0	0.0014	0.0004722	73	154602	rs199853331	0.0005	0.0005	0.0004	0.0005	0.0020	0.0004	0.0004	0.0017	0.0017	0.0004	0.0001	0.0078	5.066e-05	1.888e-05	0.0003	0.0002	0.0007	0.0020	0.0004	0.0004	0.0004	0.0005	0.0023	0.0004	0.0003	0.0013	0.0010	0.0004	0	6.542e-05	0.0069	0	0	0	0.0002	0	0.0023	0.002	0.72154	D	0.015	0.61642	D	0.421	0.43659	B	0.054	0.34892	B	0.175073	0.17261	N	0.601926	0.999538	0.21028	N	1.59	0.40313	L	1.19	0.37578	T	-3.06	0.65397	D	0.298	0.42639	-1.0250	0.22083	T	0.057	0.24130	T	10	0.009841025	0.00221	T	0.008061	0.21368	T	0.116	0.32463	.	.	0.506068822696	0.50244	0.11414871059187824	0.11342	0.45399419746	0.45084	0.324309319258	0.14074	T	0.085512	0.37517	T	-0.382779	0.02992	T	-0.335842	0.40814	T	0.0338687005375086	0.02616	T	0.79972	0.44511	T	0.2554635	0.48580	0.27263135	0.53175	0.2554635	0.48580	0.27263135	0.53174	-1.456	0.01676	T	0.1930892791184257	0.25396	0.153	0.33913	B	.;.;.	.;.;.	2.837389	0.37425	20.5	0.99645391696052399	0.76943	0.45144	0.27473	N	AEFDBCI	0.278001	0.39238	N	0.0178629270382107	0.42667	2.575184	0.13067327349688	0.46126	2.863729	0.635137076243517	0.22003	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.6	5.6	0.84997	2.115000	0.41544	11.085000	0.85821	0.756000	0.94297	0.498000	0.26940	1.000000	0.68203	0.571000	0.30675	1.0:0.0:0.0:0.0	12.170	0.53461	743	0.52768	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001009	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.1667	428.9	15	chr19	36006526	.	A	G	428.9	.	AC=2;AF=0.167;AN=12;DP=170;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.59;SOR=0.818	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1077	5	1	0	1
chr19	36720118	36720118	T	G	exonic	ZNF567	.	nonsynonymous SNV	ZNF567:NM_001363651:exon4:c.T1301G:p.V434G,ZNF567:NM_001322911:exon5:c.T1301G:p.V434G,ZNF567:NM_001322912:exon5:c.T1301G:p.V434G,ZNF567:NM_152603:exon5:c.T1301G:p.V434G,ZNF567:NM_001300979:exon6:c.T1394G:p.V465G,ZNF567:NM_001322913:exon6:c.T1394G:p.V465G,ZNF567:NM_001322914:exon6:c.T1394G:p.V465G,ZNF567:NM_001322916:exon6:c.T1394G:p.V465G,ZNF567:NM_001322917:exon6:c.T1394G:p.V465G,ZNF567:NM_001322919:exon6:c.T1394G:p.V465G,ZNF567:NM_001322915:exon7:c.T1394G:p.V465G,ZNF567:NM_001322918:exon7:c.T1394G:p.V465G,ZNF567:NM_001322920:exon7:c.T1394G:p.V465G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.0108122537487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.105	0.44702	T	0.891	0.52445	P	0.575	0.54098	P	0.099290	0.19940	N	0.363138	1	0.08975	N	1.09	0.27330	L	1.18	0.37746	T	-3.48	0.67941	D	0.256	0.35727	-1.0648	0.10596	T	0.080	0.31645	T	10	0.25192565	0.42539	T	0.010812	0.27768	T	0.198	0.48105	0.424	0.46857	0.750989448909	0.74873	0.21413334762583097	0.21329	0.999382502229	0.74359	0.471629559994	0.34905	T	0.152742	0.49328	T	0.0183792	0.54163	T	-0.211376	0.53562	T	0.560900488225629	0.34889	D	0.0274473	0.00684	T	0.3493395	0.57015	0.23642465	0.48913	0.3493395	0.57015	0.23642465	0.48912	-6.432	0.52967	T	.	.	0.609	0.71546	P	.;.;.;.	.;.;.;.	2.681242	0.34976	19.77	0.99303967727963149	0.58722	0.00057	0.00426	N	AEFGBHCI	0.115960	0.22778	N	-0.267902336698768	0.30394	1.694408	-0.369039086516702	0.25925	1.428792	0.01794637273149	0.13006	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.674467	0.66132	0	.	.	4.88	2.79	0.31792	0.015000	0.13250	.	.	-0.308000	0.06107	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1739:0.0931:0.1818:0.5512	1.609	0.02528	604	0.67577	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1250.83	37	chr19	36720118	.	T	G	1250.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.71;DP=305;ExcessHet=0;FS=1.681;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=-0.75;SOR=0.502	GT:AD:DP:GQ:PL	0/1:45,48:93:99:1261,0,1118	6	0	1	0
chr19	36720585	36720585	G	C	exonic	ZNF567	.	nonsynonymous SNV	ZNF567:NM_001322911:exon5:c.G1768C:p.E590Q,ZNF567:NM_001322912:exon5:c.G1768C:p.E590Q,ZNF567:NM_152603:exon5:c.G1768C:p.E590Q,ZNF567:NM_001300979:exon6:c.G1861C:p.E621Q,ZNF567:NM_001322913:exon6:c.G1861C:p.E621Q,ZNF567:NM_001322914:exon6:c.G1861C:p.E621Q,ZNF567:NM_001322916:exon6:c.G1861C:p.E621Q,ZNF567:NM_001322917:exon6:c.G1861C:p.E621Q,ZNF567:NM_001322919:exon6:c.G1861C:p.E621Q,ZNF567:NM_001322915:exon7:c.G1861C:p.E621Q,ZNF567:NM_001322918:exon7:c.G1861C:p.E621Q,ZNF567:NM_001322920:exon7:c.G1861C:p.E621Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00252678817879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.016	0.60972	D	0.054	0.22658	B	0.024	0.20255	B	0.000405	0.44736	D	0.000000	1	0.23725	N	0.555	0.15161	N	3.16	0.18414	T	-1.81	0.43334	N	0.105	0.08925	-1.0625	0.11142	T	0.036	0.15334	T	10	0.175197	0.32439	T	0.002527	0.05065	T	0.083	0.24192	0.523	0.62668	0.279370189704	0.27548	0.08649725833851973	0.08583	0.277099322987	0.30180	0.337151706219	0.16012	T	0.045736	0.27211	T	-0.229616	0.16700	T	-0.567604	0.15671	T	0.569444715976715	0.35214	D	0.150285	0.01611	T	0.26107454	0.49165	0.16180101	0.37617	0.26107454	0.49165	0.16180101	0.37616	-6.667	0.51561	T	.	.	0.180	0.42244	B	.;.;.	.;.;.	2.627555	0.34156	19.55	0.97472896362628203	0.34147	0.00043	0.00351	N	AEFDGBHCI	0.071367	0.14206	N	-0.329039622307207	0.28049	1.543943	-0.194272004171784	0.31747	1.799533	0.862295282701992	0.25249	0.651	0.46895	0	0.633656	0.55848	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.12	5.12	0.69459	-0.312000	0.08153	.	.	0.520000	0.23804	0.000000	0.06391	0.400000	0.24706	0.978000	0.57271	0.0:0.0:1.0:0.0	16.437	0.83718	604	0.67577	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	938.63	37	chr19	36720585	.	G	C	938.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.535;DP=272;ExcessHet=0;FS=3.159;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=0.53;SOR=1.179	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	6	0	1	0
chr19	36720655	36720655	T	C	exonic	ZNF567	.	nonsynonymous SNV	ZNF567:NM_001322911:exon5:c.T1838C:p.I613T,ZNF567:NM_001322912:exon5:c.T1838C:p.I613T,ZNF567:NM_152603:exon5:c.T1838C:p.I613T,ZNF567:NM_001300979:exon6:c.T1931C:p.I644T,ZNF567:NM_001322913:exon6:c.T1931C:p.I644T,ZNF567:NM_001322914:exon6:c.T1931C:p.I644T,ZNF567:NM_001322916:exon6:c.T1931C:p.I644T,ZNF567:NM_001322917:exon6:c.T1931C:p.I644T,ZNF567:NM_001322919:exon6:c.T1931C:p.I644T,ZNF567:NM_001322915:exon7:c.T1931C:p.I644T,ZNF567:NM_001322918:exon7:c.T1931C:p.I644T,ZNF567:NM_001322920:exon7:c.T1931C:p.I644T	.	432	1002	84	4	0	92	0.0438931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	.	0.0050	0.014377	0.0132	0.0005	0.0045	0.0002	0.0015	0.0067	0.0208	0.0880	0.012917	1997	154602	rs140175549	0.0096	0.0100	0.0077	0.0115	0.0796	0.0095	0.0094	0.0779	0.0772	0.0008	0.0052	0.0101	0.0002	0.0015	0.0211	0.0059	0.0114	0.0796	0.0070	0.0070	0.0062	0.0077	0.0728	0.0066	0.0065	0.0665	0.0641	0.0009	0.0022	0.0060	0.0086	0.0002	0.0009	0.0272	0.0075	0.0100	0.0728	0.025	0.47745	D	0.035	0.52389	D	0.037	0.20876	B	0.014	0.16862	B	0.001837	0.00831	N	3.122940	1	0.81001	D	-0.26	0.03792	N	3.2	0.08283	T	0.06	0.06253	N	0.052	0.02366	-1.0035	0.28903	T	0.013	0.05177	T	10	0.0017394125	0.00022	T	.	.	.	0.116	0.32463	.	.	.	.	0.02467897446445342	0.02418	0.341437195331	0.36074	0.370252728462	0.20868	T	0.012319	0.10847	T	-0.63367	0.00091	T	-0.622987	0.10953	T	0.00912857202348307	0.00115	T	0.367963	0.08605	T	0.09304879	0.21845	0.085792944	0.19833	0.09304879	0.21844	0.085792944	0.19832	-2.883	0.09406	T	.	.	0.052	0.00742	B	.;.;.	.;.;.	0.981068	0.13585	10.11	0.97326509846944032	0.33403	0.00094	0.00618	N	AEFGBHCI	0.087069	0.17654	N	-0.628539992432899	0.18090	0.9364359	-0.538686525464082	0.21106	1.140228	0.999444655585273	0.39736	0.615465	0.37627	0	0.633656	0.55848	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	4.88	4.88	0.63131	0.655000	0.24618	.	.	0.497000	0.22564	0.002000	0.15269	0.000000	0.08366	0.780000	0.36908	0.0:0.0:0.0:1.0	11.057	0.47145	604	0.67577	Zinc finger C2H2-type;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026183	0.000000	0.012228	0.011696	0.000000	0.008621	0.024390	0.071970	0.07143	477.83	37	chr19	36720655	.	T	C	477.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.82;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.19;ReadPosRankSum=0.132;SOR=0.704	GT:AD:DP:GQ:PL	0/1:32,20:52:99:488,0,805	6	0	1	0
chr19	36997444	36997444	C	T	exonic	ZNF568	.	nonsynonymous SNV	ZNF568:NM_001204839:exon9:c.C1561T:p.H521Y,ZNF568:NM_001204838:exon10:c.C1753T:p.H585Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	.	.	0.0091853	0.0027	0.0306	0.0016	0	0	0.0002	0	0	0.0021216	328	154602	rs61745621	0.0010	0.0010	0.0012	0.0009	0.0359	0.0010	0.0010	0.0342	0.0335	0.0359	0.0018	0	0	0	0.0033	3.712e-05	0.0029	0.0002	0.0093	0.0093	0.0097	0.0090	0.0325	0.0089	0.0088	0.0310	0.0305	0.0325	0	0.0035	0	0	0	0	8.823e-05	0.0047	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.988194	0.40720	D	.	.	.	-0.27	0.67367	T	-5.84	0.88431	D	0.549	0.57518	-0.0719	0.80737	T	0.246	0.61506	T	8	0.0083118975	0.00189	T	.	.	.	0.550	0.81369	.	.	0.80803835124	0.80623	.	.	.	.	.	.	.	.	.	.	-0.268698	0.11903	T	-0.135058	0.60543	T	0.0718216881913296	0.08904	T	0.819918	0.47811	T	.	.	.	.	.	.	.	.	-10.693	0.77947	D	.	.	0.591	0.69037	P	.;.	.;.	3.472615	0.48458	22.6	0.99727154537293117	0.82477	0.91205	0.53066	D	AEFBHCI	0.566207	0.57228	D	0.702144581438015	0.79772	7.14902	0.582871648925314	0.73714	6.015617	0.99790777475443	0.36174	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.8	3.8	0.42887	2.466000	0.44742	.	.	0.520000	0.23804	0.936000	0.32490	0.000000	0.08366	0.011000	0.09372	0.0:1.0:0.0:0.0	13.61	0.61539	662	0.61715	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006736	0.005051	0.010870	0.006993	0.000000	0.000000	0.000000	0.003788	0.07143	1126.63	44	chr19	36997444	.	C	T	1126.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.459;DP=435;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=0.884;SOR=0.636	GT:AD:DP:GQ:PL	0/1:66,50:116:99:1137,0,1640	6	0	1	0
chr19	37186371	37186371	C	T	exonic	ZNF585B	.	nonsynonymous SNV	ZNF585B:NM_152279:exon5:c.G1166A:p.R389K	.	358	1161	3	0	0	3	0.00129032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	0.0113818	0.0028	0.0303	0.0010	0.0001	0	0.0001	0	0.0003	0.0026649	412	154602	rs112958950	0.0009	0.0009	0.0010	0.0007	0.0291	0.0008	0.0008	0.0276	0.0270	0.0291	0.0012	0	5.038e-05	1.872e-05	0.0028	7.104e-05	0.0018	0.0003	0.0078	0.0079	0.0082	0.0075	0.0274	0.0075	0.0073	0.0261	0.0255	0.0274	0	0.0020	0	0	0	0	0.0001	0.0062	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.001214	0.39820	N	0.000000	1	0.81001	D	-0.385	0.03041	N	2.77	0.11407	T	2.68	0.00194	N	0.107	0.11054	-0.9497	0.41023	T	0.004	0.01159	T	10	0.0025695264	0.00039	T	.	.	.	0.035	0.08770	.	.	0.130388298395	0.12655	0.026753635890488656	0.02625	0.301449138178	0.32482	0.514855742455	0.40903	T	0.017921	0.14537	T	-0.690429	0.00042	T	-0.742217	0.03798	T	0.00102930978295012	0.00010	T	0.0376962	0.00261	T	0.048542056	0.08476	0.052093543	0.08514	0.048542056	0.08476	0.052093543	0.08514	0.294	0.00260	T	.	.	0.065	0.02038	B	.;.	.;.	1.396874	0.18105	13.55	0.37341747942745823	0.02455	0.03623	0.08862	N	AEFGBCI	0.051975	0.09233	N	-1.05986893306434	0.07395	0.3434153	-0.843721152194992	0.13438	0.6971309	0.00228101637099544	0.09286	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.89	2.89	0.32713	1.531000	0.35624	.	.	-0.223000	0.07921	0.875000	0.30889	0.004000	0.18990	0.890000	0.42831	0.0:0.1313:0.0:0.8687	6.372	0.20690	647	0.63344	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.009511	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	1946.44	35	chr19	37186371	.	C	T	1946.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.36;DP=350;ExcessHet=0;FS=1.302;MLEAC=1;MLEAF=0.071;MQ=52.27;MQRankSum=-4.653;QD=12.89;ReadPosRankSum=-1.721;SOR=0.566	GT:AD:DP:GQ:PL	0/1:81,70:151:99:1957,0,2192	6	0	1	0
chr19	37388420	37388420	C	-	exonic	ZNF527	.	frameshift deletion	ZNF527:NM_032453:exon5:c.371delC:p.S125Vfs*26	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	43.4	35	chr19	37388419	.	TC	T	43.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.2;ReadPosRankSum=1.07;SOR=0.446	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1149	6	0	1	0
chr19	37414166	37414166	A	C	exonic	ZNF569	.	nonsynonymous SNV	ZNF569:NM_001330482:exon5:c.T15G:p.H5Q,ZNF569:NM_152484:exon6:c.T492G:p.H164Q	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0059922374351	0.0002	.	0.0004	0.0002	8.658e-05	0	0	0.0006	0.0011	0.0001	0.0003169	49	154602	rs140277147	0.0004	0.0004	0.0003	0.0004	0.0010	0.0003	0.0003	0.0005	0.0003	5.98e-05	0.0002	0.0126	0	0	0.0010	9.175e-05	0.0009	0.0001	0.0005	0.0005	0.0005	0.0005	0.0003	0.0004	0.0004	0.0001	8.877e-05	2.412e-05	0	0.0003	0.0167	0	0	0	0.0002	0.0019	0	0.425	0.09687	T	0.625	0.23231	T	0.0	0.02946	B	0.0	0.01387	B	0.780607	0.06652	N	1.165230	1	0.08975	N	0.72	0.18721	N	3.3	0.08547	T	-0.02	0.07299	N	0.057	0.11626	-0.9390	0.42774	T	0.011	0.04321	T	10	0.0044806004	0.00092	T	0.005992	0.15638	T	0.027	0.05988	0.348	0.34436	0.162503812791	0.15892	0.0429860637406652	0.04243	0.124506047228	0.14020	0.261024653912	0.05014	T	0.031959	0.22276	T	-0.596238	0.00154	T	-0.839185	0.01111	T	0.00159425861766531	0.00016	T	0.0240976	0.00855	T	0.042610176	0.06493	0.03761357	0.03450	0.042610176	0.06493	0.03761357	0.03450	-4.272	0.27783	T	.	.	0.084	0.14108	B	.;.;.;.	.;.;.;.	0.511511	0.08805	5.581	0.77762799604063748	0.12012	0.00003	0.00079	N	AEFGBHCI	0.039516	0.05751	N	-1.07770562918285	0.07056	0.3266435	-1.09014932092358	0.07894	0.3858119	0.0578566082071594	0.15107	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	2.7	-0.838	0.10218	-0.249000	0.08861	.	.	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.880000	0.42090	0.4121:0.2077:0.3802:0.0	3.912	0.08710	633	0.64743	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	72.0	36	chr19	37414166	.	A	C	72.0	.	AC=2;AF=0.143;AN=14;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=24;SOR=1.179	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1374	6	1	0	0
chr19	37885690	37885690	G	A	exonic	WDR87	.	stopgain	WDR87:NM_001291088:exon6:c.C7981T:p.Q2661X,WDR87:NM_031951:exon6:c.C7864T:p.Q2622X	.	429	1092	1	0	0	1	0.000457666	.	.	.	2853957	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0	0.0012	0	0	9.06e-05	14	154602	rs201341562	0.0002	0.0002	0.0002	0.0002	0.0140	0.0001	0.0001	0.0116	0.0106	0	0.0002	0.0029	0	2.028e-05	0.0140	4.078e-05	0.0004	3.786e-05	0.0001	0.0001	0.0001	0.0001	0.0002	8.666e-05	7.258e-05	5.287e-05	2.835e-05	0	0	0.0002	0.0032	0	0	0	7.35e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.043	0.01577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183541	0.72367	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	5.939487	0.94125	33	0.94766780056945465	0.25482	0.07628	0.13636	N	AEFBHCI	0.037835	0.05263	N	0.00498742878222219	0.42082	2.528878	-0.38030580842423	0.25584	1.407889	9.02768247932724E-4	0.07987	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	4.14	0.791	0.17762	0.245000	0.17917	.	.	-0.113000	0.14837	0.004000	0.16614	0.006000	0.19429	0.066000	0.16387	0.386:0.0:0.614:0.0	5.502	0.16125	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001196	0.000000	0.000000	0.000000	0.000000	0.000000	0.005682	0.000000	0.07143	1898.44	98	chr19	37885690	.	G	A	1898.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.797;DP=733;ExcessHet=0;FS=3.026;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-0.848;SOR=0.882	GT:AD:DP:GQ:PL	0/0:149,0:149:99:0,120,1800	6	0	1	0
chr19	37887093	37887093	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6578C:p.I2193T,WDR87:NM_031951:exon6:c.T6461C:p.I2154T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0455139123668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.853e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.22138	T	0.693	0.05882	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-0.28	0.67543	T	-0.07	0.08033	N	0.067	0.03956	-0.9885	0.32978	T	0.121	0.42208	T	9	0.0735006	0.11114	T	0.045514	0.62018	D	0.030	0.07022	0.322	0.30226	0.0551355673512	0.04727	0.019455290587693495	0.01899	.	.	0.366222500801	0.20289	T	.	.	.	-0.271564	0.11583	T	-0.627859	0.10578	T	0.0769434833446011	0.09592	T	0.353365	0.07952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37293	B	.;.	.;.	-1.370848	0.00382	0.007	0.78222985595802419	0.12208	0.01418	0.04786	N	AEFGBI	0.030388	0.03052	N	-1.5918959215929	0.01305	0.05684392	-1.65151224496589	0.01368	0.06179205	0.00476714215870287	0.10704	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	-4.52	0.03227	-2.190000	0.01332	.	.	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3557:0.1261:0.5182:0.0	8.886	0.34564	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	1280.76	60	chr19	37887093	.	A	G	1280.76	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-4.3;DP=548;ExcessHet=2.5225;FS=213.033;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=3.38;ReadPosRankSum=1.25;SOR=9.19	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,32:112:99:0|1:37887093_A_G:609,0,2842:37887093	3	0	4	0
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I,WDR87:NM_031951:exon6:c.G6459A:p.M2153I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0204136497208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.276	0.22016	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.48	0.15379	N	0.108	0.10483	-1.0375	0.18078	T	0.044	0.18948	T	9	0.05899042	0.07022	T	0.020414	0.42999	T	0.009	0.00846	0.39	0.41279	0.0920862733494	0.08535	0.029034270678991596	0.02852	.	.	0.393157303333	0.24114	T	.	.	.	-0.264741	0.12349	T	-0.618058	0.11338	T	0.0694930752056396	0.08580	T	0.381062	0.09207	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.64238	A	.;.	.;.	0.319938	0.06943	3.492	0.38647600985457964	0.02619	0.03920	0.09307	N	AEFGBI	0.049399	0.08530	N	-1.08419287681575	0.06934	0.320632	-1.08622430549721	0.07971	0.3899139	4.11720576999195E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	0.383	0.15462	0.602000	0.23833	.	.	0.589000	0.31548	0.070000	0.22072	0.000000	0.08366	0.013000	0.09966	0.3759:0.3632:0.0:0.2609	2.678	0.04771	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	1980.43	59	chr19	37887095	.	C	T	1980.43	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.501;DP=540;ExcessHet=4.7409;FS=289.526;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.2;ReadPosRankSum=0.856;SOR=9.624	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,33:113:99:0|1:37887093_A_G:629,0,2839:37887093	1	0	5	1
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T,WDR87:NM_031951:exon6:c.T6458C:p.M2153T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0229314344301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.173e-07	2.259e-05	1.416e-06	0	9.296e-07	0	0	.	.	0	0	0	0	0	0	9.296e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.639	0.06992	T	0.213	0.30041	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	.	.	.	1.06	0.39781	T	-1.37	0.33998	N	0.241	0.27197	-1.0379	0.17954	T	0.045	0.19437	T	9	0.07963219	0.12831	T	0.022931	0.45860	T	0.034	0.08419	0.354	0.35408	0.132336055621	0.12781	0.09333230472886582	0.09265	.	.	0.44281449914	0.30962	T	.	.	.	-0.187347	0.22650	T	-0.506887	0.21634	T	0.185715109109879	0.19588	T	0.310469	0.06031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.66846	A	.;.	.;.	1.675669	0.21359	15.17	0.2656475844503623	0.01278	0.05870	0.11817	N	AEFGBI	0.068161	0.13433	N	-0.937720259489842	0.09970	0.4742779	-0.936529822273914	0.11236	0.5712116	0.00186976402927546	0.08957	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	2.35	0.28166	3.208000	0.50816	.	.	0.743000	0.86499	0.302000	0.25342	0.056000	0.21938	0.017000	0.10941	0.637:0.1851:0.0:0.1778	5.276	0.14959	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1734.39	47	chr19	37887096	.	A	G	1734.39	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-3.754;DP=528;ExcessHet=2.5225;FS=289.601;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=4.26;ReadPosRankSum=1.08;SOR=9.25	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,32:112:99:0|1:37887093_A_G:622,0,2841:37887093	2	0	4	1
chr19	37893757	37893757	A	C	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon4:c.T1946G:p.F649C,WDR87:NM_031951:exon4:c.T1829G:p.F610C	.	424	1096	1	1	0	3	0.00136674	.	.	.	2736706	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.264	.	0.0031	0.00359425	0.0012	0.0111	0.0025	0	0	0.0001	0	0.0001	0.000414	64	154602	rs143790940	0.0004	0.0004	0.0005	0.0004	0.0138	0.0004	0.0004	0.0127	0.0123	0.0138	0.0009	0.0006	0	0	0.0023	1.298e-05	0.0012	0.0001	0.0038	0.0038	0.0039	0.0036	0.0131	0.0035	0.0034	0.0122	0.0118	0.0131	0	0.0013	0.0003	0	0	0	2.94e-05	0.0033	0.0002	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000008	0.62929	D	0.000000	0.745179	0.33866	D	.	.	.	2.56	0.13673	T	-6.17	0.90254	D	0.606	0.62357	-0.8702	0.50514	T	0.072	0.29163	T	10	0.009462953	0.00213	T	.	.	.	0.264	0.57741	.	.	0.274366138417	0.27033	0.7060006704290418	0.70542	.	.	0.640422224998	0.58623	T	.	.	.	-0.332591	0.05917	T	-0.238197	0.50975	T	0.0833368597261012	0.10408	T	0.753825	0.37593	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.843	0.79416	P	.;.	.;.	4.527237	0.71041	25.6	0.97910061609269405	0.36808	0.88507	0.48466	D	AEFBCI	0.566001	0.57216	D	0.735137176075446	0.81936	7.640117	0.706861666280565	0.82901	7.883012	0.999998180794928	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.62	5.62	0.85714	5.325000	0.65649	.	.	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	12.202	0.53643	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	101.44	33	chr19	37893757	.	A	C	101.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.242;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=0.936;SOR=1.022	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr19	38192248	38192248	G	A	exonic	SIPA1L3	.	nonsynonymous SNV	SIPA1L3:NM_015073:exon17:c.G4534A:p.D1512N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.030957590412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.061	0.92824	T	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999994	0.58761	D	2.51	0.73131	M	1.2	0.37405	T	-2.87	0.60348	D	0.621	0.63628	-0.7950	0.55438	T	0.184	0.53225	T	10	0.43320912	0.57626	T	0.030958	0.53153	D	0.275	0.59130	0.346	0.34112	0.518490484181	0.51493	0.3230071047796424	0.32213	0.646601930215	0.58067	0.846655488014	0.89108	D	0.090931	0.47131	T	-0.099797	0.36457	T	-0.381128	0.35591	T	0.959940061713101	0.65668	D	0.935806	0.76258	D	0.4991163	0.67043	0.3790424	0.62968	0.4991163	0.67044	0.3790424	0.62968	-9.088	0.68261	D	.	.	0.664	0.79584	P	.;.	.;.	5.237421	0.87926	29.4	0.99928508644616665	0.99222	0.98431	0.82706	D	AEFBI	0.839354	0.75677	D	0.721555937434072	0.81047	7.431305	0.725643128013083	0.84326	8.260822	0.999999997229875	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	8.373000	0.90023	11.853000	0.98135	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	17.488	0.87587	628	0.65206	Signal-induced proliferation-associated 1-like protein, C-terminal;Signal-induced proliferation-associated 1-like protein, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	2498.24	34	chr19	38192248	.	G	A	2498.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.23;DP=383;ExcessHet=0.3476;FS=1.612;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=0.824;SOR=0.651	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1476	5	0	2	0
chr19	38408781	38408781	G	A	exonic	FAM98C	.	nonsynonymous SNV	FAM98C:NM_001351675:exon6:c.G703A:p.G235S,FAM98C:NM_174905:exon8:c.G949A:p.G317S	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.780	0.0637544355438	.	.	1.66e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs754022580	1.231e-05	1.231e-05	8.168e-06	1.65e-05	0.0002	7.7e-06	6.35e-06	9.792e-05	7.839e-05	0	0	0	2.52e-05	0	0	8.993e-07	3.312e-05	0.0002	1.314e-05	1.313e-05	0	2.689e-05	0.0004	2.18e-06	8.2e-07	7.301e-05	3.033e-05	0	0	0	0	0	0	0	0	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.424131	0.04666	N	1.420460	0.860269	0.81001	D	3.39	0.91563	M	-1.31	0.79666	T	-5.53	0.86073	D	0.889	0.89131	0.094	0.84065	D	0.772	0.92262	D	10	0.97424334	0.97128	D	0.063754	0.69066	D	0.780	0.92664	0.864	0.95995	0.914971029816	0.91411	0.6498900534379484	0.64925	0.737478978049	0.63061	0.527384519577	0.42666	T	0.352588	0.72000	T	0.397981	0.89796	D	0.53655	0.95309	D	0.939560161813053	0.61111	D	0.873013	0.68343	D	0.7659568	0.81806	0.8367999	0.90628	0.7659568	0.81808	0.8367999	0.90628	-3.477	0.18350	T	.	.	0.522	0.66225	A	.;.	.;.	4.699846	0.75395	26.3	0.99897986523618532	0.97048	0.94568	0.61589	D	AEFI	0.833741	0.75190	D	0.924520244726384	0.92909	11.70218	0.890483267331518	0.95145	13.35121	0.999994482081721	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.92	5.92	0.95557	5.990000	0.70269	9.770000	0.81549	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	17.815	0.88542	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1001.63	34	chr19	38408781	.	G	A	1001.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.95;DP=273;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=1.15;SOR=0.737	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1304	6	0	1	0
chr19	38478510	38478510	C	A	exonic	RYR1	.	nonsynonymous SNV	RYR1:NM_000540:exon31:c.C4530A:p.H1510Q,RYR1:NM_001042723:exon31:c.C4530A:p.H1510Q	Central core disease, Autosomal recessive, Autosomal dominant;King-Denborough syndrome, Autosomal dominant;Minicore myopathy with external ophthalmoplegia, Autosomal recessive;Neuromuscular disease, congenital, with uniform type 1 fiber, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0231170071813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.22224	T	.	.	.	0.043	0.24389	B	0.031	0.35854	B	0.001569	0.38612	U	0.171732	0.89342	0.27839	N	-1.61	0.00416	N	0.28	0.59037	T	-1.68	0.40082	N	0.172	0.20793	-1.0395	0.17465	T	0.084	0.32843	T	10	0.06795207	0.09541	T	0.023117	0.46062	T	0.067	0.19503	0.412	0.44887	0.548779645056	0.54534	0.3324350854780503	0.33156	0.340633307598	0.36003	0.563576340675	0.47772	T	0.447521	0.78976	T	-0.105806	0.35463	T	-0.389759	0.34580	T	0.273205995559692	0.23884	T	0.739226	0.35772	T	0.062785365	0.13153	0.080940254	0.18353	0.062785365	0.13152	0.080940254	0.18352	-7.608	0.58367	D	0.09651799042018416	0.06688	0.160	0.35414	B	.;.	.;.	1.596709	0.20419	14.74	0.96927432206076469	0.31644	0.32069	0.24494	N	AEFDBCI	0.217925	0.34299	N	-0.647611327033231	0.17530	0.9028348	-0.520157107255468	0.21607	1.169627	0.96412764784676	0.28738	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.5	3.46	0.38718	0.107000	0.15212	0.569000	0.19588	-0.284000	0.06380	0.040000	0.20979	0.951000	0.29025	0.811000	0.38219	0.0:0.5684:0.1903:0.2413	4.065	0.09333	760	0.50470	.;SPRY domain|B30.2/SPRY domain|SPRY domain|Ryanodine receptor, SPRY domain 3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1358.44	33	chr19	38478510	.	C	A	1358.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.39;DP=302;ExcessHet=0;FS=0.688;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=0.932;SOR=0.579	GT:AD:DP:GQ:PL	0/1:64,54:118:99:1369,0,1564	6	0	1	0
chr19	38494555	38494555	G	A	exonic	RYR1	.	nonsynonymous SNV	RYR1:NM_000540:exon39:c.G6478A:p.G2160S,RYR1:NM_001042723:exon39:c.G6478A:p.G2160S	Central core disease, Autosomal recessive, Autosomal dominant;King-Denborough syndrome, Autosomal dominant;Minicore myopathy with external ophthalmoplegia, Autosomal recessive;Neuromuscular disease, congenital, with uniform type 1 fiber, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	171236	Malignant_hyperthermia_and_exertional_rhabdomyolosis|not_provided|Malignant_hyperthermia,_susceptibility_to,_1|Congenital_multicore_myopathy_with_external_ophthalmoplegia|RYR1-related_disorder|Central_core_myopathy|Congenital_myopathy_with_fiber_type_disproportion|King_Denborough_syndrome	MedGen:CN221545|MedGen:C3661900|MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600,Orphanet:423|Human_Phenotype_Ontology:HP:0003789,Human_Phenotype_Ontology:HP:0003804,MONDO:MONDO:0009712,MedGen:C1850674,OMIM:255320,Orphanet:598,Orphanet:98905|MedGen:CN239331|MONDO:MONDO:0007294,MedGen:C5830701,OMIM:117000,Orphanet:597|MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020|MONDO:MONDO:0020485,MedGen:C1840365,OMIM:619542	reviewed_by_expert_panel	Uncertain_significance	.	.	.	.	.	.	.	.	0.635	0.0612966364918	0.0002	0.000199681	9.126e-05	0.0006	8.658e-05	0	0	0	0	0.0002	7.76e-05	12	154602	rs143398211	3.01e-05	3.01e-05	3.267e-05	2.75e-05	0.0006	2.282e-05	2.032e-05	0.0004	0.0003	0.0006	2.236e-05	0	5.038e-05	0	0	1.259e-05	3.312e-05	6.956e-05	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	9.233e-05	0.0003	0.0003	0.0005	0	0	0	0.0002	0	0	1.47e-05	0.0005	0	0.567	0.06381	T	.	.	.	0.448	0.37206	B	0.06	0.30579	B	0.000002	0.62929	U	0.000000	0.954616	0.37886	D	0.475	0.13142	N	-3.56	0.94869	D	-4.42	0.77470	D	0.532	0.56058	-0.0678	0.80828	T	0.564	0.84166	D	10	0.17900038	0.33012	T	0.061297	0.68284	D	0.635	0.86027	.	.	0.885086117135	0.88395	0.7774034703502605	0.77690	0.361046545308	0.37764	0.668029427528	0.62556	T	0.692358	0.91067	D	-0.00653183	0.50749	T	0.134809	0.79206	D	0.113301798701286	0.13763	T	0.915108	0.69728	D	0.17204787	0.37873	0.23414798	0.48624	0.1799848	0.39096	0.22851634	0.47895	-8.28	0.63203	D	0.13797441899275245	0.15228	0.180	0.39151	B	.;.	.;.	3.827164	0.55303	23.6	0.99512581962573143	0.68739	0.92972	0.57003	D	AEFDBI	0.662020	0.63204	D	-0.323177881297509	0.28270	1.557893	-0.226923715096967	0.30576	1.722738	0.994181383628553	0.33525	0.730579	0.87903	0	0.588066	0.40923	0	0.749866	0.98131	0	0.613276	0.41899	0	.	.	4.63	2.38	0.28415	4.698000	0.61475	4.970000	0.46394	-0.185000	0.09859	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0835:0.0:0.7694:0.1471	9.977	0.40962	746	0.52331	.;RIH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	171.19	33	chr19	38494555	.	G	A	171.19	.	AC=2;AF=0.143;AN=14;DP=213;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=24.46;SOR=0.941	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1320	6	1	0	0
chr19	38733773	38733773	A	-	exonic	CAPN12	.	frameshift deletion	CAPN12:NM_144691:exon18:c.1887delT:p.F629Lfs*12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	43.4	35	chr19	38733772	.	TA	T	43.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.068;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.2;ReadPosRankSum=-1.981;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1173:.	6	0	1	0
chr19	38733773	38733773	A	0	exonic	CAPN12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	15859.8	82	chr19	38733773	.	A	*	15859.8	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.321;DP=586;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=27.63;ReadPosRankSum=-1.044;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:160:99:.:.:5012,5012,5012:.	6	0	1	0
chr19	38733774	38733774	A	G	exonic	CAPN12	.	nonsynonymous SNV	CAPN12:NM_144691:exon18:c.T1886C:p.F629S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.541	0.0860008720143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.83351	D	0.937	0.52445	P	0.645	0.52270	P	0.000013	0.62929	D	0.113900	0.987587	0.40615	D	4.24	0.98003	H	-0.46	0.70014	T	-6.51	0.91653	D	0.953	0.96187	-0.1228	0.79569	T	0.507	0.81454	D	10	0.9644434	0.95901	D	0.086001	0.74647	D	0.541	0.80842	0.783	0.90693	0.729663953973	0.72726	0.6853421081630479	0.68473	0.152845053789	0.17248	0.615104317665	0.55037	T	0.460848	0.79786	T	0.366988	0.87790	D	0.289377	0.87634	D	0.999412417411804	0.97310	D	0.422958	0.21881	T	0.85128045	0.87431	0.67029804	0.80656	0.85128045	0.87432	0.67029804	0.80657	-11.854	0.84132	D	.	.	0.912	0.83563	P	.;.;.	.;.;.	3.862548	0.56023	23.7	0.99720375300981878	0.81984	0.82762	0.41946	D	AEDGBHCIJ	0.594400	0.58935	D	0.407054074570214	0.61809	4.387199	0.187380851813132	0.49154	3.122121	0.999999995811125	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.643519	0.47002	0	0.662026	0.63922	0	.	.	3.94	2.9	0.32809	4.831000	0.62441	7.989000	0.76104	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.065000	0.16320	0.6932:0.0:0.1109:0.1959	3.462	0.07102	689	0.59000	EF-hand domain;EF-hand domain;EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	43.44	40	chr19	38733774	.	A	G	43.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.068;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.21;ReadPosRankSum=-1.981;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1440:.	6	0	1	0
chr19	38738310	38738310	C	T	exonic	CAPN12	.	nonsynonymous SNV	CAPN12:NM_144691:exon8:c.G928A:p.D310N	.	431	1090	1	0	0	1	0.000458505	.	.	.	2682173	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.266	0.0728987443023	0.0003	.	0.0001	0.0002	0	0	0	0.0002	0.0012	0	0.0001164	18	154602	rs139134484	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	2.236e-05	0.0003	2.519e-05	0	0.0002	0.0002	0.0003	2.321e-05	0.0001	0.0001	0.0001	0.0001	0.0002	8.665e-05	7.257e-05	7.908e-05	5.993e-05	0.0001	0	6.544e-05	0.0009	0.0002	0	0	0.0001	0	0	0.1	0.30515	T	0.233	0.28210	T	0.658	0.40863	P	0.086	0.29521	B	0.121843	0.18979	N	0.376195	0.997316	0.43790	D	0.655	0.16177	N	-2.33	0.87910	D	-2.0	0.46146	N	0.226	0.25377	-0.2050	0.77541	T	0.400	0.75152	T	10	0.1909213	0.34755	T	0.072899	0.71652	D	0.266	0.57999	.	.	0.788040571525	0.78607	0.19557793905617682	0.19474	0.144431503328	0.16320	0.512565732002	0.40581	T	0.084179	0.37221	T	-0.331536	0.05997	T	-0.444705	0.28282	T	0.0364370383322239	0.03056	T	0.565243	0.19970	T	0.15741715	0.35472	0.11239048	0.27117	0.15741715	0.35471	0.11239048	0.27116	-4.636	0.32621	T	.	.	0.083	0.10352	B	.;.	.;.	3.419375	0.47472	22.5	0.99691778743890402	0.79977	0.62066	0.31670	D	AEFDBHCI	0.434076	0.49528	N	-0.191093188888891	0.33505	1.90155	-0.125671313574414	0.34359	1.975483	0.999999999999722	0.74766	0.676563	0.55306	0	0.588066	0.40923	0	0.673471	0.61138	0	0.584449	0.35598	0	.	.	4.89	4.89	0.63387	2.048000	0.40903	4.766000	0.44744	0.587000	0.30956	0.461000	0.26652	1.000000	0.68203	0.027000	0.12703	0.0:1.0:0.0:0.0	15.903	0.79182	675	0.60470	Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1161.49	37	chr19	38738310	.	C	T	1161.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.826;DP=315;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-2.073;SOR=0.627	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	6	0	1	0
chr19	38815889	38815889	C	T	exonic	ECH1	.	nonsynonymous SNV	ECH1:NM_001398:exon9:c.G850A:p.D284N	.	426	1062	32	2	0	36	0.0166667	.	.	.	549788	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.184	.	0.0007	0.0439297	0.0217	0.0015	0.0138	0.1011	0.0108	0.0010	0.0111	0.0872	0.0196634	3040	154602	rs58750431	0.0088	0.0088	0.0069	0.0108	0.0926	0.0087	0.0087	0.0902	0.0891	0.0005	0.0126	0.0042	0.0926	0.0111	0.0066	0.0003	0.0128	0.0790	0.0086	0.0086	0.0065	0.0109	0.1036	0.0082	0.0081	0.0963	0.0934	0.0008	0	0.0086	0.0026	0.1036	0.0105	0	0.0006	0.0080	0.0901	0.052	0.39097	T	0.043	0.49942	D	0.58	0.38813	P	0.232	0.38314	B	0.000557	0.43413	N	0.224693	0.995888	0.42905	D	1.96	0.53105	M	-0.34	0.68474	T	-3.92	0.73151	D	0.127	0.12055	-1.0969	0.04487	T	0.016	0.06425	T	10	0.003258437	0.00056	T	.	.	.	0.184	0.45763	.	.	.	.	0.5948108593860878	0.59411	0.210675352167	0.23564	.	.	.	0.126685	0.45322	T	-0.608825	0.00129	T	-0.560458	0.16333	T	0.0442205592395221	0.04461	T	.	.	.	0.0875064	0.20380	0.08958698	0.20957	0.0875064	0.20379	0.08958698	0.20957	-7.382	0.56778	T	.	.	0.113	0.22464	B	.	.	1.427526	0.18454	13.74	0.99155882767163839	0.53959	0.76974	0.37797	D	AEFDBHCI	0.564811	0.57144	D	-0.363951650050263	0.26763	1.463097	-0.386532372428914	0.25398	1.396471	0.934234573778894	0.27162	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.85	1.52	0.22158	2.858000	0.48055	-0.124000	0.11690	-0.260000	0.06918	0.990000	0.36992	0.000000	0.08366	0.009000	0.08673	0.0:0.7388:0.0:0.2612	8.821	0.34186	583	0.69484	.	.	.	.	.	rs58750431	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012588	0.000000	0.006793	0.005848	0.000000	0.000000	0.003049	0.030303	0.1429	2223.26	35	chr19	38815889	.	C	T	2223.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.42;DP=404;ExcessHet=0.3476;FS=3.985;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=1.08;SOR=0.979	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	5	0	2	0
chr19	38893508	38893508	T	A	exonic	SIRT2	.	nonsynonymous SNV	SIRT2:NM_001193286:exon3:c.A21T:p.L7F,SIRT2:NM_030593:exon3:c.A21T:p.L7F,SIRT2:NM_012237:exon4:c.A132T:p.L44F	.	419	1089	12	2	0	16	0.00729262	.	.	.	704969	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.161	.	0.0110	0.0107827	0.0077	0.0190	0.0032	0.0020	0.0007	0.0086	0.0071	0.0060	0.0075031	1160	154602	rs45535036	0.0078	0.0079	0.0079	0.0077	0.0173	0.0077	0.0077	0.0162	0.0157	0.0173	0.0036	0	0.0018	0.0015	0.0040	0.0086	0.0078	0.0056	0.0096	0.0096	0.0101	0.0091	0.0170	0.0092	0.0090	0.0160	0.0156	0.0170	0	0.0053	0	0.0031	0.0013	0.0034	0.0088	0.0085	0.0054	0.627	0.06502	T	0.589	0.08245	T	0.001	0.07471	B	0.005	0.16862	B	0.628531	0.10709	N	0.826605	0.998119	0.44524	D	0.2	0.09183	N	1.21	0.48769	T	0.57	0.11547	N	0.276	0.31253	-1.0503	0.14313	T	0.030	0.12804	T	10	0.0036471784	0.00067	T	.	.	.	0.161	0.41658	0.391	0.41443	0.139678290688	0.13603	0.40462940314711654	0.40378	0.23887650308	0.26443	0.387695014477	0.23345	T	0.11804	0.43856	T	-0.456061	0.01039	T	-0.413597	0.31810	T	0.00402687135974191	0.00043	T	.	.	.	0.15268978	0.34649	0.09309037	0.21972	0.15268978	0.34648	0.09309037	0.21971	-7.759	0.59416	D	.	.	0.106	0.19478	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.275245	0.29088	18.01	0.9688391060178797	0.31469	0.47111	0.27910	N	AEDBI	0.089627	0.18167	N	-0.900700129620411	0.10825	0.5192742	-0.781154816376222	0.14957	0.7842521	0.997731569887215	0.35965	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.26	0.518	0.16228	-0.022000	0.12424	0.904000	0.22573	-0.132000	0.13132	0.956000	0.33378	1.000000	0.68203	0.949000	0.49496	0.0:0.1369:0.5514:0.3117	8.856	0.34386	645	0.63593	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006042	0.010101	0.006793	0.000000	0.000000	0.017241	0.003049	0.007576	0.1429	763.29	33	chr19	38893508	.	T	A	763.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.28;DP=202;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=1.77;SOR=0.762	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1078	5	0	2	0
chr19	38930489	38930489	G	A	exonic	SARS2	.	nonsynonymous SNV	SARS2:NM_001145901:exon1:c.C248T:p.S83L,SARS2:NM_017827:exon1:c.C248T:p.S83L	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, Autosomal recessive	0	1451	68	3	0	74	0.0248656	.	.	.	142664	Hyperuricemia,_pulmonary_hypertension,_renal_failure,_alkalosis_syndrome|not_specified|not_provided	MONDO:MONDO:0013458,MedGen:C3151209,OMIM:613845,Orphanet:363694|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.096	.	0.0064	0.0091853	0.0100	0.0020	0.0067	0.0001	0.0046	0.0090	0.0153	0.0273	0.0093725	1449	154602	rs34050897	0.0096	0.0096	0.0091	0.0102	0.0259	0.0095	0.0095	0.0250	0.0246	0.0020	0.0069	0.0027	0.0001	0.0044	0.0141	0.0094	0.0097	0.0259	0.0066	0.0066	0.0066	0.0066	0.0259	0.0063	0.0061	0.0222	0.0208	0.0018	0	0.0059	0.0026	0.0004	0.0030	0.0136	0.0095	0.0099	0.0259	0.327	0.13262	T	0.312	0.19660	T	0.077	0.24313	B	0.004	0.10090	B	0.014799	0.28429	N	0.367956	.	.	.	0.345	0.11182	N	0.49	0.55775	T	-1.17	0.31375	N	0.179	0.29544	-0.7507	0.57899	T	0.096	0.36263	T	9	0.003596574	0.00065	T	.	.	.	0.096	0.27654	.	.	0.701561391093	0.69897	0.2950527999363668	0.29418	0.273909488683	0.29889	0.44043302536	0.30635	T	0.072744	0.34529	T	-0.482439	0.00716	T	-0.44617	0.28119	T	0.0226525112198306	0.00983	T	.	.	.	0.10467068	0.24745	0.14380763	0.34163	0.10447656	0.24699	0.14380763	0.34162	-4.243	0.31805	T	.	.	0.085	0.12750	B	.;.;.	.;.;.	2.975981	0.39681	21.0	0.9621310437656867	0.29063	0.26748	0.23082	N	ALL	0.164522	0.29092	N	-0.237899072677068	0.31589	1.77281	-0.233137074387494	0.30356	1.708518	1.0	0.98316	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.241949	0.04745	2	.	.	5.51	5.51	0.81769	2.031000	0.40737	11.638000	0.93763	0.676000	0.76740	0.048000	0.21332	1.000000	0.68203	0.010000	0.09038	0.0:0.0:1.0:0.0	14.793	0.69479	680	0.59965	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010617	0.015152	0.004087	0.000000	0.000000	0.000000	0.030488	0.018939	0.1429	485.24	33	chr19	38930489	.	G	A	485.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.41;DP=238;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=6.56;ReadPosRankSum=0.524;SOR=0.614	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1125	5	0	2	0
chr19	38932690	38932692	AGA	-	exonic	MRPS12	.	nonframeshift deletion	MRPS12:NM_021107:exon2:c.407_409del:p.K138del,MRPS12:NM_033362:exon3:c.407_409del:p.K138del,MRPS12:NM_033363:exon3:c.407_409del:p.K138del	.	421	1083	18	0	0	18	0.00824176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	0.00239617	0.0046	0.0007	0.0034	0	0.0202	0.0049	0.0138	0.0023	0.0003842	10	26028	rs563094654	0.0043	0.0043	0.0044	0.0042	0.0043	0.0042	0.0042	0.0041	0.0041	0.0010	0.0037	3.829e-05	5.039e-05	0.0180	0.0026	0.0043	0.0041	0.0022	0.0038	0.0039	0.0031	0.0046	0.0040	0.0036	0.0035	0.0036	0.0034	0.0008	0	0.0030	0	0.0004	0.0194	0	0.0040	0.0057	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003528	0.000000	0.001359	0.000000	0.000000	0.008621	0.012195	0.007576	0.1429	933.2	33	chr19	38932689	.	CAGA	C	933.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.917;DP=221;ExcessHet=0.3476;FS=1.134;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=15.82;ReadPosRankSum=-0.253;SOR=0.948	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1162	5	0	2	0
chr19	39244012	39244012	G	T	exonic	IFNL3	.	nonsynonymous SNV	IFNL3:NM_172139:exon3:c.C404A:p.A135D,IFNL3:NM_001346937:exon4:c.C416A:p.A139D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.019564859041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.22053	T	0.008	0.67890	D	0.999	0.77913	D	0.953	0.69275	D	0.142293	0.18249	N	0.538685	0.92842	0.27120	N	2.38	0.68558	M	1.37	0.34253	T	-4.73	0.80085	D	0.651	0.66187	-0.9538	0.40310	T	0.138	0.45583	T	10	0.6231302	0.68091	D	0.019565	0.41966	T	0.226	0.52472	0.255	0.19533	0.491317756052	0.48765	0.2382460020690153	0.23738	0.928827575298	0.71745	0.376197427511	0.21717	T	0.058862	0.30959	T	-0.00544094	0.50903	T	-0.245592	0.50251	T	0.961462259292603	0.66090	D	0.592841	0.21881	T	0.47141865	0.65377	0.3472045	0.60377	0.47141865	0.65378	0.3472045	0.60377	-4.383	0.29326	T	.	.	0.135	0.30103	B	.;.	.;.	3.858353	0.55934	23.7	0.99055264159460732	0.51344	0.34185	0.25007	N	AEFDI	0.064220	0.12458	N	0.0274725665493288	0.43108	2.610173	-0.1196778734366	0.34597	1.991919	8.23984788863751E-5	0.04703	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.95	0.204	0.14476	0.116000	0.15393	.	.	0.520000	0.23804	0.494000	0.26909	0.321000	0.24323	0.925000	0.46118	0.1219:0.2037:0.4651:0.2093	1.859	0.02991	584	0.69381	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	557.49	33	chr19	39244012	.	G	T	557.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.012;DP=265;ExcessHet=0;FS=1.908;MLEAC=1;MLEAF=0.071;MQ=59.91;MQRankSum=-1.35;QD=6.88;ReadPosRankSum=0.566;SOR=0.747	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,114,1616	6	0	1	0
chr19	39244094	39244094	T	C	exonic	IFNL3	.	nonsynonymous SNV	IFNL3:NM_172139:exon3:c.A322G:p.T108A,IFNL3:NM_001346937:exon4:c.A334G:p.T112A	.	408	1081	33	0	0	33	0.0150342	.	.	.	716424	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.027	.	0.0080	0.00658946	0.0063	0.0084	0.0023	0	0.0009	0.0072	0.0033	0.0096	0.0057502	889	154602	rs148543092	0.0076	0.0077	0.0076	0.0076	0.0153	0.0075	0.0075	0.0127	0.0117	0.0075	0.0028	0.0169	2.519e-05	0.0005	0.0153	0.0080	0.0090	0.0096	0.0065	0.0066	0.0069	0.0061	0.0098	0.0062	0.0061	0.0076	0.0068	0.0072	0.0011	0.0033	0.0170	0	0.0003	0.0272	0.0075	0.0057	0.0098	0.598	0.05668	T	0.564	0.09175	T	0.0	0.02946	B	0.0	0.01387	B	0.181763	0.03187	N	1.646800	1	0.08975	N	-0.805	0.01590	N	1.63	0.28002	T	0.07	0.06138	N	0.095	0.08786	-1.0032	0.28992	T	0.013	0.04843	T	10	0.004872024	0.00104	T	.	.	.	0.027	0.05988	.	.	0.0551355673512	0.04727	0.06321474939485254	0.06260	0.194421687405	0.21778	0.238838389516	0.02687	T	0.00212	0.01528	T	-0.653927	0.00068	T	-0.704564	0.05580	T	0.000677952636739895	0.00006	T	0.0663934	0.00484	T	0.06118931	0.12643	0.05127555	0.08218	0.06118931	0.12643	0.05127555	0.08217	-2.013	0.03230	T	.	.	0.061	0.01161	B	.;.	.;.	-1.429335	0.00340	0.006	0.26308200845364488	0.01254	0.00123	0.00769	N	AEFDGI	0.018149	0.00528	N	-2.01541304609239	0.00196	0.008400045	-2.0513431503479	0.00237	0.01046984	0.0605367096954669	0.15200	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.1	-5.88	0.02100	-3.477000	0.00510	.	.	-1.370000	0.01171	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.2254:0.0:0.7746	10.056	0.41419	584	0.69381	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.011078	0.000000	0.005435	0.023392	0.000000	0.025862	0.018293	0.011364	0.07143	811.46	33	chr19	39244094	.	T	C	811.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.003;DP=300;ExcessHet=0;FS=3.668;MLEAC=1;MLEAF=0.071;MQ=59.92;MQRankSum=0.775;QD=7.38;ReadPosRankSum=1.89;SOR=1.061	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,114,1616	6	0	1	0
chr19	39425264	39425264	G	A	exonic	PLEKHG2	.	nonsynonymous SNV	PLEKHG2:NM_001351693:exon20:c.G3599A:p.R1200K	Leukodystrophy and acquired microcephaly with or without dystonia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	741871	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.021	0.165035638058	0.0020	0.00259585	0.0016	0.0075	0.0010	0	0.0002	0.0015	0	0.0005	0.0014424	223	154602	rs31729	0.0010	0.0010	0.0009	0.0010	0.0053	0.0009	0.0009	0.0046	0.0044	0.0053	0.0012	0.0040	0	0.0002	0.0007	0.0008	0.0014	0.0007	0.0026	0.0026	0.0027	0.0024	0.0063	0.0024	0.0023	0.0057	0.0055	0.0063	0	0.0017	0.0037	0	9.411e-05	0	0.0012	0.0038	0	0.0	0.91255	D	0.117	0.36365	T	0.147	0.27870	B	0.035	0.22741	B	.	.	.	.	1	0.81001	D	.	.	.	-0.29	0.67712	T	0.05	0.06369	N	0.352	0.39356	-0.9754	0.36037	T	0.153	0.48309	T	7	0.0074777305	0.00170	T	0.165036	0.84400	D	0.021	0.04004	.	.	0.566047931302	0.56269	.	.	.	.	.	.	.	0.007	0.06517	T	-0.235026	0.15989	T	-0.106509	0.62888	T	0.0537906340563461	0.06154	T	0.29617	0.05481	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.33063	B	.;.	.;.	0.272418	0.06499	2.979	0.97234753091660608	0.32965	0.73078	0.35751	D	AEFDBHCI	0.155825	0.28108	N	-0.121579449224525	0.36453	2.107327	-6.93178607005032e-05	0.39715	2.358926	0.99998775611433	0.51787	0.67177	0.52595	0	0.643519	0.57511	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.23	3.08	0.34576	0.420000	0.20983	.	.	-0.103000	0.15852	0.999000	0.42656	1.000000	0.68203	0.571000	0.30675	0.1852:0.0:0.8148:0.0	8.524	0.32454	693	0.58582	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.005051	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	1048.49	37	chr19	39425264	.	G	A	1048.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.998;DP=268;ExcessHet=0;FS=0.907;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=-1.959;SOR=0.896	GT:AD:DP:GQ:PL	0/1:31,42:73:99:1059,0,679	6	0	1	0
chr19	39502857	39502857	G	A	exonic	DLL3	.	nonsynonymous SNV	DLL3:NM_016941:exon4:c.G452A:p.R151H,DLL3:NM_203486:exon4:c.G452A:p.R151H	Spondylocostal dysostosis 1, autosomal recessive, Autosomal recessive	10	1502	9	1	0	11	0.00364842	.	.	.	348886	not_provided|Syndactyly|Spondylocostal_dysostosis_1,_autosomal_recessive	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001159,Human_Phenotype_Ontology:HP:0001206,Human_Phenotype_Ontology:HP:0001236,MONDO:MONDO:0021002,MedGen:C0039075|MONDO:MONDO:0020692,MedGen:CN032975,OMIM:277300,Orphanet:2311	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.174	0.397350870972	.	.	0.0006	0	0	0	0	0.0008	0	0.0006	5.82e-05	9	154602	rs768310008	3.959e-05	6.977e-05	2.181e-05	5.797e-05	0.0035	3.045e-05	2.748e-05	0.0021	0.0017	3.936e-05	0	0	0	0	0.0035	7.833e-06	0.0001	0.0004	6.569e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.677	0.04469	T	0.167	0.32144	T	0.203	0.29776	B	0.026	0.20792	B	0.539171	0.11555	N	0.738070	0.75205	0.29628	N	1.26	0.31868	L	-2.36	0.88611	D	-0.53	0.16393	N	0.221	0.24758	-0.5302	0.67534	T	0.411	0.75957	T	9	0.10558531	0.19525	T	0.397351	0.93322	D	0.174	0.44019	0.516	0.61611	0.818448300927	0.81674	.	.	1.27933527	0.82483	0.829572975636	0.86496	D	0.203241	0.56166	T	-0.251469	0.13919	T	-0.273053	0.47510	T	0.0535422849706261	0.06111	T	0.79972	0.44511	T	0.07197476	0.15975	0.040523715	0.04399	0.07197476	0.15975	0.040523715	0.04399	-0.802	0.00871	T	0.08712667925166295	0.05086	0.128	0.27373	B	.;.	.;.	2.791694	0.36698	20.3	0.83156234692077224	0.14572	0.49131	0.28363	N	ALL	0.110231	0.21867	N	-0.941961866558352	0.09874	0.4692834	-0.930552622378665	0.11375	0.5791055	0.999999999999989	0.74766	0.652421	0.48094	0	0.596394	0.48810	0	0.64067	0.45733	0	0.636	0.56748	0	.	.	4.86	2.64	0.30504	0.454000	0.21539	.	.	0.567000	0.28720	0.002000	0.15269	1.000000	0.68203	0.022000	0.11911	0.0:0.1581:0.6777:0.1642	9.322	0.37132	814	0.42100	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002732	0.000000	0.002817	0.000000	0.000000	0.000000	0.006944	0.004065	0.08333	101.28	7	chr19	39502857	.	G	A	101.28	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.398;DP=124;ExcessHet=0;FS=2.808;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=0.7;SOR=0.707	GT:AD:DP:GQ:PL	0/0:29,0:29:81:0,81,1215	5	0	1	1
chr19	39502998	39502998	-	GCGGT	exonic	DLL3	.	frameshift insertion	DLL3:NM_016941:exon4:c.593_594insGCGGT:p.P202Afs*41,DLL3:NM_203486:exon4:c.593_594insGCGGT:p.P202Afs*41	Spondylocostal dysostosis 1, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	21867	Leukodystrophy_and_acquired_microcephaly_with_or_without_dystonia%3B|not_provided|Spondylocostal_dysostosis_1,_autosomal_recessive	MONDO:MONDO:0014766,MedGen:C4225213,OMIM:616763|MedGen:C3661900|MONDO:MONDO:0020692,MedGen:CN032975,OMIM:277300,Orphanet:2311	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	.	0.0005	0	0	3.84e-05	1	26028	rs1442149017	8.477e-05	8.277e-05	7.84e-05	9.132e-05	0.0003	7.164e-05	6.728e-05	0.0002	0.0001	0.0003	0.0002	8.498e-05	3.344e-05	0	0	8.035e-05	9.014e-05	6.783e-05	6.578e-05	7.223e-05	3.856e-05	9.432e-05	0.0004	3.52e-05	2.619e-05	7.279e-05	3.025e-05	7.241e-05	0	6.547e-05	0	0	0	0	4.417e-05	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	819.35	9	chr19	39502998	.	C	CGCGGT	819.35	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.21;DP=141;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=19.51;ReadPosRankSum=0.495;SOR=0.693	GT:AD:DP:GQ:PL	0/0:27,0:27:57:0,57,855	5	0	2	0
chr19	39532663	39532663	T	C	exonic	EID2B	.	nonsynonymous SNV	EID2B:NM_152361:exon1:c.A140G:p.E47G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0131206943416	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868278339	6.873e-07	6.84e-07	0	1.382e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.023	0.57104	D	0.989	0.62824	D	0.631	0.51788	P	.	.	.	.	1	0.08975	N	0.75	0.19020	N	1.22	0.37052	T	-4.66	0.79482	D	0.115	0.10340	-1.0636	0.10878	T	0.070	0.28642	T	9	0.2007677	0.36136	T	0.013121	0.32271	T	0.030	0.07022	0.198	0.11110	0.406120066682	0.40223	0.12071891244742598	0.11998	1.31982225195	0.83423	0.593643844128	0.52008	T	0.114356	0.43212	T	-0.208982	0.19521	T	-0.537964	0.18497	T	0.788138151168823	0.45568	D	0.353865	0.07983	T	0.09356475	0.21979	0.25266573	0.50900	0.09356475	0.21978	0.25266573	0.50899	-2.829	0.08453	T	.	.	0.076	0.06069	B	.	.	1.396206	0.18099	13.55	0.99605152835104283	0.74456	0.06986	0.13012	N	ALL	0.048299	0.08228	N	-0.58197349430479	0.19493	1.020601	-0.787437557354188	0.14803	0.7753858	0.999999999701527	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	2.23	1.13	0.19758	-0.171000	0.09872	.	.	-0.178000	0.10482	0.002000	0.15269	0.000000	0.08366	0.029000	0.12982	0.0:0.0:0.3097:0.6903	5.115	0.14162	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001011	0.000000	0.001359	0.000000	0.000000	0.000000	0.003067	0.000000	0.1429	1656.24	55	chr19	39532663	.	T	C	1656.24	.	AC=2;AF=0.143;AN=14;DP=242;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.11;SOR=0.97	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	6	1	0	0
chr19	39894111	39894111	C	T	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon13:c.G5650A:p.G1884S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00368281994172	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206162291	0.0006	0.0007	0.0006	0.0005	0.0212	0.0005	0.0005	0.0197	0.0191	0.0212	0.0014	0	5.948e-05	0	0.0004	3.565e-05	0.0013	0.0002	0.0058	0.0085	0.0059	0.0057	0.0205	0.0055	0.0054	0.0193	0.0189	0.0205	0	0.0016	0	0	0	0.0034	0.0001	0.0033	0.0010	.	.	.	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.7386	0.58524	T	0.326	0.69444	T	9	0.008196473	0.00186	T	0.003683	0.08496	T	.	.	.	.	0.276898752692	0.27294	.	.	.	.	0.683795571327	0.64814	T	0.006019	0.05459	T	-0.530282	0.00382	T	-0.519553	0.20339	T	0.0285270361979982	0.01765	T	0.652935	0.26315	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10642	B	.	.	1.470277	0.18941	14.01	0.98931592239940236	0.48750	0.01480	0.04926	N	AEFI	0.048306	0.08228	N	-0.545310874508605	0.20630	1.088995	-0.76449766190693	0.15366	0.8078197	2.90473458016278E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	1.92	1.92	0.24912	-0.381000	0.07475	.	.	0.420000	0.20791	0.000000	0.06391	0.000000	0.08366	0.062000	0.16114	0.0:0.6435:0.0:0.3565	4.002	0.09073	722	0.55239	von Willebrand factor, type D domain|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	889.44	99	chr19	39894111	.	C	T	889.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.687;DP=734;ExcessHet=0;FS=1.599;MLEAC=1;MLEAF=0.071;MQ=59.15;MQRankSum=-0.573;QD=8.31;ReadPosRankSum=-1.433;SOR=0.718	GT:AD:DP:GQ:PL	0/0:190,0:190:99:0,120,1800	6	0	1	0
chr19	40238946	40238946	C	A	exonic	AKT2	.	nonsynonymous SNV	AKT2:NM_001243028:exon7:c.G481T:p.D161Y,AKT2:NM_001330511:exon7:c.G667T:p.D223Y,AKT2:NM_001243027:exon8:c.G481T:p.D161Y,AKT2:NM_001626:exon8:c.G667T:p.D223Y	Diabetes mellitus, type II, Autosomal dominant;Hypoinsulinemic hypoglycemia with hemihypertrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.0376802994016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.048	0.56640	D	0.99	0.63424	D	0.798	0.58097	P	0.000000	0.84330	D	0.086699	1	0.81001	D	1.985	0.53793	M	1.67	0.27331	T	-8.42	0.97170	D	0.905	0.92550	-0.8473	0.52155	T	0.187	0.53782	T	10	0.8234671	0.81537	D	0.03768	0.57762	D	0.487	0.77528	0.658	0.79585	0.855188787804	0.85379	0.8799715672205642	0.87965	2.12843697498	0.95139	0.857842087746	0.90792	D	0.537184	0.84088	D	0.223107	0.76071	D	0.0827012	0.75759	D	0.995133340358734	0.86890	D	0.957404	0.84537	D	0.9293557	0.94173	0.8371789	0.90653	0.9293557	0.94174	0.8371789	0.90653	-14.927	0.95679	D	.	.	0.886	0.90664	P	.;.;.;.;.	.;.;.;.;.	5.538945	0.91944	32	0.99467771381138492	0.66154	0.99774	0.99369	D	AEFDBI	0.942576	0.94733	D	0.80089561001112	0.86161	8.797763	0.790092335690959	0.89097	9.836752	0.999999999731587	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	7.848000	0.85199	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:1.0:0.0:0.0	18.003	0.89125	867	0.32089	Protein kinase domain|Protein kinase domain|Protein kinase domain|Protein Kinase B beta, catalytic domain;.;.;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	37	chr19	40238946	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1064	6	1	0	0
chr19	40472737	40472737	C	T	exonic	SPTBN4	.	nonsynonymous SNV	SPTBN4:NM_020971:exon2:c.C116T:p.A39V	.	378	1140	4	0	0	4	0.00175131	.	.	.	704994	not_provided|SPTBN4-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.285	0.0586066660994	0.0020	0.00299521	0.0037	0.0009	0.0062	0	0.0013	0.0047	0.0056	0.0027	0.0025873	400	154602	rs150447798	0.0029	0.0029	0.0029	0.0029	0.0090	0.0028	0.0028	0.0070	0.0063	0.0005	0.0043	0.0022	2.528e-05	0.0008	0.0090	0.0031	0.0032	0.0019	0.0023	0.0023	0.0026	0.0019	0.0035	0.0021	0.0020	0.0031	0.0030	0.0006	0	0.0035	0.0029	0.0002	0.0003	0.0102	0.0035	0.0038	0.0010	0.044	0.47745	D	0.118	0.42436	T	0.672	0.41203	P	0.041	0.23986	B	0.032264	0.25053	U	0.311890	1	0.08975	N	1.15	0.29295	L	-0.98	0.76819	T	-0.78	0.21644	N	0.38	0.42149	-0.5419	0.67092	T	0.222	0.58588	T	10	0.0076540112	0.00174	T	0.058607	0.67376	D	0.285	0.60338	.	.	0.712887574675	0.71037	0.24937178606433558	0.24851	.	.	0.465637981892	0.34083	T	0.016004	0.45505	T	-0.319788	0.06916	T	-0.229796	0.51792	T	0.0315060213500809	0.02226	T	0.741926	0.38135	T	0.10724227	0.25358	0.1022628	0.24504	0.08626137	0.20044	0.085737295	0.19817	-5.235	0.39295	T	.	.	0.087	0.11317	B	.;.;.;.;.	.;.;.;.;.	1.913126	0.24300	16.34	0.99767781522230403	0.85666	0.21288	0.21349	N	AEFDBHCI	0.150887	0.27526	N	-0.16829900385486	0.34459	1.967121	-0.167780468374285	0.32730	1.864992	0.952533294052555	0.28021	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	6.03	6.03	0.97798	3.388000	0.52247	.	.	0.592000	0.32167	0.263000	0.24978	0.988000	0.31051	0.008000	0.08271	0.0:1.0:0.0:0.0	16.067	0.80693	735	0.53711	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.009606	0.010309	0.009511	0.026316	0.000000	0.008621	0.006173	0.000000	0.08333	540.27	34	chr19	40472737	.	C	T	540.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.38;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.121;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,105,1421:.	5	0	1	1
chr19	40616985	40616985	C	G	exonic	LTBP4	.	nonsynonymous SNV	LTBP4:NM_001042545:exon20:c.C2909G:p.P970R,LTBP4:NM_001042544:exon23:c.C3110G:p.P1037R,LTBP4:NM_003573:exon23:c.C2999G:p.P1000R	Cutis laxa, autosomal recessive, type IC, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	333581	LTBP4-related_disorder|not_provided|Cutis_laxa_with_severe_pulmonary,_gastrointestinal_and_urinary_anomalies	.|MedGen:C3661900|MONDO:MONDO:0013170,MedGen:C2750804,OMIM:613177,Orphanet:221145	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.447	0.170212400137	0.0014	0.000798722	0.0010	0.0020	0.0004	0	0.0002	0.0013	0.0022	0.0002	0.0009314	144	154602	rs200667255	0.0007	0.0007	0.0007	0.0007	0.0037	0.0007	0.0007	0.0031	0.0029	0.0037	0.0004	0.0221	0	7.491e-05	0.0023	0.0002	0.0021	0.0001	0.0013	0.0013	0.0012	0.0014	0.0022	0.0011	0.0011	0.0018	0.0017	0.0022	0	0.0007	0.0184	0	0.0004	0.0034	0.0004	0.0009	0.0002	0.16	0.26300	T	0.094	0.45318	T	1.0	0.90584	D	0.999	0.92359	D	0.001257	0.39669	N	0.000000	0.84458	0.81001	D	1.8	0.47472	L	-2.94	0.91851	D	-3.37	0.66665	D	0.736	0.76481	0.539	0.91089	D	0.808	0.93518	D	10	0.013317108	0.00283	T	0.170212	0.84782	D	0.447	0.74866	.	.	0.572442375005	0.56910	0.5289677841246028	0.52820	1.12242539896	0.78328	0.548874855042	0.45698	T	0.209983	0.85845	T	-0.210548	0.19303	T	-0.0816903	0.64779	T	0.0215077348182344	0.00854	T	0.665133	0.27420	T	0.2329617	0.46093	0.22365041	0.47251	0.20287381	0.42346	0.24895047	0.50455	-9.59	0.72650	D	.	.	0.138	0.30791	B	.;.;.	.;.;.	4.338118	0.66532	25.0	0.9981892826203792	0.90238	0.95975	0.66970	D	AEFDBI	0.618662	0.60439	D	0.364638425247273	0.59517	4.131733	0.377704692512233	0.60191	4.204188	0.99999994990409	0.74766	0.706298	0.61202	0	0.80507	0.99744	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.63	4.63	0.57175	3.710000	0.54589	.	.	0.599000	0.40250	0.941000	0.32681	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	16.404	0.83489	749	0.51929	EGF-like calcium-binding domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like calcium-binding domain|EGF-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.015152	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1551.44	34	chr19	40616985	.	C	G	1551.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.15;DP=305;ExcessHet=0;FS=0.701;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=0.666;SOR=0.608	GT:AD:DP:GQ:PL	0/1:53,65:118:99:1562,0,1422	6	0	1	0
chr19	40801359	40801359	G	A	exonic	EGLN2	.	nonsynonymous SNV	EGLN2:NM_053046:exon2:c.G787A:p.V263I,EGLN2:NM_080732:exon2:c.G787A:p.V263I	.	.	.	.	.	.	.	.	.	.	.	1816610	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.210	0.0779714671182	.	.	8.611e-06	0	0	0	0	1.582e-05	0	0	6.5e-06	1	154602	rs754101570	5.484e-06	1.026e-05	6.822e-06	4.133e-06	2.987e-05	2.36e-06	1.71e-06	1.94e-06	1.28e-06	2.987e-05	0	0	0	0	0	5.396e-06	0	1.159e-05	1.314e-05	1.313e-05	1.284e-05	1.344e-05	0.0004	2.18e-06	8.2e-07	7.279e-05	3.025e-05	0	0	0	0	0	0	0	0	0	0.0004	0.102	0.30235	T	0.395	0.15255	T	0.253	0.31246	B	0.041	0.23986	B	0.000978	0.40836	D	0.154806	0.997462	0.43910	D	0.55	0.14455	N	-1.98	0.85247	D	0.53	0.02808	N	0.276	0.31253	-0.5573	0.66507	T	0.334	0.70125	T	10	0.18038607	0.33219	T	0.077971	0.72896	D	0.210	0.50028	0.477	0.55502	0.83705614445	0.83550	0.5985398214111658	0.59784	0.585375640592	0.54180	0.677970647812	0.63977	T	0.253789	0.62435	T	-0.0679758	0.41650	T	-0.335419	0.40863	T	0.190951332449913	0.19900	T	0.653935	0.26417	T	0.09940674	0.23459	0.11548619	0.27879	0.09940674	0.23459	0.11548619	0.27878	-7.591	0.58248	D	.	.	0.102	0.27762	B	.;.;.;.	.;.;.;.	3.399898	0.47116	22.4	0.98566583245501427	0.43051	0.87449	0.46992	D	AEFDBHCI	0.411357	0.48186	N	-0.369293187767447	0.26569	1.451039	-0.269938525561987	0.29094	1.627293	0.999999800392268	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.657601	0.63696	0	.	.	4.16	4.16	0.48138	2.668000	0.46481	.	.	0.618000	0.50648	0.997000	0.40164	1.000000	0.68203	0.678000	0.33484	0.0:0.1726:0.8274:0.0	12.274	0.54039	508	0.75398	Prolyl 4-hydroxylase, alpha subunit;Prolyl 4-hydroxylase, alpha subunit;Prolyl 4-hydroxylase, alpha subunit;Oxoglutarate/iron-dependent dioxygenase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	876.44	36	chr19	40801359	.	G	A	876.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.79;DP=248;ExcessHet=0;FS=6.14;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=0.382;SOR=1.663	GT:AD:DP:GQ:PL	0/1:28,30:58:99:887,0,646	6	0	1	0
chr19	40846030	40846030	A	G	exonic	CYP2A6	.	nonsynonymous SNV	CYP2A6:NM_000762:exon6:c.T899C:p.I300T	Coumarin resistance, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3239629	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.133	0.0303691343264	7.7e-05	0.000199681	0.0002	0	0.0002	0.0001	0	0.0003	0.0011	0.0002	0.0002458	38	154602	rs148693084	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0001	0.0002	0	0.0003	1.874e-05	0.0002	0.0004	0.0005	0.0003	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0003	0.0002	9.721e-05	0	0.0005	0	0	0	0	0.0004	0.0005	0.0008	0.102	0.30235	T	0.125	0.35330	T	.	.	.	.	.	.	0.129615	0.18688	U	0.542019	0.987188	0.24543	N	.	.	.	-0.38	0.69027	T	-1.12	0.28906	N	0.228	0.25622	-0.8777	0.49943	T	0.195	0.54956	T	10	0.07926196	0.12729	T	0.030369	0.52693	D	0.133	0.36157	.	.	0.648220878664	0.64530	0.2522421240906263	0.25138	0.248346388218	0.27397	0.529774308205	0.43003	T	.	.	.	-0.330295	0.06089	T	-0.388279	0.34754	T	0.00675995647907257	0.00076	T	0.764224	0.39120	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.46893	B	.	.	2.296588	0.29380	18.10	0.88023895089501025	0.17659	0.28636	0.23608	N	AEFDBI	0.291890	0.40290	N	-0.742528645064168	0.14837	0.7425201	-0.750083870261629	0.15720	0.8281814	0.00332187610044662	0.10056	0.490419	0.18000	1	0.59043	0.45803	0	0.667716	0.60424	0	0.530356	0.10902	0	.	.	2.44	2.44	0.28875	0.471000	0.21811	.	.	0.496000	0.22519	0.000000	0.06391	0.555000	0.25489	0.003000	0.05239	1.0:0.0:0.0:0.0	9.821	0.40051	521	0.74284	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	4066.24	33	chr19	40846030	.	A	G	4066.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.33;DP=510;ExcessHet=0.3476;FS=3.392;MLEAC=2;MLEAF=0.143;MQ=59.99;MQRankSum=0;QD=11.45;ReadPosRankSum=0.699;SOR=0.562	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1361	5	0	2	0
chr19	41201309	41201309	A	G	exonic	CYP2S1	.	nonsynonymous SNV	CYP2S1:NM_030622:exon6:c.A913G:p.M305V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.0055276443132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.722e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	6.572e-06	6.567e-06	0	1.346e-05	6.555e-05	0	0	.	.	0	0	6.555e-05	0	0	0	0	0	0	0	0.034	0.44029	D	0.022	0.57587	D	0.0	0.02946	B	0.0	0.01387	B	0.162165	0.17629	N	0.517280	1	0.08975	N	-0.465	0.02725	N	5.11	0.78645	T	-0.52	0.16187	N	0.107	0.09207	-0.9034	0.47628	T	0.003	0.00864	T	10	0.3974025	0.55325	T	0.005528	0.14258	T	0.126	0.34673	0.677	0.81496	0.313518423057	0.30959	0.5668155306311461	0.56609	0.296135135414	0.31998	0.279010355473	0.07355	T	0.004166	0.04462	T	-0.408768	0.02025	T	-0.824943	0.01355	T	0.301468372344971	0.25065	T	0.376562	0.08996	T	0.10153626	0.23985	0.10325039	0.24768	0.10153626	0.23985	0.10325039	0.24767	0.794	0.00161	T	.	.	0.067	0.17700	B	.;.	.;.	0.557099	0.09254	6.039	0.88700589652053352	0.18185	0.01756	0.05527	N	AEFBI	0.035019	0.04437	N	-0.799241940734061	0.13330	0.6559036	-0.703898606901277	0.16863	0.8940831	0.00386370903301077	0.10312	0.67177	0.52595	0	0.627178	0.54094	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	5.2	0.539	0.16348	3.395000	0.52301	2.191000	0.31208	-0.127000	0.13314	1.000000	0.71638	0.011000	0.20116	0.043000	0.14563	0.2485:0.0:0.7515:0.0	10.165	0.42053	603	0.67726	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1899.83	33	chr19	41201309	.	A	G	1899.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.558;DP=338;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.452;SOR=0.71	GT:AD:DP:GQ:PL	0/1:61,80:141:99:1910,0,1505	6	0	1	0
chr19	41238557	41238557	A	C	exonic	AXL	.	nonsynonymous SNV	AXL:NM_001278599:exon5:c.A278C:p.Q93P,AXL:NM_001699:exon8:c.A1082C:p.Q361P,AXL:NM_021913:exon8:c.A1082C:p.Q361P	.	418	1099	5	0	0	5	0.00226963	.	.	.	2103433	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.723	0.0787851697069	0.0016	0.000599042	0.0016	0.0002	0.0006	0	0.0011	0.0024	0.0012	0.0008	0.0016623	257	154602	rs141929169	0.0022	0.0022	0.0023	0.0022	0.0027	0.0022	0.0022	0.0026	0.0026	0.0004	0.0004	0	0	0.0005	0.0026	0.0027	0.0017	0.0009	0.0015	0.0015	0.0015	0.0014	0.0027	0.0013	0.0012	0.0024	0.0022	0.0006	0	0.0001	0	0	0.0009	0.0034	0.0027	0.0005	0.0004	0.005	0.63226	D	0.05	0.48336	T	0.958	0.54977	D	0.744	0.55835	P	0.000896	0.41231	D	0.158496	0.784801	0.34312	D	2.25	0.63811	M	0.62	0.53302	T	-2.58	0.55662	D	0.824	0.81957	-0.6775	0.61488	T	0.123	0.42610	T	10	0.034747273	0.01694	T	0.078785	0.73084	D	0.723	0.90235	.	.	0.375737878683	0.37188	0.7722976252154031	0.77179	0.897822466154	0.70527	0.417935490608	0.27553	T	0.352414	0.71985	T	-0.346995	0.04918	T	-0.272367	0.47581	T	0.0450294477624199	0.04608	T	0.751425	0.38363	T	0.22808468	0.45521	0.36817202	0.62112	0.22808468	0.45521	0.36817202	0.62112	-9.752	0.73618	D	.	.	0.115	0.32827	B	.;.;.	.;.;.	4.312322	0.65933	24.9	0.9949787424050367	0.67859	0.85884	0.45070	D	AEFBI	0.538202	0.55569	D	0.296143700718182	0.55952	3.759438	0.296729277890973	0.55348	3.697969	0.999885096137743	0.44867	0.67177	0.52595	0	0.547309	0.14657	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.36	4.36	0.51643	2.163000	0.42004	9.081000	0.78717	0.677000	0.82338	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	11.153	0.47699	538	0.73119	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.006135	0.003788	0.07143	590.53	36	chr19	41238557	.	A	C	590.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.672;DP=236;ExcessHet=0;FS=1.007;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-1.014;SOR=0.906	GT:AD:DP:GQ:PL	0/1:28,29:57:99:601,0,625	6	0	1	0
chr19	41422298	41422298	A	G	exonic	BCKDHA	.	nonsynonymous SNV	BCKDHA:NM_000709:exon6:c.A781G:p.I261V,BCKDHA:NM_001164783:exon6:c.A781G:p.I261V	Maple syrup urine disease, type Ia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.398	0.0979027524118	.	.	.	.	.	.	.	.	.	.	.	.	.	rs897602354	2.052e-06	2.052e-06	4.084e-06	0	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.2	0.20381	T	0.246	0.24913	T	0.023	0.18885	B	0.05	0.25278	B	0.000116	0.50451	D	0.156037	0.999989	0.54805	D	1.22	0.30592	L	-4.09	0.96627	D	-0.95	0.25332	N	0.352	0.44379	0.377	0.88756	D	0.766	0.92044	D	10	0.33253923	0.50458	T	0.097903	0.76853	D	0.398	0.71242	0.508	0.60386	0.76601394661	0.76387	0.6178827678997076	0.61721	0.682462068016	0.61773	0.581635475159	0.50315	T	0.347143	0.71530	T	0.175401	0.71620	D	0.0141744	0.71253	D	0.373085290193558	0.27916	T	0.933007	0.74900	D	0.13221586	0.30793	0.15411972	0.36185	0.13221586	0.30793	0.15411972	0.36184	-5.595	0.42746	T	0.2039806143541252	0.27173	0.108	0.32226	B	.;.;.;.	.;.;.;.	3.309365	0.45468	22.1	0.99297682250116914	0.58505	0.94756	0.62222	D	AEFGBI	0.750430	0.69155	D	-0.109407570563642	0.36982	2.145184	0.0597922256371928	0.42547	2.575369	0.999999982170536	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	4.91	4.91	0.63897	3.209000	0.50824	9.149000	0.78942	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8286:0.1714:0.0:0.0	9.902	0.40520	856	0.34373	.;Dehydrogenase, E1 component;Dehydrogenase, E1 component;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1485.46	36	chr19	41422298	.	A	G	1485.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.38;DP=325;ExcessHet=0;FS=0.612;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=0.684;SOR=0.616	GT:AD:DP:GQ:PL	0/1:73,72:145:99:1496,0,1773	6	0	1	0
chr19	41621759	41621759	A	T	exonic	CEACAM4	.	nonsynonymous SNV	CEACAM4:NM_001362493:exon2:c.T74A:p.V25D,CEACAM4:NM_001362495:exon3:c.T434A:p.V145D,CEACAM4:NM_001817:exon3:c.T434A:p.V145D	.	409	1110	2	0	1	3	0.00090009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.0012161822642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.033	0.55341	D	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.39	0.34934	L	5.24	0.01150	T	0.02	0.06739	N	0.257	0.35408	-0.9230	0.45141	T	0.002	0.00615	T	9	0.07355431	0.11128	T	0.001216	0.01583	T	0.007	0.00512	0.437	0.48993	0.107399877778	0.10242	0.33770240976302446	0.33683	0.0390414745784	0.04153	0.353566288948	0.18445	T	9.56E-4	0.00501	T	-0.314354	0.07371	T	-0.689324	0.06428	T	0.0549453909089964	0.06348	T	.	.	.	0.06719068	0.14526	0.07130427	0.15254	0.06719068	0.14526	0.07130427	0.15254	-3.599	0.17842	T	.	.	0.107	0.30318	B	.;.	.;.	0.037489	0.04546	1.237	0.50957148333705182	0.04476	0.00249	0.01374	N	AEFDBI	0.041257	0.06249	N	-1.51479152674632	0.01752	0.07671975	-1.61233519395972	0.01582	0.07173533	0.999884672001959	0.44867	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.64	-3.14	0.04928	-0.994000	0.03827	-20.000000	0.00162	-1.126000	0.01464	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3842:0.0:0.3634:0.2524	2.060	0.03371	845	0.36510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	1272.32	42	chr19	41621759	.	A	T	1272.32	.	AC=2;AF=0.143;AN=14;DP=215;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.29;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,996	6	1	0	0
chr19	41715105	41715105	G	A	exonic	CEACAM5	.	nonsynonymous SNV	CEACAM5:NM_001291484:exon3:c.G559A:p.V187I,CEACAM5:NM_001308398:exon3:c.G559A:p.V187I,CEACAM5:NM_004363:exon3:c.G559A:p.V187I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00193257350078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	3.826e-05	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.19782	T	0.434	0.18903	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.04	0.03121	T	-0.46	0.14978	N	0.127	0.13626	-1.0047	0.28547	T	0.020	0.08220	T	9	0.17976257	0.33127	T	0.001933	0.03430	T	0.060	0.17295	0.39	0.41279	0.48461828368	0.48093	0.0486047421989362	0.04803	0.433725140529	0.43520	0.365836381912	0.20233	T	0.007736	0.07126	T	-0.354259	0.04465	T	-0.746645	0.03618	T	0.322085946798325	0.25907	T	0.0751925	0.00760	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.11893	B	.;.;.;.;.	.;.;.;.;.	0.262412	0.06410	2.876	0.98734914312658328	0.45408	0.02193	0.06408	N	AEFBI	0.045653	0.07490	N	-0.555203434777982	0.20321	1.07036	-0.699277418910056	0.16978	0.9007058	4.11150784611805E-4	0.06899	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	2.94	2.94	0.33188	0.940000	0.28589	-1.930000	0.04479	0.498000	0.22619	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.0:0.0:1.0:0.0	9.655	0.39085	840	0.37365	.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	3100.44	47	chr19	41715105	.	G	A	3100.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.433;DP=554;ExcessHet=0;FS=4.209;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=-0.428;SOR=0.865	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1271	6	0	1	0
chr19	41837277	41837277	G	A	exonic	LYPD4	.	nonsynonymous SNV	LYPD4:NM_001291419:exon5:c.C502T:p.H168Y,LYPD4:NM_173506:exon5:c.C607T:p.H203Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	.	0.0079	0.00599042	0.0019	0.0214	0.0007	0	0	4.496e-05	0.0022	0	0.0018628	288	154602	rs34537433	0.0006	0.0006	0.0007	0.0006	0.0215	0.0006	0.0006	0.0202	0.0197	0.0215	0.0011	0	2.519e-05	0	0.0012	2.698e-05	0.0013	6.956e-05	0.0060	0.0060	0.0062	0.0059	0.0215	0.0057	0.0056	0.0204	0.0199	0.0215	0	0.0010	0	0	0	0	1.47e-05	0.0043	0	0.012	0.54683	D	0.041	0.50514	D	0.358	0.35101	B	0.06	0.27215	B	0.605831	0.05673	N	1.231680	1	0.08975	N	0.805	0.20218	L	-0.42	0.69536	T	-1.58	0.38151	N	0.217	0.24260	-0.9626	0.38684	T	0.071	0.28969	T	10	0.0030061007	0.00049	T	.	.	.	0.085	0.24743	.	.	0.222439326576	0.21863	0.3113542619823079	0.31048	.	.	0.332318335772	0.15285	T	0.005851	0.05296	T	-0.536998	0.00349	T	-0.527217	0.19565	T	0.00550446276595301	0.00060	T	0.726827	0.34112	T	0.047673464	0.08188	0.107079946	0.25773	0.047673464	0.08187	0.107079946	0.25772	-4.524	0.33489	T	.	.	0.102	0.19679	B	.;.;.	.;.;.	2.488736	0.32106	18.94	0.9849343615684979	0.42120	0.05968	0.11927	N	AEFDGBI	0.045781	0.07526	N	-0.551198336106179	0.20447	1.077888	-0.582771957398362	0.19943	1.072237	0.0362339768400728	0.14236	0.603402	0.35316	0	0.563428	0.19063	0	0.547309	0.15389	0	0.663205	0.64265	0	.	.	4.26	2.11	0.26299	1.020000	0.29629	4.120000	0.41968	0.676000	0.76740	0.062000	0.21832	1.000000	0.68203	0.857000	0.40602	0.1035:0.0:0.6966:0.2	5.315	0.15158	744	0.52588	.;Ly-6 antigen/uPA receptor-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001011	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	661.83	25	chr19	41837277	.	G	A	661.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.72;DP=204;ExcessHet=0;FS=2.212;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=1.41;SOR=0.426	GT:AD:DP:GQ:PL	0/1:30,29:59:99:672,0,758	6	0	1	0
chr19	41838919	41838919	T	G	exonic	LYPD4	.	nonsynonymous SNV	LYPD4:NM_173506:exon3:c.A173C:p.Q58P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0078	0.00599042	0.0019	0.0215	0.0007	0	0	4.496e-05	0.0022	0	0.0018628	288	154602	rs112654847	0.0006	0.0006	0.0007	0.0006	0.0215	0.0006	0.0006	0.0202	0.0197	0.0215	0.0011	0	0	0	0.0012	2.698e-05	0.0013	6.956e-05	0.0060	0.0060	0.0062	0.0058	0.0214	0.0057	0.0056	0.0202	0.0198	0.0214	0	0.0010	0	0	0	0	1.471e-05	0.0043	0	.	.	.	0.284	0.21411	T	0.0	0.02946	B	0.0	0.01387	B	0.403615	0.04549	N	1.432480	1	0.08975	N	0.345	0.11182	N	.	.	.	.	.	.	0.343	0.38438	-0.9230	0.45141	T	0.003	0.00961	T	10	0.0040008426	0.00077	T	.	.	.	.	.	.	.	0.0138822411134	0.00435	0.5182895174362366	0.51751	.	.	0.242473870516	0.03017	T	0.003905	0.03313	T	-0.681531	0.00047	T	-0.734829	0.04112	T	0.000778292453893203	0.00007	T	0.249675	0.03740	T	0.09345117	0.21950	0.106226414	0.25550	0.09345117	0.21950	0.106226414	0.25549	-4.576	0.31869	T	.	.	0.081	0.08465	B	.	.	-0.030556	0.04076	0.952	0.74602257548543272	0.10757	0.01049	0.03910	N	AEFBI	0.050835	0.08923	N	-1.60051521131034	0.01261	0.05490749	-1.61785341348867	0.01550	0.07025785	0.25055041702809	0.18675	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.97	-4.77	0.02985	-1.207000	0.03118	-3.680000	0.02610	-0.920000	0.02202	0.002000	0.15269	0.000000	0.08366	0.692000	0.33898	0.0:0.2181:0.2964:0.4855	5.092	0.14046	754	0.51307	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1288.49	33	chr19	41838919	.	T	G	1288.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.097;DP=421;ExcessHet=0;FS=2.701;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.12;ReadPosRankSum=-0.545;SOR=0.935	GT:AD:DP:GQ:PL	0/1:114,67:181:99:1299,0,2607	6	0	1	0
chr19	41895484	41895484	C	A	exonic	ARHGEF1	.	nonsynonymous SNV	ARHGEF1:NM_198977:exon11:c.C914A:p.P305Q,ARHGEF1:NM_004706:exon12:c.C1013A:p.P338Q,ARHGEF1:NM_199002:exon12:c.C1058A:p.P353Q	.	.	.	.	.	.	.	.	0.9471	0.736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0633676471881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.55530	D	0.149	0.92824	T	0.932	0.77913	P	0.451	0.73157	P	0.319988	0.14287	N	0.649781	0.589188	0.31034	N	2.19	0.61577	M	-0.02	0.65931	T	-1.7	0.40468	N	0.269	0.46180	-0.4152	0.71545	T	0.316	0.68549	T	10	0.18871874	0.34440	T	0.063368	0.68947	D	0.118	0.32913	0.29	0.25081	0.762267092428	0.76010	0.2962339415622848	0.29536	0.712814376389	0.61783	0.374560117722	0.21483	T	0.274255	0.64674	T	-0.0945361	0.37327	T	-0.373571	0.36471	T	0.75022566318512	0.43297	D	0.756024	0.57175	T	0.108529486	0.25661	0.11251137	0.27149	0.108529486	0.25661	0.11251137	0.27148	-5.031	0.37981	T	.	.	0.099	0.16538	B	.;.;.;.;.;.	.;.;.;.;.;.	4.107508	0.61298	24.3	0.99222660045443811	0.55963	0.94462	0.61243	D	AEFDBI	0.346217	0.44110	N	0.426966953263591	0.62910	4.514926	0.426803065777087	0.63241	4.553959	0.999999961312965	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.46	4.46	0.53567	1.126000	0.30958	2.098000	0.30587	0.599000	0.40250	0.063000	0.21864	0.197000	0.23541	0.953000	0.50222	0.0:1.0:0.0:0.0	12.869	0.57345	668	0.61153	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	11	chr19	41895484	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=173;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1141	6	1	0	0
chr19	41908505	41908505	A	G	exonic	ERFL	.	nonsynonymous SNV	ERFL:NM_001365103:exon6:c.T788C:p.L263P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31287235	0.48743	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407359	0.10471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.26451	B	.	.	4.466985	0.69576	25.4	0.80424789663363949	0.13196	0.71734	0.35141	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999768883739223	0.42728	0.060467	0.00899	0	0.09434	0.02614	0	0.074216	0.02223	0	0.050693	0.00103	0	0.760335	0.45099	3.01	3.01	0.33872	3.371000	0.52107	11.000000	0.84761	0.679000	0.82387	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	1.0:0.0:0.0:0.0	9.402	0.37603	654	0.62520	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	33.85	1	chr19	41908505	.	A	G	33.85	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.967;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,13	3	0	1	3
chr19	42095395	42095395	A	G	exonic	POU2F2	.	nonsynonymous SNV	POU2F2:NM_001207025:exon11:c.T1022C:p.I341T,POU2F2:NM_001207026:exon11:c.T1022C:p.I341T,POU2F2:NM_001247994:exon11:c.T974C:p.I325T,POU2F2:NM_002698:exon11:c.T974C:p.I325T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.931	0.491804921791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.997	0.77913	D	0.977	0.74454	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.825	0.47900	L	-4.25	0.97054	D	-4.24	0.76015	D	0.845	0.86297	1.045	0.98021	D	0.926	0.97544	D	10	0.92589384	0.91938	D	0.491805	0.95011	D	0.931	0.98378	0.762	0.89053	0.979705899228	0.97949	0.9814169942772814	0.98133	2.91012196725	0.99100	0.8950933218	0.95878	D	0.808246	0.99683	D	0.525352	0.95038	D	0.516856	0.94964	D	0.994730926619758	0.86208	D	0.952605	0.82322	D	0.7007408	0.78097	0.57755935	0.75522	0.7007408	0.78099	0.57755935	0.75523	-12.58	0.87561	D	.	.	0.997	0.97319	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.697003	0.75326	26.3	0.99835600142926961	0.91714	0.97930	0.78210	D	AEFBI	0.935600	0.93069	D	0.708200846287782	0.80171	7.235341	0.648994966838081	0.78535	6.895993	0.99999985343175	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.667671	0.60360	0	0.699875	0.68795	0	.	.	3.99	3.99	0.45527	9.263000	0.94779	11.242000	0.90457	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	12.324	0.54323	846	0.36215	.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	116.63	43	chr19	42095395	.	A	G	116.63	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.091;DP=314;ExcessHet=0.3476;FS=68.826;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=0.348;SOR=6.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1131:.	5	0	2	0
chr19	42095399	42095399	C	G	exonic	POU2F2	.	nonsynonymous SNV	POU2F2:NM_001207025:exon11:c.G1018C:p.V340L,POU2F2:NM_001207026:exon11:c.G1018C:p.V340L,POU2F2:NM_001247994:exon11:c.G970C:p.V324L,POU2F2:NM_002698:exon11:c.G970C:p.V324L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.939	0.359661340362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.998	0.77913	D	0.989	0.78396	D	0.000001	0.84330	D	0.000000	1	0.81001	D	3.015	0.86134	M	-4.0	0.96339	D	-3.0	0.62343	D	0.826	0.82862	1.095	0.99469	D	0.951	0.98412	D	10	0.89701736	0.89057	D	0.359661	0.92479	D	0.939	0.98672	0.557	0.67547	0.949703262491	0.94917	0.9550304941655845	0.95488	2.60485491865	0.98196	0.885964512825	0.94748	D	0.792883	0.99163	D	0.495984	0.94173	D	0.47467	0.94096	D	0.993351914106228	0.84121	D	0.988801	0.96255	D	0.74310046	0.80470	0.69191414	0.81869	0.74310046	0.80471	0.69191414	0.81870	-12.988	0.89314	D	.	.	1.000	0.99395	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.327483	0.89412	30	0.99782441860528814	0.86867	0.97748	0.76847	D	AEFBI	0.946708	0.95645	D	0.844617874197824	0.88800	9.71644	0.738513627196856	0.85298	8.538503	0.999999999650972	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.667671	0.60360	0	0.699875	0.68795	0	.	.	3.99	3.99	0.45527	7.854000	0.85267	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	15.399	0.74539	846	0.36215	.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	187.63	45	chr19	42095399	.	C	G	187.63	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.118;DP=360;ExcessHet=1.383;FS=105.92;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=0.184;SOR=7.168	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:81,0:81:24:.:.:0,24,1896:.	3	0	3	1
chr19	42225031	42225031	G	A	exonic	ZNF526	.	nonsynonymous SNV	ZNF526:NM_001314033:exon3:c.G628A:p.E210K,ZNF526:NM_133444:exon3:c.G628A:p.E210K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.00379068814862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.18246	T	0.004	0.74150	D	0.999	0.77913	D	0.94	0.67560	D	0.000001	0.62929	D	0.000000	0.997448	0.43893	D	2.045	0.56016	M	1.65	0.27650	T	-0.83	0.22727	N	0.269	0.30461	-0.9629	0.38625	T	0.139	0.45697	T	10	0.19311449	0.35067	T	0.003791	0.08837	T	0.140	0.37593	0.342	0.33464	0.398727352345	0.39489	0.2642282534640418	0.26335	1.09148213951	0.77447	0.678910255432	0.64111	T	0.013423	0.11615	T	-0.111363	0.34542	T	-0.397742	0.33646	T	0.775411822728243	0.44768	D	0.851615	0.53551	D	0.27614763	0.50677	0.2615007	0.51928	0.27614763	0.50677	0.2615007	0.51927	-9.402	0.70248	D	0.18243310999850765	0.23570	0.518	0.65395	A	.	.	4.572424	0.72161	25.8	0.99924265320389249	0.98980	0.53712	0.29438	D	AEFBCI	0.202669	0.32924	N	0.327069220426997	0.57542	3.921896	0.268168055692457	0.53689	3.536712	0.999998532847852	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.52	4.52	0.54797	0.535000	0.22822	9.881000	0.82199	0.672000	0.70159	0.017000	0.19353	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.539	0.84227	779	0.47767	Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1382.63	34	chr19	42225031	.	G	A	1382.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.534;DP=286;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-0.546;SOR=0.77	GT:AD:DP:GQ:PL	0/1:42,56:98:99:1393,0,993	6	0	1	0
chr19	42271989	42271989	G	A	exonic	CIC	.	nonsynonymous SNV	CIC:NM_001304815:exon2:c.G206A:p.R69Q,CIC:NM_001379480:exon2:c.G206A:p.R69Q,CIC:NM_001379482:exon2:c.G206A:p.R69Q	.	381	1087	50	4	0	58	0.0259857	.	.	.	2752947	Intellectual_disability,_autosomal_dominant_45|CIC-related_disorder	MONDO:MONDO:0030910,MedGen:C4539848,OMIM:617600|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	0.00419329	0	0	.	.	0	0	.	.	0.0036115	94	26028	rs188464728	0.0030	0.0019	0.0030	0.0029	0.0244	0.0028	0.0027	0.0178	0.0155	0.0007	0.0035	0.0050	0.0001	0.0013	0.0244	0.0030	0.0032	0.0187	0.0026	0.0026	0.0025	0.0028	0.0201	0.0024	0.0023	0.0168	0.0156	0.0004	0	0.0036	0.0026	0.0010	0.0008	0.0136	0.0029	0.0038	0.0201	.	.	.	0.409	0.14588	T	.	.	.	.	.	.	.	.	.	.	0.999967	0.18878	N	.	.	.	-5.0	0.98525	D	.	.	.	0.074	0.04790	.	.	.	.	.	.	.	0.0054611266	0.00120	T	.	.	.	.	.	.	.	0.58454684225	0.58127	.	.	.	.	.	.	.	0.003292	0.31165	T	-0.326754	0.06361	T	-0.247063	0.50106	T	.	.	.	0.541546	0.26514	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.01859	B	.;.	.;.	0.516583	0.08853	5.633	0.80446239995739754	0.13207	0.31796	0.24427	N	AEFBCI	0.051563	0.09122	N	.	.	.	.	.	.	0.999988671698017	0.51787	0.722319	0.85440	0	0.698795	0.70079	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.08	-5.5	0.02373	-0.685000	0.05269	-1.411000	0.05502	-0.874000	0.02518	0.000000	0.06391	0.000000	0.08366	0.425000	0.27339	0.5491:0.1939:0.2569:0.0	6.592	0.21847	662	0.61715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	264.63	32	chr19	42271989	.	G	A	264.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.39;DP=192;ExcessHet=0;FS=1.74;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.705;SOR=0.991	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1047	6	0	1	0
chr19	42287886	42287886	C	T	exonic	CIC	.	nonsynonymous SNV	CIC:NM_001379484:exon6:c.C842T:p.A281V,CIC:NM_001379485:exon6:c.C842T:p.A281V,CIC:NM_015125:exon6:c.C842T:p.A281V,CIC:NM_001304815:exon7:c.C3569T:p.A1190V,CIC:NM_001379480:exon7:c.C3569T:p.A1190V,CIC:NM_001379482:exon7:c.C3569T:p.A1190V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0229482169628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.179	0.30436	T	0.141	0.27581	B	0.019	0.18783	B	.	.	.	.	0.592935	0.32472	D	-1.1	0.00987	N	-5.11	0.98715	D	-1.27	0.31981	N	0.152	0.15609	-0.9315	0.43918	T	0.082	0.32237	T	8	0.08637345	0.14674	T	0.022948	0.45881	T	0.023	0.04649	0.158	0.06178	0.614043529789	0.61093	0.8018469463543568	0.80138	1.54599419813	0.87825	0.639968156815	0.58560	T	0.019834	0.43002	T	0.0831202	0.62405	D	-0.11838	0.61936	T	0.256219825988137	0.23149	T	0.857514	0.54691	D	0.058729026	0.11850	0.09418659	0.22283	0.058729026	0.11850	0.09418659	0.22283	-6.272	0.48500	T	.	.	0.102	0.18122	B	.;.;.	.;.;.	4.117540	0.61514	24.3	0.99740060433149791	0.83409	0.80489	0.40113	D	AEFBI	0.123372	0.23894	N	-0.0860837107894081	0.38002	2.219213	0.0761997521282363	0.43353	2.638943	0.999934137006888	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.59	4.59	0.56297	1.249000	0.32441	4.071000	0.41665	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.8974:0.0:0.1026	8.509	0.32367	645	0.63593	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	39	chr19	42287886	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1211	6	1	0	0
chr19	42309804	42309804	C	T	exonic	PRR19	.	nonsynonymous SNV	PRR19:NM_199285:exon2:c.C220T:p.R74W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00773099046008	0.0008	0.000798722	0.0002	0.0022	0.0003	0	0	0	0	0	0.000207	32	154602	rs141255938	8.21e-05	8.345e-05	8.577e-05	7.839e-05	0.0016	7.002e-05	6.553e-05	0.0012	0.0011	0.0016	0.0001	0	0	0	0	3.597e-05	0.0003	4.638e-05	0.0006	0.0006	0.0007	0.0006	0.0021	0.0005	0.0005	0.0018	0.0016	0.0021	0	6.533e-05	0	0	0	0	8.818e-05	0.0009	0	0.153	0.24372	T	0.0	0.92824	D	0.045	0.24389	B	0.016	0.21540	B	0.024656	0.26225	N	0.185068	0.681002	0.33234	D	0.945	0.23706	L	.	.	.	-5.1	0.83027	D	0.28	0.31702	-0.9701	0.37179	T	0.070	0.28675	T	9	0.01498729	0.00315	T	0.007731	0.20510	T	0.033	0.08068	.	.	0.208000267992	0.20380	0.25162073370253846	0.25076	0.168707716758	0.19022	0.301112532616	0.10566	T	0.156171	0.49823	T	-0.421712	0.01668	T	-0.384704	0.35171	T	0.0642688067598074	0.07823	T	0.786121	0.43772	T	0.21285978	0.43650	0.23788248	0.49097	0.21285978	0.43650	0.23788248	0.49096	-4.784	0.36004	T	.	.	0.110	0.21163	B	.;.;.;.	.;.;.;.	2.370842	0.30420	18.43	0.99426254532181468	0.64032	0.59400	0.30905	D	AEFDBI	0.409549	0.48078	N	-0.285478514119907	0.29708	1.649919	-0.164256154643064	0.32864	1.873957	0.00477232843198404	0.10707	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.73	2.51	0.29435	0.877000	0.27756	-0.061000	0.12424	0.587000	0.30956	0.998000	0.41325	0.127000	0.22962	0.998000	0.85391	0.2097:0.6687:0.0:0.1216	4.688	0.12146	599	0.68140	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	769.83	35	chr19	42309804	.	C	T	769.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.7;DP=240;ExcessHet=0;FS=0.997;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=1.1;SOR=0.922	GT:AD:DP:GQ:PL	0/1:32,27:59:99:780,0,793	6	0	1	0
chr19	42313393	42313393	C	T	exonic	TMEM145	.	nonsynonymous SNV	TMEM145:NM_001366910:exon1:c.C17T:p.A6V,TMEM145:NM_173633:exon1:c.C17T:p.A6V	.	353	1167	1	1	0	3	0.0012837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	.	.	.	0.0076	0	0	0	.	0.0268	0	0.0026	8.41e-05	13	154602	rs755813257	0.0003	0.0003	0.0002	0.0003	0.0059	0.0002	0.0002	0.0039	0.0032	0.0002	0.0003	0.0024	0	6.126e-05	0.0059	0.0002	0.0004	0.0004	0.0003	0.0003	0.0002	0.0004	0.0008	0.0002	0.0002	0.0005	0.0004	4.814e-05	0	0.0008	0.0032	0	0	0.0137	0.0003	0.0009	0	0.0	0.91255	D	0.332	0.34716	T	0.959	0.55135	D	0.499	0.47621	P	0.201597	0.16586	U	0.447699	0.960148	0.26158	N	1.1	0.28011	L	0.79	0.51474	T	-0.17	0.09627	N	0.043	0.03726	-1.0589	0.12032	T	0.075	0.30117	T	10	0.0053667426	0.00118	T	.	.	.	0.083	0.24192	0.203	0.11797	0.528461186488	0.52492	0.5753231793253366	0.57461	0.472231572563	0.46459	0.819665670395	0.84977	D	0.008876	0.08119	T	-0.397767	0.02395	T	-0.442699	0.28506	T	0.0864389800400294	0.10790	T	0.671933	0.28057	T	0.12830727	0.30001	0.13745068	0.32854	0.12830727	0.30001	0.13745068	0.32853	-5.342	0.40357	T	.	.	0.183	0.39630	B	.;.	.;.	2.005171	0.25481	16.78	0.99318561823613349	0.59279	0.03269	0.08306	N	ALL	0.091806	0.18592	N	-0.177761224857866	0.34061	1.939714	-0.207888318049893	0.31252	1.76689	0.999999999989693	0.74766	0.685219	0.55550	0	0.748881	0.99253	0	0.674405	0.61402	0	0.554799	0.18163	0	.	.	2.57	2.57	0.29928	-0.183000	0.09707	0.208000	0.15929	-0.360000	0.05510	0.009000	0.18154	0.961000	0.29326	0.924000	0.46004	0.0:1.0:0.0:0.0	8.818	0.34168	571	0.70397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015278	0.007042	0.028986	0.035294	0.000000	0.000000	0.000000	0.000000	0.07143	259.83	11	chr19	42313393	.	C	T	259.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.489;DP=147;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=0;SOR=0.646	GT:AD:DP:GQ:PL	0/0:26,0:26:72:0,72,1080	6	0	1	0
chr19	42356932	42356932	G	A	exonic	MEGF8	.	nonsynonymous SNV	MEGF8:NM_001410:exon26:c.G4580A:p.R1527H,MEGF8:NM_001271938:exon27:c.G4781A:p.R1594H	Carpenter syndrome 2, Autosomal recessive	427	1070	24	1	0	26	0.0120037	.	.	.	689093	not_provided|MEGF8-related_Carpenter_syndrome	MedGen:C3661900|MONDO:MONDO:0013998,MedGen:C3554247,OMIM:614976,Orphanet:65759	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.256	.	0.0005	0.00159744	0.0026	0.0001	0.0013	0.0002	0	0.0011	0.0017	0.0134	0.0016947	262	154602	rs141153248	0.0012	0.0012	0.0009	0.0016	0.0105	0.0012	0.0012	0.0099	0.0097	0.0002	0.0007	0.0013	2.524e-05	3.767e-05	0.0056	0.0006	0.0018	0.0105	0.0008	0.0008	0.0008	0.0008	0.0089	0.0007	0.0006	0.0068	0.0061	0.0002	0	0.0007	0.0009	0.0002	9.413e-05	0.0034	0.0007	0.0019	0.0089	0.143	0.29823	T	0.084	0.41239	T	0.983	0.68779	D	0.674	0.53247	P	0.187750	0.16930	N	0.566253	0.972712	0.25586	N	0.345	0.11182	N	0.02	0.62318	T	-1.41	0.35399	N	0.376	0.41853	-0.8539	0.51696	T	0.170	0.51085	T	10	0.009688765	0.00218	T	.	.	.	0.256	0.56694	.	.	0.279809986126	0.27602	0.32000660293560446	0.31913	1.05125465116	0.76159	0.461723268032	0.33547	T	0.090227	0.38540	T	-0.399944	0.02317	T	-0.337873	0.40585	T	0.0136652380643093	0.00254	T	0.674133	0.28269	T	0.034723204	0.03952	0.032070026	0.01886	0.031214708	0.02919	0.037747607	0.03493	-6.967	0.53792	T	.	.	0.095	0.15025	B	.;.	.;.	3.787117	0.54485	23.5	0.99895656136967415	0.96895	0.64004	0.32268	D	AEFBI	0.109442	0.21737	N	0.0566823352534436	0.44451	2.718874	0.107243054330615	0.44917	2.764371	0.0408702364229687	0.14459	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.32	4.29	0.50359	2.516000	0.45181	3.993000	0.41005	-0.106000	0.15538	0.902000	0.31475	1.000000	0.68203	0.981000	0.58702	0.1697:0.1602:0.6701:0.0	5.825	0.17806	551	0.72115	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010595	0.000000	0.005435	0.005848	0.000000	0.008621	0.033951	0.011364	0.1429	2128.32	33	chr19	42356932	.	G	A	2128.32	.	AC=2;AF=0.143;AN=14;DP=252;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=28.38;SOR=0.892	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1000	6	1	0	0
chr19	42754362	42754362	C	A	exonic	PSG8	.	nonsynonymous SNV	PSG8:NM_001130168:exon4:c.G848T:p.S283I,PSG8:NM_001130167:exon5:c.G1214T:p.S405I,PSG8:NM_182707:exon5:c.G1214T:p.S405I	.	11	1510	1	0	0	1	0.000331016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00067063572592	0.0002	0.000399361	0.0003	0	0.0004	0	0	0.0004	0	0.0002	0.0002458	38	154602	rs200488282	0.0003	0.0003	0.0002	0.0003	0.0007	0.0002	0.0002	0.0002	0.0002	0	0.0002	0.0041	0	3.744e-05	0.0007	0.0002	0.0005	0.0003	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	7.222e-05	0	0.0003	0.0040	0	0	0	0.0004	0	0	0.141	0.35918	T	0.097	0.39190	T	0.002	0.15535	B	0.008	0.24394	B	.	.	.	.	1	0.08975	N	1.225	0.30651	L	2.61	0.13095	T	-2.07	0.57920	N	0.104	0.08786	-0.9634	0.38527	T	0.023	0.09832	T	9	0.008195132	0.00186	T	6.71E-4	0.00383	T	0.011	0.01250	.	.	0.0297737177859	0.01360	0.05160279279883964	0.05102	0.00656387583243	0.00574	0.328782379627	0.14750	T	0.005934	0.05373	T	-0.56439	0.00239	T	-0.703545	0.05634	T	0.0145685278649096	0.00299	T	0.467453	0.17633	T	0.08160457	0.18760	0.07244502	0.15630	0.08160457	0.18760	0.07244502	0.15630	-4.847	0.42398	T	.	.	0.07	0.08129	B	.;.;.;.	.;.;.;.	-0.692747	0.01337	0.074	0.28839306725678643	0.01500	0.00239	0.01331	N	AEFI	0.026628	0.02034	N	-1.7335852550797	0.00729	0.03149382	-1.82795332351125	0.00674	0.02997004	2.04973537632182E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.62	-1.25	0.08920	-1.787000	0.01861	-3.200000	0.02976	-3.091000	0.00125	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2599:0.5561:0.0:0.1841	2.831	0.05162	433	0.80627	.;.;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	191.44	35	chr19	42754362	.	C	A	191.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.1;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=1.86;SOR=0.941	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1300	6	0	1	0
chr19	42877933	42877933	C	T	exonic	PSG1	.	nonsynonymous SNV	PSG1:NM_001184825:exon2:c.G410A:p.R137H,PSG1:NM_001184826:exon2:c.G410A:p.R137H,PSG1:NM_001297773:exon2:c.G410A:p.R137H,PSG1:NM_001330524:exon2:c.G410A:p.R137H,PSG1:NM_006905:exon2:c.G410A:p.R137H	.	.	.	.	.	.	.	.	.	.	.	2264219	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.052	0.000698424535413	0.0002	0.000399361	0.0002	0.0010	0.0002	0	0	0.0002	0	0	0.0001811	28	154602	rs1071707	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0.0003	0	2.522e-05	0.0001	0	0.0002	0.0003	0	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0003	0.0003	0.0005	0	0	0	0	0.0002	0	0.0003	0.0005	0	1.0	0.02201	T	0.848	0.04754	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-1.34	0.00672	N	1.16	0.38236	T	2.62	0.00307	N	0.062	0.03392	-0.9951	0.31272	T	0.018	0.07706	T	9	0.00978896	0.00220	T	6.98E-4	0.00435	T	0.052	0.14661	.	.	0.0551355673512	0.04727	0.1033479367809265	0.10264	0.00845000762128	0.00769	.	.	.	0.001199	0.07080	T	-0.633119	0.00091	T	-0.789724	0.02172	T	0.0056332338649254	0.00061	T	0.405359	0.19863	T	0.016475776	0.00200	0.031521987	0.01753	0.016475776	0.00200	0.031521987	0.01753	-4.083	0.26330	T	.	.	0.052	0.01738	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.487801	0.01906	0.159	0.37251085307060555	0.02443	0.00016	0.00195	N	AEFDBI	0.019833	0.00725	N	-2.05724434995227	0.00159	0.006799176	-2.04759736059559	0.00242	0.01067205	0.500769157944132	0.20940	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.64	-2.73	0.05599	-1.080000	0.03517	-3.365000	0.02843	-1.473000	0.01069	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.5304:0.0:0.4696	6.215	0.19860	588	0.69043	Immunoglobulin subtype;Immunoglobulin subtype;.;Immunoglobulin subtype;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	5376.44	34	chr19	42877933	.	C	T	5376.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.83;DP=618;ExcessHet=0;FS=0.528;MLEAC=1;MLEAF=0.071;MQ=59.92;MQRankSum=-1.356;QD=12.96;ReadPosRankSum=0.414;SOR=0.602	GT:AD:DP:GQ:PL	0/1:199,216:415:99:5387,0,4708	6	0	1	0
chr19	42878009	42878009	C	T	exonic	PSG1	.	nonsynonymous SNV	PSG1:NM_001184825:exon2:c.G334A:p.V112I,PSG1:NM_001184826:exon2:c.G334A:p.V112I,PSG1:NM_001297773:exon2:c.G334A:p.V112I,PSG1:NM_001330524:exon2:c.G334A:p.V112I,PSG1:NM_006905:exon2:c.G334A:p.V112I	.	.	.	.	.	.	.	.	.	.	.	2369597	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.136	0.00267242511716	7.7e-05	0.000199681	2.473e-05	0.0003	0	0	0	0	0	0	2.59e-05	4	154602	rs372748159	6.161e-06	6.159e-06	8.173e-06	4.128e-06	0.0001	2.9e-06	2.1e-06	5.852e-05	3.759e-05	0.0001	2.237e-05	0	0	0	0	8.998e-07	3.315e-05	0	5.273e-05	5.253e-05	6.446e-05	4.046e-05	0.0002	2.564e-05	1.835e-05	9.589e-05	6.979e-05	0.0002	0	0	0	0	0	0	0	0	0	0.114	0.28646	T	0.232	0.26145	T	0.457	0.44016	P	0.551	0.58175	P	.	.	.	.	1	0.08975	N	2.26	0.64354	M	-0.23	0.66652	T	-0.69	0.21003	N	0.094	0.15749	-0.6631	0.62139	T	0.417	0.76326	T	9	0.054879338	0.05912	T	0.002672	0.05463	T	0.136	0.36778	.	.	0.212008924253	0.20833	0.058057731095929495	0.05746	0.0240959767246	0.02450	.	.	.	0.003451	0.22566	T	-0.462203	0.00952	T	-0.595723	0.13174	T	0.116899430751801	0.14123	T	0.720928	0.33779	T	0.031001639	0.02862	0.030770835	0.01576	0.031001639	0.02862	0.030770835	0.01576	-6.698	0.51825	T	.	.	0.099	0.23848	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.894564	0.12684	9.205	0.98560154748288176	0.42961	0.00270	0.01469	N	AEFDBI	0.026348	0.01964	N	-0.65926609801227	0.17190	0.8824904	-0.933944736803814	0.11297	0.5746328	0.995876695885725	0.34380	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.64	-0.709	0.10671	-1.104000	0.03436	-3.851000	0.02495	0.368000	0.20244	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.5924:0.0:0.4076	4.142	0.09665	588	0.69043	Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype;.;Immunoglobulin V-set domain|Immunoglobulin subtype;.;.;Immunoglobulin V-set domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	6640.44	34	chr19	42878009	.	C	T	6640.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.143;DP=766;ExcessHet=0;FS=1.1;MLEAC=1;MLEAF=0.071;MQ=58.67;MQRankSum=-0.27;QD=12.21;ReadPosRankSum=-0.566;SOR=0.668	GT:AD:DP:GQ:PL	0/1:266,278:544:99:6651,0,6625	6	0	1	0
chr19	42907590	42907590	G	A	exonic	PSG6	.	nonsynonymous SNV	PSG6:NM_001031850:exon4:c.C971T:p.T324I,PSG6:NM_002782:exon4:c.C971T:p.T324I	.	11	1499	12	0	0	12	0.00398671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.000935690445101	0.0002	0.00159744	0.0024	0.0005	0.0007	0	0.0018	0.0037	0	0.0015	0.0005498	85	154602	rs199858569	0.0042	0.0056	0.0043	0.0042	0.0051	0.0041	0.0041	0.0050	0.0049	0.0006	0.0010	0.0005	2.522e-05	0.0011	0.0013	0.0051	0.0031	0.0022	0.0034	0.0034	0.0036	0.0031	0.0058	0.0031	0.0030	0.0054	0.0052	0.0010	0.0077	0.0016	0.0020	0.0002	0.0009	0	0.0058	0.0043	0.0025	0.122	0.28395	T	0.095	0.40267	T	0.023	0.18885	B	0.037	0.23121	B	.	.	.	.	0.888713	0.35905	D	1.715	0.44382	L	2.6	0.13204	T	-3.32	0.66085	D	0.138	0.19459	-1.0699	0.09436	T	0.030	0.13067	T	9	0.013592422	0.00288	T	9.36E-4	0.00911	T	0.036	0.09122	.	.	0.0138822411134	0.00435	0.06341894629387448	0.06280	.	.	.	.	.	0.019266	0.15384	T	-0.582192	0.00187	T	-0.605748	0.12333	T	0.00578023317583382	0.00063	T	0.666133	0.28234	T	0.09713385	0.22890	0.10541316	0.25339	0.09713385	0.22890	0.10541316	0.25338	-7.705	0.59042	D	.	.	0.093	0.16143	B	.;.	.;.	0.854798	0.12271	8.813	0.64076743511146561	0.07395	0.00550	0.02521	N	AEFI	0.027076	0.02148	N	-1.47845086084388	0.02002	0.08798357	-1.64577425260296	0.01398	0.06317328	8.51604559072499E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-0.336000	0.07908	-8.589000	0.00945	0.474000	0.21982	0.006000	0.17386	0.000000	0.08366	0.013000	0.09966	0.3397:0.2277:0.4326:0.0	3.035	0.05751	693	0.58582	.;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	3606.22	83	chr19	42907590	.	G	A	3606.22	.	AC=2;AF=0.143;AN=14;DP=277;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=44.49;QD=29.56;SOR=2.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,105,1347:.	6	1	0	0
chr19	42907609	42907609	T	G	exonic	PSG6	.	nonsynonymous SNV	PSG6:NM_001031850:exon4:c.A952C:p.I318L,PSG6:NM_002782:exon4:c.A952C:p.I318L	.	11	1504	7	0	0	7	0.00232172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.000569263377225	0.0006	0.00279553	0.0030	0.0007	0.0010	0.0001	0.0018	0.0044	0	0.0019	0.0020363	53	26028	rs144117726	0.0051	0.0055	0.0051	0.0050	0.0061	0.0050	0.0049	0.0060	0.0060	0.0007	0.0011	0.0007	0	0.0011	0.0015	0.0061	0.0036	0.0022	0.0033	0.0033	0.0036	0.0031	0.0058	0.0031	0.0030	0.0053	0.0051	0.0011	0.0077	0.0016	0.0020	0.0002	0.0008	0	0.0058	0.0043	0.0027	1.0	0.00964	T	0.353	0.17320	T	0.001	0.09854	B	0.002	0.11217	B	.	.	.	.	1	0.08975	N	1.845	0.48678	L	2.68	0.12371	T	-0.31	0.12472	N	0.147	0.14905	-0.9277	0.44473	T	0.017	0.06759	T	9	0.006357372	0.00144	T	5.69E-4	0.00233	T	0.006	0.00375	.	.	0.0138822411134	0.00435	0.06322956702793507	0.06261	.	.	.	.	.	0.001763	0.01186	T	-0.626535	0.00100	T	-0.675802	0.07241	T	0.007311527448042	0.00084	T	0.0342966	0.00229	T	0.045040503	0.07305	0.032129508	0.01901	0.045040503	0.07305	0.032129508	0.01901	-4.834	0.34985	T	.	.	0.081	0.12891	B	.;.	.;.	-0.196963	0.03105	0.492	0.21319793278576071	0.00807	0.00342	0.01773	N	AEFI	0.036374	0.04837	N	-1.54120198126636	0.01586	0.06932399	-1.66197432300222	0.01315	0.0593398	6.79925162466352E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-0.583000	0.05900	-9.701000	0.00787	0.468000	0.21784	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2806:0.0:0.2847:0.4347	2.231	0.03751	693	0.58582	.;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	3640.22	100	chr19	42907609	.	T	G	3640.22	.	AC=2;AF=0.143;AN=14;DP=299;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=47.86;QD=29.21;SOR=2.655	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1347	6	1	0	0
chr19	42925985	42925985	T	C	exonic	PSG7	.	nonsynonymous SNV	PSG7:NM_001206650:exon4:c.A665G:p.Y222C,PSG7:NM_002783:exon5:c.A1031G:p.Y344C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.651e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs764507359	3.423e-06	3.422e-06	2.725e-06	4.129e-06	0.0002	1e-06	7.3e-07	7.42e-06	2.77e-06	0	4.474e-05	0	0	0	0.0002	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.92824	D	0.999	0.77913	D	0.998	0.88582	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488	0.56145	.	.	.	.	.	.	.	0.12329286	0.23403	T	.	.	.	.	.	.	.	0.0611884634855	0.05136	0.08920940849193043	0.08853	.	.	0.50353717804	0.39320	T	0.031618	0.22125	T	-0.0088433	0.50429	T	-0.0746324	0.65294	T	.	.	.	0.985721	0.95244	D	0.12001723	0.28250	0.1710955	0.39266	0.12001723	0.28249	0.1710955	0.39265	-7.024	0.54209	T	.	.	0.233	0.52360	B	.;.;.	.;.;.	2.466897	0.31786	18.85	0.89102745964299823	0.18513	0.01235	0.04363	N	AEFI	0.045598	0.07476	N	.	.	.	.	.	.	1.59987085123386E-4	0.05650	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	.	.	1.34	1.34	0.21018	0.536000	0.22838	0.950000	0.22916	0.461000	0.21595	0.007000	0.17678	0.001000	0.17328	0.002000	0.04165	0.0:0.0:0.0:1.0	4.772	0.12531	757	0.50970	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1614.44	33	chr19	42925985	.	T	C	1614.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.05;DP=320;ExcessHet=0;FS=0.633;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-1.586;SOR=0.612	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1272	6	0	1	0
chr19	43195067	43195067	C	T	exonic	PSG4	.	nonsynonymous SNV	PSG4:NM_001276495:exon3:c.G637A:p.G213R,PSG4:NM_001316339:exon3:c.G550A:p.G184R,PSG4:NM_002780:exon4:c.G916A:p.G306R	.	15	1506	0	1	0	2	0.00066357	.	.	.	2375630	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.062	0.000393950769073	0.0006	0.000199681	0.0005	9.626e-05	0.0005	0	0	0.0008	0.0011	0	0.0004398	68	154602	rs182372417	0.0006	0.0006	0.0006	0.0006	0.0009	0.0006	0.0005	0.0007	0.0006	5.987e-05	0.0009	3.844e-05	0	0	0.0004	0.0007	0.0004	1.16e-05	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0006	0.0005	2.429e-05	0	0.0004	0	0	0	0	0.0007	0.0010	0	0.0	0.91255	D	0.043	0.65728	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999995	0.27148	N	3.215	0.89331	M	1.94	0.22678	T	-4.76	0.90254	D	0.445	0.58629	-1.0186	0.24171	T	0.153	0.48343	T	9	0.051755846	0.05106	T	3.94E-4	0.00065	T	0.062	0.17934	0.908	0.98109	0.1749357433	0.17121	0.4377517844299892	0.43692	0.0250491307488	0.02552	0.403490364552	0.25554	T	0.051657	0.34447	T	-0.350194	0.04715	T	-0.352511	0.38916	T	0.161374536540025	0.17972	T	0.974203	0.90777	D	0.41476464	0.61741	0.352587	0.60834	0.41476464	0.61742	0.352587	0.60833	-6.438	0.49806	T	.	.	0.438	0.75369	A	.;.;.	.;.;.	2.082058	0.26480	17.13	0.99380357290297627	0.61847	0.01753	0.05519	N	AEFI	0.064530	0.12535	N	-0.128272119516253	0.36164	2.086732	-0.476256576475183	0.22810	1.240751	3.08458017946517E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.45	1.45	0.21708	0.737000	0.25812	.	.	0.282000	0.18639	0.008000	0.17931	0.024000	0.20971	0.004000	0.06068	0.0:1.0:0.0:0.0	6.272	0.20167	814	0.42100	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000583	0.000000	0.000000	0.000000	0.000000	0.000000	0.003546	0.000000	0.07143	5620.44	34	chr19	43195067	.	C	T	5620.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=5.46;DP=585;ExcessHet=0;FS=3.883;MLEAC=1;MLEAF=0.071;MQ=59.51;MQRankSum=-0.522;QD=14.19;ReadPosRankSum=-1.046;SOR=0.898	GT:AD:DP:GQ:PL	0/1:193,203:396:99:5631,0,4531	6	0	1	0
chr19	43267912	43267912	A	G	exonic	PSG9	.	nonsynonymous SNV	PSG9:NM_001301707:exon2:c.T302C:p.V101A,PSG9:NM_001301708:exon2:c.T302C:p.V101A,PSG9:NM_001301709:exon2:c.T302C:p.V101A,PSG9:NM_002784:exon2:c.T302C:p.V101A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00290313431593	.	.	8.236e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs746174208	1.026e-05	1.026e-05	6.807e-06	1.375e-05	0.0001	6.16e-06	4.89e-06	5.396e-05	4.042e-05	0.0001	0	0	0	0	0	1.799e-06	0	0.0001	6.576e-06	6.568e-06	1.285e-05	0	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.1	0.35165	T	0.032	0.53788	D	0.006	0.28508	B	0.03	0.28327	B	.	.	.	.	1	0.08975	N	2.175	0.60977	M	-0.33	0.68329	T	-2.72	0.62008	D	0.074	0.05287	-0.9636	0.38488	T	0.124	0.42820	T	9	0.2189512	0.38551	T	0.002903	0.06133	T	0.101	0.28911	0.755	0.88484	0.497280371566	0.49363	0.059660059810907724	0.05906	0.00585735596096	0.00512	0.355807393789	0.18774	T	0.078391	0.36852	T	-0.314265	0.07377	T	-0.507669	0.21555	T	0.0370262042691814	0.03159	T	0.366163	0.08910	T	0.0967667	0.22797	0.096290536	0.22874	0.0967667	0.22797	0.096290536	0.22873	-6.79	0.55610	T	.	.	0.204	0.49108	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.549690	0.19861	14.47	0.63657758825684552	0.07282	0.00607	0.02700	N	AEFBI	0.028196	0.02440	N	-0.647170993566819	0.17542	0.9035968	-0.887729434314332	0.12383	0.6367163	0.0474189477076457	0.14729	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.56	0.465	0.15923	0.360000	0.19987	.	.	0.483000	0.22176	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.7565:0.0:0.2435:0.0	3.343	0.06709	830	0.39242	Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype;.;Immunoglobulin V-set domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	4602.44	34	chr19	43267912	.	A	G	4602.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.29;DP=505;ExcessHet=0;FS=2.405;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=2.27;SOR=0.726	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	0	1	0
chr19	43360267	43360267	T	G	exonic	CD177	.	nonsynonymous SNV	CD177:NM_020406:exon6:c.T622G:p.F208V	.	422	1099	1	0	0	1	0.000454752	.	.	.	728237	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.021	.	0.0059	0.00499201	0.0021	0.0204	0.0017	0.0011	0	0.0002	0.0012	0.0004	0.0017076	264	154602	rs73559882	0.0007	0.0007	0.0008	0.0006	0.0186	0.0007	0.0007	0.0174	0.0169	0.0186	0.0012	3.831e-05	0.0010	1.874e-05	0.0012	0.0002	0.0011	0.0005	0.0054	0.0054	0.0054	0.0054	0.0184	0.0051	0.0050	0.0173	0.0169	0.0184	0	0.0016	0	0.0006	0	0	0.0002	0.0043	0.0012	.	.	.	0.662	0.06469	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	.	.	.	.	.	.	0.107	0.09207	.	.	.	.	.	.	.	0.0041930676	0.00083	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.27016332143910726	0.26929	.	.	0.278676092625	0.07309	T	.	.	.	-0.722642	0.00027	T	-0.796522	0.01991	T	0.000349254600483273	0.00003	T	0.204979	0.02394	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.25978	B	.	.	-1.896431	0.00128	0.002	0.6915302550359147	0.08882	0.00300	0.01598	N	AEFDGBI	0.036278	0.04807	N	-1.53269640661749	0.01638	0.07164079	-1.86765229110733	0.00566	0.02511846	0.994617042786974	0.33720	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.564101	0.26826	0	.	.	3.18	-6.36	0.01796	-2.728000	0.00877	.	.	-1.161000	0.01412	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.4064:0.0856:0.2815:0.2265	1.645	0.02594	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	981.44	33	chr19	43360267	.	T	G	981.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.325;DP=287;ExcessHet=0;FS=0.748;MLEAC=1;MLEAF=0.071;MQ=59.34;MQRankSum=-2.52;QD=10.01;ReadPosRankSum=0.229;SOR=0.784	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1263	6	0	1	0
chr19	43535145	43535145	C	T	exonic	ZNF575	.	nonsynonymous SNV	ZNF575:NM_174945:exon4:c.C196T:p.P66S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.0201615316833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.23997	T	0.039	0.51112	D	0.794	0.44757	P	0.285	0.40506	B	0.015180	0.28322	N	0.172032	0.506765	0.31786	D	0.27	0.09956	N	0.61	0.53516	T	-1.99	0.45949	N	0.353	0.40864	-1.0131	0.25943	T	0.063	0.26065	T	10	0.10917696	0.20356	T	0.020162	0.42696	T	0.070	0.20419	0.321	0.30064	0.449283877778	0.44552	0.3951623953370396	0.39431	1.29012888317	0.82767	0.906857728958	0.97164	D	0.02003	0.20388	T	-0.209766	0.19411	T	-0.539091	0.18387	T	0.308147838411513	0.25338	T	0.841716	0.52922	T	0.09139547	0.21415	0.08419413	0.19349	0.09139547	0.21415	0.08419413	0.19349	-6.569	0.50816	T	.	.	0.188	0.48644	B	.;.;.;.	.;.;.;.	2.863885	0.37848	20.6	0.99827150325543812	0.90939	0.27528	0.23303	N	AEFDBI	0.157473	0.28299	N	-0.500404737136343	0.22067	1.17573	-0.424088869613946	0.24293	1.329458	0.999981717265123	0.51787	0.660377	0.49826	0	0.694456	0.67091	0	0.607795	0.38427	0	0.567892	0.33627	0	.	.	4.47	3.41	0.38145	-0.128000	0.10508	.	.	0.599000	0.40250	0.000000	0.06391	0.996000	0.32793	0.785000	0.37106	0.0:0.8289:0.1711:0.0	12.418	0.54837	889	0.27310	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	35	chr19	43535145	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=201;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	1	0	0
chr19	43964980	43964980	G	C	exonic	ZNF221	.	nonsynonymous SNV	ZNF221:NM_001297588:exon3:c.G112C:p.V38L,ZNF221:NM_001297589:exon3:c.G112C:p.V38L,ZNF221:NM_013359:exon4:c.G112C:p.V38L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.00202905500591	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1161988523	6.84e-07	6.84e-07	0	1.375e-06	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.06	0.45744	T	0.888	0.48822	P	0.519	0.48163	P	.	.	.	.	0.999096	0.21630	N	0.73	0.18813	N	4.69	0.01694	T	-1.88	0.43906	N	0.307	0.34767	-0.8824	0.49569	T	0.007	0.02518	T	9	0.23870546	0.40996	T	0.002029	0.03695	T	0.107	0.30369	0.556	0.67409	0.1749357433	0.17121	.	.	0.139508168454	0.15724	0.337125271559	0.16007	T	0.008706	0.07977	T	-0.295474	0.09093	T	-0.662205	0.08118	T	0.31433221834018	0.25591	T	0.0317968	0.00203	T	0.16507111	0.36756	0.38541082	0.63459	0.16507111	0.36755	0.38541082	0.63459	-10.137	0.74728	D	.	.	0.225	0.45653	B	.;.;.;.;.	.;.;.;.;.	1.979880	0.25155	16.66	0.98449629577762265	0.41609	0.81753	0.41094	D	AEFBI	0.152237	0.27688	N	-0.241544946444952	0.31443	1.76308	-0.346465722500569	0.26618	1.471476	1.46880859610302E-4	0.05573	0.554377	0.28877	0	0.588066	0.40923	0	0.463624	0.06942	0	0.491896	0.07777	0	.	.	2.64	1.57	0.22490	0.541000	0.22915	.	.	0.596000	0.33519	0.652000	0.28189	0.000000	0.08366	0.792000	0.37394	0.1438:0.0:0.8562:0.0	6.913	0.23528	656	0.62345	.;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	3917.44	39	chr19	43964980	.	G	C	3917.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.27;DP=549;ExcessHet=0;FS=5.612;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=-1.475;SOR=0.894	GT:AD:DP:GQ:PL	0/1:190,150:340:99:3928,0,4857	6	0	1	0
chr19	43996525	43996525	A	T	exonic	ZNF155	.	nonsynonymous SNV	ZNF155:NM_001260486:exon5:c.A668T:p.Q223L,ZNF155:NM_001260487:exon5:c.A668T:p.Q223L,ZNF155:NM_003445:exon5:c.A668T:p.Q223L,ZNF155:NM_198089:exon5:c.A668T:p.Q223L,ZNF155:NM_001260488:exon6:c.A701T:p.Q234L	.	419	1050	49	4	0	57	0.0264256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0049	0.00519169	0.0063	0.0062	0.0062	0	0.0003	0.0047	0.0044	0.0184	0.0056209	869	154602	rs62640893	0.0041	0.0041	0.0035	0.0047	0.0199	0.0040	0.0040	0.0191	0.0188	0.0064	0.0055	0.0411	2.519e-05	0.0003	0.0160	0.0020	0.0066	0.0199	0.0053	0.0053	0.0050	0.0057	0.0168	0.0050	0.0049	0.0138	0.0127	0.0074	0	0.0084	0.0374	0	9.411e-05	0.0136	0.0021	0.0066	0.0168	0.084	0.32929	T	0.087	0.41742	T	0.981	0.59675	D	0.905	0.64260	P	.	.	.	.	0.997188	0.22759	N	0.18	0.09070	N	3.42	0.05507	T	-4.18	0.75615	D	0.116	0.13769	-1.0267	0.21527	T	0.039	0.16849	T	9	0.004463047	0.00092	T	.	.	.	0.030	0.07022	.	.	0.31077124679	0.30691	0.030600505512641492	0.03009	0.0959658060652	0.10830	0.27735710144	0.07127	T	0.042552	0.26220	T	-0.615684	0.00117	T	-0.642884	0.09460	T	0.051471745858201	0.05757	T	0.20468	0.02388	T	0.06652734	0.14321	0.08079469	0.18306	0.06652734	0.14321	0.08079469	0.18306	-5.602	0.42810	T	.	.	0.177	0.42375	B	.;.;.;.	.;.;.;.	1.051754	0.14328	10.91	0.99437527373424284	0.64571	0.11856	0.16905	N	AEFBI	0.057234	0.10646	N	-0.680687512903077	0.16572	0.8455478	-0.791843044207809	0.14695	0.7691477	0.00535347471497114	0.10912	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	2.59	1.48	0.21900	0.053000	0.14067	.	.	-0.701000	0.04053	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.7917:0.0:0.0:0.2083	6.836	0.23118	620	0.66037	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020141	0.030303	0.019022	0.017544	0.000000	0.000000	0.012195	0.022727	0.2143	11429.7	119	chr19	43996525	.	A	T	11429.7	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.665;DP=1240;ExcessHet=0;FS=1.272;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=31.4;ReadPosRankSum=-1.86;SOR=0.588	GT:AD:DP:GQ:PL	0/0:260,0:260:99:0,120,1800	5	1	1	0
chr19	44032765	44032765	C	T	exonic	ZNF222	.	nonsynonymous SNV	ZNF222:NM_001129996:exon4:c.C1211T:p.T404M,ZNF222:NM_013360:exon4:c.C1091T:p.T364M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.00198558338622	.	.	8.238e-05	0	0.0002	0.0001	0	4.496e-05	0	0.0002	6.47e-05	10	154602	rs774744636	4.788e-05	4.788e-05	3.947e-05	5.638e-05	0.0003	3.86e-05	3.54e-05	0.0001	0.0001	8.961e-05	0.0001	3.826e-05	0.0002	0	0.0003	3.147e-05	1.656e-05	0.0002	3.288e-05	3.284e-05	2.571e-05	4.039e-05	0.0004	1.262e-05	7.98e-06	7.29e-05	3.029e-05	2.415e-05	0	0.0001	0	0	0	0	0	0	0.0004	0.014	0.53172	D	0.006	0.70582	D	0.125	0.26866	B	0.091	0.29943	B	.	.	.	.	0.998137	0.22332	N	2.5	0.72771	M	1.74	0.26301	T	-5.0	0.82341	D	0.169	0.19593	-0.9487	0.41194	T	0.090	0.34628	T	9	0.09590778	0.17164	T	0.001986	0.03562	T	0.085	0.24743	0.423	0.46693	0.298056030225	0.29408	0.0368681026568925	0.03633	0.0515081126592	0.05672	0.326141178608	0.14351	T	0.058634	0.30895	T	-0.417513	0.01774	T	-0.545356	0.17775	T	0.117061006816827	0.14139	T	0.770723	0.40088	T	0.043202657	0.06692	0.09410794	0.22261	0.043202657	0.06692	0.09410794	0.22261	-8.316	0.63203	D	.	.	0.166	0.40360	B	.;.	.;.	1.369664	0.17795	13.37	0.83737228677424391	0.14891	0.01820	0.05660	N	AEFGBCI	0.040718	0.06093	N	-0.858909154671018	0.11831	0.5731698	-0.971558616499363	0.10427	0.5250999	0.00100797712540995	0.08115	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.79	0.434	0.15752	0.404000	0.20722	.	.	-1.305000	0.01240	0.009000	0.18154	0.000000	0.08366	0.000000	0.00833	0.186:0.7026:0.0:0.1114	5.971	0.18588	605	0.67457	Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2987.44	45	chr19	44032765	.	C	T	2987.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.7;DP=443;ExcessHet=0;FS=5.691;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=0.884;SOR=0.42	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,117,1755	6	0	1	0
chr19	44118527	44118527	A	G	exonic	ZNF225	.	nonsynonymous SNV	ZNF225:NM_013362:exon4:c.A188G:p.E63G,ZNF225:NM_001321685:exon5:c.A188G:p.E63G	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0071	0.00599042	0.0022	0.0240	0.0011	0	0	7.497e-05	0.0011	6.058e-05	0.002044	316	154602	rs76696522	0.0007	0.0007	0.0008	0.0006	0.0239	0.0007	0.0007	0.0226	0.0220	0.0239	0.0014	0	0	0	0.0017	5.038e-05	0.0019	8.116e-05	0.0068	0.0068	0.0072	0.0064	0.0235	0.0064	0.0063	0.0223	0.0218	0.0235	0	0.0020	0	0	0	0	0.0001	0.0066	0	0.004	0.65419	D	0.039	0.51112	D	0.999	0.77913	D	0.996	0.84481	D	.	.	.	.	1	0.08975	N	1.84	0.48285	L	5.83	0.09262	T	-2.96	0.61722	D	0.205	0.25377	-1.0320	0.19809	T	0.018	0.07282	T	9	0.0038171709	0.00072	T	.	.	.	0.059	0.16972	.	.	0.42264334713	0.41881	0.027729299911179582	0.02722	0.530994264149	0.50620	0.259045958519	0.04778	T	0.039913	0.43997	T	-0.65463	0.00068	T	-0.695521	0.06074	T	0.0342224221478556	0.02675	T	0.627137	0.30091	T	0.10570637	0.24994	0.18456875	0.41516	0.10570637	0.24994	0.18456875	0.41516	-6.13	0.47354	T	.	.	0.086	0.14477	B	.;.;.;.	.;.;.;.	1.645061	0.20990	15.00	0.99685128764959274	0.79507	0.01224	0.04337	N	AEFBI	0.024168	0.01454	N	-0.525784218315564	0.21249	1.126293	-0.82492629176948	0.13892	0.7230818	6.56007692790729E-5	0.04366	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.93	-0.541	0.11265	0.439000	0.21293	.	.	0.727000	0.85467	0.000000	0.06391	0.000000	0.08366	0.620000	0.31896	0.4526:0.5474:0.0:0.0	6.128	0.19411	600	0.68026	Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.005051	0.004076	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	4401.44	33	chr19	44118527	.	A	G	4401.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.69;DP=587;ExcessHet=0;FS=5.11;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-0.173;SOR=0.924	GT:AD:DP:GQ:PL	0/1:209,180:389:99:4412,0,5100	6	0	1	0
chr19	44150416	44150416	A	G	exonic	ZNF234	.	nonsynonymous SNV	ZNF234:NM_001144824:exon5:c.A146G:p.H49R,ZNF234:NM_006630:exon5:c.A146G:p.H49R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00074996768875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.356	0.17166	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.62	0.15745	N	5.7	0.00742	T	-3.14	0.64019	D	0.088	0.06587	-0.9476	0.41380	T	0.002	0.00707	T	9	0.06643152	0.09110	T	7.5E-4	0.00529	T	0.033	0.08068	0.511	0.60846	0.218845423259	0.21516	0.02149669496549984	0.02102	0.12384389064	0.13943	0.287970453501	0.08627	T	0.010394	0.09394	T	-0.280572	0.10607	T	-0.640799	0.09611	T	0.0571324487561985	0.06710	T	0.19898	0.02226	T	0.084027074	0.19431	0.07805651	0.17447	0.084027074	0.19431	0.07805651	0.17447	-6.527	0.50494	T	.	.	0.079	0.07365	B	.;.	.;.	0.159614	0.05504	1.968	0.46786576766484816	0.03774	0.00344	0.01781	N	AEFBI	0.020088	0.00759	N	-1.20384141173803	0.04943	0.2242263	-1.31497810107259	0.04236	0.1993813	0.0026453067207074	0.09600	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	2.24	-4.48	0.03267	-0.582000	0.05907	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.778000	0.36829	0.4025:0.0:0.431:0.1665	4.094	0.09456	804	0.43891	Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	34.27	20	chr19	44150416	.	A	G	34.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.338;DP=209;ExcessHet=0;FS=20.681;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=0.486;SOR=4.426	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1097	5	0	1	1
chr19	44176131	44176131	G	A	exonic	ZNF226	.	nonsynonymous SNV	ZNF226:NM_001032372:exon6:c.G869A:p.C290Y,ZNF226:NM_001032373:exon6:c.G869A:p.C290Y,ZNF226:NM_001319088:exon6:c.G869A:p.C290Y,ZNF226:NM_001319090:exon6:c.G869A:p.C290Y,ZNF226:NM_001319089:exon7:c.G869A:p.C290Y,ZNF226:NM_016444:exon7:c.G869A:p.C290Y	.	.	.	.	.	.	.	.	.	.	.	2395197	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.005	0.00209313907997	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1461750949	8.893e-06	8.893e-06	1.089e-05	6.875e-06	0.0005	4.96e-06	3.82e-06	0.0001	7.541e-05	0.0001	0	0	0	0	0.0005	0	8.279e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.33923	T	0.038	0.51421	D	0.411	0.35101	B	0.081	0.28987	B	0.843530	0.07014	N	1.110420	1	0.08975	N	0.095	0.08423	N	2.5	0.14408	T	-2.76	0.58569	D	0.087	0.06454	-0.9602	0.39143	T	0.014	0.05417	T	10	0.053093225	0.05447	T	0.002093	0.03855	T	0.005	0.00259	0.352	0.35084	0.0986583533028	0.09354	0.019865653643665614	0.01939	0.0241015122764	0.02450	0.229722321033	0.01947	T	0.036281	0.24042	T	-0.499496	0.00575	T	-0.77374	0.02647	T	0.105773029422308	0.12980	T	0.355164	0.08047	T	0.085861824	0.19934	0.15087374	0.35565	0.085861824	0.19934	0.15087374	0.35564	-4.828	0.34916	T	.	.	0.085	0.10256	B	.;.;.	.;.;.	-0.301758	0.02610	0.325	0.29536059051893265	0.01571	0.08646	0.14546	N	AEFDBCIJ	0.051886	0.09209	N	-1.37856086087353	0.02839	0.1259721	-1.47049707779536	0.02589	0.1193532	0.0905453909134378	0.16112	0.562547	0.31514	0	0.577304	0.33150	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	4.28	-4.34	0.03412	-3.579000	0.00474	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.5072:0.1458:0.347:0.0	5.732	0.17311	906	0.23090	Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	2247.44	34	chr19	44176131	.	G	A	2247.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.971;DP=394;ExcessHet=0;FS=3.239;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.891;SOR=0.504	GT:AD:DP:GQ:PL	0/1:106,90:196:99:2258,0,2873	6	0	1	0
chr19	44176977	44176977	C	T	exonic	ZNF226	.	nonsynonymous SNV	ZNF226:NM_001032372:exon6:c.C1715T:p.S572L,ZNF226:NM_001032373:exon6:c.C1715T:p.S572L,ZNF226:NM_001319088:exon6:c.C1715T:p.S572L,ZNF226:NM_001319090:exon6:c.C1715T:p.S572L,ZNF226:NM_001319089:exon7:c.C1715T:p.S572L,ZNF226:NM_016444:exon7:c.C1715T:p.S572L	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	0.0083	0.00838658	0.0027	0.0291	0.0012	0	0	0.0003	0.0011	0	0.0024709	382	154602	rs116372639	0.0009	0.0009	0.0010	0.0008	0.0297	0.0009	0.0008	0.0282	0.0276	0.0297	0.0013	0.0027	0	0	0.0016	4.317e-05	0.0021	6.956e-05	0.0084	0.0084	0.0087	0.0081	0.0290	0.0080	0.0079	0.0276	0.0271	0.0290	0	0.0031	0.0026	0	0	0	5.881e-05	0.0080	0.0002	0.264	0.16358	T	0.246	0.23984	T	0.999	0.77913	D	0.991	0.79672	D	0.017818	0.27632	N	0.000000	1	0.08975	N	2.085	0.57729	M	3.19	0.07353	T	-3.95	0.73477	D	0.326	0.38848	-1.1617	0.00716	T	0.022	0.09193	T	10	0.006456375	0.00146	T	.	.	.	0.098	0.28162	.	.	0.608945918356	0.60581	0.038745397616999605	0.03820	0.138354414191	0.15603	0.389660060406	0.23622	T	0.172206	0.52061	T	-0.600507	0.00145	T	-0.613734	0.11684	T	0.0533317606112498	0.06076	T	0.882712	0.60367	D	0.11542107	0.27237	0.16517721	0.38225	0.11542107	0.27237	0.16517721	0.38224	-6.388	0.49416	T	.	.	0.637	0.70377	P	.;.;.	.;.;.	2.383299	0.30594	18.49	0.9981899216720469	0.90238	0.34168	0.25003	N	AEFBHCI	0.183693	0.31102	N	0.205978747390244	0.51488	3.329672	0.0413167897453127	0.41653	2.50615	0.0208783378212349	0.13299	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	4.1	4.1	0.47196	0.054000	0.14087	.	.	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.8997:0.0:0.1003	9.995	0.41063	906	0.23090	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.07143	868.53	57	chr19	44176977	.	C	T	868.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.089;DP=242;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.86;MQRankSum=-0.787;QD=15.24;ReadPosRankSum=-0.073;SOR=0.675	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr19	44328758	44328758	G	A	exonic	ZNF112	.	nonsynonymous SNV	ZNF112:NM_001348284:exon3:c.C1216T:p.R406C,ZNF112:NM_001348282:exon4:c.C1399T:p.R467C,ZNF112:NM_001348283:exon4:c.C1399T:p.R467C,ZNF112:NM_013380:exon4:c.C1399T:p.R467C,ZNF112:NM_001083335:exon5:c.C1417T:p.R473C,ZNF112:NM_001348281:exon5:c.C1468T:p.R490C,ZNF112:NM_001348285:exon5:c.C1216T:p.R406C	.	.	.	.	.	.	.	.	.	.	.	2395196	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.197	0.00248661202505	.	0.000199681	2.473e-05	0	0	0	0	4.497e-05	0	0	3.23e-05	5	154602	rs202199443	2.873e-05	2.873e-05	2.859e-05	2.888e-05	0.0005	2.152e-05	1.908e-05	0.0001	7.541e-05	0.0002	0	0	0	0	0.0005	2.338e-05	6.623e-05	3.478e-05	3.942e-05	3.938e-05	3.857e-05	4.031e-05	7.224e-05	1.715e-05	1.129e-05	1.915e-05	1.031e-05	7.224e-05	0	0	0	0	0	0	4.411e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.959946	0.07711	N	1.027060	1	0.08975	N	-3.505	0.00003	N	6.46	0.00533	T	6.59	0.00005	N	0.141	0.14054	-0.8839	0.49448	T	0.000	0.00075	T	10	0.013904721	0.00294	T	0.002487	0.04953	T	0.197	0.47942	.	.	0.287603790349	0.28378	0.1263753373111609	0.12563	0.159976732857	0.18046	0.18585434556	0.00160	T	0.012153	0.10734	T	-0.418289	0.01754	T	-0.635965	0.09967	T	0.024364249772928	0.01191	T	0.80302	0.45479	T	0.07432035	0.16670	0.034881625	0.02636	0.07432035	0.16669	0.034881625	0.02635	0.277	0.00264	T	.	.	0.092	0.13456	B	.;.	.;.	1.331008	0.17365	13.12	0.042958150858927915	0.00003	0.01524	0.05024	N	AEFGBI	0.053218	0.09570	N	-1.58552403176169	0.01338	0.05830743	-1.40125619382197	0.03240	0.1507208	0.026176777520816	0.13696	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	4.73	0.312	0.15082	1.244000	0.32381	.	.	0.676000	0.76740	0.002000	0.15269	0.000000	0.08366	0.703000	0.34233	0.5532:0.0:0.4468:0.0	6.739	0.22617	917	0.20147	.;Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	2245.44	99	chr19	44328758	.	G	A	2245.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.34;DP=800;ExcessHet=0;FS=1.959;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=-1.393;SOR=0.549	GT:AD:DP:GQ:PL	0/1:78,82:160:99:2256,0,1867	6	0	1	0
chr19	44329859	44329859	G	A	exonic	ZNF112	.	nonsynonymous SNV	ZNF112:NM_001348284:exon3:c.C115T:p.R39C,ZNF112:NM_001348282:exon4:c.C298T:p.R100C,ZNF112:NM_001348283:exon4:c.C298T:p.R100C,ZNF112:NM_013380:exon4:c.C298T:p.R100C,ZNF112:NM_001083335:exon5:c.C316T:p.R106C,ZNF112:NM_001348281:exon5:c.C367T:p.R123C,ZNF112:NM_001348285:exon5:c.C115T:p.R39C	.	.	.	.	.	.	.	.	.	.	.	2339120	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.022	0.00174059504728	0.0002	.	4.984e-05	0	0	0	0	9.063e-05	0	0	4.53e-05	7	154602	rs147070415	0.0001	0.0001	0.0001	9.765e-05	0.0003	9.537e-05	9.017e-05	0.0001	0.0001	0.0002	0	0	2.519e-05	0	0.0003	0.0001	9.936e-05	1.159e-05	8.545e-05	8.538e-05	0.0001	5.381e-05	0.0001	4.959e-05	3.964e-05	6.285e-05	4.301e-05	0.0001	0	6.547e-05	0	0	0	0	8.82e-05	0	0	0.275	0.16251	T	0.284	0.49120	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.548523	0.32113	D	0.48	0.13178	N	3.45	0.13317	T	1.56	0.00948	N	0.079	0.06059	-0.9764	0.35816	T	0.007	0.02598	T	9	0.042027295	0.02912	T	0.001741	0.02934	T	0.022	0.04323	.	.	0.0611884634855	0.05136	0.04809952425758081	0.04752	0.158179034989	0.17867	0.180913925171	0.00102	T	0.004656	0.04060	T	-0.472426	0.00821	T	-0.718066	0.04890	T	0.0505770464206622	0.05600	T	0.172883	0.17968	T	0.06745246	0.14609	0.037352443	0.03370	0.06745246	0.14609	0.037352443	0.03370	-4.087	0.27556	T	.	.	0.176	0.38426	B	.;.;.;.;.;.	.;.;.;.;.;.	1.323802	0.17281	13.07	0.57939747365462579	0.05880	0.00256	0.01406	N	AEFBI	0.018064	0.00519	N	-1.48527056852431	0.01953	0.08576811	-1.45641195784389	0.02713	0.125273	0.00313404209830165	0.09948	0.651	0.46895	0	0.573888	0.26702	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	3.53	-1.29	0.08805	-0.341000	0.07858	.	.	-0.672000	0.04293	0.000000	0.06391	0.000000	0.08366	0.878000	0.41950	0.5048:0.3074:0.1878:0.0	4.689	0.12151	917	0.20147	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001009	0.005051	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	910.45	37	chr19	44329859	.	G	A	910.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.68;DP=320;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.13;ReadPosRankSum=0.51;SOR=0.693	GT:AD:DP:GQ:PL	0/1:72,40:112:99:921,0,1632	6	0	1	0
chr19	44429103	44429103	G	A	exonic	ZNF229	.	nonsynonymous SNV	ZNF229:NM_001278510:exon6:c.C1660T:p.H554Y,ZNF229:NM_014518:exon6:c.C1678T:p.H560Y	.	411	1109	2	0	0	2	0.000900901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.00239322513699	.	0.000199681	1.655e-05	0	0	0	0	1.499e-05	0	6.056e-05	1.94e-05	3	154602	rs559163646	4.104e-06	4.104e-06	2.722e-06	5.5e-06	1.159e-05	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	1.159e-05	1.317e-05	1.314e-05	2.577e-05	0	0.0004	2.19e-06	8.2e-07	7.318e-05	3.039e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	1.0	0.22561	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	.	.	.	.	.	.	0.088	0.06720	-0.9897	0.32677	T	0.148	0.47308	T	9	0.05945298	0.07148	T	0.002393	0.04673	T	.	.	0.31	0.28289	0.263612267334	0.25957	0.021077972891608492	0.02060	.	.	0.479188859463	0.35945	T	.	.	.	-0.186096	0.22834	T	-0.505091	0.21821	T	0.118523758567287	0.14285	T	0.140586	0.01132	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.24192	B	.;.	.;.	2.031783	0.25824	16.90	0.33662418094676194	0.02017	0.07346	0.13367	N	AEFBI	0.057481	0.10709	N	-0.454393644041482	0.23591	1.267958	-0.566764548086525	0.20362	1.096705	4.29140914626349E-4	0.06935	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	3.5	2.43	0.28797	0.357000	0.19935	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.155000	0.20479	0.1188:0.1996:0.4765:0.2051	1.998	0.03251	912	0.21483	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1289.44	99	chr19	44429103	.	G	A	1289.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.385;DP=443;ExcessHet=0;FS=2.629;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=1.17;SOR=1.001	GT:AD:DP:GQ:PL	0/0:113,0:113:99:0,120,1800	6	0	1	0
chr19	44430417	44430417	A	G	exonic	ZNF229	.	nonsynonymous SNV	ZNF229:NM_001278510:exon6:c.T346C:p.C116R,ZNF229:NM_014518:exon6:c.T364C:p.C122R	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.000474888114773	8.4e-05	0.000199681	4.142e-05	0.0005	0	0	0	0	0	0	3.88e-05	6	154602	rs180823319	1.163e-05	1.163e-05	8.167e-06	1.513e-05	0.0005	7.08e-06	5.79e-06	0.0003	0.0002	0.0005	0	0	0	0	0.0002	0	0	0	0.0001	0.0001	0.0001	6.714e-05	0.0004	6.508e-05	5.32e-05	0.0002	0.0002	0.0004	0	0	0	0	0	0	0	0	0	.	.	.	0.371	0.16425	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.02	0.00308	-1.0266	0.21560	T	0.056	0.23677	T	8	0.02163601	0.00522	T	4.75E-4	0.00124	T	.	.	.	.	0.208000267992	0.20380	0.17448970674389316	0.17367	.	.	0.275826096535	0.06917	T	.	.	.	-0.184895	0.23011	T	-0.503366	0.22000	T	0.00475959889665629	0.00051	T	0.229577	0.03081	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.25462	B	.;.	.;.	-0.744428	0.01221	0.061	0.29446418485637849	0.01562	0.00386	0.01946	N	AEFBI	0.024434	0.01514	N	-1.41648133462521	0.02494	0.1101972	-1.50794856977127	0.02282	0.1047273	4.17063474847899E-4	0.06899	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	3.33	-3.52	0.04383	-1.359000	0.02709	.	.	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5582:0.1629:0.2788:0.0	5.355	0.15359	912	0.21483	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2118.44	35	chr19	44430417	.	A	G	2118.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.345;DP=357;ExcessHet=0;FS=5.949;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=0.666;SOR=0.891	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	6	0	1	0
chr19	44477868	44477868	G	C	exonic	ZNF180	.	nonsynonymous SNV	ZNF180:NM_001278508:exon4:c.C538G:p.L180V,ZNF180:NM_001278509:exon5:c.C532G:p.L178V,ZNF180:NM_001288759:exon5:c.C610G:p.L204V,ZNF180:NM_001291633:exon5:c.C532G:p.L178V,ZNF180:NM_013256:exon5:c.C613G:p.L205V	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	0.0053	0.00459265	0.0015	0.0163	0.0009	0	0	2.998e-05	0	0	0.0013777	213	154602	rs151269201	0.0004	0.0004	0.0005	0.0004	0.0147	0.0004	0.0004	0.0137	0.0132	0.0147	0.0010	0	0	0	0.0009	1.799e-05	0.0010	6.957e-05	0.0040	0.0040	0.0041	0.0039	0.0141	0.0038	0.0037	0.0131	0.0128	0.0141	0	0.0008	0	0	0	0.0034	5.881e-05	0.0038	0.0004	0.017	0.52492	D	0.084	0.41239	T	0.435	0.35719	B	0.124	0.32546	B	0.840146	0.09040	N	0.899723	1	0.08975	N	.	.	.	3.04	0.09262	T	-1.27	0.31981	N	0.119	0.20793	-1.0264	0.21625	T	0.015	0.06234	T	10	0.0033375323	0.00058	T	.	.	.	0.029	0.06676	.	.	0.252162846088	0.24830	0.047223287105714974	0.04665	0.0544721877756	0.06022	0.233831346035	0.02264	T	0.021156	0.16527	T	-0.65718	0.00065	T	-0.703796	0.05620	T	0.0153482663679258	0.00342	T	0.476852	0.25234	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.09965	B	.;.;.;.	.;.;.;.	0.198209	0.05832	2.275	0.9822558050768555	0.39343	0.00001	0.00044	N	AEFDGBCI	0.066825	0.13105	N	-0.524820175253104	0.21279	1.128146	-0.587880063307816	0.19809	1.064465	0.319438237502479	0.19369	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.89	2.78	0.31702	0.265000	0.18282	.	.	0.676000	0.76740	0.005000	0.17040	0.000000	0.08366	0.470000	0.28341	0.181:0.0:0.819:0.0	8.841	0.34301	900	0.24599	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1238.53	92	chr19	44477868	.	G	C	1238.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.159;DP=287;ExcessHet=0;FS=0.778;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=-1.045;SOR=0.593	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	6	0	1	0
chr19	44814191	44814191	C	T	exonic	BCAM	.	nonsynonymous SNV	BCAM:NM_001013257:exon7:c.C824T:p.S275F,BCAM:NM_005581:exon7:c.C824T:p.S275F	.	415	1101	6	0	0	6	0.00271739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.0199055840572	0.0018	0.00159744	0.0016	0.0013	0.0003	0	0.0002	0.0017	0.0023	0.0041	0.0016106	249	154602	rs139610351	0.0021	0.0020	0.0020	0.0021	0.0033	0.0020	0.0020	0.0029	0.0028	0.0003	0.0003	0.0031	7.69e-05	0.0004	0.0018	0.0022	0.0016	0.0033	0.0012	0.0012	0.0011	0.0014	0.0048	0.0011	0.0010	0.0033	0.0028	0.0004	0	0.0002	0.0032	0	0.0004	0	0.0019	0.0009	0.0048	0.006	0.61437	D	0.013	0.69154	D	0.995	0.67487	D	0.944	0.68059	D	.	.	.	.	1	0.08975	N	2.79	0.81396	M	2.65	0.68892	T	-2.21	0.49684	N	0.434	0.47301	-1.0751	0.08328	T	0.044	0.18824	T	9	0.0076416135	0.00174	T	0.019906	0.42389	T	0.121	0.33580	.	.	0.498387242485	0.49473	0.3604593471763995	0.35959	0.669328087364	0.59342	0.529243946075	0.42927	T	0.132674	0.46291	T	-0.325482	0.06459	T	-0.242099	0.50594	T	0.0334224699105504	0.02541	T	0.810419	0.46176	T	0.08789899	0.20485	0.14533965	0.34472	0.08694026	0.20226	0.1703657	0.39140	-9.118	0.68453	D	.	.	0.200	0.42302	B	.;.;.	.;.;.	3.820635	0.55160	23.6	0.99645249689230986	0.76943	0.05805	0.11742	N	AEFDBI	0.090954	0.18427	N	-0.147241788161712	0.35351	2.029492	-0.311621938858244	0.27723	1.540347	0.86132319466983	0.25231	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.98	2.95	0.33285	1.706000	0.37497	.	.	0.599000	0.40250	0.003000	0.16062	0.891000	0.27831	0.222000	0.22517	0.0:0.8718:0.0:0.1282	6.602	0.21901	616	0.66398	Immunoglobulin-like domain;Immunoglobulin-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.003788	0.07143	1361.45	33	chr19	44814191	.	C	T	1361.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.588;DP=257;ExcessHet=0;FS=1.873;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.21;ReadPosRankSum=1.98;SOR=0.957	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1346	6	0	1	0
chr19	44991292	44991292	G	A	exonic	CLPTM1	.	nonsynonymous SNV	CLPTM1:NM_001282175:exon12:c.G1432A:p.V478I,CLPTM1:NM_001282176:exon12:c.G1168A:p.V390I,CLPTM1:NM_001294:exon12:c.G1474A:p.V492I	.	402	1119	1	0	0	1	0.000446628	.	.	.	3305781	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.062	0.0045075234587	.	.	0.0001	0	8.642e-05	0.0001	0.0006	1.499e-05	0.0011	0.0004	9.7e-05	15	154602	rs200044158	6.704e-05	6.704e-05	5.173e-05	8.251e-05	0.0008	5.629e-05	5.172e-05	0.0006	0.0006	2.987e-05	2.236e-05	0	7.557e-05	0.0002	0	1.259e-05	3.312e-05	0.0008	7.228e-05	7.223e-05	6.422e-05	8.072e-05	0.0010	3.971e-05	3.127e-05	0.0004	0.0003	7.241e-05	0	0	0	0.0002	9.411e-05	0	1.47e-05	0	0.0010	0.875	0.06184	T	1.0	0.01155	T	0.189	0.29346	B	0.106	0.31143	B	0.000005	0.62929	D	0.061993	0.999984	0.58761	D	0.475	0.13142	N	.	.	.	-0.25	0.12283	N	0.236	0.26596	-1.0837	0.06646	T	0.071	0.29066	T	9	0.065306515	0.08790	T	0.004508	0.11094	T	0.062	0.17934	.	.	0.138757226776	0.13463	0.46536711525995045	0.46455	0.682033757252	0.60087	0.440242350101	0.30610	T	0.053266	0.29395	T	-0.49307	0.00625	T	-0.581874	0.14378	T	0.0221046884781829	0.00921	T	0.827217	0.49094	T	0.030988406	0.02859	0.048032224	0.07048	0.030988406	0.02859	0.048032224	0.07048	-2.826	0.08425	T	.	.	0.08	0.07889	B	.;.;.	.;.;.	1.321114	0.17251	13.05	0.7439936658289229	0.10681	0.82954	0.42116	D	AEFDBHCI	0.528435	0.54996	D	-0.622285807539799	0.18276	0.947539	-0.430149637150463	0.24117	1.318895	0.994848254194089	0.33827	0.706548	0.73137	0	0.696144	0.67643	0	0.554053	0.18673	1	0.714379	0.83352	0	.	.	5.51	3.4	0.38031	1.646000	0.36865	.	.	-0.119000	0.14319	0.968000	0.34134	0.073000	0.22253	0.690000	0.33838	0.161:0.0:0.839:0.0	10.331	0.43005	835	0.38313	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.000000	0.000000	0.000000	0.017241	0.000000	0.007576	0.07143	371.44	33	chr19	44991292	.	G	A	371.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.785;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.215;SOR=0.829	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	6	0	1	0
chr19	45060466	45060466	C	T	exonic	CLASRP	.	nonsynonymous SNV	CLASRP:NM_001278439:exon8:c.C602T:p.S201L,CLASRP:NM_007056:exon9:c.C788T:p.S263L	.	.	.	.	.	.	.	.	0.4349	0.502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.310	0.133660761497	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	0.013	0.76473	D	1.0	0.90584	D	0.984	0.76113	D	0.006952	0.31695	U	0.000000	1	0.81001	D	.	.	.	1.21	0.56281	T	-4.86	0.81755	D	0.8	0.83371	-0.5051	0.68464	T	0.287	0.65841	T	10	0.6263567	0.68265	D	0.133661	0.81605	D	0.310	0.63162	0.227	0.15257	0.372491666437	0.36864	0.6981101706443243	0.69752	1.68168134764	0.89993	0.822185456753	0.85364	D	0.142639	0.47833	T	0.201462	0.74028	D	0.0516095	0.73690	D	0.992237865924835	0.82666	D	0.975702	0.91601	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.994	0.94895	P	.;.;.	.;.;.	6.347172	0.95057	34	0.99924870763971307	0.98980	0.96301	0.68472	D	AEFBCI	0.904399	0.85465	D	0.546382117716747	0.69861	5.417722	0.515929283904331	0.69060	5.306918	0.999913766676895	0.45857	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	4.77	3.73	0.41982	7.259000	0.77791	7.683000	0.65396	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9054:0.0:0.0946	10.493	0.43947	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	145.44	36	chr19	45060466	.	C	T	145.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.21;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=24.24;ReadPosRankSum=1.38;SOR=0.707	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr19	45396904	45396904	G	T	exonic	PPP1R13L	.	nonsynonymous SNV	PPP1R13L:NM_001142502:exon4:c.C353A:p.P118Q,PPP1R13L:NM_006663:exon4:c.C353A:p.P118Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	0.665962929755	.	.	1.166e-05	0	0	0	0	1.968e-05	0	0	6.5e-06	1	154602	rs371538363	2.943e-06	1.3e-05	1.46e-06	4.45e-06	0.0002	6.9e-07	4.7e-07	7.5e-07	2.1e-07	0	0	0	0	0	0.0002	2.804e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.017	0.60337	D	1.0	0.90584	D	0.999	0.92359	D	0.000975	0.40836	D	0.248880	0.99955	0.47544	D	2.19	0.61577	M	-1.29	0.79475	T	-1.91	0.44471	N	0.374	0.42443	0.084	0.83871	D	0.510	0.81604	D	10	0.42145133	0.56891	T	0.665963	0.97204	D	0.333	0.65522	0.209	0.12639	0.878426385898	0.87723	0.2991906377456949	0.29832	1.24717905375	0.81710	0.812979102135	0.83949	D	0.184878	0.53767	T	0.0461773	0.57850	T	-0.171446	0.57311	T	0.805433452129364	0.46727	D	0.527847	0.35895	T	0.11775796	0.27755	0.16915698	0.38929	0.11775796	0.27755	0.16915698	0.38928	-6.608	0.51115	T	.	.	0.363	0.69070	A	.;.;.	.;.;.	3.748783	0.53721	23.4	0.98688919070118986	0.44723	0.92372	0.55559	D	AEFDBI	0.367170	0.45472	N	0.318244524830892	0.57086	3.87463	0.27236804444542	0.53931	3.559924	0.999999658520013	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.619478	0.44681	0	0.635551	0.53088	0	.	.	5.02	5.02	0.66742	3.030000	0.49407	9.656000	0.81182	0.649000	0.52879	0.929000	0.32243	1.000000	0.68203	0.425000	0.27339	0.0:0.0:1.0:0.0	14.190	0.65170	837	0.37933	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	999.44	41	chr19	45396904	.	G	T	999.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.337;DP=286;ExcessHet=0;FS=0.765;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=0.323;SOR=0.557	GT:AD:DP:GQ:PL	0/1:54,45:99:99:1010,0,1247	6	0	1	0
chr19	45702991	45702991	C	T	exonic	QPCTL	.	nonsynonymous SNV	QPCTL:NM_001163377:exon6:c.C809T:p.T270M,QPCTL:NM_017659:exon7:c.C1091T:p.T364M	.	435	1074	13	0	0	13	0.00601573	.	.	.	2808918	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.509	.	0.0042	0.00319489	0.0048	0.0008	0.0027	0	0.0076	0.0060	0.0066	0.0051	0.0046571	720	154602	rs117220573	0.0055	0.0055	0.0054	0.0055	0.0127	0.0054	0.0053	0.0103	0.0095	0.0008	0.0032	0.0155	5.038e-05	0.0071	0.0127	0.0055	0.0055	0.0058	0.0048	0.0048	0.0048	0.0049	0.0063	0.0046	0.0044	0.0058	0.0056	0.0010	0.0011	0.0054	0.0196	0.0002	0.0075	0.0136	0.0063	0.0038	0.0046	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.18	0.88827	M	0.6	0.53731	T	-5.95	0.89152	D	0.769	0.77507	0.132	0.84734	D	0.407	0.75656	T	10	0.020620137	0.00478	T	.	.	.	0.509	0.78910	.	.	0.843917050134	0.84241	0.7657557228356774	0.76524	1.01633845458	0.74964	0.474044382572	0.35237	T	0.181289	0.53291	T	-0.0776471	0.40096	T	0.120114	0.78244	D	0.0534965583521286	0.06103	T	0.933407	0.77799	D	0.89458495	0.90904	0.7659443	0.86175	0.89458495	0.90905	0.7659443	0.86176	-9.812	0.76990	D	.	.	0.287	0.52993	B	.;.	.;.	4.919810	0.81018	27.5	0.99905262144289264	0.97576	0.98475	0.83169	D	AEFBI	0.868689	0.78891	D	0.902401251443892	0.91877	11.11199	0.776634405796864	0.88125	9.466701	0.999999999999899	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.71	5.71	0.89031	7.628000	0.82379	7.557000	0.60396	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.064000	0.16252	0.0:1.0:0.0:0.0	17.361	0.87240	895	0.25842	Peptidase M28|M28 Zn-Peptidase Glutaminyl Cyclase;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011078	0.015152	0.006793	0.023392	0.000000	0.025862	0.003049	0.003788	0.07143	2924.44	33	chr19	45702991	.	C	T	2924.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.31;DP=522;ExcessHet=0;FS=0.945;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-1.423;SOR=0.673	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	6	0	1	0
chr19	45768480	45768480	C	A	exonic	SIX5	.	nonsynonymous SNV	SIX5:NM_175875:exon1:c.G365T:p.G122V	Branchiootorenal syndrome 2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.511	0.930099708709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.003	0.76473	D	0.802	0.45105	P	0.435	0.45529	B	0.020870	0.26948	N	0.398073	1	0.81001	D	1.28	0.32218	L	-2.67	0.90332	D	-5.57	0.86372	D	0.629	0.64308	0.132	0.84743	D	0.549	0.83446	D	10	0.68570614	0.71548	D	0.930	0.99493	D	0.511	0.79033	0.285	0.24280	0.898348878239	0.89733	0.674297449331751	0.67367	3.74263087996	0.99852	0.953834414482	0.99825	D	0.883196	0.97568	D	0.139235	0.68253	D	-0.0377746	0.67851	D	0.960419774055481	0.65799	D	0.629737	0.24459	T	0.6428866	0.74985	0.7225692	0.83617	0.6428866	0.74986	0.7225692	0.83617	-9.611	0.71548	D	0.3749965040411953	0.47011	0.652	0.71010	P	.;.	.;.	5.228774	0.87761	29.4	0.99422069851494466	0.63838	0.80248	0.39936	D	ALL	0.716994	0.66865	D	0.0764546068183864	0.45366	2.794342	0.0873676641824601	0.43911	2.683217	0.999999999999976	0.74766	0.733237	0.96898	0	0.484254	0.07192	0	0.600757	0.32118	0	0.492483	0.08430	1	.	.	3.82	2.67	0.30756	3.163000	0.50462	7.403000	0.58588	0.504000	0.22967	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8036:0.1963:0.0	10.674	0.44969	799	0.44747	Homeobox protein SIX1, N-terminal SD domain;Homeobox protein SIX1, N-terminal SD domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.23	19	chr19	45768480	.	C	A	33.23	.	AC=2;AF=0.143;AN=14;DP=165;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	6	1	0	0
chr19	45872735	45872735	G	A	exonic	FOXA3	.	nonsynonymous SNV	FOXA3:NM_004497:exon2:c.G730A:p.A244T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0748425375525	.	.	1.231e-05	0	0	0	0	2.31e-05	0	0	6.5e-06	1	154602	rs775453392	1.311e-05	1.573e-05	9.6e-06	1.666e-05	2.297e-05	8.38e-06	6.76e-06	1.016e-05	8.39e-06	0	2.297e-05	0	0	0	0	1.626e-05	0	0	1.316e-05	1.314e-05	1.287e-05	1.347e-05	2.418e-05	2.19e-06	8.2e-07	.	.	2.418e-05	0	0	0	0	0	0	1.471e-05	0	0	0.258	0.16683	T	0.439	0.13365	T	0.001	0.07471	B	0.0	0.01387	B	0.682958	0.06101	N	1.202840	1	0.08975	N	0.805	0.20218	L	-2.86	0.91421	D	-0.78	0.21644	N	0.042	0.01498	-0.6740	0.61647	T	0.452	0.78556	T	10	0.081870764	0.13451	T	0.074843	0.72141	D	0.157	0.40909	0.27	0.21893	0.741026045076	0.73870	0.43965145732109917	0.43882	0.1720101165	0.19372	0.424312144518	0.28430	T	0.254056	0.62466	T	-0.1682	0.25508	T	-0.479384	0.24512	T	0.0203221564468554	0.00732	T	0.260474	0.04175	T	0.038449317	0.05124	0.050453324	0.07922	0.038449317	0.05124	0.050453324	0.07921	-3.388	0.14896	T	.	.	0.065	0.01884	B	.	.	-0.138433	0.03420	0.622	0.86697375368261453	0.16711	0.08619	0.14523	N	AEFDBCI	.	.	.	-1.37200344672284	0.02903	0.1288984	-1.40692906030382	0.03182	0.1479193	0.989017573195167	0.31697	0.460665	0.09802	0	0.59043	0.45803	0	0.575934	0.27490	0	0.542086	0.14980	0	.	.	3.31	-0.315	0.12114	-0.271000	0.08603	0.515000	0.19114	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2781:0.3989:0.323:0.0	3.822	0.08353	702	0.57624	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	824.27	32	chr19	45872735	.	G	A	824.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.255;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.17;ReadPosRankSum=-0.285;SOR=0.818	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	1
chr19	46230303	46230303	T	G	exonic	IGFL1	.	nonsynonymous SNV	IGFL1:NM_198541:exon3:c.T109G:p.C37G	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	.	0.0046	0.00239617	0.0054	0.0008	0.0054	0	0.0130	0.0072	0.0056	0.0004	0.0053492	827	154602	rs187146043	0.0063	0.0063	0.0065	0.0061	0.0068	0.0062	0.0062	0.0066	0.0066	0.0011	0.0053	0.0106	0	0.0131	0.0055	0.0068	0.0060	0.0004	0.0059	0.0059	0.0055	0.0063	0.0075	0.0056	0.0054	0.0069	0.0067	0.0014	0.0099	0.0075	0.0089	0	0.0137	0.0136	0.0074	0.0118	0.0004	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	0.001585	0.38554	N	0.000000	0.99622	0.23082	N	2.425	0.70256	M	0.21	0.59983	T	-11.7	0.99521	D	0.825	0.82057	-0.8196	0.53959	T	0.239	0.60691	T	10	0.03723228	0.02065	T	.	.	.	0.305	0.62620	.	.	0.534191878353	0.53070	0.7802701728234529	0.77978	0.264189448403	0.28968	0.363673508167	0.19920	T	0.147273	0.48528	T	-0.228338	0.16869	T	-0.0959219	0.63711	T	0.104620483713118	0.12857	T	0.433257	0.11819	T	0.58172077	0.71702	0.445996	0.67729	0.58172077	0.71704	0.445996	0.67729	-0.636	0.00673	T	.	.	0.612	0.69362	P	.	.	3.179877	0.43155	21.7	0.95757085069908743	0.27739	0.61672	0.31553	D	AEFBI	0.111020	0.21995	N	-0.019034625594135	0.40994	2.444238	-0.182073642364267	0.32195	1.829285	0.372296116402908	0.19882	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.76	1.7	0.23359	1.028000	0.29734	2.071000	0.30443	-0.980000	0.01901	0.899000	0.31403	1.000000	0.68203	0.056000	0.15673	0.2656:0.0:0.0:0.7343	5.038	0.13787	557	0.71576	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.020202	0.006793	0.002924	0.000000	0.008621	0.009146	0.000000	0.07143	92.44	35	chr19	46230303	.	T	G	92.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.5;DP=231;ExcessHet=0;FS=2.632;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.4;ReadPosRankSum=-1.2;SOR=1.535	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1550	6	0	1	0
chr19	46347154	46347154	C	G	exonic	PPP5C	.	nonsynonymous SNV	PPP5C:NM_001204284:exon1:c.C58G:p.P20A,PPP5C:NM_006247:exon1:c.C58G:p.P20A	.	433	1088	1	0	0	1	0.000459348	.	.	.	2689888	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.0302918819224	.	.	0.0001	0	0	0	0	0.0002	0	0	6.47e-05	10	154602	rs770899505	6.674e-05	6.704e-05	6.155e-05	7.199e-05	0.0007	5.594e-05	5.182e-05	0.0002	0.0001	0	6.874e-05	0.0005	0	0	0.0007	5.774e-05	0.0001	5.893e-05	3.942e-05	3.94e-05	6.422e-05	1.345e-05	6.539e-05	1.715e-05	1.129e-05	1.171e-05	6.25e-06	0	0	6.539e-05	0.0006	0	0	0	4.41e-05	0	0	0.022	0.48642	D	0.747	0.04860	T	0.276	0.31942	B	0.03	0.21741	B	0.055671	0.22624	U	0.327961	0.781547	0.81001	D	1.04	0.26193	L	3.58	0.04594	T	-0.21	0.10308	N	0.216	0.24135	-0.8655	0.50864	T	0.010	0.03492	T	10	0.09352875	0.16559	T	0.030292	0.52630	D	0.071	0.20720	.	.	0.334371577756	0.33041	0.23859354166576582	0.23773	0.66294325235	0.59002	0.647140681744	0.59580	T	0.241138	0.60961	T	-0.336084	0.05664	T	-0.465492	0.26004	T	0.0838393984449613	0.10471	T	0.80342	0.45053	T	0.12491375	0.29296	0.14515361	0.34437	0.12491375	0.29296	0.14515361	0.34436	-2.89	0.09044	T	.	.	0.047	0.00067	B	.	.	2.747510	0.36003	20.1	0.85879433456651633	0.16170	0.92378	0.55573	D	AEFGBHCIJ	0.425377	0.49016	N	-0.361372679138855	0.26857	1.468983	-0.276898815517414	0.28861	1.612467	0.999999999777183	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.3	3.3	0.36912	1.849000	0.38958	7.569000	0.60664	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.668000	0.33194	0.2439:0.7561:0.0:0.0	7.989	0.29392	471	0.78036	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	692.27	40	chr19	46347154	.	C	G	692.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.093;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=0.741;SOR=0.791	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1045	5	0	1	1
chr19	46623550	46623550	G	T	exonic	PTGIR	.	nonsynonymous SNV	PTGIR:NM_000960:exon2:c.C676A:p.P226T	.	415	1099	8	0	0	8	0.00362647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.0321351691626	0.0023	0.00119808	0.0028	0.0004	0	0.0011	0	0.0029	0.0056	0.0037	0.0014748	228	154602	rs138619017	0.0032	0.0031	0.0032	0.0031	0.0037	0.0031	0.0031	0.0035	0.0035	0.0006	0.0009	3.97e-05	5.485e-05	0.0007	0.0014	0.0036	0.0027	0.0037	0.0018	0.0018	0.0019	0.0016	0.0032	0.0016	0.0015	0.0028	0.0027	0.0004	0.0011	0.0008	0	0.0004	0.0007	0	0.0032	0	0.0019	0.242	0.17584	T	0.404	0.28958	T	0.001	0.07471	B	0.006	0.12133	B	0.001994	0.37503	N	0.212063	0.998204	0.22293	N	1.24	0.30952	L	-0.56	0.71187	T	0.21	0.04776	N	0.115	0.15609	-0.9924	0.31985	T	0.207	0.56649	T	10	0.006464094	0.00146	T	0.032135	0.54044	D	0.120	0.33359	.	.	0.803076710568	0.80123	0.25088818352426273	0.25002	0.244669740564	0.26975	0.311068445444	0.12068	T	0.143075	0.47901	T	-0.392173	0.02605	T	-0.337895	0.40582	T	0.0199349362435175	0.00694	T	0.550545	0.20757	T	0.06434378	0.13640	0.06075568	0.11623	0.06434378	0.13640	0.06075568	0.11622	-5.408	0.40996	T	.	.	0.070	0.04723	B	.;.;.	.;.;.	1.150357	0.15382	11.81	0.092405976867989223	0.00090	0.75447	0.36940	D	AEFDBCI	0.460426	0.51061	N	-0.519159170535707	0.21461	1.139091	-0.433542960462797	0.24020	1.313013	0.999999984895463	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.75	4.75	0.59954	2.821000	0.47765	5.256000	0.48107	0.676000	0.76740	0.993000	0.37899	1.000000	0.68203	0.003000	0.05239	0.0:0.0:1.0:0.0	15.283	0.73498	929	0.16858	GPCR, rhodopsin-like, 7TM;.;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001028	0.000000	0.004121	0.002959	0.000000	0.000000	0.003067	0.003788	0.07143	328.49	34	chr19	46623550	.	G	T	328.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.29;DP=236;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-0.145;SOR=0.614	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	6	0	1	0
chr19	46624182	46624182	A	G	exonic	PTGIR	.	nonsynonymous SNV	PTGIR:NM_000960:exon2:c.T44C:p.V15A	.	415	1102	5	0	0	5	0.00226347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	.	0.0020	0.00219649	0.0151	0.0028	0	0.0087	0.1	0.0099	0	0.0256	0.0022833	353	154602	rs200213497	0.0064	0.0062	0.0062	0.0067	0.0117	0.0063	0.0063	0.0111	0.0108	0.0007	0.0012	0.0009	0.0001	0.0040	0.0025	0.0069	0.0048	0.0117	0.0042	0.0042	0.0045	0.0040	0.0116	0.0040	0.0039	0.0092	0.0083	0.0014	0	0.0014	0.0017	0.0006	0.0022	0	0.0069	0.0033	0.0116	0.746	0.03631	T	1.0	0.01155	T	0.176	0.28893	B	0.041	0.23986	B	0.000349	0.45440	D	0.139105	1	0.08975	N	0.2	0.09183	N	3.05	0.08721	T	0.5	0.02945	N	0.161	0.16864	-0.9488	0.41177	T	0.012	0.04558	T	10	0.0036742091	0.00067	T	.	.	.	0.083	0.24192	.	.	0.286848849266	0.28300	0.2825736262160615	0.28170	0.209316482217	0.23399	0.664229989052	0.62014	T	0.153645	0.49458	T	-0.547137	0.00304	T	-0.547024	0.17612	T	0.0041909399493735	0.00045	T	0.524848	0.17228	T	0.05219638	0.09698	0.066777565	0.13724	0.05219638	0.09698	0.066777565	0.13724	-0.871	0.00867	T	.	.	0.078	0.11317	B	.;.	.;.	1.641539	0.20951	14.98	0.8406781971316204	0.15078	0.11004	0.16342	N	AEFDGBCI	.	.	.	-0.535002104525339	0.20955	1.108606	-0.412098750142697	0.24642	1.35055	0.999988408478833	0.51787	0.542737	0.22433	0	0.685571	0.66316	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.57	3.5	0.39181	0.621000	0.24112	6.407000	0.55588	0.587000	0.30956	0.000000	0.06391	1.000000	0.68203	0.982000	0.59238	0.6766:0.3234:0.0:0.0	8.342	0.31413	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004242	0.000000	0.005571	0.009375	0.000000	0.018519	0.006803	0.003906	0.07143	670.49	22	chr19	46624182	.	A	G	670.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.51;DP=188;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0.078;SOR=0.85	GT:AD:DP:GQ:PL	0/1:17,30:47:99:681,0,433	6	0	1	0
chr19	46693997	46693997	G	A	exonic	PRKD2	.	nonsynonymous SNV	PRKD2:NM_001079882:exon9:c.C983T:p.T328I,PRKD2:NM_016457:exon10:c.C1454T:p.T485I,PRKD2:NM_001079880:exon11:c.C1454T:p.T485I,PRKD2:NM_001079881:exon11:c.C1454T:p.T485I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.0130512290046	.	.	8.343e-06	0	0	0	0	1.52e-05	0	0	6.5e-06	1	154602	rs770816078	1.574e-05	1.573e-05	1.634e-05	1.513e-05	2.068e-05	1.048e-05	8.75e-06	1.377e-05	1.15e-05	0	0	0	0	0	0	2.068e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.20912	T	0.182	0.29249	T	0.002	0.09854	B	0.084	0.29270	B	0.294139	0.14714	N	0.614785	0.975348	0.25439	N	0.805	0.20218	L	1.99	0.21666	T	-0.22	0.10480	N	0.115	0.10340	-1.0343	0.19078	T	0.031	0.13286	T	10	0.11669639	0.22021	T	0.013051	0.32145	T	0.038	0.09825	0.338	0.32816	0.251679625132	0.24793	0.3547177071514056	0.35385	0.892229731964	0.70259	0.456803798676	0.32873	T	0.195766	0.55195	T	-0.240699	0.15260	T	-0.583524	0.14232	T	0.172908574342728	0.18776	T	0.20418	0.03603	T	0.049780384	0.08892	0.09704183	0.23083	0.049780384	0.08891	0.09704183	0.23082	-6.145	0.47623	T	0.10032903409661288	0.07389	0.068	0.04238	B	.;.;.;.;.	.;.;.;.;.	2.421700	0.31137	18.65	0.95918467061424328	0.28181	0.92652	0.56217	D	AEFDBI	0.279146	0.39326	N	-0.332473311150352	0.27920	1.535825	-0.150390410237675	0.33393	1.909704	0.0339309556260548	0.14129	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.73	4.73	0.59485	2.838000	0.47900	6.434000	0.55639	0.676000	0.76740	0.902000	0.31475	1.000000	0.68203	0.551000	0.30197	0.0902:0.0:0.9098:0.0	11.270	0.48364	929	0.16858	.;Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1173.45	35	chr19	46693997	.	G	A	1173.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.99;DP=279;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=1.49;SOR=0.682	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1150	6	0	1	0
chr19	47260787	47260787	C	A	exonic	CCDC9	.	stopgain	CCDC9:NM_015603:exon5:c.C410A:p.S137X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196192	0.16718	N	0.571207	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.096	0.07673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.522349	0.94964	D	0.512542	0.94890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	6.351572	0.95064	34	0.97943263427019678	0.37050	0.58690	0.30710	D	AEFDBI	0.072587	0.14491	N	0.131885713314844	0.47955	3.014122	-0.102459162150582	0.35290	2.039995	0.00869962407883374	0.11723	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	3.32	2.27	0.27501	0.657000	0.24647	1.667000	0.27933	-0.275000	0.06596	0.028000	0.20300	0.004000	0.18990	0.015000	0.10482	0.0:0.8826:0.0:0.1174	8.805	0.34093	660	0.61921	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	53.63	35	chr19	47260787	.	C	A	53.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.512;DP=225;ExcessHet=0;FS=31.793;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.09;ReadPosRankSum=1.17;SOR=5.549	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1391	6	0	1	0
chr19	47802464	47802464	T	G	exonic	TPRX1	.	nonsynonymous SNV	TPRX1:NM_198479:exon2:c.A547C:p.N183H	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00201700047909	.	0.00159744	0.0025	0	0	0	0	0	0	0.0062	0.000401	62	154602	rs565862733	0.0004	0.0004	0.0002	0.0006	0.0065	0.0004	0.0004	0.0061	0.0059	0	2.877e-05	0	2.869e-05	0	0.0002	4.489e-05	0.0005	0.0065	0.0002	0.0002	0.0002	0.0003	0.0071	0.0002	0.0001	0.0051	0.0045	7.989e-05	0	0	0	0	0	0	0	0	0.0071	0.12	0.27904	T	0.127	0.36101	T	0.117	0.26519	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.97	0.42502	T	-0.25	0.12661	N	0.095	0.07535	-1.0580	0.12260	T	0.044	0.18989	T	8	0.003819555	0.00072	T	0.002017	0.03668	T	0.021	0.04004	0.277	0.23004	0.0138822411134	0.00435	0.07182126034545522	0.07119	0.0627670905569	0.06987	0.374797254801	0.21517	T	0.005955	0.07302	T	-0.663983	0.00059	T	-0.723374	0.04634	T	0.0290155054705344	0.01839	T	0.387561	0.20478	T	0.061521187	0.12748	0.06512457	0.13154	0.061521187	0.12747	0.06512457	0.13153	-9.083	0.68229	D	.	.	0.238	0.53846	B	.;.;.	.;.;.	-0.233914	0.02923	0.425	0.2164019746733177	0.00834	0.00063	0.00458	N	AEFBI	0.026550	0.02014	N	-2.43192042321675	0.00023	0.0009879505	-2.53515697672799	0.00019	0.000845184	0.943852554870737	0.27589	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	0.303	-0.607	0.11033	-3.505000	0.00500	-3.693000	0.02601	-4.064000	0.00044	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	912	0.21483	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004480	0.000000	0.000000	0.004032	0.000000	0.000000	0.005000	0.015873	0.07143	642.53	41	chr19	47802464	.	T	G	642.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.16;DP=245;ExcessHet=0;FS=2.524;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-1.224;SOR=1.138	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,100,1299	6	0	1	0
chr19	47802950	47802950	C	T	exonic	TPRX1	.	nonsynonymous SNV	TPRX1:NM_198479:exon2:c.G61A:p.A21T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.179139376124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.565e-06	4.104e-06	4.236e-06	2.88e-06	4.584e-06	1.04e-06	7.6e-07	1.34e-06	9.8e-07	0	0	0	0	0	0	4.584e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.056	0.51737	T	0.684	0.41517	P	0.106	0.31143	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	-3.72	0.95528	D	-1.24	0.33598	N	0.089	0.08646	-0.1485	0.78952	T	0.646	0.87645	D	9	0.12844023	0.24433	T	0.179139	0.85403	D	0.308	0.62947	0.262	0.20631	0.49908893446	0.49543	0.3047607457654138	0.30389	0.0594577164127	0.06608	0.637289881706	0.58179	T	0.018743	0.16841	T	-0.0137623	0.49737	T	-0.257545	0.49069	T	0.149636450717668	0.17074	T	0.512349	0.34112	T	0.061200447	0.12646	0.09270531	0.21862	0.061200447	0.12646	0.09270531	0.21861	-8.059	0.61472	D	.	.	0.277	0.61020	B	.;.;.	.;.;.	0.188262	0.05748	2.192	0.92850274133466348	0.22389	0.00655	0.02844	N	AEFDBI	0.029838	0.02891	N	-1.10568404678302	0.06541	0.3013989	-1.29782192286162	0.04460	0.210441	8.59217441125104E-4	0.07917	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	1.4	-1.21	0.09033	-1.441000	0.02516	-2.505000	0.03673	-0.322000	0.05848	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4628:0.5372:0.0:0.0	5.623	0.16744	912	0.21483	Homeobox domain|Homeobox domain;Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|Homeobox domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	45.53	25	chr19	47802950	.	C	T	45.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.13;DP=207;ExcessHet=0;FS=2.269;MLEAC=1;MLEAF=0.071;MQ=57.97;MQRankSum=-0.106;QD=1.82;ReadPosRankSum=-1.113;SOR=1.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,100,1299:.	6	0	1	0
chr19	48099738	48099738	G	A	exonic	PLA2G4C	.	nonsynonymous SNV	PLA2G4C:NM_001159322:exon5:c.C410T:p.A137V,PLA2G4C:NM_001159323:exon5:c.C380T:p.A127V,PLA2G4C:NM_003706:exon5:c.C380T:p.A127V	.	417	1100	4	1	0	6	0.00271985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0099631597752	0.0016	0.000599042	0.0018	0.0005	0.0019	0	0.0002	0.0027	0.0033	0.0009	0.0018693	289	154602	rs11564532	0.0019	0.0019	0.0019	0.0019	0.0022	0.0019	0.0019	0.0021	0.0021	0.0002	0.0022	0.0028	0	0.0006	0.0016	0.0022	0.0016	0.0007	0.0019	0.0019	0.0021	0.0018	0.0031	0.0017	0.0017	0.0028	0.0027	0.0004	0	0.0029	0.0029	0	0.0003	0	0.0031	0.0014	0.0006	0.315	0.13789	T	0.019	0.59159	D	0.997	0.70673	D	0.856	0.61001	P	0.226384	0.03489	U	1.862780	1	0.08975	N	2.36	0.67893	M	3.68	0.04151	T	-2.35	0.51968	N	0.109	0.09914	-1.0513	0.14036	T	0.043	0.18659	T	10	0.0060230196	0.00135	T	0.009963	0.25923	T	0.065	0.18881	.	.	0.280181792013	0.27631	0.32531433143569394	0.32444	0.463405145247	0.45849	0.426995038986	0.28798	T	0.003431	0.02839	T	-0.604325	0.00137	T	-0.643583	0.09410	T	0.0271252566033526	0.01562	T	0.574243	0.20591	T	0.21788834	0.44282	0.2834914	0.54342	0.21788834	0.44282	0.2834914	0.54341	-8.258	0.63831	D	.	.	0.371	0.70852	A	.;.;.	.;.;.	2.698264	0.35241	19.85	0.99849821432138841	0.92925	0.06077	0.12050	N	AEFBI	0.048232	0.08209	N	-0.123316204986333	0.36378	2.101981	-0.323948811774715	0.27327	1.515581	7.63816172512243E-4	0.07776	0.706298	0.61202	0	0.633656	0.55848	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	3.17	3.17	0.35510	0.857000	0.27486	3.448000	0.38427	0.435000	0.21004	0.002000	0.15269	0.143000	0.23109	0.588000	0.31090	0.0:0.0:1.0:0.0	10.143	0.41919	819	0.41190	.;.;Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	951.63	35	chr19	48099738	.	G	A	951.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.467;DP=287;ExcessHet=0;FS=0.756;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.33;ReadPosRankSum=-0.593;SOR=0.854	GT:AD:DP:GQ:PL	0/1:59,43:102:99:962,0,1355	6	0	1	0
chr19	48297459	48297459	-	GCG	exonic	CCDC114	.	nonframeshift insertion	CCDC114:NM_144577:exon14:c.1529_1530insCGC:p.A510_K511insA,CCDC114:NM_001364171:exon16:c.1640_1641insCGC:p.A547_K548insA	Ciliary dyskinesia, primary, 20, Autosomal recessive	411	1105	6	0	0	6	0.00270758	.	.	.	403767	ODAD1-related_disorder|Primary_ciliary_dyskinesia	.|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0005	0.0001	9.638e-05	0.0004	0	0.0004	0	0.0017	0.0002689	7	26028	rs761748771	0.0005	0.0005	0.0004	0.0005	0.0023	0.0004	0.0004	0.0021	0.0020	3.007e-05	0.0001	0.0047	0.0001	2.18e-05	0.0023	0.0002	0.0006	0.0023	0.0004	0.0004	0.0004	0.0003	0.0008	0.0003	0.0003	0.0003	0.0003	4.814e-05	0	0.0002	0.0040	0.0002	0.0002	0	0.0004	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	755.79	26	chr19	48297459	.	C	CGCG	755.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.137;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=29.07;ReadPosRankSum=-1.505;SOR=0.573	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr19	48320349	48320349	G	A	exonic	CCDC114	.	nonsynonymous SNV	CCDC114:NM_001364171:exon3:c.C20T:p.A7V	Ciliary dyskinesia, primary, 20, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1054075697	8.799e-07	4.104e-06	1.727e-06	0	1.087e-06	0	0	.	.	0	0	0	0	0	0	1.087e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	32.7	3	chr19	48320349	.	G	A	32.7	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-1.383;DP=7;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.5;MQ=60;MQRankSum=0;QD=8.18;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	1	0	1	5
chr19	48360128	48360128	C	A	exonic	TMEM143	.	nonsynonymous SNV	TMEM143:NM_001303539:exon3:c.G313T:p.A105S,TMEM143:NM_018273:exon3:c.G313T:p.A105S	.	426	1092	4	0	0	4	0.00182815	.	.	.	2287601	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.040	0.00846746230279	0.0005	.	0.0005	9.626e-05	0.0007	0	0.0003	0.0007	0.0011	0.0004	0.0004075	63	154602	rs143735444	0.0004	0.0004	0.0003	0.0004	0.0014	0.0004	0.0003	0.0007	0.0005	0.0002	0.0006	0.0065	0	0.0004	0.0014	0.0002	0.0008	0.0006	0.0004	0.0004	0.0004	0.0004	0.0004	0.0003	0.0003	0.0003	0.0002	2.413e-05	0	0.0002	0.0075	0	0.0008	0	0.0004	0.0010	0.0002	0.429	0.09572	T	0.817	0.03863	T	0.012	0.16265	B	0.004	0.10090	B	0.317215	0.14332	N	0.628659	0.999844	0.29134	N	1.43	0.35840	L	0.92	0.44856	T	-0.5	0.15782	N	0.197	0.21710	-1.0618	0.11312	T	0.094	0.35738	T	10	0.0057735145	0.00129	T	0.008467	0.22407	T	0.040	0.10527	.	.	0.165133752707	0.16062	0.36666098106557127	0.36580	0.215895403464	0.24118	0.326263427734	0.14370	T	0.013089	0.20164	T	-0.465419	0.00909	T	-0.563588	0.16040	T	0.01774394325912	0.00504	T	0.59994	0.23656	T	0.027854983	0.02037	0.037503187	0.03416	0.027854983	0.02036	0.037503187	0.03416	-3.113	0.11446	T	.	.	0.082	0.17911	B	.;.;.	.;.;.	0.821092	0.11921	8.485	0.99220687843107636	0.55901	0.10195	0.15768	N	AEFI	0.072989	0.14584	N	-0.511233488591844	0.21715	1.154523	-0.49510902290157	0.22288	1.209831	0.239326282176968	0.18553	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.74	1.12	0.19700	0.562000	0.23235	0.104000	0.14688	-0.313000	0.06017	0.394000	0.26121	0.003000	0.18671	0.711000	0.34484	0.2088:0.5474:0.0:0.2439	3.046	0.05782	952	0.10565	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003024	0.005051	0.006793	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	936.27	34	chr19	48360128	.	C	A	936.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.405;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.708;SOR=0.761	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	5	0	1	1
chr19	48376227	48376227	G	A	exonic	SYNGR4	.	nonsynonymous SNV	SYNGR4:NM_012451:exon5:c.G614A:p.G205D	.	426	1091	5	0	0	5	0.00228624	.	.	.	2323472	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00673333208439	7.7e-05	.	0.0001	0	0	0	0	7.495e-05	0	0.0007	0.00011	17	154602	rs376987626	5.609e-05	5.609e-05	5.173e-05	6.05e-05	0.0009	4.61e-05	4.236e-05	0.0003	0.0003	0	0	0	0	0	0.0009	3.597e-05	3.312e-05	0.0004	3.947e-05	3.941e-05	3.858e-05	4.041e-05	8.822e-05	1.717e-05	1.131e-05	3.763e-05	2.576e-05	0	0	0	0	0	0	0	8.822e-05	0	0	0.059	0.37536	T	0.1	0.38742	T	0.003	0.11197	B	0.005	0.11217	B	0.782057	0.06660	N	1.106500	1	0.08975	N	1.91	0.51138	L	0.66	0.52416	T	-0.82	0.22508	N	0.212	0.23632	-1.0248	0.22148	T	0.066	0.27364	T	10	0.0410825	0.02731	T	0.006733	0.17784	T	0.023	0.04649	.	.	0.119812018005	0.11559	0.5637676839706233	0.56303	0.108005847181	0.12179	0.318521022797	0.13197	T	0.005058	0.04495	T	-0.415446	0.01830	T	-0.485105	0.23906	T	0.0256853442608764	0.01363	T	0.39716	0.10029	T	0.062384624	0.13023	0.0844063	0.19415	0.062384624	0.13023	0.0844063	0.19415	-3.393	0.14963	T	.	.	0.088	0.11606	B	.	.	0.883687	0.12567	9.098	0.74997127712640554	0.10906	0.04328	0.09886	N	AEFGBI	0.060576	0.11522	N	-1.14096661805891	0.05930	0.271654	-1.1409621818824	0.06932	0.3353432	4.41434649992815E-5	0.03989	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.3	-1.2	0.09062	0.379000	0.20315	2.532000	0.33172	-0.153000	0.12021	0.254000	0.24889	0.083000	0.22416	0.062000	0.16114	0.2434:0.2788:0.3348:0.1431	1.212	0.01790	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1330.46	105	chr19	48376227	.	G	A	1330.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.104;DP=289;ExcessHet=0;FS=0.726;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=0.215;SOR=0.804	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr19	48703267	48703267	C	T	exonic	FUT2	.	nonsynonymous SNV	FUT2:NM_000511:exon2:c.C311T:p.A104V,FUT2:NM_001097638:exon2:c.C311T:p.A104V	.	419	1054	48	1	0	50	0.0231696	.	.	.	984434	Familial_Otitis_Media	.	no_assertion_criteria_provided	confers_sensitivity	.	.	.	.	.	.	.	.	0.779	.	0.0006	0.00319489	0.0039	0.0002	0.0015	0.0001	0	0.0014	0.0080	0.0210	0.0032923	509	154602	rs149356814	0.0019	0.0019	0.0013	0.0025	0.0206	0.0019	0.0018	0.0198	0.0195	0.0001	0.0010	0.0028	7.557e-05	1.892e-05	0.0116	0.0006	0.0025	0.0206	0.0013	0.0013	0.0012	0.0014	0.0194	0.0012	0.0011	0.0162	0.0150	9.624e-05	0	0.0011	0.0037	0	0	0.0102	0.0010	0.0019	0.0194	0.039	0.42487	D	0.019	0.59159	D	0.999	0.77913	D	0.982	0.75477	D	.	.	.	.	0.941004	0.37318	D	2.965	0.85198	M	-4.16	0.96826	D	-3.22	0.64939	D	0.558	0.81360	1.135	0.99931	D	0.939	0.97982	D	9	0.01712045	0.00364	T	.	.	.	0.779	0.92623	.	.	0.982550369732	0.98236	0.44415395212301567	0.44333	0.733435026441	0.62845	0.430974453688	0.29342	T	0.131596	0.46118	T	0.0547111	0.58947	T	0.265279	0.86341	D	0.0505083253708795	0.05590	T	0.894311	0.63332	D	0.28840944	0.51844	0.36057407	0.61497	0.36899018	0.58511	0.33836746	0.59615	-8.024	0.61234	D	.	.	0.322	0.54638	B	.;.;.	.;.;.	3.915589	0.57135	23.8	0.99915014806242197	0.98309	0.97369	0.74314	D	AEFGBI	0.579516	0.58029	D	0.583976673298565	0.72176	5.764432	0.441392951124102	0.64165	4.665643	0.532866957730309	0.21190	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.622129	0.49086	0	.	.	4.19	4.19	0.48645	4.729000	0.61702	4.155000	0.42174	0.589000	0.31548	0.994000	0.38300	0.999000	0.35428	0.091000	0.17840	0.0:1.0:0.0:0.0	14.405	0.66645	878	0.29785	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.007560	0.000000	0.006793	0.000000	0.000000	0.008621	0.015244	0.011364	0.07143	1199.63	47	chr19	48703267	.	C	T	1199.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.38;DP=352;ExcessHet=0;FS=3.371;MLEAC=1;MLEAF=0.071;MQ=52.43;MQRankSum=-0.131;QD=10.17;ReadPosRankSum=0.49;SOR=0.449	GT:AD:DP:GQ:PL	0/1:65,53:118:99:1210,0,1640	6	0	1	0
chr19	48703291	48703291	C	T	exonic	FUT2	.	nonsynonymous SNV	FUT2:NM_000511:exon2:c.C335T:p.P112L,FUT2:NM_001097638:exon2:c.C335T:p.P112L	.	419	1072	29	2	0	33	0.0151585	.	.	.	984435	Familial_Otitis_Media	.	no_assertion_criteria_provided	confers_sensitivity	.	.	.	.	.	.	.	.	0.734	.	0.0002	0.0373403	0.0191	0.0017	0.0017	0.0001	0	0.0002	0.0080	0.1352	0.0161511	2497	154602	rs200157007	0.0085	0.0085	0.0045	0.0125	0.1355	0.0083	0.0083	0.1334	0.1326	0.0009	0.0015	3.826e-05	0.0003	0	0.0057	0.0001	0.0075	0.1355	0.0055	0.0055	0.0028	0.0083	0.1580	0.0052	0.0050	0.1486	0.1449	0.0009	0	0.0016	0	0.0010	0	0	0.0001	0.0028	0.1580	0.0	0.91255	D	0.002	0.79402	D	0.985	0.61118	D	0.753	0.56122	P	.	.	.	.	0.999705	0.48408	D	3.005	0.85968	M	-3.99	0.96308	D	-8.71	0.97656	D	0.365	0.40665	0.938	0.96210	D	0.914	0.97163	D	9	0.0043191016	0.00087	T	.	.	.	0.734	0.90721	.	.	.	.	0.57160739618024	0.57088	0.681278943641	0.60039	0.493828564882	0.37970	T	0.194935	0.55086	T	0.0583719	0.59409	T	0.265519	0.86352	D	0.091322503377181	0.11374	T	0.989801	0.96720	D	0.5129859	0.67853	0.48962316	0.70470	0.525641	0.68583	0.5260209	0.72616	-13.0	0.89364	D	.	.	0.656	0.71435	P	.;.;.	.;.;.	3.676686	0.52308	23.2	0.99745540007452138	0.83852	0.80024	0.39775	D	AEFBI	0.245940	0.36678	N	0.231645178045518	0.52736	3.446166	0.0461554953908435	0.41885	2.52402	2.69943540582741E-4	0.06244	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.622129	0.49086	0	.	.	4.66	2.52	0.29514	3.221000	0.50917	4.382000	0.43185	0.589000	0.31548	0.970000	0.34288	0.996000	0.32793	0.083000	0.17415	0.0:0.817:0.0:0.183	9.142	0.36072	878	0.29785	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.016633	0.000000	0.004076	0.020468	0.000000	0.000000	0.003049	0.071970	0.07143	825.63	47	chr19	48703291	.	C	T	825.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.149;DP=367;ExcessHet=0;FS=3.679;MLEAC=1;MLEAF=0.071;MQ=54.97;MQRankSum=0.124;QD=14.24;ReadPosRankSum=-1.392;SOR=0.773	GT:AD:DP:GQ:PL	0/0:118,0:118:99:0,120,1800	6	0	1	0
chr19	48739416	48739416	T	G	exonic	RASIP1	.	nonsynonymous SNV	RASIP1:NM_017805:exon3:c.A367C:p.K123Q	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.167836899474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.073e-07	1.368e-06	1.575e-06	0	9.909e-07	0	0	.	.	0	0	0	0	0	0	9.909e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.125	0.35330	T	0.652	0.40767	P	0.113	0.31689	B	0.003130	0.35389	N	0.224065	0.993959	0.23615	N	0.695	0.17993	N	3.1	0.08283	T	-1.18	0.30140	N	0.211	0.23506	-0.9713	0.36925	T	0.013	0.05129	T	10	0.1561375	0.29413	T	0.167837	0.84610	D	0.071	0.20720	0.124	0.03018	0.225033846419	0.22103	0.26911885733023766	0.26824	2.79161734065	0.98858	0.928499042988	0.98900	D	0.088577	0.38189	T	-0.336569	0.05629	T	-0.721234	0.04736	T	0.545526444911957	0.34310	D	0.661134	0.27033	T	0.16635531	0.36966	0.1275921	0.30711	0.16635531	0.36965	0.1275921	0.30711	-4.018	0.24072	T	.	.	0.407	0.59986	A	.	.	3.729589	0.53338	23.4	0.99007613948683582	0.50293	0.42886	0.26977	N	AEFDBHCI	0.270078	0.38622	N	-0.131789569322662	0.36013	2.075989	-0.0389238827105896	0.37973	2.230765	0.999999999810542	0.74766	0.495885	0.18260	0	0.491552	0.07993	0	0.608004	0.38603	0	0.581474	0.35302	0	.	.	3.85	3.85	0.43556	0.573000	0.23401	5.638000	0.49139	0.539000	0.25131	0.848000	0.30412	1.000000	0.68203	0.985000	0.61073	0.0:0.0:0.0:1.0	10.901	0.46261	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	429.27	11	chr19	48739416	.	T	G	429.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.539;DP=132;ExcessHet=0;FS=2.57;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=20.44;ReadPosRankSum=-1.158;SOR=0.991	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1077	5	0	1	1
chr19	48888114	48888114	G	A	exonic	TULP2	.	nonsynonymous SNV	TULP2:NM_003323:exon8:c.C784T:p.R262C	.	.	.	.	.	.	.	.	.	.	.	2242084	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.175	0.0476949798999	7.7e-05	0.000599042	6.603e-05	0	8.652e-05	0	0	0.0001	0	0	7.76e-05	12	154602	rs139664178	1.847e-05	1.847e-05	1.906e-05	1.788e-05	0.0003	1.265e-05	1.084e-05	6.094e-05	2.522e-05	2.987e-05	0	0	0	5.616e-05	0.0003	1.529e-05	4.967e-05	1.159e-05	3.939e-05	3.937e-05	2.569e-05	5.37e-05	0.0002	1.714e-05	1.129e-05	1.972e-05	1.124e-05	0	0	6.54e-05	0	0.0002	0	0	5.88e-05	0	0	0.002	0.72154	D	0.054	0.47097	T	0.083	0.24734	B	0.015	0.17295	B	0.429674	0.04697	N	1.321480	1	0.08975	N	0.55	0.14455	N	-1.79	0.83815	D	-2.03	0.46673	N	0.294	0.33250	-0.8045	0.54879	T	0.261	0.63219	T	10	0.051667303	0.05084	T	0.047695	0.63038	D	0.175	0.44197	.	.	0.146414634003	0.14194	0.38713810995251113	0.38628	0.167635584131	0.18903	0.298270821571	0.10144	T	0.007797	0.07183	T	-0.109401	0.34866	T	-0.214627	0.53253	T	0.0399743695469365	0.03685	T	0.464953	0.20891	T	0.06902541	0.15089	0.060464237	0.11518	0.06902541	0.15088	0.060464237	0.11517	-3.865	0.21779	T	.	.	0.081	0.16319	B	.;.	.;.	0.726397	0.10958	7.620	0.79961021563450907	0.12980	0.03265	0.08300	N	AEFBI	0.135941	0.25643	N	-1.71029671938129	0.00806	0.0348308	-1.83088709962727	0.00665	0.02959333	0.0361280162429694	0.14231	0.740787	0.97801	0	0.588066	0.40923	0	0.767554	0.98243	0	0.613276	0.41899	0	.	.	4.52	-7.49	0.01212	0.581000	0.23520	0.358000	0.17546	-1.864000	0.00559	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3849:0.0:0.1841:0.4309	4.642	0.11943	720	0.55521	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	520.44	34	chr19	48888114	.	G	A	520.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.18;DP=234;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.743;SOR=0.54	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	6	0	1	0
chr19	48971014	48971014	G	A	exonic	GYS1	.	nonsynonymous SNV	GYS1:NM_001161587:exon12:c.C1367T:p.T456M,GYS1:NM_002103:exon13:c.C1559T:p.T520M	Glycogen storage disease 0, muscle, Autosomal recessive	0	1515	6	1	0	8	0.00263331	.	.	.	1013820	Glycogen_storage_disease_due_to_muscle_and_heart_glycogen_synthase_deficiency|Inborn_genetic_diseases	MONDO:MONDO:0012693,MedGen:C1969054,OMIM:611556,Orphanet:137625|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.723	0.0701344524882	.	.	4.121e-05	9.623e-05	0	0	0	4.497e-05	0	6.056e-05	3.23e-05	5	154602	rs747911098	4.314e-05	4.788e-05	4.907e-05	3.716e-05	0.0005	3.446e-05	3.132e-05	0.0001	7.546e-05	5.98e-05	2.236e-05	0	0	0	0.0005	4.412e-05	9.942e-05	2.32e-05	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.414e-05	5.24e-06	2.45e-06	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0.0005	0	0.017	0.91255	D	0.03	0.54159	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.595	0.75868	M	-0.35	0.68616	T	-4.5	0.79143	D	0.876	0.87808	0.098	0.84136	D	0.520	0.82086	D	10	0.8944361	0.88794	D	0.070134	0.70920	D	0.723	0.90235	0.769	0.89609	0.888212881463	0.88710	0.8020781757940303	0.80161	1.31590279658	0.83328	0.912264168262	0.97680	D	0.81263	0.95333	D	0.248356	0.78447	D	0.300497	0.88219	D	0.826490879058838	0.48260	D	0.986301	0.95349	D	0.38088638	0.59380	0.31052956	0.57063	0.38088638	0.59381	0.31052956	0.57063	-8.739	0.66001	D	0.5105288604686391	0.58434	0.759	0.78358	P	.;.	.;.	5.569122	0.92204	32	0.99918968616714032	0.98586	0.98092	0.79530	D	ALL	0.953129	0.96916	D	0.925026867894932	0.92931	11.71597	0.884286552231018	0.94850	13.09536	1.0	0.98316	0.675202	0.55065	0	0.67197	0.64623	0	0.779548	0.98927	0	0.636	0.56748	0	.	.	5.34	5.34	0.75982	9.571000	0.97334	11.489000	0.92919	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	16.920	0.86029	705	0.57330	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	663.27	35	chr19	48971014	.	G	A	663.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.292;DP=240;ExcessHet=0;FS=1.99;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=-0.494;SOR=0.693	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1268	5	0	1	1
chr19	49035894	49035894	C	T	exonic	CGB1	.	nonsynonymous SNV	CGB1:NM_001382421:exon3:c.G148A:p.V50M,CGB1:NM_033377:exon3:c.G184A:p.V62M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.530	0.299529620539	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.721e-06	4.811e-06	4.841e-06	6.624e-06	0.0008	2.38e-06	1.53e-06	0.0002	0.0001	0	0	0	0	0	0.0008	2.112e-06	0	2.827e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.06	0.45744	T	1.0	0.90584	D	0.991	0.79672	D	0.000728	0.42129	D	0.000000	0.99663	0.43321	D	.	.	.	-2.93	0.91800	D	-2.49	0.54217	N	0.554	0.57946	0.757	0.93883	D	0.836	0.94510	D	9	0.7732707	0.77254	D	0.29953	0.90835	D	0.530	0.80188	0.659	0.79689	0.809706314812	0.80792	0.17742884485836258	0.17661	2.39889414524	0.97143	0.815648317337	0.84360	D	.	.	.	0.128789	0.67242	D	-0.0527806	0.66832	D	0.887084782123566	0.53755	D	0.879912	0.59649	D	.	.	.	.	.	.	.	.	-6.335	0.48999	T	.	.	0.564	0.67361	A	.;.	.;.	4.202118	0.63414	24.6	0.99326135727349241	0.59584	0.83201	0.42338	D	AEFI	0.189817	0.31706	N	-0.00110962223768837	0.41805	2.507153	-0.210714969076238	0.31150	1.760218	5.4014842695761E-4	0.07248	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.79	1.79	0.23992	5.245000	0.65227	3.343000	0.37723	0.304000	0.19002	0.999000	0.42656	0.998000	0.33993	0.010000	0.09038	0.0:1.0:0.0:0.0	9.617	0.38865	774	0.48577	.;Glycoprotein hormone subunit beta	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	47.11	2	chr19	49035894	.	C	T	47.11	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.674;DP=18;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=28.24;MQRankSum=0.674;QD=11.78;ReadPosRankSum=0.674;SOR=0.105	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,74	5	0	1	1
chr19	49061735	49061735	G	A	exonic	NTF4	.	nonsynonymous SNV	NTF4:NM_006179:exon2:c.C263T:p.A88V	Glaucoma 1, open angle, 1O	1	1467	51	3	0	57	0.0190572	.	.	.	29056	not_provided|Glaucoma_1,_open_angle,_O|Intellectual_disability,_X-linked_99	MedGen:C3661900|MONDO:MONDO:0013134,MedGen:C2751294,OMIM:613100|MONDO:MONDO:0010487,MedGen:C3806746,OMIM:300919,Orphanet:777	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.334	.	0.0023	0.00579073	0.0059	0.0006	0.0021	0.0002	0	0.0041	0.0142	0.0215	0.0043143	667	154602	rs61732310	0.0034	0.0034	0.0029	0.0039	0.0178	0.0033	0.0033	0.0171	0.0168	0.0005	0.0017	0.0063	2.527e-05	0.0005	0.0163	0.0026	0.0040	0.0178	0.0025	0.0025	0.0024	0.0026	0.0189	0.0023	0.0022	0.0157	0.0146	0.0004	0.0121	0.0018	0.0055	0	0.0008	0.0136	0.0030	0.0038	0.0189	.	.	.	0.483	0.11795	T	0.999	0.77913	D	0.6	0.50752	P	0.130810	0.18645	N	0.405273	5.87488e-05	0.19238	A	-0.695	0.01866	N	-0.17	0.65563	T	.	.	.	0.324	0.36464	-0.9848	0.33879	T	0.090	0.34546	T	10	0.02159813	0.00520	T	.	.	.	.	.	.	.	0.779305911428	0.77726	0.24109617930085175	0.24023	.	.	0.545061886311	0.45161	T	0.224577	0.58905	T	-0.256087	0.13362	T	-0.126348	0.61278	T	0.0296463213828842	0.01935	T	0.638636	0.26756	T	0.10771276	0.25470	0.13080947	0.31424	0.1209873	0.28458	0.14495279	0.34394	-4.236	0.27270	T	0.10855820618084228	0.08962	0.118	0.25560	B	.;.	.;.	3.977641	0.58453	24.0	0.99798950836418121	0.88372	0.21620	0.21466	N	AEFDBHCI	0.117629	0.23034	N	-0.199531165461691	0.33154	1.877763	-0.223450324804954	0.30696	1.730661	0.999623941382992	0.41093	0.646311	0.45356	0	0.578056	0.33634	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	3.54	3.54	0.39650	1.654000	0.36950	6.452000	0.55675	0.614000	0.49286	0.954000	0.33273	1.000000	0.68203	0.757000	0.36037	0.0:0.0:1.0:0.0	11.307	0.48576	856	0.34373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011616	0.000000	0.017663	0.008772	0.050000	0.017241	0.018293	0.011364	0.07143	1338.53	37	chr19	49061735	.	G	A	1338.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.956;DP=278;ExcessHet=0;FS=0.752;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.264;SOR=0.802	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1069	6	0	1	0
chr19	49154453	49154453	-	CATCAT	exonic	HRC	.	nonframeshift insertion	HRC:NM_002152:exon1:c.784_785insATGATG:p.D261_V262insDD	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00698882	0.0056	0.0050	0.0009	0.0076	0.0002	0.0036	0.0050	0.0191	0.0001537	4	26028	rs541138770	0.0052	0.0052	0.0048	0.0057	0.0221	0.0051	0.0051	0.0212	0.0209	0.0056	0.0021	0.0085	0.0090	0.0005	0.0114	0.0040	0.0060	0.0221	0.0055	0.0056	0.0053	0.0057	0.0254	0.0052	0.0051	0.0214	0.0199	0.0060	0.0132	0.0026	0.0096	0.0105	0.0006	0	0.0047	0.0074	0.0254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	7554.63	34	chr19	49154453	.	A	ACATCAT	7554.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.025;DP=442;ExcessHet=0.0509;FS=3.734;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=31.48;ReadPosRankSum=0.503;SOR=0.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:56:99:.:.:2011,2066,2219:.	6	0	1	0
chr19	49171675	49171677	TGG	-	exonic	TRPM4	.	nonframeshift deletion	TRPM4:NM_001321285:exon5:c.107_109del:p.L36_A37delinsP,TRPM4:NM_001321281:exon6:c.611_613del:p.L204_A205delinsP,TRPM4:NM_001321283:exon6:c.434_436del:p.L145_A146delinsP,TRPM4:NM_001195227:exon8:c.956_958del:p.L319_A320delinsP,TRPM4:NM_017636:exon8:c.956_958del:p.L319_A320delinsP	Progressive familial heart block, type IB, Autosomal dominant	1	1516	5	0	0	5	0.00164636	.	.	.	343988	Progressive_familial_heart_block_type_IB|Cardiovascular_phenotype|not_specified|Progressive_familial_heart_block	MONDO:MONDO:0011474,MedGen:C1970298,OMIM:604559,Orphanet:871|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0019490,MedGen:CN230454,OMIM:PS113900,Orphanet:871	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	8e-05	.	0.0003	0	8.666e-05	0	0	6.157e-05	0.0011	0.0015	0.0002135	33	154602	rs764918057	0.0001	0.0001	8.577e-05	0.0002	0.0014	0.0001	0.0001	0.0012	0.0011	8.961e-05	2.236e-05	0	0	0	0.0009	4.407e-05	0.0002	0.0014	3.283e-05	3.281e-05	2.569e-05	4.029e-05	0.0006	1.26e-05	7.97e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002014	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.003788	0.07143	232.4	35	chr19	49171674	.	CTGG	C	232.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=229;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=25.82;ReadPosRankSum=-0.241;SOR=0.368	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1179	6	0	1	0
chr19	49172040	49172040	T	G	exonic	TRPM4	.	nonsynonymous SNV	TRPM4:NM_001321281:exon7:c.T737G:p.L246R,TRPM4:NM_001321283:exon7:c.T560G:p.L187R,TRPM4:NM_001195227:exon9:c.T1082G:p.L361R,TRPM4:NM_017636:exon9:c.T1082G:p.L361R	Progressive familial heart block, type IB, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	178747	Progressive_familial_heart_block_type_IB|Long_QT_syndrome|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0011474,MedGen:C1970298,OMIM:604559,Orphanet:871|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.871	0.348758731805	0.0003	.	0.0003	0	0.0007	0	0.0005	0.0004	0	0.0001	0.0002846	44	154602	rs148763371	0.0003	0.0003	0.0002	0.0003	0.0019	0.0002	0.0002	0.0011	0.0008	8.961e-05	0.0004	0.0011	0	0.0006	0.0019	0.0002	0.0004	0.0001	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	0	0	0.0002	0.0012	0	9.411e-05	0	0.0003	0.0005	0	0.0	0.91255	D	0.002	0.79402	D	0.998	0.77913	D	0.929	0.73562	D	0.000718	0.42254	D	0.106709	0.916975	0.81001	D	2.795	0.81503	M	-2.42	0.88611	D	-5.3	0.84387	D	0.944	0.96871	0.739	0.93652	D	0.794	0.93025	D	10	0.84981203	0.84156	D	0.348759	0.92212	D	0.871	0.96133	.	.	0.914157380237	0.91329	0.9013274671297112	0.90104	1.14750223707	0.79107	0.767600536346	0.77065	T	0.828808	0.95890	D	0.200863	0.73973	D	0.37871	0.91385	D	0.217138170362845	0.21320	T	0.814719	0.46890	T	0.9254242	0.93781	0.83004063	0.90187	0.9254242	0.93781	0.83004063	0.90188	-11.357	0.83451	D	.	.	0.884	0.82298	P	.;.	.;.	4.444754	0.69046	25.3	0.99696066157032781	0.80316	0.97038	0.72331	D	AEFBI	0.652696	0.62600	D	0.668880069156276	0.77595	6.70508	0.616419395579262	0.76130	6.43496	0.40754168567665	0.20184	0.706548	0.73137	0	0.547309	0.14657	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.77	4.77	0.60425	3.206000	0.50800	7.720000	0.67265	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	12.109	0.53129	733	0.53988	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	556.27	33	chr19	49172040	.	T	G	556.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.574;DP=225;ExcessHet=0;FS=0.979;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=-0.357;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1024	5	0	1	1
chr19	49182889	49182889	G	A	exonic	TRPM4	.	stopgain	TRPM4:NM_001321285:exon6:c.G513A:p.W171X,TRPM4:NM_001321281:exon9:c.G1230A:p.W410X,TRPM4:NM_001321283:exon9:c.G1053A:p.W351X,TRPM4:NM_001195227:exon11:c.G1575A:p.W525X,TRPM4:NM_017636:exon11:c.G1575A:p.W525X	Progressive familial heart block, type IB, Autosomal dominant	0	1513	9	0	0	9	0.0029654	.	.	.	243380	not_provided|Sudden_cardiac_death|Cardiovascular_phenotype|Progressive_familial_heart_block_type_IB|not_specified	MedGen:C3661900|EFO:EFO_0004278,Human_Phenotype_Ontology:HP:0001645,Human_Phenotype_Ontology:HP:0005161,MeSH:D016757,MedGen:C0085298|MedGen:CN230736|MONDO:MONDO:0011474,MedGen:C1970298,OMIM:604559,Orphanet:871|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0007	0.000399361	0.0016	0.0004	0.0006	0	0.0065	0.0019	0	0.0008	0.0013195	204	154602	rs71352737	0.0018	0.0018	0.0018	0.0018	0.0054	0.0017	0.0017	0.0039	0.0034	0.0004	0.0002	0	0	0.0051	0.0054	0.0020	0.0012	0.0005	0.0016	0.0016	0.0015	0.0018	0.0022	0.0015	0.0014	0.0020	0.0018	0.0003	0	0.0005	0.0003	0	0.0066	0	0.0022	0.0009	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.601	0.62442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.163103	0.26282	T	-0.0132297	0.69474	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	5.633348	0.92690	32	0.97466819956511719	0.34115	0.07213	0.13237	N	AEFDBI	0.048137	0.08182	N	0.0531138847885988	0.44286	2.705398	-0.37024840436156	0.25888	1.426515	6.99465648457758E-4	0.07645	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	3.44	-0.786	0.10394	0.670000	0.24838	0.612000	0.20040	0.657000	0.54293	0.010000	0.18352	0.031000	0.21272	0.001000	0.02609	0.1435:0.4387:0.4178:0.0	4.739	0.12378	723	0.55174	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002530	0.000000	0.001359	0.005917	0.000000	0.000000	0.006098	0.000000	0.08333	218.27	10	chr19	49182889	.	G	A	218.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.616;DP=79;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-0.432;SOR=0.693	GT:AD:DP:GQ:PL	0/1:9,9:18:99:228,0,282	5	0	1	1
chr19	49395147	49395147	G	A	exonic	KASH5	.	nonsynonymous SNV	KASH5:NM_144688:exon4:c.G190A:p.V64M	.	416	1097	8	1	0	10	0.00453721	.	.	.	3226491	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.109	.	0.0080	0.00279553	0.0085	0.0013	0.0020	0	0.0291	0.0114	0.0093	0.0020	0.0076713	1186	154602	rs191973091	0.0083	0.0083	0.0083	0.0083	0.0086	0.0082	0.0081	0.0084	0.0084	0.0012	0.0022	0.0100	2.526e-05	0.0293	0.0079	0.0086	0.0068	0.0021	0.0078	0.0078	0.0073	0.0083	0.0096	0.0074	0.0073	0.0089	0.0087	0.0014	0.0230	0.0039	0.0098	0	0.0315	0.0102	0.0096	0.0085	0.0019	0.068	0.35726	T	0.026	0.92824	D	0.999	0.77913	D	0.998	0.88582	D	0.000238	0.47286	D	0.136560	0.874073	0.28159	N	2.125	0.59049	M	-0.02	0.62918	T	-1.59	0.38345	N	0.295	0.33360	-0.6227	0.63876	T	0.273	0.64422	T	10	0.007870406	0.00179	T	.	.	.	0.109	0.30843	.	.	0.735833905816	0.73347	0.6643417488216745	0.66371	0.530887566626	0.50614	0.526997745037	0.42612	T	0.03574	0.23835	T	-0.502887	0.00551	T	-0.485744	0.23837	T	0.0301283277180336	0.02010	T	0.768423	0.40554	T	0.093549944	0.21976	0.15117246	0.35622	0.093549944	0.21976	0.15117246	0.35621	-10.113	0.74586	D	.	.	0.172	0.37727	B	.;.;.;.;.	.;.;.;.;.	3.741900	0.53582	23.4	0.99838031671547356	0.91886	0.77967	0.38400	D	AEFGBI	0.257753	0.37643	N	0.439567380617221	0.63614	4.598544	0.380360262060152	0.60353	4.222107	0.0498018613299952	0.14818	0.497415	0.19182	0	0.547309	0.14657	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.67	3.64	0.40864	2.313000	0.43395	8.407000	0.77118	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.1045:0.0:0.8955:0.0	9.045	0.35505	778	0.48011	Protein KASH5, EF-hand-like domain;Protein KASH5, EF-hand-like domain;Protein KASH5, EF-hand-like domain;Protein KASH5, EF-hand-like domain;Protein KASH5, EF-hand-like domain	.	.	.	.	rs191973091	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.000000	0.004076	0.008772	0.050000	0.008621	0.006098	0.000000	0.07143	483.53	36	chr19	49395147	.	G	A	483.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.283;DP=205;ExcessHet=0;FS=1.711;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.27;ReadPosRankSum=-0.336;SOR=1.179	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1283	6	0	1	0
chr19	49652713	49652713	G	A	exonic	SCAF1	.	nonsynonymous SNV	SCAF1:NM_021228:exon7:c.G2324A:p.G775E	.	265	1247	10	0	0	10	0.00399361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.0303033595875	0.0007	0.000998403	0.0031	0.0007	0.0022	0	0.0039	0.0031	0.0065	0.0045	0.0009508	147	154602	rs182682442	0.0010	0.0010	0.0009	0.0011	0.0030	0.0009	0.0009	0.0027	0.0025	0.0005	0.0006	7.802e-05	2.619e-05	0.0010	0.0028	0.0009	0.0010	0.0030	0.0010	0.0010	0.0010	0.0010	0.0031	0.0009	0.0008	0.0019	0.0015	0.0002	0.0175	0.0011	0	0	0.0009	0	0.0013	0.0014	0.0031	0.017	0.51248	D	0.489	0.11586	T	0.005	0.12996	B	0.004	0.10090	B	0.209092	0.16409	N	0.445392	1	0.08975	N	0	0.06538	N	1.64	0.27822	T	-1.08	0.28084	N	0.254	0.28732	-1.0202	0.23649	T	0.016	0.06425	T	9	0.00406155	0.00079	T	0.030303	0.52646	D	0.039	0.10176	.	.	0.043077524339	0.03247	0.05533791047632273	0.05474	0.820147628991	0.67127	0.750120520592	0.74464	T	0.023764	0.18084	T	-0.560982	0.00250	T	-0.581953	0.14371	T	0.00361394179660227	0.00038	T	0.49875	0.15541	T	0.0573767	0.11411	0.06755219	0.13991	0.0573767	0.11411	0.06755219	0.13990	-4.766	0.34192	T	.	.	0.334	0.55508	B	.	.	2.210627	0.28203	17.72	0.96242393558321571	0.29154	0.24372	0.22373	N	AEFDGBI	0.071491	0.14234	N	-1.08199010070539	0.06975	0.3226574	-1.04895430595164	0.08729	0.4305904	0.889282149890082	0.25809	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.03	-3.07	0.05038	0.208000	0.17212	2.016000	0.30187	-0.148000	0.12190	0.006000	0.17386	1.000000	0.68203	0.974000	0.55675	0.0982:0.2786:0.341:0.2822	2.432	0.04200	783	0.47268	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005061	0.000000	0.009537	0.000000	0.000000	0.000000	0.006135	0.007634	0.07143	1219.53	34	chr19	49652713	.	G	A	1219.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.853;DP=251;ExcessHet=0;FS=0.885;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.05;ReadPosRankSum=1.88;SOR=0.58	GT:AD:DP:GQ:PL	0/1:29,47:76:99:1230,0,804	6	0	1	0
chr19	49667113	49667113	C	T	exonic	BCL2L12	.	nonsynonymous SNV	BCL2L12:NM_001040668:exon3:c.C451T:p.P151S,BCL2L12:NM_001282516:exon3:c.C454T:p.P152S,BCL2L12:NM_001282519:exon3:c.C454T:p.P152S,BCL2L12:NM_001282520:exon3:c.C454T:p.P152S,BCL2L12:NM_001282521:exon3:c.C454T:p.P152S,BCL2L12:NM_001385706:exon3:c.C199T:p.P67S,BCL2L12:NM_138639:exon3:c.C202T:p.P68S	.	424	1087	10	1	0	12	0.00548948	.	.	.	3547036	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.036	0.00682884141679	0.0034	0.00179712	0.0031	0.0006	0.0019	0	0.0053	0.0044	0.0044	0.0008	0.0029495	456	154602	rs149021967	0.0035	0.0035	0.0034	0.0035	0.0052	0.0034	0.0034	0.0037	0.0036	0.0006	0.0026	0.0048	0	0.0060	0.0052	0.0037	0.0036	0.0010	0.0030	0.0030	0.0032	0.0028	0.0047	0.0028	0.0027	0.0043	0.0041	0.0006	0	0.0022	0.0055	0	0.0052	0	0.0047	0.0014	0.0008	0.47	0.24090	T	0.262	0.30339	T	0.026	0.19406	B	0.013	0.16460	B	0.171382	0.17364	N	0.425066	1	0.81001	D	0.255	0.09829	N	1.06	0.55266	T	-2.3	0.52289	N	0.163	0.30118	-1.0256	0.21886	T	0.029	0.12453	T	10	0.0061015785	0.00137	T	0.006829	0.18065	T	0.036	0.09122	.	.	0.381409048467	0.37754	0.2565701123438237	0.25571	0.230311216582	0.25578	0.423245966434	0.28284	T	0.035946	0.23916	T	-0.547874	0.00300	T	-0.556174	0.16739	T	0.00771702741160948	0.00090	T	0.829117	0.49388	T	0.04186527	0.06245	0.04754095	0.06869	0.04186527	0.06244	0.04754095	0.06869	-4.418	0.29800	T	.	.	0.074	0.20508	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.812605	0.23033	15.86	0.95804144498423005	0.27865	0.31051	0.24239	N	AEFGBI	0.192858	0.32000	N	-0.738663509015104	0.14943	0.7487579	-0.601159908185538	0.19463	1.044349	0.999852803573285	0.44174	0.660085	0.49399	0	0.685571	0.66316	0	0.662677	0.59975	0	0.651492	0.60203	0	.	.	3.53	0.229	0.14639	0.472000	0.21827	1.297000	0.25449	0.599000	0.40250	0.998000	0.41325	0.999000	0.35428	0.883000	0.42306	0.0:0.6167:0.0:0.3833	5.464	0.15927	809	0.43032	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004532	0.010101	0.002717	0.002924	0.000000	0.000000	0.012195	0.000000	0.07143	475.46	31	chr19	49667113	.	C	T	475.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.062;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=-2.026;SOR=0.666	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	6	0	1	0
chr19	49686613	49686613	-	C	exonic	PRMT1	.	frameshift insertion	PRMT1:NM_001207042:exon7:c.662dupC:p.Y223Vfs*77,PRMT1:NM_198318:exon9:c.866dupC:p.Y291Vfs*77,PRMT1:NM_001536:exon10:c.920dupC:p.Y309Vfs*77	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	33.4	35	chr19	49686613	.	T	TC	33.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.77;ReadPosRankSum=-1.465;SOR=0.446	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1145	6	0	1	0
chr19	49818345	49818345	G	C	exonic	MED25	.	nonsynonymous SNV	MED25:NM_001378355:exon1:c.G4C:p.V2L,MED25:NM_030973:exon1:c.G4C:p.V2L	Basel-Vanagait-Smirin-Yosef syndrome, Autosomal recessive	2	1518	2	0	0	2	0.000658328	.	.	YES	470418	Charcot-Marie-Tooth_disease|Charcot-Marie-Tooth_disease_type_2	MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.290	0.838103706693	.	.	9.571e-05	0	0.0012	0	0	0	0	8.744e-05	5.82e-05	9	154602	rs780512266	3.063e-05	3.215e-05	3.041e-05	3.086e-05	0.0004	2.322e-05	2.068e-05	0.0002	0.0002	0	0.0004	0	0	0	0.0004	1.456e-05	5.058e-05	8.28e-05	3.284e-05	3.283e-05	2.568e-05	4.034e-05	0.0002	1.261e-05	7.98e-06	5.283e-05	2.834e-05	0	0	0.0002	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.959	0.55135	D	0.757	0.56292	P	0.061958	0.22133	N	0.366776	0.668632	0.33121	D	1.39	0.34934	L	-1.19	0.78427	T	-1.3	0.32590	N	0.434	0.51405	-0.4647	0.69909	T	0.405	0.75536	T	10	0.38739985	0.54642	T	0.838104	0.98748	D	0.290	0.60924	.	.	0.771023738284	0.76892	0.26995544767388363	0.26908	0.934735217051	0.71977	0.937973678112	0.99376	D	0.063755	0.45322	T	-0.151886	0.28016	T	-0.12799	0.61141	T	0.205723570251182	0.20728	T	0.937106	0.76374	D	0.4615719	0.64769	0.5831992	0.75835	0.4615719	0.64769	0.5831992	0.75836	-12.266	0.86122	D	.	.	0.321	0.60172	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.160652	0.62477	24.5	0.98882354656705107	0.47841	0.70783	0.34735	D	ALL	0.681306	0.64470	D	0.310081989023658	0.56666	3.831596	0.296894743271604	0.55357	3.699	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.49	4.49	0.54177	7.067000	0.76435	7.828000	0.70003	0.569000	0.28856	1.000000	0.71638	1.000000	0.68203	0.188000	0.21541	0.0:0.0:1.0:0.0	14.541	0.67585	620	0.66037	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	231.27	17	chr19	49818345	.	G	C	231.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.908;DP=160;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.207;SOR=0.892	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,752	5	0	1	1
chr19	49889981	49889981	C	T	exonic	IL4I1	.	nonsynonymous SNV	IL4I1:NM_001385639:exon8:c.G1282A:p.E428K,IL4I1:NM_152899:exon8:c.G1393A:p.E465K,IL4I1:NM_001258017:exon10:c.G1459A:p.E487K,IL4I1:NM_001258018:exon10:c.G1459A:p.E487K,IL4I1:NM_172374:exon10:c.G1459A:p.E487K	.	429	1091	2	0	0	2	0.000915751	.	.	.	2295794	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.194	0.0902633784849	.	.	0.0004	0	0.0007	0	0	0.0008	0	0	0.0002717	42	154602	rs541635369	0.0005	0.0005	0.0005	0.0004	0.0009	0.0004	0.0004	0.0005	0.0005	6.213e-05	0.0001	0.0008	0	0.0001	0.0009	0.0005	0.0003	0	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	0	0	0.0006	0	0	0	0.0006	0.0009	0.0002	0.405	0.22746	T	0.36	0.16964	T	0.05	0.22331	B	0.005	0.11217	B	0.237424	0.03559	N	1.607040	1	0.08975	N	1.61	0.41143	L	-3.03	0.92307	D	-0.88	0.23808	N	0.073	0.04790	-0.5235	0.67785	T	0.518	0.81966	D	10	0.028167963	0.00952	T	0.090263	0.75484	D	0.194	0.47447	.	.	0.462461958149	0.45873	0.8822674465442181	0.88194	1.16445027033	0.79578	0.378076732159	0.21982	T	0.491899	0.81608	T	-0.337852	0.05539	T	-0.356635	0.38443	T	0.0147849254961072	0.00310	T	0.69993	0.30971	T	0.12821737	0.29981	0.060128633	0.11399	0.12821737	0.29981	0.060128633	0.11398	-4.403	0.29961	T	.	.	0.080	0.16099	B	.;.;.	.;.;.	0.975362	0.13528	10.05	0.96524863973306152	0.30129	0.64407	0.32397	D	AEFDGBHCI	0.225864	0.34989	N	-1.04854299251634	0.07617	0.3544078	-1.08349512610685	0.08025	0.3928071	0.999999999973639	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.503968	0.08637	0	0.683535	0.66460	0	.	.	5.26	-1.29	0.08805	-0.249000	0.08861	0.156000	0.15349	-0.222000	0.07959	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1418:0.4734:0.1381:0.2467	1.693	0.02683	633	0.64743	Amine oxidase;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003067	0.000000	0.004098	0.000000	0.000000	0.000000	0.003145	0.003817	0.07143	727.63	35	chr19	49889981	.	C	T	727.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.173;DP=222;ExcessHet=0;FS=0.988;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-0.69;SOR=0.772	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr19	49979137	49979137	C	T	exonic	VRK3	.	nonsynonymous SNV	VRK3:NM_001025778:exon13:c.G1232A:p.R411H,VRK3:NM_016440:exon14:c.G1382A:p.R461H	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00657438011413	.	0.000998403	0.0006	0	0.0003	0.0002	0	9.02e-05	0.0022	0.0033	0.0004916	76	154602	rs368425122	0.0002	0.0002	0.0001	0.0002	0.0022	0.0002	0.0002	0.0020	0.0019	0	0.0002	0	0.0001	0	0.0003	3.058e-05	0.0004	0.0022	0.0002	0.0002	0.0001	0.0002	0.0033	0.0001	0.0001	0.0021	0.0017	0	0	0.0005	0	0.0004	0	0	1.47e-05	0	0.0033	0.063	0.37750	T	0.154	0.33109	T	0.102	0.25827	B	0.009	0.14300	B	0.008010	0.31069	N	0.305466	1	0.08975	N	2.085	0.57729	M	2.1	0.19990	T	-1.89	0.44094	N	0.182	0.26111	-1.0485	0.14818	T	0.040	0.17106	T	10	0.0070093274	0.00159	T	0.006574	0.17329	T	0.029	0.06676	0.436	0.48828	0.199424873507	0.19547	0.28683792343486614	0.28596	0.182931681064	0.20578	0.21222820878	0.00909	T	0.005487	0.04941	T	-0.546364	0.00307	T	-0.560955	0.16287	T	0.0326267919952983	0.02409	T	0.519848	0.16911	T	0.2219544	0.44784	0.12208161	0.29450	0.2219544	0.44784	0.12208161	0.29449	-4.838	0.36731	T	.	.	0.082	0.10111	B	.;.;.;.;.	.;.;.;.;.	1.384684	0.17965	13.47	0.97669397226215759	0.35247	0.02873	0.07647	N	AEFBI	0.055894	0.10289	N	-0.744449562751051	0.14785	0.7394387	-0.803344611053377	0.14414	0.7530388	1.20011987931937E-4	0.05269	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.711	0.71501	0	.	.	4.82	1.38	0.21262	-0.385000	0.07438	-0.794000	0.07402	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.1742:0.6304:0.0:0.1954	4.821	0.12756	687	0.59234	Protein kinase domain;.;Protein kinase domain;.;Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1701.53	37	chr19	49979137	.	C	T	1701.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.61;DP=279;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.49;ReadPosRankSum=0.239;SOR=0.707	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1063	6	0	1	0
chr19	50045210	50045210	C	T	exonic	ZNF473	.	nonsynonymous SNV	ZNF473:NM_001308424:exon4:c.C731T:p.P244L,ZNF473:NM_001006656:exon5:c.C767T:p.P256L,ZNF473:NM_015428:exon5:c.C767T:p.P256L	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00599445959906	0.0036	0.00119808	0.0032	0.0005	0.0014	0	0.0030	0.0044	0.0022	0.0028	0.0033764	522	154602	rs76128611	0.0048	0.0048	0.0048	0.0047	0.0055	0.0047	0.0046	0.0054	0.0054	0.0006	0.0013	0.0008	0	0.0027	0.0010	0.0055	0.0050	0.0028	0.0029	0.0030	0.0030	0.0029	0.0051	0.0027	0.0026	0.0047	0.0045	0.0009	0	0.0017	0.0014	0	0.0015	0	0.0051	0.0028	0.0015	0.44	0.09430	T	0.041	0.50514	D	0.032	0.20242	B	0.003	0.08700	B	0.600963	0.10959	N	0.770342	1	0.08975	N	-0.92	0.01311	N	2.61	0.13095	T	-4.06	0.74582	D	0.08	0.06990	-0.9571	0.39717	T	0.010	0.03765	T	10	0.006416291	0.00145	T	0.005994	0.15638	T	0.074	0.21613	.	.	0.102598925029	0.09809	0.07900394272979305	0.07835	0.914013942472	0.71174	0.218978345394	0.01252	T	0.023376	0.17856	T	-0.677101	0.00050	T	-0.743881	0.03729	T	0.0340517524969155	0.02646	T	0.237876	0.03380	T	0.022176385	0.00863	0.05592265	0.09900	0.022176385	0.00862	0.05592265	0.09899	-2.582	0.06367	T	.	.	0.239	0.59148	B	.;.;.;.	.;.;.;.	0.302726	0.06781	3.302	0.98583546482496942	0.43271	0.00209	0.01192	N	AEFBHCI	0.078360	0.15808	N	-1.16109953529274	0.05600	0.2556936	-1.14493885573124	0.06859	0.33162	0.00184335288188605	0.08939	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.06	0.657	0.17021	0.137000	0.15816	-0.156000	0.11370	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.2152:0.3853:0.1568:0.2427	0.628	0.00739	735	0.53711	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.003788	0.07143	1650.45	40	chr19	50045210	.	C	T	1650.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.42;DP=315;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.219;SOR=0.69	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1239	6	0	1	0
chr19	50276849	50276849	G	A	exonic	MYH14	.	nonsynonymous SNV	MYH14:NM_024729:exon27:c.G3650A:p.R1217H,MYH14:NM_001077186:exon28:c.G3674A:p.R1225H,MYH14:NM_001145809:exon29:c.G3773A:p.R1258H	Deafness, autosomal dominant 4A, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	3983342	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.464	0.193411197089	.	.	2.564e-05	0	0	0	0	1.557e-05	0	0.0001	1.94e-05	3	154602	rs771510184	1.176e-05	1.163e-05	9.637e-06	1.39e-05	8.135e-05	7.16e-06	5.86e-06	3.773e-05	2.667e-05	0	0	0	0	0.0001	0	2.716e-06	1.688e-05	8.135e-05	1.324e-05	1.318e-05	1.294e-05	1.356e-05	0.0002	2.2e-06	8.2e-07	.	.	0	0	0	0	0	0	0	0	0.0005	0.0002	0.001	0.78490	D	0.002	0.79402	D	0.987	0.61912	D	0.761	0.60472	P	.	.	.	.	0.518695	0.31879	D	1.24	0.30952	L	-1.27	0.79277	T	-3.24	0.65171	D	0.292	0.38027	0.057	0.83373	D	0.457	0.78854	T	9	0.38465258	0.54450	T	0.193411	0.86302	D	0.464	0.76023	0.604	0.73586	0.627990925464	0.62495	0.18943973455174304	0.18861	0.540324238068	0.51227	0.632260799408	0.57466	T	0.658079	0.89705	D	-0.0746953	0.40573	T	-0.248217	0.49993	T	0.659038989926019	0.38853	D	0.983335	0.94463	D	0.16000329	0.35911	0.19495559	0.43147	0.16000329	0.35911	0.19495559	0.43146	-12.884	0.88921	D	0.6886752300152733	0.76608	0.132	0.35705	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.188490	0.87016	29.1	0.99944033492051199	0.99868	0.77353	0.38023	D	AEFDBHCI	0.357859	0.44874	N	0.235904148014727	0.52945	3.465835	0.198496273341694	0.49764	3.175847	0.999046901701961	0.38290	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	3.35	3.35	0.37468	1.085000	0.30452	1.520000	0.27085	0.584000	0.30380	0.994000	0.38300	0.010000	0.20010	0.982000	0.59238	0.0:0.0:1.0:0.0	12.579	0.55730	744	0.52588	.;.;Myosin tail;.;.;Myosin tail;Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	2815.27	33	chr19	50276849	.	G	A	2815.27	.	AC=2;AF=0.143;AN=14;DP=271;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.27;SOR=1.44	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	6	1	0	0
chr19	50475491	50475491	T	A	exonic	FAM71E1	.	nonsynonymous SNV	FAM71E1:NM_001308429:exon3:c.A373T:p.I125F	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00783844012096	.	0.00139776	0.0011	0	0.0002	0	0	0.0002	0	0.0082	0.0007115	110	154602	rs539244786	0.0004	0.0004	0.0002	0.0006	0.0049	0.0004	0.0004	0.0045	0.0044	0	7.098e-05	0.0006	0	2.262e-05	0.0016	8.91e-05	0.0005	0.0049	0.0004	0.0004	0.0003	0.0005	0.0071	0.0003	0.0003	0.0052	0.0046	0	0	0	0.0023	0	0	0.0102	0.0002	0	0.0071	.	.	.	0.721	0.05327	T	0.868	0.47740	P	0.307	0.41295	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	.	.	.	.	.	.	0.392	0.43320	-1.0194	0.23910	T	0.023	0.09696	T	8	0.004296869	0.00086	T	0.007838	0.20798	T	.	.	.	.	0.0716867268079	0.06686	0.4420710418473369	0.44124	.	.	.	.	.	0.006899	0.06325	T	-0.386082	0.02851	T	-0.326678	0.41837	T	0.0207825613872288	0.00778	T	0.273673	0.04648	T	0.035191588	0.04095	0.04287846	0.05207	0.035191588	0.04095	0.04287846	0.05206	-2.321	0.04672	T	.	.	0.178	0.38924	B	.	.	0.648498	0.10169	6.911	0.82300614538284766	0.14121	0.09849	0.15511	N	AEFDBI	0.111661	0.22100	N	-0.531914719333123	0.21055	1.114556	-0.708497826873158	0.16749	0.8874957	0.933039327615356	0.27112	0.718356	0.82227	0	0.573888	0.26702	0	0.570548	0.19454	0	0.567892	0.33627	0	.	.	3.75	0.326	0.15150	0.153000	0.16140	-2.270000	0.03971	0.660000	0.55035	0.004000	0.16614	0.000000	0.08366	0.007000	0.07825	0.0:0.2591:0.235:0.5059	2.953	0.05510	735	0.53711	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	316.46	28	chr19	50475491	.	T	A	316.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.525;DP=201;ExcessHet=0;FS=1.279;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.33;ReadPosRankSum=0.53;SOR=0.976	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1148	6	0	1	0
chr19	50480132	50480132	C	A	exonic	EMC10	.	nonsynonymous SNV	EMC10:NM_175063:exon4:c.C319A:p.L107M,EMC10:NM_206538:exon4:c.C319A:p.L107M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0436722896927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.34621	T	0.0	0.92824	D	0.99	0.90584	D	0.839	0.84481	P	0.000001	0.62929	D	0.000000	0.999846	0.49770	D	2.395	0.69210	M	.	.	.	-0.95	0.25332	N	0.512	0.54322	-0.4887	0.69054	T	0.323	0.69151	T	9	0.39067212	0.54868	T	0.043672	0.61105	D	0.169	0.43123	0.654	0.79172	0.29385284311	0.29004	0.4735325124346244	0.47272	0.612769194056	0.55863	0.736290991306	0.72427	T	0.062707	0.31987	T	-0.0677607	0.41683	T	-0.33511	0.40897	T	0.685453236103058	0.40038	D	0.846715	0.52677	T	0.29766884	0.52694	0.14144748	0.33685	0.29766884	0.52694	0.14144748	0.33684	-8.11	0.64753	D	.	.	0.221	0.45273	B	.;.;.	.;.;.	2.635108	0.34279	19.58	0.99386411618951853	0.62113	0.93090	0.57302	D	AEFDGBI	0.254685	0.37395	N	0.21976439529462	0.52159	3.391778	0.0900049911988861	0.44043	2.693863	0.59340465301339	0.21665	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.92	2.84	0.32241	-0.559000	0.06062	0.737000	0.21131	-0.182000	0.10109	0.000000	0.06391	0.960000	0.29291	0.918000	0.45347	0.0:0.891:0.0:0.109	10.378	0.43275	730	0.54327	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	211.27	48	chr19	50480132	.	C	A	211.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.051;DP=218;ExcessHet=0;FS=29.256;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.4;ReadPosRankSum=1.31;SOR=4.975	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1319:.	5	0	1	1
chr19	50548700	50548700	C	T	exonic	LRRC4B	.	nonsynonymous SNV	LRRC4B:NM_001080457:exon2:c.G139A:p.A47T,LRRC4B:NM_001348568:exon2:c.G139A:p.A47T	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0682202126822	.	.	0.0002	0	0	0	0	0.0004	0	0	1.94e-05	3	154602	rs759887922	1.005e-05	1.505e-05	8.508e-06	1.163e-05	0.0004	5.83e-06	4.56e-06	6.568e-05	2.661e-05	0	0	0	0	0	0.0004	8.325e-06	3.449e-05	1.257e-05	1.974e-05	1.97e-05	2.572e-05	1.347e-05	6.546e-05	5.25e-06	2.46e-06	.	.	2.416e-05	0	6.546e-05	0	0	0	0	1.472e-05	0	0	0.143	0.25355	T	0.048	0.48594	D	0.581	0.38837	P	0.115	0.31843	B	.	.	.	.	0.656086	0.30490	N	0	0.06538	N	0.21	0.63911	T	-0.49	0.15578	N	0.361	0.40364	-1.0208	0.23454	T	0.079	0.31375	T	9	0.1216566	0.23066	T	0.06822	0.70390	D	0.081	0.23632	0.305	0.27485	0.658784694789	0.65593	.	.	1.62447642288	0.89127	0.738164424896	0.72702	T	0.004617	0.08389	T	-0.0870133	0.38568	T	-0.362765	0.37733	T	0.519598066806793	0.33351	D	0.753225	0.37546	T	0.06404324	0.13547	0.09562449	0.22686	0.06404324	0.13547	0.09562449	0.22686	-5.041	0.37282	T	.	.	0.080	0.10111	B	.;.;.	.;.;.	4.280281	0.65190	24.8	0.99872978214563113	0.95076	0.45129	0.27470	N	AEFDBI	0.176802	0.30402	N	-0.38745897463761	0.25914	1.410391	-0.30626796725312	0.27896	1.551237	0.998525460561048	0.37129	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.66	3.66	0.41111	2.209000	0.42445	5.518000	0.48815	0.585000	0.30472	0.599000	0.27739	1.000000	0.68203	0.936000	0.47498	0.0:1.0:0.0:0.0	11.047	0.47082	701	0.57775	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003623	0.005747	0.002801	0.006061	0.000000	0.008772	0.003125	0.000000	0.08333	327.27	29	chr19	50548700	.	C	T	327.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.51;DP=205;ExcessHet=0;FS=1.485;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.71;SOR=0.951	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1031	5	0	1	1
chr19	50724569	50724569	G	A	exonic	CLEC11A	.	nonsynonymous SNV	CLEC11A:NM_002975:exon3:c.G494A:p.G165D	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	.	.	0.0007	0	0.0189	0	0	0.0009	0	0	0.0002264	35	154602	rs752036565	0.0003	0.0003	0.0003	0.0003	0.0081	0.0003	0.0003	0.0060	0.0052	0.0012	0.0022	0.0014	0	0	0.0081	0.0002	0.0009	0.0001	0.0007	0.0007	0.0005	0.0008	0.0041	0.0006	0.0005	0.0033	0.0030	0.0003	0	0.0041	0.0017	0	0	0	0.0003	0.0009	0	0.459	0.08762	T	0.7	0.10536	T	0.0	0.02946	B	0.0	0.01387	B	0.337424	0.04167	N	1.446790	1	0.08975	N	0.695	0.17993	N	1.24	0.42888	T	-0.17	0.09627	N	0.098	0.25989	-1.0502	0.14341	T	0.030	0.12804	T	10	0.0052238405	0.00114	T	.	.	.	0.079	0.23065	.	.	0.473222633396	0.46952	0.409477757479579	0.40863	0.498799417979	0.48346	0.762063264847	0.76237	T	0.055193	0.29938	T	-0.603516	0.00139	T	-0.644301	0.09359	T	0.00879235073027028	0.00108	T	0.444656	0.12411	T	0.07983951	0.18262	0.07213673	0.15528	0.07983951	0.18262	0.07213673	0.15528	-4.838	0.35031	T	.	.	0.092	0.44002	B	.;.;.	.;.;.	2.369017	0.30397	18.42	0.95022440354921212	0.26008	0.45993	0.27661	N	ALL	0.109129	0.21686	N	-1.07089144495808	0.07184	0.3329639	-0.976821421889916	0.10307	0.5182752	0.999999999999444	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.503968	0.08637	0	0.372554	0.06265	0	.	.	4.53	-3.57	0.04316	0.361000	0.20003	1.539000	0.27214	-0.106000	0.15538	0.659000	0.28251	0.992000	0.31684	0.811000	0.38219	0.2675:0.2607:0.2059:0.266	0.159	0.00094	900	0.24599	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006276	0.000000	0.008333	0.006061	0.050000	0.008929	0.000000	0.000000	0.08333	467.27	28	chr19	50724569	.	G	A	467.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.77;DP=215;ExcessHet=0;FS=4.076;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=1.21;SOR=0.463	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1125	5	0	1	1
chr19	50907002	50907002	C	T	exonic	KLK4	.	nonsynonymous SNV	KLK4:NM_001302961:exon5:c.G412A:p.V138M,KLK4:NM_004917:exon5:c.G697A:p.V233M	Amelogenesis imperfecta, type IIA1, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	974178	Inborn_genetic_diseases|KLK4-related_disorder	MeSH:D030342,MedGen:C0950123|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.262	0.014883786564	0.0015	.	0.0009	0.0008	8.637e-05	0.0005	0.0003	0.0014	0	6.057e-05	0.0008603	133	154602	rs140350753	0.0018	0.0018	0.0018	0.0017	0.0022	0.0017	0.0017	0.0021	0.0021	0.0003	0.0003	0	0.0004	0.0002	0.0007	0.0022	0.0021	5.797e-05	0.0010	0.0010	0.0012	0.0008	0.0019	0.0009	0.0008	0.0016	0.0015	0.0003	0	6.539e-05	0	0.0012	0	0	0.0019	0.0009	0	0.176	0.22312	T	0.217	0.26145	T	.	.	.	.	.	.	0.124507	0.02755	N	2.055780	1	0.08975	N	.	.	.	-2.45	0.88847	D	0.16	0.05217	N	0.087	0.06454	-0.3747	0.72817	T	0.563	0.84119	D	10	0.06443933	0.08546	T	0.014884	0.35280	T	0.262	0.57482	.	.	0.559006825661	0.55561	0.18900249043649855	0.18818	0.34989876258	0.36836	0.294121563435	0.09528	T	.	.	.	-0.390888	0.02655	T	-0.353275	0.38830	T	0.792617857456207	0.45861	D	0.215178	0.02674	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.38426	B	.	.	-0.991730	0.00783	0.025	0.99187225893150976	0.54877	0.00338	0.01756	N	AEFDBI	0.025220	0.01691	N	-0.892256589626733	0.11025	0.5299057	-1.1172632030744	0.07370	0.3582409	0.00849070116123737	0.11685	0.428477	0.06694	0	0.547309	0.14657	0	0.491513	0.07944	0	0.613276	0.41899	0	.	.	3.63	-2.25	0.06498	-5.091000	0.00179	-13.986000	0.00427	-0.850000	0.02721	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3169:0.3722:0.0:0.3109	3.219	0.06309	799	0.44747	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	786.44	81	chr19	50907002	.	C	T	786.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.18;DP=284;ExcessHet=0;FS=1.819;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=-1.893;SOR=0.604	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1199	6	0	1	0
chr19	51025655	51025655	C	T	exonic	KLK11	.	nonsynonymous SNV	KLK11:NM_144947:exon2:c.G73A:p.A25T	.	414	1104	4	0	0	4	0.00180832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.355	0.0665316227731	.	0.000199681	2.319e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs532923427	2.039e-05	2.121e-05	2.372e-05	1.701e-05	0.0004	1.431e-05	1.237e-05	6.354e-05	2.618e-05	0	7.545e-05	0	0	0	0.0004	1.282e-05	6.817e-05	7.456e-05	1.971e-05	1.969e-05	1.285e-05	2.689e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.547e-05	0	0	0	0	1.471e-05	0	0.0002	.	.	.	0.123	0.35582	T	0.941	0.52883	P	0.515	0.48040	P	.	.	.	.	1	0.81001	D	0	0.06538	N	-2.39	0.88377	D	.	.	.	0.321	0.36148	-0.2083	0.77458	T	0.479	0.80083	T	9	0.14162919	0.26908	T	0.066532	0.69903	D	.	.	0.227	0.15257	0.95838133631	0.95793	0.2884719117580755	0.28760	0.104341344547	0.11803	.	.	.	0.001138	0.00643	T	-0.199121	0.20931	T	-0.264121	0.48413	T	0.27492104778577	0.23957	T	0.49705	0.15447	T	0.064230874	0.13606	0.10046698	0.24021	0.064230874	0.13606	0.10046698	0.24020	-4.081	0.25009	T	.	.	0.077	0.06295	B	.	.	1.788194	0.22733	15.74	0.99826227231318987	0.90852	0.48826	0.28295	N	AEFDBI	0.193818	0.32093	N	0.0516718683346007	0.44219	2.700007	0.00549491207800148	0.39970	2.378037	0.174748289729785	0.17788	0.495158	0.18159	0	0.59043	0.45803	0	0.535252	0.11790	0	0.613276	0.41899	0	.	.	2.67	1.6	0.22686	0.871000	0.27675	1.016000	0.23368	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.7294:0.2706:0.0	7.424	0.26260	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1025.53	36	chr19	51025655	.	C	T	1025.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.629;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-0.052;SOR=0.681	GT:AD:DP:GQ:PL	0/1:28,44:72:99:1036,0,651	6	0	1	0
chr19	51338094	51338094	C	G	exonic	VSIG10L	.	nonsynonymous SNV	VSIG10L:NM_001163922:exon6:c.G1844C:p.R615P	.	417	1082	23	0	0	23	0.0105167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	.	.	0.00299521	0.0083	0.0026	0.0056	0	0.0026	0.0077	0.0135	0.0121	0.0021863	338	154602	rs200590126	0.0062	0.0059	0.0059	0.0064	0.0112	0.0061	0.0060	0.0091	0.0088	0.0009	0.0039	0.0073	2.798e-05	0.0018	0.0112	0.0065	0.0061	0.0096	0.0047	0.0047	0.0050	0.0044	0.0104	0.0044	0.0043	0.0081	0.0073	0.0015	0.0165	0.0050	0.0061	0	0.0011	0.0204	0.0067	0.0076	0.0104	0.022	0.48642	D	0.0	0.92824	D	0.999	0.77913	D	0.995	0.83170	D	0.000262	0.46590	D	0.000000	0.985134	0.40241	D	2.19	0.61577	M	2.41	0.15492	T	-3.75	0.71157	D	0.481	0.51583	-0.9615	0.38897	T	0.124	0.42673	T	10	0.007164091	0.00163	T	.	.	.	0.178	0.44724	.	.	0.117506650769	0.11410	0.9052432194662495	0.90497	.	.	0.612644076347	0.54690	T	0.121906	0.44520	T	-0.32016	0.06885	T	-0.22034	0.52704	T	0.0243673031474889	0.01191	T	0.69643	0.30590	T	0.80447996	0.84193	0.6295817	0.78395	0.80447996	0.84195	0.6295817	0.78396	-9.013	0.67781	D	.	.	0.845	0.79494	P	.	.	4.354890	0.66921	25.0	0.99791497073151891	0.87750	0.89768	0.50448	D	AEFDBI	0.531603	0.55181	D	0.623946875957094	0.74690	6.176048	0.566918533478033	0.72581	5.83268	0.999999940042173	0.74766	0.787689	0.99735	0	0.588066	0.40923	0	0.0	0.00061	3	0.567892	0.33627	0	.	.	5.03	5.03	0.67015	1.243000	0.32370	.	.	0.596000	0.33519	0.758000	0.29220	0.995000	0.32472	0.801000	0.37776	0.0:1.0:0.0:0.0	13.844	0.62956	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005917	0.000000	0.000000	0.012500	0.000000	0.000000	0.000000	0.000000	0.07143	409.53	33	chr19	51338094	.	C	G	409.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.842;DP=229;ExcessHet=0;FS=1.186;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.9;ReadPosRankSum=2.4;SOR=0.438	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1302	6	0	1	0
chr19	51746559	51746559	T	C	exonic	FPR1	.	nonsynonymous SNV	FPR1:NM_002029:exon2:c.A436G:p.I146V,FPR1:NM_001193306:exon3:c.A436G:p.I146V	.	.	.	.	.	.	.	.	.	.	.	3171625	Gingival_disorder|not_specified	MONDO:MONDO:0002021,MedGen:C0017563|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.173	0.0106106838152	.	.	5.767e-05	0	0	0.0008	0	0	0	0	4.53e-05	7	154602	rs756459168	6.841e-06	6.84e-06	6.806e-06	6.875e-06	0.0003	3.46e-06	2.52e-06	0.0001	0.0001	0	0	0	0.0003	0	0	0	0	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	0.0004	2.19e-06	8.2e-07	6.813e-05	2.852e-05	0	0	0	0	0.0004	0	0	0	0	0	0.422	0.09776	T	1.0	0.01155	T	0.053	0.22573	B	0.085	0.29395	B	0.048202	0.23273	N	0.400535	0.994779	0.23445	N	1.475	0.37068	L	-0.84	0.74265	T	0.02	0.06739	N	0.018	0.00252	-0.9529	0.40468	T	0.172	0.51484	T	10	0.16599911	0.31012	T	0.010611	0.27345	T	0.173	0.43840	0.774	0.90002	0.587297536726	0.58404	0.38412873956227883	0.38327	0.273506257707	0.29848	0.317508012056	0.13043	T	0.050815	0.28703	T	-0.412801	0.01904	T	-0.44752	0.27971	T	0.0439304533764529	0.04408	T	0.647135	0.25820	T	0.056459147	0.11112	0.051312342	0.08232	0.056459147	0.11112	0.051312342	0.08232	-3.208	0.12579	T	.	.	0.108	0.22391	B	.;.;.	.;.;.	0.435442	0.08059	4.780	0.61810473001100164	0.06803	0.05502	0.11389	N	AEFBI	0.092246	0.18677	N	-0.82161736313395	0.12758	0.6239719	-0.765901362769023	0.15333	0.8058361	0.901431601168956	0.26101	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.66	2.63	0.30420	0.154000	0.16160	.	.	0.645000	0.52629	0.000000	0.06391	0.001000	0.17328	0.179000	0.21265	0.0:0.2545:0.0:0.7455	4.243	0.10112	970	0.06235	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	171.34	95	chr19	51746559	.	T	C	171.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-4.678;DP=911;ExcessHet=0.3476;FS=166.15;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=-0.185;SOR=8.595	GT:AD:DP:GQ:PL	0/0:195,50:245:62:0,62,4415	5	0	2	0
chr19	52115925	52115925	T	G	exonic	ZNF616	.	nonsynonymous SNV	ZNF616:NM_178523:exon4:c.A1239C:p.E413D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.000579544289688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.44905	T	0.003	0.11197	B	0.012	0.16012	B	.	.	.	.	0.999992	0.08975	N	1.05	0.26816	L	2.22	0.18248	T	.	.	.	0.087	0.06454	-1.0065	0.28004	T	0.081	0.32031	T	8	0.07457626	0.11418	T	5.8E-4	0.00246	T	.	.	0.434	0.48500	0.173771789658	0.16945	0.009556299197537034	0.00918	0.0670236021482	0.07481	0.270970135927	0.06268	T	0.046223	0.27359	T	-0.345522	0.05015	T	-0.734095	0.04145	T	0.0541181106021342	0.06210	T	0.117988	0.00908	T	0.112809435	0.26648	0.109048225	0.26276	0.112809435	0.26648	0.109048225	0.26276	-6.599	0.51045	T	.	.	0.195	0.41557	B	.	.	0.408268	0.07791	4.482	0.98618995861303571	0.43745	0.00006	0.00120	N	AEFDGBHCI	0.064948	0.12640	N	-1.14315971418522	0.05893	0.2698708	-1.26736088421117	0.04879	0.231203	0.00736712901817276	0.11448	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.08	0.012	0.13409	-4.875000	0.00204	.	.	-0.355000	0.05542	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.4834:0.0:0.5166	4.093	0.09454	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1430.44	94	chr19	52115925	.	T	G	1430.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.912;DP=277;ExcessHet=0;FS=2.72;MLEAC=1;MLEAF=0.071;MQ=59.63;MQRankSum=0.121;QD=15.22;ReadPosRankSum=1.21;SOR=0.962	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1151	6	0	1	0
chr19	52321764	52321764	T	A	exonic	ZNF480	.	nonsynonymous SNV	ZNF480:NM_001297624:exon4:c.T385A:p.S129T,ZNF480:NM_001297625:exon4:c.T283A:p.S95T,ZNF480:NM_144684:exon5:c.T514A:p.S172T	.	405	1116	1	0	0	1	0.000447828	.	.	.	2735313	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.069	0.00101856030814	.	0.000199681	0.0001	0	8.666e-05	0	0	0	0	0.0010	0.00011	17	154602	rs184656017	6.774e-05	6.772e-05	3.676e-05	9.905e-05	0.0010	5.671e-05	5.262e-05	0.0008	0.0008	0	0.0001	0	0	0	0.0002	2.698e-06	8.282e-05	0.0010	6.566e-05	6.562e-05	7.709e-05	5.371e-05	0.0010	3.514e-05	2.614e-05	0.0004	0.0003	0	0	0.0002	0.0003	0	0	0	1.47e-05	0	0.0010	0.677	0.07425	T	0.712	0.05488	T	0.992	0.64738	D	0.629	0.51727	P	.	.	.	.	1	0.08975	N	-0.52	0.02557	N	3.37	0.07478	T	-0.94	0.29933	N	0.082	0.12341	-1.0477	0.15045	T	0.009	0.03183	T	9	0.014533132	0.00306	T	0.001019	0.01120	T	0.069	0.20116	.	.	0.183819452728	0.17975	0.05341566685972739	0.05283	0.0539382263776	0.05956	0.23766118288	0.02583	T	0.019403	0.15464	T	-0.688608	0.00043	T	-0.838619	0.01120	T	0.0118679620387494	0.00185	T	0.0249975	0.00166	T	0.03534571	0.04141	0.04591135	0.06281	0.03534571	0.04141	0.04591135	0.06281	-4.34	0.28734	T	.	.	0.070	0.05447	B	.;.;.	.;.;.	0.498166	0.08672	5.444	0.86952444425774911	0.16886	0.01239	0.04373	N	AEFGBI	0.027946	0.02374	N	-1.16998954688367	0.05458	0.2489103	-1.24375511401188	0.05224	0.2484113	0.0029015405633596	0.09788	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.85	-2.14	0.06725	-1.222000	0.03074	.	.	0.360000	0.20082	0.000000	0.06391	0.000000	0.08366	0.414000	0.27095	0.3047:0.2946:0.0:0.4008	1.532	0.02385	988	0.01987	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1149.44	37	chr19	52321764	.	T	A	1149.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.288;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.16;ReadPosRankSum=-2.314;SOR=0.794	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1055	6	0	1	0
chr19	52322538	52322538	A	T	exonic	ZNF480	.	nonsynonymous SNV	ZNF480:NM_001297624:exon4:c.A1159T:p.N387Y,ZNF480:NM_001297625:exon4:c.A1057T:p.N353Y,ZNF480:NM_144684:exon5:c.A1288T:p.N430Y	.	320	1201	1	0	0	1	0.000416146	.	.	.	2735311	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.000946999899536	.	0.000199681	0.0001	0	8.672e-05	0	0	0	0	0.0010	0.0001164	18	154602	rs200977154	6.772e-05	6.772e-05	3.675e-05	9.901e-05	0.0010	5.67e-05	5.26e-05	0.0008	0.0008	0	0.0001	0	0	0	0.0002	2.698e-06	8.279e-05	0.0010	6.565e-05	6.562e-05	7.708e-05	5.37e-05	0.0010	3.514e-05	2.614e-05	0.0004	0.0003	0	0	0.0002	0.0003	0	0	0	1.47e-05	0	0.0010	0.002	0.78490	D	0.001	0.83351	D	0.975	0.58077	D	0.845	0.60432	P	.	.	.	.	1	0.26597	N	1.11	0.28643	L	3.2	0.07236	T	-6.22	0.91564	D	0.183	0.21056	-1.0840	0.06591	T	0.029	0.12453	T	9	0.014708549	0.00309	T	9.47E-4	0.00957	T	0.059	0.16972	.	.	0.128392430309	0.12331	0.06419016553692314	0.06358	0.353015961204	0.37122	0.25988009572	0.04877	T	0.144568	0.48126	T	-0.553661	0.00277	T	-0.646059	0.09232	T	0.196252174140527	0.20206	T	0.0853915	0.00631	T	0.25838166	0.48887	0.31959113	0.57919	0.25838166	0.48887	0.31959113	0.57918	-7.649	0.59816	D	.	.	0.181	0.39288	B	.;.;.	.;.;.	2.622781	0.34091	19.53	0.94351302870625964	0.24701	0.00194	0.01121	N	AEFDGBHCI	0.059725	0.11301	N	-0.979043025438482	0.09052	0.4268344	-1.28441368717734	0.04641	0.2193615	0.0488247633786697	0.14783	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.05	-4.11	0.03662	-2.843000	0.00805	.	.	0.550000	0.28109	0.000000	0.06391	0.000000	0.08366	0.752000	0.35857	0.2426:0.2882:0.326:0.1432	1.368	0.02072	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	469.63	39	chr19	52322538	.	A	T	469.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.138;DP=222;ExcessHet=0;FS=4.454;MLEAC=1;MLEAF=0.071;MQ=59.6;MQRankSum=0;QD=10.92;ReadPosRankSum=0.39;SOR=1.365	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1441	6	0	1	0
chr19	52384821	52384821	-	ATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC	exonic	ZNF880	.	stopgain	ZNF880:NM_001145434:exon4:c.1241_1242insATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC:p.K415Sfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs779596445	0.0025	0.0048	0.0023	0.0026	0.0055	0.0024	0.0024	0.0049	0.0047	0.0026	0.0023	0.0064	0.0055	0.0054	0.0049	0.0021	0.0039	0.0011	0.0043	0.0060	0.0044	0.0042	0.0054	0.0040	0.0039	0.0044	0.0042	0.0032	0.0046	0.0037	0.0089	0.0041	0.0034	0.0118	0.0048	0.0042	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1651.65	35	chr19	52384821	.	G	GATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC	1651.65	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.893;DP=249;ExcessHet=1.1394;FS=53.999;MLEAC=1;MLEAF=0.071;MQ=58.39;MQRankSum=-1.676;QD=12.61;ReadPosRankSum=-1.762;SOR=6.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1317:.	6	0	1	0
chr19	52384826	52384826	-	GTGAAAC	exonic	ZNF880	.	frameshift insertion	ZNF880:NM_001145434:exon4:c.1246_1247insGTGAAAC:p.A416Gfs*5	.	475	1021	5	0	21	26	0.0024426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0012	0	0.0004	0	0.0004	0	0.0003	3.84e-05	1	26028	rs754636078	0.0030	0.0085	0.0028	0.0033	0.0147	0.0030	0.0029	0.0139	0.0135	0.0028	0.0044	0.0043	0.0025	0.0030	0.0039	0.0021	0.0040	0.0147	0.0017	0.0062	0.0019	0.0014	0.0040	0.0014	0.0013	0.0019	0.0016	0.0010	0.0021	0.0013	0.0031	0.0010	0.0009	0	0.0021	0.0030	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	71.7	35	chr19	52384826	.	G	GGTGAAAC	71.7	.	AC=1;AF=0.125;AN=8;BaseQRankSum=0.492;DP=280;ExcessHet=0;FS=5.598;MLEAC=1;MLEAF=0.125;MQ=57.82;MQRankSum=-4.135;QD=2.17;ReadPosRankSum=-2.595;SOR=2.395	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1317:.	3	0	1	3
chr19	52801003	52801003	C	T	exonic	ZNF28	.	nonsynonymous SNV	ZNF28:NM_001369762:exon3:c.G683A:p.G228D,ZNF28:NM_001369763:exon4:c.G833A:p.G278D,ZNF28:NM_001369764:exon4:c.G800A:p.G267D,ZNF28:NM_006969:exon4:c.G842A:p.G281D,ZNF28:NM_001369765:exon5:c.G734A:p.G245D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.000537088295201	0.0005	0.000399361	0.0008	0	0	0	0	0.0009	0	0.0021	0.0006727	104	154602	rs145673349	0.0006	0.0006	0.0005	0.0006	0.0018	0.0005	0.0005	0.0015	0.0014	0.0001	0	3.826e-05	0	0.0003	0.0005	0.0005	0.0005	0.0018	0.0004	0.0004	0.0004	0.0005	0.0017	0.0004	0.0003	0.0008	0.0006	4.818e-05	0	0.0001	0	0.0002	0.0004	0	0.0007	0	0.0017	0.091	0.40319	T	0.197	0.34477	T	0.085	0.24868	B	0.091	0.29943	B	.	.	.	.	1	0.08975	N	0.72	0.18721	N	2.46	0.18083	T	-0.97	0.31576	N	0.084	0.06059	-0.9752	0.36082	T	0.025	0.10643	T	9	0.007866472	0.00179	T	5.37E-4	0.00196	T	0.003	0.00094	.	.	0.0884992946249	0.08302	0.01421655497026517	0.01378	0.0576419736178	0.06386	0.356519758701	0.18878	T	0.019422	0.15476	T	-0.71765	0.00029	T	-0.810895	0.01645	T	0.0107909258104284	0.00153	T	0.258474	0.08382	T	0.03966939	0.05521	0.06329317	0.12517	0.03966939	0.05521	0.06329317	0.12517	-5.564	0.42462	T	.	.	0.248	0.55243	B	.;.;.	.;.;.	-0.356190	0.02382	0.263	0.6872395974402109	0.08747	0.00572	0.02591	N	AEFBCI	0.020703	0.00845	N	-1.39250366065193	0.02708	0.119946	-1.54911949624795	0.01982	0.09053529	0.00295616972720036	0.09827	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.47	-2.94	0.05245	-2.964000	0.00736	.	.	-1.377000	0.01163	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.463:0.2073:0.3297	3.713	0.07958	976	0.04745	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.1429	5805.22	103	chr19	52801003	.	C	T	5805.22	.	AC=2;AF=0.143;AN=14;DP=577;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=33.36;SOR=0.813	GT:AD:DP:GQ:PL	0/0:156,0:156:99:0,120,1800	6	1	0	0
chr19	52950277	52950277	G	C	exonic	ZNF816	.	nonsynonymous SNV	ZNF816:NM_001202456:exon4:c.C1498G:p.H500D,ZNF816:NM_001202457:exon4:c.C1498G:p.H500D,ZNF816:NM_001031665:exon5:c.C1498G:p.H500D	.	399	1105	17	1	0	19	0.008524	.	.	.	705228	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.045	0.00362788389778	0.0012	0.00139776	0.0013	0.0003	0.0022	0	0.0003	0.0017	0.0022	0.0004	0.0012225	189	154602	rs138196750	0.0012	0.0012	0.0012	0.0013	0.0107	0.0012	0.0012	0.0086	0.0078	0.0008	0.0011	0.0032	0	0.0002	0.0107	0.0013	0.0019	0.0003	0.0010	0.0010	0.0010	0.0010	0.0022	0.0009	0.0008	0.0016	0.0014	0.0002	0	0.0022	0.0020	0	0.0002	0.0068	0.0014	0.0005	0.0004	0.002	0.72154	D	0.08	0.41913	T	0.757	0.43436	P	0.646	0.52296	P	.	.	.	.	1	0.81001	D	0.655	0.16177	N	2.25	0.17761	T	-2.98	0.62008	D	0.127	0.12341	-1.0872	0.06013	T	0.028	0.11971	T	9	0.008083284	0.00183	T	0.003628	0.08340	T	0.045	0.12272	.	.	0.177238962908	0.17366	0.10559662276947457	0.10489	0.169767019264	0.19140	0.293520450592	0.09438	T	0.018643	0.14992	T	-0.564599	0.00238	T	-0.597014	0.13063	T	0.065832061411241	0.08053	T	0.90041	0.65400	D	0.238808	0.46763	0.24489272	0.49965	0.238808	0.46763	0.24489272	0.49964	-9.061	0.68089	D	.	.	0.451	0.62251	A	.;.	.;.	1.139371	0.15266	11.72	0.84587570360612363	0.15379	0.24789	0.22502	N	AEFBCI	0.083224	0.16860	N	-0.537344951808491	0.20883	1.10416	-0.717267948479002	0.16531	0.8749261	1.67528249301758E-5	0.02871	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.85	1.85	0.24418	0.507000	0.22383	.	.	-0.213000	0.08312	0.015000	0.19116	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7239:0.276	6.857	0.23230	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008560	0.000000	0.012228	0.008772	0.000000	0.017241	0.006098	0.000000	0.07143	1871.44	68	chr19	52950277	.	G	C	1871.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.283;DP=430;ExcessHet=0;FS=1.329;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=-1.42;SOR=0.872	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1091	6	0	1	0
chr19	52950834	52950834	T	C	exonic	ZNF816	.	nonsynonymous SNV	ZNF816:NM_001202456:exon4:c.A941G:p.K314R,ZNF816:NM_001202457:exon4:c.A941G:p.K314R,ZNF816:NM_001031665:exon5:c.A941G:p.K314R	.	393	1116	12	1	0	14	0.0062333	.	.	.	705229	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.108	0.00506407426225	0.0014	0.00139776	0.0013	0.0008	0.0022	0	0.0003	0.0017	0.0022	0.0004	0.0012354	191	154602	rs140118973	0.0012	0.0012	0.0012	0.0013	0.0106	0.0012	0.0012	0.0085	0.0077	0.0010	0.0012	0.0032	0	0.0002	0.0106	0.0013	0.0019	0.0003	0.0011	0.0011	0.0011	0.0011	0.0023	0.0010	0.0009	0.0017	0.0015	0.0005	0	0.0023	0.0020	0	0.0002	0.0068	0.0014	0.0005	0.0004	0.045	0.40832	D	0.058	0.46182	T	0.875	0.48103	P	0.395	0.44317	B	.	.	.	.	0.999999	0.08975	N	1.39	0.34934	L	0.43	0.56772	T	-2.35	0.51968	N	0.04	0.01347	-1.0543	0.13225	T	0.072	0.29130	T	9	0.008570731	0.00194	T	0.005064	0.12815	T	0.108	0.30607	.	.	0.197625483188	0.19356	0.0036884889547903273	0.00344	0.389022359252	0.40154	0.259615778923	0.04845	T	0.009841	0.08928	T	-0.582137	0.00187	T	-0.627991	0.10568	T	0.020516426303965	0.00751	T	0.00713929	0.00031	T	0.04301568	0.06629	0.06939665	0.14618	0.04301568	0.06629	0.06939665	0.14618	-6.858	0.52989	T	.	.	0.105	0.19073	B	.;.	.;.	1.126345	0.15127	11.61	0.99638591045232228	0.76510	0.02693	0.07333	N	AEFBCI	0.063166	0.12187	N	-0.503816358158297	0.21956	1.169005	-0.615396290478316	0.19098	1.023154	1.47748520181312E-5	0.02871	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.78	1.78	0.23918	-0.082000	0.11268	.	.	-0.337000	0.05733	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.0:0.0:0.2802:0.7198	5.658	0.16928	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008065	0.000000	0.010870	0.005882	0.000000	0.017241	0.009146	0.000000	0.07143	4107.44	54	chr19	52950834	.	T	C	4107.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.668;DP=654;ExcessHet=0;FS=2.784;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.278;SOR=0.566	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1091	6	0	1	0
chr19	53267316	53267316	G	C	exonic	VN1R4	.	nonsynonymous SNV	VN1R4:NM_173857:exon1:c.C350G:p.A117G	.	429	996	97	0	0	97	0.0464337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0745	.	0.0723	0.1661	0.0578	0.1678	0.0343	0.0512	0.0526	0.0748	0.0574507	8882	154602	rs74359534	0.0001	0.0012	0.0001	0.0001	0.0005	0.0001	0.0001	0.0003	0.0002	0.0005	2.243e-05	3.834e-05	0.0003	0.0005	0	8.66e-05	0.0002	0.0002	0.0005	0.0022	0.0004	0.0006	0.0016	0.0004	0.0004	0.0008	0.0007	0.0011	0	0.0002	0.0003	0.0016	0.0002	0	0.0002	0.0005	0.0013	0.022	0.48642	D	0.031	0.53788	D	.	.	.	.	.	.	0.544248	0.05332	N	1.356640	1	0.08975	N	.	.	.	1.22	0.37052	T	-2.67	0.57110	D	0.067	0.03956	-0.9924	0.31985	T	0.002	0.00526	T	10	0.0025487542	0.00039	T	.	.	.	0.048	0.13305	.	.	.	.	0.05313922711391094	0.05255	0.384759530948	0.39774	0.249634504318	0.03729	T	.	.	.	-0.723375	0.00026	T	-0.704733	0.05570	T	0.0342202795027098	0.02675	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12084	B	.	.	1.325632	0.17306	13.08	0.87963315563257027	0.17613	0.00907	0.03546	N	AEFGBI	0.029181	0.02709	N	-0.884326474785515	0.11215	0.5400046	-1.06817902281054	0.08332	0.4092313	4.69142761911595E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.28	-0.254	0.12350	0.747000	0.25956	.	.	-0.917000	0.02218	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.4302:0.3517:0.2182	5.387	0.15525	994	0.00715	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.090131	0.111111	0.103261	0.064327	0.050000	0.077586	0.091463	0.087121	0.1429	33.22	33	chr19	53267316	.	G	C	33.22	.	AC=2;AF=0.143;AN=14;DP=261;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=33;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	6	1	0	0
chr19	53449528	53449528	G	A	exonic	ZNF761;ZNF765-ZNF761	.	nonsynonymous SNV	ZNF761:NM_001289953:exon3:c.G32A:p.R11K,ZNF761:NM_001289951:exon4:c.G32A:p.R11K,ZNF761:NM_001289952:exon4:c.G32A:p.R11K,ZNF761:NM_001008401:exon5:c.G32A:p.R11K,ZNF765-ZNF761:NM_001350496:exon12:c.G32A:p.R11K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	0.21880	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.20129	.	.	.	.	.	.	.	0.10384759	0.19112	T	.	.	.	.	.	.	.	0.251639045875	0.24756	0.057570622064893356	0.05698	.	.	0.384643673897	0.22913	T	0.037191	0.24383	T	-0.0553257	0.43633	T	-0.317248	0.42876	T	.	.	.	0.0226477	0.00250	T	0.038366	0.05099	0.106463574	0.25612	0.038366	0.05098	0.106463574	0.25611	-6.82	0.52708	T	.	.	0.076	0.24599	B	.;.;.;.	.;.;.;.	0.673263	0.10417	7.139	0.90371335229837357	0.19634	0.00866	0.03436	N	AEFBI	.	.	.	.	.	.	.	.	.	1.09274493557264E-5	0.01202	0.322412	0.05557	0	0.30413	0.05452	0	0.331037	0.05861	0	0.221052	0.04502	0	0.117024	0.24315	1.37	-1.41	0.08473	0.491000	0.22128	.	.	0.342000	0.19800	0.062000	0.21832	0.000000	0.08366	0.195000	0.21750	0.4735:0.0:0.251:0.2756	1.778	0.02843	994	0.00715	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	3438.24	33	chr19	53449528	.	G	A	3438.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.88;DP=530;ExcessHet=0.3476;FS=1.262;MLEAC=2;MLEAF=0.143;MQ=47.11;MQRankSum=0.287;QD=9.29;ReadPosRankSum=2.68;SOR=0.625	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1308	5	0	2	0
chr19	53636878	53636878	C	T	exonic	DPRX	.	stopgain	DPRX:NM_001012728:exon3:c.C466T:p.R156X	.	423	1094	5	0	0	5	0.00227998	.	.	YES	590905	Short_stature	Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588	no_assertion_criteria_provided	Pathogenic	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0003	0	0.0004	0	0	0.0005	0.0011	6.057e-05	0.0002911	45	154602	rs201435914	0.0004	0.0004	0.0004	0.0004	0.0028	0.0003	0.0003	0.0017	0.0014	0.0001	0.0008	0.0002	5.038e-05	1.872e-05	0.0028	0.0004	0.0004	0.0002	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0005	0.0004	7.219e-05	0	0.0008	0.0003	0	9.425e-05	0.0034	0.0005	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998469	0.44953	D	.	.	.	.	.	.	.	.	.	0.047	0.01911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0996016	0.64249	D	0.272887	0.86733	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	7.357940	0.96433	36	0.98475909712978482	0.41919	0.09669	0.15373	N	AEFBI	0.045536	0.07460	N	0.166653448481506	0.49603	3.158862	-0.17800010153802	0.32347	1.839409	8.11487153404692E-5	0.04703	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.45	1.45	0.21708	1.136000	0.31079	.	.	0.573000	0.29008	0.675000	0.28393	0.017000	0.20586	0.360000	0.25886	0.0:1.0:0.0:0.0	6.332	0.20479	994	0.00715	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.015152	0.000000	0.000000	0.000000	0.008621	0.003049	0.003788	0.07143	1243.44	40	chr19	53636878	.	C	T	1243.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.125;DP=308;ExcessHet=0;FS=0.717;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-2.07;SOR=0.776	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1234	6	0	1	0
chr19	53810880	53810880	G	A	exonic	NLRP12	.	nonsynonymous SNV	NLRP12:NM_001277126:exon3:c.C779T:p.T260M,NLRP12:NM_001277129:exon3:c.C779T:p.T260M,NLRP12:NM_144687:exon3:c.C779T:p.T260M	Familial cold autoinflammatory syndrome 2, Autosomal dominant	0	1507	14	1	0	16	0.00528053	.	.	.	350326	NLRP12-related_disorder|not_provided|Autoinflammatory_syndrome|Familial_cold_autoinflammatory_syndrome_2	.|MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0012724,MedGen:C2673198,OMIM:611762,Orphanet:247868	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.293	0.0192899946617	0.0002	0.000399361	0.0007	9.653e-05	8.664e-05	0.0001	0	0.0005	0.0011	0.0025	0.0005757	89	154602	rs150280940	0.0004	0.0004	0.0003	0.0005	0.0031	0.0004	0.0004	0.0028	0.0027	0	0.0002	0	2.519e-05	5.623e-05	0.0010	0.0003	0.0005	0.0031	0.0003	0.0003	0.0003	0.0003	0.0017	0.0003	0.0002	0.0008	0.0006	0.0001	0	0.0002	0	0	9.42e-05	0.0068	0.0004	0.0009	0.0017	0.022	0.49117	D	0.105	0.41405	T	0.864	0.47514	P	0.399	0.44455	B	0.426532	0.04679	N	1.495180	1	0.08975	N	1.61	0.41143	L	-1.21	0.78645	T	-1.94	0.47514	N	0.136	0.18239	-0.6453	0.62918	T	0.413	0.76088	T	10	0.018002838	0.00388	T	0.01929	0.41613	T	0.293	0.61272	.	.	0.878304472939	0.87711	0.1772274434793367	0.17641	0.204375611468	0.22864	0.362346231937	0.19727	T	0.165943	0.51199	T	-0.432788	0.01426	T	-0.399684	0.33422	T	0.0184567838818328	0.00562	T	0.770023	0.39993	T	0.059065465	0.11959	0.08298804	0.18983	0.06333167	0.13325	0.10124752	0.24231	-5.212	0.39285	T	.	.	0.075	0.05890	B	.;.;.;.;.	.;.;.;.;.	0.693884	0.10624	7.327	0.96405621043405154	0.29702	0.04176	0.09674	N	AEFBI	0.102014	0.20476	N	-0.398168072505235	0.25534	1.386813	-0.564054897555743	0.20433	1.100859	0.00394253236248269	0.10351	0.623552	0.39893	0	0.573888	0.26702	0	0.667671	0.60360	0	0.613276	0.41899	0	.	.	3.99	1.6	0.22686	-0.763000	0.04846	.	.	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.1183:0.1942:0.6875:0.0	6.011	0.18804	994	0.00715	NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase;.;.;NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase;NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1393.63	96	chr19	53810880	.	G	A	1393.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.22;DP=310;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=-0.554;SOR=0.728	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,100,1619	6	0	1	0
chr19	54221870	54221870	C	A	exonic	LILRB3	.	nonsynonymous SNV	LILRB3:NM_001081450:exon4:c.G616T:p.V206L,LILRB3:NM_001320960:exon4:c.G616T:p.V206L,LILRB3:NM_006864:exon4:c.G616T:p.V206L	.	308	1206	8	0	0	8	0.00330579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00253250607779	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1405632622	0.0020	0.0027	0.0021	0.0019	0.0030	0.0019	0.0019	0.0026	0.0024	0.0003	0.0030	0.0048	0	1.911e-05	0.0024	0.0021	0.0024	0.0015	0.0022	0.0028	0.0021	0.0023	0.0084	0.0020	0.0019	0.0072	0.0067	0.0004	0	0.0084	0.0056	0	0	0	0.0022	0.0047	0.0013	0.456	0.09401	T	0.267	0.23298	T	.	.	.	.	.	.	0.734583	0.09826	N	0.854162	0.999695	0.20667	N	.	.	.	5.81	0.00662	T	-2.47	0.56787	N	0.098	0.08646	-0.9034	0.47628	T	0.005	0.01797	T	10	0.015370727	0.00323	T	0.002533	0.05065	T	0.028	0.06331	0.381	0.39807	0.168933306366	0.16529	0.06945093480949274	0.06883	1.81973249962	0.91917	0.321139514446	0.13594	T	.	.	.	-0.280297	0.10637	T	-0.640403	0.09639	T	0.294017970561981	0.24757	T	0.672833	0.28129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.42170	B	.;.;.	.;.;.	-0.448933	0.02037	0.184	0.80279008877099323	0.13128	0.01867	0.05758	N	AEFI	0.078528	0.15846	N	-0.821767774725446	0.12754	0.6237559	-0.991268897138185	0.09980	0.4998298	1.76737128854528E-6	0.01202	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.87	-0.78	0.10416	-3.348000	0.00557	.	.	0.523000	0.23987	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.207:0.3879:0.4051:0.0	5.884	0.18119	994	0.00715	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	886.44	92	chr19	54221870	.	C	A	886.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.986;DP=290;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=53.14;MQRankSum=1.43;QD=9.64;ReadPosRankSum=1.8;SOR=0.715	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1389	6	0	1	0
chr19	54278958	54278958	C	G	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon5:c.G461C:p.R154P,LILRB2:NM_001278405:exon5:c.G809C:p.R270P,LILRB2:NM_001278406:exon5:c.G809C:p.R270P,LILRB2:NM_001080978:exon6:c.G809C:p.R270P,LILRB2:NM_001278403:exon6:c.G809C:p.R270P,LILRB2:NM_005874:exon6:c.G809C:p.R270P	.	0	1469	47	0	6	53	0.0157454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	.	0.00579073	0.0033	0	0.0005	0.0001	0	1.499e-05	0.0033	0.0234	0.0027943	432	154602	rs141001610	0.0014	0.0014	0.0008	0.0020	0.0218	0.0013	0.0013	0.0209	0.0206	5.974e-05	2.237e-05	0	5.042e-05	0	0.0012	1.799e-05	0.0015	0.0218	0.0007	0.0007	0.0003	0.0011	0.0208	0.0006	0.0005	0.0175	0.0162	4.812e-05	0	6.537e-05	0	0	0	0	1.471e-05	0	0.0208	0.074	0.34621	T	0.114	0.37173	T	.	.	.	.	.	.	0.002460	0.00890	N	3.309270	1	0.08975	N	.	.	.	5.79	0.00674	T	-3.39	0.67941	D	0.177	0.19190	-0.8969	0.48302	T	0.003	0.00864	T	10	0.0043610334	0.00089	T	.	.	.	0.047	0.12962	0.533	0.64148	0.181679512989	0.17746	0.18442671996020282	0.18361	0.0643675075442	0.07174	0.337208449841	0.16020	T	.	.	.	-0.600448	0.00145	T	-0.618358	0.11314	T	0.0224452537515118	0.00959	T	0.407159	0.10452	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.37331	B	.;.;.;.;.	.;.;.;.;.	0.018576	0.04412	1.150	0.9349383754393864	0.23297	0.00496	0.02345	N	AEFDBI	0.147624	0.27134	N	-1.1535646601175	0.05721	0.2615741	-1.25471504496188	0.05062	0.2402868	0.999954743047432	0.48110	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.81	-1.39	0.08526	-2.154000	0.01372	.	.	0.543000	0.25316	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.2971:0.3746:0.0:0.3284	1.702	0.02701	994	0.00715	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002520	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.011364	0.07143	5287.44	78	chr19	54278958	.	C	G	5287.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.341;DP=739;ExcessHet=0;FS=1.404;MLEAC=1;MLEAF=0.071;MQ=59.07;MQRankSum=2.72;QD=18.05;ReadPosRankSum=0.557;SOR=0.606	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:148,0:148:99:.:.:0,120,1800:.	6	0	1	0
chr19	54337012	54337012	G	C	exonic	LILRA4	.	nonsynonymous SNV	LILRA4:NM_012276:exon6:c.C1084G:p.H362D	.	5	1308	208	1	0	210	0.07431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00132864260766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.811e-06	0.0096	2.797e-06	2.825e-06	.	6.6e-07	4.4e-07	.	.	0	0	0	0	7.632e-05	0	0	0	0	2.059e-05	0.0042	1.341e-05	2.813e-05	0.0002	5.47e-06	2.52e-06	.	.	2.591e-05	0	0	0	0.0002	0	0	1.515e-05	0	0	0.438	0.09319	T	0.431	0.13673	T	.	.	.	.	.	.	0.000037	0.00348	N	4.946150	1	0.08975	N	.	.	.	4.17	0.02767	T	-0.71	0.20145	N	0.221	0.24758	-0.9501	0.40955	T	0.006	0.01944	T	10	0.062004	0.07861	T	0.001329	0.01885	T	0.047	0.12962	0.626	0.76141	0.0611884634855	0.05136	0.25968181529115286	0.25882	0.104041796668	0.11770	0.278527855873	0.07288	T	.	.	.	-0.360524	0.04100	T	-0.755644	0.03271	T	0.0725965366041935	0.09010	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11027	B	.	.	-1.576456	0.00252	0.004	0.34773576372039655	0.02146	0.00354	0.01821	N	AEFDBHCI	0.024273	0.01477	N	-2.30271407116855	0.00045	0.001924218	-2.42840930346014	0.00034	0.001487296	0.999812918144341	0.43459	0.428477	0.06694	0	0.187218	0.04217	2	0.315538	0.05692	2	0.613276	0.41899	0	.	.	2.51	-5.02	0.02759	-6.688000	0.00071	.	.	-2.613000	0.00232	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2159:0.4137:0.1634:0.207	2.137	0.03536	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	39.64	231	chr19	54337012	.	G	C	39.64	.	AC=1;AF=0.071;AN=14;BaseQRankSum=5.09;DP=1009;ExcessHet=0;FS=28.503;MLEAC=1;MLEAF=0.071;MQ=58.84;MQRankSum=-14.7;QD=0.1;ReadPosRankSum=-4.194;SOR=5.415	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:67,0:67:99:.:.:0,120,1800:.	6	0	1	0
chr19	54337451	54337451	C	G	exonic	LILRA4	.	nonsynonymous SNV	LILRA4:NM_012276:exon5:c.G901C:p.V301L	.	5	1472	44	1	0	46	0.0153846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0059	0.00579073	0.0073	0.0054	0.0109	0.0017	0.0062	0.0078	0.0102	0.0072	0.0070956	1097	154602	rs55828618	0.0069	0.0069	0.0069	0.0069	0.0110	0.0068	0.0067	0.0094	0.0091	0.0052	0.0102	0.0098	0.0033	0.0042	0.0110	0.0069	0.0070	0.0078	0.0070	0.0070	0.0070	0.0070	0.0095	0.0066	0.0065	0.0083	0.0078	0.0058	0	0.0095	0.0110	0.0035	0.0041	0.0136	0.0076	0.0081	0.0087	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.049233	0.01996	N	2.525700	1	0.08975	N	.	.	.	2.69	0.12268	T	2.14	0.00347	N	0.128	0.12198	-0.9678	0.37652	T	0.007	0.02439	T	10	0.004746586	0.00100	T	.	.	.	0.015	0.02232	.	.	0.0297737177859	0.01360	0.1017683440438472	0.10107	0.0744562594757	0.08353	0.28287139535	0.07896	T	.	.	.	-0.766824	0.00014	T	-0.861293	0.00829	T	0.000877321905358312	0.00008	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.09675	B	.	.	-2.234250	0.00059	0.001	0.49159573139768742	0.04162	0.00073	0.00509	N	AEFBI	0.014917	0.00258	N	-1.9615160619044	0.00255	0.01095738	-1.9304477807845	0.00426	0.01883179	1.40922730603188E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.48864	0.07692	0	0.613276	0.41899	0	.	.	2.51	-1.26	0.08892	-2.418000	0.01111	.	.	-3.628000	0.00070	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.225:0.3668:0.4082	4.786	0.12593	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007996	0.010101	0.009511	0.004098	0.000000	0.008621	0.012422	0.000000	0.07143	998.83	35	chr19	54337451	.	C	G	998.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.06;DP=306;ExcessHet=0;FS=3.123;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=0.036;SOR=0.416	GT:AD:DP:GQ:PL	0/1:40,37:77:99:1009,0,997	6	0	1	0
chr19	54463420	54463420	G	C	exonic	LENG9	.	nonsynonymous SNV	LENG9:NM_001301782:exon1:c.C107G:p.A36G,LENG9:NM_198988:exon1:c.C173G:p.A58G	.	433	1075	12	1	1	15	0.0064695	.	.	.	3280247	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.047	0.461683328005	.	0.000998403	0	0	.	.	.	0	.	0	0.0018442	48	26028	rs538247982	0.0050	0.0040	0.0050	0.0050	0.0106	0.0049	0.0049	0.0077	0.0067	0.0013	0.0042	0.0024	0	0.0005	0.0106	0.0055	0.0043	0.0006	0.0037	0.0037	0.0039	0.0036	0.0061	0.0035	0.0034	0.0056	0.0054	0.0009	0.0548	0.0029	0.0029	0	0.0005	0	0.0061	0.0043	0.0006	.	.	.	0.089	0.40426	T	.	.	.	.	.	.	0.185733	0.16981	U	0.564061	0.989986	0.24229	N	.	.	.	.	.	.	.	.	.	0.128	0.12198	-0.9986	0.30311	T	0.120	0.41929	T	10	0.008697927	0.00197	T	0.461683	0.94524	D	.	.	.	.	0.167679373172	0.16340	0.1811322340724422	0.18032	.	.	0.851212024689	0.89797	D	0.029042	0.20900	T	-0.370331	0.03577	T	-0.303088	0.44399	T	0.267812894860974	0.23653	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.33800	B	.	.	3.541679	0.49744	22.8	0.99355955129707074	0.60779	0.07946	0.13931	N	ALL	0.090040	0.18248	N	-0.022166659393205	0.40853	2.433358	-0.16036681333199	0.33011	1.883923	0.999999995535946	0.74766	0.024636	0.00146	3	0.166054	0.03914	2	0.239995	0.05000	1	0.621717	0.48901	0	.	.	3.26	0.93	0.18581	0.524000	0.22648	.	.	0.547000	0.25779	0.077000	0.22263	1.000000	0.68203	0.265000	0.23644	0.1194:0.0:0.4885:0.3922	4.31	0.10408	982	0.03397	Zinc finger, CCCH-type|Zinc finger, CCCH-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004405	0.000000	0.009259	0.010638	0.000000	0.000000	0.000000	0.000000	0.07143	131.54	9	chr19	54463420	.	G	C	131.54	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.586;DP=112;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.87;ReadPosRankSum=0.526;SOR=0.735	GT:AD:DP:GQ:PL	0/0:25,0:25:72:0,72,1080	6	0	1	0
chr19	54463480	54463480	G	A	exonic	LENG9	.	nonsynonymous SNV	LENG9:NM_001301782:exon1:c.C47T:p.T16M,LENG9:NM_198988:exon1:c.C113T:p.T38M	.	421	1054	44	3	0	50	0.0231696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	0.0071885	0.0667	0	0	0	.	0.125	0.1667	0.0619	0.0018305	283	154602	rs144782338	0.0074	0.0069	0.0072	0.0076	0.0358	0.0072	0.0072	0.0304	0.0284	0.0019	0.0071	0.0287	0.0015	0.0098	0.0358	0.0068	0.0096	0.0142	0.0060	0.0061	0.0058	0.0063	0.0153	0.0057	0.0056	0.0125	0.0115	0.0012	0	0.0105	0.0308	0.0014	0.0067	0.0377	0.0063	0.0081	0.0153	.	.	.	0.054	0.47097	T	.	.	.	.	.	.	0.043755	0.01924	U	3.158330	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.132	0.12770	-1.0515	0.13981	T	0.018	0.07282	T	10	0.0029560328	0.00048	T	.	.	.	.	.	.	.	.	.	0.2530297997198586	0.25216	.	.	0.756334781647	0.75384	T	0.012156	0.10734	T	-0.463156	0.00939	T	-0.423788	0.30643	T	0.0473489084509676	0.05028	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.32780	B	.	.	1.141636	0.15289	11.74	0.99015246300985382	0.50463	0.00856	0.03410	N	ALL	0.042906	0.06716	N	-0.802475667646566	0.13247	0.6512318	-0.979959058866059	0.10236	0.5142262	0.999999999956359	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	2.81	0.368	0.15378	0.092000	0.14905	.	.	-0.249000	0.07183	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1513:0.0:0.5955:0.2532	3.633	0.07681	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.061388	0.040541	0.085987	0.105263	0.000000	0.038462	0.038462	0.014085	0.07143	259.63	17	chr19	54463480	.	G	A	259.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.187;DP=150;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=0.755;SOR=0.399	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,848	6	0	1	0
chr19	54667735	54667735	G	A	exonic	LILRB4	.	nonsynonymous SNV	LILRB4:NM_001278429:exon10:c.G1232A:p.G411E,LILRB4:NM_001278426:exon11:c.G1142A:p.G381E,LILRB4:NM_001278427:exon11:c.G1139A:p.G380E,LILRB4:NM_001278428:exon11:c.G1142A:p.G381E	.	42	1368	112	0	0	112	0.0393258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	.	0.00938498	0.0029	0.0131	0.0016	0.0003	0.0008	0.0027	0	0.0008	0.0018057	47	26028	rs143761941	0.0002	0.0077	0.0002	0.0002	0.0019	0.0002	0.0002	0.0015	0.0014	0.0019	6.756e-05	3.887e-05	0	0.0019	0.0005	7.91e-05	6.767e-05	9.397e-05	0.0011	0.0063	0.0009	0.0013	0.0023	0.0009	0.0009	0.0019	0.0018	0.0023	0	0.0007	0.0006	0	0.0008	0	0.0006	0.0020	0.0006	0.817	0.08534	T	0.485	0.14284	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	7.22	0.00450	T	-1.14	0.33197	N	0.082	0.06587	-1.0309	0.20163	T	0.001	0.00222	T	9	0.0048834085	0.00104	T	.	.	.	0.017	0.02790	.	.	0.0611884634855	0.05136	0.025520150562575675	0.02503	0.0146181732997	0.01385	0.27307882905	0.06546	T	0.024122	0.18284	T	-0.312001	0.07572	T	-0.685945	0.06627	T	0.00416992427023374	0.00044	T	0.40156	0.13085	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.02548	B	.;.;.;.	.;.;.;.	-1.426860	0.00341	0.006	0.34032084928210377	0.02060	0.00201	0.01154	N	AEFBI	0.057374	0.10682	N	-1.73416465629474	0.00727	0.0314143	-1.78646037534142	0.00803	0.03586342	6.83957052779704E-4	0.07622	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.36	-2.07	0.06873	-2.169000	0.01355	.	.	-2.327000	0.00315	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2899:0.0:0.7101:0.0	7.181	0.24951	814	0.42100	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005637	0.025641	0.001370	0.000000	0.000000	0.008621	0.010135	0.012000	0.1429	335.29	52	chr19	54667735	.	G	A	335.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.766;DP=421;ExcessHet=0.3476;FS=0.919;MLEAC=2;MLEAF=0.143;MQ=54.81;MQRankSum=-3.419;QD=2.04;ReadPosRankSum=0.579;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,10:73:99:0|1:54667733_T_C:230,0,2563:54667733	5	0	2	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291696:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291700:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291701:exon2:c.C61A:p.P21T,LOC102725023:NM_001360171:exon2:c.C61A:p.P21T,KIR2DS2:NM_012312:exon2:c.C61A:p.P21T,KIR2DS3:NM_012313:exon2:c.C61A:p.P21T,KIR2DL1:NM_014218:exon2:c.C61A:p.P21T,KIR2DL2:NM_014219:exon2:c.C61A:p.P21T,KIR2DL3:NM_015868:exon2:c.C61A:p.P21T	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.000629482271791	.	.	1.26e-05	0	0	0	0	0	0	0.0002	0.0001153	3	26028	rs143258060	0.0001	0.0014	0.0001	0.0001	0.0003	0.0001	9.739e-05	0.0002	0.0002	0	0.0002	0	7.578e-05	0.0015	0.0002	4.598e-05	8.31e-05	0.0003	0.0003	0.0064	0.0002	0.0005	0.0007	0.0002	0.0002	0.0004	0.0003	9.821e-05	0	0.0007	0	0.0002	0.0010	0	0.0003	0	0.0004	0.0	0.91255	D	0.05	0.48080	T	0.039	0.21116	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.675	0.43121	L	7.25	0.00428	T	-2.83	0.59710	D	0.057	0.02861	-0.7967	0.55338	T	0.003	0.00929	T	9	0.04721421	0.04010	T	6.29E-4	0.00319	T	0.067	0.19503	0.275	0.22687	0.333906830038	0.33007	0.11003837353837338	0.10932	3.22852605899	0.99523	.	.	.	0.024485	0.18493	T	-0.40546	0.02131	T	-0.633654	0.10139	T	0.262085987067051	0.23406	T	.	.	.	0.08533072	0.19789	0.12122417	0.29249	0.08533072	0.19789	0.12122417	0.29248	-6.294	0.48674	T	.	.	0.091	0.13268	B	.	.	-0.337065	0.02459	0.283	0.40733743298301972	0.02894	0.00183	0.01069	N	AEFDGBI	0.020550	0.00823	N	-1.61360564278005	0.01198	0.05208234	-1.880969786367	0.00533	0.02366577	0.225960784001686	0.18410	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.418	-0.836	0.10225	-1.270000	0.02939	.	.	-4.224000	0.00037	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3954:0.2043:0.1975:0.2028	0.314	0.00272	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	5690.48	294	chr19	54739533	.	C	A	5690.48	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.49;DP=1770;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=55.69;MQRankSum=1.86;QD=3.35;ReadPosRankSum=1.3;SOR=0.752	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1213	1	0	6	0
chr19	54752378	54752378	A	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.A885T:p.E295D	.	438	644	313	127	0	567	0.30566	.	.	.	4025410	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.000595427967978	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs76449138	0.0004	0.0045	0.0003	0.0006	0.0014	0.0004	0.0004	0.0012	0.0011	0.0009	0.0007	0.0004	0.0002	0.0006	0	0.0003	0.0006	0.0014	0.0004	0.0045	0.0004	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0004	0.0003	0	0.0003	0	0.0002	0	0.0006	0.017	0.51248	D	0.362	0.16865	T	0.009	0.15093	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	7.17	0.00438	T	-1.3	0.32590	N	0.03	0.00717	-0.9072	0.47191	T	0.003	0.00800	T	9	0.06407854	0.08444	T	5.95E-4	0.00260	T	0.053	0.14996	0.345	0.33950	0.315609569513	0.31162	0.055351736594923893	0.05476	0.156621518827	0.17680	.	.	.	0.006609	0.06037	T	-0.243919	0.14853	T	-0.588149	0.13826	T	0.1719860881567	0.18714	T	.	.	.	0.072928816	0.16260	0.055293426	0.09672	0.072928816	0.16260	0.055293426	0.09672	-5.957	0.45918	T	.	.	0.102	0.17785	B	.	.	0.393611	0.07651	4.319	0.83992659330197972	0.15036	0.00398	0.01994	N	AEFI	0.034546	0.04300	N	-1.14210111889885	0.05910	0.2707387	-1.35039455156555	0.03801	0.1780508	3.36295698448585E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-1.94	0.07158	0.608000	0.23921	.	.	0.538000	0.25075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3959:0.0:0.0:0.6041	4.008	0.09100	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3571	7320.09	202	chr19	54752378	.	A	T	7320.09	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-4.423;DP=1708;ExcessHet=0.4813;FS=0;MLEAC=5;MLEAF=0.357;MQ=55.45;MQRankSum=-20.94;QD=5.89;ReadPosRankSum=1.67;SOR=0.675	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1189	3	1	3	0
chr19	54752434	54752434	G	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G941C:p.R314T	.	440	676	290	116	0	522	0.278549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000504783109797	.	.	9.107e-06	0	0	0	0	1.648e-05	0	0	0	0	26028	rs369659451	0.0001	0.0011	8.786e-05	0.0001	0.0006	0.0001	9.738e-05	0.0005	0.0004	0.0003	0.0001	0	0	0.0002	0.0002	8.061e-05	0.0001	0.0006	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.336	0.18232	T	0.038	0.21002	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	7.21	0.00433	T	-1.76	0.41618	N	0.15	0.15328	-0.9578	0.39589	T	0.001	0.00438	T	9	0.055743694	0.06139	T	5.05E-4	0.00153	T	0.018	0.03083	0.358	0.36060	0.197625483188	0.19356	0.07934385317345088	0.07869	0.381999604534	0.39540	.	.	.	0.008653	0.07927	T	-0.372433	0.03472	T	-0.772751	0.02679	T	0.0711279924993857	0.08808	T	.	.	.	0.058790613	0.11869	0.056505527	0.10109	0.058790613	0.11869	0.056505527	0.10109	-8.83	0.66596	D	.	.	0.103	0.18456	B	.	.	-0.693291	0.01336	0.074	0.50922294396745071	0.04470	0.00271	0.01473	N	AEFI	0.037209	0.05083	N	-1.83575514742651	0.00463	0.01994319	-2.00237195100838	0.00303	0.01337074	0.00114747052574219	0.08272	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-2.12	0.06766	-2.589000	0.00974	.	.	-2.077000	0.00405	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2846:0.2349:0.4805:0.0	4.380	0.10722	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	9562.09	240	chr19	54752434	.	G	C	9562.09	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.957;DP=1961;ExcessHet=0.4813;FS=8.564;MLEAC=5;MLEAF=0.357;MQ=56.48;MQRankSum=-23.55;QD=6.43;ReadPosRankSum=2.55;SOR=1.069	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1189	3	1	3	0
chr19	54752445	54752445	C	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.C952T:p.R318C	.	444	649	317	112	0	541	0.294182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000730226801608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372921221	7.35e-05	0.0008	5.213e-05	9.518e-05	0.0004	6.171e-05	5.67e-05	0.0003	0.0002	0.0004	0.0001	4.416e-05	2.548e-05	0.0001	0	4.228e-05	3.658e-05	0.0004	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.101	0.38596	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.14	0.00441	T	-1.73	0.41046	N	0.081	0.05670	-0.9462	0.41615	T	0.001	0.00318	T	9	0.07376027	0.11187	T	7.3E-4	0.00491	T	0.046	0.12618	.	.	0.190952846119	0.18690	0.08507494458604588	0.08441	0.272347824251	0.29747	.	.	.	0.006919	0.06344	T	-0.301136	0.08553	T	-0.670337	0.07586	T	0.0816786993696317	0.10202	T	.	.	.	0.06286794	0.13178	0.048082765	0.07066	0.06286794	0.13177	0.048082765	0.07066	-8.692	0.65693	D	.	.	0.085	0.10159	B	.	.	0.663279	0.10314	7.048	0.77161828724750081	0.11761	0.00606	0.02697	N	AEFI	0.056180	0.10365	N	-1.90787109037655	0.00331	0.01420744	-2.03030551184277	0.00264	0.01165071	5.65618134037242E-5	0.04171	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-0.238000	0.08995	.	.	-1.505000	0.01024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2329:0.4799:0.2873:0.0	4.091	0.09446	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	11422.1	250	chr19	54752445	.	C	T	11422.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.166;DP=2001;ExcessHet=0.4813;FS=10.314;MLEAC=5;MLEAF=0.357;MQ=56.74;MQRankSum=-23.95;QD=7.48;ReadPosRankSum=0.898;SOR=1.243	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1189:.	3	1	3	0
chr19	54752470	54752470	C	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.C977T:p.P326L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.000532555396834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.437e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.057	0.46406	T	0.847	0.46818	P	0.443	0.45803	B	.	.	.	.	1	0.08975	N	3.15	0.88382	M	7.1	0.00445	T	-5.69	0.87300	D	0.099	0.08088	-0.9763	0.35838	T	0.005	0.01725	T	9	0.21145281	0.37573	T	5.33E-4	0.00185	T	0.042	0.11227	0.488	0.57257	0.399304321381	0.39546	0.08880542142491482	0.08813	0.48504829238	0.47404	.	.	.	0.032024	0.22303	T	-0.289619	0.09675	T	-0.653794	0.08690	T	0.91267067193985	0.56865	D	.	.	.	0.059323456	0.12043	0.1152076	0.27809	0.059323456	0.12043	0.1152076	0.27808	-4.415	0.29759	T	.	.	0.086	0.10835	B	.	.	1.731734	0.22039	15.46	0.97436821187828682	0.33956	0.00980	0.03737	N	AEFI	0.027292	0.02204	N	-0.318334734936963	0.28451	1.569419	-0.654174012092628	0.18111	0.966082	2.73389013816173E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	0.909	0.18460	-0.209000	0.09362	.	.	-0.426000	0.05215	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:1.0:0.0:0.0	5.189	0.14522	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	5850.44	242	chr19	54752470	.	C	T	5850.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.679;DP=1625;ExcessHet=0;FS=1.112;MLEAC=1;MLEAF=0.071;MQ=58.14;MQRankSum=7.63;QD=9.8;ReadPosRankSum=-0.958;SOR=0.717	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1189	6	0	1	0
chr19	54752485	54752485	T	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.T992C:p.I331T	.	458	776	181	107	0	395	0.202876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000598353408358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781524573	5.305e-06	0.0001	4.511e-06	6.112e-06	2.86e-05	2.21e-06	1.42e-06	4.75e-06	1.78e-06	0	0	0	0	5.995e-05	0	1.979e-06	0	2.86e-05	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.744	0.03653	T	0.196	0.27943	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.075	0.27130	L	7.07	0.00449	T	1.38	0.00857	N	0.023	0.00407	-0.9420	0.42298	T	0.001	0.00318	T	9	0.04724872	0.04019	T	5.98E-4	0.00274	T	0.014	0.01968	0.471	0.54537	0.15556083564	0.15200	0.03272981040342714	0.03220	0.11650274929	0.13144	.	.	.	0.002103	0.01509	T	-0.435909	0.01367	T	-0.863929	0.00802	T	0.0462318255409502	0.04826	T	.	.	.	0.029743398	0.02519	0.04760247	0.06891	0.029743398	0.02518	0.04760247	0.06890	-0.729	0.00744	T	.	.	0.056	0.00487	B	.	.	-0.452449	0.02024	0.181	0.28219194255820729	0.01438	0.00196	0.01131	N	AEFI	0.020637	0.00835	N	-1.78857713604755	0.00574	0.02471146	-1.87148925175353	0.00557	0.02469536	2.05976653641204E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-0.268	0.12295	-0.692000	0.05228	.	.	-3.068000	0.00129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3083:0.394:0.2977	3.096	0.05931	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	5775.09	228	chr19	54752485	.	T	C	5775.09	.	AC=5;AF=0.357;AN=14;BaseQRankSum=7.34;DP=1552;ExcessHet=0.4813;FS=32.255;MLEAC=5;MLEAF=0.357;MQ=57.04;MQRankSum=-23.15;QD=4.11;ReadPosRankSum=-3.734;SOR=2.962	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1189:.	3	1	3	0
chr19	54752511	54752511	G	A	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G1018A:p.E340K	.	471	887	74	90	0	254	0.125247	.	.	.	2330855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00058277682123	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878939548	6.015e-06	0.0002	4.476e-06	7.577e-06	2.785e-05	2.59e-06	1.87e-06	4.62e-06	1.73e-06	0	0	0	0	3.975e-05	0	3.938e-06	0	2.785e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.169	0.22920	T	0.141	0.33442	T	0.014	0.16867	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.56	0.39490	L	7.23	0.00430	T	-1.59	0.38345	N	0.036	0.01068	-0.9636	0.38488	T	0.002	0.00707	T	9	0.048668027	0.04349	T	5.83E-4	0.00246	T	0.023	0.04649	0.359	0.36222	0.201204373187	0.19734	0.14158577538071196	0.14081	0.485544564949	0.47430	.	.	.	0.006937	0.06364	T	-0.364647	0.03874	T	-0.761566	0.03056	T	0.472253292798996	0.31613	T	.	.	.	0.035863034	0.04304	0.048440736	0.07194	0.035863034	0.04303	0.048440736	0.07193	-4.19	0.26607	T	.	.	0.087	0.11317	B	.	.	-0.236831	0.02908	0.420	0.60687808817287325	0.06524	0.00049	0.00384	N	AEFI	0.023028	0.01229	N	-1.55887154151576	0.01484	0.06475221	-1.76960007506711	0.00862	0.03850489	6.95773214814763E-5	0.04366	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-1.609000	0.02169	.	.	-1.067000	0.01603	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5547:0.0:0.4453:0.0	6.337	0.20509	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	2354.11	198	chr19	54752511	.	G	A	2354.11	.	AC=4;AF=0.286;AN=14;BaseQRankSum=5.29;DP=917;ExcessHet=0.0921;FS=50.49;MLEAC=4;MLEAF=0.286;MQ=57.33;MQRankSum=-13.01;QD=3.34;ReadPosRankSum=-1.291;SOR=4.606	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1189:.	4	1	2	0
chr19	54758755	54758755	C	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	452	1059	10	1	0	12	0.0056338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00159744	.	.	.	.	.	.	.	.	0.000511	79	154602	rs531972961	0.0095	0.0090	0.0096	0.0094	0.0111	0.0094	0.0093	0.0110	0.0109	0.0017	0.0021	0.0065	0	0.0088	0.0026	0.0111	0.0081	0.0033	0.0066	0.0063	0.0070	0.0062	0.0107	0.0062	0.0061	0.0100	0.0098	0.0020	0.0013	0.0025	0.0050	0	0.0096	0	0.0107	0.0072	0.0038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	208.44	199	chr19	54758755	.	C	A	208.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.653;DP=1129;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.53;MQRankSum=1.13;QD=6.32;ReadPosRankSum=0.581;SOR=0.61	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	6	0	1	0
chr19	54760643	54760643	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	697	407	0	0	407	0.225986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259531898	0.0011	0.0091	0.0010	0.0012	0.0039	0.0011	0.0010	0.0035	0.0034	0.0015	0.0031	0.0054	0.0008	0.0008	0.0022	0.0007	0.0013	0.0039	0.0012	0.0099	0.0011	0.0014	0.0034	0.0011	0.0010	0.0020	0.0016	0.0020	0	0.0023	0.0020	0.0008	0.0010	0.0036	0.0005	0.0010	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	3983.16	247	chr19	54760643	.	A	G	3983.16	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.095;DP=1331;ExcessHet=2.5225;FS=2.698;MLEAC=4;MLEAF=0.286;MQ=53.69;MQRankSum=-6.991;QD=3.24;ReadPosRankSum=-0.249;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1277:.	3	0	4	0
chr19	54760651	54760651	G	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	415	680	427	0	0	427	0.238948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341664073	1.26e-05	0.0001	6.969e-06	1.828e-05	0.0002	7.87e-06	6.5e-06	7.234e-05	5.562e-05	0.0002	2.285e-05	0	0	0	0	9.212e-07	0	0.0001	2.732e-05	0.0006	1.334e-05	4.198e-05	0.0001	8.38e-06	5.3e-06	3.332e-05	1.97e-05	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	4778.14	244	chr19	54760651	.	G	C	4778.14	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-3.015;DP=1348;ExcessHet=2.5225;FS=2.542;MLEAC=4;MLEAF=0.286;MQ=54.16;MQRankSum=-7.126;QD=3.82;ReadPosRankSum=-0.028;SOR=0.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1277:.	3	0	4	0
chr19	54760659	54760659	G	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	417	909	196	0	0	196	0.0973188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs57865271	1.259e-05	2.057e-05	1.532e-05	9.832e-06	3.033e-05	7.87e-06	6.49e-06	3.9e-06	2.82e-06	3.033e-05	2.283e-05	0	0	0	0	8.284e-06	0.0001	1.176e-05	4.775e-05	8.644e-05	3.992e-05	5.599e-05	0.0003	2.182e-05	1.574e-05	9.529e-05	5.69e-05	2.488e-05	0	0.0003	0	0	0	0	3.045e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1099.24	242	chr19	54760659	.	G	A	1099.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.327;DP=1318;ExcessHet=0.3476;FS=0.55;MLEAC=2;MLEAF=0.143;MQ=52.82;MQRankSum=-4.982;QD=3.26;ReadPosRankSum=1.83;SOR=0.621	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1277:.	5	0	2	0
chr19	54760665	54760665	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	625	479	0	0	479	0.277039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162810689	1.118e-05	5.691e-05	8.35e-06	1.404e-05	0.0002	6.62e-06	5.36e-06	0.0001	8.77e-05	0	2.281e-05	0	0	0	0	0	0	0.0002	0	7.312e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	5513.14	244	chr19	54760665	.	T	C	5513.14	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-3.812;DP=1350;ExcessHet=2.5225;FS=0.726;MLEAC=4;MLEAF=0.286;MQ=54.82;MQRankSum=-7.67;QD=4.38;ReadPosRankSum=1.99;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1277:.	3	0	4	0
chr19	54760676	54760676	T	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	427	600	495	0	0	495	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252325157	1.398e-05	8.023e-05	9.746e-06	1.826e-05	0.0002	9.13e-06	7.42e-06	0.0001	0.0001	0	2.283e-05	0	0	0	0	0	1.692e-05	0.0002	0	7.986e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	5599.14	246	chr19	54760676	.	T	A	5599.14	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-4.497;DP=1318;ExcessHet=2.5225;FS=0.718;MLEAC=4;MLEAF=0.286;MQ=55.59;MQRankSum=-8.13;QD=4.56;ReadPosRankSum=2.2;SOR=0.543	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1277:.	3	0	4	0
chr19	54760692	54760692	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	419	580	521	2	0	525	0.311573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411892976	4.767e-05	0.0002	3.349e-05	6.197e-05	0.0006	3.82e-05	3.496e-05	0.0004	0.0004	0	2.29e-05	0	0	0	0.0002	1.384e-05	6.786e-05	0.0006	0	9.992e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	5802.16	226	chr19	54760692	.	A	G	5802.16	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-4.104;DP=1265;ExcessHet=2.5225;FS=1.486;MLEAC=4;MLEAF=0.286;MQ=56.08;MQRankSum=-8.859;QD=4.93;ReadPosRankSum=2.95;SOR=0.538	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1277:.	3	0	4	0
chr19	54760695	54760695	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	420	579	521	2	0	525	0.311943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406047822	3.998e-05	0.0001	2.094e-05	5.918e-05	0.0006	3.124e-05	2.853e-05	0.0005	0.0004	0	2.291e-05	0	0	0	0	0	5.092e-05	0.0006	0	9.996e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	5832.16	226	chr19	54760695	.	T	C	5832.16	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-3.886;DP=1269;ExcessHet=2.5225;FS=1.497;MLEAC=4;MLEAF=0.286;MQ=56.09;MQRankSum=-8.859;QD=5;ReadPosRankSum=2.92;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1277:.	3	0	4	0
chr19	54767313	54767313	G	C	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.G992C:p.R331T	.	436	1047	27	12	0	51	0.0237762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs4020182	1.906e-05	2.713e-05	2.388e-05	1.419e-05	4.618e-05	1.305e-05	1.119e-05	1.508e-05	1.267e-05	0	4.618e-05	0	0	1.907e-05	0	2.23e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	275.24	258	chr19	54767313	.	G	C	275.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.202;DP=1608;ExcessHet=0.3476;FS=7.148;MLEAC=2;MLEAF=0.143;MQ=57.61;MQRankSum=-4.389;QD=1.92;ReadPosRankSum=-0.101;SOR=1.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1319:.	5	0	2	0
chr19	54767314	54767314	A	C	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.A993C:p.R331S	.	437	1046	27	12	0	51	0.0237984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs4020183	9.31e-05	0.0054	7.637e-05	0.0001	0.0003	7.988e-05	7.514e-05	0.0002	0.0001	0.0003	0.0003	0.0002	0.0001	0.0001	0.0002	7.38e-05	5.179e-05	0.0001	0.0002	0.0045	0.0002	0.0003	0.0005	0.0002	0.0002	0.0001	9.824e-05	0.0002	0	0.0003	0	0.0002	0	0.0039	0.0002	0.0016	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	317.24	258	chr19	54767314	.	A	C	317.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.673;DP=1609;ExcessHet=0.3476;FS=5.091;MLEAC=2;MLEAF=0.143;MQ=57.58;MQRankSum=-4.389;QD=2.2;ReadPosRankSum=-0.05;SOR=1.348	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1319:.	5	0	2	0
chr19	54767315	54767315	G	A	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.G994A:p.V332M	.	436	1047	27	12	0	51	0.0237762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1339510286	2.758e-05	0.0016	1.97e-05	3.554e-05	0.0001	2.065e-05	1.813e-05	4.488e-05	2.953e-05	6.119e-05	0.0001	8.191e-05	5.081e-05	1.91e-05	0	1.767e-05	3.428e-05	7.226e-05	0.0001	0.0020	6.973e-05	0.0002	0.0005	7.182e-05	5.784e-05	0.0001	6.24e-05	2.598e-05	0	0.0003	0	0.0002	0	0	0.0001	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	356.24	258	chr19	54767315	.	G	A	356.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.456;DP=1611;ExcessHet=0.3476;FS=3.425;MLEAC=2;MLEAF=0.143;MQ=57.51;MQRankSum=-4.389;QD=2.44;ReadPosRankSum=-0.265;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1319:.	5	0	2	0
chr19	54767322	54767322	C	T	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.C1001T:p.T334M	.	436	1034	40	12	0	64	0.0300188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274559595	3.256e-05	0.0020	3.239e-05	3.273e-05	0.0002	2.496e-05	2.232e-05	7.519e-05	5.313e-05	0.0001	0.0002	8.218e-05	0.0001	1.911e-05	0	1.768e-05	3.432e-05	8.472e-05	0.0001	0.0028	8.339e-05	0.0002	0.0004	9.419e-05	7.868e-05	0.0001	9.679e-05	2.591e-05	0	0.0004	0	0.0002	0	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	401.24	258	chr19	54767322	.	C	T	401.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.506;DP=1612;ExcessHet=0.3476;FS=4.824;MLEAC=2;MLEAF=0.143;MQ=57.34;MQRankSum=-4.154;QD=2.75;ReadPosRankSum=-0.056;SOR=1.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1319:.	5	0	2	0
chr19	54767339	54767339	G	A	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.G1018A:p.E340K	.	437	984	91	10	0	111	0.0533911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1372790026	1.835e-05	2.225e-05	2.247e-05	1.418e-05	2.535e-05	1.277e-05	1.085e-05	1.422e-05	1.188e-05	0	0	0	2.535e-05	1.906e-05	0	2.136e-05	1.709e-05	0	6.928e-06	6.727e-06	1.348e-05	0	1.538e-05	0	0	.	.	0	0	0	0	0	0	0	1.538e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	398.24	258	chr19	54767339	.	G	A	398.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.336;DP=1613;ExcessHet=0.3476;FS=0.912;MLEAC=2;MLEAF=0.143;MQ=57.34;MQRankSum=-4.519;QD=2.71;ReadPosRankSum=0.849;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1319:.	5	0	2	0
chr19	54767342	54767342	T	C	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.T1021C:p.S341P	.	439	981	92	10	0	112	0.0540019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1213695475	0.0003	0.0051	0.0002	0.0003	0.0011	0.0002	0.0002	0.0009	0.0008	0.0004	0.0011	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0005	0.0067	0.0006	0.0004	0.0011	0.0004	0.0004	0.0009	0.0008	0.0011	0.0012	0.0004	0.0003	0	0	0.0037	0.0002	0.0016	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	392.24	258	chr19	54767342	.	T	C	392.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.685;DP=1614;ExcessHet=0.3476;FS=0.911;MLEAC=2;MLEAF=0.143;MQ=57.36;MQRankSum=-4.736;QD=2.63;ReadPosRankSum=1.02;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1319:.	5	0	2	0
chr19	54767349	54767349	C	-	exonic	KIR2DL1;LOC112267881	.	frameshift deletion	KIR2DL1:NM_014218:exon8:c.1028delC:p.S343fs	.	439	964	109	10	0	129	0.0627127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.062e-07	3.477e-06	1.406e-06	0	2.535e-05	0	0	.	.	0	0	0	2.535e-05	0	0	0	0	0	0	6.726e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	350.2	258	chr19	54767348	.	TC	T	350.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.144;DP=1613;ExcessHet=0.3476;FS=0.943;MLEAC=2;MLEAF=0.143;MQ=57.51;MQRankSum=-4.736;QD=2.37;ReadPosRankSum=1.45;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1319:.	5	0	2	0
chr19	54767352	54767354	AAG	-	exonic	KIR2DL1;LOC112267881	.	nonframeshift deletion	KIR2DL1:NM_014218:exon8:c.1031_1033del:p.344_345del	.	437	959	116	10	0	136	0.0662123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.118e-06	3.477e-06	2.811e-06	1.419e-06	2.535e-05	5.6e-07	1.6e-07	.	.	0	0	0	2.535e-05	0	0	0	1.709e-05	1.198e-05	0	6.715e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	368.2	258	chr19	54767351	.	AAAG	A	368.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.198;DP=1618;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=57.4;MQRankSum=-4.943;QD=2.45;ReadPosRankSum=1.69;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1319:.	5	0	2	0
chr19	54767353	54767353	A	0	exonic	KIR2DL1;LOC112267881	.	.	.	.	444	526	404	111	37	663	0.373063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	20255.9	293	chr19	54767353	.	A	*	20255.9	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-4.438;DP=1947;ExcessHet=1.4958;FS=0;MLEAC=2;MLEAF=0.143;MQ=58.6;MQRankSum=-0.648;QD=11.89;ReadPosRankSum=0.346;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1319:.	5	0	2	0
chr19	54773464	54773464	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.G202C:p.D68H,KIR2DL1:NM_014218:exon3:c.G202C:p.D68H,KIR2DS1:NM_014512:exon3:c.G202C:p.D68H,KIR2DS5:NM_014513:exon3:c.G202C:p.D68H	.	425	856	241	0	0	241	0.1234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.000804883088689	.	.	.	.	.	.	.	.	.	.	.	.	.	rs745536485	6.26e-06	0.0002	5.539e-06	6.987e-06	2.264e-05	2.95e-06	2.13e-06	3.15e-06	2.28e-06	0	2.264e-05	0	0	0	0	7.325e-06	0	0	0.0001	0.0024	0.0001	0.0001	0.0004	7.39e-05	6.091e-05	8.225e-05	5.802e-05	0.0002	0	0.0002	0	0	0	0	7.634e-05	0	0.0004	0.064	0.38407	T	0.247	0.23914	T	0.444	0.35956	B	0.198	0.36766	B	.	.	.	.	1	0.08975	N	.	.	.	2.03	0.20959	T	-2.52	0.54702	D	0.188	0.25130	-1.0056	0.28277	T	0.041	0.17657	T	9	0.1068652	0.19824	T	8.05E-4	0.00629	T	0.038	0.09825	0.276	0.22845	0.283761946502	0.27984	0.08192545392014942	0.08127	0.476618817085	0.46789	0.428809553385	0.29046	T	0.010046	0.09105	T	-0.210968	0.19242	T	-0.540818	0.18217	T	0.0742162314790902	0.09230	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.29833	B	.;.	.;.	0.494158	0.08635	5.403	0.86631705629094091	0.16667	0.00709	0.03002	N	AEFDBI	0.050506	0.08834	N	-0.947669841844548	0.09745	0.4625647	-1.15399594513377	0.06696	0.3231991	1.94292267281438E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	-1.93	0.07180	-0.459000	0.06805	.	.	-0.401000	0.05297	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2328:0.3114:0.4559:0.0	2.604	0.04579	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	3166.72	462	chr19	54773464	.	G	C	3166.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.64;DP=2411;ExcessHet=1.1394;FS=6.511;MLEAC=3;MLEAF=0.214;MQ=57.6;MQRankSum=-8.104;QD=3.43;ReadPosRankSum=-1.185;SOR=1.392	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1129:.	4	0	3	0
chr19	54773510	54773510	C	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.C248G:p.A83G,KIR2DL1:NM_014218:exon3:c.C248G:p.A83G,KIR2DS1:NM_014512:exon3:c.C248G:p.A83G,KIR2DS5:NM_014513:exon3:c.C248G:p.A83G	.	428	768	326	0	0	326	0.175081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00119558056772	.	.	.	.	.	.	.	.	.	.	.	.	.	rs530076007	0.0001	0.0040	0.0002	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0.0002	0	2.556e-05	1.91e-05	0	0.0002	0.0001	0.0001	4.77e-05	0.0026	2.662e-05	6.981e-05	0.0002	2.18e-05	1.572e-05	1.992e-05	1.052e-05	7.514e-05	0	0	0	0.0002	0	0	4.565e-05	0	0	0.053	0.40832	T	0.104	0.38160	T	0.1	0.25713	B	0.33	0.42079	B	.	.	.	.	1	0.08975	N	.	.	.	2.06	0.20523	T	-2.38	0.52451	N	0.208	0.23758	-0.8637	0.50995	T	0.092	0.35119	T	9	0.13614216	0.25903	T	0.001196	0.01533	T	0.067	0.19503	0.605	0.73706	0.405150804464	0.40131	0.04592118071307132	0.04536	0.346524564405	0.36559	0.357214689255	0.18980	T	0.045691	0.27199	T	-0.175925	0.24344	T	-0.490481	0.23340	T	0.2225591391325	0.21591	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.32922	B	.;.	.;.	1.122996	0.15092	11.58	0.93936832440862883	0.23989	0.00979	0.03733	N	AEFDBI	0.047211	0.07926	N	-0.935946201820849	0.10011	0.4763772	-1.14448522620441	0.06868	0.3320446	1.159795150757E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	0.116	0.13953	0.259000	0.18174	.	.	-0.444000	0.05162	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.7435:0.0:0.2565	3.815	0.08327	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	5555.72	453	chr19	54773510	.	C	G	5555.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.685;DP=2656;ExcessHet=1.1394;FS=3.317;MLEAC=3;MLEAF=0.214;MQ=57.62;MQRankSum=-11.98;QD=5.22;ReadPosRankSum=2.14;SOR=1.009	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1129	4	0	3	0
chr19	54775428	54775428	T	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.T634C:p.S212P,KIR2DL1:NM_014218:exon4:c.T634C:p.S212P,KIR2DS1:NM_014512:exon4:c.T634C:p.S212P,KIR2DS5:NM_014513:exon4:c.T634C:p.S212P	.	426	994	102	0	0	102	0.0488038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00119730649929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219946054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.693	0.04643	T	1.0	0.01155	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.92	0.00621	T	4.32	0.00042	N	0.054	0.03841	-0.9543	0.40221	T	0.001	0.00318	T	9	0.048239112	0.04248	T	0.001197	0.01558	T	0.041	0.10877	0.381	0.39807	0.124217242631	0.12060	0.09862332896415132	0.09793	3.5385108973	0.99787	0.337671220303	0.16090	T	0.020959	0.16408	T	-0.296781	0.08966	T	-0.664082	0.07993	T	0.037209109262974	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00234	B	.;.	.;.	-0.377649	0.02298	0.242	0.20061086774987852	0.00705	0.00014	0.00181	N	AEFBI	0.017768	0.00489	N	-2.16889315936069	0.00090	0.003848594	-2.13850442775353	0.00153	0.006750525	1.85327816143771E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.0517	0.13155	0.152000	0.16120	.	.	-2.805000	0.00184	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7488:0.0:0.2512	5.420	0.15691	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	51.44	288	chr19	54775428	.	T	C	51.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.89;DP=1760;ExcessHet=0;FS=6.071;MLEAC=1;MLEAF=0.071;MQ=57.11;MQRankSum=-1.985;QD=0.07;ReadPosRankSum=0.722;SOR=1.119	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1432:.	6	0	1	0
chr19	54778623	54778623	A	C	exonic	KIR2DL1;KIR2DL2;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon5:c.A676C:p.N226H,KIR2DL1:NM_014218:exon5:c.A676C:p.N226H,KIR2DL2:NM_014219:exon5:c.A676C:p.N226H	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00151694013669	.	.	.	.	.	.	.	.	.	.	1.94e-05	3	154602	rs878909395	0.0002	0.0007	0.0001	0.0004	0.0041	0.0002	0.0002	0.0037	0.0036	6.174e-05	0	0	0	0	0.0004	2.774e-06	0.0002	0.0041	0.0005	0.0007	0.0003	0.0007	0.0163	0.0004	0.0004	0.0133	0.0122	0	0	0	0	0	0	0	1.521e-05	0	0.0163	0.032	0.46129	D	0.068	0.44106	T	0.003	0.11197	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	7.2	0.00437	T	-1.71	0.40660	N	0.135	0.14480	-0.9464	0.41582	T	0.002	0.00497	T	8	0.007816225	0.00177	T	0.001517	0.02369	T	0.086	0.25016	0.202	0.11659	0.210429274316	0.20668	0.05328788543094235	0.05270	2.46387727901	0.97434	0.387758374214	0.23353	T	0.02304	0.17656	T	-0.241123	0.15206	T	-0.584133	0.14177	T	0.165323646165335	0.18256	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.08609	B	.;.	.;.	0.676890	0.10455	7.172	0.90949609105773266	0.20198	0.00298	0.01590	N	AEFBI	0.037202	0.05080	N	-1.25996812375637	0.04169	0.1876777	-1.47659125624119	0.02537	0.1168652	4.3534079721304E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.569	-0.824	0.10266	1.149000	0.31238	.	.	-0.361000	0.05505	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1202.44	177	chr19	54778623	.	A	C	1202.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.245;DP=1168;ExcessHet=0;FS=1.794;MLEAC=1;MLEAF=0.071;MQ=52.41;MQRankSum=-8.94;QD=2.37;ReadPosRankSum=1.75;SOR=0.956	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1477:.	6	0	1	0
chr19	54778635	54778635	T	G	exonic	KIR2DL1;KIR2DL2;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon5:c.T688G:p.S230A,KIR2DL1:NM_014218:exon5:c.T688G:p.S230A,KIR2DL2:NM_014219:exon5:c.T688G:p.S230A	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00119571320954	.	.	.	.	.	.	.	.	.	.	.	.	.	rs556830915	0.0003	0.0007	0.0001	0.0004	0.0042	0.0002	0.0002	0.0039	0.0037	3.087e-05	0	0	0	0	0.0004	9.246e-07	0.0002	0.0042	0.0005	0.0007	0.0003	0.0007	0.0167	0.0004	0.0004	0.0137	0.0126	0	0	0	0	0	0	0	1.521e-05	0	0.0167	0.0	0.91255	D	0.222	0.25748	T	0.937	0.52445	P	0.695	0.53983	P	.	.	.	.	1	0.08975	N	.	.	.	7.15	0.00440	T	-1.21	0.35597	N	0.126	0.13769	-0.9477	0.41364	T	0.003	0.00864	T	8	0.013478994	0.00286	T	0.001196	0.01533	T	0.030	0.07022	0.301	0.26843	0.393927044628	0.39002	0.03714688347856771	0.03661	1.75585914569	0.91042	0.386773377657	0.23213	T	0.022783	0.17502	T	-0.217446	0.18342	T	-0.550122	0.17315	T	0.18637554833915	0.19628	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13127	B	.;.	.;.	1.705097	0.21718	15.32	0.90821795015436779	0.20070	0.00184	0.01074	N	AEFBI	0.037914	0.05286	N	-0.64319559175856	0.17659	0.9105616	-0.965880461190126	0.10557	0.5324558	2.02422257672135E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.569	-0.842	0.10204	-0.430000	0.07043	.	.	0.421000	0.20799	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1166.44	177	chr19	54778635	.	T	G	1166.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.3;DP=1183;ExcessHet=0;FS=1.82;MLEAC=1;MLEAF=0.071;MQ=52.7;MQRankSum=-9.225;QD=2.22;ReadPosRankSum=0.665;SOR=1.045	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1477:.	6	0	1	0
chr19	54804844	54804844	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A128G:p.Q43R,KIR2DL4:NM_001080772:exon3:c.A128G:p.Q43R	.	401	1030	89	2	0	93	0.0431955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00113660302036	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs867586202	1.369e-06	2.737e-06	0	2.752e-06	2.995e-05	2.3e-07	9e-08	.	.	2.995e-05	0	0	0	0	0	0	0	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.23997	T	0.596	0.08052	T	0.005	0.12996	B	0.004	0.14941	B	0.135009	0.02839	U	2.391850	1	0.08975	N	0.575	0.15311	N	2.65	0.12676	T	-1.42	0.38540	N	0.098	0.10769	-1.0000	0.29917	T	0.021	0.08778	T	10	0.07379338	0.11196	T	0.001137	0.01410	T	0.004	0.00165	.	.	0.117191471859	0.11215	0.2764269249833639	0.27555	1.63837144597	0.89330	.	.	.	.	.	.	-0.375957	0.03303	T	-0.777812	0.02520	T	0.0943192406486319	0.11720	T	.	.	.	.	.	.	.	.	.	.	.	-6.927	0.54645	T	.	.	0.067	0.04002	B	.;.;.;.	.;.;.;.	-1.101816	0.00638	0.017	0.44240031913180755	0.03387	0.00284	0.01530	N	AEFDBI	0.054807	0.09996	N	-1.5917883983119	0.01306	0.05686907	-1.68956066485271	0.01184	0.05329264	2.77527207762171E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.14	-1.57	0.08055	-2.911000	0.00765	.	.	-4.062000	0.00044	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.404:0.3002:0.0:0.2958	2.076	0.03404	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	213.29	34	chr19	54804844	.	A	G	213.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.09;DP=565;ExcessHet=0.3476;FS=1.05;MLEAC=2;MLEAF=0.143;MQ=58.81;MQRankSum=-5.425;QD=0.51;ReadPosRankSum=0.433;SOR=1.036	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1368:.	5	0	2	0
chr19	54804865	54804865	G	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G149T:p.R50L,KIR2DL4:NM_001080772:exon3:c.G149T:p.R50L	.	399	1022	98	3	0	104	0.0484171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0010606096064	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs377230503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.578e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.129	0.26852	T	0.099	0.43344	T	0.001	0.17573	B	0.009	0.25828	B	0.006549	0.01130	U	4.963860	1	0.08975	N	0.87	0.21467	L	2.62	0.12988	T	-3.67	0.70553	D	0.243	0.32259	-0.9992	0.30143	T	0.029	0.12453	T	10	0.2224595	0.38999	T	0.001061	0.01215	T	0.028	0.06331	.	.	0.110392049598	0.10638	0.28005680441547837	0.27918	1.86795582778	0.92482	.	.	.	.	.	.	-0.326378	0.06390	T	-0.706596	0.05473	T	0.0639145414373501	0.07769	T	.	.	.	.	.	.	.	.	.	.	.	-8.044	0.61370	D	.	.	0.138	0.32756	B	.;.;.;.	.;.;.;.	0.035535	0.04534	1.227	0.73877348709050461	0.10488	0.00388	0.01954	N	AEFDBI	0.065265	0.12721	N	-1.54790257383302	0.01547	0.06756762	-1.67935926748713	0.01231	0.05548239	8.43516041031511E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.41	-2.81	0.05459	-0.685000	0.05269	.	.	-3.641000	0.00069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6012:0.0:0.3988:0.0	5.745	0.17382	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	218.25	139	chr19	54804865	.	G	T	218.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.71;DP=717;ExcessHet=0.3476;FS=5.594;MLEAC=2;MLEAF=0.143;MQ=58.89;MQRankSum=-10.93;QD=0.47;ReadPosRankSum=1.2;SOR=1.349	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1368:.	5	0	2	0
chr19	54804871	54804871	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A155G:p.H52R,KIR2DL4:NM_001080772:exon3:c.A155G:p.H52R	.	410	1016	93	3	0	99	0.0464571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.000703869014878	.	.	.	.	.	.	.	.	.	.	.	.	.	rs752329065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.992	0.03949	T	0.621	0.07419	T	0.003	0.12996	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.17	0.09006	N	2.75	0.11622	T	-3.37	0.67477	D	0.076	0.06059	-0.9219	0.45293	T	0.011	0.04321	T	9	0.061050594	0.07594	T	7.04E-4	0.00435	T	0.050	0.13987	.	.	0.305252298933	0.30134	0.14574877287000448	0.14497	1.80914359211	0.91782	.	.	.	.	.	.	-0.282495	0.10405	T	-0.643561	0.09412	T	0.0325404564850766	0.02395	T	.	.	.	.	.	.	.	.	.	.	.	-6.886	0.53196	T	.	.	0.100	0.18746	B	.;.;.;.	.;.;.;.	0.039253	0.04558	1.245	0.55635480641941515	0.05383	0.00516	0.02410	N	AEFDBI	0.041908	0.06434	N	-1.27066159650474	0.04033	0.1813008	-1.2984096394167	0.04452	0.2100502	3.65028250344946E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.504000	0.06456	.	.	-0.282000	0.06404	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0:0.0:0.0:0.0	4.935	0.13288	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	172.75	138	chr19	54804871	.	A	G	172.75	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.52;DP=733;ExcessHet=0;FS=3.707;MLEAC=1;MLEAF=0.071;MQ=58.81;MQRankSum=-5.949;QD=3.93;ReadPosRankSum=2.29;SOR=1.282	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1368:.	6	0	1	0
chr19	54804874	54804874	A	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A158C:p.Y53S,KIR2DL4:NM_001080772:exon3:c.A158C:p.Y53S	.	418	512	448	92	52	684	0.381643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00123731148339	.	.	.	.	.	.	.	.	.	.	.	.	.	rs618835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.03314	T	0.009	0.15093	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-2.005	0.00192	N	2.81	0.10975	T	-0.12	0.17003	N	0.094	0.07398	-0.9592	0.39330	T	0.005	0.01688	T	9	0.038850784	0.02333	T	0.001237	0.01658	T	0.064	0.18567	.	.	0.0934897674506	0.08844	0.30959537037651635	0.30872	2.03392677507	0.94150	.	.	.	.	.	.	-0.349958	0.04730	T	-0.740467	0.03871	T	0.0372104795728204	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	-4.582	0.31945	T	.	.	0.096	0.15385	B	.;.;.;.	.;.;.;.	-1.038539	0.00718	0.021	0.36897408776256096	0.02400	0.00044	0.00357	N	AEFDBI	0.024914	0.01621	N	-2.04652454016145	0.00168	0.00718835	-2.03550390589525	0.00257	0.01134907	6.47260531587824E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.100000	0.03450	.	.	-3.205000	0.00110	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2532:0.5344:0.2124:0.0	4.673	0.12084	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	16896.7	143	chr19	54804874	.	A	C	16896.7	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.6;DP=1280;ExcessHet=3.6764;FS=0.528;MLEAC=1;MLEAF=0.071;MQ=59.46;MQRankSum=0;QD=13.83;ReadPosRankSum=0.905;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1368:.	6	0	1	0
chr19	54804880	54804880	G	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G164T:p.R55L,KIR2DL4:NM_001080772:exon3:c.G164T:p.R55L	.	409	1018	92	3	0	98	0.0459231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.000590234751616	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200970576	6.845e-07	2.052e-06	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.707	0.14075	T	0.0	0.02946	B	0.003	0.08700	B	0.330964	0.04130	N	1.871750	1	0.08975	N	-0.59	0.02258	N	2.55	0.13795	T	-5.64	0.86914	D	0.096	0.07673	-0.9120	0.46607	T	0.001	0.00408	T	10	0.036497056	0.01952	T	5.9E-4	0.00260	T	0.011	0.01250	.	.	0.043077524339	0.03247	0.18736213989536712	0.18654	1.8200784132	0.91936	.	.	.	.	.	.	-0.317922	0.07070	T	-0.69445	0.06134	T	0.176434934139252	0.19007	T	.	.	.	.	.	.	.	.	.	.	.	-3.794	0.20715	T	.	.	0.105	0.22391	B	.;.;.;.	.;.;.;.	-2.096588	0.00081	0.001	0.52377389892480175	0.04736	0.00034	0.00302	N	AEFDBI	0.026426	0.01982	N	-2.4206702032517	0.00024	0.001049992	-2.48006166947468	0.00026	0.001135847	0.181087630750471	0.17872	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-4.363000	0.00281	.	.	-4.734000	0.00021	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3206:0.1414:0.3286:0.2094	0.680	0.00818	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	169.44	141	chr19	54804880	.	G	T	169.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.12;DP=942;ExcessHet=0;FS=4.057;MLEAC=1;MLEAF=0.071;MQ=57.57;MQRankSum=-6.021;QD=3.77;ReadPosRankSum=0.971;SOR=1.863	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1368:.	6	0	1	0
chr19	54804889	54804889	A	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A173C:p.N58T,KIR2DL4:NM_001080772:exon3:c.A173C:p.N58T	.	410	1009	100	3	0	106	0.0499058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00160012747995	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252008475	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.28	0.17643	T	0.421	0.18395	T	0.0	0.02946	B	0.004	0.10090	B	0.568075	0.11267	U	0.710467	1	0.08975	N	1.085	0.27262	L	2.81	0.10975	T	-1.31	0.33798	N	0.161	0.16864	-0.9669	0.37834	T	0.015	0.06090	T	10	0.07299557	0.10970	T	0.002	0.02574	T	0.083	0.24192	.	.	0.168254554758	0.16434	0.1070846243563384	0.10638	1.5630790888	0.88064	.	.	.	.	.	.	-0.408466	0.02035	T	-0.824509	0.01363	T	0.146632224321365	0.16832	T	.	.	.	.	.	.	.	.	.	.	.	-6.799	0.52552	T	.	.	0.159	0.35849	B	.;.;.;.	.;.;.;.	-0.436821	0.02079	0.193	0.48969850087904854	0.04130	0.00254	0.01397	N	AEFDBI	0.042854	0.06702	N	-1.61109278381861	0.01210	0.05261721	-1.73396012362405	0.00995	0.04459112	9.2797908283636E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.660000	0.02075	.	.	-3.494000	0.00081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3389:0.242:0.1805:0.2386	0.111	0.00052	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	166.45	155	chr19	54804889	.	A	C	166.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.027;DP=980;ExcessHet=0;FS=4.095;MLEAC=1;MLEAF=0.071;MQ=58.9;MQRankSum=-11.65;QD=3.62;ReadPosRankSum=1.34;SOR=1.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1368:.	6	0	1	0
chr19	54804898	54804898	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C182G:p.T61R,KIR2DL4:NM_001080772:exon3:c.C182G:p.T61R	.	407	1007	105	3	0	111	0.0522353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.000577800184532	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1347429978	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.156	0.30235	T	0.417	0.14241	T	0.008	0.14655	B	0.014	0.16862	B	0.370126	0.04357	N	1.761550	1	0.08975	N	0.19	0.09125	N	2.61	0.13095	T	-0.99	0.33798	N	0.166	0.17553	-1.0466	0.15361	T	0.034	0.14726	T	10	0.06646973	0.09122	T	5.78E-4	0.00246	T	0.004	0.00165	.	.	0.123314135267	0.11883	0.2663305671272793	0.26546	1.74321032565	0.90897	.	.	.	.	.	.	-0.374164	0.03389	T	-0.775237	0.02600	T	0.172755304063972	0.18765	T	.	.	.	.	.	.	.	.	.	.	.	-4.633	0.32583	T	.	.	0.133	0.28807	B	.;.;.;.	.;.;.;.	-1.551279	0.00265	0.004	0.59469541163751893	0.06232	0.00075	0.00520	N	AEFDBI	0.026301	0.01950	N	-1.68316153543223	0.00903	0.03908699	-1.84995237698743	0.00612	0.0271986	3.44450744240821E-4	0.06626	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-5.169000	0.00171	.	.	-4.106000	0.00042	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2563:0.3734:0.3703:0.0	4.699	0.12201	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	276.24	153	chr19	54804898	.	C	G	276.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.76;DP=993;ExcessHet=0.3476;FS=7.56;MLEAC=2;MLEAF=0.143;MQ=58.83;MQRankSum=-11.57;QD=0.54;ReadPosRankSum=1.42;SOR=1.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1368:.	5	0	2	0
chr19	54804909	54804909	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A193G:p.K65E,KIR2DL4:NM_001080772:exon3:c.A193G:p.K65E	.	408	993	118	3	0	124	0.0587678	.	.	.	2687379	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.028	0.000710582739585	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433721372	2.738e-06	4.105e-06	0	5.504e-06	2.237e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	0	2.237e-05	3.843e-05	0	0	0	1.799e-06	0	0	1.988e-05	4.605e-05	1.295e-05	2.717e-05	0.0001	5.29e-06	2.47e-06	2.279e-05	9.14e-06	0	0	0.0001	0	0	0	0	0	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.812499	0.09241	N	0.855387	1	0.08975	N	-2.415	0.00072	N	6.0	0.00603	T	1.89	0.00694	N	0.066	0.07262	-0.9319	0.43859	T	0.001	0.00188	T	10	0.020792723	0.00485	T	7.11E-4	0.00454	T	0.028	0.06331	.	.	0.102598925029	0.09809	0.08210962773506171	0.08145	2.0043789819	0.93871	.	.	.	.	.	.	-0.398459	0.02370	T	-0.810135	0.01662	T	0.0787104400289306	0.09821	T	.	.	.	.	.	.	.	.	.	.	.	1.118	0.00118	T	.	.	0.052	0.01449	B	.;.;.;.	.;.;.;.	-0.896903	0.00931	0.035	0.38092024155450582	0.02549	0.00009	0.00143	N	AEFBI	0.020365	0.00798	N	-1.95943119732616	0.00258	0.01107597	-1.91051840260318	0.00467	0.02066344	2.13546506143977E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-1.41	0.08473	0.022000	0.13402	.	.	-1.236000	0.01320	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.4688:0.0:0.5312:0.0	3.979	0.08979	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.2143	530.72	150	chr19	54804909	.	A	G	530.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.23;DP=1002;ExcessHet=1.1394;FS=6.879;MLEAC=3;MLEAF=0.214;MQ=58.67;MQRankSum=-11.58;QD=0.79;ReadPosRankSum=0.273;SOR=1.603	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1368:.	4	0	3	0
chr19	54804943	54804943	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G227A:p.R76K,KIR2DL4:NM_001080772:exon3:c.G227A:p.R76K	.	415	972	132	3	0	138	0.0662824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.000742101611331	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1258790404	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.948e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.706	0.15201	T	0.895	0.03223	T	0.0	0.02946	B	0.001	0.08700	B	0.590161	0.05587	N	1.384300	1	0.08975	N	1.445	0.36358	L	2.74	0.11730	T	-0.98	0.27259	N	0.051	0.07535	-0.9692	0.37366	T	0.025	0.10733	T	10	0.066293925	0.09070	T	7.42E-4	0.00510	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.10200965388074774	0.10131	1.54987763219	0.87883	.	.	.	.	.	.	-0.328421	0.06231	T	-0.70953	0.05319	T	0.0564412906346426	0.06597	T	.	.	.	.	.	.	.	.	.	.	.	-7.075	0.54580	T	.	.	0.117	0.27968	B	.;.;.;.	.;.;.;.	-0.709399	0.01299	0.070	0.67373079492482224	0.08335	0.00141	0.00861	N	AEFBI	0.044050	0.07041	N	-1.32507690532281	0.03391	0.1513701	-1.48749976679391	0.02446	0.1125302	6.30285219020309E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.506000	0.02375	.	.	-0.368000	0.05462	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1859:0.238:0.3354:0.2407	0.540	0.00600	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	1497.72	163	chr19	54804943	.	G	A	1497.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.1;DP=1029;ExcessHet=1.1394;FS=7.39;MLEAC=3;MLEAF=0.214;MQ=58.37;MQRankSum=-12.34;QD=2.2;ReadPosRankSum=-2.799;SOR=1.363	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1368:.	4	0	3	0
chr19	54804956	54804956	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C240G:p.N80K,KIR2DL4:NM_001080772:exon3:c.C240G:p.N80K	.	414	957	149	2	0	153	0.0740203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.000820155030123	.	.	3.423e-05	0.0003	0	0	0	0	0	0	.	.	.	rs762567496	6.845e-07	4.789e-06	1.362e-06	0	2.995e-05	0	0	.	.	2.995e-05	0	0	0	0	0	0	0	0	1.99e-05	0.0001	2.59e-05	1.36e-05	7.371e-05	5.29e-06	2.47e-06	1.954e-05	1.042e-05	7.371e-05	0	0	0	0	0	0	0	0	0	0.412	0.13699	T	0.845	0.05146	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-0.44	0.02835	N	5.79	0.00674	T	-1.03	0.27052	N	0.095	0.07535	-0.9430	0.42137	T	0.002	0.00556	T	9	0.044601202	0.03435	T	8.2E-4	0.00670	T	0.003	0.00094	.	.	0.128874641272	0.12493	0.10159306631719821	0.10090	1.72089044569	0.90581	.	.	.	.	.	.	-0.575811	0.00204	T	-0.864535	0.00796	T	0.016738042965368	0.00430	T	.	.	.	.	.	.	.	.	.	.	.	-3.17	0.12117	T	.	.	0.179	0.45895	B	.;.;.;.	.;.;.;.	-1.083170	0.00661	0.018	0.50719520210572711	0.04434	0.00148	0.00897	N	AEFBI	0.040604	0.06062	N	-1.66740233317036	0.00964	0.04176982	-1.76943638965084	0.00862	0.03853214	7.24329605389925E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-3.415000	0.00532	.	.	-3.993000	0.00048	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2368:0.2927:0.4706:0.0	4.378	0.10712	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	1753.72	167	chr19	54804956	.	C	G	1753.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.933;DP=1017;ExcessHet=1.1394;FS=5.393;MLEAC=3;MLEAF=0.214;MQ=58.43;MQRankSum=-12.49;QD=2.59;ReadPosRankSum=-1.75;SOR=1.116	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1368:.	4	0	3	0
chr19	54804960	54804960	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T244A:p.F82I,KIR2DL4:NM_001080772:exon3:c.T244A:p.F82I	.	414	959	147	2	0	151	0.0729821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00121079333076	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369685826	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.131	0.27663	T	0.066	0.49942	T	0.835	0.57185	P	0.439	0.51840	B	.	.	.	.	1	0.08975	N	2.84	0.82582	M	5.26	0.01121	T	-4.07	0.74661	D	0.527	0.55626	-1.0358	0.18606	T	0.009	0.03140	T	9	0.26590294	0.44090	T	0.001211	0.01583	T	0.125	0.34456	.	.	0.184605227958	0.18053	0.26410585650973184	0.26323	2.55136621799	0.97893	.	.	.	.	.	.	-0.229695	0.16690	T	-0.567717	0.15659	T	0.301442474126816	0.25063	T	.	.	.	.	.	.	.	.	.	.	.	-10.577	0.77288	D	.	.	0.167	0.46813	B	.;.;.;.	.;.;.;.	1.636286	0.20887	14.96	0.92714287306157606	0.22209	0.01840	0.05702	N	AEFBI	0.038078	0.05336	N	-0.973329979841069	0.09176	0.4332079	-1.27610017222819	0.04756	0.2250723	8.7197982285104E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	0.236000	0.17745	.	.	-1.223000	0.01335	0.008000	0.17931	0.000000	0.08366	0.000000	0.00833	0.2444:0.1891:0.2473:0.3192	0.084	0.00031	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	1793.72	167	chr19	54804960	.	T	A	1793.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.171;DP=1019;ExcessHet=1.1394;FS=7.022;MLEAC=3;MLEAF=0.214;MQ=58.48;MQRankSum=-12.49;QD=2.62;ReadPosRankSum=-1.259;SOR=1.216	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1368:.	4	0	3	0
chr19	54804968	54804968	T	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T252G:p.I84M,KIR2DL4:NM_001080772:exon3:c.T252G:p.I84M	.	417	956	147	2	0	151	0.0731944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.000519273134144	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325992067	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.437	0.14400	T	0.374	0.18395	T	0.42	0.35330	B	0.45	0.46092	P	.	.	.	.	1	0.08975	N	-0.585	0.02270	N	5.18	0.01178	T	1.07	0.01509	N	0.251	0.28381	-0.9332	0.43665	T	0.004	0.01435	T	9	0.07691896	0.12074	T	5.19E-4	0.00174	T	0.045	0.12272	.	.	0.117191471859	0.11215	0.08007400719172995	0.07942	1.80411115478	0.91699	.	.	.	.	.	.	-0.337573	0.05559	T	-0.722677	0.04667	T	0.127119965554841	0.15113	T	.	.	.	.	.	.	.	.	.	.	.	-6.241	0.49275	T	.	.	0.117	0.24666	B	.;.;.;.	.;.;.;.	-0.141825	0.03399	0.614	0.65607078407769726	0.07820	0.00065	0.00468	N	AEFBI	0.020411	0.00803	N	-1.5866963148947	0.01332	0.0580352	-1.74726134577514	0.00943	0.042239	1.02835550443145E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.147000	0.03298	.	.	-3.828000	0.00057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1793:0.4034:0.4173	4.771	0.12528	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	1911.72	164	chr19	54804968	.	T	G	1911.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.47;DP=1029;ExcessHet=1.1394;FS=4.031;MLEAC=3;MLEAF=0.214;MQ=58.49;MQRankSum=-12.39;QD=2.77;ReadPosRankSum=-0.833;SOR=1.194	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1368:.	4	0	3	0
chr19	54804969	54804969	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A253G:p.S85G,KIR2DL4:NM_001080772:exon3:c.A253G:p.S85G	.	417	954	149	2	0	153	0.0742358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.000781134784742	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1442335978	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-1.715	0.00343	N	2.6	0.13204	T	2.66	0.00310	N	0.108	0.09349	-0.9842	0.34022	T	0.007	0.02439	T	9	0.02619794	0.00792	T	7.81E-4	0.00588	T	0.027	0.05988	.	.	0.158540857583	0.15491	0.07738362904380575	0.07674	1.4201359302	0.85604	.	.	.	.	.	.	-0.401399	0.02267	T	-0.814358	0.01570	T	0.0549007298840621	0.06341	T	.	.	.	.	.	.	.	.	.	.	.	0.541	0.00210	T	.	.	0.074	0.05274	B	.;.;.;.	.;.;.;.	-0.420405	0.02138	0.205	0.22000706786361646	0.00865	0.00040	0.00335	N	AEFBI	0.020537	0.00821	N	-2.07894454137503	0.00142	0.006092453	-2.08140116520627	0.00204	0.009005726	2.05305321022085E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-0.375000	0.07532	.	.	-1.077000	0.01579	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4285:0.0:0.5715:0.0	7.112	0.24570	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	1872.72	163	chr19	54804969	.	A	G	1872.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.657;DP=1028;ExcessHet=1.1394;FS=5.526;MLEAC=3;MLEAF=0.214;MQ=58.49;MQRankSum=-12.35;QD=2.72;ReadPosRankSum=-0.392;SOR=1.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1368:.	4	0	3	0
chr19	54805015	54805015	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T299C:p.F100S,KIR2DL4:NM_001080772:exon3:c.T299C:p.F100S	.	419	776	326	1	0	328	0.174468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0010106159629	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796753843	2.74e-06	0.0001	2.726e-06	2.755e-06	2.7e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	1.885e-05	0	2.7e-06	0	0	5.341e-05	0.0027	7.827e-05	2.735e-05	0.0002	2.593e-05	1.856e-05	1.985e-05	1.133e-05	4.936e-05	0	6.628e-05	0	0	0	0	5.938e-05	0	0.0002	1.0	0.00964	T	0.435	0.14369	T	0.007	0.14184	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.315	0.00701	N	5.92	0.00621	T	2.62	0.00266	N	0.075	0.04913	-0.9650	0.38210	T	0.001	0.00287	T	9	0.026813924	0.00840	T	0.001011	0.01096	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.08146711258010714	0.08081	2.36001356848	0.96855	.	.	.	.	.	.	-0.43666	0.01353	T	-0.865008	0.00791	T	0.061946985667245	0.07471	T	.	.	.	.	.	.	.	.	.	.	.	1.914	0.00057	T	.	.	0.189	0.46085	B	.;.;.;.	.;.;.;.	-1.096354	0.00644	0.018	0.28837687520548816	0.01500	0.00083	0.00561	N	AEFDBI	0.025271	0.01704	N	-2.14306535979238	0.00103	0.00439903	-2.15844511365444	0.00139	0.006093682	1.25218217171751E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-6.340000	0.00086	.	.	-1.208000	0.01354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5038:0.0:0.4962	6.440	0.21047	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	3107.72	175	chr19	54805015	.	T	C	3107.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.2;DP=1077;ExcessHet=1.1394;FS=3.621;MLEAC=3;MLEAF=0.214;MQ=58.82;MQRankSum=-9.989;QD=4.19;ReadPosRankSum=1.5;SOR=1.063	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1368:.	4	0	3	0
chr19	54805016	54805016	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T300A:p.F100L,KIR2DL4:NM_001080772:exon3:c.T300A:p.F100L	.	420	774	327	1	0	329	0.17528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.000772524294317	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796792356	1.37e-06	0.0001	0	2.755e-06	8.999e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.887e-05	0	8.999e-07	0	0	5.338e-05	0.0027	7.825e-05	2.733e-05	0.0002	2.592e-05	1.855e-05	1.985e-05	1.133e-05	4.936e-05	0	6.625e-05	0	0	0	0	5.936e-05	0	0.0002	0.022	0.48642	D	0.648	0.06903	T	0.397	0.34783	B	0.333	0.42166	B	.	.	.	.	1	0.08975	N	1.665	0.42610	L	5.83	0.00652	T	-1.05	0.29933	N	0.118	0.11769	-0.9697	0.37262	T	0.003	0.01059	T	9	0.07033512	0.10217	T	7.73E-4	0.00568	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.06693528354683899	0.06631	1.94744629028	0.93356	.	.	.	.	.	.	-0.343146	0.05173	T	-0.730682	0.04297	T	0.170065227283001	0.18584	T	.	.	.	.	.	.	.	.	.	.	.	-3.333	0.14166	T	.	.	0.864	0.81864	P	.;.;.;.	.;.;.;.	0.844460	0.12165	8.711	0.72763699724305153	0.10087	0.00466	0.02241	N	AEFDBI	0.041762	0.06392	N	-1.34932054137565	0.03132	0.1394129	-1.54047774464294	0.02042	0.09334472	7.01667449997308E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.7	0.05651	-1.755000	0.01913	.	.	-1.223000	0.01335	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.256:0.3803:0.0:0.3637	2.255	0.03803	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	3263.72	176	chr19	54805016	.	T	A	3263.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.338;DP=1085;ExcessHet=1.1394;FS=4.756;MLEAC=3;MLEAF=0.214;MQ=58.82;MQRankSum=-10.02;QD=4.36;ReadPosRankSum=1.41;SOR=1.044	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1368:.	4	0	3	0
chr19	54805024	54805024	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A308G:p.H103R,KIR2DL4:NM_001080772:exon3:c.A308G:p.H103R	.	423	744	354	1	0	356	0.193059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00119188927627	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs796878779	3.426e-06	0.0002	4.09e-06	2.756e-06	1.8e-06	1e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	5.683e-05	0	1.8e-06	0	0	4.7e-05	0.0029	5.246e-05	4.127e-05	0.0002	2.151e-05	1.554e-05	1.981e-05	1.049e-05	7.471e-05	0	6.676e-05	0	0	0	0	2.979e-05	0	0.0002	0.057	0.37966	T	0.101	0.38596	T	0.009	0.15093	B	0.006	0.12133	B	0.900041	0.07350	U	1.083630	1	0.08975	N	1.245	0.31408	L	5.78	0.00681	T	-5.95	0.89152	D	0.045	0.09066	-0.9256	0.44772	T	0.003	0.00994	T	10	0.102012426	0.18672	T	0.001192	0.01533	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.03833865634309133	0.03779	1.81219128519	0.91816	.	.	.	.	.	.	-0.350096	0.04721	T	-0.740665	0.03863	T	0.0647783944973474	0.07899	T	.	.	.	.	.	.	.	.	.	.	.	-4.915	0.35903	T	.	.	0.097	0.17060	B	.;.;.;.	.;.;.;.	-0.151121	0.03348	0.592	0.69629908088386028	0.09034	0.00308	0.01632	N	AEFDBI	0.034642	0.04326	N	-1.13086835408799	0.06101	0.2799287	-1.26988241760385	0.04843	0.2294386	2.01186922009763E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-0.942	0.09869	-3.960000	0.00366	.	.	0.517000	0.23534	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5371:0.0:0.4629:0.0	4.279	0.10270	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	3975.72	181	chr19	54805024	.	A	G	3975.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.157;DP=1098;ExcessHet=1.1394;FS=4.473;MLEAC=3;MLEAF=0.214;MQ=58.78;MQRankSum=-9.402;QD=5.22;ReadPosRankSum=0.392;SOR=0.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1368:.	4	0	3	0
chr19	54805033	54805033	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C317T:p.T106I,KIR2DL4:NM_001080772:exon3:c.C317T:p.T106I	.	424	690	407	1	0	409	0.228619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.000700822115211	.	.	.	.	.	.	.	.	.	.	0.0009605	25	26028	rs796513163	7.541e-06	0.0002	2.728e-06	1.241e-05	2.239e-05	4.05e-06	2.96e-06	8.4e-07	5.7e-07	0	2.239e-05	3.862e-05	0	7.619e-05	0	3.601e-06	0	1.166e-05	3.338e-05	0.0029	5.221e-05	1.366e-05	0.0006	1.276e-05	8.09e-06	0.0002	9.396e-05	2.468e-05	0	0	0	0	0	0	1.485e-05	0	0.0006	0.142	0.25768	T	0.321	0.19073	T	0.003	0.11197	B	0.004	0.10090	B	0.591279	0.05593	U	1.381260	1	0.08975	N	2	0.54354	M	2.55	0.13795	T	-2.95	0.63901	D	0.118	0.10769	-0.9874	0.33249	T	0.033	0.14334	T	10	0.060203582	0.07359	T	7.01E-4	0.00435	T	0.024	0.04979	.	.	0.0675242888579	0.06100	0.04331565967951002	0.04276	1.63047291344	0.89215	.	.	.	.	.	.	-0.366031	0.03800	T	-0.763555	0.02987	T	0.0524682142329862	0.05929	T	.	.	.	.	.	.	.	.	.	.	.	-9.207	0.69223	D	.	.	0.216	0.46273	B	.;.;.;.	.;.;.;.	0.032458	0.04511	1.213	0.83014543442455713	0.14496	0.00242	0.01343	N	AEFDBI	0.041998	0.06460	N	-1.24619832928253	0.04350	0.1961546	-1.41778311686848	0.03074	0.1426955	1.1506097044956E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-2.28	0.06438	-1.970000	0.01595	.	.	-0.553000	0.04888	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6794:0.3206:0.0:0.0	6.335	0.20497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	4725.13	187	chr19	54805033	.	C	T	4725.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.254;DP=1154;ExcessHet=2.5225;FS=7.23;MLEAC=4;MLEAF=0.286;MQ=58.84;MQRankSum=-8.47;QD=4.5;ReadPosRankSum=-1.261;SOR=0.958	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1368:.	3	0	4	0
chr19	54805068	54805068	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A352G:p.M118V,KIR2DL4:NM_001080772:exon3:c.A352G:p.M118V	.	425	605	491	1	0	493	0.289489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000896150500463	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs377158496	7.372e-05	0.0003	4.11e-05	0.0001	0.0004	6.225e-05	5.782e-05	6.542e-05	6.1e-05	0	0	3.935e-05	7.58e-05	0.0001	0.0004	7.939e-05	8.332e-05	3.521e-05	1.994e-05	0.0009	1.3e-05	2.72e-05	0.0004	5.3e-06	2.47e-06	7.542e-05	3.122e-05	0	0	0	0	0	9.517e-05	0	0	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.009	0.15093	B	0.004	0.10090	B	0.167963	0.03088	N	2.088310	1	0.08975	N	-0.475	0.02701	N	2.74	0.11730	T	0.19	0.06868	N	0.074	0.06587	-1.0167	0.24787	T	0.015	0.06282	T	10	0.027635008	0.00906	T	8.96E-4	0.00822	T	0.014	0.01968	.	.	0.143184338766	0.13958	0.03977817011760987	0.03923	1.56059685374	0.88033	.	.	.	.	.	.	-0.414852	0.01846	T	-0.833683	0.01198	T	0.0837077051401138	0.10455	T	.	.	.	.	.	.	.	.	.	.	.	-1.865	0.02998	T	.	.	0.077	0.08899	B	.;.;.;.	.;.;.;.	-0.512683	0.01826	0.145	0.81087781055770536	0.13513	0.00133	0.00820	N	AEFDBI	0.025271	0.01704	N	-1.41486537055219	0.02508	0.1108357	-1.45837055724275	0.02695	0.1244398	1.6772618897357E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-0.275	0.12268	-1.056000	0.03600	.	.	-1.196000	0.01368	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.6062:0.0:0.3938:0.0	3.173	0.06167	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	5827.13	183	chr19	54805068	.	A	G	5827.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.424;DP=1107;ExcessHet=2.5225;FS=6.181;MLEAC=4;MLEAF=0.286;MQ=58.6;MQRankSum=-7.554;QD=5.86;ReadPosRankSum=-0.356;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1368:.	3	0	4	0
chr19	54805957	54805957	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A368T:p.Y123F,KIR2DL4:NM_001080772:exon4:c.A368T:p.Y123F	.	425	734	362	1	0	364	0.19869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000412457697702	.	.	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs548305067	6.874e-07	4.789e-06	0	1.382e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	0	2.635e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.083	0.33091	T	0.185	0.45744	T	0.029	0.25941	B	0.11	0.35187	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	5.76	0.00695	T	-2.94	0.62863	D	0.143	0.19055	-0.9456	0.41715	T	0.005	0.01651	T	9	0.09953773	0.18069	T	4.12E-4	0.00078	T	0.026	0.05648	.	.	0.0934897674506	0.08844	0.027781850178691565	0.02728	1.64456428975	0.89413	.	.	.	.	.	.	-0.296197	0.09024	T	-0.663243	0.08049	T	0.040030807459604	0.03696	T	.	.	.	.	.	.	.	.	.	.	.	-6.322	0.59734	T	.	.	0.166	0.39731	B	.;.;.;.;.;.	.;.;.;.;.;.	1.365047	0.17746	13.34	0.8690361499563457	0.16852	0.00313	0.01653	N	AEFDBI	0.037221	0.05085	N	-0.949558894302633	0.09702	0.4603585	-1.11896342680627	0.07338	0.3565461	1.17956831403963E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.172	0.12673	-0.279000	0.08512	.	.	-0.540000	0.04934	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5945:0.4055:0.0:0.0	3.728	0.08011	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	4352.11	174	chr19	54805957	.	A	T	4352.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=3.43;DP=1267;ExcessHet=4.7409;FS=7.958;MLEAC=5;MLEAF=0.357;MQ=57.01;MQRankSum=-13.09;QD=4.16;ReadPosRankSum=0.61;SOR=1.411	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:95,0:95:99:.:.:0,120,1800:.	2	0	5	0
chr19	54805960	54805960	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A371G:p.E124G,KIR2DL4:NM_001080772:exon4:c.A371G:p.E124G	.	423	736	362	1	0	364	0.198257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.000765021981206	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs796298317	6.871e-07	4.789e-06	0	1.381e-06	9.009e-07	0	0	.	.	0	0	0	0	0	0	9.009e-07	0	0	0	2.634e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.122	0.27663	T	0.119	0.39190	T	0.007	0.14184	B	0.002	0.12133	B	.	.	.	.	1	0.08975	N	-0.045	0.04980	N	2.62	0.12988	T	-3.74	0.71042	D	0.211	0.23506	-0.9370	0.43088	T	0.002	0.00676	T	9	0.05600232	0.06209	T	7.65E-4	0.00549	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.06409426405292065	0.06348	1.75526258725	0.91031	.	.	.	.	.	.	-0.331698	0.05984	T	-0.714237	0.05079	T	0.0368346457453638	0.03126	T	.	.	.	.	.	.	.	.	.	.	.	-2.952	0.34463	T	.	.	0.072	0.17103	B	.;.;.;.;.;.	.;.;.;.;.;.	0.634502	0.10029	6.781	0.88093227450565881	0.17711	0.00125	0.00780	N	AEFDBI	0.028794	0.02603	N	-1.26647521352365	0.04087	0.1837661	-1.38178856189957	0.03446	0.1607592	2.06444612407306E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.55	0.08105	-0.492000	0.06547	.	.	-1.507000	0.01020	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5179:0.0:0.4821:0.0	4.324	0.10473	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	4916.11	184	chr19	54805960	.	A	G	4916.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=3.06;DP=1304;ExcessHet=4.7409;FS=6.296;MLEAC=5;MLEAF=0.357;MQ=56.94;MQRankSum=-13.44;QD=4.54;ReadPosRankSum=0.472;SOR=1.333	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:95,0:95:99:.:.:0,120,1800:.	2	0	5	0
chr19	54805974	54805974	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A385T:p.T129S,KIR2DL4:NM_001080772:exon4:c.A385T:p.T129S	.	422	677	422	1	0	424	0.23847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00369938800555	.	.	5.567e-05	0	0.0007	0	0	0	0	0	.	.	.	rs748394765	3.431e-06	1.3e-05	4.096e-06	2.759e-06	2.701e-06	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.701e-06	3.326e-05	0	6.662e-06	6.588e-05	1.3e-05	0	6.616e-05	0	0	.	.	0	0	6.616e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.001108	0.00740	N	7.200430	1	0.08975	N	-3.165	0.00009	N	2.73	0.11839	T	1.22	0.01712	N	0.056	0.03613	-0.8748	0.50166	T	0.006	0.01870	T	10	0.013647258	0.00289	T	0.003699	0.08558	T	0.102	0.29158	.	.	0.143184338766	0.13958	0.027044094549388754	0.02654	1.39109223815	0.85005	.	.	.	.	.	.	-0.462046	0.00955	T	-0.901474	0.00492	T	0.0748926305845455	0.09321	T	.	.	.	.	.	.	.	.	.	.	.	-0.763	0.00889	T	.	.	0.064	0.05845	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.834838	0.01040	0.044	0.53029054606884674	0.04860	0.00012	0.00170	N	AEFDBI	0.015392	0.00291	N	-2.01882774161932	0.00193	0.008257516	-1.94356271259806	0.00400	0.01770385	1.17063954684405E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.0469	0.13174	0.292000	0.18766	.	.	-0.624000	0.04539	0.002000	0.15269	0.000000	0.08366	0.005000	0.06747	0.3872:0.0:0.0:0.6128	3.134	0.06046	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	7636.11	202	chr19	54805974	.	A	T	7636.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=4.08;DP=1447;ExcessHet=4.7409;FS=4.344;MLEAC=5;MLEAF=0.357;MQ=56.86;MQRankSum=-13.23;QD=6.23;ReadPosRankSum=0.044;SOR=1.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:95,0:95:99:.:.:0,120,1800:.	2	0	5	0
chr19	54805981	54805981	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G392A:p.R131Q,KIR2DL4:NM_001080772:exon4:c.G392A:p.R131Q	.	421	659	441	1	0	443	0.251562	.	.	.	3452252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.000941604155589	.	.	0.0003	0	0.0013	0	0	0.0002	0	0.0016	0.001921	50	26028	rs202246882	5.279e-05	6.294e-05	3.955e-05	6.616e-05	0.0003	4.287e-05	3.961e-05	0.0002	0.0002	0	0.0001	0	7.564e-05	0	0.0002	3.51e-05	6.642e-05	0.0003	0.0001	0.0002	0.0001	0.0001	0.0008	8.284e-05	6.82e-05	0.0005	0.0004	7.44e-05	0	0.0008	0	0	0	0	2.956e-05	0	0.0004	1.0	0.00964	T	1.0	0.03910	T	0.0	0.13644	B	0.0	0.04355	B	0.464890	0.04891	N	1.542390	1	0.08975	N	-2.565	0.00047	N	2.75	0.11622	T	2.25	0.00472	N	0.04	0.03069	-0.9519	0.40643	T	0.004	0.01295	T	10	0.015721977	0.00330	T	9.42E-4	0.00934	T	0.013	0.01715	.	.	0.174091166621	0.17034	0.021095889007445256	0.02062	1.71924122415	0.90548	.	.	.	.	.	.	-0.714436	0.00030	T	-0.905433	0.00465	T	0.0501607574657884	0.05529	T	.	.	.	.	.	.	.	.	.	.	.	-0.217	0.00435	T	.	.	0.065	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.525354	0.01788	0.138	0.73410874544489724	0.10318	0.00030	0.00276	N	AEFDBI	0.021298	0.00932	N	-2.17374974192811	0.00088	0.003751786	-2.12833273597635	0.00161	0.007103925	2.59535722897861E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.94	0.07158	-1.595000	0.02196	.	.	-0.581000	0.04707	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4314:0.0:0.2508:0.3177	1.446	0.02221	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002345	0.000000	0.004167	0.011628	0.000000	0.000000	0.000000	0.004202	0.3571	9049.11	225	chr19	54805981	.	G	A	9049.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=3.89;DP=1535;ExcessHet=4.7409;FS=3.149;MLEAC=5;MLEAF=0.357;MQ=56.95;MQRankSum=-12.62;QD=6.89;ReadPosRankSum=0;SOR=0.996	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:95,0:95:99:.:.:0,120,1800:.	2	0	5	0
chr19	54806034	54806034	C	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C445A:p.Q149K,KIR2DL4:NM_001080772:exon4:c.C445A:p.Q149K	.	416	603	500	3	0	506	0.295561	.	.	.	2327274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.000600995199084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796139593	2.054e-06	2.189e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	6.586e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.466	0.21545	T	0.028	0.19712	B	0.019	0.26717	B	0.218530	0.03437	U	2.191760	1	0.08975	N	1.17	0.29769	L	2.69	0.12268	T	-0.65	0.22944	N	0.106	0.13484	-1.0136	0.25784	T	0.041	0.17446	T	10	0.07830647	0.12465	T	6.01E-4	0.00274	T	0.027	0.05988	.	.	0.15499578495	0.15088	0.030426962936334883	0.02991	1.86795582778	0.92482	.	.	.	.	.	.	-0.327326	0.06316	T	-0.707957	0.05402	T	0.07779072841769	0.09702	T	.	.	.	.	.	.	.	.	.	.	.	-3.072	0.14113	T	.	.	0.095	0.16143	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.261443	0.00472	0.010	0.57104873323543892	0.05696	0.00143	0.00871	N	AEFDBI	0.036756	0.04948	N	-1.49293136850256	0.01900	0.08334951	-1.67917428157046	0.01232	0.05552245	1.96384650934533E-4	0.05898	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.04	-2.07	0.06873	-1.932000	0.01645	.	.	-5.196000	0.00013	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4754:0.2961:0.2285	4.213	0.09977	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	13581.1	274	chr19	54806034	.	C	A	13581.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.398;DP=2464;ExcessHet=4.7409;FS=0;MLEAC=5;MLEAF=0.357;MQ=56.72;MQRankSum=-13.3;QD=8.23;ReadPosRankSum=1.75;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:314,0:314:99:.:.:0,120,1800:.	2	0	5	0
chr19	54806035	54806035	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A446G:p.Q149R,KIR2DL4:NM_001080772:exon4:c.A446G:p.Q149R	.	417	602	500	3	0	506	0.295906	.	.	.	2338656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.005	0.000698231574451	.	.	0	0	0	0	0	0	0	0	.	.	.	rs746343340	2.328e-05	5.747e-05	1.226e-05	3.441e-05	0.0003	1.676e-05	1.479e-05	0.0003	0.0002	0	0	0	0	0	0	2.699e-06	1.658e-05	0.0003	1.998e-05	0.0002	0	4.097e-05	0.0006	5.31e-06	2.47e-06	0.0002	9.372e-05	0	0	0	0	0	0	0	0	0	0.0006	1.0	0.00964	T	0.716	0.08505	T	0.0	0.07471	B	0.002	0.19048	B	0.218530	0.03437	N	2.191760	1	0.08975	N	-0.41	0.02942	N	2.67	0.12473	T	0.01	0.11185	N	0.051	0.02861	-0.9819	0.34561	T	0.015	0.05849	T	10	0.022258013	0.00551	T	6.98E-4	0.00435	T	0.005	0.00259	.	.	0.20808081866	0.20439	0.018312308498273373	0.01785	1.62690945155	0.89163	.	.	.	.	.	.	-0.395299	0.02485	T	-0.805596	0.01766	T	0.0361073549231356	0.02999	T	.	.	.	.	.	.	.	.	.	.	.	-0.457	0.00626	T	.	.	0.059	0.01645	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.548845	0.01717	0.126	0.1435906815429033	0.00314	0.00175	0.01031	N	AEFDBI	0.030820	0.03175	N	-2.16967246651284	0.00090	0.003831711	-2.20712287736297	0.00108	0.004744652	1.07926449648836E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.76	0.07574	-0.066000	0.11556	.	.	-3.284000	0.00100	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7891:0.0:0.2109:0.0	6.415	0.20912	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3571	13566.1	276	chr19	54806035	.	A	G	13566.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.83;DP=2458;ExcessHet=4.7409;FS=0;MLEAC=5;MLEAF=0.357;MQ=56.71;MQRankSum=-13.36;QD=8.19;ReadPosRankSum=1.88;SOR=0.64	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:314,0:314:99:.:.:0,120,1800:.	2	0	5	0
chr19	54806051	54806051	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C462G:p.I154M,KIR2DL4:NM_001080772:exon4:c.C462G:p.I154M	.	413	617	488	4	0	496	0.286705	.	.	.	2309998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.000542649328314	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs112266387	6.846e-07	1.916e-05	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.643e-06	3.949e-05	0	1.361e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.265	0.28300	T	0.001	0.13644	B	0.005	0.26717	B	0.021564	0.01555	N	4.036070	1	0.08975	N	-1.185	0.00856	N	2.71	0.12055	T	0.58	0.03824	N	0.052	0.04913	-0.9508	0.40833	T	0.016	0.06329	T	10	0.01567614	0.00329	T	5.43E-4	0.00196	T	0.009	0.00846	.	.	0.158540857583	0.15491	0.022625134842526706	0.02214	1.56269628182	0.88057	.	.	.	.	.	.	-0.406495	0.02098	T	-0.821678	0.01419	T	0.0491104212058717	0.05343	T	.	.	.	.	.	.	.	.	.	.	.	-3.48	0.28982	T	.	.	0.069	0.06617	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.681431	0.00202	0.003	0.30573155537778873	0.01679	0.00033	0.00296	N	AEFDBI	0.022408	0.01117	N	-2.59438172759116	0.00009	0.0004174465	-2.64788836212231	0.00010	0.0004634108	0.947304446228941	0.27746	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-2.09	0.06831	-1.305000	0.02846	.	.	-0.638000	0.04459	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.4374:0.2279:0.3346	4.6	0.11740	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3571	12878.1	281	chr19	54806051	.	C	G	12878.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.294;DP=2491;ExcessHet=4.7409;FS=1.314;MLEAC=5;MLEAF=0.357;MQ=56.99;MQRankSum=-13.36;QD=7.59;ReadPosRankSum=2.95;SOR=0.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:314,0:314:99:.:.:0,120,1800:.	2	0	5	0
chr19	54806073	54806074	GA	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon4:c.484_485del:p.E162Sfs*3,KIR2DL4:NM_001080772:exon4:c.484_485del:p.E162Sfs*3	.	409	636	474	3	0	480	0.273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.63e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	11995.1	283	chr19	54806072	.	GGA	G	11995.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.041;DP=2515;ExcessHet=4.7409;FS=3.043;MLEAC=5;MLEAF=0.357;MQ=57.23;MQRankSum=-13.27;QD=6.97;ReadPosRankSum=1.83;SOR=0.842	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:314,0:314:99:.:.:0,120,1800:.	2	0	5	0
chr19	54806075	54806075	-	GG	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon4:c.486_487insGG:p.A163Gfs*78,KIR2DL4:NM_001080772:exon4:c.486_487insGG:p.A163Gfs*83	.	415	630	474	3	0	480	0.275862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.633e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	11971.1	281	chr19	54806075	.	A	AGG	11971.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.193;DP=2508;ExcessHet=4.7409;FS=3.09;MLEAC=5;MLEAF=0.357;MQ=57.23;MQRankSum=-13.15;QD=6.98;ReadPosRankSum=1.46;SOR=0.896	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:314,0:314:99:.:.:0,120,1800:.	2	0	5	0
chr19	54806086	54806086	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T497C:p.L166P,KIR2DL4:NM_001080772:exon4:c.T497C:p.L166P	.	417	638	464	3	0	470	0.269187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00126561986838	.	.	.	.	.	.	.	.	.	.	0.0108345	282	26028	rs112694450	2.054e-06	2.668e-05	1.362e-06	2.752e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.176	0.28772	T	0.247	0.31026	T	0.008	0.14655	B	0.01	0.16012	B	.	.	.	.	1	0.08975	N	0.96	0.23930	L	5.72	0.00726	T	-3.32	0.68764	D	0.048	0.08088	-0.8920	0.48758	T	0.002	0.00676	T	9	0.05647248	0.06334	T	0.001266	0.01708	T	0.084	0.24469	.	.	0.043077524339	0.03247	0.029543096631376373	0.02903	2.22587521974	0.95901	.	.	.	.	.	.	-0.333176	0.05874	T	-0.71636	0.04974	T	0.06923972269659	0.08545	T	.	.	.	.	.	.	.	.	.	.	.	-6.488	0.50992	T	.	.	0.125	0.36889	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.541643	0.01739	0.130	0.30546163533684245	0.01676	0.00084	0.00566	N	AEFDBI	0.040908	0.06150	N	-1.75954112441418	0.00652	0.02811985	-1.89857749402206	0.00493	0.0218348	4.00468085139758E-4	0.06820	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-4.522000	0.00254	.	.	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2448:0.2837:0.2446:0.2269	0.244	0.00182	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	11759.1	287	chr19	54806086	.	T	C	11759.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.621;DP=2489;ExcessHet=4.7409;FS=5.174;MLEAC=5;MLEAF=0.357;MQ=57.31;MQRankSum=-13.31;QD=6.94;ReadPosRankSum=-0.946;SOR=1.055	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:314,0:314:99:.:.:0,120,1800:.	2	0	5	0
chr19	54806109	54806109	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A520G:p.I174V,KIR2DL4:NM_001080772:exon4:c.A520G:p.I174V	.	416	679	424	3	0	430	0.240492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00150018900562	.	.	.	.	.	.	.	.	.	.	0.0017673	46	26028	rs200435373	4.107e-06	8.21e-06	4.086e-06	4.128e-06	8.986e-05	1.48e-06	9.7e-07	2.381e-05	1.26e-05	8.986e-05	4.474e-05	0	0	0	0	8.995e-07	0	0	3.982e-05	6.581e-05	5.185e-05	2.72e-05	9.852e-05	1.73e-05	1.139e-05	3.296e-05	1.946e-05	9.852e-05	0	0	0	0	0	0	2.95e-05	0	0	1.0	0.00964	T	0.716	0.08273	T	0.0	0.02946	B	0.0	0.04355	B	0.000015	0.00162	N	21.575300	1	0.08975	N	-1.765	0.00315	N	2.72	0.11947	T	0.4	0.04022	N	0.064	0.09349	-0.9697	0.37262	T	0.008	0.02968	T	9	0.026097596	0.00785	T	0.002	0.02318	T	0.047	0.12962	.	.	0.043077524339	0.03247	0.009202094420106284	0.00883	1.30891436969	0.83166	.	.	.	.	.	.	-0.448991	0.01145	T	-0.882721	0.00632	T	0.0586992040478046	0.06962	T	.	.	.	.	.	.	.	.	.	.	.	-0.517	0.02545	T	.	.	0.065	0.05360	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.275204	0.00054	0.001	0.16757461822379344	0.00462	0.00104	0.00666	N	AEFDBI	0.027275	0.02201	N	-2.5106296527513	0.00015	0.0006516505	-2.51493381181123	0.00021	0.0009431019	0.0431614665892215	0.14558	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.854	0.10163	-0.997000	0.03816	.	.	-2.920000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	10119.1	283	chr19	54806109	.	A	G	10119.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.304;DP=2406;ExcessHet=4.7409;FS=6.687;MLEAC=5;MLEAF=0.357;MQ=57.61;MQRankSum=-13.22;QD=6.28;ReadPosRankSum=-2.327;SOR=1.264	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:314,0:314:99:.:.:0,120,1800:.	2	0	5	0
chr19	54806112	54806112	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A523G:p.N175D,KIR2DL4:NM_001080772:exon4:c.A523G:p.N175D	.	414	926	180	2	0	184	0.0903733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00143953544246	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs796888355	6.845e-07	4.105e-06	1.362e-06	0	1.164e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.164e-05	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.03	0.45393	D	0.337	0.18178	T	0.002	0.09854	B	0.007	0.12992	B	0.005772	0.01094	U	5.332710	1	0.08975	N	0.345	0.11182	N	2.53	0.14038	T	-2.93	0.61865	D	0.138	0.13626	-0.9903	0.32525	T	0.026	0.11220	T	9	0.087477654	0.14971	T	0.00144	0.02164	T	0.015	0.02232	.	.	0.220282294035	0.21616	0.006777662489737481	0.00644	1.71896696176	0.90540	.	.	.	.	.	.	-0.416589	0.01799	T	-0.836177	0.01158	T	0.0856821440474374	0.10698	T	.	.	.	.	.	.	.	.	.	.	.	-7.374	0.57236	T	.	.	0.120	0.29060	B	.;.;.;.;.;.	.;.;.;.;.;.	0.412746	0.07838	4.531	0.79727465880553572	0.12873	0.00046	0.00367	N	AEFDBI	0.025639	0.01789	N	-1.25407888021563	0.04246	0.1912621	-1.39176687369686	0.03339	0.1555523	1.44639492226876E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.795	0.10364	-0.556000	0.06082	.	.	0.352000	0.19979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	2882.72	285	chr19	54806112	.	A	G	2882.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1;DP=2366;ExcessHet=1.1394;FS=6.205;MLEAC=3;MLEAF=0.214;MQ=57.42;MQRankSum=-13.28;QD=2.44;ReadPosRankSum=-2.219;SOR=1.336	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:314,0:314:99:.:.:0,120,1800:.	4	0	3	0
chr19	54806161	54806161	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A572G:p.E191G,KIR2DL4:NM_001080772:exon4:c.A572G:p.E191G	.	416	1062	43	1	0	45	0.0207469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00319016254727	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482608476	1.369e-06	2.805e-05	0	2.752e-06	1.164e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	0	1.164e-05	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.197140	0.03293	U	2.244820	1	0.08975	N	-2.95	0.00016	N	6.83	0.00484	T	4.86	0.00044	N	0.172	0.19190	-0.8522	0.51816	T	0.000	0.00075	T	10	0.030806363	0.01209	T	0.00319	0.06996	T	0.125	0.34456	.	.	0.0675242888579	0.06100	0.08634734685735217	0.08568	1.74118563909	0.90866	.	.	.	.	.	.	-0.3614	0.04051	T	-0.756902	0.03225	T	0.0659469353070313	0.08069	T	.	.	.	.	.	.	.	.	.	.	.	1.576	0.00090	T	.	.	0.029	0.00020	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.208131	0.03048	0.471	0.28823449377494542	0.01499	0.00008	0.00134	N	AEFDBI	0.016221	0.00352	N	-2.10568283398864	0.00124	0.005325665	-2.01989730429939	0.00278	0.01226669	1.20238691917371E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.418	0.11728	0.692000	0.25161	.	.	-0.573000	0.04775	0.027000	0.20232	0.000000	0.08366	0.003000	0.05239	0.3266:0.0:0.6734:0.0	3.278	0.06497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	635.37	213	chr19	54806161	.	A	G	635.37	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.75;DP=2015;ExcessHet=0.3476;FS=25.986;MLEAC=2;MLEAF=0.143;MQ=58.43;MQRankSum=-14.55;QD=1.49;ReadPosRankSum=2.31;SOR=3.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:314,0:314:99:.:.:0,120,1800:.	5	0	2	0
chr19	54806170	54806170	G	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G581C:p.R194T,KIR2DL4:NM_001080772:exon4:c.G581C:p.R194T	.	417	1070	33	1	1	36	0.016092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00167460938054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs903729815	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.607e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.068	0.35726	T	0.014	0.62352	D	0.843	0.60733	P	0.609	0.61644	P	0.908863	0.07403	N	1.076150	1	0.08975	N	2.435	0.70606	M	2.92	0.09915	T	-4.66	0.79482	D	0.251	0.41656	-1.0562	0.12724	T	0.069	0.28247	T	10	0.32319447	0.49660	T	0.001675	0.02753	T	0.086	0.25016	.	.	0.341886373756	0.33793	0.0825432362972079	0.08189	3.18632837919	0.99467	.	.	.	.	.	.	-0.182359	0.23386	T	-0.499722	0.22376	T	0.762926518917084	0.44021	D	.	.	.	.	.	.	.	.	.	.	.	-7.108	0.64010	T	.	.	0.181	0.51583	B	.;.;.;.;.;.	.;.;.;.;.;.	1.917375	0.24354	16.36	0.92977417747853819	0.22558	0.01550	0.05082	N	AEFDBI	0.044415	0.07142	N	-0.40202933579575	0.25397	1.378405	-0.700629391342907	0.16944	0.8987731	1.66932649274431E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	0.728	0.17411	0.730000	0.25711	.	.	-1.575000	0.00928	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	4.805	0.12681	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	566.24	212	chr19	54806170	.	G	C	566.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.92;DP=2003;ExcessHet=0.3476;FS=23.595;MLEAC=2;MLEAF=0.143;MQ=58.62;MQRankSum=-14.51;QD=1.4;ReadPosRankSum=0.645;SOR=3.469	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:314,0:314:99:.:.:0,120,1800:.	5	0	2	0
chr19	54806184	54806184	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T595C:p.F199L,KIR2DL4:NM_001080772:exon4:c.T595C:p.F199L	.	418	1073	30	1	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00128745751053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169726842	0	1.095e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	5.266e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.191	0.21066	T	0.247	0.26066	T	0.043	0.21573	B	0.027	0.21085	B	0.005759	0.01093	N	5.479650	1	0.08975	N	0.64	0.16041	N	5.85	0.00643	T	-3.62	0.69593	D	0.061	0.03502	-0.9217	0.45320	T	0.003	0.00929	T	10	0.099934906	0.18167	T	0.001287	0.01784	T	0.052	0.14661	.	.	0.290620346082	0.28682	0.02907533590376118	0.02856	2.04366087562	0.94286	.	.	.	.	.	.	-0.26258	0.12600	T	-0.614955	0.11585	T	0.0610753484070301	0.07336	T	.	.	.	.	.	.	.	.	.	.	.	-6.709	0.51878	T	.	.	0.675	0.82233	P	.;.;.;.;.;.	.;.;.;.;.;.	-0.166739	0.03264	0.556	0.74081094485100063	0.10563	0.00161	0.00961	N	AEFBI	0.035128	0.04469	N	-1.23634316811277	0.04483	0.2024168	-1.37910423948924	0.03475	0.1621945	1.81584576774125E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.617	0.10999	-2.589000	0.00974	.	.	-3.015000	0.00138	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4179:0.0:0.0:0.5821	2.752	0.04959	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	444.44	199	chr19	54806184	.	T	C	444.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.89;DP=1643;ExcessHet=0;FS=9.92;MLEAC=1;MLEAF=0.071;MQ=56.5;MQRankSum=-9.263;QD=5.05;ReadPosRankSum=-0.922;SOR=1.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:314,0:314:99:.:.:0,120,1800:.	6	0	1	0
chr19	54806191	54806191	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G602A:p.G201E,KIR2DL4:NM_001080772:exon4:c.G602A:p.G201E	.	417	1081	23	1	0	25	0.0114312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000933240469926	.	.	.	.	.	.	.	.	.	.	.	.	.	rs751766410	2.739e-06	1.779e-05	2.725e-06	2.753e-06	6.004e-05	6.4e-07	4.3e-07	9.94e-06	3.72e-06	6.004e-05	0	0	0	0	0	0	0	2.329e-05	0	3.949e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.989	0.03205	T	0.007	0.14184	B	0.017	0.18140	B	0.000834	0.00693	N	25.857100	1	0.08975	N	0.385	0.12166	N	5.77	0.00687	T	-0.11	0.09796	N	0.067	0.12198	-0.8412	0.52567	T	0.002	0.00526	T	10	0.035131097	0.01749	T	9.33E-4	0.00911	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.014322109949426428	0.01389	1.91097436102	0.92909	.	.	.	.	.	.	-0.406241	0.02106	T	-0.821313	0.01426	T	0.152467426749554	0.17299	T	.	.	.	.	.	.	.	.	.	.	.	-5.575	0.45358	T	.	.	0.110	0.31330	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.356574	0.00045	0.001	0.63035751494400261	0.07118	0.00046	0.00367	N	AEFBI	0.026834	0.02083	N	-2.40257893415306	0.00027	0.001151865	-2.47848935217197	0.00026	0.001144284	0.126168324027902	0.16994	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-5.953000	0.00107	.	.	-2.820000	0.00180	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3698:0.2864:0.3438:0.0	3.815	0.08326	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	480.44	192	chr19	54806191	.	G	A	480.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.223;DP=1639;ExcessHet=0;FS=9.648;MLEAC=1;MLEAF=0.071;MQ=56.32;MQRankSum=-9.416;QD=5.28;ReadPosRankSum=-1.36;SOR=1.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:314,0:314:99:.:.:0,120,1800:.	6	0	1	0
chr19	54808838	54808838	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.C661T:p.P221S,KIR2DL4:NM_001080772:exon5:c.C661T:p.P221S	.	424	736	361	1	0	363	0.19782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000621740094912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.39e-06	2.737e-06	0	2.789e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.144e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.21968	T	0.279	0.21745	T	0.006	0.13644	B	0.003	0.08700	B	0.046212	0.01956	U	5.272780	1	0.08975	N	0.045	0.08109	N	7.05	0.00450	T	-2.36	0.55025	N	0.061	0.06587	-0.9252	0.44829	T	0.001	0.00255	T	10	0.058746576	0.06953	T	6.22E-4	0.00303	T	0.018	0.03083	.	.	0.0675242888579	0.06100	0.02819159353811284	0.02769	1.54876453167	0.87867	.	.	.	.	.	.	-0.366904	0.03753	T	-0.764809	0.02943	T	0.114286564290524	0.13862	T	.	.	.	.	.	.	.	.	.	.	.	-4.184	0.26519	T	.	.	0.104	0.18950	B	.;.;.;.	.;.;.;.	-0.289144	0.02665	0.341	0.41441202538805488	0.02990	0.00018	0.00208	N	AEFBI	0.019551	0.00689	N	-1.61870495931056	0.01174	0.05102983	-1.71290992187964	0.01081	0.04855486	3.23883740516504E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-0.587000	0.05874	.	.	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2772:0.3273:0.3955	2.159	0.03587	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	10056.1	276	chr19	54808838	.	C	T	10056.1	.	AC=4;AF=0.286;AN=14;BaseQRankSum=4.4;DP=1648;ExcessHet=2.5225;FS=2.262;MLEAC=4;MLEAF=0.286;MQ=57.35;MQRankSum=-15.2;QD=6.46;ReadPosRankSum=1.4;SOR=0.952	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	3	0	4	0
chr19	54808851	54808852	GG	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon5:c.674_675del:p.W225Sfs*5,KIR2DL4:NM_001080772:exon5:c.674_675del:p.W225Sfs*5	.	420	753	348	1	0	350	0.188578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	11505.1	298	chr19	54808850	.	TGG	T	11505.1	.	AC=4;AF=0.286;AN=14;BaseQRankSum=3.41;DP=1741;ExcessHet=2.5225;FS=1.35;MLEAC=4;MLEAF=0.286;MQ=57.51;MQRankSum=-14.6;QD=7.01;ReadPosRankSum=-0.778;SOR=0.813	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	3	0	4	0
chr19	54808853	54808853	-	AT	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon5:c.676_677insAT:p.P226Hfs*15,KIR2DL4:NM_001080772:exon5:c.676_677insAT:p.P226Hfs*20	.	419	755	347	1	0	349	0.187735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	11494.1	298	chr19	54808853	.	C	CAT	11494.1	.	AC=4;AF=0.286;AN=14;BaseQRankSum=3.09;DP=1744;ExcessHet=2.5225;FS=1.357;MLEAC=4;MLEAF=0.286;MQ=57.57;MQRankSum=-14.36;QD=7.04;ReadPosRankSum=-0.862;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	3	0	4	0
chr19	54808875	54808875	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.T698C:p.F233S,KIR2DL4:NM_001080772:exon5:c.T698C:p.F233S	.	419	767	335	1	0	337	0.180118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000447511138945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465997687	1.376e-06	1.368e-06	1.37e-06	1.382e-06	6.075e-05	2.3e-07	9e-08	1.006e-05	3.76e-06	6.075e-05	0	0	0	0	0	0	0	0	1.993e-05	1.974e-05	1.297e-05	2.724e-05	7.415e-05	5.3e-06	2.47e-06	1.966e-05	1.045e-05	7.415e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.506	0.10967	T	0.0	0.07471	B	0.002	0.06944	B	0.491149	0.05037	U	1.930170	1	0.08975	N	-1.515	0.00494	N	7.25	0.00433	T	2.25	0.00307	N	0.14	0.13911	-0.9819	0.34561	T	0.000	0.00152	T	10	0.028942287	0.01023	T	4.48E-4	0.00107	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.02708054647761313	0.02658	2.35642927456	0.96844	.	.	.	.	.	.	-0.409861	0.01992	T	-0.826513	0.01325	T	0.0655447216952588	0.08011	T	.	.	.	.	.	.	.	.	.	.	.	-0.475	0.00568	T	.	.	0.070	0.03887	B	.;.;.;.	.;.;.;.	-0.295392	0.02636	0.333	0.47455017389395787	0.03881	0.00276	0.01495	N	AEFBCI	0.026542	0.02011	N	-2.02046759288525	0.00191	0.008189703	-2.03483107511558	0.00258	0.01138985	2.16622587642089E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-2.798000	0.00832	.	.	-2.007000	0.00444	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.4355:0.0:0.5645	3.991	0.09026	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001862	0.000000	0.000000	0.000000	0.000000	0.000000	0.010989	0.000000	0.2857	12587.1	309	chr19	54808875	.	T	C	12587.1	.	AC=4;AF=0.286;AN=14;BaseQRankSum=2.63;DP=1789;ExcessHet=2.5225;FS=0;MLEAC=4;MLEAF=0.286;MQ=57.86;MQRankSum=-13.9;QD=7.55;ReadPosRankSum=-2.419;SOR=0.713	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	3	0	4	0
chr19	54818334	54818334	C	G	exonic	KIR3DL1;KIR3DS1;LOC112268355	.	nonsynonymous SNV	KIR3DS1:NM_001083539:exon3:c.C90G:p.F30L,KIR3DL1:NM_001322168:exon3:c.C90G:p.F30L,LOC112268355:NM_001368254:exon3:c.C90G:p.F30L,KIR3DL1:NM_013289:exon3:c.C90G:p.F30L	.	409	980	132	1	0	134	0.0639924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.000726772846973	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs796737833	0	9.579e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	2.072e-05	5.952e-05	1.345e-05	2.84e-05	5.367e-05	5.51e-06	2.53e-06	8.89e-06	3.33e-06	5.367e-05	0	0	0	0	0	0	1.494e-05	0	0	0.019	0.51248	D	0.179	0.31936	T	0.016	0.17332	B	0.005	0.11217	B	0.606702	0.10905	U	0.694506	1	0.08975	N	1.005	0.25186	L	2.74	0.11730	T	-1.84	0.43149	N	0.038	0.01203	-1.0448	0.15884	T	0.064	0.26597	T	10	0.17020887	0.31671	T	7.27E-4	0.00491	T	0.038	0.09825	0.41	0.44559	0.190952846119	0.18690	0.1368163841598621	0.13605	0.463344262132	0.45844	.	.	.	0.011996	0.10618	T	-0.309569	0.07786	T	-0.682451	0.06835	T	0.523284256458282	0.33486	D	.	.	.	0.40859932	0.61323	0.20662923	0.44885	0.40859932	0.61324	0.20662923	0.44884	-7.3	0.56196	T	.	.	0.630	0.70117	P	.;.	.;.	0.517664	0.08863	5.644	0.56971344393487089	0.05667	0.00654	0.02841	N	AEFDBI	0.053944	0.09766	N	-0.752497373158588	0.14565	0.7266309	-1.00589574152565	0.09655	0.4816217	1.42406525206038E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.41	-1.15	0.09211	0.012000	0.13184	.	.	-0.657000	0.04367	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3251:0.4432:0.0:0.2316	1.833	0.02945	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	48.63	65	chr19	54818334	.	C	G	48.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.641;DP=851;ExcessHet=0;FS=1.943;MLEAC=1;MLEAF=0.071;MQ=58.75;MQRankSum=-7.308;QD=0.88;ReadPosRankSum=2.31;SOR=0.301	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:145,0:145:99:.:.:0,120,1800:.	6	0	1	0
chr19	54830110	54830110	A	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.A1170T:p.E390D,KIR3DL1:NM_013289:exon9:c.A1170T:p.E390D	.	487	1018	4	13	0	30	0.0145208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00295037248364	.	0.000998403	7.89e-05	0.0002	0.0002	0	0	7.895e-05	0	0	0.0001921	5	26028	rs577254016	1.882e-05	0.0015	1.15e-05	2.624e-05	0.0001	1.309e-05	1.112e-05	4.711e-05	3.035e-05	3.065e-05	0.0001	0	2.641e-05	0	0	1.796e-05	0	0	8.649e-05	0.0010	6.973e-05	0.0001	0.0001	4.903e-05	3.833e-05	5.029e-05	3.246e-05	0.0001	0	0.0001	0	0	0.0001	0.0037	3.177e-05	0.0005	0	0.016	0.51853	D	0.452	0.18560	T	0.001	0.07471	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.485	0.37223	L	7.16	0.00448	T	-1.23	0.31981	N	0.044	0.02861	-0.9655	0.38112	T	0.002	0.00497	T	8	0.018143237	0.00392	T	0.00295	0.06280	T	0.025	0.05312	0.321	0.30064	0.233785782151	0.22967	0.08289795060291379	0.08224	0.208071757028	0.23278	.	.	.	0.005634	0.05080	T	-0.276028	0.11093	T	-0.634272	0.10092	T	0.0382154940498127	0.03370	T	.	.	.	0.20277482	0.42333	0.12719326	0.30622	0.20277482	0.42333	0.12719326	0.30622	-6.204	0.49228	T	.	.	0.108	0.27583	B	.;.;.	.;.;.	0.477189	0.08466	5.226	0.92327634821417748	0.21724	0.01652	0.05304	N	AEFBI	0.030493	0.03080	N	-0.939294173757901	0.09934	0.472429	-1.08733637988935	0.07949	0.388757	2.17517074619218E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.719	0.719	0.17362	0.965000	0.28916	.	.	0.280000	0.18617	0.001000	0.13787	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	237.23	74	chr19	54830110	.	A	T	237.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2;DP=498;ExcessHet=0;FS=33.246;MLEAC=1;MLEAF=0.083;MQ=58.46;MQRankSum=-10.47;QD=1.17;ReadPosRankSum=-2.289;SOR=3.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1342:.	5	0	1	1
chr19	54830166	54830166	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1226C:p.R409T,KIR3DL1:NM_013289:exon9:c.G1226C:p.R409T	.	489	977	43	13	0	69	0.0341078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00280289760826	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402897436	0	6.612e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.13e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.09	0.63226	T	0.404	0.21545	T	0.008	0.14655	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	2.205	0.62170	M	7.22	0.00442	T	-2.14	0.48523	N	0.155	0.19861	-0.9566	0.39807	T	0.001	0.00438	T	8	0.05749756	0.06613	T	0.002803	0.05840	T	0.014	0.01968	0.257	0.19845	0.0611884634855	0.05136	0.14103244144494176	0.14026	0.341241828603	0.36058	.	.	.	0.005761	0.05208	T	-0.327897	0.06272	T	-0.708778	0.05358	T	0.0654255235430696	0.07993	T	.	.	.	0.077683635	0.17647	0.09936527	0.23722	0.077683635	0.17647	0.09936527	0.23722	-8.799	0.66394	D	.	.	0.112	0.22573	B	.;.;.	.;.;.	-0.127859	0.03478	0.649	0.55859222650876794	0.05430	0.00622	0.02746	N	AEFBI	0.041929	0.06440	N	-1.14611797788255	0.05843	0.2674817	-1.32606166375958	0.04096	0.1925055	3.25109135686022E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.719	-1.44	0.08391	-0.857000	0.04394	.	.	0.254000	0.18348	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	3097.96	149	chr19	54830166	.	G	C	3097.96	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.882;DP=993;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=57.7;MQRankSum=-15.91;QD=4.08;ReadPosRankSum=0.554;SOR=0.652	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1342:.	3	0	3	1
chr19	54830177	54830177	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1237T:p.R413C,KIR3DL1:NM_013289:exon9:c.C1237T:p.R413C	.	487	975	47	13	0	73	0.036085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00205586965996	.	0.000199681	2.628e-05	0.0002	9.156e-05	0	0	0	0	0	3.84e-05	1	26028	rs573252093	1.446e-05	8.441e-05	1.723e-05	1.165e-05	0.0002	9.44e-06	7.68e-06	4.146e-05	2.416e-05	0.0001	9.576e-05	0	0	0	0.0002	7.555e-06	1.754e-05	2.641e-05	4.289e-05	0.0001	5.533e-05	2.959e-05	0.0002	1.84e-05	1.211e-05	6.588e-05	4.499e-05	0.0002	0	0	0	0	0	0	0	0	0	0.116	0.49117	T	0.123	0.35970	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.15	0.00445	T	-2.1	0.47852	N	0.103	0.14196	-0.9722	0.36734	T	0.001	0.00408	T	8	0.05926463	0.07096	T	0.002056	0.03748	T	0.019	0.03383	.	.	0.124217242631	0.12060	0.14280557230036842	0.14203	0.306309179821	0.32927	.	.	.	0.004918	0.04343	T	-0.530801	0.00380	T	-0.694259	0.06145	T	0.0218732288632759	0.00894	T	.	.	.	0.11626438	0.27425	0.10402554	0.24975	0.11626438	0.27425	0.10402554	0.24975	-8.101	0.62445	D	.	.	0.106	0.21541	B	.;.;.	.;.;.	1.217707	0.16111	12.33	0.46755602533799501	0.03769	0.01115	0.04074	N	AEFBI	0.054109	0.09809	N	-1.01848295800702	0.08221	0.384663	-1.15555151539374	0.06668	0.3217553	2.10729526415108E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	0.650000	0.24544	.	.	0.228000	0.18124	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	3104.05	149	chr19	54830177	.	C	T	3104.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.763;DP=1021;ExcessHet=1.1394;FS=0.732;MLEAC=3;MLEAF=0.25;MQ=57.73;MQRankSum=-16.53;QD=3.94;ReadPosRankSum=1.89;SOR=0.602	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1342:.	3	0	3	1
chr19	54830178	54830178	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1238C:p.R413P,KIR3DL1:NM_013289:exon9:c.G1238C:p.R413P	.	488	973	48	13	0	74	0.0366337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00338705456639	.	.	.	.	.	.	.	.	.	.	.	.	.	rs984592565	2.892e-06	0.0003	0	5.825e-06	1.321e-05	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	0	1.321e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.075	0.38407	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.215	0.09537	N	7.23	0.00430	T	-0.45	0.24676	N	0.05	0.04072	-0.9082	0.47073	T	0.001	0.00255	T	8	0.05937442	0.07126	T	0.003387	0.07603	T	0.016	0.02506	0.366	0.37361	0.0401082797425	0.02173	0.09140339593159023	0.09073	0.323214894628	0.34489	.	.	.	0.001071	0.00595	T	-0.371148	0.03536	T	-0.770905	0.02738	T	0.0905973222850487	0.11288	T	.	.	.	0.09353458	0.21971	0.14968953	0.35334	0.09353458	0.21970	0.14968953	0.35333	-5.275	0.49736	T	.	.	0.093	0.14797	B	.;.;.	.;.;.	-0.439146	0.02071	0.191	0.43628759508592302	0.03298	0.00008	0.00134	N	AEFBI	0.019406	0.00671	N	-1.59627941012569	0.01283	0.05585422	-1.71860603525739	0.01058	0.04746591	9.63160874456533E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.14	0.09241	-0.491000	0.06555	.	.	-0.821000	0.02958	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	3146.05	149	chr19	54830178	.	G	C	3146.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.047;DP=1022;ExcessHet=1.1394;FS=0.732;MLEAC=3;MLEAF=0.25;MQ=57.7;MQRankSum=-16.56;QD=3.99;ReadPosRankSum=2.09;SOR=0.62	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1342:.	3	0	3	1
chr19	54830217	54830217	T	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1277C:p.I426T,KIR3DL1:NM_013289:exon9:c.T1277C:p.I426T	.	490	959	60	13	0	86	0.0429142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00252436282351	.	.	.	.	.	.	.	.	.	.	.	.	.	rs199822561	1.447e-06	6.26e-05	1.437e-06	1.458e-06	1.89e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.89e-06	0	0	0	8.482e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.053	0.38863	T	0.707	0.18732	T	0.001	0.07471	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.51	0.38214	L	7.01	0.00465	T	1.33	0.01107	N	0.136	0.15469	-0.9482	0.41279	T	0.001	0.00378	T	8	0.053025752	0.05429	T	0.002524	0.05037	T	0.031	0.07369	0.329	0.31357	0.0138822411134	0.00435	0.05436384389562955	0.05378	0.2842650222	0.30852	.	.	.	0.00346	0.02869	T	-0.377913	0.03211	T	-0.780622	0.02435	T	0.109476455881908	0.13368	T	.	.	.	0.060243543	0.12340	0.12511967	0.30151	0.060243543	0.12340	0.12511967	0.30150	-2.004	0.06104	T	.	.	0.127	0.34160	B	.;.;.	.;.;.	-0.422644	0.02129	0.203	0.1578796069653349	0.00399	0.00213	0.01210	N	AEFBI	0.035053	0.04446	N	-1.5374920893244	0.01609	0.07032718	-1.65054767699224	0.01373	0.06202174	1.82473746354949E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-0.727	0.10603	-0.855000	0.04403	.	.	-2.187000	0.00360	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	3260.05	149	chr19	54830217	.	T	C	3260.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.548;DP=1015;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=57.62;MQRankSum=-16.68;QD=4.17;ReadPosRankSum=4.32;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1342:.	3	0	3	1
chr19	54830219	54830219	T	A	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1279A:p.L427M,KIR3DL1:NM_013289:exon9:c.T1279A:p.L427M	.	490	958	61	13	0	87	0.0434348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00220836784564	.	.	1.752e-05	0	0	0	0	3.156e-05	0	0	1.29e-05	2	154602	rs200821495	2.17e-06	0.0009	0	4.372e-06	9.449e-07	5.8e-07	1.6e-07	.	.	0	0	0	0	0	0	9.449e-07	3.512e-05	0	7.376e-06	0.0005	1.429e-05	0	1.625e-05	0	0	.	.	0	0	0	0	0	0	0	1.625e-05	0	0	0.036	0.43708	D	0.044	0.49942	D	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	7.15	0.00440	T	0.02	0.07155	N	0.097	0.09066	-0.9488	0.41177	T	0.001	0.00255	T	8	0.059903473	0.07273	T	0.002208	0.04178	T	0.033	0.08068	0.343	0.33626	0.0611884634855	0.05136	0.06365489919836881	0.06304	0.217370059748	0.24259	.	.	.	0.001032	0.00564	T	-0.359885	0.04136	T	-0.754727	0.03305	T	0.0475029693969738	0.05054	T	.	.	.	0.12672478	0.29674	0.09114859	0.21413	0.12672478	0.29673	0.09114859	0.21413	-2.726	0.11147	T	.	.	0.087	0.11027	B	.;.;.	.;.;.	-0.079285	0.03768	0.787	0.57251924956472933	0.05728	0.00098	0.00638	N	AEFBI	0.020111	0.00761	N	-1.48858900803104	0.01930	0.08470691	-1.56128690325375	0.01899	0.08661785	1.77709840166136E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	-0.346000	0.07809	.	.	-2.056000	0.00415	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	3269.05	149	chr19	54830219	.	T	A	3269.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.616;DP=1013;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=57.62;MQRankSum=-16.78;QD=4.2;ReadPosRankSum=3.98;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1342:.	3	0	3	1
chr19	54830226	54830226	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1286T:p.T429M,KIR3DL1:NM_013289:exon9:c.C1286T:p.T429M	.	491	956	62	13	0	88	0.044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00266394809513	7.9e-05	.	4.38e-05	0.0004	0	0	0	1.578e-05	0	0	7.12e-05	11	154602	rs72629105	2.892e-06	0.0008	1.435e-06	4.369e-06	2.833e-06	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	1.754e-05	0	2.894e-05	0.0005	4.202e-05	1.496e-05	7.701e-05	9.76e-06	5.56e-06	2.041e-05	1.066e-05	7.701e-05	0	0	0	0	0	0	1.605e-05	0	0	0.054	0.52492	T	0.299	0.22359	T	0.122	0.26746	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	0.95	0.23787	L	7.16	0.00445	T	0.53	0.04022	N	0.061	0.03726	-0.9699	0.37220	T	0.001	0.00287	T	8	0.04146093	0.02803	T	0.002664	0.05434	T	0.003	0.00094	.	.	0.0482279557977	0.04254	0.1972985884992638	0.19646	0.240531653146	0.26595	.	.	.	0.001518	0.00960	T	-0.551009	0.00288	T	-0.749827	0.03492	T	0.0218708623688418	0.00894	T	.	.	.	0.024346609	0.01257	0.069218	0.14554	0.024346609	0.01257	0.069218	0.14554	-2.712	0.13893	T	.	.	0.079	0.09385	B	.;.;.	.;.;.	-0.578230	0.01633	0.113	0.60277366403116528	0.06425	0.00031	0.00285	N	AEFBI	0.021009	0.00889	N	-1.21141140468678	0.04833	0.218967	-1.35673268790221	0.03727	0.1744511	2.06319095939035E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.01	0.09650	-1.643000	0.02106	.	.	-2.138000	0.00378	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	3182.05	149	chr19	54830226	.	C	T	3182.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.055;DP=1015;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=57.66;MQRankSum=-16.75;QD=4.1;ReadPosRankSum=2.84;SOR=0.652	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1342:.	3	0	3	1
chr19	54830253	54830253	C	-	exonic	KIR3DL1	.	frameshift deletion	KIR3DL1:NM_001322168:exon9:c.1313delC:p.S438Ffs*6,KIR3DL1:NM_013289:exon9:c.1313delC:p.S438Ffs*6	.	484	969	56	13	0	82	0.0405941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.228e-07	4.922e-05	0	1.456e-06	9.442e-07	0	0	.	.	0	0	0	0	0	0	9.442e-07	0	0	0	4.801e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2831.68	149	chr19	54830252	.	TC	T	2831.68	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-2.8;DP=951;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=57.76;MQRankSum=-16.38;QD=3.97;ReadPosRankSum=-2.248;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1342:.	4	0	3	0
chr19	54830256	54830258	AAG	-	exonic	KIR3DL1	.	nonframeshift deletion	KIR3DL1:NM_001322168:exon9:c.1316_1318del:p.C439_T445delinsFLPISTTVRP*,KIR3DL1:NM_013289:exon9:c.1316_1318del:p.C439_T445delinsFLPISTTVRP*	.	491	962	56	13	0	82	0.0408774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.446e-06	4.922e-05	1.435e-06	1.456e-06	1.888e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.888e-06	0	0	0	4.808e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2798.01	149	chr19	54830255	.	AAAG	A	2798.01	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.896;DP=947;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=57.79;MQRankSum=-16.41;QD=3.94;ReadPosRankSum=-2.077;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1342:.	3	0	3	1
chr19	54835088	54835088	T	G	exonic	KIR2DS4	.	nonsynonymous SNV	KIR2DS4:NM_001281971:exon2:c.T44G:p.L15W,KIR2DS4:NM_001281972:exon2:c.T44G:p.L15W	.	436	1020	60	6	0	72	0.0340909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	.	0.0015	0.0006	0.0005	0.0002	0.0020	0.0021	0.0035	0.0009	0.0008452	22	26028	rs200101952	0.0004	0.0030	0.0003	0.0005	0.0017	0.0003	0.0003	0.0014	0.0013	9.206e-05	0.0007	0.0004	0.0004	0.0011	0.0002	0.0002	0.0002	0.0017	0.0004	0.0042	0.0004	0.0004	0.0008	0.0003	0.0003	0.0004	0.0003	0.0002	0	0.0002	0.0006	0.0002	0.0006	0	0.0005	0.0021	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013975	0.015464	0.017857	0.020958	0.000000	0.026786	0.016234	0.012097	0.07143	87.46	82	chr19	54835088	.	T	G	87.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.255;DP=435;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.64;MQRankSum=-6.863;QD=1.48;ReadPosRankSum=-2.248;SOR=0.522	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr19	54847203	54847203	T	0	exonic	KIR2DS1;KIR2DS2;KIR2DS3;KIR2DS4;KIR2DS5;KIR3DS1;LOC102725023;LOC112268355	.	.	.	.	377	455	672	5	13	695	0.428392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	5890.45	371	chr19	54847203	.	T	*	5890.45	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.441;DP=2058;ExcessHet=3.6764;FS=2.419;MLEAC=3;MLEAF=0.214;MQ=59.3;MQRankSum=-3.065;QD=2.96;ReadPosRankSum=0.299;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1350:.	4	0	3	0
chr19	54847204	54847204	G	0	exonic	KIR2DS1;KIR2DS2;KIR2DS3;KIR2DS4;KIR2DS5;KIR3DS1;LOC102725023;LOC112268355	.	.	.	.	370	1128	13	0	11	24	0.0057294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	95.23	371	chr19	54847204	.	G	*	95.23	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.998;DP=2017;ExcessHet=0.3476;FS=0.516;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.32;ReadPosRankSum=1.19;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1350:.	3	0	1	3
chr19	54855625	54855625	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A662T:p.Y221F,KIR3DL2:NM_006737:exon5:c.A662T:p.Y221F	.	417	757	348	0	0	348	0.186896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000464580640836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs953284565	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.297	0.22084	T	0.998	0.73220	D	0.957	0.69900	D	0.987012	0.08056	U	0.989616	1	0.08975	N	1.825	0.47900	L	5.76	0.00695	T	-2.9	0.60827	D	0.098	0.12770	-0.9144	0.46298	T	0.007	0.02518	T	10	0.1624504	0.30445	T	4.65E-4	0.00116	T	0.019	0.03383	0.518	0.61915	0.336892272479	0.33291	0.018868245159557127	0.01840	1.60845377238	0.88855	0.403694212437	0.25583	T	0.067962	0.33336	T	-0.305796	0.08124	T	-0.677031	0.07167	T	0.537836849689484	0.34024	D	.	.	.	0.19793491	0.41677	0.16741675	0.38624	0.19793491	0.41677	0.16741675	0.38624	-6.639	0.51350	T	.	.	0.148	0.32589	B	.;.	.;.	0.893731	0.12673	9.197	0.95973909104232413	0.28337	0.00299	0.01594	N	AEFBI	0.032299	0.03618	N	-0.732235372597301	0.15120	0.7592366	-0.957408281364291	0.10751	0.5435199	1.67992491567851E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-0.254	0.12350	-0.950000	0.03999	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5937:0.4063:0.0:0.0	3.712	0.07954	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	6949.34	221	chr19	54855625	.	A	T	6949.34	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.929;DP=1073;ExcessHet=4.7409;FS=7.737;MLEAC=4;MLEAF=0.286;MQ=56.93;MQRankSum=-11.32;QD=7.22;ReadPosRankSum=1.77;SOR=0.66	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,1345:.	2	0	5	0
chr19	54855628	54855628	A	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A665G:p.E222G,KIR3DL2:NM_006737:exon5:c.A665G:p.E222G	.	417	765	340	0	0	340	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0011106169865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985925024	6.844e-07	2.052e-06	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.118	0.28148	T	0.271	0.22291	T	0.999	0.77913	D	0.99	0.78936	D	0.407241	0.04570	U	1.688890	1	0.08975	N	0.38	0.12130	N	5.81	0.00662	T	-1.77	0.41809	N	0.087	0.10769	-0.8640	0.50973	T	0.005	0.01833	T	10	0.0910846	0.15926	T	0.001111	0.01336	T	0.018	0.03083	0.409	0.44395	0.184867976434	0.18130	0.04741152337579393	0.04684	1.9288275753	0.93111	0.312949419022	0.12353	T	0.061579	0.31691	T	-0.358922	0.04191	T	-0.753343	0.03358	T	0.0479596368968487	0.05137	T	.	.	.	0.038775276	0.05231	0.055304885	0.09676	0.038775276	0.05230	0.055304885	0.09675	-4.68	0.36840	T	.	.	0.068	0.03552	B	.;.	.;.	0.681116	0.10498	7.211	0.93748499984386979	0.23687	0.00095	0.00623	N	AEFBI	0.022196	0.01079	N	-0.906883655702748	0.10679	0.5115434	-1.03393035090106	0.09045	0.4478514	2.60640366773723E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	-0.810000	0.04612	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	4.242	0.10106	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	6738.04	224	chr19	54855628	.	A	G	6738.04	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.16;DP=1085;ExcessHet=2.5225;FS=9.283;MLEAC=4;MLEAF=0.286;MQ=57.09;MQRankSum=-11.7;QD=6.94;ReadPosRankSum=1.65;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,1345:.	3	0	4	0
chr19	54855667	54855668	AG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_001242867:exon5:c.704_705del:p.Q235Rfs*10,KIR3DL2:NM_006737:exon5:c.704_705del:p.Q235Rfs*10	.	415	977	130	0	0	130	0.06238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2402.69	212	chr19	54855666	.	CAG	C	2402.69	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.283;DP=875;ExcessHet=1.1394;FS=16.108;MLEAC=3;MLEAF=0.214;MQ=57.38;MQRankSum=-11.45;QD=3.59;ReadPosRankSum=-1.126;SOR=1.557	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,1345:.	4	0	3	0
chr19	54855669	54855669	-	CA	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_001242867:exon5:c.706_707insCA:p.G237Qfs*5,KIR3DL2:NM_006737:exon5:c.706_707insCA:p.G237Qfs*5	.	418	973	131	0	0	131	0.0630717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2411.69	212	chr19	54855669	.	G	GCA	2411.69	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.555;DP=844;ExcessHet=1.1394;FS=17.888;MLEAC=3;MLEAF=0.214;MQ=57.64;MQRankSum=-13.41;QD=3.62;ReadPosRankSum=-1.826;SOR=1.61	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,1345:.	4	0	3	0
chr19	54855702	54855702	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.T739A:p.W247R,KIR3DL2:NM_006737:exon5:c.T739A:p.W247R	.	418	1096	7	0	1	8	0.00318327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.000513965063079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.844e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.23	0.25827	T	0.0	0.02946	B	0.002	0.06944	B	0.007305	0.01163	N	6.284920	1	0.08975	N	-0.905	0.01334	N	4.12	0.02891	T	2.77	0.00192	N	0.074	0.05287	-0.9554	0.40024	T	0.004	0.01159	T	10	0.0278669	0.00925	T	5.14E-4	0.00163	T	0.006	0.00375	0.383	0.40134	0.148003135375	0.14442	0.03313264070354783	0.03261	2.56269628182	0.97972	0.291219711304	0.09100	T	0.013561	0.11709	T	-0.45857	0.01003	T	-0.896481	0.00528	T	0.0652051243997332	0.07961	T	.	.	.	0.038792573	0.05237	0.03620834	0.03021	0.038792573	0.05237	0.03620834	0.03021	-1.24	0.01520	T	.	.	0.056	0.00444	B	.;.	.;.	-1.017771	0.00746	0.023	0.28703814929394555	0.01487	0.00064	0.00463	N	AEFBI	0.018163	0.00530	N	-2.08547964821295	0.00138	0.005896707	-2.12188863542438	0.00167	0.007337207	3.705165035272E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-1.99	0.07047	-2.672000	0.00915	.	.	-3.099000	0.00124	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4704:0.3018:0.2278	4.218	0.09998	982	0.03397	Immunoglobulin|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	84.24	39	chr19	54855702	.	T	A	84.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.78;DP=628;ExcessHet=0.3476;FS=39.255;MLEAC=2;MLEAF=0.143;MQ=58.45;MQRankSum=-11.07;QD=0.2;ReadPosRankSum=-3.308;SOR=4.23	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,1345:.	5	0	2	0
chr19	54859084	54859084	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.C955T:p.P319S	.	416	1029	76	1	0	78	0.0365169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000624441967726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.026e-05	1.231e-05	4.085e-06	1.651e-05	1.259e-05	6.16e-06	4.89e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	1.656e-05	0	6.572e-06	2.625e-05	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.089	0.32141	T	0.425	0.13912	T	0.886	0.48745	P	0.383	0.43945	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	7.02	0.00454	T	-2.97	0.61865	D	0.064	0.03613	-0.8674	0.50724	T	0.001	0.00467	T	9	0.09483707	0.16894	T	6.24E-4	0.00303	T	0.064	0.18567	0.248	0.18447	0.117506650769	0.11410	0.04836548424617068	0.04779	1.71135710155	0.90445	0.356161952019	0.18825	T	0.059672	0.31178	T	-0.393334	0.02559	T	-0.802774	0.01834	T	0.34234310394307	0.26717	T	.	.	.	0.039089512	0.05330	0.078269705	0.17516	0.039089512	0.05330	0.078269705	0.17516	-2.822	0.08388	T	.	.	0.088	0.11606	B	.	.	0.788312	0.11583	8.178	0.84617625941685071	0.15397	0.00022	0.00232	N	AEFGBI	0.014378	0.00226	N	-0.746472741392689	0.14729	0.7361992	-0.985325967743381	0.10114	0.5073769	0.00905559668788433	0.11788	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-0.604	0.11043	-0.027000	0.12319	.	.	-0.464000	0.05108	0.037000	0.20830	0.000000	0.08366	0.012000	0.09680	0.0:0.3552:0.0:0.6448	2.974	0.05570	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	2045.72	305	chr19	54859084	.	C	T	2045.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.416;DP=1054;ExcessHet=1.1394;FS=0.839;MLEAC=3;MLEAF=0.214;MQ=44.48;MQRankSum=-6.839;QD=2.27;ReadPosRankSum=-1.443;SOR=0.794	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	4	0	3	0
chr19	54859097	54859098	GG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_006737:exon6:c.968_969del:p.W323Sfs*62	.	418	1027	76	1	0	78	0.0365854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2008.68	307	chr19	54859096	.	TGG	T	2008.68	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.186;DP=1064;ExcessHet=1.1394;FS=1.826;MLEAC=3;MLEAF=0.214;MQ=43.56;MQRankSum=-5.98;QD=2.2;ReadPosRankSum=1.01;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	4	0	3	0
chr19	54859099	54859099	-	AT	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_006737:exon6:c.970_971insAT:p.P324Hfs*20	.	419	1023	79	1	0	81	0.0380818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2008.68	307	chr19	54859099	.	C	CAT	2008.68	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.502;DP=1063;ExcessHet=1.1394;FS=1.826;MLEAC=3;MLEAF=0.214;MQ=43.38;MQRankSum=-5.98;QD=2.2;ReadPosRankSum=1.2;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	4	0	3	0
chr19	54859126	54859126	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.T997A:p.S333T	.	422	1024	75	1	0	77	0.0362353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.000592853644405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.969e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.952	0.02603	T	0.002	0.09854	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.145	0.00921	N	7.11	0.00444	T	1.51	0.00728	N	0.047	0.01911	-0.9540	0.40274	T	0.000	0.00114	T	9	0.020475209	0.00472	T	5.93E-4	0.00260	T	0.058	0.16647	0.251	0.18912	0.0482279557977	0.04254	0.03848246725599166	0.03794	1.5778815892	0.88350	0.446997404099	0.31534	T	0.001513	0.00960	T	-0.446873	0.01178	T	-0.879678	0.00656	T	0.0579299394948747	0.06839	T	.	.	.	0.035080478	0.04062	0.03344365	0.02239	0.035080478	0.04062	0.03344365	0.02239	-2.536	0.06032	T	.	.	0.060	0.00949	B	.	.	-0.849207	0.01014	0.042	0.38981453092339813	0.02662	0.00032	0.00291	N	AEFGBI	0.016009	0.00335	N	-2.17322769998613	0.00088	0.003762631	-2.19645317612939	0.00114	0.005011955	0.249042233931105	0.18659	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-1.7	0.07721	-2.450000	0.01084	.	.	-2.250000	0.00337	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2879:0.2416:0.223:0.2475	0.066	0.00016	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	1930.72	277	chr19	54859126	.	T	A	1930.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.72;DP=979;ExcessHet=1.1394;FS=2.94;MLEAC=3;MLEAF=0.214;MQ=42.6;MQRankSum=-4.935;QD=2.36;ReadPosRankSum=4.2;SOR=0.532	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	4	0	3	0
chr19	54865810	54865810	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T955C:p.C319R,KIR3DL2:NM_006737:exon7:c.T1006C:p.C336R	.	403	855	264	0	0	264	0.133739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00110318286967	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs796466301	7.457e-05	0.0011	7.798e-05	7.115e-05	0.0002	6.259e-05	5.845e-05	9.469e-05	7.503e-05	0.0001	0.0002	0.0002	5.078e-05	0	0	6.593e-05	3.482e-05	0.0002	0	3.285e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.134	0.26300	T	0.451	0.12920	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	-1.04	0.01097	N	7.31	0.00423	T	0.16	0.05217	N	0.083	0.10769	-0.9760	0.35904	T	0.001	0.00188	T	8	0.04906112	0.04441	T	0.001103	0.01312	T	0.009	0.00846	0.442	0.49811	0.119812018005	0.11559	0.09452283820028774	0.09384	2.56269628182	0.97972	0.333641290665	0.15483	T	7.89E-4	0.00376	T	-0.415095	0.01840	T	-0.834032	0.01193	T	0.059155964491615	0.07034	T	.	.	.	0.106677674	0.25223	0.1821225	0.41119	0.106677674	0.25223	0.1821225	0.41119	1.528	0.00757	T	.	.	0.054	0.02639	B	.;.	.;.	-0.404554	0.02196	0.218	0.45649119719455972	0.03599	0.00039	0.00329	N	AEFBI	0.015175	0.00277	N	-1.72878488187199	0.00744	0.03215037	-1.79035493063549	0.00791	0.03527497	4.27305037267331E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.609	-0.763	0.10475	-1.665000	0.02067	.	.	-1.747000	0.00693	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	11033.2	173	chr19	54865810	.	T	C	11033.2	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.498;DP=897;ExcessHet=2.5225;FS=3.367;MLEAC=4;MLEAF=0.333;MQ=57.82;MQRankSum=-8.299;QD=13.54;ReadPosRankSum=1.77;SOR=0.478	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1370:.	2	0	4	1
chr19	54865825	54865825	G	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G970A:p.V324I,KIR3DL2:NM_006737:exon7:c.G1021A:p.V341I	.	402	857	263	0	0	263	0.13303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00055253107299	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796782943	6.843e-07	1.368e-06	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.164	0.24468	T	0.419	0.14158	T	0.002	0.09854	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	1.11	0.28643	L	7.18	0.00448	T	-0.21	0.10656	N	0.072	0.04547	-0.9746	0.36213	T	0.001	0.00348	T	9	0.07256496	0.10849	T	5.53E-4	0.00208	T	0.008	0.00669	0.367	0.37524	0.241078983079	0.23725	0.04157770004610267	0.04102	0.0027843863192	0.00238	0.408555775881	0.26256	T	0.002608	0.01994	T	-0.428714	0.01509	T	-0.853595	0.00915	T	0.0821466851244207	0.10259	T	.	.	.	0.022919703	0.00990	0.029417474	0.01278	0.022919703	0.00989	0.029417474	0.01278	-3.748	0.20029	T	.	.	0.070	0.08033	B	.;.	.;.	-1.320914	0.00420	0.008	0.32275471755800766	0.01862	0.00127	0.00790	N	AEFBI	0.021088	0.00901	N	-1.46961496636215	0.02067	0.09089394	-1.60118741659373	0.01648	0.07480784	3.08807583727834E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.835000	0.04494	.	.	-0.482000	0.05067	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5465:0.0:0.4535:0.0	3.986	0.09005	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	10790.2	177	chr19	54865825	.	G	A	10790.2	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.734;DP=920;ExcessHet=2.5225;FS=2.565;MLEAC=4;MLEAF=0.333;MQ=57.94;MQRankSum=-8.33;QD=12.91;ReadPosRankSum=1.81;SOR=0.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1370:.	2	0	4	1
chr19	54865847	54865847	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T992C:p.V331A,KIR3DL2:NM_006737:exon7:c.T1043C:p.V348A	.	401	853	268	0	0	268	0.135765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.000400803919065	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224475740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.29823	T	0.986	0.02387	T	0.98	0.59353	D	0.966	0.71341	D	0.029014	0.01695	N	4.101880	1	0.08975	N	0.395	0.12235	N	7.27	0.00437	T	-0.92	0.24676	N	0.126	0.11912	-0.9172	0.45931	T	0.002	0.00585	T	10	0.07284033	0.10928	T	4.01E-4	0.00071	T	0.065	0.18881	0.494	0.58206	0.0297737177859	0.01360	0.06284081072503588	0.06223	0.00213134346531	0.00180	0.403696119785	0.25583	T	0.001044	0.00572	T	-0.400058	0.02313	T	-0.812432	0.01611	T	0.139050558209419	0.16193	T	.	.	.	0.031689838	0.03054	0.03537673	0.02778	0.031689838	0.03053	0.03537673	0.02778	-6.306	0.48770	T	.	.	0.101	0.17488	B	.;.	.;.	0.454312	0.08244	4.984	0.26484307624393894	0.01271	0.00052	0.00397	N	AEFBI	0.015930	0.00328	N	-1.33586624352162	0.03274	0.1459584	-1.54872497766398	0.01985	0.0906649	1.28470643324931E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.401000	0.07293	.	.	-0.458000	0.05121	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.0:0.5995:0.0:0.4005	5.878	0.18089	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	10604.2	181	chr19	54865847	.	T	C	10604.2	.	AC=4;AF=0.333;AN=12;BaseQRankSum=3.01;DP=935;ExcessHet=2.5225;FS=2.595;MLEAC=4;MLEAF=0.333;MQ=57.92;MQRankSum=-8.505;QD=12.43;ReadPosRankSum=1.13;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1370:.	2	0	4	1
chr19	54865852	54865852	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T997A:p.F333I,KIR3DL2:NM_006737:exon7:c.T1048A:p.F350I	.	399	856	267	0	0	267	0.134917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000552976428505	.	.	8.242e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs2915986	3.52e-06	3.467e-06	4.204e-06	2.829e-06	3.699e-06	1.03e-06	7.5e-07	8.7e-07	5.8e-07	0	0	0	0	0	0	3.699e-06	1.7e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.520826	0.11743	N	0.610798	1	0.08975	N	-2.095	0.00157	N	7.34	0.00418	T	2.41	0.00335	N	0.177	0.19055	-0.9514	0.40730	T	0.000	0.00075	T	10	0.028288513	0.00963	T	5.53E-4	0.00208	T	0.025	0.05312	0.361	0.36548	0.0401082797425	0.02173	0.037563278247634765	0.03702	0.00194719441549	0.00165	0.439581662416	0.30520	T	0.002307	0.01700	T	-0.359524	0.04156	T	-0.754208	0.03325	T	0.102266789170519	0.12604	T	.	.	.	0.029341966	0.02414	0.027775709	0.00957	0.029341966	0.02413	0.027775709	0.00957	1.774	0.00144	T	.	.	0.031	0.00001	B	.;.	.;.	-1.192069	0.00539	0.013	0.21394745277116367	0.00813	0.00027	0.00265	N	AEFBI	0.015044	0.00268	N	-2.17185589876208	0.00089	0.003788383	-2.12745077528888	0.00162	0.00713515	4.11374997373906E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.556	0.11213	-3.473000	0.00511	.	.	-1.423000	0.01123	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3789:0.3119:0.0:0.3092	1.833	0.02945	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	10760.2	184	chr19	54865852	.	T	A	10760.2	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.709;DP=942;ExcessHet=2.5225;FS=1.848;MLEAC=4;MLEAF=0.333;MQ=57.93;MQRankSum=-8.551;QD=12.5;ReadPosRankSum=0.389;SOR=0.847	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1370:.	2	0	4	1
chr19	54865864	54865864	C	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1009A:p.L337I,KIR3DL2:NM_006737:exon7:c.C1060A:p.L354I	.	400	855	267	0	0	267	0.135053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000772956067362	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296399738	8.417e-06	0.0011	1.256e-05	4.23e-06	7.065e-05	4.49e-06	3.55e-06	1.874e-05	1.019e-05	0	7.065e-05	0	0	1.911e-05	0	3.683e-06	0	4.841e-05	0	2.628e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.509	0.07521	T	1.0	0.01155	T	0.01	0.15535	B	0.009	0.14300	B	0.025651	0.01634	N	972.142000	1	0.08975	N	-0.22	0.03977	N	6.79	0.00488	T	1.13	0.01297	N	0.193	0.21188	-0.8671	0.50746	T	0.001	0.00287	T	10	0.037043363	0.02035	T	7.73E-4	0.00568	T	0.013	0.01715	0.474	0.55020	0.0551355673512	0.04727	0.03483597995631442	0.03430	0.00231030591297	0.00198	0.440028011799	0.30580	T	0.003421	0.02829	T	-0.38056	0.03091	T	-0.784425	0.02323	T	0.24141052365303	0.22484	T	.	.	.	0.02956708	0.02474	0.027299805	0.00872	0.02956708	0.02473	0.027299805	0.00872	-2.832	0.08482	T	.	.	0.067	0.02428	B	.;.	.;.	-1.733188	0.00181	0.003	0.39800349715696198	0.02769	0.00031	0.00285	N	AEFBI	0.015044	0.00268	N	-2.51786959481438	0.00014	0.0006260781	-2.5670260733213	0.00016	0.0007120855	0.00421926217040744	0.10461	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.756	-1.51	0.08207	-0.986000	0.03857	.	.	-4.822000	0.00020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4531:0.5469:0.0:0.0	6.404	0.20859	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	10694.2	180	chr19	54865864	.	C	A	10694.2	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.957;DP=920;ExcessHet=2.5225;FS=1.162;MLEAC=4;MLEAF=0.333;MQ=57.99;MQRankSum=-7.626;QD=12.76;ReadPosRankSum=-0.519;SOR=0.831	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1370:.	2	0	4	1
chr19	54865870	54865870	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1015T:p.L339F,KIR3DL2:NM_006737:exon7:c.C1066T:p.L356F	.	404	855	263	0	0	263	0.1333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000653011748056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338748485	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.05152	T	0.137	0.33894	T	0.999	0.77913	D	0.993	0.81110	D	0.959071	0.07705	U	1.034180	1	0.08975	N	1.67	0.42885	L	6.68	0.00576	T	-0.57	0.19297	N	0.144	0.15888	-0.9404	0.42552	T	0.004	0.01470	T	10	0.067382395	0.09379	T	6.53E-4	0.00350	T	0.046	0.12618	0.447	0.50629	0.0482279557977	0.04254	0.03706772757247262	0.03653	0.00235242544378	0.00204	0.419023424387	0.27702	T	0.010928	0.09812	T	-0.282597	0.10395	T	-0.643707	0.09401	T	0.149730133327665	0.17082	T	.	.	.	0.029493352	0.02453	0.034858517	0.02630	0.029493352	0.02453	0.034858517	0.02630	-4.814	0.34754	T	.	.	0.092	0.13362	B	.;.	.;.	0.692112	0.10608	7.311	0.86832300325457512	0.16803	0.00214	0.01215	N	AEFBI	0.025492	0.01754	N	-1.08763022436649	0.06870	0.3175028	-1.36423289139558	0.03641	0.1702588	3.46547822766471E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.403000	0.07275	.	.	-0.690000	0.04136	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.414:0.3227:0.2634	2.405	0.04140	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	10341.2	176	chr19	54865870	.	C	T	10341.2	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.96;DP=901;ExcessHet=2.5225;FS=1.159;MLEAC=4;MLEAF=0.333;MQ=58.11;MQRankSum=-7.569;QD=12.6;ReadPosRankSum=-1.403;SOR=0.771	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1370:.	2	0	4	1
chr19	54865885	54865885	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T1030C:p.Y344H,KIR3DL2:NM_006737:exon7:c.T1081C:p.Y361H	.	413	843	266	0	0	266	0.13627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.000928668473944	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2915987	4.899e-06	0.0012	8.359e-06	1.406e-06	6.971e-05	2.04e-06	1.31e-06	1.849e-05	1.012e-05	0	6.971e-05	0	2.532e-05	0	0	1.838e-06	0	1.202e-05	6.588e-06	7.887e-05	0	1.349e-05	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.639	0.06992	T	0.001	0.07471	B	0.004	0.10090	B	0.000834	0.00693	N	964.490000	1	0.08975	N	-1.885	0.00247	N	7.23	0.00430	T	2.95	0.00151	N	0.108	0.11054	-0.9038	0.47583	T	0.000	0.00114	T	10	0.02607575	0.00783	T	9.29E-4	0.00911	T	0.052	0.14661	0.509	0.60540	0.0806252709748	0.07271	0.05856973815727529	0.05797	0.00203136714976	0.00170	0.461200088263	0.33475	T	0.002548	0.01934	T	-0.543293	0.00320	T	-0.842333	0.01064	T	0.055993546621464	0.06523	T	.	.	.	0.01972407	0.00509	0.030124722	0.01429	0.01972407	0.00508	0.030124722	0.01428	-0.36	0.01497	T	.	.	0.058	0.01810	B	.;.	.;.	-1.085193	0.00658	0.018	0.29891803236966757	0.01608	0.00013	0.00170	N	AEFBI	0.013335	0.00174	N	-2.32571740057804	0.00040	0.001704577	-2.25685884815932	0.00083	0.003659575	2.27817266838019E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.356	0.11957	-0.520000	0.06338	.	.	-3.331000	0.00095	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7076:0.0:0.2924	4.953	0.13373	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	8983.25	149	chr19	54865885	.	T	C	8983.25	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.89;DP=827;ExcessHet=3.1439;FS=1.174;MLEAC=4;MLEAF=0.333;MQ=57.96;MQRankSum=-7.578;QD=11.99;ReadPosRankSum=-1.451;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1370:.	2	0	4	1
chr19	54865888	54865888	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1033T:p.R345C,KIR3DL2:NM_006737:exon7:c.C1084T:p.R362C	.	413	854	255	0	0	255	0.129903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00070768877162	.	.	8.387e-06	0	0	0	0	1.53e-05	0	0	1.29e-05	2	154602	rs138402445	1.848e-05	1.847e-05	1.635e-05	2.064e-05	2.988e-05	1.266e-05	1.085e-05	1.461e-05	1.227e-05	2.988e-05	0	0	0	1.881e-05	0	2.159e-05	1.656e-05	0	6.58e-06	6.569e-06	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.049	0.50676	D	0.045	0.49390	D	0.998	0.73220	D	0.724	0.55036	P	0.003128	0.00941	U	719.913000	1	0.08975	N	2.18	0.61292	M	7.01	0.00466	T	-3.01	0.62518	D	0.177	0.25253	-0.9256	0.44772	T	0.005	0.01506	T	10	0.2351507	0.40570	T	7.08E-4	0.00454	T	0.076	0.22200	0.608	0.74063	0.377274123778	0.37341	0.04899285126321561	0.04842	0.00201032243671	0.00170	0.345741182566	0.17292	T	0.083108	0.36978	T	-0.280145	0.10652	T	-0.57654	0.14856	T	0.0767469108104706	0.09565	T	.	.	.	0.090401374	0.21151	0.072761305	0.15734	0.090401374	0.21151	0.072761305	0.15734	-5.468	0.41568	T	.	.	0.101	0.17488	B	.;.	.;.	1.700358	0.21659	15.29	0.78131642950480018	0.12168	0.00252	0.01388	N	AEFBI	0.036619	0.04908	N	-0.596483761697517	0.19051	0.9940639	-0.847282888163348	0.13353	0.6922374	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	-0.462000	0.06781	.	.	-0.557000	0.04870	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	8960.25	149	chr19	54865888	.	C	T	8960.25	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.33;DP=820;ExcessHet=3.1439;FS=0.558;MLEAC=4;MLEAF=0.333;MQ=57.94;MQRankSum=-7.578;QD=12.08;ReadPosRankSum=-1.934;SOR=0.79	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1370:.	2	0	4	1
chr19	54865893	54865893	G	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G1038C:p.W346C,KIR3DL2:NM_006737:exon7:c.G1089C:p.W363C	.	419	848	255	0	0	255	0.130702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.000545132984031	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs150217832	6.846e-07	6.84e-07	1.362e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.055	0.48080	T	0.999	0.77913	D	0.995	0.83170	D	0.004823	0.01046	U	6.630260	0.999999	0.08975	N	2.65	0.77586	M	7.12	0.00449	T	-8.3	0.96976	D	0.417	0.45709	-0.9378	0.42963	T	0.005	0.01578	T	10	0.46326482	0.59415	T	5.45E-4	0.00196	T	0.087	0.25287	0.69	0.82748	0.115124310173	0.11017	0.06623851051609898	0.06562	0.0020945074082	0.00176	0.531311154366	0.43219	T	0.117344	0.43737	T	-0.156731	0.27265	T	-0.46291	0.26281	T	0.919087171554565	0.57763	D	.	.	.	0.27311128	0.50379	0.25889528	0.51629	0.27311128	0.50379	0.25889528	0.51629	-5.179	0.48189	T	.	.	0.297	0.52760	B	.;.	.;.	1.876161	0.23830	16.17	0.96792341091729295	0.31116	0.02255	0.06527	N	AEFBI	0.039311	0.05691	N	-0.326071486107245	0.28160	1.550996	-0.608238508299626	0.19282	1.03379	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	0.848000	0.27362	.	.	0.413000	0.20698	0.222000	0.24557	0.000000	0.08366	0.017000	0.10941	0.0:0.0:1.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	8502.25	149	chr19	54865893	.	G	C	8502.25	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.54;DP=787;ExcessHet=3.1439;FS=1.185;MLEAC=4;MLEAF=0.333;MQ=57.92;MQRankSum=-7.514;QD=12.01;ReadPosRankSum=-1.557;SOR=0.815	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1370:.	2	0	4	1
chr19	54866420	54866420	C	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon7:c.C1105G:p.Q369E,KIR3DL2:NM_006737:exon8:c.C1156G:p.Q386E	.	420	771	331	0	0	331	0.176722	0.0001	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000487258690266	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs973541788	6.841e-07	8.893e-06	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.08	0.01032	N	7.15	0.00440	T	1.42	0.00936	N	0.047	0.01911	-0.9881	0.33077	T	0.000	0.00114	T	9	0.028343678	0.00967	T	4.87E-4	0.00143	T	0.019	0.03383	0.432	0.48171	0.139678290688	0.13603	0.030255114197267258	0.02974	0.00231557063093	0.00198	0.46007502079	0.33320	T	0.001004	0.00540	T	-0.420253	0.01704	T	-0.841441	0.01077	T	0.0475666406958597	0.05065	T	.	.	.	0.048541624	0.08476	0.04803189	0.07048	0.048541624	0.08476	0.04803189	0.07048	-3.597	0.17813	T	.	.	0.049	0.00120	B	.;.	.;.	-0.208194	0.03048	0.471	0.46700175483676853	0.03761	0.00016	0.00195	N	AEFBI	0.016061	0.00339	N	-1.82336724726666	0.00490	0.02110744	-1.81317678004361	0.00718	0.0319862	2.83414617026636E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.05	-1.86	0.07340	0.363000	0.20037	.	.	-0.318000	0.05900	0.220000	0.24536	0.000000	0.08366	0.002000	0.04165	0.0:0.5951:0.4049:0.0	6.644	0.22116	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	8695.11	187	chr19	54866420	.	C	G	8695.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.678;DP=1033;ExcessHet=4.7409;FS=14.973;MLEAC=5;MLEAF=0.357;MQ=57.03;MQRankSum=-12.73;QD=9.02;ReadPosRankSum=1.25;SOR=0.344	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1332:.	2	0	5	0
chr19	54866533	54866533	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon8:c.A1119T:p.E373D,KIR3DL2:NM_006737:exon9:c.A1170T:p.E390D	.	420	1022	80	0	0	80	0.0376648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.000605757839165	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs372092512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.432	0.13634	T	0.989	0.62824	D	0.977	0.73820	D	.	.	.	.	1	0.08975	N	1.455	0.36767	L	7.15	0.00448	T	-1.33	0.33197	N	0.032	0.07535	-0.8872	0.49172	T	0.003	0.00832	T	9	0.09381515	0.16631	T	6.06E-4	0.00274	T	0.049	0.13647	0.278	0.23164	0.309530620856	0.30565	0.04776419956839925	0.04719	0.00263683917289	0.00224	0.397166699171	0.24675	T	0.009012	0.08229	T	-0.310709	0.07687	T	-0.684088	0.06738	T	0.0624436335153859	0.07548	T	.	.	.	0.069478154	0.15226	0.052691333	0.08732	0.069478154	0.15226	0.052691333	0.08731	-5.991	0.46204	T	.	.	0.123	0.25914	B	.;.	.;.	1.370321	0.17801	13.38	0.9555976710174543	0.27236	0.00357	0.01833	N	AEFBI	0.023672	0.01352	N	-0.665085175571445	0.17022	0.8724157	-0.948421509682792	0.10960	0.5553993	3.55301781292242E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.4	-2.23	0.06539	0.255000	0.18102	.	.	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3911:0.0:0.0:0.6089	3.962	0.08909	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	1975.73	295	chr19	54866533	.	A	T	1975.73	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.63;DP=1546;ExcessHet=1.1394;FS=39.764;MLEAC=3;MLEAF=0.214;MQ=57.48;MQRankSum=-14.52;QD=1.99;ReadPosRankSum=-0.107;SOR=2.966	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1332	4	0	3	0
chr19	55081335	55081335	G	A	exonic	EPS8L1	.	nonsynonymous SNV	EPS8L1:NM_017729:exon3:c.G236A:p.G79D,EPS8L1:NM_133180:exon8:c.G617A:p.G206D	.	420	1097	5	0	0	5	0.00227376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.011265719925	.	.	0.0005	0	0	0	0	0	0	0.0012	0.00011	17	154602	rs748912216	7.475e-05	7.593e-05	4.085e-05	0.0001	0.0009	6.293e-05	5.823e-05	0.0007	0.0007	3.067e-05	0	0	0	0	0.0009	2.205e-05	8.547e-05	0.0009	5.907e-05	5.905e-05	3.853e-05	8.054e-05	0.0008	3.074e-05	2.208e-05	0.0003	0.0002	0	0	0	0	0	0	0	7.349e-05	0	0.0008	0.615	0.30235	T	0.083	0.41405	T	0.089	0.30614	B	0.018	0.23831	B	0.117855	0.02698	U	3.242140	1	0.08975	N	2.135	0.59519	M	2.96	0.09542	T	-0.38	0.13418	N	0.133	0.17140	-0.9465	0.41566	T	0.018	0.07659	T	10	0.01795718	0.00387	T	0.011266	0.28723	T	0.024	0.04979	0.214	0.13354	0.0986583533028	0.09354	0.4068903591273714	0.40605	0.377068023165	0.39141	0.670666396618	0.62933	T	0.007077	0.06498	T	-0.588403	0.00171	T	-0.681356	0.06901	T	0.0233121260215865	0.01061	T	0.654835	0.27736	T	0.045745466	0.07541	0.077403575	0.17239	0.045745466	0.07541	0.077403575	0.17239	-4.69	0.33283	T	.	.	0.077	0.07650	B	.;.;.;.	.;.;.;.	0.775147	0.11452	8.058	0.81550736933085821	0.13741	0.03575	0.08788	N	ALL	0.048506	0.08283	N	-1.27167055417541	0.04021	0.1807042	-1.40347149872559	0.03217	0.1496123	0.999999999998876	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.504199	0.09095	0	0.618803	0.45993	0	.	.	2.9	-3.23	0.04794	-0.239000	0.08983	-1.027000	0.06560	-0.150000	0.12128	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2411:0.7589:0.0	12.940	0.57734	988	0.01987	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	833.83	26	chr19	55081335	.	G	A	833.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.655;DP=219;ExcessHet=0;FS=1.05;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=-0.599;SOR=1.002	GT:AD:DP:GQ:PL	0/1:22,35:57:99:844,0,542	6	0	1	0
chr19	55161145	55161145	C	T	exonic	DNAAF3	.	nonsynonymous SNV	DNAAF3:NM_001256714:exon8:c.G1036A:p.A346T,DNAAF3:NM_001256715:exon8:c.G832A:p.A278T,DNAAF3:NM_001256716:exon8:c.G670A:p.A224T,DNAAF3:NM_178837:exon8:c.G973A:p.A325T	Ciliary dyskinesia, primary, 2, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	334411	not_provided|DNAAF3-related_disorder|Primary_ciliary_dyskinesia	MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.130	0.0263316271101	0.0011	0.000798722	0.0020	0.0007	0.0025	0	0	0.0031	0	0.0014	0.0010479	162	154602	rs200775946	0.0025	0.0025	0.0026	0.0024	0.0028	0.0024	0.0024	0.0027	0.0027	0.0003	0.0009	3.969e-05	0.0001	0.0040	0.0009	0.0028	0.0023	0.0016	0.0019	0.0019	0.0018	0.0020	0.0030	0.0017	0.0017	0.0027	0.0025	0.0004	0	0.0008	0	0	0.0043	0	0.0030	0.0024	0.0014	0.231	0.18246	T	0.339	0.21411	T	0.99	0.63424	D	0.719	0.54822	P	0.001235	0.39743	N	0.214637	0.942107	0.26760	N	1.865	0.49290	L	2.38	0.15843	T	-1.39	0.34397	N	0.369	0.45709	-1.0863	0.06173	T	0.070	0.28740	T	10	0.013263226	0.00282	T	0.026332	0.49245	D	0.130	0.35528	.	.	0.32082282376	0.31691	0.6881921752266086	0.68759	0.626266692496	0.56765	0.714590251446	0.69259	T	0.001088	0.00603	T	-0.449481	0.01137	T	-0.423352	0.30692	T	0.0228511231372686	0.01006	T	0.713829	0.32612	T	0.11944667	0.28124	0.29025954	0.55048	0.12916973	0.30176	0.40273905	0.64748	-5.169	0.56565	T	0.12517156110956149	0.12402	0.145	0.32251	B	.;.;.;.	.;.;.;.	3.988920	0.58697	24.0	0.99674070690924188	0.78782	0.73468	0.35937	D	AEFDGBCI	0.758477	0.69711	D	0.398226071342304	0.61326	4.332171	0.408302086286137	0.62081	4.417728	0.999999968482387	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.24	4.24	0.49486	4.546000	0.60415	5.728000	0.49506	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	13.989	0.63868	988	0.01987	Dynein assembly factor 3, C-terminal domain;Dynein assembly factor 3, C-terminal domain;Dynein assembly factor 3, C-terminal domain;Dynein assembly factor 3, C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004188	0.000000	0.006964	0.003049	0.000000	0.008929	0.000000	0.003876	0.07143	1112.46	48	chr19	55161145	.	C	T	1112.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.448;DP=391;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=0.501;SOR=0.696	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1138	6	0	1	0
chr19	55198700	55198700	C	T	exonic	PTPRH	.	nonsynonymous SNV	PTPRH:NM_001161440:exon6:c.G1099A:p.V367I,PTPRH:NM_002842:exon8:c.G1633A:p.V545I	.	429	1065	27	1	0	29	0.0134321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.015430059832	0.0006	0.000599042	0.0012	0.0004	0.0009	0.0001	0	0.0009	0.0011	0.0041	0.0010414	161	154602	rs142378567	0.0007	0.0007	0.0005	0.0008	0.0047	0.0006	0.0006	0.0033	0.0032	0.0004	0.0006	0.0114	7.559e-05	0	0.0047	0.0002	0.0015	0.0037	0.0008	0.0008	0.0009	0.0007	0.0031	0.0007	0.0007	0.0019	0.0015	0.0008	0	0.0005	0.0112	0.0002	0	0	0.0004	0.0019	0.0031	0.086	0.32610	T	0.226	0.25438	T	0.986	0.61523	D	0.729	0.55225	P	.	.	.	.	1	0.08975	N	1.775	0.45938	L	-0.51	0.70597	T	-0.14	0.09965	N	0.047	0.05287	-0.8358	0.52924	T	0.228	0.59346	T	9	0.0071885884	0.00163	T	0.01543	0.36156	T	0.206	0.49396	.	.	0.0611884634855	0.05136	0.09783124660389077	0.09714	0.234739043338	0.26012	0.280451714993	0.07555	T	0.001211	0.00709	T	-0.451213	0.01111	T	-0.423019	0.30729	T	0.0178351213803535	0.00511	T	0.548145	0.22252	T	0.015775437	0.00157	0.04808923	0.07070	0.015775437	0.00157	0.04808923	0.07069	-7.693	0.61390	D	.	.	0.088	0.16929	B	.;.	.;.	0.557200	0.09259	6.040	0.82769267252268963	0.14365	0.00173	0.01021	N	AEFBCI	0.056771	0.10521	N	-1.03261698007974	0.07932	0.370237	-1.27669512472212	0.04747	0.2246432	0.0279614918543976	0.13804	0.554377	0.28877	0	0.563428	0.19063	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	2.27	-4.27	0.03486	-0.203000	0.09440	-4.701000	0.02026	-0.276000	0.06580	0.000000	0.06391	0.000000	0.08366	0.120000	0.19168	0.0:0.3234:0.2011:0.4755	3.657	0.07761	988	0.01987	Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.001359	0.008772	0.000000	0.008621	0.000000	0.007576	0.07143	1222.53	34	chr19	55198700	.	C	T	1222.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.07;DP=262;ExcessHet=0;FS=1.878;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=-1.599;SOR=1.007	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1240	6	0	1	0
chr19	55227323	55227323	G	A	exonic	TMEM86B	.	nonsynonymous SNV	TMEM86B:NM_001372013:exon2:c.C536T:p.T179M,TMEM86B:NM_173804:exon3:c.C539T:p.T180M	.	343	1176	3	0	0	3	0.00127389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.0101946239112	.	0.00179712	0.0011	0	0.0001	0	0	0.0002	0	0.0068	0.0007633	118	154602	rs538668600	0.0004	0.0004	0.0003	0.0005	0.0057	0.0004	0.0004	0.0053	0.0051	0	2.257e-05	0	0	1.915e-05	0	3.425e-05	0.0006	0.0057	0.0002	0.0002	0.0002	0.0002	0.0056	0.0002	0.0001	0.0039	0.0034	2.406e-05	0	6.53e-05	0	0	0	0	4.411e-05	0	0.0056	0.257	0.16738	T	0.192	0.28300	T	0.994	0.66517	D	0.721	0.54900	P	0.542932	0.11516	N	0.797316	1	0.08975	N	0.86	0.21358	L	2.01	0.21291	T	-1.17	0.29933	N	0.085	0.06190	-1.0245	0.22246	T	0.040	0.17277	T	10	0.010435492	0.00232	T	0.010195	0.26434	T	0.032	0.07718	0.414	0.45216	0.202086224978	0.19791	0.2952881744574137	0.29441	0.0102585673086	0.00945	0.399007499218	0.24931	T	0.002386	0.01778	T	-0.579946	0.00193	T	-0.602939	0.12566	T	0.0204829964786768	0.00748	T	0.760924	0.38541	T	0.033160593	0.03479	0.04490789	0.05925	0.033160593	0.03479	0.04490789	0.05924	-2.508	0.05836	T	.	.	0.103	0.18622	B	.	.	1.431820	0.18503	13.77	0.99517583028900725	0.69040	0.07447	0.13464	N	AEFBCI	0.030040	0.02947	N	-0.564443064384428	0.20033	1.053084	-0.74363300252104	0.15879	0.8373084	0.999640913041582	0.41316	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.636168	0.56350	0	.	.	4.65	-0.397	0.11804	0.829000	0.27102	0.266000	0.16602	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4314:0.1442:0.4245:0.0	5.247	0.14819	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002039	0.000000	0.000000	0.000000	0.000000	0.000000	0.003165	0.000000	0.07143	1261.83	48	chr19	55227323	.	G	A	1261.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.79;DP=357;ExcessHet=0;FS=0.794;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=-0.716;SOR=0.697	GT:AD:DP:GQ:PL	0/1:42,48:90:99:1272,0,978	6	0	1	0
chr19	55311980	55311980	G	A	exonic	BRSK1	.	nonsynonymous SNV	BRSK1:NM_032430:exon19:c.G2249A:p.R750H	.	443	1078	1	0	0	1	0.000463607	.	.	.	2430729	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.377026085933	7.9e-05	0.000199681	0.0002	0	0	0	0	3.488e-05	0	0.0011	8.41e-05	13	154602	rs370352134	5.428e-05	5.721e-05	3.54e-05	7.344e-05	0.0005	4.375e-05	4.012e-05	0.0004	0.0003	0	0	0	3.246e-05	0	0	2.403e-05	7.967e-05	0.0005	2.774e-05	2.721e-05	2.702e-05	2.85e-05	0.0005	8.48e-06	5.37e-06	8.49e-05	3.537e-05	0	0	0	0	0	0	0	3.032e-05	0	0.0005	0.109	0.38863	T	0.13	0.37589	T	0.022	0.18677	B	0.004	0.10090	B	0.000048	0.53742	D	0.072732	0.716165	0.33569	D	1.355	0.33814	L	-0.64	0.72125	T	-0.68	0.23808	N	0.2	0.22098	-0.7993	0.55185	T	0.162	0.49781	T	10	0.049928784	0.04651	T	0.377026	0.92882	D	0.053	0.14996	.	.	0.750595526317	0.74834	0.1784394873065903	0.17762	1.67395037752	0.89896	0.743869900703	0.73542	T	0.06835	0.33436	T	-0.30936	0.07805	T	-0.314558	0.43169	T	0.12172433041351	0.14597	T	0.781422	0.41649	T	0.087179855	0.20291	0.05995988	0.11339	0.087179855	0.20290	0.05995988	0.11338	-4.192	0.26635	T	.	.	0.087	0.12607	B	.;.;.	.;.;.	3.619693	0.51223	23.1	0.99806136462101736	0.89085	0.81931	0.41240	D	AEFDBI	0.422897	0.48871	N	-0.323310224462339	0.28266	1.557574	-0.129854469885044	0.34193	1.96413	0.0970807444733225	0.16270	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.99	3.95	0.44952	2.340000	0.43631	7.011000	0.57231	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.830000	0.39126	0.0839:0.0:0.9161:0.0	12.464	0.55088	988	0.01987	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	321.27	25	chr19	55311980	.	G	A	321.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.245;DP=187;ExcessHet=0;FS=1.569;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.466;SOR=1.112	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,987	5	0	1	1
chr19	55313037	55313037	C	T	exonic	TMEM150B	.	nonsynonymous SNV	TMEM150B:NM_001085488:exon8:c.G524A:p.C175Y,TMEM150B:NM_001282011:exon8:c.G524A:p.C175Y	.	.	.	.	.	.	.	.	.	.	.	3616881	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	0.00437127124835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	2.052e-06	4.089e-06	0	1.163e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	1.163e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.118	0.36233	T	0.017	0.17573	B	0.006	0.12133	B	0.404587	0.04555	N	1.364350	1	0.08975	N	-1.04	0.01097	N	1.03	0.40469	T	1.12	0.01197	N	0.191	0.20925	-0.9855	0.33711	T	0.026	0.11309	T	10	0.06871587	0.09758	T	0.004371	0.10655	T	0.050	0.13987	0.623	0.75803	0.0551355673512	0.04727	0.2946259529521421	0.29375	0.177468087128	0.19963	0.385279536247	0.23003	T	0.166144	0.51226	T	-0.282423	0.10413	T	-0.643457	0.09419	T	0.0588217629939044	0.06981	T	0.260474	0.05140	T	0.043916926	0.06931	0.08828326	0.20574	0.043916926	0.06930	0.08828326	0.20574	-4.266	0.27697	T	.	.	0.065	0.02038	B	.;.	.;.	-0.418383	0.02144	0.207	0.77702444107387081	0.11986	0.04155	0.09645	N	AEFDGBCI	0.194276	0.32137	N	-1.58592114384843	0.01336	0.0582121	-1.50798766391217	0.02282	0.1047151	0.331213916701266	0.19487	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.37	0.432	0.15742	-0.368000	0.07597	-1.710000	0.04870	-0.258000	0.06954	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2664:0.478:0.1529:0.1027	2.635	0.04655	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	867.44	34	chr19	55313037	.	C	T	867.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.38;DP=307;ExcessHet=0;FS=0.78;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.04;ReadPosRankSum=-0.019;SOR=0.807	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	6	0	1	0
chr19	55715157	55715157	G	A	exonic	NLRP9	.	nonsynonymous SNV	NLRP9:NM_176820:exon6:c.C2399T:p.S800F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0251733743731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	0.24661	T	0.035	0.52389	D	0.859	0.47319	P	0.707	0.54387	P	.	.	.	.	1	0.08975	N	.	.	.	0.51	0.55439	T	-3.69	0.70432	D	0.324	0.36464	-0.8277	0.53448	T	0.241	0.60941	T	9	0.30712396	0.48217	T	0.025173	0.48148	D	0.069	0.20116	0.53	0.63707	0.464270400615	0.46053	0.0947775059406177	0.09409	0.0506893168278	0.05566	0.475639253855	0.35457	T	0.181697	0.53346	T	-0.15048	0.28235	T	-0.453931	0.27263	T	0.467664402244805	0.31445	T	0.435556	0.11926	T	0.11930024	0.28094	0.100064695	0.23914	0.11930024	0.28094	0.100064695	0.23913	-7.76	0.59430	D	.	.	0.149	0.39765	B	.;.	.;.	1.402916	0.18172	13.59	0.98360886240332568	0.40648	0.01374	0.04687	N	AEFBI	0.036478	0.04866	N	-0.465687131737819	0.23211	1.24488	-0.750958533914913	0.15698	0.8269469	1.67610667327111E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.54	0.241	0.14755	1.853000	0.38998	-1.569000	0.05150	0.637000	0.52028	0.028000	0.20300	0.000000	0.08366	0.017000	0.10941	0.1497:0.0:0.5926:0.2577	3.211	0.06286	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1487.44	36	chr19	55715157	.	G	A	1487.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.578;DP=322;ExcessHet=0;FS=0.649;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.855;SOR=0.765	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1362	6	0	1	0
chr19	55809288	55809288	G	A	exonic	NLRP11	.	nonsynonymous SNV	NLRP11:NM_001297743:exon4:c.C1025T:p.T342I,NLRP11:NM_001385451:exon5:c.C1322T:p.T441I,NLRP11:NM_001385453:exon5:c.C1322T:p.T441I,NLRP11:NM_145007:exon5:c.C1322T:p.T441I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.0197888183433	7.7e-05	.	3.297e-05	9.626e-05	0	0	0	4.498e-05	0	0	3.23e-05	5	154602	rs372266379	2.531e-05	2.531e-05	2.45e-05	2.613e-05	3.478e-05	1.868e-05	1.631e-05	2.082e-05	1.782e-05	2.987e-05	0	0	0	0	0	2.878e-05	1.656e-05	3.478e-05	3.285e-05	3.283e-05	3.854e-05	2.69e-05	4.826e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	4.826e-05	0	0	0	0	0	0	4.41e-05	0	0	.	.	.	0.021	0.58089	D	0.411	0.49514	B	0.176	0.44885	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	-0.79	0.74477	T	.	.	.	0.127	0.12055	-0.9207	0.45458	T	0.146	0.47021	T	9	0.071442425	0.10531	T	0.019789	0.42241	T	.	.	.	.	0.391000631824	0.38715	0.289246959348705	0.28837	.	.	0.279491901398	0.07422	T	0.017173	0.14057	T	-0.406225	0.02106	T	-0.629608	0.10444	T	0.0810067959514675	0.10115	T	0.564843	0.19943	T	0.035003953	0.04038	0.047480665	0.06847	0.035003953	0.04037	0.047480665	0.06847	-4.124	0.28498	T	.	.	0.140	0.30582	B	.;.;.	.;.;.	0.048449	0.04628	1.290	0.97780256811389388	0.35932	0.01420	0.04791	N	AEFBCI	0.038279	0.05394	N	-1.36454138690653	0.02977	0.1322755	-1.52110682058913	0.02182	0.09997568	0.953782856225105	0.28093	0.533608	0.22052	0	0.541556	0.11502	0	0.685742	0.62368	0	0.564101	0.26826	0	.	.	2.2	-3.27	0.04735	-1.257000	0.02976	-3.186000	0.02988	-0.911000	0.02260	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4366:0.2462:0.3172	4.546	0.11482	835	0.38313	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1638.44	33	chr19	55809288	.	G	A	1638.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.54;DP=296;ExcessHet=0;FS=0.709;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=0.091;SOR=0.79	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1099	6	0	1	0
chr19	55818171	55818171	C	T	exonic	NLRP11	.	nonsynonymous SNV	NLRP11:NM_001385451:exon4:c.G4A:p.A2T,NLRP11:NM_001385453:exon4:c.G4A:p.A2T,NLRP11:NM_145007:exon4:c.G4A:p.A2T	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.01873474908	.	0.000599042	0.0002	0	0.0002	0	0	0	0	0.0013	0.0001682	26	154602	rs566488800	6.105e-05	6.156e-05	3.41e-05	8.833e-05	0.0009	5.042e-05	4.685e-05	0.0007	0.0006	0	0	0	0	0	0.0003	9.017e-06	4.978e-05	0.0009	5.255e-05	5.249e-05	5.141e-05	5.374e-05	0.0010	2.556e-05	1.829e-05	0.0004	0.0003	0	0	0	0	0	0	0	4.41e-05	0	0.0010	.	.	.	0.0	0.92824	D	0.993	0.65571	D	0.869	0.61749	P	.	.	.	.	0.950218	0.37686	D	1.575	0.39704	L	-1.2	0.79072	T	.	.	.	0.171	0.27316	-0.6407	0.63116	T	0.422	0.76690	T	9	0.02795887	0.00934	T	0.018735	0.40901	T	.	.	0.167	0.07186	0.825536192724	0.82389	0.09012925850994156	0.08945	.	.	0.438958376646	0.30435	T	0.024345	0.18415	T	-0.363428	0.03939	T	-0.351164	0.39072	T	0.945378720760345	0.62250	D	0.478952	0.14445	T	0.09242355	0.21682	0.1283226	0.30875	0.09242355	0.21682	0.1283226	0.30874	-5.234	0.39285	T	.	.	0.267	0.50166	B	.;.	.;.	2.394122	0.30746	18.53	0.99675520107500915	0.78912	0.03964	0.09371	N	AEFBI	0.024680	0.01567	N	-0.152704631216036	0.35120	2.01323	-0.350961712440579	0.26479	1.462842	0.101423438254297	0.16377	0.487112	0.14033	0	0.480063	0.06835	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.56	1.5	0.22029	0.136000	0.15794	-0.136000	0.11567	0.580000	0.29708	0.640000	0.28085	0.317000	0.24303	0.040000	0.14268	0.0:0.8341:0.0:0.1659	5.332	0.15242	792	0.45996	.;DAPIN domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	704.53	47	chr19	55818171	.	C	T	704.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.514;DP=229;ExcessHet=0;FS=1.15;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=0.385;SOR=0.438	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr19	55973721	55973721	G	T	exonic	NLRP8	.	nonsynonymous SNV	NLRP8:NM_001317000:exon7:c.G2547T:p.M849I,NLRP8:NM_176811:exon7:c.G2604T:p.M868I	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00229037520866	.	0.000199681	0.0004	0	8.639e-05	0	0	0	0	0.0031	0.0003493	54	154602	rs541343038	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0002	0.0028	0.0027	0	0	0	0	0	0.0003	0	0.0002	0.0031	8.537e-05	8.531e-05	3.855e-05	0.0001	0.0025	4.955e-05	3.961e-05	0.0014	0.0011	2.407e-05	0	0	0	0	0	0	0	0	0.0025	0.077	0.34095	T	0.12	0.35970	T	0.068	0.34547	B	0.034	0.41566	B	.	.	.	.	1	0.08975	N	-0.075	0.04822	N	0.68	0.51952	T	-1.77	0.41809	N	0.227	0.25499	-1.0001	0.29888	T	0.068	0.27980	T	9	0.013709068	0.00290	T	0.00229	0.04397	T	0.022	0.04323	0.35	0.34760	0.143124449307	0.13826	0.11577117255924183	0.11505	0.118506988283	0.13345	0.360510885715	0.19461	T	0.003617	0.03020	T	-0.598938	0.00148	T	-0.635845	0.09975	T	0.0571791941718412	0.06718	T	0.492351	0.15167	T	0.14177988	0.32655	0.133617	0.32036	0.14177988	0.32654	0.133617	0.32036	-3.633	0.18335	T	.	.	0.286	0.54696	B	.;.	.;.	0.551517	0.09200	5.984	0.90529751048139184	0.19786	0.01352	0.04636	N	AEFDBCI	0.022832	0.01191	N	-1.16867687831218	0.05479	0.2499008	-1.31424140437932	0.04245	0.199831	8.24287343348313E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.04	-3.26	0.04750	-2.394000	0.01132	-0.342000	0.09808	0.573000	0.29008	0.000000	0.06391	0.000000	0.08366	0.070000	0.16646	0.1433:0.3857:0.2751:0.1959	1.607	0.02523	958	0.09170	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1576.45	33	chr19	55973721	.	G	T	1576.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.581;DP=314;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.855;SOR=0.669	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1178	6	0	1	0
chr19	56027647	56027647	G	A	exonic	NLRP5	.	nonsynonymous SNV	NLRP5:NM_153447:exon7:c.G1414A:p.A472T	.	429	1075	17	1	0	19	0.0087598	.	.	.	716699	NLRP5-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.108	.	0.0036	0.00658946	0.0053	0.0058	0.0030	0	0	0.0029	0.0033	0.0213	0.0049353	763	154602	rs138053847	0.0043	0.0043	0.0038	0.0048	0.0216	0.0042	0.0042	0.0207	0.0204	0.0063	0.0022	0.0004	2.519e-05	0.0003	0.0033	0.0034	0.0045	0.0216	0.0040	0.0040	0.0038	0.0042	0.0191	0.0037	0.0036	0.0159	0.0147	0.0060	0.0165	0.0024	0.0003	0.0002	0	0	0.0030	0.0038	0.0191	0.596	0.05703	T	0.218	0.26066	T	0.734	0.42776	P	0.156	0.34472	B	0.170130	0.03104	N	1.955820	1	0.08975	N	0.55	0.14455	N	-0.69	0.72678	T	-0.31	0.12099	N	0.116	0.11340	-0.9232	0.45112	T	0.116	0.40986	T	10	0.0054012835	0.00119	T	.	.	.	0.108	0.30607	.	.	0.335661160332	0.33175	0.12466704048598752	0.12392	0.0220801985691	0.02212	0.188550025225	0.00200	T	0.062841	0.32021	T	-0.531602	0.00376	T	-0.520791	0.20215	T	0.0106503735744448	0.00149	T	0.570043	0.20293	T	0.023743112	0.01140	0.037205417	0.03324	0.023743112	0.01140	0.037205417	0.03324	-5.311	0.40052	T	.	.	0.097	0.15654	B	.;.	.;.	-0.870174	0.00977	0.039	0.87840626277462941	0.17521	0.00258	0.01414	N	AEFDBI	0.017920	0.00505	N	-1.35429293064307	0.03081	0.1370572	-1.56594203968662	0.01868	0.08516214	0.00234955334658641	0.09341	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.82	-5.63	0.02276	-3.609000	0.00465	-6.271000	0.01446	-0.246000	0.07238	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6778:0.0:0.1761:0.1461	6.094	0.19232	969	0.06854	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.005035	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.018939	0.08333	1931.27	73	chr19	56027647	.	G	A	1931.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.69;DP=535;ExcessHet=0;FS=8.258;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=1.81;SOR=1.164	GT:AD:DP:GQ:PL	0/0:100,0:100:99:0,120,1800	5	0	1	1
chr19	56192982	56192982	C	T	exonic	ZSCAN5B	.	nonsynonymous SNV	ZSCAN5B:NM_001080456:exon2:c.G71A:p.R24Q,ZSCAN5B:NM_001385638:exon2:c.G71A:p.R24Q	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000628404142964	0.0002	0.00159744	0.0007	0.0003	0.0005	0.0027	0	0.0004	0.0017	0.0012	0.0004786	74	154602	rs368732521	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0.0002	0	7.59e-05	1.884e-05	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0003	0.0005	0	0.0001	0	0	0	0	0.0002	0	0.0006	0.623	0.05262	T	0.581	0.08505	T	0.005	0.12996	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.97	0.24054	L	3.41	0.05574	T	0.46	0.03140	N	0.042	0.01498	-0.9122	0.46582	T	0.011	0.04181	T	9	0.009268016	0.00209	T	6.28E-4	0.00319	T	0.013	0.01715	.	.	0.0884992946249	0.08302	0.10563149102873566	0.10493	0.0133202695898	0.01281	0.195449352264	0.00337	T	0.002958	0.02360	T	-0.637317	0.00086	T	-0.835165	0.01174	T	0.000831792072858661	0.00008	T	0.471053	0.14308	T	0.019918086	0.00534	0.030290134	0.01466	0.019918086	0.00534	0.030290134	0.01466	-3.213	0.12640	T	.	.	0.168	0.36966	B	.;.;.;.	.;.;.;.	-0.996213	0.00776	0.025	0.70732807401391606	0.09392	0.00154	0.00927	N	AEFBI	0.032604	0.03714	N	-1.72174310897404	0.00767	0.03314728	-1.85399979680722	0.00601	0.02670907	4.65474837995175E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.315538	0.05692	2	0.613276	0.41899	0	.	.	2.0	-4.01	0.03775	-3.313000	0.00572	.	.	-1.340000	0.01205	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2841:0.3396:0.3763:0.0	4.789	0.12609	922	0.19044	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	67.44	35	chr19	56192982	.	C	T	67.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.383;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.86;ReadPosRankSum=0.674;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,102,1376:.	6	0	1	0
chr19	56192989	56192989	T	G	exonic	ZSCAN5B	.	nonsynonymous SNV	ZSCAN5B:NM_001080456:exon2:c.A64C:p.T22P,ZSCAN5B:NM_001385638:exon2:c.A64C:p.T22P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.000615645786156	.	.	2.693e-05	0	0	0	0	5.272e-05	0	0	3.84e-05	1	26028	rs765870687	2.131e-05	5.062e-05	2.597e-05	1.66e-05	0.0001	1.528e-05	1.331e-05	5.909e-05	4.02e-05	0	0.0001	0	0	0	0	2.077e-05	1.663e-05	1.17e-05	3.29e-05	4.598e-05	2.573e-05	4.041e-05	6.558e-05	1.262e-05	7.99e-06	1.973e-05	1.125e-05	0	0	6.558e-05	0	0	0	0	5.884e-05	0	0	0.132	0.26519	T	0.257	0.23231	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.57	0.02306	N	3.42	0.05507	T	0.22	0.04694	N	0.04	0.01911	-0.9249	0.44872	T	0.008	0.02842	T	9	0.047068626	0.03978	T	6.16E-4	0.00289	T	0.017	0.02790	0.125	0.03095	0.0401082797425	0.02173	0.16285928319066495	0.16205	0.0132716735752	0.01276	0.25662946701	0.04497	T	0.001149	0.00651	T	-0.508525	0.00512	T	-0.788554	0.02204	T	0.024951337964339	0.01266	T	0.30177	0.06128	T	0.05168169	0.09526	0.04529222	0.06063	0.05168169	0.09525	0.04529222	0.06063	-2.74	0.07645	T	.	.	0.165	0.38516	B	.;.;.;.	.;.;.;.	-0.325663	0.02506	0.296	0.34067678889158082	0.02064	0.00030	0.00276	N	AEFBI	0.011306	0.00097	N	-1.50687003007531	0.01804	0.07907242	-1.55186892497863	0.01963	0.08963716	1.68474210865508E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.315538	0.05692	2	0.613276	0.41899	0	.	.	2.0	-0.456	0.11581	-0.565000	0.06020	.	.	-1.510000	0.01017	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1808:0.0:0.529:0.2902	2.592	0.04552	922	0.19044	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	67.44	35	chr19	56192989	.	T	G	67.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.383;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.86;ReadPosRankSum=-0.674;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,102,1376:.	6	0	1	0
chr19	56192990	56192990	G	C	exonic	ZSCAN5B	.	nonsynonymous SNV	ZSCAN5B:NM_001080456:exon2:c.C63G:p.D21E,ZSCAN5B:NM_001385638:exon2:c.C63G:p.D21E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.000515168667146	.	.	2.734e-05	0	0	0	0	5.37e-05	0	0	3.84e-05	1	26028	rs753351356	2.27e-05	4.788e-05	2.597e-05	1.939e-05	0.0001	1.619e-05	1.424e-05	5.916e-05	4.025e-05	0	0.0001	0	0	0	0	2.258e-05	1.663e-05	1.171e-05	4.601e-05	5.911e-05	5.139e-05	4.037e-05	8.82e-05	2.11e-05	1.527e-05	3.762e-05	2.575e-05	0	0	6.544e-05	0	0	0	0	8.82e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.035	0.00180	N	3.58	0.04594	T	0.82	0.01813	N	0.009	0.00081	-0.9745	0.36235	T	0.004	0.01159	T	9	0.030825317	0.01212	T	5.15E-4	0.00163	T	0.010	0.01040	0.107	0.01868	0.0806252709748	0.07271	0.07052811889624717	0.06989	0.0129316536447	0.01244	0.263431340456	0.05306	T	8.52E-4	0.00427	T	-0.434676	0.01390	T	-0.862158	0.00820	T	0.0441346351977518	0.04444	T	0.325967	0.06723	T	0.025773967	0.01554	0.028616436	0.01115	0.025773967	0.01554	0.028616436	0.01115	-2.221	0.04143	T	.	.	0.302	0.53127	B	.;.;.;.	.;.;.;.	-0.634596	0.01480	0.092	0.13449365860153878	0.00266	0.00017	0.00201	N	AEFBI	0.015687	0.00312	N	-1.91986226986794	0.00313	0.01342251	-1.95496022755284	0.00380	0.01678341	8.42015593050589E-5	0.04703	0.487112	0.14033	0	0.573888	0.26702	0	0.315538	0.05692	2	0.613276	0.41899	0	.	.	2.0	-4.01	0.03775	-0.003000	0.12836	.	.	-0.374000	0.05429	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1607:0.2454:0.4658:0.1281	2.899	0.05349	922	0.19044	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	67.44	35	chr19	56192990	.	G	C	67.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.383;DP=228;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.86;ReadPosRankSum=-0.674;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,102,1376:.	6	0	1	0
chr19	56815482	56815482	T	C	exonic	PEG3	.	nonsynonymous SNV	PEG3:NM_001369735:exon8:c.A2495G:p.H832R,PEG3:NM_001369736:exon8:c.A2495G:p.H832R,PEG3:NM_001146184:exon9:c.A2960G:p.H987R,PEG3:NM_001146185:exon9:c.A2582G:p.H861R,PEG3:NM_001146187:exon9:c.A2588G:p.H863R,PEG3:NM_001369717:exon9:c.A2966G:p.H989R,PEG3:NM_001369719:exon9:c.A2873G:p.H958R,PEG3:NM_001369721:exon9:c.A2588G:p.H863R,PEG3:NM_001369725:exon9:c.A2588G:p.H863R,PEG3:NM_001369733:exon9:c.A2588G:p.H863R,PEG3:NM_001369734:exon9:c.A2495G:p.H832R,PEG3:NM_001369737:exon9:c.A2495G:p.H832R,PEG3:NM_001369718:exon10:c.A2966G:p.H989R,PEG3:NM_001369722:exon10:c.A2588G:p.H863R,PEG3:NM_001369727:exon10:c.A2588G:p.H863R,PEG3:NM_001369729:exon10:c.A2588G:p.H863R,PEG3:NM_001369730:exon10:c.A2588G:p.H863R,PEG3:NM_001369732:exon10:c.A2588G:p.H863R,PEG3:NM_001369738:exon10:c.A2495G:p.H832R,PEG3:NM_001369739:exon10:c.A2588G:p.H863R,PEG3:NM_006210:exon10:c.A2960G:p.H987R,PEG3:NM_001369723:exon11:c.A2588G:p.H863R,PEG3:NM_001369726:exon11:c.A2588G:p.H863R,PEG3:NM_001369728:exon11:c.A2588G:p.H863R,PEG3:NM_001369731:exon11:c.A2588G:p.H863R,PEG3:NM_001369720:exon12:c.A2588G:p.H863R,PEG3:NM_001369724:exon12:c.A2588G:p.H863R	.	434	1077	11	0	0	11	0.00508083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.904	0.047495656025	0.0003	0.000599042	0.0005	0	0.0004	0.0001	0	0.0003	0	0.0018	0.0003881	60	154602	rs149044578	0.0004	0.0004	0.0003	0.0004	0.0021	0.0003	0.0003	0.0015	0.0014	5.974e-05	0.0004	0.0011	0	1.872e-05	0.0021	0.0002	0.0006	0.0017	0.0002	0.0002	0.0002	0.0003	0.0015	0.0002	0.0002	0.0007	0.0005	0	0	0.0002	0.0017	0	9.422e-05	0	0.0002	0.0009	0.0015	0.002	0.72154	D	0.005	0.72224	D	0.993	0.65571	D	0.867	0.61644	P	0.008410	0.30856	N	0.157460	.	.	.	3.17	0.88688	M	-10.2	0.99973	D	-6.77	0.92782	D	0.393	0.43417	0.706	0.93246	D	0.999	0.99966	D	9	0.44560167	0.58376	T	0.047496	0.62947	D	0.904	0.97361	.	.	0.966840758934	0.96648	.	.	0.341851203448	0.36127	0.595650911331	0.52290	T	0.747635	0.93059	D	0.172614	0.71364	D	0.445092	0.93457	D	0.138966247814793	0.16185	T	0.778722	0.41238	T	0.7036037	0.78254	0.6413757	0.79046	0.7036037	0.78256	0.6413757	0.79047	-8.341	0.63371	D	.	.	0.719	0.78304	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.780115	0.54344	23.5	0.99767650122533635	0.85583	0.91446	0.53550	D	AEFBCI	0.587951	0.58541	D	0.599863839666933	0.73167	5.922005	0.537725121636154	0.70548	5.521384	0.999997548459637	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.55	4.55	0.55429	4.461000	0.59851	.	.	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	12.161	0.53408	976	0.04745	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;.;.;.;.;.;.;.;.;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	142.44	87	chr19	56815482	.	T	C	142.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.792;DP=290;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.35;ReadPosRankSum=-1.465;SOR=0.223	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,100,1471	6	0	1	0
chr19	57399635	57399635	G	A	exonic	ZNF548	.	nonsynonymous SNV	ZNF548:NM_152909:exon3:c.G1348A:p.E450K,ZNF548:NM_001172773:exon4:c.G1384A:p.E462K	.	413	1099	10	0	0	10	0.00452899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00265047817399	0.0017	0.000599042	0.0015	0.0007	0.0003	0	0.0002	0.0018	0.0011	0.0028	0.0013713	212	154602	rs199946339	0.0015	0.0015	0.0015	0.0016	0.0037	0.0015	0.0015	0.0033	0.0032	0.0003	0.0002	3.826e-05	0	0.0001	0.0028	0.0016	0.0015	0.0037	0.0009	0.0009	0.0009	0.0009	0.0025	0.0008	0.0007	0.0014	0.0011	0.0004	0	0.0007	0	0	0	0	0.0014	0.0009	0.0025	0.11	0.31532	T	0.103	0.38305	T	0.469	0.36524	P	0.056	0.26147	B	.	.	.	.	1	0.08975	N	0.2	0.09183	N	2.16	0.19166	T	-2.2	0.51968	N	0.143	0.17828	-1.0160	0.25013	T	0.017	0.06807	T	9	0.007980734	0.00181	T	0.00265	0.05406	T	0.073	0.21317	.	.	0.128392430309	0.12331	0.11648174416651406	0.11576	0.66540836955	0.59140	0.291519969702	0.09144	T	0.115586	0.43429	T	-0.600571	0.00145	T	-0.638506	0.09778	T	0.0247555813381665	0.01240	T	0.380262	0.09387	T	0.111696035	0.26394	0.14641881	0.34689	0.111696035	0.26393	0.14641881	0.34689	-5.515	0.42008	T	.	.	0.129	0.29228	B	.;.	.;.	2.321458	0.29724	18.21	0.99739446416378774	0.83409	0.03384	0.08490	N	AEFGBCI	0.061247	0.11695	N	-0.921735874098398	0.10335	0.4933596	-0.945540936247283	0.11027	0.5592307	0.173932436500725	0.17776	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	2.26	1.22	0.20300	-2.592000	0.00972	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.2913:0.0:0.4527:0.2561	2.159	0.03587	952	0.10565	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	2112.45	38	chr19	57399635	.	G	A	2112.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.04;DP=347;ExcessHet=0;FS=1.305;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=0.119;SOR=0.721	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	6	0	1	0
chr19	57474334	57474334	C	A	exonic	ZNF772	.	nonsynonymous SNV	ZNF772:NM_001330613:exon3:c.G74T:p.G25V,ZNF772:NM_001144068:exon4:c.G287T:p.G96V,ZNF772:NM_001024596:exon5:c.G410T:p.G137V	.	428	1064	29	1	0	31	0.0143585	.	.	.	2815433	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.014	.	0.0065	0.00179712	0.0052	0.0012	0.0042	0	0.0005	0.0080	0.0121	0.0016	0.0051552	797	154602	rs149559142	0.0056	0.0056	0.0056	0.0057	0.0479	0.0055	0.0055	0.0432	0.0414	0.0016	0.0052	0.0325	0	0.0002	0.0479	0.0056	0.0078	0.0018	0.0049	0.0049	0.0051	0.0047	0.0066	0.0046	0.0045	0.0061	0.0059	0.0013	0	0.0061	0.0314	0	0.0004	0.0442	0.0066	0.0090	0.0017	0.082	0.42783	T	0.1	0.43913	T	0.015	0.17086	B	0.006	0.12133	B	.	.	.	.	0.999999	0.08975	N	0.91	0.23283	L	3.4	0.06445	T	-2.55	0.75297	D	0.075	0.07535	-0.9246	0.44915	T	0.007	0.02282	T	9	0.003584683	0.00065	T	.	.	.	0.014	0.01968	.	.	0.242825505644	0.23883	0.06286079249604214	0.06225	0.265364884536	0.29093	0.231391102076	0.02073	T	0.082708	0.36889	T	-0.692122	0.00041	T	-0.762956	0.03008	T	0.00628874385665996	0.00070	T	0.00682563	0.00163	T	0.053275492	0.10058	0.0621461	0.12114	0.053275492	0.10058	0.0621461	0.12114	-4.803	0.41388	T	.	.	0.086	0.16538	B	.;.;.	.;.;.	-0.622206	0.01512	0.096	0.38261841953168846	0.02570	0.08835	0.14704	N	AEFBCI	0.082553	0.16716	N	-1.8198645664141	0.00498	0.02145112	-1.91443553567497	0.00458	0.02028973	0.999532729199548	0.40238	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.99	-7.18	0.01354	-1.430000	0.02541	.	.	-1.832000	0.00589	0.000000	0.06391	.	.	0.000000	0.00833	0.3455:0.2572:0.1076:0.2898	0.653	0.00777	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.034778	0.020202	0.046196	0.064706	0.050000	0.025862	0.015244	0.003788	0.07143	561.83	53	chr19	57474334	.	C	A	561.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.964;DP=262;ExcessHet=0;FS=5.964;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-0.009;SOR=1.628	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	6	0	1	0
chr19	57493645	57493645	G	A	exonic	ZNF419	.	nonsynonymous SNV	ZNF419:NM_001098495:exon3:c.G953A:p.R318H,ZNF419:NM_001098496:exon3:c.G950A:p.R317H,ZNF419:NM_001098492:exon4:c.G1052A:p.R351H,ZNF419:NM_001098493:exon4:c.G1049A:p.R350H,ZNF419:NM_001098494:exon4:c.G992A:p.R331H,ZNF419:NM_001291743:exon4:c.G989A:p.R330H,ZNF419:NM_001291744:exon4:c.G824A:p.R275H,ZNF419:NM_001098491:exon5:c.G1091A:p.R364H,ZNF419:NM_024691:exon5:c.G1088A:p.R363H	.	424	1089	7	2	0	11	0.00502513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.007	0.00179712	0.0069	0.0018	0.0010	0.0001	0.0157	0.0103	0.0033	0.0010	0.0067011	1036	154602	rs190991901	0.0081	0.0081	0.0084	0.0079	0.0095	0.0080	0.0080	0.0093	0.0092	0.0015	0.0013	0.0005	7.557e-05	0.0137	0.0010	0.0095	0.0066	0.0012	0.0057	0.0057	0.0058	0.0056	0.0091	0.0054	0.0053	0.0085	0.0082	0.0013	0	0.0028	0.0009	0.0004	0.0134	0	0.0091	0.0028	0.0006	0.002	0.78490	D	0.024	0.79402	D	1.0	0.90584	D	0.946	0.70672	D	.	.	.	.	1	0.08975	N	1.905	0.50856	L	1.78	0.25678	T	-3.87	0.75139	D	0.309	0.42050	-1.0253	0.21985	T	0.096	0.36029	T	9	0.005657226	0.00126	T	.	.	.	0.026	0.05648	.	.	0.215109475489	0.21095	0.02654891569215712	0.02604	0.177019155059	0.19917	0.498757123947	0.38654	T	0.072844	0.34553	T	-0.517906	0.00452	T	-0.508893	0.21430	T	0.0443826195562264	0.04490	T	0.539146	0.22875	T	0.23445682	0.46267	0.27970666	0.53941	0.23445682	0.46267	0.27970666	0.53940	-10.514	0.76927	D	.	.	0.658	0.71961	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.857490	0.37744	20.6	0.99745433717500886	0.83852	0.06457	0.12464	N	AEFGBI	0.046647	0.07769	N	-0.31816867139106	0.28459	1.569819	-0.645093629492661	0.18340	0.9793189	0.0278239713266579	0.13796	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.8	-0.582	0.11122	-0.058000	0.11707	.	.	0.467000	0.21759	0.000000	0.06391	0.000000	0.08366	0.228000	0.22680	0.2787:0.0:0.5051:0.2162	2.945	0.05487	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;.;.;.;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	ZNF544	Skin_Not_Sun_Exposed_Suprapubic	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	1552.46	39	chr19	57493645	.	G	A	1552.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.47;DP=330;ExcessHet=0;FS=0.647;MLEAC=1;MLEAF=0.071;MQ=58.79;MQRankSum=-0.333;QD=11.59;ReadPosRankSum=1.06;SOR=0.799	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	6	0	1	0
chr19	57538709	57538709	C	T	exonic	ZNF549	.	nonsynonymous SNV	ZNF549:NM_153263:exon3:c.C1666T:p.R556C,ZNF549:NM_001199295:exon4:c.C1705T:p.R569C	.	.	.	.	.	.	.	.	.	.	.	2678997	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.026	0.00189000408599	7.7e-05	0.000199681	4.121e-05	9.647e-05	0	0	0	5.996e-05	0	0	4.53e-05	7	154602	rs180734719	2.531e-05	2.531e-05	2.45e-05	2.613e-05	0.0002	1.868e-05	1.631e-05	9.751e-05	6.951e-05	0.0002	2.236e-05	0	0	0	0	1.978e-05	6.623e-05	3.478e-05	9.854e-05	9.844e-05	0.0001	6.717e-05	0.0002	6.005e-05	4.879e-05	0.0001	8.437e-05	0.0002	0	0	0	0.0002	0	0	7.351e-05	0	0	0.014	0.53172	D	0.026	0.57104	D	0.615	0.73220	P	0.163	0.43987	B	.	.	.	.	1	0.08975	N	2.285	0.65182	M	2.37	0.15964	T	-3.01	0.62518	D	0.216	0.25622	-1.1185	0.02428	T	0.027	0.11441	T	9	0.07612482	0.11853	T	0.00189	0.03325	T	0.026	0.05648	.	.	0.210429274316	0.20668	0.0634963257365238	0.06288	0.0864432078013	0.09759	0.279414474964	0.07411	T	0.076178	0.35356	T	-0.507371	0.00520	T	-0.612546	0.11779	T	0.294086307287216	0.24760	T	0.121488	0.00967	T	0.10536222	0.24911	0.09287628	0.21909	0.10536222	0.24911	0.09287628	0.21909	-7.61	0.58381	D	.	.	0.257	0.49196	B	.;.	.;.	2.694656	0.35184	19.83	0.94310853138262829	0.24628	0.02347	0.06701	N	AEFBHCI	0.031388	0.03350	N	-1.05558435458837	0.07478	0.3475392	-1.27280485247672	0.04802	0.2273687	0.529056243878097	0.21160	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.5	-5.0	0.02777	0.274000	0.18443	.	.	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.456000	0.28029	0.4249:0.2806:0.0:0.2945	3.968	0.08934	988	0.01987	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	551.49	52	chr19	57538709	.	C	T	551.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.05;DP=232;ExcessHet=0;FS=1.079;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=1.13;SOR=0.478	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1085	6	0	1	0
chr19	57875137	57875137	C	G	exonic	ZNF814	.	nonsynonymous SNV	ZNF814:NM_001144989:exon3:c.G253C:p.G85R	.	451	1066	4	1	0	6	0.00280636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00152503973671	.	0.000399361	0.0009	0	0.0011	0	0	0.0014	0.0051	0	0.0001921	5	26028	rs575379804	0.0004	0.0004	0.0004	0.0004	0.0043	0.0004	0.0003	0.0029	0.0024	0.0001	0.0005	0.0023	0	0	0.0043	0.0004	0.0006	0.0001	0.0005	0.0005	0.0004	0.0005	0.0013	0.0004	0.0003	0.0008	0.0007	7.308e-05	0	0.0013	0.0017	0	0	0.0103	0.0005	0.0010	0.0002	0.588	0.05844	T	0.264	0.50514	T	0.975	0.58077	D	0.831	0.59664	P	.	.	.	.	1	0.08975	N	1.73	0.44655	L	3.2	0.07236	T	-2.77	0.58733	D	0.164	0.27435	-1.0176	0.24495	T	0.025	0.10821	T	9	0.012584329	0.00270	T	0.001525	0.02369	T	0.074	0.21613	.	.	0.156986980423	0.15292	0.010693704017999513	0.01030	0.214983796661	0.24033	0.271185457706	0.06296	T	0.264912	0.63673	T	-0.570327	0.00220	T	-0.693978	0.06161	T	0.0892104680585284	0.11123	T	0.663934	0.27277	T	0.038817205	0.05243	0.08079541	0.18306	0.038817205	0.05243	0.08079541	0.18306	-5.536	0.42204	T	.	.	0.095	0.33039	B	.;.	.;.	1.809689	0.23000	15.85	0.91028236354299485	0.20278	0.03616	0.08851	N	AEFBI	0.071349	0.14201	N	-0.643592863881751	0.17647	0.9098487	-0.901669130890979	0.12055	0.6178824	7.46895565755475E-5	0.04552	0.732398	0.92422	0	0.743671	0.97443	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	2.56	-1.31	0.08749	-0.280000	0.08500	.	.	-0.269000	0.06763	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.232:0.3916:0.2277:0.1488	1.059	0.01496	982	0.03397	Krueppel-associated box;Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006271	0.000000	0.011050	0.013274	0.000000	0.000000	0.000000	0.000000	0.08333	302.27	24	chr19	57875137	.	C	G	302.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.411;DP=184;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=35.69;MQRankSum=0.138;QD=12.59;ReadPosRankSum=0;SOR=0.818	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	1
chr19	57979880	57979880	T	C	exonic	ZNF606	.	nonsynonymous SNV	ZNF606:NM_001348023:exon6:c.A530G:p.D177G,ZNF606:NM_001348024:exon6:c.A530G:p.D177G,ZNF606:NM_001348022:exon7:c.A800G:p.D267G,ZNF606:NM_001348025:exon7:c.A326G:p.D109G,ZNF606:NM_025027:exon7:c.A800G:p.D267G	.	437	1082	3	0	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	.	0.00459265	0.0031	0	0.0003	0	0	3.002e-05	0.0055	0.0224	0.0027296	422	154602	rs199550422	0.0014	0.0014	0.0008	0.0020	0.0216	0.0014	0.0014	0.0208	0.0205	5.974e-05	4.472e-05	0	0	0	0.0009	9.622e-05	0.0018	0.0216	0.0008	0.0008	0.0005	0.0011	0.0232	0.0006	0.0006	0.0197	0.0184	0	0	0.0001	0	0	0	0	1.47e-05	0	0.0232	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.557282	0.11373	N	0.742703	0.999788	0.20372	N	0.07	0.08264	N	3.4	0.05642	T	-0.04	0.07590	N	0.164	0.17278	-0.9372	0.43057	T	0.009	0.03271	T	10	0.003860861	0.00073	T	.	.	.	0.099	0.28413	0.627	0.76254	0.195762928549	0.19159	0.2752809683504997	0.27441	0.246347160271	0.27172	0.324503034353	0.14103	T	0.008994	0.08221	T	-0.573803	0.00210	T	-0.580085	0.14538	T	0.0105039502715826	0.00145	T	0.345165	0.29138	T	0.081279464	0.18668	0.09399156	0.22228	0.081279464	0.18668	0.09399156	0.22227	-0.143	0.00403	T	.	.	0.077	0.48634	B	.;.	.;.	0.660940	0.10293	7.026	0.09460829552142927	0.00097	0.27693	0.23348	N	AEFDBCI	0.061600	0.11787	N	-0.957729353659473	0.09520	0.4509311	-0.843582112668722	0.13442	0.6973206	8.07134809405697E-4	0.07842	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.19	3.14	0.35196	0.338000	0.19599	.	.	0.665000	0.62972	0.000000	0.06391	0.001000	0.17328	0.624000	0.32000	0.0:0.2317:0.0:0.7683	6.355	0.20602	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	108.44	38	chr19	57979880	.	T	C	108.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=229;ExcessHet=0;FS=3.979;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.69;ReadPosRankSum=1.28;SOR=1.447	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	6	0	1	0
chr19	58357131	58357131	T	C	exonic	ZNF497	.	nonsynonymous SNV	ZNF497:NM_001207009:exon2:c.A505G:p.K169E,ZNF497:NM_198458:exon3:c.A505G:p.K169E	.	412	1107	3	0	0	3	0.00135318	.	.	.	3350672	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.00266133179415	0.0005	.	0.0002	0	0.0002	0	0.0002	0.0003	0	6.16e-05	0.0001811	28	154602	rs200614748	0.0003	0.0003	0.0003	0.0003	0.0009	0.0003	0.0003	0.0004	0.0003	3.022e-05	4.536e-05	7.763e-05	0	5.687e-05	0.0009	0.0004	0.0002	0.0001	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	4.815e-05	0	0.0001	0	0	0	0	0.0006	0.0009	0	0.007	0.59928	D	0.006	0.70582	D	0.999	0.77913	D	0.99	0.78936	D	.	.	.	.	0.984363	0.24806	N	1.65	0.42232	L	1.69	0.27032	T	-3.38	0.66780	D	0.23	0.25867	-1.0214	0.23259	T	0.118	0.41538	T	9	0.15790862	0.29707	T	0.002661	0.05434	T	0.031	0.07369	.	.	0.514416127146	0.51083	0.05415365659661608	0.05357	1.20472787136	0.80666	0.431578278542	0.29424	T	0.08316	0.36992	T	-0.39407	0.02532	T	-0.458892	0.26719	T	0.11451900479981	0.13886	T	0.276672	0.04749	T	0.24476346	0.47428	0.17288291	0.39574	0.24476346	0.47428	0.17288291	0.39574	-8.766	0.66178	D	.	.	0.949	0.86836	P	.;.	.;.	2.279057	0.29141	18.03	0.98766139172083023	0.45893	0.14143	0.18246	N	AEFDBCI	0.072249	0.14412	N	-0.377751602334487	0.26264	1.43203	-0.702889709623859	0.16889	0.8955397	0.999992550030433	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.608524	0.38960	0	0.554799	0.18163	0	.	.	0.934	-0.278	0.12256	2.143000	0.41811	-12.905000	0.00492	0.260000	0.18395	0.043000	0.21118	0.000000	0.08366	0.297000	0.24428	0.0:0.1943:0.0:0.8057	5.226	0.14716	958	0.09170	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	2086.46	36	chr19	58357131	.	T	C	2086.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.674;DP=363;ExcessHet=0;FS=1.208;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.304;SOR=0.84	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1113:.	6	0	1	0
chr19	58396103	58396103	G	C	exonic	RNF225	.	nonsynonymous SNV	RNF225:NM_001195135:exon1:c.G14C:p.R5P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0	0	0.0002	6.5e-06	1	154602	rs746478530	1.162e-05	1.094e-05	1.29e-05	1.031e-05	0.0005	6.88e-06	5.57e-06	0.0001	0.0001	0	0.0003	0	0	0	0.0005	0	5.216e-05	2.547e-05	6.574e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.202	0.27414	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.33	0.35031	T	.	.	.	0.395	0.43610	.	.	.	.	.	.	.	0.23004064	0.39946	T	.	.	.	.	.	.	.	0.596538173739	0.59332	0.6810831403345805	0.68047	.	.	0.820739448071	0.85141	D	0.008722	0.07985	T	-0.430811	0.01466	T	-0.547739	0.17543	T	.	.	.	0.455554	0.13039	T	0.41227555	0.61574	0.4535591	0.68221	0.41227555	0.61574	0.4535591	0.68221	-3.198	0.12456	T	.	.	0.125	0.26514	B	.	.	4.127631	0.61742	24.4	0.72717231104606839	0.10070	0.89202	0.49526	D	AEFDBHCI	0.652577	0.62593	D	.	.	.	.	.	.	0.999991855449919	0.74766	0.578255	0.32838	2	0.150725	0.03546	3	0.606814	0.37721	0	0.645665	0.59343	0	.	.	4.17	3.12	0.34986	0.315000	0.19200	7.444000	0.58900	0.614000	0.49286	0.000000	0.06391	1.000000	0.68203	0.577000	0.30821	0.1136:0.0:0.8864:0.0	8.006	0.29484	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	549.83	30	chr19	58396103	.	G	C	549.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.68;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-0.822;SOR=0.883	GT:AD:DP:GQ:PL	0/1:22,22:44:99:560,0,471	6	0	1	0
chr19	58480635	58480635	G	A	exonic	ZNF446	.	nonsynonymous SNV	ZNF446:NM_017908:exon7:c.G1262A:p.R421Q	.	423	1098	1	0	0	1	0.000455166	.	.	.	2339453	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.111	0.0578439369743	.	0.000399361	0.0001	0	0.0003	0	0	7.948e-05	0.0012	0.0002	0.00011	17	154602	rs140471976	0.0001	0.0001	0.0001	0.0001	0.0021	0.0001	0.0001	0.0012	0.0009	0.0004	0.0005	3.829e-05	2.52e-05	0	0.0021	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0.0005	7.106e-05	5.759e-05	0.0002	0.0002	4.833e-05	0	0.0005	0	0	0	0	5.889e-05	0.0019	0	.	.	.	0.022	0.58613	D	0.988	0.62325	D	0.927	0.66185	D	0.002899	0.35770	N	0.000000	0.839413	0.28651	N	2.44	0.70756	M	2.12	0.19726	T	.	.	.	0.208	0.24634	-0.8195	0.53965	T	0.238	0.60535	T	9	0.044916183	0.03503	T	0.057844	0.67109	D	.	.	.	.	0.130388298395	0.12655	0.1907000733968595	0.18988	0.162519781198	0.18338	0.538793325424	0.44275	T	0.109	0.42251	T	-0.426307	0.01561	T	-0.528171	0.19469	T	0.0984022846692351	0.12181	T	0.762524	0.46176	T	0.14540912	0.33334	0.11786502	0.28451	0.14540912	0.33334	0.11786502	0.28450	-7.323	0.56359	T	.	.	0.418	0.68363	A	.;.;.	.;.;.	2.458210	0.31662	18.81	0.99842122494876451	0.92229	0.27259	0.23227	N	AEFBCI	0.127655	0.24512	N	0.209089960273818	0.51640	3.34358	0.0684496214392303	0.42973	2.608802	0.937765136450437	0.27312	0.615465	0.37627	0	0.577304	0.33150	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.2	3.17	0.35510	0.763000	0.26183	0.795000	0.21604	0.676000	0.76740	0.011000	0.18532	0.831000	0.27213	0.979000	0.57723	0.1021:0.1918:0.7061:0.0	6.055	0.19032	906	0.23090	Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004028	0.005051	0.008152	0.000000	0.050000	0.000000	0.000000	0.000000	0.08333	1129.27	36	chr19	58480635	.	G	A	1129.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.158;DP=281;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=0.962;SOR=0.76	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1203	5	0	1	1
chr20	229737	229737	C	A	exonic	DEFB129	.	nonsynonymous SNV	DEFB129:NM_080831:exon2:c.C518A:p.P173Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0107788321722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.351	0.17425	T	0.478	0.36706	P	0.1	0.30674	B	0.002753	0.36001	N	0.000000	1	0.08975	N	0.69	0.16971	N	0.64	0.52867	T	-1.87	0.43717	N	0.159	0.16586	-1.0426	0.16532	T	0.059	0.24539	T	10	0.09048301	0.15765	T	0.010779	0.27705	T	0.067	0.19503	0.075	0.00517	0.206339911435	0.20273	0.243968376416795	0.24310	0.578357354615	0.53735	0.272386163473	0.06454	T	0.005483	0.04931	T	-0.207045	0.19797	T	-0.535182	0.18773	T	0.423884757100785	0.29834	T	0.410559	0.10607	T	0.06253011	0.13071	0.08211714	0.18716	0.06253011	0.13070	0.08211714	0.18716	-4.354	0.28927	T	.	.	0.096	0.15385	B	.	.	1.505870	0.19352	14.22	0.97525787586907475	0.34432	0.05451	0.11329	N	AEFBI	0.024774	0.01587	N	-0.727966042490004	0.15238	0.7662301	-0.783015476556208	0.14911	0.7816172	2.11665721522032E-4	0.05997	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.39	2.41	0.28644	0.364000	0.20053	0.547000	0.19386	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.1988:0.6986:0.0:0.1026	5.363	0.15402	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1110.49	41	chr20	229737	.	C	A	1110.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.882;DP=293;ExcessHet=0;FS=1.935;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.486;SOR=0.938	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr20	1313405	1313405	G	A	exonic	SDCBP2	.	nonsynonymous SNV	SDCBP2:NM_015685:exon1:c.C64T:p.R22C,SDCBP2:NM_001199784:exon5:c.C319T:p.R107C,SDCBP2:NM_080489:exon5:c.C319T:p.R107C	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.808	.	0.0034	0.00359425	0.0016	0.0150	0.0011	0	0	0.0005	0	0.0002	0.0012096	187	154602	rs35578871	0.0005	0.0005	0.0005	0.0005	0.0095	0.0004	0.0004	0.0086	0.0083	0.0095	0.0013	0.0003	0	0	0.0024	0.0002	0.0012	0.0002	0.0030	0.0030	0.0032	0.0028	0.0096	0.0028	0.0027	0.0088	0.0085	0.0096	0	0.0017	0	0	0	0	0.0003	0.0033	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.175	0.88760	M	-0.77	0.73523	T	-7.5	0.95045	D	0.888	0.88687	0.272	0.87110	D	0.542	0.83108	D	10	0.01650852	0.00348	T	.	.	.	0.808	0.93777	.	.	0.898119543785	0.89710	0.7001828903545003	0.69959	0.758343657554	0.64120	0.545608282089	0.45238	T	0.512488	0.82792	D	0.033	0.56149	T	0.284308	0.87357	D	0.106504415603237	0.13058	T	0.891311	0.63049	D	0.82811403	0.85772	0.6405086	0.78998	0.82811403	0.85773	0.6405086	0.78999	-10.55	0.77998	D	.	.	0.422	0.69354	A	.;.;.;.	.;.;.;.	5.512783	0.91698	32	0.99929766071548276	0.99279	0.92559	0.55996	D	AEFDBCI	0.718048	0.66936	D	0.747330221356873	0.82729	7.835478	0.685632782837829	0.81289	7.491653	0.999999999999979	0.74766	0.685219	0.55550	0	0.61073	0.52368	0	0.674405	0.61402	0	0.604282	0.37693	0	.	.	5.01	5.01	0.66477	3.328000	0.51766	9.588000	0.81041	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	15.861	0.78806	887	0.27948	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005045	0.010204	0.009511	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	287.53	35	chr20	1313405	.	G	A	287.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.619;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=0.524;SOR=0.818	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1081	6	0	1	0
chr20	1479846	1479846	G	A	exonic	SIRPB2	.	nonsynonymous SNV	SIRPB2:NM_001122962:exon2:c.C305T:p.T102I	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	0.0043	0.00359425	0.0018	0.0163	0.0015	0	0	0.0005	0.0011	0.0001	0.0016041	248	154602	rs61732303	0.0007	0.0007	0.0007	0.0006	0.0129	0.0006	0.0006	0.0119	0.0115	0.0129	0.0015	0.0005	0	0	0.0049	0.0003	0.0020	0.0002	0.0039	0.0039	0.0045	0.0033	0.0128	0.0036	0.0035	0.0119	0.0115	0.0128	0	0.0016	0.0003	0	0	0.0034	0.0004	0.0028	0	0.068	0.35726	T	0.004	0.74150	D	0.855	0.47121	P	0.441	0.45749	B	0.973997	0.08139	N	0.985596	1	0.08975	N	3.06	0.86941	M	0.91	0.44856	T	-2.88	0.60507	D	0.293	0.33140	-1.0142	0.25593	T	0.067	0.27708	T	10	0.006865412	0.00156	T	.	.	.	0.070	0.20419	.	.	0.597483089494	0.59428	0.18382480181484606	0.18301	0.27292665473	0.29804	0.458066672087	0.33045	T	0.006609	0.06037	T	-0.547348	0.00303	T	-0.547328	0.17582	T	0.0725343779887123	0.09002	T	0.386161	0.09499	T	0.05641881	0.11096	0.11047982	0.26639	0.05641881	0.11095	0.11047982	0.26639	-4.849	0.35157	T	.	.	0.101	0.17530	B	.	.	1.597101	0.20419	14.74	0.99729661604406616	0.82690	0.02505	0.06995	N	AEFBI	.	.	.	-0.279350325364999	0.29946	1.665287	-0.457306757138337	0.23341	1.272414	0.999729641475076	0.42220	0.562547	0.31514	0	0.563428	0.19063	0	0.573888	0.23631	0	0.635551	0.53088	0	.	.	3.57	1.62	0.22817	0.155000	0.16180	0.444000	0.18454	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.437000	0.27605	0.2467:0.0:0.7533:0.0	5.719	0.17246	923	0.18507	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.025253	0.006793	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1026.44	34	chr20	1479846	.	G	A	1026.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.567;DP=262;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.04;ReadPosRankSum=0.089;SOR=0.768	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,117,1755	6	0	1	0
chr20	2102135	2102135	G	C	exonic	STK35	.	nonsynonymous SNV	STK35:NM_080836:exon1:c.G254C:p.G85A	.	442	1018	58	4	0	66	0.0313987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	.	0.00499201	0.0290	0	0.0312	0	.	0.0226	0	0.0336	0.0022509	348	154602	rs35569160	0.0093	0.0086	0.0090	0.0096	0.0207	0.0091	0.0091	0.0172	0.0168	0.0013	0.0037	0.0145	3.46e-05	0.0030	0.0207	0.0093	0.0106	0.0181	0.0065	0.0065	0.0067	0.0064	0.0183	0.0062	0.0061	0.0152	0.0140	0.0017	0.0022	0.0057	0.0130	0.0002	0.0028	0.0171	0.0096	0.0062	0.0183	0.969	0.02057	T	0.955	0.02582	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.20048	N	0.345	0.11182	N	-0.27	0.67367	T	-0.31	0.12099	N	0.087	0.06454	-1.0002	0.29860	T	0.088	0.33885	T	9	0.0032199621	0.00055	T	.	.	.	0.048	0.13305	.	.	0.550461726676	0.54703	0.16462568001023903	0.16382	1.13840482688	0.78847	0.568786382675	0.48506	T	0.003846	0.03252	T	-0.455329	0.01050	T	-0.411889	0.32008	T	0.0035260295607513	0.00037	T	0.478252	0.14398	T	0.026215747	0.01651	0.049031965	0.07407	0.026215747	0.01651	0.049031965	0.07407	-3.411	0.15204	T	.	.	0.065	0.01859	B	.	.	0.154691	0.05464	1.931	0.712979375028716	0.09582	0.12875	0.17532	N	ALL	0.041294	0.06258	N	-1.46821197340051	0.02078	0.09137222	-1.46390537359334	0.02646	0.1220965	0.999999999998893	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	3.98	-1.58	0.08029	-0.011000	0.12659	0.363000	0.17596	-0.212000	0.08331	0.000000	0.06391	0.226000	0.23749	0.044000	0.14658	0.4268:0.1785:0.3947:0.0	4.043	0.09242	806	0.43582	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001445	0.000000	0.000000	0.014286	0.100000	0.000000	0.000000	0.000000	0.08333	451.66	28	chr20	2102135	.	G	C	451.66	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.51;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=0.034;SOR=0.848	GT:AD:DP:GQ:PL	0/1:25,20:45:99:461,0,641	5	0	1	1
chr20	2340448	2340448	G	A	exonic	TGM3	.	nonsynonymous SNV	TGM3:NM_003245:exon13:c.G1949A:p.G650E	.	.	.	.	.	.	.	.	.	.	.	728570	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.100	.	0.0105	0.00998403	0.0027	0.0301	0.0008	0	0	3.004e-05	0.0022	0.0002	0.0026196	405	154602	rs114998364	0.0008	0.0008	0.0009	0.0007	0.0284	0.0007	0.0007	0.0269	0.0263	0.0284	0.0011	0	2.519e-05	0	0.0016	1.889e-05	0.0017	0.0001	0.0082	0.0082	0.0084	0.0080	0.0283	0.0078	0.0076	0.0270	0.0264	0.0283	0	0.0032	0	0	0	0.0034	4.411e-05	0.0066	0	0.844	0.02782	T	0.641	0.06948	T	0.001	0.07471	B	0.001	0.04355	B	0.101564	0.19833	N	0.526693	0.999933	0.19363	N	-0.245	0.03879	N	-0.16	0.65378	T	2.62	0.00206	N	0.059	0.03069	-1.0702	0.09370	T	0.019	0.08033	T	10	0.0034491122	0.00061	T	.	.	.	0.100	0.28662	.	.	0.504541157375	0.50091	0.42657059956302307	0.42574	0.115804812522	0.13064	0.349083721638	0.17788	T	0.048953	0.28165	T	-0.60318	0.00140	T	-0.616891	0.11431	T	0.00321796127623385	0.00034	T	0.040496	0.00282	T	0.14094916	0.32499	0.108201556	0.26060	0.203429	0.42420	0.11596556	0.27994	-3.936	0.22843	T	.	.	0.104	0.18910	B	.	.	0.784901	0.11551	8.146	0.76941293602123317	0.11671	0.13561	0.17926	N	AEFDBHCI	0.138911	0.26034	N	-0.976914747359522	0.09099	0.4292231	-0.856347705191023	0.13135	0.6797408	0.0146580962274902	0.12622	0.533608	0.22052	0	0.615948	0.52940	0	0.685742	0.62368	0	0.542086	0.14980	0	.	.	4.68	3.74	0.42108	0.463000	0.21683	2.136000	0.30812	0.671000	0.69459	0.001000	0.13787	0.461000	0.25002	0.381000	0.26357	0.1016:0.0:0.8984:0.0	8.871	0.34474	929	0.16858	Transglutaminase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	111.44	34	chr20	2340448	.	G	A	111.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.383;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.57;ReadPosRankSum=1.38;SOR=0.707	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1117	6	0	1	0
chr20	2403590	2403590	G	A	exonic	TGM6	.	nonsynonymous SNV	TGM6:NM_001254734:exon9:c.G1103A:p.R368Q,TGM6:NM_198994:exon9:c.G1103A:p.R368Q	Spinocerebellar ataxia 35, Autosomal dominant	1	1517	3	1	0	5	0.00164528	.	.	.	349758	not_provided|not_specified|Spinocerebellar_ataxia_type_35	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013485,MedGen:C3888031,OMIM:613908,Orphanet:276193	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.206	.	0.0075	0.0133786	0.0032	0.0239	0.0017	0.0115	0	8.997e-05	0	0.0007	0.003163	489	154602	rs75122556	0.0009	0.0009	0.0010	0.0009	0.0222	0.0009	0.0009	0.0209	0.0203	0.0222	0.0019	0	0.0076	0	0.0007	5.665e-05	0.0022	0.0006	0.0070	0.0071	0.0071	0.0070	0.0229	0.0067	0.0066	0.0217	0.0212	0.0229	0	0.0024	0	0.0104	0	0	0.0001	0.0071	0.0008	0.398	0.11659	T	0.353	0.17320	T	0.022	0.21002	B	0.003	0.11217	B	0.001770	0.38052	N	0.270437	0.756463	0.29584	N	0.26	0.09897	N	-3.73	0.95458	D	0.49	0.02993	N	0.093	0.07811	-0.4446	0.70578	T	0.318	0.68761	T	10	0.0069358647	0.00158	T	.	.	.	0.206	0.49396	.	.	0.221734844693	0.21761	0.2327023895196038	0.23185	0.0953522573917	0.10770	0.201009258628	0.00487	T	0.005347	0.04800	T	-0.398353	0.02374	T	-0.32673	0.41832	T	0.00711481055121195	0.00081	T	0.664534	0.28129	T	0.028691167	0.02245	0.03600445	0.02962	0.04179724	0.06221	0.030356066	0.01481	-3.811	0.22993	T	0.06575249398404066	0.02192	0.064	0.01715	B	.;.	.;.	1.269257	0.16678	12.69	0.96299483521206242	0.29341	0.85433	0.44565	D	AEFDBI	0.330806	0.43073	N	-0.899479740012878	0.10854	0.5208024	-0.773329834243252	0.15150	0.7953485	1.27180578105009E-4	0.05386	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.9	-1.07	0.09459	0.987000	0.29203	0.744000	0.21184	-0.186000	0.09761	0.994000	0.38300	0.993000	0.31925	0.243000	0.23080	0.4689:0.0:0.5311:0.0	9.761	0.39697	816	0.41767	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.003788	0.07143	67.44	34	chr20	2403590	.	G	A	67.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.319;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.86;ReadPosRankSum=0.674;SOR=0.916	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1132	6	0	1	0
chr20	2403613	2403613	G	A	exonic	TGM6	.	nonsynonymous SNV	TGM6:NM_001254734:exon9:c.G1126A:p.A376T,TGM6:NM_198994:exon9:c.G1126A:p.A376T	Spinocerebellar ataxia 35, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	344791	not_specified|Spinocerebellar_ataxia_type_35|not_provided	MedGen:CN169374|MONDO:MONDO:0013485,MedGen:C3888031,OMIM:613908,Orphanet:276193|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.813	.	0.0074	0.0113818	0.0022	0.0237	0.0016	0	0	0.0001	0	0	0.0023156	358	154602	rs79724097	0.0007	0.0007	0.0008	0.0007	0.0223	0.0007	0.0007	0.0209	0.0204	0.0223	0.0019	0	5.038e-05	0	0.0003	0.0001	0.0017	0.0001	0.0067	0.0067	0.0067	0.0066	0.0230	0.0063	0.0062	0.0218	0.0213	0.0230	0	0.0023	0	0	0	0	0.0002	0.0071	0.0002	0.002	0.78490	D	0.003	0.76473	D	0.998	0.73220	D	0.759	0.65636	P	0.000000	0.84330	D	0.000000	0.999989	0.54805	D	3.885	0.96017	H	-4.14	0.96772	D	-3.61	0.69477	D	0.828	0.82660	0.574	0.91561	D	0.864	0.95462	D	10	0.01764837	0.00378	T	.	.	.	0.813	0.93969	.	.	0.565096191312	0.56172	0.5627432429458633	0.56201	0.384607151373	0.39759	0.590253710747	0.51530	T	0.383502	0.74534	T	-0.112528	0.34352	T	0.0838379	0.75834	D	0.0626543107975023	0.07580	T	0.727427	0.34191	T	0.5669051	0.70890	0.5346674	0.73111	0.5421629	0.69518	0.53069574	0.72884	-11.25	0.81011	D	0.8082521512885468	0.88371	0.784	0.76551	P	.;.	.;.	4.811250	0.78275	26.9	0.99895662336143853	0.96895	0.99297	0.94124	D	AEFDBI	0.906753	0.85992	D	0.80202748487899	0.86232	8.819951	0.686618659428538	0.81363	7.508883	0.999998448629931	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.9	4.9	0.63643	9.999000	0.99362	9.891000	0.82274	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.021000	0.11733	0.0:0.0:1.0:0.0	16.019	0.80264	816	0.41767	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.003788	0.07143	64.44	34	chr20	2403613	.	G	A	64.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.036;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=1.65;SOR=1.179	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1132	6	0	1	0
chr20	2838448	2838448	C	T	exonic	PCED1A	.	nonsynonymous SNV	PCED1A:NM_001271168:exon6:c.G472A:p.D158N,PCED1A:NM_022760:exon6:c.G625A:p.D209N	.	429	1091	2	0	0	2	0.000915751	.	.	.	2677070	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.194	0.0285659039809	0.0002	.	8.242e-05	0	8.637e-05	0	0	0.0001	0	0.0001	6.47e-05	10	154602	rs375175326	4.994e-05	4.994e-05	5.036e-05	4.95e-05	0.0036	4.059e-05	3.734e-05	0.0024	0.0020	0	6.708e-05	0	0	0	0.0036	3.147e-05	0.0001	8.115e-05	1.97e-05	1.97e-05	0	4.034e-05	4.409e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.098	0.32141	T	0.007	0.69154	D	0.97	0.56973	D	0.818	0.58969	P	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	2.425	0.70256	M	2.33	0.16492	T	-3.21	0.66780	D	0.716	0.73645	-1.0676	0.09948	T	0.093	0.35309	T	10	0.36392272	0.52950	T	0.028566	0.51224	D	0.194	0.47447	.	.	0.621786299428	0.61872	0.8416623808912245	0.84126	0.569153236508	0.53102	0.60020339489	0.52933	T	0.217107	0.57946	T	-0.352078	0.04597	T	-0.506844	0.21639	T	0.335616052150726	0.26449	T	0.361264	0.17009	T	0.5956392	0.72456	0.29347497	0.55376	0.5956392	0.72457	0.29347497	0.55375	-7.587	0.58220	D	.	.	0.381	0.63773	A	.;.;.;.	.;.;.;.	4.740484	0.76438	26.5	0.99864174133836692	0.94276	0.93977	0.59744	D	ALL	0.789981	0.71901	D	0.609553433519837	0.73779	6.022059	0.581043060855284	0.73581	5.993995	0.999999998449142	0.74766	0.741868	0.97996	0	0.774882	0.99574	0	0.693144	0.63139	0	0.714379	0.83352	0	.	.	4.14	4.14	0.47821	4.865000	0.62695	3.850000	0.40084	0.587000	0.30956	1.000000	0.71638	0.999000	0.35428	0.997000	0.79791	0.0:1.0:0.0:0.0	14.293	0.65842	470	0.78111	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.007576	0.07143	2062.49	34	chr20	2838448	.	C	T	2062.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.109;DP=322;ExcessHet=0;FS=0.618;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-0.087;SOR=0.597	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1081	6	0	1	0
chr20	2861809	2861809	G	A	exonic	VPS16	.	nonsynonymous SNV	VPS16:NM_022575:exon10:c.G904A:p.V302M	.	433	1078	10	1	0	12	0.00553506	.	.	.	2339359	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.065	0.0128958025511	0.0004	.	0.0005	0	0.0007	0	0.0002	0.0007	0	0.0002	0.000414	64	154602	rs149546324	0.0003	0.0003	0.0002	0.0003	0.0055	0.0003	0.0002	0.0040	0.0035	0.0002	0.0005	0.0018	2.519e-05	3.745e-05	0.0055	0.0002	0.0006	0.0002	0.0003	0.0003	0.0003	0.0003	0.0006	0.0003	0.0002	0.0004	0.0003	2.406e-05	0	0.0005	0.0012	0	9.413e-05	0.0034	0.0005	0.0005	0.0006	0.043	0.41364	D	0.246	0.35710	T	0.786	0.44460	P	0.397	0.44399	B	0.002422	0.36574	N	0.257891	1	0.81001	D	0.345	0.11182	N	0.96	0.42888	T	-0.28	0.11547	N	0.558	0.58287	-1.0672	0.10039	T	0.101	0.37417	T	10	0.081829876	0.13440	T	0.012896	0.31871	T	0.065	0.18881	.	.	0.530409124356	0.52689	0.3436051846622735	0.34274	0.506917308201	0.48884	0.79377669096	0.81017	T	0.044898	0.26958	T	-0.296419	0.09003	T	-0.311843	0.43460	T	0.0203691348433495	0.00737	T	0.89931	0.65680	D	0.08534625	0.19792	0.09743522	0.23193	0.08534625	0.19792	0.09743522	0.23193	-5.374	0.40669	T	.	.	0.190	0.48365	B	.;.	.;.	3.374506	0.46651	22.3	0.99285583659534349	0.58078	0.90624	0.51955	D	AEFDBI	0.338943	0.43625	N	0.285283146868049	0.55402	3.704286	0.37286356907823	0.59895	4.171624	0.0577910821183677	0.15105	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.34	5.34	0.75982	2.645000	0.46287	10.016000	0.83115	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	14.558	0.67708	475	0.77788	Vps16, N-terminal;Vps16, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004541	0.005051	0.004076	0.005848	0.000000	0.017241	0.006135	0.000000	0.07143	1171.53	33	chr20	2861809	.	G	A	1171.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.149;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=0.49;SOR=0.676	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,117,1755	6	0	1	0
chr20	3044759	3044759	G	A	exonic	GNRH2	.	nonsynonymous SNV	GNRH2:NM_001310220:exon3:c.G235A:p.D79N,GNRH2:NM_001501:exon3:c.G235A:p.D79N,GNRH2:NM_178331:exon3:c.G214A:p.D72N,GNRH2:NM_178332:exon3:c.G211A:p.D71N	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0163722285191	0.0005	0.000199681	0.0007	0	0.0006	0	0.0002	0.0008	0.0012	0.0016	0.0006209	96	154602	rs202126802	0.0006	0.0006	0.0006	0.0006	0.0013	0.0006	0.0006	0.0011	0.0010	5.981e-05	0.0010	0	2.521e-05	0.0003	0	0.0006	0.0011	0.0013	0.0006	0.0006	0.0006	0.0006	0.0017	0.0005	0.0005	0.0008	0.0006	7.216e-05	0	0.0011	0	0	0.0002	0	0.0008	0.0019	0.0017	0.139	0.25768	T	0.127	0.36233	T	0.122	0.34817	B	0.015	0.25678	B	0.463437	0.12363	N	0.660622	1	0.08975	N	0.695	0.17993	N	0.11	0.61208	T	-0.92	0.30555	N	0.126	0.16864	-1.0630	0.11021	T	0.077	0.30737	T	10	0.007763326	0.00176	T	0.016372	0.37594	T	0.015	0.02232	.	.	0.568643509186	0.56530	0.039110798245449024	0.03857	0.287694599158	0.31172	0.35451477766	0.18584	T	0.062664	0.31977	T	-0.582176	0.00187	T	-0.633659	0.10138	T	0.0139896461044978	0.00269	T	0.545645	0.18668	T	0.05016079	0.09019	0.031724498	0.01801	0.05016079	0.09018	0.031724498	0.01801	-4.571	0.32121	T	.	.	0.101	0.20663	B	.;.;.;.	.;.;.;.	2.719602	0.35566	19.93	0.99536018063877418	0.70212	0.09047	0.14879	N	AEFDBCI	0.038439	0.05440	N	-0.964434162145122	0.09371	0.44325	-1.04294563657306	0.08854	0.43743	0.999998289361931	0.74766	0.679555	0.55442	0	0.550933	0.16991	0	0.600882	0.32295	2	0.645665	0.59343	0	.	.	4.05	-0.856	0.10155	0.292000	0.18766	1.981000	0.30034	0.596000	0.33519	0.001000	0.13787	0.986000	0.30841	0.041000	0.14368	0.379:0.0:0.4195:0.2015	2.820	0.05133	830	0.39242	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	339.27	26	chr20	3044759	.	G	A	339.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.777;DP=177;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-0.156;SOR=0.738	GT:AD:DP:GQ:PL	0/0:35,0:35:96:0,96,1440	5	0	1	1
chr20	3045699	3045699	A	C	exonic	GNRH2	.	nonsynonymous SNV	GNRH2:NM_001310220:exon4:c.A326C:p.E109A,GNRH2:NM_001501:exon4:c.A326C:p.E109A,GNRH2:NM_178331:exon4:c.A305C:p.E102A,GNRH2:NM_178332:exon4:c.A302C:p.E101A	.	397	809	252	50	14	366	0.17868	.	.	.	2339291	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.063	0.0138574626857	.	0.000798722	0.0001	0	0	0.0010	0	4.743e-05	0	0.0001	0.0001921	5	26028	rs544846287	5.123e-05	5.205e-05	3.998e-05	6.257e-05	0.0006	4.175e-05	3.823e-05	0.0004	0.0003	0	0	0	0.0006	0	0.0002	3.186e-05	0.0001	9.37e-05	7.254e-05	7.228e-05	7.735e-05	6.751e-05	0.0012	3.985e-05	3.138e-05	0.0005	0.0004	0	0	0	0	0.0012	0	0	5.895e-05	0	0.0002	0.195	0.20759	T	0.31	0.19721	T	0.458	0.39147	P	0.292	0.47228	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	0.63	0.53302	T	-0.17	0.11008	N	0.072	0.06454	-1.0228	0.22802	T	0.073	0.29547	T	9	0.008035719	0.00182	T	0.013857	0.33577	T	0.063	0.18251	0.095	0.01241	0.340510301474	0.33666	0.019816559905803922	0.01934	0.273673405607	0.29866	0.443898946047	0.31109	T	0.031986	0.22285	T	-0.416888	0.01791	T	-0.437728	0.29063	T	0.0721061921995052	0.08943	T	0.349665	0.07767	T	0.033950143	0.03716	0.046167992	0.06374	0.033950143	0.03716	0.046167992	0.06373	-2.039	0.03759	T	.	.	0.095	0.17317	B	.;.;.;.	.;.;.;.	0.532157	0.09008	5.790	0.93995843531883583	0.24087	0.00435	0.02127	N	ALL	0.017947	0.00507	N	-0.983773490452446	0.08949	0.4216369	-1.12239259239604	0.07274	0.3531867	0.999999990720754	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.166054	0.03999	2	0.56214	0.19341	0	.	.	3.33	-1.95	0.07135	-1.042000	0.03649	-0.399000	0.09423	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.3505:0.3748:0.1611:0.1136	1.881	0.03033	840	0.37365	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.003788	0.07143	519.53	46	chr20	3045699	.	A	C	519.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.432;DP=223;ExcessHet=0;FS=2.55;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=-0.077;SOR=0.805	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1007	6	0	1	0
chr20	3147140	3147140	C	T	exonic	FASTKD5	.	nonsynonymous SNV	FASTKD5:NM_021826:exon2:c.G1931A:p.G644D	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00689433518507	.	.	1.653e-05	0	0	0.0001	0	0	0.0011	0	1.29e-05	2	154602	rs775270826	4.79e-06	4.788e-06	4.085e-06	5.502e-06	0.0003	1.99e-06	1.28e-06	6.092e-05	2.521e-05	0	0	3.826e-05	2.519e-05	0	0.0003	0	3.312e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.21634	T	0.133	0.34359	T	0.335	0.33330	B	0.08	0.28873	B	0.732012	0.06376	N	1.166430	0.999999	0.08975	N	1.59	0.40313	L	2.56	0.13673	T	-0.58	0.17417	N	0.28	0.31702	-0.9801	0.34979	T	0.025	0.10643	T	10	0.06204602	0.07873	T	0.006894	0.18233	T	0.026	0.05648	0.298	0.26362	0.283371740733	0.27958	0.19879321395370447	0.19796	0.112983469504	0.12758	0.276951730251	0.07071	T	0.011674	0.10383	T	-0.326194	0.06404	T	-0.537204	0.18572	T	0.0705643625953499	0.08729	T	0.453055	0.12870	T	0.027171291	0.01871	0.048263673	0.07130	0.027171291	0.01871	0.048263673	0.07129	-3.755	0.20134	T	.	.	0.106	0.19478	B	.	.	0.829365	0.12010	8.565	0.76846752808035657	0.11633	0.21200	0.21317	N	AEFDBCIJ	0.087895	0.17821	N	-0.53883606263718	0.20835	1.101342	-0.487206844504432	0.22504	1.222691	0.989384807984172	0.31809	0.736574	0.97449	0	0.697927	0.68747	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.56	2.59	0.30091	0.112000	0.15312	-0.557000	0.08497	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.601000	0.31412	0.0:0.4445:0.4675:0.088	8.842	0.34305	684	0.59539	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1429.53	33	chr20	3147140	.	C	T	1429.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.47;DP=308;ExcessHet=0;FS=9.485;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=0.362;SOR=0.957	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1163	6	0	1	0
chr20	3165904	3165904	C	T	exonic	LZTS3	.	nonsynonymous SNV	LZTS3:NM_001282533:exon4:c.G916A:p.G306S,LZTS3:NM_001365618:exon4:c.G916A:p.G306S,LZTS3:NM_001367609:exon4:c.G1006A:p.G336S	.	414	1054	49	5	0	59	0.0272266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	0.0019	0.00519169	0.0067	0.0006	0.0018	0	0.0007	0.0033	0.0050	0.0314	0.0054333	840	154602	rs140477946	0.0045	0.0044	0.0036	0.0054	0.0297	0.0044	0.0043	0.0288	0.0284	0.0005	0.0014	0.0007	2.52e-05	0.0008	0.0127	0.0030	0.0054	0.0297	0.0025	0.0025	0.0021	0.0030	0.0261	0.0023	0.0022	0.0224	0.0210	0.0006	0	0.0014	0.0009	0	0.0004	0.0034	0.0029	0.0043	0.0261	0.52	0.07259	T	0.373	0.16425	T	0.689	0.44725	P	0.111	0.41090	B	0.004405	0.33773	N	0.288136	0.56611	0.31217	N	1.04	0.26193	L	0.89	0.45636	T	-0.13	0.08971	N	0.349	0.46368	-1.0386	0.17740	T	0.047	0.20156	T	10	0.004008025	0.00077	T	.	.	.	0.072	0.21020	.	.	0.171220215726	0.16700	0.5876594097079127	0.58695	0.678647379448	0.59893	0.486045897007	0.36891	T	0.006359	0.05794	T	-0.470693	0.00841	T	-0.427265	0.30247	T	0.00899952433187727	0.00113	T	0.858514	0.54939	D	0.0542011	0.10366	0.062347006	0.12184	0.0542011	0.10365	0.062347006	0.12183	-4.464	0.30414	T	.	.	0.072	0.10400	B	.;.;.;.	.;.;.;.	3.087624	0.41560	21.4	0.99841557339104448	0.92229	0.96822	0.71126	D	AEFDBI	0.413603	0.48321	N	-0.0781342619656111	0.38352	2.244978	0.0820102447336558	0.43643	2.661935	0.999937307179673	0.46732	0.695654	0.57023	0	0.550933	0.16991	0	0.723109	0.80598	0	0.505526	0.08623	0	.	.	5.44	5.44	0.79348	1.929000	0.39744	7.620000	0.62269	0.589000	0.31548	0.999000	0.42656	1.000000	0.68203	0.931000	0.46843	0.0:0.792:0.0:0.208	7.086	0.24438	670	0.60992	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.000000	0.005435	0.011696	0.000000	0.043103	0.003049	0.034091	0.2143	2857.71	34	chr20	3165904	.	C	T	2857.71	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.24;DP=311;ExcessHet=0;FS=0.641;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=18.2;ReadPosRankSum=1.7;SOR=0.776	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,968	5	1	1	0
chr20	3690252	3690252	G	A	exonic	SIGLEC1	.	nonsynonymous SNV	SIGLEC1:NM_001367089:exon18:c.C4604T:p.T1535M,SIGLEC1:NM_023068:exon19:c.C4604T:p.T1535M	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	.	.	0.00379393	0.0063	0	0	0	0	0	0	0.0140	0.0008861	137	154602	rs369196280	0.0008	0.0008	0.0005	0.0011	0.0116	0.0007	0.0007	0.0110	0.0108	6.334e-05	0	0	2.8e-05	0	0.0002	7.617e-05	0.0010	0.0116	0.0004	0.0004	0.0002	0.0007	0.0126	0.0004	0.0003	0.0101	0.0092	9.621e-05	0	0	0	0	0	0	2.94e-05	0.0005	0.0126	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.001004	0.40652	N	0.000000	1	0.08975	N	2.625	0.76847	M	1.96	0.22270	T	-1.11	0.28703	N	0.128	0.12198	-1.0358	0.18606	T	0.118	0.41385	T	10	0.009257078	0.00209	T	.	.	.	0.096	0.27654	0.64	0.77687	0.344945010812	0.34105	0.29310788919704484	0.29223	0.155766135501	0.17579	0.358030825853	0.19098	T	0.136197	0.46843	T	-0.475865	0.00782	T	-0.446929	0.28035	T	0.1075565561975	0.13168	T	0.719828	0.33277	T	0.080765925	0.18523	0.16105928	0.37483	0.080765925	0.18522	0.16105928	0.37482	-5.635	0.43111	T	.	.	0.060	0.00890	B	.	.	1.879785	0.23878	16.19	0.99780171150277475	0.86693	0.04048	0.09492	N	AEFBI	0.119452	0.23313	N	-0.154313998560267	0.35050	2.00847	-0.366061476850114	0.26016	1.434376	0.00544930785655439	0.10940	0.403107	0.06075	0	0.547309	0.14657	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	5.48	1.37	0.21200	-0.170000	0.09886	-0.512000	0.08740	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.915000	0.45038	0.3334:0.0:0.6666:0.0	7.699	0.27779	716	0.55970	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003747	0.000000	0.000000	0.000000	0.000000	0.009804	0.006623	0.004065	0.07143	831.49	27	chr20	3690252	.	G	A	831.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.422;DP=238;ExcessHet=0;FS=3.42;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-0.013;SOR=0.38	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1611	6	0	1	0
chr20	3752147	3752147	T	C	exonic	HSPA12B	.	nonsynonymous SNV	HSPA12B:NM_001318322:exon12:c.T1784C:p.I595T,HSPA12B:NM_001197327:exon13:c.T2039C:p.I680T,HSPA12B:NM_052970:exon13:c.T2042C:p.I681T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.558	0.145545449426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.296e-06	2.736e-06	1.496e-06	3.135e-06	2.872e-06	6.1e-07	1.7e-07	7.7e-07	2.1e-07	0	0	0	0	0	0	2.872e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.61	0.76335	M	1.32	0.50721	T	-3.68	0.70674	D	0.878	0.87917	-0.5952	0.65012	T	0.263	0.63372	T	10	0.88441616	0.87763	D	0.145545	0.82773	D	0.558	0.81831	0.772	0.89846	0.826316784904	0.82467	0.8306387228874841	0.83022	2.01999695743	0.93996	0.724379897118	0.70686	T	0.200235	0.55776	T	0.285259	0.81761	D	0.171978	0.81526	D	0.995428522012175	0.87398	D	0.976502	0.91818	D	0.57211274	0.71176	0.49937007	0.71055	0.57211274	0.71178	0.49937007	0.71056	-12.225	0.85930	D	.	.	0.948	0.87578	P	.;.	.;.	4.982410	0.82536	27.8	0.99758199885016519	0.84851	0.95654	0.65592	D	AEFDBHCIJ	0.920692	0.89306	D	0.700704685378741	0.79678	7.128751	0.686458282789235	0.81351	7.506103	0.999999999993154	0.74766	0.646311	0.45356	0	0.552344	0.17405	0	0.64067	0.45733	0	0.699875	0.68795	0	.	.	5.37	5.37	0.76949	7.270000	0.77886	7.846000	0.70742	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	13.323	0.59883	789	0.46346	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	41	chr20	3752147	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,112,1390	6	1	0	0
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R,CDC25B:NM_001287518:exon12:c.G1069C:p.G357R,CDC25B:NM_001287522:exon12:c.G883C:p.G295R,CDC25B:NM_021872:exon12:c.G1219C:p.G407R,CDC25B:NM_001287516:exon13:c.G1150C:p.G384R,CDC25B:NM_001287517:exon13:c.G1108C:p.G370R,CDC25B:NM_001287519:exon13:c.G1006C:p.G336R,CDC25B:NM_001287520:exon13:c.G1006C:p.G336R,CDC25B:NM_004358:exon13:c.G1300C:p.G434R,CDC25B:NM_021873:exon13:c.G1342C:p.G448R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.774	0.123202022054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0011	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0006	0	0.0002	7.607e-05	0	0.0002	0.0008	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.085	0.87354	M	1.81	0.25182	T	-7.58	0.95276	D	0.931	0.98268	-0.6717	0.61752	T	0.200	0.55640	T	10	0.98157537	0.98189	D	0.123202	0.80433	D	0.774	0.92419	0.92	0.98568	0.736929849786	0.73457	0.9132364924811667	0.91297	2.14713465814	0.95289	0.696103453636	0.66582	T	0.201973	0.83660	T	0.280949	0.81396	D	0.165788	0.81157	D	0.999002754688263	0.95858	D	0.989968	0.96869	D	0.92810935	0.94047	0.8602535	0.92196	0.92810935	0.94048	0.8602535	0.92197	-11.248	0.81537	D	.	.	0.994	0.95995	P	.;.;.;.;.	.;.;.;.;.	5.603180	0.92472	32	0.99900572155913103	0.97275	0.97177	0.73143	D	AEFGBCI	0.864053	0.78274	D	0.851518238386656	0.89196	9.872593	0.791774268680612	0.89217	9.884684	0.999999999996727	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.420000	0.79394	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	16.698	0.85199	809	0.43032	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	869.31	70	chr20	3803192	.	G	C	869.31	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-1.474;DP=561;ExcessHet=3.1439;FS=207.23;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.22;ReadPosRankSum=1.8;SOR=10.505	GT:AD:DP:GQ:PL	0/1:70,40:122:99:162,0,999	1	0	4	2
chr20	4699380	4699380	G	A	exonic	PRNP	.	nonsynonymous SNV	PRNP:NM_000311:exon2:c.G160A:p.G54S,PRNP:NM_001080121:exon2:c.G160A:p.G54S,PRNP:NM_001080122:exon2:c.G160A:p.G54S,PRNP:NM_001080123:exon2:c.G160A:p.G54S,PRNP:NM_001271561:exon2:c.G71A:p.R24Q,PRNP:NM_183079:exon2:c.G160A:p.G54S	Cerebral amyloid angiopathy, PRNP-related, Autosomal dominant;Creutzfeldt-Jakob disease, Autosomal dominant;Gerstmann-Straussler disease, Autosomal dominant;Huntington disease-like 1, Autosomal dominant;Insomnia, fatal familial, Autosomal dominant;Prion disease with protracted course, Autosomal dominant	7	1485	22	1	7	31	0.00801603	.	.	YES	345429	not_provided|Inherited_prion_disease|Huntington_disease-like_1	MedGen:C3661900|MedGen:C5679775,Orphanet:280400|MONDO:MONDO:0011299,MedGen:C1864112,OMIM:603218,Orphanet:157941	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.578	0.276315076928	.	.	0.0007	0	8.697e-05	0	0	0.0001	0.0022	0.0041	0.0005175	80	154602	rs763524380	0.0004	0.0004	0.0003	0.0006	0.0042	0.0004	0.0004	0.0038	0.0037	0	8.973e-05	0	0	3.753e-05	0.0032	0.0002	0.0008	0.0042	0.0002	0.0002	0.0001	0.0003	0.0027	0.0001	0.0001	0.0016	0.0013	2.416e-05	0	6.581e-05	0	0.0002	0	0.0034	0.0002	0.0009	0.0027	0.002	0.72154	D	0.003	0.76473	D	0.12	0.26678	B	0.086	0.29521	B	0.000002	0.62929	D	0.000000	0.851523	0.35231	D	.	.	.	-2.66	0.91533	D	-2.39	0.52612	N	0.627	0.64137	0.864	0.95202	D	0.793	0.92973	D	10	0.015181363	0.00319	T	0.276315	0.90068	D	0.578	0.82968	.	.	0.994981216392	0.99493	0.4151728927211903	0.41433	0.506295194007	0.48840	0.59368956089	0.52014	T	0.024639	0.18578	T	-0.0232946	0.48383	T	0.193755	0.82780	D	0.0497981607129204	0.05466	T	0.887611	0.81824	D	0.30855614	0.53660	0.32669327	0.58574	0.295937	0.52538	0.33873442	0.59647	-5.95	0.45859	T	0.2822885792093093	0.37778	0.107	0.20819	B	.;.;.;.	.;.;.;.	3.568541	0.50251	22.9	0.99748844167951156	0.84077	0.77247	0.37959	D	AEFDBCI	0.350790	0.44411	N	0.160477855790113	0.49309	3.132762	0.23940818324189	0.52048	3.382491	0.999995817831404	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	2.567000	0.45619	6.955000	0.57037	0.676000	0.76740	0.746000	0.29090	1.000000	0.68203	0.784000	0.37066	0.0:0.0:1.0:0.0	14.189	0.65167	946	0.12043	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.002717	0.002924	0.000000	0.000000	0.012195	0.000000	0.1429	2924.65	34	chr20	4699380	.	G	A	2924.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.67;DP=428;ExcessHet=0.3476;FS=2.505;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=0.088;SOR=0.892	GT:AD:DP:GQ:PL	0/0:125,0:125:99:0,120,1800	5	0	2	0
chr20	10408774	10408774	T	C	exonic	MKKS	.	nonsynonymous SNV	MKKS:NM_018848:exon4:c.A1015G:p.I339V,MKKS:NM_170784:exon4:c.A1015G:p.I339V	Bardet-Biedl syndrome 6, Autosomal recessive;McKusick-Kaufman syndrome, Autosomal recessive	3	1496	21	2	0	25	0.00828638	.	.	YES	106463	McKusick-Kaufman_syndrome|not_provided|Bardet-Biedl_syndrome_6|Bardet-Biedl_syndrome|not_specified	MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700,Orphanet:2473|MedGen:C3661900|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231,Orphanet:110|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.489	0.0291197997771	0.0030	0.00219649	0.0044	0.0002	0.0023	0	0.0063	0.0054	0.0044	0.0060	0.0042173	652	154602	rs137853909	0.0042	0.0042	0.0041	0.0043	0.0090	0.0041	0.0041	0.0071	0.0064	0.0005	0.0024	0.0023	2.521e-05	0.0081	0.0090	0.0043	0.0040	0.0056	0.0036	0.0036	0.0036	0.0036	0.0050	0.0034	0.0033	0.0046	0.0044	0.0004	0	0.0048	0.0029	0	0.0074	0.0102	0.0050	0.0057	0.0039	0.421	0.09806	T	0.821	0.03817	T	0.008	0.14655	B	0.042	0.24114	B	0.977114	0.07816	N	1.008790	0.999634	0.20820	N	0.575	0.15311	N	-1.3	0.79571	T	-0.52	0.16187	N	0.663	0.68950	-0.8682	0.50664	T	0.258	0.62823	T	10	0.009791404	0.00220	T	0.02912	0.51684	D	0.489	0.77656	.	.	0.455816718377	0.45207	0.266399546238906	0.26552	0.09311429178	0.10522	0.252166539431	0.03999	T	0.322819	0.69379	T	-0.28378	0.10270	T	-0.17528	0.56960	T	0.012114446485306	0.00193	T	0.593441	0.21910	T	0.02074044	0.00644	0.028641589	0.01119	0.020595802	0.00623	0.02819071	0.01033	-3.188	0.12334	T	0.09513167477338763	0.06441	0.064	0.01645	B	.;.	.;.	-0.691902	0.01340	0.074	0.63355510148389349	0.07202	0.08530	0.14447	N	AEFBI	0.132921	0.25241	N	-1.10111141240403	0.06624	0.3054509	-1.12856201002048	0.07158	0.3471643	0.999987309373211	0.51787	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.87	-4.87	0.02893	-1.552000	0.02280	-2.097000	0.04217	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.965000	0.52897	0.088:0.5145:0.0829:0.3146	7.534	0.26871	861	0.33516	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002525	0.000000	0.002717	0.000000	0.050000	0.000000	0.003067	0.011364	0.07143	1374.49	42	chr20	10408774	.	T	C	1374.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.416;DP=371;ExcessHet=0;FS=0.729;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=0.749;SOR=0.78	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	6	0	1	0
chr20	17615937	17615937	C	T	exonic	RRBP1	.	nonsynonymous SNV	RRBP1:NM_001365613:exon22:c.G3940A:p.E1314K,RRBP1:NM_004587:exon22:c.G2641A:p.E881K,RRBP1:NM_001042576:exon23:c.G2641A:p.E881K	.	422	1098	2	0	0	2	0.000909918	.	.	.	728549	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.244	.	0.0035	0.00119808	0.0022	0.0008	0.0005	0	0.0006	0.0033	0.0022	0.0013	0.0022057	341	154602	rs61737094	0.0034	0.0034	0.0033	0.0034	0.0037	0.0033	0.0032	0.0036	0.0036	0.0006	0.0014	0.0088	0	0.0013	0.0019	0.0037	0.0040	0.0019	0.0023	0.0023	0.0024	0.0023	0.0035	0.0021	0.0021	0.0032	0.0030	0.0006	0.0011	0.0027	0.0081	0	0.0003	0.0068	0.0035	0.0014	0.0023	0.004	0.65419	D	0.007	0.69154	D	0.999	0.77913	D	0.98	0.74843	D	0.468748	0.12304	N	0.647706	0.999924	0.51308	D	2.67	0.78151	M	1.37	0.34253	T	-2.33	0.57110	N	0.552	0.58798	-0.8385	0.52746	T	0.165	0.50193	T	10	0.006175071	0.00139	T	.	.	.	0.244	0.55061	.	.	0.561829309373	0.55845	0.3847270083835028	0.38387	0.29399669087	0.31818	0.573198795319	0.49129	T	0.212436	0.57349	T	-0.245814	0.14617	T	-0.125331	0.61362	T	0.0302078345630977	0.02022	T	0.966803	0.87909	D	0.13443677	0.31235	0.15530151	0.36410	0.13443677	0.31235	0.15530151	0.36409	-5.261	0.43596	T	.	.	0.117	0.34427	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.815741	0.55062	23.6	0.99847007873253357	0.92663	0.94878	0.62643	D	AEFDBHCIJ	0.671996	0.63855	D	0.547150339565503	0.69908	5.424436	0.530237805322109	0.70034	5.446262	0.999999999237497	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.17	5.17	0.70848	2.057000	0.40991	3.345000	0.37739	0.599000	0.40250	0.953000	0.33222	0.998000	0.33993	0.409000	0.26983	0.0:1.0:0.0:0.0	15.887	0.79041	878	0.29785	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004032	0.005051	0.006793	0.005848	0.000000	0.008621	0.000000	0.000000	0.07143	457.49	50	chr20	17615937	.	C	T	457.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.976;DP=229;ExcessHet=0;FS=1.065;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=1.59;SOR=0.88	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1273	6	0	1	0
chr20	20090941	20090941	G	A	exonic	CFAP61	.	nonsynonymous SNV	CFAP61:NM_001167816:exon6:c.G664A:p.A222T,CFAP61:NM_015585:exon7:c.G664A:p.A222T	.	422	1096	3	1	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.013518105666	0.0002	.	0.0003	0	0.0002	0	0	0.0005	0.0011	0	0.0002393	37	154602	rs146792381	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	5.974e-05	0.0004	0	0	1.872e-05	0.0002	0.0002	0.0001	1.159e-05	0.0001	0.0001	0.0001	0.0002	0.0003	9.153e-05	7.707e-05	0.0002	0.0001	0	0	0.0002	0	0	0	0	0.0003	0	0	0.011	0.55530	D	0.175	0.44702	T	0.981	0.90584	D	0.814	0.88582	P	0.000647	0.42656	D	0.201482	0.822055	0.81001	D	.	.	.	0.82	0.48142	T	-2.52	0.58407	D	0.543	0.57006	-0.8776	0.49950	T	0.218	0.58059	T	10	0.1480622	0.28044	T	0.013518	0.32986	T	0.259	0.57090	.	.	0.53689752714	0.53341	0.4230813361638134	0.42225	0.357954956601	0.37510	.	.	.	0.057215	0.30503	T	-0.26995	0.11763	T	-0.293477	0.45411	T	0.308653205633163	0.25359	T	0.863414	0.55914	D	0.15955321	0.35835	0.1865814	0.41839	0.15955321	0.35835	0.1865814	0.41838	-11.228	0.80893	D	.	.	0.500	0.64563	A	.;.;.;.;.	.;.;.;.;.	4.167386	0.62634	24.5	0.99911172037449902	0.98022	0.82182	0.41449	D	AEFI	0.282084	0.39551	N	0.47783090523906	0.65799	4.868009	0.504099662640909	0.68267	5.196353	0.00261539642922808	0.09575	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.73	4.72	0.59248	2.063000	0.41049	9.797000	0.81675	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.997000	0.79791	0.0:0.1168:0.6585:0.2247	11.449	0.49385	844	0.36711	Cilia- and flagella-associated protein 61, N-terminal domain;.;Cilia- and flagella-associated protein 61, N-terminal domain;.;Cilia- and flagella-associated protein 61, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	50.44	40	chr20	20090941	.	G	A	50.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.21;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.04;ReadPosRankSum=-0.648;SOR=1.061	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1546	6	0	1	0
chr20	20196636	20196636	G	A	exonic	CFAP61	.	nonsynonymous SNV	CFAP61:NM_015585:exon16:c.G1657A:p.E553K	.	437	1051	34	0	0	34	0.0159176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	.	0.0012	0.00279553	0.0024	0.0004	0.0012	0	0.0003	0.0014	0.0044	0.0105	0.0020892	323	154602	rs116476718	0.0015	0.0015	0.0012	0.0017	0.0107	0.0014	0.0014	0.0101	0.0099	5.974e-05	0.0009	0.0006	2.519e-05	0.0002	0.0094	0.0009	0.0019	0.0107	0.0010	0.0010	0.0010	0.0011	0.0091	0.0009	0.0009	0.0070	0.0062	7.226e-05	0.0175	0.0005	0.0009	0	0.0002	0	0.0012	0.0014	0.0091	0.22	0.18956	T	0.127	0.35082	T	0.861	0.47410	P	0.138	0.33406	B	0.002156	0.37138	N	0.256129	0.997005	0.81001	D	.	.	.	2.9	0.10101	T	-2.15	0.48687	N	0.626	0.64052	-1.0291	0.20746	T	0.026	0.11043	T	10	0.008395076	0.00190	T	.	.	.	0.137	0.36984	.	.	0.286848849266	0.28300	0.5781481004799673	0.57743	0.206687281271	0.23104	.	.	.	0.062483	0.31927	T	-0.448646	0.01150	T	-0.409263	0.32310	T	0.0240949992989467	0.01157	T	0.820918	0.48005	T	0.20001093	0.41961	0.20091796	0.44046	0.20001093	0.41961	0.20091796	0.44045	-8.572	0.64904	D	.	.	0.137	0.29941	B	.	.	4.101623	0.61165	24.3	0.99823540842108671	0.90590	0.86271	0.45519	D	AEFDBCI	0.668236	0.63608	D	0.100793035679368	0.46499	2.889373	0.14371737324171	0.46809	2.920971	0.999966064506883	0.48965	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.83	4.86	0.62624	4.617000	0.60907	7.501000	0.59489	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.913000	0.44837	0.0:0.1295:0.8705:0.0	16.716	0.85256	705	0.57330	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.004076	0.002924	0.000000	0.017241	0.012195	0.011364	0.07143	1618.44	34	chr20	20196636	.	G	A	1618.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.995;DP=347;ExcessHet=0;FS=1.272;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.756;SOR=0.828	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1355	6	0	1	0
chr20	20601706	20601706	T	G	exonic	RALGAPA2	.	nonsynonymous SNV	RALGAPA2:NM_020343:exon16:c.A2179C:p.N727H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.339013224807	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1334234565	5.475e-06	5.472e-06	4.085e-06	6.879e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.158	0.31629	T	1.0	0.90584	D	0.979	0.74454	D	0.000000	0.84330	D	0.042894	0.960768	0.38198	D	2.015	0.55033	M	-3.6	0.95009	D	-2.91	0.60982	D	0.551	0.57690	1.008	0.97331	D	0.881	0.96052	D	10	0.4852583	0.60669	T	0.339013	0.91963	D	0.516	0.79340	0.207	0.12356	0.633743785003	0.63074	0.33373720564172843	0.33286	0.0837739893992	0.09445	0.469725608826	0.34642	T	0.038388	0.24821	T	0.112274	0.65587	D	-0.076502	0.65160	T	0.873881220817566	0.52374	D	0.935306	0.75759	D	0.33805072	0.56123	0.24302673	0.49737	0.33805072	0.56123	0.24302673	0.49736	-7.963	0.60817	D	.	.	0.183	0.41047	B	.;.	.;.	3.721848	0.53189	23.3	0.99608373120797589	0.74634	0.96982	0.72011	D	AEBI	0.680012	0.64385	D	0.475260225896916	0.65650	4.849167	0.388549526459795	0.60859	4.278314	0.988295093603393	0.31467	0.732398	0.92422	0	0.653731	0.59785	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.85	4.85	0.62375	6.148000	0.71557	6.185000	0.54687	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.127000	0.19450	0.0:0.0:0.0:1.0	14.727	0.68967	456	0.79013	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1055.53	35	chr20	20601706	.	T	G	1055.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.38;DP=239;ExcessHet=0;FS=0.877;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=1.21;SOR=0.56	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,984	6	0	1	0
chr20	21346525	21346525	G	C	exonic	XRN2	.	nonsynonymous SNV	XRN2:NM_001317960:exon17:c.G1874C:p.C625S,XRN2:NM_012255:exon17:c.G1640C:p.C547S	.	435	1068	17	2	0	21	0.00973574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.648	.	0.0036	0.00239617	0.0051	0.0011	0.0029	0	0.0116	0.0058	0.0066	0.0062	0.0046377	717	154602	rs150230004	0.0053	0.0053	0.0052	0.0053	0.0060	0.0052	0.0051	0.0056	0.0054	0.0009	0.0032	0.0028	0	0.0087	0.0035	0.0056	0.0039	0.0060	0.0040	0.0040	0.0038	0.0043	0.0070	0.0037	0.0036	0.0052	0.0046	0.0010	0.0033	0.0028	0.0029	0	0.0112	0.0102	0.0052	0.0019	0.0070	0.214	0.19361	T	0.011	0.64786	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.725	0.44537	L	-0.8	0.73845	T	-9.58	0.98511	D	0.908	0.90932	-0.3595	0.73278	T	0.437	0.77644	T	10	0.017083108	0.00363	T	.	.	.	0.648	0.86686	0.716	0.85141	0.659342747505	0.65648	0.8288596567162038	0.82843	1.12822586205	0.78511	0.867681622505	0.92235	D	0.302317	0.67472	T	0.0143757	0.53619	T	0.250902	0.85659	D	0.0658959289334676	0.08062	T	0.972803	0.90184	D	0.7349612	0.80005	0.8491353	0.91447	0.7349612	0.80006	0.8491353	0.91447	-5.837	0.44896	T	.	.	0.635	0.70325	P	.	.	5.183129	0.86912	29.1	0.9947290538958713	0.66419	0.99357	0.94965	D	AEFBI	0.961089	0.98218	D	0.756900345503115	0.83355	7.995523	0.79193093195718	0.89225	9.889148	0.99999999984852	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	9.570000	0.97330	11.807000	0.96822	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.349	0.98808	429	0.80881	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002530	0.010101	0.001362	0.005848	0.000000	0.000000	0.000000	0.003817	0.07143	923.53	34	chr20	21346525	.	G	C	923.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.33;DP=261;ExcessHet=0;FS=0.86;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.21;SOR=0.846	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1126	6	0	1	0
chr20	21396175	21396175	-	GGC	exonic	NKX2-4	.	nonframeshift insertion	NKX2-4:NM_033176:exon2:c.800_801insGCC:p.P270_S271insP	.	5	1514	2	0	1	3	0.000660066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0	0	0	0	0.0009	0.0075	0.0014	0.0002305	6	26028	rs758509573	0.0001	0.0001	0.0001	0.0002	0.0025	0.0001	0.0001	0.0014	0.0010	3.69e-05	7.714e-05	0.0009	0	0	0.0025	3.77e-05	0.0004	0.0013	9.224e-05	9.194e-05	6.445e-05	0.0001	0.0004	5.542e-05	4.376e-05	7.307e-05	3.346e-05	0	0	0.0001	0.0009	0	0	0	0.0001	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002092	0.000000	0.002899	0.000000	0.000000	0.000000	0.003205	0.000000	0.07143	109.4	35	chr20	21396175	.	A	AGGC	109.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.842;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=21.88;ReadPosRankSum=0.524;SOR=0.223	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	6	0	1	0
chr20	21705921	21705921	T	C	exonic	PAX1	.	nonsynonymous SNV	PAX1:NM_001257096:exon1:c.T209C:p.L70P,PAX1:NM_006192:exon1:c.T209C:p.L70P	.	426	1090	5	1	0	7	0.00320073	.	.	.	1423351	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.468	0.956588092515	.	.	.	.	.	.	.	.	.	.	.	.	.	rs940094103	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0002	0.0002	0.0002	3.846e-05	3.97e-05	4.52e-05	0	0	0.0008	0.0002	0.0002	1.41e-05	8.602e-05	8.546e-05	0.0001	6.774e-05	0.0002	4.99e-05	3.988e-05	0.0001	8.909e-05	0	0	0	0	0	0	0	0.0002	0	0	0.013	0.53900	D	0.03	0.54159	D	0.94	0.52768	P	0.462	0.46509	P	0.033802	0.01777	U	417.648000	0.996939	0.43515	D	0.975	0.24501	L	-4.44	0.97515	D	-0.7	0.19933	N	0.443	0.49237	0.349	0.88320	D	0.806	0.93446	D	10	0.46564645	0.59553	T	0.956588	0.99710	D	0.468	0.76289	0.232	0.16005	0.808538727171	0.80674	0.34999617027531577	0.34913	2.43300071254	0.97277	0.889742076397	0.95228	D	0.130192	0.45893	T	-0.0177838	0.49168	T	-0.00364263	0.70101	D	0.101468140719553	0.12518	T	0.438156	0.12052	T	0.1891644	0.40447	0.24258134	0.49682	0.1891644	0.40446	0.24258134	0.49681	-3.12	0.11527	T	0.09921965012675256	0.07183	0.070	0.03625	B	.;.	.;.	3.121722	0.42153	21.5	0.98165785844297748	0.38814	0.75882	0.37177	D	AEFDBHCI	0.180983	0.30830	N	-0.0554470039941605	0.39360	2.320	-0.0591354361419194	0.37098	2.167591	0.986475584795664	0.31070	0.59774	0.34471	0	0.59043	0.45803	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	4.1	2.83	0.32150	1.328000	0.33364	1.130000	0.24318	0.478000	0.22058	0.987000	0.36337	0.986000	0.30841	0.454000	0.27984	0.1864:0.0:0.1667:0.6469	4.943	0.13327	840	0.37365	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	123.83	10	chr20	21705921	.	T	C	123.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.19;DP=81;ExcessHet=0;FS=2.43;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-0.405;SOR=1.609	GT:AD:DP:GQ:PL	0/0:16,0:16:42:0,42,630	6	0	1	0
chr20	21714718	21714718	C	T	exonic	PAX1	.	nonsynonymous SNV	PAX1:NM_006192:exon5:c.C1520T:p.P507L	.	395	1077	48	2	0	52	0.0235721	.	.	.	364141	not_provided|PAX1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.182	.	0.0018	0.00579073	0.0053	0.0011	0.0011	0.0002	0.0039	0.0041	0.0062	0.0186	0.0045342	701	154602	rs138641387	0.0039	0.0039	0.0034	0.0043	0.0163	0.0038	0.0037	0.0156	0.0153	0.0010	0.0017	0.0034	2.52e-05	0.0033	0.0142	0.0032	0.0045	0.0163	0.0030	0.0030	0.0026	0.0034	0.0176	0.0028	0.0027	0.0146	0.0135	0.0008	0	0.0024	0.0043	0.0002	0.0021	0	0.0038	0.0033	0.0176	0.0	0.91255	D	0.022	0.57587	D	0.0	0.02946	B	0.001	0.04355	B	0.011199	0.01299	U	7.178110	1	0.08975	N	0.345	0.11182	N	-4.44	0.97515	D	0.07	0.06138	N	0.132	0.12770	-0.0346	0.81534	T	0.726	0.90629	D	10	0.00380221	0.00071	T	.	.	.	0.182	0.45420	.	.	0.102598925029	0.09809	0.11145458672258	0.11074	0.242934635108	0.26798	0.444064676762	0.31132	T	0.096141	0.39765	T	-0.279528	0.10718	T	-0.160673	0.58292	T	0.0399463750610996	0.03680	T	0.463454	0.13490	T	0.04237404	0.06414	0.066340074	0.13575	0.030930376	0.02842	0.05828784	0.10744	-4.016	0.24042	T	.	.	0.107	0.19998	B	.	.	0.544321	0.09130	5.912	0.99238866093083677	0.56469	0.13365	0.17815	N	AEFDBHCI	0.042710	0.06661	N	-1.11705786576021	0.06339	0.2915517	-1.19277271834668	0.06030	0.2890348	0.489217165147139	0.20848	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	3.15	-2.12	0.06766	0.158000	0.16239	0.191000	0.15744	-0.189000	0.09497	0.000000	0.06391	0.001000	0.17328	0.008000	0.08271	0.1724:0.2562:0.3389:0.2326	0.952	0.01292	855	0.34697	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013105	0.005102	0.004076	0.008772	0.000000	0.008621	0.012270	0.030303	0.07143	775.53	69	chr20	21714718	.	C	T	775.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.554;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=0.018;SOR=0.654	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1096	6	0	1	0
chr20	23085792	23085792	T	C	exonic	CD93	.	nonsynonymous SNV	CD93:NM_012072:exon1:c.A401G:p.N134S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00280635937484	.	0.000599042	0.0004	0	0	0	0	0.0002	0	0.0021	0.000304	47	154602	rs527569700	0.0002	0.0002	0.0001	0.0002	0.0015	0.0001	0.0001	0.0013	0.0012	0	0	0	0	0	0.0005	7.915e-05	0.0002	0.0015	0.0001	0.0001	9.002e-05	0.0001	0.0015	7.58e-05	6.284e-05	0.0007	0.0005	0	0	0	0	0	0	0	0.0001	0.0005	0.0015	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.002	0.06944	B	0.888146	0.07278	N	1.050840	1	0.08975	N	-0.02	0.05091	N	2.18	0.18875	T	0.11	0.05706	N	0.045	0.01740	-0.9506	0.40868	T	0.024	0.10419	T	10	0.006688416	0.00152	T	0.002806	0.05840	T	0.034	0.08419	.	.	0.209622950755	0.20551	0.17532318483375042	0.17451	0.0604135776628	0.06713	0.359892547131	0.19369	T	0.053774	0.29538	T	-0.759809	0.00015	T	-0.87742	0.00676	T	0.0247528697894958	0.01240	T	0.510949	0.16331	T	0.024855565	0.01359	0.023819963	0.00395	0.024855565	0.01359	0.023819963	0.00395	-2.131	0.03719	T	.	.	0.059	0.00730	B	.	.	-1.650584	0.00216	0.003	0.48227415200710261	0.04007	0.03510	0.08688	N	AEFDBCIJ	0.072732	0.14526	N	-1.59872598363266	0.01270	0.05530257	-1.62559588686055	0.01507	0.06823106	0.999998923881084	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.56214	0.19341	0	.	.	5.49	-5.46	0.02404	-3.674000	0.00445	-11.424000	0.00606	-1.520000	0.01005	0.000000	0.06391	0.000000	0.08366	0.401000	0.26804	0.0977:0.3133:0.179:0.41	2.761	0.04980	892	0.26670	C-type lectin-like|C-type lectin-like|C-type lectin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	672.53	21	chr20	23085792	.	T	C	672.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.238;DP=221;ExcessHet=0;FS=3.885;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-2.568;SOR=1.364	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,108,1620	6	0	1	0
chr20	23364697	23364697	G	A	exonic	GZF1	.	nonsynonymous SNV	GZF1:NM_001317019:exon1:c.G314A:p.R105Q,GZF1:NM_022482:exon2:c.G314A:p.R105Q,GZF1:NM_001317012:exon3:c.G314A:p.R105Q	.	.	.	.	.	.	.	.	.	.	.	1479835	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.138	0.0649592010332	.	.	9.062e-05	0	0.0002	0.0001	0	1.499e-05	0	0.0004	7.12e-05	11	154602	rs749264121	2.599e-05	2.599e-05	9.529e-06	4.263e-05	0.0004	1.932e-05	1.692e-05	0.0003	0.0002	0	6.708e-05	0	0	0	0	8.993e-07	1.656e-05	0.0004	3.281e-05	3.281e-05	1.284e-05	5.368e-05	0.0006	1.26e-05	7.97e-06	0.0002	8.992e-05	0	0	6.535e-05	0	0.0002	0	0	0	0	0.0006	0.019	0.50132	D	0.014	0.62352	D	0.233	0.30696	B	0.035	0.22741	B	0.000055	0.53742	D	0.000000	1	0.81001	D	0.265	0.09922	N	-0.22	0.66474	T	-1.29	0.32387	N	0.573	0.60918	-0.8932	0.48650	T	0.132	0.44288	T	10	0.21139255	0.37565	T	0.064959	0.69436	D	0.138	0.37187	0.446	0.50466	0.62768934338	0.62464	0.5573782407134409	0.55664	1.61574220227	0.89002	0.450717389584	0.32042	T	0.115756	0.43459	T	-0.23985	0.15368	T	-0.28198	0.46601	T	0.121569046139116	0.14582	T	0.877812	0.59215	D	0.3945648	0.60354	0.24000685	0.49364	0.3945648	0.60355	0.24000685	0.49363	-5.261	0.39556	T	.	.	0.266	0.50073	B	.;.	.;.	4.811294	0.78275	26.9	0.99942031834897926	0.99824	0.83454	0.42570	D	AEFBCI	0.152943	0.27771	N	-0.428909340733433	0.24461	1.320908	-0.274790836674387	0.28932	1.616964	0.999998058863805	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.662433	0.64102	0	.	.	5.33	4.39	0.52211	3.384000	0.52216	9.948000	0.82707	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.710000	0.34452	0.0775:0.0:0.9225:0.0	13.046	0.58337	606	0.67383	BTB/POZ domain|BTB/POZ domain;BTB/POZ domain|BTB/POZ domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1619.46	37	chr20	23364697	.	G	A	1619.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.171;DP=311;ExcessHet=0;FS=0.688;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=0.952;SOR=0.785	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,117,1389	6	0	1	0
chr20	23605827	23605827	G	T	exonic	CST9	.	nonsynonymous SNV	CST9:NM_001008693:exon1:c.C38A:p.A13E	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.00358455784618	.	.	8.241e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs775403422	2.736e-06	2.736e-06	1.361e-06	4.125e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.092	0.39954	T	0.989	0.62824	D	0.737	0.55577	P	0.222531	0.03465	N	1.909150	1	0.08975	N	1.445	0.36358	L	2.11	0.19860	T	-1.25	0.31576	N	0.554	0.57946	-1.0590	0.12007	T	0.060	0.24981	T	10	0.5086652	0.61968	D	0.003585	0.08185	T	0.114	0.32008	0.524	0.62818	0.272205846399	0.26826	0.21780489820823143	0.21696	0.27160334723	0.29678	0.294348865747	0.09561	T	0.012558	0.11015	T	-0.162898	0.26314	T	-0.471768	0.25325	T	0.732875823974609	0.42359	D	0.448055	0.12582	T	0.10893195	0.25753	0.19438243	0.43059	0.10893195	0.25753	0.19438243	0.43058	-5.419	0.41102	T	.	.	0.403	0.59760	A	.	.	1.286532	0.16869	12.81	0.96870925834237076	0.31419	0.03696	0.08973	N	AEFBI	0.024966	0.01631	N	-0.434418156242739	0.24271	1.309358	-0.638098500705122	0.18518	0.9895779	5.48498120375925E-4	0.07273	0.446893	0.09132	0	0.547309	0.14657	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	3.27	0.071	0.13693	0.002000	0.12962	-0.205000	0.10907	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.255:0.2656:0.4793:0.0	3.559	0.07430	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1293.49	36	chr20	23605827	.	G	T	1293.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.1;DP=301;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-1.558;SOR=0.703	GT:AD:DP:GQ:PL	0/1:59,52:111:99:1304,0,1389	6	0	1	0
chr20	25206588	25206588	C	A	exonic	ENTPD6	.	nonsynonymous SNV	ENTPD6:NM_001247:exon2:c.C52A:p.Q18K,ENTPD6:NM_001317941:exon2:c.C52A:p.Q18K,ENTPD6:NM_001322378:exon2:c.C52A:p.Q18K,ENTPD6:NM_001322387:exon2:c.C52A:p.Q18K,ENTPD6:NM_001322388:exon2:c.C52A:p.Q18K,ENTPD6:NM_001322391:exon2:c.C52A:p.Q18K,ENTPD6:NM_001322396:exon2:c.C52A:p.Q18K,ENTPD6:NM_001322397:exon2:c.C52A:p.Q18K,ENTPD6:NM_001322390:exon3:c.C52A:p.Q18K	.	434	1076	12	0	0	12	0.00554529	0.0001	0.044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00154518060662	0.0018	0.000998403	0.0018	0.0006	0.0016	0	0.0002	0.0025	0.0033	0.0015	0.0017335	268	154602	rs142436071	0.0024	0.0024	0.0024	0.0024	0.0113	0.0023	0.0023	0.0091	0.0083	0.0004	0.0017	0.0011	0	0.0003	0.0113	0.0028	0.0019	0.0014	0.0017	0.0017	0.0019	0.0016	0.0027	0.0015	0.0015	0.0024	0.0023	0.0005	0	0.0024	0.0006	0	9.429e-05	0.0102	0.0027	0.0033	0.0017	0.0	0.91255	D	0.0	0.92824	D	0.039	0.23653	B	0.007	0.14941	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.34	0.29085	T	-0.13	0.10833	N	0.138	0.19325	-1.0299	0.20487	T	0.036	0.15378	T	9	0.0042662323	0.00118	T	0.001545	0.02420	T	0.005	0.00259	.	.	0.211220785272	0.20719	0.5641229491177078	0.56339	0.315935312986	0.33867	0.221197679639	0.01380	T	0.004456	0.07043	T	-0.519268	0.00444	T	-0.522033	0.20088	T	0.00337945774278404	0.00036	T	0.329867	0.16498	T	0.10089398	0.23828	0.08641608	0.20019	0.10089398	0.23828	0.08641608	0.20018	-3.495	0.21584	T	.	.	0.098	0.19800	B	.;.;.;.;.	.;.;.;.;.	1.649775	0.21048	15.03	0.93274077507072517	0.22974	0.06979	0.13005	N	AEFBI	0.060803	0.11579	N	-1.00520981857911	0.08495	0.3985275	-1.06970966526179	0.08301	0.407564	0.787210830464035	0.23951	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	2.75	0.621	0.16817	0.195000	0.16960	0.253000	0.16451	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.082000	0.17360	0.0:0.581:0.2552:0.1638	3.672	0.07811	662	0.61715	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.005051	0.005435	0.017544	0.000000	0.000000	0.015244	0.003788	0.07143	336.63	39	chr20	25206588	.	C	A	336.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.584;DP=226;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.02;ReadPosRankSum=0.578;SOR=0.607	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	6	0	1	0
chr20	25248348	25248348	C	G	exonic	PYGB	.	nonsynonymous SNV	PYGB:NM_002862:exon1:c.C170G:p.A57G	.	0	1521	1	0	0	1	0.000328623	.	.	.	728581	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.686	0.405744605782	0.0032	0.000199681	0.0026	0.0006	0.0004	0	0.0011	0.0043	0.0013	0.0003	0.0021669	335	154602	rs146966138	0.0040	0.0039	0.0041	0.0038	0.0047	0.0039	0.0038	0.0046	0.0046	0.0005	0.0008	0.0039	0	0.0006	0.0003	0.0047	0.0042	0.0010	0.0023	0.0023	0.0026	0.0020	0.0043	0.0021	0.0020	0.0039	0.0037	0.0006	0	0.0007	0.0046	0	0.0003	0	0.0043	0.0005	0.0008	0.02	0.49613	D	0.027	0.55341	D	0.982	0.60036	D	0.813	0.58748	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.205	0.89189	M	-1.39	0.80387	T	-3.3	0.65858	D	0.7	0.70439	0.351	0.88347	D	0.612	0.86250	D	10	0.056764275	0.06415	T	0.405745	0.93493	D	0.686	0.88538	.	.	0.910206990903	0.90931	0.638605930088369	0.63794	0.251932809198	0.27767	0.850661277771	0.89715	D	0.672337	0.90289	D	-0.156843	0.27248	T	0.00140893	0.70429	D	0.035500775179413	0.02894	T	0.985781	0.95172	D	0.8668135	0.88611	0.79448193	0.87924	0.8913007	0.90620	0.7797664	0.87016	-11.8	0.83863	D	0.388161421473586	0.48169	0.358	0.57104	A	.	.	5.126499	0.85775	28.7	0.99703541312497312	0.80798	0.96762	0.70803	D	ALL	0.907242	0.86102	D	0.691908476823768	0.79101	7.007417	0.635644353821385	0.77547	6.70022	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.1	4.1	0.47196	7.517000	0.80687	2.543000	0.33225	0.581000	0.30040	1.000000	0.71638	0.990000	0.31317	0.998000	0.85391	0.0:1.0:0.0:0.0	14.185	0.65143	619	0.66147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001013	0.005208	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.07143	1466.44	37	chr20	25248348	.	C	G	1466.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.88;DP=332;ExcessHet=0;FS=1.303;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=-0.484;SOR=0.549	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1002	6	0	1	0
chr20	31465511	31465511	C	T	exonic	DEFB124	.	nonsynonymous SNV	DEFB124:NM_001037500:exon2:c.G211A:p.E71K	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00255572939427	0.0005	0.000998403	0.0009	0.0004	0.0008	0	0	0.0009	0.0033	0.0020	0.0009056	140	154602	rs143786425	0.0010	0.0010	0.0009	0.0011	0.0020	0.0010	0.0009	0.0018	0.0017	8.962e-05	0.0010	0.0023	0	1.872e-05	0.0003	0.0010	0.0009	0.0020	0.0004	0.0004	0.0004	0.0004	0.0012	0.0003	0.0003	0.0005	0.0004	9.623e-05	0	0.0004	0.0023	0	0	0	0.0005	0.0005	0.0012	0.09	0.31987	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.041574	0.01894	N	2.353360	1	0.08975	N	.	.	.	2.81	0.10975	T	0.03	0.06612	N	0.186	0.20262	-0.9686	0.37489	T	0.021	0.08824	T	9	0.0066179335	0.00150	T	0.002556	0.05121	T	0.009	0.00846	.	.	0.0297737177859	0.01360	0.5472634709842789	0.54652	0.29552455342	0.31957	0.381278306246	0.22438	T	0.002521	0.01914	T	-0.639054	0.00084	T	-0.747081	0.03600	T	0.00445694115999005	0.00048	T	0.443756	0.12347	T	0.0329814	0.03426	0.03240459	0.01971	0.0329814	0.03426	0.03240459	0.01970	-3.363	0.14563	T	.	.	0.091	0.12891	B	.	.	1.225247	0.16193	12.38	0.99031213358282377	0.50808	0.01383	0.04707	N	AEFBI	0.033453	0.03969	N	-1.06834023482303	0.07232	0.3353589	-1.15848940369869	0.06616	0.3190833	3.41363343385773E-4	0.06626	0.497415	0.19182	0	0.547309	0.14657	0	0.59043	0.30614	0	0.613276	0.41899	0	.	.	3.87	-0.726	0.10606	-0.051000	0.11840	-0.692000	0.07835	-0.192000	0.09343	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2294:0.4027:0.0:0.3679	2.851	0.05217	619	0.66147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	354.49	30	chr20	31465511	.	C	T	354.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.054;DP=221;ExcessHet=0;FS=1.199;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.54;ReadPosRankSum=-0.786;SOR=1.022	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	6	0	1	0
chr20	32798578	32798578	C	T	exonic	DNMT3B	.	nonsynonymous SNV	DNMT3B:NM_001207056:exon12:c.C1321T:p.R441W,DNMT3B:NM_001207055:exon13:c.C1423T:p.R475W,DNMT3B:NM_175848:exon14:c.C1549T:p.R517W,DNMT3B:NM_175849:exon14:c.C1549T:p.R517W,DNMT3B:NM_175850:exon14:c.C1585T:p.R529W,DNMT3B:NM_006892:exon15:c.C1609T:p.R537W	Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1891713	Inborn_genetic_diseases|Centromeric_instability_of_chromosomes_1,9_and_16_and_immunodeficiency	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0000133,MedGen:C0398788,OMIM:PS242860,Orphanet:2268	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.355	0.101883154593	.	.	0.0001	0.0002	8.678e-05	0.0002	0	0	0	0.0005	9.7e-05	15	154602	rs771223602	3.899e-05	3.899e-05	2.314e-05	5.5e-05	0.0005	3.047e-05	2.783e-05	0.0004	0.0003	2.987e-05	0	0	5.038e-05	0	0	8.093e-06	4.967e-05	0.0005	5.906e-05	5.905e-05	2.569e-05	9.393e-05	0.0012	3.074e-05	2.208e-05	0.0005	0.0004	4.809e-05	0	0	0	0	0	0	1.47e-05	0	0.0012	0.04	0.43085	D	0.009	0.67890	D	0.005	0.17332	B	0.0	0.16460	B	0.000583	0.43095	N	0.234553	0.902827	0.81001	D	1.545	0.39105	L	-1.18	0.78314	T	-4.88	0.82896	D	0.256	0.30118	-0.5870	0.65340	T	0.300	0.67092	T	10	0.1764437	0.32629	T	0.101883	0.77503	D	0.355	0.67600	0.461	0.52916	0.622913199725	0.61985	0.6446323000219263	0.64398	0.806787862684	0.66515	0.256453156471	0.04477	T	0.654812	0.89569	D	-0.232769	0.16284	T	-0.261615	0.48664	T	0.229172105344398	0.21912	T	0.959904	0.84889	D	0.16801375	0.37233	0.15844123	0.37001	0.16801375	0.37233	0.15844123	0.37000	-9.99	0.75945	D	0.3308054707476536	0.42884	0.116	0.26357	B	.;.;.;.;.;.	.;.;.;.;.;.	4.071059	0.60485	24.2	0.99826776116471072	0.90939	0.75337	0.36882	D	AEFDBCI	0.598689	0.59199	D	-0.130956184463315	0.36049	2.078547	0.0222073977888595	0.40748	2.436825	0.999999848625029	0.74766	0.631515	0.41029	0	0.588015	0.36545	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.76	4.8	0.61157	1.761000	0.38070	1.826000	0.29078	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.768000	0.36443	0.1634:0.7485:0.0:0.088	7.444	0.26370	309	0.87553	ADD domain|DNA (cytosine-5)-methyltransferase 3B, ADD domain;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.010101	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	1263.53	37	chr20	32798578	.	C	T	1263.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.91;DP=258;ExcessHet=0;FS=6.981;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.86;ReadPosRankSum=2.2;SOR=1.111	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	6	0	1	0
chr20	33226957	33226957	G	T	exonic	BPIFA3	.	nonsynonymous SNV	BPIFA3:NM_001042439:exon5:c.G541T:p.G181W,BPIFA3:NM_178466:exon6:c.G649T:p.G217W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	.	0.00599042	0.0025	9.61e-05	8.637e-05	0.0333	0	0	0.0011	0.0005	0.0022703	351	154602	rs114904196	0.0008	0.0008	0.0008	0.0008	0.0277	0.0008	0.0008	0.0263	0.0258	5.974e-05	6.708e-05	0	0.0277	0	0.0002	6.295e-06	0.0015	0.0004	0.0012	0.0012	0.0011	0.0014	0.0325	0.0011	0.0010	0.0285	0.0269	0.0002	0	0.0003	0	0.0325	0	0	4.411e-05	0.0005	0.0006	0.024	0.48186	D	0.014	0.62352	D	0.993	0.65571	D	0.924	0.65913	D	0.004100	0.34125	N	0.133808	0.995994	0.23144	N	0.895	0.22405	L	3.38	0.05778	T	-2.61	0.57275	D	0.46	0.49692	-0.9973	0.30673	T	0.016	0.06329	T	10	0.008899063	0.00202	T	.	.	.	0.095	0.27398	0.461	0.52916	0.242825505644	0.23883	0.26272911111029706	0.26185	0.165982445081	0.18730	0.370134472847	0.20851	T	0.005733	0.05178	T	-0.554122	0.00275	T	-0.540871	0.18211	T	0.088155300765053	0.10996	T	0.723528	0.33695	T	0.15156545	0.34450	0.13298362	0.31899	0.15156545	0.34449	0.13298362	0.31898	-6.384	0.51000	T	.	.	0.261	0.54682	B	.;.	.;.	2.675808	0.34894	19.75	0.98942334132827403	0.48959	0.23792	0.22190	N	AEFBI	0.112536	0.22240	N	-0.206146925181634	0.32881	1.85931	-0.291819674180927	0.28367	1.581153	1.51937801905069E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.02	-1.44	0.08391	0.111000	0.15292	-0.146000	0.11468	-0.110000	0.15115	0.977000	0.34929	0.003000	0.18671	0.263000	0.23594	0.3692:0.3807:0.2501:0.0	4.174	0.09805	83	0.96533	Lipid-binding serum glycoprotein, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	553.46	49	chr20	33226957	.	G	T	553.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.04;DP=231;ExcessHet=0;FS=1.097;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-0.641;SOR=0.518	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1310	6	0	1	0
chr20	33289971	33289971	A	G	exonic	BPIFB1	.	nonsynonymous SNV	BPIFB1:NM_033197:exon4:c.A344G:p.D115G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.00552784752353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.0	0.92824	D	1.0	0.90584	D	0.987	0.77487	D	0.000113	0.50451	D	0.085880	0.819233	0.34751	D	2.14	0.59869	M	3.44	0.05375	T	-4.31	0.76576	D	0.678	0.68516	-1.0236	0.22541	T	0.037	0.16160	T	10	0.50894964	0.61983	D	0.005528	0.14258	T	0.191	0.46948	0.593	0.72247	0.509228182784	0.50563	0.4193332324008314	0.41849	0.42942473985	0.43233	0.418913900852	0.27688	T	0.061056	0.31553	T	-0.0789287	0.39890	T	-0.351152	0.39072	T	0.991216540336609	0.81482	D	0.740526	0.36288	T	0.16028467	0.35960	0.21452612	0.46007	0.16028467	0.35959	0.21452612	0.46006	-6.406	0.49556	T	.	.	0.395	0.60942	A	.;.	.;.	4.183921	0.63012	24.5	0.9986758113404216	0.94547	0.89306	0.49691	D	AEFDBI	0.531146	0.55155	D	0.514370334283322	0.67940	5.149063	0.528242101747537	0.69900	5.426536	0.992482549378609	0.32856	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.4	5.4	0.77957	4.117000	0.57623	6.932000	0.56962	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	1.0:0.0:0.0:0.0	12.130	0.53239	60	0.97424	Lipid-binding serum glycoprotein, N-terminal;Lipid-binding serum glycoprotein, N-terminal|Lipid-binding serum glycoprotein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	327.63	33	chr20	33289971	.	A	G	327.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-0.932;SOR=0.892	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	6	0	1	0
chr20	33401515	33401515	T	C	exonic	CDK5RAP1	.	nonsynonymous SNV	CDK5RAP1:NM_001278169:exon1:c.A44G:p.Y15C,CDK5RAP1:NM_016082:exon1:c.A44G:p.Y15C	.	522	998	2	0	0	2	0.001001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs959306463	3.601e-05	2.326e-05	4.238e-05	2.86e-05	0.0006	2.554e-05	2.216e-05	2.426e-05	2.131e-05	0	0	0	0	0	0.0006	3.544e-05	3.666e-05	6.075e-05	3.287e-05	3.285e-05	3.856e-05	2.691e-05	7.351e-05	1.261e-05	7.98e-06	2.847e-05	1.858e-05	0	0	0	0	0	0	0	7.351e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	99.44	34	chr20	33401515	.	T	C	99.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.674;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=24.86;ReadPosRankSum=-0.319;SOR=0.446	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1098	6	0	1	0
chr20	33644447	33644447	A	G	exonic	CBFA2T2	.	nonsynonymous SNV	CBFA2T2:NM_001032999:exon11:c.A1589G:p.H530R,CBFA2T2:NM_001039709:exon11:c.A1529G:p.H510R,CBFA2T2:NM_005093:exon12:c.A1616G:p.H539R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.807	0.164134168709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.994	0.82059	D	0.000000	0.84330	N	0.046970	1	0.81001	D	4.63	0.99327	H	-0.36	0.72237	T	-6.07	0.95842	D	0.924	0.92784	0.794	0.94334	D	0.720	0.90404	D	10	0.96906936	0.96457	D	0.164134	0.84331	D	0.807	0.93738	0.891	0.97367	0.914352520461	0.91349	0.99814086903435	0.99813	1.75705472658	0.91076	0.805450201035	0.82794	D	0.905177	0.98171	D	0.421591	0.91103	D	0.36781	0.90992	D	0.998588860034943	0.94563	D	0.99733	0.98937	D	0.8538876	0.87624	0.83444434	0.90475	0.8538876	0.87625	0.83444434	0.90475	-12.6	0.88002	D	.	.	0.998	0.98268	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.600193	0.72850	25.9	0.99829351414855927	0.91112	0.97810	0.77299	D	AEFBCI	0.881199	0.80839	D	1.10972112974363	0.98310	17.93698	1.01630609287347	0.98919	19.87713	0.999999917686378	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.88	5.88	0.94564	9.325000	0.96006	11.149000	0.87296	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.301	0.82641	103	0.95740	.;Zinc finger, MYND-type|Zinc finger, MYND-type|Zinc finger, MYND-type;Zinc finger, MYND-type|Zinc finger, MYND-type|Zinc finger, MYND-type;.;.;.;Zinc finger, MYND-type|Zinc finger, MYND-type|Zinc finger, MYND-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr20	33644447	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=210;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	1	0	0
chr20	33676914	33676914	C	A	exonic	E2F1	.	nonsynonymous SNV	E2F1:NM_005225:exon7:c.G1132T:p.V378L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00853981412402	.	.	3.589e-05	0	0	0	0	7.468e-05	0	0	1.29e-05	2	154602	rs371155232	4.518e-05	4.72e-05	4.33e-05	4.71e-05	5.514e-05	3.621e-05	3.295e-05	4.358e-05	3.921e-05	3.087e-05	2.596e-05	0	0	0	0	5.514e-05	3.411e-05	0	1.971e-05	1.97e-05	1.284e-05	2.689e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.392	0.10766	T	0.407	0.14679	T	0.716	0.42206	P	0.203	0.37000	B	0.078399	0.21046	N	0.479162	0.95789	0.26244	N	1.385	0.34509	L	1.07	0.39586	T	-0.72	0.20358	N	0.066	0.03841	-1.0761	0.08124	T	0.065	0.26913	T	10	0.107269794	0.19916	T	0.00854	0.22581	T	0.027	0.05988	0.191	0.10171	0.457489361034	0.45375	0.1681913175665822	0.16739	0.590791334462	0.54529	0.583642184734	0.50598	T	0.296461	0.66909	T	-0.378499	0.03185	T	-0.587155	0.13912	T	0.0699987010639282	0.08652	T	0.822818	0.48291	T	0.06266963	0.13115	0.047505427	0.06858	0.06266963	0.13114	0.047505427	0.06858	-1.993	0.03154	T	.	.	0.170	0.37350	B	.	.	2.065475	0.26261	17.06	0.95654726829248604	0.27473	0.48217	0.28157	N	AEFDBHCI	0.163549	0.28984	N	-0.0911953108280463	0.37778	2.202831	-0.0151722229241747	0.39029	2.308025	0.999917056975706	0.45857	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.63	3.66	0.41111	0.831000	0.27129	4.036000	0.41382	-0.176000	0.10722	0.832000	0.30162	1.000000	0.68203	0.942000	0.48361	0.1619:0.6818:0.1563:0.0	9.487	0.38102	119	0.95208	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	481.63	40	chr20	33676914	.	C	A	481.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.423;DP=228;ExcessHet=0;FS=2.454;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=0.885;SOR=0.388	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	6	0	1	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E,GGT7:NM_178026:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1118.32	66	chr20	34852409	.	G	C	1118.32	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.853;DP=740;ExcessHet=11.5949;FS=341.312;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=1.72;ReadPosRankSum=0.758;SOR=11.219	GT:AD:DP:GQ:PL	0/1:86,44:138:99:203,0,1323	0	0	6	1
chr20	34987254	34987254	C	T	exonic	MYH7B	.	nonsynonymous SNV	MYH7B:NM_020884:exon16:c.C1240T:p.R414W	.	194	1326	2	0	0	2	0.00075358	.	.	.	1576504	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.712	0.0971622850556	0.0002	0.000399361	0.0005	0	0	0.0071	0	3.001e-05	0.0011	6.063e-05	0.0004334	67	154602	rs180819033	0.0001	0.0001	0.0001	0.0001	0.0036	0.0001	0.0001	0.0031	0.0029	0	2.236e-05	0	0.0036	0	0	1.889e-05	0.0002	5.802e-05	0.0001	0.0001	0.0001	0.0001	0.0031	8.17e-05	6.726e-05	0.0019	0.0016	0	0	6.539e-05	0	0.0031	0	0	2.94e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.005089	0.33107	N	0.000000	0.999973	0.53665	D	.	.	.	-2.32	0.87830	D	-6.72	0.92561	D	0.762	0.76019	0.937	0.96204	D	0.870	0.95674	D	10	0.026727319	0.00833	T	0.097162	0.76726	D	0.712	0.89741	.	.	0.710887551834	0.70836	0.4264663941452392	0.42563	0.662991453735	0.59004	0.890084862709	0.95271	D	.	.	.	-0.0998557	0.36447	T	0.0866774	0.76023	D	0.309234414912692	0.25383	T	0.929307	0.73951	D	0.21155992	0.43484	0.15646328	0.36630	0.21155992	0.43484	0.15646328	0.36629	-13.388	0.90898	D	.	.	0.503	0.64713	A	.;.	.;.	4.853986	0.79367	27.1	0.99915483778590131	0.98379	0.85582	0.44729	D	AEFGBCI	0.792098	0.72050	D	0.642196650394577	0.75866	6.382048	0.44382379253212	0.64322	4.684639	0.920639817180304	0.26640	0.403107	0.06075	0	0.514364	0.08380	0	0.578056	0.29568	0	0.645665	0.59343	0	.	.	3.53	2.54	0.29674	1.063000	0.30177	0.392000	0.17901	0.599000	0.40250	1.000000	0.71638	0.985000	0.30750	0.998000	0.85391	0.1742:0.8258:0.0:0.0	12.547	0.55552	626	0.65439	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1917.46	130	chr20	34987254	.	C	T	1917.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.962;DP=337;ExcessHet=0;FS=3.22;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.75;ReadPosRankSum=-0.564;SOR=0.502	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,110,1800	6	0	1	0
chr20	34999382	34999382	A	G	exonic	MYH7B	.	nonsynonymous SNV	MYH7B:NM_020884:exon36:c.A4643G:p.K1548R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.368	0.0145978744922	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1473192789	7.284e-07	1.368e-06	1.43e-06	0	9.363e-07	0	0	.	.	0	0	0	0	0	0	9.363e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.16358	T	0.53	0.10103	T	.	.	.	.	.	.	.	.	.	.	0.997668	0.44080	D	.	.	.	-1.06	0.76819	T	-1.55	0.37566	N	0.157	0.16308	-0.3716	0.72912	T	0.454	0.78714	T	9	0.49793845	0.61377	T	0.014598	0.34823	T	0.368	0.68757	.	.	0.699185091952	0.69658	0.10353673766341846	0.10283	0.130808477754	0.14758	0.480402588844	0.36112	T	.	.	.	-0.101743	0.36135	T	-0.383923	0.35262	T	0.908512771129608	0.56312	D	0.741226	0.36032	T	0.049559433	0.08819	0.2252454	0.47464	0.049559433	0.08819	0.2252454	0.47463	-4.529	0.31266	T	.	.	0.075	0.05623	B	.;.	.;.	2.191748	0.27947	17.63	0.99191281849846569	0.54994	0.90611	0.51931	D	AEFDGBCI	0.805808	0.73029	D	0.317772962822134	0.57060	3.872107	0.282439441419825	0.54513	3.616191	0.99979378265344	0.43153	0.580535	0.33130	0	0.379588	0.06130	0	0.576033	0.28219	0	0.714379	0.83352	0	.	.	4.19	3.09	0.34677	6.321000	0.72842	1.420000	0.26356	-0.059000	0.16651	1.000000	0.71638	0.999000	0.35428	0.873000	0.41610	0.9064:0.0:0.0936:0.0	8.750	0.33769	616	0.66398	Myosin tail;Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	485.53	22	chr20	34999382	.	A	G	485.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.29;DP=279;ExcessHet=0;FS=1.154;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.96;ReadPosRankSum=0.688;SOR=0.977	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	6	0	1	0
chr20	35000390	35000390	G	A	exonic	MYH7B	.	nonsynonymous SNV	MYH7B:NM_020884:exon39:c.G5005A:p.G1669S	.	416	1055	48	3	0	54	0.0249538	.	.	.	728613	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.392	.	0.0027	0.00439297	0.0051	0.0004	0.0023	0	0	0.0036	0.0129	0.0193	0.0044954	695	154602	rs201963394	0.0038	0.0038	0.0032	0.0044	0.0190	0.0037	0.0037	0.0183	0.0179	0.0006	0.0023	0.0005	2.519e-05	0.0002	0.0181	0.0030	0.0043	0.0190	0.0030	0.0030	0.0028	0.0033	0.0151	0.0028	0.0027	0.0124	0.0113	0.0005	0	0.0061	0.0006	0	0	0.0170	0.0036	0.0118	0.0151	0.035	0.43708	D	0.365	0.16717	T	.	.	.	.	.	.	0.038163	0.24316	N	0.205114	0.982128	0.39855	D	.	.	.	-1.7	0.83072	D	-3.35	0.66436	D	0.424	0.46368	-0.2066	0.77501	T	0.448	0.78348	T	10	0.012250483	0.00264	T	.	.	.	0.392	0.70764	.	.	0.624326400291	0.62126	0.25789666232263975	0.25703	0.175981301143	0.19813	0.720171570778	0.70071	T	.	.	.	-0.289717	0.09663	T	-0.17334	0.57136	T	0.0316961208468174	0.02257	T	0.927707	0.73352	D	0.14921352	0.34028	0.30081695	0.56115	0.16378477	0.36542	0.36038232	0.61480	-4.789	0.34463	T	.	.	0.139	0.30608	B	.;.	.;.	4.044325	0.59904	24.2	0.99355405892283677	0.60779	0.92154	0.55065	D	AEFDBHCI	0.773292	0.70735	D	0.0254915060892776	0.43015	2.602944	0.145682470713919	0.46915	2.929722	0.941430718863094	0.27477	0.580535	0.33130	0	0.379588	0.06130	0	0.576033	0.28219	0	0.711	0.71501	0	.	.	4.07	4.07	0.46726	4.877000	0.62779	11.887000	0.98989	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:1.0:0.0	16.863	0.85889	614	0.66605	Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015609	0.005051	0.014946	0.011696	0.000000	0.060345	0.018293	0.007576	0.07143	1985.44	33	chr20	35000390	.	G	A	1985.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.116;DP=362;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=0.207;SOR=0.655	GT:AD:DP:GQ:PL	0/1:97,82:179:99:1996,0,2417	6	0	1	0
chr20	36198013	36198013	C	G	exonic	EPB41L1	.	nonsynonymous SNV	EPB41L1:NM_001258331:exon13:c.C1418G:p.P473R,EPB41L1:NM_177996:exon13:c.C1418G:p.P473R,EPB41L1:NM_001258330:exon14:c.C1511G:p.P504R,EPB41L1:NM_012156:exon14:c.C1640G:p.P547R,EPB41L1:NM_001258329:exon15:c.C1640G:p.P547R	.	3	1492	25	2	0	29	0.00962496	.	.	.	134443	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.164	.	0.0062	0.00599042	0.0083	0.0021	0.0026	0	0.0050	0.0092	0.0023	0.0179	0.0077231	1194	154602	rs6089016	0.0070	0.0070	0.0067	0.0073	0.0170	0.0069	0.0068	0.0162	0.0160	0.0011	0.0025	0.0053	2.519e-05	0.0059	0.0080	0.0069	0.0062	0.0170	0.0052	0.0052	0.0053	0.0049	0.0164	0.0049	0.0047	0.0135	0.0124	0.0014	0	0.0050	0.0052	0	0.0048	0.0034	0.0071	0.0076	0.0164	0.018	0.61437	D	0.03	0.54159	D	0.009	0.67487	B	0.008	0.68059	B	0.000049	0.53742	N	0.193004	0.999995	0.58761	D	0.695	0.17993	N	-1.95	0.85613	D	-2.3	0.58407	N	0.468	0.65501	-0.0703	0.80774	T	0.516	0.81898	D	10	0.005582273	0.00123	T	.	.	.	0.414	0.72479	.	.	0.577202177789	0.57390	0.41474725758799835	0.41390	0.826141838325	0.67412	0.681493759155	0.64483	T	0.468462	0.80238	T	-0.229641	0.16695	T	-0.0883602	0.64286	T	0.0296726304998751	0.01939	T	0.961004	0.88660	D	0.15671715	0.35351	0.13630909	0.32611	0.16008583	0.35926	0.175177	0.39965	-9.304	0.73244	D	0.2840188812731129	0.37976	0.389	0.62801	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.910477	0.57021	23.8	0.99599050687473634	0.74101	0.99295	0.94095	D	AEFDBI	0.928332	0.91238	D	0.0591614778270958	0.44565	2.72824	0.155281261005179	0.47422	2.972692	0.999974069287737	0.50053	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.15	5.15	0.70287	7.426000	0.79456	7.668000	0.64620	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.361000	0.25909	0.0:1.0:0.0:0.0	17.620	0.87979	715	0.56137	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013185	0.010101	0.012228	0.011765	0.050000	0.000000	0.012270	0.011538	0.07143	198.44	34	chr20	36198013	.	C	G	198.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.59;DP=252;ExcessHet=0;FS=1.674;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=-0.536;SOR=0.715	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1312	6	0	1	0
chr20	36432450	36432450	G	A	exonic	DLGAP4	.	nonsynonymous SNV	DLGAP4:NM_001365621:exon3:c.G733A:p.A245T,DLGAP4:NM_014902:exon3:c.G733A:p.A245T	.	432	1080	10	0	0	10	0.00460829	.	.	.	716943	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.226	.	0.0012	0.00459265	0.0034	0.0001	0.0008	0	0.0002	0.0011	0	0.0198	0.0029754	460	154602	rs146757517	0.0022	0.0022	0.0016	0.0027	0.0203	0.0021	0.0021	0.0195	0.0192	0.0002	0.0008	0.0021	0	0.0003	0.0019	0.0010	0.0025	0.0203	0.0014	0.0014	0.0012	0.0017	0.0188	0.0013	0.0012	0.0157	0.0146	0.0002	0	0.0018	0.0035	0	0.0002	0	0.0011	0.0005	0.0188	0.012	0.56456	D	0.039	0.51112	D	0.975	0.58077	D	0.242	0.38699	B	0.000003	0.62929	D	0.057463	0.99828	0.44722	D	1.61	0.41143	L	1.96	0.22270	T	-1.81	0.42575	N	0.559	0.58373	-1.1068	0.03359	T	0.041	0.17742	T	10	0.009884894	0.00222	T	.	.	.	0.226	0.52472	.	.	0.266724437049	0.26276	0.3645978046822784	0.36373	0.916210507732	0.71246	0.605830073357	0.53727	T	0.051083	0.28780	T	-0.407215	0.02074	T	-0.342117	0.40105	T	0.0655071708820935	0.08005	T	0.882612	0.60317	D	0.19760294	0.41630	0.23671405	0.48950	0.19760294	0.41630	0.23671405	0.48949	-2.838	0.08538	T	.	.	0.110	0.26762	B	.;.;.;.	.;.;.;.	4.323203	0.66182	24.9	0.99890862013597903	0.96513	0.99349	0.94855	D	AEFDBI	0.902671	0.85084	D	0.469863862646862	0.65338	4.809991	0.561769344006739	0.72221	5.775576	0.999998249929805	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.24	5.24	0.72863	9.596000	0.97431	9.282000	0.79722	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.806	0.88512	590	0.68897	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.000000	0.000000	0.008824	0.000000	0.000000	0.000000	0.015152	0.07143	729.44	44	chr20	36432450	.	G	A	729.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.555;DP=286;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=-1.875;SOR=0.786	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	6	0	1	0
chr20	36887477	36887477	A	G	exonic	TLDC2	.	nonsynonymous SNV	TLDC2:NM_001304783:exon4:c.A365G:p.N122S,TLDC2:NM_080628:exon5:c.A461G:p.N154S	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.440	0.0658442883367	0.0002	0.000599042	0.0005	0	8.637e-05	0	0	0.0001	0	0.0029	0.0001153	3	26028	rs368876056	0.0003	0.0003	0.0001	0.0004	0.0028	0.0002	0.0002	0.0025	0.0024	2.987e-05	2.236e-05	0.0001	0	0	0.0005	8.903e-05	0.0003	0.0028	0.0002	0.0002	0.0002	0.0001	0.0019	0.0001	9.715e-05	0.0010	0.0007	9.65e-05	0	0	0	0	0	0	0.0002	0	0.0019	0.001	0.91255	D	0.009	0.92824	D	0.999	0.77913	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.999991	0.58761	D	3.17	0.88688	M	0.66	0.52416	T	-4.96	0.82341	D	0.732	0.77413	-0.2417	0.76582	T	0.344	0.70956	T	10	0.053376436	0.05519	T	0.065844	0.69699	D	0.440	0.74377	.	.	0.651524792116	0.64862	0.3737992518637649	0.37293	0.296839923521	0.32070	0.556413352489	0.46761	T	0.267482	0.63951	T	-0.282321	0.10423	T	-0.182615	0.56281	T	0.939373910427094	0.61078	D	0.90471	0.66491	D	0.92071664	0.93318	0.9387939	0.97688	0.92071664	0.93318	0.9387939	0.97688	-8.454	0.64124	D	.	.	0.299	0.52929	B	.;.;.	.;.;.	4.645275	0.73998	26.1	0.99473943601299597	0.66472	0.05964	0.11923	N	ALL	0.791599	0.72014	D	0.812660581667904	0.86892	9.033364	0.754609871921353	0.86499	8.909457	1.0	0.98316	0.001892	0.00033	3	0.703908	0.78521	0	0.587068	0.30358	0	0.662026	0.63922	0	.	.	5.25	5.25	0.73169	6.960000	0.75832	11.062000	0.85454	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	13.378	0.60194	829	0.39537	TLDc domain|TLDc domain;TLDc domain|TLDc domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	682.44	35	chr20	36887477	.	A	G	682.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.41;DP=274;ExcessHet=0;FS=2.947;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.58;ReadPosRankSum=0.655;SOR=0.929	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1153	6	0	1	0
chr20	37199095	37199095	A	G	exonic	RPN2	.	nonsynonymous SNV	RPN2:NM_001135771:exon3:c.A253G:p.S85G,RPN2:NM_001324299:exon4:c.A349G:p.S117G,RPN2:NM_001324301:exon4:c.A349G:p.S117G,RPN2:NM_001324302:exon4:c.A349G:p.S117G,RPN2:NM_001324303:exon4:c.A349G:p.S117G,RPN2:NM_001324304:exon4:c.A349G:p.S117G,RPN2:NM_001324305:exon4:c.A349G:p.S117G,RPN2:NM_002951:exon4:c.A349G:p.S117G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.0147372431492	0.0002	0.000199681	2.471e-05	0.0003	0	0	0	0	0	0	2.59e-05	4	154602	rs200634422	4.105e-06	4.104e-06	5.446e-06	2.751e-06	0.0001	1.48e-06	9.7e-07	3.983e-05	2.374e-05	0.0001	2.236e-05	0	0	0	0	8.995e-07	0	0	3.283e-05	3.281e-05	3.855e-05	2.685e-05	0.0001	1.26e-05	7.97e-06	4.727e-05	3.045e-05	0.0001	0	0	0	0	0	0	0	0	0	0.029	0.50676	D	0.069	0.92824	T	0.973	0.57599	D	0.764	0.56591	P	0.000000	0.84330	D	0.042136	0.999999	0.58761	D	2.24	0.63355	M	0.85	0.47130	T	-1.67	0.39887	N	0.778	0.77507	-0.7827	0.56149	T	0.198	0.55357	T	10	0.24457517	0.41691	T	0.014737	0.35052	T	0.214	0.50650	.	.	0.688954178089	0.68629	0.25361388437558535	0.25275	0.210700871631	0.23564	0.599850535393	0.52883	T	0.128061	0.45548	T	-0.170875	0.25100	T	-0.187035	0.55867	T	0.299674815407241	0.24990	T	0.968503	0.88585	D	0.25741267	0.48785	0.20427407	0.44543	0.25741267	0.48785	0.20427407	0.44542	-4.192	0.27141	T	.	.	0.108	0.33504	B	.;.;.	.;.;.	4.619929	0.73354	26.0	0.99861783006837657	0.94002	0.99030	0.90202	D	AEFDBIJ	0.956493	0.97506	D	0.638100922214665	0.75601	6.334817	0.66392883684176	0.79653	7.127827	0.99999997981228	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	8.485000	0.90290	9.220000	0.79290	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	13.266	0.59566	352	0.85375	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	682.49	36	chr20	37199095	.	A	G	682.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.313;DP=263;ExcessHet=0;FS=0.855;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.53;ReadPosRankSum=-0.533;SOR=0.556	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1435	6	0	1	0
chr20	38147977	38147977	C	T	exonic	TGM2	.	nonsynonymous SNV	TGM2:NM_001323317:exon4:c.G422A:p.R141Q,TGM2:NM_001323318:exon4:c.G485A:p.R162Q,TGM2:NM_004613:exon5:c.G665A:p.R222Q,TGM2:NM_198951:exon5:c.G665A:p.R222Q,TGM2:NM_001323316:exon6:c.G665A:p.R222Q	.	417	1099	6	0	0	6	0.00272232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.334500365592	.	0.000798722	0.0005	0	0	0	0	0.0002	0	0.0027	0.0003234	50	154602	rs200551434	0.0002	0.0002	0.0001	0.0002	0.0020	0.0002	0.0002	0.0018	0.0017	0	2.246e-05	3.835e-05	0	0	0.0016	5.308e-05	0.0003	0.0020	0.0001	0.0001	8.992e-05	0.0002	0.0023	8.657e-05	7.25e-05	0.0013	0.0010	0	0	0	0	0	0	0	0.0001	0.0009	0.0023	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	4.18	0.97724	H	-2.95	0.91903	D	-3.95	0.73477	D	0.927	0.93135	1.049	0.98100	D	0.907	0.96929	D	10	0.17540488	0.32471	T	0.335	0.91844	D	0.889	0.96799	.	.	0.823916440368	0.82225	0.9215771398404207	0.92133	0.912555713531	0.71118	0.469067007303	0.34552	T	0.695589	0.91188	D	0.174037	0.71494	D	0.47074	0.94013	D	0.711125731468201	0.41255	D	0.975402	0.97390	D	0.91264755	0.92542	0.79093367	0.87704	0.91264755	0.92543	0.79093367	0.87705	-8.757	0.66119	D	.	.	0.701	0.74811	P	.;.	.;.	5.636993	0.92716	32	0.99928067570820001	0.99222	0.97787	0.77130	D	AEFDBCI	0.919773	0.89079	D	0.741075797158161	0.82322	7.734235	0.601649009400187	0.75060	6.244102	0.999999999999996	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.645312	0.48771	0	0.735409	0.98432	0	.	.	4.78	4.78	0.60666	6.153000	0.71612	7.599000	0.61500	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.202000	0.21954	0.0:1.0:0.0:0.0	16.579	0.84562	875	0.30485	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002022	0.000000	0.001362	0.005917	0.000000	0.000000	0.000000	0.000000	0.07143	1083.53	36	chr20	38147977	.	C	T	1083.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.83;DP=303;ExcessHet=0;FS=0.695;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=0.7;SOR=0.815	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1079	6	0	1	0
chr20	38318473	38318473	C	A	exonic	BPI	.	nonsynonymous SNV	BPI:NM_001725:exon6:c.C661A:p.P221T	.	428	1091	3	0	0	3	0.001373	.	.	.	2319515	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.163	0.00945685211918	0.0006	0.000399361	0.0003	0.0015	8.639e-05	0	0	1.499e-05	0	0.0011	0.0002523	39	154602	rs111327200	0.0002	0.0002	0.0001	0.0002	0.0022	0.0001	0.0001	0.0018	0.0016	0.0022	2.236e-05	0	0	0	0.0010	1.26e-05	0.0003	0.0015	0.0006	0.0006	0.0007	0.0005	0.0019	0.0005	0.0005	0.0016	0.0015	0.0019	0	6.54e-05	0	0	0	0	2.94e-05	0.0005	0.0012	0.003	0.68238	D	0.015	0.61642	D	0.981	0.59675	D	0.608	0.51027	P	0.000132	0.49741	D	0.086033	1	0.81001	D	2.92	0.84325	M	3.45	0.05311	T	-6.05	0.89796	D	0.36	0.40164	-1.1371	0.01470	T	0.032	0.13854	T	10	0.036789805	0.01996	T	0.009457	0.24786	T	0.163	0.42028	.	.	0.33440975612	0.33058	0.4541979387350363	0.45337	0.244366285691	0.26938	0.371332228184	0.21023	T	0.089033	0.38285	T	-0.461187	0.00966	T	-0.454254	0.27227	T	0.185005739631549	0.19545	T	0.671133	0.28448	T	0.7349025	0.80001	0.3252687	0.58444	0.7349025	0.80003	0.3252687	0.58443	-9.194	0.68937	D	.	.	0.217	0.50591	B	.;.	.;.	3.017350	0.40373	21.2	0.99384814271569033	0.62068	0.82988	0.42146	D	AEFGBI	0.151783	0.27633	N	0.235221402968584	0.52913	3.462642	0.138161950798059	0.46517	2.896501	0.0553078968630643	0.15011	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.23	2.19	0.26890	1.721000	0.37654	2.641000	0.33754	0.580000	0.29708	1.000000	0.71638	0.998000	0.33993	0.842000	0.39752	0.1684:0.7376:0.0:0.094	7.205	0.25079	849	0.35778	Lipid-binding serum glycoprotein, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	881.45	33	chr20	38318473	.	C	A	881.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.373;DP=254;ExcessHet=0;FS=0.902;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=1.09;SOR=0.836	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	6	0	1	0
chr20	38354379	38354379	C	G	exonic	LBP	.	nonsynonymous SNV	LBP:NM_004139:exon4:c.C464G:p.T155S	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0051615828506	0.0025	0.00119808	0.0017	0.0005	0.0023	0.0012	0	0.0025	0.0011	0	0.0020116	311	154602	rs140791140	0.0030	0.0030	0.0030	0.0029	0.0035	0.0029	0.0029	0.0034	0.0034	0.0004	0.0034	0.0019	0.0009	0.0002	0.0009	0.0035	0.0026	6.957e-05	0.0021	0.0021	0.0021	0.0021	0.0039	0.0019	0.0018	0.0031	0.0028	0.0005	0	0.0039	0.0012	0.0021	0.0002	0.0034	0.0031	0.0052	0	0.69	0.04302	T	1.0	0.01155	T	0.003	0.11197	B	0.041	0.23986	B	0.170971	0.17375	N	0.571547	1	0.08975	N	0.79	0.19579	N	3.5	0.05014	T	-0.44	0.14588	N	0.129	0.12341	-0.9143	0.46311	T	0.009	0.03140	T	10	0.0044599473	0.00092	T	0.005162	0.13125	T	0.058	0.16647	0.452	0.51448	0.141422826196	0.13715	0.24020681835314237	0.23934	0.088101396591	0.09952	0.333153188229	0.15410	T	0.021314	0.16617	T	-0.641629	0.00081	T	-0.694952	0.06106	T	0.0077685531030956	0.00091	T	0.467153	0.13745	T	0.07193386	0.15964	0.064475514	0.12926	0.07193386	0.15963	0.064475514	0.12926	-3.119	0.11516	T	.	.	0.084	0.09820	B	.	.	0.338335	0.07118	3.697	0.39771850120629304	0.02765	0.10952	0.16306	N	AEFDBI	0.600519	0.59312	D	-1.00189542527828	0.08564	0.4020368	-0.948026893486962	0.10969	0.555921	0.987116285399738	0.31187	0.559995	0.30671	0	0.547309	0.14657	0	0.527494	0.11647	0	0.530356	0.10902	0	.	.	4.77	2.81	0.31971	2.259000	0.42914	1.738000	0.28378	0.599000	0.40250	0.055000	0.21596	0.002000	0.18203	0.136000	0.19798	0.0:0.7225:0.1809:0.0966	6.628	0.22032	793	0.45818	Lipid-binding serum glycoprotein, N-terminal|Lipid-binding serum glycoprotein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	2090.44	34	chr20	38354379	.	C	G	2090.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.053;DP=359;ExcessHet=0;FS=1.199;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.134;SOR=0.572	GT:AD:DP:GQ:PL	0/1:87,90:177:99:2101,0,2084	6	0	1	0
chr20	41100210	41100210	T	C	exonic	TOP1	.	nonsynonymous SNV	TOP1:NM_003286:exon12:c.T1130C:p.I377T	DNA topoisomerase I, camptothecin-resistant (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	0.0834407527716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.476e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	0.56	0.54540	T	-3.32	0.66085	D	0.82	0.81559	-0.0985	0.80132	T	0.396	0.74836	T	10	0.9008926	0.89450	D	0.083441	0.74116	D	0.574	0.82742	0.722	0.85673	0.540554013241	0.53707	0.9560339756758913	0.95588	2.80145084336	0.98906	0.859892368317	0.91094	D	0.433276	0.78076	T	0.277652	0.81115	D	0.161051	0.80870	D	0.990620062547804	0.80840	D	0.893211	0.63049	D	0.72673106	0.79539	0.6802238	0.81211	0.72673106	0.79541	0.6802238	0.81212	-7.188	0.55395	T	0.21552924678770424	0.28978	0.700	0.72976	P	.	.	4.638435	0.73819	26.1	0.99864711876054513	0.94276	0.99367	0.95101	D	AEFDBIJ	0.901728	0.84877	D	0.864122058876594	0.89897	10.16446	0.811333328112474	0.90570	10.46782	0.99999999931251	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	8.017000	0.88732	7.929000	0.74923	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.488	0.75314	921	0.19240	DNA topoisomerase I, DNA binding, eukaryotic-type|DNA topoisomerase I, eukaryotic-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	69.1	20	chr20	41100210	.	T	C	69.1	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=212;ExcessHet=0;FS=33.986;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.23;ReadPosRankSum=1.32;SOR=5.159	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:52,0:52:41:.:.:0,41,1092:.	6	0	1	0
chr20	41166241	41166241	C	A	exonic	PLCG1	.	nonsynonymous SNV	PLCG1:NM_002660:exon17:c.C1847A:p.A616D,PLCG1:NM_182811:exon17:c.C1847A:p.A616D	.	418	1101	3	0	0	3	0.00136054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.0121091065774	.	.	1.65e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs773588801	4.789e-06	4.788e-06	1.361e-06	8.251e-06	0.0002	1.99e-06	1.28e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	8.993e-07	0	5.797e-05	6.563e-06	6.561e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.124	0.27426	T	0.631	0.07173	T	0.158	0.29379	B	0.039	0.27432	B	0.000003	0.62929	D	0.103033	1	0.81001	D	-0.525	0.02545	N	1.86	0.24285	T	-1.66	0.39692	N	0.74	0.77132	-1.0768	0.07983	T	0.032	0.13592	T	10	0.36459434	0.53000	T	0.012109	0.30386	T	0.187	0.46274	0.512	0.61000	0.324009150485	0.32011	0.5062295890891323	0.50544	.	.	0.788649141788	0.80237	T	0.568983	0.85697	D	-0.225082	0.17306	T	-0.379563	0.35774	T	0.438151657581329	0.30360	T	0.969303	0.88939	D	0.5345049	0.69087	0.43268716	0.66846	0.5345049	0.69088	0.43268716	0.66846	-13.908	0.92784	D	.	.	0.564	0.68801	A	.;.	.;.	4.211842	0.63633	24.6	0.98952713267097092	0.49170	0.94304	0.60741	D	AEFBCI	0.741672	0.68553	D	-0.539892269293522	0.20802	1.099314	-0.323569760891505	0.27339	1.516348	0.999999175417758	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.42	4.46	0.53567	4.982000	0.63547	7.631000	0.62734	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8656:0.1344:0.0	16.073	0.80759	942	0.12992	.;SH2 domain|SH2 domain|Pleckstrin homology domain|SH2 domain|PLC-gamma, N-terminal SH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	2518.44	41	chr20	41166241	.	C	A	2518.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.622;DP=436;ExcessHet=0;FS=1.039;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.65;SOR=0.604	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,104,1255	6	0	1	0
chr20	41420810	41420810	T	A	exonic	CHD6	.	nonsynonymous SNV	CHD6:NM_032221:exon31:c.A5825T:p.H1942L	.	416	1042	62	2	0	66	0.0306977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	.	0.0048	0.00259585	0.0051	0.0008	0.0073	0	0.0006	0.0067	0.0143	0.0041	0.0048188	745	154602	rs140143834	0.0048	0.0048	0.0047	0.0049	0.0472	0.0047	0.0046	0.0426	0.0408	0.0022	0.0070	0.0213	2.519e-05	0.0007	0.0472	0.0044	0.0072	0.0040	0.0045	0.0045	0.0044	0.0046	0.0108	0.0042	0.0041	0.0094	0.0089	0.0013	0.0011	0.0108	0.0233	0	0.0003	0.0476	0.0048	0.0076	0.0046	0.011	0.55530	D	0.165	0.30926	T	0.001	0.07471	B	0.002	0.06944	B	0.002783	0.35935	N	0.195101	0.614582	0.30831	N	1.995	0.54099	M	-1.97	0.85173	D	-1.3	0.32590	N	0.592	0.61172	-0.5537	0.66646	T	0.344	0.70948	T	10	0.004806787	0.00102	T	.	.	.	0.257	0.56827	.	.	0.689785631623	0.68712	0.3750919250978012	0.37423	0.189597863758	0.21281	0.446506142616	0.31466	T	0.084022	0.37186	T	-0.282742	0.10380	T	-0.176165	0.56878	T	0.0114341680343454	0.00171	T	0.763224	0.38939	T	0.094280444	0.22162	0.08424599	0.19367	0.094280444	0.22162	0.08424599	0.19367	-2.681	0.07144	T	.	.	0.100	0.17275	B	.	.	2.888150	0.38240	20.7	0.95014432481411215	0.25991	0.90439	0.51616	D	AEFBI	0.097281	0.19624	N	-0.282613491382424	0.29820	1.657095	-0.144698206204059	0.33612	1.924544	0.35311860280928	0.19703	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	5.86	3.56	0.39892	0.728000	0.25682	4.390000	0.43210	0.665000	0.62972	0.905000	0.31549	1.000000	0.68203	0.914000	0.44937	0.1166:0.0:0.1688:0.7146	8.132	0.30193	922	0.19044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.037764	0.040404	0.054348	0.040936	0.000000	0.051724	0.033537	0.003788	0.07143	737.63	75	chr20	41420810	.	T	A	737.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.018;DP=278;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=-0.541;SOR=0.65	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr20	41533336	41533336	T	C	exonic	CHD6	.	nonsynonymous SNV	CHD6:NM_032221:exon3:c.A268G:p.T90A	.	395	1119	8	0	0	8	0.00356189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.109301248615	.	.	4.129e-05	0	0	0	0	7.508e-05	0	0	3.88e-05	6	154602	rs763580626	4.857e-05	4.857e-05	5.445e-05	4.263e-05	6.115e-05	3.926e-05	3.604e-05	4.899e-05	4.484e-05	2.987e-05	0	0	0	0	0	6.115e-05	3.311e-05	0	5.259e-05	5.254e-05	3.856e-05	6.728e-05	0.0001	2.558e-05	1.831e-05	5.843e-05	4.24e-05	0	0	0	0	0	0	0	0.0001	0	0	0.012	0.91255	D	0.172	0.30241	T	0.972	0.60381	D	0.6	0.57058	P	0.000007	0.62929	D	0.000000	0.982637	0.42045	D	2.47	0.71715	M	-2.04	0.85703	D	-1.39	0.74742	N	0.389	0.44187	0.593	0.91811	D	0.802	0.93316	D	10	0.2736572	0.44916	T	0.109301	0.78620	D	0.337	0.65913	0.175	0.08135	0.80433381089	0.80250	0.13330614747516484	0.13254	0.112956299353	0.12750	0.572689533234	0.49058	T	0.071894	0.45194	T	-0.013633	0.49755	T	-0.0714555	0.65522	T	0.318955417413384	0.25779	T	0.842116	0.52486	T	0.13727409	0.31790	0.13645267	0.32643	0.13727409	0.31790	0.13645267	0.32642	-2.676	0.07602	T	.	.	0.067	0.42549	B	.;.;.	.;.;.	3.950391	0.57866	23.9	0.99812037524070207	0.89620	0.92069	0.54876	D	AEFBCI	0.493957	0.52996	N	0.391920440523159	0.60984	4.293621	0.455300991904059	0.65059	4.775941	0.999999992299102	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.63	5.63	0.86108	3.305000	0.51580	6.207000	0.54965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.842	0.78630	902	0.24074	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1101.44	74	chr20	41533336	.	T	C	1101.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.333;DP=262;ExcessHet=0;FS=0.919;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=0.318;SOR=0.917	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1335	6	0	1	0
chr20	43515059	43515059	G	A	exonic	L3MBTL1	.	nonsynonymous SNV	L3MBTL1:NM_001377307:exon2:c.G283A:p.D95N,L3MBTL1:NM_001377308:exon2:c.G283A:p.D95N,L3MBTL1:NM_001377309:exon2:c.G283A:p.D95N,L3MBTL1:NM_001377310:exon2:c.G283A:p.D95N,L3MBTL1:NM_015478:exon2:c.G283A:p.D95N,L3MBTL1:NM_001377311:exon4:c.G163A:p.D55N,L3MBTL1:NM_001377303:exon5:c.G553A:p.D185N,L3MBTL1:NM_001377306:exon5:c.G553A:p.D185N,L3MBTL1:NM_032107:exon5:c.G487A:p.D163N	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.164886559829	.	.	6.612e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs772930755	1.915e-05	1.915e-05	2.45e-05	1.375e-05	2.158e-05	1.328e-05	1.144e-05	1.46e-05	1.227e-05	0	0	0	0	3.744e-05	0	2.158e-05	3.312e-05	0	1.314e-05	1.313e-05	2.569e-05	0	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.007	0.59928	D	0.0	0.92824	D	0.001	0.07471	B	0.002	0.06944	B	0.186091	0.16972	N	0.536823	0.999859	0.20048	N	2.075	0.57047	M	-2.65	0.90210	D	-4.7	0.79829	D	0.232	0.27554	-0.4517	0.70344	T	0.579	0.84845	D	10	0.092011005	0.16167	T	0.164887	0.84389	D	0.155	0.40530	0.269	0.21735	0.831258655363	0.82965	0.27402243351089794	0.27315	0.168630496494	0.19017	0.442194759846	0.30877	T	0.014997	0.12660	T	-0.216848	0.18424	T	-0.357581	0.38333	T	0.402661174535751	0.29042	T	0.742826	0.36203	T	0.08951471	0.20917	0.06473549	0.13019	0.08951471	0.20917	0.06473549	0.13019	-5.103	0.37939	T	.	.	0.101	0.17488	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.195046	0.27991	17.65	0.99166906432048785	0.54269	0.59664	0.30977	D	AEFBCI	0.114176	0.22499	N	-0.382686340853942	0.26085	1.420987	-0.305170260353953	0.27931	1.553483	0.999994924637678	0.74766	0.455138	0.09556	0	0.484254	0.07192	0	0.391439	0.06340	0	0.56751	0.32155	0	.	.	4.92	3.97	0.45241	1.957000	0.40017	2.136000	0.30812	0.676000	0.76740	0.028000	0.20300	1.000000	0.68203	0.763000	0.36255	0.0985:0.0:0.9015:0.0	9.532	0.38365	661	0.61838	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1107.63	38	chr20	43515059	.	G	A	1107.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.28;DP=286;ExcessHet=0;FS=0.756;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=0.593;SOR=0.824	GT:AD:DP:GQ:PL	0/1:62,45:107:99:1118,0,1500	6	0	1	0
chr20	44355853	44355853	G	A	exonic	HNF4A	.	nonsynonymous SNV	HNF4A:NM_001030003:exon1:c.G49A:p.D17N,HNF4A:NM_001030004:exon1:c.G49A:p.D17N,HNF4A:NM_175914:exon1:c.G49A:p.D17N	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, Autosomal dominant;MODY, type I, Autosomal dominant	.	.	.	.	.	.	.	0.9855	0.856	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	.	.	.	8.654e-06	0	0	0	0	0	0	6.269e-05	6.5e-06	1	154602	rs765862207	1.371e-05	1.437e-05	1.091e-05	1.655e-05	0.0002	8.95e-06	7.28e-06	3.769e-05	2.664e-05	0	0	0	0	0	0.0002	9.913e-06	1.661e-05	8.124e-05	6.572e-06	1.97e-05	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.049	0.39820	D	0.026	0.55759	D	0.021	0.18474	B	0.018	0.21741	B	.	.	.	.	0.999921	0.51308	D	.	.	.	-2.99	0.92108	D	-0.57	0.17210	N	0.393	0.45047	0.004	0.82345	D	0.587	0.85202	D	9	0.39404175	0.55097	T	0.48748	0.94943	D	0.246	0.55340	0.15	0.05339	0.752906730884	0.75066	.	.	.	.	.	.	.	.	.	.	-0.193723	0.21713	T	-0.279377	0.46867	T	0.633342146873474	0.37757	D	0.539746	0.18256	T	.	.	.	.	.	.	.	.	-5.838	0.47281	T	.	.	0.108	0.20586	B	.;.;.	.;.;.	6.156006	0.94686	34	0.99824003220507973	0.90677	0.85161	0.44270	D	AEFDBHCI	0.754880	0.69462	D	-0.031055095648535	0.40453	2.402574	0.147564001311967	0.47012	2.938042	0.999999999991004	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.16	5.16	0.70563	5.862000	0.69313	11.754000	0.95474	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.864000	0.41028	0.0:0.0:1.0:0.0	14.509	0.67353	437	0.80299	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	871.49	39	chr20	44355853	.	G	A	871.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.24;DP=256;ExcessHet=0;FS=3.137;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=1.91;SOR=0.91	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1240	6	0	1	0
chr20	45176080	45176080	G	A	exonic	PI3	.	nonsynonymous SNV	PI3:NM_002638:exon2:c.G299A:p.G100E	.	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.0432849811362	.	0.000199681	0.0006	0	8.637e-05	0	0	1.498e-05	0.0011	0.0039	0.0004528	70	154602	rs553204293	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0002	0.0031	0.0030	0	0	0	0	0	0.0009	9.892e-06	0.0003	0.0035	7.881e-05	7.873e-05	1.285e-05	0.0001	0.0023	4.495e-05	3.511e-05	0.0013	0.0010	0	0	0	0	0	0	0	1.47e-05	0	0.0023	0.005	0.63226	D	0.02	0.58613	D	1.0	0.90584	D	0.992	0.80445	D	0.097298	0.20034	N	0.365602	1	0.08975	N	2.775	0.80997	M	-0.79	0.73739	T	-6.62	0.92128	D	0.374	0.41557	-0.5516	0.66726	T	0.481	0.80165	T	10	0.026748508	0.00834	T	0.043285	0.60905	D	0.228	0.52768	0.662	0.79996	0.784031634265	0.78203	0.39781258960639987	0.39696	0.689936938036	0.60511	0.294099658728	0.09525	T	0.596149	0.86989	D	-0.334687	0.05765	T	-0.25437	0.49385	T	0.241775894286554	0.22501	T	0.676632	0.28519	T	0.549657	0.69937	0.32914883	0.58797	0.549657	0.69938	0.32914883	0.58797	-5.93	0.45690	T	.	.	0.303	0.53229	B	.	.	2.930036	0.38926	20.8	0.99476898920134627	0.66633	0.02126	0.06277	N	AEFDGBI	0.034623	0.04320	N	-0.0850470468430257	0.38048	2.222553	-0.341841172895877	0.26761	1.480339	0.999363875500136	0.39301	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.49	1.2	0.20181	0.205000	0.17154	0.282000	0.16777	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.465000	0.28230	0.2231:0.2046:0.5723:0.0	3.839	0.08416	894	0.26265	WAP-type 'four-disulfide core' domain|WAP-type 'four-disulfide core' domain|WAP-type 'four-disulfide core' domain|WAP-type 'four-disulfide core' domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.07143	2155.44	200	chr20	45176080	.	G	A	2155.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.807;DP=520;ExcessHet=0;FS=4.037;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-1.342;SOR=0.461	GT:AD:DP:GQ:PL	0/0:79,0:79:99:0,120,1800	6	0	1	0
chr20	45335899	45335899	C	T	exonic	SDC4	.	nonsynonymous SNV	SDC4:NM_002999:exon2:c.G82A:p.D28N	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	7.7e-05	0.00199681	0.0009	0.0006	0.0003	0	0	4.531e-05	0	0.0055	0.0007762	120	154602	rs191024231	0.0004	0.0004	0.0002	0.0006	0.0056	0.0004	0.0004	0.0052	0.0051	0.0009	0.0002	0	0	0	0.0009	3.597e-05	0.0003	0.0056	0.0006	0.0006	0.0005	0.0006	0.0056	0.0005	0.0004	0.0040	0.0034	0.0010	0	0.0009	0	0	0	0	2.941e-05	0	0.0056	0.385	0.11015	T	0.291	0.20944	T	0.901	0.49677	P	0.15	0.34161	B	0.012439	0.29177	N	0.387600	0.514313	0.81001	D	1.735	0.44892	L	1.33	0.35031	T	-1.33	0.33197	N	0.324	0.36464	-1.1000	0.04091	T	0.054	0.22770	T	10	0.007850707	0.00178	T	.	.	.	0.060	0.17295	.	.	0.614824676058	0.61171	0.4274334788114595	0.42660	0.167913004893	0.18931	0.529284477234	0.42933	T	0.254257	0.62488	T	-0.637103	0.00087	T	-0.685873	0.06631	T	0.0167336014510983	0.00430	T	0.80142	0.44736	T	0.052721787	0.09873	0.05587612	0.09882	0.052721787	0.09873	0.05587612	0.09882	-4.616	0.32372	T	.	.	0.094	0.14385	B	.	.	1.988723	0.25265	16.70	0.99654285163634015	0.77505	0.35348	0.25281	N	AEFBI	0.301929	0.41031	N	-0.151719862953103	0.35162	2.016158	-0.143344303740307	0.33665	1.928128	0.999898009505894	0.45129	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	4.79	2.83	0.32150	0.288000	0.18695	0.076000	0.14327	0.599000	0.40250	0.481000	0.26808	0.002000	0.18203	0.989000	0.64315	0.0:0.7995:0.0:0.2005	7.682	0.27687	872	0.31118	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	375.83	36	chr20	45335899	.	C	T	375.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.141;DP=212;ExcessHet=0;FS=1.222;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=0.435;SOR=0.96	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1035	6	0	1	0
chr20	45857313	45857313	-	ATCT	exonic	ACOT8	.	startloss	ACOT8:NM_005469:exon1:c.2_3insAGAT:p.M1?	.	425	1040	53	4	0	61	0.0284914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.029353	0.0253	0.0006	0.0021	0.0353	0.0008	0.0044	0.0100	0.1046	0.0014215	37	26028	rs201025211	0.0089	0.0090	0.0066	0.0112	0.0854	0.0087	0.0087	0.0838	0.0831	0.0011	0.0011	0.0061	0.0228	0.0003	0.0110	0.0033	0.0133	0.0854	0.0058	0.0059	0.0046	0.0072	0.0886	0.0055	0.0054	0.0817	0.0790	0.0005	0	0.0014	0.0084	0.0286	0	0.0204	0.0032	0.0099	0.0886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013158	0.000000	0.000000	0.014620	0.000000	0.000000	0.028125	0.049618	0.07143	1053.79	35	chr20	45857313	.	C	CATCT	1053.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.12;DP=257;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=0.18;SOR=0.732	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1073	6	0	1	0
chr20	45950261	45950261	T	C	exonic	ZNF335	.	nonsynonymous SNV	ZNF335:NM_022095:exon22:c.A3445G:p.I1149V	.	418	1089	14	1	0	16	0.00729262	.	.	.	208667	not_specified|not_provided|ZNF335-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.068	0.00899988980791	0.0002	0.00159744	0.0008	9.798e-05	0.0004	0.0001	0	0.0006	0.0013	0.0047	0.0001552	24	154602	rs143113106	0.0006	0.0006	0.0005	0.0008	0.0046	0.0006	0.0006	0.0042	0.0041	9.498e-05	0.0004	4.649e-05	2.549e-05	9.878e-05	0.0030	0.0004	0.0009	0.0046	0.0004	0.0004	0.0003	0.0005	0.0062	0.0003	0.0003	0.0045	0.0039	7.218e-05	0	0.0003	0	0	0	0.0034	0.0003	0.0005	0.0062	0.001	0.78490	D	0.025	0.56192	D	0.985	0.61118	D	0.952	0.69102	D	0.000000	0.84330	D	0.000000	0.999961	0.52935	D	1.795	0.47270	L	3.06	0.08634	T	-0.27	0.11366	N	0.434	0.47301	-1.1076	0.03284	T	0.032	0.13548	T	10	0.008857846	0.00201	T	0.009	0.23702	T	0.068	0.19811	.	.	0.479518371956	0.47582	0.18307421158142345	0.18226	0.60149478984	0.55188	0.62885928154	0.56983	T	0.091753	0.38862	T	-0.450338	0.01124	T	-0.419252	0.31162	T	0.0541689350982694	0.06218	T	0.89771	0.64209	D	0.30317298	0.53187	0.19128355	0.42579	0.30317298	0.53187	0.19128355	0.42578	-3.031	0.10519	T	0.4789466605307448	0.55797	0.151	0.33435	B	.	.	3.886972	0.56536	23.7	0.99916462444390297	0.98449	0.97138	0.72912	D	AEFDBCI	0.594822	0.58961	D	0.484195710313345	0.66168	4.915221	0.509225164700833	0.68609	5.243758	0.999999998580457	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.86	4.86	0.62624	7.059000	0.76386	5.089000	0.47337	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.0:1.0	12.606	0.55881	757	0.50970	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001362	0.000000	0.000000	0.000000	0.006098	0.007576	0.08333	394.27	34	chr20	45950261	.	T	C	394.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.501;DP=211;ExcessHet=0;FS=15.925;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-1.508;SOR=0.669	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	5	0	1	1
chr20	49096393	49096393	G	T	exonic	CSE1L	.	nonsynonymous SNV	CSE1L:NM_001256135:exon24:c.G2703T:p.Q901H,CSE1L:NM_001316:exon25:c.G2871T:p.Q957H	.	437	1018	65	2	0	69	0.0327791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	.	0.0024	0.024361	0.0141	0.0010	0.0257	0.0359	0.0003	0.0038	0.0176	0.0501	0.0133828	2069	154602	rs35367415	0.0069	0.0069	0.0056	0.0082	0.0507	0.0068	0.0068	0.0494	0.0489	0.0005	0.0279	0.0068	0.0239	0.0004	0.0212	0.0024	0.0094	0.0507	0.0083	0.0083	0.0067	0.0100	0.0495	0.0079	0.0078	0.0443	0.0423	0.0007	0.0340	0.0349	0.0058	0.0390	9.422e-05	0.0102	0.0029	0.0038	0.0495	0.021	0.49117	D	0.114	0.36765	T	0.983	0.60381	D	0.838	0.60045	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.16	0.60381	M	0.84	0.47477	T	-1.65	0.40468	N	0.304	0.34336	-0.9840	0.34069	T	0.052	0.22037	T	10	0.0054074824	0.00119	T	.	.	.	0.179	0.44899	0.497	0.58678	.	.	0.5978688690700446	0.59717	0.889622572193	0.70165	0.793845057487	0.81027	T	0.195593	0.55171	T	-0.266501	0.12149	T	-0.118343	0.61938	T	0.0221931226238502	0.00931	T	0.954805	0.82790	D	0.2403951	0.46943	0.22393103	0.47289	0.2403951	0.46943	0.22393103	0.47288	-7.031	0.55689	T	.	.	0.197	0.41962	B	.;.	.;.	3.222032	0.43907	21.8	0.99774940421789449	0.86260	0.99146	0.91905	D	AEFDGBI	0.834112	0.75221	D	0.725296949977188	0.81291	7.487773	0.733458112093696	0.84919	8.427885	0.999992480145087	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	5.72	4.76	0.60189	6.490000	0.73552	3.450000	0.38440	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0704:0.0:0.9296:0.0	14.495	0.67264	888	0.27761	.;Exportin-2, C-terminal	.	.	.	.	rs35367415	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013092	0.000000	0.006793	0.005848	0.000000	0.008621	0.033537	0.015152	0.07143	524.83	33	chr20	49096393	.	G	T	524.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.15;DP=228;ExcessHet=0;FS=3.724;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=0.863;SOR=0.815	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1291	6	0	1	0
chr20	49249611	49249611	A	G	exonic	ZNFX1	.	nonsynonymous SNV	ZNFX1:NM_021035:exon14:c.T3413C:p.V1138A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549	0.0375138781942	.	.	9.886e-05	0	0	0.0014	0	0	0	0	7.76e-05	12	154602	rs139644193	2.052e-05	2.052e-05	2.178e-05	1.925e-05	0.0006	1.456e-05	1.264e-05	0.0004	0.0004	0	0	0	0.0006	0	0	8.993e-07	1.656e-05	4.637e-05	1.971e-05	1.97e-05	1.284e-05	2.69e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.381e-05	0	0	0	0	0.0006	0	0	0	0	0	0.653	0.04802	T	0.535	0.09931	T	0.678	0.41346	P	0.171	0.35348	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.26	0.31868	L	-1.43	0.80730	T	-1.46	0.35792	N	0.686	0.69213	-0.5103	0.68275	T	0.325	0.69367	T	10	0.16893443	0.31473	T	0.037514	0.57664	D	0.549	0.81310	0.42	0.46200	0.624800544692	0.62174	0.7166931901380775	0.71612	1.26387204846	0.82115	0.640071213245	0.58574	T	0.367247	0.73235	T	-0.0383481	0.46194	T	0.131606	0.78997	D	0.162690818665365	0.18068	T	0.811819	0.46320	T	0.20378561	0.42467	0.19443199	0.43066	0.20378561	0.42467	0.19443199	0.43065	-8.8	0.66400	D	.	.	0.163	0.36375	B	.;.	.;.	3.665522	0.52099	23.2	0.99515666996283092	0.68919	0.97850	0.77597	D	AEFDGBCI	0.805263	0.72990	D	0.301345708649119	0.56217	3.786172	0.430622931606641	0.63481	4.582735	0.999999998396028	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.575934	0.27490	0	0.735409	0.98432	0	.	.	5.41	5.41	0.78313	9.048000	0.93289	11.196000	0.88846	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	1.0:0.0:0.0:0.0	14.408	0.66663	900	0.24599	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1546.46	34	chr20	49249611	.	A	G	1546.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.83;DP=317;ExcessHet=0;FS=4.415;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-0.653;SOR=0.401	GT:AD:DP:GQ:PL	0/1:68,59:127:99:1557,0,1796	6	0	1	0
chr20	49257526	49257526	T	C	exonic	ZNFX1	.	nonsynonymous SNV	ZNFX1:NM_021035:exon8:c.A2555G:p.E852G	.	423	1035	61	3	0	67	0.0313524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	.	0.0022	0.0117812	0.0114	0.0007	0.0254	0.0005	0.0003	0.0038	0.0187	0.0489	0.0104785	1620	154602	rs61729993	0.0060	0.0060	0.0047	0.0073	0.0492	0.0059	0.0059	0.0480	0.0475	0.0004	0.0279	0.0069	0.0003	0.0004	0.0217	0.0023	0.0064	0.0492	0.0066	0.0067	0.0053	0.0081	0.0448	0.0063	0.0062	0.0399	0.0380	0.0006	0.0341	0.0345	0.0058	0.0006	9.455e-05	0.0102	0.0027	0.0028	0.0448	0.063	0.41096	T	0.33	0.18560	T	0.551	0.38139	P	0.173	0.35463	B	0.000223	0.47286	D	0.227351	0.999843	0.49770	D	2.405	0.69568	M	-1.93	0.86963	D	-1.46	0.45587	N	0.288	0.32591	-0.3997	0.72036	T	0.298	0.66942	T	10	0.0025114417	0.00038	T	.	.	.	0.317	0.63904	.	.	.	.	0.29978031344141376	0.29891	0.632512752951	0.57180	0.327229678631	0.14515	T	0.022836	0.78826	T	-0.313275	0.07462	T	-0.186269	0.55939	T	0.0239960551402502	0.01144	T	0.794521	0.43681	T	0.09753159	0.22990	0.081096716	0.18402	0.09753159	0.22990	0.081096716	0.18402	-4.766	0.34192	T	.	.	0.082	0.11027	B	.;.;.;.;.	.;.;.;.;.	3.335037	0.45925	22.2	0.99712483391067974	0.81423	0.89728	0.50381	D	AEFBCI	0.444547	0.50139	N	0.0644076902179102	0.44808	2.748149	0.172377636213799	0.48338	3.051171	0.999993072138066	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	4.68	0.58319	2.780000	0.47429	3.446000	0.38414	0.665000	0.62972	0.989000	0.36753	1.000000	0.68203	0.128000	0.19490	0.1339:0.0:0.0:0.8661	12.454	0.55031	894	0.26265	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014099	0.000000	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.07143	1647.44	34	chr20	49257526	.	T	C	1647.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.19;DP=317;ExcessHet=0;FS=0.717;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=0.598;SOR=0.839	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1211	6	0	1	0
chr20	49270713	49270713	T	C	exonic	ZNFX1	.	nonsynonymous SNV	ZNFX1:NM_021035:exon3:c.A1099G:p.I367V	.	428	1092	2	0	0	2	0.000914913	.	.	.	2386889	Inborn_genetic_diseases|ZNFX1-related_disorder	MeSH:D030342,MedGen:C0950123|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.177	0.0450363338624	0.0018	0.00139776	0.0018	0	0.0031	0.0001	0	0.0024	0.0011	0.0012	0.0017852	276	154602	rs147045723	0.0020	0.0020	0.0021	0.0020	0.0027	0.0020	0.0020	0.0023	0.0022	0.0002	0.0027	0.0051	0.0003	0.0001	0.0012	0.0022	0.0019	0.0013	0.0016	0.0016	0.0017	0.0014	0.0035	0.0014	0.0014	0.0028	0.0025	0.0004	0	0.0035	0.0061	0.0002	0	0	0.0021	0.0014	0.0006	1.0	0.00964	T	0.906	0.02996	T	0.0	0.02946	B	0.002	0.06944	B	0.089751	0.20411	N	0.538297	0.999966	0.18878	N	2.25	0.63811	M	-1.76	0.86010	D	-0.2	0.10136	N	0.075	0.04913	-0.9587	0.39424	T	0.288	0.65938	T	10	0.0056185126	0.00125	T	0.045036	0.61784	D	0.177	0.44549	.	.	0.399796912067	0.39594	0.23654515537348655	0.23569	0.325724220028	0.34721	0.256007313728	0.04426	T	0.012105	0.10698	T	-0.449385	0.01139	T	-0.415952	0.31539	T	0.0125154127867033	0.00207	T	0.59724	0.23503	T	0.026061611	0.01617	0.034628607	0.02563	0.026061611	0.01617	0.034628607	0.02563	-2.694	0.07253	T	.	.	0.054	0.00368	B	.;.;.;.;.	.;.;.;.;.	-1.198038	0.00532	0.012	0.45390093772023499	0.03559	0.10182	0.15759	N	AEFGBHCI	0.049540	0.08569	N	-1.76818139168855	0.00628	0.0270691	-1.79819495462947	0.00765	0.03411429	0.999999997512976	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.608884	0.39905	0	0.735409	0.98432	0	.	.	6.06	-8.76	0.00718	-1.888000	0.01707	-5.619000	0.01654	-1.854000	0.00568	0.001000	0.13787	0.000000	0.08366	0.947000	0.49155	0.0:0.2066:0.076:0.7174	14.904	0.70349	884	0.28482	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	408.83	42	chr20	49270713	.	T	C	408.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.49;DP=252;ExcessHet=0;FS=1.223;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=-0.729;SOR=0.889	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	6	0	1	0
chr20	50608696	50608696	G	A	exonic	RIPOR3	.	nonsynonymous SNV	RIPOR3:NM_001290268:exon10:c.C727T:p.R243W,RIPOR3:NM_080829:exon10:c.C715T:p.R239W	.	417	1092	13	0	0	13	0.00591716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	0.0030	0.00299521	0.0015	0.0089	0.0011	0	0.0006	0.0006	0.0033	0.0018	0.0014036	217	154602	rs146608853	0.0007	0.0007	0.0007	0.0008	0.0074	0.0007	0.0007	0.0067	0.0064	0.0074	0.0012	0.0003	2.519e-05	0.0003	0.0054	0.0004	0.0011	0.0024	0.0029	0.0029	0.0030	0.0028	0.0086	0.0027	0.0026	0.0078	0.0075	0.0086	0	0.0012	0	0.0002	0	0.0068	0.0007	0.0043	0.0012	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000038	0.55875	D	0.113950	0.999355	0.46766	D	.	.	.	4.24	0.02590	T	-6.45	0.91395	D	0.539	0.56662	-1.1321	0.01684	T	0.017	0.07092	T	10	0.014628202	0.00307	T	.	.	.	0.194	0.47447	.	.	0.188950314367	0.18478	0.7456769486626577	0.74513	0.147208149037	0.16604	0.401348888874	0.25256	T	0.23984	0.60804	T	-0.386566	0.02830	T	-0.32222	0.42332	T	0.0610925249243361	0.07339	T	0.90041	0.65400	D	0.66904294	0.76382	0.482499	0.70036	0.66904294	0.76383	0.482499	0.70036	-9.648	0.71778	D	.	.	0.178	0.38889	B	.;.	.;.	4.965140	0.82122	27.7	0.99852357759980759	0.93191	0.71609	0.35087	D	AEFBI	0.742646	0.68620	D	0.0389342769538542	0.43635	2.652567	-0.0476691694940398	0.37592	2.203088	8.56114553760182E-4	0.07917	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.08	1.68	0.23219	2.438000	0.44495	2.906000	0.35479	-0.279000	0.06446	1.000000	0.71638	1.000000	0.68203	0.718000	0.34707	0.0:0.0:0.3068:0.6932	12.240	0.53852	972	0.05671	FAM65, N-terminal;FAM65, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002520	0.000000	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1395.44	33	chr20	50608696	.	G	A	1395.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.9;DP=303;ExcessHet=0;FS=4.583;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=2.57;SOR=0.387	GT:AD:DP:GQ:PL	0/1:52,62:114:99:1406,0,1254	6	0	1	0
chr20	51516834	51516834	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1222C:p.G408R,NFATC2:NM_001258292:exon3:c.G1222C:p.G408R,NFATC2:NM_001258294:exon3:c.G625C:p.G209R,NFATC2:NM_001258295:exon3:c.G625C:p.G209R,NFATC2:NM_001258296:exon3:c.G625C:p.G209R,NFATC2:NM_001258297:exon3:c.G625C:p.G209R,NFATC2:NM_012340:exon3:c.G1282C:p.G428R,NFATC2:NM_173091:exon3:c.G1282C:p.G428R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.887	0.291469148357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.619e-05	0.0007	0.0001	7.042e-05	0.0001	8.278e-05	7.817e-05	9.981e-05	9.381e-05	6.002e-05	0	0	5.044e-05	0	0	0.0001	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.9	0.83903	M	-0.72	0.72994	T	-7.31	0.94511	D	0.952	0.97095	0.381	0.88810	D	0.611	0.86246	D	10	0.92848086	0.92191	D	0.291469	0.90578	D	0.887	0.96725	0.754	0.88402	0.90210233382	0.90113	0.8239515636362394	0.82352	1.30562062205	0.83120	0.866135060787	0.92011	D	0.671936	0.90273	D	0.39566	0.89663	D	0.330562	0.89533	D	0.997253000736237	0.91125	D	0.999394	0.99801	D	0.9024346	0.91602	0.87273586	0.93055	0.9024346	0.91603	0.87273586	0.93056	-12.284	0.86643	D	.	.	1.0	0.99952	P	.;.;.;.;.;.	.;.;.;.;.;.	5.540515	0.91959	32	0.99941663280488358	0.99797	0.98728	0.86094	D	AEFDBHI	0.897828	0.84044	D	0.916431156634983	0.92541	11.483	0.851822094425726	0.93121	11.83822	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	201.99	22	chr20	51516834	.	C	G	201.99	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-0.304;DP=235;ExcessHet=0.3476;FS=136.316;MLEAC=3;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.94;ReadPosRankSum=1.34;SOR=6.868	GT:AD:DP:GQ:PL	./.:27,0:27:0:0,0,386	1	0	2	4
chr20	51729952	51729952	C	A	exonic	ATP9A	.	nonsynonymous SNV	ATP9A:NM_006045:exon2:c.G95T:p.G32V	.	428	1050	41	3	0	47	0.021891	.	.	.	705551	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.205	.	0.0030	0.00599042	0.0064	0.0007	0.0018	0	0.0035	0.0045	0.0071	0.0297	0.005899	912	154602	rs142435125	0.0057	0.0057	0.0051	0.0063	0.0250	0.0056	0.0055	0.0241	0.0237	0.0004	0.0014	0.0163	2.613e-05	0.0025	0.0145	0.0046	0.0056	0.0250	0.0033	0.0033	0.0032	0.0034	0.0200	0.0031	0.0030	0.0167	0.0155	0.0007	0	0.0006	0.0147	0.0002	0.0030	0.0204	0.0040	0.0024	0.0200	0.17	0.22833	T	0.316	0.19362	T	0.57	0.38545	P	0.147	0.34014	B	0.000000	0.84330	D	0.000000	0.999996	0.81001	D	1.5	0.37844	L	0.59	0.53943	T	-2.17	0.49018	N	0.678	0.71055	-0.8359	0.52917	T	0.171	0.51309	T	10	0.0062817633	0.00142	T	.	.	.	0.205	0.49236	.	.	0.228066490088	0.22430	0.734965493781235	0.73441	1.03928217302	0.75733	0.783974707127	0.79528	T	0.122417	0.44607	T	-0.247686	0.14383	T	-0.109636	0.62642	T	0.0238870667430265	0.01130	T	0.940506	0.77585	D	0.29506063	0.52458	0.25470945	0.51141	0.29506063	0.52458	0.25470945	0.51140	-9.218	0.69089	D	.	.	0.152	0.33687	B	.;.	.;.	3.753699	0.53817	23.4	0.99419922879306388	0.63694	0.97975	0.78564	D	AEFDHI	0.864955	0.78390	D	0.27288617964197	0.54777	3.642689	0.404589802775665	0.61851	4.391058	0.9999999999934	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.27	5.27	0.73797	7.379000	0.78975	4.672000	0.44283	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:1.0:0.0:0.0	19.236	0.93848	958	0.09170	.;.	.	.	.	.	rs142435125	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009073	0.000000	0.005435	0.017544	0.000000	0.000000	0.009202	0.011364	0.07143	675.44	42	chr20	51729952	.	C	A	675.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.968;DP=260;ExcessHet=0;FS=2.26;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=-0.069;SOR=1.091	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1100	6	0	1	0
chr20	54028628	54028628	C	A	exonic	BCAS1	.	nonsynonymous SNV	BCAS1:NM_001316361:exon4:c.G487T:p.V163F,BCAS1:NM_001323347:exon4:c.G487T:p.V163F,BCAS1:NM_001366295:exon4:c.G487T:p.V163F,BCAS1:NM_001366296:exon4:c.G487T:p.V163F,BCAS1:NM_001366297:exon4:c.G487T:p.V163F,BCAS1:NM_001366298:exon4:c.G487T:p.V163F,BCAS1:NM_003657:exon4:c.G487T:p.V163F	.	429	1034	56	3	0	62	0.029108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0072	0.0121805	0.0122	0.0023	0.0054	0.0032	0.0023	0.0092	0.0143	0.0435	0.0110542	1709	154602	rs61754122	0.0082	0.0082	0.0068	0.0095	0.0435	0.0080	0.0080	0.0423	0.0419	0.0025	0.0055	0.0216	0.0013	0.0018	0.0244	0.0057	0.0100	0.0435	0.0068	0.0068	0.0064	0.0073	0.0425	0.0065	0.0063	0.0378	0.0359	0.0024	0	0.0058	0.0187	0.0021	0.0023	0.0238	0.0077	0.0085	0.0425	0.012	0.58626	D	0.046	0.49120	D	0.868	0.47740	P	0.32	0.41729	B	0.277183	0.15013	N	0.648898	1	0.08975	N	0.69	0.16971	N	3.3	0.06368	T	-1.09	0.28290	N	0.055	0.03175	-0.9612	0.38955	T	0.007	0.02598	T	10	0.0027716756	0.00043	T	.	.	.	0.067	0.19503	.	.	.	.	0.03992220136706161	0.03938	0.289761338798	0.31384	0.328943371773	0.14774	T	0.021546	0.16761	T	-0.480598	0.00733	T	-0.432422	0.29661	T	0.0165141970174594	0.00415	T	0.69603	0.30552	T	0.05788448	0.11576	0.05855628	0.10839	0.05788448	0.11576	0.05855628	0.10839	-6.569	0.50816	T	.	.	0.094	0.19235	B	.;.;.	.;.;.	1.223381	0.16175	12.37	0.99409088839058579	0.63169	0.09415	0.15175	N	AEFDBCI	0.158754	0.28445	N	-0.719141057650663	0.15484	0.7807461	-0.817846634436971	0.14063	0.7328977	0.999540203599691	0.40300	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.87	0.45	0.15835	0.146000	0.16000	0.467000	0.18675	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2632:0.4301:0.0:0.3067	2.756	0.04969	985	0.02828	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021148	0.020202	0.019022	0.017544	0.000000	0.008621	0.030488	0.022727	0.07143	1182.46	38	chr20	54028628	.	C	A	1182.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.137;DP=289;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.365;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1199	6	0	1	0
chr20	56497036	56497036	T	-	exonic	GCNT7	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	46.4	35	chr20	56497035	.	CT	C	46.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.619;DP=295;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.8;ReadPosRankSum=0.921;SOR=0.307	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,114,1800	6	0	1	0
chr20	56524998	56524998	C	T	exonic	FAM209A	.	nonsynonymous SNV	FAM209A:NM_001012971:exon1:c.C190T:p.L64F	.	431	1064	27	0	0	27	0.012529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00221928690667	.	.	0.0001	0.0002	0.0003	0	0	0.0001	0	0.0001	3.84e-05	1	26028	rs2019515	1.028e-05	0.0004	6.814e-06	1.378e-05	0.0001	6.17e-06	4.89e-06	5.428e-05	4.065e-05	0	0	0	2.519e-05	0	0	2.701e-06	3.317e-05	0.0001	1.981e-05	0.0003	0	4.056e-05	0.0002	5.27e-06	2.46e-06	4.91e-06	1.84e-06	0	0	0	0	0	0	0	2.959e-05	0	0.0002	0.612	0.05436	T	0.773	0.04431	T	0.002	0.09854	B	0.004	0.10090	B	0.300512	0.03952	N	1.580940	1	0.08975	N	0.895	0.22405	L	3.04	0.08810	T	0.08	0.06026	N	0.062	0.03392	-0.9840	0.34069	T	0.011	0.03949	T	10	0.02841866	0.00974	T	0.002219	0.04206	T	0.005	0.00259	.	.	0.0297737177859	0.01360	0.03433896955149916	0.03381	0.844967140893	0.68244	.	.	.	0.003816	0.03222	T	-0.372816	0.03454	T	-0.773301	0.02661	T	0.0671559348702431	0.08246	T	0.462454	0.13421	T	0.038233127	0.05054	0.049408853	0.07543	0.038233127	0.05053	0.049408853	0.07542	-4.498	0.30863	T	.	.	0.104	0.19032	B	.	.	-0.469087	0.01968	0.170	0.96523846478246433	0.30126	0.00138	0.00846	N	AEFDGBI	0.019902	0.00734	N	-1.56715141177652	0.01437	0.06267459	-1.58472377924509	0.01749	0.07952678	0.0122422385556242	0.12299	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.51	-3.08	0.05022	-2.308000	0.01212	-2.687000	0.03467	-0.189000	0.09497	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3755:0.2307:0.1287:0.2652	0.472	0.00497	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008560	0.040404	0.001359	0.002924	0.050000	0.000000	0.012195	0.007576	0.07143	409.44	34	chr20	56524998	.	C	T	409.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.34;DP=475;ExcessHet=0;FS=15.495;MLEAC=1;MLEAF=0.071;MQ=58.48;MQRankSum=-13.56;QD=1.48;ReadPosRankSum=-3.919;SOR=1.969	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1191:.	6	0	1	0
chr20	56525005	56525005	T	C	exonic	FAM209A	.	nonsynonymous SNV	FAM209A:NM_001012971:exon1:c.T197C:p.V66A	.	431	1066	25	0	0	25	0.0115902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00413359579284	.	.	0.0001	0.0002	0.0002	0	0	0.0001	0	0.0001	3.84e-05	1	26028	rs707554	1.164e-05	0.0002	8.172e-06	1.514e-05	0.0001	7.09e-06	5.8e-06	5.414e-05	4.055e-05	0	0	0	5.038e-05	1.874e-05	0	2.699e-06	3.314e-05	0.0001	2.637e-05	0.0003	2.578e-05	2.699e-05	0.0002	8.16e-06	5.15e-06	7.99e-06	2.99e-06	4.82e-05	0	0	0	0	0	0	1.476e-05	0	0.0002	0.222	0.18823	T	0.16	0.31427	T	0.0	0.02946	B	0.003	0.08700	B	0.971007	0.07778	N	1.017990	1	0.08975	N	1.295	0.32453	L	2.87	0.10386	T	-2.37	0.52289	N	0.136	0.13341	-0.9305	0.44066	T	0.022	0.09330	T	10	0.04262361	0.03030	T	0.004134	0.09900	T	0.095	0.27398	.	.	0.0138822411134	0.00435	0.11297937074249534	0.11225	0.256975690804	0.28266	.	.	.	0.01954	0.15549	T	-0.301829	0.08488	T	-0.671333	0.07523	T	0.0392241445291004	0.03550	T	0.368563	0.08641	T	0.049625613	0.08839	0.06962658	0.14694	0.049625613	0.08839	0.06962658	0.14694	-3.495	0.16361	T	.	.	0.069	0.03197	B	.	.	0.623466	0.09921	6.678	0.47635595541083875	0.03910	0.04211	0.09723	N	AEFDGBI	0.048429	0.08264	N	-1.39070259787422	0.02724	0.1207108	-1.34673273108721	0.03844	0.1801648	0.00889146502148676	0.11760	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.51	3.17	0.35510	0.454000	0.21539	1.500000	0.26949	-0.840000	0.02799	0.000000	0.06391	0.008000	0.19753	0.000000	0.00833	0.0:0.1709:0.0:0.8291	9.126	0.35973	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.020202	0.001359	0.000000	0.050000	0.000000	0.012195	0.007576	0.07143	217.44	34	chr20	56525005	.	T	C	217.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.99;DP=457;ExcessHet=0;FS=21.474;MLEAC=1;MLEAF=0.071;MQ=58.22;MQRankSum=-13.79;QD=0.81;ReadPosRankSum=-3.105;SOR=2.684	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1191:.	6	0	1	0
chr20	57175004	57175004	T	C	exonic	BMP7	.	nonsynonymous SNV	BMP7:NM_001719:exon5:c.A962G:p.N321S	.	421	1082	17	2	0	21	0.00961098	.	.	.	705564	not_provided|Congenital_total_pulmonary_venous_return_anomaly|BMP7-related_disorder	MedGen:C3661900|Human_Phenotype_Ontology:HP:0005153,Human_Phenotype_Ontology:HP:0005160,Human_Phenotype_Ontology:HP:0005175,MONDO:MONDO:0007130,MedGen:C4551903,OMIM:106700,Orphanet:99125|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.176	.	0.0018	0.00758786	0.0059	0.0008	0.0037	0.0003	0	0.0046	0.0051	0.0221	0.0051358	794	154602	rs61733438	0.0037	0.0037	0.0032	0.0041	0.0198	0.0036	0.0035	0.0172	0.0169	0.0011	0.0048	0.0161	5.04e-05	0.0002	0.0198	0.0024	0.0051	0.0179	0.0034	0.0034	0.0031	0.0037	0.0203	0.0032	0.0031	0.0170	0.0158	0.0008	0	0.0084	0.0127	0.0002	9.413e-05	0.0374	0.0028	0.0085	0.0203	0.742	0.08286	T	0.76	0.08900	T	0.0	0.28604	B	0.0	0.27859	B	0.000004	0.62929	N	0.139157	0.999999	0.58761	D	2.3	0.65703	M	-0.92	0.80214	T	-0.87	0.23590	N	0.198	0.21839	-0.8433	0.52426	T	0.174	0.51785	T	10	0.004758686	0.00109	T	.	.	.	0.176	0.44373	.	.	0.733870232206	0.73149	0.5379691657174063	0.53721	0.536218814805	0.50959	0.52202296257	0.41911	T	0.461817	0.79843	T	-0.461241	0.00966	T	-0.42038	0.31031	T	0.00601530324700459	0.00066	T	0.873613	0.58243	D	0.08295598	0.19135	0.05584124	0.09868	0.066140905	0.14201	0.05584124	0.09867	-1.466	0.01696	T	.	.	0.087	0.12797	B	.;.;.	.;.;.	1.185591	0.15766	12.09	0.31205754460880536	0.01746	0.76984	0.37803	D	AEFGBCI	0.388958	0.46837	N	-0.626331477560761	0.18157	0.940369	-0.491525585198468	0.22386	1.215639	0.946058912107186	0.27688	0.706298	0.61202	0	0.491513	0.07743	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.1	4.0	0.45673	3.760000	0.54947	4.215000	0.42557	-0.186000	0.09761	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.0761:0.0:0.9239	10.598	0.44537	963	0.08280	Transforming growth factor-beta, C-terminal;TGF-beta, propeptide|Transforming growth factor-beta, C-terminal;Transforming growth factor-beta, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.013595	0.005051	0.012228	0.026316	0.000000	0.017241	0.000000	0.018939	0.08333	846.27	34	chr20	57175004	.	T	C	846.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.452;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=0.482;SOR=0.674	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1212	5	0	1	1
chr20	57613163	57613163	C	T	exonic	ZBP1	.	nonsynonymous SNV	ZBP1:NM_001160418:exon4:c.G445A:p.G149S,ZBP1:NM_001323966:exon4:c.G445A:p.G149S,ZBP1:NM_001160417:exon5:c.G667A:p.G223S,ZBP1:NM_001160419:exon5:c.G670A:p.G224S,ZBP1:NM_030776:exon5:c.G670A:p.G224S	.	424	1043	53	2	0	57	0.0265982	.	.	.	705567	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.086	.	0.0065	0.00838658	0.0087	0.0016	0.0057	0.0003	0.0003	0.0094	0.0156	0.0200	0.0082858	1281	154602	rs41304401	0.0089	0.0089	0.0084	0.0094	0.0369	0.0087	0.0087	0.0329	0.0313	0.0019	0.0070	0.0114	0	0.0010	0.0369	0.0089	0.0100	0.0181	0.0072	0.0072	0.0072	0.0072	0.0149	0.0068	0.0067	0.0133	0.0127	0.0016	0.0022	0.0149	0.0104	0.0002	0.0004	0.0340	0.0095	0.0156	0.0135	0.05	0.40573	D	0.137	0.35455	T	0.938	0.52538	P	0.121	0.32300	B	0.000732	0.42129	D	0.000000	1	0.08975	N	1.115	0.28702	L	2.51	0.19311	T	-3.84	0.75058	D	0.15	0.16725	-1.0423	0.16621	T	0.015	0.05946	T	10	0.006138891	0.00138	T	.	.	.	0.086	0.25016	.	.	0.0954503805726	0.09146	0.2905044889027909	0.28963	0.0492264015574	0.05384	0.260742336512	0.04980	T	0.041566	0.25900	T	-0.611551	0.00124	T	-0.636291	0.09943	T	0.0344413448309581	0.02713	T	0.463454	0.13490	T	0.10971222	0.25937	0.10917021	0.26306	0.10971222	0.25937	0.10917021	0.26306	-3.215	0.18016	T	.	.	0.086	0.11558	B	.;.;.	.;.;.	1.213435	0.16064	12.29	0.98058157835877602	0.37921	0.09510	0.15250	N	AEFGBI	0.099376	0.20005	N	-0.780357890943715	0.13821	0.6837764	-0.914035834607524	0.11763	0.6012403	0.00280640418808576	0.09719	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.13	1.1	0.19578	0.353000	0.19868	0.577000	0.19666	-0.832000	0.02862	0.253000	0.24879	0.061000	0.22037	0.000000	0.00833	0.235:0.6344:0.0:0.1306	3.844	0.08435	812	0.42537	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.027190	0.035354	0.017663	0.064327	0.100000	0.034483	0.018293	0.015152	0.07143	1935.44	33	chr20	57613163	.	C	T	1935.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.69;DP=347;ExcessHet=0;FS=2.054;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.777;SOR=0.881	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1203	6	0	1	0
chr20	58228584	58228584	G	T	exonic	ANKRD60	.	nonsynonymous SNV	ANKRD60:NM_001304369:exon1:c.C70A:p.P24T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.0354911398342	.	.	.	.	.	.	.	.	.	.	.	.	.	rs891543592	4.572e-05	3.969e-05	3.775e-05	5.458e-05	0.0004	3.504e-05	3.134e-05	3.931e-05	3.509e-05	0	0	0	0	0	0.0004	5.158e-05	0	0	1.348e-05	1.979e-05	1.313e-05	1.384e-05	3.005e-05	2.24e-06	8.4e-07	4.99e-06	1.87e-06	0	0	0	0	0	0	0	3.005e-05	0	0	0.022	0.48642	D	0.032	0.53426	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.43	0.69657	T	-0.81	0.22294	N	0.126	0.11912	-0.9209	0.45431	T	0.177	0.52240	T	6	0.09960663	0.18086	T	0.035491	0.56377	D	0.102	0.29158	0.204	0.11936	0.218112801441	0.21410	0.20389641504994493	0.20306	.	.	.	.	.	0.003123	0.02525	T	-0.109704	0.34817	T	-0.395359	0.33925	T	0.0768259512700816	0.09576	T	0.348565	0.07715	T	0.07171298	0.15898	0.07454582	0.16320	0.07171298	0.15898	0.07454582	0.16320	-4.203	0.26795	T	.	.	0.088	0.11749	B	.	.	1.557041	0.19948	14.52	0.8829482705637629	0.17865	0.04144	0.09629	N	AEFDBHCI	0.024119	0.01444	N	-0.672940284167096	0.16795	0.8588326	-0.878624652354604	0.12601	0.6491425	0.999998772961418	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	2.88	-0.299	0.12173	0.236000	0.17745	0.177000	0.15587	0.477000	0.22036	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.2806:0.2409:0.4785:0.0	3.027	0.05725	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	93.68	6	chr20	58228584	.	G	T	93.68	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.398;DP=33;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=-0.221;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,4:9:99:103,0,115	5	0	1	1
chr20	58853749	58853749	A	G	exonic	GNAS	.	nonsynonymous SNV	GNAS:NM_080425:exon1:c.A484G:p.M162V	ACTH-independent macronodular adrenal hyperplasia, Isolated cases;Acromegaly, somatic;McCune-Albright syndrome, somatic, mosaic;Osseous heteroplasia, progressive, Autosomal dominant;Pseudohypoparathyroidism Ia, Autosomal dominant;Pseudohypoparathyroidism Ib, Autosomal dominant;Pseudohypoparathyroidism Ic, Autosomal dominant;Pseudopseudohypoparathyroidism, Autosomal dominant	0	1484	38	0	0	38	0.0126414	.	.	.	138230	not_specified|McCune-Albright_syndrome|Progressive_osseous_heteroplasia|Pituitary_adenoma_3,_multiple_types|Pseudohypoparathyroidism_type_1C|ACTH-independent_macronodular_adrenal_hyperplasia_1|Pseudohypoparathyroidism_type_I_A|Pseudohypoparathyroidism_type_1B|Pseudopseudohypoparathyroidism|not_provided	MedGen:CN169374|MONDO:MONDO:0018919,MedGen:C0242292,OMIM:174800,Orphanet:562|Human_Phenotype_Ontology:HP:0025027,MONDO:MONDO:0008153,MedGen:C0334041,OMIM:166350,Orphanet:2762|MONDO:MONDO:0054665,MedGen:C4540135,OMIM:617686|MONDO:MONDO:0012911,MedGen:C2932716,OMIM:612462,Orphanet:79444|MONDO:MONDO:0020735,MedGen:C1857451,OMIM:219080|MONDO:MONDO:0007078,MedGen:C3494506,OMIM:103580,Orphanet:79443|MONDO:MONDO:0011301,MedGen:C1864100,OMIM:603233,Orphanet:94089|MONDO:MONDO:0012912,MedGen:C0033835,OMIM:612463,Orphanet:79445|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.203	0.0949466166271	0.0019	0.00199681	0.0029	0.0003	0.0010	0.0001	0.0008	0.0027	0.0047	0.0084	0.0026132	404	154602	rs138731520	0.0028	0.0028	0.0026	0.0029	0.0071	0.0027	0.0027	0.0066	0.0064	0.0004	0.0016	0.0033	7.557e-05	0.0007	0.0071	0.0027	0.0026	0.0071	0.0020	0.0020	0.0020	0.0021	0.0052	0.0018	0.0018	0.0036	0.0031	0.0006	0.0011	0.0029	0.0035	0	0.0007	0.0034	0.0027	0.0043	0.0052	0.121	0.30515	T	0.04	0.50809	D	0.03	0.20002	B	0.019	0.18783	B	.	.	.	.	1	0.81001	D	1.7	0.43825	L	-2.5	0.89219	D	-0.56	0.24460	N	0.285	0.39861	-0.5439	0.67016	T	0.488	0.80496	T	9	0.007057309	0.00160	T	0.094947	0.76342	D	0.203	0.48915	.	.	0.639683211758	0.63671	0.31735799233520745	0.31648	0.414400824624	0.42123	0.505955815315	0.39657	T	0.310332	0.68230	T	-0.310884	0.07670	T	-0.215614	0.53157	T	0.00521878172385827	0.00056	T	0.630137	0.25265	T	0.10605981	0.25077	0.20907132	0.45236	0.1357147	0.31486	0.23530838	0.48770	-6.069	0.47117	T	0.6870914745616232	0.76430	0.209	0.47382	B	.;.;.	.;.;.	2.289382	0.29282	18.07	0.95461722188939713	0.26997	0.64551	0.32443	D	AEFDBCI	0.118686	0.23197	N	-0.423884643905183	0.24634	1.331532	-0.306067365517828	0.27903	1.551647	0.999982082156287	0.51787	0.764865	0.99124	0	0.563428	0.19063	0	0.731555	0.93304	0	0.63947	0.58350	0	.	.	4.8	2.5	0.29355	0.817000	0.26938	3.285000	0.37261	0.756000	0.94297	0.911000	0.31706	0.986000	0.30841	0.997000	0.79791	0.8027:0.0:0.1973:0.0	6.779	0.22821	955	0.09969	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.008152	0.000000	0.000000	0.000000	0.006098	0.003788	0.07143	1076.44	33	chr20	58853749	.	A	G	1076.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.363;DP=273;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=1.08;SOR=0.717	GT:AD:DP:GQ:PL	0/1:46,42:88:99:1087,0,1181	6	0	1	0
chr20	59193460	59193460	G	A	exonic	ZNF831	.	nonsynonymous SNV	ZNF831:NM_178457:exon2:c.G2441A:p.G814E,ZNF831:NM_001384354:exon4:c.G2441A:p.G814E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00469392933205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.868e-07	3.42e-06	0	1.381e-06	1.175e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.175e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.084	0.41239	T	0.89	0.48942	P	0.286	0.40541	B	0.038335	0.24298	N	0.352176	1	0.08975	N	0.46	0.12951	N	3.43	0.05440	T	-1.33	0.33197	N	0.194	0.21319	-0.9690	0.37407	T	0.012	0.04558	T	10	0.11230981	0.21062	T	0.004694	0.11660	T	0.035	0.08770	0.265	0.21103	0.228597637076	0.22478	0.04750863671082918	0.04693	0.349277998776	0.36782	0.296025931835	0.09810	T	0.00547	0.04921	T	-0.242692	0.15008	T	-0.586387	0.13980	T	0.252594918012619	0.22989	T	0.515548	0.16619	T	0.07879004	0.17963	0.09505068	0.22525	0.07879004	0.17962	0.09505068	0.22525	-3.429	0.15449	T	.	.	0.137	0.29968	B	.;.	.;.	0.740140	0.11095	7.743	0.79074385388574853	0.12579	0.08295	0.14243	N	AEFDBI	0.096616	0.19501	N	-0.564600738046493	0.20028	1.052788	-0.683543631221881	0.17371	0.9234229	1.55852163463679E-4	0.05650	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	5.06	1.9	0.24770	0.794000	0.26619	0.946000	0.22888	-0.124000	0.13482	0.014000	0.18986	0.977000	0.30130	0.001000	0.02609	0.0821:0.0:0.6024:0.3155	6.919	0.23554	993	0.01300	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1174.46	26	chr20	59193460	.	G	A	1174.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.335;DP=276;ExcessHet=0;FS=2.019;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.87;ReadPosRankSum=0.675;SOR=0.543	GT:AD:DP:GQ:PL	0/0:59,0:59:99:0,120,1800	6	0	1	0
chr20	59868873	59868873	G	A	exonic	SYCP2	.	nonsynonymous SNV	SYCP2:NM_014258:exon37:c.C3794T:p.T1265M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00595801247156	.	.	1.66e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs776127429	6.858e-06	6.84e-06	4.094e-06	9.65e-06	7.589e-05	3.47e-06	2.53e-06	2.012e-05	1.058e-05	6.02e-05	0	0	7.589e-05	1.877e-05	0	3.604e-06	0	0	1.319e-05	1.314e-05	2.577e-05	0	2.418e-05	2.19e-06	8.2e-07	.	.	2.418e-05	0	0	0	0	0	0	1.476e-05	0	0	0.352	0.15251	T	0.118	0.36233	T	0.005	0.12996	B	0.004	0.10090	B	0.257073	0.03684	N	1.470240	1	0.08975	N	0.145	0.08828	N	2.55	0.13795	T	-0.24	0.10833	N	0.098	0.07949	-0.9901	0.32576	T	0.017	0.06855	T	10	0.05678758	0.06420	T	0.005958	0.15549	T	0.016	0.02506	0.232	0.16005	0.082315109003	0.07666	0.07562257538560342	0.07498	0.0294204365103	0.03026	0.245568484068	0.03316	T	0.069006	0.33601	T	-0.538417	0.00342	T	-0.719027	0.04843	T	0.0543728583249622	0.06252	T	0.286671	0.06419	T	0.018056054	0.00327	0.0364378	0.03089	0.018056054	0.00327	0.0364378	0.03089	-4.583	0.31957	T	.	.	0.080	0.19879	B	.;.;.	.;.;.	-1.714626	0.00189	0.003	0.6347028470255246	0.07232	0.00542	0.02495	N	AEFI	0.039330	0.05696	N	-1.77554164132331	0.00608	0.02619458	-1.84838476807948	0.00616	0.02738623	0.195501857837644	0.18053	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.57	-7.81	0.01074	-1.510000	0.02366	-2.226000	0.04031	-6.725000	0.00003	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.184:0.0:0.7071:0.109	12.353	0.54488	994	0.00715	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1493.45	33	chr20	59868873	.	G	A	1493.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.62;DP=322;ExcessHet=0;FS=0.606;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=1.13;SOR=0.636	GT:AD:DP:GQ:PL	0/1:79,68:147:99:1504,0,1670	6	0	1	0
chr20	59880392	59880392	A	G	exonic	SYCP2	.	nonsynonymous SNV	SYCP2:NM_014258:exon31:c.T2852C:p.I951T	.	491	1010	19	2	0	23	0.011258	.	.	.	742490	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.080	.	0.0023	0.00279553	0.0075	0.0028	0.0026	0.0002	0.0015	0.0053	0.0129	0.0242	0.004269	660	154602	rs151163205	0.0033	0.0033	0.0027	0.0039	0.0199	0.0032	0.0032	0.0191	0.0188	0.0018	0.0014	0.0110	2.54e-05	0.0011	0.0141	0.0021	0.0036	0.0199	0.0028	0.0028	0.0026	0.0029	0.0170	0.0026	0.0025	0.0140	0.0129	0.0020	0	0.0009	0.0118	0.0002	0.0008	0	0.0028	0.0024	0.0170	0.002	0.72154	D	0.089	0.40426	T	0.873	0.47975	P	0.523	0.48316	P	0.115937	0.19214	N	0.526307	0.675527	0.33183	D	2.36	0.67893	M	1.99	0.25996	T	-1.73	0.41428	N	0.549	0.57518	-0.8524	0.51802	T	0.085	0.33071	T	10	0.0054754317	0.00121	T	.	.	.	0.080	0.23350	.	.	0.198222871337	0.19423	0.1296067380900451	0.12885	0.181139919638	0.20371	0.383799672127	0.22794	T	0.325304	0.69603	T	-0.426602	0.01555	T	-0.370624	0.36816	T	0.0361782947290068	0.03013	T	0.759724	0.39899	T	0.17678405	0.38609	0.18749948	0.41986	0.17678405	0.38609	0.18749948	0.41985	-3.604	0.17915	T	.	.	0.366	0.65087	A	.;.;.	.;.;.	3.250656	0.44415	21.9	0.99779029259715812	0.86606	0.89916	0.50699	D	AEDI	0.323592	0.42573	N	0.398077559212782	0.61317	4.331235	0.410644987295162	0.62227	4.434644	0.00395175141296271	0.10355	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.92	4.76	0.60189	4.616000	0.60900	6.810000	0.56646	0.691000	0.84096	0.986000	0.36153	0.976000	0.30059	0.975000	0.56047	0.8401:0.1599:0.0:0.0	10.685	0.45037	994	0.00715	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.008577	0.000000	0.008174	0.005882	0.000000	0.008621	0.006098	0.022727	0.1429	1695.65	32	chr20	59880392	.	A	G	1695.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.549;DP=263;ExcessHet=0.3476;FS=4.216;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=1.24;SOR=1.073	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1002	5	0	2	0
chr20	59892042	59892042	T	G	exonic	SYCP2	.	nonsynonymous SNV	SYCP2:NM_014258:exon24:c.A2312C:p.E771A	.	459	1049	11	3	0	17	0.00803783	.	.	.	2476868	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.004	0.0041464142265	0.0018	0.00359425	0.0028	0.0003	0.0020	0	0	0.0026	0.0033	0.0088	0.0026778	414	154602	rs117549957	0.0026	0.0026	0.0024	0.0029	0.0094	0.0026	0.0025	0.0080	0.0078	0.0004	0.0024	0.0073	0	5.639e-05	0.0094	0.0023	0.0033	0.0086	0.0021	0.0021	0.0021	0.0021	0.0052	0.0019	0.0018	0.0036	0.0031	0.0003	0	0.0030	0.0072	0	9.418e-05	0.0272	0.0028	0.0052	0.0052	0.725	0.04443	T	0.737	0.05036	T	0.006	0.13644	B	0.004	0.10090	B	0.707332	0.10043	N	0.876643	1	0.08975	N	0.69	0.16971	N	2.48	0.18248	T	-0.15	0.10833	N	0.069	0.06720	-0.9474	0.41414	T	0.013	0.05273	T	10	0.0046943426	0.00099	T	0.004146	0.09931	T	0.004	0.00165	.	.	0.043077524339	0.03247	0.15897107292305326	0.15818	0.0303572808084	0.03137	0.230584919453	0.02011	T	0.080479	0.36372	T	-0.653147	0.00069	T	-0.704721	0.05572	T	0.00172586463314303	0.00018	T	0.643236	0.25495	T	0.03463505	0.03925	0.031656172	0.01785	0.03463505	0.03924	0.031656172	0.01784	-4.121	0.25599	T	.	.	0.096	0.19438	B	.;.;.	.;.;.	0.149478	0.05419	1.894	0.32628396023178846	0.01901	0.03423	0.08551	N	AEFI	0.066263	0.12968	N	-1.26149894413797	0.04149	0.1867449	-1.2456061327886	0.05196	0.2470095	5.05074692332387E-5	0.03989	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.32	-0.432	0.11678	-0.564000	0.06027	0.080000	0.14378	-1.309000	0.01237	0.000000	0.06391	0.000000	0.08366	0.589000	0.31115	0.2797:0.4687:0.0:0.2516	3.956	0.08887	994	0.00715	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.017623	0.000000	0.020380	0.023392	0.050000	0.051724	0.012195	0.011364	0.07143	616.49	69	chr20	59892042	.	T	G	616.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.52;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=-0.462;SOR=0.635	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1297	6	0	1	0
chr20	59939439	59939439	C	T	exonic	PPP1R3D	.	nonsynonymous SNV	PPP1R3D:NM_006242:exon1:c.G493A:p.A165T	.	431	1071	19	1	0	21	0.00970874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0313602730276	0.0017	0.00359425	0.0029	0.0001	0.0020	0	0	0.0026	0.0025	0.0084	0.002445	378	154602	rs149736385	0.0026	0.0026	0.0024	0.0029	0.0092	0.0025	0.0025	0.0080	0.0078	0.0004	0.0024	0.0073	0	7.766e-05	0.0092	0.0023	0.0032	0.0085	0.0021	0.0021	0.0021	0.0021	0.0052	0.0019	0.0018	0.0036	0.0031	0.0003	0	0.0032	0.0072	0	9.411e-05	0.0272	0.0028	0.0057	0.0052	0.538	0.06847	T	0.565	0.08961	T	0.001	0.07471	B	0.001	0.04355	B	0.901394	0.07358	N	1.056550	0.735285	0.29789	N	1.175	0.29870	L	0.51	0.55439	T	-0.57	0.17210	N	0.063	0.03502	-1.0397	0.17404	T	0.047	0.19998	T	10	0.0023865998	0.00035	T	0.03136	0.53460	D	0.029	0.06676	.	.	0.48505662038	0.48136	0.18719301782112324	0.18637	0.783494048791	0.65400	0.42191067338	0.28099	T	0.011707	0.10405	T	-0.616636	0.00115	T	-0.652417	0.08785	T	0.00182093008429166	0.00019	T	0.474753	0.14169	T	0.050027553	0.08975	0.06288651	0.12375	0.050027553	0.08974	0.06288651	0.12375	-5.27	0.39645	T	.	.	0.079	0.07412	B	.	.	1.819671	0.23120	15.89	0.98549616485174141	0.42833	0.23289	0.22028	N	AEFDGBHCI	0.101186	0.20330	N	-1.00173789304803	0.08567	0.4022025	-0.948997271987702	0.10946	0.5546428	0.999999997774422	0.74766	0.455138	0.09556	0	0.405561	0.06353	1	0.503968	0.08637	0	0.56751	0.32155	0	.	.	5.16	-0.983	0.09738	0.156000	0.16200	1.588000	0.27514	0.597000	0.34315	0.029000	0.20367	0.999000	0.35428	0.979000	0.57723	0.3147:0.3622:0.0946:0.2285	1.585	0.02484	993	0.01300	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016633	0.000000	0.017663	0.023392	0.050000	0.051724	0.012270	0.011364	0.07143	1215.46	89	chr20	59939439	.	C	T	1215.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.113;DP=271;ExcessHet=0;FS=0.807;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=0.667;SOR=0.539	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1207	6	0	1	0
chr20	59970142	59970142	C	A	exonic	CDH26	.	nonsynonymous SNV	CDH26:NM_177980:exon3:c.C187A:p.L63M	.	423	1087	12	0	0	12	0.00548948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.0132419513268	0.0008	0.00179712	0.0010	0.0012	0.0006	0	0	0.0012	0.0033	0.0008	0.001022	158	154602	rs144755899	0.0009	0.0009	0.0008	0.0009	0.0279	0.0008	0.0008	0.0244	0.0231	0.0015	0.0013	7.653e-05	2.52e-05	5.616e-05	0.0279	0.0007	0.0015	0.0008	0.0010	0.0010	0.0010	0.0009	0.0012	0.0008	0.0008	0.0009	0.0008	0.0009	0	0.0012	0	0	0	0.0238	0.0011	0.0024	0.0010	0.004	0.65419	D	0.0	0.92824	D	.	.	.	.	.	.	0.012372	0.29198	N	0.268581	0.93439	0.37086	D	2.18	0.61292	M	0.22	0.59851	T	-1.18	0.30140	N	0.427	0.46649	-0.7704	0.56836	T	0.178	0.52287	T	10	0.010869712	0.00240	T	0.013242	0.32488	T	0.170	0.43303	.	.	0.76025967099	0.75808	0.5230284471288537	0.52226	0.600408321793	0.55127	0.490655899048	0.37530	T	0.003458	0.02869	T	-0.356608	0.04326	T	-0.325552	0.41964	T	0.038357544089897	0.03395	T	0.307569	0.05925	T	0.1279862	0.29934	0.11669233	0.28171	0.1279862	0.29934	0.11669233	0.28170	-8.26	0.62828	D	.	.	0.190	0.40858	B	.	.	3.344921	0.46112	22.2	0.9967518381810796	0.78846	0.88445	0.48376	D	AEFGI	0.146199	0.26959	N	0.209790136885908	0.51672	3.346744	0.189724876183236	0.49282	3.133364	0.856247417677525	0.25139	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	4.43	3.49	0.39065	0.722000	0.25595	0.124000	0.14956	0.596000	0.33519	0.982000	0.35529	0.006000	0.19429	0.991000	0.66497	0.0:0.8113:0.0:0.1887	8.221	0.30703	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018145	0.010101	0.020436	0.067251	0.000000	0.000000	0.000000	0.000000	0.07143	1536.44	34	chr20	59970142	.	C	A	1536.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.032;DP=320;ExcessHet=0;FS=0.624;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.928;SOR=0.758	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1213	6	0	1	0
chr20	61894913	61894913	G	T	exonic	CDH4	.	nonsynonymous SNV	CDH4:NM_001252338:exon7:c.G943T:p.V315F,CDH4:NM_001252339:exon7:c.G832T:p.V278F,CDH4:NM_001794:exon8:c.G1054T:p.V352F	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.438	0.0611923901714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	1.368e-06	0	2.755e-06	8.999e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.999e-07	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.17821	T	0.16	0.34124	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.63	0.41750	L	0.67	0.52187	T	-2.66	0.56945	D	0.862	0.85979	-0.7538	0.57736	T	0.227	0.59146	T	9	0.8321738	0.82378	D	0.061192	0.68251	D	0.438	0.74235	0.618	0.75232	0.736949025373	0.73459	0.7982000183815768	0.79773	.	.	0.698626756668	0.66946	T	0.19984	0.55723	T	0.18075	0.72112	D	0.0218579	0.71750	D	0.991166293621063	0.81426	D	0.820118	0.69400	T	0.45409343	0.64300	0.32969096	0.58846	0.45409343	0.64301	0.32969096	0.58845	-9.26	0.69356	D	0.5889003213050071	0.65568	0.264	0.49845	B	.;.;.	.;.;.	5.029994	0.83658	28.1	0.99358213576641208	0.60904	0.98202	0.80493	D	AEFGBI	0.883909	0.81318	D	0.647298428698634	0.76194	6.441669	0.643854497426231	0.78156	6.819493	0.999999942649474	0.74766	0.536767	0.22168	0	0.547309	0.14657	0	0.383324	0.06259	0	0.567892	0.33627	0	.	.	4.6	4.6	0.56512	9.214000	0.94249	11.444000	0.92776	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	17.395	0.87332	940	0.13648	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1464.44	36	chr20	61894913	.	G	T	1464.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.326;DP=298;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.006;SOR=0.648	GT:AD:DP:GQ:PL	0/1:56,57:113:99:1475,0,1382	6	0	1	0
chr20	62310789	62310789	G	A	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon75:c.C10322T:p.T3441M	.	394	1118	9	1	0	11	0.00489542	.	.	.	590918	Short_stature|LAMA5-related_disorder|not_provided	Human_Phenotype_Ontology:HP:0001509,Human_Phenotype_Ontology:HP:0003501,Human_Phenotype_Ontology:HP:0003507,Human_Phenotype_Ontology:HP:0003512,Human_Phenotype_Ontology:HP:0003518,Human_Phenotype_Ontology:HP:0003519,Human_Phenotype_Ontology:HP:0004322,Human_Phenotype_Ontology:HP:0008871,Human_Phenotype_Ontology:HP:0008882,Human_Phenotype_Ontology:HP:0008888,Human_Phenotype_Ontology:HP:0008913,MedGen:C0349588|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.362	0.162895648549	.	0.000998403	0.0008	0	0.0004	0	0	0.0007	0.0026	0.0026	0.0005239	81	154602	rs200093098	0.0004	0.0004	0.0003	0.0004	0.0058	0.0003	0.0003	0.0042	0.0037	0.0001	0.0006	0	5.219e-05	0	0.0058	0.0003	0.0005	0.0016	0.0004	0.0004	0.0004	0.0004	0.0019	0.0003	0.0003	0.0010	0.0007	2.409e-05	0	0.0007	0	0	0	0.0068	0.0005	0.0014	0.0019	0.004	0.65419	D	0.065	0.44702	T	0.621	0.39935	P	0.125	0.32635	B	0.585258	0.11104	N	0.815382	1	0.08975	N	-0.345	0.03330	N	-1.2	0.78537	T	-0.3	0.11913	N	0.298	0.33687	-0.8592	0.51320	T	0.188	0.53856	T	10	0.018012106	0.00388	T	0.162896	0.84236	D	0.362	0.68230	.	.	0.63274594377	0.62973	0.4431107411782822	0.44229	.	.	0.329213798046	0.14816	T	0.09394	0.39314	T	-0.364043	0.03907	T	-0.314714	0.43150	T	0.0339722888738369	0.02633	T	0.565643	0.19997	T	0.034376018	0.03846	0.046085086	0.06345	0.034376018	0.03846	0.046085086	0.06345	-1.9	0.02825	T	.	.	0.101	0.17445	B	.	.	-0.278810	0.02711	0.356	0.99218186797894758	0.55808	0.01971	0.05969	N	AEFDBCIJ	0.048997	0.08421	N	-1.20567966478731	0.04916	0.2229203	-1.37576801933907	0.03512	0.1639716	0.999998790565678	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.75	-7.61	0.01158	-0.580000	0.05920	-0.551000	0.08528	-0.129000	0.13216	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.7693:0.1085:0.1221:0.0	11.534	0.49877	779	0.47767	Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.010142	0.005155	0.012329	0.020958	0.000000	0.000000	0.003086	0.007634	0.07143	902.63	35	chr20	62310789	.	G	A	902.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.06;DP=275;ExcessHet=0;FS=9.006;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.018;SOR=0.978	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1455	6	0	1	0
chr20	62310946	62310946	G	T	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon74:c.C10237A:p.R3413S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.0932665650699	.	.	.	.	.	.	.	.	.	.	.	.	.	rs536483551	1.371e-06	2.052e-06	0	2.756e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.249	0.23776	T	0.134	0.27266	B	0.028	0.21332	B	0.030739	0.25267	N	0.426677	1	0.08975	N	1.775	0.45938	L	-1.15	0.77964	T	-1.85	0.43334	N	0.361	0.40264	-0.6556	0.62469	T	0.315	0.68460	T	10	0.24062446	0.41225	T	0.093267	0.76042	D	0.278	0.59497	0.483	0.56462	0.721563950377	0.71911	0.36756140015395466	0.36670	.	.	0.24202914536	0.02976	T	0.132463	0.46257	T	0.00590523	0.52466	T	-0.229294	0.51840	T	0.104604232592324	0.12855	T	0.547645	0.18800	T	0.19031718	0.40612	0.1332156	0.31948	0.19031718	0.40611	0.1332156	0.31948	-3.975	0.23428	T	.	.	0.276	0.50943	B	.	.	1.849608	0.23498	16.04	0.9760629695634363	0.34881	0.08292	0.14240	N	AEFDBCI	0.099745	0.20071	N	-0.569151546316348	0.19887	1.044325	-0.584800780602555	0.19888	1.069133	0.999927798452538	0.46280	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	4.69	3.67	0.41236	1.924000	0.39695	6.368000	0.55519	0.616000	0.49467	0.784000	0.29521	1.000000	0.68203	0.111000	0.18785	0.0:0.0:0.8296:0.1704	12.281	0.54081	779	0.47767	Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	832.63	35	chr20	62310946	.	G	T	832.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.02;DP=252;ExcessHet=0;FS=3.514;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.451;SOR=1.037	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1455	6	0	1	0
chr20	62312300	62312300	G	A	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon69:c.C9377T:p.T3126I	.	427	1091	4	0	0	4	0.00182983	.	.	.	705591	LAMA5-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.149	0.0292301070555	0.0028	0.00119808	0.0022	0.0006	0.0007	0	0.0010	0.0033	0.0013	0.0015	0.0019857	307	154602	rs149357675	0.0029	0.0029	0.0029	0.0030	0.0036	0.0029	0.0028	0.0035	0.0034	0.0007	0.0008	0.0002	0	0.0004	0.0017	0.0036	0.0023	0.0014	0.0020	0.0020	0.0024	0.0016	0.0036	0.0018	0.0018	0.0033	0.0031	0.0008	0	0.0008	0	0	0.0003	0.0034	0.0036	0.0019	0.0012	0.044	0.41096	D	0.026	0.55759	D	0.968	0.56581	D	0.554	0.49340	P	0.015163	0.28322	N	0.385833	0.999872	0.19925	N	1.79	0.46772	L	0.89	0.45636	T	-3.09	0.63438	D	0.504	0.53620	-0.8966	0.48331	T	0.113	0.40284	T	10	0.013069451	0.00278	T	0.02923	0.51775	D	0.149	0.39377	.	.	0.594341913235	0.59113	0.55356763022503	0.55282	.	.	0.524103164673	0.42204	T	0.197023	0.55357	T	-0.415707	0.01823	T	-0.366603	0.37285	T	0.0312924673194023	0.02193	T	0.70113	0.31087	T	0.11412419	0.26945	0.110459395	0.26634	0.11412419	0.26944	0.110459395	0.26634	-9.178	0.68836	D	.	.	0.175	0.38281	B	.	.	2.842919	0.37510	20.5	0.99726396345957902	0.82406	0.22371	0.21724	N	AEFDGBCI	0.147492	0.27118	N	0.0616029661335656	0.44679	2.737484	-0.0217790638378009	0.38732	2.286277	0.999982517269148	0.51787	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.06	4.06	0.46572	1.162000	0.31396	9.695000	0.81285	0.674000	0.70861	0.003000	0.16062	1.000000	0.68203	0.785000	0.37106	0.0:0.1579:0.5358:0.3064	7.163	0.24849	774	0.48577	Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002016	0.000000	0.004087	0.000000	0.000000	0.000000	0.003067	0.000000	0.07143	1037.83	34	chr20	62312300	.	G	A	1037.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.14;DP=281;ExcessHet=0;FS=2.574;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=-0.456;SOR=0.965	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,106,1281	6	0	1	0
chr20	62326700	62326700	G	A	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon40:c.C5275T:p.R1759C	.	417	1104	1	0	0	1	0.000452694	.	.	.	1910562	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.175	0.0480241848217	7.7e-05	.	5.038e-05	0	0	0	0	9.206e-05	0	0	3.88e-05	6	154602	rs369951035	5.341e-05	5.404e-05	5.586e-05	5.093e-05	6.297e-05	4.348e-05	4.021e-05	5.075e-05	4.654e-05	0	4.474e-05	0	5.038e-05	0	0	6.297e-05	4.972e-05	1.159e-05	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.046	0.40573	D	0.053	0.47336	T	0.99	0.63424	D	0.659	0.52771	P	0.379382	0.04411	N	1.368230	0.999997	0.08975	N	2.69	0.78713	M	1.2	0.37405	T	-3.45	0.67589	D	0.312	0.35194	-0.9523	0.40573	T	0.175	0.51848	T	10	0.2708233	0.44617	T	0.048024	0.63188	D	0.175	0.44197	.	.	0.530891212371	0.52736	0.3409756056315048	0.34010	.	.	0.210453659296	0.00831	T	0.107012	0.41886	T	-0.278064	0.10873	T	-0.432646	0.29636	T	0.334159167389386	0.26391	T	0.813419	0.46649	T	0.22348557	0.44970	0.15457304	0.36272	0.22348557	0.44970	0.15457304	0.36271	-9.2	0.68974	D	.	.	0.161	0.35498	B	.	.	4.051298	0.60047	24.2	0.99889006369229416	0.96359	0.73712	0.36055	D	AEFGBHCI	0.341210	0.43777	N	0.176746732921328	0.50083	3.201889	0.0674141164238564	0.42922	2.604778	0.98779162983173	0.31344	0.706548	0.73137	0	0.547309	0.14657	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.12	4.11	0.47350	1.319000	0.33260	9.453000	0.80852	0.676000	0.76740	0.733000	0.28953	1.000000	0.68203	0.028000	0.12845	0.0:0.1884:0.691:0.1206	11.580	0.50142	779	0.47767	Laminin IV|Laminin IV|Laminin IV	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	470.63	13	chr20	62326700	.	G	A	470.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.023;DP=163;ExcessHet=0;FS=6.945;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.23;ReadPosRankSum=1.67;SOR=0.108	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1309	6	0	1	0
chr20	62336352	62336352	C	T	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon18:c.G2311A:p.E771K	.	.	.	.	.	.	.	.	.	.	.	3287191	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.083	0.0272223778169	.	.	1.713e-05	0	8.682e-05	0	0	1.558e-05	0	0	1.29e-05	2	154602	rs766638363	1.234e-05	1.3e-05	1.501e-05	9.652e-06	4.498e-05	7.72e-06	6.37e-06	7.46e-06	5.72e-06	0	4.498e-05	0	0	0	0	1.261e-05	3.319e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.11957	T	0.422	0.14034	T	0.004	0.12183	B	0.008	0.13708	B	0.012475	0.29163	N	0.384126	1	0.08975	N	0.955	0.23872	L	-0.02	0.62918	T	-1.98	0.45769	N	0.247	0.27910	-1.0659	0.10339	T	0.117	0.41187	T	10	0.09348893	0.16549	T	0.027222	0.50054	D	0.083	0.24192	0.566	0.68768	0.290620346082	0.28682	0.3523547215768121	0.35149	.	.	0.526282191277	0.42510	T	0.097147	0.39966	T	-0.23253	0.16316	T	-0.488924	0.23504	T	0.0668934270744557	0.08208	T	0.444056	0.12368	T	0.030390564	0.02693	0.0630653	0.12437	0.030390564	0.02692	0.0630653	0.12437	-3.388	0.14896	T	.	.	0.097	0.15788	B	.	.	1.669159	0.21281	15.13	0.81090563779781599	0.13515	0.12677	0.17413	N	AEFGBCI	0.076751	0.15448	N	-0.987331025887178	0.08873	0.4177544	-0.939900236021357	0.11158	0.5667366	0.999921234661598	0.46280	0.67177	0.52595	0	0.491513	0.07743	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.76	1.43	0.21585	0.634000	0.24304	0.009000	0.13411	-0.193000	0.09282	0.033000	0.20612	0.001000	0.17328	0.200000	0.21896	0.269:0.4063:0.1198:0.2048	1.089	0.01556	789	0.46346	Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	962.49	35	chr20	62336352	.	C	T	962.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.066;DP=288;ExcessHet=0;FS=1.625;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=0.173;SOR=0.583	GT:AD:DP:GQ:PL	0/1:55,45:100:99:973,0,1241	6	0	1	0
chr20	62475358	62475358	G	A	exonic	GATA5	.	nonsynonymous SNV	GATA5:NM_080473:exon2:c.C164T:p.P55L	.	.	.	.	.	.	.	.	.	.	.	1457139	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.304	0.981065332207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.499e-06	1.026e-05	3.438e-06	5.666e-06	3.743e-05	1.32e-06	9.6e-07	1e-06	6.8e-07	0	0	0	3.743e-05	0	0	4.274e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.40832	D	0.047	0.48855	D	0.086	0.24919	B	0.039	0.23607	B	0.978434	0.07824	N	1.011940	1	0.08975	N	1.845	0.48678	L	-4.72	0.98051	D	-0.82	0.22508	N	0.168	0.17828	0.394	0.89001	D	0.847	0.94905	D	10	0.44288504	0.58213	T	0.981065	0.99902	D	0.304	0.62510	0.479	0.55823	0.915442423915	0.91459	0.3105265677269252	0.30965	1.7642981659	0.91166	0.810851216316	0.83624	D	0.733907	0.92574	D	0.0240126	0.54921	T	-0.203284	0.54335	T	0.404512944411207	0.29112	T	0.556944	0.19352	T	0.051487606	0.09463	0.12766229	0.30727	0.051487606	0.09462	0.12766229	0.30726	-4.94	0.36182	T	0.41165251511817896	0.50188	0.076	0.05890	B	.	.	2.994311	0.39986	21.1	0.96758430447267818	0.30990	0.65073	0.32616	D	AEFDGBHCI	0.308199	0.41485	N	-0.424836000786836	0.24601	1.329511	-0.389304999198186	0.25314	1.391394	0.999960793346949	0.48965	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.87	2.83	0.32150	1.951000	0.39958	6.541000	0.55884	0.589000	0.31548	0.776000	0.29426	0.999000	0.35428	0.005000	0.06747	0.1073:0.334:0.5587:0.0	8.203	0.30594	839	0.37672	GATA-type transcription activator, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	675.53	34	chr20	62475358	.	G	A	675.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.76;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=-0.623;SOR=0.688	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,104,1222	6	0	1	0
chr20	62754803	62754803	C	T	exonic	NTSR1	.	nonsynonymous SNV	NTSR1:NM_002531:exon2:c.C833T:p.T278M	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.168359319482	.	0.000399361	0.0001	0	0.0003	0	0	0	0	0.0006	0.00011	17	154602	rs201275906	5.211e-05	5.336e-05	4.913e-05	5.511e-05	0.0004	4.168e-05	3.897e-05	0.0003	0.0002	2.987e-05	0.0002	0	0.0004	1.98e-05	0	1.709e-05	9.945e-05	0.0003	4.606e-05	4.596e-05	3.861e-05	5.385e-05	0.0006	2.112e-05	1.528e-05	0.0002	9.04e-05	2.413e-05	0	0	0	0	9.436e-05	0	2.944e-05	0	0.0006	0.171	0.22746	T	0.278	0.21812	T	0.216	0.30161	B	0.065	0.27321	B	0.899858	0.08628	N	0.943538	0.971206	0.25665	N	1.24	0.30952	L	-0.41	0.69413	T	-0.56	0.17003	N	0.165	0.17416	-0.8793	0.49817	T	0.198	0.55329	T	10	0.040504813	0.02626	T	0.168359	0.84648	D	0.096	0.27654	0.388	0.40951	0.616947796064	0.61385	0.4517092649288962	0.45088	0.376432132591	0.39083	0.338868618011	0.16268	T	0.159385	0.50281	T	-0.347591	0.04880	T	-0.409106	0.32328	T	0.0290210471628259	0.01841	T	0.557944	0.19432	T	0.09299536	0.21832	0.111982726	0.27016	0.09299536	0.21831	0.111982726	0.27015	-4.75	0.34003	T	.	.	0.078	0.06896	B	.	.	2.207283	0.28159	17.70	0.93770989286214823	0.23723	0.57500	0.30393	D	AEFDGBCI	0.106840	0.21305	N	-0.499896269127673	0.22083	1.176728	-0.490546406641719	0.22413	1.217229	0.272391134964245	0.18905	0.623552	0.39893	0	0.59043	0.45803	0	0.602189	0.34648	0	0.579976	0.35079	0	.	.	3.79	2.8	0.31881	1.262000	0.32594	0.231000	0.16190	0.516000	0.23499	0.747000	0.29101	0.000000	0.08366	0.109000	0.18697	0.0:0.9075:0.0:0.0925	12.009	0.52567	856	0.34373	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1647.44	33	chr20	62754803	.	C	T	1647.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.594;DP=326;ExcessHet=0;FS=2.07;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=0.599;SOR=0.52	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1228	6	0	1	0
chr20	62813277	62813277	A	0	exonic	OGFR	.	.	.	.	523	886	20	13	80	126	0.0253025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	172.64	11	chr20	62813277	.	A	*	172.64	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.406;DP=90;ExcessHet=0.4139;FS=0;MLEAC=1;MLEAF=0.083;MQ=41.75;MQRankSum=0.657;QD=6.39;ReadPosRankSum=-0.707;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:19,0:19:51:.:.:0,51,765:.	5	0	1	1
chr20	62813313	62813313	G	0	exonic	OGFR	.	.	.	.	901	501	16	13	91	133	0.0402299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	85.47	11	chr20	62813313	.	G	*	85.47	.	AC=1;AF=0.125;AN=8;BaseQRankSum=0.173;DP=74;ExcessHet=0.5115;FS=0;MLEAC=1;MLEAF=0.125;MQ=40.98;MQRankSum=0;QD=3.42;ReadPosRankSum=0.625;SOR=0.602	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:11,0:11:33:.:.:0,33,285:.	3	0	1	3
chr20	62813351	62813351	C	T	exonic	OGFR	.	nonsynonymous SNV	OGFR:NM_007346:exon7:c.C1736T:p.S579L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00239468101348	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206656808	1.419e-06	2.059e-06	1.407e-06	1.43e-06	1.237e-05	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.163e-07	0	1.237e-05	8.08e-06	6.743e-06	0	1.675e-05	1.664e-05	0	0	.	.	0	0	0	0	0	0	0	1.664e-05	0	0	0.068	0.45393	T	0.241	0.26969	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	1.12	0.38718	T	-0.48	0.15379	N	0.064	0.06059	-0.9977	0.30563	T	0.042	0.18076	T	9	0.043762386	0.03260	T	0.002395	0.04673	T	0.021	0.04004	.	.	0.128392430309	0.12331	0.3509422816560484	0.35008	0.327791181624	0.34904	0.34631177783	0.17377	T	0.006654	0.06077	T	-0.312476	0.07532	T	-0.686627	0.06586	T	0.0560175311708966	0.06526	T	0.556144	0.20971	T	0.030358495	0.02685	0.042032376	0.04915	0.030358495	0.02684	0.042032376	0.04914	-10.731	0.78162	D	.	.	0.109	0.53541	B	.;.	.;.	0.238852	0.06193	2.643	0.72004322593657011	0.09823	0.01425	0.04802	N	AEFBCI	0.058993	0.11109	N	-1.96251594034123	0.00254	0.01090279	-2.03356596869223	0.00260	0.01145937	0.999493871796732	0.40007	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	1.6	-3.21	0.04823	-1.129000	0.03356	-11.611000	0.00590	-2.201000	0.00355	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3431:0.5076:0.1494	6.046	0.18988	894	0.26265	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	207.23	8	chr20	62813351	.	C	T	207.23	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.04;DP=70;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=45.39;MQRankSum=0.34;QD=13.82;ReadPosRankSum=1.93;SOR=0.446	GT:AD:DP:GQ:PL	0/0:19,0:19:57:0,57,533	4	0	1	2
chr20	62821797	62821797	T	C	exonic	COL9A3	.	nonsynonymous SNV	COL9A3:NM_001853:exon8:c.T410C:p.L137P	Epiphyseal dysplasia, multiple, 3, with or without myopathy, Autosomal dominant	7	1498	16	1	0	18	0.00597213	.	.	.	257389	not_provided|not_specified|Connective_tissue_disorder	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0003900,MedGen:C0009782	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.294	0.0673241444334	0.0027	0.00339457	0.0046	0.0049	0.0029	0	0	0.0054	0.0015	0.0070	0.0036869	570	154602	rs147947060	0.0040	0.0042	0.0039	0.0040	0.0057	0.0039	0.0038	0.0052	0.0051	0.0030	0.0021	0.0170	0	0.0007	0.0055	0.0039	0.0041	0.0057	0.0039	0.0039	0.0041	0.0037	0.0052	0.0036	0.0035	0.0042	0.0040	0.0036	0	0.0015	0.0210	0.0002	9.414e-05	0.0068	0.0046	0.0028	0.0052	0.128	0.26965	T	0.405	0.23570	T	0.005	0.12996	B	0.007	0.12992	B	0.006952	0.31695	U	0.302681	0.999795	0.49177	D	-1.165	0.00881	N	-3.57	0.94904	D	-0.1	0.08495	N	0.379	0.42050	-0.4097	0.71720	T	0.365	0.72560	T	10	0.009360015	0.00211	T	0.067324	0.70132	D	0.294	0.61388	.	.	0.74863057164	0.74636	0.5024657450337587	0.50168	0.113901460295	0.12851	0.680965423584	0.64407	T	3.69E-4	0.00107	T	-0.223375	0.17535	T	-0.0919972	0.64011	T	0.00856606393201849	0.00104	T	0.683432	0.33655	T	0.1268334	0.29697	0.2035398	0.44434	0.180683	0.39201	0.16422048	0.38053	-1.168	0.01206	T	.	.	0.099	0.43801	B	.;.;.	.;.;.	2.953959	0.39315	20.9	0.95034833747809411	0.26033	0.58758	0.30729	D	AEFDBCI	0.250613	0.37063	N	-0.483242777438565	0.22629	1.210	-0.222696171986814	0.30723	1.732407	0.99908956704427	0.38397	0.695654	0.57023	0	0.578056	0.33634	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.79	4.79	0.60909	1.790000	0.38366	4.042000	0.41433	0.603000	0.45986	0.998000	0.41325	1.000000	0.68203	0.793000	0.37436	0.0:0.1018:0.0:0.8982	7.156	0.24815	900	0.24599	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.007568	0.000000	0.009537	0.005882	0.000000	0.000000	0.000000	0.011364	0.08333	360.27	15	chr20	62821797	.	T	C	360.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.253;DP=174;ExcessHet=0;FS=1.271;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=1.63;SOR=0.465	GT:AD:DP:GQ:PL	0/1:21,16:37:99:370,0,519	5	0	1	1
chr20	62861064	62861072	GCGGCGCGG	-	exonic	TCFL5	.	nonframeshift deletion	TCFL5:NM_001301726:exon1:c.599_607del:p.P200_P202del,TCFL5:NM_006602:exon1:c.599_607del:p.P200_P202del	.	615	902	4	1	0	6	0.00331492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1476188940	0.0001	0.0001	0.0001	0.0002	0.0043	0.0001	0.0001	0.0035	0.0032	0	0	0.0002	0	0	0.0018	4.013e-05	0.0005	0.0043	0.0003	0.0003	0.0001	0.0004	0.0046	0.0002	0.0002	0.0031	0.0026	0	0	0.0006	0	0	0	0	0.0001	0	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	146.79	1	chr20	62861063	.	CGCGGCGCGG	C	146.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0;DP=51;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.35;ReadPosRankSum=1.1;SOR=0.693	GT:AD:DP:GQ:PL	0/0:15,0:15:45:0,45,366	5	0	1	1
chr20	62881068	62881068	C	T	exonic	DIDO1	.	nonsynonymous SNV	DIDO1:NM_001193369:exon16:c.G4888A:p.E1630K,DIDO1:NM_033081:exon16:c.G4888A:p.E1630K	.	418	1084	19	1	0	21	0.00959342	.	.	.	742526	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.033	.	0.0002	0.00439297	0.0033	0.0003	0.0003	0.0286	0	0.0003	0.0015	0.0059	0.0026261	406	154602	rs201746991	0.0012	0.0012	0.0010	0.0013	0.0214	0.0011	0.0011	0.0202	0.0197	0.0001	0.0005	0.0014	0.0214	2.028e-05	0.0019	0.0001	0.0040	0.0048	0.0014	0.0014	0.0013	0.0015	0.0264	0.0012	0.0012	0.0228	0.0215	0.0002	0	0.0012	0.0020	0.0264	0	0	0.0002	0.0024	0.0043	0.345	0.12511	T	0.496	0.11335	T	0.006	0.13644	B	0.001	0.04355	B	0.566787	0.05456	N	1.370700	1	0.08975	N	0.345	0.11182	N	3.15	0.07820	T	-0.69	0.19720	N	0.048	0.01999	-0.9625	0.38704	T	0.005	0.01506	T	10	0.0031928718	0.00054	T	.	.	.	0.033	0.08068	.	.	0.262679179196	0.25893	0.25062993531497235	0.24976	0.413178759555	0.42034	0.393840461969	0.24209	T	0.07762	0.35697	T	-0.742497	0.00020	T	-0.812862	0.01602	T	0.00300392465688742	0.00031	T	0.517348	0.16736	T	0.04582877	0.07568	0.03772025	0.03484	0.04582877	0.07567	0.03772025	0.03484	-3.976	0.23443	T	.	.	0.069	0.03128	B	.;.	.;.	0.279582	0.06563	3.054	0.64074853510350438	0.07394	0.11336	0.16566	N	AEFDGBCI	0.057267	0.10653	N	-1.3356885435977	0.03276	0.1460473	-1.35017390719816	0.03804	0.1781757	0.890231463533723	0.25831	0.700653	0.57754	0	0.708844	0.79440	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	5.06	-2.67	0.05703	-1.057000	0.03596	0.469000	0.18693	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.012000	0.09680	0.0969:0.2824:0.2501:0.3707	2.289	0.03881	814	0.42100	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002018	0.000000	0.001362	0.000000	0.000000	0.000000	0.009202	0.000000	0.07143	563.63	28	chr20	62881068	.	C	T	563.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.87;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=2.14;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,103,1281:.	6	0	1	0
chr20	63328427	63328427	C	T	exonic	COL20A1	.	nonsynonymous SNV	COL20A1:NM_020882:exon34:c.C3710T:p.S1237F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.0798401402516	.	.	2.706e-05	0	0	0	0	1.632e-05	0	0.0001	1.94e-05	3	154602	rs376331855	2.74e-06	2.736e-06	4.088e-06	1.377e-06	2.323e-05	6.4e-07	4.3e-07	3.86e-06	1.44e-06	0	0	0	0	0	0	1.799e-06	0	2.323e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.108	0.29420	T	0.083	0.48336	T	0.099	0.28304	B	0.051	0.28532	B	0.008995	0.01226	U	7.789720	1	0.08975	N	1.79	0.46772	L	-2.2	0.91134	D	-1.84	0.44284	N	0.204	0.27554	-0.5114	0.68236	T	0.448	0.78330	T	10	0.112019	0.20998	T	0.07984	0.73326	D	0.165	0.42395	0.246	0.18139	0.77866168353	0.77662	0.5957165252386017	0.59501	0.0387493771281	0.04121	0.28421330452	0.08086	T	0.01141	0.10182	T	-0.202676	0.20419	T	-0.346759	0.39576	T	0.117324806749821	0.14165	T	0.474053	0.15376	T	0.08379955	0.19368	0.15158643	0.35701	0.08379955	0.19367	0.15158643	0.35701	-4.708	0.34568	T	.	.	0.086	0.17911	B	.;.;.;.	.;.;.;.	0.526753	0.08954	5.736	0.97673718480440608	0.35270	0.01601	0.05194	N	AEFDBI	0.048567	0.08300	N	-1.13565024399029	0.06019	0.2760103	-1.16725786421713	0.06463	0.3112114	6.30313624135973E-4	0.07482	0.422189	0.06491	0	0.547309	0.14657	0	0.600433	0.31921	0	0.613276	0.41899	0	.	.	2.73	-0.843	0.10200	-0.780000	0.04759	0.564000	0.19539	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.2178:0.4852:0.0:0.297	2.915	0.05397	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	547.44	41	chr20	63328427	.	C	T	547.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.527;DP=244;ExcessHet=0;FS=4.649;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-0.39;SOR=0.26	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr20	63561446	63561446	C	T	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_033405:exon8:c.G5150A:p.R1717Q,HELZ2:NM_001037335:exon14:c.G6857A:p.R2286Q	.	425	1087	10	0	0	10	0.00457875	.	.	.	3689219	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.333	0.0711896520816	7.7e-05	.	0.0003	9.899e-05	0.0004	0	0	6.14e-05	0.0012	0.0015	0.0002264	35	154602	rs377628074	0.0002	0.0002	8.186e-05	0.0002	0.0028	0.0001	0.0001	0.0018	0.0017	0	0.0001	0	0	0	0.0028	2.07e-05	0.0003	0.0020	5.253e-05	5.249e-05	3.855e-05	6.714e-05	0.0012	2.556e-05	1.829e-05	0.0005	0.0004	2.405e-05	0	0	0	0	0	0	1.471e-05	0	0.0012	0.082	0.33254	T	0.035	0.52389	D	0.999	0.90584	D	0.966	0.79672	D	0.766281	0.09582	N	0.857968	0.971044	0.38842	D	1.325	0.33218	L	-1.54	0.81640	D	-2.26	0.53258	N	0.464	0.54932	-0.2935	0.75167	T	0.536	0.82854	D	10	0.070828885	0.10358	T	0.07119	0.71204	D	0.333	0.65522	.	.	0.671013503938	0.66823	0.5252025767368174	0.52444	0.773432479962	0.64893	0.533091664314	0.43470	T	0.227268	0.59251	T	-0.291813	0.09455	T	-0.216573	0.53067	T	0.0717606276334605	0.08896	T	0.89721	0.64041	D	0.26178193	0.49237	0.13710324	0.32781	0.26178193	0.49237	0.13710324	0.32780	-4.659	0.32904	T	.	.	0.127	0.28750	B	.;.	.;.	4.682045	0.74937	26.2	0.99938172093669664	0.99698	0.96027	0.67203	D	AEFDGBI	0.270643	0.38666	N	0.334820769620035	0.57943	3.963954	0.305031323910823	0.55835	3.746296	0.917380342497508	0.26540	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.46	4.46	0.53567	1.166000	0.31444	3.915000	0.40434	0.549000	0.26987	0.656000	0.28225	0.999000	0.35428	0.952000	0.50033	0.3141:0.6859:0.0:0.0	11.503	0.49697	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1338.44	36	chr20	63561446	.	C	T	1338.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.84;DP=345;ExcessHet=0;FS=1.415;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-1.363;SOR=0.529	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	6	0	1	0
chr20	63565251	63565251	C	T	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_033405:exon3:c.G1864A:p.V622M,HELZ2:NM_001037335:exon9:c.G3571A:p.V1191M	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0660986575372	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961369377	9.623e-06	1.163e-05	8.201e-06	1.106e-05	2.997e-05	5.58e-06	4.37e-06	3.1e-06	2.24e-06	2.997e-05	2.272e-05	0	0	0	0	7.209e-06	6.659e-05	0	3.284e-05	3.283e-05	3.852e-05	2.689e-05	0.0001	1.26e-05	7.98e-06	4.736e-05	3.051e-05	0.0001	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.002203	0.37012	N	0.229845	0.84487	0.35126	D	1.57	0.39626	L	1.82	0.25018	T	-2.87	0.61865	D	0.504	0.53620	-0.5776	0.65712	T	0.176	0.52006	T	10	0.65328324	0.69727	D	0.066099	0.69776	D	0.232	0.53354	.	.	0.576839456108	0.57353	0.9896783755621646	0.98962	0.719350977625	0.62131	0.874911785126	0.93263	D	0.39022	0.75045	T	-0.0708176	0.41197	T	-0.339501	0.40402	T	0.967630445957184	0.67973	D	0.854814	0.54193	D	0.36001182	0.57836	0.29347426	0.55376	0.36001182	0.57837	0.29347426	0.55375	-11.193	0.82616	D	.	.	0.878	0.84254	P	.;.	.;.	4.307923	0.65834	24.9	0.99850245420788841	0.92925	0.77747	0.38263	D	AEFGBCI	0.145326	0.26851	N	0.448141450203448	0.64096	4.656816	0.344190015943099	0.58157	3.984828	0.930487795619339	0.27010	0.634777	0.41761	0	0.643519	0.57511	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.63	4.63	0.57175	2.890000	0.48308	6.709000	0.56395	0.543000	0.25316	0.956000	0.33378	1.000000	0.68203	0.094000	0.17991	0.0:1.0:0.0:0.0	17.478	0.87558	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	738.63	60	chr20	63565251	.	C	T	738.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.5;DP=445;ExcessHet=0;FS=2.156;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=0.09;SOR=1.022	GT:AD:DP:GQ:PL	0/0:77,0:77:99:0,120,1800	6	0	1	0
chr20	63568584	63568584	C	T	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_001037335:exon6:c.G1504A:p.A502T	.	396	1124	2	0	0	2	0.000888889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	.	0.0059	0.00399361	0.0025	0.0254	0.0012	0.0003	0	3.129e-05	0.0075	0.0005	0.0013519	209	154602	rs61741406	0.0005	0.0005	0.0006	0.0005	0.0187	0.0005	0.0005	0.0175	0.0170	0.0187	0.0005	0	2.559e-05	0	0.0009	1.899e-05	0.0010	0.0007	0.0051	0.0051	0.0055	0.0047	0.0183	0.0048	0.0047	0.0172	0.0168	0.0183	0	0.0008	0	0	0	0	1.47e-05	0.0024	0.0006	0.749	0.03598	T	0.988	0.02376	T	0.059	0.23051	B	0.003	0.08700	B	0.125754	0.02765	N	1.765690	1	0.08975	N	0.22	0.09567	N	-1.14	0.77843	T	0.0	0.07008	N	0.032	0.00825	-0.9210	0.45417	T	0.047	0.20275	T	10	0.0034807622	0.00062	T	.	.	.	0.109	0.30843	.	.	0.107399877778	0.10242	0.06021833754805024	0.05961	0.173054112851	0.19489	0.3523671031	0.18269	T	0.015992	0.13307	T	-0.596167	0.00154	T	-0.614193	0.11647	T	0.000890653836295284	0.00008	T	0.443356	0.12326	T	0.07172481	0.15901	0.044105235	0.05638	0.07172481	0.15901	0.044105235	0.05637	-4.13	0.25730	T	.	.	0.072	0.04277	B	.	.	0.690796	0.10597	7.299	0.67948864028608702	0.08508	0.08650	0.14549	N	AEFDGBCI	0.053227	0.09572	N	-1.57227122255346	0.01409	0.06143055	-1.55818833438924	0.01920	0.08759531	0.999999992493442	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.717052	0.78885	0	0.683762	0.67416	0	.	.	4.52	-4.86	0.02902	-0.927000	0.04092	-1.103000	0.06322	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1877:0.2152:0.096:0.5011	2.071	0.03395	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002520	0.000000	0.005450	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1172.53	33	chr20	63568584	.	C	T	1172.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.612;DP=259;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=-0.364;SOR=0.622	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	6	0	1	0
chr20	63873800	63873800	G	A	exonic	TPD52L2	.	nonsynonymous SNV	TPD52L2:NM_001243891:exon3:c.G223A:p.V75M,TPD52L2:NM_001243892:exon3:c.G229A:p.V77M,TPD52L2:NM_001243894:exon3:c.G298A:p.V100M,TPD52L2:NM_001243895:exon3:c.G298A:p.V100M,TPD52L2:NM_003288:exon3:c.G298A:p.V100M,TPD52L2:NM_199359:exon3:c.G298A:p.V100M,TPD52L2:NM_199360:exon3:c.G298A:p.V100M,TPD52L2:NM_199361:exon3:c.G298A:p.V100M,TPD52L2:NM_199362:exon3:c.G298A:p.V100M,TPD52L2:NM_199363:exon3:c.G298A:p.V100M	.	437	1059	24	2	0	28	0.0130475	.	.	.	717150	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.163	.	0.0007	0.00459265	0.0072	0.0002	0.0024	0.0007	0	0.0016	0.0092	0.0378	0.0034993	541	154602	rs146221163	0.0021	0.0022	0.0014	0.0029	0.0269	0.0021	0.0021	0.0259	0.0255	0.0002	0.0011	0.0007	0.0001	3.837e-05	0.0076	0.0006	0.0021	0.0269	0.0016	0.0016	0.0011	0.0020	0.0280	0.0014	0.0013	0.0242	0.0227	0.0002	0	0.0018	0.0006	0	0	0	0.0009	0.0028	0.0280	0.117	0.29420	T	0.116	0.50514	T	0.538	0.37867	P	0.409	0.44752	B	0.000017	0.62929	N	0.067765	0.999073	0.50595	D	1.745	0.45235	L	1.62	0.28189	T	-2.15	0.55983	N	0.326	0.36674	-1.0613	0.11434	T	0.093	0.35363	T	10	0.005977899	0.00134	T	.	.	.	0.163	0.42028	.	.	0.110392049598	0.10638	0.525710121982997	0.52495	0.192320976914	0.21557	0.372602283955	0.21205	T	0.097271	0.39992	T	-0.466617	0.00893	T	-0.423442	0.30682	T	0.0281337036299695	0.01708	T	0.876112	0.60266	D	0.050308015	0.09069	0.11707527	0.28264	0.050308015	0.09068	0.11707527	0.28263	-4.791	0.58017	T	.	.	0.117	0.39425	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.643460	0.34402	19.62	0.97310466524508998	0.33322	0.77468	0.38093	D	ALL	0.469324	0.51575	N	-0.35025809430402	0.27263	1.494361	-0.417033629949026	0.24497	1.341769	0.999999988724354	0.74766	0.730579	0.87903	0	0.702456	0.74545	0	0.702456	0.68683	0	0.648885	0.59868	0	.	.	5.65	1.56	0.22423	4.167000	0.57999	2.297000	0.31994	-0.202000	0.08738	1.000000	0.71638	0.993000	0.31925	0.816000	0.38450	0.2839:0.0:0.7161:0.0	9.849	0.40212	.	.	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.010101	0.000000	0.006793	0.002941	0.000000	0.025862	0.012346	0.034351	0.07143	603.63	33	chr20	63873800	.	G	A	603.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.506;DP=213;ExcessHet=0;FS=6.901;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=1.17;SOR=0.156	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,101,1177	6	0	1	0
chr21	5137388	5137388	C	G	exonic	LOC102724159;PWP2	.	nonsynonymous SNV	LOC102724159:NM_001368238:exon15:c.G1904C:p.R635P,PWP2:NM_005049:exon15:c.G1904C:p.R635P	.	496	1020	6	0	0	6	0.00293255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1449662252	0.0004	0.0004	0.0003	0.0004	0.0099	0.0004	0.0003	0.0078	0.0070	0.0007	0.0004	8.391e-05	0	1.941e-05	0.0099	0.0003	0.0010	0.0013	0.0005	0.0005	0.0006	0.0004	0.0005	0.0004	0.0004	0.0004	0.0003	9.186e-05	0.0238	7.251e-05	0	0	0	0.0290	0.0005	0	0.0005	.	.	.	0.118	0.36233	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.49783	.	.	.	.	.	.	.	0.019749343	0.00445	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.928707	0.73770	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.42706	B	.	.	1.131865	0.15185	11.65	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.682000	0.37245	-0.674000	0.07920	0.284000	0.18682	1.000000	0.71638	0.000000	0.08366	0.582000	0.30943	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	5049.44	35	chr21	5137388	.	C	G	5049.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.66;DP=666;ExcessHet=0;FS=1.101;MLEAC=1;MLEAF=0.071;MQ=39.24;MQRankSum=-5.983;QD=11.05;ReadPosRankSum=0.468;SOR=0.687	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1301	6	0	1	0
chr21	6460207	6460207	A	T	exonic	CBS;CBSL	.	nonsynonymous SNV	CBS:NM_000071:exon4:c.T296A:p.F99Y,CBS:NM_001178008:exon4:c.T296A:p.F99Y,CBS:NM_001178009:exon4:c.T296A:p.F99Y,CBSL:NM_001321073:exon4:c.T296A:p.F99Y,CBSL:NM_001354008:exon4:c.T296A:p.F99Y,CBSL:NM_001354009:exon4:c.T296A:p.F99Y,CBSL:NM_001354010:exon4:c.T296A:p.F99Y,CBSL:NM_001354012:exon4:c.T296A:p.F99Y,CBSL:NM_001354014:exon4:c.T296A:p.F99Y,CBSL:NM_001354015:exon4:c.T296A:p.F99Y,CBS:NM_001320298:exon5:c.T296A:p.F99Y,CBSL:NM_001354006:exon5:c.T296A:p.F99Y,CBSL:NM_001354007:exon5:c.T296A:p.F99Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1323595521	1.918e-05	3.021e-05	2.136e-05	1.74e-05	0.0008	7.89e-06	5.53e-06	0.0003	0.0002	0.0008	9.297e-05	0	0	0	0	0	0	0	2.731e-05	0.0002	4.99e-05	0	0.0002	0	0	.	.	0.0002	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.029445	0.25452	N	0.451882	1	0.08975	N	.	.	.	-5.52	0.99165	D	0.47	0.03090	N	0.22	0.28146	0.275	0.87155	D	0.728	0.90705	D	10	0.011392862	0.00249	T	0.145456	0.82764	D	0.243	0.54921	.	.	0.303781844768	0.29979	0.6347628337296591	0.63410	.	.	0.522314071655	0.41952	T	0.274257	0.64674	T	-0.282512	0.10403	T	-0.184443	0.56108	T	0.0144167181623514	0.00290	T	0.825517	0.48813	T	0.020461217	0.00606	0.039469555	0.04046	0.020461217	0.00606	0.039469555	0.04046	.	.	.	.	.	0.069	0.03231	B	.;.;.;.;.	.;.;.;.;.	1.442914	0.18626	13.84	0.79814335663967206	0.12913	0.76626	0.37596	D	AEFDBCI	.	.	.	-1.30257201737864	0.03646	0.1632357	-1.24855689625397	0.05152	0.2448237	0.999987313597367	0.51787	0.732398	0.92422	0	0.633656	0.55848	0	0.702456	0.68683	0	0.727631	0.95156	0	.	.	4.81	-3.74	0.04099	0.558000	0.23174	2.550000	0.33259	0.513000	0.23382	0.822000	0.30018	0.633000	0.25876	0.952000	0.50033	0.3069:0.1507:0.1008:0.4416	1.172	0.01715	.	.	Pyridoxal-phosphate dependent enzyme;Pyridoxal-phosphate dependent enzyme;Pyridoxal-phosphate dependent enzyme;Pyridoxal-phosphate dependent enzyme;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	198.66	24	chr21	6460207	.	A	T	198.66	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.03;DP=147;ExcessHet=0;FS=5.704;MLEAC=1;MLEAF=0.071;MQ=40.71;MQRankSum=-1.35;QD=7.95;ReadPosRankSum=-0.875;SOR=2.428	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1327	6	0	1	0
chr21	10567789	10567789	G	A	exonic	TPTE	.	nonsynonymous SNV	TPTE:NM_001290224:exon6:c.G152A:p.R51K,TPTE:NM_199260:exon9:c.G452A:p.R151K,TPTE:NM_199259:exon10:c.G512A:p.R171K,TPTE:NM_199261:exon11:c.G566A:p.R189K	.	488	1030	4	0	0	4	0.00193798	0.9999	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.813	0.00323682469392	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs138088406	0.0010	0.0035	0.0010	0.0010	0.0012	0.0010	0.0010	0.0011	0.0011	0.0003	0.0001	0.0005	0	9.361e-05	0.0002	0.0012	0.0010	0.0008	0.0014	0.0024	0.0014	0.0013	0.0025	0.0012	0.0012	0.0022	0.0021	0.0003	0	0.0012	0	0	0	0	0.0025	0.0014	0.0014	.	.	.	0.185	0.28958	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396	0.44090	.	.	.	.	.	.	.	0.19259626	0.34994	T	.	.	.	.	.	.	.	.	.	0.9389900620778954	0.93880	.	.	.	.	.	0.086929	0.37832	T	.	.	.	.	.	.	.	.	.	0.542346	0.18433	T	.	.	.	.	.	.	.	.	-4.404	0.30993	T	.	.	0.121	0.27433	B	.;.;.;.	.;.;.;.	3.936949	0.57579	23.9	.	.	.	.	.	.	0.329697	0.42996	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.037000	0.49465	1.261000	0.25231	0.325000	0.19437	1.000000	0.71638	1.000000	0.68203	0.508000	0.29198	.	.	.	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	211.44	40	chr21	10567789	.	G	A	211.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.129;DP=422;ExcessHet=0;FS=0.717;MLEAC=1;MLEAF=0.071;MQ=59.9;MQRankSum=0.585;QD=0.97;ReadPosRankSum=-2.052;SOR=0.769	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr21	10578378	10578378	G	A	exonic	TPTE	.	nonsynonymous SNV	TPTE:NM_001290224:exon11:c.G484A:p.V162I,TPTE:NM_199260:exon14:c.G784A:p.V262I,TPTE:NM_199259:exon15:c.G844A:p.V282I,TPTE:NM_199261:exon16:c.G898A:p.V300I	.	533	985	4	0	0	4	0.00202634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.000918950453253	.	.	1.65e-05	0	0	0.0002	0	0	0	0	3.84e-05	1	26028	rs139963428	0.0031	0.0081	0.0032	0.0031	0.0037	0.0031	0.0030	0.0036	0.0035	0.0004	0.0010	0.0027	0.0007	0.0029	0.0010	0.0037	0.0028	0.0003	0.0035	0.0066	0.0037	0.0033	0.0052	0.0033	0.0032	0.0048	0.0046	0.0009	0.0077	0.0050	0.0038	0.0006	0.0034	0	0.0052	0.0028	0	.	.	.	0.24	0.24406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.32921	.	.	.	.	.	.	.	0.037695557	0.02140	T	.	.	.	.	.	.	.	.	.	0.8265620422422075	0.82614	.	.	.	.	.	0.133165	0.46368	T	.	.	.	.	.	.	.	.	.	0.567543	0.23442	T	.	.	.	.	.	.	.	.	-4.136	0.25819	T	.	.	0.092	0.13690	B	.;.;.;.	.;.;.;.	0.967870	0.13449	9.956	.	.	.	.	.	.	0.028242	0.02451	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.618000	0.36565	-1.560000	0.05170	-1.524000	0.01001	0.369000	0.25916	0.000000	0.08366	0.020000	0.11549	.	.	.	.	.	.;Dual specificity phosphatase, catalytic domain|Tensin-type phosphatase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	244.44	34	chr21	10578378	.	G	A	244.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.18;DP=275;ExcessHet=0;FS=1.026;MLEAC=1;MLEAF=0.071;MQ=55.6;MQRankSum=-7.87;QD=2.63;ReadPosRankSum=-0.141;SOR=0.475	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1208	6	0	1	0
chr21	13610400	13610400	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A172G:p.R58G	.	422	954	132	14	0	160	0.0773694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00147797239572	.	.	.	.	.	.	.	.	.	.	0.0066851	174	26028	rs200814491	2.492e-05	8.633e-05	1.821e-05	3.157e-05	3.472e-05	1.631e-05	1.393e-05	1.38e-05	1.117e-05	0	0	0	0	5.248e-05	0	2.332e-05	5.701e-05	3.472e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.462	0.36386	P	0.152	0.34249	B	.	.	.	.	1	0.08975	N	2.175	0.60977	M	1.03	0.40469	T	-1.15	0.29525	N	0.041	0.03841	-1.0119	0.26322	T	0.093	0.35390	T	7	0.071079314	0.10429	T	0.001478	0.02267	T	0.070	0.20419	0.258	0.20002	0.043077524339	0.03247	0.05236624517845099	0.05178	.	.	0.467012226582	0.34271	T	0.021951	0.17006	T	-0.340339	0.05364	T	-0.423521	0.30672	T	0.131828456292153	0.15550	T	0.684632	0.29972	T	0.15094694	0.34338	0.18774164	0.42023	0.15094694	0.34338	0.18774164	0.42022	-8.467	0.64211	D	.	.	0.120	0.28578	B	.;.	.;.	1.858254	0.23606	16.08	0.93571275912320728	0.23413	0.00040	0.00335	N	AEFI	0.026967	0.02121	N	-0.883970604830688	0.11224	0.5404707	-1.10778252144765	0.07550	0.3677109	1.09839826763181E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.019000	0.13337	.	.	0.134000	0.17662	0.261000	0.24959	0.000000	0.08366	0.014000	0.10232	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	7219.72	39	chr21	13610400	.	A	G	7219.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.716;DP=844;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=57.86;MQRankSum=0.599;QD=10.3;ReadPosRankSum=-0.546;SOR=0.687	GT:AD:DP:GQ:PL	0/1:160,155:315:99:3392,0,3960	4	0	3	0
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.6429	21872.1	176	chr21	13610565	.	G	A	21872.1	.	AC=9;AF=0.643;AN=14;BaseQRankSum=2.87;DP=1134;ExcessHet=0.4813;FS=0;MLEAC=9;MLEAF=0.643;MQ=53.69;MQRankSum=-9.205;QD=20.58;ReadPosRankSum=0.352;SOR=0.683	GT:AD:DP:GQ:PL	0/1:151,136:289:99:3361,0,3536	1	3	3	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012405	0.000000	0.013369	0.016129	0.000000	0.046512	0.000000	0.010417	0.6429	15864.1	124	chr21	13610631	.	A	G	15864.1	.	AC=9;AF=0.643;AN=14;BaseQRankSum=-1.282;DP=916;ExcessHet=0.4813;FS=6.707;MLEAC=9;MLEAF=0.643;MQ=47.47;MQRankSum=-13.36;QD=18.64;ReadPosRankSum=0.419;SOR=1.139	GT:AD:DP:GQ:PL	0/1:153,101:254:99:2228,0,3964	1	3	3	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5714	10274.3	66	chr21	13641414	.	A	G	10274.3	.	AC=8;AF=0.571;AN=14;BaseQRankSum=-0.137;DP=637;ExcessHet=0.0509;FS=0.569;MLEAC=8;MLEAF=0.571;MQ=58.12;MQRankSum=-2.171;QD=17.56;ReadPosRankSum=-1.248;SOR=0.616	GT:AD:DP:GQ:PL	0/1:108,77:185:99:1649,0,2617	2	3	2	0
chr21	26966182	26966182	G	T	exonic	ADAMTS5	.	nonsynonymous SNV	ADAMTS5:NM_007038:exon1:c.C210A:p.S70R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0140435625359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.21968	T	0.32	0.19131	T	0.0	0.02946	B	0.002	0.06944	B	0.011214	0.29618	N	0.312565	1	0.08975	N	0.805	0.20218	L	3.4	0.05642	T	-0.66	0.19085	N	0.208	0.23125	-0.9093	0.46940	T	0.007	0.02321	T	10	0.079529345	0.12803	T	0.014044	0.33885	T	0.021	0.04004	0.445	0.50302	0.209622950755	0.20551	0.4463678524785094	0.44554	0.501383328697	0.48521	0.624176323414	0.56318	T	0.049497	0.28324	T	-0.287906	0.09846	T	-0.651334	0.08861	T	0.0875085610351895	0.10919	T	0.523848	0.17156	T	0.086962596	0.20232	0.08599346	0.19892	0.086962596	0.20232	0.08599346	0.19891	-2.308	0.04599	T	.	.	0.133	0.28778	B	.	.	2.152383	0.27418	17.45	0.9636678823156587	0.29570	0.18232	0.20175	N	AEFDBHCI	0.120043	0.23402	N	-0.940909680153926	0.09898	0.4705493	-0.800100148356099	0.14493	0.7575246	0.99999999296471	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.85	1.52	0.22158	0.315000	0.19200	4.670000	0.44274	0.676000	0.76740	0.014000	0.18986	1.000000	0.68203	0.892000	0.42986	0.2671:0.0:0.7329:0.0	10.617	0.44646	740	0.53092	Peptidase M12B, propeptide	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1057.45	36	chr21	26966182	.	G	T	1057.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.436;DP=315;ExcessHet=0;FS=2.461;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=0.639;SOR=0.48	GT:AD:DP:GQ:PL	0/1:70,50:120:99:1068,0,1827	6	0	1	0
chr21	29326553	29326553	A	T	exonic	BACH1	.	nonsynonymous SNV	BACH1:NM_001186:exon3:c.A729T:p.E243D,BACH1:NM_206866:exon3:c.A729T:p.E243D	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	0.0074	0.00758786	0.0022	0.0252	0.0009	0	0	1.509e-05	0.0011	6.064e-05	0.0020892	323	154602	rs34811108	0.0008	0.0008	0.0008	0.0007	0.0271	0.0007	0.0007	0.0257	0.0251	0.0271	0.0012	0	0	0	0.0007	9.892e-06	0.0022	9.275e-05	0.0067	0.0067	0.0069	0.0065	0.0235	0.0064	0.0062	0.0222	0.0217	0.0235	0	0.0025	0	0	0	0	0	0.0033	0	0.063	0.36709	T	0.648	0.06788	T	0.004	0.12183	B	0.005	0.11217	B	0.004941	0.33255	N	0.302657	0.999998	0.08975	N	1.945	0.52268	M	-0.64	0.72125	T	-1.06	0.27669	N	0.136	0.13341	-1.0834	0.06702	T	0.034	0.14464	T	10	0.003194362	0.00054	T	.	.	.	0.049	0.13647	0.249	0.18602	0.437314048365	0.43349	0.10643558173104822	0.10573	0.0840471645538	0.09481	0.342504680157	0.16813	T	0.151944	0.49212	T	-0.573907	0.00210	T	-0.577557	0.14764	T	0.00260567807047582	0.00027	T	0.626337	0.24237	T	0.0414663	0.06112	0.050882895	0.08078	0.0414663	0.06112	0.050882895	0.08077	-3.469	0.16000	T	.	.	0.071	0.05145	B	.;.	.;.	0.225972	0.06078	2.521	0.96638133294696749	0.30542	0.16647	0.19485	N	AEFBCI	0.077830	0.15690	N	-1.24872823563524	0.04317	0.1945767	-1.22825178002791	0.05460	0.2602406	0.999829478949463	0.43622	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.08	-2.97	0.05195	0.182000	0.16710	0.066000	0.14196	-0.653000	0.04380	0.001000	0.13787	0.000000	0.08366	0.259000	0.23493	0.1973:0.233:0.4707:0.099	5.483	0.16026	969	0.06854	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	433.45	33	chr21	29326553	.	A	T	433.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.413;DP=220;ExcessHet=0;FS=6.803;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=2.25;SOR=1.403	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1142	6	0	1	0
chr21	30337361	30337361	T	A	exonic	KRTAP27-1	.	nonsynonymous SNV	KRTAP27-1:NM_001077711:exon1:c.A308T:p.E103V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00656093475867	0.0005	0.00139776	0.0004	0	0.0009	0	0	0.0006	0.0011	0	0.0004528	70	154602	rs139988725	0.0010	0.0010	0.0010	0.0010	0.0012	0.0009	0.0009	0.0012	0.0012	0.0001	0.0009	0	0	0	0	0.0012	0.0006	1.159e-05	0.0007	0.0007	0.0009	0.0006	0.0023	0.0006	0.0006	0.0017	0.0015	0.0002	0	0.0023	0	0	0	0	0.0009	0.0024	0	0.158	0.23905	T	0.335	0.18286	T	0.802	0.45105	P	0.432	0.45448	B	0.300700	0.03953	N	1.586570	1	0.08975	N	1.39	0.34934	L	3.95	0.03382	T	-0.58	0.17417	N	0.199	0.21969	-0.9354	0.43333	T	0.009	0.03011	T	10	0.0055468082	0.00123	T	0.006561	0.17301	T	0.018	0.03083	.	.	0.137902524267	0.13322	0.1011675000391786	0.10047	0.0641064311591	0.07144	0.220100522041	0.01316	T	7.51E-4	0.00354	T	-0.589534	0.00169	T	-0.693715	0.06176	T	0.0293162453344729	0.01885	T	0.349665	0.07767	T	0.065674804	0.14060	0.04963609	0.07625	0.065674804	0.14060	0.04963609	0.07624	-3.335	0.14193	T	.	.	0.135	0.29283	B	.	.	2.407263	0.30938	18.59	0.977313557923288	0.35622	0.01609	0.05211	N	AEFBI	0.028458	0.02510	N	-0.746872539681153	0.14719	0.7355651	-0.908737465994183	0.11888	0.6083715	0.928231925456003	0.26921	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.44	-1.22	0.09005	-0.504000	0.06456	-0.041000	0.12668	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.3339:0.0:0.6661	8.098	0.29999	214	0.91692	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	2674.34	34	chr21	30337361	.	T	A	2674.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.584;DP=324;ExcessHet=0.3476;FS=1.836;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=1.07;SOR=0.563	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1039:.	5	0	2	0
chr21	30337413	30337413	G	A	exonic	KRTAP27-1	.	stopgain	KRTAP27-1:NM_001077711:exon1:c.C256T:p.Q86X	.	430	1072	20	0	0	20	0.00924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.000998403	0.0015	0.0003	0.0029	0	0.0002	0.0019	0.0022	0.0013	0.0015718	243	154602	rs144648271	0.0017	0.0017	0.0017	0.0017	0.0076	0.0016	0.0016	0.0058	0.0052	0.0002	0.0022	0.0003	0	0.0004	0.0076	0.0018	0.0016	0.0017	0.0017	0.0017	0.0017	0.0018	0.0058	0.0015	0.0015	0.0048	0.0044	0.0003	0.0121	0.0058	0	0	0.0002	0	0.0020	0.0028	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	0.631278	0.10685	N	0.752745	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.22	0.24634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0220029	0.48567	T	0.189142	0.82521	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	7.754343	0.96829	36	0.99618946326035362	0.75293	0.21730	0.21504	N	AEFBIJ	0.026725	0.02056	N	0.433101555693606	0.63252	4.555354	0.103250409020266	0.44715	2.747879	0.989846802264893	0.31953	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.12	3.22	0.36041	2.460000	0.44689	5.243000	0.48069	0.618000	0.50648	0.386000	0.26055	0.999000	0.35428	0.142000	0.20019	0.0:0.0:0.7842:0.2158	9.238	0.36640	214	0.91692	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.002717	0.005848	0.000000	0.000000	0.012195	0.000000	0.07143	326.63	37	chr21	30337413	.	G	A	326.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.67;DP=258;ExcessHet=0;FS=1.149;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.63;ReadPosRankSum=0.862;SOR=0.941	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	6	0	1	0
chr21	30590372	30590372	C	T	exonic	KRTAP22-2	.	startloss	KRTAP22-2:NM_001164434:exon1:c.G3A:p.M1?	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.0764358423072	.	.	0.0005	0	0	0	0	0	0	0.0013	6.47e-05	10	154602	rs750634932	6.149e-05	5.883e-05	1.552e-05	0.0001	0.0011	5.096e-05	4.699e-05	0.0009	0.0008	0	0	0	0	0	0	0	0	0.0011	2.627e-05	2.625e-05	0	5.374e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.046666	0.23417	U	0.213997	1	0.81001	D	.	.	.	.	.	.	-4.0	0.74051	D	0.749	0.74826	-0.3149	0.74566	T	0.344	0.70916	T	6	0.7945148	0.78950	D	0.076436	0.72529	D	0.334	0.65620	0.772	0.89846	0.0806252709748	0.07271	0.060358237487162986	0.05975	.	.	.	.	.	0.068075	0.33364	T	-0.0811982	0.39519	T	0.0313269	0.72365	D	0.269904881715775	0.23743	T	.	.	.	0.8538697	0.87623	0.7325582	0.84196	0.8538697	0.87624	0.7325582	0.84197	-9.793	0.72662	D	.	.	.	.	.	.	.	2.146320	0.27331	17.43	0.87537383395552748	0.17298	0.79425	0.39354	D	AEFI	0.015570	0.00304	N	0.0495290170763756	0.44120	2.691954	0.015777702250163	0.40447	2.41397	0.00483644514062418	0.10731	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.16	4.16	0.48138	1.735000	0.37800	0.842000	0.22053	0.580000	0.29708	0.420000	0.26330	0.306000	0.24247	0.026000	0.12556	0.0:1.0:0.0:0.0	12.182	0.53524	518	0.74548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	570.49	24	chr21	30590372	.	C	T	570.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.895;DP=200;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.924;SOR=0.609	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1290	6	0	1	0
chr21	30592527	30592619	GGAGGCCTGGGCTGTGGTTATGGCGGCTGTGGCTATGGGTGCTGTGGCTACGGAGGCCTGGGCTTTGGCTATGGAGGCCTGGACTGTGGCTAT	-	exonic	KRTAP6-3	.	nonframeshift deletion	KRTAP6-3:NM_181605:exon1:c.82_174del:p.G36_G66del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	43.4	34	chr21	30592526	.	CGGAGGCCTGGGCTGTGGTTATGGCGGCTGTGGCTATGGGTGCTGTGGCTACGGAGGCCTGGGCTTTGGCTATGGAGGCCTGGACTGTGGCTAT	C	43.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.23;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	0	1	0
chr21	30592597	30592597	A	0	exonic	KRTAP6-3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	14950.4	94	chr21	30592597	.	A	*	14950.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.08;DP=625;ExcessHet=0.0921;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=25.69;ReadPosRankSum=0.788;SOR=0.635	GT:AD:DP:GQ:PL	0/0:0,0:154:99:4616,4616,4616	6	0	1	0
chr21	32333334	32333334	C	A	exonic	URB1	.	nonsynonymous SNV	URB1:NM_014825:exon30:c.G4943T:p.S1648I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0123745393505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.33923	T	0.002	0.79402	D	0.623	0.39993	P	0.253	0.39112	B	0.000000	0.84330	D	0.038169	0.999871	0.50225	D	2.72	0.79541	M	1.27	0.36146	T	-2.57	0.55501	D	0.541	0.56833	-1.0813	0.07099	T	0.079	0.31496	T	10	0.36790454	0.53247	T	0.012375	0.30882	T	0.150	0.39571	0.655	0.79276	0.238705975628	0.23479	0.6501925755230383	0.64955	.	.	0.620228052139	0.55761	T	0.027138	0.19936	T	-0.0486508	0.44651	T	-0.30766	0.43910	T	0.936524868011475	0.60559	D	0.844815	0.52285	T	0.2933291	0.52300	0.24154727	0.49555	0.2933291	0.52300	0.24154727	0.49554	-9.83	0.72888	D	.	.	0.247	0.48177	B	.	.	3.238183	0.44194	21.9	0.99116663859581211	0.52880	0.98016	0.78896	D	AEFBI	0.360419	0.45039	N	0.0902039996474504	0.46007	2.847835	0.161464671175337	0.47753	3.00079	0.999999986372385	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	4.5	0.54382	3.884000	0.55888	3.239000	0.36954	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.603000	0.31463	0.1519:0.8481:0.0:0.0	13.968	0.63730	914	0.21048	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chr21	32333334	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=190;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1081	6	1	0	0
chr21	32350817	32350817	G	C	exonic	URB1	.	nonsynonymous SNV	URB1:NM_014825:exon20:c.C2719G:p.H907D	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00191929921136	0.0031	0.00119808	0.0019	0.0005	0	0	0	0.0034	0	0.0010	0.0007115	110	154602	rs191108186	0.0030	0.0029	0.0031	0.0029	0.0036	0.0029	0.0029	0.0035	0.0035	0.0005	0.0011	7.942e-05	0	0.0006	0.0004	0.0036	0.0027	0.0008	0.0020	0.0020	0.0022	0.0017	0.0035	0.0018	0.0017	0.0031	0.0030	0.0009	0	0.0012	0	0	0.0004	0	0.0035	0.0014	0	0.719	0.03937	T	0.724	0.05274	T	0.0	0.02946	B	0.0	0.01387	B	0.002233	0.00870	N	2.670010	1	0.08975	N	1.01	0.25309	L	1.64	0.27822	T	-0.13	0.08971	N	0.126	0.11912	-1.0260	0.21756	T	0.040	0.17319	T	10	0.0036210418	0.00066	T	0.001919	0.03404	T	0.008	0.00669	.	.	0.0551355673512	0.04727	0.254150706841034	0.25329	.	.	0.271051883698	0.06279	T	0.003907	0.03313	T	-0.649449	0.00073	T	-0.705124	0.05550	T	0.000307226553559303	0.00002	T	0.172483	0.01642	T	0.023725787	0.01137	0.034531903	0.02536	0.023725787	0.01136	0.034531903	0.02535	-1.358	0.01497	T	.	.	0.074	0.05017	B	.	.	-0.488148	0.01906	0.159	0.44106484067045543	0.03367	0.07773	0.13771	N	AEFDGBCI	0.034050	0.04151	N	-1.45685389377553	0.02163	0.09522547	-1.49526405367296	0.02383	0.1094932	0.999998779020475	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.34	-4.54	0.03207	-0.586000	0.05880	-1.458000	0.05393	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0776:0.5795:0.1328:0.2101	7.425	0.26264	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000958	0.000000	0.000000	0.000000	0.000000	0.000000	0.004630	0.000000	0.07143	585.53	53	chr21	32350817	.	G	C	585.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.8;DP=238;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=0.187;SOR=0.776	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chr21	32467842	32467842	C	G	exonic	EVA1C	.	nonsynonymous SNV	EVA1C:NM_001320744:exon2:c.C307G:p.P103A,EVA1C:NM_001286556:exon4:c.C628G:p.P210A,EVA1C:NM_001320745:exon4:c.C343G:p.P115A,EVA1C:NM_058187:exon4:c.C628G:p.P210A	.	436	1084	2	0	0	2	0.000921659	.	.	.	2377429	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.107	0.0146199955819	.	0.000199681	0.0004	9.829e-05	0.0010	0	0.0002	0.0002	0	0.0010	0.0002781	43	154602	rs200288953	0.0002	0.0002	0.0001	0.0002	0.0019	0.0002	0.0001	0.0012	0.0012	9.068e-05	0.0008	0	0.0001	3.75e-05	0.0019	6.218e-05	0.0001	0.0015	7.24e-05	7.88e-05	9.014e-05	5.385e-05	0.0004	3.978e-05	3.132e-05	0.0002	0.0001	4.833e-05	0	0.0004	0	0.0002	0	0	0	0	0.0004	0.109	0.35537	T	0.062	0.48855	T	0.96	0.55278	D	0.622	0.51475	P	0.000047	0.53742	D	0.134502	0.995719	0.42821	D	1.715	0.44382	L	2.38	0.15843	T	-2.42	0.53096	N	0.394	0.43514	-1.1290	0.01830	T	0.063	0.26244	T	10	0.038518548	0.02275	T	0.01462	0.34856	T	0.107	0.30369	.	.	0.359357374593	0.35551	0.5502219574021693	0.54948	0.725263596407	0.62439	0.29816454649	0.10128	T	0.009285	0.18521	T	-0.466543	0.00894	T	-0.483467	0.24079	T	0.0726545004273332	0.09018	T	0.823318	0.48387	T	0.07220167	0.16044	0.1151874	0.27804	0.07220167	0.16043	0.1151874	0.27804	-4.776	0.34310	T	.	.	0.069	0.06896	B	.;.;.;.	.;.;.;.	3.384785	0.46838	22.4	0.88907341405279028	0.18352	0.97889	0.77893	D	AEFBI	0.428470	0.49198	N	0.243031310665371	0.53294	3.49903	0.271856052349206	0.53903	3.557092	0.999999999969691	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.696353	0.63694	0	0.727631	0.95156	0	.	.	5.61	5.61	0.85347	5.343000	0.65746	5.669000	0.49248	0.596000	0.33519	0.961000	0.33663	0.786000	0.26821	0.038000	0.14061	0.0:1.0:0.0:0.0	19.702	0.96055	884	0.28482	D-galactoside/L-rhamnose binding SUEL lectin domain|D-galactoside/L-rhamnose binding SUEL lectin domain;.;.;D-galactoside/L-rhamnose binding SUEL lectin domain|D-galactoside/L-rhamnose binding SUEL lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	160.63	33	chr21	32467842	.	C	G	160.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.71;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.18;ReadPosRankSum=0.116;SOR=0.693	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,108,1620	6	0	1	0
chr21	32687043	32687043	T	G	exonic	SYNJ1	.	nonsynonymous SNV	SYNJ1:NM_001160302:exon8:c.A883C:p.K295Q,SYNJ1:NM_001160306:exon8:c.A883C:p.K295Q,SYNJ1:NM_003895:exon8:c.A1000C:p.K334Q,SYNJ1:NM_203446:exon8:c.A883C:p.K295Q	Epileptic encephalopathy, early infantile, 53;Parkinson disease 20, early-onset, Autosomal recessive	491	1029	2	0	0	2	0.000970874	.	.	.	694623	Developmental_and_epileptic_encephalopathy,_53|Early-onset_Parkinson_disease_20	MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530,Orphanet:391411	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.190	0.0482733870669	.	0.000399361	0.0005	9.815e-05	8.732e-05	0	0	3.048e-05	0	0.0034	0.000401	62	154602	rs554456240	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0002	0.0033	0.0032	0	0	0	0	0	0.0021	1.298e-05	0.0002	0.0037	0.0002	0.0002	6.424e-05	0.0003	0.0050	0.0001	9.232e-05	0.0034	0.0029	0	0	0	0	0	0	0	0	0	0.0050	0.264	0.23095	T	0.329	0.22154	T	0.998	0.73220	D	0.898	0.63708	P	0.000005	0.62929	D	0.143592	1	0.81001	D	1.42	0.35681	L	0.29	0.58897	T	-1.33	0.33197	N	0.522	0.55193	-0.6100	0.64403	T	0.299	0.67036	T	10	0.01659891	0.00350	T	0.048273	0.63300	D	0.190	0.46781	0.535	0.64439	0.52628473709	0.52276	0.41492219103878575	0.41408	1.32676758397	0.83573	0.587899684906	0.51197	T	0.316225	0.68810	T	-0.309601	0.07783	T	-0.220548	0.52685	T	0.0997248388611909	0.12327	T	0.953805	0.82846	D	.	.	.	.	.	.	.	.	-6.651	0.51440	T	.	.	0.105	0.33527	B	.;.;.;.;.;.	.;.;.;.;.;.	3.741629	0.53582	23.4	0.9789481118000064	0.36697	0.98547	0.83953	D	AEFBI	0.889263	0.82317	D	0.300611274414046	0.56181	3.782407	0.435128405573143	0.63768	4.617245	0.999999999308644	0.74766	0.651	0.46895	0	0.601575	0.49859	0	0.618467	0.43123	0	0.683762	0.67416	0	.	.	5.85	5.85	0.93663	7.679000	0.83364	7.875000	0.72177	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.239	0.82222	921	0.19240	.;SAC domain|SAC domain;SAC domain|SAC domain;SAC domain|SAC domain;SAC domain|SAC domain;SAC domain|SAC domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002020	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.003788	0.07143	691.44	30	chr21	32687043	.	T	G	691.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.638;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=1.37;SOR=0.588	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1100	6	0	1	0
chr21	33252732	33252732	C	G	exonic	IFNAR2	.	nonsynonymous SNV	IFNAR2:NM_000874:exon7:c.C611G:p.T204R,IFNAR2:NM_001289125:exon7:c.C611G:p.T204R,IFNAR2:NM_001289126:exon7:c.C611G:p.T204R,IFNAR2:NM_001289128:exon7:c.C611G:p.T204R,IFNAR2:NM_001385054:exon7:c.C611G:p.T204R,IFNAR2:NM_001385055:exon7:c.C611G:p.T204R,IFNAR2:NM_207584:exon7:c.C611G:p.T204R,IFNAR2:NM_207585:exon7:c.C611G:p.T204R	.	2	1414	97	9	0	115	0.0390758	.	.	.	705659	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.101	.	0.0028	0.00479233	0.0051	0.0009	0.0036	0	0.0003	0.0050	0.0110	0.0136	0.0046701	722	154602	rs147496374	0.0035	0.0035	0.0030	0.0040	0.0392	0.0034	0.0034	0.0350	0.0334	0.0010	0.0036	0.0165	0	0.0002	0.0392	0.0025	0.0057	0.0130	0.0039	0.0039	0.0037	0.0041	0.0149	0.0036	0.0035	0.0121	0.0111	0.0005	0.0482	0.0054	0.0190	0	0.0002	0.0753	0.0039	0.0085	0.0149	0.161	0.78490	T	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.425033	0.12822	N	0.738962	0.97282	0.38976	D	2.08	0.57402	M	1.31	0.35405	T	-3.11	0.73267	D	0.477	0.53884	-0.9382	0.42900	T	0.135	0.44875	T	10	0.010730058	0.00238	T	.	.	.	0.300	0.62068	.	.	0.764019764511	0.76186	0.7268006199058705	0.72624	0.299378326129	0.32306	0.459942519665	0.33302	T	0.265189	0.63704	T	-0.383608	0.02956	T	-0.312772	0.43360	T	0.0354205092465154	0.02880	T	0.816118	0.47523	T	0.28101838	0.51146	0.3051472	0.56542	0.29832277	0.52754	0.2683962	0.52706	-5.982	0.54933	T	.	.	0.147	0.43200	B	.;.;.;.;.;.	.;.;.;.;.;.	3.085038	0.41513	21.4	0.99482664130514209	0.66959	0.67555	0.33475	D	AEFBI	0.133793	0.25357	N	0.350668498744144	0.58776	4.051906	0.277183829879017	0.54211	3.586691	0.962429835307799	0.28622	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.13	3.23	0.36150	0.371000	0.20182	2.599000	0.33511	0.599000	0.40250	0.990000	0.36992	0.991000	0.31484	0.983000	0.59808	0.0:0.7603:0.2397:0.0	9.699	0.39341	917	0.20147	.;.;Interferon/interleukin receptor domain;.;Interferon/interleukin receptor domain;Interferon/interleukin receptor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.040282	0.015152	0.033967	0.061404	0.100000	0.094828	0.033537	0.037879	0.1429	884.24	33	chr21	33252732	.	C	G	884.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.577;DP=290;ExcessHet=0.3476;FS=2.315;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=6.85;ReadPosRankSum=0.79;SOR=0.679	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	5	0	2	0
chr21	36232966	36232966	A	G	exonic	DOP1B	.	nonsynonymous SNV	DOP1B:NM_001320714:exon15:c.A2513G:p.Y838C,DOP1B:NM_005128:exon15:c.A2513G:p.Y838C	.	434	1083	5	0	0	5	0.00230309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	.	0.0048	0.00279553	0.0060	0.0009	0.0016	0	0.0224	0.0068	0.0088	0.0056	0.0057502	889	154602	rs142303619	0.0069	0.0069	0.0068	0.0070	0.0071	0.0068	0.0067	0.0070	0.0069	0.0009	0.0016	0.0020	0.0002	0.0204	0.0033	0.0071	0.0057	0.0060	0.0055	0.0055	0.0052	0.0058	0.0068	0.0052	0.0051	0.0063	0.0061	0.0012	0	0.0015	0.0029	0.0002	0.0238	0.0034	0.0068	0.0043	0.0056	0.146	0.25055	T	0.149	0.32568	T	0.998	0.73220	D	0.8	0.58175	P	0.009052	0.30540	N	0.380726	0.999998	0.08975	N	2.095	0.58118	M	-0.34	0.68474	T	-3.73	0.70920	D	0.408	0.44857	-0.7939	0.55502	T	0.248	0.61704	T	10	0.009080589	0.00205	T	.	.	.	0.221	0.51721	.	.	0.669206346033	0.66641	0.273427910411048	0.27255	0.233840886749	0.25922	0.475781321526	0.35477	T	0.082101	0.36751	T	-0.319322	0.06954	T	-0.225204	0.52235	T	0.0400255426204343	0.03695	T	0.915108	0.69728	D	0.1423712	0.32767	0.17213026	0.39445	0.1423712	0.32767	0.17213026	0.39444	-4.267	0.27712	T	.	.	0.092	0.13503	B	.	.	3.201824	0.43545	21.8	0.99663967705234013	0.78138	0.76600	0.37581	D	AEFGBI	0.129320	0.24745	N	0.341811299700431	0.58308	4.002344	0.299503923595694	0.55510	3.714028	0.793447337621975	0.24055	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.98	3.26	0.36471	2.632000	0.46177	2.747000	0.34506	0.756000	0.94297	0.985000	0.35982	0.408000	0.24745	0.860000	0.40782	0.7359:0.1316:0.1326:0.0	7.175	0.24917	934	0.15400	.	.	.	.	.	rs142303619	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003033	0.000000	0.001362	0.000000	0.000000	0.000000	0.006211	0.011364	0.07143	1750.44	45	chr21	36232966	.	A	G	1750.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.727;DP=338;ExcessHet=0;FS=2.095;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-0.343;SOR=0.884	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1011	6	0	1	0
chr21	36270020	36270020	C	G	exonic	DOP1B	.	nonsynonymous SNV	DOP1B:NM_001320714:exon27:c.C5495G:p.T1832S,DOP1B:NM_005128:exon27:c.C5495G:p.T1832S	.	421	1087	13	1	0	15	0.00685244	.	.	.	705678	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.149	0.0447626502546	0.0002	0.000998403	0.0014	0	0.0017	0.0006	0.0050	0.0006	0.0022	0.0038	0.001313	203	154602	rs138528690	0.0009	0.0009	0.0008	0.0010	0.0049	0.0009	0.0008	0.0044	0.0042	5.974e-05	0.0049	0.0004	0.0003	0.0044	0.0031	0.0004	0.0011	0.0041	0.0021	0.0021	0.0014	0.0029	0.0132	0.0019	0.0018	0.0117	0.0111	0.0003	0	0.0132	0	0.0002	0.0050	0	0.0004	0.0009	0.0050	0.149	0.24758	T	0.083	0.41405	T	0.966	0.56202	D	0.471	0.46788	P	0.000000	0.84330	D	0.000000	0.999862	0.50061	D	2.035	0.55589	M	-0.18	0.65747	T	-2.14	0.48523	N	0.589	0.60918	-0.6766	0.61529	T	0.288	0.66016	T	10	0.008863568	0.00201	T	0.044763	0.61651	D	0.149	0.39377	0.335	0.32329	0.60525595389	0.60209	0.26668270624954055	0.26581	0.517183748851	0.49591	0.702604174614	0.67520	T	0.219722	0.58281	T	-0.300677	0.08597	T	-0.204549	0.54216	T	0.0632666581784229	0.07672	T	0.79872	0.44372	T	0.2894566	0.51942	0.31221336	0.57224	0.2894566	0.51942	0.31221336	0.57223	-4.122	0.25614	T	.	.	0.197	0.41947	B	.	.	4.226269	0.63962	24.6	0.99552549758828413	0.71211	0.98616	0.84738	D	AEFDBI	0.547322	0.56107	D	0.499151384974287	0.67041	5.028983	0.537744477735815	0.70548	5.521584	0.999999994290448	0.74766	0.614807	0.35715	0	0.588066	0.40923	0	0.602189	0.34648	0	0.645948	0.59608	0	.	.	5.17	5.17	0.70848	5.666000	0.67729	7.530000	0.59902	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.038	0.92967	885	0.28214	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	590.53	30	chr21	36270020	.	C	G	590.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.434;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=-0.274;SOR=0.616	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1053	6	0	1	0
chr21	39765576	39765576	G	A	exonic	IGSF5	.	nonsynonymous SNV	IGSF5:NM_001080444:exon3:c.G142A:p.A48T	.	435	1080	7	0	0	7	0.00323027	.	.	.	3440898	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.159	0.0218231077028	.	0.000199681	8.248e-06	0	0	0	0	1.501e-05	0	0	1.94e-05	3	154602	rs73217274	4.72e-05	4.72e-05	4.764e-05	4.675e-05	0.0003	3.794e-05	3.476e-05	6.092e-05	4.197e-05	0	0	0	0	0	0.0003	5.756e-05	3.312e-05	1.159e-05	2.627e-05	2.625e-05	1.285e-05	4.03e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.203	0.20154	T	0.209	0.26798	T	0.801	0.45051	P	0.339	0.42346	B	0.222966	0.03468	N	1.586910	1	0.08975	N	1.4	0.35362	L	-0.27	0.67367	T	-1.56	0.37759	N	0.341	0.38232	-0.9268	0.44602	T	0.186	0.53571	T	10	0.12636322	0.24022	T	0.021823	0.44639	T	0.159	0.41286	0.391	0.41443	0.19670166235	0.19296	0.1909563385771872	0.19013	0.0968812118161	0.10932	0.274249702692	0.06703	T	0.064812	0.32529	T	-0.28789	0.09848	T	-0.543654	0.17939	T	0.21062670648098	0.20986	T	0.49875	0.15541	T	0.046190925	0.07691	0.062049177	0.12079	0.046190925	0.07691	0.062049177	0.12079	-2.28	0.04446	T	.	.	0.113	0.22135	B	.	.	0.534194	0.09029	5.811	0.93553604800612833	0.23387	0.06387	0.12389	N	AEFBI	0.090268	0.18293	N	-0.985409110449082	0.08914	0.4198514	-1.17223963210937	0.06377	0.3067627	3.43898544890857E-5	0.03775	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	4.05	-2.88	0.05342	1.824000	0.38710	0.630000	0.20219	-0.707000	0.03972	0.013000	0.18845	0.000000	0.08366	0.001000	0.02609	0.2242:0.3583:0.2954:0.1221	2.267	0.03831	846	0.36215	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	1361.23	45	chr21	39765576	.	G	A	1361.23	.	AC=2;AF=0.143;AN=14;DP=358;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.25;SOR=1.414	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1167	6	1	0	0
chr21	40708646	40708646	T	C	exonic	DSCAM	.	nonsynonymous SNV	DSCAM:NM_001271534:exon2:c.A169G:p.R57G,DSCAM:NM_001389:exon2:c.A169G:p.R57G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.0931381304776	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.39334	T	0.0	0.92824	D	0.322	0.33059	B	0.19	0.36341	B	0.000000	0.84330	D	0.000000	0.66823	0.33117	D	3.005	0.85968	M	2.67	0.12473	T	-2.57	0.55501	D	0.937	0.94314	-1.0248	0.22148	T	0.047	0.20077	T	10	0.74765	0.75405	D	0.093138	0.76018	D	0.276	0.59253	0.542	0.65446	0.860368456844	0.85902	0.8053165998004908	0.80486	1.67370326828	0.89891	0.80511367321	0.82742	D	0.164892	0.51053	T	0.149192	0.69193	D	-0.0234728	0.68801	D	0.982511758804321	0.74538	D	0.974903	0.91072	D	0.36230403	0.58012	0.27297428	0.53213	0.36230403	0.58012	0.27297428	0.53212	-10.269	0.75507	D	.	.	0.684	0.72295	P	.	.	4.013857	0.59233	24.1	0.99677317113092756	0.78977	0.87886	0.47583	D	AEFBI	0.495581	0.53089	N	-0.0688617582270188	0.38765	2.275423	-0.0371470524362383	0.38051	2.236411	0.860033205527814	0.25207	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.1	1.05	0.19280	4.082000	0.57357	0.925000	0.22734	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.4326:0.5674	11.817	0.51489	513	0.74941	Immunoglobulin subtype 2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	37	chr21	40708646	.	T	C	33.22	.	AC=2;AF=0.143;AN=14;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1115	6	1	0	0
chr21	41918930	41918930	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G58C:p.D20H,C2CD2:NM_015500:exon4:c.G523C:p.D175H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0154551292841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.655e-05	0.0018	8.339e-05	4.965e-05	7.588e-05	5.548e-05	5.15e-05	6.221e-05	5.689e-05	6.157e-05	0	0	2.542e-05	0	0	7.588e-05	0.0001	2.345e-05	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.081	0.39575	T	0.008	0.69154	D	0.991	0.64070	D	0.635	0.51908	P	0.000159	0.49130	D	0.177285	0.997695	0.47157	D	.	.	.	1.75	0.26301	T	-3.35	0.67241	D	0.495	0.52829	-1.0406	0.17132	T	0.094	0.35578	T	10	0.36435574	0.52982	T	0.015455	0.36203	T	0.184	0.45763	0.5	0.59147	0.412715890961	0.40891	0.48026109495753466	0.47946	0.939492545994	0.72166	0.386622190475	0.23192	T	0.11001	0.42436	T	-0.0654905	0.42045	T	-0.331849	0.41263	T	0.957460343837738	0.65017	D	0.80112	0.44691	T	0.13993374	0.32304	0.19344127	0.42913	0.13993374	0.32304	0.19344127	0.42912	-4.866	0.35351	T	.	.	0.297	0.52720	B	.;.	.;.	3.167608	0.42947	21.6	0.98968893955553749	0.49481	0.97817	0.77351	D	AEFGBCI	0.178683	0.30595	N	0.120232727473123	0.47407	2.966873	0.0765168796991302	0.43369	2.640186	0.999806047820681	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	4.65	0.57626	2.712000	0.46854	2.536000	0.33191	-0.193000	0.09282	0.998000	0.41325	0.990000	0.31317	0.261000	0.23543	0.0:0.9112:0.0:0.0888	10.542	0.44226	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	310.05	40	chr21	41918930	.	C	G	310.05	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-3.437;DP=383;ExcessHet=1.1394;FS=141.994;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.37;ReadPosRankSum=0.813;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:83,0:83:0:.:.:0,0,1454:.	1	0	3	3
chr21	41918931	41918931	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G57C:p.E19D,C2CD2:NM_015500:exon4:c.G522C:p.E174D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00492569628037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.451e-05	0.0016	7.555e-05	5.341e-05	7.873e-05	5.358e-05	4.967e-05	6.511e-05	5.999e-05	6.098e-05	0	0	0	0	0	7.873e-05	6.752e-05	1.17e-05	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.236	0.18061	T	0.601	0.07919	T	0.026	0.19406	B	0.018	0.18489	B	0.000050	0.53742	N	0.125982	0.99197	0.25906	N	.	.	.	1.63	0.29342	T	-1.04	0.27259	N	0.215	0.24010	-1.0662	0.10269	T	0.041	0.17530	T	10	0.08271399	0.13680	T	0.004926	0.12380	T	0.072	0.21020	0.35	0.34760	0.220303561663	0.21668	0.1572690006054573	0.15647	0.316597008402	0.33914	0.371157944202	0.20998	T	0.066614	0.32991	T	-0.190454	0.22190	T	-0.51135	0.21176	T	0.0971272264662142	0.12037	T	0.621038	0.23867	T	0.06723062	0.14539	0.068933986	0.14461	0.06723062	0.14538	0.068933986	0.14461	-4.061	0.26403	T	.	.	0.138	0.30076	B	.;.	.;.	-0.008587	0.04225	1.036	0.97585889396706837	0.34764	0.55769	0.29947	D	AEFGBCI	0.075069	0.15065	N	-1.00383072654947	0.08524	0.3999859	-1.03972205038638	0.08921	0.4411397	0.987282828575251	0.31228	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	-3.89	0.03916	-2.263000	0.01256	-2.617000	0.03544	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.255000	0.23391	0.0:0.2473:0.135:0.6177	7.143	0.24745	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	336.45	40	chr21	41918931	.	C	G	336.45	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-2.787;DP=380;ExcessHet=1.1394;FS=145.649;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.47;ReadPosRankSum=0.618;SOR=7.167	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:83,0:83:0:.:.:0,0,1454:.	1	0	3	3
chr21	41918933	41918933	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G55C:p.E19Q,C2CD2:NM_015500:exon4:c.G520C:p.E174Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0219031869935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.478e-05	0.0011	4.439e-05	2.512e-05	4.037e-05	2.676e-05	2.415e-05	3.06e-05	2.725e-05	3.035e-05	0	0	0	0	0	4.037e-05	6.709e-05	1.166e-05	0	6.568e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.094	0.31383	T	0.077	0.42436	T	0.993	0.65571	D	0.796	0.58006	P	0.000050	0.53742	D	0.125982	0.558298	0.35134	D	.	.	.	1.45	0.34050	T	-1.93	0.45404	N	0.445	0.48319	-0.8942	0.48558	T	0.124	0.42799	T	10	0.385596	0.54516	T	0.021903	0.44729	T	0.123	0.34020	0.335	0.32329	0.475272412942	0.47157	0.2669297999209157	0.26605	0.875831749287	0.69562	0.368384510279	0.20599	T	0.169624	0.51706	T	-0.071456	0.41094	T	-0.340418	0.40296	T	0.892000317573547	0.54302	D	0.780422	0.42483	T	0.12762854	0.29860	0.090659045	0.21273	0.12762854	0.29860	0.090659045	0.21273	-4.173	0.26359	T	.	.	0.172	0.37802	B	.;.	.;.	3.657104	0.51934	23.2	0.99734899065078686	0.83047	0.98645	0.85080	D	AEFGBCI	0.411583	0.48200	N	0.342246259245579	0.58331	4.00473	0.324919729865026	0.57008	3.865243	0.999999844603992	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	5.201000	0.64999	4.599000	0.43989	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.215000	0.22324	0.0:1.0:0.0:0.0	14.966	0.70847	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	324.25	46	chr21	41918933	.	C	G	324.25	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-3.215;DP=390;ExcessHet=1.1394;FS=127.511;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.37;ReadPosRankSum=0.646;SOR=6.993	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:88,0:88:0:.:.:0,0,1706:.	2	0	3	2
chr21	41918935	41918935	C	T	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G53A:p.R18K,C2CD2:NM_015500:exon4:c.G518A:p.R173K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00359601692473	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1386150948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.761	0.08359	T	0.824	0.03783	T	0.006	0.13644	B	0.003	0.08700	B	0.052137	0.22921	N	0.460473	1	0.08975	N	.	.	.	1.97	0.22067	T	-0.97	0.25770	N	0.104	0.11483	-0.9676	0.37693	T	0.029	0.12453	T	10	0.038707197	0.02307	T	0.003596	0.08216	T	0.021	0.04004	0.329	0.31357	0.206339911435	0.20273	0.2555764771231582	0.25471	0.271759973214	0.29688	0.306375771761	0.11360	T	0.066724	0.33019	T	-0.387639	0.02786	T	-0.625465	0.10761	T	0.0195589058417432	0.00659	T	0.449255	0.12651	T	0.03039478	0.02696	0.03585901	0.02919	0.03039478	0.02695	0.03585901	0.02918	-2.169	0.04452	T	.	.	0.084	0.09772	B	.;.	.;.	0.305913	0.06811	3.337	0.60145959432842899	0.06393	0.56893	0.30234	D	AEFGBCI	0.066391	0.12999	N	-1.29262350574295	0.03763	0.1686914	-1.29128918624558	0.04547	0.2147446	0.925456163519065	0.26816	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	0.664	0.17060	0.183000	0.16729	-0.306000	0.10077	-0.800000	0.03169	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.0:0.5278:0.1455:0.3267	4.864	0.12958	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	263.44	46	chr21	41918935	.	C	T	263.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-3.211;DP=306;ExcessHet=0.3476;FS=91.04;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.69;ReadPosRankSum=2.12;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,99,1485:.	5	0	2	0
chr21	42111458	42111458	A	G	exonic	UMODL1	.	nonsynonymous SNV	UMODL1:NM_001199527:exon11:c.A2020G:p.S674G,UMODL1:NM_173568:exon11:c.A2236G:p.S746G	.	415	1101	6	0	0	6	0.00271739	.	.	.	3632681	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.165	0.0116765166541	0.0011	0.000399361	0.0012	0.0004	0.0007	0	0.0023	0.0015	0.0011	0.0007	0.0011837	183	154602	rs200915652	0.0018	0.0018	0.0018	0.0017	0.0196	0.0017	0.0017	0.0167	0.0156	0.0011	0.0006	0.0018	0	0.0022	0.0196	0.0018	0.0020	0.0007	0.0012	0.0012	0.0013	0.0012	0.0019	0.0011	0.0010	0.0016	0.0015	0.0004	0	0.0005	0.0017	0	0.0018	0.0136	0.0019	0	0.0006	0.691	0.04302	T	0.321	0.19073	T	0.0	0.02946	B	0.002	0.06944	B	0.975513	0.07807	N	1.014940	1	0.08975	N	.	.	.	-0.6	0.71662	T	-0.25	0.11008	N	0.087	0.06454	-0.9946	0.31405	T	0.166	0.50389	T	10	0.004970312	0.00107	T	0.011677	0.29546	T	0.165	0.42395	.	.	0.0482279557977	0.04254	0.08627613683814239	0.08561	0.182222055914	0.20484	0.246062964201	0.03365	T	.	.	.	-0.624808	0.00103	T	-0.689285	0.06430	T	0.00495938468737133	0.00053	T	0.29517	0.05454	T	.	.	.	.	.	.	.	.	-3.933	0.22798	T	.	.	0.089	0.15654	B	.;.	.;.	0.205694	0.05897	2.339	0.78038125515892087	0.12129	0.00797	0.03252	N	AEFDBHCI	0.036180	0.04777	N	-1.32155953967266	0.03429	0.1531683	-1.39449599085941	0.03310	0.1541566	0.999839050104752	0.43792	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.72	-4.98	0.02794	-1.146000	0.03302	-0.430000	0.09227	0.651000	0.53179	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.1894:0.0:0.8106:0.0	15.092	0.71871	981	0.03995	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014602	0.005051	0.010870	0.049708	0.000000	0.034483	0.000000	0.000000	0.07143	1519.45	50	chr21	42111458	.	A	G	1519.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.274;DP=582;ExcessHet=0;FS=4.251;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=2.3;SOR=0.425	GT:AD:DP:GQ:PL	0/0:146,0:146:99:0,120,1800	6	0	1	0
chr21	42111559	42111559	C	A	exonic	UMODL1	.	nonsynonymous SNV	UMODL1:NM_001199527:exon11:c.C2121A:p.D707E,UMODL1:NM_173568:exon11:c.C2337A:p.D779E,UMODL1:NM_001004416:exon12:c.C1953A:p.D651E,UMODL1:NM_001199528:exon12:c.C1737A:p.D579E	.	426	1020	74	2	0	78	0.0368272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0048	0.00459265	0.0083	0.0012	0.0045	0	0.0023	0.0080	0.0056	0.0233	0.0075549	1168	154602	rs140135030	0.0070	0.0070	0.0063	0.0077	0.0354	0.0069	0.0068	0.0314	0.0299	0.0009	0.0054	0.0232	5.039e-05	0.0014	0.0354	0.0057	0.0088	0.0249	0.0054	0.0054	0.0051	0.0057	0.0188	0.0051	0.0050	0.0157	0.0146	0.0011	0	0.0082	0.0199	0	0.0007	0.0204	0.0067	0.0081	0.0188	0.325	0.27194	T	0.733	0.12142	T	0.187	0.31319	B	0.08	0.28873	B	0.185998	0.03216	N	1.688570	1	0.08975	N	1.5	0.37844	L	-0.53	0.70833	T	-0.8	0.22078	N	0.07	0.12055	-0.9874	0.33249	T	0.137	0.45432	T	10	0.002900362	0.00046	T	.	.	.	0.025	0.05312	0.13	0.03494	0.265010934533	0.26120	0.09560597137393033	0.09492	0.313514092549	0.33644	0.258530199528	0.04717	T	0.004089	0.03502	T	-0.549777	0.00293	T	-0.544907	0.17817	T	0.00342129005796419	0.00036	T	0.59884	0.23175	T	0.059739888	0.12177	0.045058846	0.05978	0.059739888	0.12177	0.045058846	0.05978	-2.767	0.07883	T	.	.	0.147	0.50871	B	.;.;.;.	.;.;.;.	-0.189392	0.03145	0.508	0.76817094624353499	0.11621	0.04875	0.10616	N	AEFDBHCI	0.102208	0.20509	N	-0.986139826949741	0.08899	0.4190532	-1.0491067709566	0.08725	0.4304242	0.996676952249143	0.34917	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.29	0.034	0.13502	-0.668000	0.05369	-1.372000	0.05595	0.518000	0.23583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5592:0.1545:0.2863	5.142	0.14292	981	0.03995	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.032226	0.035354	0.020380	0.023392	0.000000	0.043103	0.039634	0.049242	0.1429	2297.24	63	chr21	42111559	.	C	A	2297.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.89;DP=584;ExcessHet=0.3476;FS=0.55;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=0.976;SOR=0.768	GT:AD:DP:GQ:PL	0/1:89,82:171:99:2196,0,2250	5	0	2	0
chr21	42111593	42111593	T	C	exonic	UMODL1	.	nonsynonymous SNV	UMODL1:NM_001199527:exon11:c.T2155C:p.S719P,UMODL1:NM_173568:exon11:c.T2371C:p.S791P,UMODL1:NM_001004416:exon12:c.T1987C:p.S663P,UMODL1:NM_001199528:exon12:c.T1771C:p.S591P	.	429	1086	7	0	0	7	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.0148257626651	.	0.000399361	0.0002	0	0	0	0.0008	3.003e-05	0	0.0011	0.0001746	27	154602	rs553631324	0.0001	0.0001	0.0001	0.0002	0.0013	0.0001	0.0001	0.0011	0.0011	0	0	0	0	0.0014	0.0005	8.094e-06	0.0001	0.0013	0.0001	0.0001	0.0001	0.0002	0.0008	9.739e-05	8.254e-05	0.0003	0.0002	0	0	0	0	0	0.0015	0	2.941e-05	0	0.0008	0.343	0.12592	T	0.318	0.19246	T	0.0	0.02946	B	0.0	0.04355	B	0.314422	0.14377	N	0.611410	1	0.08975	N	-0.14	0.04484	N	-0.6	0.71662	T	1.42	0.00815	N	0.109	0.09490	-0.9756	0.35993	T	0.090	0.34573	T	10	0.0057704747	0.00129	T	0.014826	0.35199	T	0.127	0.34888	0.189	0.09907	0.0716867268079	0.06686	0.1703258141373605	0.16952	0.319286686328	0.34132	0.254522800446	0.04259	T	0.001873	0.01289	T	-0.500412	0.00569	T	-0.542025	0.18099	T	0.0273917471023403	0.01600	T	0.346465	0.07620	T	0.04821682	0.08370	0.047930516	0.07013	0.04821682	0.08369	0.047930516	0.07012	-2.774	0.08896	T	.	.	0.053	0.01645	B	.;.;.;.	.;.;.;.	-0.397575	0.02222	0.224	0.50706070103927592	0.04431	0.00267	0.01455	N	AEFBHCI	0.027069	0.02146	N	-1.33620277001426	0.03270	0.1457904	-1.2685012914925	0.04862	0.2303944	0.998360629382411	0.36832	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.37	2.23	0.27189	-0.449000	0.06885	-0.296000	0.10153	-0.376000	0.05418	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1858:0.5258:0.1809:0.1075	2.599	0.04565	981	0.03995	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.1429	2875.22	89	chr21	42111593	.	T	C	2875.22	.	AC=2;AF=0.143;AN=14;DP=600;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=32.31;SOR=1.022	GT:AD:DP:GQ:PL	0/0:164,0:164:99:0,120,1800	6	1	0	0
chr21	42137640	42137722	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	0	splicing	UMODL1	.	.	.	.	432	559	239	60	232	591	0.24306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2812.68	33	chr21	42137640	.	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	*	2812.68	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.58;DP=360;ExcessHet=0;FS=0.937;MLEAC=2;MLEAF=0.143;MQ=59.93;MQRankSum=0;QD=17.92;ReadPosRankSum=-1.281;SOR=0.904	GT:AD:DP:GQ:PL	0/1:0,33:69:99:2476,1355,1775	5	0	2	0
chr21	42443365	42443365	T	G	exonic	UBASH3A	.	nonsynonymous SNV	UBASH3A:NM_001001895:exon12:c.T1571G:p.M524R,UBASH3A:NM_018961:exon13:c.T1685G:p.M562R	.	405	1114	3	0	0	3	0.00134469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.0268901201952	0.0007	0.000399361	0.0008	0.0002	0.0008	0	0.0003	0.0011	0.0023	0.0003	0.0007827	121	154602	rs148730063	0.0007	0.0007	0.0007	0.0007	0.0009	0.0006	0.0006	0.0007	0.0007	0.0001	0.0007	0.0002	0	0.0002	0.0009	0.0008	0.0008	0.0003	0.0007	0.0007	0.0009	0.0006	0.0012	0.0006	0.0006	0.0010	0.0009	7.229e-05	0	0.0011	0.0006	0	0	0	0.0012	0.0019	0.0004	0.028	0.46129	D	0.157	0.40267	T	0.001	0.14184	B	0.001	0.24394	B	0.130077	0.18672	N	0.492681	1	0.08975	N	-0.41	0.02942	N	-0.53	0.70833	T	-2.18	0.49187	N	0.282	0.31925	-1.0068	0.27912	T	0.127	0.43339	T	10	0.015376717	0.00323	T	0.02689	0.49757	D	0.186	0.46104	.	.	0.391930172978	0.38808	0.6982626435379021	0.69767	0.249182123757	0.27491	0.485067844391	0.36756	T	0.277628	0.65025	T	-0.38097	0.03072	T	-0.327277	0.41772	T	0.0188511043320546	0.00596	T	0.304969	0.05824	T	0.5523559	0.70087	0.35319978	0.60885	0.5523559	0.70088	0.35319978	0.60885	-2.319	0.04661	T	.	.	0.182	0.42097	B	.;.	.;.	1.511285	0.19414	14.25	0.76367757919272539	0.11440	0.04217	0.09732	N	AEFDGBI	0.055293	0.10127	N	-1.00914490453397	0.08413	0.3943926	-1.00356437100893	0.09706	0.484479	0.995766124229904	0.34312	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	3.54	2.4	0.28568	1.141000	0.31140	1.205000	0.24865	0.664000	0.56970	0.003000	0.16062	0.003000	0.18671	0.019000	0.11356	0.0:0.1261:0.0:0.8739	5.475	0.15984	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.007576	0.07143	483.53	34	chr21	42443365	.	T	G	483.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.455;DP=214;ExcessHet=0;FS=3.22;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-1.093;SOR=0.269	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1316	6	0	1	0
chr21	42477368	42477368	A	C	exonic	RSPH1	.	nonsynonymous SNV	RSPH1:NM_001286506:exon6:c.T536G:p.L179W,RSPH1:NM_080860:exon7:c.T650G:p.L217W	Ciliary dyskinesia, primary, 24, Autosomal recessive	419	1072	30	1	0	32	0.0147059	.	.	.	243626	not_provided|Primary_ciliary_dyskinesia|not_specified|Primary_ciliary_dyskinesia_24	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MONDO:MONDO:0014202,MedGen:C3809634,OMIM:615481,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.337	.	0.0075	0.00259585	0.0073	0.0017	0.0037	0.0001	0.0020	0.0107	0.0044	0.0054	0.0071603	1107	154602	rs138007679	0.0087	0.0087	0.0087	0.0088	0.0199	0.0086	0.0086	0.0170	0.0159	0.0011	0.0044	0.0179	2.519e-05	0.0018	0.0199	0.0097	0.0100	0.0053	0.0070	0.0070	0.0074	0.0066	0.0108	0.0067	0.0065	0.0101	0.0098	0.0017	0.0100	0.0092	0.0201	0	0.0007	0.0310	0.0108	0.0083	0.0030	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.981	0.75168	D	0.069443	0.21604	N	0.437144	0.995387	0.23650	N	2.22	0.62911	M	-0.43	0.71662	T	-4.18	0.76094	D	0.69	0.69562	-0.5802	0.65609	T	0.360	0.72201	T	10	0.009697765	0.00218	T	.	.	.	0.337	0.65913	.	.	0.651676189787	0.64878	0.7483150795058281	0.74777	0.640128570775	0.57655	0.587133646011	0.51090	T	0.518742	0.83130	D	-0.320675	0.06842	T	-0.223016	0.52446	T	0.0454924431433719	0.04692	T	0.805019	0.45286	T	0.17939371	0.39008	0.2904774	0.55070	0.19862854	0.41773	0.2573554	0.51450	-7.512	0.57912	D	.	.	0.435	0.64265	A	.;.	.;.	3.936228	0.57567	23.9	0.95818254659302704	0.27904	0.70193	0.34490	D	AEFDGBCI	0.477952	0.52072	N	0.412952004087937	0.62133	4.424404	0.297161445250001	0.55373	3.700439	0.999999681311236	0.74766	0.554377	0.28877	0	0.296712	0.05252	1	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.3	4.3	0.50540	5.217000	0.65084	10.629000	0.83502	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.008000	0.08271	0.9018:0.0:0.0982:0.0	7.699	0.27779	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.014617	0.025253	0.016304	0.008824	0.000000	0.017241	0.015244	0.007576	0.1429	97.4	34	chr21	42477368	.	A	C	97.4	.	AC=2;AF=0.143;AN=14;DP=223;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=24.35;SOR=1.609	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1193	6	1	0	0
chr21	43676857	43676857	G	A	exonic	RRP1B	.	nonsynonymous SNV	RRP1B:NM_015056:exon8:c.G739A:p.E247K	.	418	1095	9	0	0	9	0.00409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.00886660971492	0.0008	0.00139776	0.0006	9.61e-05	0	0	0.0003	0.0007	0.0011	0.0015	0.0006404	99	154602	rs150529292	0.0007	0.0007	0.0006	0.0007	0.0024	0.0006	0.0006	0.0016	0.0015	5.974e-05	0.0002	3.826e-05	0	0.0002	0.0024	0.0006	0.0009	0.0019	0.0005	0.0005	0.0006	0.0005	0.0027	0.0004	0.0004	0.0016	0.0013	0.0001	0	0.0004	0	0	9.407e-05	0	0.0008	0	0.0027	.	.	.	0.042	0.50226	D	0.014	0.16867	B	0.01	0.14941	B	0.460889	0.12393	N	0.785817	1	0.08975	N	2.08	0.57402	M	1.32	0.35219	T	-2.73	0.58085	D	0.391	0.43223	-0.9948	0.31352	T	0.095	0.35950	T	10	0.008585334	0.00194	T	0.008867	0.23390	T	0.091	0.26358	.	.	0.452450644169	0.44866	0.281595001422961	0.28072	0.446550992324	0.44524	0.29518276453	0.09684	T	0.208239	0.56812	T	-0.583004	0.00185	T	-0.623451	0.10916	T	0.0268143102351685	0.01518	T	0.437256	0.12012	T	0.59427935	0.72382	0.2638058	0.52192	0.59427935	0.72383	0.2638058	0.52191	-7.913	0.60476	D	.	.	0.072	0.04356	B	.	.	2.119634	0.26979	17.31	0.98529986422526283	0.42582	0.67601	0.33492	D	AEFBI	0.127706	0.24519	N	-0.471554878597124	0.23016	1.233033	-0.464581952063769	0.23136	1.260186	0.999710465902788	0.42101	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.61	4.72	0.59248	3.287000	0.51438	2.498000	0.33015	0.676000	0.76740	0.174000	0.23986	0.074000	0.22270	0.001000	0.02609	0.09:0.0:0.91:0.0	10.820	0.45801	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.008621	0.003049	0.000000	0.07143	995.45	33	chr21	43676857	.	G	A	995.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.304;DP=265;ExcessHet=0;FS=0.793;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-0.566;SOR=0.657	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1332	6	0	1	0
chr21	43746121	43746121	C	T	exonic	PDXK	.	nonsynonymous SNV	PDXK:NM_001331030:exon4:c.C254T:p.S85L,PDXK:NM_003681:exon5:c.C374T:p.S125L	.	422	1095	5	0	0	5	0.0022779	.	.	.	1001183	Neuropathy,_hereditary_motor_and_sensory,_type_VIc,_with_optic_atrophy|not_provided	MONDO:MONDO:0032792,MedGen:C5193137,OMIM:618511|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.303	0.0550394663861	0.0024	0.00119808	0.0025	0.0003	0.0004	0	0.0030	0.0038	0.0011	0.0016	0.0025032	387	154602	rs77734576	0.0030	0.0030	0.0031	0.0030	0.0035	0.0029	0.0029	0.0034	0.0034	0.0004	0.0004	0.0008	2.52e-05	0.0042	0.0002	0.0035	0.0021	0.0015	0.0022	0.0022	0.0024	0.0020	0.0038	0.0020	0.0019	0.0035	0.0033	0.0006	0	0.0004	0.0012	0	0.0031	0	0.0038	0.0014	0.0010	0.059	0.37536	T	0.331	0.31026	T	0.446	0.38591	B	0.063	0.27757	B	0.001057	0.40475	N	0.249786	0.997797	0.44199	D	2.645	0.77386	M	-1.06	0.76819	T	-2.84	0.59873	D	0.485	0.53445	-0.5058	0.68439	T	0.344	0.70908	T	10	0.014126718	0.00298	T	0.055039	0.66082	D	0.303	0.62400	.	.	0.689125373571	0.68646	0.7811901054676708	0.78070	0.564421576671	0.52825	0.389141976833	0.23549	T	0.358579	0.72511	T	-0.293849	0.09253	T	-0.193641	0.55248	T	0.0359377036593191	0.02969	T	0.889011	0.67446	D	0.502382	0.67235	0.31097314	0.57106	0.502382	0.67235	0.31097314	0.57105	-5.593	0.77721	T	0.3813205934037234	0.47571	0.135	0.29228	B	.;.;.	.;.;.	3.081681	0.41459	21.4	0.97057414727168356	0.32180	0.96119	0.67620	D	AEFDGBIJ	0.567065	0.57280	D	-0.162136591143082	0.34719	1.985231	-0.167445676889223	0.32742	1.865837	0.999991207319354	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.36	3.45	0.38602	3.294000	0.51494	1.644000	0.27808	0.584000	0.30380	1.000000	0.71638	0.909000	0.28100	0.354000	0.25750	0.3179:0.6821:0.0:0.0	11.77	0.51223	982	0.03397	.;Pyridoxamine kinase/Phosphomethylpyrimidine kinase;Pyridoxamine kinase/Phosphomethylpyrimidine kinase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.07143	1718.53	35	chr21	43746121	.	C	T	1718.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.77;DP=328;ExcessHet=0;FS=3.836;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=0.29;SOR=0.458	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1193	6	0	1	0
chr21	44305831	44305831	C	T	exonic	PFKL	.	nonsynonymous SNV	PFKL:NM_001002021:exon4:c.C131T:p.T44I	Hemolytic anemia due to phosphofructokinase deficiency (1)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.00737936958494	.	.	0.0002	0	0	0	0	0.0002	0	0.0005	0.0001488	23	154602	rs199690149	0.0001	0.0001	8.976e-05	0.0001	0.0031	0.0001	9.685e-05	0.0019	0.0015	7.605e-05	2.685e-05	0.0005	0	0	0.0031	4.089e-05	0.0003	0.0008	9.194e-05	9.186e-05	6.426e-05	0.0001	0.0008	5.525e-05	4.362e-05	0.0003	0.0002	2.407e-05	0	0.0001	0	0	0	0.0034	5.881e-05	0.0009	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1926.45	43	chr21	44305831	.	C	T	1926.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.45;DP=312;ExcessHet=0;FS=1.466;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.19;ReadPosRankSum=0.561;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,110,1308:.	6	0	1	0
chr21	44509367	44509367	C	A	exonic	TSPEAR	.	nonsynonymous SNV	TSPEAR:NM_144991:exon10:c.G1586T:p.W529L,TSPEAR:NM_001272037:exon11:c.G1382T:p.W461L	Deafness, autosomal recessive 98, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.635	0.0619774273732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.12632	T	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.82	0.82106	M	-1.3	0.79571	T	-4.87	0.81269	D	0.865	0.86191	0.132	0.84745	D	0.634	0.87171	D	10	0.8623754	0.85463	D	0.061977	0.68504	D	0.635	0.86027	0.577	0.70217	0.762197071436	0.76002	0.6206158775675715	0.61994	0.140100657607	0.15791	0.657496094704	0.61051	T	0.647211	0.89251	D	0.369174	0.87979	D	0.292517	0.87826	D	0.998793840408325	0.95188	D	0.947505	0.79737	D	0.6984085	0.77970	0.47742188	0.69725	0.6984085	0.77971	0.47742188	0.69725	-14.58	0.94789	D	0.5705091678606617	0.63771	0.635	0.70321	P	.;.	.;.	5.346235	0.89688	31	0.97654459607078636	0.35160	0.98421	0.82603	D	AEFDBI	0.870148	0.79100	D	0.535013716158954	0.69176	5.319866	0.472170548641907	0.66153	4.915096	0.999999999999995	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	3.98	3.98	0.45383	7.191000	0.77294	7.341000	0.58248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.766000	0.36367	0.0:1.0:0.0:0.0	17.024	0.86315	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	38	chr21	44509367	.	C	A	33.22	.	AC=2;AF=0.143;AN=14;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	1	0	0
chr21	44533884	44533884	C	T	exonic	TSPEAR	.	nonsynonymous SNV	TSPEAR:NM_144991:exon3:c.G343A:p.D115N,TSPEAR:NM_001272037:exon4:c.G139A:p.D47N	Deafness, autosomal recessive 98, Autosomal recessive	7	1497	17	1	0	19	0.00630601	.	.	.	497833	not_provided|TSPEAR-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.045	0.0150867576654	0.0022	0.00139776	0.0012	0.0042	0.0013	0	0.0002	0.0009	0.0012	0.0014	0.0010673	165	154602	rs144586270	0.0009	0.0009	0.0009	0.0009	0.0236	0.0008	0.0008	0.0204	0.0191	0.0054	0.0013	0.0006	2.519e-05	3.843e-05	0.0236	0.0006	0.0021	0.0015	0.0019	0.0019	0.0018	0.0019	0.0044	0.0017	0.0016	0.0039	0.0037	0.0044	0	0.0016	0.0014	0	9.47e-05	0.0136	0.0008	0.0052	0.0006	0.456	0.08839	T	0.533	0.10000	T	0.01	0.15535	B	0.002	0.06944	B	0.031530	0.25155	N	0.462162	1	0.08975	N	1.64	0.41913	L	4.52	0.01997	T	-0.45	0.14782	N	0.206	0.22870	-0.9011	0.47878	T	0.004	0.01192	T	10	0.003951758	0.00076	T	0.015087	0.35618	T	0.045	0.12272	.	.	0.0138822411134	0.00435	0.4449944534404492	0.44417	0.0634877606661	0.07066	0.592923879623	0.51908	T	0.038484	0.24856	T	-0.694762	0.00039	T	-0.770213	0.02761	T	0.0016713093738103	0.00017	T	0.864713	0.56210	D	0.0322466	0.03213	0.021476898	0.00198	0.0322466	0.03212	0.021476898	0.00198	-3.88	0.22002	T	0.11579110290324453	0.10399	0.106	0.19518	B	.;.	.;.	1.356134	0.17643	13.29	0.94917309531815186	0.25787	0.13227	0.17736	N	AEFDBI	0.152058	0.27667	N	-1.07096360472456	0.07182	0.3328898	-1.04269786127353	0.08860	0.4377163	0.926103053978709	0.26839	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.95	3.12	0.34986	0.775000	0.26351	1.171000	0.24625	-0.184000	0.09925	0.010000	0.18352	0.080000	0.22369	0.090000	0.17789	0.0:0.5886:0.1629:0.2484	5.447	0.15839	970	0.06235	Laminin G domain;Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.022200	0.005051	0.036785	0.032164	0.050000	0.035088	0.006098	0.007576	0.07143	979.53	34	chr21	44533884	.	C	T	979.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.57;DP=250;ExcessHet=0;FS=0.902;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=1.83;SOR=0.854	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1131	6	0	1	0
chr21	44551034	44551034	A	G	exonic	KRTAP10-2	.	nonsynonymous SNV	KRTAP10-2:NM_198693:exon1:c.T425C:p.V142A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.0020677754418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	0.724	0.05274	T	0.264	0.31602	B	0.07	0.27859	B	.	.	.	.	0.999999	0.08975	N	3.375	0.91388	M	5.86	0.00639	T	-2.1	0.47852	N	0.026	0.00527	-0.9452	0.41781	T	0.004	0.01159	T	9	0.110670686	0.20693	T	0.002068	0.03801	T	0.107	0.30369	0.337	0.32654	0.0297737177859	0.01360	0.031312288970946504	0.03080	0.0649205361003	0.07250	0.21933118999	0.01272	T	0.068	0.33423	T	-0.248159	0.14325	T	-0.59424	0.13300	T	0.176128617925031	0.18987	T	0.079692	0.00587	T	0.101785	0.24046	0.11898601	0.28721	0.101785	0.24045	0.11898601	0.28720	-7.608	0.58367	D	.	.	0.137	0.29779	B	.	.	1.133299	0.15202	11.67	0.68649920505881068	0.08724	0.01864	0.05751	N	AEFDBHCI	0.016230	0.00353	N	-0.968161164653523	0.09289	0.4390299	-1.19915603613086	0.05925	0.2836907	0.999999983532289	0.74766	0.615755	0.39536	0	0.563428	0.19063	0	0.618376	0.41669	0	0.562822	0.20929	0	.	.	3.47	-5.9	0.02087	-1.130000	0.03353	-20.000000	0.00162	0.704000	0.85292	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.2866:0.1621:0.2317:0.3196	0.102	0.00046	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	3900.44	165	chr21	44551034	.	A	G	3900.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.482;DP=1534;ExcessHet=0;FS=2.559;MLEAC=1;MLEAF=0.071;MQ=59.93;MQRankSum=-0.888;QD=13.45;ReadPosRankSum=-0.309;SOR=0.549	GT:AD:DP:GQ:PL	0/0:421,0:421:99:0,120,1800	6	0	1	0
chr21	44551359	44551359	G	C	exonic	KRTAP10-2	.	nonsynonymous SNV	KRTAP10-2:NM_198693:exon1:c.C100G:p.P34A	.	402	1093	27	0	0	27	0.0122006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.006857973493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	9.167e-05	1.363e-06	1.377e-06	8.998e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.882e-05	0	8.998e-07	0	0	0	8.542e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.023	0.48186	D	0.02	0.58613	D	0.478	0.36706	P	0.091	0.29943	B	.	.	.	.	1	0.81001	D	3.16	0.88528	M	3.0	0.09167	T	-6.29	0.90729	D	0.238	0.26837	-1.0128	0.26038	T	0.028	0.12103	T	9	0.13086596	0.24905	T	0.006858	0.18149	T	0.087	0.25287	0.333	0.32005	0.0884992946249	0.08302	0.03211818367877377	0.03159	0.300726370093	0.32425	0.229376748204	0.01922	T	0.127584	0.45469	T	-0.198584	0.21010	T	-0.523029	0.19988	T	0.447525978088379	0.30707	T	0.312169	0.06100	T	0.13163373	0.30675	0.17131019	0.39304	0.13163373	0.30675	0.17131019	0.39303	-4.914	0.35892	T	.	.	0.062	0.01290	B	.	.	1.620237	0.20694	14.87	0.98068983843560442	0.38007	0.30434	0.24081	N	AEFDBCI	0.050713	0.08891	N	-0.554406046105279	0.20345	1.071862	-0.703070291077853	0.16883	0.895275	0.988170957980781	0.31436	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.43	0.099	0.13807	0.068000	0.14398	0.830000	0.21939	0.614000	0.49286	0.017000	0.19353	0.342000	0.24428	0.020000	0.11549	0.3746:0.0:0.4188:0.2066	2.724	0.04886	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	129.53	70	chr21	44551359	.	G	C	129.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.616;DP=554;ExcessHet=0;FS=9.195;MLEAC=1;MLEAF=0.071;MQ=58.11;MQRankSum=-11.15;QD=1.03;ReadPosRankSum=-4.471;SOR=2.228	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:98,0:98:99:.:.:0,120,1800:.	6	0	1	0
chr21	44551362	44551362	T	C	exonic	KRTAP10-2	.	nonsynonymous SNV	KRTAP10-2:NM_198693:exon1:c.A97G:p.T33A	.	408	1090	23	0	1	24	0.0104403	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00142929991798	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1217442880	4.793e-06	4.036e-05	4.088e-06	5.505e-06	7.557e-05	1.99e-06	1.28e-06	2.004e-05	1.055e-05	2.993e-05	0	0	7.557e-05	0	0	2.698e-06	0	0	6.61e-06	8.547e-05	0	1.352e-05	2.43e-05	0	0	.	.	2.43e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999998	0.08975	N	-1.02	0.01137	N	4.24	0.02590	T	1.45	0.00785	N	0.039	0.01274	-0.9355	0.43318	T	0.003	0.00864	T	9	0.018336236	0.00398	T	0.001429	0.02139	T	0.011	0.01250	0.315	0.29096	0.0138822411134	0.00435	0.024435020588935916	0.02394	0.0552981535994	0.06117	0.204471498728	0.00598	T	3.31E-4	0.00092	T	-0.407219	0.02074	T	-0.822718	0.01398	T	0.0476021624331106	0.05072	T	0.0221311	0.00124	T	0.034739908	0.03955	0.05054988	0.07957	0.034739908	0.03955	0.05054988	0.07956	-0.368	0.00509	T	.	.	0.061	0.01075	B	.	.	-1.749766	0.00175	0.003	0.3695739840024776	0.02407	0.00670	0.02889	N	AEFDBI	0.019060	0.00629	N	-2.14786708741459	0.00100	0.004289547	-2.13022293796069	0.00160	0.007038055	0.999340541081315	0.39222	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.43	-4.44	0.03308	-3.119000	0.00657	-13.254000	0.00470	-0.979000	0.01905	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.3951:0.2361:0.3687	5.979	0.18627	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	69.49	70	chr21	44551362	.	T	C	69.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.187;DP=553;ExcessHet=0;FS=13.645;MLEAC=1;MLEAF=0.071;MQ=58.38;MQRankSum=-11.02;QD=0.56;ReadPosRankSum=-3.5;SOR=2.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:98,0:98:99:.:.:0,120,1800:.	6	0	1	0
chr21	44600767	44600767	-	CAGCT	exonic	KRTAP10-7	.	frameshift insertion	KRTAP10-7:NM_198689:exon1:c.146_147insCAGCT:p.A50Sfs*6	.	398	1104	3	0	17	20	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.516e-05	0.0001	1.371e-05	1.662e-05	0.0002	9.92e-06	8.47e-06	0.0001	8.963e-05	0.0002	0	0	0	5.661e-05	0.0002	1.805e-06	3.347e-05	7.127e-05	0.0001	0.0016	0.0001	0.0001	0.0002	7.864e-05	6.518e-05	0.0001	9.292e-05	0.0002	0	6.681e-05	0	0.0002	0	0	8.907e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	31.79	33	chr21	44600767	.	C	CCAGCT	31.79	.	AC=2;AF=0.143;AN=14;DP=386;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=31.79;SOR=1.609	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1333	6	1	0	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	6171.01	33	chr21	44637708	.	TGTCTGCTGTGTGCCC	*	6171.01	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.365;DP=1211;ExcessHet=0.0921;FS=0;MLEAC=3;MLEAF=0.214;MQ=59.97;MQRankSum=-0.972;QD=6.53;ReadPosRankSum=1.58;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1243:.	5	1	1	0
chr21	44637763	44637763	G	A	exonic	KRTAP10-10	.	nonsynonymous SNV	KRTAP10-10:NM_181688:exon1:c.G346A:p.V116M	.	419	1100	1	0	2	3	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0059	0.00579073	0.0016	0.0168	0.0009	0	0.0011	4.503e-05	0	0.0002	0.0015653	242	154602	rs60500206	0.0007	0.0006	0.0008	0.0006	0.0263	0.0007	0.0006	0.0245	0.0238	0.0263	0.0013	0	5.281e-05	0.0008	0.0026	8.688e-05	0.0014	0.0001	0.0050	0.0050	0.0054	0.0045	0.0174	0.0047	0.0045	0.0164	0.0159	0.0174	0	0.0016	0	0	0.0008	0.0072	5.936e-05	0.0039	0	0.108	0.29420	T	0.108	0.37589	T	0.998	0.73220	D	0.806	0.58437	P	.	.	.	.	1	0.08975	N	3.48	0.92553	M	4.96	0.01366	T	-0.7	0.19933	N	0.136	0.13341	-0.9838	0.34116	T	0.005	0.01542	T	9	0.0048567653	0.00103	T	.	.	.	0.023	0.04649	.	.	0.238705975628	0.23479	0.030460013419046823	0.02995	0.0500424413374	0.05496	0.263081908226	0.05262	T	0.021564	0.16767	T	-0.669473	0.00055	T	-0.720803	0.04757	T	0.0406474130826694	0.03807	T	0.0145985	0.00080	T	0.056676358	0.11181	0.061986573	0.12055	0.056676358	0.11180	0.061986573	0.12055	-6.953	0.53690	T	.	.	0.111	0.21728	B	.	.	1.085854	0.14694	11.24	0.9019830517191566	0.19473	0.00268	0.01460	N	AEFDGBHI	0.020735	0.00849	N	-0.504750831884084	0.21926	1.167182	-0.796574698073904	0.14579	0.7624747	0.286646566186326	0.19043	0.608966	0.35542	0	0.573888	0.26702	0	0.769059	0.98459	0	0.613276	0.41899	0	.	.	3.47	-2.47	0.06070	-0.063000	0.11612	-3.387000	0.02826	0.503000	0.22915	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3547:0.0:0.4884:0.1569	4.708	0.12239	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.08333	5744.27	33	chr21	44637763	.	G	A	5744.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.63;DP=1574;ExcessHet=0;FS=1.108;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=1.72;SOR=0.577	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1243	5	0	1	1
chr21	44697482	44697482	G	A	exonic	KRTAP10-12	.	nonsynonymous SNV	KRTAP10-12:NM_198699:exon1:c.G281A:p.C94Y	.	393	1128	1	0	0	1	0.000443066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0025540283461	.	.	8.292e-06	0	0	0	0	1.503e-05	0	0	.	.	.	rs782258353	6.157e-06	6.84e-06	1.361e-06	1.1e-05	0.0005	2.9e-06	2.1e-06	0.0001	7.555e-05	5.981e-05	0	0	0	0	0.0005	1.799e-06	1.656e-05	1.159e-05	1.313e-05	1.312e-05	0	2.686e-05	2.405e-05	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0	0.016	0.51853	D	0.014	0.67890	D	0.995	0.67487	D	0.879	0.62418	P	.	.	.	.	0.999982	0.54805	D	3.735	0.94896	H	4.38	0.02255	T	-10.29	0.98960	D	0.31	0.34981	-1.0813	0.07099	T	0.038	0.16419	T	9	0.4236558	0.57030	T	0.002554	0.05121	T	0.173	0.43840	.	.	0.119812018005	0.11559	0.09495679103829552	0.09427	0.453621968421	0.45050	0.284245431423	0.08091	T	0.174941	0.52435	T	-0.200639	0.20712	T	-0.429127	0.30033	T	0.650244116783142	0.38472	D	0.567243	0.20104	T	0.60575134	0.73000	0.732559	0.84196	0.60575134	0.73001	0.732559	0.84197	-7.561	0.58038	D	.	.	0.156	0.46574	B	.;.	.;.	4.261477	0.64772	24.7	0.91591214707755841	0.20873	0.80840	0.40377	D	AEFBI	0.390367	0.46922	N	0.393879053139913	0.61091	4.305556	0.192222494582438	0.49419	3.145404	0.998616191383482	0.37309	0.446893	0.09132	0	0.563428	0.19063	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	3.49	2.55	0.29757	2.543000	0.45411	7.176000	0.57738	0.618000	0.50648	0.987000	0.36337	1.000000	0.68203	0.898000	0.43474	0.0:0.4177:0.5823:0.0	9.643	0.39013	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001586	0.005051	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	3602.44	37	chr21	44697482	.	G	A	3602.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.184;DP=510;ExcessHet=0;FS=2.608;MLEAC=1;MLEAF=0.071;MQ=58.31;MQRankSum=-4.575;QD=12.42;ReadPosRankSum=-1.62;SOR=0.542	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1270	6	0	1	0
chr21	45185015	45185015	G	A	exonic	ADARB1	.	nonsynonymous SNV	ADARB1:NM_001112:exon8:c.G1489A:p.A497T,ADARB1:NM_001160230:exon8:c.G1489A:p.A497T,ADARB1:NM_001346687:exon8:c.G1756A:p.A586T,ADARB1:NM_001346688:exon8:c.G1489A:p.A497T,ADARB1:NM_015833:exon9:c.G1609A:p.A537T,ADARB1:NM_015834:exon9:c.G1609A:p.A537T	.	.	.	.	.	.	.	.	.	.	.	3660291	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.309	0.0646460613144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.722e-06	1.375e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.17183	T	0.424	0.15988	T	0.0	0.07471	B	0.009	0.14300	B	0.000022	0.55875	D	0.152428	0.975461	0.39191	D	0.65	0.16133	N	-3.23	0.93414	D	-0.3	0.11913	N	0.06	0.06454	-0.1616	0.78631	T	0.576	0.84716	D	10	0.14164609	0.26911	T	0.064646	0.69339	D	0.309	0.63055	0.544	0.65731	0.499560901647	0.49592	0.19601277324039024	0.19518	.	.	0.53509169817	0.43751	T	0.268529	0.64065	T	-0.0348019	0.46717	T	-0.287767	0.46004	T	0.742333471775055	0.42863	D	0.89791	0.64723	D	0.1109181	0.26213	0.083515376	0.19145	0.1109181	0.26213	0.083515376	0.19145	-1.921	0.06025	T	0.09116784109446203	0.05756	0.079	0.07650	B	.;.;.;.;.	.;.;.;.;.	2.913688	0.38653	20.8	0.98978099348672122	0.49680	0.71588	0.35078	D	AEFGBI	0.139711	0.26140	N	-0.250997271804417	0.31064	1.738155	-0.0879636658384562	0.35886	2.081591	0.977940562244576	0.29871	0.706298	0.61202	0	0.546412	0.12157	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.42	4.52	0.54797	4.383000	0.59366	6.223000	0.55146	0.671000	0.69459	0.993000	0.37899	1.000000	0.68203	0.727000	0.35000	0.1683:0.0:0.8317:0.0	8.912	0.34720	934	0.15400	Adenosine deaminase/editase|Adenosine deaminase/editase|Adenosine deaminase/editase;.;.;.;Adenosine deaminase/editase|Adenosine deaminase/editase|Adenosine deaminase/editase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	829.49	41	chr21	45185015	.	G	A	829.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.045;DP=249;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=2.26;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1076	6	0	1	0
chr21	45476424	45476424	C	T	exonic	COL18A1	.	nonsynonymous SNV	COL18A1:NM_030582:exon5:c.C1412T:p.T471M,COL18A1:NM_130444:exon5:c.C2117T:p.T706M,COL18A1:NM_001379500:exon6:c.C872T:p.T291M	Knobloch syndrome, type 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1410558	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.184	0.0568091953258	0.0002	0.000199681	3.531e-05	0.0003	0	0	0	1.583e-05	0	0	3.88e-05	6	154602	rs201652671	3.352e-05	3.352e-05	3.812e-05	2.888e-05	0.0009	2.566e-05	2.312e-05	0.0003	0.0002	0.0003	0.0001	0	0.0002	0	0.0009	1.439e-05	0.0001	0	0.0001	0.0001	8.994e-05	0.0001	0.0003	6.507e-05	5.319e-05	0.0002	0.0001	0.0003	0	0.0001	0	0	0	0	2.94e-05	0	0	0.013	0.58626	D	0.263	0.26386	T	0.067	0.23653	B	0.006	0.12133	B	0.016462	0.01442	U	2.966360	1	0.08975	N	1.15	0.29295	L	-2.69	0.90679	D	-1.31	0.33998	N	0.134	0.15888	-0.5997	0.64830	T	0.438	0.77739	T	10	0.05076924	0.04859	T	0.056809	0.66741	D	0.184	0.45763	.	.	0.547723574548	0.54429	0.31211286695778817	0.31124	0.0698313257838	0.07817	0.474643886089	0.35320	T	0.043667	0.26572	T	-0.36612	0.03795	T	-0.409649	0.32265	T	0.0207610295120357	0.00776	T	0.454055	0.12934	T	0.009733912	0.00004	0.02461318	0.00485	0.009733912	0.00004	0.02461318	0.00485	-5.361	0.40543	T	0.10902190478532366	0.09056	0.078	0.07083	B	.;.;.	.;.;.	-0.486493	0.01911	0.160	0.9575769915884137	0.27741	0.01149	0.04157	N	AEFBCI	0.062356	0.11981	N	-1.46086344635336	0.02133	0.09385224	-1.60123285351855	0.01648	0.07479524	0.999999989915858	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	3.85	-7.69	0.01124	-3.532000	0.00490	-5.949000	0.01543	-1.936000	0.00495	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.3376:0.1527:0.1063:0.4034	1.015	0.01411	645	0.63593	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001008	0.005051	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	2373.44	33	chr21	45476424	.	C	T	2373.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.174;DP=398;ExcessHet=0;FS=1.111;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-1.801;SOR=0.787	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	6	0	1	0
chr21	45516029	45516029	C	A	exonic	SLC19A1	.	nonsynonymous SNV	SLC19A1:NM_001205207:exon5:c.G1285T:p.A429S,SLC19A1:NM_001352510:exon6:c.G1051T:p.A351S,SLC19A1:NM_001352512:exon6:c.G1405T:p.A469S,SLC19A1:NM_194255:exon6:c.G1405T:p.A469S	.	406	1114	2	0	0	2	0.000896861	.	.	.	1493081	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.0321193237204	.	0.000199681	3.481e-05	0.0004	0	0	0	0	0	0	4.53e-05	7	154602	rs560827689	7.643e-05	7.73e-05	7.638e-05	7.648e-05	0.0009	6.473e-05	6.019e-05	0.0007	0.0006	0.0009	0.0003	0	0	0	0.0007	3.651e-05	0.0004	1.22e-05	0.0002	0.0002	0.0003	0.0002	0.0007	0.0002	0.0002	0.0005	0.0005	0.0007	0	0.0001	0	0	0	0.0068	1.47e-05	0.0005	0	0.23	0.20306	T	0.118	0.36233	T	0.851	0.46962	P	0.253	0.39112	B	0.000000	0.00162	N	451.977000	1	0.81001	D	1.65	0.42232	L	1.9	0.23486	T	-1.06	0.37178	N	0.061	0.15187	-1.0212	0.23324	T	0.054	0.22959	T	10	0.061697453	0.07774	T	0.032119	0.54029	D	0.075	0.21907	0.221	0.14371	0.311387274539	0.30754	0.2003151886825893	0.19948	0.135676566902	0.15297	0.399641990662	0.25019	T	0.052236	0.29105	T	-0.504845	0.00537	T	-0.565427	0.15870	T	0.0340638505801044	0.02648	T	0.40416	0.10358	T	0.104690075	0.24749	0.07985854	0.18014	0.104690075	0.24749	0.07985854	0.18013	-4.246	0.27484	T	.	.	0.083	0.09288	B	.;.	.;.	0.899034	0.12729	9.249	0.99383546886377716	0.61979	0.86669	0.45999	D	AEFBCI	0.387055	0.46718	N	-0.0486495357496316	0.39664	2.342641	-0.0252224818274314	0.38579	2.274968	0.999095615804729	0.38425	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.636168	0.56350	0	.	.	4.32	4.32	0.50899	0.320000	0.19288	0.371000	0.17677	0.544000	0.25403	0.000000	0.06391	0.036000	0.21445	0.006000	0.07323	0.0:1.0:0.0:0.0	12.729	0.56560	580	0.69689	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002037	0.000000	0.004098	0.002941	0.000000	0.000000	0.000000	0.000000	0.07143	778.46	34	chr21	45516029	.	C	A	778.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.594;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.457;SOR=0.572	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1202	6	0	1	0
chr21	46132277	46132277	G	A	exonic	COL6A2	.	nonsynonymous SNV	COL6A2:NM_001849:exon28:c.G2785A:p.V929M	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1514	8	0	0	8	0.00263505	.	.	YES	269955	Bethlem_myopathy_1A|not_provided|Collagen_6-related_myopathy|Ullrich_congenital_muscular_dystrophy_1A	MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MedGen:C3661900|MONDO:MONDO:0100225,MedGen:CN117976|MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.473	0.251040784075	0.0002	0.000199681	0.0002	0	0.0001	0	0	0.0002	0	0.0004	0.0001552	24	154602	rs145527336	0.0002	0.0002	0.0002	0.0002	0.0036	0.0001	0.0001	0.0024	0.0021	0.0001	0.0003	0	0	0	0.0036	0.0001	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	9.696e-05	0.0002	0.0002	4.813e-05	0	0.0001	0	0	0	0	0.0003	0	0.0002	0.081	0.33418	T	0.123	0.35582	T	1.0	0.90584	D	0.988	0.77976	D	0.015856	0.28136	U	0.313934	0.999999	0.58761	D	2.32	0.66415	M	-1.16	0.78082	T	-0.41	0.14000	N	0.634	0.64733	0.061	0.83442	D	0.569	0.84381	D	10	0.5866204	0.66147	D	0.251041	0.89116	D	0.473	0.76619	.	.	0.846654732685	0.84518	0.778402159540574	0.77790	0.604138712811	0.55366	0.716341853142	0.69514	T	0.170631	0.51844	T	-0.0836815	0.39113	T	-0.0340358	0.68101	D	0.196997237944013	0.20249	T	0.784022	0.42156	T	0.06302385	0.13228	0.06363048	0.12633	0.06302385	0.13227	0.06363048	0.12633	-2.237	0.04224	T	0.4558369978791214	0.53885	0.484	0.63867	A	.	.	4.136798	0.61946	24.4	0.98036681249520852	0.37758	0.94361	0.60920	D	AEFDBCI	0.821846	0.74231	D	0.284783801192554	0.55377	3.701778	0.144463669919768	0.46849	2.924302	0.99999999989157	0.74766	0.718356	0.82227	0	0.547309	0.14657	0	0.570548	0.19454	0	0.567892	0.33627	0	.	.	4.18	4.18	0.48473	5.423000	0.66197	6.509000	0.55803	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	0.0:0.1695:0.8305:0.0	12.418	0.54839	982	0.03397	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.004087	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1706.45	59	chr21	46132277	.	G	A	1706.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.29;DP=387;ExcessHet=0;FS=0.715;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=2.73;SOR=0.591	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1247	6	0	1	0
chr21	46228743	46228743	C	T	exonic	LSS	.	nonsynonymous SNV	LSS:NM_001001438:exon1:c.G3A:p.M1I,LSS:NM_001145436:exon1:c.G3A:p.M1I,LSS:NM_002340:exon1:c.G3A:p.M1I	Cataract 44, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.272780864253	.	.	1.199e-05	0	0	0.0002	0	0	0	0	6.5e-06	1	154602	rs753714824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.627e-06	6.598e-06	1.295e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.018	0.50676	D	0.188	0.28958	T	0.043	0.21573	B	0.01	0.14941	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.63	0.12884	T	-0.87	0.25118	N	0.747	0.74644	-1.0231	0.22704	T	0.023	0.09787	T	9	0.97159815	0.96778	D	0.272781	0.89942	D	0.157	0.40909	0.999	0.99990	0.24896430686	0.24499	0.6525760799389821	0.65193	.	.	.	.	.	0.090693	0.38637	T	-0.130678	0.31386	T	-0.425486	0.30449	T	0.865239024162292	0.51536	D	0.9	0.65058	D	0.7674034	0.81892	0.5998309	0.76754	0.7674034	0.81893	0.5998309	0.76755	-9.91	0.73395	D	.	.	.	.	.	.;.;.	.;.;.	2.850495	0.37631	20.5	0.96688018183530511	0.30726	0.06353	0.12352	N	ALL	0.024823	0.01600	N	-0.75147119904606	0.14593	0.7282555	-0.816124201875836	0.14104	0.7352837	0.999999999997081	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.95	1.92	0.24912	1.234000	0.32262	2.121000	0.30720	0.516000	0.23499	0.003000	0.16062	0.016000	0.20520	0.120000	0.19168	0.2136:0.5794:0.2071:0.0	6.277	0.20193	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	19	chr21	46228743	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=165;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1199	6	1	0	0
chr21	46266123	46266123	A	C	exonic	MCM3AP	.	nonsynonymous SNV	MCM3AP:NM_003906:exon11:c.T2833G:p.L945V	.	419	1074	29	0	0	29	0.0133211	.	.	.	717271	MCM3AP-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.034	.	0.0047	0.00279553	0.0064	0.0008	0.0122	0	0.0089	0.0079	0.0188	0.0015	0.0059443	919	154602	rs144904756	0.0062	0.0062	0.0061	0.0063	0.0259	0.0061	0.0060	0.0225	0.0212	0.0014	0.0082	0.0256	0	0.0092	0.0259	0.0060	0.0079	0.0013	0.0049	0.0049	0.0048	0.0050	0.0057	0.0046	0.0045	0.0052	0.0050	0.0014	0	0.0053	0.0265	0	0.0094	0.0136	0.0057	0.0090	0.0006	0.357	0.12032	T	0.095	0.39492	T	0.146	0.27821	B	0.09	0.29851	B	0.001426	0.39044	N	0.219769	1	0.08975	N	1.905	0.50856	L	3.8	0.03781	T	-0.6	0.17834	N	0.442	0.48780	-1.0162	0.24948	T	0.010	0.03673	T	10	0.003976971	0.00077	T	.	.	.	0.034	0.08419	.	.	0.240615537116	0.23683	0.23897188706661074	0.23811	0.241407247156	0.26664	0.35556179285	0.18738	T	0.089058	0.38292	T	-0.672393	0.00053	T	-0.733917	0.04152	T	0.00493454904149325	0.00053	T	0.715328	0.32778	T	0.02376417	0.01144	0.034527432	0.02536	0.031549335	0.03014	0.034527432	0.02535	-5.563	0.42453	T	.	.	0.081	0.08081	B	.;.	.;.	0.158927	0.05500	1.963	0.68637270778372683	0.08720	0.29821	0.23922	N	AEFDBCI	0.106285	0.21211	N	-1.07576092996927	0.07092	0.3284427	-1.17687587523784	0.06297	0.3027039	0.742497390098923	0.23234	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.67	-3.91	0.03892	0.808000	0.26813	0.308000	0.17052	-0.208000	0.08445	0.158000	0.23769	0.000000	0.08366	0.438000	0.27627	0.412:0.1217:0.4664:0.0	8.573	0.32744	952	0.10565	Proteasome component (PCI) domain;Proteasome component (PCI) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.022155	0.010101	0.031250	0.023392	0.000000	0.025862	0.018293	0.007576	0.1429	1046.24	41	chr21	46266123	.	A	C	1046.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0;DP=302;ExcessHet=0.3476;FS=2.502;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=1.99;SOR=0.457	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	5	0	2	0
chr21	46416534	46416534	A	G	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon30:c.A6262G:p.T2088A,PCNT:NM_006031:exon30:c.A6616G:p.T2206A	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	169685	Microcephalic_osteodysplastic_primordial_dwarfism_type_II|not_specified|not_provided	MONDO:MONDO:0008872,MedGen:C0432246,OMIM:210720,Orphanet:2637|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.044	.	0.0092	0.00998403	0.0025	0.0289	0.0012	0	0	0	0	6.061e-05	0.0025161	389	154602	rs9981448	0.0008	0.0008	0.0009	0.0007	0.0271	0.0007	0.0007	0.0256	0.0251	0.0271	0.0018	0	0	0	0.0009	1.799e-05	0.0018	5.797e-05	0.0078	0.0078	0.0084	0.0072	0.0270	0.0074	0.0073	0.0257	0.0252	0.0270	0	0.0031	0	0	0	0	8.821e-05	0.0057	0	0.794	0.03167	T	0.967	0.02503	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.72	0.01791	N	4.96	0.01366	T	-0.09	0.08340	N	0.026	0.00527	-0.9112	0.46707	T	0.001	0.00222	T	9	0.0027277768	0.00042	T	.	.	.	0.044	0.11924	.	.	0.231873229951	0.22792	0.140261456309479	0.13949	0.0791875301979	0.08910	0.22380104661	0.01541	T	0.019938	0.15791	T	-0.785061	0.00010	T	-0.87815	0.00670	T	0.00295473884415086	0.00031	T	0.230977	0.03126	T	0.014960776	0.00116	0.019385472	0.00087	0.014960776	0.00115	0.019385472	0.00087	-2.988	0.10052	T	.	.	0.064	0.01645	B	.	.	-1.517077	0.00284	0.005	0.24758091356894657	0.01110	0.01243	0.04382	N	AEFDBCI	0.012073	0.00122	N	-2.00387713705645	0.00208	0.008894735	-2.06667194091944	0.00220	0.00969789	0.999958394116742	0.48110	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.82	-9.64	0.00453	-3.418000	0.00531	-0.499000	0.08813	-1.000000	0.01814	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4217:0.165:0.1831:0.2301	0.650	0.00772	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.015152	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	2427.44	41	chr21	46416534	.	A	G	2427.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.667;DP=493;ExcessHet=0;FS=3.682;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=0.728;SOR=0.491	GT:AD:DP:GQ:PL	0/0:71,0:71:99:0,120,1800	6	0	1	0
chr22	15690401	15690401	C	G	exonic	POTEH	.	nonsynonymous SNV	POTEH:NM_001136213:exon1:c.C324G:p.C108W	.	457	1026	36	2	1	41	0.0191205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202187764	0.0033	0.0074	0.0029	0.0037	0.0183	0.0032	0.0032	0.0171	0.0167	0.0011	0.0050	0.0038	0.0183	0.0040	0.0023	0.0019	0.0042	0.0138	0.0013	0.0045	0.0010	0.0016	0.0057	0.0011	0.0010	0.0036	0.0030	0.0004	0	0.0014	0.0008	0.0050	0.0046	0	0.0008	0.0013	0.0057	0.135	0.26192	T	0.081	0.41742	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.2	0.37405	T	-1.44	0.35399	N	0.357	0.39861	.	.	.	.	.	.	.	0.045320213	0.03589	T	.	.	.	.	.	.	.	.	.	0.7988924948495643	0.79842	.	.	.	.	.	0.012318	0.10847	T	.	.	.	.	.	.	.	.	.	0.491551	0.15120	T	.	.	.	.	.	.	.	.	-2.632	0.06750	T	.	.	0.132	0.28377	B	.	.	0.989631	0.13675	10.21	.	.	.	.	.	.	0.081464	0.16484	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.401000	0.07293	.	.	-1.191000	0.01374	0.016000	0.19238	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	475.21	37	chr22	15690401	.	C	G	475.21	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.8;DP=282;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=41.4;MQRankSum=0.117;QD=31.68;ReadPosRankSum=-1.044;SOR=1.179	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	6	1	0	0
chr22	16966244	16966244	C	T	exonic	GAB4	.	nonsynonymous SNV	GAB4:NM_001366857:exon4:c.G685A:p.V229I,GAB4:NM_001037814:exon6:c.G1144A:p.V382I	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00189560681487	.	.	8.298e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs777440566	1.368e-06	1.368e-06	0	2.75e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.16358	T	0.43	0.13713	T	0.141	0.27581	B	0.019	0.18783	B	0.010065	0.30079	N	0.346228	0.999081	0.21640	N	1.67	0.42885	L	2.31	0.16794	T	-0.32	0.12283	N	0.091	0.06990	-1.0099	0.26949	T	0.024	0.10058	T	10	0.20420164	0.36603	T	0.001896	0.03325	T	0.021	0.04004	0.39	0.41279	0.448000600372	0.44423	0.04008620061648514	0.03954	0.0283905594338	0.02914	0.333892077208	0.15521	T	0.00215	0.01556	T	-0.382026	0.03025	T	-0.689676	0.06407	T	0.0767261078144613	0.09563	T	0.294271	0.05429	T	0.020769233	0.00649	0.024109995	0.00427	0.020769233	0.00648	0.024109995	0.00427	-4.146	0.25966	T	.	.	0.086	0.10497	B	.;.	.;.	1.260699	0.16584	12.63	0.92662570904413866	0.22143	0.58828	0.30748	D	AEFDBI	0.117519	0.23018	N	-0.514090158956886	0.21623	1.148939	-0.460560088733037	0.23249	1.266931	2.53565979742716E-4	0.06190	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.96	1.75	0.23707	2.085000	0.41258	1.743000	0.28415	-0.640000	0.04453	0.997000	0.40164	0.923000	0.28366	0.003000	0.05239	0.0:0.7741:0.2259:0.0	9.210	0.36470	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	884.49	38	chr22	16966244	.	C	T	884.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.021;DP=277;ExcessHet=0;FS=1.619;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=0.184;SOR=0.877	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1148	6	0	1	0
chr22	17085111	17085111	C	T	exonic	IL17RA	.	nonsynonymous SNV	IL17RA:NM_001289905:exon1:c.C20T:p.P7L,IL17RA:NM_014339:exon1:c.C20T:p.P7L	Immunodeficiency 51, Autosomal recessive	9	1497	15	1	0	17	0.00564596	.	.	.	337275	Familial_Candidiasis,_Recessive|IL17RA-related_disorder|not_provided|Immunodeficiency_51	MedGen:CN239217|.|MedGen:C3661900|MONDO:MONDO:0013500,MedGen:C4310803,OMIM:613953,Orphanet:1334	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.007	.	.	0.000998403	0.0101	0	0.1	0	.	0.0096	0	0.0093	0.0012742	197	154602	rs143652002	0.0062	0.0056	0.0062	0.0061	0.0070	0.0061	0.0060	0.0069	0.0069	0.0007	0.0037	0.0013	0	0.0018	0.0043	0.0070	0.0045	0.0025	0.0038	0.0038	0.0040	0.0036	0.0061	0.0035	0.0034	0.0056	0.0054	0.0010	0.0132	0.0048	0.0017	0.0002	0.0008	0.0034	0.0061	0.0052	0.0017	0.682	0.04404	T	0.767	0.04555	T	0.273	0.31830	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	3.5	0.05014	T	-0.06	0.07882	N	0.076	0.07811	-0.9411	0.42442	T	0.007	0.02558	T	9	0.0030026138	0.00049	T	.	.	.	0.007	0.00512	.	.	0.119812018005	0.11559	0.46248366720885065	0.46166	0.194208701575	0.21755	0.684590578079	0.64928	T	0.059973	0.31260	T	-0.649737	0.00073	T	-0.698545	0.05906	T	0.00580034769711307	0.00063	T	0.585041	0.21304	T	0.021738866	0.00792	0.04205848	0.04922	0.026000118	0.01602	0.050834775	0.08059	-4.004	0.24861	T	.	.	0.126	0.28863	B	.;.	.;.	0.535400	0.09040	5.823	0.79814070094754175	0.12913	0.13521	0.17903	N	ALL	0.022963	0.01216	N	-1.19850937032097	0.05022	0.2280187	-1.27014917068788	0.04840	0.2292478	0.999999966870353	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.372554	0.06265	0	.	.	3.48	-0.0922	0.12993	-0.029000	0.12278	-0.336000	0.09852	-0.556000	0.04876	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4087:0.4013:0.19	6.391	0.20790	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002915	0.000000	0.007042	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	649.63	21	chr22	17085111	.	C	T	649.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.93;DP=218;ExcessHet=0;FS=1.117;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-1.182;SOR=0.606	GT:AD:DP:GQ:PL	0/1:20,29:49:99:660,0,434	6	0	1	0
chr22	17119423	17119423	C	T	exonic	TMEM121B	.	nonsynonymous SNV	TMEM121B:NM_031890:exon1:c.G1705A:p.V569I,TMEM121B:NM_001163079:exon2:c.G640A:p.V214I	.	429	1061	32	0	0	32	0.0148561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	0.0022	0.00758786	0.0108	0.0005	0.0036	0.0101	0.0067	0.0077	0.0091	0.0319	0.0062483	966	154602	rs149370082	0.0049	0.0049	0.0042	0.0056	0.0258	0.0048	0.0048	0.0249	0.0245	0.0007	0.0022	0.0032	0.0148	0.0033	0.0185	0.0032	0.0059	0.0258	0.0037	0.0037	0.0033	0.0041	0.0216	0.0035	0.0034	0.0182	0.0169	0.0006	0	0.0034	0.0029	0.0068	0.0041	0.0272	0.0040	0.0099	0.0216	0.02	0.49613	D	0.06	0.63918	T	0.911	0.50336	P	0.562	0.49608	P	0.001714	0.38216	U	0.102509	0.999895	0.50595	D	.	.	.	.	.	.	-0.85	0.23156	N	0.35	0.39153	-0.8482	0.52093	T	0.112	0.40168	T	9	0.008572459	0.00194	T	.	.	.	0.119	0.33137	.	.	0.104622674875	0.10061	0.7604217329728664	0.75990	.	.	0.522731900215	0.42011	T	0.047421	0.27718	T	-0.327575	0.06297	T	-0.223718	0.52378	T	0.0359863368657486	0.02978	T	0.79582	0.43907	T	0.12873021	0.30087	0.100857474	0.24128	0.12873021	0.30087	0.100857474	0.24127	-3.944	0.28872	T	.	.	0.166	0.44872	B	.;.	.;.	3.672644	0.52235	23.2	0.9957284842646853	0.72501	0.86897	0.46282	D	AEFBCI	0.761208	0.69899	D	0.372332812103338	0.59927	4.17648	0.397399947182225	0.61403	4.340084	0.999999999999899	0.74766	0.656854	0.48797	0	0.588066	0.40923	0	0.67347	0.61138	0	0.620976	0.48614	0	.	.	4.26	4.26	0.49832	5.151000	0.64720	5.885000	0.50690	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.790000	0.37311	0.0:1.0:0.0:0.0	16.210	0.81968	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017120	0.015152	0.012228	0.017544	0.000000	0.025862	0.015244	0.018939	0.07143	1048.53	33	chr22	17119423	.	C	T	1048.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.25;DP=274;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-0.286;SOR=0.698	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1135	6	0	1	0
chr22	17209580	17209580	G	A	exonic	ADA2	.	nonsynonymous SNV	ADA2:NM_001282225:exon2:c.C98T:p.T33I,ADA2:NM_001282226:exon2:c.C98T:p.T33I	Polyarteritis nodosa, childhood-onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	2109789	Vasculitis_due_to_ADA2_deficiency	MONDO:MONDO:0014306,MedGen:C3887654,OMIM:615688,Orphanet:404553	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.168	0.00272382088347	.	.	8.256e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs780192478	8.893e-06	8.893e-06	1.089e-05	6.875e-06	1.169e-05	4.96e-06	3.82e-06	6.52e-06	5.03e-06	0	0	0	0	0	0	1.169e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.23360	T	0.187	0.38742	T	0.04	0.21238	B	0.025	0.20508	B	0.381835	0.13378	N	0.727716	1	0.08975	N	.	.	.	0.9	0.45248	T	-0.9	0.34397	N	0.135	0.13198	-1.0482	0.14903	T	0.045	0.19152	T	10	0.16914842	0.31505	T	0.002724	0.05608	T	0.168	0.42943	0.432	0.48171	0.0551355673512	0.04727	0.5834641053717693	0.58275	0.0482128920578	0.05268	0.351100385189	0.18084	T	0.170318	0.67105	T	-0.278996	0.10773	T	-0.623049	0.10948	T	0.066511407363814	0.08153	T	0.418758	0.11073	T	0.085095465	0.19724	0.07478601	0.16396	0.085095465	0.19724	0.07478601	0.16396	-4.666	0.32990	T	.	.	0.113	0.22135	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.097466	0.03657	0.732	0.88280900559393383	0.17854	0.03626	0.08868	N	AEFBI	0.081732	0.16542	N	-1.40801493919315	0.02567	0.1135605	-1.52976464367831	0.02118	0.09694394	0.996260102411972	0.34630	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	4.66	-8.15	0.00937	-0.627000	0.05618	-1.237000	0.05943	-0.224000	0.07868	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3308:0.201:0.1663:0.3018	0.103	0.00046	994	0.00715	Adenosine/AMP deaminase N-terminal;Adenosine/AMP deaminase N-terminal;Adenosine/AMP deaminase N-terminal;Adenosine/AMP deaminase N-terminal;Adenosine/AMP deaminase N-terminal;Adenosine/AMP deaminase N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	368.53	34	chr22	17209580	.	G	A	368.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.649;DP=241;ExcessHet=0;FS=2.87;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=1.62;SOR=0.339	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	6	0	1	0
chr22	17209656	17209656	C	T	exonic	ADA2	.	nonsynonymous SNV	ADA2:NM_001282225:exon2:c.G22A:p.E8K,ADA2:NM_001282226:exon2:c.G22A:p.E8K	Polyarteritis nodosa, childhood-onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1477371	Vasculitis_due_to_ADA2_deficiency|not_provided	MONDO:MONDO:0014306,MedGen:C3887654,OMIM:615688,Orphanet:404553|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.157	0.00498876477915	.	.	.	.	.	.	.	.	.	.	.	.	.	rs914839065	1.369e-05	1.368e-05	1.771e-05	9.635e-06	1.529e-05	8.94e-06	7.27e-06	9.32e-06	7.62e-06	0	0	0	0	0	0	1.529e-05	4.971e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.844	0.03354	T	0.513	0.19246	T	0.0	0.02946	B	0.0	0.01387	B	0.112492	0.02652	N	1.808160	1	0.08975	N	.	.	.	0.98	0.42122	T	-0.12	0.08809	N	0.079	0.07262	-1.0615	0.11385	T	0.050	0.21182	T	10	0.072144836	0.10731	T	0.004989	0.12598	T	0.157	0.40909	0.4	0.42917	0.110078149338	0.10416	0.7070146041545062	0.70643	0.0484411646669	0.05293	0.367300450802	0.20443	T	0.002657	0.04396	T	-0.174779	0.24514	T	-0.488835	0.23513	T	0.0252435365580537	0.01304	T	0.59464	0.22635	T	0.06673002	0.14386	0.05820858	0.10716	0.06673002	0.14386	0.05820858	0.10716	-2.41	0.05195	T	.	.	0.086	0.10835	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.024167	0.04450	1.175	0.79765432046918938	0.12890	0.01761	0.05536	N	AEFBI	.	.	.	-1.13140585890592	0.06091	0.2794855	-1.13125270224756	0.07109	0.3445891	0.0573688780405228	0.15090	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	4.37	-0.575	0.11146	0.706000	0.25365	-0.607000	0.08241	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.043000	0.14563	0.0:0.4141:0.193:0.3929	3.551	0.07400	994	0.00715	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	583.83	25	chr22	17209656	.	C	T	583.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.067;DP=207;ExcessHet=0;FS=4.546;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=0.816;SOR=0.25	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	6	0	1	0
chr22	17548982	17548982	C	G	exonic	CECR2	.	nonsynonymous SNV	CECR2:NM_001290046:exon17:c.C3203G:p.P1068R,CECR2:NM_001290047:exon17:c.C3695G:p.P1232R	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	0.0003	0.000998403	0.0020	0	0.0004	0.0001	0.0103	0.0022	0.0033	0.0008	0.0016494	255	154602	rs199780601	0.0011	0.0011	0.0011	0.0012	0.0010	0.0011	0.0011	0.0009	0.0008	0	0.0003	0.0049	5.038e-05	0.0112	0.0009	0.0007	0.0015	0.0010	0.0015	0.0015	0.0011	0.0019	0.0019	0.0013	0.0013	0.0014	0.0012	7.218e-05	0	0.0019	0.0055	0.0002	0.0090	0	0.0010	0.0014	0.0015	0.004	0.65419	D	0.017	0.63918	D	0.868	0.47740	P	0.307	0.44011	B	0.204261	0.16523	N	0.448371	1	0.08975	N	2.125	0.59049	M	1.88	0.23884	T	-1.9	0.44284	N	0.323	0.36359	-1.0484	0.14846	T	0.057	0.23904	T	10	0.0062797666	0.00142	T	.	.	.	0.049	0.13647	.	.	0.352693368174	0.34879	0.14303907396072826	0.14226	.	.	0.360431581736	0.19449	T	0.151677	0.49172	T	-0.459435	0.00991	T	-0.438581	0.28968	T	0.0421931488274367	0.04090	T	0.682032	0.29067	T	0.024358504	0.01259	0.035830993	0.02910	0.024358504	0.01259	0.035830993	0.02909	-5.087	0.37769	T	.	.	0.113	0.22171	B	.;.;.;.	.;.;.;.	0.932516	0.13078	9.581	0.98867114215146401	0.47580	0.19587	0.20718	N	AEFBI	0.073493	0.14702	N	-0.454702663887323	0.23581	1.267324	-0.655094098771247	0.18087	0.9647452	0.0568446069908384	0.15070	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.620846	0.47308	0	.	.	4.18	0.659	0.17033	1.081000	0.30402	1.220000	0.24969	0.599000	0.40250	0.005000	0.17040	0.017000	0.20586	0.001000	0.02609	0.3029:0.4808:0.0:0.2164	4.099	0.09480	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1465.49	136	chr22	17548982	.	C	G	1465.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.693;DP=343;ExcessHet=0;FS=2.187;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-1.185;SOR=0.527	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr22	17689010	17689010	G	A	exonic	BCL2L13	.	nonsynonymous SNV	BCL2L13:NM_001270726:exon3:c.G326A:p.R109H,BCL2L13:NM_001270727:exon3:c.G326A:p.R109H,BCL2L13:NM_001270734:exon4:c.G254A:p.R85H,BCL2L13:NM_001363824:exon4:c.G254A:p.R85H,BCL2L13:NM_015367:exon4:c.G254A:p.R85H	.	424	1075	22	1	0	24	0.0110396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0058	0.00638978	0.0085	0.0012	0.0089	0.0001	0.0156	0.0104	0.0088	0.0065	0.00804	1243	154602	rs61741787	0.0088	0.0088	0.0089	0.0087	0.0260	0.0087	0.0086	0.0226	0.0213	0.0019	0.0099	0.0088	5.039e-05	0.0162	0.0260	0.0089	0.0105	0.0069	0.0072	0.0072	0.0068	0.0076	0.0109	0.0068	0.0067	0.0095	0.0090	0.0016	0	0.0109	0.0084	0.0004	0.0195	0.0306	0.0084	0.0076	0.0064	0.135	0.27663	T	0.144	0.33442	T	0.945	0.73220	P	0.481	0.57283	P	0.045303	0.23550	N	0.491473	1	0.81001	D	1.79	0.46772	L	3.56	0.04696	T	-0.96	0.46673	N	0.417	0.47022	-0.7933	0.55537	T	0.011	0.03949	T	10	0.008024782	0.00182	T	.	.	.	0.059	0.16972	.	.	0.241664281697	0.23763	0.24012876412980433	0.23926	0.151046914989	0.17050	0.245401352644	0.03299	T	0.016618	0.27242	T	-0.51851	0.00449	T	-0.510046	0.21310	T	0.0205169027326303	0.00751	T	0.915608	0.72990	D	0.04604829	0.07641	0.029454181	0.01286	0.04604829	0.07640	0.029454181	0.01286	-3.107	0.11586	T	.	.	0.184	0.39815	B	.;.;.;.;.;.	.;.;.;.;.;.	2.806007	0.36928	20.4	0.99895227752262639	0.96819	0.94183	0.60365	D	AEFBI	0.638655	0.61700	D	0.168550375348562	0.49691	3.166844	0.254502007397856	0.52906	3.462375	0.999858228876689	0.44174	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.58	4.57	0.55860	4.727000	0.61687	4.276000	0.42864	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0721:0.0:0.7848:0.143	9.374	0.37433	982	0.03397	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.010101	0.017663	0.014620	0.000000	0.008621	0.024390	0.015152	0.07143	484.49	37	chr22	17689010	.	G	A	484.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.991;DP=194;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=0.387;SOR=0.521	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1073	6	0	1	0
chr22	17875530	17875530	A	T	exonic	MICAL3	.	nonsynonymous SNV	MICAL3:NM_001136004:exon18:c.T2422A:p.F808I	.	393	1125	4	0	0	4	0.00177462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.0500050554271	.	.	4.513e-05	0	0	0	0	0.0001	0	0	2.59e-05	4	154602	rs766532706	6.066e-05	6.02e-05	6.063e-05	6.069e-05	0.0019	5.017e-05	4.622e-05	0.0011	0.0008	0	0.0001	0	0	0	0.0019	5.55e-05	0.0002	1.262e-05	7.231e-05	7.223e-05	8.997e-05	5.383e-05	0.0002	3.973e-05	3.129e-05	5.291e-05	2.836e-05	2.415e-05	0	0.0002	0	0	0	0	8.82e-05	0	0.0002	.	.	.	0.396	0.15206	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.31	0.68030	T	.	.	.	0.428	0.46742	-0.8013	0.55068	T	0.195	0.54942	T	8	0.18250015	0.33532	T	0.050005	0.64057	D	.	.	.	.	0.117191471859	0.11215	.	.	.	.	.	.	.	.	.	.	-0.163433	0.26234	T	-0.224228	0.52328	T	0.138190640564977	0.16118	T	0.670833	0.27951	T	.	.	.	.	.	.	.	.	-3.454	0.15794	T	.	.	0.142	0.31203	B	.	.	3.731482	0.53380	23.4	0.97608632989559496	0.34893	0.98075	0.79386	D	AEFDBI	0.837368	0.75501	D	0.161210841725064	0.49343	3.135866	0.324472373817327	0.56982	3.862523	0.999995134129736	0.74766	0.582742	0.33608	0	0.546412	0.12157	0	0.61531	0.40942	0	0.714379	0.83352	0	.	.	5.83	5.83	0.93059	7.130000	0.76842	11.150000	0.87324	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.188	0.81784	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000509	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	687.63	48	chr22	17875530	.	A	T	687.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.16;DP=224;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=2.22;SOR=0.62	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,100,1146	6	0	1	0
chr22	18085172	18085172	C	T	exonic	PEX26	.	nonsynonymous SNV	PEX26:NM_001127649:exon4:c.C728T:p.A243V,PEX26:NM_017929:exon5:c.C728T:p.A243V	Peroxisome biogenesis disorder 7A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 7B, Autosomal recessive	0	1485	36	1	0	38	0.012633	.	.	.	101776	not_provided|not_specified|Peroxisome_biogenesis_disorder_7A_(Zellweger)|Peroxisome_biogenesis_disorder_7B	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013938,MedGen:C3888385,OMIM:614872,Orphanet:912|MONDO:MONDO:0013939,MedGen:C3553951,OMIM:614873,Orphanet:44	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.197	0.0474069941573	0.0013	0.000599042	0.0025	0.0005	0.0049	0	0	0.0027	0.0055	0.0031	0.002238	346	154602	rs149153003	0.0020	0.0020	0.0019	0.0021	0.0078	0.0019	0.0019	0.0060	0.0054	0.0003	0.0028	0.0143	5.038e-05	1.872e-05	0.0078	0.0017	0.0036	0.0037	0.0015	0.0015	0.0015	0.0016	0.0027	0.0014	0.0013	0.0016	0.0015	0.0002	0	0.0010	0.0161	0	0	0.0170	0.0019	0.0024	0.0027	1.0	0.00964	T	0.892	0.03117	T	0.037	0.20876	B	0.008	0.13708	B	0.807127	0.06805	N	1.130330	1	0.08975	N	1.445	0.36358	L	-3.31	0.93835	D	0.39	0.03521	N	0.169	0.17966	-0.4963	0.68783	T	0.459	0.78970	T	10	0.0070671737	0.00161	T	0.047407	0.62906	D	0.197	0.47942	.	.	0.713262185059	0.71075	0.18857996755709533	0.18775	0.169790244603	0.19148	0.245509326458	0.03309	T	0.160927	0.50497	T	-0.343929	0.05120	T	-0.26828	0.47994	T	0.0011585195957036	0.00011	T	0.680032	0.28847	T	0.013598841	0.00064	0.029807605	0.01360	0.01283413	0.00043	0.033644404	0.02294	-3.795	0.20730	T	0.18329792778732906	0.23723	0.085	0.10256	B	.;.	.;.	1.406946	0.18215	13.61	0.90691769302167446	0.19942	0.02475	0.06940	N	AEFDBI	0.039902	0.05861	N	-1.08820130963749	0.06860	0.3169854	-1.0370179735868	0.08979	0.4442657	0.99972819727319	0.42220	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.77	-1.98	0.07070	0.506000	0.22367	-0.028000	0.12833	0.599000	0.40250	0.005000	0.17040	0.000000	0.08366	0.425000	0.27339	0.0:0.3426:0.1547:0.5026	5.148	0.14322	835	0.38313	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.000000	0.010870	0.002924	0.000000	0.017241	0.003049	0.007576	0.07143	658.63	34	chr22	18085172	.	C	T	658.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.51;DP=236;ExcessHet=0;FS=0.983;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=-0.739;SOR=0.926	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1221	6	0	1	0
chr22	18161890	18161890	C	T	exonic	USP18	.	nonsynonymous SNV	USP18:NM_017414:exon4:c.C355T:p.R119W	.	.	.	.	.	.	.	.	.	.	.	2271252	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.065	0.0157702579602	.	.	4.154e-05	9.75e-05	0	0	0	0	0	0.0002	9.06e-05	14	154602	rs187908474	4.173e-05	4.446e-05	3.676e-05	4.676e-05	0.0002	3.311e-05	3.001e-05	0.0001	9.451e-05	0.0002	0.0001	0	0	0	0	3.058e-05	0	0.0002	7.889e-05	8.537e-05	7.711e-05	8.075e-05	0.0003	4.499e-05	3.514e-05	0.0001	0.0001	0.0003	0	0	0	0	0	0	0	0	0.0002	0.189	0.21224	T	0.211	0.26631	T	0.005	0.12996	B	0.007	0.12992	B	0.898825	0.08635	N	0.954809	1	0.08975	N	.	.	.	1.48	0.31731	T	-1.12	0.28906	N	0.337	0.37820	-1.0461	0.15505	T	0.032	0.13898	T	10	0.21742123	0.38353	T	0.01577	0.36685	T	0.065	0.18881	.	.	0.376570364461	0.37271	0.3028083435833438	0.30193	0.469182032742	0.46230	0.256836593151	0.04521	T	0.133305	0.46391	T	-0.448349	0.01155	T	-0.58965	0.13696	T	0.0284811891615391	0.01759	T	0.383762	0.09387	T	0.054126278	0.10343	0.0546777	0.09451	0.054126278	0.10343	0.0546777	0.09450	-4.445	0.30162	T	.	.	0.083	0.09094	B	.	.	2.557631	0.33119	19.24	0.98253139130436684	0.39594	0.02008	0.06044	N	AEFDI	0.121236	0.23580	N	-0.599885815957313	0.18949	0.9878882	-0.497257929843072	0.22230	1.206377	0.00787671573927491	0.11563	0.732398	0.92422	0	0.643519	0.57511	0	0.675528	0.61593	0	0.727631	0.95156	0	.	.	5.57	3.08	0.34576	0.232000	0.17670	0.191000	0.15744	0.573000	0.29008	0.002000	0.15269	0.006000	0.19429	0.253000	0.23340	0.1968:0.6997:0.0:0.1034	6.688	0.22342	793	0.45818	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	434.45	33	chr22	18161890	.	C	T	434.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.604;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=57.76;MQRankSum=2.1;QD=11.43;ReadPosRankSum=-1.542;SOR=0.639	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	6	0	1	0
chr22	18607962	18607962	G	A	exonic	RIMBP3	.	nonsynonymous SNV	RIMBP3:NM_015672:exon1:c.C3473T:p.T1158M	.	497	1020	5	0	0	5	0.00244499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000928264454427	0.0006	.	0.0014	0	0.0003	0.0064	0.0011	0.0014	0	0.0007	4.53e-05	7	154602	rs201506791	0.0007	0.0012	0.0006	0.0007	0.0017	0.0006	0.0006	0.0013	0.0012	0.0003	2.247e-05	0.0007	0.0017	0.0009	0.0002	0.0007	0.0007	0.0003	0.0006	0.0011	0.0006	0.0005	0.0019	0.0005	0.0004	0.0010	0.0008	0.0001	0	0.0005	0.0006	0.0019	0.0007	0	0.0008	0.0005	0.0002	.	.	.	0.281	0.21612	T	.	.	.	.	.	.	0.925030	0.08460	N	0.962179	1	0.08975	N	0.145	0.08828	N	.	.	.	.	.	.	0.044	0.01658	-1.0172	0.24625	T	0.019	0.07846	T	10	0.0054496825	0.00120	T	9.28E-4	0.00911	T	.	.	.	.	0.0297737177859	0.01360	0.3324131344491158	0.33154	.	.	0.369780004025	0.20800	T	8.79E-4	0.00441	T	-0.712885	0.00031	T	-0.797625	0.01963	T	0.00158873558637416	0.00016	T	0.336666	0.07200	T	0.009456448	0.00002	0.025103264	0.00544	0.009456448	0.00002	0.025103264	0.00544	-4.83	0.34939	T	.	.	0.069	0.02960	B	.	.	-0.606033	0.01555	0.102	0.90404575581100577	0.19666	0.01311	0.04542	N	AEFBI	0.057088	0.10607	N	-1.38290293845297	0.02798	0.1240805	-1.38706317410882	0.03389	0.1579858	8.14919401000295E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.42	-3.78	0.04049	-0.057000	0.11726	-0.970000	0.06749	-0.629000	0.04519	0.000000	0.06391	0.000000	0.08366	0.417000	0.27162	0.3832:0.1664:0.2828:0.1676	0.664	0.00794	866	0.32446	Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000577	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004098	0.07143	33.44	33	chr22	18607962	.	G	A	33.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.662;DP=563;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=38.23;MQRankSum=-2.458;QD=0.09;ReadPosRankSum=1.14;SOR=0.668	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1318	6	0	1	0
chr22	18922842	18922842	G	T	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon6:c.C500A:p.T167N,LOC102724788:NM_001368249:exon6:c.C824A:p.T275N,LOC102724788:NM_001368250:exon6:c.C500A:p.T167N,PRODH:NM_016335:exon6:c.C824A:p.T275N	.	1	1438	83	0	0	83	0.02805	.	.	.	1159078	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.021	.	0.0333	0.0720847	0.0579	0.0104	0.1609	0.1818	0.0085	0.0437	0.0444	0.0283	0.0576771	8917	154602	rs5747933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.604	0.07354	T	0.544	0.14961	T	0.372	0.34134	B	0.175	0.35598	B	0.065048	0.21909	N	0.496209	1	0.08975	P	.	.	.	1.43	0.32958	T	-0.27	0.12847	N	0.189	0.22998	-1.0145	0.25497	T	0.000	0.00039	T	9	0.0017009974	0.00021	T	.	.	.	0.021	0.04004	.	.	.	.	0.4946535748930686	0.49386	0.331359197874	0.35213	0.406710684299	0.26002	T	0.011657	0.16015	T	-0.651722	0.00071	T	-0.56511	0.15900	T	0.00372201777991252	0.00039	T	0.756224	0.37950	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.38444	B	.;.;.;.;.	.;.;.;.;.	0.135227	0.05303	1.794	0.91944369770692291	0.21271	0.02689	0.07326	N	AEFBI	0.081638	0.16523	N	-0.749487469426016	0.14647	0.731409	-0.754882130175184	0.15603	0.821413	0.792135918401755	0.24033	0.67177	0.52595	0	0.610034	0.51514	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	4.18	0.756	0.17569	-0.000000	0.12910	-0.138000	0.11547	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.093000	0.17941	0.3838:0.0:0.6162:0.0	6.269	0.20150	929	0.16858	Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.032226	0.035354	0.036685	0.026316	0.000000	0.025862	0.024390	0.030303	0.08333	589.27	90	chr22	18922842	.	G	T	589.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.36;DP=320;ExcessHet=0;FS=1.812;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=6.55;ReadPosRankSum=-1.906;SOR=0.46	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	5	0	1	1
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R,LOC102724788:NM_001368249:exon4:c.T553C:p.W185R,LOC102724788:NM_001368250:exon4:c.T229C:p.W77R,PRODH:NM_016335:exon4:c.T553C:p.W185R	.	0	170	630	722	0	2074	0.859155	.	.	.	1159081	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.686304	0.752525	0.689373	0.602339	0.700000	0.612069	0.704268	0.655303	0.75	15434.7	140	chr22	18925165	.	A	G	15434.7	.	AC=9;AF=0.75;AN=12;BaseQRankSum=-0.473;DP=843;ExcessHet=1.383;FS=0;MLEAC=10;MLEAF=0.833;MQ=60;MQRankSum=0;QD=18.92;ReadPosRankSum=-0.984;SOR=0.686	GT:AD:DP:GQ:PL	0/1:72,62:134:99:1436,0,1869	0	3	3	1
chr22	19180775	19180775	C	T	exonic	CLTCL1	.	nonsynonymous SNV	CLTCL1:NM_001835:exon30:c.G4688A:p.R1563H,CLTCL1:NM_007098:exon31:c.G4859A:p.R1620H	.	419	1040	61	2	0	65	0.030303	.	.	.	2821919	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.156	.	0.0055	0.0179712	0.0120	0.0017	0.0049	0.0107	0.0005	0.0072	0.0122	0.0482	0.0115328	1783	154602	rs5748024	0.0095	0.0095	0.0084	0.0107	0.0458	0.0094	0.0093	0.0446	0.0441	0.0013	0.0064	0.0203	0.0067	0.0008	0.0279	0.0072	0.0106	0.0458	0.0072	0.0072	0.0068	0.0077	0.0495	0.0069	0.0067	0.0444	0.0424	0.0016	0.0285	0.0074	0.0187	0.0106	0.0004	0.0272	0.0074	0.0090	0.0495	0.054	0.38633	T	0.056	0.46632	T	0.016	0.17332	B	0.015	0.17295	B	0.178427	0.17170	N	0.540718	1	0.08975	N	1.815	0.47718	L	1.44	0.32722	T	-1.99	0.45949	N	0.099	0.08088	-0.9915	0.32218	T	0.081	0.31913	T	10	0.0017917454	0.00023	T	.	.	.	0.156	0.40720	.	.	.	.	0.4663343100944464	0.46552	.	.	0.175947144628	0.00062	T	0.205721	0.56486	T	-0.577031	0.00201	T	-0.567333	0.15694	T	0.0139584133045565	0.00268	T	0.857914	0.54891	D	0.027700981	0.02001	0.042738877	0.05158	0.023303073	0.01059	0.042738877	0.05158	-4.509	0.33765	T	0.4150719537382289	0.50475	0.066	0.10111	B	.;.;.;.	.;.;.;.	-0.399366	0.02216	0.222	0.90121329692522201	0.19402	0.13782	0.18049	N	AEFBI	0.223044	0.34745	N	-1.48063429334403	0.01986	0.08726487	-1.65069623804797	0.01372	0.06198492	0.999999830592746	0.74766	0.718356	0.82227	0	0.59043	0.45803	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	4.81	-5.85	0.02121	0.293000	0.18785	-5.817000	0.01586	-1.541000	0.00979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.9211:0.0:0.0789	18.122	0.89504	756	0.51065	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.019134	0.010101	0.016304	0.020468	0.100000	0.008621	0.009146	0.030303	0.07143	882.44	37	chr22	19180775	.	C	T	882.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.475;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=-0.951;SOR=0.587	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	1	0
chr22	19880651	19880651	C	T	exonic	TXNRD2	.	unknown	UNKNOWN	.	0	1517	5	0	0	5	0.00164528	.	.	.	951343	not_provided|Primary_dilated_cardiomyopathy|Cardiovascular_phenotype	MedGen:C3661900|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.227	0.0340626979881	.	0.000199681	2.517e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs528059873	1.985e-05	1.984e-05	5.448e-06	3.439e-05	0.0003	1.393e-05	1.204e-05	0.0002	0.0001	2.987e-05	2.236e-05	0	2.519e-05	0	0	3.597e-06	0	0.0003	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	7.301e-05	3.033e-05	0	0	0	0	0	0	0	0	0	0.0004	0.072	0.34982	T	0.115	0.45110	T	0.009	0.15093	B	0.002	0.06944	B	0.925948	0.07505	N	1.031590	1	0.08975	N	1.06	0.26948	L	-0.51	0.70597	T	-2.87	0.60348	D	0.199	0.30233	-0.7685	0.56940	T	0.296	0.66745	T	10	0.14633414	0.27745	T	0.034063	0.55422	D	0.227	0.52620	0.497	0.58678	0.373357554552	0.36949	.	.	0.243796731124	0.26884	0.232830673456	0.02184	T	0.288649	0.66144	T	-0.263685	0.12472	T	-0.324393	0.42091	T	0.0512812799523378	0.05724	T	0.471653	0.14010	T	0.060433634	0.12401	0.089382775	0.20900	0.060433634	0.12400	0.089382775	0.20899	.	.	.	0.15536219944362495	0.18617	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.271002	0.06489	2.964	0.87701476828810609	0.17418	0.05754	0.11683	N	AEFDGBHCI	0.159220	0.28499	N	-1.0357727536026	0.07869	0.3670413	-1.11842764933087	0.07348	0.357078	0.999999998143983	0.74766	0.733237	0.96898	0	0.633656	0.55848	0	0.601644	0.32324	0	0.621717	0.48901	0	.	.	5.38	-1.08	0.09428	1.101000	0.30650	0.597000	0.19884	-1.084000	0.01555	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.4677:0.2953:0.2371	10.920	0.46369	907	0.22727	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	677.83	36	chr22	19880651	.	C	T	677.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.102;DP=229;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-0.907;SOR=0.716	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1388	6	0	1	0
chr22	20242849	20242849	C	T	exonic	RTN4R	.	nonsynonymous SNV	RTN4R:NM_023004:exon2:c.G284A:p.R95Q	.	412	1106	3	0	1	4	0.0013544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0151781609179	.	.	4.265e-05	0	0	0.0006	0	0	0	0	3.23e-05	5	154602	rs755446506	1.027e-05	1.026e-05	9.536e-06	1.101e-05	0.0001	6.17e-06	4.89e-06	4.907e-05	3.165e-05	0	4.472e-05	0	0.0001	0	0	5.396e-06	0	2.319e-05	3.286e-05	3.284e-05	3.855e-05	2.691e-05	0.0004	1.261e-05	7.98e-06	6.842e-05	2.863e-05	0	0	0	0	0.0004	0	0	4.41e-05	0	0	0.225	0.18626	T	0.282	0.21545	T	0.001	0.07471	B	0.001	0.04355	B	0.863148	0.08880	N	0.905862	0.999676	0.20721	N	0.135	0.08676	N	0.37	0.57729	T	-0.12	0.08809	N	0.071	0.04426	-1.0355	0.18700	T	0.075	0.30272	T	10	0.04432696	0.03378	T	0.015178	0.35761	T	0.031	0.07369	0.502	0.59460	0.480291771823	0.47660	0.24098992199893285	0.24012	0.433511948005	0.43505	0.418078631163	0.27573	T	0.102825	0.41092	T	-0.474999	0.00792	T	-0.577348	0.14781	T	0.0216123192230991	0.00866	T	0.562444	0.19755	T	0.10247928	0.24216	0.09190894	0.21632	0.10247928	0.24216	0.09190894	0.21632	-4.894	0.35667	T	.	.	0.077	0.06205	B	.	.	0.616446	0.09851	6.611	0.93063958317213613	0.22676	0.06850	0.12875	N	AEFDGBI	0.088238	0.17888	N	-1.36100991531098	0.03012	0.1339003	-1.42439236580768	0.03010	0.139586	0.999997379546821	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.42	-3.84	0.03976	-2.300000	0.01219	-6.690000	0.01331	-0.186000	0.09761	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2136:0.3102:0.0:0.4762	4.419	0.10899	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1154.44	35	chr22	20242849	.	C	T	1154.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.36;DP=264;ExcessHet=0;FS=0.832;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=1.36;SOR=0.589	GT:AD:DP:GQ:PL	0/1:37,43:80:99:1165,0,831	6	0	1	0
chr22	20721336	20721336	G	C	exonic	PI4KA	.	nonsynonymous SNV	PI4KA:NM_001362862:exon42:c.C4985G:p.T1662S,PI4KA:NM_001362863:exon42:c.C5012G:p.T1671S,PI4KA:NM_058004:exon43:c.C5078G:p.T1693S	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.510	0.137835661769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	4.084e-06	0	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.38863	T	0.011	0.64786	D	0.995	0.67487	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.32	0.58468	T	-3.68	0.70314	D	0.856	0.85238	-0.1027	0.80036	T	0.430	0.77199	T	10	0.7647389	0.76616	D	0.137836	0.82033	D	0.510	0.78971	.	.	0.610589977033	0.60745	0.5215848846702029	0.52081	1.74466233129	0.90909	0.836608409882	0.87577	D	0.875713	0.97353	D	0.270256	0.80464	D	0.150427	0.80210	D	0.985687851905823	0.76606	D	0.89931	0.90706	D	0.648788	0.75299	0.3209739	0.58049	0.648788	0.75300	0.3209739	0.58048	-10.782	0.78449	D	.	.	0.851	0.79791	P	.;.	.;.	4.834528	0.78871	27.0	0.99737007529162902	0.83192	0.98903	0.88402	D	AEFBI	0.909392	0.86597	D	0.886558306281683	0.91085	10.70863	0.843709402020154	0.92643	11.546	0.999999999999441	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	9.751000	0.98084	11.531000	0.93088	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.554	0.91028	934	0.15400	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	919.46	33	chr22	20721336	.	G	C	919.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.363;DP=267;ExcessHet=0;FS=0.805;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=0.339;SOR=0.547	GT:AD:DP:GQ:PL	0/1:47,41:88:99:930,0,1053	6	0	1	0
chr22	20727333	20727333	G	A	exonic	PI4KA	.	nonsynonymous SNV	PI4KA:NM_001362862:exon40:c.C4745T:p.A1582V,PI4KA:NM_001362863:exon40:c.C4772T:p.A1591V,PI4KA:NM_058004:exon41:c.C4838T:p.A1613V	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	0.101710993754	.	.	3.396e-05	0	0	0	0	6.186e-05	0	0	2.59e-05	4	154602	rs773075609	5.066e-05	5.13e-05	4.905e-05	5.229e-05	0.0001	4.129e-05	3.781e-05	4.909e-05	3.826e-05	0	6.746e-05	0	0.0001	1.891e-05	0	5.307e-05	8.285e-05	1.161e-05	5.258e-05	5.253e-05	5.139e-05	5.382e-05	0.0004	2.558e-05	1.83e-05	6.835e-05	2.86e-05	2.413e-05	0	0	0	0.0004	0	0	4.41e-05	0.0010	0	.	.	.	0.005	0.72224	D	.	.	.	.	.	.	0.000000	0.84330	D	0.048747	1	0.81001	D	.	.	.	-0.26	0.67187	T	.	.	.	0.742	0.74189	-0.1591	0.78693	T	0.403	0.75338	T	10	0.81649995	0.80885	D	0.101711	0.77475	D	0.397	0.71163	.	.	0.74282567625	0.74051	0.540568723893045	0.53981	1.6211804712	0.89064	0.699438035488	0.67062	T	0.915047	0.98432	D	0.0301478	0.55744	T	-0.00856738	0.69778	D	0.723187208175659	0.41860	D	0.964404	0.86792	D	0.36491072	0.58206	0.25275275	0.50910	0.36491072	0.58207	0.25275275	0.50909	-9.276	0.69456	D	.	.	0.111	0.21653	B	.	.	5.522743	0.91795	32	0.99927283505956821	0.99163	0.99071	0.90800	D	AEFDBI	0.903708	0.85313	D	0.644614683711408	0.76021	6.410147	0.61988646815902	0.76385	6.48129	0.999999610422687	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.44	4.41	0.52588	9.759000	0.98125	9.888000	0.82251	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.729000	0.35066	0.0:0.0:0.8612:0.1388	15.595	0.76314	917	0.20147	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	720.49	34	chr22	20727333	.	G	A	720.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.438;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=2.16;SOR=0.683	GT:AD:DP:GQ:PL	0/1:42,33:75:99:731,0,995	6	0	1	0
chr22	21387331	21387331	C	T	exonic	RIMBP3B;RIMBP3C	.	nonsynonymous SNV	RIMBP3C:NM_001128633:exon1:c.C3473T:p.T1158M,RIMBP3B:NM_001128635:exon1:c.C3473T:p.T1158M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00235251515499	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1448612804	0.0011	0.0020	0.0010	0.0012	0.0033	0.0010	0.0009	0.0026	0.0024	0	9.234e-05	0	0	0.0045	0	0.0033	0.0014	0.0004	0	0.0015	0	0	.	0	0	.	.	0	.	0	0	0	0	.	0	0	0	.	.	.	0.229	0.25210	T	.	.	.	.	.	.	0.925030	0.08460	N	0.962179	1	0.08975	N	-0.11	0.04642	N	.	.	.	.	.	.	0.057	0.02861	-1.0029	0.29080	T	0.023	0.09878	T	10	0.03739202	0.02090	T	0.002353	0.04562	T	.	.	.	.	0.0297737177859	0.01360	0.2859384545478607	0.28506	.	.	0.327248901129	0.14519	T	0.006666	0.06097	T	-0.398257	0.02377	T	-0.809845	0.01669	T	0.0312898345291615	0.02193	T	0.368563	0.08641	T	0.014765909	0.00107	0.027517494	0.00910	0.014765909	0.00107	0.027517494	0.00910	-4.763	0.34157	T	.	.	0.075	0.05668	B	.	.	-0.851493	0.01010	0.042	0.48514723151398809	0.04055	0.01593	0.05177	N	AEFI	0.040679	0.06085	N	-1.64410502898948	0.01060	0.04599904	-1.71222316261018	0.01084	0.04869402	3.45538014588256E-4	0.06626	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.99	-5.86	0.02114	-0.434000	0.07009	0.588000	0.19789	-0.739000	0.03678	0.000000	0.06391	0.785000	0.26813	0.339000	0.25409	0.0:0.2701:0.1459:0.584	5.776	0.17542	716	0.55970	Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	77.49	1	chr22	21387331	.	C	T	77.49	.	AC=2;AF=0.333;AN=6;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=25;QD=25.83;SOR=2.833	GT:AD:DP:GQ:PL	./.:.:.:.:.	2	1	0	4
chr22	21939549	21939551	TCC	-	exonic	PPM1F	.	nonframeshift deletion	PPM1F:NM_014634:exon3:c.336_338del:p.E113del	.	398	1089	34	1	0	36	0.0162602	.	.	.	2090960	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0058	0.00399361	0.0070	0.0009	0.0049	0	0.0032	0.0079	0	0.0121	0.0029968	78	26028	rs551955938	0.0046	0.0047	0.0044	0.0049	0.0111	0.0045	0.0045	0.0095	0.0093	0.0006	0.0028	0.0043	0	0.0013	0.0111	0.0047	0.0040	0.0101	0.0036	0.0036	0.0036	0.0035	0.0083	0.0033	0.0032	0.0063	0.0055	0.0008	0.0154	0.0031	0.0058	0	0.0008	0	0.0054	0.0052	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009063	0.005051	0.004076	0.014620	0.000000	0.017241	0.006098	0.015152	0.07143	2205.4	35	chr22	21939548	.	TTCC	T	2205.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.183;DP=277;ExcessHet=0;FS=1.664;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=22.5;ReadPosRankSum=1.7;SOR=0.525	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1177	6	0	1	0
chr22	21946008	21946008	C	G	exonic	PPM1F	.	nonsynonymous SNV	PPM1F:NM_014634:exon2:c.G41C:p.S14T	.	421	1084	16	1	0	18	0.00823422	.	.	.	2134976	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.054	0.0257790969655	0.0008	0.000599042	0.0012	0	0.0003	0	0	0.0017	0.0012	0.0016	0.0011061	171	154602	rs139013152	0.0008	0.0008	0.0007	0.0009	0.0039	0.0008	0.0008	0.0027	0.0023	0.0001	0.0002	0.0174	2.567e-05	0	0.0039	0.0004	0.0018	0.0013	0.0008	0.0008	0.0008	0.0009	0.0010	0.0007	0.0007	0.0005	0.0005	2.405e-05	0	0.0005	0.0187	0	9.409e-05	0.0034	0.0007	0	0.0010	0.606	0.05668	T	0.63	0.07196	T	0.006	0.26577	B	0.009	0.25278	B	0.004481	0.01026	N	2.694200	1	0.08975	N	0	0.06538	N	2.56	0.22067	T	-0.45	0.14782	N	0.139	0.13769	-1.0178	0.24431	T	0.027	0.11574	T	10	0.0021249056	0.00031	T	0.025779	0.48731	D	0.054	0.15330	.	.	0.170165803431	0.16609	0.12335654753335572	0.12261	0.391337161651	0.40333	0.357301831245	0.18992	T	0.047883	0.27853	T	-0.616148	0.00116	T	-0.703382	0.05643	T	0.0107639225799415	0.00152	T	0.285571	0.05082	T	0.20939964	0.43205	0.046781745	0.06594	0.20939964	0.43205	0.046781745	0.06594	-4.452	0.30256	T	.	.	0.071	0.04558	B	.;.	.;.	0.719235	0.10881	7.556	0.7109853634938238	0.09515	0.03943	0.09341	N	AEFBHCI	0.044107	0.07055	N	-1.00542435511144	0.08490	0.3982985	-0.992517248170322	0.09952	0.4982417	0.999674215809566	0.41644	0.722319	0.85440	0	0.80507	0.99744	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	2.68	1.49	0.21966	0.228000	0.17594	.	.	0.547000	0.25779	0.000000	0.06391	0.001000	0.17328	0.077000	0.17074	0.1942:0.6142:0.1916:0.0	6.502	0.21371	698	0.58074	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.000000	0.002717	0.002924	0.000000	0.008621	0.003049	0.000000	0.07143	709.49	33	chr22	21946008	.	C	G	709.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.824;DP=261;ExcessHet=0;FS=1.78;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.06;ReadPosRankSum=-0.806;SOR=0.941	GT:AD:DP:GQ:PL	0/1:54,34:88:99:720,0,1242	6	0	1	0
chr22	21959632	21959632	C	G	exonic	TOP3B	.	nonsynonymous SNV	TOP3B:NM_001282112:exon15:c.G1759C:p.D587H,TOP3B:NM_001282113:exon15:c.G1759C:p.D587H,TOP3B:NM_003935:exon15:c.G1759C:p.D587H,TOP3B:NM_001349845:exon16:c.G1759C:p.D587H,TOP3B:NM_001349847:exon16:c.G1759C:p.D587H,TOP3B:NM_001349848:exon16:c.G1351C:p.D451H,TOP3B:NM_001349851:exon16:c.G1351C:p.D451H,TOP3B:NM_001349850:exon17:c.G1351C:p.D451H,TOP3B:NM_001349852:exon17:c.G1351C:p.D451H	.	.	.	.	.	.	.	.	.	.	.	3346979	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.065	0.0443781667161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.087	0.40747	T	0.356	0.33761	B	0.276	0.40142	B	0.000008	0.62929	D	0.142496	0.999997	0.81001	D	2.19	0.61577	M	1.91	0.23283	T	-2.94	0.61435	D	0.454	0.49237	-0.3991	0.72056	T	0.361	0.72300	T	10	0.3733345	0.53643	T	0.044378	0.61457	D	0.065	0.18881	0.385	0.40460	0.62846413496	0.62543	0.7411067416842851	0.74056	0.563558072501	0.52783	0.597298741341	0.52523	T	0.384715	0.74627	T	-0.0825146	0.39306	T	-0.356303	0.38481	T	0.965294480323792	0.67223	D	0.973703	0.90499	D	0.4690099	0.65229	0.29918197	0.55951	0.4690099	0.65230	0.29918197	0.55950	-8.576	0.64931	D	.	.	0.224	0.45605	B	.;.	.;.	4.518890	0.70831	25.6	0.99396952808841177	0.62610	0.95186	0.63755	D	AEFDGBHCI	0.622723	0.60693	D	0.461122151233887	0.64835	4.747441	0.520709862097929	0.69385	5.352856	0.999999999616177	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.78	4.57	0.55860	5.645000	0.67582	.	.	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.9236:0.0:0.0764	15.714	0.77420	699	0.57969	DNA topoisomerase, type IA, central;DNA topoisomerase, type IA, central	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	62.44	35	chr22	21959632	.	C	G	62.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.674;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.61;ReadPosRankSum=0.674;SOR=2.303	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1352	6	0	1	0
chr22	22893750	22893750	G	C	exonic	IGLL5	.	nonsynonymous SNV	IGLL5:NM_001178126:exon2:c.G257C:p.R86P	.	224	1296	1	0	1	2	0.000385654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.00152466423057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27426	T	0.203	0.27325	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.18198	N	0.695	0.17993	N	6.51	0.00528	T	-2.12	0.49018	N	0.244	0.27554	-0.9569	0.39753	T	0.001	0.00438	T	9	0.086820275	0.14795	T	0.001525	0.02369	T	0.297	0.61730	0.437	0.48993	0.0297737177859	0.01360	0.48619770528846007	0.48539	.	.	.	.	.	0.016983	0.19921	T	-0.170924	0.25095	T	-0.483297	0.24097	T	0.047261608365618	0.05012	T	0.380262	0.09172	T	0.20079501	0.42067	0.17040162	0.39146	0.20079501	0.42067	0.17040162	0.39145	-3.177	0.12202	T	.	.	0.1	0.19357	B	.;.	.;.	0.838630	0.12104	8.655	0.81769782066303465	0.13851	0.05621	0.11529	N	AEFDGBHCI	0.098218	0.19796	N	-1.03769202994412	0.07831	0.3651351	-1.12783864064277	0.07172	0.3478758	0.998297830747551	0.36710	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.39	-1.24	0.08948	0.795000	0.26632	-2.839000	0.03309	-0.109000	0.15193	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.392:0.2237:0.3843:0.0	3.050	0.05793	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1900.46	34	chr22	22893750	.	G	C	1900.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.378;DP=371;ExcessHet=0;FS=2.599;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=0.501;SOR=0.918	GT:AD:DP:GQ:PL	0/1:99,86:185:99:1911,0,2236	6	0	1	0
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17,BCR:NM_004327:exon19:c.3274_3275insCCGG:p.V1094Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	25	583	905	9	0	923	0.441838	.	.	.	1196252	Chronic_myelogenous_leukemia,_BCR-ABL1_positive|not_provided	Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	3049.25	65	chr22	23311788	.	T	TCCGG	3049.25	.	AC=6;AF=0.429;AN=14;BaseQRankSum=1.91;DP=565;ExcessHet=8.2628;FS=21.365;MLEAC=6;MLEAF=0.429;MQ=55.55;MQRankSum=-7.119;QD=5.72;ReadPosRankSum=1.15;SOR=1.923	GT:AD:DP:GQ:PL	0/1:98,15:113:99:335,0,4042	1	0	6	0
chr22	23311830	23311830	G	A	exonic	BCR	.	nonsynonymous SNV	BCR:NM_021574:exon18:c.G3184A:p.D1062N,BCR:NM_004327:exon19:c.G3316A:p.D1106N	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	59	994	464	5	0	474	0.192526	.	.	.	247185	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.231	0.0272677260962	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879255379	3.426e-06	6.156e-06	5.454e-06	1.377e-06	2.994e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.994e-05	2.236e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35726	T	0.018	0.59732	D	0.976	0.58310	D	0.752	0.56092	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.765	0.19305	N	2.66	0.12575	T	-3.28	0.65627	D	0.843	0.83885	-1.1463	0.01139	T	0.053	0.22423	T	10	0.81994617	0.81205	D	0.027268	0.50098	D	0.231	0.53208	.	.	0.600008996327	0.59681	0.3965005129848048	0.39565	2.73974519172	0.98685	0.815404891968	0.84322	D	0.308497	0.68058	T	-0.175721	0.24374	T	-0.490187	0.23372	T	0.916451156139374	0.57389	D	0.875712	0.89686	D	0.43747994	0.63240	0.3549618	0.61031	0.43747994	0.63240	0.3549618	0.61031	-6.831	0.53477	T	.	.	0.771	0.75988	P	.;.	.;.	5.927754	0.94089	33	0.99910446622876614	0.98022	0.98481	0.83233	D	AEFBI	0.912634	0.87354	D	0.533033419009816	0.69054	5.303049	0.562786706860508	0.72290	5.786788	0.9999990001556	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	9.664000	0.97881	6.611000	0.56088	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	16.632	0.84893	940	0.13648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	724.04	81	chr22	23311830	.	G	A	724.04	.	AC=4;AF=0.286;AN=14;BaseQRankSum=4.03;DP=501;ExcessHet=2.5225;FS=34.125;MLEAC=4;MLEAF=0.286;MQ=57.74;MQRankSum=-9.243;QD=2.4;ReadPosRankSum=-2.988;SOR=3.372	GT:AD:DP:GQ:PL	0/0:95,8:103:31:0,31,2295	3	0	4	0
chr22	23767562	23767562	C	T	exonic	CHCHD10	.	nonsynonymous SNV	CHCHD10:NM_001301339:exon2:c.G73A:p.A25T,CHCHD10:NM_213720:exon2:c.G73A:p.A25T	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant;Spinal muscular atrophy, Jokela type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.284649490245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.885e-06	1.629e-05	0	1.172e-05	7.396e-06	1.57e-06	4.4e-07	1.97e-06	5.5e-07	0	0	0	0	0	0	7.396e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.23905	T	0.066	0.44501	T	0.99	0.63424	D	0.548	0.49136	P	0.001487	0.38855	N	0.163001	0.998889	0.81001	D	2.385	0.68708	M	0.68	0.51952	T	-2.48	0.55181	N	0.205	0.22742	-0.8977	0.48224	T	0.145	0.46768	T	10	0.19974285	0.35994	T	0.284649	0.90353	D	0.059	0.16972	0.221	0.14371	0.367425347029	0.36354	0.3337907061106184	0.33292	0.484840346729	0.47389	0.768681645393	0.77228	T	0.078325	0.35865	T	-0.122605	0.32698	T	-0.41389	0.31778	T	0.969273746013641	0.68533	D	0.682032	0.29067	T	0.22083718	0.44648	0.21526349	0.46108	0.22083718	0.44648	0.21526349	0.46107	-5.246	0.39406	T	0.3004348731404725	0.39775	0.112	0.21766	B	.;.	.;.	2.944989	0.39173	20.9	0.99425303975153401	0.63984	0.56530	0.30141	D	AEFDBCI	0.204057	0.33053	N	0.0947995194011257	0.46220	2.865768	0.0367031720861767	0.41432	2.489152	0.999999999984256	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.492483	0.08430	1	.	.	3.77	3.77	0.42499	1.299000	0.33028	5.284000	0.48189	0.464000	0.21668	0.001000	0.13787	1.000000	0.68203	0.206000	0.22070	0.0:1.0:0.0:0.0	13.979	0.63801	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	77.68	10	chr22	23767562	.	C	T	77.68	.	AC=2;AF=0.143;AN=14;DP=132;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=25.89;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:28,0:28:72:.:.:0,72,1080:.	6	1	0	0
chr22	23868632	23868632	C	T	exonic	SLC2A11	.	nonsynonymous SNV	SLC2A11:NM_001024938:exon3:c.C272T:p.T91M,SLC2A11:NM_001024939:exon3:c.C281T:p.T94M,SLC2A11:NM_001282864:exon3:c.C293T:p.T98M,SLC2A11:NM_030807:exon4:c.C293T:p.T98M	.	415	1079	27	1	0	29	0.0132602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00285328224875	0.0015	0.000998403	0.0018	0.0002	0.0019	0.0001	0.0021	0.0019	0.0033	0.0029	0.0018628	288	154602	rs147655616	0.0025	0.0025	0.0025	0.0026	0.0064	0.0025	0.0024	0.0048	0.0042	0.0004	0.0013	0.0011	5.038e-05	0.0031	0.0064	0.0027	0.0023	0.0027	0.0016	0.0016	0.0015	0.0016	0.0027	0.0014	0.0013	0.0019	0.0018	0.0003	0	0.0019	0.0009	0.0002	0.0022	0.0034	0.0022	0.0024	0.0027	0.233	0.21066	T	0.553	0.37872	T	0.018	0.22331	B	0.017	0.18140	B	0.495473	0.05061	N	1.277620	1	0.08975	N	0.74	0.18910	N	0.32	0.58468	T	-0.12	0.19509	N	0.093	0.08088	-1.0634	0.10926	T	0.072	0.29130	T	10	0.011306167	0.00248	T	0.002853	0.05986	T	0.020	0.03691	.	.	0.19670166235	0.19296	0.20182158837149614	0.20099	0.202585186865	0.22681	0.478492975235	0.35850	T	0.070789	0.34048	T	-0.568831	0.00225	T	-0.591968	0.13497	T	0.00144861977799099	0.00015	T	0.382662	0.37284	T	0.01077548	0.00010	0.027635762	0.00930	0.01077548	0.00010	0.027635762	0.00930	-8.159	0.62148	D	.	.	0.089	0.14015	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.555940	0.01696	0.123	0.83462073176033214	0.14739	0.01290	0.04493	N	AEFDBIJ	0.035620	0.04615	N	-1.45997001376919	0.02140	0.09415012	-1.58184644757198	0.01766	0.08035872	0.474301786729943	0.20733	0.706548	0.73137	0	0.724815	0.89359	0	0.693117	0.63056	0	0.655142	0.61905	0	.	.	3.27	-6.53	0.01697	-0.918000	0.04130	-5.737000	0.01613	-0.249000	0.07183	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.2235:0.4031:0.2241:0.1493	1.016	0.01413	976	0.04745	Major facilitator superfamily domain|Major facilitator superfamily domain;.;.;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.004076	0.005848	0.000000	0.000000	0.003049	0.007576	0.07143	1131.53	43	chr22	23868632	.	C	T	1131.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.45;DP=272;ExcessHet=0;FS=0.841;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.393;SOR=0.869	GT:AD:DP:GQ:PL	0/1:43,45:88:99:1142,0,961	6	0	1	0
chr22	24728188	24728188	C	T	exonic	PIWIL3	.	nonsynonymous SNV	PIWIL3:NM_001008496:exon15:c.G1921A:p.V641M,PIWIL3:NM_001255975:exon15:c.G1894A:p.V632M	.	426	1073	23	0	0	23	0.010604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.00361560990224	0.0035	0.00139776	0.0041	0.0007	0.0031	0	0.0008	0.0055	0.0077	0.0050	0.0040556	627	154602	rs148034582	0.0049	0.0049	0.0047	0.0050	0.0295	0.0048	0.0047	0.0259	0.0245	0.0007	0.0034	0.0235	0	0.0007	0.0295	0.0048	0.0049	0.0052	0.0035	0.0035	0.0031	0.0039	0.0080	0.0033	0.0032	0.0068	0.0064	0.0012	0	0.0080	0.0213	0	0.0010	0.0238	0.0036	0.0066	0.0033	0.002	0.72154	D	0.005	0.74150	D	1.0	0.90584	D	0.996	0.97372	D	0.000001	0.84330	U	0.000000	0.999958	0.52396	D	2.3	0.65703	M	2.27	0.17431	T	-2.17	0.49018	N	0.466	0.59816	-0.9902	0.32551	T	0.094	0.35658	T	10	0.006213516	0.00140	T	0.003616	0.08278	T	0.332	0.65424	.	.	0.570720304676	0.56738	0.07619775018203243	0.07555	0.540815140974	0.51270	0.43589502573	0.30015	T	0.09227	0.38968	T	-0.393089	0.02569	T	-0.336606	0.40729	T	0.0337824151682511	0.02601	T	0.707729	0.31835	T	0.2770754	0.50766	0.34266573	0.59989	0.2770754	0.50766	0.34266573	0.59989	-7.439	0.57180	T	.	.	0.416	0.68202	A	.;.;.;.	.;.;.;.	3.728588	0.53327	23.3	0.9962245849106649	0.75533	0.55461	0.29870	D	AEFDGBCI	0.398365	0.47407	N	0.195139717388461	0.50965	3.281706	-0.0185238681218183	0.38878	2.296966	0.999994180458685	0.74766	0.616025	0.39624	0	0.547309	0.14657	0	0.547309	0.15389	0	0.677038	0.66255	0	.	.	2.71	1.68	0.23219	4.947000	0.63283	6.306000	0.55421	0.467000	0.21759	1.000000	0.71638	1.000000	0.68203	0.178000	0.21234	0.0:0.8598:0.0:0.1402	7.385	0.26051	472	0.77968	Piwi domain|Piwi domain|Piwi domain;Piwi domain|Piwi domain|Piwi domain;Piwi domain|Piwi domain|Piwi domain;Piwi domain|Piwi domain|Piwi domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.026687	0.055556	0.029891	0.038012	0.000000	0.025862	0.018293	0.011364	0.07143	52.44	41	chr22	24728188	.	C	T	52.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.967;DP=258;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.83;ReadPosRankSum=-1.803;SOR=1.179	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	6	0	1	0
chr22	25185120	25185120	-	TGA	splicing	KIAA1671	NM_001145206:exon9:c.5342+1->TGA	.	.	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0	0	0	0	0.0010	3.88e-05	6	154602	rs750252990	6.811e-05	6.498e-05	3.958e-05	9.747e-05	0.0011	5.689e-05	5.284e-05	0.0009	0.0008	0	0	0	0	0	0.0002	8.362e-06	3.465e-05	0.0011	2.626e-05	2.625e-05	0	5.37e-05	0.0004	8.14e-06	5.14e-06	7.29e-05	3.029e-05	0	0	0	0	0	0	0.0034	1.47e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	620.59	21	chr22	25185120	.	G	GTGA	620.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.919;DP=170;ExcessHet=0;FS=2.172;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=29.55;ReadPosRankSum=0.041;SOR=0.223	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	6	0	1	0
chr22	25761108	25761108	C	T	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon2:c.C16T:p.R6C,MYO18B:NM_032608:exon2:c.C16T:p.R6C	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1304859	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.610	0.171646218778	.	.	1.656e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs770116314	4.106e-06	6.156e-06	2.724e-06	5.503e-06	5.396e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	0	0	6.569e-06	6.566e-06	0	1.344e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	0.002404	0.36612	N	0.000000	0.999314	0.46639	D	2.045	0.56016	M	-3.62	0.95145	D	-2.97	0.61865	D	0.767	0.77413	0.943	0.96288	D	0.879	0.95995	D	10	0.8120339	0.80477	D	0.171646	0.84886	D	0.610	0.84719	.	.	0.964869779237	0.96449	0.4342245956018676	0.43339	0.436778139737	0.43757	0.804712295532	0.82682	D	0.251092	0.62129	T	0.277527	0.81104	D	0.160872	0.80860	D	0.995559096336365	0.87638	D	0.90371	0.66210	D	0.2101121	0.43298	0.19368885	0.42951	0.2101121	0.43298	0.19368885	0.42950	-9.153	0.68798	D	.	.	0.911	0.89329	P	.;.;.	.;.;.	5.745818	0.93355	33	0.99945811557870856	0.99901	0.85680	0.44839	D	AEFDGBHI	0.766121	0.70240	D	0.686737292116178	0.78763	6.937622	0.670094277410193	0.80114	7.227621	0.999999999925638	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.635259	0.50027	0	.	.	5.3	5.3	0.74745	4.513000	0.60194	7.541000	0.60087	0.549000	0.26987	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	14.454	0.66981	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2133.44	39	chr22	25761108	.	C	T	2133.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.15;DP=449;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=-2.374;SOR=0.714	GT:AD:DP:GQ:PL	0/1:75,84:159:99:2144,0,1770	6	0	1	0
chr22	26477019	26477019	T	C	exonic	HPS4	.	nonsynonymous SNV	HPS4:NM_152841:exon2:c.A235G:p.I79V,HPS4:NM_001349896:exon4:c.A250G:p.I84V,HPS4:NM_001349899:exon4:c.A250G:p.I84V,HPS4:NM_001349900:exon4:c.A250G:p.I84V,HPS4:NM_001349901:exon4:c.A250G:p.I84V,HPS4:NM_001349902:exon4:c.A250G:p.I84V,HPS4:NM_001349903:exon4:c.A250G:p.I84V,HPS4:NM_001349904:exon4:c.A250G:p.I84V,HPS4:NM_001349905:exon4:c.A250G:p.I84V,HPS4:NM_022081:exon4:c.A250G:p.I84V,HPS4:NM_001349898:exon5:c.A250G:p.I84V	Hermansky-Pudlak syndrome 4	0	1441	75	6	0	87	0.0293028	.	.	.	208784	Hermansky-Pudlak_syndrome|not_specified|not_provided|Hermansky-Pudlak_syndrome_4	MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013556,MedGen:C3484357,OMIM:614073,Orphanet:231500,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.241	0.0623340178287	0.0033	0.00319489	0.0047	0.0008	0.0044	0	0.0005	0.0060	0.0088	0.0058	0.0044566	689	154602	rs149830675	0.0041	0.0041	0.0039	0.0044	0.0522	0.0040	0.0040	0.0473	0.0454	0.0010	0.0055	0.0139	5.038e-05	0.0007	0.0522	0.0038	0.0051	0.0058	0.0034	0.0034	0.0032	0.0036	0.0083	0.0032	0.0031	0.0063	0.0055	0.0007	0	0.0067	0.0138	0.0002	0.0006	0.0306	0.0039	0.0085	0.0083	0.784	0.03961	T	0.669	0.06490	T	0.003	0.11197	B	0.006	0.12133	B	0.252946	0.15471	N	0.647105	0.999999	0.08975	N	-0.255	0.03828	N	-2.39	0.88377	D	-0.13	0.08971	N	0.135	0.13198	-0.8639	0.50981	T	0.288	0.65968	T	10	0.005489439	0.00121	T	0.062334	0.68619	D	0.241	0.54641	.	.	0.351830644314	0.34792	0.24602720115319746	0.24516	0.0420540668612	0.04528	0.254519402981	0.04258	T	0.089147	0.38311	T	-0.430818	0.01466	T	-0.389836	0.34570	T	0.00123692600673586	0.00012	T	0.539746	0.18485	T	0.016885735	0.00230	0.03104766	0.01641	0.011325766	0.00016	0.025522374	0.00600	-5.249	0.39435	T	.	.	0.064	0.02091	B	.;.;.;.	.;.;.;.	-4.306508	0.00000	0.001	0.45153967050783667	0.03523	0.03203	0.08199	N	AEDGBCI	0.039190	0.05656	N	-2.06045918445669	0.00156	0.006693053	-2.15293289425116	0.00143	0.006274361	0.999999999999995	0.74766	0.719381	0.83141	0	0.662677	0.63036	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.43	-10.9	0.00151	-2.990000	0.00722	-20.000000	0.00162	-1.438000	0.01107	0.000000	0.06391	0.000000	0.08366	0.184000	0.21420	0.0:0.7341:0.0703:0.1957	21.803	0.99963	966	0.07191	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.038771	0.025253	0.048913	0.064327	0.000000	0.086207	0.024390	0.007576	0.07143	877.44	79	chr22	26477019	.	T	C	877.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.088;DP=261;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=1.98;SOR=0.739	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1209	6	0	1	0
chr22	27983495	27983495	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6172C:p.G2058R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.600	0.158398177192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.157e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.027	0.58613	D	1.0	0.90584	D	0.999	0.92359	D	0.000562	0.43250	N	0.231958	0.999999	0.58761	D	2.005	0.54552	M	-3.6	0.95009	D	-2.8	0.59226	D	0.789	0.78546	0.805	0.94474	D	0.837	0.94553	D	10	0.61998546	0.67922	D	0.158398	0.83880	D	0.600	0.84183	0.239	0.17065	0.750618531641	0.74836	0.5121720383386701	0.51139	.	.	0.657954216003	0.61117	T	0.095784	0.39692	T	0.353062	0.86712	D	0.269372	0.86538	D	0.99226039648056	0.82702	D	0.987934	0.95926	D	0.3778262	0.59159	0.5174505	0.72120	0.3778262	0.59159	0.5174505	0.72120	-4.333	0.28637	T	.	.	0.962	0.88285	P	.;.	.;.	4.774876	0.77330	26.7	0.9991599844056599	0.98379	0.99519	0.96998	D	AEFDBI	0.922723	0.89811	D	0.528874973212774	0.68806	5.26799	0.494853380951096	0.67649	5.112284	0.99999983332082	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.62	3.6	0.40374	7.481000	0.80171	7.580000	0.60937	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9161:0.0:0.0839	12.290	0.54132	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	30.35	50	chr22	27983495	.	C	G	30.35	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-2.569;DP=400;ExcessHet=0.3476;FS=169.787;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.15;ReadPosRankSum=2.26;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,13:108:2:0|1:27983493_C_G:2,0,3534:27983493	3	0	2	2
chr22	28745874	28745874	A	G	exonic	HSCB	.	nonsynonymous SNV	HSCB:NM_172002:exon4:c.A434G:p.H145R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0023889506969	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1185839120	6.859e-07	6.84e-07	0	1.379e-06	2.282e-05	0	0	.	.	0	2.282e-05	0	0	0	0	0	0	0	6.569e-06	6.567e-06	1.284e-05	0	2.411e-05	0	0	.	.	2.411e-05	0	0	0	0	0	0	0	0	0	0.602	0.05601	T	0.772	0.04446	T	0.001	0.07471	B	0.0	0.01387	B	0.628410	0.10710	N	0.850945	0.999998	0.20745	N	0.33	0.10399	N	1.02	0.40749	T	-0.74	0.20791	N	0.038	0.01203	-1.0233	0.22638	T	0.056	0.23753	T	10	0.0706929	0.10319	T	0.002389	0.04673	T	0.077	0.22490	0.437	0.48993	0.252681307341	0.24864	0.18303083282286403	0.18222	0.206442923999	0.23069	0.293750345707	0.09472	T	0.023908	0.18164	T	-0.372293	0.03480	T	-0.772549	0.02685	T	0.0188620593216029	0.00597	T	0.422958	0.11265	T	0.074312255	0.16667	0.087314814	0.20287	0.074312255	0.16666	0.087314814	0.20286	-5.364	0.40572	T	.	.	0.055	0.00405	B	.	.	-0.752714	0.01204	0.059	0.70796587802544098	0.09414	0.01337	0.04602	N	AEFBI	0.045258	0.07382	N	-1.38139513502675	0.02812	0.1247369	-1.36614919012764	0.03619	0.1691839	0.999983785571559	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	-6.25	0.01863	-0.602000	0.05776	-2.034000	0.04313	-0.245000	0.07249	0.003000	0.16062	0.000000	0.08366	0.593000	0.31214	0.2782:0.0:0.7218:0.0	17.529	0.87705	441	0.80015	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	1007.44	34	chr22	28745874	.	A	G	1007.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.331;DP=236;ExcessHet=0.3476;FS=0.751;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=-0.839;SOR=0.82	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1178	5	0	2	0
chr22	29137548	29137548	G	A	exonic	KREMEN1	.	nonsynonymous SNV	KREMEN1:NM_001039570:exon6:c.G838A:p.V280I,KREMEN1:NM_032045:exon6:c.G838A:p.V280I	Ectodermal dysplasia 13, hair/tooth type, Autosomal recessive	431	1088	3	0	0	3	0.00137678	.	.	.	2110755	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.188	0.0118421938109	0.0011	0.000798722	0.0009	0.0004	0.0014	0	0	0.0013	0.0011	0.0003	0.0009508	147	154602	rs146915661	0.0011	0.0011	0.0012	0.0011	0.0023	0.0011	0.0010	0.0013	0.0011	0.0002	0.0013	0.0029	0	0	0.0023	0.0012	0.0015	0.0003	0.0013	0.0013	0.0012	0.0013	0.0035	0.0011	0.0011	0.0028	0.0025	0.0005	0	0.0035	0.0037	0	9.425e-05	0	0.0014	0.0033	0.0006	0.29	0.33254	T	0.046	0.50514	D	0.99	0.70673	D	0.98	0.80445	D	0.000039	0.55875	D	0.000000	1	0.81001	D	1.66	0.42513	L	1.61	0.28391	T	-0.12	0.09965	N	0.599	0.65416	-0.9614	0.38916	T	0.155	0.48550	T	10	0.06846094	0.09684	T	0.011842	0.29861	T	0.188	0.46444	.	.	0.477451190609	0.47374	0.2286316304191465	0.22778	0.641525643221	0.57744	0.485863208771	0.36866	T	0.032081	0.22330	T	-0.42717	0.01542	T	-0.390992	0.34435	T	0.0818373039364815	0.10221	T	0.90091	0.65583	D	0.29543838	0.52493	0.18021925	0.40807	0.29543838	0.52492	0.18021925	0.40806	-6.661	0.51516	T	0.3559732395771543	0.45283	0.145	0.35310	B	.;.;.	.;.;.	3.734903	0.53444	23.4	0.998824833157678	0.95813	0.98501	0.83448	D	AEFBI	0.829033	0.74802	D	0.659945139408731	0.77015	6.593865	0.650413924367121	0.78640	6.91729	0.999999999998344	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	4.89	4.89	0.63387	7.632000	0.82419	11.776000	0.95984	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.846000	0.39970	0.0:0.0:1.0:0.0	15.932	0.79456	504	0.75712	.;.;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	833.44	35	chr22	29137548	.	G	A	833.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.872;DP=238;ExcessHet=0;FS=3.856;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-0.127;SOR=0.424	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1310	6	0	1	0
chr22	29310838	29310838	C	T	exonic	GAS2L1	.	nonsynonymous SNV	GAS2L1:NM_001278730:exon5:c.C850T:p.P284S,GAS2L1:NM_001362985:exon5:c.C850T:p.P284S,GAS2L1:NM_006478:exon5:c.C850T:p.P284S,GAS2L1:NM_152236:exon5:c.C850T:p.P284S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0498980575008	.	.	4.155e-05	0	0	0	0	7.544e-05	0	0	3.23e-05	5	154602	rs754474897	8.918e-06	8.893e-06	8.191e-06	9.652e-06	2.323e-05	4.98e-06	3.83e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.9e-06	0	2.323e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.156	0.24090	T	0.234	0.24840	T	0.0	0.02946	B	0.001	0.04355	B	0.735884	0.09816	N	0.868598	1	0.08975	N	0.345	0.11182	N	1.01	0.41058	T	0.14	0.05405	N	0.17	0.18784	-1.0004	0.29803	T	0.054	0.22693	T	10	0.06025836	0.07373	T	0.049898	0.64009	D	0.018	0.03083	0.199	0.11247	0.236619781664	0.23270	0.114807668361982	0.11408	.	.	0.531475901604	0.43243	T	0.007719	0.07108	T	-0.446186	0.01189	T	-0.722326	0.04684	T	0.0137682892414364	0.00259	T	0.574842	0.20648	T	.	.	.	.	.	.	.	.	-6.105	0.47150	T	.	.	0.064	0.01715	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.551830	0.01709	0.125	0.6735085941764839	0.08329	0.05659	0.11573	N	AEFDGBCI	0.139696	0.26137	N	-1.23872875687802	0.04450	0.2008617	-1.27003875141028	0.04841	0.2293261	0.999999726498702	0.74766	0.75658	0.98901	0	0.626922	0.53725	0	0.858454	0.99976	0	0.648885	0.59868	0	.	.	4.08	-0.745	0.10538	-0.581000	0.05913	-0.618000	0.08187	-0.261000	0.06906	0.000000	0.06391	0.000000	0.08366	0.065000	0.16320	0.0:0.3017:0.4965:0.2017	6.149	0.19517	479	0.77495	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	1274.83	36	chr22	29310838	.	C	T	1274.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.092;DP=254;ExcessHet=0;FS=1.806;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=1.48;SOR=0.502	GT:AD:DP:GQ:PL	0/1:33,52:85:99:1285,0,762	6	0	1	0
chr22	29814731	29814731	C	A	exonic	ASCC2	.	nonsynonymous SNV	ASCC2:NM_001369942:exon4:c.G112T:p.G38W,ASCC2:NM_001369936:exon5:c.G304T:p.G102W,ASCC2:NM_001242906:exon6:c.G418T:p.G140W,ASCC2:NM_001369925:exon6:c.G487T:p.G163W,ASCC2:NM_001369927:exon6:c.G487T:p.G163W,ASCC2:NM_001369929:exon6:c.G487T:p.G163W,ASCC2:NM_001369930:exon6:c.G487T:p.G163W,ASCC2:NM_001369934:exon6:c.G304T:p.G102W,ASCC2:NM_001369937:exon6:c.G304T:p.G102W,ASCC2:NM_001369939:exon6:c.G304T:p.G102W,ASCC2:NM_001369941:exon6:c.G304T:p.G102W,ASCC2:NM_001369920:exon7:c.G646T:p.G216W,ASCC2:NM_001369924:exon7:c.G646T:p.G216W,ASCC2:NM_001369926:exon7:c.G487T:p.G163W,ASCC2:NM_001369933:exon7:c.G304T:p.G102W,ASCC2:NM_001369940:exon7:c.G304T:p.G102W,ASCC2:NM_032204:exon7:c.G646T:p.G216W,ASCC2:NM_001369922:exon8:c.G646T:p.G216W,ASCC2:NM_001369923:exon8:c.G646T:p.G216W,ASCC2:NM_001369928:exon8:c.G487T:p.G163W,ASCC2:NM_001369932:exon8:c.G304T:p.G102W,ASCC2:NM_001369935:exon8:c.G304T:p.G102W,ASCC2:NM_001369938:exon8:c.G304T:p.G102W,ASCC2:NM_001369921:exon9:c.G646T:p.G216W,ASCC2:NM_001369931:exon10:c.G304T:p.G102W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.0252996592422	.	.	8.25e-06	0	8.655e-05	0	0	0	0	0	6.5e-06	1	154602	rs765501010	6.863e-07	6.84e-07	0	1.38e-06	2.269e-05	0	0	.	.	0	2.269e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.59928	D	0.022	0.59732	D	0.992	0.64738	D	0.888	0.63021	P	0.021594	0.26803	N	0.451684	0.962186	0.38276	D	0.895	0.22405	L	1.45	0.32482	T	-2.93	0.61865	D	0.524	0.55972	-0.9949	0.31326	T	0.076	0.30429	T	10	0.19475222	0.35300	T	0.025	0.48274	D	0.235	0.53788	0.395	0.42099	0.344483371355	0.34058	0.3621596705726186	0.36129	0.883813065649	0.69874	0.427679479122	0.28892	T	0.112928	0.42958	T	-0.165099	0.25980	T	-0.385199	0.35113	T	0.76538817388148	0.44165	D	0.886911	0.61435	D	0.06521602	0.13914	0.115432665	0.27865	0.06521602	0.13914	0.115432665	0.27864	-7.169	0.55259	T	.	.	0.177	0.38836	B	.;.;.;.	.;.;.;.	3.061870	0.41119	21.3	0.99512316255568178	0.68678	0.44704	0.27377	N	AEFDBI	0.277755	0.39219	N	0.146650997102453	0.48655	3.075002	0.110905874123434	0.45104	2.779688	0.987786127849943	0.31342	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.33	1.92	0.24912	0.636000	0.24333	0.568000	0.19578	0.599000	0.40250	0.847000	0.30396	0.084000	0.22431	0.995000	0.73285	0.1767:0.4628:0.1706:0.1898	1.437	0.02203	608	0.67185	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	364.44	41	chr22	29814731	.	C	A	364.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.783;DP=356;ExcessHet=0;FS=162.568;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.18;ReadPosRankSum=-0.314;SOR=7.475	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	6	0	1	0
chr22	30020235	30020235	G	C	exonic	MTMR3	.	nonsynonymous SNV	MTMR3:NM_021090:exon17:c.G2576C:p.G859A,MTMR3:NM_153050:exon17:c.G2576C:p.G859A,MTMR3:NM_153051:exon17:c.G2576C:p.G859A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.050443386641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.722e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.22053	T	0.851	0.06469	T	0.044	0.24078	B	0.024	0.25678	B	0.003156	0.00942	N	2.418420	1	0.08975	N	0.695	0.17993	N	-2.86	0.92457	D	-0.34	0.12661	N	0.128	0.19190	-0.4873	0.69104	T	0.531	0.82593	D	10	0.06396523	0.08414	T	0.050443	0.64245	D	0.146	0.38789	0.15	0.05339	0.538573992546	0.53509	0.2676185031254602	0.26674	0.149234037661	0.16829	0.257211685181	0.04564	T	0.221278	0.58481	T	-0.082312	0.39337	T	-0.356012	0.38513	T	0.0965709764517974	0.11975	T	0.894111	0.63286	D	0.023973223	0.01184	0.038734812	0.03808	0.023973223	0.01184	0.038734812	0.03808	-3.517	0.16671	T	.	.	0.077	0.15115	B	.;.;.;.;.	.;.;.;.;.	0.417853	0.07885	4.588	0.62820395440317489	0.07061	0.17479	0.19855	N	AEFDGBI	0.103489	0.20733	N	-0.95544245443262	0.09571	0.4535478	-0.965430104761316	0.10567	0.5330402	0.999979975378644	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.88	0.596	0.16678	0.054000	0.14087	2.231000	0.31532	0.676000	0.76740	0.000000	0.06391	0.992000	0.31684	0.259000	0.23493	0.3506:0.1514:0.3419:0.1561	0.931	0.01251	321	0.86949	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2140.44	34	chr22	30020235	.	G	C	2140.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.077;DP=345;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-1.852;SOR=0.737	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1212	6	0	1	0
chr22	30366082	30366082	G	A	exonic	CCDC157	.	nonsynonymous SNV	CCDC157:NM_001017437:exon3:c.G82A:p.V28I,CCDC157:NM_001318334:exon3:c.G82A:p.V28I,CCDC157:NM_001318335:exon3:c.G82A:p.V28I	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0141185052877	0.0002	.	8.273e-05	0	0	0	0	0.0001	0	6.058e-05	6.47e-05	10	154602	rs368016774	4.182e-05	4.241e-05	4.64e-05	3.72e-05	0.0028	3.318e-05	3.007e-05	0.0017	0.0014	0	2.236e-05	0	0	3.975e-05	0.0028	2.878e-05	9.942e-05	4.637e-05	6.566e-05	6.561e-05	3.855e-05	9.401e-05	0.0001	3.514e-05	2.615e-05	4.766e-05	3.34e-05	2.406e-05	0	0	0.0003	0	0	0.0034	0.0001	0	0	0.093	0.40068	T	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	.	.	.	.	0.991652	0.41441	D	2.215	0.62545	M	0.61	0.53516	T	-0.71	0.20145	N	0.179	0.22486	-0.5953	0.65008	T	0.283	0.65468	T	9	0.25547695	0.42941	T	0.014119	0.34021	T	0.157	0.40909	.	.	0.270447802918	0.26645	0.2896293672047166	0.28875	0.0692228764324	0.07746	0.524654746056	0.42282	T	0.020941	0.16396	T	-0.172807	0.24811	T	-0.299465	0.44780	T	0.134574130945683	0.15798	T	0.743826	0.36376	T	0.06278155	0.13149	0.09629504	0.22874	0.06278155	0.13149	0.09629504	0.22873	-4.058	0.24668	T	.	.	0.118	0.34116	B	.;.;.;.;.	.;.;.;.;.	3.039980	0.40753	21.2	0.99753059335246352	0.84460	0.98492	0.83351	D	AEFDBI	0.689480	0.65013	D	0.703303643594976	0.79847	7.165436	0.677825898925095	0.80698	7.35718	0.999999999938381	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.36	5.36	0.76624	7.325000	0.78398	7.517000	0.59705	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.328000	0.25156	0.0:0.0:1.0:0.0	17.241	0.86895	305	0.87738	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1414.49	37	chr22	30366082	.	G	A	1414.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.65;DP=313;ExcessHet=0;FS=7.112;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-0.078;SOR=0.319	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,114,1710	6	0	1	0
chr22	30461658	30461658	C	G	exonic	SEC14L3	.	nonsynonymous SNV	SEC14L3:NM_174975:exon10:c.G808C:p.V270L,SEC14L3:NM_001257379:exon11:c.G631C:p.V211L,SEC14L3:NM_001257382:exon11:c.G631C:p.V211L,SEC14L3:NM_001376914:exon11:c.G631C:p.V211L,SEC14L3:NM_001257378:exon12:c.G577C:p.V193L	.	432	1080	10	0	0	10	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	.	0.0100	0.0091853	0.0039	0.0272	0.0037	0	0	0.0021	0.0049	0.0002	0.0037386	578	154602	rs114917409	0.0022	0.0022	0.0023	0.0021	0.0289	0.0021	0.0021	0.0274	0.0267	0.0289	0.0048	0.0100	0	7.531e-05	0.0148	0.0012	0.0057	0.0002	0.0088	0.0088	0.0092	0.0083	0.0255	0.0084	0.0082	0.0242	0.0237	0.0255	0	0.0091	0.0118	0	0	0.0170	0.0011	0.0080	0	0.849	0.02746	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000001	0.62929	D	0.057245	0.999998	0.58761	D	-0.345	0.03330	N	0.31	0.58613	T	-0.56	0.17003	N	0.735	0.73555	-1.0491	0.14649	T	0.027	0.11663	T	10	0.008301944	0.00188	T	.	.	.	0.078	0.22779	0.492	0.57890	0.51880533489	0.51525	0.354047608614421	0.35318	0.124429324764	0.14008	0.551303803921	0.46041	T	0.007573	0.06968	T	-0.481758	0.00722	T	-0.445192	0.28229	T	0.00762017556866538	0.00089	T	0.814719	0.46890	T	0.2970276	0.52636	0.16573685	0.38325	0.2970276	0.52636	0.16573685	0.38324	-0.98	0.00978	T	.	.	0.191	0.40968	B	.;.;.;.;.	.;.;.;.;.	2.013231	0.25586	16.81	0.98109927242421657	0.38343	0.98818	0.87255	D	AEFBI	0.497750	0.53214	N	-0.310653764955379	0.28743	1.587896	-0.0307619325477468	0.38332	2.256919	0.999765746221878	0.42728	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.95	4.94	0.64645	3.799000	0.55233	-0.292000	0.10184	0.599000	0.40250	0.998000	0.41325	0.000000	0.08366	0.928000	0.46473	0.0:0.8644:0.0:0.1356	11.570	0.50083	339	0.86048	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.030211	0.085859	0.046196	0.017544	0.050000	0.008621	0.006098	0.003788	0.07143	698.83	38	chr22	30461658	.	C	G	698.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.1;DP=286;ExcessHet=0;FS=8.116;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=-1.952;SOR=1.591	GT:AD:DP:GQ:PL	0/1:53,28:81:99:709,0,1311	6	0	1	0
chr22	30942246	30942246	T	C	exonic	MORC2	.	nonsynonymous SNV	MORC2:NM_001303256:exon7:c.A452G:p.N151S,MORC2:NM_001303257:exon7:c.A452G:p.N151S,MORC2:NM_014941:exon8:c.A266G:p.N89S	Charcot-Marie-Tooth disease, axonal, type 2Z, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.00531985814663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.192	0.20988	T	0.831	0.03706	T	0.625	0.40054	P	0.412	0.44859	B	0.000000	0.84330	D	0.044808	0.999897	0.50595	D	0.075	0.08292	N	2.72	0.12055	T	-1.5	0.40468	N	0.257	0.29081	-0.9837	0.34140	T	0.028	0.11882	T	10	0.24544722	0.41792	T	0.00532	0.13618	T	0.198	0.48105	0.347	0.34274	0.29893580763	0.29502	0.6420353445718011	0.64138	0.780703799402	0.65281	0.47560185194	0.35452	T	0.286107	0.65889	T	-0.261735	0.12697	T	-0.613741	0.11684	T	0.577276468276978	0.35514	D	0.755224	0.37818	T	0.23842262	0.46720	0.16112791	0.37495	0.23842262	0.46720	0.16112791	0.37495	-5.937	0.45749	T	0.1721239701419043	0.21735	0.093	0.14293	B	.;.	.;.	3.432015	0.47700	22.5	0.95923980403326381	0.28195	0.99663	0.98459	D	AEFBI	0.868327	0.78841	D	0.223561015791869	0.52343	3.409044	0.378533911314032	0.60244	4.20979	0.999999915080526	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	7.671000	0.82936	1.867000	0.29361	0.663000	0.56723	1.000000	0.71638	0.998000	0.33993	0.992000	0.67800	0.0:0.0:0.0:1.0	15.826	0.78484	641	0.64016	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	547.63	28	chr22	30942246	.	T	C	547.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.61;DP=223;ExcessHet=0;FS=2.511;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-0.572;SOR=0.33	GT:AD:DP:GQ:PL	0/1:32,23:55:99:558,0,887	6	0	1	0
chr22	31096830	31096830	C	G	exonic	SMTN	.	nonsynonymous SNV	SMTN:NM_001207018:exon13:c.C2127G:p.H709Q,SMTN:NM_001382640:exon14:c.C1959G:p.H653Q,SMTN:NM_001382646:exon14:c.C1959G:p.H653Q,SMTN:NM_006932:exon14:c.C1959G:p.H653Q,SMTN:NM_134269:exon14:c.C1959G:p.H653Q,SMTN:NM_134270:exon14:c.C1959G:p.H653Q,SMTN:NM_001207017:exon15:c.C2214G:p.H738Q,SMTN:NM_001382641:exon15:c.C1959G:p.H653Q,SMTN:NM_001382644:exon15:c.C2121G:p.H707Q,SMTN:NM_001382648:exon15:c.C933G:p.H311Q,SMTN:NM_001382638:exon16:c.C1959G:p.H653Q,SMTN:NM_001382639:exon16:c.C1959G:p.H653Q,SMTN:NM_001382642:exon16:c.C2241G:p.H747Q,SMTN:NM_001382645:exon16:c.C2052G:p.H684Q,SMTN:NM_001382643:exon17:c.C2121G:p.H707Q	.	403	1113	5	1	0	7	0.0031348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0298225903156	.	0.00139776	0.0009	0	0.0003	0	0	0.0003	0	0.0077	0.0008473	131	154602	rs200403667	0.0006	0.0006	0.0003	0.0009	0.0084	0.0006	0.0006	0.0079	0.0077	9.161e-05	0.0001	0	0	0	0.0057	9.725e-05	0.0006	0.0084	0.0004	0.0004	0.0003	0.0006	0.0091	0.0003	0.0003	0.0070	0.0062	0	0	0.0003	0	0	0	0.0034	0.0002	0.0009	0.0091	0.52	0.07259	T	1.0	0.02371	T	0.349	0.33622	B	0.097	0.33210	B	0.001896	0.37740	N	0.000000	0.926147	0.81001	D	0.695	0.17993	N	0.36	0.63911	T	-0.15	0.09297	N	0.245	0.33250	-1.0316	0.19937	T	0.070	0.28642	T	10	0.0052761734	0.00115	T	0.029823	0.52262	D	0.091	0.26358	0.144	0.04746	0.147330786459	0.14319	0.38785746747977096	0.38700	0.171971209939	0.19365	0.608809888363	0.54148	T	0.049196	0.28237	T	-0.475637	0.00785	T	-0.452689	0.27400	T	0.0277066118543751	0.01645	T	0.691131	0.31206	T	0.073355384	0.16386	0.05414864	0.09258	0.073355384	0.16386	0.05414864	0.09257	-6.112	0.47207	T	.	.	0.127	0.39116	B	.;.;.;.;.	.;.;.;.;.	1.866783	0.23715	16.12	0.87945878019854984	0.17600	0.52825	0.29224	D	AEFBI	0.184514	0.31184	N	-0.363713838557764	0.26771	1.463638	-0.177551880434253	0.32364	1.840537	0.99999963265305	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.779548	0.98927	0	0.711	0.71501	0	.	.	4.51	3.38	0.37806	2.251000	0.42840	0.665000	0.20538	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.983000	0.59808	0.0:0.5427:0.4573:0.0	11.652	0.50553	632	0.64850	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.010101	0.000000	0.002924	0.000000	0.034483	0.006098	0.000000	0.07143	1319.44	33	chr22	31096830	.	C	G	1319.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.707;DP=299;ExcessHet=0;FS=1.445;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-0.355;SOR=0.836	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1262	6	0	1	0
chr22	31126004	31126004	G	T	exonic	INPP5J	.	nonsynonymous SNV	INPP5J:NM_001284285:exon2:c.G1265T:p.G422V,INPP5J:NM_001284286:exon3:c.G1064T:p.G355V,INPP5J:NM_001284288:exon3:c.G164T:p.G55V,INPP5J:NM_001284289:exon4:c.G164T:p.G55V	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.602	0.668935519461	.	.	0.0008	0.0001	9.051e-05	0	0.0065	0.0006	0.0052	9.448e-05	0.0005563	86	154602	rs769991803	0.0004	0.0004	0.0004	0.0004	0.0005	0.0003	0.0003	0.0002	0.0002	0	0.0001	0	0	0.0060	0.0005	0.0002	0.0005	0.0001	0.0006	0.0006	0.0004	0.0008	0.0002	0.0005	0.0005	0.0001	9.899e-05	4.813e-05	0	0.0002	0	0	0.0066	0	0.0002	0.0009	0	0.003	0.72154	D	0.111	0.37173	T	1.0	0.90584	D	0.998	0.88582	D	0.083697	0.20739	N	0.502361	0.999998	0.81001	D	1.75	0.45442	L	-3.71	0.95387	D	-1.11	0.30346	N	0.598	0.64223	1.011	0.97377	D	0.918	0.97274	D	9	0.011331558	0.00248	T	0.668936	0.97234	D	0.602	0.84291	.	.	0.926601714798	0.92585	0.7253400777617266	0.72478	.	.	0.479367613792	0.35969	T	0.026992	0.19862	T	0.113003	0.65661	D	0.242617	0.85272	D	0.0437805722068796	0.04381	T	0.79842	0.44325	T	0.22042225	0.44597	0.19506148	0.43162	0.22042225	0.44597	0.19506148	0.43161	-8.611	0.65162	D	.	.	0.223	0.50204	B	.;.;.;.	.;.;.;.	4.798661	0.77943	26.8	0.9937660487851776	0.61671	0.94903	0.62730	D	AEFDBI	0.529243	0.55043	D	0.493508569699589	0.66709	4.985403	0.451989692661557	0.64844	4.749236	0.999998803322136	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	4.67	4.67	0.58089	2.746000	0.47143	11.651000	0.93884	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	14.677	0.68598	624	0.65661	Inositol polyphosphate-related phosphatase;Inositol polyphosphate-related phosphatase;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	623.49	28	chr22	31126004	.	G	T	623.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.82;DP=245;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.275;SOR=0.732	GT:AD:DP:GQ:PL	0/1:27,25:52:99:634,0,694	6	0	1	0
chr22	31134097	31134097	G	A	exonic	INPP5J	.	nonsynonymous SNV	INPP5J:NM_001284287:exon12:c.G1394A:p.R465Q,INPP5J:NM_001002837:exon13:c.G1595A:p.R532Q,INPP5J:NM_001284285:exon13:c.G2699A:p.R900Q,INPP5J:NM_001284286:exon14:c.G2498A:p.R833Q,INPP5J:NM_001284288:exon14:c.G1598A:p.R533Q,INPP5J:NM_001284289:exon15:c.G1598A:p.R533Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.20577828887	.	0.000399361	0.0008	0	0	0	0	0.0001	0	0.0019	0.0002587	40	154602	rs372064167	0.0001	0.0002	9.562e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	3.147e-05	0.0002	0	0	0	0	3.416e-05	0.0003	0.0018	0.0001	0.0001	8.992e-05	0.0001	0.0010	6.506e-05	5.318e-05	0.0004	0.0003	0.0001	0	0	0	0	0	0	7.35e-05	0	0.0010	0.009	0.61437	D	0.28	0.34477	T	0.149	0.27956	B	0.008	0.18783	B	0.016588	0.27938	N	0.250143	1	0.08975	N	1.245	0.31408	L	-4.59	0.98809	D	-0.64	0.18877	N	0.134	0.16586	0.465	0.90047	D	0.845	0.94826	D	10	0.012274295	0.00264	T	0.205778	0.87004	D	0.203	0.48915	.	.	0.804154578487	0.80232	0.25143686285038436	0.25057	0.200669092931	0.22463	0.609858989716	0.54296	T	0.012075	0.14121	T	-0.289038	0.09733	T	-0.201189	0.54533	T	0.0284037510654946	0.01747	T	0.838216	0.53103	T	0.067666836	0.14674	0.0556247	0.09793	0.067666836	0.14673	0.0556247	0.09793	-6.882	0.58645	T	.	.	0.103	0.21840	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.641209	0.51624	23.1	0.99831074739192305	0.91284	0.81775	0.41112	D	AEFDI	0.172012	0.29902	N	-0.241216988608622	0.31456	1.763955	-0.0932456094746002	0.35669	2.066335	0.997462355769343	0.35646	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.586402	0.36253	0	.	.	5.54	3.38	0.37806	2.747000	0.47151	6.586000	0.56011	0.676000	0.76740	0.655000	0.28216	1.000000	0.68203	0.970000	0.54328	0.1429:0.1287:0.7284:0.0	8.160	0.30352	624	0.65661	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1387.49	27	chr22	31134097	.	G	A	1387.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.43;DP=265;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.13;ReadPosRankSum=0.228;SOR=0.627	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1209	6	0	1	0
chr22	31140088	31140088	A	T	exonic	PLA2G3	.	nonsynonymous SNV	PLA2G3:NM_015715:exon1:c.T267A:p.H89Q	.	247	1243	27	5	0	37	0.0146651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0042	0.00519169	0.0065	0.0013	0.0020	0.0027	0.0008	0.0066	0.0066	0.0170	0.0060866	941	154602	rs55984643	0.0067	0.0067	0.0064	0.0070	0.0160	0.0066	0.0065	0.0153	0.0150	0.0010	0.0025	0.0049	0.0024	0.0016	0.0136	0.0067	0.0073	0.0160	0.0040	0.0040	0.0042	0.0038	0.0137	0.0037	0.0036	0.0110	0.0101	0.0008	0	0.0021	0.0052	0.0025	0.0012	0.0034	0.0062	0.0038	0.0137	0.473	0.08408	T	0.528	0.10173	T	0.011	0.15914	B	0.003	0.08700	B	0.542083	0.11525	N	0.811223	0.999997	0.08975	N	1.15	0.29295	L	2.91	0.10008	T	-1.48	0.36189	N	0.1	0.08227	-0.9510	0.40799	T	0.010	0.03856	T	10	0.003170222	0.00053	T	.	.	.	0.024	0.04979	0.256	0.19689	0.0846915920261	0.08053	0.20376811032185027	0.20293	0.0691369018457	0.07735	0.280050009489	0.07499	T	0.024555	0.18532	T	-0.679377	0.00048	T	-0.735029	0.04102	T	0.000639412999052918	0.00006	T	0.285571	0.05082	T	0.048105877	0.08330	0.08347583	0.19133	0.048105877	0.08330	0.08347583	0.19133	-2.368	0.04940	T	.	.	0.083	0.09336	B	.	.	-0.908583	0.00912	0.034	0.48977307495182992	0.04132	0.06914	0.12939	N	AEFDBCI	0.054706	0.09970	N	-1.39168245620973	0.02715	0.1202966	-1.44971714329186	0.02772	0.1281381	0.999999117941641	0.74766	0.59774	0.34471	0	0.547309	0.14657	0	0.52208	0.10781	0	0.63947	0.58350	0	.	.	5.69	-5.44	0.02419	-0.398000	0.07320	-1.564000	0.05161	-0.092000	0.16129	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.2343:0.4697:0.2961:0.0	7.825	0.28469	624	0.65661	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010070	0.000000	0.001359	0.026316	0.000000	0.017241	0.006098	0.015152	0.07143	429.83	43	chr22	31140088	.	A	T	429.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2;DP=215;ExcessHet=0;FS=4.546;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=1.48;SOR=1.461	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,107,1537	6	0	1	0
chr22	31440717	31440717	C	G	exonic	EIF4ENIF1	.	nonsynonymous SNV	EIF4ENIF1:NM_001164502:exon16:c.G2181C:p.Q727H,EIF4ENIF1:NM_001164501:exon18:c.G2703C:p.Q901H,EIF4ENIF1:NM_019843:exon18:c.G2703C:p.Q901H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.00895403050196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.379	0.24406	T	0.996	0.68779	D	0.804	0.58350	P	0.000049	0.53742	D	0.170087	0.990226	0.41113	D	1.545	0.39105	L	.	.	.	-1.96	0.50666	N	0.47	0.50598	-0.8159	0.54189	T	0.179	0.52473	T	9	0.23797363	0.40909	T	0.008954	0.23583	T	0.145	0.38592	0.124	0.03018	0.360112713275	0.35619	0.6317114892263826	0.63105	0.135090078654	0.15230	0.71043586731	0.68656	T	0.271077	0.64338	T	-0.052383	0.44085	T	-0.313021	0.43334	T	0.824620842933655	0.48118	D	0.817618	0.47476	T	0.16409469	0.36594	0.13078603	0.31418	0.16409469	0.36593	0.13078603	0.31417	-7.197	0.56408	T	.	.	0.197	0.46859	B	.;.;.;.	.;.;.;.	2.841274	0.37485	20.5	0.99448086615906761	0.65122	0.71369	0.34983	D	AEFGBCI	0.187626	0.31492	N	0.0800753109227662	0.45534	2.808313	0.125676690970636	0.45867	2.842314	0.444027944731644	0.20478	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.89	2.55	0.29757	-0.183000	0.09707	1.717000	0.28234	0.599000	0.40250	0.817000	0.29947	1.000000	0.68203	0.999000	0.91618	0.2674:0.5892:0.0:0.1435	5.859	0.17986	496	0.76301	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1467.45	34	chr22	31440717	.	C	G	1467.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.293;DP=311;ExcessHet=0;FS=0.671;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-1.099;SOR=0.584	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1211	6	0	1	0
chr22	31443026	31443026	C	A	exonic	EIF4ENIF1	.	nonsynonymous SNV	EIF4ENIF1:NM_001164502:exon14:c.G1620T:p.E540D,EIF4ENIF1:NM_001164501:exon16:c.G2142T:p.E714D,EIF4ENIF1:NM_019843:exon16:c.G2142T:p.E714D	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.00159775085475	.	.	0.0002	0	0	0	0	0	0	0.0013	0.0001358	21	154602	rs753462432	4.994e-05	4.994e-05	2.178e-05	7.838e-05	0.0008	4.059e-05	3.734e-05	0.0006	0.0006	0	0	0	0	0	0	8.993e-07	0.0001	0.0008	1.314e-05	1.313e-05	2.57e-05	0	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	0.612	0.08188	T	1.0	0.01155	T	0.015	0.24734	B	0.01	0.18489	B	0.000000	0.84330	D	0.046853	0.993471	0.41951	D	0.59	0.15444	N	.	.	.	0.62	0.04091	N	0.115	0.10626	-1.0686	0.09723	T	0.082	0.32266	T	9	0.01488629	0.00313	T	0.001598	0.02574	T	0.214	0.50650	0.212	0.13066	0.189391138174	0.18552	0.07636809787834355	0.07572	0.584731077447	0.54139	0.447757363319	0.31637	T	0.094977	0.39526	T	-0.499769	0.00573	T	-0.551258	0.17205	T	0.0618180138145308	0.07453	T	0.915408	0.69775	D	0.099584684	0.23503	0.07910807	0.17778	0.099584684	0.23503	0.07910807	0.17778	-4.79	0.34475	T	.	.	0.092	0.13550	B	.;.;.;.	.;.;.;.	1.733944	0.22065	15.47	0.98165476595324963	0.38814	0.72626	0.35542	D	AEFDBCI	0.108541	0.21589	N	-0.32583230812331	0.28171	1.551575	-0.129530088549592	0.34206	1.964993	0.677947489057443	0.22446	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.77	3.65	0.40985	0.453000	0.21523	0.328000	0.17254	0.599000	0.40250	0.997000	0.40164	0.990000	0.31317	0.998000	0.85391	0.1342:0.7226:0.0:0.1432	7.675	0.27645	429	0.80881	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	918.46	36	chr22	31443026	.	C	A	918.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.077;DP=256;ExcessHet=0;FS=2.009;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-0.387;SOR=1.075	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1204	6	0	1	0
chr22	31621364	31621364	T	C	exonic	PISD	.	nonsynonymous SNV	PISD:NM_001326418:exon4:c.A487G:p.M163V,PISD:NM_001326420:exon4:c.A487G:p.M163V,PISD:NM_001326411:exon5:c.A667G:p.M223V,PISD:NM_001326412:exon5:c.A604G:p.M202V,PISD:NM_001326413:exon5:c.A604G:p.M202V,PISD:NM_001326421:exon5:c.A667G:p.M223V,PISD:NM_178022:exon5:c.A565G:p.M189V,PISD:NM_001326414:exon6:c.A604G:p.M202V,PISD:NM_001326415:exon6:c.A565G:p.M189V,PISD:NM_014338:exon6:c.A565G:p.M189V,PISD:NM_001326417:exon7:c.A565G:p.M189V,PISD:NM_001326419:exon7:c.A565G:p.M189V,PISD:NM_001326416:exon8:c.A565G:p.M189V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0024506238185	0.0002	0.000199681	5.77e-05	0	0	0	0	6e-05	0	0.0002	5.17e-05	8	154602	rs143378500	4.515e-05	4.515e-05	4.22e-05	4.813e-05	0.0010	3.641e-05	3.322e-05	0.0005	0.0003	0	4.472e-05	0.0007	0	0	0.0010	2.068e-05	0.0001	0.0001	3.284e-05	3.281e-05	2.57e-05	4.03e-05	0.0002	1.26e-05	7.98e-06	4.88e-06	1.83e-06	0	0	0	0.0006	0	0	0	2.941e-05	0	0.0002	0.502	0.13349	T	0.358	0.18675	T	0.0	0.02946	B	0.005	0.11217	B	0.018370	0.27499	N	0.426424	1	0.08975	N	-0.28	0.03718	N	.	.	.	0.06	0.06253	N	0.118	0.10769	-0.9953	0.31218	T	0.032	0.13811	T	9	0.014630556	0.00307	T	0.002451	0.04840	T	0.015	0.02232	.	.	0.117191471859	0.11215	0.12038189392100544	0.11965	0.304447295284	0.32750	0.339252829552	0.16326	T	0.002577	0.33183	T	-0.298849	0.08770	T	-0.464398	0.26123	T	0.0167937160221627	0.00434	T	0.125887	0.01092	T	0.043067172	0.06646	0.039698876	0.04121	0.043067172	0.06646	0.039698876	0.04121	-0.148	0.00442	T	0.07568659834436826	0.03392	0.058	0.01271	B	.;.;.;.;.	.;.;.;.;.	0.258786	0.06375	2.839	0.55455360542121979	0.05346	0.22725	0.21842	N	AEFDBHCI	0.117688	0.23043	N	-1.3521908223758	0.03102	0.1380443	-1.29166721957775	0.04542	0.2144981	0.999954608521251	0.48110	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.47	0.822	0.17944	0.749000	0.25985	-0.071000	0.12298	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.291000	0.24285	0.0:0.2807:0.0:0.7193	9.533	0.38370	118	0.95237	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	742.46	26	chr22	31621364	.	T	C	742.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.96;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.853;SOR=0.693	GT:AD:DP:GQ:PL	0/1:32,30:62:99:753,0,698	6	0	1	0
chr22	31712926	31712926	C	T	exonic	PRR14L	.	nonsynonymous SNV	PRR14L:NM_173566:exon4:c.G4913A:p.R1638Q	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0307662681601	.	.	9.181e-05	0	0	0.0016	0	0	0	0.0001	1.29e-05	2	154602	rs745490244	5.43e-05	5.199e-05	6.062e-05	4.781e-05	0.0018	4.348e-05	4.061e-05	0.0014	0.0013	0	2.8e-05	0	0.0018	0	0	4.634e-06	3.445e-05	6.31e-05	3.287e-05	3.284e-05	1.285e-05	5.382e-05	0.0008	1.261e-05	7.98e-06	0.0003	0.0002	2.414e-05	0	0	0	0.0008	0	0	0	0	0	0.205	0.20002	T	0.354	0.17268	T	0.012	0.16265	B	0.003	0.08700	B	0.954674	0.07678	N	1.024750	1	0.08975	N	0.205	0.09354	N	3.3	0.06368	T	-0.78	0.21644	N	0.086	0.06322	-0.9143	0.46311	T	0.010	0.03537	T	9	0.009236991	0.00209	T	0.030766	0.53006	D	0.031	0.07369	.	.	0.0675242888579	0.06100	0.05202855187134174	0.05144	0.0765561558212	0.08593	0.185502782464	0.00155	T	0.005656	0.05109	T	-0.594791	0.00157	T	-0.72456	0.04578	T	0.00943921327210801	0.00121	T	0.645335	0.25688	T	0.02045813	0.00605	0.03097092	0.01622	0.02045813	0.00604	0.03097092	0.01622	-4.269	0.27740	T	.	.	0.074	0.05231	B	.	.	0.785742	0.11562	8.154	0.80617976664165958	0.13288	0.06330	0.12327	N	AEFDBI	0.036541	0.04886	N	-1.40837931060107	0.02565	0.1134145	-1.43099306026649	0.02946	0.1365312	0.910627228408119	0.26344	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.37	-5.29	0.02535	-0.195000	0.09546	-1.228000	0.05968	-0.985000	0.01878	0.284000	0.25178	0.000000	0.08366	0.854000	0.40426	0.1263:0.1933:0.1122:0.5681	3.837	0.08409	154	0.93967	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1161.63	34	chr22	31712926	.	C	T	1161.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.882;DP=243;ExcessHet=0;FS=2.599;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.38;ReadPosRankSum=-1.169;SOR=0.524	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,117,1211	6	0	1	0
chr22	31713727	31713727	T	C	exonic	PRR14L	.	nonsynonymous SNV	PRR14L:NM_173566:exon4:c.A4112G:p.N1371S	.	437	1070	14	1	0	16	0.00742115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0331460710436	.	0.00119808	0.0019	0	0	0	0	0.0002	0.0039	0.0052	0.0003622	56	154602	rs559005586	0.0004	0.0004	0.0003	0.0006	0.0056	0.0004	0.0004	0.0051	0.0050	0.0003	2.8e-05	0	0	0	0.0007	0.0001	0.0005	0.0056	0.0003	0.0003	0.0002	0.0004	0.0048	0.0002	0.0002	0.0033	0.0028	4.811e-05	0	0.0002	0	0	0	0	0.0003	0	0.0048	0.075	0.34444	T	0.137	0.33894	T	0.002	0.09854	B	0.004	0.10090	B	0.319727	0.04067	N	1.503240	1	0.08975	N	0.69	0.16971	N	3.45	0.05311	T	-0.12	0.08809	N	0.039	0.01274	-0.9462	0.41615	T	0.013	0.05273	T	9	0.005148381	0.00112	T	0.033146	0.54776	D	0.012	0.01476	.	.	0.043077524339	0.03247	0.0290149774597085	0.02850	0.0572534448116	0.06337	0.226922228932	0.01748	T	0.002683	0.02075	T	-0.70467	0.00034	T	-0.782513	0.02378	T	0.0139063692253939	0.00265	T	0.719828	0.33277	T	0.043591384	0.06821	0.041604184	0.04765	0.043591384	0.06821	0.041604184	0.04765	-2.619	0.06649	T	.	.	0.083	0.09191	B	.	.	-0.000845	0.04276	1.068	0.54009869535458432	0.05052	0.20884	0.21203	N	AEFBI	0.069667	0.13799	N	-0.985746242437867	0.08907	0.4194767	-1.01311979404215	0.09496	0.4727832	0.0404620747673147	0.14441	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.53	0.901	0.18416	0.479000	0.21938	-1.391000	0.05549	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.1851:0.1574:0.6574	4.864	0.12960	155	0.93937	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001238	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.07143	1708.44	142	chr22	31713727	.	T	C	1708.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.09;DP=346;ExcessHet=0;FS=2.118;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=0.311;SOR=0.562	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,117,1211	6	0	1	0
chr22	31715929	31715929	C	A	exonic	PRR14L	.	nonsynonymous SNV	PRR14L:NM_173566:exon4:c.G1910T:p.C637F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0279922426613	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	0.09264	T	0.685	0.06014	T	0.85	0.46913	P	0.325	0.41883	B	0.603263	0.10938	N	0.798245	1	0.08975	N	0.805	0.20218	L	3.35	0.05989	T	-2.37	0.52289	N	0.206	0.22870	-1.0804	0.07272	T	0.016	0.06569	T	9	0.10416326	0.19189	T	0.027992	0.50729	D	0.102	0.29158	0.526	0.63115	0.043077524339	0.03247	0.07517504430761483	0.07453	0.144073809953	0.16265	0.256230115891	0.04452	T	0.036918	0.24283	T	-0.253759	0.13640	T	-0.602284	0.12620	T	0.180756588116877	0.19282	T	0.59464	0.22023	T	0.13919486	0.32163	0.120248936	0.29021	0.13919486	0.32163	0.120248936	0.29021	-3.53	0.16854	T	.	.	0.087	0.11317	B	.	.	-0.380705	0.02285	0.239	0.59705536658378744	0.06287	0.09699	0.15396	N	AEFDBCI	0.099230	0.19978	N	-0.650719047044948	0.17440	0.8974071	-0.845087023949013	0.13405	0.6952512	0.992074189097361	0.32709	0.722319	0.85440	0	0.724815	0.89359	0	0.575934	0.27490	0	0.735409	0.98432	0	.	.	5.4	-5.88	0.02100	-1.229000	0.03054	-2.280000	0.03957	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.939000	0.47918	0.0:0.3467:0.3285:0.3248	6.626	0.22024	155	0.93937	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1746.44	37	chr22	31715929	.	C	A	1746.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.341;DP=347;ExcessHet=0;FS=0.608;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.298;SOR=0.77	GT:AD:DP:GQ:PL	0/1:79,69:148:99:1757,0,2048	6	0	1	0
chr22	32513774	32513774	C	G	exonic	SYN3	.	nonsynonymous SNV	SYN3:NM_001135774:exon14:c.G1658C:p.R553P,SYN3:NM_001369907:exon14:c.G1661C:p.R554P,SYN3:NM_001369908:exon14:c.G1661C:p.R554P,SYN3:NM_001369909:exon14:c.G1658C:p.R553P,SYN3:NM_001369910:exon14:c.G1658C:p.R553P,SYN3:NM_003490:exon14:c.G1661C:p.R554P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0466886162577	0.0002	0.000399361	0.0001	0	0.0002	0	0	0.0002	0.0011	0	0.0001488	23	154602	rs148792587	0.0002	0.0002	0.0003	0.0002	0.0024	0.0002	0.0002	0.0015	0.0012	2.987e-05	0.0002	0	0	0	0.0024	0.0003	0.0002	0	0.0002	0.0002	0.0002	0.0002	0.0011	0.0001	0.0001	0.0007	0.0006	4.813e-05	0	0.0011	0	0	0	0	0.0001	0.0009	0	0.002	0.72154	D	0.054	0.53426	T	0.8	0.44988	P	0.476	0.46961	P	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	1.585	0.39878	L	0.95	0.43279	T	-1.78	0.42001	N	0.451	0.48872	-0.8829	0.49529	T	0.148	0.47469	T	10	0.08215675	0.13530	T	0.046689	0.62573	D	0.158	0.41098	.	.	0.28494636882	0.28116	0.40205090088317225	0.40121	0.915908359792	0.71240	0.360167086124	0.19410	T	0.286641	0.65943	T	-0.121596	0.32861	T	-0.133005	0.60719	T	0.191374108195305	0.19925	T	0.737626	0.36288	T	0.51283574	0.67845	0.5857849	0.75978	0.51283574	0.67846	0.5857849	0.75979	-0.664	0.00694	T	.	.	0.117	0.35890	B	.;.	.;.	4.255745	0.64637	24.7	0.99634064963183711	0.76203	0.93873	0.59438	D	AEFBI	0.828468	0.74755	D	0.244864137220757	0.53385	3.507629	0.239438223703878	0.52051	3.382648	0.999946599906621	0.47345	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.41	4.4	0.52402	2.520000	0.45215	3.201000	0.36751	0.599000	0.40250	0.995000	0.38783	0.998000	0.33993	0.914000	0.44937	0.0:0.9281:0.0:0.0719	14.231	0.65434	615	0.66512	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.1429	2222.44	34	chr22	32513774	.	C	G	2222.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.95;DP=378;ExcessHet=0.3476;FS=0.489;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=1.5;SOR=0.737	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1448	5	0	2	0
chr22	32859360	32859360	A	G	exonic	TIMP3	.	nonsynonymous SNV	TIMP3:NM_000362:exon5:c.A619G:p.N207D	Sorsby fundus dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.371	0.0783703597073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.743	0.43037	P	0.225	0.38015	B	0.000334	0.45700	D	0.217153	1	0.81001	D	0.675	0.16386	N	-3.27	0.93640	D	1.84	0.00489	N	0.55	0.57604	-0.1986	0.77707	T	0.469	0.79551	T	10	0.4404115	0.58065	T	0.07837	0.72989	D	0.371	0.69016	0.434	0.48500	0.988365501475	0.98824	0.7080911960867787	0.70751	2.08813347033	0.94690	0.711563706398	0.68819	T	0.18809	0.54189	T	0.0165114	0.53910	T	-0.214059	0.53306	T	0.895162761211395	0.54667	D	0.806819	0.45619	T	0.08042395	0.18428	0.098040715	0.23359	0.08042395	0.18427	0.098040715	0.23359	-4.089	0.25128	T	.	.	0.379	0.58387	A	.	.	3.136924	0.42413	21.5	0.90233546813868637	0.19506	0.96823	0.71131	D	AEFDBCI	0.952361	0.96774	D	-0.212604054962369	0.32616	1.841335	-0.10660235350873	0.35122	2.028307	0.999906092196683	0.45458	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	3.91	2.85	0.32333	7.298000	0.78152	11.226000	0.89934	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.8416:0.0:0.0:0.1584	9.494	0.38143	833	0.38804	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	964.53	33	chr22	32859360	.	A	G	964.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.831;DP=249;ExcessHet=0;FS=1.973;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-1.874;SOR=0.474	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1190	6	0	1	0
chr22	35658950	35658950	C	T	exonic	APOL6	.	nonsynonymous SNV	APOL6:NM_030641:exon3:c.C386T:p.T129M	.	429	1083	9	1	0	11	0.00505282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00173868611002	0.0017	0.000599042	0.0011	0.0003	0.0012	0	0	0.0018	0.0022	0.0001	0.0010284	159	154602	rs148655812	0.0009	0.0009	0.0009	0.0009	0.0035	0.0009	0.0009	0.0023	0.0019	0.0003	0.0016	0.0156	2.52e-05	0	0.0035	0.0006	0.0017	0.0002	0.0011	0.0011	0.0011	0.0010	0.0012	0.0009	0.0009	0.0008	0.0008	0.0001	0	0.0012	0.0179	0	0	0.0034	0.0010	0.0028	0.0002	0.4	0.10482	T	0.475	0.12072	T	0.005	0.12996	B	0.004	0.10090	B	0.098321	0.02523	N	1.875430	1	0.08975	N	-0.75	0.01730	N	3.93	0.03435	T	1.88	0.00467	N	0.039	0.01274	-0.9564	0.39843	T	0.006	0.02131	T	10	0.00320673	0.00054	T	0.001739	0.02934	T	0.030	0.07022	.	.	0.141422826196	0.13715	0.34514354692216964	0.34428	0.170673729105	0.19233	0.270285248756	0.06178	T	0.01532	0.12876	T	-0.654822	0.00068	T	-0.743462	0.03746	T	0.000962655513190271	0.00009	T	0.333467	0.07063	T	0.010551167	0.00008	0.02241543	0.00267	0.010551167	0.00008	0.02241543	0.00266	-3.682	0.19052	T	.	.	0.074	0.05145	B	.	.	0.028372	0.04481	1.194	0.21632141578199093	0.00833	0.00032	0.00291	N	AEFBI	0.021000	0.00888	N	-1.29591003158858	0.03724	0.1668809	-1.25546395137915	0.05050	0.2397411	0.992659981300732	0.32919	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.14	1.99	0.25423	0.576000	0.23446	-0.580000	0.08381	-0.701000	0.04053	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3091:0.0:0.6909	6.309	0.20362	671	0.60868	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.005051	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1099.49	88	chr22	35658950	.	C	T	1099.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.16;DP=266;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.154;SOR=0.61	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1198	6	0	1	0
chr22	36141727	36141727	C	T	exonic	APOL3	.	nonsynonymous SNV	APOL3:NM_145640:exon3:c.G682A:p.A228T,APOL3:NM_014349:exon4:c.G469A:p.A157T,APOL3:NM_145639:exon4:c.G469A:p.A157T,APOL3:NM_145642:exon4:c.G82A:p.A28T,APOL3:NM_030644:exon5:c.G469A:p.A157T,APOL3:NM_145641:exon5:c.G82A:p.A28T	.	420	1018	81	3	0	87	0.0409797	.	.	.	705913	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.074	.	0.0016	0.00479233	0.0070	0.0008	0.0023	0	0.0005	0.0038	0.0133	0.0327	0.0061254	947	154602	rs142057520	0.0045	0.0045	0.0036	0.0055	0.0304	0.0044	0.0044	0.0294	0.0290	0.0005	0.0032	0.0141	7.558e-05	0.0003	0.0213	0.0026	0.0063	0.0304	0.0032	0.0032	0.0029	0.0036	0.0284	0.0030	0.0029	0.0245	0.0231	0.0005	0.0066	0.0036	0.0092	0	0.0005	0.0238	0.0031	0.0071	0.0284	0.169	0.22920	T	0.417	0.14241	T	0.788	0.44546	P	0.397	0.44399	B	0.363263	0.13638	N	0.721939	1	0.08975	N	0.565	0.15224	N	3.77	0.03863	T	-1.02	0.46503	N	0.096	0.07673	-0.8850	0.49357	T	0.005	0.01725	T	10	0.0064413548	0.00146	T	.	.	.	0.074	0.21613	.	.	0.132336055621	0.12781	0.2831281995449334	0.28225	0.165414910226	0.18654	0.269489645958	0.06074	T	0.00967	0.08788	T	-0.61773	0.00114	T	-0.637106	0.09882	T	0.00338090782887009	0.00036	T	0.429857	0.18668	T	0.05087492	0.09258	0.053812385	0.09136	0.05087492	0.09257	0.053812385	0.09136	-5.036	0.42379	T	.	.	0.093	0.24396	B	.;.;.;.;.	.;.;.;.;.	-1.301766	0.00437	0.009	0.79448850851242914	0.12746	0.01032	0.03867	N	AEFDGBI	0.058757	0.11046	N	-1.11327166648079	0.06406	0.2947806	-1.19366562473892	0.06015	0.2882774	0.926062391168158	0.26838	0.67177	0.52595	0	0.702456	0.74545	0	0.491513	0.07944	0	0.635551	0.53088	0	.	.	4.3	-0.313	0.12121	-1.049000	0.03625	-15.654000	0.00347	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6561:0.0:0.3439	8.410	0.31799	507	0.75469	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.019134	0.000000	0.013587	0.023392	0.050000	0.043103	0.024390	0.041667	0.07143	1994.45	44	chr22	36141727	.	C	T	1994.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.135;DP=455;ExcessHet=0;FS=5.275;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=0.311;SOR=0.537	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1250	6	0	1	0
chr22	36160788	36160788	C	A	exonic	APOL3	.	nonsynonymous SNV	APOL3:NM_145640:exon1:c.G104T:p.G35V	.	416	1076	30	0	0	30	0.0137489	.	.	.	758066	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.077	0.00399405702194	0.0008	0.00179712	0.0021	9.651e-05	0.0022	0	0.0002	0.0013	0.0011	0.0081	0.001934	299	154602	rs148885226	0.0013	0.0013	0.0011	0.0016	0.0080	0.0013	0.0013	0.0074	0.0072	5.974e-05	0.0021	0.0007	0	0.0002	0.0080	0.0009	0.0016	0.0078	0.0011	0.0011	0.0010	0.0013	0.0081	0.0010	0.0009	0.0061	0.0054	0.0001	0	0.0031	0.0012	0.0002	0	0	0.0010	0.0014	0.0081	0.009	0.57480	D	0.023	0.57104	D	0.808	0.45299	P	0.356	0.43023	B	0.043271	0.01917	U	37.602300	1	0.81001	D	0	0.06538	N	3.31	0.06291	T	-0.27	0.11366	N	0.151	0.15469	-1.0002	0.29860	T	0.011	0.04321	T	10	0.0037358105	0.00069	T	0.003994	0.09462	T	0.077	0.22490	.	.	0.257786959452	0.25393	0.078363107641043	0.07772	0.691787299004	0.60617	0.210936486721	0.00852	T	0.001527	0.00969	T	-0.653267	0.00069	T	-0.707424	0.05429	T	0.0420518779235941	0.04064	T	0.286771	0.05140	T	0.057427566	0.11427	0.082281806	0.18768	0.057427566	0.11427	0.082281806	0.18767	-3.39	0.14922	T	.	.	0.154	0.34071	B	.	.	-0.212215	0.03029	0.463	0.88461662680239472	0.17995	0.05534	0.11427	N	ALL	0.105165	0.21021	N	-1.03137101328716	0.07958	0.3714873	-1.24005897005935	0.05280	0.2511918	0.99999999041564	0.74766	0.428477	0.06694	0	0.374146	0.05931	1	0.547309	0.15389	0	0.607083	0.38531	0	.	.	2.76	-5.08	0.02708	-2.118000	0.01412	-12.434000	0.00525	0.528000	0.24546	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2572:0.6312:0.1116	8.683	0.33384	471	0.78036	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.000000	0.002717	0.002924	0.000000	0.000000	0.012195	0.007576	0.07143	1426.45	35	chr22	36160788	.	C	A	1426.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.022;DP=341;ExcessHet=0;FS=3.255;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=0.845;SOR=0.804	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	6	0	1	0
chr22	36227655	36227655	C	A	exonic	APOL2	.	stopgain	APOL2:NM_030882:exon5:c.G763T:p.E255X,APOL2:NM_145637:exon6:c.G763T:p.E255X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.638208	0.05852	N	1.186950	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244707	0.78104	D	0.113728	0.77818	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive	.;.;High	4.700427	0.75409	26.3	0.96897571075513667	0.31523	0.01732	0.05474	N	AEFDBHI	0.031705	0.03443	N	-0.314676139406015	0.28589	1.578193	-0.688775489018297	0.17240	0.9158465	0.998919003679291	0.37962	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.82	0.094	0.13789	-0.406000	0.07249	-20.000000	0.00162	-0.381000	0.05390	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1956:0.1179:0.202:0.4845	0.853	0.01101	615	0.66512	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	630.24	177	chr22	36227655	.	C	A	630.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-5.44;DP=960;ExcessHet=0.3476;FS=113.24;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.02;ReadPosRankSum=0.161;SOR=9.967	GT:AD:DP:GQ:PL	0/1:283,60:343:99:308,0,7663	5	0	2	0
chr22	36227959	36227959	C	T	exonic	APOL2	.	nonsynonymous SNV	APOL2:NM_030882:exon5:c.G459A:p.M153I,APOL2:NM_145637:exon6:c.G459A:p.M153I	.	27	1464	30	1	0	32	0.0108108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00233605697159	0.0009	0.00179712	0.0022	0	0.0005	0	0.0003	0.0016	0.0011	0.0087	0.0020634	319	154602	rs200488207	0.0016	0.0016	0.0013	0.0020	0.0094	0.0016	0.0015	0.0089	0.0087	8.961e-05	0.0010	7.652e-05	0	0.0010	0.0071	0.0012	0.0021	0.0094	0.0010	0.0010	0.0010	0.0011	0.0079	0.0009	0.0008	0.0059	0.0052	0.0002	0	0.0007	0	0	0.0005	0.0034	0.0013	0.0014	0.0079	0.334	0.12961	T	0.559	0.10138	T	.	.	.	.	.	.	0.027806	0.01674	N	2.001260	1	0.08975	N	.	.	.	4.14	0.02839	T	-0.66	0.19085	N	0.046	0.02861	-0.9321	0.43829	T	0.009	0.03011	T	10	0.010323375	0.00230	T	0.002336	0.04507	T	0.023	0.04649	0.485	0.56780	0.0716867268079	0.06686	0.16648136821727322	0.16568	0.101037800964	0.11422	0.28577670455	0.08311	T	9.07E-4	0.00463	T	-0.701736	0.00036	T	-0.774798	0.02614	T	0.0123231575730099	0.00200	T	0.270573	0.04555	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	0.54064	B	.;.;.	.;.;.	-2.863662	0.00013	0.001	0.54460281740649141	0.05142	0.00572	0.02591	N	AEFGBI	0.036512	0.04877	N	-1.31215000778755	0.03535	0.1580791	-1.42177051027157	0.03035	0.1408186	0.987154519355852	0.31196	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.66	-3.79	0.04037	-2.478000	0.01061	-12.543000	0.00517	-0.447000	0.05153	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4315:0.0:0.5685	8.579	0.32779	619	0.66147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.005051	0.008152	0.005848	0.000000	0.000000	0.003049	0.022727	0.07143	1814.44	38	chr22	36227959	.	C	T	1814.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.502;DP=365;ExcessHet=0;FS=4.851;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=1.5;SOR=1.072	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr22	36265782	36265782	G	T	exonic	APOL1	.	stopgain	APOL1:NM_001136541:exon5:c.G892T:p.E298X,APOL1:NM_001362927:exon5:c.G892T:p.E298X,APOL1:NM_001136540:exon6:c.G946T:p.E316X,APOL1:NM_003661:exon6:c.G946T:p.E316X,APOL1:NM_145343:exon7:c.G994T:p.E332X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617745	0.05738	N	1.200530	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.79	0.78737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299787	0.82950	D	0.192847	0.82730	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Tolerant;.	.;.;.;High;.	5.111238	0.85445	28.6	0.94747486642744438	0.25445	0.01550	0.05082	N	AEFDBI	0.051060	0.08984	N	-0.28464942149091	0.29742	1.651984	-0.709861734847565	0.16715	0.8855342	0.64071294737418	0.22051	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	3.18	-2.28	0.06438	-1.743000	0.01933	-20.000000	0.00162	-0.266000	0.06809	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4028:0.0:0.402:0.1951	3.413	0.06937	489	0.76795	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	608.44	87	chr22	36265782	.	G	T	608.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.921;DP=653;ExcessHet=0.3476;FS=168.125;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=2.58;ReadPosRankSum=1.23;SOR=8.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,34:149:99:0|1:36265782_G_T:282,0,2922:36265782	5	0	2	0
chr22	36265787	36265787	G	T	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G897T:p.Q299H,APOL1:NM_001362927:exon5:c.G897T:p.Q299H,APOL1:NM_001136540:exon6:c.G951T:p.Q317H,APOL1:NM_003661:exon6:c.G951T:p.Q317H,APOL1:NM_145343:exon7:c.G999T:p.Q333H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00174566368718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.33753	T	0.05	0.50514	T	0.832	0.46138	P	0.6	0.50752	P	0.486182	0.05010	N	1.272740	1	0.08975	N	1.98	0.53716	M	3.59	0.04544	T	-3.32	0.66085	D	0.056	0.07262	-0.9872	0.33298	T	0.028	0.11926	T	10	0.41554847	0.56516	T	0.001746	0.02934	T	0.076	0.22200	0.787	0.90993	0.536147182381	0.53264	0.1934163824026781	0.19259	0.198314738213	0.22208	0.238215714693	0.02632	T	0.036324	0.24062	T	-0.28305	0.10346	T	-0.644358	0.09354	T	0.571350753307343	0.35286	D	0.882812	0.60417	D	0.09095966	0.21301	0.08753992	0.20354	0.09095966	0.21301	0.08753992	0.20354	-4.203	0.26795	T	.	.	0.158	0.37293	B	.;.;.;.;.	.;.;.;.;.	1.086071	0.14694	11.25	0.98800888467532288	0.46445	0.06423	0.12427	N	AEFDBI	0.210716	0.33657	N	-0.470422674084812	0.23054	1.235307	-0.693552490859705	0.17120	0.908959	0.445296783057563	0.20490	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	3.18	0.676	0.17125	0.445000	0.21392	-1.627000	0.05032	-0.298000	0.06216	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.5404:0.4596	7.454	0.26427	489	0.76795	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	300.53	82	chr22	36265787	.	G	T	300.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.242;DP=618;ExcessHet=0;FS=59.407;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.67;ReadPosRankSum=1.03;SOR=5.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:124,0:124:99:.:.:0,120,1800:.	6	0	1	0
chr22	37056380	37056380	G	A	exonic	KCTD17	.	nonsynonymous SNV	KCTD17:NM_001282684:exon3:c.G380A:p.R127Q,KCTD17:NM_001282685:exon3:c.G380A:p.R127Q,KCTD17:NM_001282686:exon3:c.G380A:p.R127Q,KCTD17:NM_024681:exon3:c.G380A:p.R127Q	Dystonia 26, myoclonic, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.0482798066926	.	.	4.198e-05	0	0	0	0	1.524e-05	0	0.0003	3.23e-05	5	154602	rs769868923	1.505e-05	1.505e-05	9.532e-06	2.063e-05	0.0001	9.86e-06	8.42e-06	7.131e-05	5.487e-05	0	0	0	0	0	0	8.995e-06	1.657e-05	0.0001	6.57e-06	6.566e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.013	0.54683	D	0.073	0.56192	T	0.996	0.70673	D	0.902	0.64047	P	0.000735	0.42129	D	0.000000	0.99907	0.46009	D	2.495	0.72670	M	0.97	0.42502	T	-3.09	0.63438	D	0.429	0.50418	-0.4977	0.68733	T	0.257	0.62766	T	10	0.31787127	0.49192	T	0.04828	0.63300	D	0.200	0.48430	0.565	0.68633	0.610390267789	0.60725	0.738728194840748	0.73817	2.39889414524	0.97143	0.585782766342	0.50900	T	0.059093	0.44903	T	-0.260104	0.12888	T	-0.351719	0.39008	T	0.940734326839447	0.61334	D	0.907809	0.67374	D	0.34109178	0.56366	0.18759786	0.42001	0.34109178	0.56366	0.18759786	0.42000	-12.525	0.87435	D	0.4282075721454392	0.51580	0.158	0.54587	B	.;.;.	.;.;.	6.023489	0.94368	34	0.99939590809653167	0.99734	0.96966	0.71921	D	AEFDBI	0.780670	0.71249	D	0.593413720121486	0.72762	5.857126	0.570909144091216	0.72864	5.877473	0.996813576038425	0.35031	0.732398	0.92422	0	0.80507	0.99744	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.35	4.35	0.51454	6.856000	0.75250	11.722000	0.94835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	17.069	0.86443	940	0.13648	BTB/POZ domain;.;BTB/POZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	511.46	34	chr22	37056380	.	G	A	511.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.17;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.98;ReadPosRankSum=1.17;SOR=0.507	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1003	6	0	1	0
chr22	37070952	37070952	G	A	exonic	TMPRSS6	.	nonsynonymous SNV	TMPRSS6:NM_001289000:exon14:c.C1636T:p.P546S,TMPRSS6:NM_001289001:exon14:c.C1636T:p.P546S,TMPRSS6:NM_001374504:exon14:c.C1636T:p.P546S,TMPRSS6:NM_153609:exon14:c.C1636T:p.P546S	Iron-refractory iron deficiency anemia, Autosomal recessive	1	1492	26	3	0	32	0.0106101	.	.	.	352533	Microcytic_anemia|not_provided	Human_Phenotype_Ontology:HP:0001935,MONDO:MONDO:0001245,MedGen:C5194182|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.249	.	0.0048	0.0277556	0.0140	0.0160	0.0011	0.0019	0	0.0001	0.0114	0.0885	0.0121991	1886	154602	rs78174698	0.0057	0.0057	0.0036	0.0079	0.0832	0.0056	0.0056	0.0816	0.0809	0.0152	0.0013	0	0.0013	0	0.0047	9.802e-05	0.0075	0.0832	0.0077	0.0077	0.0067	0.0087	0.0892	0.0073	0.0072	0.0822	0.0795	0.0155	0	0.0035	0	0.0027	0	0.0068	0.0001	0.0080	0.0892	0.688	0.08310	T	0.928	0.03205	T	0.003	0.12183	B	0.008	0.13708	B	0.353618	0.13778	N	0.714557	1	0.08975	N	0.52	0.13579	N	-3.73	0.95458	D	-0.93	0.25551	N	0.136	0.13341	-0.3909	0.72313	T	0.629	0.86993	D	10	0.009992182	0.00224	T	.	.	.	0.249	0.55752	.	.	.	.	0.4235261681190472	0.42269	0.169202251842	0.19074	0.282677292824	0.07868	T	0.146743	0.48449	T	-0.488045	0.00666	T	-0.407012	0.32569	T	0.000516475392704065	0.00004	T	0.831917	0.49916	T	0.024491193	0.01285	0.046829663	0.06612	0.026203772	0.01648	0.055605717	0.09786	-4.731	0.35123	T	.	.	0.081	0.08368	B	.;.;.;.	.;.;.;.	0.104687	0.05055	1.598	0.70024391689516474	0.09161	0.13129	0.17679	N	AEFDBI	0.321059	0.42397	N	-0.974832172869314	0.09144	0.4315332	-0.978446037131662	0.10270	0.5161642	0.181565704610847	0.17878	0.549168	0.22868	0	0.627178	0.54094	0	0.61531	0.40942	0	0.616125	0.45549	0	.	.	4.92	2.79	0.31792	-0.067000	0.11538	0.878000	0.22371	0.674000	0.70861	0.000000	0.06391	0.000000	0.08366	0.072000	0.16771	0.0792:0.4043:0.5165:0.0	9.779	0.39806	942	0.12992	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015136	0.005051	0.009511	0.008824	0.000000	0.008621	0.003067	0.034091	0.07143	826.53	33	chr22	37070952	.	G	A	826.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.567;DP=239;ExcessHet=0;FS=7.73;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=1.5;SOR=1.237	GT:AD:DP:GQ:PL	0/1:39,35:74:99:837,0,968	6	0	1	0
chr22	37075168	37075168	G	A	exonic	TMPRSS6	.	nonsynonymous SNV	TMPRSS6:NM_001289000:exon11:c.C1309T:p.R437W,TMPRSS6:NM_001289001:exon11:c.C1309T:p.R437W,TMPRSS6:NM_001374504:exon11:c.C1309T:p.R437W,TMPRSS6:NM_153609:exon11:c.C1309T:p.R437W	Iron-refractory iron deficiency anemia, Autosomal recessive	0	1502	20	0	0	20	0.00661376	.	.	.	237221	not_provided|Microcytic_anemia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001935,MONDO:MONDO:0001245,MedGen:C5194182	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.137	.	0.0054	0.00359425	0.0084	0.0014	0.0016	0	0.0523	0.0081	0.0155	0.0052	0.0075161	1162	154602	rs117576908	0.0077	0.0077	0.0078	0.0075	0.0066	0.0076	0.0075	0.0065	0.0064	0.0009	0.0017	0.0011	0	0.0552	0.0038	0.0066	0.0063	0.0046	0.0080	0.0080	0.0058	0.0103	0.0068	0.0076	0.0075	0.0063	0.0061	0.0013	0	0.0023	0.0009	0	0.0596	0	0.0068	0.0071	0.0029	0.06	0.37326	T	0.041	0.50514	D	0.876	0.51285	P	0.153	0.44752	B	0.000064	0.52346	D	0.130546	0.937454	0.37191	D	0.975	0.24501	L	1.99	0.21666	T	-1.49	0.36385	N	0.511	0.54234	-1.0551	0.13013	T	0.026	0.11043	T	10	0.005034983	0.00108	T	.	.	.	0.137	0.36984	.	.	0.674193276518	0.67143	0.3907384918288052	0.38988	0.297400424113	0.32122	0.275892853737	0.06926	T	0.120847	0.44338	T	-0.420592	0.01695	T	-0.372222	0.36629	T	0.0207014071583731	0.00770	T	0.881212	0.60074	D	0.16913334	0.37412	0.22019187	0.46785	0.2607788	0.49134	0.19025114	0.42416	-7.565	0.58401	D	.	.	0.107	0.20157	B	.;.;.;.	.;.;.;.	4.551730	0.71641	25.7	0.99802209842044287	0.88728	0.97954	0.78397	D	AEFDBI	0.958851	0.97887	D	0.227325687900495	0.52528	3.426	0.343333235051212	0.58108	3.979418	0.999999850102313	0.74766	0.59774	0.34471	0	0.627178	0.54094	0	0.596491	0.31596	0	0.542086	0.14980	0	.	.	5.27	5.27	0.73797	7.324000	0.78389	9.517000	0.80928	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.520000	0.29475	0.0:0.0:1.0:0.0	18.876	0.92305	963	0.08280	CUB domain|CUB domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002016	0.000000	0.001359	0.005848	0.000000	0.008621	0.000000	0.003788	0.1429	79.4	34	chr22	37075168	.	G	A	79.4	.	AC=2;AF=0.143;AN=14;DP=214;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=19.85;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1084	6	1	0	0
chr22	37632465	37632465	G	A	exonic	GGA1	.	nonsynonymous SNV	GGA1:NM_001001560:exon14:c.G1498A:p.V500I,GGA1:NM_001172687:exon16:c.G1747A:p.V583I,GGA1:NM_001363771:exon16:c.G1810A:p.V604I,GGA1:NM_013365:exon16:c.G1759A:p.V587I,GGA1:NM_001172688:exon17:c.G1540A:p.V514I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0141970399467	7.7e-05	0.000199681	8.245e-05	9.617e-05	0	0	0	1.501e-05	0	0.0005	7.12e-05	11	154602	rs369595461	9.167e-05	9.166e-05	7.216e-05	0.0001	0.0007	7.891e-05	7.366e-05	0.0005	0.0005	5.974e-05	4.472e-05	0	0	0	0.0003	6.116e-05	3.312e-05	0.0007	5.91e-05	5.906e-05	3.854e-05	8.059e-05	0.0008	3.076e-05	2.209e-05	0.0003	0.0002	2.406e-05	0	0	0	0	0	0	5.881e-05	0	0.0008	0.174	0.33753	T	0.058	0.48080	T	0.459	0.36338	P	0.061	0.26820	B	0.001944	0.37596	N	0.227092	0.788087	0.29257	N	0.895	0.22405	L	1.49	0.31470	T	0.0	0.08187	N	0.089	0.10911	-1.0494	0.14565	T	0.029	0.12234	T	10	0.0445728	0.03428	T	0.014197	0.34156	T	0.027	0.05988	.	.	0.268702046668	0.26493	0.03867904877295539	0.03813	0.212234790121	0.23721	0.529412925243	0.42952	T	0.099	0.40279	T	-0.430076	0.01481	T	-0.539395	0.18357	T	0.021575915611714	0.00861	T	0.838016	0.51077	T	0.07179267	0.15922	0.05602969	0.09936	0.07179267	0.15922	0.05602969	0.09935	-5.685	0.43560	T	.	.	0.065	0.03552	B	.;.;.;.	.;.;.;.	2.624147	0.34107	19.53	0.93469895081286658	0.23262	0.80779	0.40331	D	AEFDGBHCI	0.253287	0.37281	N	-0.416709212965912	0.24882	1.34677	-0.31760165022356	0.27530	1.528273	0.999997675659293	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.3	3.22	0.36041	2.008000	0.40513	2.603000	0.33533	0.676000	0.76740	0.990000	0.36992	0.998000	0.33993	0.498000	0.28972	0.2281:0.1411:0.6308:0.0	5.734	0.17322	923	0.18507	Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain|Gamma-adaptin ear (GAE) domain|Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	449.63	32	chr22	37632465	.	G	A	449.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.905;DP=205;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=0.487;SOR=0.776	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1126	6	0	1	0
chr22	37824853	37824853	G	C	exonic	GALR3	.	nonsynonymous SNV	GALR3:NM_003614:exon2:c.G490C:p.V164L	.	433	1079	9	1	0	11	0.00507146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.844423935742	0.0003	0.000998403	0.0033	0	0.0033	0	0	0.0038	0.0042	0.0040	0.0009832	152	154602	rs201220537	0.0008	0.0008	0.0007	0.0008	0.0100	0.0007	0.0007	0.0075	0.0067	0.0004	0.0017	0.0088	0	0	0.0100	0.0005	0.0019	0.0012	0.0009	0.0009	0.0009	0.0009	0.0018	0.0008	0.0008	0.0013	0.0011	0.0005	0	0.0018	0.0079	0	0	0.0241	0.0007	0.0038	0.0012	0.451	0.08969	T	0.517	0.10572	T	0.067	0.23653	B	0.013	0.16460	B	0.001388	0.39175	N	0.216529	0.567405	0.32265	D	1.005	0.25186	L	-0.59	0.71543	T	-0.81	0.22294	N	0.253	0.28616	-0.7832	0.56121	T	0.164	0.50144	T	10	0.010802358	0.00239	T	0.844424	0.98798	D	0.146	0.38789	0.501	0.59304	0.751730520737	0.74948	0.19785064172882888	0.19702	1.03962625952	0.75747	0.965840280056	0.99958	D	0.034564	0.23370	T	-0.336506	0.05634	T	-0.275159	0.47298	T	0.0344886640305371	0.02721	T	0.465653	0.13651	T	0.45275438	0.64216	0.33595946	0.59404	0.45275438	0.64216	0.33595946	0.59403	-3.212	0.12628	T	.	.	0.160	0.35435	B	.	.	3.462266	0.48258	22.6	0.95845559521342216	0.27976	0.89866	0.50614	D	ALL	0.395779	0.47251	N	-0.18601357204842	0.33717	1.916028	0.00386481695361777	0.39894	2.372386	0.999999927828875	0.74766	0.443343	0.08805	1	0.578056	0.33634	0	0.666236	0.60216	0	0.603991	0.37454	0	.	.	4.81	4.81	0.61401	4.773000	0.62025	6.009000	0.52614	0.502000	0.22824	1.000000	0.71638	1.000000	0.68203	0.857000	0.40602	0.1625:0.0:0.8375:0.0	9.770	0.39750	905	0.23532	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	292.49	30	chr22	37824853	.	G	C	292.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.699;DP=209;ExcessHet=0;FS=1.325;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.12;ReadPosRankSum=0.526;SOR=0.392	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,984	6	0	1	0
chr22	37824941	37824941	A	C	exonic	GALR3	.	nonsynonymous SNV	GALR3:NM_003614:exon2:c.A578C:p.Y193S	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.848	0.900799617685	0.0009	0.000798722	0.0033	0.0010	0.0034	0	0.0027	0.0049	0	0.0019	0.0013389	207	154602	rs201769452	0.0033	0.0030	0.0034	0.0032	0.0037	0.0032	0.0032	0.0036	0.0036	0.0006	0.0016	0.0003	0	0.0012	0.0020	0.0037	0.0030	0.0013	0.0024	0.0024	0.0026	0.0021	0.0043	0.0022	0.0021	0.0039	0.0038	0.0006	0	0.0016	0	0	0.0003	0.0069	0.0043	0.0029	0.0006	0.0	0.91255	D	0.002	0.79402	D	0.993	0.65571	D	0.932	0.66722	D	0.000007	0.62929	D	0.066809	1	0.81001	D	3.94	0.96382	H	-0.66	0.72348	T	-7.44	0.94872	D	0.9	0.90025	0.425	0.89467	D	0.552	0.83597	D	10	0.15418747	0.29088	T	0.901	0.99253	D	0.848	0.95286	.	.	0.877067479907	0.87586	0.699669024203502	0.69907	2.35052041495	0.96812	0.943348526955	0.99572	D	0.206421	0.56576	T	-0.0599356	0.42916	T	0.140849	0.79599	D	0.197380697583155	0.20270	T	0.885311	0.61048	D	0.97259593	0.98497	0.966349	0.99297	0.97259593	0.98497	0.966349	0.99297	-13.048	0.89560	D	.	.	0.915	0.83824	P	.	.	5.438531	0.90909	32	0.98940896410409118	0.48940	0.96902	0.71564	D	AEFDBHCI	0.799043	0.72542	D	0.756270114857182	0.83315	7.98485	0.618046032608841	0.76249	6.456585	0.999999999989056	0.74766	0.56387	0.32371	0	0.578056	0.33634	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.36	4.36	0.51643	8.507000	0.90352	8.547000	0.77514	0.560000	0.28382	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	1.0:0.0:0.0:0.0	13.560	0.61246	905	0.23532	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010926	0.000000	0.013850	0.005952	0.050000	0.017857	0.015924	0.008000	0.07143	480.83	24	chr22	37824941	.	A	C	480.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.371;DP=187;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=0.244;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,984:.	6	0	1	0
chr22	37832974	37832974	C	T	exonic	ANKRD54	.	nonsynonymous SNV	ANKRD54:NM_001349853:exon6:c.G509A:p.R170H,ANKRD54:NM_001363839:exon6:c.G344A:p.R115H,ANKRD54:NM_138797:exon6:c.G704A:p.R235H	.	427	1091	4	0	0	4	0.00182983	.	.	.	2349662	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.186	0.0833403046888	0.0006	0.000399361	0.0004	0.0002	0.0007	0	0.0003	0.0005	0.0011	0.0004	0.0004204	65	154602	rs150257798	0.0006	0.0006	0.0006	0.0006	0.0038	0.0006	0.0005	0.0026	0.0022	5.974e-05	0.0005	0	0	0.0003	0.0038	0.0007	0.0005	0.0003	0.0005	0.0005	0.0006	0.0004	0.0009	0.0004	0.0004	0.0007	0.0006	0.0001	0	0.0001	0	0	0.0002	0	0.0009	0.0009	0.0004	0.017	0.51248	D	0.025	0.56192	D	1.0	0.90584	D	0.993	0.81110	D	0.000001	0.62929	D	0.056651	0.999999	0.58761	D	1.48	0.37141	L	-0.36	0.69777	T	-3.0	0.62343	D	0.655	0.77883	-0.7118	0.59864	T	0.248	0.61774	T	10	0.3801749	0.54134	T	0.08334	0.74095	D	0.373	0.69188	.	.	0.767606201311	0.76548	0.4829391204875453	0.48213	1.54214518196	0.87732	0.605088472366	0.53622	T	0.154886	0.49638	T	-0.250839	0.13996	T	-0.199209	0.54722	T	0.329701811075211	0.26213	T	0.941106	0.78031	D	0.1658413	0.36881	0.13956335	0.33296	0.1658413	0.36881	0.13956335	0.33295	-7.825	0.59871	D	.	.	0.517	0.65328	A	.;.;.	.;.;.	4.729348	0.76160	26.5	0.99675114997381964	0.78846	0.96664	0.70285	D	AEFGBI	0.523743	0.54722	D	-0.0167738413872271	0.41098	2.45214	0.0124830150031767	0.40293	2.402392	0.999999977701739	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.59	4.54	0.55220	5.598000	0.67274	5.890000	0.50749	-0.320000	0.05874	1.000000	0.71638	1.000000	0.68203	0.097000	0.18139	0.0:0.9204:0.0:0.0796	13.501	0.60909	900	0.24599	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.001359	0.014620	0.000000	0.008621	0.003049	0.000000	0.07143	607.53	64	chr22	37832974	.	C	T	607.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.14;DP=239;ExcessHet=0;FS=2.112;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=-1.571;SOR=1.034	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	6	0	1	0
chr22	38752601	38752601	G	A	exonic	SUN2	.	nonsynonymous SNV	SUN2:NM_001199579:exon2:c.C28T:p.R10C,SUN2:NM_015374:exon2:c.C28T:p.R10C,SUN2:NM_001199580:exon3:c.C28T:p.R10C	.	394	1127	1	0	0	1	0.000443459	.	.	.	470301	Emery-Dreifuss_muscular_dystrophy|not_provided	MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.152	0.0388681299819	0.0005	0.000998403	0.0002	0.0019	0.0004	0	0	6.155e-05	0	0	0.0002135	33	154602	rs139611023	0.0001	0.0001	0.0001	0.0001	0.0020	9.941e-05	9.35e-05	0.0016	0.0015	0.0020	0.0004	0	0	1.878e-05	0.0002	4.676e-05	0.0004	2.319e-05	0.0006	0.0006	0.0007	0.0005	0.0019	0.0005	0.0005	0.0016	0.0014	0.0019	0	0.0005	0.0003	0	0	0	5.88e-05	0.0009	0	0.014	0.91255	D	0.052	0.92824	T	1.0	0.90584	D	0.996	0.84481	D	0.000411	0.44736	D	0.156215	0.99983	0.49637	D	2.555	0.74557	M	2.51	0.42122	T	-2.18	0.93020	N	0.674	0.75559	-0.8847	0.49382	T	0.125	0.42924	T	10	0.022436708	0.00560	T	0.038868	0.58476	D	0.152	0.39956	.	.	0.554235320232	0.55081	0.2582121154090907	0.25735	1.02170018296	0.75144	0.772068619728	0.77735	T	0.423552	0.77427	T	-0.278214	0.10857	T	-0.17827	0.56683	T	0.0554853608708909	0.06438	T	0.927907	0.73770	D	0.102882005	0.24313	0.08713096	0.20234	0.102882005	0.24313	0.08713096	0.20234	-6.662	0.52641	T	.	.	0.232	0.64975	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.716051	0.93200	33	0.99917296184635063	0.98518	0.86101	0.45320	D	AEFDGBCI	0.614173	0.60159	D	0.550357800543472	0.70105	5.452745	0.55856718132662	0.71996	5.740687	0.999999999350469	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.82	4.82	0.61641	5.347000	0.65768	11.505000	0.92979	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	15.178	0.72607	819	0.41190	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002024	0.000000	0.005450	0.005882	0.000000	0.000000	0.000000	0.000000	0.07143	108.44	34	chr22	38752601	.	G	A	108.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.366;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=1.98;SOR=1.022	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1176	6	0	1	0
chr22	39025602	39025602	C	A	exonic	APOBEC3D	.	nonsynonymous SNV	APOBEC3D:NM_152426:exon4:c.C536A:p.P179Q	.	385	1120	17	0	0	17	0.00753212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	.	0.0038	0.00459265	0.0066	0.0009	0.0014	0	0.0038	0.0070	0.0044	0.0168	0.0060219	931	154602	rs190831871	0.0052	0.0052	0.0049	0.0055	0.0170	0.0051	0.0051	0.0163	0.0160	0.0007	0.0014	0.0068	7.557e-05	0.0034	0.0042	0.0048	0.0048	0.0170	0.0037	0.0037	0.0039	0.0034	0.0181	0.0034	0.0033	0.0150	0.0139	0.0009	0	0.0010	0.0084	0.0002	0.0046	0	0.0049	0.0033	0.0181	0.149	0.24758	T	0.366	0.16668	T	0.0	0.02946	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.435	0.35949	L	-0.02	0.62918	T	-1.36	0.33798	N	0.132	0.12770	-1.0566	0.12621	T	0.113	0.40238	T	9	0.00964433	0.00217	T	.	.	.	0.134	0.36365	.	.	0.0138822411134	0.00435	0.1638965312774758	0.16309	0.0472017422713	0.05146	0.321958512068	0.13718	T	0.039816	0.25318	T	-0.54426	0.00316	T	-0.541595	0.18141	T	0.00349210116851388	0.00037	T	0.479552	0.14466	T	0.026261639	0.01662	0.04122633	0.04637	0.026261639	0.01662	0.04122633	0.04637	-7.492	0.57554	T	.	.	0.096	0.15385	B	.;.	.;.	-1.183666	0.00547	0.013	0.27355409658577745	0.01354	0.00604	0.02691	N	AEFGBI	0.031941	0.03514	N	-1.89761463987172	0.00347	0.0149104	-2.06420274573492	0.00223	0.009823239	0.999999990443082	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	2.44	-4.88	0.02884	-1.897000	0.01694	-14.230000	0.00414	-1.087000	0.01546	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5377:0.1425:0.3197:0.0	8.394	0.31705	350	0.85473	.;APOBEC-like, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.008621	0.012195	0.003788	0.07143	4698.44	33	chr22	39025602	.	C	A	4698.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.147;DP=622;ExcessHet=0;FS=0.52;MLEAC=1;MLEAF=0.071;MQ=59.98;MQRankSum=-1.072;QD=11.21;ReadPosRankSum=-0.064;SOR=0.737	GT:AD:DP:GQ:PL	0/1:225,194:419:99:4709,0,5563	6	0	1	0
chr22	39512244	39512244	C	A	exonic	MIEF1	.	nonsynonymous SNV	MIEF1:NM_001304564:exon5:c.C335A:p.P112Q,MIEF1:NM_019008:exon5:c.C335A:p.P112Q	.	.	.	.	.	.	.	.	.	.	.	2205366	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.0128721597794	.	.	5.072e-05	0	0	0	0	9.234e-05	0	0	4.53e-05	7	154602	rs12158456	9.518e-05	9.508e-05	0.0001	8.671e-05	0.0003	8.21e-05	7.724e-05	0.0001	8.699e-05	0.0002	0	0	0	0	0.0003	0.0001	0.0001	0	3.941e-05	3.94e-05	3.853e-05	4.033e-05	5.878e-05	1.715e-05	1.129e-05	1.972e-05	1.124e-05	2.412e-05	0	0	0	0	9.411e-05	0	5.878e-05	0	0	0.255	0.16848	T	0.684	0.06511	T	0.834	0.46206	P	0.322	0.41795	B	0.000968	0.40836	D	0.263291	0.999654	0.48079	D	1.95	0.52479	M	2.82	0.10871	T	-0.45	0.16799	N	0.519	0.55280	-0.9845	0.33951	T	0.022	0.09284	T	10	0.17103195	0.31799	T	0.012872	0.31816	T	0.079	0.23065	.	.	0.301122078929	0.29733	0.18758882489366766	0.18676	0.379344899926	0.39330	0.358880937099	0.19223	T	0.015791	0.13179	T	-0.31354	0.07440	T	-0.483605	0.24063	T	0.0666124299168587	0.08167	T	0.777022	0.40965	T	0.06875473	0.15006	0.07182645	0.15424	0.06875473	0.15006	0.07182645	0.15423	-4.556	0.31614	T	.	.	0.069	0.06387	B	.;.;.	.;.;.	2.115494	0.26923	17.29	0.9793004297009027	0.36949	0.99064	0.90698	D	AEFBI	0.477416	0.52041	N	-0.185720887197451	0.33729	1.916866	-0.0217450365406997	0.38735	2.28638	0.999999998552032	0.74766	0.609539	0.35627	0	0.577304	0.33150	0	0.493711	0.08198	1	0.635551	0.53088	0	.	.	5.87	4.86	0.62624	2.208000	0.42436	1.832000	0.29123	-0.201000	0.08892	0.992000	0.37556	0.937000	0.28687	0.991000	0.66497	0.0:0.9327:0.0:0.0673	15.237	0.73129	900	0.24599	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	295.63	28	chr22	39512244	.	C	A	295.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.171;DP=193;ExcessHet=0;FS=3.981;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=-0.181;SOR=0.215	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1345	6	0	1	0
chr22	39649680	39649680	G	A	exonic	CACNA1I	.	nonsynonymous SNV	CACNA1I:NM_001003406:exon9:c.G1642A:p.A548T,CACNA1I:NM_021096:exon10:c.G1747A:p.A583T	.	242	1272	6	2	0	10	0.00391543	.	.	.	2476883	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.244	0.0397685095575	0.0012	0.00219649	0.0020	0	0.0046	0	0	0.0035	0	0	0.0007827	121	154602	rs56859827	0.0014	0.0014	0.0014	0.0014	0.0158	0.0014	0.0013	0.0129	0.0119	0.0030	0.0047	0.0079	0	4.283e-05	0.0158	0.0011	0.0033	0.0004	0.0024	0.0024	0.0024	0.0025	0.0082	0.0022	0.0021	0.0071	0.0066	0.0020	0	0.0082	0.0092	0	9.438e-05	0.0138	0.0016	0.0062	0	0.462	0.11120	T	0.517	0.10572	T	0.005	0.14655	B	0.001	0.06944	B	0.000001	0.00162	N	18.761200	1	0.08975	N	1.355	0.33814	L	-4.07	0.96687	D	-0.75	0.21860	N	0.157	0.16308	-0.0527	0.81149	T	0.618	0.86522	D	10	0.00591442	0.00132	T	0.039769	0.58997	D	0.244	0.55061	.	.	0.541563161504	0.53808	0.19011871540595646	0.18929	0.924713105893	0.71596	0.371823906898	0.21094	T	0.012131	0.10712	T	-0.365462	0.03831	T	-0.298018	0.44933	T	0.00373968284432066	0.00040	T	0.142186	0.01486	T	0.033974603	0.03722	0.05052342	0.07946	0.033974603	0.03722	0.05052342	0.07946	-4.395	0.29598	T	.	.	0.070	0.04080	B	.;.;.;.	.;.;.;.	0.208574	0.05926	2.364	0.97287762326005478	0.33214	0.21747	0.21510	N	AEFDBI	0.179413	0.30670	N	-1.10388642612502	0.06574	0.3029979	-1.13316298278046	0.07074	0.3427548	0.16779203473491	0.17690	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.44	1.34	0.21018	0.079000	0.14636	0.854000	0.22166	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2946:0.7054:0.0	6.799	0.22923	878	0.29785	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.021878	0.047368	0.033528	0.014970	0.000000	0.019231	0.003205	0.008264	0.08333	48.27	21	chr22	39649680	.	G	A	48.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.168;DP=165;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=4.83;ReadPosRankSum=-1.213;SOR=0.892	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1181	5	0	1	1
chr22	40265120	40265120	C	T	exonic	TNRC6B	.	nonsynonymous SNV	TNRC6B:NM_001162501:exon5:c.C890T:p.S297F,TNRC6B:NM_015088:exon5:c.C890T:p.S297F	.	416	1102	4	0	0	4	0.00181159	.	.	.	2831986	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.208	0.0219336753387	.	.	0.0001	0	0	0	0	2.999e-05	0	0.0007	8.41e-05	13	154602	rs759765630	9.304e-05	9.303e-05	6.398e-05	0.0001	0.0010	8.026e-05	7.519e-05	0.0005	0.0004	0	0	0	0	0	0.0010	5.576e-05	0.0003	0.0006	1.313e-05	1.312e-05	1.285e-05	1.343e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.017	0.68238	D	0.082	0.41573	T	0.976	0.70673	D	0.641	0.63802	P	0.005477	0.32770	N	0.308092	0.972038	0.81001	D	1.87	0.49600	L	0.5	0.55608	T	-0.65	0.18877	N	0.596	0.63459	-0.6236	0.63839	T	0.225	0.58919	T	10	0.3027271	0.47808	T	0.021934	0.44774	T	0.208	0.49714	0.33	0.31519	0.341886373756	0.33793	0.7523726459552695	0.75184	0.460054079252	0.45564	0.62425673008	0.56331	T	0.01416	0.12111	T	-0.133728	0.30894	T	-0.065705	0.65930	T	0.144178624535899	0.16630	T	0.950605	0.81072	D	0.24327357	0.47264	0.16628526	0.38424	0.24327357	0.47264	0.16628526	0.38423	-6.912	0.54846	T	.	.	0.141	0.31507	B	.;.	.;.	4.507318	0.70554	25.5	0.99707238055657377	0.81074	0.98702	0.85770	D	AEFBI	0.558713	0.56782	D	0.541791812301243	0.69582	5.377724	0.576850239300773	0.73284	5.945374	0.999951944282825	0.48110	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.07	5.07	0.68106	5.349000	0.65779	7.708000	0.66649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	17.470	0.87537	639	0.64210	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1087.45	77	chr22	40265120	.	C	T	1087.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.988;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=-0.097;SOR=0.716	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1077	6	0	1	0
chr22	40777114	40777114	T	C	exonic	SLC25A17	.	nonsynonymous SNV	SLC25A17:NM_001282727:exon5:c.A400G:p.I134V,SLC25A17:NM_006358:exon7:c.A619G:p.I207V,SLC25A17:NM_001282726:exon8:c.A508G:p.I170V	.	428	1085	9	0	0	9	0.00413034	.	.	.	2371301	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.160	0.00789452148917	0.0014	.	0.0011	9.649e-05	0.0002	0	0	0.0016	0	0.0016	0.0010414	161	154602	rs137901231	0.0010	0.0010	0.0010	0.0011	0.0031	0.0010	0.0010	0.0020	0.0017	0.0002	0.0004	0.0042	0	5.616e-05	0.0031	0.0010	0.0012	0.0015	0.0007	0.0007	0.0008	0.0006	0.0012	0.0006	0.0006	0.0010	0.0009	9.63e-05	0	0.0004	0.0043	0	0	0	0.0012	0.0014	0.0010	1.0	0.02061	T	0.595	0.08079	T	0.0	0.02946	B	0.002	0.06944	B	0.007057	0.31632	N	0.391931	0.563289	0.32231	D	0	0.06538	N	-1.29	0.79475	T	-0.16	0.09460	N	0.091	0.06990	-0.9162	0.46063	T	0.171	0.51165	T	10	0.009247631	0.00209	T	0.007895	0.20929	T	0.160	0.41473	.	.	0.40218521252	0.39833	0.3592612947201606	0.35840	0.143840373198	0.16248	0.384690880775	0.22920	T	0.068429	0.34184	T	-0.411672	0.01938	T	-0.394194	0.34062	T	0.0030759433623681	0.00032	T	0.743726	0.43180	T	0.017542277	0.00282	0.031532098	0.01756	0.017542277	0.00282	0.031532098	0.01755	-4.184	0.26519	T	.	.	0.068	0.06525	B	.;.;.	.;.;.	1.047176	0.14282	10.86	0.64023659727302473	0.07380	0.18342	0.20221	N	AEFBI	0.098169	0.19787	N	-0.884407868188073	0.11213	0.5399018	-0.730510836240321	0.16203	0.8560009	0.0640460635558164	0.15317	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	-0.344	0.12001	-0.067000	0.11538	-0.386000	0.09508	0.665000	0.62972	0.812000	0.29879	0.209000	0.23629	0.997000	0.79791	0.0:0.3821:0.1171:0.5008	7.581	0.27130	245	0.90404	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003024	0.005102	0.004076	0.000000	0.000000	0.000000	0.012195	0.000000	0.07143	1634.63	35	chr22	40777114	.	T	C	1634.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.912;DP=327;ExcessHet=0;FS=3.847;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=1.52;SOR=1.032	GT:AD:DP:GQ:PL	0/1:76,73:149:99:1645,0,1827	6	0	1	0
chr22	41794400	41794400	C	T	exonic	MEI1	.	nonsynonymous SNV	MEI1:NM_152513:exon28:c.C3457T:p.R1153W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.764	0.337563690841	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1308374741	2.052e-06	2.052e-06	2.723e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.005	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000245	0.46924	D	0.143965	0.952233	0.40113	D	2.485	0.72352	M	-0.51	0.70597	T	-4.18	0.85027	D	0.81	0.80572	-0.0231	0.81775	T	0.466	0.79394	T	10	0.76890415	0.76923	D	0.337564	0.91925	D	0.764	0.92004	0.59	0.71874	0.686386198217	0.68370	0.5782385486343223	0.57752	0.522400718261	0.49966	0.661893486977	0.61680	T	0.619654	0.88060	D	0.337414	0.85663	D	0.246896	0.85475	D	0.987331926822662	0.77850	D	0.917108	0.70989	D	0.2672744	0.49799	0.18233374	0.41154	0.2672744	0.49798	0.18233374	0.41153	-10.034	0.74115	D	.	.	0.232	0.49557	B	.;.	.;.	4.689784	0.75131	26.3	0.99929169722697253	0.99279	0.75418	0.36925	D	AEFBI	0.490513	0.52797	N	0.513205764579977	0.67868	5.139687	0.481865177775384	0.66789	4.998019	0.291533022378113	0.19092	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.53	4.5	0.54382	2.559000	0.45550	3.947000	0.40646	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1647:0.8353:0.0:0.0	12.741	0.56627	116	0.95299	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	474.49	33	chr22	41794400	.	C	T	474.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.677;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.567;SOR=0.534	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1123	6	0	1	0
chr22	41909797	41909797	T	C	exonic	SHISA8	.	nonsynonymous SNV	SHISA8:NM_001207020:exon4:c.A1162G:p.R388G,SHISA8:NM_001353438:exon4:c.A1447G:p.R483G,SHISA8:NM_001353439:exon4:c.A1339G:p.R447G	.	431	1053	37	1	0	39	0.0181818	.	.	.	2819613	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0052	0	0	0	.	0.0168	0	0.0015	0.0004528	70	154602	rs756893043	0.0011	0.0011	0.0011	0.0012	0.0196	0.0011	0.0011	0.0166	0.0155	0.0012	0.0010	0.0166	0	0	0.0196	0.0007	0.0026	0.0011	0.0012	0.0012	0.0012	0.0012	0.0019	0.0010	0.0010	0.0010	0.0008	0.0003	0.0033	0.0010	0.0158	0	0	0.0204	0.0011	0.0028	0.0019	.	.	.	0.424	0.13953	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.17140	.	.	.	.	.	.	.	0.008136481	0.00185	T	.	.	.	.	.	.	.	0.631991100555	0.62898	0.1294892711660731	0.12873	.	.	0.441900193691	0.30837	T	.	.	.	-0.308221	0.07906	T	-0.271863	0.47630	T	.	.	.	0.50265	0.15781	T	0.33455953	0.55842	0.341038	0.59848	0.33455953	0.55842	0.341038	0.59848	-4.31	0.28316	T	.	.	0.108	0.20313	B	.	.	2.696450	0.35208	19.84	0.64420621177009363	0.07489	0.14849	0.18617	N	AEFDBCIJ	.	.	.	.	.	.	.	.	.	0.999979861925652	0.50053	0.256391	0.04301	0	0.274575	0.05135	0	0.183864	0.04481	0	0.109499	0.03221	0	0.145135	0.27050	3.8	2.63	0.30420	1.037000	0.29850	1.412000	0.26289	0.659000	0.54702	0.775000	0.29414	0.999000	0.35428	0.889000	0.42754	0.2262:0.1233:0.0:0.6505	2.706	0.04843	131	0.94738	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003559	0.020000	0.019231	0.017241	0.000000	0.000000	0.008065	0.000000	0.07143	1041.44	34	chr22	41909797	.	T	C	1041.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.213;DP=265;ExcessHet=0;FS=0.88;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-0.627;SOR=0.633	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1225	6	0	1	0
chr22	41925447	41925447	G	A	exonic	TNFRSF13C	.	nonsynonymous SNV	TNFRSF13C:NM_052945:exon3:c.C475T:p.H159Y	Immunodeficiency, common variable, 4, Autosomal recessive	1	1457	58	6	0	70	0.0234584	.	.	.	433980	Immunodeficiency,_common_variable,_4|not_provided	MONDO:MONDO:0013284,MedGen:C3150739,OMIM:613494,Orphanet:1572|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.170	.	0.0052	0.00339457	0.0056	0.0022	0.0075	0	0.0025	0.0068	0.0113	0.0056	0.0054462	842	154602	rs61756766	0.0058	0.0058	0.0056	0.0060	0.0175	0.0057	0.0057	0.0148	0.0137	0.0010	0.0071	0.0047	0	0.0028	0.0175	0.0063	0.0063	0.0053	0.0058	0.0058	0.0062	0.0054	0.0114	0.0055	0.0054	0.0100	0.0095	0.0014	0	0.0114	0.0049	0	0.0024	0.0102	0.0082	0.0123	0.0042	0.0	0.91255	D	0.0	0.92824	D	0.994	0.66517	D	0.782	0.57384	P	0.000050	0.53742	D	0.000000	0.977083	0.39334	D	1.845	0.48678	L	1.12	0.38718	T	-5.5	0.85844	D	0.577	0.59901	-0.9272	0.44545	T	0.107	0.39027	T	10	0.008018851	0.00182	T	.	.	.	0.170	0.43303	.	.	0.171220215726	0.16700	0.24987367141535083	0.24901	2.05243479993	0.94345	0.620077431202	0.55740	T	0.719618	0.92065	D	-0.243223	0.14939	T	-0.114188	0.62276	T	0.0335856785113751	0.02568	T	0.572743	0.20478	T	0.809143	0.84497	0.7438588	0.84860	0.809143	0.84498	0.7438588	0.84861	-5.305	0.39993	T	0.7740092395808532	0.85470	0.357	0.57003	A	.	.	4.121410	0.61610	24.4	0.99719896673004715	0.81984	0.79281	0.39256	D	AEFDGBCI	0.531585	0.55180	D	0.494203397348341	0.66748	4.990736	0.518743897306911	0.69252	5.333989	0.999999999999299	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	5.33	5.33	0.75683	3.829000	0.55461	11.413000	0.92696	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.726000	0.34967	0.0:0.0:1.0:0.0	14.897	0.70291	130	0.94779	.	.	.	.	.	rs61756766	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019134	0.025253	0.021798	0.032353	0.000000	0.008621	0.009146	0.011364	0.07143	387.45	39	chr22	41925447	.	G	A	387.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.15;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=-0.13;SOR=0.741	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr22	42086248	42086248	G	A	exonic	NDUFA6	.	nonsynonymous SNV	NDUFA6:NM_002490:exon3:c.C322T:p.H108Y	.	414	1070	37	1	0	39	0.0178981	.	.	.	215603	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.182	0.00650887435971	0.0036	0.00339457	0.0028	0.0074	0.0017	0	0	0.0034	0.0077	0.0008	0.0026261	406	154602	rs113437301	0.0017	0.0017	0.0017	0.0018	0.0199	0.0017	0.0016	0.0170	0.0159	0.0079	0.0021	0.0307	0	0	0.0199	0.0008	0.0046	0.0011	0.0037	0.0037	0.0038	0.0037	0.0073	0.0034	0.0033	0.0067	0.0064	0.0073	0.0033	0.0037	0.0288	0	0	0.0238	0.0011	0.0052	0.0019	.	.	.	0.115	0.36630	T	.	.	.	.	.	.	0.000001	0.62929	D	0.131299	0.999274	0.46519	D	.	.	.	.	.	.	.	.	.	0.179	0.23125	-0.7386	0.58524	T	0.220	0.58253	T	10	0.007718563	0.00175	T	0.006509	0.17157	T	0.182	0.45420	.	.	0.215869574891	0.21205	0.7120836117721743	0.71150	0.240868912627	0.26625	0.622457921505	0.56076	T	0.035167	0.23613	T	-0.316477	0.07190	T	-0.223508	0.52398	T	0.0155966509877632	0.00356	T	.	.	.	0.4964389	0.66885	0.66959906	0.80617	0.7058119	0.78377	0.63814104	0.78868	-6.719	0.51954	T	.	.	0.149	0.38263	B	.;.;.	.;.;.	3.598522	0.50813	23.0	0.99581292421025602	0.73040	0.93725	0.59013	D	AEFDBCIJ	0.748094	0.68995	D	0.270511061285913	0.54660	3.631111	0.44168999425464	0.64186	4.667936	0.999999466425253	0.74766	0.741895	0.98168	0	0.702456	0.74545	0	0.702456	0.68683	0	0.725737	0.93299	0	.	.	6.17	6.17	0.99707	5.603000	0.67304	9.943000	0.82671	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.474	0.99171	108	0.95573	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017120	0.015152	0.023098	0.040936	0.000000	0.008621	0.012195	0.003788	0.07143	1203.63	33	chr22	42086248	.	G	A	1203.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.24;DP=285;ExcessHet=0;FS=1.604;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.623;SOR=0.516	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1224	6	0	1	0
chr22	42128812	42128812	A	G	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon3:c.T485C:p.L162P,CYP2D6:NM_000106:exon4:c.T638C:p.L213P	.	1	1317	204	0	0	204	0.0718816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0602619546016	.	.	0.0034	0.0012	0.0015	0.0014	0.0018	0.0047	0.0040	0.0021	0.0023544	364	154602	rs199535154	0.0003	0.0094	0.0003	0.0003	0.0022	0.0002	0.0002	0.0013	0.0011	0.0015	0.0003	0.0004	0.0006	0.0006	0.0022	0.0002	0.0003	0.0003	0.0001	0.0016	6.523e-05	0.0002	0.0004	7.691e-05	6.376e-05	0.0001	8.654e-05	0.0002	0	0	0	0.0004	0	0	0.0001	0	0	0.016	0.72154	D	0.004	0.74150	D	.	.	.	.	.	.	0.079050	0.21007	N	0.393637	0.984414	0.40142	D	3.135	0.88152	M	-1.43	0.80730	T	-5.73	0.87611	D	0.817	0.81261	0.414	0.89311	D	0.663	0.88295	D	10	0.12101528	0.22933	T	0.060262	0.67943	D	0.557	0.81774	.	.	0.906819982349	0.90588	0.8191287958858098	0.81869	0.67802315983	0.59861	0.312496066093	0.12283	T	0.044594	0.40051	T	0.029515	0.55659	T	0.219179	0.84132	D	0.250423282384872	0.22892	T	0.739826	0.35853	T	0.5728783	0.71218	0.38634163	0.63529	0.5728783	0.71219	0.38634163	0.63529	-9.555	0.71201	D	.	.	0.479	0.69738	A	.;.;.;.;.	.;.;.;.;.	3.184167	0.43231	21.7	0.99267575361889293	0.57423	0.11286	0.16533	N	AEFDBI	0.398871	0.47438	N	0.0379738385441093	0.43589	2.64896	-0.230169009795182	0.30461	1.715271	5.06273264100705E-4	0.07176	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.52	3.52	0.39415	2.920000	0.48541	1.949000	0.29874	-0.094000	0.16080	0.013000	0.18845	0.000000	0.08366	0.000000	0.00833	1.0:0.0:0.0:0.0	8.696	0.33455	106	0.95650	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018182	0.005747	0.016484	0.050420	0.000000	0.043860	0.003546	0.004065	0.3571	2310.13	116	chr22	42128812	.	A	G	2310.13	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.178;DP=771;ExcessHet=4.7409;FS=10.746;MLEAC=5;MLEAF=0.357;MQ=51.48;MQRankSum=-5.697;QD=3.19;ReadPosRankSum=-4.081;SOR=1.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,12:167:37:0|1:42128812_A_G:37,0,6453:42128812	2	0	5	0
chr22	42128849	42128849	G	T	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon3:c.C448A:p.R150S,CYP2D6:NM_000106:exon4:c.C601A:p.R201S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0191161715555	.	.	0.0003	0.0002	0.0001	0	0	6.986e-05	0.0016	0.0016	.	.	.	rs774982812	6.738e-05	0.0001	2.051e-05	0.0001	0.0008	5.657e-05	5.198e-05	0.0006	0.0006	0.0001	0	0	0	0	0.0002	2.166e-05	6.661e-05	0.0008	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.249	0.17183	T	0.535	0.12107	T	.	.	.	.	.	.	0.643648	0.05882	N	1.221350	1	0.08975	N	1.89	0.50145	L	-0.29	0.67712	T	-1.43	0.35792	N	0.203	0.22486	-0.9473	0.41431	T	0.215	0.57626	T	10	0.06989348	0.10092	T	0.019116	0.41395	T	0.246	0.55340	.	.	0.324161360171	0.32030	0.5173619556389261	0.51659	0.135504829808	0.15275	0.215786740184	0.01081	T	0.004115	0.19053	T	-0.0845906	0.38967	T	-0.359285	0.38136	T	0.0521561838686466	0.05873	T	0.205379	0.18668	T	0.39107287	0.60108	0.121135496	0.29231	0.39107287	0.60109	0.121135496	0.29230	-7.294	0.58478	T	.	.	0.210	0.46619	B	.;.;.;.;.	.;.;.;.;.	0.412748	0.07838	4.531	0.72402539884290718	0.09961	0.02339	0.06686	N	AEFDBI	0.317622	0.42156	N	-1.25766900973309	0.04199	0.1890812	-1.4018528751687	0.03233	0.1504276	3.7690518559995E-4	0.06745	0.615465	0.37627	0	0.633656	0.55848	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.37	-3.18	0.04867	-1.946000	0.01626	-1.192000	0.06066	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3509:0.1555:0.2971:0.1966	0.475	0.00501	106	0.95650	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1159.44	126	chr22	42128849	.	G	T	1159.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.379;DP=913;ExcessHet=0;FS=3.845;MLEAC=1;MLEAF=0.071;MQ=49.57;MQRankSum=-2.574;QD=4.51;ReadPosRankSum=1.69;SOR=0.486	GT:AD:DP:GQ:PL	0/0:175,0:175:99:0,120,1800	6	0	1	0
chr22	42129036	42129036	A	C	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_000106:exon3:c.T502G:p.S168A	.	1	1438	82	1	0	84	0.0283784	.	.	.	2335774	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.226	0.0374404408606	.	.	5.046e-05	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs1135826	7.432e-05	0.0003	6.98e-05	7.889e-05	0.0014	6.285e-05	5.842e-05	0.0007	0.0005	3.025e-05	6.805e-05	0.0002	0	0	0.0014	4.063e-05	0.0003	0.0003	0.0002	0.0014	0.0001	0.0002	0.0002	0.0001	8.847e-05	0.0001	0.0001	0.0002	0	6.584e-05	0	0	0	0.0034	0.0002	0	0	1.0	0.00964	T	0.807	0.04129	T	.	.	.	.	.	.	0.001903	0.00839	N	3.539820	1	0.08975	N	-0.73	0.01772	N	-1.27	0.79277	T	0.16	0.05217	N	0.128	0.13341	-0.7799	0.56308	T	0.115	0.40740	T	10	0.08526772	0.14379	T	0.03744	0.57615	D	0.226	0.52472	0.373	0.38503	0.298056030225	0.29408	0.21059068015497262	0.20975	0.0911008931681	0.10288	0.420034706593	0.27840	T	7.8E-4	0.03040	T	-0.140885	0.29750	T	-0.440148	0.28791	T	0.0133200469642442	0.00239	T	0.146485	0.01205	T	0.18169317	0.39352	0.08126632	0.18454	0.18169317	0.39351	0.08126632	0.18454	-1.576	0.01927	T	.	.	0.070	0.03625	B	.;.;.;.	.;.;.;.	-0.970736	0.00813	0.027	0.31847947949166644	0.01816	0.00025	0.00253	N	AEFDGBI	0.083503	0.16918	N	-2.07234760809253	0.00147	0.006303923	-1.9906736949729	0.00321	0.01415437	3.76170252761087E-4	0.06745	0.580535	0.33130	0	0.550933	0.16991	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.22	-0.285	0.12229	-0.679000	0.05304	-1.696000	0.04897	-2.376000	0.00301	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4003:0.4827:0.0:0.117	4.833	0.12812	106	0.95650	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.1429	247.34	48	chr22	42129036	.	A	C	247.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.5;DP=469;ExcessHet=0.3476;FS=32.513;MLEAC=2;MLEAF=0.143;MQ=57.82;MQRankSum=-6.27;QD=1.63;ReadPosRankSum=-0.221;SOR=4.971	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:102,0:102:99:.:.:0,120,1800:.	5	0	2	0
chr22	42129037	42129037	G	T	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_000106:exon3:c.C501A:p.H167Q	.	1	1438	82	1	0	84	0.0283784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.0114433325274	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1135825	6.054e-05	0.0003	6.431e-05	5.673e-05	0.0016	4.989e-05	4.653e-05	0.0008	0.0006	3.024e-05	4.533e-05	0.0002	0	0	0.0016	3.43e-05	0.0003	0.0001	0.0001	0.0014	0.0001	0.0002	0.0002	9.849e-05	8.347e-05	0.0001	0.0001	0.0002	0	6.569e-05	0	0	0	0.0034	0.0001	0	0	0.613	0.05420	T	0.754	0.06469	T	.	.	.	.	.	.	0.019125	0.01504	N	2.373600	1	0.18612	N	0.105	0.08473	N	-0.24	0.66834	T	-0.26	0.11185	N	0.128	0.12198	-0.9863	0.33518	T	0.097	0.36522	T	10	0.033819586	0.01569	T	0.011443	0.29067	T	0.107	0.30369	0.325	0.30711	0.284150004643	0.28039	0.2862462233970812	0.28537	0.111660899099	0.12603	0.421149164438	0.27995	T	7.32E-4	0.02125	T	-0.147423	0.28716	T	-0.44954	0.27747	T	0.0312476026732281	0.02185	T	0.392161	0.19325	T	0.15265977	0.34644	0.10768169	0.25927	0.15265977	0.34643	0.10768169	0.25927	-4.958	0.36381	T	.	.	0.150	0.33133	B	.;.;.;.	.;.;.;.	-1.649188	0.00217	0.003	0.53561482879806321	0.04964	0.01961	0.05950	N	AEFDGBI	0.236213	0.35870	N	-2.59474423185388	0.00009	0.0004161119	-2.63484367521019	0.00011	0.0004984315	0.599001188279606	0.21710	0.580535	0.33130	0	0.550933	0.16991	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.22	-6.44	0.01749	-3.995000	0.00358	-5.233000	0.01796	-0.839000	0.02805	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3374:0.1501:0.3861:0.1264	2.157	0.03582	106	0.95650	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	247.34	48	chr22	42129037	.	G	T	247.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=4.47;DP=464;ExcessHet=0.3476;FS=32.513;MLEAC=2;MLEAF=0.143;MQ=57.75;MQRankSum=-6.27;QD=1.63;ReadPosRankSum=-0.409;SOR=4.971	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:102,0:102:99:.:.:0,120,1800:.	5	0	2	0
chr22	42129042	42129042	T	C	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_000106:exon3:c.A496G:p.N166D	.	2	1511	9	0	0	9	0.00296932	.	.	.	656700	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.103	0.0245862742971	.	.	0.0002	0.0002	0.0005	0.0001	0.0005	4.396e-05	0	0.0003	0.00011	17	154602	rs1135824	0.0001	0.0003	0.0001	0.0001	0.0020	0.0001	0.0001	0.0011	0.0008	9.048e-05	0.0003	0.0002	0.0002	0	0.0020	0.0001	0.0004	0.0004	0.0003	0.0012	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0003	0.0006	0	0.0001	0	0	0	0.0034	0.0002	0	0.0006	1.0	0.00964	T	0.757	0.04754	T	.	.	.	.	.	.	0.474336	0.04944	N	1.380140	1	0.08975	N	0.09	0.08384	N	-0.26	0.67187	T	1.04	0.01332	N	0.143	0.14338	-0.9579	0.39571	T	0.087	0.33857	T	10	0.025670886	0.00754	T	0.024586	0.47577	T	0.103	0.29403	.	.	0.306053231325	0.30222	0.22007910192364	0.21923	0.126638767922	0.14272	0.453449010849	0.32415	T	7.79E-4	0.02566	T	-0.206682	0.19850	T	-0.534661	0.18824	T	0.00440964108990425	0.00047	T	0.0872913	0.00642	T	0.122405104	0.28764	0.09800443	0.23349	0.122405104	0.28764	0.09800443	0.23348	-1.013	0.01014	T	.	.	0.075	0.05447	B	.;.;.;.	.;.;.;.	-0.597925	0.01577	0.105	0.42984243424574509	0.03205	0.00017	0.00201	N	AEFDGBI	0.077864	0.15696	N	-1.5581826313759	0.01487	0.06492825	-1.50083743763418	0.02339	0.1073898	5.92233934160642E-4	0.07414	0.580535	0.33130	0	0.550933	0.16991	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.22	2.15	0.26590	-1.954000	0.01616	-1.114000	0.06289	-1.927000	0.00502	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2321:0.6389:0.0:0.1289	3.950	0.08862	106	0.95650	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002134	0.000000	0.000000	0.012397	0.000000	0.000000	0.000000	0.003788	0.07143	183.46	48	chr22	42129042	.	T	C	183.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.684;DP=452;ExcessHet=0;FS=18.64;MLEAC=1;MLEAF=0.071;MQ=57.95;MQRankSum=-7.673;QD=2.16;ReadPosRankSum=-0.203;SOR=3.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:102,0:102:99:.:.:0,120,1800:.	6	0	1	0
chr22	42140383	42140383	G	A	exonic	CYP2D7	.	unknown	UNKNOWN	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.316e-05	0	0	0	0	0	0	0.0001	2.59e-05	4	154602	rs765764978	2.769e-05	2.941e-05	1.543e-05	4.024e-05	0.0004	2.073e-05	1.82e-05	0.0003	0.0003	0	2.753e-05	0	0	0	0	2.766e-06	3.427e-05	0.0004	3.942e-05	3.936e-05	2.571e-05	5.375e-05	0.0006	1.715e-05	1.129e-05	0.0002	9.003e-05	4.815e-05	0	0	0	0	0	0	1.471e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	395.45	41	chr22	42140383	.	G	A	395.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.52;DP=239;ExcessHet=0;FS=1.485;MLEAC=1;MLEAF=0.071;MQ=57.13;MQRankSum=-1.056;QD=13.64;ReadPosRankSum=-1.703;SOR=1.11	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr22	42141910	42141910	T	G	exonic	CYP2D7	.	unknown	UNKNOWN	.	1	1466	53	2	0	57	0.0190699	.	.	.	2819621	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0058	0.0063	0.0031	0.0011	0.0002	0.0045	0.0087	0.0159	0.0037322	577	154602	rs199515619	0.0022	0.0024	0.0022	0.0023	0.0202	0.0022	0.0022	0.0172	0.0161	0.0071	0.0027	0.0317	0.0068	0.0004	0.0202	0.0011	0.0046	0.0028	0.0036	0.0037	0.0035	0.0037	0.0059	0.0034	0.0033	0.0053	0.0050	0.0059	0.0033	0.0039	0.0306	0.0016	0.0005	0.0238	0.0013	0.0043	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	1157.45	56	chr22	42141910	.	T	G	1157.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.895;DP=517;ExcessHet=0;FS=1.507;MLEAC=1;MLEAF=0.071;MQ=55.77;MQRankSum=-7.619;QD=10.06;ReadPosRankSum=-1.341;SOR=0.509	GT:AD:DP:GQ:PL	0/0:82,0:82:99:0,120,1800	6	0	1	0
chr22	42142544	42142544	G	T	exonic	CYP2D7	.	unknown	UNKNOWN	.	0	1521	0	1	0	2	0.00065703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	.	.	.	0.0011	0.0010	0.0014	0	0	0.0005	0.0076	0.0023	.	.	.	rs768412534	0.0001	0.0002	7.609e-05	0.0002	0.0011	0.0001	0.0001	0.0009	0.0009	0.0005	4.754e-05	0	0	0	0.0007	6.006e-05	0.0003	0.0011	0.0002	0.0002	5.141e-05	0.0003	0.0023	0.0001	9.238e-05	0.0013	0.0010	0.0002	0	0	0	0	0	0.0034	5.882e-05	0	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	0.631300	0.05814	N	1.231090	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.13198	-1.0162	0.24948	T	0.046	0.19680	T	8	0.014012307	0.00295	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	.	.	.	.	.	.	.	0.028276	0.20519	T	-0.746996	0.00019	T	-0.886317	0.00604	T	0.016337875276804	0.00403	T	0.380262	0.09172	T	0.10906365	0.25786	0.05225052	0.08571	0.10906365	0.25786	0.05225052	0.08571	-7.273	0.56003	T	.	.	0.194	0.43653	B	.;.	.;.	6.528878	0.95355	34	0.94920503821113722	0.25793	0.00919	0.03578	N	AEFDGBI	0.030867	0.03188	N	-0.787275739174706	0.13640	0.6734604	-0.988665404427139	0.10039	0.5031472	0.136244163243197	0.17187	0.090766	0.02384	0	0.130567	0.03505	0	0.129117	0.03641	0	0.083433	0.02327	0	.	.	3.82	-1.84	0.07387	-1.551000	0.02282	-6.398000	0.01409	0.553000	0.28181	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.2584:0.1562:0.2803:0.3051	0.214	0.00149	106	0.95650	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	430.44	42	chr22	42142544	.	G	T	430.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.26;DP=467;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=42.81;MQRankSum=-3.51;QD=4.18;ReadPosRankSum=-0.415;SOR=0.765	GT:AD:DP:GQ:PL	0/0:119,0:119:99:0,120,1800	6	0	1	0
chr22	42142559	42142559	C	T	exonic	CYP2D7	.	unknown	UNKNOWN	.	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	.	.	.	4.096e-05	0	0.0014	0	0	0	0	0	.	.	.	rs762878819	1.406e-05	1.368e-05	1.254e-05	1.561e-05	0.0002	9.19e-06	7.47e-06	3.15e-05	2.139e-05	0	0	0	0	0	0.0002	9.16e-06	5.092e-05	7.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248152	0.15566	N	0.629307	.	.	.	.	.	.	.	.	.	.	.	.	0.431	0.57006	-0.3682	0.73016	T	0.325	0.69324	T	8	0.08866772	0.15288	T	.	.	.	.	.	.	.	0.0611884634855	0.05136	.	.	.	.	.	.	.	0.073867	0.34802	T	-0.260899	0.12795	T	-0.489996	0.23390	T	0.529760837554932	0.33725	D	0.878612	0.60074	D	0.049877282	0.08925	0.07492915	0.16445	0.049877282	0.08925	0.07492915	0.16444	-9.183	0.68868	D	.	.	0.151	0.33504	B	.;.	.;.	2.379249	0.30541	18.47	0.98767749809682481	0.45924	0.27270	0.23230	N	AEFDGBI	0.163333	0.28961	N	-0.285586253640596	0.29703	1.649647	-0.412060637678876	0.24644	1.350615	0.984047583918621	0.30654	0.092769	0.02424	0	0.130567	0.03505	0	0.072005	0.02045	0	0.083433	0.02327	0	.	.	3.82	3.82	0.43153	0.640000	0.24394	-0.109000	0.11851	-0.305000	0.06155	0.007000	0.17678	0.000000	0.08366	0.001000	0.02609	0.0:1.0:0.0:0.0	11.466	0.49483	106	0.95650	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	215.44	42	chr22	42142559	.	C	T	215.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.38;DP=459;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=52.11;MQRankSum=-1.127;QD=11.97;ReadPosRankSum=-0.4;SOR=0.693	GT:AD:DP:GQ:PL	0/0:119,0:119:99:0,120,1800	6	0	1	0
chr22	42144376	42144376	G	T	exonic	CYP2D7	.	unknown	UNKNOWN	.	0	1511	10	1	0	12	0.00395517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	.	.	0.00199681	0.0017	0.0056	0.0020	0	0	0.0014	0.0117	0.0008	0.0009508	147	154602	rs530621369	0.0007	0.0007	0.0007	0.0008	0.0073	0.0007	0.0007	0.0056	0.0049	0.0048	0.0016	0.0025	0	0	0.0073	0.0005	0.0019	0.0005	0.0022	0.0022	0.0023	0.0022	0.0050	0.0020	0.0019	0.0045	0.0043	0.0050	0	0.0048	0.0017	0	0	0	0.0005	0.0047	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	0.506417	0.11891	N	0.718797	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.38438	-0.5917	0.65152	T	0.266	0.63706	T	6	0.007003188	0.00159	T	.	.	.	.	.	.	.	0.190952846119	0.18690	.	.	.	.	.	.	.	0.040417	0.25519	T	-0.208165	0.19638	T	-0.0704249	0.65596	T	0.0443503099861141	0.04484	T	0.912309	0.70062	D	0.21790965	0.44285	0.24792881	0.50334	0.21790965	0.44285	0.24792881	0.50333	-11.884	0.84281	D	.	.	0.190	0.40826	B	.;.	.;.	3.130510	0.42301	21.5	0.9828430866869643	0.39889	0.77481	0.38100	D	AEFDBI	0.087155	0.17672	N	0.0136843497469711	0.42478	2.56007	-0.0395135469626049	0.37947	2.228878	0.110315647364103	0.16629	0.090766	0.02384	0	0.130567	0.03505	0	0.129117	0.03641	0	0.079188	0.02158	0	.	.	3.02	3.02	0.33970	2.039000	0.40815	3.312000	0.37472	0.634000	0.51959	0.409000	0.26241	0.988000	0.31051	0.073000	0.16832	0.0:0.0:1.0:0.0	9.836	0.40139	106	0.95650	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	553.63	65	chr22	42144376	.	G	T	553.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.973;DP=261;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.63;MQRankSum=0.874;QD=8.52;ReadPosRankSum=2.29;SOR=0.74	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	6	0	1	0
chr22	42514305	42514305	C	A	splicing	RRP7A	NM_015703:exon6:c.559-1G>T	.	.	.	.	.	.	.	.	.	.	1.0000	0.844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0899406	0.63183	D	-0.108583	0.62724	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.790457	0.77735	26.8	0.9872903343392897	0.45318	0.95139	0.63581	D	AEFGBCI	.	.	.	0.80538703882862	0.86442	8.886916	0.558000330692622	0.71958	5.734454	0.99998548162519	0.51787	0.256867	0.04430	0	0.271743	0.05004	0	0.087233	0.02907	0	0.089868	0.02511	0	0.802683	0.47544	3.8	3.8	0.42887	5.872000	0.69384	7.361000	0.58346	0.426000	0.20854	1.000000	0.71638	1.000000	0.68203	0.031000	0.13245	0.0:1.0:0.0:0.0	16.018	0.80260	216	0.91608	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	40.4	18	chr22	42514305	.	C	A	40.4	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.623;DP=83;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=56.71;MQRankSum=-0.524;QD=4.04;ReadPosRankSum=0;SOR=1.609	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,900	5	0	1	1
chr22	42627336	42627336	G	A	exonic	CYB5R3	.	nonsynonymous SNV	CYB5R3:NM_000398:exon7:c.C601T:p.H201Y,CYB5R3:NM_001129819:exon7:c.C532T:p.H178Y,CYB5R3:NM_001171660:exon7:c.C700T:p.H234Y,CYB5R3:NM_007326:exon7:c.C532T:p.H178Y,CYB5R3:NM_001171661:exon8:c.C532T:p.H178Y	Methemoglobinemia, type I, Autosomal recessive;Methemoglobinemia, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.0363357384185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.023	0.57104	D	0.0	0.02946	B	0.006	0.12133	B	0.599130	0.10975	N	0.849915	0.977705	0.27598	N	0.625	0.15840	N	-2.14	0.86415	D	-2.39	0.53096	N	0.323	0.36674	-0.4737	0.69594	T	0.406	0.75550	T	10	0.24845171	0.42142	T	0.036336	0.56926	D	0.131	0.35738	0.474	0.55020	0.850653393448	0.84922	0.4023685022509995	0.40152	0.0841933520624	0.09501	0.437512814999	0.30238	T	0.253934	0.62452	T	-0.0444815	0.45283	T	-0.301671	0.44548	T	0.19531401077616	0.20153	T	0.956938	0.83632	D	0.13630065	0.31601	0.122700125	0.29595	0.13630065	0.31601	0.122700125	0.29594	-7.662	0.59747	D	0.2454247125663213	0.33241	0.097	0.20741	B	.;.;.;.;.	.;.;.;.;.	3.449387	0.48029	22.5	0.9852826154922012	0.42558	0.73655	0.36028	D	AEFDBI	0.300642	0.40938	N	-0.413711323514241	0.24988	1.353201	-0.378639169597478	0.25635	1.410964	0.999299543577541	0.39042	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.69	2.67	0.30756	0.852000	0.27417	7.393000	0.58525	0.672000	0.70159	0.604000	0.27780	1.000000	0.68203	0.933000	0.47100	0.1045:0.1793:0.5317:0.1844	2.701	0.04831	263	0.89692	.;Oxidoreductase FAD/NAD(P)-binding;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	398.44	53	chr22	42627336	.	G	A	398.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.809;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.52;ReadPosRankSum=-1.538;SOR=0.555	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1138	6	0	1	0
chr22	43063848	43063848	C	T	exonic	TTLL1	.	nonsynonymous SNV	TTLL1:NM_012263:exon7:c.G712A:p.V238I	.	430	1091	1	0	0	1	0.000458085	.	.	.	2675488	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.208	0.0107362476435	7.7e-05	.	9.884e-05	0	0.0003	0	0	0.0001	0	6.056e-05	8.41e-05	13	154602	rs371253934	8.278e-05	8.277e-05	7.351e-05	9.214e-05	0.0004	7.069e-05	6.619e-05	0.0002	0.0002	0	0.0004	0	0	0	0.0003	8.004e-05	0.0002	4.638e-05	0.0001	0.0001	0.0002	5.373e-05	0.0003	7.088e-05	5.745e-05	8.881e-05	5.995e-05	2.406e-05	0	0.0003	0	0	0	0.0034	0.0001	0.0005	0	0.424	0.15047	T	0.422	0.14034	T	0.195	0.29512	B	0.079	0.28749	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.45	0.12780	N	3.33	0.06138	T	-0.37	0.13226	N	0.311	0.36989	-0.9278	0.44458	T	0.017	0.07045	T	10	0.2563215	0.43035	T	0.010736	0.27620	T	0.208	0.49714	.	.	0.328486982098	0.32448	0.4681414140918941	0.46733	0.458185105875	0.45435	0.854708373547	0.90323	D	0.085637	0.37547	T	-0.318831	0.06994	T	-0.389778	0.34577	T	0.0423076051019963	0.04110	T	0.960304	0.85063	D	0.10018793	0.23654	0.10727005	0.25821	0.10018793	0.23654	0.10727005	0.25820	-3.455	0.33537	T	.	.	0.137	0.40810	B	.;.	.;.	3.330561	0.45847	22.2	0.99616649603842267	0.75172	0.97213	0.73358	D	AEFBI	0.612588	0.60060	D	0.055992906842106	0.44418	2.716294	0.251102864237304	0.52711	3.444216	0.999999999858903	0.74766	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.98	5.98	0.97147	5.812000	0.68868	4.775000	0.44799	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.617	0.91262	744	0.52588	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1278.44	37	chr22	43063848	.	C	T	1278.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.69;DP=307;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-0.947;SOR=0.771	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,99,1485:.	6	0	1	0
chr22	43129229	43129246	TGCTGCTGGCGCTGCTGC	-	exonic	BIK	.	nonframeshift deletion	BIK:NM_001197:exon5:c.407_424del:p.L143_L148del	.	0	221	5	0	0	5	0.0111857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0160	.	0.0063	0.0116	0.0069	0.0018	0.0039	0.0049	0.0125	0.0115	0.0001921	5	26028	rs759887547	0.0048	0.0048	0.0044	0.0052	0.0276	0.0047	0.0047	0.0239	0.0226	0.0134	0.0084	0.0224	0.0017	0.0047	0.0276	0.0032	0.0079	0.0127	0.0077	0.0078	0.0078	0.0076	0.0122	0.0073	0.0072	0.0113	0.0110	0.0122	0	0.0118	0.0228	0.0019	0.0041	0.0442	0.0040	0.0099	0.0102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	472.59	34	chr22	43129228	.	GTGCTGCTGGCGCTGCTGC	G	472.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.08;DP=288;ExcessHet=0;FS=4.506;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.59;ReadPosRankSum=1.32;SOR=1.595	GT:AD:DP:GQ:PL	0/1:40,15:55:99:483,0,1597	6	0	1	0
chr22	43129256	43129256	C	T	exonic	BIK	.	nonsynonymous SNV	BIK:NM_001197:exon5:c.C434T:p.A145V	.	415	1090	14	0	3	17	0.00638104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	0.0025	0.00339457	0.0042	0.0011	0.0029	0	0.0005	0.0064	0.0074	0.0018	0.003868	598	154602	rs148407250	0.0049	0.0049	0.0049	0.0049	0.0096	0.0048	0.0048	0.0076	0.0068	0.0009	0.0039	0.0065	0	0.0003	0.0096	0.0056	0.0052	0.0020	0.0038	0.0038	0.0041	0.0036	0.0071	0.0036	0.0035	0.0060	0.0056	0.0008	0	0.0071	0.0096	0.0002	0.0002	0.0069	0.0057	0.0048	0.0013	0.596	0.05703	T	1.0	0.01155	T	0.113	0.26349	B	0.05	0.25278	B	0.145427	0.02919	N	2.124800	0.961926	0.26087	N	0.55	0.14455	N	1.9	0.23486	T	0.96	0.01488	N	0.108	0.09349	-1.0255	0.21919	T	0.024	0.10103	T	10	0.004980862	0.00107	T	.	.	.	0.056	0.15993	.	.	0.202949470691	0.19918	0.009953428289389917	0.00957	0.0336267795191	0.03527	0.306395083666	0.11363	T	0.088783	0.38232	T	-0.611504	0.00124	T	-0.648131	0.09084	T	0.0113428626977373	0.00168	T	0.309269	0.05988	T	0.020216616	0.00573	0.037289545	0.03352	0.020216616	0.00573	0.037289545	0.03352	-3.414	0.15245	T	.	.	0.114	0.22825	B	.	.	1.331438	0.17365	13.12	0.99046876665381955	0.51162	0.00593	0.02656	N	ALL	0.028383	0.02490	N	-0.896321564513598	0.10929	0.5247801	-0.822752233153428	0.13945	0.7260938	0.9999989973616	0.74766	0.495158	0.18159	0	0.519925	0.08708	0	0.535252	0.11790	0	0.613276	0.41899	0	.	.	4.64	3.61	0.40494	-0.124000	0.10571	-0.706000	0.07772	-1.157000	0.01417	0.002000	0.15269	0.001000	0.17328	0.002000	0.04165	0.0:0.1045:0.0:0.8955	7.253	0.25337	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011593	0.010204	0.006793	0.008772	0.000000	0.035088	0.018293	0.011364	0.08333	569.47	31	chr22	43129256	.	C	T	569.47	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.413;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=2.02;SOR=0.616	GT:AD:DP:GQ:PL	./.:50,0:50:0:0,0,1106	5	0	1	1
chr22	43133441	43133441	G	A	exonic	MCAT	.	nonsynonymous SNV	MCAT:NM_173467:exon4:c.C775T:p.R259C	.	.	.	.	.	.	.	.	.	.	.	2819640	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.524	0.0495367402914	.	.	0.0001	0	0	0.0001	0	9.929e-05	0	0.0003	7.76e-05	12	154602	rs201441121	7.8e-05	7.867e-05	6.944e-05	8.666e-05	0.0007	6.601e-05	6.144e-05	0.0003	0.0003	2.988e-05	2.242e-05	0	2.519e-05	0	0.0007	5.936e-05	8.281e-05	0.0004	8.537e-05	8.53e-05	0.0001	6.714e-05	0.0002	4.954e-05	3.96e-05	2.846e-05	1.858e-05	2.406e-05	0	0	0	0.0002	0	0	7.349e-05	0.0028	0	0.002	0.72154	D	0.001	0.83351	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.105	0.87672	M	0.83	0.47815	T	-6.04	0.89759	D	0.804	0.79986	0.094	0.84066	D	0.416	0.76292	T	10	0.84816873	0.83987	D	0.049537	0.63854	D	0.524	0.79825	0.707	0.84327	0.801681314988	0.79982	0.7885807167013701	0.78810	1.1864892588	0.80157	0.55296933651	0.46276	T	0.567607	0.85630	D	0.0426068	0.57386	T	0.129402	0.78852	D	0.900480985641479	0.55301	D	0.921408	0.71494	D	0.79520047	0.83601	0.62426895	0.78102	0.79520047	0.83602	0.62426895	0.78103	-13.171	0.90055	D	.	.	0.257	0.49127	B	.	.	5.468095	0.91244	32	0.99924372900653191	0.98980	0.92265	0.55315	D	AEFDBCIJ	0.557417	0.56705	D	0.743290230822003	0.82468	7.769793	0.604279741728135	0.75249	6.27748	0.999951940957524	0.48110	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.26	4.14	0.47821	3.109000	0.50037	9.321000	0.80045	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.690000	0.33838	0.0:0.0:0.8177:0.1823	15.287	0.73537	809	0.43032	Acyl transferase|Polyketide synthase, acyl transferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001362	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	569.46	36	chr22	43133441	.	G	A	569.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.094;DP=267;ExcessHet=0;FS=1.052;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.76;ReadPosRankSum=-1.027;SOR=0.513	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	6	0	1	0
chr22	43537405	43537406	CT	-	exonic	EFCAB6	.	frameshift deletion	EFCAB6:NM_198856:exon27:c.3563_3564del:p.Q1188Rfs*43,EFCAB6:NM_022785:exon29:c.4019_4020del:p.Q1340Rfs*43	.	434	1082	6	0	0	6	0.00276498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0059	0.00559105	0.0070	0.0010	0.0026	0.0107	0.0136	0.0091	0.0088	0.0008	0.001191	31	26028	rs3833393	0.0060	0.0060	0.0058	0.0062	0.0101	0.0059	0.0059	0.0093	0.0090	0.0012	0.0033	0.0042	0.0101	0.0151	0.0050	0.0061	0.0057	0.0011	0.0067	0.0067	0.0064	0.0070	0.0147	0.0064	0.0062	0.0121	0.0111	0.0013	0.0110	0.0041	0.0055	0.0147	0.0151	0.0170	0.0090	0.0061	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007056	0.015152	0.009511	0.005848	0.000000	0.000000	0.003049	0.003788	0.07143	1559.5	33	chr22	43537404	.	CCT	C	1559.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.506;DP=274;ExcessHet=0;FS=10.427;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.72;ReadPosRankSum=1.28;SOR=1.256	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1123	6	0	1	0
chr22	43765381	43765381	T	A	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_022785:exon5:c.A364T:p.T122S	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0071	0.00139776	0.0070	0.0010	0.0049	0	0.0057	0.0111	0.0045	0.0002	0.0068757	1063	154602	rs34459061	0.0090	0.0090	0.0094	0.0085	0.0104	0.0088	0.0088	0.0102	0.0102	0.0015	0.0060	0.0172	2.525e-05	0.0058	0.0007	0.0104	0.0074	0.0003	0.0070	0.0071	0.0073	0.0068	0.0099	0.0067	0.0066	0.0093	0.0091	0.0017	0.0526	0.0087	0.0193	0	0.0049	0	0.0099	0.0114	0	0.848	0.02753	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.424463	0.12828	N	0.708126	1	0.81001	D	-2.19	0.00126	N	1.82	0.25018	T	0.52	0.02853	N	0.086	0.07949	-0.9785	0.35345	T	0.008	0.02926	T	10	0.0036314428	0.00066	T	.	.	.	0.030	0.07022	0.335	0.32329	0.167679373172	0.16340	0.11220863348565291	0.11149	0.050289316464	0.05517	0.278401970863	0.07271	T	9.35E-4	0.00486	T	-0.667604	0.00057	T	-0.721356	0.04730	T	0.00442526136119251	0.00047	T	0.317668	0.06361	T	0.01921504	0.00448	0.026221674	0.00700	0.01921504	0.00448	0.026221674	0.00700	-2.416	0.05232	T	.	.	0.075	0.08272	B	.;.	.;.	-0.239309	0.02897	0.416	0.2138202325986811	0.00812	0.48125	0.28137	N	AEFDI	0.140390	0.26228	N	-1.3891362336203	0.02739	0.1213854	-1.1870789575731	0.06125	0.2938617	1.2972034052915E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.34	0.998	0.18975	0.033000	0.13642	0.002000	0.13306	-0.770000	0.03453	0.977000	0.34929	0.847000	0.27355	0.071000	0.16709	0.178:0.1013:0.1852:0.5355	1.362	0.02061	917	0.20147	DJBP, EF-hand domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	315.46	39	chr22	43765381	.	T	A	315.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.176;DP=208;ExcessHet=0;FS=1.483;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-1.426;SOR=0.368	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1086	6	0	1	0
chr22	43889909	43889909	T	C	exonic	PNPLA5	.	nonsynonymous SNV	PNPLA5:NM_001371410:exon3:c.A5G:p.Q2R	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.883e-07	3.42e-06	1.368e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	484.63	40	chr22	43889909	.	T	C	484.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.123;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=-1.473;SOR=0.656	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	6	0	1	0
chr22	44822469	44822469	G	C	exonic	ARHGAP8;PRR5-ARHGAP8	.	nonsynonymous SNV	ARHGAP8:NM_001198726:exon6:c.G485C:p.R162P,ARHGAP8:NM_181335:exon6:c.G485C:p.R162P,ARHGAP8:NM_001017526:exon7:c.G578C:p.R193P,PRR5-ARHGAP8:NM_181334:exon9:c.G878C:p.R293P	.	0	225	1	0	0	1	0.00221729	0.9822	0.64	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	.	.	.	8.287e-06	0	0	0	0	1.503e-05	0	0	3.84e-05	1	26028	rs1383604244	5.509e-05	5.336e-05	4.97e-05	6.056e-05	7.071e-05	4.473e-05	4.133e-05	5.741e-05	5.305e-05	0	0	0	0	0	0	7.071e-05	0	0	6.577e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.054	0.48186	T	0.121	0.40747	T	0.49	0.68779	P	0.195	0.65306	B	0.009431	0.30364	U	0.000000	0.97607	0.39244	D	2.855	0.82945	M	-0.0	0.62608	T	-2.4	0.61129	N	0.757	0.75559	-0.4849	0.69191	T	0.311	0.68175	T	10	0.66999304	0.70655	D	0.086757	0.74801	D	0.330	0.65226	0.518	0.61915	0.62434799699	0.62129	0.8165361369984372	0.83273	.	.	0.322178930044	0.13751	T	0.248256	0.61802	T	0.0769329	0.61679	D	-0.0304136	0.68341	D	0.707217752933502	0.41064	D	0.913709	0.78488	D	0.50329417	0.67288	0.51605105	0.72038	0.50329417	0.67289	0.51605105	0.72038	-7.388	0.66713	T	.	.	0.495	0.71435	A	.;.;.;.;.	.;.;.;.;.	4.300194	0.65647	24.9	0.99317256889906447	0.59241	0.79603	0.39477	D	AEFBCI	0.595833	0.59023	D	-0.127228680034372	0.36209	2.089944	-0.158708201806871	0.33075	1.888174	0.59368069868963	0.21668	0.732398	0.92422	0	0.547309	0.14657	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	4.12	3.1	0.34780	1.034000	0.29811	1.528000	0.27139	0.618000	0.50648	0.858000	0.30578	0.994000	0.32194	0.181000	0.21328	0.0958:0.0:0.9042:0.0	10.126	0.41823	988	0.01987	CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain;CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain;CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	412.46	46	chr22	44822469	.	G	C	412.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.137;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=-1.838;SOR=0.551	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chr22	46259709	46259709	A	G	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.T3614C:p.L1205S	.	436	1083	3	0	0	3	0.00138313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	.	.	0.00219649	0.0006	0	0.0003	0	0	1.498e-05	0	0.0042	0.0005498	85	154602	rs550972920	0.0003	0.0003	0.0002	0.0004	0.0044	0.0003	0.0003	0.0040	0.0039	0	0.0003	0	2.519e-05	0	0.0010	2.428e-05	0.0003	0.0044	0.0002	0.0002	0.0002	0.0002	0.0056	0.0002	0.0001	0.0039	0.0034	2.406e-05	0	0.0003	0	0.0002	0	0	1.47e-05	0	0.0056	0.006	0.61437	D	0.003	0.76473	D	0.997	0.70673	D	0.923	0.65830	D	0.032143	0.25069	N	0.324362	0.793639	0.34419	D	2.71	0.79292	M	1.25	0.36512	T	-2.2	0.49519	N	0.558	0.58287	-0.7587	0.57476	T	0.170	0.51117	T	10	0.008106589	0.00184	T	.	.	.	0.199	0.48268	0.544	0.65731	0.672866344077	0.67010	0.533329263533615	0.53257	.	.	0.317353665829	0.13020	T	0.302097	0.67451	T	-0.367162	0.03741	T	-0.300461	0.44676	T	0.163015880463444	0.18091	T	0.586341	0.21412	T	0.1797916	0.39068	0.25106245	0.50710	0.1797916	0.39067	0.25106245	0.50709	-4.76	0.34121	T	.	.	0.258	0.49295	B	.	.	3.593008	0.50711	23.0	0.99783313488136538	0.86955	0.54386	0.29603	D	AEFBI	0.169245	0.29607	N	0.22727749887082	0.52525	3.426064	0.142156492960734	0.46729	2.914101	0.999998689098621	0.74766	0.582742	0.33608	0	0.563428	0.19063	0	0.61531	0.40942	0	0.530356	0.10902	0	.	.	5.23	5.23	0.72570	3.013000	0.49270	6.788000	0.56599	0.756000	0.94297	0.390000	0.26087	0.990000	0.31317	0.715000	0.34611	1.0:0.0:0.0:0.0	13.152	0.58912	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1218.44	47	chr22	46259709	.	A	G	1218.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.705;DP=338;ExcessHet=0;FS=6.965;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.643;SOR=0.516	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1305	6	0	1	0
chr22	46262091	46262091	G	A	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.C1232T:p.A411V	.	439	1075	8	0	0	8	0.00370714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	.	.	0.00898562	0.0050	0	0	0.0001	0	1.499e-05	0	0.0362	0.0042949	664	154602	rs548650819	0.0024	0.0024	0.0013	0.0034	0.0379	0.0023	0.0023	0.0369	0.0364	8.961e-05	2.236e-05	0	7.557e-05	0	0.0012	1.978e-05	0.0026	0.0379	0.0011	0.0012	0.0004	0.0019	0.0358	0.0010	0.0010	0.0314	0.0297	0	0	6.533e-05	0	0.0002	0	0	0	0.0005	0.0358	0.018	0.50676	D	0.037	0.51737	D	0.877	0.48223	P	0.56	0.49558	P	0.017974	0.27594	N	0.254049	1	0.08975	N	2.36	0.67893	M	-0.44	0.69777	T	-1.59	0.38345	N	0.186	0.20262	-0.7389	0.58509	T	0.279	0.65099	T	10	0.004831463	0.00103	T	.	.	.	0.190	0.46781	0.741	0.87317	0.636338961461	0.63335	0.624777415327211	0.62410	.	.	0.254787713289	0.04289	T	0.308003	0.68012	T	-0.427489	0.01535	T	-0.360375	0.38009	T	0.114089299615074	0.13842	T	0.772623	0.40374	T	0.09479906	0.22296	0.17239438	0.39491	0.09479906	0.22296	0.17239438	0.39490	-2.677	0.07112	T	.	.	0.177	0.38711	B	.	.	2.484032	0.32036	18.92	0.99887653632632756	0.96281	0.20967	0.21233	N	AEFDBI	0.067714	0.13324	N	-0.201417386125871	0.33075	1.872491	-0.376603856033024	0.25695	1.414709	0.999992476519673	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.78	2.55	0.29757	1.955000	0.39997	2.465000	0.32872	0.676000	0.76740	0.019000	0.19563	0.141000	0.23092	0.012000	0.09680	0.08:0.0:0.7765:0.1435	9.233	0.36609	942	0.12992	PKD/REJ-like domain|REJ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.018939	0.1429	3424.34	98	chr22	46262091	.	G	A	3424.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.167;DP=428;ExcessHet=0.3476;FS=0.921;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=1.03;SOR=0.755	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1305	5	0	2	0
chr22	46691754	46691754	C	T	exonic	CERK	.	nonsynonymous SNV	CERK:NM_022766:exon11:c.G1150A:p.V384I	.	419	1102	1	0	0	1	0.000453515	.	.	.	2317669	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.016	0.00434156350138	0.0011	0.000399361	0.0006	0.0006	0.0005	0.0001	0	0.0008	0	6.164e-05	0.0005369	83	154602	rs143397270	0.0009	0.0009	0.0009	0.0009	0.0011	0.0009	0.0009	0.0011	0.0011	0.0002	0.0005	0	2.523e-05	0.0002	0.0009	0.0011	0.0008	0.0001	0.0006	0.0006	0.0006	0.0007	0.0011	0.0005	0.0005	0.0008	0.0007	0.0004	0	0.0011	0	0	0	0	0.0010	0.0009	0	0.578	0.06030	T	0.732	0.05128	T	0.007	0.14184	B	0.004	0.10090	B	0.010598	0.29863	N	0.363453	1	0.08975	N	-0.075	0.04822	N	2.6	0.13204	T	-0.07	0.08033	N	0.163	0.17140	-0.9311	0.43977	T	0.009	0.03448	T	10	0.019758672	0.00445	T	0.004342	0.10561	T	0.016	0.02506	.	.	0.124217242631	0.12060	0.1774132973604535	0.17660	0.15802830633	0.17849	0.348556160927	0.17710	T	0.069069	0.33616	T	-0.631322	0.00094	T	-0.730068	0.04324	T	0.00323738195099292	0.00034	T	0.772323	0.40326	T	0.010033358	0.00005	0.020745588	0.00153	0.010033358	0.00005	0.020745588	0.00153	-2.86	0.08749	T	.	.	0.063	0.01387	B	.	.	-0.322441	0.02520	0.300	0.88327676107550801	0.17890	0.02051	0.06129	N	AEFBI	0.031068	0.03248	N	-1.20492935320905	0.04926	0.2234484	-1.13420535240909	0.07055	0.3417576	0.00271553808527993	0.09654	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.61	-2.17	0.06663	0.285000	0.18642	-1.924000	0.04488	0.599000	0.40250	0.054000	0.21560	0.000000	0.08366	0.564000	0.30507	0.0:0.3942:0.0:0.6058	9.693	0.39304	693	0.58582	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	1445.44	33	chr22	46691754	.	C	T	1445.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.02;DP=332;ExcessHet=0;FS=2.058;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=-0.142;SOR=0.868	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chr22	49922304	49922304	C	0	exonic	CRELD2	.	.	.	.	445	520	288	49	220	606	0.270687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	5658.53	33	chr22	49922304	.	C	*	5658.53	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.186;DP=333;ExcessHet=0.1336;FS=1.933;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=25.37;ReadPosRankSum=1.9;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1111:.	5	0	1	1
chr22	50050133	50050133	C	T	exonic	TTLL8	.	nonsynonymous SNV	TTLL8:NM_001350317:exon4:c.G274A:p.E92K	.	407	1094	21	0	0	21	0.00950656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0053166610992	0.0017	0.00219649	0.0021	0.0005	0.0038	0.0002	0.0002	0.0024	0.0025	0.0028	0.0020698	320	154602	rs184510799	0.0023	0.0019	0.0023	0.0024	0.0094	0.0023	0.0022	0.0071	0.0064	0.0010	0.0028	0.0002	5.952e-05	6.158e-05	0.0094	0.0024	0.0027	0.0033	0.0016	0.0016	0.0016	0.0016	0.0035	0.0014	0.0014	0.0022	0.0021	0.0003	0.0011	0.0020	0.0003	0.0002	0	0.0102	0.0025	0.0024	0.0035	0.64	0.05668	T	0.513	0.10714	T	.	.	.	.	.	.	0.115219	0.02676	N	1.949630	1	0.08975	N	.	.	.	3.16	0.07711	T	-1.43	0.35194	N	0.226	0.25377	-0.9920	0.32089	T	0.010	0.03856	T	10	0.0077620745	0.00176	T	0.005317	0.13618	T	0.095	0.27398	.	.	0.0611884634855	0.05136	.	.	.	.	.	.	.	.	.	.	-0.567709	0.00228	T	-0.592242	0.13472	T	0.00724849610761397	0.00083	T	0.526647	0.17353	T	.	.	.	.	.	.	.	.	-3.358	0.14497	T	.	.	0.077	0.06525	B	.;.	.;.	1.006753	0.13856	10.41	0.9511830828078609	0.26213	0.10549	0.16025	N	AEFBI	0.061403	0.11738	N	-0.824989917016853	0.12674	0.6192647	-0.91997745172926	0.11623	0.5932751	6.73219018838475E-4	0.07599	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.85	1.29	0.20717	1.852000	0.38988	-0.686000	0.07862	-0.239000	0.07538	0.006000	0.17386	0.000000	0.08366	0.001000	0.02609	0.0:0.4526:0.3595:0.1879	5.214	0.14656	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	902.49	34	chr22	50050133	.	C	T	902.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.1;DP=258;ExcessHet=0;FS=1.921;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=0.957;SOR=0.954	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	6	0	1	0
chr22	50099551	50099551	G	A	exonic	MOV10L1	.	nonsynonymous SNV	MOV10L1:NM_001164104:exon3:c.G391A:p.A131T,MOV10L1:NM_001164105:exon3:c.G331A:p.A111T,MOV10L1:NM_018995:exon3:c.G391A:p.A131T	.	427	1082	13	0	0	13	0.00597152	.	.	.	2819741	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.035	.	0.0048	0.00319489	0.0063	0.0006	0.0008	0	0.0045	0.0075	0.0055	0.0130	0.0059443	919	154602	rs140532446	0.0063	0.0063	0.0059	0.0066	0.0119	0.0061	0.0061	0.0113	0.0110	0.0011	0.0014	0.0044	2.519e-05	0.0051	0.0049	0.0065	0.0054	0.0119	0.0051	0.0051	0.0052	0.0050	0.0110	0.0048	0.0047	0.0086	0.0078	0.0008	0.0175	0.0040	0.0052	0	0.0047	0	0.0079	0.0047	0.0110	0.131	0.27663	T	0.283	0.27679	T	0.06	0.23119	B	0.012	0.16012	B	0.065208	0.21897	N	0.499227	1	0.29541	N	0.995	0.25082	L	0.99	0.41750	T	-1.65	0.39503	N	0.126	0.14054	-1.0202	0.23649	T	0.064	0.26597	T	10	0.009549081	0.00215	T	.	.	.	0.035	0.08770	.	.	0.385906861911	0.38208	0.23159866864943857	0.23074	0.0885955950307	0.10020	0.324762225151	0.14142	T	0.068284	0.33418	T	-0.58178	0.00188	T	-0.597432	0.13028	T	0.00551561521669583	0.00060	T	0.614539	0.23564	T	0.062453996	0.13045	0.09583693	0.22747	0.062453996	0.13045	0.09583693	0.22746	-4.22	0.27040	T	.	.	0.081	0.13315	B	.;.;.;.	.;.;.;.	1.892568	0.24040	16.25	0.97746239927388634	0.35714	0.64828	0.32534	D	AEFGI	0.137595	0.25862	N	-0.441556498442041	0.24028	1.294502	-0.416078732536775	0.24525	1.343467	0.00578068170499047	0.11039	0.516011	0.20929	0	0.59043	0.45803	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.76	3.64	0.40864	2.114000	0.41535	2.139000	0.30831	0.676000	0.76740	0.941000	0.32681	0.465000	0.25022	0.001000	0.02609	0.1719:0.0:0.8281:0.0	9.074	0.35672	934	0.15400	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.000000	0.005435	0.002924	0.000000	0.017241	0.003049	0.015152	0.07143	1355.44	104	chr22	50099551	.	G	A	1355.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.183;DP=286;ExcessHet=0;FS=0.735;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-1.034;SOR=0.782	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1405	6	0	1	0
chr22	50179140	50179140	G	A	exonic	PANX2	.	nonsynonymous SNV	PANX2:NM_052839:exon3:c.G1897A:p.E633K	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.177497522973	.	0.000599042	0.0005	0	0	0	0	1.611e-05	0	0.0032	0.0003687	57	154602	rs541947611	0.0002	0.0002	9.268e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	0	2.24e-05	0	0.0001	0	0.0002	2.519e-05	0.0001	0.0022	5.91e-05	5.905e-05	2.57e-05	9.402e-05	0.0017	3.076e-05	2.209e-05	0.0008	0.0006	0	0	0	0	0.0002	0	0	0	0	0.0017	0.0	0.91255	D	0.015	0.61642	D	0.999	0.77913	D	0.959	0.70163	D	0.215755	0.03419	N	2.393050	0.999981	0.81001	D	0.805	0.20218	L	1.36	0.34452	T	-0.62	0.18248	N	0.632	0.64563	-0.9547	0.40149	T	0.180	0.52705	T	9	0.019598573	0.00440	T	0.177498	0.85292	D	0.263	0.57612	0.328	0.31196	0.42081714158	0.41701	0.8056698406055091	0.80521	0.576832783302	0.53635	0.760996580124	0.76076	T	0.035009	0.23549	T	-0.253079	0.13724	T	-0.141234	0.60012	T	0.214037181364723	0.21162	T	0.916408	0.70110	D	0.33943006	0.56234	0.33544025	0.59357	0.33943006	0.56234	0.33544025	0.59357	-4.926	0.36026	T	.	.	0.728	0.74131	P	.	.	5.718858	0.93214	33	0.99907384094260543	0.97801	0.99094	0.91137	D	AEFDBI	0.863275	0.78177	D	0.434949767373359	0.63356	4.567636	0.413247298113903	0.62389	4.453505	0.999999985531919	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	3.72	3.72	0.41857	7.724000	0.83759	11.460000	0.92824	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:1.0:0.0	15.997	0.80051	697	0.58201	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	325.49	39	chr22	50179140	.	G	A	325.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.732;DP=214;ExcessHet=0;FS=3.256;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-0.381;SOR=1.071	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1147	6	0	1	0
chr22	50210679	50210679	C	A	exonic	SELENOO	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.804	0.79986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160842	0.70278	D	-0.00673841	0.69897	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	3.659087	0.51976	23.2	0.95266441394167389	0.26542	0.22436	0.21746	N	AEFGBHCI	0.187828	0.31511	N	-0.702361567269495	0.15955	0.8087009	-1.10616391139575	0.07582	0.3693576	0.999994964640349	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.82	-7.43	0.01238	-1.097000	0.03460	-4.214000	0.02277	-1.776000	0.00658	0.001000	0.13787	0.000000	0.08366	0.027000	0.12703	0.0:0.2363:0.0:0.7637	17.878	0.88744	684	0.59539	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	815.49	34	chr22	50210679	.	C	A	815.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.54;DP=267;ExcessHet=0;FS=1.838;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=0.715;SOR=0.479	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,101,1143	6	0	1	0
chr22	50217099	50217099	G	A	exonic	SELENOO	.	unknown	UNKNOWN	.	426	1083	13	0	0	13	0.00596604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	.	0.0010	0.00319489	0.0038	0.0002	0.0024	0	0.0003	0.0011	0.0034	0.0208	0.0031953	494	154602	rs199789705	0.0023	0.0023	0.0018	0.0029	0.0209	0.0023	0.0022	0.0201	0.0198	0.0003	0.0024	0.0005	5.039e-05	7.64e-05	0.0045	0.0012	0.0023	0.0209	0.0015	0.0015	0.0010	0.0020	0.0203	0.0014	0.0013	0.0170	0.0158	9.626e-05	0.0263	0.0016	0	0	0	0.0034	0.0011	0.0014	0.0203	0.291	0.14945	T	0.351	0.17425	T	0.462	0.36386	P	0.153	0.34292	B	0.018225	0.27531	N	0.394088	0.998546	0.45064	D	2.125	0.59049	M	0.84	0.47477	T	-1.71	0.40660	N	0.545	0.57177	-1.0709	0.09216	T	0.099	0.36856	T	10	0.009378403	0.00212	T	.	.	.	0.133	0.36157	.	.	0.518697010188	0.51514	.	.	0.120188886323	0.13538	0.569876730442	0.48660	T	0.024215	0.18341	T	-0.402997	0.02213	T	-0.335397	0.40865	T	0.0174574593105553	0.00482	T	0.990701	0.97129	D	0.06846839	0.14919	0.10141093	0.24276	0.06846839	0.14919	0.10141093	0.24276	.	.	.	.	.	0.150	0.33179	B	.;.	.;.	2.366881	0.30367	18.41	0.99534063890246804	0.70087	0.91253	0.53161	D	AEFBCI	0.754708	0.69450	D	-0.143293376161727	0.35522	2.041333	-0.0995806134462495	0.35407	2.048166	0.999332909088477	0.39185	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.18	3.01	0.33872	4.593000	0.60743	2.069000	0.30434	0.614000	0.49286	1.000000	0.71638	0.989000	0.31174	0.358000	0.25841	0.0:0.132:0.7307:0.1373	11.953	0.52253	684	0.59539	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.002717	0.008772	0.000000	0.008621	0.015244	0.022727	0.07143	113.44	36	chr22	50217099	.	G	A	113.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.17;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=-1.063;SOR=0.495	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	6	0	1	0
chr22	50217807	50217807	G	A	exonic	TUBGCP6	.	nonsynonymous SNV	TUBGCP6:NM_020461:exon25:c.C5389T:p.R1797C	Microcephaly and chorioretinopathy, autosomal recessive, 1, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	360615	not_provided|Microcephaly_and_chorioretinopathy_1	MedGen:C3661900|MONDO:MONDO:0009624,MedGen:C3278481,OMIM:251270	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.271	0.180165854654	0.0002	0.000399361	0.0002	9.903e-05	0.0002	0.0001	0	0.0002	0	0.0002	0.0001423	22	154602	rs138609686	0.0001	0.0001	0.0001	0.0001	0.0019	9.604e-05	9.084e-05	0.0011	0.0008	8.961e-05	6.711e-05	0	0.0003	0	0.0019	0.0001	0.0001	0.0001	5.252e-05	5.249e-05	3.854e-05	6.714e-05	0.0002	2.555e-05	1.829e-05	1.972e-05	1.124e-05	4.813e-05	0	0	0	0	0	0	5.88e-05	0.0005	0.0002	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.047666	0.999586	0.81001	D	1.5	0.37844	L	2.82	0.25182	T	-5.34	0.90294	D	0.582	0.60325	-0.9741	0.36323	T	0.120	0.41929	T	10	0.21995252	0.38679	T	0.180166	0.85472	D	0.271	0.58633	.	.	0.548822617668	0.54539	0.741108490605662	0.74056	0.618735702882	0.56256	0.89614212513	0.96000	D	0.298183	0.67076	T	-0.177714	0.24075	T	-0.233371	0.51444	T	0.334991619261504	0.26424	T	0.958804	0.84482	D	0.55798984	0.70398	0.4916127	0.70591	0.55798984	0.70399	0.4916127	0.70591	-5.774	0.44347	T	.	.	0.767	0.75793	P	.;.	.;.	5.234035	0.87859	29.4	0.99886862812237698	0.96204	0.94106	0.60130	D	AEFDBCI	0.639940	0.61781	D	0.396783182743833	0.61248	4.323305	0.326732194398771	0.57117	3.876312	0.996065908718159	0.34501	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.02	2.74	0.31352	3.721000	0.54668	6.209000	0.54989	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.4474:0.5526	11.797	0.51380	684	0.59539	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	839.63	34	chr22	50217807	.	G	A	839.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.626;DP=249;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=0.34;SOR=0.803	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	6	0	1	0
chr22	50288760	50288760	C	T	exonic	PLXNB2	.	nonsynonymous SNV	PLXNB2:NM_001376869:exon4:c.G1363A:p.A455T,PLXNB2:NM_001376875:exon4:c.G1363A:p.A455T,PLXNB2:NM_001376878:exon4:c.G1363A:p.A455T,PLXNB2:NM_001376884:exon4:c.G1363A:p.A455T,PLXNB2:NM_001376864:exon5:c.G1363A:p.A455T,PLXNB2:NM_001376865:exon5:c.G1363A:p.A455T,PLXNB2:NM_001376866:exon5:c.G1363A:p.A455T,PLXNB2:NM_001376870:exon5:c.G1363A:p.A455T,PLXNB2:NM_001376871:exon5:c.G1363A:p.A455T,PLXNB2:NM_001376880:exon5:c.G1363A:p.A455T,PLXNB2:NM_001376882:exon5:c.G1363A:p.A455T,PLXNB2:NM_001376883:exon5:c.G1363A:p.A455T,PLXNB2:NM_001376885:exon5:c.G1363A:p.A455T,PLXNB2:NM_012401:exon5:c.G1363A:p.A455T,PLXNB2:NM_001376867:exon6:c.G1363A:p.A455T,PLXNB2:NM_001376868:exon6:c.G1363A:p.A455T,PLXNB2:NM_001376873:exon6:c.G1363A:p.A455T,PLXNB2:NM_001376874:exon6:c.G1363A:p.A455T,PLXNB2:NM_001376876:exon6:c.G1363A:p.A455T,PLXNB2:NM_001376877:exon6:c.G1363A:p.A455T,PLXNB2:NM_001376881:exon6:c.G1363A:p.A455T,PLXNB2:NM_001376886:exon6:c.G1363A:p.A455T,PLXNB2:NM_001376872:exon7:c.G1363A:p.A455T,PLXNB2:NM_001376879:exon7:c.G1363A:p.A455T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0113248412549	.	.	0.0002	0	0.0017	0	0	7.657e-05	0	0	0.0001552	24	154602	rs772909474	9.105e-05	9.098e-05	9.672e-05	8.532e-05	0.0008	7.829e-05	7.311e-05	0.0006	0.0005	0	0.0008	0	0	0	0.0002	8.004e-05	8.282e-05	1.159e-05	5.913e-05	5.91e-05	8.992e-05	2.69e-05	0.0003	3.077e-05	2.21e-05	8.877e-05	5.386e-05	0	0	0.0003	0	0	0	0	5.88e-05	0	0.0002	0.028	0.46129	D	0.015	0.61642	D	0.318	0.32936	B	0.075	0.28327	B	0.092889	0.20251	N	0.413978	0.619459	0.30792	N	1.67	0.42885	L	3.54	0.04799	T	-0.57	0.17210	N	0.434	0.47301	-1.0909	0.05383	T	0.017	0.06807	T	10	0.045281947	0.03580	T	0.011325	0.28825	T	0.090	0.26093	.	.	0.321115633427	0.31720	0.7808267704943909	0.78033	0.314150516404	0.33697	0.419968396425	0.27832	T	0.125838	0.45182	T	-0.399071	0.02348	T	-0.43875	0.28949	T	0.0661035394525771	0.08093	T	0.660434	0.28269	T	0.04816572	0.08350	0.07723845	0.17185	0.04816572	0.08349	0.07723845	0.17185	-6.206	0.47972	T	.	.	0.112	0.33296	B	.;.;.	.;.;.	3.441471	0.47879	22.5	0.99772139275178973	0.86003	0.81282	0.40718	D	AEFBI	0.110701	0.21943	N	-0.0855686567833177	0.38026	2.220857	0.0168184184884092	0.40496	2.417676	0.999260921278648	0.38940	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.72	3.62	0.40616	1.554000	0.35873	1.636000	0.27766	-0.178000	0.10482	0.984000	0.35821	0.899000	0.27943	0.407000	0.26939	0.1801:0.8199:0.0:0.0	11.401	0.49114	633	0.64743	Sema domain;Sema domain;Sema domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1300.53	39	chr22	50288760	.	C	T	1300.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.213;DP=282;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=0.521;SOR=0.76	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1415	6	0	1	0
chr22	50456593	50456593	C	T	exonic	SBF1	.	nonsynonymous SNV	SBF1:NM_001365819:exon29:c.G3910A:p.A1304T,SBF1:NM_002972:exon30:c.G3985A:p.A1329T	Charcot-Marie-Tooth disease, type 4B3, Autosomal recessive	423	1096	3	0	0	3	0.00136674	.	.	.	1152941	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.199	0.051057542975	8.2e-05	.	0.0002	0.0004	0	0	0	0.0004	0	0	6.5e-06	1	154602	rs372950672	0.0001	0.0001	0.0001	0.0001	0.0024	8.894e-05	8.343e-05	0.0014	0.0011	0.0006	2.958e-05	0	0	0	0.0024	9.277e-05	0.0002	0	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	8.722e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	0.0001	0.0005	0	0.598	0.05703	T	0.754	0.06621	T	.	.	.	.	.	.	0.291139	0.03895	N	1.524220	1	0.08975	N	.	.	.	-2.08	0.86146	D	-0.06	0.12099	N	0.048	0.01999	-0.7383	0.58540	T	0.270	0.64182	T	10	0.021478742	0.00515	T	0.051058	0.64501	D	0.199	0.48268	.	.	0.379214838424	0.37538	0.26583968483280024	0.26496	.	.	0.459273993969	0.33210	T	.	.	.	-0.40789	0.02053	T	-0.549382	0.17385	T	0.00184665833842765	0.00019	T	0.039696	0.00319	T	0.013443791	0.00059	0.031373706	0.01718	0.013443791	0.00059	0.031373706	0.01717	-3.823	0.21149	T	0.03314729367692009	0.00137	0.063	0.01762	B	.;.	.;.	0.427745	0.07980	4.696	0.66080541308297591	0.07955	0.07039	0.13065	N	AEFBCI	0.044220	0.07088	N	-2.00165252193559	0.00210	0.008993958	-1.95623760954631	0.00377	0.01668176	0.218223640347331	0.18324	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.38	-2.83	0.05425	-0.085000	0.11215	-1.958000	0.04434	-1.194000	0.01370	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.0:0.2911:0.4797:0.2292	7.717	0.27878	819	0.41190	.;Myotubularin-like phosphatase domain|Myotubularin-like phosphatase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001535	0.000000	0.002725	0.000000	0.000000	0.008621	0.000000	0.003846	0.07143	294.44	34	chr22	50456593	.	C	T	294.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.821;DP=236;ExcessHet=0;FS=2.602;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.01;ReadPosRankSum=0.352;SOR=1.164	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1090	6	0	1	0
chr22	50482580	50482580	C	T	exonic	ADM2	.	nonsynonymous SNV	ADM2:NM_001369882:exon2:c.C124T:p.R42W,ADM2:NM_001253845:exon3:c.C124T:p.R42W	.	.	.	.	.	.	.	.	.	.	.	3242289	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.0151051304523	.	0.000199681	0.0001	0	0.0024	0	0	0	0	0	1.94e-05	3	154602	rs537506034	1.449e-05	1.779e-05	1.186e-05	1.726e-05	0.0001	9.26e-06	7.47e-06	3.67e-05	1.889e-05	3.488e-05	0.0001	0	8.481e-05	0	0	1.156e-05	0	0	2.626e-05	2.624e-05	1.285e-05	4.027e-05	4.411e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.405e-05	0	0	0	0	0	0	4.411e-05	0	0	0.067	0.35918	T	0.055	0.46862	T	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.46	0.12951	N	.	.	.	-1.6	0.38540	N	0.065	0.20395	-1.0162	0.24948	T	0.039	0.16763	T	8	0.007292539	0.00166	T	0.015105	0.35650	T	0.016	0.02506	.	.	0.0297737177859	0.01360	0.2620307681816283	0.26116	0.0573012449885	0.06345	0.557021856308	0.46847	T	0.003098	0.02504	T	-0.298207	0.08829	T	-0.66613	0.07858	T	0.0453153217413652	0.04659	T	0.646135	0.25753	T	0.05417521	0.10359	0.054455932	0.09369	0.05417521	0.10359	0.054455932	0.09368	-4.482	0.30652	T	.	.	0.088	0.12084	B	.;.	.;.	0.806880	0.11777	8.350	0.9388742042648015	0.23908	0.04888	0.10633	N	AEFDBHCIJ	0.122088	0.23706	N	-1.20901325712908	0.04867	0.2206152	-1.25433133581774	0.05067	0.2405754	0.99999359462027	0.74766	0.65757	0.49021	0	0.588066	0.40923	0	0.619478	0.44681	0	0.562822	0.20929	0	.	.	4.62	-4.32	0.03433	-2.607000	0.00961	-1.754000	0.04787	0.519000	0.23678	0.000000	0.06391	0.000000	0.08366	0.288000	0.24212	0.144:0.3536:0.0:0.5024	5.269	0.14930	784	0.47045	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1183.53	30	chr22	50482580	.	C	T	1183.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.01;DP=236;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.15;ReadPosRankSum=0.851;SOR=0.737	GT:AD:DP:GQ:PL	0/1:24,45:69:99:1194,0,487	6	0	1	0
chr22	50489748	50489748	C	G	exonic	MIOX	.	nonsynonymous SNV	MIOX:NM_017584:exon10:c.C750G:p.N250K	.	.	.	.	.	.	.	.	0.0004	0.056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.0792648203135	.	0.000399361	0.0004	0.0001	0.0002	0	0	1.554e-05	0.0011	0.0029	0.0003493	54	154602	rs2232886	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0002	0.0028	0.0027	0	0	0	0	0	0	0	0.0002	0.0031	0.0001	0.0001	2.572e-05	0.0002	0.0033	7.092e-05	5.748e-05	0.0021	0.0017	0	0	6.542e-05	0	0	0	0	0	0	0.0033	0.001	0.78490	D	0.002	0.79402	D	0.925	0.51395	P	0.768	0.56752	P	0.000000	0.84330	D	0.047967	0.999996	0.58761	D	3.375	0.91388	M	.	.	.	-5.27	0.84175	D	0.861	0.85766	-0.8164	0.54158	T	0.286	0.65763	T	8	0.12096852	0.22923	T	0.079265	0.73194	D	0.622	0.85354	0.904	0.97943	0.143124449307	0.13826	0.8022113692393594	0.80175	0.184474526274	0.20751	0.633125782013	0.57588	T	0.523735	0.83392	D	-0.288456	0.09792	T	-0.191739	0.55427	T	0.301156518767718	0.25052	T	0.983802	0.94506	D	0.8222748	0.85373	0.6728926	0.80801	0.8222748	0.85375	0.6728926	0.80801	-13.056	0.89593	D	.	.	0.974	0.90120	P	.;.	.;.	3.301985	0.45331	22.1	0.95762450364042062	0.27754	0.95776	0.66105	D	AEFBI	0.587822	0.58533	D	0.334977666700224	0.57951	3.964808	0.247810992486201	0.52526	3.42678	0.222045805055596	0.18366	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.22	2.75	0.31439	1.478000	0.35050	0.704000	0.20870	-0.186000	0.09761	1.000000	0.71638	0.999000	0.35428	0.753000	0.35893	0.0:0.7056:0.0:0.2944	7.492	0.26638	794	0.45591	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	600.83	36	chr22	50489748	.	C	G	600.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.323;DP=236;ExcessHet=0;FS=1.047;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-1.157;SOR=0.507	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1144	6	0	1	0
chr22	50505766	50505766	T	G	exonic	LMF2	.	nonsynonymous SNV	LMF2:NM_001363816:exon6:c.A749C:p.N250T,LMF2:NM_033200:exon6:c.A824C:p.N275T	.	.	.	.	.	.	.	.	.	.	.	2711919	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.243	0.0219933194048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.791e-06	4.788e-06	5.448e-06	4.128e-06	4.637e-05	1.99e-06	1.28e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	8.993e-07	3.313e-05	4.637e-05	6.574e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.089528	0.999997	0.58761	D	4.12	0.97420	H	1.48	0.31731	T	-5.51	0.85921	D	0.828	0.83781	0.359	0.88476	D	0.580	0.84885	D	10	0.94170415	0.93495	D	0.021993	0.44830	T	0.510	0.78971	0.848	0.95084	0.0551355673512	0.04727	0.9652175480546444	0.96508	.	.	0.541390776634	0.44642	T	0.333749	0.70357	T	0.0811278	0.62173	D	-0.121242	0.61701	T	0.998892486095428	0.95503	D	0.923708	0.83469	D	0.86839706	0.88735	0.69519615	0.82055	0.86839706	0.88736	0.69519615	0.82056	-11.773	0.83727	D	.	.	0.718	0.75115	P	.;.	.;.	4.243650	0.64354	24.7	0.99473300807510345	0.66472	0.97502	0.75165	D	AEFBI	0.813587	0.73602	D	0.446053552895218	0.63978	4.642562	0.407781746136385	0.62047	4.41399	0.999999997623923	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.79	4.79	0.60909	3.681000	0.54382	7.770000	0.68454	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.555000	0.30293	0.0:0.0:0.0:1.0	11.035	0.47014	721	0.55360	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	521.53	36	chr22	50505766	.	T	G	521.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.429;DP=270;ExcessHet=0;FS=7.06;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.69;ReadPosRankSum=-0.053;SOR=1.168	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	6	0	1	0
chr22	50546362	50546362	C	T	exonic	KLHDC7B	.	nonsynonymous SNV	KLHDC7B:NM_138433:exon1:c.C119T:p.A40V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs187625614	4.045e-06	2.067e-05	0	7.97e-06	6.311e-06	0	0	.	.	0	0	0	0	0	0	6.311e-06	0	0	3.285e-05	3.283e-05	5.138e-05	1.345e-05	9.647e-05	1.261e-05	7.98e-06	3.248e-05	1.914e-05	9.647e-05	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15561035	0.29325	T	.	.	.	.	.	.	.	.	.	0.1110501452114271	0.11034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.310869	0.06046	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.49797	B	.	.	3.571776	0.50313	22.9	0.9360700992547023	0.23467	0.18639	0.20342	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999999999885938	0.74766	0.095506	0.02484	0	0.09434	0.02614	0	0.074216	0.02223	0	0.109499	0.03221	0	0.981966	0.87989	5.13	5.13	0.69729	0.345000	0.19720	2.526000	0.33144	0.599000	0.40250	0.037000	0.20830	0.990000	0.31317	0.853000	0.40368	0.0:1.0:0.0:0.0	13.938	0.63547	584	0.69381	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	32.33	.	chr22	50546362	.	C	T	32.33	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.967;DP=16;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,49	4	0	1	2
chr22	50549318	50549318	C	G	exonic	KLHDC7B	.	nonsynonymous SNV	KLHDC7B:NM_138433:exon1:c.C3075G:p.I1025M	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.101356780808	0.0009	.	0.0006	0.0001	8.726e-05	0	0.0008	0.0009	0.0012	6.112e-05	0.0005304	82	154602	rs139536561	0.0008	0.0008	0.0008	0.0009	0.0011	0.0008	0.0008	0.0010	0.0010	2.987e-05	0.0002	0	0	0.0002	0.0003	0.0011	0.0004	8.115e-05	0.0007	0.0007	0.0007	0.0006	0.0012	0.0006	0.0005	0.0010	0.0009	9.618e-05	0	0.0007	0	0	0.0007	0	0.0012	0.0005	0.0002	0.009	0.57480	D	0.029	0.54541	D	0.997	0.70673	D	0.979	0.74454	D	0.031376	0.25177	U	0.193170	0.826434	0.28816	N	1.28	0.32218	L	-1.3	0.79571	T	-1.44	0.35399	N	0.203	0.22486	-0.2761	0.75646	T	0.516	0.81869	D	10	0.12789893	0.24327	T	0.101357	0.77419	D	0.283	0.60100	.	.	0.886456965538	0.88533	0.32153719833206335	0.32066	.	.	0.36568158865	0.20210	T	0.238647	0.60660	T	-0.356696	0.04320	T	-0.341494	0.40176	T	0.0285206643287913	0.01765	T	0.630737	0.24588	T	0.15716481	0.35427	0.14706434	0.34818	0.15716481	0.35427	0.14706434	0.34817	-8.169	0.62216	D	.	.	0.193	0.43269	B	.;.	.;.	2.833745	0.37365	20.5	0.99660355653802379	0.77883	0.67121	0.33318	D	AEFDGBCI	0.230559	0.35392	N	0.286173565917075	0.55446	3.708792	0.251647478004026	0.52742	3.447135	0.999998756173246	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.578056	0.29568	0	0.63947	0.58350	0	.	.	5.35	3.23	0.36150	0.966000	0.28929	0.940000	0.22845	0.549000	0.26987	0.893000	0.31264	1.000000	0.68203	0.998000	0.85391	0.0:0.754:0.1573:0.0887	8.369	0.31566	584	0.69381	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1645.44	153	chr22	50549318	.	C	G	1645.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.394;DP=356;ExcessHet=0;FS=1.265;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=1.5;SOR=0.574	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1221	6	0	1	0
chr22	50720382	50720382	C	T	exonic	SHANK3	.	nonsynonymous SNV	SHANK3:NM_001372044:exon23:c.C2732T:p.T911M	Phelan-McDermid syndrome, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.267077317691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.845e-07	4.515e-05	0	2.033e-06	1.147e-06	0	0	.	.	0	0	0	0	0	0	1.147e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.53426	D	.	.	.	.	.	.	.	.	.	.	0.992485	0.23875	N	.	.	.	.	.	.	.	.	.	0.487	0.52119	-0.3939	0.72219	T	0.470	0.79578	T	9	0.4111868	0.56236	T	0.267077	0.89734	D	0.278	0.59497	.	.	.	.	0.28552743048223433	0.28465	.	.	0.965175390244	0.99954	D	0.187789	0.54149	T	.	.	.	.	.	.	.	.	.	0.922508	0.71813	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.49586	B	.;.	.;.	5.017672	0.83372	28.0	0.99858681789563808	0.93729	0.97595	0.75784	D	AEFDBI	0.540837	0.55724	D	0.570899631420867	0.71363	5.639556	0.534362450193799	0.70317	5.487465	0.999999639783012	0.74766	0.460665	0.09802	0	0.547309	0.14657	0	0.503968	0.08637	0	0.636168	0.56350	0	.	.	4.56	4.56	0.55644	4.535000	0.60341	5.397000	0.48500	0.440000	0.21072	0.999000	0.42656	1.000000	0.68203	0.907000	0.44265	0.0:1.0:0.0:0.0	14.904	0.70349	608	0.67185	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	345.49	1	chr22	50720382	.	C	T	345.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.235;DP=51;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.32;ReadPosRankSum=1.32;SOR=0.368	GT:AD:DP:GQ:PL	0/0:7,0:7:21:0,21,218	6	0	1	0
chr22	50738284	50738284	G	A	exonic	ACR	.	nonsynonymous SNV	ACR:NM_001097:exon1:c.G49A:p.V17M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.191611966607	.	.	0.0001	0	0.0003	0	0	1.504e-05	0	0.0007	0.0001035	16	154602	rs779879875	6.089e-05	6.088e-05	4.356e-05	7.838e-05	0.0006	5.028e-05	4.672e-05	0.0005	0.0004	0	0.0002	0	2.519e-05	0	0	2.158e-05	4.968e-05	0.0006	6.573e-06	1.313e-05	1.285e-05	0	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.016	0.51853	D	0.015	0.61642	D	0.997	0.70673	D	0.828	0.59497	P	0.005255	0.32962	N	0.000000	0.999336	0.21346	N	0.975	0.24501	L	-2.52	0.93170	D	-0.4	0.14193	N	0.406	0.44666	0.201	0.85927	D	0.784	0.92656	D	10	0.32431144	0.49756	T	0.191612	0.86194	D	0.318	0.64008	0.488	0.57257	0.940011758961	0.93938	0.35330179692995717	0.35244	.	.	0.485118746758	0.36763	T	0.326759	0.69734	T	-0.200136	0.20785	T	-0.164464	0.57948	T	0.134987264871597	0.15835	T	.	.	.	0.08902386	0.20788	0.17738152	0.40337	0.08902386	0.20787	0.17738152	0.40336	-7.455	0.57293	T	.	.	0.139	0.41858	B	.;.	.;.	3.638303	0.51572	23.1	0.99789776173288403	0.87572	0.70159	0.34476	D	AEFBI	0.094102	0.19031	N	0.215438271292266	0.51949	3.372202	0.118800317735188	0.45510	2.812959	0.457305588341716	0.20593	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.664235	0.64389	0	.	.	3.95	3.95	0.44952	1.716000	0.37601	8.634000	0.77865	0.676000	0.76740	0.017000	0.19353	1.000000	0.68203	0.015000	0.10482	0.0:0.0:1.0:0.0	11.792	0.51347	689	0.59000	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	408.49	35	chr22	50738284	.	G	A	408.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.06;DP=208;ExcessHet=0;FS=3.269;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=1.04;SOR=0.264	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1075	6	0	1	0
chrX	3084292	3084292	C	A	exonic	ARSF	.	nonsynonymous SNV	ARSF:NM_001201538:exon6:c.C456A:p.H152Q,ARSF:NM_001201539:exon6:c.C456A:p.H152Q,ARSF:NM_004042:exon6:c.C456A:p.H152Q	.	430	1091	0	1	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.654	0.190101046255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.02	0.58613	D	0.981	0.59675	D	0.978	0.74104	D	0.000269	0.46590	U	0.184724	0.99686	0.43468	D	1.915	0.51223	L	-3.3	0.93787	D	-7.09	0.93950	D	0.592	0.61256	0.703	0.93206	D	0.863	0.95434	D	10	0.8241632	0.81603	D	0.190101	0.86103	D	0.654	0.86986	0.629	0.76478	0.696565107391	0.69394	0.646965746727596	0.64631	0.498106368391	0.48292	0.339914947748	0.16425	T	0.730653	0.92459	D	0.112534	0.65613	D	-0.0761296	0.65186	T	0.974249303340912	0.70427	D	0.825317	0.48765	T	0.5222603	0.68389	0.39661878	0.64299	0.5222603	0.68390	0.39661878	0.64299	-8.749	0.66067	D	.	.	0.696	0.73612	P	.;.	.;.	2.323248	0.29754	18.22	0.98617845428056283	0.43731	0.46915	0.27866	N	AEFGBI	.	.	.	.	.	.	.	.	.	2.04855907990172E-4	0.05948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.44	1.09	0.19517	-0.088000	0.11163	-0.991000	0.06679	0.547000	0.25779	0.933000	0.32380	0.081000	0.22384	0.873000	0.41610	0.0:0.6631:0.0:0.3369	8.895	0.34617	1000	0.00083	Sulfatase, N-terminal;Sulfatase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	61.44	34	chrX	3084292	.	C	A	61.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.15;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.36;ReadPosRankSum=-1.15;SOR=0.446	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1328	6	0	1	0
chrX	3323097	3323097	A	G	exonic	MXRA5	.	nonsynonymous SNV	MXRA5:NM_015419:exon5:c.T2588C:p.M863T	.	431	1088	2	1	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0145978368337	9.5e-05	0.000264901	0.0005	0	0.0001	0	0	0.0001	0	0.0040	0.0005175	80	154602	rs373025245	0.0003	0.0003	0.0002	0.0004	0.0040	0.0002	0.0002	0.0036	0.0034	3.787e-05	0.0003	0	0	0	0.0019	4.987e-05	0.0002	0.0040	0.0001	0.0002	0.0001	0.0002	0.0034	8.965e-05	7.243e-05	0.0018	0.0013	0	0	0.0002	0	0	0	0	7.525e-05	0.0007	0.0034	0.368	0.11623	T	0.405	0.14771	T	0.0	0.02946	B	0.0	0.01387	B	0.115839	0.02681	N	2.067570	1	0.08975	N	0	0.06538	N	0.13	0.60973	T	-0.74	0.20791	N	0.013	0.00142	-1.0527	0.13655	T	0.078	0.31012	T	10	0.005004823	0.00108	T	0.014598	0.34823	T	0.047	0.12962	.	.	0.286465849087	0.28247	0.3793392701731815	0.37848	0.0713716190818	0.07990	0.260423004627	0.04940	T	3.12E-4	0.00083	T	-0.746365	0.00019	T	-0.845716	0.01016	T	0.00624238224621952	0.00069	T	0.374863	0.08927	T	0.053816892	0.10237	0.103302434	0.24781	0.053816892	0.10237	0.103302434	0.24781	-1.647	0.02094	T	.	.	0.088	0.11845	B	.	.	-1.542659	0.00270	0.004	0.17313755133539535	0.00500	0.00190	0.01102	N	AEFBI	.	.	.	.	.	.	.	.	.	0.927523827774459	0.26892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.63	-7.27	0.01312	-0.513000	0.06389	-2.277000	0.03961	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.1284:0.3515:0.4019:0.1183	4.361	0.10637	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2399.44	80	chrX	3323097	.	A	G	2399.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.214;DP=593;ExcessHet=0;FS=1.079;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=1.75;SOR=0.798	GT:AD:DP:GQ:PL	0/1:104,101:205:99:2410,0,2486	6	0	1	0
chrX	6533750	6533750	C	T	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G556A:p.V186M	.	434	1062	26	0	0	26	0.012093	.	.	.	3886662	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	.	.	.	0.0109	0.0078	0.0053	0	0.0141	0.0140	0.0103	0.0102	0.0002135	33	154602	rs74393938	0.0014	0.0055	0.0019	0.0003	0.0017	0.0013	0.0013	0.0014	0.0013	0.0008	0.0008	0.0047	0.0002	0.0033	0.0003	0.0012	0.0022	0.0017	0.0030	0.0069	0.0041	0	0.0035	0.0027	0.0026	0.0028	0.0026	0.0035	0	0.0018	0.0029	0.0003	0.0071	0	0.0028	0.0055	0.0017	0.0	0.91255	D	0.101	0.38596	T	0.982	0.60036	D	0.729	0.55225	P	.	.	.	.	0.999973	0.19072	N	0.695	0.17993	N	1.91	0.23283	T	0.14	0.05405	N	0.075	0.25867	-1.0439	0.16148	T	0.046	0.19800	T	8	0.0052250326	0.00114	T	.	.	.	0.057	0.16321	.	.	.	.	0.010725019350369076	0.01033	0.268142659766	0.29341	0.496027678251	0.38275	T	0.001791	0.01214	T	-0.39512	0.02492	T	-0.805339	0.01772	T	0.0207467507570982	0.00774	T	0.432757	0.11777	T	0.15995844	0.35904	0.15014142	0.35422	0.15995844	0.35904	0.15014142	0.35422	-4.895	0.35678	T	.	.	0.144	0.33573	B	.;.;.	.;.;.	0.449974	0.08202	4.937	0.85326322252058417	0.15823	0.04088	0.09549	N	AEFI	.	.	.	.	.	.	.	.	.	7.46993312473294E-5	0.04552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.463	0.15912	-0.735000	0.04992	0.109000	0.14755	0.173000	0.17773	0.000000	0.06391	0.012000	0.20211	0.002000	0.04165	.	.	.	1000	0.00083	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.075304	0.057692	0.100935	0.063953	0.000000	0.048193	0.057292	0.040462	0.07143	346.44	104	chrX	6533750	.	C	T	346.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.48;DP=968;ExcessHet=0;FS=35.182;MLEAC=1;MLEAF=0.071;MQ=47.63;MQRankSum=-2.788;QD=3.33;ReadPosRankSum=3.03;SOR=5.33	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:217,0:217:99:.:.:0,120,1800:.	6	0	1	0
chrX	6533798	6533798	C	T	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G508A:p.V170M	.	440	949	96	2	35	135	0.0500501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0069	0.0111258	0.0082	0.0107	0.0039	0.0002	0.0084	0.0092	0.0102	0.0105	0.0016905	44	26028	rs150302824	0.0013	0.0039	0.0020	1.813e-05	0.0039	0.0013	0.0013	0.0022	0.0017	0.0002	0.0004	0.0017	0.0001	0.0060	0.0039	0.0012	0.0016	0.0012	0.0038	0.0066	0.0051	4.212e-05	0.0069	0.0035	0.0033	0.0048	0.0046	0.0021	0.0018	0.0007	0.0067	0.0003	0.0033	0.0123	0.0054	0.0024	0.0069	0.18	0.21968	T	0.053	0.47336	T	0.147	0.27870	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	0.14	0.08730	N	1.95	0.22474	T	-1.11	0.32991	N	0.061	0.03283	-1.0093	0.27136	T	0.014	0.05657	T	9	0.0061380565	0.00138	T	.	.	.	0.016	0.02506	.	.	0.043077524339	0.03247	0.0029042973972772407	0.00270	0.268142659766	0.29341	0.492105185986	0.37731	T	0.008069	0.07427	T	-0.801426	0.00008	T	-0.959347	0.00234	T	0.0014211687957868	0.00014	T	0.418458	0.11053	T	0.07575911	0.17089	0.0887198	0.20703	0.07575911	0.17089	0.0887198	0.20702	-7.283	0.56074	T	.	.	0.128	0.27161	B	.;.	.;.	0.636114	0.10045	6.796	0.36933765174065997	0.02404	0.00020	0.00220	N	AEFI	.	.	.	.	.	.	.	.	.	1.41924753792295E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595	-1.19	0.09091	-2.402000	0.01125	-3.692000	0.02601	-1.745000	0.00696	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4005:0.3328:0.2667	2.317	0.03945	1000	0.00083	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.029605	0.010870	0.016822	0.040698	0.000000	0.048193	0.050279	0.035294	0.1	484.95	55	chrX	6533798	.	C	T	484.95	.	AC=1;AF=0.1;AN=10;BaseQRankSum=4.28;DP=898;ExcessHet=0;FS=20.033;MLEAC=1;MLEAF=0.1;MQ=35.48;MQRankSum=-1.333;QD=11.55;ReadPosRankSum=2.03;SOR=0.353	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:217,0:217:99:.:.:0,120,1800:.	4	0	1	2
chrX	6533801	6533801	G	C	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.C505G:p.Q169E	.	437	999	51	0	35	86	0.0248902	.	.	.	1196393	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.026	.	0.0098	0.0116556	0.0019	0.0108	0.0004	0.0031	0.0016	0.0009	0.0017	0.0009	0.0018057	47	26028	rs137964452	0.0004	0.0012	0.0005	0.0002	0.0007	0.0003	0.0003	0.0003	0.0003	0.0003	3.166e-05	0	0.0004	0.0016	0.0007	0.0004	0.0003	0.0003	0.0011	0.0030	0.0014	0	0.0026	0.0009	0.0008	0.0021	0.0019	0.0026	0	0.0004	0.0009	0.0007	0	0	0.0006	0	0	1.0	0.09989	T	1.0	0.03886	T	0.416	0.35222	B	0.055	0.25995	B	.	.	.	.	1	0.08975	N	0.11	0.08516	N	2.35	0.16217	T	-0.26	0.14193	N	0.072	0.08506	-0.9646	0.38290	T	0.011	0.03949	T	9	0.0056487024	0.00125	T	.	.	.	0.026	0.05648	.	.	0.043077524339	0.03247	8.920462994297167E-4	0.00082	0.28885402027	0.31292	0.502566754818	0.39186	T	0.001323	0.00800	T	-0.921897	0.00000	T	-1.14257	0.00010	T	0.0691892443533896	0.08538	T	0.482252	0.15733	T	0.08899886	0.20780	0.08663842	0.20087	0.08899886	0.20779	0.08663842	0.20086	-3.392	0.14949	T	.	.	0.035	0.00008	B	.;.	.;.	-0.785054	0.01137	0.053	0.10694135607750728	0.00141	0.00075	0.00520	N	AEFI	.	.	.	.	.	.	.	.	.	1.79158850418598E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595	-1.19	0.09091	-1.991000	0.01567	-4.683000	0.02035	0.163000	0.17726	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.4706:0.0:0.2622:0.2672	1.932	0.03126	1000	0.00083	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.014622	0.043478	0.016822	0.011628	0.000000	0.000000	0.016760	0.000000	0.1	484.95	56	chrX	6533801	.	G	C	484.95	.	AC=1;AF=0.1;AN=10;BaseQRankSum=1.65;DP=881;ExcessHet=0;FS=16.236;MLEAC=1;MLEAF=0.1;MQ=35.56;MQRankSum=-1.465;QD=11.28;ReadPosRankSum=1.67;SOR=0.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:217,0:217:99:.:.:0,120,1800:.	4	0	1	2
chrX	6533921	6533921	G	C	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.C385G:p.Q129E	.	543	966	2	0	11	13	0.00103413	.	.	.	215626	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.021	0.00100473547963	.	.	0.0006	0.0006	0	0.0002	0.0005	0.0008	0	0.0004	0.0003074	8	26028	rs139657007	0.0002	0.0006	0.0003	1.211e-05	0.0015	0.0002	0.0002	0.0005	0.0003	0.0002	0.0002	0.0004	3.458e-05	0.0011	0.0015	0.0002	0.0004	0.0001	0.0011	0.0016	0.0014	0	0.0018	0.0009	0.0008	0.0014	0.0012	0.0018	0	0.0007	0.0005	0	0.0009	0	0.0010	0	0.0006	0.681	0.04417	T	0.914	0.02926	T	0.02	0.18235	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	2.35	0.16217	T	-0.48	0.15379	N	0.073	0.04668	-0.9390	0.42774	T	0.019	0.08173	T	8	0.017632455	0.00378	T	0.001005	0.01073	T	0.021	0.04004	.	.	0.043077524339	0.03247	0.0013055078381560828	0.00120	0.28885402027	0.31292	0.460381567478	0.33362	T	9.57E-4	0.00501	T	-0.910172	0.00000	T	-1.09919	0.00028	T	0.00686715525122581	0.00078	T	0.454955	0.12997	T	0.1174931	0.27699	0.07922997	0.17819	0.1174931	0.27699	0.07922997	0.17818	-2.396	0.05108	T	.	.	0.036	0.00006	B	.	.	-1.616596	0.00232	0.004	0.22995920600298814	0.00951	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	7.2036496174935E-5	0.04552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.428000	0.00527	-3.340000	0.02863	-3.294000	0.00099	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4896:0.2637:0.2466	3.380	0.06828	1000	0.00083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.014630	0.025974	0.005780	0.006135	0.000000	0.024691	0.030864	0.025316	0.07143	89.83	38	chrX	6533921	.	G	C	89.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.332;DP=216;ExcessHet=0;FS=5.527;MLEAC=1;MLEAF=0.071;MQ=34.24;MQRankSum=0.563;QD=3.74;ReadPosRankSum=-3.344;SOR=2.303	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	6	0	1	0
chrX	7843768	7843768	-	CTGTGT	exonic	VCX	.	nonframeshift insertion	VCX:NM_013452:exon3:c.373_374insCTGTGT:p.S125delinsTVC	.	576	718	155	12	61	240	0.110836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.0032	0.0006	0.0011	0.0035	0.0014	0	0	0.000461	12	26028	rs768077574	0.0003	0.0005	0.0003	5.138e-05	0.0004	0.0002	0.0002	0.0002	0.0002	0.0001	0.0004	0.0009	0.0004	0.0008	0	0.0002	0.0004	0.0001	0.0010	0.0057	0.0013	0	0.0023	0.0008	0.0008	0.0007	0.0006	0.0011	0.0028	0.0007	0.0015	0.0020	0.0004	0	0.0010	0	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	245.21	34	chrX	7843768	.	A	ACTGTGT	245.21	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.411;DP=347;ExcessHet=0.3476;FS=15.387;MLEAC=1;MLEAF=0.071;MQ=50.72;MQRankSum=0.006;QD=3.72;ReadPosRankSum=-0.816;SOR=1.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:141,0:141:99:.:.:0,120,1800:.	6	0	1	0
chrX	8466027	8466027	C	G	exonic	VCX3B	.	nonsynonymous SNV	VCX3B:NM_001001888:exon3:c.C385G:p.Q129E	.	766	722	22	8	4	42	0.025641	.	.	.	2349531	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.008	0.000998444815749	.	.	0.0008	0	0.0021	0	0	0.0010	0	0	3.84e-05	1	26028	rs5978241	0.0016	0.0020	0.0023	0.0003	0.0025	0.0015	0.0014	0.0017	0.0017	0.0006	0.0016	0.0007	0.0008	0.0016	0.0025	0.0019	0.0022	0.0005	0.0026	0.0033	0.0029	0	0.0033	0.0022	0.0020	0.0027	0.0024	0.0017	0.0165	0.0027	0	0.0020	0	0	0.0033	0.0042	0.0021	0.487	0.10623	T	1.0	0.01155	T	0.013	0.16609	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	2.35	0.18570	T	-0.58	0.17417	N	0.035	0.01135	-0.9479	0.41330	T	0.027	0.11529	T	9	0.0039381087	0.00075	T	9.98E-4	0.01073	T	0.008	0.00669	.	.	0.0297737177859	0.01360	0.0016663777962670748	0.00154	0.990275075807	0.74039	0.453882277012	0.32475	T	2.49E-4	0.00052	T	-0.95742	0.00000	T	-1.15297	0.00008	T	0.0051742822749193	0.00056	T	0.472453	0.14032	T	0.052864067	0.09920	0.06279685	0.12340	0.052864067	0.09919	0.06279685	0.12339	-3.433	0.15504	T	.	.	0.036	0.00007	B	.;.;.	.;.;.	-1.593200	0.00243	0.004	0.10818492738913132	0.00146	0.00067	0.00479	N	AEFI	.	.	.	.	.	.	.	.	.	0.0621396808089444	0.15254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.883	-1.77	0.07551	-7.145000	0.00054	-4.258000	0.02253	-4.194000	0.00038	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2515:0.58:0.1685	6.078	0.19150	1000	0.00083	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025316	0.071429	0.014663	0.008850	0.000000	0.016667	0.037383	0.043860	0.1	201.21	11	chrX	8466027	.	C	G	201.21	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.735;DP=170;ExcessHet=0;FS=2.753;MLEAC=1;MLEAF=0.1;MQ=43.3;MQRankSum=1.33;QD=3.05;ReadPosRankSum=-4.163;SOR=0.36	GT:AD:DP:GQ:PL	0/1:51,15:66:99:210,0,1355	4	0	1	2
chrX	8466064	8466064	A	-	exonic	VCX3B	.	frameshift deletion	VCX3B:NM_001001888:exon3:c.422delA:p.E142Nfs*3	.	733	779	3	0	7	10	0.00192184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006916	18	26028	rs1359413202	0.0014	0.0017	0.0018	0.0004	0.0065	0.0013	0.0012	0.0054	0.0050	0.0020	0.0065	0.0005	0.0046	0.0019	0.0007	0.0006	0.0013	0.0025	2.596e-05	0.0004	2.945e-05	0	0.0004	0	0	.	.	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	32.55	3	chrX	8466063	.	GA	G	32.55	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=191;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=37.26;MQRankSum=0.431;QD=10.85;ReadPosRankSum=0;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:68,0:68:99:.:.:0,120,1800:.	6	0	1	0
chrX	8466067	8466215	AACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	-	exonic	VCX3B	.	frameshift deletion	VCX3B:NM_001001888:exon3:c.425_573del:p.E142Gfs*98	.	731	782	3	0	6	9	0.00191449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0011	0.0007	0.0001	0.0031	0.0005	0.0005	0.0025	0.0023	0.0002	0.0008	0.0002	0.0031	0.0010	0	0.0002	0.0007	0.0010	8.12e-05	0.0002	9.3e-05	0	0.0004	2.152e-05	1.096e-05	7.594e-05	3.142e-05	0.0004	0	0.0004	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	44.5	7	chrX	8466066	.	GAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	G	44.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.431;DP=272;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=40.7;MQRankSum=0.18;QD=6.36;ReadPosRankSum=0;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:68,0:68:99:.:.:0,120,1800:.	6	0	1	0
chrX	8466096	8466155	GAACCACTGAGTCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	-	exonic	VCX3B	.	nonframeshift deletion	VCX3B:NM_001001888:exon3:c.454_513del:p.E159_S178del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0031	0.0011	4.858e-05	0.0127	0.0008	0.0007	0.0114	0.0108	0.0012	0.0016	0.0007	0.0127	0.0013	0.0016	0.0004	0.0013	0.0012	5.357e-05	0.0011	6.405e-05	0	0.0003	8.88e-06	3.32e-06	.	.	0.0003	0	0	0	0	0	0	0	0.0021	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	81.72	7	chrX	8466095	.	GGAACCACTGAGTCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	G	81.72	.	AC=2;AF=0.143;AN=14;DP=274;ExcessHet=0;FS=3.09;MLEAC=1;MLEAF=0.071;MQ=34.08;MQRankSum=0.319;QD=20.43;SOR=0.078	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:68,0:68:99:.:.:0,120,1800:.	6	1	0	0
chrX	8466095	8466155	GGAACCACTGAGTCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	0	exonic	VCX3B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	81.72	7	chrX	8466095	.	GGAACCACTGAGTCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	*	81.72	.	AC=1;AF=0.071;AN=14;DP=274;ExcessHet=0;FS=3.09;MLEAC=1;MLEAF=0.071;MQ=34.08;MQRankSum=0.319;QD=20.43;SOR=0.078	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:68,0:68:99:.:.:0,120,1800:.	6	0	1	0
chrX	8466126	8466215	GAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	-	exonic	VCX3B	.	nonframeshift deletion	VCX3B:NM_001001888:exon3:c.484_573del:p.E169_S198del	.	573	905	12	5	27	49	0.0120087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.0099	0.0021	0.0061	0.0003	0.0005	0	0.0013	3.84e-05	1	26028	.	0.0037	0.0043	0.0046	0.0012	0.0412	0.0036	0.0036	0.0387	0.0377	0.0127	0.0412	0.0042	0.0227	0.0085	0.0074	0.0016	0.0073	0.0067	0.0085	0.0086	0.0103	0.0001	0.0528	0.0077	0.0074	0.0384	0.0335	0.0377	0	0.0279	0.0007	0.0528	0.0031	0	0.0034	0.0021	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2198.08	4	chrX	8466125	.	GGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	G	2198.08	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.6;DP=334;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=40.09;MQRankSum=0.911;QD=26.17;ReadPosRankSum=0.677;SOR=0.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:68,0:68:99:.:.:0,120,1800:.	6	1	0	0
chrX	8466125	8466215	GGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	0	exonic	VCX3B	.	.	.	.	573	905	12	5	27	49	0.0120087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	2198.08	4	chrX	8466125	.	GGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	*	2198.08	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.6;DP=334;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.214;MQ=40.09;MQRankSum=0.911;QD=26.17;ReadPosRankSum=0.677;SOR=0.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:68,0:68:99:.:.:0,120,1800:.	5	2	0	0
chrX	8466215	8466215	A	0	exonic	VCX3B	.	.	.	.	689	655	115	37	26	215	0.126084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3405.84	4	chrX	8466215	.	A	*	3405.84	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.63;DP=511;ExcessHet=0.1336;FS=18.519;MLEAC=4;MLEAF=0.333;MQ=43.11;MQRankSum=-0.368;QD=9.06;ReadPosRankSum=0.255;SOR=1.351	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:147,0:211:99:.:.:1322,1761,5786:.	4	2	0	1
chrX	8795269	8795286	CTGCTGCTGCTGCGGCTT	-	exonic	FAM9A	.	nonframeshift deletion	FAM9A:NM_001171186:exon7:c.623_640del:p.E208_A213del,FAM9A:NM_174951:exon7:c.623_640del:p.E208_A213del	.	450	1068	2	0	2	4	0.000935454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013245	0.0041	0.0060	0.0088	0.0193	0	0.0015	0	0.0049	0.0018305	283	154602	rs774169916	0.0012	0.0012	0.0013	0.0011	0.0070	0.0012	0.0011	0.0062	0.0059	0.0038	0.0029	5.385e-05	0.0070	8.394e-05	0.0033	0.0007	0.0018	0.0035	0.0024	0.0025	0.0026	0.0018	0.0116	0.0021	0.0020	0.0088	0.0078	0.0039	0	0.0041	0	0.0116	0.0004	0.0046	0.0009	0.0027	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1175.38	35	chrX	8795268	.	GCTGCTGCTGCTGCGGCTT	G	1175.38	.	AC=2;AF=0.143;AN=14;DP=185;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=29.26;SOR=1.863	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1204	6	1	0	0
chrX	9896510	9896510	C	T	exonic	SHROOM2	.	nonsynonymous SNV	SHROOM2:NM_001649:exon4:c.C2602T:p.R868W	.	434	1087	0	1	0	2	0.000919118	.	.	.	3914300	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.058	0.233088401425	9.5e-05	.	1.349e-05	0	0	0	0	2.472e-05	0	0	1.29e-05	2	154602	rs374462030	2.828e-05	2.823e-05	3.132e-05	2.212e-05	0.0017	2.027e-05	1.766e-05	0.0008	0.0006	3.79e-05	0	5.171e-05	3.314e-05	0	0.0017	2.14e-05	6.522e-05	0	2.649e-05	2.61e-05	2.568e-05	2.827e-05	0.0003	7.04e-06	2.95e-06	.	.	0	0	0	0	0.0003	0	0.0042	1.872e-05	0	0	0.001	0.78490	D	0.004	0.74150	D	0.985	0.61118	D	0.232	0.38314	B	0.051849	0.22945	N	0.468148	1	0.08975	N	0.55	0.14455	N	2.31	0.16794	T	-3.9	0.72932	D	0.12	0.11054	-1.0139	0.25688	T	0.024	0.10148	T	10	0.15007964	0.28393	T	0.233088	0.88350	D	0.058	0.16647	.	.	0.301455362545	0.29754	0.18675493367277649	0.18593	0.0886919329349	0.10031	0.241592794657	0.02935	T	0.149308	0.48825	T	-0.513136	0.00482	T	-0.784478	0.02321	T	0.330490240363309	0.26244	T	0.908009	0.67517	D	0.106937625	0.25287	0.11844237	0.28591	0.106937625	0.25287	0.11844237	0.28590	-7.444	0.57215	T	.	.	0.137	0.29860	B	.	.	1.498619	0.19271	14.18	0.99347287718905986	0.60452	0.28654	0.23613	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999862890474209	0.44398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.02	2.15	0.26590	0.915000	0.28260	0.721000	0.21012	0.596000	0.33519	0.155000	0.23727	0.000000	0.08366	0.001000	0.02609	0.1467:0.6428:0.1326:0.0779	5.708	0.17191	937	0.14592	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.000688	0.000000	0.000000	0.003953	0.000000	0.000000	0.000000	0.000000	0.1429	1048.23	35	chrX	9896510	.	C	T	1048.23	.	AC=2;AF=0.143;AN=14;DP=221;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=29.95;SOR=1.148	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	1	0	0
chrX	10469688	10469688	G	A	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294T:p.L432F,MID1:NM_001193280:exon6:c.C1180T:p.L394F,MID1:NM_001193278:exon7:c.C1447T:p.L483F	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.822e-06	1.821e-06	1.361e-06	2.752e-06	1.847e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.188e-06	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.06	0.03175	.	.	.	.	.	.	.	0.049869597	0.04636	T	.	.	.	.	.	.	.	0.228066490088	0.22430	.	.	.	.	.	.	.	0.006829	0.06256	T	-0.218282	0.18229	T	-0.551324	0.17198	T	.	.	.	0.334067	0.07092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31708	B	.	.	1.071713	0.14539	11.11	0.85981199067195402	0.16236	0.02091	0.06209	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1454.59	107	chrX	10469688	.	G	A	1454.59	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-3.944;DP=533;ExcessHet=2.5225;FS=171.116;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=3.13;ReadPosRankSum=0.953;SOR=9.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,50:160:99:0|1:10469688_G_A:853,0,3071:10469688	3	0	4	0
chrX	10469690	10469690	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1292G:p.Y431C,MID1:NM_001193280:exon6:c.A1178G:p.Y393C,MID1:NM_001193278:exon7:c.A1445G:p.Y482C	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	0.0842	0.246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0089	0.0017	0	0.0014	0.0011	0.0011	0.0013	0.0013	0.0011	5.717e-05	0.0005	0.0003	0	0	0.0014	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.611	0.62781	.	.	.	.	.	.	.	0.5160695	0.62373	D	.	.	.	.	.	.	.	0.702451314445	0.69986	.	.	.	.	.	.	.	0.029078	0.20915	T	-0.0458167	0.45080	T	-0.303589	0.44343	T	.	.	.	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.48469	B	.	.	1.822216	0.23154	15.91	0.93045119261725329	0.22651	0.71697	0.35125	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99999824567079	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.483522	0.39157	5.6	5.6	0.84997	3.630000	0.54014	4.911000	0.45953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0763:0.0:0.9237	10.887	0.46181	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	1325.05	107	chrX	10469690	.	T	C	1325.05	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-3.2;DP=534;ExcessHet=1.1394;FS=164.992;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=3.29;ReadPosRankSum=0.784;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,50:160:99:0|1:10469688_G_A:853,0,3071:10469688	4	0	3	0
chrX	10469693	10469693	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1289G:p.E430G,MID1:NM_001193280:exon6:c.A1175G:p.E392G,MID1:NM_001193278:exon7:c.A1442G:p.E481G	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	1.0000	0.956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0	0.0002	0.0001	0.0001	0.0002	0.0002	0.0001	0	0.0002	0	0	0	0.0002	0.0002	3.742e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.32144	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.203	0.22486	.	.	.	.	.	.	.	0.24297184	0.41502	T	.	.	.	.	.	.	.	0.747603607226	0.74533	.	.	.	.	.	.	.	0.021315	0.16623	T	0.0253054	0.55096	T	-0.201427	0.54511	T	.	.	.	0.294771	0.05441	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.40457	B	.	.	5.344784	0.89672	31	0.96935891014238906	0.31676	0.98570	0.84213	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999998814	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.899241	0.56623	5.6	5.6	0.84997	7.515000	0.80659	7.688000	0.65646	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.867	0.70064	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	659.6	107	chrX	10469693	.	T	C	659.6	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-4.447;DP=534;ExcessHet=2.5225;FS=147.291;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=0.711;SOR=9.19	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,39:159:43:0|1:10469688_G_A:43,0,3972:10469688	3	0	4	0
chrX	11763869	11763869	C	T	exonic	MSL3	.	nonsynonymous SNV	MSL3:NM_001282174:exon7:c.C392T:p.A131V,MSL3:NM_006800:exon7:c.C341T:p.A114V,MSL3:NM_001193270:exon8:c.C803T:p.A268V,MSL3:NM_078628:exon8:c.C839T:p.A280V,MSL3:NM_078629:exon8:c.C839T:p.A280V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00872732225922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.19430	T	0.328	0.18789	T	0.003	0.11197	B	0.009	0.14300	B	0.001256	0.39669	N	0.249192	0.899739	0.36143	D	1.905	0.50856	L	2.9	0.10101	T	-1.66	0.42957	N	0.136	0.15888	-1.0732	0.08724	T	0.024	0.10239	T	10	0.3093226	0.48421	T	0.008727	0.23050	T	0.060	0.17295	0.576	0.70087	0.379559396232	0.37572	0.43041735901690015	0.42958	0.633052333057	0.57212	0.344832241535	0.17158	T	0.034937	0.23521	T	-0.323792	0.06592	T	-0.702881	0.05670	T	0.735322415828705	0.42488	D	0.873013	0.59013	D	0.099557064	0.23496	0.13010423	0.31269	0.099557064	0.23496	0.13010423	0.31268	-5.63	0.47777	T	0.6474824191595265	0.71911	0.088	0.12181	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.454206	0.31607	18.79	0.96965764751673256	0.31799	0.83929	0.43019	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999999821373193	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.85	3.92	0.44525	5.372000	0.65909	3.365000	0.37889	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8675:0.0:0.1325	8.523	0.32445	738	0.53389	.;MRG domain|MRG domain;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	220.64	26	chrX	11763869	.	C	T	220.64	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.445;DP=163;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.49;ReadPosRankSum=-0.468;SOR=0.766	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1048	6	0	1	0
chrX	13319621	13319621	T	C	exonic	ATXN3L	.	nonsynonymous SNV	ATXN3L:NM_001135995:exon1:c.A314G:p.D105G	.	365	1152	2	3	0	8	0.00346021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	.	0.00503311	0.0039	0	0.0002	0	0	2.122e-05	0	0.0328	0.0038551	596	154602	rs547199495	0.0016	0.0016	0.0010	0.0028	0.0309	0.0016	0.0015	0.0297	0.0292	3.789e-05	0	0	0	0	0.0019	1.901e-05	0.0018	0.0309	0.0006	0.0007	0.0003	0.0013	0.0253	0.0005	0.0005	0.0205	0.0188	6.456e-05	0	0	0	0	0	0	0	0.0007	0.0253	0.01	0.56456	D	0.07	0.43721	T	0.378	0.34287	B	0.449	0.46066	P	0.000000	0.84330	D	0.089513	0.99969	0.20694	N	3.135	0.88152	M	0.81	0.48460	T	-3.67	0.70191	D	0.065	0.03726	-0.8053	0.54831	T	0.188	0.53812	T	10	0.008230358	0.00187	T	.	.	.	0.099	0.28413	0.549	0.66436	0.548822617668	0.54539	0.8212071617201157	0.82077	0.146649929832	0.16552	0.232571691275	0.02164	T	0.131193	0.46053	T	-0.552479	0.00282	T	-0.543377	0.17966	T	0.110655824908194	0.13491	T	0.933207	0.74971	D	0.60974264	0.73214	0.35589406	0.61109	0.60974264	0.73215	0.35589406	0.61109	-11.06	0.79986	D	.	.	0.622	0.69799	P	.	.	2.181331	0.27801	17.59	0.98733965086881936	0.45393	0.14084	0.18214	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999583508853916	0.40607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.943	-0.291	0.12207	2.561000	0.45567	2.329000	0.32183	0.502000	0.22824	0.916000	0.31843	0.976000	0.30059	0.338000	0.25386	0.0:0.2593:0.0:0.7407	4.032	0.09197	937	0.14592	Josephin domain|Josephin domain|Josephin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	1911.02	39	chrX	13319621	.	T	C	1911.02	.	AC=2;AF=0.143;AN=14;DP=214;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.92;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1169:.	6	1	0	0
chrX	13319624	13319641	ATGCCGAGCTTCTGATAT	-	exonic	ATXN3L	.	nonframeshift deletion	ATXN3L:NM_001135995:exon1:c.294_311del:p.E98_I104delinsD	.	364	1153	2	3	0	8	0.00345722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0041	0	0.0002	0	0	2.12e-05	0	0.0348	0.0001153	3	26028	rs771053259	0.0016	0.0016	0.0010	0.0028	0.0308	0.0016	0.0015	0.0295	0.0290	3.789e-05	0	0	0	0	0.0019	1.901e-05	0.0018	0.0308	0.0006	0.0007	0.0003	0.0013	0.0246	0.0005	0.0005	0.0199	0.0182	6.453e-05	0	0	0	0	0	0	0	0.0007	0.0246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1911.98	39	chrX	13319623	.	AATGCCGAGCTTCTGATAT	A	1911.98	.	AC=2;AF=0.143;AN=14;DP=216;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=32.48;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1169:.	6	1	0	0
chrX	14912325	14912325	C	G	exonic	MOSPD2	.	nonsynonymous SNV	MOSPD2:NM_001177475:exon9:c.C767G:p.P256R,MOSPD2:NM_001330241:exon10:c.C956G:p.P319R,MOSPD2:NM_152581:exon10:c.C956G:p.P319R	.	453	1066	3	0	0	3	0.00140515	.	.	.	2681165	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.136	0.489540887365	0.0002	0.000264901	0.0001	0	0	0	0	0.0003	0	0	0.0001746	27	154602	rs145104885	0.0001	0.0001	0.0001	0.0001	0.0013	0.0001	0.0001	0.0005	0.0003	0	0	5.439e-05	0	0	0.0013	0.0001	0.0002	0.0001	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	9.274e-05	0.0001	0.0001	6.531e-05	0	0.0002	0	0	0	0	0.0002	0.0013	0	0.011	0.55530	D	0.025	0.56192	D	0.956	0.54666	P	0.709	0.54472	P	0.000042	0.53742	D	0.162713	0.991086	0.41304	D	2.085	0.57729	M	-0.04	0.63240	T	-1.56	0.37759	N	0.113	0.10056	-0.5269	0.67658	T	0.296	0.66726	T	10	0.12258494	0.23257	T	0.489541	0.94976	D	0.136	0.36778	.	.	0.47098275866	0.46727	0.4674475192073569	0.46663	0.875595741049	0.69555	0.497725009918	0.38510	T	0.049276	0.40348	T	-0.326507	0.06379	T	-0.413294	0.31845	T	0.181901119675531	0.19355	T	0.90471	0.66491	D	0.6607643	0.75940	0.46714616	0.69086	0.6607643	0.75941	0.46714616	0.69086	-6.695	0.51773	T	.	.	0.403	0.63262	A	.;.;.	.;.;.	4.019422	0.59351	24.1	0.99798081340850342	0.88283	0.98016	0.78896	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999973793293776	0.50053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6	4.75	0.59954	6.105000	0.71165	5.824000	0.50107	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9209:0.0:0.0791	13.299	0.59746	98	0.95963	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.001376	0.000000	0.001855	0.000000	0.000000	0.011765	0.000000	0.000000	0.07143	810.49	26	chrX	14912325	.	C	G	810.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.365;DP=216;ExcessHet=0;FS=6.011;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=0.59;SOR=0.858	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	6	0	1	0
chrX	15639743	15639743	G	A	exonic	CLTRN	.	nonsynonymous SNV	CLTRN:NM_020665:exon5:c.C331T:p.R111W	.	433	1086	2	1	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811	0.285291225988	.	.	0.0002	0	0	0	0	0	0	0.0016	0.0001682	26	154602	rs745828157	8.383e-05	8.469e-05	5.599e-05	0.0001	0.0016	6.949e-05	6.436e-05	0.0013	0.0012	7.752e-05	0	0	0	0	0.0002	3.584e-06	4.386e-05	0.0016	2.684e-05	2.613e-05	0	8.82e-05	0.0011	7.13e-06	2.98e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0011	0.0	0.91255	D	0.0	0.92824	D	0.925	0.51395	P	0.504	0.47761	P	0.000000	0.84330	D	0.000000	0.999854	0.49910	D	.	.	.	-2.58	0.89757	D	-7.2	0.94223	D	0.275	0.31140	0.634	0.92339	D	0.725	0.90593	D	10	0.78072584	0.77831	D	0.285291	0.90375	D	0.811	0.93892	0.862	0.95885	0.924954946498	0.92418	0.866917397727278	0.86656	0.0224495177129	0.02262	0.55689483881	0.46830	T	0.618455	0.88006	D	0.221187	0.75888	D	0.520316	0.95003	D	0.452037700448536	0.30872	T	0.882912	0.65471	D	0.9230264	0.93543	0.8988206	0.94892	0.9230264	0.93543	0.8988206	0.94893	-6.514	0.50394	T	.	.	0.412	0.60248	A	.;.	.;.	3.778606	0.54311	23.5	0.99865260518559174	0.94366	0.93734	0.59038	D	AEFI	.	.	.	.	.	.	.	.	.	0.100871804095471	0.16364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.65	4.67	0.58089	0.984000	0.29163	4.254000	0.42773	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8071:0.1929	13.829	0.62862	135	0.94622	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.002065	0.000000	0.001855	0.000000	0.000000	0.000000	0.004425	0.005263	0.1429	902.27	34	chrX	15639743	.	G	A	902.27	.	AC=2;AF=0.143;AN=14;DP=213;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=32.22;SOR=1.179	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1100	6	1	0	0
chrX	20116843	20116843	G	A	exonic	MAP7D2	.	nonsynonymous SNV	MAP7D2:NM_001168465:exon1:c.C37T:p.R13W,MAP7D2:NM_001168466:exon1:c.C37T:p.R13W,MAP7D2:NM_152780:exon1:c.C37T:p.R13W	.	433	1088	1	0	0	1	0.000459348	.	.	.	1196345	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.254	0.916564294563	.	0.000264901	5.456e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs200047348	0.0001	0.0001	0.0001	0.0002	0.0026	0.0001	0.0001	0.0014	0.0011	0	0	0	0	0	0.0026	0.0002	0.0002	6.233e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	6.442e-05	0	9.217e-05	0	0	0	0.0140	0.0003	0.0006	0	0.003	0.91255	D	0.014	0.63109	D	0.988	0.65571	D	0.265	0.46205	B	0.737976	0.09800	N	0.819880	1	0.08975	N	0	0.06538	N	-2.05	0.85799	D	-1.92	0.45222	N	0.231	0.30574	-0.6849	0.61146	T	0.331	0.69868	T	10	0.14458066	0.27436	T	0.916564	0.99382	D	0.254	0.56428	.	.	0.622495819891	0.61943	0.3022768229661635	0.30140	0.125427775553	0.14139	0.734395503998	0.72149	T	0.337306	0.70671	T	-0.0809148	0.39565	T	-0.354005	0.38745	T	0.104237642624311	0.12817	T	0.877512	0.59164	D	0.06877185	0.15009	0.08509355	0.19622	0.06877185	0.15009	0.08509355	0.19621	-5.327	0.40209	T	.	.	0.180	0.52185	B	.;.;.	.;.;.	2.031685	0.25824	16.90	0.9922411906051668	0.55994	0.05361	0.11221	N	AEFDBHCIJ	.	.	.	.	.	.	.	.	.	0.999981373434452	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.71	1.84	0.24348	-0.041000	0.12036	0.991000	0.23192	0.612000	0.49041	0.000000	0.06391	0.011000	0.20116	0.139000	0.19909	0.0:0.4098:0.5902:0.0	6.387	0.20767	80	0.96670	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.004944	0.000000	0.007491	0.000000	0.000000	0.000000	0.013889	0.000000	0.07143	797.44	37	chrX	20116843	.	G	A	797.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.624;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.522;SOR=0.811	GT:AD:DP:GQ:PL	0/1:26,34:60:99:808,0,604	6	0	1	0
chrX	24364312	24364336	CCTGCTCCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	385	1083	16	7	31	61	0.0136612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	801.71	22	chrX	24364312	.	CCTGCTCCTGCTCTAGCTGCTGCTG	*	801.71	.	AC=3;AF=0.3;AN=10;BaseQRankSum=0.247;DP=385;ExcessHet=0.2119;FS=10.417;MLEAC=4;MLEAF=0.4;MQ=59.89;MQRankSum=0;QD=11.62;ReadPosRankSum=1.97;SOR=1.72	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1482	3	1	1	2
chrX	25013147	25013147	G	C	exonic	ARX	.	nonsynonymous SNV	ARX:NM_139058:exon2:c.C848G:p.A283G	Epileptic encephalopathy, early infantile, 1, X-linked recessive;Hydranencephaly with abnormal genitalia, X-linked;Lissencephaly, X-linked 2, X-linked;Mental retardation, X-linked 29 and others, X-linked recessive;Partington syndrome, X-linked recessive;Proud syndrome, X-linked	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.960679944981	.	.	.	.	.	.	.	.	.	.	.	.	.	rs975587581	9.218e-07	9.105e-07	0	2.824e-06	0.0003	0	0	.	.	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.26965	T	0.252	0.23570	T	0.213	0.30041	B	0.033	0.22329	B	0.056870	0.22525	N	0.427515	0.998042	0.22380	N	-0.205	0.04094	N	-2.38	0.88298	D	-1.02	0.26843	N	0.074	0.04790	-0.7392	0.58493	T	0.307	0.67777	T	10	0.29613206	0.47179	T	0.96068	0.99743	D	0.157	0.40909	0.269	0.21735	0.685585876551	0.68289	0.06728479240151776	0.06666	2.05958384172	0.94402	0.914789319038	0.97902	D	0.159861	0.50347	T	-0.244665	0.14759	T	-0.589221	0.13734	T	0.230738654732704	0.21987	T	0.420158	0.11156	T	0.110796876	0.26186	0.09818192	0.23397	0.110796876	0.26185	0.09818192	0.23397	-3.845	0.21478	T	0.13671241348966848	0.14977	0.091	0.13174	B	.	.	1.583202	0.20260	14.66	0.95771519880150136	0.27778	0.39815	0.26297	N	AEFDBHCIJ	.	.	.	.	.	.	.	.	.	0.999999743494467	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.51	2.64	0.30504	1.368000	0.33820	6.066000	0.53214	-1.135000	0.01450	0.817000	0.29947	1.000000	0.68203	0.383000	0.26402	0.1104:0.1699:0.7197:0.0	6.959	0.23768	276	0.89131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2099.53	34	chrX	25013147	.	G	C	2099.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.566;DP=355;ExcessHet=0;FS=6.228;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=1.23;SOR=1.108	GT:AD:DP:GQ:PL	0/1:98,87:185:99:2110,0,2779	6	0	1	0
chrX	27747324	27747325	GG	-	exonic	DCAF8L2	.	frameshift deletion	DCAF8L2:NM_001353450:exon5:c.429_430del:p.E144Gfs*17,DCAF8L2:NM_001353449:exon6:c.429_430del:p.E144Gfs*17,DCAF8L2:NM_001353448:exon7:c.429_430del:p.E144Gfs*17	.	429	1087	5	0	1	6	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	.	.	.	rs1491499307	0.0001	0.0002	0.0002	4.77e-05	0.0005	0.0001	9.498e-05	0.0003	0.0003	0	0.0004	0	0.0002	0	0	9.121e-05	0.0002	0.0005	0.0004	0.0006	0.0005	0.0002	0.0023	0.0003	0.0003	0.0016	0.0014	7.017e-05	0	0.0023	0	0	0	0	0.0003	0.0007	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	431.27	39	chrX	27747323	.	AGG	A	431.27	.	AC=2;AF=0.143;AN=14;DP=257;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=32.69;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:68,0:68:99:.:.:0,120,1800:.	6	1	0	0
chrX	27747327	27747327	G	-	exonic	DCAF8L2	.	frameshift deletion	DCAF8L2:NM_001353450:exon5:c.432delG:p.E145Kfs*21,DCAF8L2:NM_001353449:exon6:c.432delG:p.E145Kfs*21,DCAF8L2:NM_001353448:exon7:c.432delG:p.E145Kfs*21	.	430	1086	5	0	1	6	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	.	.	.	rs766478913	0.0001	0.0002	0.0002	4.747e-05	0.0005	0.0001	9.385e-05	0.0003	0.0003	0	0.0004	0	0.0002	0	0	8.978e-05	0.0002	0.0005	0.0004	0.0006	0.0005	0.0002	0.0024	0.0003	0.0003	0.0016	0.0014	7.034e-05	0	0.0024	0	0	0	0	0.0003	0.0007	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	431.27	39	chrX	27747326	.	AG	A	431.27	.	AC=2;AF=0.143;AN=14;DP=267;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=32.89;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:68,0:68:99:.:.:0,120,1800:.	6	1	0	0
chrX	32565806	32565806	T	C	exonic	DMD	.	nonsynonymous SNV	DMD:NM_000109:exon16:c.A1864G:p.T622A,DMD:NM_004006:exon16:c.A1888G:p.T630A,DMD:NM_004009:exon16:c.A1876G:p.T626A,DMD:NM_004010:exon16:c.A1519G:p.T507A	Becker muscular dystrophy, X-linked recessive;Cardiomyopathy, dilated, 3B, X-linked;Duchenne muscular dystrophy, X-linked recessive	0	1518	1	3	0	7	0.00230036	.	.	YES	198591	Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype|Duchenne_muscular_dystrophy|Cardiomyopathy|Dystrophin_deficiency|Becker_muscular_dystrophy|not_provided	MONDO:MONDO:0010542,MedGen:C3668940,OMIM:302045,Orphanet:154|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010679,MedGen:C0013264,OMIM:310200,Orphanet:98896|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|.|MONDO:MONDO:0010311,MedGen:C0917713,OMIM:300376,Orphanet:98895|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.039	.	9.5e-05	0.000529801	0.0015	0	0.0001	0	0.0155	0.0012	0.0063	0.0003	0.0013454	208	154602	rs72468692	0.0009	0.0009	0.0009	0.0010	0.0012	0.0009	0.0009	0.0005	0.0005	3.791e-05	0	0	0	0.0116	0.0012	0.0005	0.0010	0.0005	0.0012	0.0013	0.0009	0.0017	0.0006	0.0010	0.0010	0.0005	0.0004	3.241e-05	0	0	0	0	0.0156	0	0.0006	0.0013	0	1.0	0.07497	T	0.522	0.10429	T	0.0	0.02946	B	0.0	0.01387	B	0.616160	0.10821	N	0.727763	1	0.08975	N	.	.	.	0.18	0.71779	T	-0.49	0.15578	N	0.032	0.01203	-0.9880	0.33102	T	0.063	0.26029	T	10	0.0073586106	0.00167	T	.	.	.	0.039	0.10176	.	.	0.298199939746	0.29431	0.05511594894284313	0.05452	0.0157027306126	0.01500	0.319444060326	0.13337	T	0.237201	0.61507	T	-0.689657	0.00042	T	-0.788048	0.02219	T	0.00453589918880317	0.00048	T	0.561944	0.19809	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.01645	B	.;.;.;.;.	.;.;.;.;.	1.226184	0.16205	12.39	0.78548438539071197	0.12348	0.49643	0.28480	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.0234486860196543	0.13508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.28	-1.42	0.08446	0.501000	0.22286	0.612000	0.20040	-0.163000	0.11536	0.997000	0.40164	0.989000	0.31174	0.994000	0.71098	0.1713:0.589:0.0:0.2397	6.644	0.22118	854	0.34840	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.1429	2014.22	35	chrX	32565806	.	T	C	2014.22	.	AC=2;AF=0.143;AN=14;DP=240;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.99;SOR=0.787	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	6	1	0	0
chrX	35967712	35967712	C	T	exonic	CFAP47	.	nonsynonymous SNV	CFAP47:NM_001304548:exon10:c.C1694T:p.S565L,CFAP47:NM_152632:exon10:c.C1694T:p.S565L	.	439	1067	9	7	0	23	0.010663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.303722080294	0.0013	0.000264901	0.0021	0.0002	0.0003	0	0.0007	0.0018	0	0.0085	0.0018046	279	154602	rs139917087	0.0016	0.0016	0.0014	0.0020	0.0081	0.0015	0.0015	0.0075	0.0072	3.796e-05	0.0005	0.0178	0	0.0009	0.0070	0.0010	0.0021	0.0081	0.0011	0.0012	0.0011	0.0012	0.0057	0.0010	0.0009	0.0035	0.0028	9.831e-05	0	0.0008	0.0163	0	0.0009	0	0.0008	0.0046	0.0057	0.003	0.68238	D	0.007	0.74150	D	0.999	0.77913	D	0.964	0.71005	D	0.003573	0.34767	N	0.244508	0.971333	0.25658	N	.	.	.	2.09	0.20122	T	-4.51	0.78222	D	0.545	0.57177	-0.9646	0.38290	T	0.133	0.44603	T	10	0.006130278	0.00138	T	0.303722	0.90966	D	0.205	0.49236	.	.	0.229543500084	0.22568	0.28002470413414443	0.27915	0.496707143037	0.48176	.	.	.	0.112852	0.42944	T	-0.501414	0.00561	T	-0.488878	0.23508	T	0.0567158743217567	0.06641	T	0.794521	0.43681	T	0.20438586	0.42547	0.30867738	0.56886	0.20438586	0.42547	0.30867738	0.56885	-4.05	0.24802	T	.	.	0.143	0.33958	B	.;.	.;.	2.615283	0.33978	19.50	0.99870885436492607	0.94815	0.88401	0.48312	D	AEFI	.	.	.	.	.	.	.	.	.	0.753485858743551	0.23397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.35	5.35	0.76297	5.397000	0.66048	5.881000	0.50644	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0:1.0:0.0:0.0	15.397	0.74519	563	0.71062	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.001376	0.000000	0.000000	0.003953	0.000000	0.000000	0.004425	0.000000	0.1429	33.22	34	chrX	35967712	.	C	T	33.22	.	AC=2;AF=0.143;AN=14;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1004	6	1	0	0
chrX	38805332	38805332	A	G	exonic	MID1IP1	.	nonsynonymous SNV	MID1IP1:NM_001098791:exon2:c.A386G:p.D129G,MID1IP1:NM_001098790:exon3:c.A386G:p.D129G,MID1IP1:NM_021242:exon3:c.A386G:p.D129G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00343112465482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.824e-06	1.821e-06	2.723e-06	0	6.622e-05	3e-07	1.1e-07	1.096e-05	4.1e-06	0	0	0	6.622e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.11770	T	0.186	0.28860	T	0.0	0.02946	B	0.0	0.01387	B	0.500509	0.05089	N	1.356640	0.93301	0.27006	N	0.92	0.23413	L	.	.	.	-0.87	0.23590	N	0.098	0.07949	-1.0146	0.25464	T	0.064	0.26456	T	9	0.13651976	0.25974	T	0.003431	0.07725	T	0.057	0.16321	0.432	0.48171	0.602722737475	0.59954	0.6161898946331331	0.61550	0.446624210647	0.44532	0.6190995574	0.55602	T	0.030059	0.21398	T	-0.248363	0.14300	T	-0.594532	0.13276	T	0.0739516168832779	0.09195	T	0.60194	0.22516	T	0.130631	0.30476	0.116227366	0.28059	0.130631	0.30475	0.116227366	0.28058	-3.742	0.19940	T	.	.	0.159	0.35056	B	.;.;.;.	.;.;.;.	2.363622	0.30321	18.40	0.93390516935453993	0.23144	0.66129	0.32971	D	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999946950175	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.48	3.33	0.37245	1.619000	0.36575	4.685000	0.44339	0.756000	0.94297	0.987000	0.36337	1.000000	0.68203	0.998000	0.85391	0.7871:0.0:0.2129:0.0	7.111	0.24568	912	0.21483	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chrX	38805332	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=200;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1296	6	1	0	0
chrX	40659236	40659236	C	G	exonic	MED14	.	nonsynonymous SNV	MED14:NM_004229:exon28:c.G3963C:p.K1321N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.390	0.17489678043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.112e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	0.895	0.49247	P	0.452	0.46163	P	0.000000	0.84330	D	0.000000	0.999994	0.58761	D	1.495	0.37439	L	.	.	.	-2.46	0.67477	N	0.728	0.72925	-0.9858	0.33639	T	0.121	0.42079	T	9	0.45023692	0.58652	T	0.174897	0.85114	D	0.390	0.70603	0.391	0.41443	0.65440912122	0.65152	0.8579709212488796	0.85760	2.13339230401	0.95189	0.920231461525	0.98341	D	0.282649	0.65539	T	0.0206146	0.54464	T	-0.208165	0.53871	T	0.937414467334747	0.60718	D	0.971903	0.89805	D	0.74301934	0.80465	0.57960075	0.75634	0.74301934	0.80467	0.57960075	0.75635	-4.488	0.30731	T	.	.	0.939	0.91004	P	.;.;.	.;.;.	3.095469	0.41698	21.4	0.99746837329826044	0.83927	0.88740	0.48813	D	AEFBI	.	.	.	.	.	.	.	.	.	0.653678985306803	0.22192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.35	0.625	0.16838	0.563000	0.23250	0.590000	0.19811	0.599000	0.40250	0.998000	0.41325	0.999000	0.35428	1.000000	0.97212	0.0:0.4794:0.0:0.5206	9.651	0.39059	768	0.49510	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	93.77	35	chrX	40659236	.	C	G	93.77	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.591;DP=581;ExcessHet=1.1394;FS=178.225;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=0.678;SOR=10.021	GT:AD:DP:GQ:PL	0/0:125,34:166:64:0,64,1702	4	0	3	0
chrX	43958519	43958519	G	-	exonic	NDP	.	frameshift deletion	NDP:NM_000266:exon2:c.127delC:p.H43Tfs*61	Exudative vitreoretinopathy 2, X-linked;Norrie disease, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	34.4	34	chrX	43958518	.	TG	T	34.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.493;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.44;ReadPosRankSum=0.282;SOR=0.368	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	6	0	1	0
chrX	47081266	47081266	G	A	exonic	RGN	.	nonsynonymous SNV	RGN:NM_004683:exon2:c.G122A:p.R41Q,RGN:NM_001282849:exon3:c.G122A:p.R41Q,RGN:NM_152869:exon3:c.G122A:p.R41Q	.	.	.	.	.	.	.	.	.	.	.	3472718	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.173	0.0424422695355	.	.	5.709e-05	0	0	0.0008	0	0	0	0	3.23e-05	5	154602	rs781932759	1.093e-05	1.093e-05	1.361e-05	5.51e-06	9.933e-05	5.83e-06	4.6e-06	2.631e-05	1.429e-05	3.79e-05	0	0	9.933e-05	0	0	7.13e-06	4.341e-05	0	1.801e-05	1.742e-05	2.571e-05	0	0.0003	2.99e-06	1.12e-06	.	.	3.28e-05	0	0	0	0.0003	0	0	0	0	0	0.044	0.41096	D	0.139	0.36101	T	1.0	0.90584	D	0.868	0.61700	P	0.000001	0.62929	D	0.058123	0.999971	0.53665	D	2.925	0.84406	M	1.33	0.35031	T	-2.84	0.59873	D	0.237	0.26717	-0.8654	0.50871	T	0.194	0.54754	T	10	0.19124544	0.34802	T	0.042442	0.60467	D	0.173	0.43840	0.681	0.81885	0.245660935333	0.24156	0.7686962105115243	0.76818	0.018125632351	0.01770	0.275402158499	0.06860	T	0.691953	0.91051	D	-0.463675	0.00932	T	-0.587657	0.13869	T	0.359011239307202	0.27370	T	0.754025	0.37642	T	0.4962341	0.66873	0.36520848	0.61874	0.4962341	0.66874	0.36520848	0.61874	-5.411	0.41025	T	.	.	0.110	0.31783	B	.;.;.;.	.;.;.;.	1.823415	0.23168	15.91	0.9772536257289608	0.35585	0.60868	0.31319	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999822101516	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.68	3.9	0.44240	2.677000	0.46558	2.123000	0.30732	-0.129000	0.13216	1.000000	0.71638	0.990000	0.31317	0.297000	0.24428	0.0718:0.0:0.7932:0.1351	10.303	0.42844	2	0.99499	.;SMP-30/Gluconolactonase/LRE-like region;SMP-30/Gluconolactonase/LRE-like region;SMP-30/Gluconolactonase/LRE-like region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1309.64	36	chrX	47081266	.	G	A	1309.64	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.31;DP=269;ExcessHet=0;FS=0.729;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=1.18;SOR=0.794	GT:AD:DP:GQ:PL	0/1:61,51:112:99:1320,0,1470	6	0	1	0
chrX	47370706	47370706	C	T	exonic	ZNF157	.	nonsynonymous SNV	ZNF157:NM_003446:exon1:c.C38T:p.A13V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00288594737523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.831e-06	1.821e-06	1.364e-06	2.783e-06	3.776e-05	3e-07	1.1e-07	6.26e-06	2.34e-06	0	0	0	0	0	0	0	0	3.776e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.27080	T	0.284	0.21411	T	0.084	0.24799	B	0.034	0.22546	B	.	.	.	.	1	0.08975	N	0.72	0.18721	N	3.16	0.07711	T	-0.76	0.21215	N	0.103	0.08646	-0.9402	0.42584	T	0.015	0.06042	T	9	0.09545007	0.17048	T	0.002886	0.06074	T	0.014	0.01968	0.282	0.23801	0.697148158025	0.69453	0.43151347827604164	0.43068	0.0272404351771	0.02780	0.717023551464	0.69613	T	0.028885	0.20821	T	-0.419245	0.01729	T	-0.839993	0.01098	T	0.0670272409915924	0.08227	T	0.253475	0.03884	T	0.09319971	0.21883	0.13030869	0.31314	0.09319971	0.21883	0.13030869	0.31313	-4.07	0.24846	T	.	.	0.097	0.15921	B	.	.	0.606635	0.09749	6.518	0.98835202497810026	0.47018	0.01572	0.05130	N	AEFBI	.	.	.	.	.	.	.	.	.	0.021226936098994	0.13330	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.29	2.41	0.28644	0.256000	0.18120	0.373000	0.17698	0.594000	0.32500	0.006000	0.17386	0.000000	0.08366	0.026000	0.12556	0.0:0.7421:0.2579:0.0	7.609	0.27286	556	0.71678	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	914.52	20	chrX	47370706	.	C	T	914.52	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.153;DP=118;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=21.77;ReadPosRankSum=0.769;SOR=0.516	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,988	5	1	1	0
chrX	47624357	47624357	T	C	exonic	CFP	.	nonsynonymous SNV	CFP:NM_001145252:exon9:c.A1328G:p.Q443R,CFP:NM_002621:exon10:c.A1328G:p.Q443R	Properdin deficiency, X-linked, X-linked recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.208463659086	.	.	3.419e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs765506323	2.277e-05	2.276e-05	1.361e-05	4.131e-05	0.0005	1.563e-05	1.321e-05	0.0002	0.0002	0	0	0	0	0	0.0005	2.376e-06	6.51e-05	0.0003	9.14e-06	8.713e-06	0	3.161e-05	0.0004	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.094	0.31383	T	0.089	0.40426	T	0.922	0.51142	P	0.737	0.55577	P	0.000384	0.44960	D	0.199169	0.690962	0.30191	N	2.77	0.80896	M	1.01	0.41058	T	-0.86	0.23372	N	0.079	0.05542	-0.7123	0.59839	T	0.184	0.53209	T	10	0.20570028	0.36805	T	0.208464	0.87148	D	0.131	0.35738	0.213	0.13210	0.161926535498	0.15789	0.8119961574407116	0.81155	1.32521454968	0.83545	0.416357636452	0.27336	T	0.162	0.50619	T	-0.401227	0.02273	T	-0.529398	0.19346	T	0.49982351064682	0.32622	T	0.650635	0.26150	T	0.33636817	0.55989	0.22174941	0.46996	0.33636817	0.55989	0.22174941	0.46995	-3.483	0.16195	T	0.6340147266199567	0.70379	0.091	0.12891	B	.;.	.;.	3.355123	0.46298	22.3	0.98718912238097489	0.45171	0.64613	0.32464	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999953113018	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.54	5.54	0.82907	3.090000	0.49888	7.830000	0.70079	0.661000	0.55757	0.998000	0.41325	1.000000	0.68203	0.213000	0.22268	0.0:0.0:0.0:1.0	11.122	0.47518	628	0.65206	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	5527.71	35	chrX	47624357	.	T	C	5527.71	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.225;DP=442;ExcessHet=0;FS=1.016;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=18.87;ReadPosRankSum=0.565;SOR=0.784	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1412	5	1	1	0
chrX	48601934	48601934	G	A	exonic	WDR13	.	nonsynonymous SNV	WDR13:NM_001166426:exon5:c.G706A:p.V236I,WDR13:NM_017883:exon6:c.G982A:p.V328I,WDR13:NM_001347217:exon7:c.G982A:p.V328I,WDR13:NM_001347219:exon7:c.G706A:p.V236I	.	415	1102	3	2	0	7	0.00316599	.	.	.	729838	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.066	0.0172953416684	0.0009	0.0010596	0.0005	0	0.0006	0	0	0.0008	0	0.0003	0.000511	79	154602	rs150193416	0.0007	0.0008	0.0008	0.0007	0.0012	0.0007	0.0007	0.0008	0.0008	0.0001	0.0011	5.437e-05	0	2.498e-05	0.0012	0.0008	0.0007	0.0005	0.0008	0.0008	0.0008	0.0008	0.0014	0.0007	0.0006	0.0011	0.0010	9.625e-05	0	0.0011	0	0	0	0.0092	0.0014	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.000428	0.44522	D	0.193011	0.981097	0.25064	N	.	.	.	-0.14	0.65006	T	0.64	0.02368	N	0.084	0.06322	-0.9977	0.30563	T	0.071	0.29034	T	10	0.011793971	0.00256	T	0.017295	0.38942	T	0.066	0.19193	.	.	0.117191471859	0.11215	0.3298744993299428	0.32900	0.829028930232	0.67549	0.488516926765	0.37232	T	0.012755	0.11155	T	-0.570031	0.00221	T	-0.637138	0.09879	T	0.00486686565546215	0.00052	T	0.810219	0.46129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04436	B	.;.;.	.;.;.	0.831588	0.12032	8.586	0.26226034530664866	0.01246	0.77327	0.38007	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.981586576131432	0.30283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4	3.65	0.40985	1.985000	0.40289	3.736000	0.39634	-0.131000	0.13161	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2829:0.0:0.7171:0.0	7.170	0.24893	167	0.93508	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.001376	0.000000	0.001855	0.000000	0.000000	0.000000	0.004425	0.000000	0.07143	712.44	80	chrX	48601934	.	G	A	712.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.721;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=-0.692;SOR=0.638	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1218	6	0	1	0
chrX	49039321	49039321	G	A	exonic	TFE3	.	nonsynonymous SNV	TFE3:NM_001282142:exon3:c.C5T:p.S2L,TFE3:NM_006521:exon3:c.C320T:p.S107L	Renal cell carcinoma, papillary, 1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00633501382377	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1264471344	3.693e-06	3.652e-06	4.101e-06	2.843e-06	3.338e-05	8.6e-07	5.8e-07	9.6e-07	2.7e-07	0	0	0	3.338e-05	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.213	0.26467	T	0.081	0.24602	B	0.006	0.12133	B	0.033198	0.24930	N	0.326142	0.592321	0.32467	D	1.7	0.43825	L	2.36	0.16089	T	-1.73	0.41046	N	0.299	0.33796	-1.0749	0.08369	T	0.033	0.14290	T	10	0.24231541	0.41425	T	0.006335	0.16639	T	0.049	0.13647	0.27	0.21893	0.138757226776	0.13463	0.5193158588637525	0.51854	0.814098478581	0.66863	0.759120702744	0.75799	T	0.589346	0.86673	D	-0.247526	0.14404	T	-0.59333	0.13380	T	0.7932049036026	0.45900	D	0.885811	0.61165	D	0.2122582	0.43572	0.26008326	0.51767	0.2122582	0.43572	0.26008326	0.51766	-3.557	0.17239	T	.	.	0.142	0.31177	B	.	.	4.345984	0.66707	25.0	0.99770152349359653	0.85834	0.95598	0.65363	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999971519615	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.36	4.5	0.54382	3.035000	0.49449	11.610000	0.93539	0.676000	0.76740	0.982000	0.35529	1.000000	0.68203	1.000000	0.97212	0.0948:0.0:0.9052:0.0	10.422	0.43544	36	0.98055	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	56.34	42	chrX	49039321	.	G	A	56.34	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.337;DP=318;ExcessHet=1.383;FS=223.934;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.46;ReadPosRankSum=-0.631;SOR=8.086	GT:AD:DP:GQ:PL	0/0:82,22:104:33:0,33,1424	3	0	3	1
chrX	49183906	49183906	T	G	exonic	PRICKLE3	.	nonsynonymous SNV	PRICKLE3:NM_006150:exon3:c.A140C:p.Q47P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.0550194908856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.194	0.28120	T	0.741	0.42992	P	0.474	0.46883	P	.	.	.	.	1	0.81001	D	1.735	0.44892	L	1.3	0.35590	T	-1.55	0.37566	N	0.621	0.63628	-1.0363	0.18450	T	0.097	0.36445	T	9	0.37614223	0.53846	T	0.055019	0.66075	D	0.218	0.51265	0.482	0.56302	0.311387274539	0.30754	0.7808768006625961	0.78038	0.766097499569	0.64522	0.630308508873	0.57188	T	0.071384	0.39453	T	0.0228514	0.54765	T	-0.204952	0.54177	T	0.744423687458038	0.42977	D	0.885811	0.61165	D	0.4391945	0.63350	0.43231058	0.66821	0.4391945	0.63351	0.43231058	0.66821	-13.877	0.92651	D	.	.	0.684	0.74982	P	.;.	.;.	3.821254	0.55182	23.6	0.99433653120017074	0.64374	0.74636	0.36516	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999995347337047	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.67	4.67	0.58089	1.164000	0.31420	7.779000	0.68628	0.665000	0.62972	0.942000	0.32722	1.000000	0.68203	0.952000	0.50033	0.0:0.0:0.0:1.0	11.363	0.48893	34	0.98095	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1205.63	35	chrX	49183906	.	T	G	1205.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.67;DP=261;ExcessHet=0;FS=1.88;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-1.518;SOR=0.981	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	6	0	1	0
chrX	49248860	49248860	C	G	exonic	CCDC22	.	nonsynonymous SNV	CCDC22:NM_014008:exon13:c.C1475G:p.A492G	Ritscher-Schinzel syndrome 2, X-linked recessive	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.030144194155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.34269	T	0.099	0.38891	T	0.45	0.36066	B	0.154	0.34351	B	0.000000	0.84330	D	0.050779	1	0.81001	D	1.845	0.48678	L	.	.	.	-2.65	0.56787	D	0.456	0.49328	-0.9128	0.46505	T	0.163	0.49930	T	9	0.43909964	0.57985	T	0.030144	0.52519	D	0.171	0.43483	0.553	0.66995	0.422872527889	0.41901	0.23989516607220324	0.23903	0.170301516549	0.19201	0.528756141663	0.42858	T	0.550929	0.84793	D	0.0363487	0.56565	T	-0.185564	0.56004	T	0.918463706970215	0.57674	D	0.783822	0.42110	T	0.6750387	0.76703	0.66960424	0.80617	0.6750387	0.76705	0.66960424	0.80618	-8.302	0.63109	D	0.4608521760587884	0.54309	0.233	0.46585	B	.	.	3.941210	0.57670	23.9	0.99559542714346594	0.71707	0.97699	0.76499	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999999999939	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.52	5.52	0.82153	5.750000	0.68350	5.891000	0.50761	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.125	0.86590	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1116.53	35	chrX	49248860	.	C	G	1116.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.763;DP=232;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.73;ReadPosRankSum=1.85;SOR=0.61	GT:AD:DP:GQ:PL	0/1:31,40:71:99:1127,0,799	6	0	1	0
chrX	49332776	49332776	A	T	exonic	GAGE13;GAGE2D;GAGE2E;GAGE8	.	nonsynonymous SNV	GAGE2D:NM_001098407:exon2:c.A39T:p.R13S,GAGE13:NM_001098412:exon2:c.A39T:p.R13S,GAGE2E:NM_001127200:exon2:c.A39T:p.R13S,GAGE8:NM_012196:exon2:c.A39T:p.R13S	.	548	918	55	1	0	57	0.0301109	.	.	.	3977508	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.0963211805793	.	.	0.0021	0	0	0.0870	0	0	0	0.0127	.	.	.	rs782197330	0.0004	0.0024	0.0006	1.027e-05	0.0011	0.0004	0.0004	0.0008	0.0007	0.0002	0.0011	0.0007	0.0004	0.0004	0.0006	0.0004	0.0003	0.0002	0.0003	0.0033	0.0004	0	0.0005	0.0002	0.0002	0.0002	0.0002	0.0003	0	0	0	0	0.0015	0	0.0005	0	0	.	.	.	0.065	0.44702	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.179	0.19325	-1.0272	0.21363	T	0.034	0.14639	T	8	0.10150775	0.18551	T	0.096321	0.76582	D	.	.	.	.	0.0551355673512	0.04727	0.044374252869738985	0.04381	.	.	0.481666773558	0.36287	T	0.023792	0.18095	T	-0.449224	0.01141	T	-0.883056	0.00629	T	0.489776283502579	0.32256	T	0.334567	0.07109	T	0.41984916	0.62081	0.30143943	0.56176	0.41984916	0.62082	0.30143943	0.56175	-4.846	0.35123	T	.	.	0.287	0.51951	B	.	.	1.310242	0.17132	12.98	0.98174813158402829	0.38890	0.00875	0.03461	N	AEFI	.	.	.	.	.	.	.	.	.	1.42886845054689E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	0.78	0.17701	-0.334000	0.07927	-1.097000	0.06340	-0.565000	0.04808	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	53	0.97589	GAGE|GAGE	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.034783	0.047619	0.007092	0.026316	0.000000	0.000000	0.106383	0.062500	0.1667	127.29	3	chrX	49332776	.	A	T	127.29	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.282;DP=27;ExcessHet=0.4139;FS=11.139;MLEAC=2;MLEAF=0.167;MQ=27.58;MQRankSum=0;QD=10.61;ReadPosRankSum=2.19;SOR=0.019	GT:AD:DP:GQ:PL	./.:5,0:5:0:0,0,115	4	0	2	1
chrX	50607408	50607408	G	A	exonic	SHROOM4	.	nonsynonymous SNV	SHROOM4:NM_020717:exon6:c.C3734T:p.S1245L	.	3	1501	13	5	0	23	0.00760331	.	.	.	135758	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.078	.	0.0028	0.0455629	0.0198	0.0014	0.0003	0.2134	0.0080	0.0028	0.0244	0.0106	0.0171343	2649	154602	rs12689863	0.0087	0.0087	0.0086	0.0089	0.2003	0.0086	0.0085	0.1961	0.1944	0.0008	0.0002	0	0.2003	0.0073	0.0088	0.0020	0.0171	0.0130	0.0088	0.0092	0.0087	0.0091	0.2059	0.0084	0.0082	0.1934	0.1884	0.0016	0	0.0016	0	0.2059	0.0072	0	0.0021	0.0080	0.0134	0.014	0.55530	D	0.325	0.42614	T	0.448	0.36030	B	0.102	0.30857	B	0.324988	0.14208	N	0.644220	0.999958	0.19072	P	1.1	0.28011	L	2.86	0.15145	T	-0.9	0.25332	N	0.193	0.21188	-1.0102	0.26854	T	0.000	0.00075	T	9	0.0011920631	0.00013	T	.	.	.	0.078	0.22779	.	.	.	.	0.2656513934785834	0.26478	0.229262324409	0.25486	0.416584044695	0.27367	T	0.010154	0.09196	T	-0.682457	0.00046	T	-0.609258	0.12045	T	0.0151797342808891	0.00332	T	0.810419	0.47040	T	0.1263741	0.29601	0.16902532	0.38906	0.10865076	0.25689	0.17445233	0.39841	-3.84	0.21403	T	.	.	0.095	0.15206	B	.;.;.	.;.;.	2.437309	0.31360	18.72	0.9137041917129346	0.20635	0.80443	0.40079	D	AEFBI	.	.	.	.	.	.	.	.	.	0.998965970584086	0.38084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.36	4.36	0.51643	3.722000	0.54675	5.651000	0.49183	0.676000	0.76740	0.953000	0.33222	1.000000	0.68203	0.545000	0.30055	0.0:0.0:1.0:0.0	11.244	0.48216	799	0.44747	Apx/Shrm Domain 2;Apx/Shrm Domain 2;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011757	0.000000	0.005566	0.023715	0.000000	0.000000	0.004425	0.036842	0.08333	602.27	57	chrX	50607408	.	G	A	602.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.143;DP=215;ExcessHet=0;FS=3.72;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-0.04;SOR=1.302	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1040	5	0	1	1
chrX	51618674	51618674	G	A	exonic	CENPVL3	.	nonsynonymous SNV	CENPVL3:NM_001355276:exon1:c.C200T:p.A67V	.	972	545	2	3	0	8	0.00728597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000529801	.	.	.	.	.	.	.	.	0.00146	38	26028	rs538868460	0.0051	0.0021	0.0049	0.0055	0.0185	0.0048	0.0047	0.0118	0.0097	0.0007	0.0025	0.0252	0	0.0008	0.0185	0.0055	0.0059	0.0005	0.0033	0.0035	0.0035	0.0031	0.0047	0.0031	0.0030	0.0042	0.0040	0.0005	0	0.0031	0.0253	0	0	0.0047	0.0047	0.0045	0.0011	.	.	.	0.536	0.09897	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.05287	.	.	.	.	.	.	.	0.004308492	0.00087	T	.	.	.	.	.	.	.	.	.	0.0970760568449574	0.09638	.	.	.	.	.	0.01623	0.13458	T	.	.	.	.	.	.	.	.	.	0.246775	0.03632	T	0.028518168	0.02202	0.09111467	0.21405	0.028518168	0.02201	0.09111467	0.21404	-5.089	0.37791	T	.	.	0.070	0.03552	B	.	.	-0.144471	0.03387	0.607	0.97837391998570089	0.36305	0.00190	0.01102	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.682707950331134	0.22498	.	.	.	.	.	.	.	.	.	.	.	.	0.0762906	0.17648	2.4	-0.294	0.12196	-1.058000	0.03593	-0.537000	0.08604	-0.121000	0.13915	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.3043:0.0:0.6957:0.0	7.169	0.24883	238	0.90711	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	33	chrX	51618674	.	G	A	33.22	.	AC=2;AF=0.143;AN=14;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	1	0	0
chrX	52645512	52645512	G	T	exonic	SSX7	.	nonsynonymous SNV	SSX7:NM_173358:exon7:c.C498A:p.H166Q	.	574	921	19	8	0	35	0.0186468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00115581005071	0.0003	0.000794702	0.0015	0.0001	0.0007	0	0.0002	0.0010	0.0017	0.0088	0.0013519	209	154602	rs140270142	0.0008	0.0008	0.0006	0.0011	0.0076	0.0007	0.0007	0.0070	0.0067	0.0002	0.0004	5.181e-05	0	0.0002	0.0049	0.0004	0.0015	0.0076	0.0005	0.0005	0.0005	0.0004	0.0061	0.0004	0.0003	0.0037	0.0029	0	0	0.0003	0	0	0.0004	0.0187	0.0005	0.0007	0.0061	0.045	0.40832	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.981855	0.08089	N	0.990272	1	0.08975	N	1.735	0.44892	L	3.02	0.08986	T	-4.01	0.74193	D	0.083	0.05929	-1.0309	0.20163	T	0.043	0.18368	T	9	0.017364323	0.00370	T	0.001156	0.01434	T	0.043	0.11576	0.625	0.76028	0.124217242631	0.12060	0.019118630108168996	0.01865	0.0846703926005	0.09566	.	.	.	0.097019	0.39943	T	-0.780015	0.00011	T	-0.889907	0.00576	T	0.0632977574388991	0.07678	T	0.628437	0.24364	T	0.31683895	0.54371	0.30969945	0.56983	0.31683895	0.54371	0.30969945	0.56983	-3.555	0.17211	T	.	.	0.291	0.52276	B	.	.	1.133374	0.15202	11.67	0.90510151936288608	0.19766	0.00137	0.00841	N	AEFI	.	.	.	.	.	.	.	.	.	2.57898012659665E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.541	-1.08	0.09428	0.126000	0.15597	-2.284000	0.03952	-0.551000	0.04898	0.001000	0.13787	0.000000	0.08366	0.117000	0.19042	.	.	.	484	0.77165	SSXRD motif	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.006700	0.000000	0.005629	0.005952	0.000000	0.012048	0.006061	0.011976	0.1429	1147.63	22	chrX	52645512	.	G	T	1147.63	.	AC=2;AF=0.143;AN=14;DP=193;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=38.69;QD=32.79;SOR=1.675	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	6	1	0	0
chrX	54238395	54238395	C	G	exonic	WNK3	.	nonsynonymous SNV	WNK3:NM_001002838:exon19:c.G3820C:p.A1274P,WNK3:NM_020922:exon19:c.G3961C:p.A1321P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.232290703586	.	.	3.441e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs782221000	1.822e-05	1.821e-05	1.497e-05	2.479e-05	0.0005	1.19e-05	9.67e-06	0.0002	0.0001	0	0	0	0	0	0.0005	2.376e-06	2.171e-05	0.0003	1.787e-05	1.741e-05	1.285e-05	2.933e-05	0.0008	2.97e-06	1.11e-06	0.0001	5.543e-05	0	0	0	0	0	0	0	0	0	0.0008	0.006	0.61437	D	0.272	0.23164	T	0.003	0.11197	B	0.011	0.15521	B	0.204086	0.16527	N	0.544962	1	0.08975	N	0.805	0.20218	L	-0.5	0.70833	T	-1.4	0.38151	N	0.153	0.15749	-1.0295	0.20616	T	0.155	0.48636	T	10	0.05157432	0.05059	T	0.232291	0.88314	D	0.044	0.11924	0.293	0.25560	0.220282294035	0.21616	0.5777675379425738	0.57705	0.277327358951	0.30209	0.353463768959	0.18431	T	0.062499	0.31932	T	-0.450757	0.01118	T	-0.58071	0.14482	T	0.0617594144810196	0.07444	T	0.626737	0.25394	T	0.3609784	0.57910	0.3093593	0.56951	0.3609784	0.57911	0.3093593	0.56950	-3.512	0.16741	T	.	.	0.176	0.38534	B	.;.;.;.	.;.;.;.	2.201710	0.28079	17.68	0.98798974773227455	0.46413	0.37988	0.25886	N	AEFGBI	.	.	.	.	.	.	.	.	.	9.06946502425865E-5	0.04703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.17	2.06	0.25932	0.641000	0.24411	0.920000	0.22697	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1822:0.5035:0.1506:0.1637	2.397	0.04125	5	0.99359	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.001376	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.010526	0.2143	3002.03	33	chrX	54238395	.	C	G	3002.03	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.1;DP=284;ExcessHet=0;FS=0.628;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=18.65;ReadPosRankSum=-0.445;SOR=0.782	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1108	5	1	1	0
chrX	54541300	54541300	G	A	exonic	GNL3L	.	nonsynonymous SNV	GNL3L:NM_001184819:exon5:c.G217A:p.A73T,GNL3L:NM_019067:exon5:c.G217A:p.A73T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00423155771091	.	.	1.168e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs769334911	1.004e-05	1.002e-05	8.168e-06	1.385e-05	9.249e-05	5.39e-06	3.94e-06	3.545e-05	2.359e-05	0	0	5.165e-05	3.312e-05	0	0	3.572e-06	2.173e-05	9.249e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339	0.12754	T	0.583	0.08419	T	0.0	0.02946	B	0.001	0.04355	B	0.014528	0.28506	N	0.360256	0.563298	0.31239	N	2.605	0.76211	M	2.18	0.18875	T	-1.0	0.26422	N	0.065	0.03726	-1.0638	0.10831	T	0.040	0.17020	T	10	0.050325662	0.04748	T	0.004232	0.10216	T	0.055	0.15663	0.189	0.09907	0.353352923073	0.34951	0.1223804703816309	0.12165	0.183203080201	0.20607	0.286334753036	0.08391	T	0.053083	0.29344	T	-0.584501	0.00181	T	-0.817692	0.01499	T	0.0762359122532801	0.09498	T	0.494351	0.15306	T	0.10660654	0.25207	0.14066295	0.33522	0.10660654	0.25207	0.14066295	0.33521	-5.416	0.41073	T	.	.	0.076	0.05800	B	.;.	.;.	0.777743	0.11479	8.081	0.98478116481729183	0.41943	0.51738	0.28966	D	AEFBI	.	.	.	.	.	.	.	.	.	0.975662728204231	0.29654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.13	4.13	0.47661	0.356000	0.19918	2.853000	0.35153	-0.107000	0.15377	0.589000	0.27658	1.000000	0.68203	0.735000	0.35267	0.0:0.0:1.0:0.0	13.625	0.61627	96	0.96030	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1484.44	35	chrX	54541300	.	G	A	1484.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.378;DP=321;ExcessHet=0;FS=0.653;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=0.271;SOR=0.625	GT:AD:DP:GQ:PL	0/1:67,62:129:99:1495,0,1656	6	0	1	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.6429	77347.4	456	chrX	55146104	.	G	A	77347.4	.	AC=9;AF=0.643;AN=14;BaseQRankSum=1.09;DP=3383;ExcessHet=4.7409;FS=0.72;MLEAC=9;MLEAF=0.643;MQ=60;MQRankSum=0;QD=23.53;ReadPosRankSum=0.916;SOR=0.605	GT:AD:DP:GQ:PL	0/1:176,558:734:99:14870,0,2813	0	2	5	0
chrX	55146139	55146139	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C296T:p.T99I,FAM104B:NM_001166701:exon3:c.C293T:p.T98I,FAM104B:NM_001166702:exon3:c.C284T:p.T95I,FAM104B:NM_001166703:exon3:c.C290T:p.T97I	.	392	597	530	3	0	536	0.309827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00183666452811	.	.	1.173e-05	0	0	0	0	2.144e-05	0	0	0.0003842	10	26028	rs111573608	0	2.735e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.719e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.2	0.37405	T	1.24	0.01024	N	0.218	0.30461	-0.9951	0.31272	T	0.031	0.13330	T	9	0.02422443	0.00659	T	0.001837	0.03193	T	0.027	0.05988	.	.	0.107399877778	0.10242	0.2636019881297539	0.26273	0.0855686498455	0.09666	.	.	.	.	.	.	-0.525263	0.00410	T	-0.99228	0.00154	T	0.0269564041948217	0.01537	T	0.618838	0.26722	T	.	.	.	.	.	.	.	.	-2.987	0.10042	T	.	.	0.077	0.10159	B	.;.;.	.;.;.	-0.509590	0.01836	0.146	0.55558757236298129	0.05367	0.01261	0.04425	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999998720991634	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-3.2	0.04838	0.118000	0.15436	-7.508000	0.01142	-0.947000	0.02050	0.987000	0.36337	0.000000	0.08366	0.919000	0.45453	0.5556:0.0:0.4444:0.0	6.324	0.20437	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.018776	0.006803	0.014842	0.027668	0.000000	0.023529	0.022124	0.021053	0.2143	7311.37	432	chrX	55146139	.	G	A	7311.37	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.007;DP=3394;ExcessHet=1.1394;FS=0.599;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=4.84;ReadPosRankSum=1.14;SOR=0.581	GT:AD:DP:GQ:PL	0/0:729,0:729:99:0,120,1800	4	0	3	0
chrX	55146163	55146163	C	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.G272C:p.G91A,FAM104B:NM_001166701:exon3:c.G269C:p.G90A,FAM104B:NM_001166702:exon3:c.G260C:p.G87A,FAM104B:NM_001166703:exon3:c.G266C:p.G89A	.	374	1096	52	0	0	52	0.0231729	.	.	.	2347869	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.112	0.0083066206165	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749664168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.61437	D	0.014	0.62352	D	0.998	0.73220	D	0.987	0.77487	D	.	.	.	.	1	0.18612	N	.	.	.	0.67	0.52187	T	-5.02	0.82511	D	0.522	0.59732	-0.9991	0.30171	T	0.170	0.51149	T	9	0.29008466	0.46589	T	0.008307	0.22004	T	0.112	0.31546	0.422	0.46529	0.112648838833	0.10856	0.31106191669168637	0.31019	0.112868008101	0.12739	.	.	.	.	.	.	-0.220447	0.17933	T	-0.554434	0.16902	T	0.871886670589447	0.52177	D	0.80202	0.44827	T	.	.	.	.	.	.	.	.	-3.004	0.10224	T	.	.	0.214	0.48355	B	.;.;.	.;.;.	2.819106	0.37133	20.4	0.9914079276979646	0.53518	0.43990	0.27220	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.611000	0.45998	1.116000	0.24201	0.530000	0.24713	1.000000	0.71638	0.001000	0.17328	0.759000	0.36109	0.0:1.0:0.0:0.0	6.091	0.19219	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2147.44	432	chrX	55146163	.	C	G	2147.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.488;DP=3367;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.84;ReadPosRankSum=0.413;SOR=0.683	GT:AD:DP:GQ:PL	0/1:605,150:755:99:2158,0,17100	6	0	1	0
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S,FAM104B:NM_001166701:exon3:c.C259T:p.P87S,FAM104B:NM_001166702:exon3:c.C250T:p.P84S,FAM104B:NM_001166703:exon3:c.C256T:p.P86S	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00397070644289	.	.	0	0	0	0	0	0	0	0	0.0018057	47	26028	rs113745415	0	9.135e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.72e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.1	0.44029	T	0.019	0.59159	D	0.137	0.27402	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	1.03	0.40469	T	-0.15	0.09297	N	0.133	0.30461	-1.0449	0.15854	T	0.046	0.19680	T	9	0.10664967	0.19773	T	0.003971	0.09400	T	0.021	0.04004	.	.	0.0986583533028	0.09354	0.17703511721202211	0.17622	0.085900391515	0.09707	.	.	.	.	.	.	-0.47977	0.00741	T	-0.926933	0.00345	T	0.15306082367897	0.17345	T	0.714029	0.35027	T	.	.	.	.	.	.	.	.	-2.918	0.09324	T	.	.	0.099	0.18247	B	.;.;.	.;.;.	1.416818	0.18331	13.68	0.99268186498303135	0.57457	0.22113	0.21636	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986653019121	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.635	0.16895	0.918000	0.28299	0.017000	0.13531	0.596000	0.33519	0.999000	0.42656	0.000000	0.08366	0.033000	0.13494	0.0:0.0:0.6213:0.3787	4.527	0.11390	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011073	0.020408	0.009276	0.003953	0.000000	0.035294	0.013274	0.005263	0.2857	7932.13	432	chrX	55146173	.	G	A	7932.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.6;DP=3372;ExcessHet=2.5225;FS=1.254;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=5.16;ReadPosRankSum=0.486;SOR=0.613	GT:AD:DP:GQ:PL	0/0:714,0:714:99:0,120,1800	3	0	4	0
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X,FAM104B:NM_001166700:exon3:c.C238T:p.Q80X,FAM104B:NM_001166701:exon3:c.C235T:p.Q79X,FAM104B:NM_001166702:exon3:c.C226T:p.Q76X,FAM104B:NM_001166703:exon3:c.C232T:p.Q78X,FAM104B:NM_138362:exon3:c.C235T:p.Q79X	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0037	0.0002	0.0034	0.0004	0.0003	0	0.0012	0.0033426	87	26028	rs113263757	2.052e-05	0.0007	3.012e-05	0	0.0002	1.343e-05	1.147e-05	5.37e-05	3.17e-05	0.0002	0	0	0.0001	0	0	1.458e-05	4.432e-05	1.939e-05	0	5.238e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.066869	0.21780	U	0.325359	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.281	0.36359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166988	0.70845	D	0.00208969	0.70471	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;Tolerant;.;.	High;.;High;.;.	5.479427	0.91365	32	0.96222129513840093	0.29091	0.25851	0.22822	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.881000	0.39273	1.530000	0.27153	0.596000	0.33519	0.820000	0.29989	0.004000	0.18990	0.022000	0.11911	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.038244	0.034014	0.051948	0.011858	0.000000	0.058824	0.026549	0.036842	0.2857	6567.13	367	chrX	55146197	.	G	A	6567.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=2.82;DP=3136;ExcessHet=2.5225;FS=1.3;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=4.89;ReadPosRankSum=1.02;SOR=0.703	GT:AD:DP:GQ:PL	0/0:714,0:714:99:0,120,1800	3	0	4	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	71907.1	363	chrX	55146212	.	C	T	71907.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=1.54;DP=3046;ExcessHet=14.2834;FS=0;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.81;ReadPosRankSum=0.683;SOR=0.621	GT:AD:DP:GQ:PL	0/1:177,513:703:99:17210,0,3156	0	0	7	0
chrX	55146214	55146214	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C221T:p.P74L,FAM104B:NM_001166700:exon3:c.C221T:p.P74L,FAM104B:NM_001166701:exon3:c.C218T:p.P73L,FAM104B:NM_001166702:exon3:c.C209T:p.P70L,FAM104B:NM_001166703:exon3:c.C215T:p.P72L,FAM104B:NM_138362:exon3:c.C218T:p.P73L	.	380	1100	41	1	0	43	0.0191708	.	.	.	2333934	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.00876998388438	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866839768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.13789	T	0.12	0.67890	T	0.945	0.53279	P	0.851	0.71530	P	0.873191	0.07189	N	1.077440	1	0.08975	N	1.04	0.26193	L	1.07	0.39586	T	-0.45	0.14782	N	0.139	0.13769	-0.9995	0.30058	T	0.112	0.40029	T	10	0.054038584	0.05690	T	0.00877	0.23147	T	0.035	0.08770	0.339	0.32979	0.0920862733494	0.08535	0.15662812420360386	0.15583	0.455486312176	0.45221	0.226637601852	0.01728	T	0.01433	0.12223	T	-0.410012	0.01987	T	-0.826731	0.01321	T	0.0581960721379313	0.06881	T	0.710329	0.32115	T	0.04068161	0.05853	0.05239224	0.08621	0.04068161	0.05853	0.05239224	0.08621	-2.044	0.03351	T	.	.	0.102	0.18122	B	.;.;.;.;.	.;.;.;.;.	0.045960	0.04608	1.277	0.77836609989061178	0.12043	0.01031	0.03865	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999987030541589	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.4	0.11793	0.840000	0.27253	-1.999000	0.04367	0.596000	0.33519	0.027000	0.20232	0.000000	0.08366	0.112000	0.18829	0.2252:0.0:0.4531:0.3218	1.897	0.03062	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1857.44	285	chrX	55146214	.	G	A	1857.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.98;DP=2662;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.98;ReadPosRankSum=0.262;SOR=0.702	GT:AD:DP:GQ:PL	0/0:693,0:693:99:0,120,1800	6	0	1	0
chrX	55146220	55146220	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C215T:p.T72I,FAM104B:NM_001166700:exon3:c.C215T:p.T72I,FAM104B:NM_001166701:exon3:c.C212T:p.T71I,FAM104B:NM_001166702:exon3:c.C203T:p.T68I,FAM104B:NM_001166703:exon3:c.C209T:p.T70I,FAM104B:NM_138362:exon3:c.C212T:p.T71I	.	370	1115	37	0	0	37	0.0163211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00315731852392	.	.	.	.	.	.	.	.	.	.	.	.	.	rs139350637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.28900	T	0.012	0.63918	D	0.002	0.09854	B	0.001	0.11217	B	0.403105	0.13098	N	0.651113	1	0.08975	N	0	0.06538	N	1.0	0.41392	T	-2.39	0.53420	N	0.143	0.17416	-1.0500	0.14397	T	0.044	0.18783	T	10	0.08485773	0.14265	T	0.003157	0.06906	T	0.050	0.13987	0.229	0.15556	0.21279746466	0.20884	0.17900834119820064	0.17819	0.0855686498455	0.09666	0.284664392471	0.08152	T	0.064288	0.32395	T	-0.485039	0.00692	T	-0.934502	0.00314	T	0.0454948231379387	0.04692	T	0.562944	0.19809	T	0.04842347	0.08436	0.06225213	0.12149	0.04842347	0.08435	0.06225213	0.12148	-3.671	0.21044	T	.	.	0.105	0.19276	B	.;.;.;.;.	.;.;.;.;.	1.149813	0.15376	11.80	0.59458040411249835	0.06229	0.02746	0.07427	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986991742866	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.258	0.12334	2.442000	0.44531	0.791000	0.21569	-0.927000	0.02165	0.030000	0.20431	0.000000	0.08366	0.263000	0.23594	0.1901:0.0:0.5373:0.2726	2.545	0.04447	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1673.44	285	chrX	55146220	.	G	A	1673.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.193;DP=2585;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.4;ReadPosRankSum=-0.864;SOR=0.706	GT:AD:DP:GQ:PL	0/1:573,123:696:99:1684,0,19137	6	0	1	0
chrX	55146226	55146226	A	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.T209C:p.I70T,FAM104B:NM_001166700:exon3:c.T209C:p.I70T,FAM104B:NM_001166701:exon3:c.T206C:p.I69T,FAM104B:NM_001166702:exon3:c.T197C:p.I66T,FAM104B:NM_001166703:exon3:c.T203C:p.I68T,FAM104B:NM_138362:exon3:c.T206C:p.I69T	.	377	953	191	1	0	193	0.0919485	.	.	.	2292730	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.00406903138937	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs5018687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.10378	T	0.268	0.22694	T	0.393	0.34680	B	0.291	0.53365	B	0.039374	0.24178	N	0.273281	1	0.08975	N	0.64	0.16041	N	0.95	0.43279	T	-0.72	0.25332	N	0.2	0.23506	-0.9521	0.40608	T	0.090	0.34463	T	10	0.055033892	0.05951	T	0.004069	0.09712	T	0.021	0.04004	.	.	0.141422826196	0.13715	0.06275098226723172	0.06214	0.248494845932	0.27412	0.330263495445	0.14974	T	0.020098	0.15887	T	-0.449697	0.01134	T	-0.883735	0.00624	T	0.0690480346428045	0.08518	T	0.637636	0.25136	T	0.03846359	0.05127	0.06403163	0.12771	0.03846359	0.05127	0.06403163	0.12771	-2.966	0.10052	T	.	.	0.086	0.10787	B	.;.;.;.;.	.;.;.;.;.	-0.138938	0.03417	0.621	0.94453687128581543	0.24887	0.00870	0.03447	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988350960953	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.877	0.10083	-0.230000	0.09093	-3.501000	0.02739	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.713000	0.34548	0.5262:0.0:0.4738:0.0	4.189	0.09871	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	1616.24	285	chrX	55146226	.	A	G	1616.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.761;DP=2585;ExcessHet=0.3476;FS=0.765;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.49;ReadPosRankSum=-0.326;SOR=0.824	GT:AD:DP:GQ:PL	0/1:601,90:691:99:805,0,22680	5	0	2	0
chrX	55146242	55146242	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G193A:p.G65S,FAM104B:NM_001166700:exon3:c.G193A:p.G65S,FAM104B:NM_001166701:exon3:c.G190A:p.G64S,FAM104B:NM_001166702:exon3:c.G181A:p.G61S,FAM104B:NM_001166703:exon3:c.G187A:p.G63S,FAM104B:NM_138362:exon3:c.G190A:p.G64S	.	381	695	446	0	0	446	0.242919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00575512673883	.	.	1.14e-05	0	0	0	0	0	0	9.881e-05	0.0002199	34	154602	rs751109928	9.107e-07	9.105e-07	1.361e-06	0	1.847e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.08685	T	0.847	0.04029	T	0.988	0.62325	D	0.931	0.76916	D	0.181380	0.17093	N	0.523101	1	0.08975	N	-0.405	0.02972	N	1.06	0.39781	T	0.88	0.01688	N	0.111	0.10340	-1.0096	0.27043	T	0.074	0.29897	T	10	0.024912208	0.00703	T	0.005755	0.14922	T	0.094	0.27141	0.117	0.02508	0.124217242631	0.12060	0.06545832632961472	0.06484	0.113139730866	0.12771	0.240586742759	0.02843	T	0.003551	0.02960	T	-0.539992	0.00335	T	-0.863145	0.00810	T	0.0237543456519899	0.01114	T	0.722728	0.37993	T	0.05084061	0.09248	0.06469397	0.13002	0.05084061	0.09248	0.06469397	0.13002	-2.72	0.09386	T	.	.	0.081	0.08176	B	.;.;.;.;.	.;.;.;.;.	0.646134	0.10147	6.889	0.73921017372164155	0.10504	0.01488	0.04944	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986279423699	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.436	0.15762	0.673000	0.24883	0.315000	0.17124	-0.343000	0.05659	0.980000	0.35271	0.000000	0.08366	0.977000	0.56843	0.0:0.3059:0.0:0.6941	2.954	0.05513	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	6361.13	283	chrX	55146242	.	C	T	6361.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.016;DP=2488;ExcessHet=2.5225;FS=0;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=4.22;ReadPosRankSum=0.945;SOR=0.691	GT:AD:DP:GQ:PL	0/1:492,148:640:99:2540,0,17972	3	0	4	0
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R,FAM104B:NM_001166700:exon3:c.C188G:p.P63R,FAM104B:NM_001166701:exon3:c.C185G:p.P62R,FAM104B:NM_001166702:exon3:c.C176G:p.P59R,FAM104B:NM_001166703:exon3:c.C182G:p.P61R,FAM104B:NM_138362:exon3:c.C185G:p.P62R	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.013879	0.020408	0.018553	0.003953	0.000000	0.023529	0.013274	0.005263	0.2857	5365.13	241	chrX	55146247	.	G	C	5365.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.165;DP=2350;ExcessHet=2.5225;FS=0.657;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=5.83;ReadPosRankSum=-0.657;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:589,0:589:99:.:.:0,120,1800:.	3	0	4	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166700:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166701:exon3:c.179_180insA:p.S60Rfs*13,FAM104B:NM_001166702:exon3:c.170_171insA:p.S57Rfs*13,FAM104B:NM_001166703:exon3:c.176_177insA:p.S59Rfs*13,FAM104B:NM_138362:exon3:c.179_180insA:p.S60Rfs*13	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	5298.09	241	chrX	55146252	.	A	AT	5298.09	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.55;DP=2302;ExcessHet=2.5225;FS=0.655;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=5.98;ReadPosRankSum=-1.221;SOR=0.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:589,0:589:99:.:.:0,120,1800:.	3	0	4	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G,FAM104B:NM_001166700:exon3:c.A181G:p.S61G,FAM104B:NM_001166701:exon3:c.A178G:p.S60G,FAM104B:NM_001166702:exon3:c.A169G:p.S57G,FAM104B:NM_001166703:exon3:c.A175G:p.S59G,FAM104B:NM_138362:exon3:c.A178G:p.S60G	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	46390.1	239	chrX	55146254	.	T	C	46390.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.127;DP=2318;ExcessHet=14.2834;FS=2.658;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.82;ReadPosRankSum=-0.102;SOR=0.514	GT:AD:DP:GQ:PL	0/1:162,423:585:99:15134,0,3212	0	0	7	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166700:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166701:exon3:c.176delC:p.A59Efs*8,FAM104B:NM_001166702:exon3:c.167delC:p.A56Efs*8,FAM104B:NM_001166703:exon3:c.173delC:p.A58Efs*8,FAM104B:NM_138362:exon3:c.176delC:p.A59Efs*8	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	5246.09	181	chrX	55146255	.	TG	T	5246.09	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.588;DP=2026;ExcessHet=2.5225;FS=0.657;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=6.16;ReadPosRankSum=-1.383;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:503,0:503:99:.:.:0,120,1800:.	3	0	4	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L,FAM104B:NM_001166700:exon3:c.A160C:p.I54L,FAM104B:NM_001166701:exon3:c.A157C:p.I53L,FAM104B:NM_001166702:exon3:c.A148C:p.I50L,FAM104B:NM_001166703:exon3:c.A154C:p.I52L,FAM104B:NM_138362:exon3:c.A157C:p.I53L	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.5	45507.1	184	chrX	55146275	.	T	G	45507.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.077;DP=1901;ExcessHet=14.2834;FS=7.332;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.06;ReadPosRankSum=-2.887;SOR=0.338	GT:AD:DP:GQ:PL	0/1:150,352:502:99:11153,0,3054	0	0	7	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N,FAM104B:NM_001166700:exon3:c.G152A:p.S51N,FAM104B:NM_001166701:exon3:c.G149A:p.S50N,FAM104B:NM_001166702:exon3:c.G140A:p.S47N,FAM104B:NM_001166703:exon3:c.G146A:p.S49N,FAM104B:NM_138362:exon3:c.G149A:p.S50N	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0110921071969	.	.	.	.	.	.	.	.	.	.	0.0152528	397	26028	rs5018688	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.59928	D	0.093	0.43913	T	0.393	0.56973	B	0.383	0.56425	B	0.059846	0.22293	U	0.378995	1	0.08975	N	1.89	0.50145	L	0.58	0.54149	T	-1.28	0.38924	N	0.403	0.45237	-0.9915	0.32218	T	0.137	0.45260	T	10	0.1055212	0.19508	T	0.011092	0.28353	T	0.056	0.15993	0.195	0.10705	0.117506650769	0.11410	0.13308873038305813	0.13232	0.421847818605	0.42694	0.421121031046	0.27990	T	0.02108	0.16480	T	-0.332179	0.05948	T	-0.714929	0.05044	T	0.244155928492546	0.22609	T	0.533147	0.22079	T	0.27807146	0.50863	0.22633299	0.47608	0.27807146	0.50863	0.22633299	0.47607	-4.287	0.28968	T	.	.	0.120	0.24733	B	.;.;.;.;.	.;.;.;.;.	0.299513	0.06751	3.267	0.94323433060273598	0.24650	0.08620	0.14524	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986223079379	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.279	0.14929	0.332000	0.19494	-0.521000	0.08690	0.530000	0.24713	0.996000	0.39380	0.000000	0.08366	0.128000	0.19490	0.5333:0.4667:0.0:0.0	4.875	0.13009	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	7945.13	159	chrX	55146283	.	C	T	7945.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.228;DP=1737;ExcessHet=2.5225;FS=0.585;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=6.06;ReadPosRankSum=-0.29;SOR=0.61	GT:AD:DP:GQ:PL	0/1:355,117:472:99:2557,0,11729	3	0	4	0
chrX	55487291	55487291	G	A	exonic	USP51	.	nonsynonymous SNV	USP51:NM_201286:exon2:c.C1649T:p.T550I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0215375596036	9.5e-05	.	1.182e-05	0.0001	0	0	0	0	0	0	1.29e-05	2	154602	rs373023144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.20154	T	0.456	0.12740	T	0.137	0.27402	B	0.115	0.31843	B	0.000000	0.84330	U	0.000000	1	0.81001	D	0.43	0.12624	N	4.16	0.02791	T	-1.11	0.28703	N	0.457	0.49420	-0.7818	0.56201	T	0.008	0.02679	T	10	0.19919565	0.35919	T	0.021538	0.44322	T	0.169	0.43123	.	.	0.388112687808	0.38423	0.43907990430673405	0.43824	1.69652609271	0.90222	0.836287975311	0.87527	D	0.015261	0.12837	T	-0.154525	0.27606	T	-0.459741	0.26626	T	0.352301388978958	0.27109	T	0.832017	0.49964	T	0.22847258	0.45567	0.2366054	0.48936	0.22847258	0.45567	0.2366054	0.48935	-5.391	0.40833	T	.	.	0.132	0.28550	B	.	.	2.217171	0.28292	17.75	0.97807297973646978	0.36103	0.68788	0.33935	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999999926078	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.03	3.03	0.34070	6.487000	0.73540	3.734000	0.39628	0.584000	0.30380	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	11.283	0.48442	280	0.88949	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2104.44	33	chrX	55487291	.	G	A	2104.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.483;DP=362;ExcessHet=0;FS=1.163;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=1.25;SOR=0.752	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1289	6	0	1	0
chrX	64268644	64268644	A	T	exonic	MTMR8	.	nonsynonymous SNV	MTMR8:NM_017677:exon14:c.T2008A:p.L670M	.	432	1074	10	6	0	22	0.0101382	.	.	.	3199517	MTMR8-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.062	.	0.0027	0.00317881	0.0073	0.0008	0.0016	0	0.0450	0.0081	0.0223	0.0007	0.0063841	987	154602	rs73227152	0.0066	0.0066	0.0067	0.0064	0.0092	0.0065	0.0064	0.0069	0.0061	0.0006	0.0022	0.0255	0	0.0416	0.0092	0.0054	0.0073	0.0010	0.0067	0.0070	0.0060	0.0082	0.0064	0.0063	0.0061	0.0058	0.0056	0.0008	0	0.0038	0.0336	0	0.0402	0	0.0064	0.0053	0.0008	0.539	0.06824	T	0.929	0.02786	T	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	-3.41	0.94306	D	-0.31	0.12099	N	0.027	0.00571	-0.5969	0.64943	T	0.401	0.75230	T	9	0.0030497313	0.00050	T	.	.	.	0.184	0.45763	.	.	0.42805410278	0.42423	0.05561331739455443	0.05502	0.00312709985745	0.00269	0.215447798371	0.01064	T	0.053429	0.29440	T	-0.456827	0.01028	T	-0.426087	0.30380	T	0.00159509457154765	0.00016	T	0.184382	0.01906	T	0.0832997	0.19229	0.07752548	0.17277	0.0832997	0.19229	0.07752548	0.17277	-0.701	0.00722	T	.	.	0.069	0.03093	B	.	.	-0.326677	0.02501	0.295	0.063746761523627196	0.00023	0.00019	0.00214	N	AEFI	.	.	.	.	.	.	.	.	.	3.12205640842283E-5	0.03775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.23	-0.975	0.09764	-0.295000	0.08335	0.384000	0.17813	-0.106000	0.15538	0.000000	0.06391	0.002000	0.18203	0.639000	0.32395	0.1779:0.0:0.3545:0.4676	4.818	0.12742	15	0.98792	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.004129	0.000000	0.007421	0.000000	0.000000	0.011765	0.000000	0.005263	0.1429	834.23	35	chrX	64268644	.	A	T	834.23	.	AC=2;AF=0.143;AN=14;DP=197;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=32.64;SOR=1.292	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1090:.	6	1	0	0
chrX	64268645	64268645	G	T	exonic	MTMR8	.	nonsynonymous SNV	MTMR8:NM_017677:exon14:c.C2007A:p.N669K	.	431	1075	10	6	0	22	0.0101289	.	.	.	3191609	MTMR8-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.024	.	0.0028	0.00317881	0.0073	0.0008	0.0016	0	0.0450	0.0082	0.0223	0.0007	0.0063971	989	154602	rs73227155	0.0066	0.0066	0.0067	0.0064	0.0092	0.0065	0.0064	0.0069	0.0061	0.0006	0.0022	0.0255	0	0.0416	0.0092	0.0054	0.0073	0.0010	0.0066	0.0070	0.0060	0.0082	0.0064	0.0063	0.0061	0.0058	0.0056	0.0007	0	0.0038	0.0335	0	0.0402	0	0.0064	0.0053	0.0008	0.011	0.55530	D	0.025	0.56192	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-3.6	0.95009	D	-0.59	0.17624	N	0.017	0.00226	-0.4904	0.68994	T	0.439	0.77815	T	9	0.0031017065	0.00051	T	.	.	.	0.208	0.49714	0.347	0.34274	0.571172631058	0.56784	0.1427735271031723	0.14200	0.00286345005824	0.00246	0.254795908928	0.04290	T	0.054971	0.29876	T	-0.468898	0.00863	T	-0.443427	0.28424	T	0.0132812019967288	0.00238	T	0.335566	0.07155	T	0.14016235	0.32348	0.14091943	0.33575	0.14016235	0.32348	0.14091943	0.33574	-6.315	0.48840	T	.	.	0.126	0.26638	B	.	.	0.501650	0.08709	5.480	0.94663742180030275	0.25282	0.04650	0.10322	N	AEFI	.	.	.	.	.	.	.	.	.	3.37615442342576E-5	0.03775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.23	-0.974	0.09767	0.154000	0.16160	0.343000	0.17400	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.573000	0.30723	0.3616:0.1786:0.2757:0.1841	0.470	0.00494	15	0.98792	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.004129	0.000000	0.007421	0.000000	0.000000	0.011765	0.000000	0.005263	0.1429	834.23	35	chrX	64268645	.	G	T	834.23	.	AC=2;AF=0.143;AN=14;DP=197;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=31.05;SOR=1.292	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1090:.	6	1	0	0
chrX	67546495	67546497	GTG	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1349_1351del:p.G473del,AR:NM_001348061:exon1:c.1349_1351del:p.G473del,AR:NM_001348063:exon1:c.1349_1351del:p.G473del,AR:NM_001348064:exon1:c.1349_1351del:p.G473del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	3211094	AR-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0035	.	9.791e-05	0	0	0	0	0.0003	0	0	3.84e-05	1	26028	rs752570661	7.257e-06	0.0003	1.02e-05	0	4.884e-05	2.61e-06	1.71e-06	5.3e-07	2e-07	4.884e-05	0	6.268e-05	0	3.114e-05	0	3.158e-06	0	2.717e-05	0	9.776e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	43.45	38	chrX	67546494	.	TGTG	T	43.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.384;DP=165;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.62;ReadPosRankSum=0.975;SOR=0.223	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1221	6	0	1	0
chrX	71100925	71100925	T	C	exonic	FOXO4	.	nonsynonymous SNV	FOXO4:NM_005938:exon2:c.T695C:p.V232A,FOXO4:NM_001170931:exon3:c.T530C:p.V177A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.0253091899793	.	.	0.0002	0	0	0	0	0.0003	0	0	0.0001358	21	154602	rs199927821	3.553e-05	3.551e-05	2.859e-05	4.96e-05	0.0001	2.66e-05	2.336e-05	6.071e-05	4.249e-05	0	0	0	0	0	0	3.207e-05	0.0001	0.0001	2.676e-05	2.611e-05	2.57e-05	2.917e-05	6.486e-05	7.11e-06	2.97e-06	1.074e-05	4.02e-06	6.486e-05	0	0	0	0	0	0	1.881e-05	0	0	0.928	0.02327	T	0.959	0.02917	T	0.0	0.02946	B	0.0	0.01387	B	0.003485	0.00965	N	27.304500	1	0.08975	N	-0.69	0.01958	N	-3.46	0.95458	D	1.26	0.00998	N	0.036	0.01658	-0.0966	0.80176	T	0.681	0.88985	D	10	0.014832288	0.00312	T	0.025309	0.48284	D	0.223	0.52023	0.239	0.17065	0.287411543184	0.28351	0.4419654593261067	0.44113	0.412149464764	0.41964	0.249682813883	0.03735	T	0.33972	0.70884	T	-0.350164	0.04716	T	-0.476334	0.24837	T	0.0164028709060089	0.00407	T	0.293371	0.05395	T	0.025123097	0.01415	0.05011	0.07796	0.025123097	0.01415	0.05011	0.07796	-1.707	0.03230	T	.	.	0.065	0.03661	B	.;.	.;.	-0.013291	0.04192	1.018	0.5319539533865385	0.04892	0.10718	0.16144	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999928012464835	0.46280	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.11	-1.7	0.07721	1.750000	0.37956	0.300000	0.16968	-0.800000	0.03169	0.037000	0.20830	0.000000	0.08366	0.615000	0.31768	0.0:0.2821:0.2262:0.4917	6.234	0.19965	519	0.74455	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	3065.35	33	chrX	71100925	.	T	C	3065.35	.	AC=3;AF=0.214;AN=14;BaseQRankSum=2.15;DP=295;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=19.65;ReadPosRankSum=0.781;SOR=0.648	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1197	5	1	1	0
chrX	72206936	72206936	C	-	exonic	ERCC6L	.	frameshift deletion	ERCC6L:NM_017669:exon2:c.1831delG:p.E611Kfs*14,ERCC6L:NM_001009954:exon3:c.1462delG:p.E488Kfs*14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	40.4	37	chrX	72206935	.	TC	T	40.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.04;ReadPosRankSum=-1.501;SOR=0.368	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	0	1	0
chrX	72609679	72609679	G	C	exonic	PHKA1	.	nonsynonymous SNV	PHKA1:NM_001172436:exon22:c.C2374G:p.Q792E,PHKA1:NM_001122670:exon23:c.C2551G:p.Q851E,PHKA1:NM_002637:exon23:c.C2551G:p.Q851E	Muscle glycogenosis, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.747	0.299097850687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.007	0.69154	D	0.985	0.61118	D	0.903	0.64103	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.445	0.92174	M	-2.98	0.92307	D	-2.68	0.57275	D	0.55	0.59138	0.962	0.96576	D	0.893	0.96465	D	10	0.6087421	0.67324	D	0.299098	0.90822	D	0.747	0.91285	0.607	0.73945	0.920168449814	0.91936	0.8324089067415356	0.83199	1.00788437402	0.74654	0.692946434021	0.66129	T	0.909472	0.98284	D	0.269763	0.80419	D	0.14972	0.80167	D	0.990285694599152	0.80502	D	0.951105	0.81346	D	0.87028307	0.88883	0.87975425	0.93544	0.87028307	0.88884	0.87975425	0.93545	-13.41	0.91825	D	.	.	0.203	0.54696	B	.;.;.;.;.	.;.;.;.;.	4.165302	0.62586	24.5	0.99503393693182141	0.68147	0.97675	0.76331	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999999978651	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.65	5.65	0.86881	9.508000	0.96995	11.483000	0.92898	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	15.893	0.79097	191	0.92559	GH15-like domain;GH15-like domain;.;.;GH15-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	388.49	34	chrX	72609679	.	G	C	388.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.071;DP=276;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.7;ReadPosRankSum=-1.122;SOR=0.688	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1239	6	0	1	0
chrX	74591813	74591813	G	A	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.C1502T:p.S501L,RLIM:NM_183353:exon5:c.C1502T:p.S501L	Mental retardation, X-linked 61, X-linked recessive	9	1490	23	0	0	23	0.00765901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00392722355489	.	.	0.0002	0.0001	0	0	0	0.0002	0	0.0005	3.84e-05	1	26028	rs200629905	9.112e-07	2.732e-06	1.361e-06	0	1.188e-06	0	0	.	.	0	0	0	0	0	0	1.188e-06	0	0	1.841e-05	0.0001	2.588e-05	0	3.351e-05	3.06e-06	1.15e-06	.	.	3.351e-05	0	0	0	0	0	0	1.925e-05	0	0	0.42	0.09836	T	0.382	0.15890	T	0.0	0.02946	B	0.0	0.01387	B	0.264373	0.15251	N	0.666655	0.949983	0.37675	D	0.75	0.19020	N	3.03	0.08898	T	-0.73	0.20576	N	0.123	0.11483	-1.0706	0.09282	T	0.025	0.10598	T	10	0.013200998	0.00281	T	0.003927	0.09274	T	0.132	0.35948	.	.	0.474660930215	0.47096	0.4159198749435835	0.41507	0.659223824986	0.58794	0.605702996254	0.53710	T	0.099372	0.40412	T	-0.300593	0.08604	T	-0.669557	0.07637	T	0.123469986021519	0.14766	T	0.649135	0.25986	T	0.103400156	0.24439	0.122803114	0.29618	0.103400156	0.24438	0.122803114	0.29617	-7.457	0.57308	T	0.06091627704634275	0.01704	0.072	0.04198	B	.;.	.;.	1.715856	0.21849	15.37	0.81488155183217736	0.13710	0.91941	0.54595	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999021295674977	0.38237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.41	4.55	0.55429	2.957000	0.48830	4.344000	0.43067	-0.113000	0.14837	0.998000	0.41325	1.000000	0.68203	0.948000	0.49324	0.0772:0.0:0.9228:0.0	13.469	0.60726	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.035865	0.095238	0.024119	0.019763	0.071429	0.035294	0.044248	0.026316	0.1667	477.79	95	chrX	74591813	.	G	A	477.79	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.651;DP=333;ExcessHet=0.4139;FS=2.098;MLEAC=2;MLEAF=0.167;MQ=57.32;MQRankSum=-7.173;QD=3.54;ReadPosRankSum=-1.173;SOR=1.059	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	4	0	2	1
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P,RLIM:NM_183353:exon5:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	9	1217	293	0	3	296	0.107444	.	.	.	706313	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	.	.	0.0029	0.0116	0.0005	0	0.0003	0.0029	0	0.0019	0.0113453	1754	154602	rs201164156	0.0008	0.0027	0.0011	0	0.0013	0.0007	0.0007	0.0009	0.0008	0.0013	0.0003	0.0003	0.0002	0.0021	0.0008	0.0008	0.0009	0.0001	0.0005	0.0047	0.0008	0	0.0009	0.0004	0.0004	0.0004	0.0003	0.0006	0	0.0005	0.0004	0.0009	0.0005	0	0.0005	0.0007	0.0004	0.21	0.19639	T	0.328	0.18675	T	0.842	0.46562	P	0.1	0.30674	B	0.514165	0.11812	U	0.638142	1	0.08975	N	1.7	0.43825	L	-1.96	0.85091	D	-0.25	0.11008	N	0.207	0.22998	-0.7951	0.55432	T	0.216	0.57836	T	10	0.006244242	0.00141	T	.	.	.	0.240	0.54500	.	.	.	.	0.4665592874844735	0.46574	0.934645105114	0.71975	0.607906699181	0.54020	T	0.132362	0.46240	T	-0.0295646	0.47480	T	-0.280244	0.46779	T	0.0105822094544231	0.00148	T	0.430157	0.11673	T	0.09892091	0.23338	0.13853694	0.33082	0.09892091	0.23338	0.13853694	0.33082	-7.284	0.56081	T	0.3542269034747019	0.45119	0.098	0.16231	B	.;.	.;.	0.643466	0.10120	6.865	0.20867452940731573	0.00770	0.09317	0.15097	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.920848692020125	0.26649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66	0.088	0.13764	0.990000	0.29242	2.406000	0.32617	0.756000	0.94297	0.212000	0.24446	0.201000	0.23571	0.004000	0.06068	0.5962:0.4038:0.0:0.0	3.724	0.07997	99	0.95913	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.100000	0.136054	0.068646	0.102767	0.071429	0.058824	0.132743	0.089474	0.2857	3271.13	272	chrX	74591904	.	A	G	3271.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.883;DP=749;ExcessHet=2.5225;FS=3.458;MLEAC=4;MLEAF=0.286;MQ=57.99;MQRankSum=-11.57;QD=5.1;ReadPosRankSum=4.34;SOR=0.404	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	3	0	4	0
chrX	74591957	74591957	C	T	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.G1358A:p.S453N,RLIM:NM_183353:exon5:c.G1358A:p.S453N	Mental retardation, X-linked 61, X-linked recessive	10	1315	197	0	0	197	0.0696852	.	.	.	2752745	Intellectual_disability,_X-linked_61	MONDO:MONDO:0010506,MedGen:C4283894,OMIM:300978	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.158	0.22060859109	.	.	0	0	0	0	0	0	0	0	7.68e-05	2	26028	rs201787580	2.754e-06	0.0004	4.09e-06	0	3.589e-06	7.3e-07	2e-07	9.6e-07	2.7e-07	0	0	0	0	0	0	3.589e-06	0	0	2.789e-05	0.0021	3.904e-05	0	9.85e-05	7.41e-06	3.06e-06	6.46e-06	2.42e-06	0	0	9.85e-05	0	0	0	0	3.895e-05	0	0	0.257	0.16738	T	0.499	0.11227	T	0.0	0.02946	B	0.0	0.01387	B	0.016982	0.27835	N	0.389770	1	0.08975	N	0.685	0.16464	N	-1.6	0.82165	D	-0.42	0.14193	N	0.236	0.26596	-0.8724	0.50349	T	0.310	0.68066	T	10	0.122223884	0.23183	T	0.220609	0.87766	D	0.158	0.41098	.	.	0.557858568325	0.55445	0.312164728673577	0.31129	0.692380051853	0.60661	0.502812802792	0.39220	T	0.172441	0.52093	T	-0.174656	0.24534	T	-0.488658	0.23531	T	0.0512267297337718	0.05713	T	0.508649	0.16166	T	0.07587642	0.17124	0.10946825	0.26384	0.07587642	0.17124	0.10946825	0.26384	-6.705	0.51848	T	.	.	0.087	0.11606	B	.;.	.;.	0.832856	0.12043	8.599	0.64009249238066646	0.07376	0.44947	0.27430	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.995911489112744	0.34405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.98	4.1	0.47196	0.741000	0.25870	0.022000	0.13604	0.599000	0.40250	0.101000	0.22814	0.000000	0.08366	0.960000	0.51673	0.0:0.8818:0.0:0.1182	7.602	0.27251	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.004828	0.013605	0.001855	0.007905	0.000000	0.000000	0.008850	0.000000	0.1429	1814.34	40	chrX	74591957	.	C	T	1814.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.454;DP=573;ExcessHet=0.3476;FS=9.041;MLEAC=2;MLEAF=0.143;MQ=58.48;MQRankSum=-12.07;QD=4.44;ReadPosRankSum=-3.523;SOR=1.2	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	5	0	2	0
chrX	74743221	74743221	T	C	exonic	NEXMIF	.	nonsynonymous SNV	NEXMIF:NM_001008537:exon3:c.A1336G:p.I446V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.0118661001055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.21801	T	0.107	0.37730	T	0.114	0.26387	B	0.078	0.28627	B	0.000004	0.62929	D	0.104597	0.918498	0.27348	N	.	.	.	1.52	0.30669	T	0.0	0.07008	N	0.057	0.10198	-1.0511	0.14092	T	0.056	0.23677	T	10	0.1483576	0.28096	T	0.011866	0.29919	T	0.053	0.14996	0.08	0.00663	0.244449712813	0.24043	0.12081347814108552	0.12008	0.211808157918	0.23679	0.31494551897	0.12655	T	0.029997	0.21364	T	-0.381165	0.03064	T	-0.785294	0.02297	T	0.528068602085114	0.33663	D	0.809419	0.45992	T	0.22738063	0.45437	0.14222668	0.33842	0.22738063	0.45437	0.14222668	0.33841	-3.067	0.10920	T	.	.	0.084	0.09917	B	.;.;.	.;.;.	2.095120	0.26650	17.19	0.98271068378892468	0.39759	0.98243	0.80867	D	AEFBI	.	.	.	.	.	.	.	.	.	0.479023360439851	0.20770	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.03	4.84	0.62125	4.827000	0.62413	2.915000	0.35530	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.1378:0.8621	12.466	0.55101	104	0.95701	Domain of unknown function DUF4683;Domain of unknown function DUF4683;Domain of unknown function DUF4683	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2801.45	38	chrX	74743221	.	T	C	2801.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.473;DP=393;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=1.83;SOR=0.662	GT:AD:DP:GQ:PL	0/1:79,113:192:99:2812,0,1895	6	0	1	0
chrX	83873874	83873874	A	G	exonic	CYLC1	.	nonsynonymous SNV	CYLC1:NM_021118:exon4:c.A1166G:p.K389R	.	438	1081	2	1	0	4	0.00184672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	.	0.00450331	0.0032	0	0.0001	0	0	0	0	0.0264	0.0024579	380	154602	rs763345763	0.0010	0.0010	0.0006	0.0018	0.0195	0.0010	0.0009	0.0185	0.0181	0	0	0	6.769e-05	0	0.0007	7.22e-06	0.0011	0.0195	0.0005	0.0006	0.0003	0.0010	0.0213	0.0004	0.0004	0.0168	0.0152	3.261e-05	0	0	0	0	0	0	3.804e-05	0	0.0213	0.0	0.91255	D	0.015	0.61642	D	0.844	0.46645	P	0.64	0.52082	P	.	.	.	.	1	0.08975	N	2.545	0.74286	M	1.59	0.28836	T	-1.74	0.41239	N	0.018	0.00252	-1.0598	0.11805	T	0.083	0.32499	T	9	0.0034106076	0.00060	T	.	.	.	0.039	0.10176	.	.	0.21174354426	0.20776	3.425407112403287E-4	0.00031	0.00234716027903	0.00204	0.393551528454	0.24168	T	0.06926	0.33665	T	-0.704901	0.00034	T	-0.769722	0.02777	T	0.117454477888754	0.14178	T	0.466353	0.13696	T	0.13992241	0.32303	0.24084759	0.49468	0.13992241	0.32302	0.24084759	0.49467	-6.816	0.52678	T	.	.	0.123	0.25914	B	.	.	1.742320	0.22170	15.51	0.93792676911254225	0.23757	0.15898	0.19134	N	AEFI	.	.	.	.	.	.	.	.	.	2.55326433640276E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.29	2.05	0.25860	1.080000	0.30390	1.168000	0.24603	0.756000	0.94297	0.062000	0.21832	0.065000	0.22112	0.011000	0.09372	0.8499:0.0:0.1501:0.0	4.857	0.12927	620	0.66037	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.002079	0.000000	0.000000	0.003984	0.000000	0.000000	0.000000	0.010526	0.07143	914.53	37	chrX	83873874	.	A	G	914.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.597;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-2.31;SOR=0.65	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1043	6	0	1	0
chrX	85108127	85108127	G	T	exonic	SATL1	.	nonsynonymous SNV	SATL1:NM_001012980:exon1:c.C842A:p.A281E,SATL1:NM_001367857:exon3:c.C842A:p.A281E,SATL1:NM_001367858:exon7:c.C842A:p.A281E	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00211611155476	.	.	5.697e-05	0	0	0	0	0	0	0.0005	3.84e-05	1	26028	rs781018781	1.821e-05	1.821e-05	1.089e-05	3.302e-05	0.0004	1.189e-05	9.67e-06	0.0002	0.0002	0	0	0	0	0	0	0	0	0.0004	2.686e-05	2.612e-05	0	8.857e-05	0.0011	7.14e-06	2.98e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0011	0.191	0.21066	T	0.326	0.19304	T	0.067	0.23653	B	0.018	0.18489	B	0.514862	0.05168	N	1.430080	1	0.08975	N	1.59	0.40313	L	0.94	0.43672	T	-0.78	0.40660	N	0.026	0.06190	-1.0498	0.14453	T	0.061	0.25528	T	10	0.03330058	0.01502	T	0.002116	0.03908	T	0.049	0.13647	0.221	0.14371	0.32580497728	0.32196	0.14964167906036815	0.14886	0.132609855297	0.14944	0.174667343497	0.00055	T	0.00692	0.06344	T	-0.631615	0.00093	T	-0.841919	0.01070	T	0.0280016162343583	0.01689	T	0.345765	0.07588	T	0.09307618	0.21852	0.14792262	0.34987	0.09307618	0.21852	0.14792262	0.34986	.	.	.	.	.	0.142	0.36633	B	.;.;.;.;.	.;.;.;.;.	0.444834	0.08149	4.882	0.32656806627588253	0.01904	0.05201	0.11025	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.995869170297839	0.34373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.7	-4.28	0.03475	-1.316000	0.02818	-3.279000	0.02911	-0.260000	0.06918	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2153:0.2771:0.363:0.1446	1.525	0.02371	889	0.27310	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	6916.22	39	chrX	85108127	.	G	T	6916.22	.	AC=2;AF=0.143;AN=14;DP=351;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=59.7;QD=28.69;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1151:.	6	1	0	0
chrX	100914708	100914708	C	T	exonic	XKRX	.	stopgain	XKRX:NM_212559:exon3:c.G980A:p.W327X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.14e-05	0	0	0	0	0	0	9.885e-05	1.29e-05	2	154602	rs746362606	9.106e-07	9.105e-07	0	2.75e-06	1.847e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.245	0.27673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517502	0.94815	D	0.655873	0.98747	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.257174	0.97352	37	0.99677638716432504	0.79043	0.97656	0.76199	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999995634	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.74	5.74	0.90070	5.832000	0.69048	7.705000	0.66497	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.890	0.92368	25	0.98345	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	67.44	36	chrX	100914708	.	C	T	67.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.465;DP=220;ExcessHet=0;FS=3.68;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=-2.189;SOR=0.061	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	6	0	1	0
chrX	103377642	103377642	A	G	exonic	BEX3	.	nonsynonymous SNV	BEX3:NM_014380:exon1:c.A151G:p.I51V,BEX3:NM_001282674:exon2:c.A391G:p.I131V,BEX3:NM_206915:exon3:c.A151G:p.I51V,BEX3:NM_206917:exon3:c.A121G:p.I41V	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00195605951918	.	.	0.0001	0	0.0001	0	0	2.084e-05	0	0.0008	0.0001294	20	154602	rs745396814	7.922e-05	7.922e-05	4.492e-05	0.0001	0.0024	6.578e-05	6.07e-05	0.0013	0.0010	0	2.84e-05	0	0	0	0.0024	2.612e-05	0.0002	0.0008	7.184e-05	7.827e-05	6.425e-05	8.943e-05	0.0004	3.483e-05	2.526e-05	4.854e-05	3.36e-05	0	0	0	0	0	0	0	0.0001	0.0007	0.0004	0.179	0.22053	T	0.368	0.16570	T	0.0	0.02946	B	0.001	0.04355	B	0.948521	0.08303	N	0.970697	0.988204	0.24436	N	0.915	0.23335	L	2.61	0.13095	T	-0.57	0.17210	N	0.035	0.04913	-0.9569	0.39753	T	0.017	0.06807	T	10	0.07716495	0.12144	T	0.001956	0.03482	T	0.092	0.26621	0.775	0.90080	0.398872588132	0.39498	0.21236768067108344	0.21152	1.69678653919	0.90229	0.648869276047	0.59826	T	0.099054	0.40348	T	-0.668085	0.00056	T	-0.829842	0.01265	T	0.0279167877530107	0.01676	T	0.683132	0.29138	T	0.10181103	0.24051	0.1062371	0.25552	0.10181103	0.24050	0.1062371	0.25552	-2.929	0.10932	T	.	.	0.127	0.30397	B	.;.;.;.	.;.;.;.	2.187689	0.27889	17.61	0.99618640150239324	0.75293	0.32026	0.24484	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999997632500336	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.82	2.65	0.30588	1.194000	0.31783	1.640000	0.27787	0.751000	0.87719	1.000000	0.71638	0.041000	0.21590	1.000000	0.97212	0.86:0.0:0.14:0.0	4.951	0.13363	245	0.90404	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.005263	0.07143	2455.44	34	chrX	103377642	.	A	G	2455.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.595;DP=405;ExcessHet=0;FS=1.683;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-0.501;SOR=0.562	GT:AD:DP:GQ:PL	0/1:116,100:216:99:2466,0,3148	6	0	1	0
chrX	104250581	104250581	G	A	exonic	ESX1	.	nonsynonymous SNV	ESX1:NM_153448:exon4:c.C868T:p.R290C	.	435	1082	2	2	1	7	0.00276498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00698028615383	0.0008	0.000264901	0.0011	0.0001	0.0011	0	0.0005	0.0016	0.0040	0	0.0001811	28	154602	rs148783552	0.0017	0.0017	0.0018	0.0016	0.0037	0.0017	0.0016	0.0022	0.0020	0.0002	0.0007	0	0.0002	0.0001	0.0037	0.0021	0.0016	0.0002	0.0011	0.0012	0.0013	0.0007	0.0021	0.0010	0.0009	0.0018	0.0017	0.0002	0	0.0008	0	0	0.0002	0	0.0021	0	0	0.022	0.48642	D	0.195	0.28032	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.255	0.09829	N	0.38	0.57575	T	-0.56	0.17003	N	0.07	0.04307	-1.0344	0.19046	T	0.083	0.32642	T	9	0.005555272	0.00123	T	0.00698	0.18485	T	0.075	0.21907	.	.	0.123314135267	0.11883	0.2551393431761894	0.25427	0.552616846594	0.52065	0.473611652851	0.35178	T	0.095616	0.39657	T	-0.711271	0.00031	T	-0.797833	0.01958	T	0.00568925470463763	0.00062	T	0.723028	0.33655	T	0.069120474	0.15115	0.06331646	0.12524	0.069120474	0.15115	0.06331646	0.12523	-7.077	0.54595	T	.	.	0.143	0.31355	B	.	.	0.444390	0.08144	4.877	0.75917921808809885	0.11262	0.01091	0.04015	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.0250215685659538	0.13619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.47	0.14	0.14101	-2.681000	0.00909	-0.714000	0.07736	-1.576000	0.00927	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1523:0.0:0.6247:0.223	4.152	0.09708	478	0.77585	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.004861	0.006897	0.001855	0.003953	0.142857	0.011765	0.000000	0.005291	0.07143	903.63	35	chrX	104250581	.	G	A	903.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.05;DP=232;ExcessHet=0;FS=6.845;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=0.367;SOR=1.555	GT:AD:DP:GQ:PL	0/1:37,32:69:99:914,0,855	6	0	1	0
chrX	104252795	104252795	T	-	exonic	ESX1	.	frameshift deletion	ESX1:NM_153448:exon3:c.540delA:p.D181Tfs*21	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	52.4	33	chrX	104252794	.	CT	C	52.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=202;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1319	6	0	1	0
chrX	105923419	105923419	A	G	exonic	NRK	.	nonsynonymous SNV	NRK:NM_198465:exon18:c.A2912G:p.D971G	.	436	1073	8	5	0	18	0.00831793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	.	0.0029	0.00264901	0.0044	0	0	0	0.0048	0.0062	0.0119	0.0033	0.0014489	224	154602	rs35334892	0.0048	0.0046	0.0048	0.0048	0.0085	0.0047	0.0047	0.0063	0.0055	0.0005	0.0016	0.0066	3.7e-05	0.0036	0.0085	0.0054	0.0051	0.0016	0.0031	0.0031	0.0031	0.0030	0.0049	0.0028	0.0027	0.0044	0.0042	0.0005	0	0.0013	0.0061	0	0.0037	0.0093	0.0049	0.0026	0.0034	0.094	0.31383	T	0.379	0.16037	T	0.0	0.02946	B	0.0	0.01387	B	0.586686	0.05567	N	1.265960	1	0.08975	N	0.805	0.20218	L	-1.08	0.77078	T	0.66	0.02297	N	0.032	0.00825	-1.0210	0.23389	T	0.183	0.53148	T	10	0.00446856	0.00092	T	.	.	.	0.124	0.34239	.	.	0.447408163157	0.44359	0.10678850580227389	0.10608	.	.	0.311387300491	0.12117	T	0.125594	0.45140	T	-0.591549	0.00164	T	-0.617931	0.11348	T	0.00342538533581835	0.00036	T	0.50065	0.15660	T	0.05652215	0.11132	0.085507974	0.19747	0.05652215	0.11131	0.085507974	0.19746	-4.39	0.29421	T	.	.	0.087	0.11414	B	.	.	0.296347	0.06725	3.233	0.7773954620421818	0.12002	0.02831	0.07574	N	AEFBI	.	.	.	.	.	.	.	.	.	3.11172433138212E-4	0.06498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.06	-2.74	0.05582	-0.125000	0.10555	0.151000	0.15292	0.754000	0.88378	0.001000	0.13787	0.000000	0.08366	0.422000	0.27272	0.3433:0.1993:0.2602:0.1972	0.312	0.00269	35	0.98078	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.005771	0.006897	0.002488	0.012876	0.000000	0.000000	0.010000	0.000000	0.07143	1741.44	33	chrX	105923419	.	A	G	1741.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.059;DP=316;ExcessHet=0;FS=0.668;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=1.54;SOR=0.814	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,1189	6	0	1	0
chrX	107981733	107981733	G	C	exonic	TEX13B	.	nonsynonymous SNV	TEX13B:NM_031273:exon2:c.C395G:p.T132S	.	426	1040	29	27	0	83	0.0383726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0041	0.00715232	0.0107	0.0017	0.0012	0.0002	0.0208	0.0093	0.0230	0.0409	0.0098964	1530	154602	rs144538520	0.0074	0.0074	0.0067	0.0090	0.0357	0.0073	0.0072	0.0343	0.0338	0.0008	0.0011	0.0011	6.626e-05	0.0207	0.0136	0.0059	0.0069	0.0357	0.0059	0.0060	0.0054	0.0071	0.0334	0.0055	0.0054	0.0277	0.0256	0.0008	0	0.0027	0.0008	0.0003	0.0220	0.0183	0.0070	0.0046	0.0334	0.055	0.38407	T	0.072	0.43344	T	0.473	0.36591	P	0.19	0.36341	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	.	.	.	-1.94	0.45042	N	0.064	0.03613	-1.0435	0.16265	T	0.038	0.16505	T	8	0.0036247373	0.00066	T	.	.	.	0.034	0.08419	0.141	0.04462	.	.	0.05130291475236664	0.05072	0.454918704517	0.45175	0.351358294487	0.18122	T	0.014065	0.12045	T	-0.758781	0.00015	T	-0.836951	0.01145	T	0.004441021523127	0.00047	T	0.354465	0.08000	T	0.07995067	0.18293	0.07362963	0.16021	0.07995067	0.18293	0.07362963	0.16021	-6.018	0.46431	T	.	.	0.203	0.42720	B	.	.	-0.130754	0.03462	0.642	0.62979613999287676	0.07103	0.05061	0.10852	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00245125484351227	0.09445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.89	0.013	0.13417	0.707000	0.25379	-0.649000	0.08038	-0.139000	0.12461	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.3637:0.0:0.4321:0.2042	2.812	0.05111	18	0.98631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011042	0.000000	0.007421	0.015810	0.000000	0.000000	0.004425	0.036842	0.07143	107.44	34	chrX	107981733	.	G	C	107.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=237;ExcessHet=0;FS=3.31;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.91;ReadPosRankSum=0.842;SOR=0.105	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1238	6	0	1	0
chrX	108205691	108205691	G	A	exonic	COL4A6	.	nonsynonymous SNV	COL4A6:NM_001287758:exon10:c.C614T:p.P205L,COL4A6:NM_001287759:exon10:c.C614T:p.P205L,COL4A6:NM_001287760:exon10:c.C614T:p.P205L,COL4A6:NM_001847:exon10:c.C617T:p.P206L,COL4A6:NM_033641:exon10:c.C614T:p.P205L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.383	0.113008787574	.	.	2.325e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs756956046	3.661e-06	3.642e-06	1.363e-06	8.359e-06	5.619e-05	8.6e-07	5.8e-07	1.491e-05	8.13e-06	0	0	0	0	0	0	1.192e-06	0	5.619e-05	9.014e-06	8.711e-06	0	3.016e-05	0.0004	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.443	0.18184	T	0.086	0.41742	T	0.002	0.09854	B	0.004	0.12992	B	.	.	.	.	0.99862	0.81001	D	1.835	0.48228	L	-4.09	0.96627	D	-5.02	0.84742	D	0.369	0.42443	-0.0051	0.82151	T	0.717	0.90305	D	9	0.15357217	0.28985	T	0.113009	0.79136	D	0.383	0.70029	0.38	0.39645	0.639041112121	0.63606	0.25289838273797527	0.25203	0.183091307075	0.20593	0.438280373812	0.30342	T	0.784974	0.94358	D	-0.043984	0.45355	T	-0.0856215	0.64489	T	0.119827660451313	0.14413	T	0.718628	0.33902	T	0.12769578	0.29875	0.31535402	0.57522	0.12769578	0.29874	0.31535402	0.57521	-4.638	0.32732	T	.	.	0.063	0.02639	B	.;.;.;.;.;.	.;.;.;.;.;.	1.777403	0.22601	15.69	0.82375005826246361	0.14159	0.79144	0.39163	D	AEFBI	.	.	.	.	.	.	.	.	.	0.313626820070507	0.19313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.01	3.24	0.36257	2.036000	0.40786	4.395000	0.43227	-0.127000	0.13314	1.000000	0.71638	1.000000	0.68203	0.921000	0.45669	0.2116:0.0:0.7884:0.0	7.447	0.26388	113	0.95418	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	31.57	16	chrX	108205691	.	G	A	31.57	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.005;DP=95;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.97;ReadPosRankSum=-2.145;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:26,0:26:60:.:.:0,60,900:.	6	0	1	0
chrX	110792163	110792163	T	C	exonic	CHRDL1	.	nonsynonymous SNV	CHRDL1:NM_001143981:exon2:c.A19G:p.M7V,CHRDL1:NM_001143982:exon2:c.A19G:p.M7V,CHRDL1:NM_001143983:exon2:c.A19G:p.M7V,CHRDL1:NM_001367204:exon2:c.A19G:p.M7V,CHRDL1:NM_001367205:exon2:c.A19G:p.M7V,CHRDL1:NM_001367206:exon2:c.A19G:p.M7V,CHRDL1:NM_001367207:exon2:c.A19G:p.M7V,CHRDL1:NM_001367208:exon2:c.A19G:p.M7V,CHRDL1:NM_001367209:exon2:c.A19G:p.M7V,CHRDL1:NM_145234:exon2:c.A19G:p.M7V	Megalocornea 1, X-linked, X-linked recessive	4	1513	2	3	0	8	0.00263678	.	.	.	773703	not_provided|CHRDL1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.096	0.0222468725386	0.0003	0.000264901	0.0004	0.0001	0.0001	0	0	0.0001	0	0.0031	0.0003946	61	154602	rs147128392	0.0002	0.0002	0.0002	0.0003	0.0023	0.0002	0.0002	0.0020	0.0018	0	0.0002	0.0006	0	0	0.0017	7.121e-05	0.0004	0.0023	0.0001	0.0002	0.0001	0.0002	0.0011	8.911e-05	7.2e-05	0.0003	0.0002	3.229e-05	0	0.0004	0.0008	0	0	0	9.384e-05	0.0007	0.0011	0.062	0.91255	T	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	0.883422	0.08739	N	0.954806	0.999999	0.21886	N	.	.	.	2.33	0.27822	T	0.43	0.09135	N	0.107	0.26837	-0.9884	0.33002	T	0.040	0.17063	T	8	0.014844358	0.00312	T	0.022247	0.45119	T	0.096	0.27654	.	.	0.484913652648	0.48122	0.687309823735441	0.68670	0.346268775609	0.36533	0.335800886154	0.15808	T	0.077349	0.35633	T	-0.61122	0.00124	T	-0.656609	0.08497	T	0.0210259607433748	0.00803	T	0.9	0.65058	D	0.13334079	0.31017	0.24628694	0.50134	0.13334079	0.31017	0.24628694	0.50133	-6.24	0.48245	T	.	.	0.069	0.05360	B	.;.;.;.;.	.;.;.;.;.	1.340075	0.17462	13.18	0.95343713143290687	0.26720	0.58672	0.30705	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.674537364194674	0.22411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.19	1.23	0.20358	0.971000	0.28993	3.066000	0.36180	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.3021:0.1798:0.0:0.5181	3.110	0.05971	611	0.66908	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.001377	0.000000	0.000000	0.003968	0.000000	0.000000	0.000000	0.005263	0.07143	1586.46	34	chrX	110792163	.	T	C	1586.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.135;DP=314;ExcessHet=0;FS=1.288;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.253;SOR=0.588	GT:AD:DP:GQ:PL	0/1:71,75:146:99:1597,0,1571	6	0	1	0
chrX	115190343	115190343	G	A	exonic	RBMXL3	.	nonsynonymous SNV	RBMXL3:NM_001145346:exon1:c.G902A:p.R301Q	.	436	1072	8	6	0	20	0.00924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.00555910250286	.	0.000529801	0.0017	0	0	0	0	0.0004	0	0.0081	0.0003493	54	154602	rs782148400	0.0006	0.0006	0.0005	0.0008	0.0058	0.0006	0.0005	0.0053	0.0051	4.057e-05	3.71e-05	0	0	0	0.0030	0.0004	0.0006	0.0058	0.0003	0.0003	0.0003	0.0004	0.0034	0.0003	0.0002	0.0017	0.0013	6.425e-05	0	0.0003	0	0	0	0.0092	0.0004	0.0007	0.0034	0.001	0.78490	D	0.009	0.66756	D	0.961	0.55431	D	0.056	0.26147	B	.	.	.	.	0.999993	0.58761	D	0.345	0.11182	N	3.31	0.06291	T	-2.14	0.48523	N	0.08	0.05542	-0.9108	0.46756	T	0.011	0.04088	T	8	0.0052516162	0.00115	T	0.005559	0.14349	T	0.127	0.34888	.	.	0.0806252709748	0.07271	0.02179087180370503	0.02131	.	.	0.323629528284	0.13971	T	0.219223	0.58217	T	-0.691757	0.00041	T	-0.763826	0.02977	T	0.122868388725934	0.14708	T	0.651035	0.26183	T	0.1228379	0.28857	0.21272378	0.45753	0.1228379	0.28857	0.21272378	0.45752	-4.448	0.30203	T	.	.	0.196	0.41753	B	.	.	2.253689	0.28792	17.91	0.97920023763002328	0.36879	0.33780	0.24911	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.390695504827626	0.20044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.869	0.869	0.18233	3.148000	0.50343	3.062000	0.36164	-0.574000	0.04772	1.000000	0.71638	0.214000	0.23665	0.005000	0.06747	.	.	.	937	0.14592	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.001160	0.000000	0.000000	0.000000	0.000000	0.031250	0.000000	0.000000	0.07143	2191.83	34	chrX	115190343	.	G	A	2191.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.83;DP=369;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=0.886;SOR=0.734	GT:AD:DP:GQ:PL	0/1:82,98:180:99:2202,0,1784	6	0	1	0
chrX	115190598	115190598	A	G	exonic	RBMXL3	.	nonsynonymous SNV	RBMXL3:NM_001145346:exon1:c.A1157G:p.E386G	.	444	1076	1	1	0	3	0.00139211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00118084413489	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1009145759	0.0004	0.0001	0.0003	0.0004	0.0015	0.0003	0.0003	0.0004	0.0003	0	0.0009	0	0	0	0.0015	0.0005	0.0003	0	0.0001	0.0007	0.0002	0	0.0005	0	0	.	.	0	0	0	0	0	0	0	0.0005	0	0	0.003	0.68238	D	0.365	0.16717	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.41	0.05574	T	0.36	0.03700	N	0.025	0.00485	-0.9474	0.41414	T	0.009	0.03227	T	9	0.0050412714	0.00109	T	0.001181	0.01509	T	0.033	0.08068	.	.	0.0138822411134	0.00435	0.005658407892697642	0.00535	.	.	0.350022852421	0.17925	T	0.002019	0.01432	T	-0.867357	0.00001	T	-1.00928	0.00122	T	0.0213141498442687	0.00833	T	0.264874	0.04312	T	0.0417875	0.06218	0.09241375	0.21777	0.0417875	0.06218	0.09241375	0.21776	-0.21	0.00432	T	.	.	0.119	0.24329	B	.	.	0.279153	0.06563	3.049	0.95804363132173043	0.27867	0.00127	0.00790	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.354709594163832	0.19718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.341	-0.683	0.10765	-0.919000	0.04125	1.191000	0.24766	-0.767000	0.03477	0.006000	0.17386	0.003000	0.18671	0.000000	0.00833	0.6726:0.0:0.3274:0.0	3.836	0.08407	937	0.14592	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	2012.05	109	chrX	115190598	.	A	G	2012.05	.	AC=2;AF=0.333;AN=6;DP=521;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.5;MQ=60;QD=33.94;SOR=0.929	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:129,0:129:0:.:.:0,0,2498:.	2	1	0	4
chrX	115190599	115190599	A	C	exonic	RBMXL3	.	nonsynonymous SNV	RBMXL3:NM_001145346:exon1:c.A1158C:p.E386D	.	445	1075	1	1	0	3	0.0013934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00106235134493	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1038984890	0.0004	0.0001	0.0003	0.0004	0.0015	0.0003	0.0003	0.0004	0.0003	0	0.0009	0	0	0	0.0015	0.0005	0.0003	0	0.0001	9.519e-05	0.0002	0	0.0008	0	0	.	.	0	0	0	0	0	0	0	0.0008	0	0	0.006	0.61437	D	0.599	0.07972	T	0.618	0.39878	P	0.063	0.27082	B	.	.	.	.	0.999998	0.08975	N	0.345	0.11182	N	3.48	0.05130	T	-0.04	0.07590	N	0.051	0.02272	-0.9416	0.42362	T	0.007	0.02598	T	9	0.0050660074	0.00109	T	0.001062	0.01215	T	0.044	0.11924	0.221	0.14371	0.0401082797425	0.02173	0.0037767337436312065	0.00353	.	.	0.376130789518	0.21707	T	0.002019	0.01432	T	-0.813103	0.00006	T	-0.928419	0.00339	T	0.0247411629427649	0.01239	T	0.306169	0.05876	T	0.09728689	0.22930	0.110249266	0.26582	0.09728689	0.22930	0.110249266	0.26581	-3.935	0.22828	T	.	.	0.210	0.43815	B	.	.	0.567978	0.09367	6.146	0.97724384594398994	0.35579	0.01863	0.05749	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.449734049446766	0.20529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.341	0.341	0.15229	0.164000	0.16359	-0.522000	0.08684	-0.489000	0.05048	0.006000	0.17386	0.000000	0.08366	0.000000	0.00833	0.9998:0.0:2.0E-4:0.0	5.005	0.13626	937	0.14592	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	2012.07	109	chrX	115190599	.	A	C	2012.07	.	AC=2;AF=0.333;AN=6;DP=520;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.5;MQ=60;QD=28.06;SOR=0.929	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:129,0:129:0:.:.:0,0,2498:.	2	1	0	4
chrX	115306666	115306686	CACTCAGAGAGATCTCATAGT	-	exonic	LUZP4	.	nonframeshift deletion	LUZP4:NM_001318840:exon3:c.558_578del:p.I192_L198del,LUZP4:NM_016383:exon4:c.804_824del:p.I274_L280del	.	442	1078	0	2	0	4	0.00185185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0112	.	0.0008	0.0022	0.0005	0	0.0002	0.0007	0.0032	0.0010	.	.	.	rs781838275	0.0008	0.0008	0.0007	0.0008	0.0047	0.0007	0.0007	0.0031	0.0026	0.0024	0.0010	5.185e-05	0	0.0003	0.0047	0.0007	0.0014	0.0014	0.0012	0.0013	0.0013	0.0007	0.0023	0.0010	0.0009	0.0019	0.0017	0.0023	0	0.0012	0	0.0003	0.0005	0.0051	0.0006	0.0048	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	566.23	33	chrX	115306665	.	CCACTCAGAGAGATCTCATAGT	C	566.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.09;DP=206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.16;ReadPosRankSum=-1.749;SOR=0.836	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	5	0	1	1
chrX	118392690	118392690	T	G	exonic	WDR44	.	nonsynonymous SNV	WDR44:NM_001184966:exon3:c.T170G:p.L57W,WDR44:NM_001184965:exon4:c.T245G:p.L82W,WDR44:NM_019045:exon4:c.T245G:p.L82W	.	435	1086	1	0	0	1	0.000460193	.	.	.	3933232	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.216	0.123906867387	.	.	1.153e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs768336272	7.292e-06	7.284e-06	6.806e-06	8.277e-06	7.414e-05	3.14e-06	2.27e-06	2.529e-05	1.465e-05	0	0	0	0	0	0	2.377e-06	4.344e-05	7.414e-05	1.786e-05	1.739e-05	1.285e-05	2.926e-05	0.0004	2.97e-06	1.11e-06	.	.	0	0	9.521e-05	0	0	0	0	0	0	0.0004	0.037	0.43708	D	0.063	0.45110	T	0.981	0.59675	D	0.645	0.52270	P	0.024195	0.26306	N	0.348037	0.659577	0.30461	N	1.795	0.47270	L	-1.07	0.76948	T	-1.99	0.45949	N	0.541	0.56833	-0.4021	0.71960	T	0.327	0.69564	T	10	0.14754722	0.27956	T	0.123907	0.80516	D	0.216	0.50959	0.137	0.04097	0.430026717358	0.42623	0.2566185863851346	0.25575	0.778151250384	0.65137	0.357324570417	0.18995	T	0.240414	0.60874	T	-0.141087	0.29717	T	-0.284072	0.46386	T	0.440134386562264	0.30434	T	0.827217	0.49094	T	0.091508105	0.21444	0.17818081	0.40470	0.091508105	0.21443	0.17818081	0.40470	-7.449	0.57561	T	.	.	0.150	0.33273	B	.;.;.	.;.;.	3.665792	0.52099	23.2	0.95419256017515031	0.26896	0.96533	0.69615	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.945084719351446	0.27645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.84	4.66	0.57857	2.449000	0.44592	2.877000	0.35304	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1666:0.0:0.8334	7.901	0.28894	738	0.53389	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.005263	0.07143	81.44	35	chrX	118392690	.	T	G	81.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.72;DP=188;ExcessHet=0;FS=2.632;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.4;ReadPosRankSum=1.83;SOR=0.991	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1037	6	0	1	0
chrX	119096690	119096690	C	T	exonic	KIAA1210	.	nonsynonymous SNV	KIAA1210:NM_020721:exon8:c.G1070A:p.S357N	.	435	1061	18	8	0	34	0.0157699	0	0.044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0024	0.00317881	0.0039	0.0002	0.0042	0	0.0010	0.0039	0.0027	0.0123	0.0028525	441	154602	rs182311514	0.0028	0.0028	0.0026	0.0032	0.0098	0.0027	0.0027	0.0091	0.0088	0.0002	0.0021	0.0130	3.364e-05	0.0003	0.0097	0.0024	0.0037	0.0098	0.0025	0.0027	0.0024	0.0027	0.0099	0.0022	0.0021	0.0069	0.0060	0.0003	0.0654	0.0017	0.0091	0.0003	0.0007	0.0092	0.0027	0.0026	0.0099	0.174	0.22486	T	0.238	0.24549	T	0.27	0.31762	B	0.086	0.29521	B	.	.	.	.	1	0.81001	D	1.54	0.38927	L	2.54	0.13916	T	-0.75	0.21003	N	0.028	0.00618	-0.9330	0.43695	T	0.013	0.04843	T	9	0.0036037862	0.00065	T	.	.	.	0.023	0.04649	.	.	0.256283259241	0.25257	0.1549982947328024	0.15420	0.0445709516192	0.04814	0.345253974199	0.17220	T	0.012459	0.10945	T	-0.904064	0.00000	T	-1.06557	0.00051	T	0.00257594705588329	0.00027	T	0.324568	0.06628	T	0.13355963	0.31060	0.1253177	0.30197	0.13355963	0.31060	0.1253177	0.30196	-5.115	0.38065	T	.	.	0.117	0.23814	B	.	.	-0.018815	0.04155	0.996	0.94259610666449478	0.24538	0.00921	0.03583	N	AEFBI	.	.	.	.	.	.	.	.	.	0.020656159714741	0.13278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.47	-1.04	0.09555	0.007000	0.13074	0.124000	0.14956	-0.773000	0.03420	0.048000	0.21332	0.008000	0.19753	0.007000	0.07825	0.1872:0.3246:0.0:0.4882	3.538	0.07356	526	0.73951	Domain of unknown function DUF4592	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.006211	0.000000	0.003711	0.008000	0.000000	0.023529	0.004425	0.010526	0.07143	1447.44	89	chrX	119096690	.	C	T	1447.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.722;DP=262;ExcessHet=0;FS=1.82;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.26;ReadPosRankSum=0.941;SOR=0.972	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	0
chrX	120109245	120109245	C	T	exonic	RHOXF1	.	nonsynonymous SNV	RHOXF1:NM_139282:exon3:c.G502A:p.A168T	.	431	1089	1	1	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0160584967992	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1484612375	1.84e-05	1.912e-05	1.364e-05	2.827e-05	0.0002	1.202e-05	9.77e-06	1.349e-05	1.113e-05	0	0	0	0	0	0.0002	2.159e-05	0	1.908e-05	8.989e-06	8.71e-06	1.285e-05	0	3.268e-05	0	0	.	.	3.268e-05	0	0	0	0	0	0	0	0	0	0.111	0.29029	T	0.233	0.24913	T	0.256	0.31372	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	0.925	0.23481	L	-2.74	0.90735	D	-0.82	0.22508	N	0.024	0.00445	-0.6290	0.63613	T	0.428	0.77068	T	9	0.0668208	0.09221	T	0.016058	0.37127	T	0.068	0.19811	0.304	0.27325	0.340919117937	0.33698	0.341589160300983	0.34071	0.262393908141	0.28800	0.250452697277	0.03816	T	0.035823	0.23866	T	-0.312796	0.07504	T	-0.687086	0.06559	T	0.0479592462445096	0.05137	T	0.381062	0.09207	T	0.049024027	0.08640	0.08214032	0.18722	0.049024027	0.08639	0.08214032	0.18722	-4.781	0.34369	T	.	.	0.123	0.25624	B	.	.	-0.798960	0.01109	0.050	0.9342164212506856	0.23189	0.00091	0.00603	N	AEFI	.	.	.	.	.	.	.	.	.	4.80104337279499E-5	0.03989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.14	0.554	0.16430	-0.934000	0.04063	-2.659000	0.03497	-0.313000	0.06017	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.199:0.303:0.498	2.717	0.04869	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.002759	0.000000	0.003711	0.000000	0.000000	0.000000	0.004425	0.005263	0.08333	464.27	39	chrX	120109245	.	C	T	464.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.626;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-1.617;SOR=0.602	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1175	5	0	1	1
chrX	120379482	120379482	A	T	exonic	ATP1B4	.	nonsynonymous SNV	ATP1B4:NM_001142447:exon8:c.A922T:p.T308S,ATP1B4:NM_012069:exon8:c.A910T:p.T304S	.	430	1034	30	28	0	86	0.0399257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	.	0.0014	0.00529801	0.0038	0.0005	0.0005	0	0.0022	0.0024	0.0082	0.0223	0.0036804	569	154602	rs138577504	0.0023	0.0023	0.0018	0.0032	0.0288	0.0022	0.0022	0.0245	0.0230	0.0002	0.0008	0.0005	3.334e-05	0.0015	0.0288	0.0013	0.0036	0.0195	0.0018	0.0019	0.0016	0.0024	0.0190	0.0016	0.0015	0.0148	0.0133	0.0001	0.0044	0.0019	0.0004	0.0006	0.0011	0.0327	0.0019	0.0033	0.0190	0.208	0.19782	T	0.2	0.27591	T	0.711	0.42090	P	0.41	0.44785	B	0.000000	0.84330	D	0.047345	0.999845	0.49770	D	0.995	0.25082	L	1.56	0.29602	T	-1.65	0.39692	N	0.067	0.07398	-1.0910	0.05367	T	0.060	0.24981	T	10	0.009136409	0.00206	T	.	.	.	0.094	0.27141	.	.	0.516770950016	0.51320	0.7401097463312105	0.73955	0.433384082707	0.43495	0.614305377007	0.54924	T	0.016557	0.13660	T	-0.654293	0.00068	T	-0.697686	0.05953	T	0.0296468893722377	0.01935	T	0.79512	0.43772	T	0.40518048	0.61089	0.34659722	0.60326	0.40518048	0.61090	0.34659722	0.60325	-5.61	0.43210	T	.	.	0.194	0.52177	B	.;.;.	.;.;.	2.149820	0.27382	17.44	0.99072733689664194	0.51762	0.84846	0.43938	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999872186014163	0.44625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.72	5.72	0.89380	4.136000	0.57766	11.011000	0.84858	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.660000	0.32968	1.0:0.0:0.0:0.0	14.033	0.64149	924	0.18029	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.021424	0.000000	0.018553	0.035573	0.000000	0.011765	0.026549	0.026316	0.08333	747.27	29	chrX	120379482	.	A	T	747.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.641;DP=176;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=0.077;SOR=0.711	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1168	5	0	1	1
chrX	124081437	124081437	T	G	exonic	STAG2	.	nonsynonymous SNV	STAG2:NM_001375375:exon27:c.T2833G:p.F945V,STAG2:NM_006603:exon27:c.T2833G:p.F945V,STAG2:NM_001042749:exon28:c.T2833G:p.F945V,STAG2:NM_001042750:exon28:c.T2833G:p.F945V,STAG2:NM_001042751:exon28:c.T2833G:p.F945V,STAG2:NM_001282418:exon28:c.T2833G:p.F945V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.0606184485289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	0.17701	T	0.247	0.25670	T	0.099	0.25639	B	0.108	0.31289	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.93	0.51437	L	1.71	0.35405	T	-3.55	0.68764	D	0.479	0.52386	-1.0843	0.06535	T	0.089	0.34188	T	10	0.28190458	0.45768	T	0.060618	0.68060	D	0.226	0.52472	0.313	0.28774	0.878892413539	0.87770	0.8350191374688833	0.83460	1.74758098799	0.90959	0.790423154831	0.80507	T	0.343671	0.71229	T	0.233942	0.77091	D	0.0982644	0.76793	D	0.945026516914368	0.62179	D	0.894511	0.63379	D	0.87274814	0.89081	0.5371338	0.73252	0.87274814	0.89082	0.5371338	0.73252	-11.656	0.83135	D	0.4392481225320609	0.52504	0.726	0.74131	P	.;.;.;.;.	.;.;.;.;.	2.888423	0.38249	20.7	0.98130708185957261	0.38514	0.95838	0.66370	D	AEGBI	.	.	.	.	.	.	.	.	.	0.999851276444135	0.44174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.83	4.63	0.57175	5.137000	0.64630	7.783000	0.68714	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1384:0.0:0.0:0.8616	11.322	0.48663	924	0.18029	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1351.27	33	chrX	124081437	.	T	G	1351.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.332;DP=289;ExcessHet=0;FS=1.412;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=0.427;SOR=0.832	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1299	5	0	1	1
chrX	124497154	124497154	T	C	exonic	TENM1	.	nonsynonymous SNV	TENM1:NM_001163278:exon20:c.A3557G:p.N1186S,TENM1:NM_001163279:exon20:c.A3554G:p.N1185S,TENM1:NM_014253:exon20:c.A3557G:p.N1186S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407	0.418012289482	9.5e-05	.	2.366e-05	0	0	0	0	4.322e-05	0	0	1.94e-05	3	154602	rs140517614	1.185e-05	1.184e-05	1.09e-05	1.378e-05	0.0005	6.61e-06	5.09e-06	8.535e-05	3.554e-05	0	0	0	0	0	0.0005	1.307e-05	0	0	1.8e-05	1.742e-05	1.286e-05	2.996e-05	0.0003	2.99e-06	1.12e-06	.	.	0	0	0	0	0.0003	0	0	1.886e-05	0	0	0.05	0.39575	D	0.052	0.47581	T	0.027	0.19556	B	0.019	0.18783	B	0.000084	0.51296	D	0.169682	0.999982	0.54805	D	1.925	0.51371	L	-2.11	0.86216	D	-3.48	0.67941	D	0.443	0.48134	-0.1705	0.78416	T	0.523	0.82192	D	10	0.52042246	0.62610	D	0.418012	0.93735	D	0.407	0.71946	.	.	0.873550825686	0.87232	0.3619815146997668	0.36112	0.477844528706	0.46885	0.582825899124	0.50483	T	0.230268	0.59629	T	-0.239851	0.15368	T	-0.469815	0.25536	T	0.205163562431065	0.20697	T	0.885611	0.61095	D	0.3644112	0.58169	0.37553218	0.62695	0.3644112	0.58170	0.37553218	0.62695	-6.888	0.53210	T	.	.	0.071	0.03698	B	.;.	.;.	2.607077	0.33848	19.46	0.99596562626663776	0.73925	0.97012	0.72181	D	AEFI	.	.	.	.	.	.	.	.	.	0.999661652901077	0.41534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.43	5.43	0.79006	5.065000	0.64175	7.859000	0.71346	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.532	0.67516	962	0.08456	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1878.49	33	chrX	124497154	.	T	C	1878.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.715;DP=353;ExcessHet=0;FS=2.657;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=0.767;SOR=0.502	GT:AD:DP:GQ:PL	0/1:90,84:174:99:1889,0,2123	6	0	1	0
chrX	130037469	130037469	G	C	exonic	BCORL1	.	nonsynonymous SNV	BCORL1:NM_021946:exon9:c.G4408C:p.D1470H,BCORL1:NM_001379450:exon10:c.G4630C:p.D1544H,BCORL1:NM_001379451:exon10:c.G4630C:p.D1544H,BCORL1:NM_001184772:exon11:c.G4630C:p.D1544H	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.473	0.811831089979	.	.	1.143e-05	0	0.0001	0	0	0	0	0	6.5e-06	1	154602	rs200861335	2.732e-06	2.732e-06	0	8.253e-06	5.682e-05	7.3e-07	2e-07	9.41e-06	3.52e-06	0	5.682e-05	0	0	0	0	1.188e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.008	0.67890	D	.	.	.	.	.	.	0.064969	0.21914	N	0.232716	0.990929	0.47592	D	.	.	.	-0.71	0.72889	T	-2.2	0.52128	N	0.543	0.57006	0.113	0.84418	D	0.568	0.84354	D	10	0.61804783	0.67819	D	0.811831	0.98533	D	0.473	0.76619	0.504	0.59770	0.961402668993	0.96098	0.7922897795816486	0.79180	1.21637778066	0.80984	0.603613257408	0.53414	T	0.039065	0.25061	T	0.247767	0.78393	D	0.230614	0.84700	D	0.71886321966779	0.41642	D	0.443756	0.12347	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.620	0.69698	P	.;.;.	.;.;.	4.238093	0.64232	24.7	0.99046394905376423	0.51140	0.95717	0.65855	D	AEFI	.	.	.	.	.	.	.	.	.	0.998846081317334	0.37800	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.69	5.69	0.88346	4.926000	0.63134	7.578000	0.60885	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0:0.0:1.0:0.0	18.829	0.92098	428	0.80967	.;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1255.24	39	chrX	130037469	.	G	C	1255.24	.	AC=2;AF=0.143;AN=14;DP=233;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=32.19;SOR=1.236	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	6	1	0	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L,INTS6L:NM_001351604:exon15:c.G2233C:p.V745L,INTS6L:NM_001351605:exon15:c.G2233C:p.V745L,INTS6L:NM_001351606:exon15:c.G1639C:p.V547L,INTS6L:NM_182540:exon15:c.G2365C:p.V789L,INTS6L:NM_001351601:exon16:c.G2476C:p.V826L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	221.61	46	chrX	135580144	.	G	C	221.61	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.167;DP=355;ExcessHet=3.1439;FS=347.102;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=0.164;SOR=9.383	GT:AD:DP:GQ:PL	0/1:63,32:95:99:135,0,965	2	0	4	1
chrX	135901671	135901671	C	T	exonic	SAGE1	.	nonsynonymous SNV	SAGE1:NM_001381902:exon3:c.C200T:p.S67L,SAGE1:NM_018666:exon3:c.C200T:p.S67L	.	425	1080	9	8	0	25	0.0114416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	0.0059	0.00450331	0.0081	0.0012	0.0057	0	0.0077	0.0103	0.0049	0.0116	0.0072832	1126	154602	rs143643223	0.0086	0.0086	0.0085	0.0088	0.0108	0.0084	0.0084	0.0101	0.0098	0.0013	0.0052	0.0129	3.318e-05	0.0084	0.0085	0.0090	0.0082	0.0108	0.0057	0.0058	0.0057	0.0055	0.0112	0.0053	0.0051	0.0081	0.0070	0.0011	0.0029	0.0062	0.0124	0.0006	0.0070	0	0.0078	0.0066	0.0112	0.825	0.02921	T	1.0	0.01155	T	0.0	0.12183	B	0.0	0.04355	B	0.000172	0.48594	N	0.136757	1	0.08975	N	-0.55	0.02420	N	1.51	0.30937	T	0.26	0.04380	N	0.046	0.03392	-1.0543	0.13225	T	0.017	0.06807	T	10	0.0046487153	0.00097	T	.	.	.	0.039	0.10176	.	.	0.195762928549	0.19159	0.004705424765767787	0.00443	.	.	0.245691627264	0.03328	T	0.001809	0.01403	T	-0.942697	0.00000	T	-1.1175	0.00019	T	0.00177517519927836	0.00018	T	0.374163	0.08891	T	0.027866019	0.02039	0.047462787	0.06840	0.027866019	0.02039	0.047462787	0.06840	-4.531	0.31292	T	.	.	0.053	0.00254	B	.;.;.	.;.;.	-1.417698	0.00348	0.006	0.12362820853464315	0.00212	0.00013	0.00170	N	AEFI	.	.	.	.	.	.	.	.	.	3.18483205343529E-4	0.06498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.33	-2.67	0.05703	-1.851000	0.01761	-20.000000	0.00162	-0.580000	0.04711	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.5721:0.0:0.4279	5.011	0.13656	151	0.94052	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.006954	0.013699	0.005587	0.000000	0.000000	0.000000	0.013575	0.010695	0.07143	1596.45	100	chrX	135901671	.	C	T	1596.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.475;DP=281;ExcessHet=0;FS=2.701;MLEAC=1;MLEAF=0.071;MQ=59.6;MQRankSum=-1.579;QD=15.96;ReadPosRankSum=-1.023;SOR=0.452	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1363	6	0	1	0
chrX	136322865	136322865	G	A	exonic	ADGRG4	.	nonsynonymous SNV	ADGRG4:NM_153834:exon5:c.G158A:p.S53N	.	437	1078	5	2	0	9	0.00415704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00816938077981	.	0.0010596	0.0002	0	0.0003	0	0	0.0003	0	0.0001	0.0002393	37	154602	rs145927330	0.0004	0.0004	0.0004	0.0004	0.0068	0.0003	0.0003	0.0048	0.0042	0.0004	0.0010	0.0008	0	0	0.0068	0.0003	0.0010	9.243e-05	0.0006	0.0006	0.0006	0.0005	0.0043	0.0005	0.0004	0.0033	0.0029	0.0002	0	0.0043	0.0011	0	0	0	0.0002	0.0020	0	0.002	0.72154	D	0.012	0.63918	D	0.801	0.45051	P	0.598	0.50679	P	.	.	.	.	1	0.08975	N	.	.	.	3.34	0.06063	T	-1.16	0.29727	N	0.197	0.21710	-1.0088	0.27292	T	0.021	0.08870	T	9	0.0124438405	0.00267	T	0.008169	0.21649	T	0.043	0.11576	.	.	0.215109475489	0.21095	0.39770886617482226	0.39685	0.254578666066	0.28029	0.333193838596	0.15415	T	0.010705	0.09641	T	-0.733683	0.00023	T	-0.905923	0.00462	T	0.0906736806679093	0.11298	T	0.481352	0.14557	T	0.41108593	0.61492	0.26202172	0.51988	0.41108593	0.61493	0.26202172	0.51987	-3.847	0.21508	T	.	.	0.180	0.39220	B	.;.	.;.	2.742079	0.35919	20.1	0.98753762340551643	0.45694	0.32198	0.24526	N	AEFI	.	.	.	.	.	.	.	.	.	0.00908787293553599	0.11793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.85	0.501	0.16130	0.915000	0.28260	2.984000	0.35852	0.676000	0.76740	0.943000	0.32764	0.999000	0.35428	0.999000	0.91618	0.166:0.1216:0.4313:0.2811	2.072	0.03395	799	0.44747	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.004824	0.020408	0.000000	0.003953	0.000000	0.011765	0.004425	0.005263	0.1429	2496.22	33	chrX	136322865	.	G	A	2496.22	.	AC=2;AF=0.143;AN=14;DP=264;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=31.6;SOR=1.207	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1034	6	1	0	0
chrX	136348572	136348572	C	G	exonic	ADGRG4	.	nonsynonymous SNV	ADGRG4:NM_153834:exon6:c.C4866G:p.N1622K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00685907420191	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1267775469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.33585	T	0.039	0.51112	D	0.017	0.19866	B	0.007	0.17295	B	.	.	.	.	1	0.08975	N	.	.	.	1.74	0.26885	T	-0.76	0.21215	N	0.095	0.12055	-0.9747	0.36191	T	0.022	0.09467	T	9	0.044595957	0.03435	T	0.006859	0.18149	T	0.066	0.19193	0.328	0.31196	0.0401082797425	0.02173	0.026025079312207336	0.02553	0.0383316184181	0.04077	0.252176344395	0.04001	T	0.009587	0.08721	T	-0.550227	0.00291	T	-1.02814	0.00093	T	0.0424691748307121	0.04141	T	0.385361	0.09439	T	0.0946174	0.22249	0.08749049	0.20340	0.0946174	0.22249	0.08749049	0.20339	-4.035	0.24326	T	.	.	0.187	0.40424	B	.;.;.	.;.;.	0.050297	0.04640	1.299	0.92714471581557667	0.22210	0.00941	0.03634	N	AEFBI	.	.	.	.	.	.	.	.	.	0.998196500409076	0.36560	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.86	-3.3	0.04692	-0.291000	0.08379	-2.961000	0.03189	0.547000	0.25779	0.000000	0.06391	0.000000	0.08366	0.087000	0.17632	0.3455:0.2343:0.1691:0.2511	0.160	0.00095	810	0.42761	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2516.44	112	chrX	136348572	.	C	G	2516.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.11;DP=495;ExcessHet=0;FS=0.549;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=0.641;SOR=0.767	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1229	6	0	1	0
chrX	139965441	139965441	G	T	exonic	CXorf66	.	nonsynonymous SNV	CXorf66:NM_001013403:exon1:c.C56A:p.T19N	.	443	1077	1	1	0	3	0.00139082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00258972176968	.	.	4.57e-05	0	0	0	0	2.087e-05	0.0016	0.0002	3.23e-05	5	154602	rs779039398	4.475e-05	4.644e-05	3.814e-05	5.818e-05	0.0004	3.425e-05	3.085e-05	0.0002	0.0002	0	0	0	0	0	0	3.095e-05	8.707e-05	0.0004	2.694e-05	2.613e-05	3.856e-05	0	5.644e-05	7.16e-06	2.99e-06	1.497e-05	8.15e-06	0	0	0	0	0	0	0	5.644e-05	0	0	0.879	0.02550	T	1.0	0.01155	T	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-1.32	0.00691	N	0.9	0.45248	T	1.78	0.00525	N	0.032	0.00825	-1.0152	0.25272	T	0.040	0.17149	T	8	0.023298353	0.00605	T	0.00259	0.05235	T	0.019	0.03383	0.199	0.11247	0.115124310173	0.11017	0.12270645830944632	0.12196	0.0914627460255	0.10332	.	.	.	0.001968	0.01375	T	-0.803995	0.00007	T	-1.08028	0.00040	T	0.0172339910884929	0.00465	T	0.291471	0.05330	T	0.047640383	0.08174	0.07758561	0.17296	0.047640383	0.08174	0.07758561	0.17296	-4.045	0.24474	T	.	.	0.073	0.04517	B	.	.	-0.390362	0.02248	0.230	0.11268322550811269	0.00165	0.00131	0.00809	N	AEFI	.	.	.	.	.	.	.	.	.	0.0431529707504823	0.14558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.67	1.19	0.20120	0.570000	0.23357	1.288000	0.25394	-0.124000	0.13482	0.001000	0.13787	0.004000	0.18990	0.128000	0.19490	0.0:0.1313:0.2396:0.6291	3.422	0.06969	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	630.44	80	chrX	139965441	.	G	T	630.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.636;DP=253;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.88;ReadPosRankSum=1;SOR=0.76	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1179	6	0	1	0
chrX	141905868	141905868	T	C	exonic	MAGEC1	.	nonsynonymous SNV	MAGEC1:NM_005462:exon4:c.T464C:p.F155S	.	423	1074	10	6	9	31	0.0101382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	.	0.0013245	0.0037	0.0006	0.0010	0	0	0.0040	0.0079	0.0105	0.0020116	311	154602	rs139443648	0.0024	0.0024	0.0023	0.0025	0.0142	0.0023	0.0023	0.0113	0.0102	0.0002	0.0021	0.0020	0	5.074e-05	0.0142	0.0023	0.0027	0.0065	0.0022	0.0022	0.0021	0.0022	0.0062	0.0019	0.0019	0.0046	0.0042	0.0003	0	0.0058	0.0023	0	0	0.0047	0.0027	0.0039	0.0062	0.329	0.13175	T	0.545	0.09588	T	0.012	0.16265	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	4.07	0.03033	T	-0.66	0.19085	N	0.041	0.01421	-0.8946	0.48521	T	0.005	0.01761	T	8	0.006348878	0.00143	T	.	.	.	0.023	0.04649	.	.	0.0401082797425	0.02173	0.01917039542671657	0.01871	.	.	0.492900371552	0.37841	T	0.004114	0.03522	T	-0.81659	0.00006	T	-0.942583	0.00286	T	0.00239010341465473	0.00025	T	0.230377	0.03106	T	0.084212095	0.19481	0.12148678	0.29312	0.084212095	0.19480	0.12148678	0.29311	-6.287	0.48619	T	.	.	0.806	0.77589	P	.	.	0.291508	0.06680	3.180	0.28806100477940155	0.01497	0.00185	0.01079	N	AEFBCI	.	.	.	.	.	.	.	.	.	9.22317778584206E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.895000	0.04226	.	.	-3.646000	0.00069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3347:0.0:0.6653	3.636	0.07689	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.009682	0.013793	0.005566	0.003953	0.000000	0.011765	0.008850	0.026316	0.07143	3208.44	132	chrX	141905868	.	T	C	3208.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.226;DP=785;ExcessHet=0;FS=0.441;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-1.578;SOR=0.655	GT:AD:DP:GQ:PL	0/1:138,135:273:99:3219,0,3356	6	0	1	0
chrX	141906309	141906309	-	ACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCT	exonic	MAGEC1	.	nonframeshift insertion	MAGEC1:NM_005462:exon4:c.905_906insACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCT:p.S308_S309insRSFSSTLLSIFQSSPERTQSTFEGFPQSLLQIPVS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0016	0.0008	0.0014	0.0010	0.0010	0.0010	0.0009	0.0009	4.076e-05	0.0008	0.0022	0	0.0034	0.0008	0.0010	0.0013	0.0006	0.0002	0.0005	0.0001	0.0003	0.0003	0.0001	9.257e-05	0.0002	0.0001	3.628e-05	0	0	0	0	0.0006	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15708.6	86	chrX	141906309	.	C	CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCT	15708.6	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.819;DP=863;ExcessHet=0;FS=3.112;MLEAC=3;MLEAF=0.25;MQ=51.05;MQRankSum=-1.843;QD=33.66;ReadPosRankSum=2.65;SOR=0.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:4,102:273:99:.:.:10770,3432,3006:.	4	1	1	1
chrX	151743324	151743324	G	A	exonic	CNGA2	.	nonsynonymous SNV	CNGA2:NM_005140:exon7:c.G821A:p.R274H	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.911	0.718277477516	0.0013	0.000529801	0.0008	0.0001	0.0010	0	0	0.0012	0.0016	0.0006	0.0007438	115	154602	rs151204211	0.0009	0.0009	0.0010	0.0008	0.0022	0.0009	0.0009	0.0011	0.0008	0.0003	0.0008	0.0075	0	0	0.0022	0.0009	0.0015	0.0002	0.0008	0.0008	0.0008	0.0006	0.0010	0.0006	0.0006	0.0008	0.0007	0.0002	0	0.0008	0.0062	0	0	0	0.0010	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999941	0.51968	D	4.145	0.97549	H	-4.32	0.97218	D	-4.7	0.79829	D	0.165	0.17416	1.072	0.98642	D	0.963	0.98800	D	10	0.028111547	0.00947	T	0.718277	0.97718	D	0.911	0.97624	.	.	0.917678485018	0.91684	0.947613690424336	0.94744	0.130659878838	0.14740	0.706163406372	0.68036	T	0.910382	0.98308	D	0.210525	0.74879	D	0.479187	0.94188	D	0.186637766624428	0.19644	T	0.958004	0.84234	D	0.9715778	0.98406	0.90619135	0.95418	0.9715778	0.98406	0.90619135	0.95418	-12.495	0.87178	D	.	.	0.820	0.78225	P	.	.	4.688818	0.75117	26.3	0.99924133276250848	0.98980	0.97415	0.74604	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.996905044360381	0.35104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.09	4.23	0.49319	7.768000	0.84170	7.699000	0.66186	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0957:0.0:0.9043:0.0	10.852	0.45983	758	0.50837	Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.1429	4016.22	37	chrX	151743324	.	G	A	4016.22	.	AC=2;AF=0.143;AN=14;DP=323;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.89;SOR=1.005	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1235	6	1	0	0
chrX	151924368	151924368	G	C	exonic	MAGEA4	.	nonsynonymous SNV	MAGEA4:NM_001011548:exon3:c.G704C:p.R235T,MAGEA4:NM_001011549:exon3:c.G704C:p.R235T,MAGEA4:NM_001011550:exon3:c.G704C:p.R235T,MAGEA4:NM_002362:exon3:c.G704C:p.R235T	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00240002863196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.558e-06	4.553e-06	0	1.38e-05	5.942e-06	1.34e-06	9.7e-07	1.74e-06	1.27e-06	0	0	0	0	0	0	5.942e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48186	D	0.067	0.44501	T	0.051	0.22415	B	0.038	0.23361	B	0.154200	0.17869	N	0.601453	1	0.08975	N	2.525	0.73725	M	3.51	0.04959	T	-3.77	0.71397	D	0.146	0.14763	-0.9861	0.33566	T	0.017	0.07140	T	9	0.20386696	0.36556	T	0.002	0.04701	T	0.043	0.11576	0.683	0.82078	0.15499578495	0.15088	0.28224188199584044	0.28137	0.00283182283537	0.00241	0.235563755035	0.02405	T	0.042422	0.26178	T	-0.411504	0.01943	T	-0.828873	0.01282	T	0.304191023111343	0.25176	T	0.106789	0.10339	T	0.243736	0.47315	0.25240082	0.50868	0.243736	0.47315	0.25240082	0.50867	-2.678	0.07120	T	.	.	0.150	0.33110	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	-0.425770	0.02119	0.201	0.60672456281311093	0.06520	0.00444	0.02161	N	AEFI	.	.	.	.	.	.	.	.	.	0.472283904669244	0.20717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.37	-4.73	0.03022	-3.632000	0.00458	-20.000000	0.00162	-0.820000	0.02968	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.5197:0.1492:0.1802:0.1509	1.782	0.02851	728	0.54609	MAGE homology domain|MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2571.49	38	chrX	151924368	.	G	C	2571.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.952;DP=414;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-0.437;SOR=0.692	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1575	6	0	1	0
chrX	153319950	153319950	C	T	exonic	PNMA6F	.	nonsynonymous SNV	PNMA6F:NM_001354980:exon2:c.G725A:p.R242Q	.	920	601	1	0	0	1	0.000831255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00688742	.	.	.	.	.	.	.	.	0.0014215	37	26028	rs112153704	0.0007	0.0005	0.0008	0.0006	0.0182	0.0006	0.0006	0.0154	0.0143	0.0182	0.0005	0.0001	5.707e-05	0	0	3.263e-05	0.0020	0	0.0052	0.0053	0.0054	0.0046	0.0181	0.0048	0.0047	0.0169	0.0164	0.0181	0	0.0011	0	0	0	0	0	0.0039	0.0004	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00770	.	.	.	.	.	.	.	0.0063058734	0.00142	T	.	.	.	.	.	.	.	.	.	0.06341944205111516	0.06280	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436356	0.11970	T	0.043219402	0.06695	0.1038787	0.24936	0.043219402	0.06695	0.1038787	0.24935	0.257	0.00270	T	.	.	0.074	0.05274	B	.	.	-0.322531	0.02520	0.299	0.61366071164565394	0.06691	0.00094	0.00618	N	AEFBI	.	.	.	.	.	.	.	.	.	0.0508398074644013	0.14853	.	.	.	.	.	.	.	.	.	.	.	.	0.046323	0.05263	2.71	1.56	0.22423	-0.536000	0.06223	.	.	-0.321000	0.05860	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.1667:0.0:0.8333	5.215	0.14660	162	0.93704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2230.45	38	chrX	153319950	.	C	T	2230.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.5;DP=369;ExcessHet=0;FS=1.847;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-0.843;SOR=0.549	GT:AD:DP:GQ:PL	0/1:89,90:179:99:2241,0,2026	6	0	1	0
chrX	153347781	153347781	A	-	exonic	ZNF275	.	frameshift deletion	ZNF275:NM_001367757:exon4:c.1096delA:p.K366Sfs*9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	34.4	36	chrX	153347780	.	CA	C	34.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.493;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.44;ReadPosRankSum=-0.282;SOR=0.693	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	6	0	1	0
chrX	153398281	153398281	-	CCTCACCTGCTGCTCCTGCCTCACCTGCGCCTCCTG	exonic	PNMA6E	.	nonframeshift insertion	PNMA6E:NM_001367770:exon2:c.568_569insCAGGAGGCGCAGGTGAGGCAGGAGCAGCAGGTGAGG:p.E189_G190insAGGAGEAGAAGE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0071	0.0018	0.0059	0.0092	0.0131	0.0066	0.0065	0.0109	0.0101	0.0013	0.0131	0.0105	0	0.0103	0.0108	0.0075	0.0103	0.0011	0.0002	0.0006	0.0003	0	0.0003	0.0001	8.951e-05	0.0001	9.153e-05	8.465e-05	0	0.0003	0	0	0.0007	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	296.85	41	chrX	153398281	.	C	CCCTCACCTGCTGCTCCTGCCTCACCTGCGCCTCCTG	296.85	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.245;DP=182;ExcessHet=0;FS=3.9;MLEAC=1;MLEAF=0.071;MQ=59.17;MQRankSum=-2.037;QD=10.6;ReadPosRankSum=-0.936;SOR=0.207	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	6	0	1	0
chrX	153910330	153910330	G	A	exonic	ARHGAP4	.	nonsynonymous SNV	ARHGAP4:NM_001666:exon17:c.C1997T:p.P666L,ARHGAP4:NM_001164741:exon18:c.C2117T:p.P706L	.	430	1091	0	1	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.384608861847	0.0027	0.0010596	0.0018	0.0003	0.0015	0	0.0008	0.0027	0	0.0004	0.0016365	253	154602	rs142533512	0.0024	0.0024	0.0024	0.0025	0.0028	0.0023	0.0023	0.0027	0.0027	0.0005	0.0022	0.0014	3.317e-05	0.0009	0.0007	0.0028	0.0020	0.0002	0.0022	0.0023	0.0023	0.0020	0.0036	0.0020	0.0019	0.0031	0.0030	0.0003	0	0.0033	0.0026	0.0003	0.0010	0	0.0036	0.0020	0	0.006	0.61437	D	0.031	0.56640	D	0.496	0.37079	P	0.129	0.32841	B	0.102423	0.19794	N	0.370648	0.999994	0.18198	N	2.475	0.71894	M	2.16	0.19166	T	-4.68	0.79659	D	0.301	0.45426	-0.8996	0.48034	T	0.195	0.54942	T	10	0.013324112	0.00283	T	0.384609	0.93050	D	0.136	0.36778	.	.	0.357212565759	0.35331	0.6269777925268617	0.62630	0.0758446681367	0.08513	0.626922905445	0.56708	T	0.199623	0.55696	T	-0.534002	0.00364	T	-0.543198	0.17983	T	0.04067512130172	0.03812	T	0.975469	0.91883	D	0.2244044	0.45081	0.24149224	0.49548	0.2244044	0.45081	0.24149224	0.49547	-9.689	0.72029	D	.	.	0.196	0.41798	B	.;.;.;.	.;.;.;.	3.211754	0.43726	21.8	0.97866191383501755	0.36499	0.40065	0.26353	N	AEFBHCI	.	.	.	.	.	.	.	.	.	0.992297926035714	0.32788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.68	3.66	0.41111	0.897000	0.28022	.	.	0.658000	0.54486	0.906000	0.31575	1.000000	0.68203	0.736000	0.35301	0.1709:0.0:0.8291:0.0	9.017	0.35337	180	0.92993	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1030.23	36	chrX	153910330	.	G	A	1030.23	.	AC=2;AF=0.143;AN=14;DP=229;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=28.62;SOR=0.693	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	6	1	0	0
chrX	153954347	153954347	G	T	exonic	HCFC1	.	nonsynonymous SNV	HCFC1:NM_005334:exon17:c.C4052A:p.P1351H	Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), X-linked recessive	.	.	.	.	.	.	.	.	.	.	1335301	Methylmalonic_acidemia_with_homocystinuria,_type_cblX|not_specified	MONDO:MONDO:0010657,MedGen:C0796208,OMIM:309541,Orphanet:369962|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.031	0.170433974431	.	.	2.43e-05	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs111385795	1.559e-05	1.548e-05	1.092e-05	2.514e-05	0.0003	9.49e-06	7.76e-06	0.0002	0.0002	0	0	0	0	0	0	0	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.65419	D	0.08	0.41913	T	0.454	0.36182	P	0.156	0.34472	B	0.405505	0.13067	N	0.753550	1	0.08975	N	1.245	0.31408	L	4.08	0.03003	T	-1.26	0.33197	N	0.222	0.24883	-0.9755	0.36015	T	0.012	0.04463	T	10	0.062199056	0.07917	T	0.170434	0.84799	D	0.031	0.07369	0.201	0.11522	0.138757226776	0.13463	0.3749966295393151	0.37413	1.03562878044	0.75583	0.332493126392	0.15311	T	0.118656	0.43963	T	-0.611252	0.00124	T	-0.80693	0.01735	T	0.0441831551629783	0.04454	T	0.666933	0.27600	T	0.09337487	0.21929	0.12704177	0.30587	0.09337487	0.21929	0.12704177	0.30586	-4.629	0.32534	T	0.1957174390025448	0.25830	0.079	0.17953	B	.;.	.;.	2.439728	0.31399	18.73	0.9912456313364254	0.53089	0.52484	0.29142	D	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999605788295	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.75	2.6	0.30173	0.598000	0.23774	.	.	0.672000	0.70159	0.001000	0.13787	1.000000	0.68203	0.772000	0.36596	0.2639:0.0:0.7361:0.0	10.750	0.45401	91	0.96221	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.000689	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.07143	1386.45	38	chrX	153954347	.	G	T	1386.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.273;DP=306;ExcessHet=0;FS=0.728;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-0.199;SOR=0.843	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	6	0	1	0
chrX	154652152	154652152	C	G	exonic	CTAG2	.	nonsynonymous SNV	CTAG2:NM_172377:exon3:c.G520C:p.A174P	.	459	1058	3	2	0	7	0.00329722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.000663695475345	.	.	0.0004	0.0002	0	0.0012	0	8.549e-05	0.0016	0.0019	0.0016106	249	154602	rs201803251	0.0014	0.0023	0.0009	0.0026	0.0118	0.0014	0.0014	0.0111	0.0108	0.0017	0.0011	0.0002	0.0038	9.869e-05	0.0014	0.0008	0.0014	0.0118	0.0018	0.0029	0.0024	0.0004	0.0108	0.0016	0.0015	0.0077	0.0066	0.0020	0.0015	0.0010	0.0004	0.0043	0	0.0047	0.0016	0.0013	0.0108	.	.	.	0.271	0.22291	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.9	0.23486	T	0.41	0.03407	N	0.024	0.00445	-1.0097	0.27012	T	0.028	0.12147	T	9	0.005469352	0.00121	T	6.64E-4	0.00367	T	0.003	0.00094	.	.	0.149567049428	0.14543	.	.	.	.	.	.	.	.	.	.	-0.645373	0.00077	T	-1.16481	0.00005	T	0.000144985096994787	0.00001	T	0.308669	0.05963	T	.	.	.	.	.	.	.	.	-3.004	0.10224	T	.	.	0.041	0.00020	B	.	.	0.148909	0.05414	1.890	0.4723368625449702	0.03846	0.00012	0.00170	N	AEFBI	.	.	.	.	.	.	.	.	.	0.0902437355507541	0.16104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.63	-0.819	0.10283	0.057000	0.14157	-3.673000	0.02615	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1301:0.62:0.2499:0.0	7.253	0.25337	80	0.96670	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000767	0.000000	0.000000	0.000000	0.000000	0.000000	0.005051	0.000000	0.07143	151.53	34	chrX	154652152	.	C	G	151.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.17;DP=156;ExcessHet=0;FS=5.463;MLEAC=1;MLEAF=0.071;MQ=44.5;MQRankSum=-3.406;QD=5.61;ReadPosRankSum=-2.19;SOR=2.34	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1105	6	0	1	0
chrX	154776813	154776813	-	AAG	exonic	DKC1	.	nonframeshift insertion	DKC1:NM_001142463:exon15:c.1476_1477insAAG:p.K500_A501insK,DKC1:NM_001363:exon15:c.1491_1492insAAG:p.K505_A506insK	Dyskeratosis congenita, X-linked, X-linked recessive	.	.	.	.	.	.	.	.	.	.	208981	Dyskeratosis_congenita|not_specified|not_provided|Dyskeratosis_congenita,_X-linked	MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010584,MedGen:C1148551,OMIM:305000	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00900662	0.0091	0.0009	0.0052	0	0.0021	0.0071	0.0171	0.0394	0.0007684	20	26028	rs1315337295	0.0043	0.0046	0.0053	0.0021	0.0376	0.0042	0.0041	0.0328	0.0309	0.0008	0.0041	0.0183	0.0002	0.0008	0.0376	0.0030	0.0064	0.0224	0.0045	0.0051	0.0047	0.0040	0.0300	0.0042	0.0040	0.0245	0.0225	0.0008	0	0.0076	0.0191	0.0003	0.0009	0.0372	0.0045	0.0101	0.0300	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2225.38	36	chrX	154776813	.	C	CAAG	2225.38	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.201;DP=275;ExcessHet=0;FS=2.55;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.61;ReadPosRankSum=2.39;SOR=0.456	GT:AD:DP:GQ:PL	0/1:49,55:106:99:2161,0,1872	6	0	1	0
chrX	155077215	155077215	C	T	exonic	BRCC3	.	stopgain	BRCC3:NM_001018055:exon4:c.C241T:p.R81X,BRCC3:NM_001242640:exon4:c.C244T:p.R82X,BRCC3:NM_024332:exon4:c.C241T:p.R81X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.299e-05	0	0	0	0.0002	2.086e-05	0	0	1.94e-05	3	154602	rs782376891	1.856e-06	7.285e-06	2.74e-06	0	2.413e-06	3.1e-07	1.2e-07	4e-07	1.5e-07	0	0	0	0	0	0	2.413e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.786	0.91852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58478	0.97200	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;Dominant;.;.;.	.;.;.;.;.;High;.;.;.	7.567281	0.96647	36	0.99760285010060668	0.85011	0.94695	0.62013	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999992446882869	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.15	3.27	0.36580	4.537000	0.60354	1.715000	0.28221	-0.184000	0.09925	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3103:0.6897:0.0:0.0	11.833	0.51579	446	0.79659	.;.;.;JAB1/MPN/MOV34 metalloenzyme domain|MPN domain|JAB1/MPN/MOV34 metalloenzyme domain;JAB1/MPN/MOV34 metalloenzyme domain|MPN domain|JAB1/MPN/MOV34 metalloenzyme domain;JAB1/MPN/MOV34 metalloenzyme domain|MPN domain|JAB1/MPN/MOV34 metalloenzyme domain;JAB1/MPN/MOV34 metalloenzyme domain|MPN domain|JAB1/MPN/MOV34 metalloenzyme domain;JAB1/MPN/MOV34 metalloenzyme domain|MPN domain|JAB1/MPN/MOV34 metalloenzyme domain;JAB1/MPN/MOV34 metalloenzyme domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	77.49	35	chrX	155077215	.	C	T	77.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.317;DP=199;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.56;ReadPosRankSum=1.85;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1057	6	0	1	0
chrX	155089271	155089271	A	G	exonic	BRCC3	.	nonsynonymous SNV	BRCC3:NM_001018055:exon6:c.A412G:p.T138A,BRCC3:NM_001242640:exon6:c.A415G:p.T139A,BRCC3:NM_024332:exon6:c.A412G:p.T138A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.697	0.0896512853969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.006	0.74150	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999997	0.81001	D	2.83	0.82355	M	0.22	0.59851	T	-4.34	0.82221	D	0.743	0.81162	-0.0964	0.80181	T	0.414	0.76116	T	10	0.9537951	0.94728	D	0.089651	0.75367	D	0.697	0.89053	0.874	0.96529	0.872298162247	0.87105	0.9437853015304329	0.94360	2.46387727901	0.97434	0.768926858902	0.77263	T	0.394485	0.75361	T	0.38895	0.89264	D	0.320924	0.89128	D	0.996612846851349	0.89714	D	0.929907	0.87711	D	0.8814142	0.89783	0.8443836	0.91129	0.8814142	0.89784	0.8443836	0.91129	-12.109	0.85825	D	.	.	0.997	0.97755	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.750548	0.76703	26.6	0.99817229454067924	0.90061	0.95380	0.64494	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999908998427573	0.45458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.78	4.78	0.60666	7.383000	0.79010	10.950000	0.84394	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	11.532	0.49868	465	0.78421	.;.;.;JAB1/MPN/MOV34 metalloenzyme domain|MPN domain|JAB1/MPN/MOV34 metalloenzyme domain;JAB1/MPN/MOV34 metalloenzyme domain|MPN domain|JAB1/MPN/MOV34 metalloenzyme domain;JAB1/MPN/MOV34 metalloenzyme domain|MPN domain|JAB1/MPN/MOV34 metalloenzyme domain;JAB1/MPN/MOV34 metalloenzyme domain|MPN domain|JAB1/MPN/MOV34 metalloenzyme domain;JAB1/MPN/MOV34 metalloenzyme domain|MPN domain|JAB1/MPN/MOV34 metalloenzyme domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	33.22	34	chrX	155089271	.	A	G	33.22	.	AC=2;AF=0.143;AN=14;DP=167;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;QD=16.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	1	0	0
chrY	5100547	5100547	T	C	exonic	PCDH11Y	.	nonsynonymous SNV	PCDH11Y:NM_032972:exon2:c.T2969C:p.L990S,PCDH11Y:NM_032973:exon2:c.T2969C:p.L990S,PCDH11Y:NM_032971:exon5:c.T2936C:p.L979S,PCDH11Y:NM_001278619:exon6:c.T2936C:p.L979S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47319508674	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2563388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.13971	T	0.428	0.13792	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999959	0.19072	N	-2.175	0.00131	N	1.66	0.27486	T	1.23	0.01037	N	0.123	0.24758	.	.	.	.	.	.	.	0.15112364	0.28570	T	0.473195	0.94715	D	.	.	.	.	0.873511691953	0.87228	0.10591350804350975	0.10521	0.385420460955	0.39836	.	.	.	0.002492	0.01884	T	-0.303863	0.08300	T	-0.674255	0.07338	T	.	.	.	0.0317968	0.00203	T	0.13257147	0.30865	0.36686116	0.62007	0.13257147	0.30865	0.36686116	0.62007	-0.258	0.01056	T	.	.	0.051	0.00211	B	.;.;.;.;.	.;.;.;.;.	1.562795	0.20018	14.55	0.28002880445386391	0.01417	0.09053	0.14884	N	AEF	.	.	.	.	.	.	.	.	.	1.00417689864453E-5	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.35	1.45	0.21708	2.322000	0.43474	1.186000	0.24731	-0.715000	0.03906	1.000000	0.71638	0.996000	0.32793	0.855000	0.40485	.	.	.	.	.	.;.;.;.;Protocadherin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	496.11	16	chrY	5100547	.	T	C	496.11	.	AC=2;AF=0.25;AN=8;DP=228;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.375;MQ=29.11;QD=31.01;SOR=5.67	GT:AD:DP:GQ:PL	./.:.:.:.:.	3	1	0	3
chrY	9340076	9340076	C	T	exonic	TSPY1;TSPY10;TSPY3;TSPY4;TSPY8	.	stopgain	TSPY4:NM_001164471:exon6:c.C931T:p.Q311X,TSPY3:NM_001077697:exon7:c.C913T:p.Q305X,TSPY8:NM_001243721:exon7:c.C913T:p.Q305X,TSPY10:NM_001282469:exon7:c.C913T:p.Q305X,TSPY1:NM_001320964:exon7:c.C652T:p.Q218X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0004	.	0.0002	0.0023	0.0002	0.0001	0.0018	0.0016	0	0	0	0	0	0	0	0	0.0023	0	0.0006	.	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.02	0.00308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276756	0.81037	D	0.159764	0.80792	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	4.006042	0.59058	24.1	0.83028600620527626	0.14503	0.02000	0.06028	N	AEF	.	.	.	.	.	.	.	.	.	0.643805545670661	0.22079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.658000	0.24662	.	.	0.147000	0.17684	0.989000	0.36753	0.000000	0.08366	0.005000	0.06747	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	40.7	.	chrY	9340076	.	C	T	40.7	.	AC=2;AF=0.5;AN=4;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.5;MQ=20;QD=20.35;SOR=2.303	GT:AD:DP:GQ:PL	./.:.:.:.:.	1	1	0	5
chrY	9467014	9467014	G	A	exonic	TSPY1	.	nonsynonymous SNV	TSPY1:NM_001197242:exon1:c.G14A:p.G5D,TSPY1:NM_001320964:exon1:c.G14A:p.G5D,TSPY1:NM_003308:exon1:c.G14A:p.G5D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.910826697063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.985	0.61118	D	0.336	0.44119	B	.	.	.	.	.	.	.	1.245	0.31408	L	1.02	0.40749	T	-1.54	0.37375	N	0.059	0.03069	.	.	.	.	.	.	.	0.19815892	0.35775	T	0.910827	0.99335	D	.	.	.	.	0.104622674875	0.10061	0.09278249617791824	0.09210	.	.	.	.	.	0.018577	0.14954	T	-0.332223	0.05945	T	-0.714992	0.05041	T	.	.	.	0.438556	0.12074	T	0.32452494	0.55018	0.29407626	0.55437	0.32452494	0.55018	0.29407626	0.55436	-4.596	0.32121	T	.	.	0.089	0.15966	B	.;.	.;.	1.039675	0.14203	10.78	0.96303815831251716	0.29357	0.01257	0.04415	N	AEF	.	.	.	.	.	.	.	.	.	1.19561883460848E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.094000	0.11060	.	.	0.217000	0.18040	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	59.78	.	chrY	9467014	.	G	A	59.78	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.473;DP=38;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=28.46;MQRankSum=1.09;QD=5.43;ReadPosRankSum=-0.357;SOR=0.495	GT:AD:DP:GQ:PL	./.:.:.:.:.	2	0	1	4
chrY	9529058	9529063	GAAGAT	-	exonic	TSPY10;TSPY3	.	nonframeshift deletion	TSPY3:NM_001077697:exon2:c.526_531del:p.E178_D179del,TSPY10:NM_001282469:exon2:c.526_531del:p.E178_D179del,TSPY10:NM_001320962:exon2:c.526_531del:p.E178_D179del	.	1124	375	23	0	0	23	0.0297542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	.	3.84e-05	1	26028	rs775696224	0.0001	0.0003	.	0.0001	0.0003	7.81e-05	6.801e-05	7.556e-05	6.341e-05	0.0002	0.0003	0	0	0	0	0.0001	0.0003	7.071e-05	0	0.0008	.	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	282.35	.	chrY	9529057	.	CGAAGAT	C	282.35	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-0.163;DP=75;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.5;MQ=21.36;MQRankSum=0.785;QD=5.54;ReadPosRankSum=-1.213;SOR=0.066	GT:AD:DP:GQ:PL	./.:.:.:.:.	1	0	1	5